regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GJA5_chr1_147751199_147765602 | 147764980 | A A |
ACAATAAA others(6108): Show ACAATAAATGCTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTCTTTTTCCTTTTTCTTTTTTTTTTTATTTTTTATTTTTTTTTTTTTA TTATACTCTCAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACA TATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTGTCATCT AGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCA CCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCA TTGTTCAATTCCCACCTATGAGTGAGAATATGCAGTGTTTGGTTTTTTGT TCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCC TACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGG TGTATATGTGCCACATTTTCTTAATCCAGACTATCATTGTTGGACATTTG GGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACG TGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCCTTTGGGTATATAC CCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTG AGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCA CCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACCTGT TGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATAT CTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCA TTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTC TGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTG TAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGA TGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTC TGATGGTAGTTTCTTTTGCTGTGCAAAAGCTCTTTAGTTTAATTAGATCC CATTTGTCAATTTTGGTTTTTGTTGCCATTGCTTTTGGTGTTTTGGACAT GAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCCT CTAGGGTTTTTATGGTTTTAGGTCTAACATTTAAGTCTTTAATCCATCTT GAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCT ACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCT TTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAG ATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATC TCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGT ATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTT AGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAA AGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGA TGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATA TTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTGTC CTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCT TCACATCCCTTGTAAGTTGGATTCCTAAGTATTTTATTCTCTTTGAAGCA ATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTT GGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGA CTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGATGATG GGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAATTTGAC TTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTG CCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGG CATCCCTGTCTTGTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCC ATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTT TGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAG GGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCAT GTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTATTGATT TGCGTATATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATCA TGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTT ATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCT CTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCC TCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAG TTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGG CTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATT ATTGCCACAATTTCAGAGCCTGTTATTGGTCTATTCAGAGATTCAACTTC TTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATTT CTTCTAGATTTTCTAGTTTATTTGCATAGAGGTGTTTGTAGTATTCTCTG ATGGTAGTTTGTATTTCTGTAGGATCGGTGGTGATATCCCCTTTATCATT TTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTG CTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGAT TCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGC TCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCT CTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGAT CTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACA CACTGCTTTGAATGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTGTTCT CGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTATGTACC CAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGCGGCT TTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTG AGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCT TTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGA AAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTA TTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTG ACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTC TCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGCTCACTGAGGA CTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATATTTAGG ATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCC TTCTTTGTCTCTTTTGATCTTCGTTGGTTTGAAGTCTGTTTTATCAGAGA CTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTTGCTTGGTAGATC TTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATG GGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTG CCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTT AATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGA TTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGTCTTTACAT TTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTA GTGATTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCT CTCAGCATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAA GCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAA GAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGCC GAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCTGACC TTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTGA ATCTGACAAGTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGT GGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATT GGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAACTTGGTTC CATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTT TTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCT TTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCA TTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTG CATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTT TAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTT TTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGC TCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAATC ATTCTCCATCCAGCTTTGTTCTGTTGCTAGTGAGGAACTGCGTTCCTTTG GAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTGT TTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTG ATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTTAGTTTTC CTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATACCCTGCCG TGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTTAGGCTGC TTGGGGGTCAGGGGTCAGGGACCCACTTGAGGAGGCAGTCTGCCCGTTCT CAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCAAAGCTGTC AGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTTGTTTGTC TGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGCCTCCTTG AGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTTTGTTTACC TAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCGTTGCCGC CTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGATTCCGTG GGCGTAGGACCCTCTGAGCCAGGTGTGGGATATAGTCTCGTGGTGCGCCG TTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTGACCCGAT TTTCCAGGTACGTCCGTCACCCCTTTCTTTGACTCGGAAAGGGAACTCCC TGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCTTCGGCTT GCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGCACTCCCT ATTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCCGTCTT CTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCC ATCTTGGCTCCTCCTC |
upstream_gene_variant upstream_gene_variant |
MODIFIER | HG01516.hp2 HG01516.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 450 | 0.0022 | 6115 | c.-45 others(6126): Show c.-4516_-4515insGAGGAGGAGCCAAGATGGCCGAATAGGAACAGCT CCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGGTGATTTCTGC ATTTCCATCTGAGGTACCGGGTTCATCTCAATAGGGAGTGCCAGACAGTG GGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCAAGCCGAAGCAGGGCGAG GCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCCGAG TCAAAGAAAGGGGTGACGGACGTACCTGGAAAATCGGGTCACTCCCACCC GAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGACTA TATCCCACACCTGGCTCAGAGGGTCCTACGCCCACGGAATCTCGCTGATT GCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTGGGG GAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGCCGG GAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCTGCC TCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGACAGC AGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAGAGC AGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTGCCT CCTCAAGTGGGTCCCTGACCCCTGACCCCCAAGCAGCCTAACTGGGAGGC ACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCAACA GACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCAGAA AGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGACCA AAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGG AAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTTCCT CACTAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGA GAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACATTCA AACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTA TAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTG AAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAGCCG ATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGAATG AAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAG CAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACGTCT GATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAAACA CTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCC AACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTCGAG AAGAGCAACTCCAAGACACATACTTGTCAGATTCACCAAAGTTGAAATGA AGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCAGGTTACCCTCAAA GGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGC CAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTC AACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAA ATAAAATACTTTATAGACAAGCAAATGCTGAGAGATTTTGTCACCACCAG GCCTGCCCTAAAAGAGCTCCTGAAGGAATCACTAAACATGGAAAGGAACA ACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACATCGAGAC TAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACATCATA ATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAAATGG ACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGTC AAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGAC ACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCAAATGG AAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGACT TCAAACCAACGAAGATCAAAAGAGACAAAGAAGGCCATTACATAATGGTA AAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATGCACC CAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGAGCTACAAA GAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCCACTG TCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCCAGGA ATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGAACTC TCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCACACC TATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAATG TAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCAATCA AACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTACATGG AAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAATGAA GGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACCACAT ACCAGAATCTCTGGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTTATA GCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACACCCT AACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAAG CTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAATA GAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTTT TGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAA AAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGATATC ACCACCGATCCTACAGAAATACAAACTACCATCAGAGAATACTACAAACA CCTCTATGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTCCTCG ACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAAT AGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAAC CAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAGAGGT ACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAA AAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATTCTGAT ACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCAATAT CCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGA ATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCAT CCCTGGGATGCAAGGCTGGTTCAATATACGCAAATCAATAAATGTAATCC AGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAATAGAT GCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAACTCT CAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCTATCT ATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGCA TTCCCTTTGAAAACTGGCACAAGACAGGGATGCCCTCTCTCACCGCTCCT ATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAGG AAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTTT GCAGACGACATGATTGTTTATCTAGAAAACCCCATCATCTCAGCCCAAAA TCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAAATCA ATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAACAGAG AGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAAA ATACTTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAGA ACTACAAACCACTGCTCAAGGAAATAAAAGAGGACACAAACAAATGGAAG AACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGGCCAT ACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTACCAA TGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAAC CAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACAAAGC TGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACAGTAA CCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAAC AGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGATCTT TGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAATA AATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGAT CCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGACTT AAATGTTAGACCTAAAACCATAAAAACCCTAGAGGAAAACCTAGGCATTA CCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAA GCAATGGCAACAAAAACCAAAATTGACAAATGGGATCTAATTAAACTAAA GAGCTTTTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTA CAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAATA TCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAA CCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAAG ACATTTATGCAGCCAAAAAACACATGAAAAAATGCTCATCATCACTGGCC ATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCAGT TAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGAT GTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGTT CAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAGA AATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGACT ATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCGGCA CTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAATGAT AGTCTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCAG CCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATTG GAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACTG CATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACACA GGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGGG GAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGGG TGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACAA TGTGCACATGTACCCTAAAACTGAGAGTATAATAAAAAAAAAAAAATAAA AAATAAAAAAAAAAAGAAAAAGGAAAAAGAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAAAAAAAAGAAAGCATTTATTG |
GJA5 | ENSG00000265107.3 | transcript | ENST00000579774.3 | protein_coding | 4379 | chr1 | TogoVar | ||||||
POLA1_chrX_24688918_25001986 | 24752784 | T T |
TATGATTT others(6108): Show TATGATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTA TACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATAT GTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCATCTAGC ATTAGGTATATCTCCCAATGCTATCCCTCCCCTCTTCCCCGACCCCACCA CAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCATTG TTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGTTCT TGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCCTAC AAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGGTGT ATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTGGGT TGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACGTGT GCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATACCCA GTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTGAGG AATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCACCA ACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGTTGT TTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATATCTC ATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCATTT CTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTCTGT TCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTGTAA ATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGATGA GTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTCTGA TGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTGAATTAGATCCCAT TTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACATGAA GTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTTCTA GGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATCCATCTTGAA TTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCTACA TATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCTTTC CCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAGATA TGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATCTCT GTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGTATA GTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTTAGG ATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAAAGT AGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGATGG CATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATATTG ATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTCTCCTC TTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCTTCA CATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCAATT GTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTTGGT GTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGACTT TGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATGGGG TTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAATTTGACTTC CTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTGCCC TGGCCAGAACTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGGCAT CCCTGTCTTGTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCCATT CAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTATTTTGA AATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAGGGT TGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCATGTG GTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTATTGATTTGC GTATATTGAACCAGCCTTGCATCCCAGGGATGAAGCCTACTTGATCATGG TGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTTATT GAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCTCTT TTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCCTCA TAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAGTTT CAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATTCGGCTG TGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATTATT GCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAGATTCAACTTCTTC CTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATTTCTT CTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTGATG GTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATTTTT TATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTGCTA GCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGATTCA TTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGCTCT GATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCTCTT GCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGATCTT TCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACACAC TGCTTTGAATGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTGTTCTCGT TGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTATGTACCCAG TAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGCGGCTTTG AGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTGAGA GATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCTTTA CTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGAAAA AAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTATTA GGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATCCTTGTTGACT TTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTCTCC CATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGACTT GCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATATTTAGGATA GTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCCTTC TTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGACTA GGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATCTTC CTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATGGGT TTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTGCCA GTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTTAAT ATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGATTT TGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACATTT TGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTTAGC GCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATCTCT CAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGAAGC TTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTAAGA ATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAAGGTTTCTGCCGA GAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGACCTT TCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAGCTTTGGTGAAT CTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTGTGG CGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGATTGG GGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAACTTGGTTCCA TTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCTTTT CACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTCTTT TTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCCATT GCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCTGCA TTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCTTTA AGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTTTTT TCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAGCTC AGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCATCAAAATCAT TCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTTGGA GGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGCTCTGTTT TTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGTGAT GTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTTAGTTTTCCT TCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATACCCTGCCGTG TGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTTAGGCTGCTC GGGGGTCAGGAGTCAGGGACCCACTTGAGGAGGCAGTCTGCCCGTTCTCA GATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCAAAGCTGTCAG ACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTTGTTTGTCTG TGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGCCTCCTTGAG CTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTTTGTTTACCTA AGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCGTTGCCGCCT TGCAGTTTGATCTCAGCCTGCTGTGCCAGCAATCAGCGAGATTCCGTGGG CGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTGGTGCGCCGTT TCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTGACCCGATTT TCCAGGTGCGTCCATCACCCCTTTCTTTGACTCGGAAAGGGAACTCCCTG ACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCTTCGGCTCGC GCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGCACTCCCTAG TGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCGTCTTCTG CTTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCCATC TTGGCTCCTCCCCCCC |
intron_variant intron_variant |
MODIFIER | HG03130.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 197 | 0.0051 | 6115 | c.296 others(6134): Show c.2964+3802_2964+3803insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAG GTTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAA TGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCTCTTC CCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCA TGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTT GGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCA TCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAG TATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGT TGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAA TAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTT GGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTC TAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTT TACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTC CAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGT GAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTG ATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTT GAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGT TTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCC CTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGC CTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTG AATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTG TTTTGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCT AGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTT AATCCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTT TCAGCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAAT AGGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAG ATAGTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATT GATCTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTA GCCTTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTT CTTTTGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATA TGAACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGC TTGATGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCAT TTTCACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATT TGTTTGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTG AAGAGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCT CTTTGAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTT GTCTGTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTG TATCCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGC TGAGACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGG ACAATTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCC TGCCTGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGCGG TGAGAGAGGGCATCCCTGTCTTGTGCCAGTTTTCAAAGGGAATGCTTCCA GTTTTTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCT CTTATTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTT TAGCATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTG AGATAATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACA TTTATTGATTTGCGTATATTGAACCAGCCTTGCATCCCAGGGATGAAGCC TACTTGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTG CCAGTATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGT CTAAAATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGAAT GATGCTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTG ATTGGAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGG TAGAATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAA ACTATTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAG ATTCAACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAAT GTATCCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTA GTATTCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCC CTTTATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTT ATTAGTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCA GCTCCTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCT TCAGTTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAA TGTGTTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTC AATTTTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATT TCCCTCTACACACTGCTTTGAATGCGTCCCAGAGATTCTGGTATGTGGTG TCTTTGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTC GTTATGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAG TTGAGCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCA CTGTGGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCT GAGGAGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGT GTGGTGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTG TAGATGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGT ATCCTTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGG TGTTAAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGG TCACTGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATA AATATTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTA TGTAATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTT TTATCAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGC TTGGTAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGC ACGTGAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTT ATCCAACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTAT ATTTAAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGT TAGCTGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGAT GGTCTTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCT TTCCATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGG TGACAAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCT TCACTTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATT CTTTTCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTA AGGTTTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGG GTAACCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTC AGCTTTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGG AGTATCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGC CTTGCTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTC CAACTTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTA GATTTGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTT CTTTTTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCAT TTCATCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCC TGAGGCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCC ATCAGCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTC TTCTAAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGT CCTCCCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGC TCATCAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACT GCGTTCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTT TTCTGCTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTT TGATGATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGT TGTTAGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGA ATACCCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCC AGTTAGGCTGCTCGGGGGTCAGGAGTCAGGGACCCACTTGAGGAGGCAGT CTGCCCGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCT TCAAAGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCT TTTTGTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGC AGGCCTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTG CTTTGTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGC CTCGTTGCCGCCTTGCAGTTTGATCTCAGCCTGCTGTGCCAGCAATCAGC GAGATTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTC GTGGTGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGG AGTGACCCGATTTTCCAGGTGCGTCCATCACCCCTTTCTTTGACTCGGAA AGGGAACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCC TGCTTCGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTC TGGCACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAA TCACCGTCTTCTGCTTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTC CTATTCGGCCATCTTGGCTCCTCCCCCCCATGATTTTTT |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
RALYL_chr8_84178274_84926844 | 84516373 | T T |
TTAAAAGC others(6108): Show TTAAAAGCCAAATCCGGGGGGAGGAGCCAAGATGGCCGAATAGGAACAGC TCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTCTGC ATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACAGTG GGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGCGAG GCATTGCCTCACCTGGGAAGTGCAAGGGGTCAGGGAGTTCCCTTTCCGAG TCAAAGAAAGGGGTGACGGTCGCACCTGGAAAATCGGGTCACTCCCACCC GAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGACTA TATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTGATT GCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTGGGG GAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGCCGG GAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCTGCC TCTGAAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGACAGC AGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAGAGC AGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACAGACT GCCTCCTCAAGTGGGTCCCTGACTCCTGACCCCCGAGCAGCCTAACTGGG AGGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCC AACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACC AGAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAG ACCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAA CTGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGT TCCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCT GAGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACA TTCAAAACAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAA TGTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGA GCTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGA GCCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATG AATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAA TGAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTAC GTCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAA AACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCA GGCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCT CGAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAA ATGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCT CAAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTAC AAGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAAT TTTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGG AGAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCA CCAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGG AACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATC GAGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACA TCATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATA AATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAA GAGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCA GAGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCA AATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAAC AGACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAA TGGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTAT GCACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCT ACAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCC CACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACC CAGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAG AACTCTCCACCACAAATCAACAGAATATACCTTTTTTTCAGCACCACACC ACACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGC AAATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGC AATCAAACTACAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTA CATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAA ATGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAATAAAGACAC CACATACCAGAATCTCTGGGACGCATTCAAAGCAGTGTGTAGAGGGAAAT TTATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGAC ACCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTC AAAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGG AAATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGG TTTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAA GAAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGG ATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTAC AAACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATT CCTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTC TGAATAGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTA CCAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCA GAGGTACATGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAA TAGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATT CTGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACC AATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAA ACCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGC TTCATCCCTGGGATGCAAGGCTGGTTCAATATACGCAAATCAATAAATGT AATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAA TAGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAA ACTCTCAATAAATTAGGTATTGATGGGACGTATTTTAAAATAATAAGAGC TATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGG AAGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCG CTCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGA GAAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCC TGTTTGCAGACGACATGATTGTATATCTAGAAAACCCCATCGTCTCAGCC CAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAA AATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAA CAGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGA ATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAA GGAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAAT GGAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATG GCCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCT ACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATAT GGAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAAC AAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTAC AGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAAT GGAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTG ATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATT TAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAAC TGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAA GATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGG CATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACAC CAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAA CTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCA ACCTACAACATGGGAGAAAATTTTCGCAACCTACTCATCTGACAAAGGGC TAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACA AACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAA AGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCAC TGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACA CCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAG AGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAAC TAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAA CTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAA TGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTG CGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACA ATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTA TGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGA AATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAA CACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGG ACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGA GGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTA GTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTG CACAATGTGCACATGTACCCTAAAACTTAGAGAATAATAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAGACATACAAAAAAAAAAAAAAA TAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | NA18522.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 82 | 0.0122 | 6115 | c.-23 others(6134): Show c.-23-12912_-23-12911insGGGGGGAGGAGCCAAGATGGCCGAAT AGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGT GATTTCTGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGC CAGACAGTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAG CAGGGCGAGGCATTGCCTCACCTGGGAAGTGCAAGGGGTCAGGGAGTTCC CTTTCCGAGTCAAAGAAAGGGGTGACGGTCGCACCTGGAAAATCGGGTCA CTCCCACCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACC ACGAGACTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATC TCGCTGATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACG AGGCTGGGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAA AGCAGCCGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGC CTGCCTGCCTCTGAAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAA AAAGACAGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTT GAAGAGAGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGC AGACAGACTGCCTCCTCAAGTGGGTCCCTGACTCCTGACCCCCGAGCAGC CTAACTGGGAGGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCA GGGTATTCCAACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAA CTAACAACCAGAAAGGACATCTACACCGAAAACCCATCTGTACATCACCA TCATCAAAGACCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGA ACAGAAAAACTGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAG GAACGCAGTTCCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTT TGACGAGCTGAGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTAC GGGAGGACATTCAAAACAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAAT TTAGAAGAATGTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGA GCTGATGGAGCTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAA GCCTCAGGAGCCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAA GATGAAATGAATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAAT AAAAAGAAATGAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGAC CAAATCTACGTCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACC AAGTTGGAAAACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCT AGCAAGGCAGGCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAA GATACTCCTCGAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACC AAAGTTGAAATGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCG GGTTACCCTCAAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAG AAACCCTACAAGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAA GAAAAGAATTTTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCAT AAGTGAAGGAGAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATT TTGTCACCACCAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAAC ATGGAAAGGAACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTA AAGACCATCGAGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCAC CAGCTAACATCATAATGACAGGATCAAATTCACACATAACAATATTAACT TTAAATATAAATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAG TTGGATAAAGAGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATC TCACGTGCAGAGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATC TACCAAGCAAATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTC TGATAAAACAGACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCC ATTACATAATGGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTA AATATTTATGCACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCT CAGTGACCTACAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACT TTAACACCCCACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAAC AAGGATACCCAGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGA CATCTACAGAACTCTCCACCACAAATCAACAGAATATACCTTTTTTTCAG CACCACACCACACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCT CTCCTCAGCAAATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGA CCACAGTGCAATCAAACTACAACTCAGGATTAAGAATCTCACTCAAAGCC GCTCAACTACATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTA CATAACGAAATGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAA TAAAGACACCACATACCAGAATCTCTGGGACGCATTCAAAGCAGTGTGTA GAGGGAAATTTATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCC AAAATTGACACCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCA AACACATTCAAAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAG AACTGAAGGAAATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCC AGGAGCTGGTTTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAG ACTAATAAAGAAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATG ATAAAGGGGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGA GAATACTACAAACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAAT GGATACATTCCTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAG TTGAATCTCTGAATAGACCAATAACAGGCTCTGAAATTGTGGCAATAATC AATAGTTTACCAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGA ATTCTACCAGAGGTACATGGAGGAACTGGTACCATTCCTTCTGAAACTAT TCCAATCAATAGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCC AGCATCATTCTGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAA TTTTAGACCAATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAA TACTGGCAAACCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGAT CAAGTGGGCTTCATCCCTGGGATGCAAGGCTGGTTCAATATACGCAAATC AATAAATGTAATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGA TTATCTCAATAGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTC ATGCTAAAAACTCTCAATAAATTAGGTATTGATGGGACGTATTTTAAAAT AATAAGAGCTATCTATGACAAACCCACAGCCAATATCATACTGAATGGGC AAAAACTGGAAGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCT CTCTCACCGCTCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAAT CAGGCAGGAGAAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCA AATTGTCCCTGTTTGCAGACGACATGATTGTATATCTAGAAAACCCCATC GTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTC AGGATACAAAATCAATGTACAAAAATCACAAGCATTCTTATACACCAACA ACAGACAAACAGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCT TCAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGA CCTCTTCAAGGAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGA CAAACAAATGGAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATC GTGAAAATGGCCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCC CATCAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAA AGTTCATATGGAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGC CAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTA CAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATA TAGATCAATGGAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTAC AACTATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGA TTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAA AGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGA TGGATTAAAGATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGA AAACCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGT CCAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGAT CTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGT GAACAGGCAACCTACAACATGGGAGAAAATTTTCGCAACCTACTCATCTG ACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAG AAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACA CTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCT CATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATAT CATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAG GTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGG ACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGG GATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTAT ATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTA TGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAA TGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCAT GGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGA CATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAA AAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAG ATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGG GTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGAT GACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTA ACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGAATAATAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACATACAAAAAA AAAAAAAAATAAAAAAAAAAAAAAATAAAAGCCAAATCC |
RALYL | ENSG00000184672.12 | transcript | ENST00000521268.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
REELD1_chr4_146209538_146237267 | 146220471 | T T |
TTAATTTT others(6108): Show TTAATTTTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTCATATTCTTC TTTGTTTTATTTATAATTTTTTTTTTTTACAATTCTTTTTTTTTTTTTTT TTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTT ACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTGTCA TCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACC CCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATC TCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTT TGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGT CGCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCA TGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGGCAT TTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACAT ACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATA TACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCC CTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTC CCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACC TGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGA TATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGA GCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGT GTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTC TTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTC AGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCA CTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTGAATTAGA TCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGA CATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTT CTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATCCAT CTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTT TCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAAT CCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTG TAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTAT ATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGT AGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGG CTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAACTT TAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGG GGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTCACG ATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTTTGT CTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGT CCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAA GCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTT GTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATCCTG AGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACG ATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAATTT GACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCCTGA TTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAGAGA GGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTTTTG CCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATACCTCTTATTA TTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGCATG AAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGATAAT CATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTATTG ATTTGCGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGA TCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTAT TTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAAAAT TCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGATGCTG GCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAA TAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATT CGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTG ATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAGATTCAAC TTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCA TTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCT CTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTTATC ATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTC TTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTG GATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTC TGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTT GCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTG GATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCT ACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTGT TCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTATGT ACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGCG GCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGT CTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGGAGA GCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGC TGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGT CTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATCCTTG TTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAA GTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGA GGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATATTT AGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTAATG GCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAG AGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAG ATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAG ATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCCAAC TTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTTAAA GTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGCTGG TGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTT ACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATG TTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAA ATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCACTTA TGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTTTCT TTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTC TGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCC GACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCTTTCATTTCAACTTTG GTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCT TTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTA GATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAACTTG GTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATTTGG TCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTA TTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCATCT TCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCT TCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCT CCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCTAAA TTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCG TAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAA AATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCC TTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTT CTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGATGAT GGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTTAGT TTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATACCCT GCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTTAGG CTGCTCGGGGGTCAGGAGTCAGGGACCCACTTGAGGAGGCAGTCTGCCCG TTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCAAAGC TGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTTGTT TGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGCCTC CTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTTTGTT TACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCGTTG CCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGATTC CGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTGGTGC GCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTGACC CGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGGAAC TCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCTTCG GCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGCACT CCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCGT CTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCG GCCATCTTGGCTCCTC |
intron_variant intron_variant |
MODIFIER | NA18961.hp2 NA18984.hp1 NA18961.hp2 NA18984.hp1 |
a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0031 | 2 | 434 | 0.0046 | 6115 | c.209 others(6132): Show c.209-1872_209-1871insTTTTTTTTTTTTTTTTTTTTTTTTTCAT ATTCTTCTTTGTTTTATTTATAATTTTTTTTTTTTACAATTCTTTTTTTT TTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAG GTTAGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAA TGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCC CCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCA TGTGATCTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTT GGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCA TCCATGTCGCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAG TATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGT TGGGCATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAA TAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTT GGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTC TAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTT TACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTC CAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGT GAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTG ATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTT GAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGT TTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCC CTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGC CTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTG AATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTG TTTTGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCT AGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTT AATCCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTT TCAGCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAAT AGGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAG ATAGTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATT GATCTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTA GCCTTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTT CTTTTGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATA TGAACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGC TTGATGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCAT TTTCACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATT TGTTTGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTG AAGAGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCT CTTTGAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTT GTCTGTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTG TATCCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGC TGAGACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGG ACAATTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCC TGCCTGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGG TGAGAGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCA GTTTTTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATACCT CTTATTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTT TAGCATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTG AGATAATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACA TTTATTGATTTGCGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCC CACTTGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTG CCAGTATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGT CTAAAATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTAT GATGCTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTG ATTGGAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGG TAGAATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAA ACTATTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAG ATTCAACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAAT GTATCCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTA GTATTCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCC CTTTATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTT ATTAGTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCA GCTCCTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCT TCAGTTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAA TGTGTTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTC AATTTTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATT TCCCTCTACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTG TCTTTGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTC GTTATGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAG TTGAGCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCA CTGTGGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCT GAGGAGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGT GTGGTGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTG TAGATGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGT ATCCTTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGG TGTTAAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGG TCACTGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATA AATATTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTA TGTAATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTT TTATCAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGC TTGGTAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGC ACGTGAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTT ATCCAACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTAT ATTTAAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGT TAGCTGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGAT GGTCTTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCT TTCCATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGG TGACAAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCT TCACTTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATT CTTTTCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTA GGGTTTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGG GTAACCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCTTTCATTTC AACTTTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGG AGTATCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGC CTTGCTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTC CAACTTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTA GATTTGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTT CTTTTTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCAT TTCATCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCC TGAGGCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCC ATCAGCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTC TTCTAAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGT CCTCCCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGC TCGTCAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACT GCGTTCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTT TTCTGTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTT TGATGATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGT TGTTAGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGA ATACCCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCC AGTTAGGCTGCTCGGGGGTCAGGAGTCAGGGACCCACTTGAGGAGGCAGT CTGCCCGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCT TCAAAGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCT TTTTGTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGC AGGCCTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTG CTTTGTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGC CTCGTTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGC GAGATTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTC GTGGTGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGG AGTGACCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAA AGGGAACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCC TGCTTCGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTC TGGCACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAA TCACCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTC CTATTCGGCCATCTTGGCTCCTCTAATTTTCTCTCTT |
REELD1 | ENSG00000250673.3 | transcript | ENST00000623665.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SCN5A_chr3_38543062_38654687 | 38584574 | C C |
CAGAATGA others(6108): Show CAGAATGAGTAAATAATGGAGGGGAGGAGCCAAGATGGCCGAATAGGAAC AGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTC TGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACA GTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGC GAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCC GAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCA CCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGA CTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTG ATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTG GGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGC CGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCT GCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGAC AGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAG AGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTG CCTCCTCAAGTGGGTCCCTGACTCCTGACCCCCGAGCAGCCTAACTGGGA GGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCA ACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCA GAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGA CCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAAC TGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTT CCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTG AGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACAT TCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAAT GTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAG CTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAG CCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGA ATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAAT GAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACG TCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAA ACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAG GCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTC GAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAA TGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCAC AAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACA AGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATT TTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGA GAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCAC CAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGA ACAACCGGTACCAGCCACTGCAAAATCATGCCAAAATGTAAAGACCATCG AGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACAT CATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAA ATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAG AGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAG AGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCCA ATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACA GACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAAT GGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATG CACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTA CAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCC ACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCC AGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGA ACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCA CACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCA AATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCA ATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTAC ATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAA TGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACC ACATACCAGAATCTCTGGGACGCACTCAAAGCAGTGTGTAGAGGGAAATT TATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACA CCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCA AAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGA AATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGT TTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAG AAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGA TATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACA AACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTC CTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCT GAATCGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTAC CAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAG AGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAAT AGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATAC TGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCA ATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAA CCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCT TCATCCCTGGGATGCAAGGCTGGTTCAATACACGCAAATCAATAAATGTA ATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAAT AGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAA CTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGGT ATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGA AGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCAC TCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAG AAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCT GTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCC AAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAA ATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAAC AGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAA TAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAG GAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATG GAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGG CCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTA CCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATG GAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACA AAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACA GTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATG GAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGA TCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTT AATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACT GGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAG ATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGC ATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACC AAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAAC TAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAA CCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCT AATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAA ACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAA GAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACAC CAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGA GGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAT GAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC GGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGTAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA AAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATATGAA AAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | HG02486.hp2 HG02486.hp2 |
a0002 | a0002c0015 | a0002c0015t0001 | a0002c0015t0001g0012 | 1 | 340 | 0.0029 | 6115 | c.278 others(6134): Show c.2787+1116_2787+1117insTTTTTTTTTTTTTTTTTTCATATTCT TCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTTTTT TTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGT TACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTGTC ATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGAC CCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGAT CTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGTTTT TTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATG TCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCC ATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGGCA TTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACA TACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTAT ATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATC CCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGT CCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCAC CTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATG ATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATG AGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAG TGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTT CTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGT CAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTC ACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAG ATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGG ACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTT TCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATCCA TCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCT TTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAA TCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTT GTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTA TATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTG TAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTG GCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAACT TTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATG GGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTCAC GATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTTTG TCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGG TCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGA AGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGT TGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATCCT GAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGAC GATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAATT TGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCCTG ATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAGAG AGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTTTT GCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATACCTCTTATT ATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGCAT GAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGATAA TCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTATT GATTTGCGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACTTG ATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTA TTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAAAA TTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGATGCT GGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTGGA ATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAGAAT TCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTATT GATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAGATTCAA CTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTATCC ATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTC TCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTTAT CATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTAGT CTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTCCT GGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTT CTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTT TGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATTTT GGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCCTC TACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTG TTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTATG TACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGC GGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGTGG TCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGGAG AGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTG CTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATG TCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATCCTT GTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTTAA AGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTG AGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATATT TAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTAAT GGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCA GAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTA GATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGTGA GATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCCAA CTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTTAA AGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGCTG GTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTT TACATTTTGGCATGATTTTGCAGTGGCTGGTACCGGTTGTTCCTTTCCAT GTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAA AATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCACTT ATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTTTC TTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTT CTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGTGGGTAACC CGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACTTT GGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATC TTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTGCT AGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAACTT GGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATTTG GTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTTTT ATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCATC TTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGC TTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGC TCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCTAA ATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCC GTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCA AAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTC CTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGT TCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGATGA TGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTTAG TTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATACCC TGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTTAG GCTGCTCGGGGGTCAGGAGTCAGGGACCCACTTGAGGAGGCAGTCTGCCC GTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCAAAG CTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTTGT TTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGCCT CCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTTTGT TTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCGTT GCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGATT CCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTGGTG CGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTGAC CCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGGAA CTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCTTC GGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGCAC TCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCG TCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTC GGCCATCTTGGCTCCTCCCCTCCATTATTTACTCATTCT |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C C |
CAGAATGA others(6108): Show CAGAATGAGTAAATAATGGAGGGGAGGAGCCAAGATGGCCGAATAGGAAC AGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTC TGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACA GTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGC GAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCC GAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCA CCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGA CTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTG ATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTG GGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGC CGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCT GCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGAC AGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAG AGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTG CCTCCTCAAGTGGGTCCCTGACTCCTGACCCCCGAGCAGCCTAACTGGGA GGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCA ACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCA GAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGA CCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAAC TGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTT CCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTG AGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACAT TCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAAT GTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAG CTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAG CCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGA ATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAAT GAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACG TCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAA ACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAG GCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTC GAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAA TGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTC AAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACA AGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATT TTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGA GAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCAC CAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGA ACAACCGGTACCAGCCACTGCAAAATCATGCCAAAATGTAAAGACCATCG AGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACAT CATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAA ATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAG AGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAG AGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCCA ATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACA GACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAAT GGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATG CACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTA CAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCC ACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCC AGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGA ACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCA CACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCA AATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCA ATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTAC ATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAA TGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACC ACATACCAGAATCTCTGGGACGCACTCAAAGCAGTGTGTAGAGGGAAATT TATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACA CCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCA AAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGA AATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGT TTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAG AAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGA TATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACA AACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTC CTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCT GAATCGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTAC CAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAG AGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAAT AGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATAC TGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCA ATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAA CCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCT TCATCCCTGGGATGCAAGGCTGGTTCAATACACGCAAATCAATAAATGTA ATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAAT AGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAA CTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGGT ATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGA AGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCAC TCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAG AAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCT GTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCC AAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAA ATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAAC AGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAA TAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAG GAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATG GAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGG CCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTA CCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATG GAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACA AAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACA GTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATG GAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGA TCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTT AATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACT GGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAG ATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGC ATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACC AAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAAC TAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAA CCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCT AATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAA ACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAA GAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACAC CAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGA GGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAT GAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC GGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGTAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA AAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATATGAA AAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | HG01891.hp1 HG02895.hp2 HG03209.hp1 HG01891.hp1 HG02895.hp2 HG03209.hp1 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0001a0001c0008t0002 | a0001c0002t0001g0132a0001c0002t0001g0133a0001c0008t0002g0134 | 3 | 340 | 0.0088 | 6115 | c.278 others(6134): Show c.2787+1116_2787+1117insTTTTTTTTTTTTTTTTTTCATATTCT TCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTTTTT TTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGT TACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTGTC ATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGAC CCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGAT CTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGTTTT TTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATG TCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCC ATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGGCA TTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACA TACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTAT ATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATC CCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGT CCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCAC CTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATG ATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATG AGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAG TGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTT CTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGT CAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTC ACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAG ATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGG ACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTT TCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATCCA TCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCT TTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAA TCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTT GTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTA TATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTG TAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTG GCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAACT TTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATG GGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTCAC GATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTTTG TCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGG TCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGA AGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGT TGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATCCT GAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGAC GATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAATT TGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCCTG ATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAGAG AGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTTTT GCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATACCTCTTATT ATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGCAT GAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGATAA TCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTATT GATTTGCGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACTTG ATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTA TTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAAAA TTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGATGCT GGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTGGA ATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAGAAT TCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTATT GATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAGATTCAA CTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTATCC ATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTC TCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTTAT CATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTAGT CTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTCCT GGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTT CTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTT TGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATTTT GGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCCTC TACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTG TTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTATG TACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGC GGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGTGG TCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGGAG AGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTG CTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATG TCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATCCTT GTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTTAA AGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTG AGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATATT TAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTAAT GGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCA GAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTA GATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGTGA GATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCCAA CTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTTAA AGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGCTG GTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTT TACATTTTGGCATGATTTTGCAGTGGCTGGTACCGGTTGTTCCTTTCCAT GTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAA AATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCACTT ATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTTTC TTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTT CTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACC CGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACTTT GGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATC TTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTGCT AGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAACTT GGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATTTG GTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTTTT ATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCATC TTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGC TTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGC TCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCTAA ATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCC GTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCA AAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTC CTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGT TCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGATGA TGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTTAG TTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATACCC TGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTTAG GCTGCTCGGGGGTCAGGAGTCAGGGACCCACTTGAGGAGGCAGTCTGCCC GTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCAAAG CTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTTGT TTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGCCT CCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTTTGT TTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCGTT GCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGATT CCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTGGTG CGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTGAC CCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGGAA CTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCTTC GGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGCAC TCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCG TCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTC GGCCATCTTGGCTCCTCCCCTCCATTATTTACTCATTCT |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C C |
CAGAATGA others(6108): Show CAGAATGAGTAAATAATGGAGGGGAGGAGCCAAGATGGCCGAATAGGAAC AGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTC TGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACA GTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGC GAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCC GAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCA CCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGA CTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTG ATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTG GGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGC CGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCT GCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGAC AGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAG AGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTG CCTCCTCAAGTGGGTCCCTGACTCCTGACCCCCGAGCAGCCTAACTGGGA GGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCA ACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCA GAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGA CCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAAC TGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTT CCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTG AGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACAT TCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAAT GTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAG CTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAG CCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGA ATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAAT GAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACG TCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAA ACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAG GCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTC GAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAA TGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTC AAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACA AGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATT TTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGA GAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCAC CAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGA ACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCG AGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACAT CATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAA ATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAG AGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAG AGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCCA ATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACA GACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAAT GGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATG CACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTA CAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCC ACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCC AGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGA ACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCA CACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCA AATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCA ATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTAC ATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAA TGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACC ACATACCAGAATCTCTGGGACGCACTCAAAGCAGTGTGTAGAGGGAAATT TATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACA CCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCA AAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGA AATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGT TTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAG AAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGA TATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACA AACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTC CTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCT GAATCGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTAC CAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAG AGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAAT AGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATAC TGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCA ATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAA CCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCT TCATCCCTGGGATGCAAGGCTGGTTCAATACACGCAAATCAATAAATGTA ATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAAT AGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAA CTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGGT ATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGA AGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCAC TCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAG AAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCT GTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCC AAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAA ATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAAC AGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAA TAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAG GAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATG GAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGG CCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTA CCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATG GAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACA AAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACA GTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATG GAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGA TCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTT AATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACT GGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAG ATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGC ATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACC AAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTCAAC TAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAA CCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCT AATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAA ACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAA GAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACAC CAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGA GGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAT GAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC GGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGTAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA AAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATATGAA AAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | HG01074.hp1 HG01168.hp1 HG01169.hp1 others(5): Show HG01074.hp1 HG01168.hp1 HG01169.hp1 HG01361.hp2 HG01433.hp1 HG02809.hp2 HG03688.hp1 HG03942.hp2 |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0002t0001others(3): Show | a0001c0001t0002g0004a0001c0001t0004g0215a0001c0002t0001g0180others(4): Show | 8 | 340 | 0.0235 | 6115 | c.278 others(6134): Show c.2787+1116_2787+1117insTTTTTTTTTTTTTTTTTTCATATTCT TCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTTTTT TTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGT TACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTGTC ATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGAC CCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGAT CTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGTTTT TTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATG TCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCC ATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGGCA TTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACA TACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTAT ATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATC CCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGT CCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCAC CTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATG ATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATG AGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAG TGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTT CTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGT CAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTC ACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTGAATTAG ATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGG ACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTT TCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATCCA TCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCT TTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAA TCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTT GTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTA TATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTG TAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTG GCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAACT TTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATG GGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTCAC GATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTTTG TCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGG TCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGA AGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGT TGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATCCT GAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGAC GATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAATT TGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCCTG ATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAGAG AGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTTTT GCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATACCTCTTATT ATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGCAT GAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGATAA TCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTATT GATTTGCGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACTTG ATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTA TTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAAAA TTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGATGCT GGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTGGA ATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAGAAT TCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTATT GATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAGATTCAA CTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTATCC ATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTC TCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTTAT CATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTAGT CTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTCCT GGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTT CTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTT TGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATTTT GGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCCTC TACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTG TTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTATG TACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGC GGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGTGG TCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGGAG AGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTG CTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATG TCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATCCTT GTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTTAA AGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTG AGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATATT TAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTAAT GGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCA GAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTA GATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGTGA GATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCCAA CTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTTAA AGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGCTG GTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTT TACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCAT GTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAA AATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCACTT ATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTTTC TTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTT CTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACC CGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACTTT GGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATC TTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTGCT AGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAACTT GGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATTTG GTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTTTT ATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCATC TTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGC TTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGC TCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCTAA ATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCC GTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCA AAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTC CTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGT TCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGATGA TGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTTAG TTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATACCC TGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTTAG GCTGCTCGGGGGTCAGGAGTCAGGGACCCACTTGAGGAGGCAGTCTGCCC GTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCAAAG CTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTTGT TTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGCCT CCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTTTGT TTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCGTT GCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGATT CCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTGGTG CGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTGAC CCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGGAA CTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCTTC GGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGCAC TCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCG TCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTC GGCCATCTTGGCTCCTCCCCTCCATTATTTACTCATTCT |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C C |
CAGAATGA others(6108): Show CAGAATGAGTAAATAATGGAGGGGAGGAGCCAAGATGGCCGAATAGGAAC AGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTC TGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACA GTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGC GAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCC GAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCA CCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGA CTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTG ATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTG GGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGC CGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCT GCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGAC AGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAG AGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTG CCTCCTCAAGTGGGTCCCTGACTCCTGACCCCCGAGCAGCCTAACTGGGA GGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCA ACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCA GAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGA CCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAAC TGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTT CCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTG AGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACAT TCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAAT GTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAG CTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAG CCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGA ATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAAT GAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACG TCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAA ACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAG GCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTC GAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAA TGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTC AAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACA AGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATT TTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGA GAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCAC CAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGA ACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCG AGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACAT CATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAA ATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAG AGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAG AGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCCA ATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACA GACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAAT GGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATG CACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTA CAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCC ACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCC AGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGA ACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCA CACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCA AATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCA ATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTAC ATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAA TGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACC ACATACCAGAATCTCTGGGACGCACTCAAAGCAGTGTGTAGAGGGAAATT TATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACA CCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCA AAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGA AATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGT TTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAG AAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGA TATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACA AACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTC CTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCT GAATCGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTAC CAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAG AGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAAT AGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATAC TGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCA ATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAA CCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCT TCATCCCTGGGATGCAAGGCTGGTTCAATACACGCAAATCAATAAATGTA ATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAAT AGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAA CTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGGT ATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGA AGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCAC TCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAG AAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCT GTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCC AAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAA ATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAAC AGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAA TAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAG GAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATG GAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGG CCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTA CCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATG GAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACA AAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACA GTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATG GAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGA TCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTT AATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACT GGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAG ATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGC ATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACC AAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTCAAC TAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAA CCTACAACATGGGAGAAAATTTTTGCAACCTACTGATCTGACAAAGGGCT AATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAA ACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAA GAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACAC CAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGA GGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAT GAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC GGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGTAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA AAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATATGAA AAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | NA18982.hp1 NA18986.hp1 NA18982.hp1 NA18986.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0068a0001c0004t0001g0097 | 2 | 340 | 0.0059 | 6115 | c.278 others(6134): Show c.2787+1116_2787+1117insTTTTTTTTTTTTTTTTTTCATATTCT TCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTTTTT TTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGT TACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTGTC ATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGAC CCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGAT CTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGTTTT TTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATG TCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCC ATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGGCA TTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACA TACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTAT ATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATC CCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGT CCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCAC CTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATG ATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATG AGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAG TGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTT CTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGT CAGATCAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTC ACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTGAATTAG ATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGG ACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTT TCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATCCA TCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCT TTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAA TCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTT GTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTA TATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTG TAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTG GCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAACT TTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATG GGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTCAC GATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTTTG TCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGG TCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGA AGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGT TGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATCCT GAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGAC GATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAATT TGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCCTG ATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAGAG AGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTTTT GCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATACCTCTTATT ATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGCAT GAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGATAA TCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTATT GATTTGCGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACTTG ATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTA TTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAAAA TTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGATGCT GGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTGGA ATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAGAAT TCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTATT GATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAGATTCAA CTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTATCC ATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTC TCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTTAT CATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTAGT CTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTCCT GGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTT CTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTT TGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATTTT GGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCCTC TACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTG TTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTATG TACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGC GGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGTGG TCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGGAG AGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTG CTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATG TCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATCCTT GTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTTAA AGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTG AGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATATT TAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTAAT GGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCA GAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTA GATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGTGA GATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCCAA CTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTTAA AGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGCTG GTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTT TACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCAT GTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAA AATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCACTT ATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTTTC TTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTT CTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACC CGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACTTT GGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATC TTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTGCT AGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAACTT GGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATTTG GTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTTTT ATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCATC TTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGC TTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGC TCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCTAA ATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCC GTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCA AAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTC CTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGT TCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGATGA TGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTTAG TTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATACCC TGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTTAG GCTGCTCGGGGGTCAGGAGTCAGGGACCCACTTGAGGAGGCAGTCTGCCC GTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCAAAG CTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTTGT TTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGCCT CCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTTTGT TTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCGTT GCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGATT CCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTGGTG CGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTGAC CCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGGAA CTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCTTC GGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGCAC TCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCG TCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTC GGCCATCTTGGCTCCTCCCCTCCATTATTTACTCATTCT |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C C |
CAGAATGA others(6108): Show CAGAATGAGTAAATAATGGAGGGGAGGAGCCAAGATGGCCGAATAGGAAC AGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTC TGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACA GTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGC GAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCC GAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCA CCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGA CTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTG ATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAGCGAGGCTG GGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGC CGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCT GCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGAC AGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAG AGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTG CCTCCTCAAGTGGGTCCCTGACTCCTGACCCCCGAGCAGCCTAACTGGGA GGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCA ACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCA GAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGA CCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAAC TGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTT CCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTG AGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACAT TCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAAT GTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAG CTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAG CCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGA ATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAAT GAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACG TCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAA ACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAG GCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTC GAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAA TGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTC AAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACA AGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATT TTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGA GAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCAC CAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGA ACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCG AGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACAT CATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAA ATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAG AGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAG AGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCCA ATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACA GACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAAT GGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATG CACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTA CAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCC ACTGTCAACATTAGACAGATCAATGAGACAGAAAGTCAACAAGGATACCC AGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGA ACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCA CACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCA AATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCA ATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTAC ATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAA TGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACC ACATACCAGAATCTCTGGGACGCACTCAAAGCAGTGTGTAGAGGGAAATT TATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACA CCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCA AAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGA AATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGT TTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAG AAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGA TATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACA AACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTC CTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCT GAATCGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTAC CAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAG AGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAAT AGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATAC TGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCA ATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAA CCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCT TCATCCCTGGGATGCAAGGCTGGTTCAATACACGCAAATCAATAAATGTA ATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAAT AGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAA CTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGGT ATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGA AGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCAC TCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAG AAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCT GTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCC AAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAA ATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAAC AGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAA TAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAG GAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATG GAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGG CCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTA CCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATG GAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACA AAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACA GTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATG GAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGA TCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTT AATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACT GGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAG ATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGC ATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACC AAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTCAAC TAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAA CCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCT AATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAA ACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAA GAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACAC CAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGA GGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAT GAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC GGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGTAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA AAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATATGAA AAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | HG02602.hp2 HG02602.hp2 |
a0001 | a0001c0039 | a0001c0039t0001 | a0001c0039t0001g0064 | 1 | 340 | 0.0029 | 6115 | c.278 others(6134): Show c.2787+1116_2787+1117insTTTTTTTTTTTTTTTTTTCATATTCT TCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTTTTT TTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGT TACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTGTC ATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGAC CCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGAT CTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGTTTT TTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATG TCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCC ATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGGCA TTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACA TACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTAT ATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATC CCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGT CCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCAC CTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATG ATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATG AGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAG TGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTT CTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGT CAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTC ACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTGAATTAG ATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGG ACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTT TCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATCCA TCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCT TTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAA TCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTT GTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTA TATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTG TAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTG GCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAACT TTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATG GGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTCAC GATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTTTG TCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGG TCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGA AGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGT TGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATCCT GAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGAC GATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAATT TGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCCTG ATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAGAG AGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTTTT GCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATACCTCTTATT ATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGCAT GAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGATAA TCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTATT GATTTGCGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACTTG ATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTA TTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAAAA TTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGATGCT GGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTGGA ATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAGAAT TCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTATT GATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAGATTCAA CTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTATCC ATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTC TCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTTAT CATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTAGT CTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTCCT GGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTT CTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTT TGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATTTT GGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCCTC TACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTG TTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTATG TACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGC GGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGTGG TCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGGAG AGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTG CTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATG TCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATCCTT GTTGACTTTCTGTCTCATTGATCTGTCTAATGTTGACAGTGGGGTGTTAA AGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTG AGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATATT TAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTAAT GGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCA GAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTA GATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGTGA GATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCCAA CTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTTAA AGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGCTG GTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTT TACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCAT GTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAA AATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCACTT ATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTTTC TTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTT CTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACC CGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACTTT GGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATC TTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTGCT AGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAACTT GGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATTTG GTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTTTT ATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCATC TTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGC TTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGC TCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCTAA ATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCC GTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCA AAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTC CTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGT TCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGATGA TGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTTAG TTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATACCC TGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTTAG GCTGCTCGGGGGTCAGGAGTCAGGGACCCACTTGAGGAGGCAGTCTGCCC GTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCAAAG CTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTTGT TTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGCCT CCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTTTGT TTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCGCT GCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGATT CCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTGGTG CGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTGAC CCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGGAA CTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCTTC GGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGCAC TCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCG TCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTC GGCCATCTTGGCTCCTCCCCTCCATTATTTACTCATTCT |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | ||||||
FCRL5_chr1_157508377_157557515 | 157548334 | T T |
TAAGAAAA others(6109): Show TAAGAAAACCTAGGCAGGGGGAGGAGCCAAGATGGCCGAATAGGAACAGC TCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTCTGC ATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACAGTG GGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGCGAG GCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCCGAG TCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCACCC GAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGACTA TATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTGATT GCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTGGGG GAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGCCGG GAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCTGCC TCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGACAGC AGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAGAGC AGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTGCCT CCTCAAGTGGGTCCCTGACTCCTGACCCCCGAGCAGCCTAACTGGGAGGC ACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCAACA GACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCAGAA AGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGACCA AAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAACTGG AAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTTCCT CACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTGAGA GAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACATTCA AACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATGTA TAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGCTG AAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAGCCG ATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGAATG AAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATGAG CAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACGTCT GATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAAACA CTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGGCC AACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTCGAG AAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAATGA AGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCAAA GGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACAAGC CAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATTTTC AACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAGAA ATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCACCAG GCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAACA ACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCGAGA CTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACATCAT AATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAAATG GACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAGAGT CAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAGAGA CACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCCAATG GAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAGAC TTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAATGGT AAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATGCAC CCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTACAA AGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCCACT GTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCCAGG AATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGAACT CTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCACAC CTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAAAT GTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCAATC AAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTACATG GAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAATGA AGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACCACA TACCAGAATCTCTGGGACGCACTCAAAGCAGTGTGTAGAGGGAAATTTAT AGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACACCC TAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAA GCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGAAAT AGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTTTT TTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAA AAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGATAT CACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACAAAC ACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTCCTC GACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTGAA TCGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTACCAA CCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAGAGG TACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGA AAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATACTGA TACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCAATA TCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCG AATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCTTCA TCCCTGGGATGCAAGGCTGGTTCAATATACGCAAATCAATAAATGTAATC CAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAATAGA TGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAACTC TCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCTATC TATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGAAGC ATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCACTCC TATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGAAG GAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTGTT TGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCCAAA ATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAAATC AATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAACAGA GAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAATAA AATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAGGAG AACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATGGAA GAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGGCCA TACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTACCA ATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGGAA CCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACAAAG CTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACAGTA ACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGGAA CAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGATCT TTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTTAAT AAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTGGA TCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGATT TAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCATT ACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAA AGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAA AGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCT ACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTAAT ATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACA ACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAGAA GACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTGGC CATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACCAG TTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAGGA TGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTAGT TCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACTAG AAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATGAG TATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCAGC ACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAATGA TAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATGCA GCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAATT GGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACACC GCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGACAC AGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGGGG GGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGTGG GTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCACA ATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAAAA AAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATAAAAAAA AAAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | HG02145.hp2 HG02280.hp1 HG02717.hp2 others(2): Show HG02145.hp2 HG02280.hp1 HG02717.hp2 HG03195.hp1 NA19240.hp2 |
a0009 | a0009c0010 | a0009c0010t0001a0009c0010t0002 | a0009c0010t0001g0233a0009c0010t0002g0234a0009c0010t0002g0246others(2): Show | 5 | 366 | 0.0137 | 6116 | c.53- others(6131): Show c.53-1138_53-1137insTTTTTTTTTTTTTTTTTTTTTTTTATTCTT CTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTTTTTT TTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGT TACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTGTC ATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGAC CCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGAT CTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTT TTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATG TCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCC ATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGGCA TTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCTGCAATAAACA TACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTAT ATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATC CCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGT CCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCAC CTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATG ATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATG AGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAG TGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTT CTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGT CAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTC ACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAG ATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGG ACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTT TCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATCCA TCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCT TTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAA TCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTT GTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTA TATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTG TAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTG GCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAACT TTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATG GGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTCAC GATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTTTG TCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGG TCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGA AGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGT TGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATCCT GAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGAC GATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAATT TGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCCTG ATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAGAG AGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTTTT GCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTTATT ATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGCAT GAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGATAA TCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTATT GATTTGCGTATATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACTTG ATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTA TTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAAAA TTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGATGCT GGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTGGA ATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAGAAT TCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTATT GATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAGATTCAA CTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTATCC ATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTC TCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTTAT CATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTAGT CTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTCCT GGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTT CTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTT TGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATTTT GGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCCTC TACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTG TTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTATG TACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGC GGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGTGG TCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGGAG AGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTG CTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATG TCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATCCTT GTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTTAA AGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTG AGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATATT TAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTAAT GGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCA GAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTA GATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGTGA GATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCCAA CTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTTAA AGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGCTG GTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTT TACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCAT GTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAA AATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCACTT ATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTTTC TTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTT CTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACC CGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACTTT GGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATC TTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTGCT AGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAACTT GGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATTTG GTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTTTT ATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCATC TTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGC TTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGC TCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCTAA ATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCC GTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCA AAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTC CTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGT TCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGATGA TGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTTAG TTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATACCC TGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTTAG GCTGCTCGGGGGTCAGGAGTCAGGGACCCACTTGAGGAGGCAGTCTGCCC GTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCAAAG CTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTTGT TTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGCCT CCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTTTGT TTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCGTT GCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGATT CCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTGGTG CGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTGAC CCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGGAA CTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCTTC GGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGCAC TCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCG TCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTC GGCCATCTTGGCTCCTCCCCCTGCCTAGGTTTTCTT |
FCRL5 | ENSG00000143297.19 | transcript | ENST00000361835.8 | protein_coding | 2/16 | chr1 | TogoVar | ||||||
RALYL_chr8_84178274_84926844 | 84516373 | T T |
TTAAAAGC others(6109): Show TTAAAAGCCAAATCCGGGGGGAGGAGCCAAGATGGCCGAATAGGAACAGC TCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTCTGC ATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACAGTG GGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGCGAG GCATTGCCTCACCTGGGAAGTGCAAGGGGTCAGGGAGTTCCCTTTCCGAG TCAAAGAAAGGGGTGACGGTCGCACCTGGAAAATCGGGTCACTCCCACCC GAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGACTA TATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTGATT GCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTGGGG GAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGCCGG GAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCTGCC TCTGAAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGACAGC AGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAGAGC AGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACAGACT GCCTCCTCAAGTGGGTCCCTGACTCCTGACCCCCGAGCAGCCTAACTGGG AGGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCC AACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACC AGAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAG ACCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAA CTGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGT TCCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCT GAGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACA TTCAAAACAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAA TGTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGA GCTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGA GCCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATG AATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAA TGAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTAC GTCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAA AACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCA GGCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCT CGAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAA ATGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCT CAAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTAC AAGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAAT TTTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGG AGAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCA CCAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGG AACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATC GAGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACA TCATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATA AATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAA GAGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCA GAGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCA AATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAAC AGACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAA TGGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTAT GCACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCT ACAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCC CACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACC CAGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAG AACTCTCCACCACAAATCAACAGAATATACCTTTTTTTCAGCACCACACC ACACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGC AAATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGC AATCAAACTACAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTA CATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAA ATGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAATAAAGACAC CACATACCAGAATCTCTGGGACGCATTCAAAGCAGTGTGTAGAGGGAAAT TTATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGAC ACCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTC AAAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGG AAATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGG TTTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAA GAAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGG ATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTAC AAACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATT CCTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTC TGAATAGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTA CCAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCA GAGGTACATGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAA TAGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATT CTGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACC AATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAA ACCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGC TTCATCCCTGGGATGCAAGGCTGGTTCAATATACGCAAATCAATAAATGT AATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAA TAGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAA ACTCTCAATAAATTAGGTATTGATGGGACGTATTTTAAAATAATAAGAGC TATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGG AAGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCG CTCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGA GAAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCC TGTTTGCAGACGACATGATTGTATATCTAGAAAACCCCATCGTCTCAGCC CAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAA AATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAA CAGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGA ATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAA GGAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAAT GGAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATG GCCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCT ACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATAT GGAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAAC AAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTAC AGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAAT GGAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTG ATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATT TAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAAC TGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAA GATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGG CATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACAC CAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAA CTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCA ACCTACAACATGGGAGAAAATTTTCGCAACCTACTCATCTGACAAAGGGC TAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACA AACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAA AGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCAC TGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACA CCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAG AGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAAC TAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAA CTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAA TGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTG CGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACA ATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTA TGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGA AATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAA CACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGG ACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGA GGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTA GTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTG CACAATGTGCACATGTACCCTAAAACTTAGAGAATAATAAAAAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACATACAAAAAAAAAAAAAA ATAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | HG02922.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 82 | 0.0122 | 6116 | c.-23 others(6135): Show c.-23-12912_-23-12911insGGGGGGAGGAGCCAAGATGGCCGAAT AGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGT GATTTCTGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGC CAGACAGTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAG CAGGGCGAGGCATTGCCTCACCTGGGAAGTGCAAGGGGTCAGGGAGTTCC CTTTCCGAGTCAAAGAAAGGGGTGACGGTCGCACCTGGAAAATCGGGTCA CTCCCACCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACC ACGAGACTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATC TCGCTGATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACG AGGCTGGGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAA AGCAGCCGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGC CTGCCTGCCTCTGAAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAA AAAGACAGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTT GAAGAGAGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGC AGACAGACTGCCTCCTCAAGTGGGTCCCTGACTCCTGACCCCCGAGCAGC CTAACTGGGAGGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCA GGGTATTCCAACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAA CTAACAACCAGAAAGGACATCTACACCGAAAACCCATCTGTACATCACCA TCATCAAAGACCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGA ACAGAAAAACTGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAG GAACGCAGTTCCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTT TGACGAGCTGAGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTAC GGGAGGACATTCAAAACAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAAT TTAGAAGAATGTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGA GCTGATGGAGCTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAA GCCTCAGGAGCCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAA GATGAAATGAATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAAT AAAAAGAAATGAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGAC CAAATCTACGTCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACC AAGTTGGAAAACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCT AGCAAGGCAGGCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAA GATACTCCTCGAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACC AAAGTTGAAATGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCG GGTTACCCTCAAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAG AAACCCTACAAGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAA GAAAAGAATTTTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCAT AAGTGAAGGAGAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATT TTGTCACCACCAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAAC ATGGAAAGGAACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTA AAGACCATCGAGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCAC CAGCTAACATCATAATGACAGGATCAAATTCACACATAACAATATTAACT TTAAATATAAATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAG TTGGATAAAGAGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATC TCACGTGCAGAGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATC TACCAAGCAAATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTC TGATAAAACAGACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCC ATTACATAATGGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTA AATATTTATGCACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCT CAGTGACCTACAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACT TTAACACCCCACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAAC AAGGATACCCAGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGA CATCTACAGAACTCTCCACCACAAATCAACAGAATATACCTTTTTTTCAG CACCACACCACACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCT CTCCTCAGCAAATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGA CCACAGTGCAATCAAACTACAACTCAGGATTAAGAATCTCACTCAAAGCC GCTCAACTACATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTA CATAACGAAATGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAA TAAAGACACCACATACCAGAATCTCTGGGACGCATTCAAAGCAGTGTGTA GAGGGAAATTTATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCC AAAATTGACACCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCA AACACATTCAAAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAG AACTGAAGGAAATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCC AGGAGCTGGTTTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAG ACTAATAAAGAAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATG ATAAAGGGGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGA GAATACTACAAACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAAT GGATACATTCCTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAG TTGAATCTCTGAATAGACCAATAACAGGCTCTGAAATTGTGGCAATAATC AATAGTTTACCAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGA ATTCTACCAGAGGTACATGGAGGAACTGGTACCATTCCTTCTGAAACTAT TCCAATCAATAGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCC AGCATCATTCTGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAA TTTTAGACCAATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAA TACTGGCAAACCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGAT CAAGTGGGCTTCATCCCTGGGATGCAAGGCTGGTTCAATATACGCAAATC AATAAATGTAATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGA TTATCTCAATAGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTC ATGCTAAAAACTCTCAATAAATTAGGTATTGATGGGACGTATTTTAAAAT AATAAGAGCTATCTATGACAAACCCACAGCCAATATCATACTGAATGGGC AAAAACTGGAAGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCT CTCTCACCGCTCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAAT CAGGCAGGAGAAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCA AATTGTCCCTGTTTGCAGACGACATGATTGTATATCTAGAAAACCCCATC GTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTC AGGATACAAAATCAATGTACAAAAATCACAAGCATTCTTATACACCAACA ACAGACAAACAGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCT TCAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGA CCTCTTCAAGGAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGA CAAACAAATGGAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATC GTGAAAATGGCCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCC CATCAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAA AGTTCATATGGAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGC CAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTA CAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATA TAGATCAATGGAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTAC AACTATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGA TTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAA AGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGA TGGATTAAAGATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGA AAACCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGT CCAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGAT CTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGT GAACAGGCAACCTACAACATGGGAGAAAATTTTCGCAACCTACTCATCTG ACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAG AAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACA CTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCT CATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATAT CATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAG GTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGG ACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGG GATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTAT ATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTA TGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAA TGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCAT GGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGA CATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAA AAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAG ATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGG GTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGAT GACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTA ACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGAATAATAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACATACAAAAA AAAAAAAAAATAAAAAAAAAAAAAAATAAAAGCCAAATCC |
RALYL | ENSG00000184672.12 | transcript | ENST00000521268.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
RALYL_chr8_84178274_84926844 | 84516373 | T T |
TTAAAAGC others(6109): Show TTAAAAGCCAAATCCGGGGGGAGGAGCCAAGATGGCCGAATAGGAACAGC TCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTCTGC ATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACAGTG GGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGCGAG GCATTGCCTCACCTGGGAAGTGCAAGGGGTCAGGGAGTTCCCTTTCCGAG TCAAAGAAAGGGGTGACGGTCGCACCTGGAAAATCGGGTCACTCCCACCC GAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGACTA TATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTGATT GCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTGGGG GAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGCCGG GAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCTGCC TCTGAAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGACAGC AGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAGAGC AGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACAGACT GCCTCCTCAAGTGGGTCCCTGACTCCTGACCCCCGAGCAGCCTAACTGGG AGGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCC AACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACC AGAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAG ACCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAA CTGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGT TCCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCT GAGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACA TTCAAAACAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAA TGTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGA GCTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGA GCCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATG AATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAA TGAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTAC GTCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAA AACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCA GGCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCT CGAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAA ATGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCT CAAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTAC AAGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAAT TTTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGG AGAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCA CCAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGG AACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATC GAGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACA TCATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATA AATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAA GAGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCA GAGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCA AATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAAC AGACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAA TGGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTAT GCACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCT ACAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCC CACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACC CAGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAG AACTCTCCACCACAAATCAACAGAATATACCTTTTTTTCAGCACCACACC ACACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGC AAATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGC AATCAAACTACAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTA CATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAA ATGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAATAAAGACAC CACATACCAGAATCTCTGGGACGCATTCAAAGCAGTGTGTAGAGGGAAAT TTATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGAC ACCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTC AAAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGG AAATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGG TTTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAA GAAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGG ATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTAC AAACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATT CCTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTC TGAATAGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTA CCAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCA GAGGTACATGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAA TAGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATT CTGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACC AATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAA ACCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGC TTCATCCCTGGGATGCAAGGCTGGTTCAATATACGCAAATCAATAAATGT AATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAA TAGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAA ACTCTCAATAAATTAGGTATTGATGGGACGTATTTTAAAATAATAAGAGC TATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGG AAGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCG CTCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGA GAAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCC TGTTTGCAGACGACATGATTGTATATCTAGAAAACCCCATCGTCTCAGCC CAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAA AATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAA CAGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGA ATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAA GGAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAAT GGAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATG GCCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCT ACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATAT GGAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAAC AAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTAC AGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAAT GGAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTG ATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATT TAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAAC TGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAA GATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGG CATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACAC CAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAA CTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCA ACCTACAACATGGGAGAAAATTTTCGCAACCTACTCATCTGACAAAGGGC TAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACA AACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAA AGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCAC TGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACA CCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAG AGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAAC TAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAA CTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAA TGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTG CGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACA ATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTA TGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGA AATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAA CACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGG ACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGA GGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTA GTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTG CACAATGTGCACATGTACCCTAAAACTTAGAGAATAATAAAAAAAAAAAA AAAGAAAAAAAAAAAAAAAAAAAAAAAAAGACATACAAAAAAAAAAAAAA ATAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | NA18906.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 82 | 0.0122 | 6116 | c.-23 others(6135): Show c.-23-12912_-23-12911insGGGGGGAGGAGCCAAGATGGCCGAAT AGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGT GATTTCTGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGC CAGACAGTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAG CAGGGCGAGGCATTGCCTCACCTGGGAAGTGCAAGGGGTCAGGGAGTTCC CTTTCCGAGTCAAAGAAAGGGGTGACGGTCGCACCTGGAAAATCGGGTCA CTCCCACCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACC ACGAGACTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATC TCGCTGATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACG AGGCTGGGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAA AGCAGCCGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGC CTGCCTGCCTCTGAAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAA AAAGACAGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTT GAAGAGAGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGC AGACAGACTGCCTCCTCAAGTGGGTCCCTGACTCCTGACCCCCGAGCAGC CTAACTGGGAGGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCA GGGTATTCCAACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAA CTAACAACCAGAAAGGACATCTACACCGAAAACCCATCTGTACATCACCA TCATCAAAGACCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGA ACAGAAAAACTGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAG GAACGCAGTTCCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTT TGACGAGCTGAGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTAC GGGAGGACATTCAAAACAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAAT TTAGAAGAATGTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGA GCTGATGGAGCTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAA GCCTCAGGAGCCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAA GATGAAATGAATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAAT AAAAAGAAATGAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGAC CAAATCTACGTCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACC AAGTTGGAAAACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCT AGCAAGGCAGGCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAA GATACTCCTCGAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACC AAAGTTGAAATGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCG GGTTACCCTCAAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAG AAACCCTACAAGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAA GAAAAGAATTTTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCAT AAGTGAAGGAGAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATT TTGTCACCACCAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAAC ATGGAAAGGAACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTA AAGACCATCGAGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCAC CAGCTAACATCATAATGACAGGATCAAATTCACACATAACAATATTAACT TTAAATATAAATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAG TTGGATAAAGAGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATC TCACGTGCAGAGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATC TACCAAGCAAATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTC TGATAAAACAGACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCC ATTACATAATGGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTA AATATTTATGCACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCT CAGTGACCTACAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACT TTAACACCCCACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAAC AAGGATACCCAGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGA CATCTACAGAACTCTCCACCACAAATCAACAGAATATACCTTTTTTTCAG CACCACACCACACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCT CTCCTCAGCAAATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGA CCACAGTGCAATCAAACTACAACTCAGGATTAAGAATCTCACTCAAAGCC GCTCAACTACATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTA CATAACGAAATGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAA TAAAGACACCACATACCAGAATCTCTGGGACGCATTCAAAGCAGTGTGTA GAGGGAAATTTATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCC AAAATTGACACCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCA AACACATTCAAAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAG AACTGAAGGAAATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCC AGGAGCTGGTTTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAG ACTAATAAAGAAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATG ATAAAGGGGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGA GAATACTACAAACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAAT GGATACATTCCTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAG TTGAATCTCTGAATAGACCAATAACAGGCTCTGAAATTGTGGCAATAATC AATAGTTTACCAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGA ATTCTACCAGAGGTACATGGAGGAACTGGTACCATTCCTTCTGAAACTAT TCCAATCAATAGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCC AGCATCATTCTGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAA TTTTAGACCAATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAA TACTGGCAAACCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGAT CAAGTGGGCTTCATCCCTGGGATGCAAGGCTGGTTCAATATACGCAAATC AATAAATGTAATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGA TTATCTCAATAGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTC ATGCTAAAAACTCTCAATAAATTAGGTATTGATGGGACGTATTTTAAAAT AATAAGAGCTATCTATGACAAACCCACAGCCAATATCATACTGAATGGGC AAAAACTGGAAGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCT CTCTCACCGCTCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAAT CAGGCAGGAGAAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCA AATTGTCCCTGTTTGCAGACGACATGATTGTATATCTAGAAAACCCCATC GTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTC AGGATACAAAATCAATGTACAAAAATCACAAGCATTCTTATACACCAACA ACAGACAAACAGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCT TCAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGA CCTCTTCAAGGAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGA CAAACAAATGGAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATC GTGAAAATGGCCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCC CATCAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAA AGTTCATATGGAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGC CAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTA CAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATA TAGATCAATGGAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTAC AACTATCTGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGA TTCCCTATTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAA AGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGA TGGATTAAAGATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGA AAACCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGT CCAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGAT CTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGT GAACAGGCAACCTACAACATGGGAGAAAATTTTCGCAACCTACTCATCTG ACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAG AAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACA CTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCT CATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATAT CATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAG GTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGG ACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGG GATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTAT ATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTA TGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAA TGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCAT GGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGA CATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAA AAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAG ATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGG GTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGAT GACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTA ACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGAGAATAATAAA AAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAGACATACAAAAA AAAAAAAAAATAAAAAAAAAAAAAAATAAAAGCCAAATCC |
RALYL | ENSG00000184672.12 | transcript | ENST00000521268.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
REELD1_chr4_146209538_146237267 | 146220471 | T T |
TTAATTTT others(6109): Show TTAATTTTCTCTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTCATATTCTT CTTTGTTTTATTTATAATTTTTTTTTTTTACAATTCTTTTTTTTTTTTTT TTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGT TACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTGTC ATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGAC CCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGAT CTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGTTTT TTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATG TCGCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCC ATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGGCA TTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACA TACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTAT ATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATC CCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGT CCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCAC CTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATG ATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATG AGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAG TGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTT CTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGT CAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTC ACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTGAATTAG ATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGG ACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTT TCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATCCA TCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCT TTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAA TCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTT GTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTA TATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTG TAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTG GCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAACT TTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATG GGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTCAC GATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTTTG TCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGG TCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGA AGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGT TGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATCCT GAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGAC GATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAATT TGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCCTG ATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAGAG AGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTTTT GCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATACCTCTTATT ATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGCAT GAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGATAA TCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTATT GATTTGCGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACTTG ATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTA TTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAAAA TTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGATGCT GGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTGGA ATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAGAAT TCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTATT GATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAGATTCAA CTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTATCC ATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTC TCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTTAT CATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTAGT CTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTCCT GGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTT CTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTT TGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATTTT GGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCCTC TACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTG TTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTATG TACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGC GGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGTGG TCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGGAG AGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTG CTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATG TCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATCCTT GTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTTAA AGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTG AGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATATT TAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTAAT GGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCA GAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTA GATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGTGA GATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCCAA CTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTTAA AGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGCTG GTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTT TACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCAT GTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAA AATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCACTT ATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTTTC TTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTT CTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACC CGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCTTTCATTTCAACTTT GGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATC TTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTGCT AGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAACTT GGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATTTG GTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTTTT ATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCATC TTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGC TTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGC TCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCTAA ATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCC GTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCA AAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTC CTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGT TCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGATGA TGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTTAG TTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATACCC TGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTTAG GCTGCTCGGGGGTCAGGAGTCAGGGACCCACTTGAGGAGGCAGTCTGCCC GTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCAAAG CTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTTGT TTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGCCT CCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTTTGT TTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCGTT GCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGATT CCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTGGTG CGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTGAC CCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGGAA CTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCTTC GGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGCAC TCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCG TCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTC GGCCATCTTGGCTCCTC |
intron_variant intron_variant |
MODIFIER | NA18943.hp1 NA18943.hp1 |
a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0054 | 1 | 434 | 0.0023 | 6116 | c.209 others(6133): Show c.209-1872_209-1871insTTTTTTTTTTTTTTTTTTTTTTTTTTCA TATTCTTCTTTGTTTTATTTATAATTTTTTTTTTTTACAATTCTTTTTTT TTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCA GGTTAGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTA ATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTC CCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCC ATGTGATCTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTT TGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTC ATCCATGTCGCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATA GTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTG TTGGGCATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCA ATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATT TGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTT CTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGT TTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCT CCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTG TGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGT GATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTT TGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTG TTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGC CCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTG CCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTT GAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGT GTTTTGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCC TAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTT TAATCCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGT TTCAGCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAA TAGGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCA GATAGTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCAT TGATCTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGT AGCCTTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGT TCTTTTGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCAT ATGAACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAG CTTGATGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCA TTTTCACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCAT TTGTTTGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTT GAAGAGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTC TCTTTGAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTT TGTCTGTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTT GTATCCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGG CTGAGACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGG GACAATTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTC CTGCCTGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTG GTGAGAGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCC AGTTTTTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATACC TCTTATTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTT TTAGCATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATT GAGATAATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTAC ATTTATTGATTTGCGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGC CCACTTGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTT GCCAGTATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGG TCTAAAATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTA TGATGCTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATT GATTGGAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTG GTAGAATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTA AACTATTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGA GATTCAACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAA TGTATCCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGT AGTATTCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCC CCTTTATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTT TATTAGTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACC AGCTCCTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCC TTCAGTTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGA ATGTGTTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGT CAATTTTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAAT TTCCCTCTACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGT GTCTTTGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTT CGTTATGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTA GTTGAGCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGC ACTGTGGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGC TGAGGAGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGG TGTGGTGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCT GTAGATGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGG TATCCTTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGG GTGTTAAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAG GTCACTGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCAT AAATATTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATT ATGTAATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGT TTTATCAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGG CTTGGTAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTG CACGTGAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTT TATCCAACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTA TATTTAAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATG TTAGCTGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGA TGGTCTTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCC TTTCCATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTG GTGACAAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCC TTCACTTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAAT TCTTTTCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGT AGGGTTTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAG GGTAACCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCTTTCATTT CAACTTTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAG GAGTATCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTG CCTTGCTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTT CCAACTTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGT AGATTTGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATT TCTTTTTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCA TTTCATCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTC CTGAGGCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTC CATCAGCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATT CTTCTAAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATG TCCTCCCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAG CTCGTCAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAAC TGCGTTCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTT TTTCTGTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCT TTGATGATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGG TTGTTAGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGG AATACCCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCC CAGTTAGGCTGCTCGGGGGTCAGGAGTCAGGGACCCACTTGAGGAGGCAG TCTGCCCGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTC TTCAAAGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTC TTTTTGTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGG CAGGCCTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCT GCTTTGTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAG CCTCGTTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAG CGAGATTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCT CGTGGTGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGG GAGTGACCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGA AAGGGAACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCC CTGCTTCGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGT CTGGCACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAA ATCACCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTT CCTATTCGGCCATCTTGGCTCCTCTAATTTTCTCTCTT |
REELD1 | ENSG00000250673.3 | transcript | ENST00000623665.2 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SCN5A_chr3_38543062_38654687 | 38584574 | C C |
CAGAATGA others(6109): Show CAGAATGAGTAAATAATGGAGGGGAGGAGCCAAGATGGCCGAATAGGAAC AGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTC TGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACA GTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGC GAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCC GAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCA CCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGA CTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTG ATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTG GGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGC CGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCT GCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGAC AGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAG AGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTG CCTCCTCAAGTGGGTCCCTGACCCCTGACCCCCGAGCAGCCTAACTGGGA GGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCA ACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCA GAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGA CCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAAC TGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTT CCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTG AGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACAT TCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAAT GTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAG CTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAG CCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGA ATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAAT GAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACG TCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAA ACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAG GCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTC GAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAA TGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTC AAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACA AGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATT TTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGA GAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCAC CAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGA ACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCG AGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACAT CATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAA ATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAG AGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAG AGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCCA ATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACA GACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAAT GGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATG CACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTA CAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCC ACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCC AGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGA ACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCA CACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCA AATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCA ATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTAC ATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAA TGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACC ACATACCAGAATCTCTGGGACGCACTCAAAGCAGTGTGTAGAGGGAAATT TATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACA CCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCA AAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGA AATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGCT TTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAG AAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGA TATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACA AACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTC CTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCT GAATCGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTAC CAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAG AGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAAT AGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATAC TGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCA ATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAA CCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCT TCATCCCTGGGATGCAAGGCTGGTTCAATACACGCAAATCAATAAATGTA ATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAAT AGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAA CTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCT ATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGA AGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCAC TCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAG AAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCT GTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCC AAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAA ATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAAC AGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAA TAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAG GAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATG GAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGG CCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTA CCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATG GAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACA AAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACA GTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATG GAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGA TCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTT AATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACT GGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAG ATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGC ATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACC AAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAAC TAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAA CCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCT AATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAA ACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAA GAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACAC CAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGA GGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAT GAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC GGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGTAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA AAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATATGAAA AAAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | HG02165.hp1 HG02165.hp1 |
a0013 | a0013c0037 | a0013c0037t0002 | a0013c0037t0002g0051 | 1 | 340 | 0.0029 | 6116 | c.278 others(6135): Show c.2787+1116_2787+1117insTTTTTTTTTTTTTTTTTTTTCATATT CTTCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTTT TTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAG TTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTGT CATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGA CCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGA TCTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGTTT TTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCAT GTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTC CATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGGC ATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAAC ATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTA TATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGAT CCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAG TCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCA CCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGAT GATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGAT GAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAA GTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTT TCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTG TCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTT CACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTA GATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTG GACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTT TTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATCC ATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGC TTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGA ATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGT TGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCT ATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTT GTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTT GGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAAC TTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGAT GGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTCA CGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTTT GTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAG GTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTTG AAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCTG TTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATCC TGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGA CGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAAT TTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCCT GATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAGA GAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTTT TGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTTAT TATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGCA TGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGATA ATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTAT TGATTTGCGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACTT GATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAGT ATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAAA ATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGATGC TGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTGG AATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAGAA TTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTAT TGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAGATTCA ACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTATC CATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTATT CTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTTA TCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTAG TCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAAGCAGCTCC TGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGT TCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTGT TTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATTT TGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCCT CTACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCTTT GTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTAT GTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAG CGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGTG GTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGGA GAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGGT GCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGAT GTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATCCT TGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTTA AAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACT GAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATAT TTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTAA TGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTATC AGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGT AGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGTG AGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCCA ACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTTA AAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGCT GGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTCT TTACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCA TGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACA AAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCACT TATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTTT CTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTT TCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAAC CCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACTT TGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTAT CTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTGC TAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAACT TGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATTT GGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTTT TATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCAT CTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAGG CTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAG CTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCTA AATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTCC CGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTC AAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTT CCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTG TTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGATG ATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTTA GTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATACC CTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTTA GGCTGCTCGGGGGTCAGGGGTCAGGGACCCACTTGAGGAGGCAGTCTGCC CGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCAAA GCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTTG TTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGCC TCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTTTG TTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCGT TGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGAT TCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTGGT GCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTGA CCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGGA ACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCTT CGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGCA CTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACC GTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATT CGGCCATCTTGGCTCCTCCCCTCCATTATTTACTCATTCT |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C C |
CAGAATGA others(6109): Show CAGAATGAGTAAATAATGGAGGGGAGGAGCCAAGATGGCCGAATAGGAAC AGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTC TGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACA GTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGC GAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCC GAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCA CCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGA CTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTG ATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTG GGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGC CGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCT GCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGAC AGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAG AGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTG CCTCCTCAAGTGGGTCCCTGACTCCTGACCCCCGAGCAGCCTAACTGGGA GGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCA ACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCA GAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGA CCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAAC TGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTT CCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTG AGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACAT TCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAAT GTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAG CTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAG CCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGA ATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAAT GAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACG TCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAA ACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAG GCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTC GAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAA TGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTC AAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACA AGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATT TTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGA GAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCAC CAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGA ACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCG AGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACAT CATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAA ATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAG AGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAG AGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCCA ATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACA GACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAAT GGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATG CACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTA CAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCC ACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCC AGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGA ACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCA CACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCA AATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCA ATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTAC ATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAA TGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACC ACATACCAGAATCTCTGGGACGCACTCAAAGCAGTGTGTAGAGGGAAATT TATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACA CCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCA AAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGA AATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGT TTTTTGAAAGGATCAACAAAATTGATAGACCACTAGCAAGACTAATAAAG AAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGA TATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACA AACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTC CTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCT GAATCGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTAC CAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAG AGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAAT AGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATAC TGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCA ATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAA CCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCT TCATCCCTGGGATGCAAGGCTGGTTCAATACACACAAATCAATAAATGTA ATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAAT AGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAA CTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCT ATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGA AGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCAC TCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAG AAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCT GTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCC AAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAA ATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAAC AGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAA TAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAG GAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATG GAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGG CCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTA CCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATG GAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACA AAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACA GTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATG GAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGA TCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTT AATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACT GGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAG ATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGC ATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACC AAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAAC TAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAA CCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCT AATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAA ACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAA GAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACAC CAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGA GGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAT GAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC GGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGTAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA AAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATATGAA AAAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | HG03225.hp2 HG03225.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0153 | 1 | 340 | 0.0029 | 6116 | c.278 others(6135): Show c.2787+1116_2787+1117insTTTTTTTTTTTTTTTTTTTCATATTC TTCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTTTT TTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAG TTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTGT CATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGA CCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGA TCTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGTTT TTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCAT GTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTC CATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGGC ATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAAC ATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTA TATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGAT CCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAG TCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCA CCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGAT GATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGAT GAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAA GTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTT TCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTG TCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTT CACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTA GATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTG GACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTT TTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATCC ATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGC TTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGA ATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGT TGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCT ATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTT GTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTT GGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAAC TTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGAT GGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTCA CGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTTT GTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAG GTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTTG AAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCTG TTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATCC TGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGA CGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAAT TTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCCT GATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAGA GAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTTT TGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTTAT TATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGCA TGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGATA ATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTAT TGATTTGTGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACTT GATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAGT ATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAAA ATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGATGC TGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTGG AATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAGAA TTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTAT TGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAGATTCA ACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTATC CATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTATT CTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTTA TCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTAG TCTTGCTAGTGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTCC TGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGT TCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTGT TTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATTT TGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCCT CTACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCTTT GTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTAT GTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAG CGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGTG GTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGGA GAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGGT GCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGAT GTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATCCT TGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTTA AAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACT GAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATAT TTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTAA TGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTATC AGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGT AGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGTG AGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCCA ACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTTA AAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGCT GGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTCT TTACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCA TGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACA AAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCACT TATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTTT CTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTT TCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAAC CCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACTT TGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTAT CTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTGC TAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAACT TGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATTT GGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTTT TATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCAT CTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAGG CTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAG CTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCTA AATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTCC CGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTC AAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTT CCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTG TTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGATG ATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTTA GTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATACC CTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTTA GGCTGCTCGGGGGTCAGGAGTCAGGGACCCACTTGAGGAGGCAGTCTGCC CGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCAAA GCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTTG TTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGCC TCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTTTG TTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCGT TGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGAT TCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTGGT GCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTGA CCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGGA ACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCTT CGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGCA CTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACC GTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATT CGGCCATCTTGGCTCCTCCCCTCCATTATTTACTCATTCT |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | ||||||
SNX7_chr1_98656721_98765500 | 98756375 | T T |
TTATAGAT others(6109): Show TTATAGATCCATATTTCTTTTTTTTTTTTTGAAAGGTAATAAAAGTATTT ATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTT TTATTATACTCTCAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTT ACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAATGTGTCA TCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACC CCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATC TCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTT TGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGT CCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCA TGGTGTATATGTGCCACATTTTCTTAATCCAGACTATCATTGTTGGACAT TTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACAT ACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCCTTTGGGTATA TACCTAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCC CTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTC CCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGCACC TGTTGTTTCCTGACTTTTTAATGATCGCCATTCTAACTGGTGTGAGATGA TATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGA GCATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGT GTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTC TTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTC AGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCA CTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGA TCCCATTTGTCAATTTTGGTTTTTGTTGCCATTGCTTTTGGTGTTTTGGA CATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTT CTTCTAGGGTTTTTATGGTTTTAGGTCTAACATTTAAGTCTTTAATCCAT CTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTT TCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAAT CCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTG TAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTAT ATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGT AGTACAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGG TTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAACTT TAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGG GGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTCACG ATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTTTGT GTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGT CCTTCACATCCCTTGTAAGTTGGATTCCTAAGTATTTTATTCTCTTTGAA GCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTT GTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATCCTG AGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGATG ATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAGACAGGGACAATTT GACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCCTGA TTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGCGGTGAGAGA GGGCATCCCTGTCTTGTGCCAGTTTTCAAAGGGAATGCTTCCAGTTTTTG CCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTTATTA TTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGCATG AAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGATAAT CATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTATTG ATTTGCGTATATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGA TCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTAT TTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAAAAT TCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTG GCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAA TAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAGAATT CGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTG ATTATTGCCACAATTTCAGAGCCTGTTATTGGTCTATTCAGAGATTCAAC TTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTTGAGGAATGTATCCA TTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCT CTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTTATC ATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTC TTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTG GATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTC TGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTT GCTCTTGCTTTTCTAGTTCTTTTAATTGTGACGTTAGGGTGTCAATTTTG GATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCT ACACACTGCTTTGAATGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTGT TCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTATGT ACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGCG GCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGT CTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGGAGA GTTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGC TGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGT CTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATCCTTG TTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAA GTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGA GGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATATTT AGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTAATG GCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTGAAGTCTGTTTTATCAG AGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTTGCTTGGTAG ATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAG ATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCCAAC TTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTTAAA GTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGCTGG TGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTT ACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATG TTTAGTGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAA ATCTCTCAGCATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCACTTA TGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTTTCT TTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTC TGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCC GACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACTTTG GTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCT TTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTA GATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAACTTG GTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATTTGG TCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTA TTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCATCT TCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCT TCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCT CCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCTAAA TTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCG TAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAA AATCATTCTCCATCCAGCTTTGTTCTGTTGCTAGTGAGGAACTGCGTTCC TTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTT CTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGATGAT GGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTTAGT TTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATACCCT GCCGTGTGAGGTGTCAGTGTGCCCTTGCTGGGTGGTGCCTCCCAGTTAGG CTGCTCGGGGGTCAGGGGTCAGGGACCCACTTGAGGAGGCAGTCTGCCCG TTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCAAAGC TGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTTGTT TGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGCCTC CTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTTTGTT TACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCGTTG CCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGATTC CGTGGGCGTAGGACCCTCTGAGCCAGGTGTGGGATATAGTCTCGTGGTGC GCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTGACC CGATTTTCCAGGTACGTCCGTCACCCCTTTCTTTGACTCGGAAAGGGAAC TCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCTTCG GCTTGCGCACGGTGCGCACACACACTGACCTGCGCCCACTGTCTGGCACT CCCTATTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCCG TCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTC GGCCATCTTGGCTCCTC |
intron_variant intron_variant |
MODIFIER | HG02132.hp1 HG02132.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0022 | 1 | 378 | 0.0027 | 6116 | c.127 others(6135): Show c.1279-3662_1279-3661insTTTTTTTTTTTTGAAAGGTAATAAAA GTATTTATTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTT TTTTTTTTATTATACTCTCAGTTTTAGGGTACATGTGCACATTGTGCAGG TTAGTTACATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACTAAT GTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCC CCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCAT GTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTG GTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCAT CCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGT ATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGACTATCATTGTT GGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAAT AAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATAGTCCTTTG GGTATATACCTAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCT AGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTT ACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCC AGCACCTGTTGTTTCCTGACTTTTTAATGATCGCCATTCTAACTGGTGTG AGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGA TGATGAGCATTTTTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTG AGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTT TTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCC TTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCC TGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTA ATTAGATCCCATTTGTCAATTTTGGTTTTTGTTGCCATTGCTTTTGGTGT TTTGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTA GGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTCTAACATTTAAGTCTTTA ATCCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTT CAGCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATA GGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGA TAGTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTG ATCTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAG CCTTGTAGTACAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTC TTTTGGTTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATAT GAACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCT TGATGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATT TTCACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTT GTTTGTGTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGA AGAGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAAGTATTTTATTCTC TTTGAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTG TCTGTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGT ATCCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCT GAGATGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAGACAGGGA CAATTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCT GCCTGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGCGGT GAGAGAGGGCATCCCTGTCTTGTGCCAGTTTTCAAAGGGAATGCTTCCAG TTTTTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTC TTATTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTT AGCATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGA GATAATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACAT TTATTGATTTGCGTATATTGAACCAGCCTTGCATCCCAGGGATGAAGCCC ACTTGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGC CAGTATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTC TAAAATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGAATG ATGCTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGA TTGGAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGT AGAATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAA CTATTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCTATTCAGAGA TTCAACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTTGAGGAATG TATCCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAG TATTCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCC TTTATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTA TTAGTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAG CTCCTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTT CAGTTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAAT GTGTTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGACGTTAGGGTGTCA ATTTTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTT CCCTCTACACACTGCTTTGAATGCGTCCCAGAGATTCTGGTATGTGGTGT CTTTGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCG TTATGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGT TGAGCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCAC TGTGGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTG AGGAGAGTTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTG TGGTGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGT AGATGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTA TCCTTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGT GTTAAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGT CACTGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAA ATATTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTAT GTAATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTGAAGTCTGTTT TATCAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTTGCT TGGTAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCA CGTGAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTA TCCAACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATA TTTAAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTT AGCTGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATG GTCTTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTT TCCATGTTTAGTGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGT GACAAAATCTCTCAGCATTTGCTTGTCTATAAAGTATTTTATTTCTCCTT CACTTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTC TTTTCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAG GGTTTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGG TAACCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCA ACTTTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGA GTATCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCC TTGCTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCC AACTTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAG ATTTGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTC TTTTTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATT TCATCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCT GAGGCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCA TCAGCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCT TCTAAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTC CTCCCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCT CGTCAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTAGTGAGGAACTG CGTTCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTT TCTGTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTT GATGATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTT GTTAGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAA TACCCTGCCGTGTGAGGTGTCAGTGTGCCCTTGCTGGGTGGTGCCTCCCA GTTAGGCTGCTCGGGGGTCAGGGGTCAGGGACCCACTTGAGGAGGCAGTC TGCCCGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTT CAAAGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTT TTTGTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCA GGCCTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGC TTTGTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCC TCGTTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCG AGATTCCGTGGGCGTAGGACCCTCTGAGCCAGGTGTGGGATATAGTCTCG TGGTGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGA GTGACCCGATTTTCCAGGTACGTCCGTCACCCCTTTCTTTGACTCGGAAA GGGAACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCT GCTTCGGCTTGCGCACGGTGCGCACACACACTGACCTGCGCCCACTGTCT GGCACTCCCTATTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAAT CACCCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTC CTATTCGGCCATCTTGGCTCCTCTATAGATCCATATTTCT |
SNX7 | ENSG00000162627.17 | transcript | ENST00000306121.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ZMAT4_chr8_40525590_40902826 | 40575656 | A A |
AGGAAAAA others(6109): Show AGGAAAAAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAA TTGTTCGTTCTCTTTTTTTTTTTTTTTTTTCTTTCTTTTTTTTTTTTTTA TTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACA TATGTATACATGTGCCATGCTGGTGCGCTGCACCCACCAATGTGTCATCT AGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCCA CCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTCA TTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTGT TCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCCC TACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATGG TGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTTG GGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATACG TGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATAC CCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCTG AGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCCA CCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTGT TGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATAT CTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGCA TTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGTC TGTTCATGTCCTTCACCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTTG TAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAGA TGAGTAGGTTGTGAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACTC TGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATCC CATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACAT GAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCTT CTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATCCATCTT GAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTCT ACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCCT TTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTAG ATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATATC TCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAGT ATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCTT AGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAACTTTAA AGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGGA TGACATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGATA TTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTCTC CTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCCT TCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGCA ATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGTT GGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAGA CTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGATG GGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAATTTGAC TTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATTG CCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGGG CATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTTTTGCCC ATTCAGTATGATATTGGCTCTGGGTTTGTCATAGATAGCTCTTATTATTT TGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGCATGAAG GGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCAT GTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTATTGATT TGCGTATATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATCA TGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTTT ATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAAAATTCT CTGTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGCC TCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATAG TTTCAGAAGGAATGGTACCAGTTCCTCCATGTACCTCTGGTAGAATTCGG CTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGATT ATTGCCACAATTTCAGAGCCTGTTATTGGTCTATTCAGAGATTCAACTTC TTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATTT CTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCTG ATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCATT TTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTTG CTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGAT TCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTGC TCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGCT CTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGAT CTTACCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTACA CACTGCTTTGAATGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTGTTCT CGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTATGTACC CAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGCGGCT TTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCTG AGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGCT TTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTGA AAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCTA TTAGGTCTGCTTGGTGCAGAGCTGAGTTCATTTCCTGGGTATCCTTGTTG ACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGTC TCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGGA CTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATATTTAGG ATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTAATGGCC TTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAGA CTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGATC TTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGATG GGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCCAACTTG CCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGTT AATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTGA TTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTACA TTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTTT AGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAATC TCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATGA AGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTTA AGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTGC CGAGAGATCTGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGAC CTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGTG AATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTTG TGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGAT TGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAACTTGGTT CCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATTTGGTCT TTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATTC TTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTCC ATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTCT GCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCCT TTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCTAAATTT TTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTAG CTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAAT CATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTTT GGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCTG TTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGGT GATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTTAGTTTT CCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATACCCTGCC GTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTTAGGCTG CTCGGGGGTCAGGAGTCAGGGACCCACTTGAGGAGGCAGTCTGCCCGTTC TCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCAAAGCTGT CAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTTGTTTGT CTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGCCTCCTT GAGCTGTGGTGGGCTCCACCGAGTTCGAGCTTCCCGGCTGCTTTGTTTAC CTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCGTTGCCG CCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGATTCCGT GGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTGGTGCGCC GTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTGACCCGA TTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGGAACTCC CTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCTTCGGCT CGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGCACTCCC TAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCGTCTT CTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGCC ATCTTGGCTCCTCCCCC |
intron_variant intron_variant |
MODIFIER | HG02735.hp2 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 228 | 0.0044 | 6116 | c.674 others(6133): Show c.674+5508_674+5509insGGGGGAGGAGCCAAGATGGCCGAATAGG AACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGAT TTCTGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAG ACAGTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAG GGCGAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTT TCCGAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTC CCACCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACG AGACTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCG CTGATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGG CTGGGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGC AGCCGGGAAGCTCGAACTCGGTGGAGCCCACCACAGCTCAAGGAGGCCTG CCTGCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAA GACAGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAA GAGAGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGA CTGCCTCCTCAAGTGGGTCCCTGACTCCTGACCCCCGAGCAGCCTAACTG GGAGGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATT CCAACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAA CCAGAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAA AGACCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAA AACTGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCA GTTCCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAG CTGAGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGA CATTCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAG AATGTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATG GAGCTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAG GAGCCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAA TGAATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGA AATGAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCT ACGTCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGG AAAACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGG CAGGCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTC CTCGAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTG AAATGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACC CTCAAAGGAAAGCCCATCAGACTAACAGCAGATCTCTCGGCAGAAACCCT ACAAGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGA ATTTTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAA GGAGAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCAC CACCAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAA GGAACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCA TCGAGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAA CATCATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATA TAAATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATA AAGAGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTG CAGAGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAG CCAATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAA ACAGACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACAT AATGGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTT ATGCACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGAC CTACAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACAC CCCACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATA CCCAGGAAATGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTAC AGAACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACA CCACACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCA GCAAATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGT GCAATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAAC TACATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACG AAATGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGAC ACCACATACCAGAATCTCTGGGACGCATTCAAAGCAGTGTGTAGAGGGAA ATTTATAGCACTAAATGCCTACAAGAGAAAGCAGGTAAGATCCAAAATTG ACACCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACAT TCAAAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAA GGAAATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCT GGTTTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATA AAGAAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGG GGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACT ACAAACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACA TTCCTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATC TCTGAATAGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTT TACCAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTAC CAGAGGTACATGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATC AATAGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCA TTCTGATACCAAAGCCGGGCAGAGACACAACCAAAACAGAGAATTTTAGA CCAATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGC AAACCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGG GCTTCATCCCTGGGATGCAAGGCTGGTTCAATATACGCAAATCAATAAAT GTAATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTC AATAGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAA AAACTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGA GCTATCTATGACAAACCCAGAGCCAATATCATACTGAATGGGCAAAAACT GGAAGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCAC CGCTCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAG GAGAAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTC CCTGTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAG CCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATAC AAAATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACA AACAGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGA GAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTC AAGGAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAA ATGGAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAA TGGCCATACTGCCCAAGGTAATTTACAGATTCAATGTCATCCCCATCAAG CTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCAT ATGGAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGA ACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCT ACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCA ATGGAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATC TGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTA TTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAA ACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTA AAGATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTA GGCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAAC ACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTA AACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGG CAACCTACAACATGGGAGAAAATTTTCACAACCTACTCATCTGACAAAGG GCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAA CAAACAACCCCATCAAAAAGTGGGTGAAGGACATGAACAGACACTTCTCA AAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATC ACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCA CACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGG AGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAA ACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAG AACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCA AATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTAT TGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAA CAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATAC TATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGAT GAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCA AACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACAT GGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGG GAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACAT TGGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACC TGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAA AAAAGAAAGAAAAAAAAAAAAAAAAAAGAGAACGAACAATTTAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTTTTTCC |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 6/6 | chr8 | TogoVar | ||||||
ADAMTSL3_chr15_83649123_84044842 | 83853171 | T T |
TTAAAAGT others(6110): Show TTAAAAGTTCATTCCAGGGGGGGAGGAGCCAAGATGGCCGAATAGGAACA GCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTCT GCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACAG TGGGCGCAGGCGAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGCG AGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCCG AGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCAC CCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGAC TATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTGA TTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTGG GGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGCC GGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCTG CCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGACA GCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAGA GCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTGC CTCCTCAAGTGGGTCCCTGACTCCTGACCCCCGAGCAGCCTAACTGGGAG GCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCAA CAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCAG AAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGAC CAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAACT GGAAACTCTAAAACACAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTTC CTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTGA GAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACATT CAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAATG TATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAGC TGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAGC CGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGAA TGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAATG AGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACGT CTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAAA CACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAGG CCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTCG AGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAAT GAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTCA AAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACAA GCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATTT TCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGAG AAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCACC AGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGAA CAACCAGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCGA GACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACATC ATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAAA TGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAGA GTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAGA GACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCCAA TGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACAG ACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAATG GTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATGC ACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTAC AAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCCA CTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCCA GGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGAA CTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCAC ACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCAA ATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCAA TCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTACA TGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAAT GAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACCA CATACCAGAATCTCTGGGACGCATTCAAAGCAGTGTGTAGAGGGAAATTT ATAGCACTAAATGCCTACCAGAGAAAGCAGGAAAGATCCAAAATTGACAC CCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCAA AAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGAA ATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGTT TTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAGA AAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGAT ATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACAA ACACCTCTACGCAAATAAACTAGAAAATCTGGAAGAAATGGATACATTCC TCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCTG AATCGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTACC AACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAGA GGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAATA GAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATTCT GATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCAA TATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAAC CGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCTT CATCCCTGGGATGCAAGGCTGGTTCAATATACGCAAATCAATAAATGTAA TCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAATA GATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAAC TCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCTA TCTATGACAAACCCACAGCCAATATCATACTGAATGGACAAAAACTGGAA GCATTCCCTTTGAAAACTGGCACAAGACAGGGATGCCCTCTCTCACCGCT CCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAGA AGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCTG TTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCCA AAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAAA TCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAACA GAGAGCCAAATCATGAGTGAACTCCCATTCACAATTGCTTCAAAGAGAAT AAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAGG AGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATGG AAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGGC CATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTAC CAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATGG AACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACAA AGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACAG TAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATGG AACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGAT CTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTGTTTA ATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACTG GATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGA TTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCA TTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCA AAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACT AAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAAC CTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCTA ATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAA CAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAAG AAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACTG GCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACACC AGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGAG GATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACTA GTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAACT AGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAATG AGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGCG GCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAACAAT GATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTATG CAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAAA TTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAACA CCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACATGGAC ACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAGG GGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAGT GGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACCTGCA CAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAAA AAAAATAACAATAAAATGAGATAAAATCTACTAAAAATCAAGTGAAAAAA AAAAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | HG03017.hp1 HG03017.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0168 | 1 | 274 | 0.0037 | 6117 | c.728 others(6134): Show c.728-5595_728-5594insTAAAAGTTCATTCCAGGGGGGGAGGAGC CAAGATGGCCGAATAGGAACAGCTCCGGTCTACAGCTCCCAGCGTGAGCG ACGCAGAAGACGGTGATTTCTGCATTTCCATCTGAGGTACCGGGTTCATC TCACTAGGGAGTGCCAGACAGTGGGCGCAGGCGAGTGTGTGTGCGCACCG TGCGCGAGCCGAAGCAGGGCGAGGCATTGCCTCACCTGGGAAGCGCAAGG GGTCAGGGAGTTCCCTTTCCGAGTCAAAGAAAGGGGTGACGGACGCACCT GGAAAATCGGGTCACTCCCACCCGAATATTGCGCTTTTCAGACCGGCTTA AGAAACGGCGCACCACGAGACTATATCCCACACCTGGCTCGGAGGGTCCT ACGCCCACGGAATCTCGCTGATTGCTAGCACAGCAGTCTGAGATCAAACT GCAAGGCGGCAACGAGGCTGGGGGAGGGGCGCCCGCCATTGCCCAGGCTT GCTTAGGTAAACAAAGCAGCCGGGAAGCTCGAACTGGGTGGAGCCCACCA CAGCTCAAGGAGGCCTGCCTGCCTCTGTAGGCTCCACCTCTGGGGGCAGG GCACAGACAAACAAAAAGACAGCAGTAACCTCTGCAGACTTAAGTGTCCC TGTCTGACAGCTTTGAAGAGAGCAGTGGTTCTCCCAGCACGCAGCTGGAG ATCTGAGAACGGGCAGACTGCCTCCTCAAGTGGGTCCCTGACTCCTGACC CCCGAGCAGCCTAACTGGGAGGCACCCCCCAGCAGGGGCACACTGACACC TCACACGGCAGGGTATTCCAACAGACCTGCAGCTGAGGGTCCTGTCTGTT AGAAGGAAAACTAACAACCAGAAAGGACATCTACACCGAAAACCCATCTG TACATCACCATCATCAAAGACCAAAAGTAGATAAAACCACAAAGATGGGG AAAAAACAGAACAGAAAAACTGGAAACTCTAAAACACAGAGCGCCTCTCC TCCTCCAAAGGAACGCAGTTCCTCACCAGCAACAGAACAAAGCTGGATGG AGAATGATTTTGACGAGCTGAGAGAAGAAGGCTTCAGACGATCAAATTAC TCTGAGCTACGGGAGGACATTCAAACCAAAGGCAAAGAAGTTGAAAACTT TGAAAAAAATTTAGAAGAATGTATAACTAGAATAACCAATACAGAGAAGT GCTTAAAGGAGCTGATGGAGCTGAAAACCAAGGCTCGAGAACTACGTGAA GAATGCAGAAGCCTCAGGAGCCGATGCGATCAACTGGAAGAAAGGGTATC AGCAATGGAAGATGAAATGAATGAAATGAAGCGAGAAGGGAAGTTTAGAG AAAAAAGAATAAAAAGAAATGAGCAAAGCCTCCAAGAAATATGGGACTAT GTGAAAAGACCAAATCTACGTCTGATTGGTGTACCTGAAAGTGATGTGGA GAATGGAACCAAGTTGGAAAACACTCTGCAGGATATTATCCAGGAGAACT TCCCCAATCTAGCAAGGCAGGCCAACGTTCAGATTCAGGAAATACAGAGA ACGCCACAAAGATACTCCTCGAGAAGAGCAACTCCAAGACACATAATTGT CAGATTCACCAAAGTTGAAATGAAGGAAAAAATGTTAAGGGCAGCCAGAG AGAAAGGTCGGGTTACCCTCAAAGGAAAGCCCATCAGACTAACAGCGGAT CTCTCGGCAGAAACCCTACAAGCCAGAAGAGAGTGGGGGCCAATATTCAA CATTCTTAAAGAAAAGAATTTTCAACCCAGAATTTCATATCCAGCCAAAC TAAGCTTCATAAGTGAAGGAGAAATAAAATACTTTATAGACAAGCAAATG TTGAGAGATTTTGTCACCACCAGGCCTGCCCTAAAAGAGCTCCTGAAGGA AGCGCTAAACATGGAAAGGAACAACCAGTACCAGCCGCTGCAAAATCATG CCAAAATGTAAAGACCATCGAGACTAGGAAGAAACTGCATCAACTAATGA GCAAAATCACCAGCTAACATCATAATGACAGGATCAAATTCACACATAAC AATATTAACTTTAAATATAAATGGACTAAATTCTGCAATTAAAAGACACA GACTGGCAAGTTGGATAAAGAGTCAAGACCCATCAGTGTGCTGTATTCAG GAAACCCATCTCACGTGCAGAGACACACATAGGCTCAAAATAAAAGGATG GAGGAAGATCTACCAAGCCAATGGAAAACAAAAAAAGGCAGGGGTTGCAA TCCTAGTCTCTGATAAAACAGACTTTAAACCAACAAAGATCAAAAGAGAC AAAGAAGGCCATTACATAATGGTAAAGGGATCAATTCAACAAGAGGAGCT AACTATCCTAAATATTTATGCACCCAATACAGGAGCACCCAGATTCATAA AGCAAGTCCTCAGTGACCTACAAAGAGACTTAGACTCCCACACATTAATA ATGGGAGACTTTAACACCCCACTGTCAACATTAGACAGATCAACGAGACA GAAAGTCAACAAGGATACCCAGGAATTGAACTCAGCTCTGCACCAAGCAG ACCTAATAGACATCTACAGAACTCTCCACCCCAAATCAACAGAATATACA TTTTTTTCAGCACCACACCACACCTATTCCAAAATTGACCACATAGTTGG AAGTAAAGCTCTCCTCAGCAAATGTAAAAGAACAGAAATTATAACAAACT ATCTCTCAGACCACAGTGCAATCAAACTAGAACTCAGGATTAAGAATCTC ACTCAAAGCCGCTCAACTACATGGAAACTGAACAACCTGCTCCTGAATGA CTACTGGGTACATAACGAAATGAAGGCAGAAATAAAGATGTTCTTTGAAA CCAACGAGAACAAAGACACCACATACCAGAATCTCTGGGACGCATTCAAA GCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCCTACCAGAGAAAGCA GGAAAGATCCAAAATTGACACCCTAACATCACAATTAAAAGAACTAGAAA AGCAAGAGCAAACACATTCAAAAGCTAGCAGAAGGCAAGAAATAACTAAA ATCAGAGCAGAACTGAAGGAAATAGAGACACAAAAAACCCTTCAAAAAAT CAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCAACAAAATTGATAGAC CGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAGAATCAAATAGACACA ATAAAAAATGATAAAGGGGATATCACCACCGATCCCACAGAAATACAAAC TACCATCAGAGAATACTACAAACACCTCTACGCAAATAAACTAGAAAATC TGGAAGAAATGGATACATTCCTCGACACATACACTCTCCCAAGACTAAAC CAGGAAGAAGTTGAATCTCTGAATCGACCAATAACAGGCTCTGAAATTGT GGCAATAATCAATAGTTTACCAACCAAAAAGAGTCCAGGACCAGATGGAT TCACAGCCGAATTCTACCAGAGGTACAAGGAGGAACTGGTACCATTCCTT CTGAAACTATTCCAATCAATAGAAAAAGAGGGAATCCTCCCTAACTCATT TTATGAGGCCAGCATCATTCTGATACCAAAGCCGGGCAGAGACACAACCA AAAAAGAGAATTTTAGACCAATATCCTTGATGAACATTGATGCAAAAATC CTCAATAAAATACTGGCAAACCGAATCCAGCAGCACATCAAAAAGCTTAT CCACCATGATCAAGTGGGCTTCATCCCTGGGATGCAAGGCTGGTTCAATA TACGCAAATCAATAAATGTAATCCAGCATATAAACAGAGCCAAAGACAAA AACCACATGATTATCTCAATAGATGCAGAAAAAGCCTTTGACAAAATTCA ACAACCCTTCATGCTAAAAACTCTCAATAAATTAGGTATTGATGGGACGT ATTTCAAAATAATAAGAGCTATCTATGACAAACCCACAGCCAATATCATA CTGAATGGACAAAAACTGGAAGCATTCCCTTTGAAAACTGGCACAAGACA GGGATGCCCTCTCTCACCGCTCCTATTCAACATAGTGTTGGAAGTTCTGG CCAGGGCAATCAGGCAGGAGAAGGAAATAAAGGGTATTCAATTAGGAAAA GAGGAAGTCAAATTGTCCCTGTTTGCAGACGACATGATTGTTTATCTAGA AAACCCCATCGTCTCAGCCCAAAATCTCCTTAAGCTGATAAGCAACTTCA GCAAAGTCTCAGGATACAAAATCAATGTACAAAAATCACAAGCATTCTTA TACACCAACAACAGACAAACAGAGAGCCAAATCATGAGTGAACTCCCATT CACAATTGCTTCAAAGAGAATAAAATACCTAGGAATCCAACTTACAAGGG ATGTGAAGGACCTCTTCAAGGAGAACTACAAACCACTGCTCAAGGAAATA AAAGAGGAGACAAACAAATGGAAGAACATTCCATGCTCATGGGTAGGAAG AATCAATATCGTGAAAATGGCCATACTGCCCAAGGTAATTTACAGATTCA ATGCCATCCCCATCAAGCTACCAATGACTTTCTTCACAGAATTGGAAAAA ACTACTTTAAAGTTCATATGGAACCAAAAAAGAGCCCGCATTGCCAAGTC AATCCTAAGCCAAAAGAACAAAGCTGGAGGCATCACACTACCTGACTTCA AACTATACTACAAGGCTACAGTAACCAAAACAGCATGGTACTGGTACCAA AACAGAGATATAGATCAATGGAACAGAACAGAGCCCTCAGAAATAATGCC GCATATCTACAACTATCTGATCTTTGACAAACCTGAGAAAAACAAGCAAT GGGGAAAGGATTCCCTGTTTAATAAATGGTGCTGGGAAAACTGGCTAGCC ATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAAT CAATTCAAGATGGATTAAAGATTTAAACGTTAAACCTAAAACCATAAAAA CCCTAGAAGAAAACCTAGGCATTACCATTCAGGACATAGGCGTGGGCAAG GACTTCATGTCCAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGA CAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTA CCATCAGAGTGAACAGGCAACCTACAACATGGGAGAAAATTTTTGCAACC TACTCATCTGACAAAGGGCTAATATCCAGAATCTACAATGAACTCAAACA AATTTACAAGAAAAAAACAAACAACCCCATCAAAAAGTGGGCGAAGGACA TGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAAAAAACACATG AAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCAC TATGAGATATCATCTCACACCAGTTAGAATGGCAATCATTAAAAAGTCAG GAAACAACAGGTGCTGGAGAGGATGCGGAGAAATAGGAACACTTTTACAC TGTTGGTGGGACTGTAAACTAGTTCAACCATTGTGGAAGTCAGTGTGGCG ATTCCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCAT TACTGGGTATATACCCAAATGAGTATAAATCATGCTGCTATAAAGACACA TGCACACGTATGTTTATTGCGGCACTATTCACAATAGCAAAGACTTGGAA CCAACCCAAATGTCCAACAATGATAGACTGGATTAAGAAAATGTGGCACA TATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATATCC TTTGTAGGGACATGGATGAAATTGGAAACCATCATTCTCAGTAAACTATC GCAAGAACAAAAAACCAAACACCGCATATTCTCACTCATAGGTGGGAATT GAACAATGAGATCACATGGACACAGGAAGGGGAATATCACACTCTGGGGA CTGTGGTGGGGTCGGGGGAGGGGGGAGGGATAGCATTGGGAGATATACCT AATGCTAGATGACACATTAGTGGGTGCAGCGCACCAGCATGGCACATGTA TACATATGTAACTAACCTGCACAATGTGCACATGTACCCTAAAACTTAGA GTATAATAAAAAAAAAAAAAAAAAAATAACAATAAAATGAGATAAAATCT ACTAAAAATCAAGTGAAAAAAAAAAAAAAAAAAAAAAAA |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 7/29 | chr15 | TogoVar | ||||||
NPAS3_chr14_32933879_33809173 | 33670918 | T T |
TCAAAGTA others(6110): Show TCAAAGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTGAGAA TATATTAAGTTTCCTTGTATTTTGAATTCTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGC AGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACT AATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCT CCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGGGTC CATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGT TTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTT CATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCAT AGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATT GTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGC AATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCAT TTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGT TCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAG TTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTC TCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGT GTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAG TGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTT TTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTT GTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAG CCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTT GCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGT TTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGG TGTTTTGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGC CTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCT TTAATCCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAG TTTCAGCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAA ATAGGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATC AGATAGTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCA TTGATCTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTG TAGCCTTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTG TTCTTTTGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCA TATGAACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTA GCTTGATGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCC ATTTTCACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCA TTTGTTTGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCT TGAAGAGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATT CTCTTTGAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGT TTGTCTGTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTT TGTATCCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGG GCTGAGACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAG GGACAATTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCT CCTGCCTGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGC GGTGAGAGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTC CAGTTTTTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAG CTCTTATTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTT TTTAGCATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTAT TGAGATAATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTA CATTTATTGATTTGCGTATATTGAACCAGCCTTGCATCCCAGGGATGAAG CCCACTTGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTT TGCCAGTATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTG GTCTAAAATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGA ATAATGCTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTAT TGATTGGAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCT GGTAGAATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGT AAACTATTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAG AGATTCAACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGA ATGTATCCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTG TAGTATTCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATC CCCTTTATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCT TTATTAGTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAAC CAGCTCCTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTC CTTCAGTTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTG AATGTGTTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTG TCAATTTTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAA TTTCCCTCTACACACTGCTTTGAATGCGTCCCAGAGATTCTGGTATGTGG TGTCTTTGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATT TCGTTATGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGT AGTTGAGCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTG CACTGTGGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTG CTGAGGAGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTG GTGTGGTGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTC TGTAGATGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGG GTATCCTTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGG GGTGTTAAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTA GGTCACTGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCA TAAATATTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCAT TATGTAATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTG TTTTATCAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTG GCTTGGTAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCT GCACGTGAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCT TTATCCAACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTT ATATTTAAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGAT GTTAGCTGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCG ATGGTCTTTACATTTTGGCATGGTTTTGCAGCGGCTGGTACCGGTTGTTC CTTTCCATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGT GGTGACAAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTC CTTCACTTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAA TTCTTTTCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTG TAGGGTTTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGA GGGTAACCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATT TCAACTTTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGA GGAGTATCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCT GCCTTGCTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTT TCCAACTTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACG TAGATTTGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCAT TTCTTTTTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTC ATTTCATCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCT CCTGAGGCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCT CCATCAGCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACAT TCTTCTAAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAAT GTCCTCCCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCA GCTCATCAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAA CTGCGTTCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGT TTTTCTGTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTC TTTGATGATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTG GTTGTTAGTTTTCCTTCTAACAGAGAGGACCCTCAGCTGCAGGTCTGTTG GAATACCCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTC CCAGTTAGGCTGCTCGGGGGTCAGGAGTCAGGGACCCACTTGAGGAGGCA GTCTGCCCGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCT CTTCAAAGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGT CTTTTTGTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAG GCAGGCCTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGC TGCTTTGTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCA GCCTCGTTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCA GCGAGATTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTC TCGTGGTGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTG GGAGTGACCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGG AAAGGGAACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGC CCTGCTTCGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTG TCTGGCACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGA AATCACCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGT TCCTATTCGGCCATCTTC |
intron_variant intron_variant |
MODIFIER | HG03942.hp1 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0010 | 1 | 92 | 0.0109 | 6117 | c.559 others(6134): Show c.559-5280_559-5279insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TCTGAGAATATATTAAGTTTCCTTGTATTTTGAATTCTTTTTTTTTTTTT TTTTTTTTTTTTTTTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCA CATTGTGCAGGTTAGTTACATATGTATACATGTGCCATGCTGGTGCACTG CACCCACTAATGTGTCATCTAGCATTAGGTATATCTCCCAATGCTATCCC TCCCCCCTCCCCCGACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTT CCTGGGTCCATGTGATCTCATTGTTCAATTCCCACCTATGAGTGAGAATA TGCGGTGTTTGGTTTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTT TCCAATTTCATCCATGTCCCTACAAAGGATATGAACTCATCATTTTTTAT GGCTGCATAGTATTCCATGGTGTATATGTGCCACATTTTCTTAATCCAGT CTATCATTGTTGGACATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAAT AGTGCCGCAATAAACATACGTGTGCATGTGTCTTTATAGCAGCATGATTT ATACTCATTTGGGTATATACCCAGTAATGGGATGGCTGGGTCAAATGGTA TTTCTAGTTCTAGATCCCTGAGGAATCGCCACACTGACTTCCACAATGGT TGAACTAGTTTACAGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCC GCATCCTCTCCAGCACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTC TAACTGGTGTGAGATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTG ATGGCCAGTGATGATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAAT GTCTTCTTTTGAGAAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGG GGTTGTTTGTTTTTTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTG GATATTAGCCCTTTGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGT TGTAGGTTGCCTGTTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGC TCTTTAGTTTAATTAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATT GCTTTTGGTGTTTTGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAAT GGTAATGCCTAGGTTTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGT TTAAATCTTTAATCCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAG GGATCCAGTTTCAGCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCA TTTATTAAATAGGGAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGT CAAAGATCAGATAGTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTT CTGTTCCATTGATCTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTT GGTTACTGTAGCCTTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTC CAGCTTTGTTCTTTTGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTT TGGTTCCATATGAACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGT CATTGGTAGCTTGATGGGGATGGCATTGAATCTGTAAATTACCTTGGGCA GTATGGCCATTTTCACGATATTGATTCTTCCTACCCATGAGCATGGAATG TTCTTCCATTTGTTTGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTA GTTCTCCTTGAAGAGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGT ATTTTATTCTCTTTGAAGCAATTGTGAATGGGAGTTCACCCATGATTTGG CTCTCTGTTTGTCTGTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTAC ATTGATTTTGTATCCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGA GATTTTGGGCTGAGACGATGGGGTTTTCTAGATAAACAATCATGTCGTCT GCAAACAGGGACAATTTGACTTCCTCTTTTCCTAATTGAATACCCTTTAT TTCCTTCTCCTGCCTGATTGCCCTGGCCAGAACTTCCAACACTATGTTGA ATAGGAGCGGTGAGAGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGG AATGCTTCCAGTTTTTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTC ATAGATAGCTCTTATTATTTTGAAATACGTCCCATCAATACCTAATTTAT TGAGAGTTTTTAGCATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCT GCATCTATTGAGATAATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATG CTGGATTACATTTATTGATTTGCGTATATTGAACCAGCCTTGCATCCCAG GGATGAAGCCCACTTGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGG ATTCGGTTTGCCAGTATTTTATTGAGGATTTTTGCATCAATGTTCATCAA GGATATTGGTCTAAAATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTG GTATCAGAATAATGCTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCT TTTTCTATTGATTGGAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTT GTACCTCTGGTAGAATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTT TGGTTGGTAAACTATTGATTATTGCCACAATTTCAGAGCCTGTTATTGGT CGATTCAGAGATTCAACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGT GTCGAGGAATGTATCCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGA GGTGTTTGTAGTATTCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTG GTGATATCCCCTTTATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCT TTTTTTCTTTATTAGTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTT CAAAAAACCAGCTCCTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTC TCTATTTCCTTCAGTTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCT AGCTTTTGAATGTGTTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATG TTAGGGTGTCAATTTTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGT GCTATAAATTTCCCTCTACACACTGCTTTGAATGCGTCCCAGAGATTCTG GTATGTGGTGTCTTTGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTG CCTTCATTTCGTTATGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGT TTCCATGTAGTTGAGCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAG TTTGATTGCACTGTGGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTT TACATTTGCTGAGGAGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAA TAGGTGTGGTGTGGTGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTG GAGAGTTCTGTAGATGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCA ATTCCTGGGTATCCTTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTT GACAGTGGGGTGTTAAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTC TCTTTGTAGGTCACTGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTAT TGGGTGCATAAATATTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCC TTTACCATTATGTAATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTT AAAGTCTGTTTTATCAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTT TTCCATTGGCTTGGTAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGT GTGTCTCTGCACGTGAGATGGGTTTCCTGAATACAGCACACTGATGGGTC TTGACTCTTTATCCAACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTA GTCCATTTATATTTAAAGTTAATATTGTTATGTGTGAATTTGATCCTGTC ATTATGATGTTAGCTGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCC TAGTCTCGATGGTCTTTACATTTTGGCATGGTTTTGCAGCGGCTGGTACC GGTTGTTCCTTTCCATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCA GGCCTGGTGGTGACAAAATCTCTCAACATTTGCTTGTCTATAAAGTATTT TATTTCTCCTTCACTTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGG GTTGAAAATTCTTTTCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTT CTGGCTTGTAGGGTTTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTT TCCTTTGAGGGTAACCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTT CCTTCATTTCAACTTTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCT CTTCTCGAGGAGTATCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAAC GTTGGCCTGCCTTGCTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCA GAGTGTTTTCCAACTTGGTTCCATTCTCCACATCACTTTCAGGTACACCA ATCAGACGTAGATTTGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCT TTGCTCATTTCTTTTTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCA TTTCATTCATTTCATCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCG CATCGGCTCCTGAGGCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGT TTTCAGCTCCATCAGCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAG TTATACATTCTTCTAAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTG GTTTGAATGTCCTCCCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTC TTCTCTCAGCTCATCAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTG GTGAGGAACTGCGTTCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAG TTTCCAGTTTTTCTGTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTAC TTTTGGTCTTTGATGATGGTGATGTACAGATGGGTTTTCGGTGTAGATGT CCTTTCTGGTTGTTAGTTTTCCTTCTAACAGAGAGGACCCTCAGCTGCAG GTCTGTTGGAATACCCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGG GGTGCCTCCCAGTTAGGCTGCTCGGGGGTCAGGAGTCAGGGACCCACTTG AGGAGGCAGTCTGCCCGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACC ACTGCTCTCTTCAAAGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTT ACTGCTGTCTTTTTGTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTAC AGAGGCAGGCAGGCCTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGC TTCCCGGCTGCTTTGTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCC CTCCCCCAGCCTCGTTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCT AGCAATCAGCGAGATTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGG ATATAGTCTCGTGGTGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATA TTCGGGTGGGAGTGACCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTT TGACTCGGAAAGGGAACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAA TGCCTCGCCCTGCTTCGGCTCGCGCACGGTGCGCACACACACTGGCCTGC GCCCACTGTCTGGCACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGA AATGCAGAAATCACCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACC GGAGCTGTTCCTATTCGGCCATCTTCCAAAGTATTTTTT |
NPAS3 | ENSG00000151322.20 | transcript | ENST00000356141.9 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SCN5A_chr3_38543062_38654687 | 38584574 | C C |
CAGAATGA others(6110): Show CAGAATGAGTAAATAATGGAGGGGAGGAGCCAAGATGGCCGAATAGGAAC AGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTC TGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACA GTGGGCACAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGC GAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCC GAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCA CCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGA CTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTG ATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTG GGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGC CGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCT GCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGAC AGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAG AGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTG CCTCCTCAAGTGGGTCCCTGACCCCTGACCCCCGAGCAGCCTAACTGGGA GGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCA ACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCA GAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGA CCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAAC TGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTT CCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTG AGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACAT TCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAAT GTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAG CTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAG CCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGA ATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAAT GAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACG TCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAA ACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAG GCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTC GAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAA TGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTC AAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACA AGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATT TTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGA GAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCAC CAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGA ACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCG AGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACAT CATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAA ATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAG AGTCAAGACCCATTAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAG AGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCCA ATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACA GACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAAT GGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATG CACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTA CAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCC ACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCC AGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGA ACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCA CACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCA AATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCA ATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTAC ATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAA TGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACC ACATACCAGAATCTCTGGGACGCACTCAAAGCAGTGTGTAGAGGGAAATT TATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACA CCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCA AAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGA AATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGT TTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAG AAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGA TATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACA AACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTC CTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCT GAATCGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTAC CAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAG AGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAAT AGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATAC TGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCA ATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAA CCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCT TCATCCCTGGGATGCAAGGCTGGTTCAATACACGCAAATCAATAAATGTA ATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAAT AGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAA CTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCT ATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGA AGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCAC TCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAG AAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCT GTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCC AAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAA ATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAAC AGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAA TAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAG GAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATG GAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGG CCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTA CCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATG GAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACA AAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACA GTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATG GAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGA TCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTT AATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACT GGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAG ATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGC ATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACC AAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAAC TAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAA CCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCT AATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAA ACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAA GAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACAC CAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGA GGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAT GAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC GGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGTAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA AAAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATATGA AAAAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | HG03139.hp1 HG03139.hp1 |
a0001 | a0001c0051 | a0001c0051t0002 | a0001c0051t0002g0008 | 1 | 340 | 0.0029 | 6117 | c.278 others(6136): Show c.2787+1116_2787+1117insTTTTTTTTTTTTTTTTTTTCATATTC TTCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGG CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACA GTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGC ACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGA TGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGA TGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGA AGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTT TTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTT GTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGT TCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATT AGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTT GGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGT TTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATC CATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAG CTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGG AATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAG TTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATC TATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCT TGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTT TGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAA CTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGA TGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTC ACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTT TGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGA GGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTT GAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCT GTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATC CTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAG ACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAA TTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCC TGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAG AGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTT TTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTTA TTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGC ATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGAT AATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTA TTGATTTGCGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACT TGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAG TATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAA AATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGATG CTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTG GAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAGA ATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTA TTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAGATTC AACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTAT CCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTAT TCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTT ATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTA GTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTC CTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAG TTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTG TTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATT TTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCC TCTACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCTT TGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTA TGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGA GCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGT GGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGG AGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGG TGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGA TGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATCC TTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTT AAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCAC TGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATA TTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTA ATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTAT CAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGG TAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGT GAGATGGGTTTCCTGAATACAGCACACTAATGGGTCTTGACTCTTTATCC AACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTT AAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGC TGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTC TTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTCC ATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGAC AAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCAC TTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTT TCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGT TTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAA CCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACT TTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTA TCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTG CTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAAC TTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATT TGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTT TTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCA TCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAG GCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCA GCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCT AAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTC CCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGT CAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGT TCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCT GTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGAT GATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTT AGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATAC CCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTT AGGCTGCTCGGGGGTCAGGGGTCAGGGACCCACTTGAGGAGGCAGTCTGC CCGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCAA AGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTT GTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGC CTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTTT GTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCG TTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGA TTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTGG TGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTG ACCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGG AACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCT TCGGCTCGCGCACGGTGCGCACACACACTGGCCTGTGCCCACTGTCTGGC ACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCAC CGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTAT TCGGCCATCTTGGCTCCTCCCCTCCATTATTTACTCATTCT |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C C |
CAGAATGA others(6110): Show CAGAATGAGTAAATAATGGAGGGGAGGAGCCAAGATGGCCGAATAGGAAC AGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTC TGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACA GTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGC GAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCC GAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCA CCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACAGCGCACCACGAGA CTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTG ATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTG GGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGC CGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCT GCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGAC AGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAG AGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTG CCTCCTCAAGTGGGTCCCTGACTCCTGACCCCCGAGCAGCCTAACTGGGA GGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCA ACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCA GAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGA CCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAAC TGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTT CCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTG AGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACAT TCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAAT GTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAG CTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAG CCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGA ATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAAT GAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACG TCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAA ACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAG GCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTC GAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAA TGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTC AAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACA AGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATT TTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGA GAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCAC CAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGA ACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCG AGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACAT CATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAA ATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAG AGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAG AGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCCA ATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACA GACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAAT GGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATG CACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTA CAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCC ACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCC AGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGA ACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCA CACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCA AATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCA ATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTAC ATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAA TGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACC ACATACCAGAATCTCTGGGACGCACTCAAAGCAGTGTGTAGAGGGAAATT TATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACA CCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCA AAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGA AATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGT TTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAG AAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGA TATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACA AACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTC CTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCT GAATCGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTAC CAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAG AGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAAT AGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATAC TGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCA ATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAA CCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCT TCATCCCTGGGATGCAAGGCTGGTTCAATACACGCAAATCAATAAATGTA ATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAAT AGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAA CTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCT ATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGA AGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCAC TCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAG AAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCT GTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCC AAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAA ATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAAC AGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAA TAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAG GAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATG GAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGG CCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTA CCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATG GAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACA AAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACA GTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATG GAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGA TCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTT AATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACT GGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAG ATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGC ATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACC AAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAAC TAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAA CCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCT AATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAA ACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAA GAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACAC CAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGA GGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAT GAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC GGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGTAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA AAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATATGAA AAAAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | HG02015.hp2 HG02015.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0241 | 1 | 340 | 0.0029 | 6117 | c.278 others(6136): Show c.2787+1116_2787+1117insTTTTTTTTTTTTTTTTTTTTCATATT CTTCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGG CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACA GTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGC ACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGA TGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGA TGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGA AGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTT TTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTT GTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGT TCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATT AGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTT GGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGT TTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATC CATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAG CTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGG AATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAG TTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATC TATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCT TGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTT TGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAA CTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGA TGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTC ACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTT TGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGA GGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTT GAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCT GTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATC CTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAG ACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAA TTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCC TGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAG AGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTT TTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTTA TTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGC ATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGAT AATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTA TTGATTTGCGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACT TGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAG TATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAA AATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGATG CTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTG GAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAGA ATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTA TTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAGATTC AACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTAT CCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTAT TCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTT ATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTA GTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTC CTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAG TTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTG TTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATT TTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCC TCTACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCTT TGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTA TGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGA GCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGT GGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGG AGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGG TGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGA TGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATCC TTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTT AAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCAC TGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATA TTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTA ATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTAT CAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGG TAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGT GAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCC AACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTT AAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGC TGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTC TTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTCC ATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGAC AAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCAC TTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTT TCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGT TTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAA CCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACT TTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTA TCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTG CTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAAC TTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATT TGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTT TTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCA TCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAG GCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCA GCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCT AAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTC CCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGT CAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGT TCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCT GTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGAT GATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTT AGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATAC CCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTT AGGCTGCTCGGGGGTCAGGAGTCAGGGACCCACTTGAGGAGGCAGTCTGC CCGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCAA AGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTT GTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGC CTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTTT GTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCG TTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGA TTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTGG TGCGCTGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTG ACCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGG AACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCT TCGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGC ACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCAC CGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTAT TCGGCCATCTTGGCTCCTCCCCTCCATTATTTACTCATTCT |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C C |
CAGAATGA others(6110): Show CAGAATGAGTAAATAATGGAGGGGAGGAGCCAAGATGGCCGAATAGGAAC AGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTC TGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACA GTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGC GAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCC GAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCA CCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGA CTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTG ATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTG GGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGC CGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCT GCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGAC AGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAG AGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTG CCTCCTCAAGTGGGTCCCTGACCCCTGACCCCCGAGCAGCCTAACTGGGA GGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCA ACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCA GAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGA CCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAAC TGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTT CCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTG AGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACAT TCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAAT GTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAG CTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAG CCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGA ATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAAT GAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACG TCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAA ACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAG GCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTC GAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAA TGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTC AAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACA AGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATT TTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGA GAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCAC CAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGA ACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCG AGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACAT CATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAA ATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAG AGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAG AGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCCA ATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACA GACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAAT GGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATG CACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTA CAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCC ACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCC AGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGA ACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCA CACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCA AATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCA ATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTAC ATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAA TGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACC ACATACCAGAATCTCTGGGACGCACTCAAAGCAGTGTGTAGAGGGAAATT TATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACA CCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCA AAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGA AATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGT TTTTTGAAAGGATCAACAAAATTGATAGACCACTAGCAAGACTAATAAAG AAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGA TATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACA AACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTC CTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCT GAATCGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTAC CAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAG AGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAAT AGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATAC TGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCA ATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAA CCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCT TCATCCCTGGGATGCAAGGCTGGTTCAATACACGCAAATCAATAAATGTA ATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAAT AGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAA CTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCT ATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGA AGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCAC TCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAG AAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCT GTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCC AAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAA ATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAAC AGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAA TAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAG GAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATG GAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGG CCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTA CCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATG GAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACA AAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACA GTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATG GAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGA TCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTT AATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACT GGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAG ATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGC ATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACC AAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAAC TAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAA CCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCT AATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAA ACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAA GAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACAC CAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGA GGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAT GAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC GGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGTAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA AAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATATGAA AAAAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | NA19000.hp2 NA19000.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0308 | 1 | 340 | 0.0029 | 6117 | c.278 others(6136): Show c.2787+1116_2787+1117insTTTTTTTTTTTTTTTTTTTTCATATT CTTCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGG CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACA GTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGC ACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGA TGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGA TGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGA AGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTT TTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTT GTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGT TCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATT AGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTT GGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGT TTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATC CATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAG CTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGG AATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAG TTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATC TATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCT TGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTT TGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAA CTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGA TGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTC ACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTT TGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGA GGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTT GAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCT GTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATC CTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAG ACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAA TTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCC TGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAG AGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTT TTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTTA TTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGC ATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGAT AATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTA TTGATTTGCGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACT TGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAG TATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAA AATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGATG CTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTG GAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAGA ATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTA TTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAGATTC AACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTAT CCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTAT TCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTT ATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTA GTCTTGCTAGTGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTC CTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAG TTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTG TTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATT TTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCC TCTACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCTT TGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTA TGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGA GCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGT GGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGG AGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGG TGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGA TGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATCC TTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTT AAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCAC TGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATA TTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTA ATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTAT CAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGG TAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGT GAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCC AACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTT AAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGC TGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTC TTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTCC ATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGAC AAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCAC TTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTT TCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGT TTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAA CCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACT TTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTA TCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTG CTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAAC TTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATT TGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTT TTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCA TCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAG GCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCA GCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCT AAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTC CCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGT CAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGT TCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCT GTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGAT GATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTT AGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATAC CCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTT AGGCTGCTCGGGGGTCAGGGGTCAGGGACCCACTTGAGGAGGCAGTCTGC CCGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCAA AGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTT GTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGC CTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTTT GTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCG TTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGA TTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTGG TGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTG ACCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGG AACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCT TCGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGC ACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCAC CGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTAT TCGGCCATCTTGGCTCCTCCCCTCCATTATTTACTCATTCT |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C C |
CAGAATGA others(6110): Show CAGAATGAGTAAATAATGGAGGGGAGGAGCCAAGATGGCCGAATAGGAAC AGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTC TGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACA GTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGC GAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCC GAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCA CCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGA CTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTG ATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTG GGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGC CGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCT GCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGAC AGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAG AGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTG CCTCCTCAAGTGGGTCCCTGACCCCTGACCCCCGAGCAGCCTAACTGGGA GGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCA ACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCA GAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGA CCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAAC TGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTT CCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTG AGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACAT TCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAAT GTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAG CTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAG CCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGA ATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAAT GAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACG TCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAA ACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAG GCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTC GAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAA TGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTC AAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACA AGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATT TTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGA GAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCAC CAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGA ACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCG AGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACAT CATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAA ATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAG AGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAG AGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCCA ATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACA GACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAAT GGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATG CACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTA CAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCC ACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCC AGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGA ACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCA CACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCA AATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCA ATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTAC ATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAA TGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACC ACATACCAGAATCTCTGGGACGCACTCAAAGCAGTGTGTAGAGGGAAATT TATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACA CCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCA AAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGA AATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGT TTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAG AAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGA TATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACA AACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTC CTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCT GAATAGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTAC CAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAG AGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAAT AGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATAC TGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCA ATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAA CCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCT TCATCCCTGGGATGCAAGGCTGGTTCAATACACGCAAATCAATAAATGTA ATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAAT AGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAA CTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCT ATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGA AGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCAC TCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAG AAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCT GTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCC AAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAA ATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAAC AGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAA TAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAG GAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATG GAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGG CCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTA CCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATG GAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACA AAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACA GTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATG GAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGA TCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTT AATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACT GGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAG ATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGC ATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACC AAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAAC TAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAA CCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCT AATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAA ACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAA GAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACAC CAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGA GGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAT GAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC GGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGTAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA AAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATATGAA AAAAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | HG02132.hp2 HG02132.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0069 | 1 | 340 | 0.0029 | 6117 | c.278 others(6136): Show c.2787+1116_2787+1117insTTTTTTTTTTTTTTTTTTTTCATATT CTTCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGG CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACA GTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGC ACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGA TGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGA TGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGA AGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTT TTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTT GTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGT TCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATT AGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTT GGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGT TTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATC CATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAG CTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGG AATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAG TTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATC TATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCT TGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTT TGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAA CTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGA TGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTC ACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTT TGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGA GGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTT GAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCT GTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATC CTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAG ACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAA TTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCC TGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAG AGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTT TTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTTA TTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGC ATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGAT AATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTA TTGATTTGCGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACT TGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAG TATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAA AATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGATG CTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTG GAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAGA ATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTA TTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCTATTCAGAGATTC AACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTAT CCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTAT TCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTT ATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTA GTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTC CTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAG TTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTG TTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATT TTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCC TCTACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCTT TGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTA TGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGA GCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGT GGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGG AGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGG TGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGA TGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATCC TTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTT AAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCAC TGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATA TTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTA ATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTAT CAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGG TAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGT GAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCC AACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTT AAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGC TGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTC TTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTCC ATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGAC AAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCAC TTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTT TCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGT TTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAA CCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACT TTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTA TCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTG CTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAAC TTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATT TGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTT TTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCA TCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAG GCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCA GCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCT AAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTC CCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGT CAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGT TCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCT GTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGAT GATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTT AGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATAC CCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTT AGGCTGCTCGGGGGTCAGGGGTCAGGGACCCACTTGAGGAGGCAGTCTGC CCGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCAA AGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTT GTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGC CTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTTT GTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCG TTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGA TTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTGG TGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTG ACCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGG AACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCT TCGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGC ACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCAC CGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTAT TCGGCCATCTTGGCTCCTCCCCTCCATTATTTACTCATTCT |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C C |
CAGAATGA others(6110): Show CAGAATGAGTAAATAATGGAGGGGAGGAGCCAAGATGGCCGAATAGGAAC AGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTC TGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACA GTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGC GAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCC GAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCA CCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGA CTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTG ATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTG GGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGC CGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCT GCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGAC AGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAG AGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTG CCTCCTCAAGTGGGTCCCTGACCCCTGACCCCCGAGCAGCCTAACTGGGA GGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCA ACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCA GAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGA CCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAAC TGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTT CCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTG AGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACAT TCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAAT GTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAG CTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAG CCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGA ATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAAT GAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACG TCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAA ACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAG GCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTC GAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAA TGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTC AAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACA AGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATT TTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGA GAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCAC CAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGA ACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCG AGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACAT CATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAA ATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAG AGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAG AGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCCA ATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACA GACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAAT GGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATG CACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTA CAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCC ACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCC AGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGA ACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCA CACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCA AATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCA ATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTAC ATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAA TGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACC ACATACCAGAATCTCTGGGACGCACTCAAAGCAGTGTGTAGAGGGAAATT TATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACA CCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCA AAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGA AATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGT TTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAG AAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGA TATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACA AACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTC CTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCT GAATCGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTAC CAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAG AGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAAT AGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATAC TGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCA ATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAA CCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCT TCATCCCTGGGATGCAAGGCTGGTTCAATACACGCAAATCAATAAATGTA ATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAAT AGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAA CTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCT ATCTATAACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGA AGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCAC TCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAG AAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCT GTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCC AAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAA ATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAAC AGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAA TAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAG GAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATG GAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGG CCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTA CCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATACG GAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACA AAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACA GTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATG GAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGA TCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTT AATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACT GGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAG ATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGC ATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACC AAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAAC TAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAA CCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCT AATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAA ACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAA GAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACAC CAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGA GGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAT GAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC GGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGTAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA AAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATATGAA AAAAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | HG03017.hp2 HG03704.hp1 HG03017.hp2 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0212a0001c0001t0004g0162 | 2 | 340 | 0.0059 | 6117 | c.278 others(6136): Show c.2787+1116_2787+1117insTTTTTTTTTTTTTTTTTTTTCATATT CTTCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGG CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACA GTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGC ACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGA TGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGA TGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGA AGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTT TTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTT GTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGT TCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATT AGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTT GGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGT TTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATC CATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAG CTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGG AATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAG TTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATC TATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCT TGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTT TGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCGTATGAA CTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGA TGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTC ACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTT TGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGA GGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTT GAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCT GTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATC CTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAG ACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAA TTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCC TGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAG AGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTT TTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTTATAGATAGCTCTTA TTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGC ATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGAT AATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTA TTGATTTGCGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACT TGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAG TATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAA AATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGATG CTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTG GAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAGA ATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTA TTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAGATTC AACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTAT CCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTAT TCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTT ATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTA GTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTC CTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAG TTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTG TTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATT TTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCC TCTACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCTT TGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTA TGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGA GCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGT GGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGG AGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGG TGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGA TGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATCC TTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTT AAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCAC TGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATA TTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTA ATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTAT CAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGG TAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGT GAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCC AACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTT AAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGC TGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTC TTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTCC ATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGAC AAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCAC TTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTT TCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGT TTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAA CCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACT TTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTA TCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTG CTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAAC TTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATT TGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTT TTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCA TCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAG GCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCA GCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCT AAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTC CCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGT CAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGT TCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCT GTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGAT GATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTT AGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATAC CCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTT AGGCTGCTCGGGGGTCAGGGGTCAGGGACCCACTTGAGGAGGCAGTCTGC CCGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCAA AGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTT GTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGC CTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTTT GTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCG TTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGA TTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTGG TGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTG ACCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGG AACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCT TCGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGC ACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCAC CGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTAT TCGGCCATCTTGGCTCCTCCCCTCCATTATTTACTCATTCT |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C C |
CAGAATGA others(6110): Show CAGAATGAGTAAATAATGGAGGGGAGGAGCCAAGATGGCCGAATAGGAAC AGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTC TGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACA GTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGC GAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCC GAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCA CCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGA CTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTG ATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTG GGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGC CGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCT GCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGAC AGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAG AGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTG CCTCCTCAAGTGGGTCCCTGACCCCTGACCCCCGAGCAGCCTAACTGGGA GGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCA ACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCA GAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGA CCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAAC TGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTT CCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTG AGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACAT TCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAAT GTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAG CTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAG CCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGA ATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAAT GAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACG TCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAA ACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAG GCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTC GAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAA TGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTC AAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACA AGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATT TTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGA GAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCAC CAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGA ACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCG AGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACAT CATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAA ATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAG AGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAG AGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCCA ATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACA GACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAAT GGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATG CACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTA CAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCC ACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCC AGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGA ACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCA CACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCA AATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCA ATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTAC ATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAA TGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACC ACATACCAGAATCTCTGGGACGCACTCAAAGCAGTGTGTAGAGGGAAATT TATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACA CCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCA AAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGA AATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGT TTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAG AAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGA TATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACA AACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTC CTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCT GAATCGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTAC CAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAG AGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAAT AGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATAC TGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCA ATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAA CCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCT TCATCCCTGGGATGCAAGGCTGGTTCAATACACGCAAATCAATAAATGTA ATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAAT AGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAA CTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCT ATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGA AGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCAC TCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAG AAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCT GTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCC AAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAA ATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAAC AGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAA TAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAG GAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATG GAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGG CCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTA CCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATG GAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACA AAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACA GTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATG GAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGA TCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTT AATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACT GGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAG ATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGC ATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACC AAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAAC TAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAA CCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCT AATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAA ACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAA GAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACAC CAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGA GGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAT GAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC GGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGTAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAAAAAAAAAAAAAAAA AAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATATGAA AAAAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | HG02109.hp1 HG02109.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0176 | 1 | 340 | 0.0029 | 6117 | c.278 others(6136): Show c.2787+1116_2787+1117insTTTTTTTTTTTTTTTTTTTTCATATT CTTCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTTT TTTTTTTTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGG CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACA GTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGC ACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGA TGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGA TGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGA AGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTT TTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTT GTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGT TCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATT AGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTT GGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGT TTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATC CATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAG CTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGG AATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAG TTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATC TATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCT TGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTT TGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAA CTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGA TGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTC ACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTT TGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGA GGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTT GAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCT GTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATC CTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAG ACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAA TTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCC TGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAG AGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTT TTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTTA TTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGC ATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGAT AATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTA TTGATTTGCGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACT TGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAG TATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAA AATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGATG CTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTG GAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAGA ATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTA TTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAGATTC AACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTAT CCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTAT TCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTT ATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTA GTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTC CTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAG TTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTG TTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATT TTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCC TCTACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCTT TGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTA TGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGA GCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGT GGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGG AGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGG TGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGA TGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATCC TTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTT AAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCAC TGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATA TTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTA ATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTAT CAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGG TAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGT GAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCC AACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTT AAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGC TGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTC TTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTCC ATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGAC AAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCAC TTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTT TCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGT TTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAA CCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACT TTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTA TCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTG CTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAAC TTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATT TGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTT TTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCA TCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAG GCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCA GCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCT AAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTC CCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGT CAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGT TCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCT GTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGAT GATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTT AGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATAC CCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTT AGGCTGCTCGGGGGTCAGGGGTCAGGGACCCACTTGAGGAGGCAGTCTGC CCGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCAA AGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTT GTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGC CTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTTT GTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCG TTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGA TTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTGG TGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTG ACCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGG AACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCT TCGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGC ACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCAC CGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTAT TCGGCCATCTTGGCTCCTCCCCTCCATTATTTACTCATTCT |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C C |
CAGAATGA others(6110): Show CAGAATGAGTAAATAATGGAGGGGAGGAGCCAAGATGGCCGAATAGGAAC AGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTC TGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACA GTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGC GAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCC GAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCA CCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGA CTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTG ATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTG GGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGC CGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCT GCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGAC AGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAG AGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTG CCTCCTCAAGTGGGTCCCTGACCCCTGACCCCCGAGCAGCCTAACTGGGA GGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCA ACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCA GAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGA CCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAAC TGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTT CCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTG AGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACAT TCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAAT GTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAG CTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAG CCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGA ATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAAT GAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACG TCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAA ACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAG GCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTC GAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAA TGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTC AAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACA AGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATT TTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGA GAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCAC CAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGA ACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCG AGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACAT CATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAA ATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAG AGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAG AGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCCA ATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACA GACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAAT GGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATG CACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTA CAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCC ACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCC AGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGA ACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCA CACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCA AATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCA ATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTAC ATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAA TGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACC ACATACCAGAATCTCTGGGACGCACTCAAAGCAGTGTGTAGAGGGAAATT TATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACA CCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCA AAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGA AATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGT TTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAG AAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGA TATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACA AACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTC CTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCT GAATCGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTAC CAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAG AGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAAT AGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATAC TGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCA ATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAA CCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCT TCATCCCTGGGATGCAAGGCTGGTTCAATACACGCAAATCAATAAATGTA ATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAAT AGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAA CTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCT ATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGA AGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCAC TCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAG AAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCT GTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCC AAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAA ATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAAC AGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAA TAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAG GAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATG GAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGG CCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTA CCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATG GAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACA AAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACA GTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATG GAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGA TCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTT AATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACT GGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAG ATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGC ATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACC AAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAAC TAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAA CCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCT AATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAA ACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAA GAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACAC CAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGA GGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAT GAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC GGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGTAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA AAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATATGAA AAAAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp1 others(3): Show HG00423.hp1 HG00438.hp1 HG00544.hp1 HG02055.hp1 NA18939.hp1 NA19065.hp2 |
a0001a0003a0021 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0006a0001c0002t0001a0001c0003t0003others(2): Show | a0001c0001t0006g0172a0001c0002t0001g0300a0001c0002t0001g0304others(3): Show | 6 | 340 | 0.0177 | 6117 | c.278 others(6136): Show c.2787+1116_2787+1117insTTTTTTTTTTTTTTTTTTTTCATATT CTTCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGG CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACA GTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGC ACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGA TGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGA TGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGA AGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTT TTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTT GTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGT TCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATT AGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTT GGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGT TTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATC CATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAG CTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGG AATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAG TTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATC TATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCT TGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTT TGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAA CTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGA TGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTC ACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTT TGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGA GGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTT GAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCT GTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATC CTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAG ACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAA TTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCC TGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAG AGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTT TTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTTA TTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGC ATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGAT AATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTA TTGATTTGCGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACT TGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAG TATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAA AATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGATG CTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTG GAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAGA ATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTA TTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAGATTC AACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTAT CCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTAT TCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTT ATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTA GTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTC CTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAG TTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTG TTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATT TTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCC TCTACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCTT TGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTA TGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGA GCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGT GGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGG AGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGG TGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGA TGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATCC TTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTT AAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCAC TGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATA TTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTA ATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTAT CAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGG TAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGT GAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCC AACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTT AAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGC TGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTC TTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTCC ATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGAC AAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCAC TTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTT TCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGT TTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAA CCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACT TTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTA TCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTG CTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAAC TTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATT TGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTT TTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCA TCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAG GCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCA GCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCT AAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTC CCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGT CAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGT TCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCT GTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGAT GATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTT AGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATAC CCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTT AGGCTGCTCGGGGGTCAGGGGTCAGGGACCCACTTGAGGAGGCAGTCTGC CCGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCAA AGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTT GTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGC CTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTTT GTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCG TTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGA TTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTGG TGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTG ACCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGG AACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCT TCGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGC ACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCAC CGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTAT TCGGCCATCTTGGCTCCTCCCCTCCATTATTTACTCATTCT |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C C |
CAGAATGA others(6110): Show CAGAATGAGTAAATAATGGAGGGGAGGAGCCAAGATGGCCGAATAGGAAC AGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTC TGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACA GTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGC GAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCC GAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCA CCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGA CTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTG ATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTG GGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGC CGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCT GCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGAC AGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAG AGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTG CCTCCTCAAGTGGGTCCCTGACCCCTGACCCCCGAGCAGCCTAACTGGGA GGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCA ACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCA GAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGA CCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAAC TGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTT CCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTG AGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACAT TCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAAT GTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAG CTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAG CCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGA ATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAAT GAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACG TCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAA ACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAG GCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTC GAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAA TGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTC AAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACA AGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATT TTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGA GAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCAC CAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGA ACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCG AGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACAT CATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAA ATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAG AGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAG AGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCCA ATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACA GACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAAT GGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATG CACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTA CAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCC ACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCC AGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGA ACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCA CACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCA AATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCA ATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTAC ATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAA TGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACC ACATACCAGAATCTCTGGGACGCACTCAAAGCAGTGTGTAGAGGGAAATT TATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACA CCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCA AAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGA AATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGT TTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAG AAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGA TATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACA AACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTC CTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCT GAATCGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTAC CAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAG AGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAAT AGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATAC TGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCA ATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAA CCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCT TCATCCCTGGGATGCAAGGCTGGTTCAATACACGCAAATCAATAAATGTA ATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAAT AGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAA CTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCT ATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGA AGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCAC TCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAG AAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCT GTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCC AAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAA ATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAAC AGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAA TAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAG GAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATG GAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGG CCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTA CCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATG GAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACA AAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACA GTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATG GAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGA TCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTT AATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACT GGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAG ATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGC ATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACC AAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAAC TAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAA CCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCT AATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAA ACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAA GAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACAC CAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGA GGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAT GAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC GGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGTAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA AAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATATGAAA AAAAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | NA19082.hp2 NA19082.hp2 |
a0001 | a0001c0045 | a0001c0045t0003 | a0001c0045t0003g0165 | 1 | 340 | 0.0029 | 6117 | c.278 others(6136): Show c.2787+1116_2787+1117insTTTTTTTTTTTTTTTTTTTTTCATAT TCTTCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGG CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACA GTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGC ACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGA TGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGA TGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGA AGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTT TTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTT GTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGT TCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATT AGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTT GGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGT TTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATC CATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAG CTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGG AATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAG TTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATC TATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCT TGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTT TGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAA CTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGA TGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTC ACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTT TGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGA GGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTT GAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCT GTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATC CTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAG ACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAA TTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCC TGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAG AGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTT TTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTTA TTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGC ATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGAT AATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTA TTGATTTGCGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACT TGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAG TATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAA AATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGATG CTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTG GAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAGA ATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTA TTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAGATTC AACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTAT CCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTAT TCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTT ATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTA GTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTC CTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAG TTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTG TTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATT TTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCC TCTACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCTT TGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTA TGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGA GCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGT GGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGG AGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGG TGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGA TGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATCC TTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTT AAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCAC TGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATA TTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTA ATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTAT CAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGG TAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGT GAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCC AACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTT AAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGC TGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTC TTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTCC ATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGAC AAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCAC TTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTT TCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGT TTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAA CCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACT TTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTA TCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTG CTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAAC TTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATT TGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTT TTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCA TCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAG GCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCA GCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCT AAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTC CCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGT CAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGT TCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCT GTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGAT GATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTT AGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATAC CCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTT AGGCTGCTCGGGGGTCAGGGGTCAGGGACCCACTTGAGGAGGCAGTCTGC CCGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCAA AGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTT GTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGC CTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTTT GTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCG TTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGA TTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTGG TGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTG ACCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGG AACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCT TCGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGC ACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCAC CGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTAT TCGGCCATCTTGGCTCCTCCCCTCCATTATTTACTCATTCT |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C C |
CAGAATGA others(6110): Show CAGAATGAGTAAATAATGGAGGGGAGGAGCCAAGATGGCCGAATAGGAAC AGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTC TGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACA GTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGC GAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCC GAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCA CCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGA CTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTG ATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTG GGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGC CGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCT GCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGAC AGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAG AGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTG CCTCCTCAAGTGGGTCCCTGACCCCTGACCCCCGAGCAGCCTAACTGGGA GGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCA ACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCA GAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGA CCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAAC TGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTT CCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTG AGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACAT TCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAAT GTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAG CTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAG CCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGA ATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAAT GAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACG TCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAA ACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAG GCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTC GAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAA TGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTC AAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACA AGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATT TTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGA GAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCAC CAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGA ACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCG AGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACAT CATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAA ATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAG AGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAG AGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCCA ATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACA GACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAAT GGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATG CACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTA CAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCC ACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCC AGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGA ACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCA CACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCA AATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCA ATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTAC ATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAA TGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACC ACATACCAGAATCTCTGGGACGCACTCAAAGCAGTGTGTAGAGGGAAATT TATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACA CCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCA AAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGA AATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGT TTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAG AAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGA TATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACA AACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTC CTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCT GAATCGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTAC CAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAG AGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAAT AGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATAC TGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCA ATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAA CCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCT TCATCCCTGGGATGCAAGGCTGGTTCAATACACGCAAATCAATAAATGTA ATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAAT AGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAA CTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCT ATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGA AGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCAC TCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAG AAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCT GTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCC AAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAA ATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAAC AGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAA TAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAG GAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATG GAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGG CCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTA CCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATG GAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACA AAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACA GTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATG GAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGA TCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTT AATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACT GGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAG ATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGC ATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACC AAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAAC TAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAA CCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCT AATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAA ACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAA GAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACAC CAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGA GGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAT GAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC GGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGTAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGTGCACCAGCATGGCACATGTATACGTATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA AAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATATGAA AAAAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | NA19082.hp1 NA19082.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0149 | 1 | 340 | 0.0029 | 6117 | c.278 others(6136): Show c.2787+1116_2787+1117insTTTTTTTTTTTTTTTTTTTTCATATT CTTCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATACGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGG CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACA GTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGC ACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGA TGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGA TGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGA AGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTT TTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTT GTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGT TCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATT AGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTT GGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGT TTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATC CATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAG CTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGG AATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAG TTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATC TATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCT TGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTT TGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAA CTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGA TGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTC ACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTT TGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGA GGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTT GAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCT GTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATC CTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAG ACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAA TTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCC TGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAG AGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTT TTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTTA TTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGC ATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGAT AATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTA TTGATTTGCGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACT TGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAG TATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAA AATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGATG CTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTG GAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAGA ATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTA TTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAGATTC AACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTAT CCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTAT TCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTT ATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTA GTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTC CTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAG TTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTG TTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATT TTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCC TCTACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCTT TGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTA TGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGA GCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGT GGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGG AGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGG TGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGA TGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATCC TTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTT AAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCAC TGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATA TTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTA ATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTAT CAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGG TAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGT GAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCC AACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTT AAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGC TGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTC TTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTCC ATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGAC AAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCAC TTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTT TCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGT TTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAA CCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACT TTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTA TCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTG CTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAAC TTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATT TGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTT TTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCA TCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAG GCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCA GCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCT AAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTC CCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGT CAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGT TCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCT GTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGAT GATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTT AGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATAC CCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTT AGGCTGCTCGGGGGTCAGGGGTCAGGGACCCACTTGAGGAGGCAGTCTGC CCGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCAA AGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTT GTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGC CTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTTT GTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCG TTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGA TTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTGG TGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTG ACCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGG AACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCT TCGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGC ACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCAC CGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTAT TCGGCCATCTTGGCTCCTCCCCTCCATTATTTACTCATTCT |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C C |
CAGAATGA others(6110): Show CAGAATGAGTAAATAATGGAGGGGAGGAGCCAAGATGGCCGAATAGGAAC AGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTC TGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACA GTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGC GAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCC GAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCA CCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGA CTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTG ATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTG GGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGC CGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCT GCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGAC AGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAG AGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTG CCTCCTCAAGTGGGTCCCTGACCCCTGACCCCCGAGCAGCCTAACTGGGA GGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCA ACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCA GAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGA CCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAAC TGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTT CCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTG AGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACAT TCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAAT GTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAG CTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAG CCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGA ATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAAT GAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACG TCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAA ACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAG GCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTC GAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAA TGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTC AAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACA AGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATT TTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGA GAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCAC CAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGA ACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCG AGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACAT CATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAA ATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAG AGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAG AGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCCA ATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACA GACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAAT GGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATG CACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTA CAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCC ACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCC AGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGA ACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCA CACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCA AATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCA ATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTAC ATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAA TGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACC ACATACCAGAATCTCTGGGACGCACTCAAAGCAGTGTGTAGAGGGAAATT TATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACA CCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCA AAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGA AATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGT TTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAG AAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGA TATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACA AACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTC CTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCT GAATCGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTAC CAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAG AGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAAT AGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATAC TGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCA ATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAA CCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCT TCATCCCTGGGATGCAAGGCTGGTTCAATACACGCAAATCAATAAATGTA ATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAAT AGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAA CTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCT ATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGA AGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCAC TCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAG AAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCT GTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCC AAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAA ATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAAC AGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAA TAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAG GAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATG GAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGG CCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTA CCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATG GAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACA AAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACA GTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATG GAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGA TCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTT AATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACT GGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAG ATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGC ATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACC AAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAAC TAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAA CCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCT AATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAA ACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAA GAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACAC CAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGA GGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAT GAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC GGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGTAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA AAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATATGAA AAAAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | NA19080.hp2 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0166 | 1 | 340 | 0.0029 | 6117 | c.278 others(6136): Show c.2787+1116_2787+1117insTTTTTTTTTTTTTTTTTTTTCATATT CTTCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGG CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACA GTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGC ACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGA TGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGA TGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGA AGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTT TTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTT GTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGT TCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATT AGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTT GGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGT TTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATC CATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAG CTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGG AATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAG TTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATC TATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCT TGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTT TGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAA CTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGA TGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTC ACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTT TGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGA GGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTT GAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCT GTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATC CTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAG ACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAA TTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCC TGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAG AGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTT TTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTTA TTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGC ATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGAT AATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTA TTGATTTGCGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACT TGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAG TATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAA AATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGATG CTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTG GAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAGA ATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTA TTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAGATTC AACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTAT CCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTAT TCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTT ATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTA GTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTC CTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAG TTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTG TTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATT TTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCC TCTACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCTT TGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTA TGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGA GCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGT GGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGG AGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGG TGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGA TGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATCC TTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTT AAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCAC TGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATA TTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTA ATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTAT CAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGG TAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGT GAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCC AACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTT AAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGC TGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTC TTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTCC ATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGAC AAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCAC TTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTT TCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGT TTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAA CCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACT TTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTA TCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTG CTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAAC TTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATT TGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTT TTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCA TCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAG GCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCA GCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCT AAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTC CCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGT CAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGT TCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCT GTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGAT GATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTT AGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATAC CCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTT AGGCTGCTCGGGGGTCAGGGGTCAGGGACCCACTTGAGGAGGCAGTCTGC CCGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCAA AGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTT GTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGC CTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTTT GTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCG TTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGA TTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTGG TGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTG ACCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGG AACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCT TCGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGC ACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCAC CGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTAT TCGGCCATCTTGGCTCCTCCCCTCCATTATTTACTCATTCT |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C C |
CAGAATGA others(6110): Show CAGAATGAGTAAATAATGGAGGGGAGGAGCCAAGATGGCCGAATAGGAAC AGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTC TGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACA GTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGC GAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCC GAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCA CCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGA CTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTG ATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTG GGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGC CGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCT GCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGAC AGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAG AGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTG CCTCCTCAAGTGGGTCCCTGACCCCTGACCCCCGAGCAGCCTAACTGGGA GGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCA ACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCA GAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGA CCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAAC TGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTT CCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTG AGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACAT TCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAAT GTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAG CTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAG CCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGA ATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAAT GAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACG TCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAA ACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAG GCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTC GAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAA TGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTC AAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACA AGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATT TTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGA GAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCAC CAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGA ACAACTGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCG AGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACAT CATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAA ATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAG AGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAG AGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCCA ATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACA GACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAAT GGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATG CACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTA CAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCC ACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCC AGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGA ACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCA CACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCA AATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCA ATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTAC ATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAA TGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACC ACATACCAGAATCTCTGGGACGCACTCAAAGCAGTGTGTAGAGGGAAATT TATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACA CCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCA AAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGA AATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGT TTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAG AAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGA TATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACA AACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTC CTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCT GAATCGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTAC CAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAG AGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAAT AGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATAC TGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCA ATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAA CCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCT TCATCCCTGGGATGCAAGGCTGGTTCAATACACGCAAATCAATAAATGTA ATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAAT AGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAA CTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCT ATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGA AGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCAC TCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAG AAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCT GTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCC AAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAA ATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAAC AGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAA TAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAG GAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATG GAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGG CCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTA CCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATG GAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACA AAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACA GTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATG GAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGA TCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTT AATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACT GGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAG ATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGC ATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACC AAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAAC TAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAA CCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCT AATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAA ACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAA GAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACAC CAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGA GGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAT GAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC GGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGTAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA AAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATATGAA AAAAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | HG00140.hp1 HG00140.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0197 | 1 | 340 | 0.0029 | 6117 | c.278 others(6136): Show c.2787+1116_2787+1117insTTTTTTTTTTTTTTTTTTTTCATATT CTTCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGG CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACA GTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGC ACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGA TGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGA TGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGA AGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTT TTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTT GTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGT TCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATT AGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTT GGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGT TTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATC CATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAG CTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGG AATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAG TTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATC TATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCT TGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTT TGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAA CTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGA TGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTC ACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTT TGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGA GGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTT GAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCT GTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATC CTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAG ACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAA TTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCC TGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAG AGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTT TTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTTA TTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGC ATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGAT AATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTA TTGATTTGCGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACT TGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAG TATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAA AATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGATG CTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTG GAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAGA ATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTA TTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAGATTC AACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTAT CCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTAT TCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTT ATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTA GTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTC CTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAG TTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTG TTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATT TTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCC TCTACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCTT TGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTA TGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGA GCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGT GGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGG AGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGG TGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGA TGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATCC TTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTT AAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCAC TGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATA TTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTA ATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTAT CAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGG TAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGT GAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCC AACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTT AAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGC TGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTC TTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCAGTTGTTCCTTTCC ATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGAC AAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCAC TTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTT TCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGT TTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAA CCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACT TTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTA TCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTG CTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAAC TTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATT TGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTT TTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCA TCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAG GCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCA GCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCT AAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTC CCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGT CAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGT TCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCT GTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGAT GATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTT AGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATAC CCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTT AGGCTGCTCGGGGGTCAGGGGTCAGGGACCCACTTGAGGAGGCAGTCTGC CCGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCAA AGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTT GTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGC CTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTTT GTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCG TTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGA TTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTGG TGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTG ACCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGG AACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCT TCGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGC ACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCAC CGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTAT TCGGCCATCTTGGCTCCTCCCCTCCATTATTTACTCATTCT |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C C |
CAGAATGA others(6110): Show CAGAATGAGTAAATAATGGAGGGGAGGAGCCAAGATGGCCGAATAGGAAC AGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTC TGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACA GTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGC GAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCC GAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCA CCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGA CTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTG ATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTG GGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGC CGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCT GCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGAC AGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAG AGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTG CCTCCTCAAGTGGGTCCCTGACTCCTGACCCCCGAGCAGCCTAACTGGGA GGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCA ACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCA GAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGA CCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAAC TGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTT CCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTG AGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACAT TCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAAT GTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAG CTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAG CCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGA ATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAAT GAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACG TCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAA ACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAG GCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTC GAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAA TGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTC AAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACA AGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATT TTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGA GAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCAC CAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGA ACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCG AGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACAT CATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAA ATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAG AGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAG AGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCAA ATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACA GACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAAT GGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATG CACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTA CAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCC ACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCC AGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGA ACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCA CACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCA AATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCA ATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTAC ATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAA TGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACC ACATACCAGAATCTCTGGGACGCACTCAAAGCAGTGTGTAGAGGGAAATT TATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACA CCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCA AAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGA AATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGT TTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAG AAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGA TATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACA AACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTC CTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCT GAATCGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTAC CAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAG AGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAAT AGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATAC TGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCA ATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAA CCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCT TCATCCCTGGGATGCAAGGCTGGTTCAATACACACAAATCAATAAATGTA ATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAAT AGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAA CTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCT ATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGA AGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCAC TCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAG AAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCT GTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCC AAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAA ATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAAC AGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAA TAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAG GAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATG GAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGG CCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTA CCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATG GAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACA AAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACA GTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATG GAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGA TCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTT AATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACT GGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAG ATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGC ATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACC AAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAAC TAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAA CCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCT AATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAA ACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAA GAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACAC CAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGA GGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAT GAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC GGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGTAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA AAAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATATGA AAAAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | HG02135.hp2 NA18952.hp2 HG02135.hp2 NA18952.hp2 |
a0001a0019 | a0001c0001a0019c0052 | a0001c0001t0002a0019c0052t0004 | a0001c0001t0002g0272a0019c0052t0004g0327 | 2 | 340 | 0.0059 | 6117 | c.278 others(6136): Show c.2787+1116_2787+1117insTTTTTTTTTTTTTTTTTTTCATATTC TTCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGG CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACA GTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGC ACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGA TGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGA TGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGA AGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTT TTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTT GTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGT TCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATT AGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTT GGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGT TTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATC CATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAG CTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGG AATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAG TTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATC TATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCT TGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTT TGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAA CTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGA TGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTC ACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTT TGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGA GGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTT GAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCT GTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATC CTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAG ACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAA TTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCC TGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAG AGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTT TTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTTA TTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGC ATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGAT AATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTA TTGATTTGTGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACT TGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAG TATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAA AATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGATG CTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTG GAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAGA ATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTA TTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAGATTC AACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTAT CCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTAT TCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTT ATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTA GTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTC CTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAG TTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTG TTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATT TTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCC TCTACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCTT TGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTA TGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGA GCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGT GGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGG AGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGG TGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGA TGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATCC TTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTT AAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCAC TGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATA TTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTA ATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTAT CAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTTGCTTGG TAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGT GAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCC AACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTT AAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGC TGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTC TTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTCC ATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGAC AAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCAC TTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTT TCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGT TTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAA CCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACT TTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTA TCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTG CTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAAC TTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATT TGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTT TTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCA TCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAG GCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCA GCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCT AAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTC CCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGT CAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGT TCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCT GTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGAT GATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTT AGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATAC CCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTT AGGCTGCTCGGGGGTCAGGAGTCAGGGACCCACTTGAGGAGGCAGTCTGC CCGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCAA AGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTT GTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGC CTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTTT GTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCG TTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGA TTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTGG TGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTG ACCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGG AACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCT TCGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGC ACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCAC CGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTAT TCGGCCATCTTGGCTCCTCCCCTCCATTATTTACTCATTCT |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C C |
CAGAATGA others(6110): Show CAGAATGAGTAAATAATGGAGGGGAGGAGCCAAGATGGCCGAATAGGAAC AGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTC TGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACA GTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGC GAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCC GAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCA CCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGA CTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTG ATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTG GGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGC CGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCT GCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGAC AGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAG AGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTG CCTCCTCAAGTGGGTCCCTGACTCCTGACCCCCGAGCAGCCTAACTGGGA GGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCA ACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCA GAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGA CCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAAC TGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTT CCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTG AGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACAT TCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAAT GTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAG CTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAG CCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGA ATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAAT GAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACG TCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAA ACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAG GCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTC GAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAA TGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTC AAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACA AGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATT TTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGA GAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCAC CAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGA ACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCG AGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACAT CATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAA ATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAG AGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAG AGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCAA ATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACA GACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAAT GGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATG CACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTA CAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCC ACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCC AGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGA ACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCA CACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCA AATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCA ATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTAC ATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAA TGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACC ACATACCAGAATCTCTGGGACGCACTCAAAGCAGTGTGTAGAGGGAAATT TATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACA CCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCA AAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGA AATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGT TTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAG AAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGA TATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACA AACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTC CTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCT GAATCGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTAC CAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAG AGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAAT AGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATAC TGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCA ATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAA CCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCT TCATCCCTGGGATGCAAGGCTGGTTCAATACACACAAATCAATAAATGTA ATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAAT AGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAA CTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCT ATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGA AGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCAC TCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAG AAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCT GTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCC AAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAA ATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAAC AGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAA TAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAG GAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATG GAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGG CCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTA CCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATG GAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACA AAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACA GTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATG GAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGA TCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTT AATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACT GGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAG ATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGC ATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACC AAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAAC TAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAA CCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCT AATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAA ACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAA GAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACAC CAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGA GGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAT GAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC GGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGTAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA AAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATATGAA AAAAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | HG01071.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 340 | 0.0029 | 6117 | c.278 others(6136): Show c.2787+1116_2787+1117insTTTTTTTTTTTTTTTTTTTTCATATT CTTCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGG CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACA GTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGC ACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGA TGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGA TGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGA AGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTT TTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTT GTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGT TCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATT AGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTT GGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGT TTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATC CATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAG CTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGG AATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAG TTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATC TATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCT TGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTT TGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAA CTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGA TGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTC ACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTT TGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGA GGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTT GAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCT GTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATC CTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAG ACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAA TTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCC TGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAG AGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTT TTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTTA TTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGC ATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGAT AATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTA TTGATTTGTGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACT TGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAG TATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAA AATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGATG CTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTG GAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAGA ATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTA TTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAGATTC AACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTAT CCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTAT TCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTT ATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTA GTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTC CTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAG TTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTG TTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATT TTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCC TCTACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCTT TGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTA TGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGA GCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGT GGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGG AGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGG TGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGA TGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATCC TTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTT AAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCAC TGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATA TTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTA ATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTAT CAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTTGCTTGG TAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGT GAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCC AACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTT AAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGC TGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTC TTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTCC ATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGAC AAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCAC TTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTT TCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGT TTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAA CCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACT TTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTA TCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTG CTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAAC TTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATT TGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTT TTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCA TCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAG GCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCA GCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCT AAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTC CCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGT CAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGT TCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCT GTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGAT GATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTT AGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATAC CCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTT AGGCTGCTCGGGGGTCAGGAGTCAGGGACCCACTTGAGGAGGCAGTCTGC CCGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCAA AGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTT GTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGC CTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTTT GTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCG TTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGA TTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTGG TGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTG ACCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGG AACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCT TCGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGC ACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCAC CGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTAT TCGGCCATCTTGGCTCCTCCCCTCCATTATTTACTCATTCT |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C C |
CAGAATGA others(6110): Show CAGAATGAGTAAATAATGGAGGGGAGGAGCCAAGATGGCCGAATAGGAAC AGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTC TGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACA GTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGC GAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCC GAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCA CCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGA CTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTG ATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTG GGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGC CGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCT GCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGAC AGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAG AGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTG CCTCCTCAAGTGGGTCCCTGACTCCTGACCCCCGAGCAGCCTAACTGGGA GGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCA ACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCA GAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGA CCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAAC TGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTT CCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTG AGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACAT TCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAAT GTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAG CTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAG CCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGA ATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAAT GAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACG TCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAA ACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAG GCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTC GAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAA TGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTC AAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACA AGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATT TTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGA GAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCAC CAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGA ACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCG AGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACAT CATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAA ATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAG AGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAG AGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCCA ATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACA GACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAAT GGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATG CACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTA CAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCC ACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCC AGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGA ACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCA CACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCA AATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCA ATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTAC ATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAA TGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACC ACATACCAGAATCTCTGGGACGCACTCAAAGCAGTGTGTAGAGGGAAATT TATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACA CCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCA AAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGA AATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGT TTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAG AAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGA TATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACA AACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTC CTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCT GAATCGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTAC CAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAG AGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAAT AGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATAC TGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCA ATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAA CCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCT TCATCCCTGGGATGCAAGGCTGGTTCAATACACGCAAATCAATAAATGTA ATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAAT AGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAA CTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCT ATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGA AGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCAC TCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAG AAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCT GTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCC AAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAA ATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAAC AGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAA TAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAG GAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATG GAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGG CCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTA CCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATG GAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACA AAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACA GTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATG GAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGA TCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTT AATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACT GGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAG ATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGC ATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACC AAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAAC TAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAA CCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCT AATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAA ACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAA GAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACAC CAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGA GGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAT GAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC GGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGTAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA AAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATATGAA AAAAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | NA20300.hp1 NA20300.hp1 |
a0002 | a0002c0015 | a0002c0015t0014 | a0002c0015t0014g0023 | 1 | 340 | 0.0029 | 6117 | c.278 others(6136): Show c.2787+1116_2787+1117insTTTTTTTTTTTTTTTTTTTTCATATT CTTCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGG CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACA GTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGC ACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGA TGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGA TGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGA AGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTT TTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTT GTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTGT TCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATT AGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTT GGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGT TTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATC CATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAG CTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGG AATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAG TTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATC TATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCT TGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTT TGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAA CTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGA TGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTC ACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTT TGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGA GGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTT GAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCT GTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATC CTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAG ACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAA TTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCC TGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGAG AGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTT TTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTTA TTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGC ATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGAT AATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTA TTGATTTGCGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACT TGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAG TATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAA AATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGATG CTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTG GAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAGA ATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTA TTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAGATTC AACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTAT CCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTAT TCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTT ATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTA GTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTC CTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAG TTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTG TTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATT TTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCC TCTACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCTT TGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTA TGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGA GCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGT GGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGG AGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGG TGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGA TGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATCC TTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTT AAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCAC TGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATA TTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTA ATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTAT CAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGG TAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGT GAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCC AACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTT AAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGC TGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTC TTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTCC ATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGAC AAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCAC TTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTT TCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGT TTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAA CCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACT TTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTA TCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTG CTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAAC TTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATT TGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTT TTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCA TCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAG GCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCA GCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCT AAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTC CCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGT CAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGT TCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCT GTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGAT GATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTT AGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATAC CCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTT AGGCTGCTCGGGGGTCAGGAGTCAGGGACCCACTTGAGGAGGCAGTCTGC CCGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCAA AGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTT GTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGC CTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTTT GTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCG TTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGA TTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTGG TGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTG ACCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGG AACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCT TCGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGC ACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCAC CGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTAT TCGGCCATCTTGGCTCCTCCCCTCCATTATTTACTCATTCT |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | ||||||
ZMAT4_chr8_40525590_40902826 | 40575656 | A A |
AGGAAAAA others(6110): Show AGGAAAAAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAA TTGTTCGTTCTCTTTTTTTTTTTTTTTTTTTCTTTCTTTTTTTTTTTTTT ATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTAC ATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACCAATGTGTCATC TAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCC ACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTC ATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTG TTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCC CTACAAAGGACATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATG GTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTT GGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATAC GTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATA CCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCT GAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCC ACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTG TTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATA TCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGC ATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGT CTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTT GTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAG ATGAGTAGGTTGTGAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACT CTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATC CCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACA TGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCT TCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATCCATCT TGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTC TACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCC TTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTA GATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATAT CTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAG TATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCT TAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAACTTTA AAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGG ATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGAT ATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTCT CCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCC TTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGC AATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGT TGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAG ACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGAT GGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAATTTGA CTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATT GCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGG GCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTTTTGCC CATTCAGTATGATATTGGCTCTGGGTTTGTCATAGATAGCTCTTATTATT TTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGCATGAA GGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCA TGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTATTGAT TTGCGTATATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATC ATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTT TATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAAAATTC TCTGTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGC CTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATA GTTTCAGAAGGAATGGTACCAGTTCCTCCATGTACCTCTGGTAGAATTCG GCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGAT TATTGCCACAATTTCAGAGCCTGTTATTGGTCTATTCAGAGATTCAACTT CTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATT TCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCT GATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCAT TTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTT GCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGA TTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTG CTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGC TCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGA TCTTACCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTAC ACACTGCTTTGAATGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTGTTC TCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTATGTAC CCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGCGGC TTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCT GAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGC TTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTG AAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCT ATTAGGTCTGCTTGGTGCAGAGCTGAGTTCATTTCCTGGGTATCCTTGTT GACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGT CTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGG ACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATATTTAG GATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTAATGGC CTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAG ACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGAT CTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGAT GGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCCAACTT GCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGT TAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTG ATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTAC ATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTT TAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAAT CTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATG AAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTT AAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTG CCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGA CCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGT GAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTT GTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGA TTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAACTTGGT TCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATTTGGTC TTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATT CTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTC CATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTC TGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCC TTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCTAAATT TTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTA GCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAA TCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTT TGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCT GTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGG TGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTTAGTTT TCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATACCCTGC CGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTTAGGCT GCTCGGGGGTCAGGAGTCAGGGACCCACTTGAGGAGGCAGTCTGCCCGTT CTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCAAAGCTG TCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTTGTTTG TCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGCCTCCT TGAGCTGTGGTGGGCTCCACCGAGTTCGAGCTTCCCGGCTGCTTTGTTTA CCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCGTTGCC GCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGATTCCG TGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTGGTGCGC CGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTGACCCG ATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGGAACTC CCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCTTCGGC TCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGCACTCC CTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCGTCT TCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGC CATCTTGGCTCCTCCCCC |
intron_variant intron_variant |
MODIFIER | HG02897.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0220 | 1 | 228 | 0.0044 | 6117 | c.674 others(6134): Show c.674+5508_674+5509insGGGGGAGGAGCCAAGATGGCCGAATAGG AACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGAT TTCTGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAG ACAGTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAG GGCGAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTT TCCGAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTC CCACCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACG AGACTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCG CTGATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGG CTGGGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGC AGCCGGGAAGCTCGAACTCGGTGGAGCCCACCACAGCTCAAGGAGGCCTG CCTGCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAA GACAGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAA GAGAGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGA CTGCCTCCTCAAGTGGGTCCCTGACTCCTGACCCCCGAGCAGCCTAACTG GGAGGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATT CCAACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAA CCAGAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAA AGACCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAA AACTGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCA GTTCCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAG CTGAGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGA CATTCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAG AATGTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATG GAGCTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAG GAGCCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAA TGAATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGA AATGAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCT ACGTCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGG AAAACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGG CAGGCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTC CTCGAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTG AAATGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACC CTCAAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCT ACAAGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGA ATTTTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAA GGAGAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCAC CACCAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAA GGAACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCA TCGAGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAA CATCATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATA TAAATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATA AAGAGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTG CAGAGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAG CCAATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAA ACAGACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACAT AATGGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTT ATGCACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGAC CTACAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACAC CCCACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATA CCCAGGAAATGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTAC AGAACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACA CCACACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCA GCAAATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGT GCAATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAAC TACATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACG AAATGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGAC ACCACATACCAGAATCTCTGGGACGCATTCAAAGCAGTGTGTAGAGGGAA ATTTATAGCACTAAATGCCTACAAGAGAAAGCAGGTAAGATCCAAAATTG ACACCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACAT TCAAAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAA GGAAATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCT GGTTTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATA AAGAAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGG GGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACT ACAAACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACA TTCCTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATC TCTGAATAGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTT TACCAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTAC CAGAGGTACATGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATC AATAGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCA TTCTGATACCAAAGCCGGGCAGAGACACAACCAAAACAGAGAATTTTAGA CCAATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGC AAACCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGG GCTTCATCCCTGGGATGCAAGGCTGGTTCAATATACGCAAATCAATAAAT GTAATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTC AATAGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAA AAACTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGA GCTATCTATGACAAACCCAGAGCCAATATCATACTGAATGGGCAAAAACT GGAAGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCAC CGCTCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAG GAGAAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTC CCTGTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAG CCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATAC AAAATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACA AACAGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGA GAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTC AAGGAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAA ATGGAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAA TGGCCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAG CTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCAT ATGGAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGA ACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCT ACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCA ATGGAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATC TGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTA TTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAA ACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTA AAGATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTA GGCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAAC ACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTA AACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGG CAACCTACAACATGGGAGAAAATTTTCACAACCTACTCATCTGACAAAGG GCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAA CAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCA AAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATC ACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCA CACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGG AGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAA ACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAG AACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCA AATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTAT TGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAA CAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATAC TATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACATGGAT GAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCA AACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACAT GGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGG GAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACAT TGGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACC TGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAA AAAAGAAAGAAAAAAAAAAAAAAAAAAAGAGAACGAACAATTTAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTTTTTCC |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 6/6 | chr8 | TogoVar | ||||||
ZMAT4_chr8_40525590_40902826 | 40575656 | A A |
AGGAAAAA others(6110): Show AGGAAAAAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAA TTGTTCGTTCTCTTTTTTTTTTTTTTTTTTTCTTTCTTTTTTTTTTTTTT ATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTAC ATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACCAATGTGTCATC TAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCC ACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTC ATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTG TTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCC CTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATG GTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTT GGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATAC GTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATA CCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCT GAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCC ACCAACAGTGTAAAAGTGCTCCTATTTCTCCACATCCTCTCCAGCACCTG TTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATA TCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGC ATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGT CTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTT GTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAG ATGAGTAGGTTGTGAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACT CTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATC CCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACA TGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCT TCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATCCATCT TGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTC TACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCC TTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTA GATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATAT CTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAG TATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCT TAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAACTTTA AAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGG ATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGAT ATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTCT CCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCC TTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGC AATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGT TGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAG ACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGAT GGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAATTTGA CTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATT GCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGG GCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTTTTGCC CATTCAGTATGATATTGGCTCTGGGTTTGTCATAGATAGCTCTTATTATT TTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGCATGAA GGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCA TGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTATTGAT TTGCGTATATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATC ATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTT TATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAAAATTC TCTGTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGC CTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATA GTTTCAGAAGGAATGGTACCAGTTCCTCCATGTACCTCTGGTAGAATTCG GCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGAT TATTGCCACAATTTCAGAGCCTGTTATTGGTCTATTCAGAGATTCAACTT CTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATT TCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCT GATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCAT TTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTT GCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGA TTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTG CTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGC TCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGA TCTTACCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTAC ACACTGCTTTGAATGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTGTTC TCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTATGTAC CCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGCGGC TTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCT GAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGC TTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTG AAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCT ATTAGGTCTGCTTGGTGCAGAGCTGAGTTCATTTCCTGGGTATCCTTGTT GACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGT CTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGG ACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATATTTAG GATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTAATGGC CTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAG ACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGAT CTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGAT GGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCCAACTT GCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGT TAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTG ATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTAC ATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTT TAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAAT CTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATG AAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTT AAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTG CCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGA CCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGT GAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTT GTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGA TTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAACTTGGT TCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATTTGGTC TTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATT CTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTC CATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTC TGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCC TTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCTAAATT TTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTA GCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAA TCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTT TGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCT GTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGG TGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTTAGTTT TCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATACCCTGC CGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTTAGGCT GCTCGGGGGTCAGGAGTCAGGGACCCACTTGAGGAGGCAGTCTGCCCGTT CTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCAAAGCTG TCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTTGTTTG TCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGCCTCCT TGAGCTGTGGTGGGCTCCACCGAGTTCGAGCTTCCCGGCTGCTTTGTTTA CCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCGTTGCC GCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGATTCCG TGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTGGTGCGC CGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTGACCCG ATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGGAACTC CCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCTTCGGC TCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGCACTCC CTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCGTCT TCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGC CATCTTGGCTCCTCCCCC |
intron_variant intron_variant |
MODIFIER | HG01192.hp2 HG02622.hp2 HG01192.hp2 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0121a0001c0001t0004g0104 | 2 | 228 | 0.0088 | 6117 | c.674 others(6134): Show c.674+5508_674+5509insGGGGGAGGAGCCAAGATGGCCGAATAGG AACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGAT TTCTGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAG ACAGTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAG GGCGAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTT TCCGAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTC CCACCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACG AGACTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCG CTGATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGG CTGGGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGC AGCCGGGAAGCTCGAACTCGGTGGAGCCCACCACAGCTCAAGGAGGCCTG CCTGCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAA GACAGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAA GAGAGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGA CTGCCTCCTCAAGTGGGTCCCTGACTCCTGACCCCCGAGCAGCCTAACTG GGAGGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATT CCAACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAA CCAGAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAA AGACCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAA AACTGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCA GTTCCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAG CTGAGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGA CATTCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAG AATGTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATG GAGCTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAG GAGCCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAA TGAATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGA AATGAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCT ACGTCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGG AAAACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGG CAGGCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTC CTCGAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTG AAATGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACC CTCAAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCT ACAAGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGA ATTTTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAA GGAGAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCAC CACCAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAA GGAACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCA TCGAGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAA CATCATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATA TAAATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATA AAGAGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTG CAGAGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAG CCAATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAA ACAGACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACAT AATGGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTT ATGCACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGAC CTACAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACAC CCCACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATA CCCAGGAAATGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTAC AGAACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACA CCACACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCA GCAAATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGT GCAATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAAC TACATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACG AAATGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGAC ACCACATACCAGAATCTCTGGGACGCATTCAAAGCAGTGTGTAGAGGGAA ATTTATAGCACTAAATGCCTACAAGAGAAAGCAGGTAAGATCCAAAATTG ACACCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACAT TCAAAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAA GGAAATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCT GGTTTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATA AAGAAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGG GGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACT ACAAACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACA TTCCTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATC TCTGAATAGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTT TACCAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTAC CAGAGGTACATGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATC AATAGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCA TTCTGATACCAAAGCCGGGCAGAGACACAACCAAAACAGAGAATTTTAGA CCAATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGC AAACCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGG GCTTCATCCCTGGGATGCAAGGCTGGTTCAATATACGCAAATCAATAAAT GTAATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTC AATAGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAA AAACTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGA GCTATCTATGACAAACCCAGAGCCAATATCATACTGAATGGGCAAAAACT GGAAGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCAC CGCTCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAG GAGAAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTC CCTGTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAG CCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATAC AAAATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACA AACAGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGA GAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTC AAGGAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAA ATGGAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAA TGGCCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAG CTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCAT ATGGAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGA ACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCT ACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCA ATGGAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATC TGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTA TTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAA ACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTA AAGATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTA GGCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAAC ACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTA AACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGG CAACCTACAACATGGGAGAAAATTTTCACAACCTACTCATCTGACAAAGG GCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAA CAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCA AAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATC ACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCA CACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGG AGAGGATGTGGAGAAATAGGAGCACTTTTACACTGTTGGTGGGACTGTAA ACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAG AACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCA AATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTAT TGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAA CAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATAC TATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGAT GAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCA AACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACAT GGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGG GAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACAT TGGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACC TGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAA AAAAGAAAGAAAAAAAAAAAAAAAAAAAGAGAACGAACAATTTAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTTTTTCC |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 6/6 | chr8 | TogoVar | ||||||
ZMAT4_chr8_40525590_40902826 | 40575656 | A A |
AGGAAAAA others(6110): Show AGGAAAAAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAA TTGTTCGTTCTCTTTTTTTTTTTTTTTTTTTCTTTCTTTTTTTTTTTTTT ATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTAC ATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACCAATGTGTCATC TAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCC ACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTC ATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTG TTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCC CTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATG GTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTT GGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATAC GTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATA CCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCT GAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCC ACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTG TTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATA TCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGC ATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGT CTGTTCATGTCCTTCACCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTT GTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAG ATGAGTAGGTTGTGAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACT CTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATC CCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACA TGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCT TCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATCCATCT TGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTC TACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCC TTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTA GATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATAT CTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAG TATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCT TAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAACTTTA AAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGG ATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGAT ATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTCT CCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCC TTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGC AATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGT TGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAG ACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGAT GGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAATTTGA CTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATT GCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGG GCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTTTTGCC CATTCAGTATGATATTGGCTCTGGGTTTGTCATAGATAGCTCTTATTATT TTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGCATGAA GGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCA TGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTATTGAT TTGCGTATATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATC ATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTT TATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAAAATTC TCTGTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGC CTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATA GTTTCAGAAGGAATGGTACCAGTTCCTCCATGTACCTCTGGTAGAATTCG GCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGAT TATTGCCACAATTTCAGAGCCTGTTATTGGTCTATTCAGAGATTCAACTT CTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATT TCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCT GATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCAT TTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTT GCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGA TTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTG CTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGC TCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGA TCTTACCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTAC ACACTGCTTTGAATGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTGTTC TCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTATGTAC CCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGCGGC TTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCT GAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGC TTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTG AAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCT ATTAGGTCTGCTTGGTGCAGAGCTGAGTTCATTTCCTGGGTATCCTTGTT GACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGT CTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGG ACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATATTTAG GATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTAATGGC CTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAG ACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGAT CTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGAT GGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCCAACTT GCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGT TAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTG ATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTAC ATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTT TAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAAT CTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATG AAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTT AAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTG CCGAGAGATCTGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGA CCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGT GAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTTGAGGAGTATCTTT GTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGA TTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAACTTGGT TCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATTTGGTC TTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATT CTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTC CATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTC TGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCC TTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCTAAATT TTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTA GCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAA TCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTT TGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCT GTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGG TGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTTAGTTT TCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATACCCTGC CGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTTAGGCT GCTCGGGGGTCAGGAGTCAGGGACCCACTTGAGGAGGCAGTCTGCCCGTT CTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCAAAGCTG TCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTTGTTTG TCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGCCTCCT TGAGCTGTGGTGGGCTCCACCGAGTTCGAGCTTCCCGGCTGCTTTGTTTA CCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCGTTGCC GCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGATTCCG TGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTGGTGCGC CGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTGACCCG ATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGGAACTC CCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCTTCGGC TCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGCACTCC CTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCGTCT TCTGCGTTGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGC CATCTTGGCTCCTCCCCC |
intron_variant intron_variant |
MODIFIER | HG02922.hp1 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 228 | 0.0044 | 6117 | c.674 others(6134): Show c.674+5508_674+5509insGGGGGAGGAGCCAAGATGGCCGAATAGG AACAGCTCCGGTCTACAGCTCCCAGCGTGAGCAACGCAGAAGACGGTGAT TTCTGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAG ACAGTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAG GGCGAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTT TCCGAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTC CCACCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACG AGACTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCG CTGATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGG CTGGGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGC AGCCGGGAAGCTCGAACTCGGTGGAGCCCACCACAGCTCAAGGAGGCCTG CCTGCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAA GACAGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAA GAGAGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGA CTGCCTCCTCAAGTGGGTCCCTGACTCCTGACCCCCGAGCAGCCTAACTG GGAGGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATT CCAACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAA CCAGAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAA AGACCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAA AACTGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCA GTTCCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAG CTGAGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGA CATTCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAG AATGTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATG GAGCTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAG GAGCCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAA TGAATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGA AATGAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCT ACGTCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGG AAAACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGG CAGGCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTC CTCAAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTG AAATGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACC CTCAAAGGAAAGCCCATCAGACTAACAGCAGATCTCTCGGCAGAAACCCT ACAAGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGA ATTTTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAA GGAGAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCAC CACCAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAA GGAACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCA TCGAGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAA CATCATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATA TAAATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATA AAGAGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTG CAGAGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAG CCAATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAA ACAGACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACAT AATGGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTT ATGCACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGAC CTACAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACAC CCCACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATA CCCAGGAAATGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTAC AGAACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACA CCACACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCA GCAAATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGT GCAATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAAC TACATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACG AAATGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGAC ACCACATACCAGAATCTCTGGGACGCATTCAAAGCAGTGTGTAGAGGGAA ATTTATAGCACTAAATGCCTACAAGAGAAAGCAGGTAAGATCCAAAATTG ACACCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACAT TCAAAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAA GGAAATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCT GGTTTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATA AAGAAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGG GGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACT ACAAACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACA TTCCTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATC TCTGAATAGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTT TACCAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTAC CAGAGGTACATGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATC AATAGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCA TTCTGATACCAAAGCCGGGCAGAGACACAACCAAAACAGAGAATTTTAGA CCAATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGC AAACCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGG GCTTCATCCCTGGGATGCAAGGCTGGTTCAATATACGCAAATCAATAAAT GTAATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTC AATAGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAA AAACTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGA GCTATCTATGACAAACCCAGAGCCAATATCATACTGAATGGGCAAAAACT GGAAGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCAC CGCTCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAG GAGAAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTC CCTGTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAG CCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATAC AAAATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACA AACAGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGA GAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTC AAGGAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAA ATGGAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAA TGGCCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAG CTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCAT ATGGAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGA ACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCT ACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCA ATGGAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATC TGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTA TTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAA ACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTA AAGATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTA GGCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAAC ACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTA AACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGG CAACCTACAACATGGGAGAAAATTTTCACAACCTACTCATCTGACAAAGG GCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAA CAAACAACCCCATCAAAAAGTGGGTGAAGGACATGAACAGACACTTCTCA AAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATC ACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCA CACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGG AGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAA ACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAG AACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCA AATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTAT TGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAA CAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATAC TATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGAT GAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCA AACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACAT GGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGG GAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACAT TGGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACC TGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAA AAAAGAAAGAAAAAAAAAAAAAAAAAAAGAGAACGAACAATTTAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTTTTTCC |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 6/6 | chr8 | TogoVar | ||||||
ZMAT4_chr8_40525590_40902826 | 40575656 | A A |
AGGAAAAA others(6110): Show AGGAAAAAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAA TTGTTCGTTCTCTTTTTTTTTTTTTTTTTTTCTTTCTTTTTTTTTTTTTT ATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTAC ATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACCAATGTGTCATC TAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCC ACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTC ATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTG TTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCC CTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATG GTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTT GGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATAC GTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATA CCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCT GAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCC ACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTG TTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATA TCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGC ATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGT CTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTT GTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAG ATGAGTAGGTTGTGAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACT CTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATC CCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACA TGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCT TCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATCCATCT TGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTC TACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCC TTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTA GATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATAT CTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAG TATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCT TAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAACTTTA AAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGG ATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGAT ATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTCT CCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCC TTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGC AATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGT TGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAG ACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGAT GGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAATTTGA CTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATT GCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGG GCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTTTTGCC CATTCAGTATGATATTGGCTCTGGGTTTGTCATAGATAGCTCTTATTATT TTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGCATGAA GGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCA TGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTATTGAT TTGCGTATATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATC ATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTT TATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAAAATTC TCTGTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGC CTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATA GTTTCAGAAGGAATGGTACCAGTTCCTCCATGTACCTCTGGTAGAATTCG GCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGAT TATTGCCACAATTTCAGAGCCTGTTATTGGTCTATTCAGAGATTCAACTT CTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATT TCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCT GATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCAT TTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTT GCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGA TTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTG CTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGC TCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGA TCTTACCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTAC ACACTGCTTTGAATGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTGTTC TCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTATGTAC CCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGCGGC TTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCT GAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGC TTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTG AAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCT ATTAGGTCTGCTTGGTGCAGAGCTGAGTTCATTTCCTGGGTATCCTTGTT GACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGT CTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGG ACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATATTTAG GATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTAATGGC CTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAG ACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGAT CTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGAT GGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCCAACTT GCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGT TAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTG ATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTAC ATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTT TAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAAT CTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATG AAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTT AAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTG CCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGA CCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGT GAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTT GTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGA TTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAACTTGGT TCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATTTGGTC TTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATT CTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTC CATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTC TGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCC TTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCTAAATT TTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTA GCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAA TCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTT TGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCT GTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGG TGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTTAGTTT TCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATACCCTGC CGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTTAGGCT GCTCGGGGGTCAGGAGTCAGGGACCCACTTGAGGAGGCAGTCTGCCCGTT CTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCAAAGCTG TCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTTGTTTG TCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGCCTCCT TGAGCTGTGGTGGGCTCCACCGAGTTCGAGCTTCCCGGCTGCTTTGTTTA CCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCGTTGCC GCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGATTCCG TGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTGGTGCGC CGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTGACCCG ATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGGAACTC CCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCTTCGGC TCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGCACTCC CTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCGTCT TCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGC CATCTTGGCTCCTCCCCC |
intron_variant intron_variant |
MODIFIER | HG02109.hp2 HG02615.hp2 NA20129.hp1 HG02109.hp2 HG02615.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009a0001c0001t0002g0091a0001c0001t0002g0168 | 3 | 228 | 0.0132 | 6117 | c.674 others(6134): Show c.674+5508_674+5509insGGGGGAGGAGCCAAGATGGCCGAATAGG AACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGAT TTCTGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAG ACAGTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAG GGCGAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTT TCCGAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTC CCACCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACG AGACTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCG CTGATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGG CTGGGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGC AGCCGGGAAGCTCGAACTCGGTGGAGCCCACCACAGCTCAAGGAGGCCTG CCTGCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAA GACAGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAA GAGAGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGA CTGCCTCCTCAAGTGGGTCCCTGACTCCTGACCCCCGAGCAGCCTAACTG GGAGGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATT CCAACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAA CCAGAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAA AGACCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAA AACTGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCA GTTCCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAG CTGAGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGA CATTCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAG AATGTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATG GAGCTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAG GAGCCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAA TGAATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGA AATGAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCT ACGTCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGG AAAACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGG CAGGCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTC CTCGAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTG AAATGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACC CTCAAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCT ACAAGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGA ATTTTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAA GGAGAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCAC CACCAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAA GGAACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCA TCGAGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAA CATCATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATA TAAATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATA AAGAGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTG CAGAGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAG CCAATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAA ACAGACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACAT AATGGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTT ATGCACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGAC CTACAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACAC CCCACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATA CCCAGGAAATGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTAC AGAACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACA CCACACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCA GCAAATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGT GCAATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAAC TACATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACG AAATGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGAC ACCACATACCAGAATCTCTGGGACGCATTCAAAGCAGTGTGTAGAGGGAA ATTTATAGCACTAAATGCCTACAAGAGAAAGCAGGTAAGATCCAAAATTG ACACCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACAT TCAAAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAA GGAAATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCT GGTTTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATA AAGAAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGG GGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACT ACAAACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACA TTCCTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATC TCTGAATAGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTT TACCAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTAC CAGAGGTACATGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATC AATAGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCA TTCTGATACCAAAGCCGGGCAGAGACACAACCAAAACAGAGAATTTTAGA CCAATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGC AAACCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGG GCTTCATCCCTGGGATGCAAGGCTGGTTCAATATACGCAAATCAATAAAT GTAATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTC AATAGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAA AAACTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGA GCTATCTATGACAAACCCAGAGCCAATATCATACTGAATGGGCAAAAACT GGAAGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCAC CGCTCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAG GAGAAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTC CCTGTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAG CCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATAC AAAATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACA AACAGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGA GAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTC AAGGAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAA ATGGAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAA TGGCCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAG CTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCAT ATGGAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGA ACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCT ACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCA ATGGAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATC TGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTA TTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAA ACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTA AAGATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTA GGCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAAC ACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTA AACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGG CAACCTACAACATGGGAGAAAATTTTCACAACCTACTCATCTGACAAAGG GCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAA CAAACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCA AAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATC ACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCA CACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGG AGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAA ACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAG AACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCA AATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTAT TGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAA CAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATAC TATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGAT GAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCA AACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACAT GGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGG GAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACAT TGGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACC TGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAA AAAAGAAAGAAAAAAAAAAAAAAAAAAAGAGAACGAACAATTTAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTTTTTCC |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 6/6 | chr8 | TogoVar | ||||||
ZMAT4_chr8_40525590_40902826 | 40575656 | A A |
AGGAAAAA others(6110): Show AGGAAAAAGTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTAA ATTGTTCGTTCTCTTTTTTTTTTTTTTTTTTCTTTCTTTTTTTTTTTTTT ATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTAC ATATGTATACATGTGCCATGCTGGTGCGCTGCACCCACCAATGTGTCATC TAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCGACCCC ACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTGATCTC ATTGTTCAATTCCCACCTATGAGTGAGAATATGCGGTGTTTGGTTTTTTG TTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCATGTCC CTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATTCCATG GTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGACATTT GGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAACATAC GTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGTATATA CCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGATCCCT GAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACAGTCCC ACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAGCACCTG TTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGATGATA TCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGATGAGC ATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAGAAGTGT CTGTTCATGTCCTTCACCCACTTTTTGATGGGGTTGTTTGTTTTTTTCTT GTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTTTGTCAG ATGAGTAGGTTGTGAAAATTTTCTCCCATGTTGTAGGTTGCCTGTTCACT CTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAATTAGATC CCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTTTGGACA TGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGGTTTTCT TCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAATCCATCT TGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCAGCTTTC TACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGGGAATCC TTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATAGTTGTA GATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGATCTATAT CTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCCTTGTAG TATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTTTTGGCT TAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGAACTTTA AAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTGATGGGG ATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTTCACGAT ATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGTTTGTCT CCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAGAGGTCC TTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTTTGAAGC AATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTCTGTTGT TGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTATCCTGAG ACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGAGACGAT GGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACAATTTGA CTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGCCTGATT GCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGCGGTGAGAGAGG GCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTTTTTGCC CATTCAGTATGATATTGGCTCTGGGTTTGTCATAGATAGCTCTTATTATT TTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAGCATGAA GGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGATAATCA TGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTTATTGAT TTGCGTATATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCACTTGATC ATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCAGTATTT TATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTAAAATTC TCTGTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGAATGATGCTGGC CTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATTGGAATA GTTTCAGAAGGAATGGTACCAGTTCCTCCATGTACCTCTGGTAGAATTCG GCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACTATTGAT TATTGCCACAATTTCAGAGCCTGTTATTGGTCTATTCAGAGATTCAACTT CTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTATCCATT TCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTATTCTCT GATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTTTATCAT TTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATTAGTCTT GCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCTCCTGGA TTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCAGTTCTG CTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGTGTTTGC TCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAATTTTGGA TCTTACCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCCCTCTAC ACACTGCTTTGAATGCGTCCCAGAGATTCTGGTATGTGGTGTCTTTGTTC TCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTTATGTAC CCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTGAGCGGC TTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTGTGGTCT GAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAGGAGAGC TTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTGGTGCTG AAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAGATGTCT ATTAGGTCTGCTTGGTGCAGAGCTGAGTTCATTTCCTGGGTATCCTTGTT GACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGTTAAAGT CTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCACTGAGG ACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAATATTTAG GATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGTAATGGC CTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTATCAGAG ACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTGGTAGAT CTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACGTGAGAT GGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATCCAACTT GCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATTTAAAGT TAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAGCTGGTG ATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGTCTTTAC ATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTCCATGTT TAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGACAAAAT CTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCACTTATG AAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTTTTCTTT AAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGGTTTCTG CCGAGAGATCTGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTAACCCGA CCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAACTTTGGT GAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGTATCTTT GTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTTGCTAGA TTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAACTTGGT TCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGATTTGGTC TTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTTTTTATT CTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTCATCTTC CATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGAGGCTTC TGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATCAGCTCC TTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTCTAAATT TTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCTCCCGTA GCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCGTCAAAA TCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCGTTCCTT TGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTCTGTTCT GTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGATGATGG TGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGTTAGTTT TCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATACCCTGC CGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGTTAGGCT GCTCGGGGGTCAGGAGTCAGGGACCCACTTGAGGAGGCAGTCTGCCCGTT CTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCAAAGCTG TCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTTTGTTTG TCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGGCCTCCT TGAGCTGTGGTGGGCTCCACCGAGTTCGAGCTTCCCGGCTGCTTTGTTTA CCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTCGTTGCC GCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAGATTCCG TGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTGGTGCGC CGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGTGACCCG ATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGGGAACTC CCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGCTTCGGC TCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGGCACTCC CTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCACCGTCT TCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTATTCGGC CATCTTGGCTCCTCCCCC |
intron_variant intron_variant |
MODIFIER | HG02040.hp2 HG02040.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 228 | 0.0044 | 6117 | c.674 others(6134): Show c.674+5508_674+5509insGGGGGAGGAGCCAAGATGGCCGAATAGG AACAGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGAT TTCTGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAG ACAGTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAG GGCGAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTT TCCGAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTC CCACCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACG AGACTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCG CTGATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGG CTGGGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGC AGCCGGGAAGCTCGAACTCGGTGGAGCCCACCACAGCTCAAGGAGGCCTG CCTGCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAA GACAGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAA GAGAGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGA CTGCCTCCTCAAGTGGGTCCCTGACTCCTGACCCCCGAGCAGCCTAACTG GGAGGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATT CCAACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAA CCAGAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAA AGACCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAA AACTGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCA GTTCCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAG CTGAGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGA CATTCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAG AATGTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATG GAGCTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAG GAGCCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAA TGAATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGA AATGAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCT ACGTCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGG AAAACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGG CAGGCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTC CTCGAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTG AAATGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACC CTCAAAGGAAAGCCCATCAGACTAACAGCAGATCTCTCGGCAGAAACCCT ACAAGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGA ATTTTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAA GGAGAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCAC CACCAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAA GGAACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCA TCGAGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAA CATCATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATA TAAATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATA AAGAGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTG CAGAGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAG CCAATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAA ACAGACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACAT AATGGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTT ATGCACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGAC CTACAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACAC CCCACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATA CCCAGGAAATGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTAC AGAACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACA CCACACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCA GCAAATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGT GCAATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAAC TACATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACG AAATGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGAC ACCACATACCAGAATCTCTGGGACGCATTCAAAGCAGTGTGTAGAGGGAA ATTTATAGCACTAAATGCCTACAAGAGAAAGCAGGTAAGATCCAAAATTG ACACCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACAT TCAAAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAA GGAAATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCT GGTTTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATA AAGAAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGG GGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACT ACAAACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACA TTCCTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATC TCTGAATAGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTT TACCAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTAC CAGAGGTACATGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATC AATAGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCA TTCTGATACCAAAGCCGGGCAGAGACACAACCAAAACAGAGAATTTTAGA CCAATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGC AAACCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGG GCTTCATCCCTGGGATGCAAGGCTGGTTCAATATACGCAAATCAATAAAT GTAATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTC AATAGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAA AAACTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGA GCTATCTATGACAAACCCAGAGCCAATATCATACTGAATGGGCAAAAACT GGAAGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCAC CGCTCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAG GAGAAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTC CCTGTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAG CCCAAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATAC AAAATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACA AACAGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGA GAATAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTC AAGGAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAA ATGGAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAA TGGCCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAG CTACCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCAT ATGGAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGA ACAAAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCT ACAGTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCA ATGGAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATC TGATCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTA TTTAATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAA ACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTA AAGATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTA GGCATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAAC ACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTA AACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGG CAACCTACAACATGGGAGAAAATTTTCACAACCTACTCATCTGACAAAGG GCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAA CAAACAACCCCATCAAAAAGTGGGTGAAGGACATGAACAGACACTTCTCA AAAGAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATC ACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCA CACCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGG AGAGGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAA ACTAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAG AACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCA AATGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTAT TGCGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGTCCAA CAATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATAC TATGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGAT GAAATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCA AACACCGCATATTCTCACTCATAGGTGGGAATTGAACAATGAGATCACAT GGACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGG GAGGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACAT TGGTGGGTGCAGCGCACCAGCATGGCACATGTATACATATGTAACTAACC TGCACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAA AAAAGAAAGAAAAAAAAAAAAAAAAAAGAGAACGAACAATTTAAAAAAAA AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACTTTTTCC |
ZMAT4 | ENSG00000165061.15 | transcript | ENST00000297737.11 | protein_coding | 6/6 | chr8 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585658 | T T |
TTGAGGTA others(6111): Show TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAG TAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGC CCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTT TCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCA GCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCAT GAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGT AGCCCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCT CTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCATGAGGT AGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTC CAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGC TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGC CCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTT TCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCA GCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCAT GAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGT AGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCC CTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCTCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTC TTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTC CAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGC TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCTCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGC CCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTT TCCAGCTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCCCTTTCCA GCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTT GAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGT AGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCC CTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTC CAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGC TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCATGA GGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCT TGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGC TCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTT TCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCA GCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTT GAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTCGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGT CGCCCTTTCCAGCTTGAGGTAGTCGCCCTTTCCAGCTTGAGGTAGTAGCC CTTTCCAGCTTGAGGTAGTCGCCCTTTCCAGCTTGAGGTAGTCGCCCTTT CCAGCTTGAGGTAGTCGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTG AGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTC CAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGC TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCATGA GGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCA TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGC TCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTT TCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCA GCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTT GAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGT AGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCC CTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAG CTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTG AGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTC CAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGC TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCATGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCTCTTTCC AGCTTGAGGTAGTAGCTGTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCA |
intron_variant intron_variant |
MODIFIER | NA18983.hp2 NA18983.hp2 |
a0001 | a0001c0033 | a0001c0033t0014 | a0001c0033t0014g0105 | 1 | 279 | 0.0036 | 6118 | c.215 others(6135): Show c.215-1589_215-1588insCCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTC TTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTC CAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGC ATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAG GTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGC CCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTT TCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCA GCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTT GAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGT AGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCC CTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTC CAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGC TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAG TAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGC CCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTT TCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCA GCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCAT GAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGT AGCCCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCT CTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCTTGAGGTAGTAGCTCTTTCCAGCATGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCATGAGGT AGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTC CAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGC TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGC CCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTT TCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCA GCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTT GAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTAGCCCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGT AGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCC CTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTG AGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCTC TTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTC CAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGC ATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGA GGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTCGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTCGCCCTTTCCAGCTTGAGGTAGTCGCCCTTTCCAGCTTGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTCGCCCTTTCCAGCTTGAGGTAG TCGCCCTTTCCAGCTTGAGGTAGTCGCCCTTTCCAGCTTGAGGTAGTAGC CCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTT TCCAGCTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCCCTTTCCA GCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTT GAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGG TAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGT AGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCC CTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCATGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTG AGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGT AGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTA GCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTC CAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGC TTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCATGA GGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTA GTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAG CCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCT TTCCAGCTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCCCTTTCC AGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCT TGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCATGAG GTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAG TAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGC TCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCCCTT TCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCCCTTTCCA GCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTT GAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGG TAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGT AGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGTAGTAGCC CTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTT CCAGCATGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAG CTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGCTCTTTCCAGCTTG AGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCTCTTTCCAGCTTGAGGT AGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTA GCTCTTTCCAGCTTGAGGTAGTAGCTGTTTCCAGCTTGAGGTAGTAGCCC TTTCCAGCTTGAGGTAGTAGCCCTTTCCAGCTTGAGGTAGTAGCCCTTTC CAGCTTGAGGTAGTAGCCCTTTCCAGCATGAGGTAGTAGC |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SCN5A_chr3_38543062_38654687 | 38584574 | C C |
CAGAATGA others(6111): Show CAGAATGAGTAAATAATGGAGGGGAGGAGCCAAGATGGCCGAATAGGAAC AGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTC TGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACA GTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGC GAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCC GAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCA CCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGA CTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTG ATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTG GGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGC CGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCT GCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGAC AGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAG AGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTG CCTCCTCAAGTGGGTCCCTGACCCCTGACCCCCGAGCAGCCTAACTGGGA GGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCA ACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCA GAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGA CCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAAC TGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTT CCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTG AGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACAT TCAAACCAAAGGCAAAGAAGTTGAAAACGTTGAAAAAAATTTAGAAGAAT GTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAG CTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAG CCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGA ATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAAT GAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACG TCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAA ACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAG GCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTC GAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAA TGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTC AAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACA AGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATT TTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGA GAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCAC CAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGA ACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCG AGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACAT CATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAA ATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAG AGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAG AGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCCA ATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACA GACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAAT GGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATG CACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTA CAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCC ACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCC AGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGA ACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCA CACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCA AATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCA ATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTAC ATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAA TGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACC ACATACCAGAATCTCTGGGACGCACTCAAAGCAGTGTGTAGAGGGAAATT TATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACA CCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCA AAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGA AATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGT TTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAG AAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGA TATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACA AACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTC CTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCT GAATCGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTAC CAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAG AGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAAT AGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATAC TGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCA ATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAA CCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCT TCATCCCTGGGATGCAAGGCTGGTTCAATACACGCAAATCAATAAATGTA ATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAAT AGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAA CTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCT ATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGA AGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCAC TCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAG AAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCT GTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCC AAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAA ATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAAC AGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAA TAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAG GAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATG GAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGG CCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTA CCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATG GAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACA AAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACA GTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATG GAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGA TCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTT AATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACT GGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAG ATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGC ATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACC AAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAAC TAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAA CCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCT AATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAA ACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAA GAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACAC CAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGA GGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAT GAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC GGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGTAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA AAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATATGAA AAAAAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | NA18993.hp2 NA18993.hp2 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0079 | 1 | 340 | 0.0029 | 6118 | c.278 others(6137): Show c.2787+1116_2787+1117insTTTTTTTTTTTTTTTTTTTTTCATAT TCTTCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGG GCATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAA ACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGG TATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAG ATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTAC AGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAG CACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAG ATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATG ATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAG AAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTT TTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTT TGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTG TTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAAT TAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTT TGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGG TTTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAAT CCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCA GCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGG GAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATA GTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGAT CTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCC TTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTT TTGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGA ACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTG ATGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTT CACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGT TTGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAG AGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTT TGAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTC TGTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTAT CCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGA GACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACA ATTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGC CTGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGA GAGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTT TTTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTT ATTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAG CATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGA TAATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTT ATTGATTTGCGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCAC TTGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCA GTATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTA AAATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGAT GCTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATT GGAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAG AATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACT ATTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAGATT CAACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTA TCCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTA TTCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTT TATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATT AGTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCT CCTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCA GTTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGT GTTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAAT TTTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCC CTCTACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCT TTGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTT ATGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTG AGCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTG TGGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAG GAGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTG GTGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAG ATGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATC CTTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGT TAAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCA CTGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAAT ATTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGT AATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTA TCAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTG GTAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACG TGAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATC CAACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATT TAAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAG CTGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGT CTTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTC CATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGA CAAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCA CTTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTT TTCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGG TTTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTA ACCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAAC TTTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGT ATCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTT GCTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAA CTTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGAT TTGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTT TTTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTC ATCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGA GGCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATC AGCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTC TAAATTTTTTTCAACGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCT CCCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCG TCAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCG TTCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTC TGTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGA TGATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGT TAGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATA CCCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGT TAGGCTGCTCGGGGGTCAGGGGTCAGGGACCCACTTGAGGAGGCAGTCTG CCCGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCA AAGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTT TGTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGG CCTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTT TGTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTC GTTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAG ATTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTG GTGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGT GACCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGG GAACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGC TTCGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGG CACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCA CCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTA TTCGGCCATCTTGGCTCCTCCCCTCCATTATTTACTCATTCT |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C C |
CAGAATGA others(6111): Show CAGAATGAGTAAATAATGGAGGGGAGGAGCCAAGATGGCCGAATAGGAAC AGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTC TGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACA GTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGC GAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCC GAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCA CCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGA CTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTG ATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTG GGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGC CGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCT GCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGAC AGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAG AGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTG CCTCCTCAAGTGGGTCCCTGACCCCTGACCCCCGAGCAGCCTAACTGGGA GGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCA ACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCA GAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGA CCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAAC TGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTT CCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTG AGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACAT TCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAAT GTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAG CTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAG CCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGA ATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAAT GAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACG TCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAA ACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAG GCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTC GAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAA TGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTC AAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACA AGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATT TTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGA GAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCAC CAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGA ACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCG AGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACAT CATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAA ATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAG AGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAG AGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCCA ATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACA GACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAAT GGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATG CACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTA CAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCC ACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCC AGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGA ACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCA CACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCA AATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCA ATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTAC ATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAA TGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACC ACATACCAGAATCTCTGGGACGCACTCAAAGCAGTGTGTAGAGGGAAATT TATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACA CCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCA AAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGA AATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGT TTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAG AAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGA TATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACA AACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTC CTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCT GAATAGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTAC CAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAG AGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAAT AGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATAC TGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCA ATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAA CCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCT TCATCCCTGGGATGCAAGGCTGGTTCAATACACGCAAATCAATAAATGTA ATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAAT AGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAA CTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCT ATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGA AGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCAC TCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAG AAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCT GTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCC AAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAA ATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAAC AGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAA TAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAG GAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATG GAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGG CCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTA CCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATG GAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACA AAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACA GTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATG GAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGA TCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTT AATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACT GGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAG ATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGC ATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACC AAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAAC TAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAA CCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCT AATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAA ACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAA GAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACAC CAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGA GGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAT GAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC GGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGTAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA AAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATATGAA AAAAAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | HG00597.hp1 HG00673.hp2 HG02129.hp1 others(3): Show HG00597.hp1 HG00673.hp2 HG02129.hp1 HG03834.hp2 NA18747.hp1 NA18948.hp1 |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0003a0001c0001t0004a0001c0003t0003others(2): Show | a0001c0001t0003g0052a0001c0001t0003g0245a0001c0001t0004g0317others(3): Show | 6 | 340 | 0.0177 | 6118 | c.278 others(6137): Show c.2787+1116_2787+1117insTTTTTTTTTTTTTTTTTTTTTCATAT TCTTCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGG GCATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAA ACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGG TATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAG ATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTAC AGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAG CACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAG ATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATG ATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAG AAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTT TTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTT TGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTG TTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAAT TAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTT TGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGG TTTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAAT CCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCA GCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGG GAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATA GTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGAT CTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCC TTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTT TTGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGA ACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTG ATGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTT CACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGT TTGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAG AGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTT TGAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTC TGTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTAT CCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGA GACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACA ATTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGC CTGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGA GAGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTT TTTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTT ATTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAG CATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGA TAATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTT ATTGATTTGCGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCAC TTGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCA GTATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTA AAATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGAT GCTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATT GGAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAG AATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACT ATTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCTATTCAGAGATT CAACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTA TCCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTA TTCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTT TATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATT AGTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCT CCTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCA GTTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGT GTTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAAT TTTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCC CTCTACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCT TTGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTT ATGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTG AGCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTG TGGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAG GAGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTG GTGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAG ATGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATC CTTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGT TAAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCA CTGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAAT ATTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGT AATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTA TCAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTG GTAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACG TGAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATC CAACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATT TAAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAG CTGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGT CTTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTC CATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGA CAAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCA CTTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTT TTCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGG TTTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTA ACCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAAC TTTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGT ATCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTT GCTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAA CTTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGAT TTGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTT TTTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTC ATCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGA GGCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATC AGCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTC TAAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCT CCCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCG TCAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCG TTCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTC TGTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGA TGATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGT TAGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATA CCCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGT TAGGCTGCTCGGGGGTCAGGGGTCAGGGACCCACTTGAGGAGGCAGTCTG CCCGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCA AAGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTT TGTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGG CCTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTT TGTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTC GTTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAG ATTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTG GTGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGT GACCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGG GAACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGC TTCGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGG CACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCA CCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTA TTCGGCCATCTTGGCTCCTCCCCTCCATTATTTACTCATTCT |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C C |
CAGAATGA others(6111): Show CAGAATGAGTAAATAATGGAGGGGAGGAGCCAAGATGGCCGAATAGGAAC AGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTC TGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACA GTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGC GAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCC GAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCA CCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGA CTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTG ATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTG GGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGC CGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCT GCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGAC AGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAG AGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTG CCTCCTCAAGTGGGTCCCTGACCCCTGACCCCCGAGCAGCCTAACTGGGA GGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCA ACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCA GAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGA CCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAAC TGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTT CCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTG AGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACAT TCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAAT GTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAG CTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAG CCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGA ATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAAT GAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACG TCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAA ACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAG GCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTC GAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAA TGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTC AAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACA AGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATT TTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGA GAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCAC CAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGA ACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCG AGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACAT CATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAA ATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAG AGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAG AGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCCA ATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACA GACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAAT GGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATG CACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTA CAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCC ACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCC AGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGA ACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCA CACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCA AATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCA ATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTAC ATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAA TGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACC ACATACCAGAATCTCTGGGACGCACTCAAAGCAGTGTGTAGAGGGAAATT TATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACA CCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCA AAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGA AATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGT TTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAG AAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGA TATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACA AACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTC CTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCT GAATCGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTAC CAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAG AGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAAT AGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATAC TGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCA ATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAA CCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCT TCATCCCTGGGATGCAAGGCTGGTTCAATACACGCAAATCAATAAATGTA ATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAAT AGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAA CTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCT ATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGA AGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCAC TCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAG AAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCT GTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCC AAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAA ATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAAC AGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAA TAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAG GAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATG GAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGG CCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTA CCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATG GAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACA AAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACA GTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATG GAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGA TCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTT AATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACT GGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAG ATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGC ATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACC AAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAAC TAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAA CCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCT AATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAA ACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAA GAAGACATTTATGCAGCCAAAAAAACACATGAAGAAATGCTCATCATCAC TGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACA CCAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAG AGGATGTGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAAC TAGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAA CTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAA TGAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTG CGGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACA ATGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTA TGCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGA AATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAA CACCGCATATTCTCACTCATAGGTGGTAATTGAACAATGAGATCACATGG ACACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGA GGGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTA GTGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTG CACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAA AAAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATATGA AAAAAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | NA18972.hp2 NA18972.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0254 | 1 | 340 | 0.0029 | 6118 | c.278 others(6137): Show c.2787+1116_2787+1117insTTTTTTTTTTTTTTTTTTTTCATATT CTTCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTTT TTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTA GTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGTG TCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCCG ACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGTG ATCTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGTT TTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCCA TGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTATT CCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGGG CATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAAA CATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGGT ATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAGA TCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTACA GTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCACATCCTCTCCAGC ACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAGA TGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATGA TGAGCATTTCTTCATGTGTTTTTTTGGCTGCATAAATGTCTTCTTTTGAG AAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTT TTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTT TGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTG TTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAAT TAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTT TGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGG TTTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAAT CCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCA GCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGG GAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATA GTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGAT CTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCC TTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTT TTGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGA ACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTG ATGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTT CACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGT TTGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAG AGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTT TGAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTC TGTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTAT CCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGA GACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACA ATTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGC CTGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGA GAGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTT TTTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTT ATTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAG CATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGA TAATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTT ATTGATTTGCGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCAC TTGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCA GTATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTA AAATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGAT GCTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATT GGAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAG AATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACT ATTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAGATT CAACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTA TCCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTA TTCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTT TATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATT AGTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCT CCTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCA GTTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGT GTTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAAT TTTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCC CTCTACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCT TTGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTT ATGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTG AGCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTG TGGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAG GAGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTG GTGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAG ATGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATC CTTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGT TAAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCA CTGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAAT ATTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGT AATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTA TCAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTG GTAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACG TGAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATC CAACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATT TAAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAG CTGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGT CTTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTC CATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGA CAAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCA CTTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTT TTCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGG TTTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTA ACCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAAC TTTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGT ATCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTT GCTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAA CTTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGAT TTGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTT TTTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTC ATCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGA GGCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATC AGCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTC TAAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCT CCCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCG TCAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCG TTCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTC TGTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGA TGATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGT TAGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATA CCCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGT TAGGCTGCTCGGGGGTCAGGGGTCAGGGACCCACTTGAGGAGGCAGTCTG CCCGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCA AAGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTT TGTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGG CCTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTT TGTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTC GTTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAG ATTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTG GTGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGT GACCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGG GAACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGC TTCGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGG CACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCA CCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTA TTCGGCCATCTTGGCTCCTCCCCTCCATTATTTACTCATTCT |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C C |
CAGAATGA others(6111): Show CAGAATGAGTAAATAATGGAGGGGAGGAGCCAAGATGGCCGAATAGGAAC AGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTC TGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACA GTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGC GAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCC GAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCA CCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGA CTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTG ATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTG GGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGC CGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCT GCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGAC AGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAG AGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTG CCTCCTCAAGTGGGTCCCTGACCCCTGACCCCCGAGCAGCCTAACTGGGA GGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCA ACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCA GAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGA CCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAAC TGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTT CCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTG AGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACAT TCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAAT GTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAG CTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAG CCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGA ATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAAT GAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACG TCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAA ACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAG GCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTC GAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAA TGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTC AAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACA AGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATT TTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGA GAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCAC CAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGA ACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCG AGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACAT CATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAA ATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAG AGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAG AGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCCA ATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACA GACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAAT GGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATG CACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTA CAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCC ACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCC AGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGA ACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCA CACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCA AATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCA ATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTAC ATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAA TGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACC ACATACCAGAATCTCTGGGACGCACTCAAAGCAGTGTGTAGAGGGAAATT TATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACA CCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCA AAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGA AATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGT TTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAG AAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGA TATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACA AACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTC CTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCT GAATCGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTAC CAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAG AGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAAT AGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATAC TGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCA ATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAA CCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCT TCATCCCTGGGATGCAAGGCTGGTTCAATACACGCAAATCAATAAATGTA ATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAAT AGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAA CTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCT ATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGA AGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCAC TCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAG AAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCT GTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCC AAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAA ATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAAC AGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAA TAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAG GAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATG GAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGG CCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTA CCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATG GAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACA AAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACA GTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATG GAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGA TCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTT AATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACT GGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAG ATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGC ATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACC AAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAAC TAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAA CCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCT AATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAA ACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAA GAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACAC CAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGA GGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAT GAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC GGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGTAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA AAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATATGAA AAAAAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | HG00558.hp1 HG00738.hp1 HG01109.hp2 others(19): Show HG00558.hp1 HG00738.hp1 HG01109.hp2 HG01433.hp2 HG02257.hp2 HG02572.hp2 HG04115.hp2 NA18942.hp2 NA18945.hp1 NA18950.hp2 NA18955.hp1 NA18959.hp2 NA18963.hp1 NA18967.hp1 NA18970.hp2 NA18982.hp2 NA18999.hp2 NA19002.hp1 NA19002.hp2 NA19004.hp1 NA19012.hp1 NA20129.hp2 |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0003g0185a0001c0001t0003g0226a0001c0001t0004g0333others(18): Show a0001c0001t0003g0185a0001c0001t0003g0226a0001c0001t0004g0333a0001c0001t0005g0003a0001c0001t0027g0193a0001c0003t0002g0067a0001c0003t0003g0070a0001c0003t0003g0078a0001c0003t0003g0086a0001c0003t0003g0099a0001c0003t0003g0101a0001c0003t0003g0103a0001c0003t0003g0201a0001c0003t0004g0111a0001c0003t0004g0112a0001c0003t0009g0006a0001c0003t0026g0087a0001c0004t0001g0081a0001c0004t0001g0082a0001c0004t0001g0115a0001c0049t0003g0246 |
22 | 340 | 0.0647 | 6118 | c.278 others(6137): Show c.2787+1116_2787+1117insTTTTTTTTTTTTTTTTTTTTTCATAT TCTTCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGG GCATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAA ACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGG TATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAG ATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTAC AGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAG CACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAG ATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATG ATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAG AAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTT TTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTT TGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTG TTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAAT TAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTT TGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGG TTTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAAT CCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCA GCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGG GAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATA GTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGAT CTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCC TTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTT TTGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGA ACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTG ATGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTT CACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGT TTGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAG AGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTT TGAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTC TGTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTAT CCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGA GACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACA ATTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGC CTGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGA GAGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTT TTTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTT ATTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAG CATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGA TAATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTT ATTGATTTGCGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCAC TTGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCA GTATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTA AAATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGAT GCTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATT GGAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAG AATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACT ATTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAGATT CAACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTA TCCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTA TTCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTT TATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATT AGTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCT CCTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCA GTTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGT GTTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAAT TTTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCC CTCTACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCT TTGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTT ATGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTG AGCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTG TGGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAG GAGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTG GTGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAG ATGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATC CTTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGT TAAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCA CTGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAAT ATTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGT AATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTA TCAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTG GTAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACG TGAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATC CAACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATT TAAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAG CTGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGT CTTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTC CATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGA CAAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCA CTTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTT TTCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGG TTTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTA ACCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAAC TTTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGT ATCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTT GCTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAA CTTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGAT TTGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTT TTTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTC ATCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGA GGCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATC AGCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTC TAAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCT CCCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCG TCAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCG TTCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTC TGTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGA TGATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGT TAGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATA CCCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGT TAGGCTGCTCGGGGGTCAGGGGTCAGGGACCCACTTGAGGAGGCAGTCTG CCCGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCA AAGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTT TGTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGG CCTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTT TGTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTC GTTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAG ATTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTG GTGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGT GACCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGG GAACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGC TTCGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGG CACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCA CCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTA TTCGGCCATCTTGGCTCCTCCCCTCCATTATTTACTCATTCT |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C C |
CAGAATGA others(6111): Show CAGAATGAGTAAATAATGGAGGGGAGGAGCCAAGATGGCCGAATAGGAAC AGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTC TGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACA GTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGC GAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCC GAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCA CCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGA CTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTG ATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTG GGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGC CGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCT GCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGAC AGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAG AGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTG CCTCCTCAAGTGGGTCCCTGACCCCTGACCCCCGAGCAGCCTAACTGGGA GGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCA ACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCA GAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGA CCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAAC TGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTT CCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTG AGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACAT TCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAAT GTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAG CTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAG CCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGA ATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAAT GAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACG TCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAA ACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAG GCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTC GAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAA TGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTC AAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACA AGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATT TTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGA GAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCAC CAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGA ACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCG AGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACAT CATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAA ATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAG AGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAG AGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCCA ATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACA GACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAAT GGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATG CACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTA CAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCC ACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCC AGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGA ACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCA CACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCA AATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCA ATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTAC ATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAA TGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACC ACATACCAGAATCTCTGGGACGCACTCAAAGCAGTGTGTAGAGGGAAATT TATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACA CCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCA AAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGA AATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGT TTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAG AAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGA TATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACA AACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTC CTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCT GAATCGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTAC CAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAG AGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAAT AGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATAC TGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCA ATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAA CCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCT TCATCCCTGGGATGCAAGGCTGGTTCAATACACGCAAATCAATAAATGTA ATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAAT AGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAA CTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCT ATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGA AGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCAC TCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAG AAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCT GTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCC AAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAA ATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAAC AGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAA TAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAG GAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATG GAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGG CCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTA CCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATG GAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACA AAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACA GTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATG GAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGA TCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTT AATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACT GGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAG ATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGC ATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACC AAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAAC TAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAA CCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCT AATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAA ACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAA GAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACAC CAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGA GGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAT GAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC GGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGTAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTATCCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA AAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATATGAA AAAAAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | NA18986.hp2 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0223 | 1 | 340 | 0.0029 | 6118 | c.278 others(6137): Show c.2787+1116_2787+1117insTTTTTTTTTTTTTTTTTTTTTCATAT TCTTCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGAT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGG GCATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAA ACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGG TATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAG ATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTAC AGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAG CACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAG ATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATG ATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAG AAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTT TTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTT TGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTG TTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAAT TAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTT TGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGG TTTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAAT CCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCA GCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGG GAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATA GTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGAT CTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCC TTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTT TTGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGA ACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTG ATGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTT CACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGT TTGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAG AGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTT TGAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTC TGTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTAT CCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGA GACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACA ATTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGC CTGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGA GAGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTT TTTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTT ATTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAG CATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGA TAATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTT ATTGATTTGCGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCAC TTGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCA GTATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTA AAATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGAT GCTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATT GGAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAG AATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACT ATTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAGATT CAACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTA TCCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTA TTCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTT TATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATT AGTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCT CCTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCA GTTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGT GTTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAAT TTTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCC CTCTACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCT TTGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTT ATGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTG AGCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTG TGGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAG GAGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTG GTGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAG ATGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATC CTTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGT TAAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCA CTGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAAT ATTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGT AATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTA TCAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTG GTAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACG TGAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATC CAACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATT TAAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAG CTGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGT CTTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTC CATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGA CAAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCA CTTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTT TTCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGG TTTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTA ACCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAAC TTTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGT ATCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTT GCTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAA CTTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGAT TTGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTT TTTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTC ATCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGA GGCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATC AGCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTC TAAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCT CCCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCG TCAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCG TTCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTC TGTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGA TGATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGT TAGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATA CCCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGT TAGGCTGCTCGGGGGTCAGGGGTCAGGGACCCACTTGAGGAGGCAGTCTG CCCGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCA AAGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTT TGTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGG CCTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTT TGTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTC GTTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAG ATTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTG GTGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGT GACCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGG GAACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGC TTCGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGG CACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCA CCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTA TTCGGCCATCTTGGCTCCTCCCCTCCATTATTTACTCATTCT |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C C |
CAGAATGA others(6111): Show CAGAATGAGTAAATAATGGAGGGGAGGAGCCAAGATGGCCGAATAGGAAC AGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTC TGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACA GTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGC GAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCC GAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCA CCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGA CTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTG ATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTG GGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGC CGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCT GCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGAC AGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAG AGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTG CCTCCTCAAGTGGGTCCCTGACCCCTGACCCCCGAGCAGCCTAACTGGGA GGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCA ACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCA GAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGA CCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAAC TGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTT CCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTG AGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACAT TCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAAT GTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAG CTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAG CCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGA ATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAAT GAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACG TCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAA ACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAG GCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTC GAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAA TGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTC AAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACA AGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATT TTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGA GAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCAC CAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGA ACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCG AGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACAT CATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAA ATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAG AGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAG AGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCCA ATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACA GACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAAT GGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATG CACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTA CAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCC ACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCC AGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGA ACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCA CACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCA AATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCA ATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTAC ATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAA TGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACC ACATACCAGAATCTCTGGGACGCACTCAAAGCAGTGTGTAGAGGGAAATT TATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACA CCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCA AAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGA AATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGT TTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAG AAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGA TATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACA AACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTC CTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCT GAATCGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTAC CAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAG AGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAAT AGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATAC TGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCA ATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAA CCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCT TCATCCCTGGGATGCAAGGCTGGTTCAATACACGCAAATCAATAAATGTA ATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAAT AGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAA CTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCT ATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGA AGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCAC TCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAG AAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCT GTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCC AAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAA ATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAAC AGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAA TAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAG GAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATG GAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGG CCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTA CCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATG GAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACA AAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACA GTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATG GAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGA TCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTT AATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACT GGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAG ATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGC ATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACC AAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAAC TAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAA CCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCT AATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAA ACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAA GAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACAC CAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGA GGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAT GAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC GGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGTAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGTGCACCAGCATGGCACATGTATACGTATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA AAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATATGAA AAAAAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | NA18956.hp2 NA19007.hp1 NA19057.hp2 others(1): Show NA18956.hp2 NA19007.hp1 NA19057.hp2 NA19066.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0150a0001c0004t0001g0080a0001c0004t0001g0089others(1): Show | 4 | 340 | 0.0118 | 6118 | c.278 others(6137): Show c.2787+1116_2787+1117insTTTTTTTTTTTTTTTTTTTTTCATAT TCTTCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATACGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGG GCATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAA ACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGG TATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAG ATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTAC AGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAG CACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAG ATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATG ATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAG AAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTT TTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTT TGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTG TTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAAT TAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTT TGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGG TTTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAAT CCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCA GCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGG GAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATA GTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGAT CTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCC TTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTT TTGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGA ACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTG ATGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTT CACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGT TTGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAG AGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTT TGAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTC TGTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTAT CCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGA GACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACA ATTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGC CTGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGA GAGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTT TTTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTT ATTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAG CATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGA TAATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTT ATTGATTTGCGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCAC TTGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCA GTATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTA AAATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGAT GCTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATT GGAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAG AATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACT ATTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAGATT CAACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTA TCCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTA TTCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTT TATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATT AGTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCT CCTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCA GTTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGT GTTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAAT TTTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCC CTCTACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCT TTGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTT ATGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTG AGCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTG TGGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAG GAGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTG GTGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAG ATGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATC CTTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGT TAAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCA CTGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAAT ATTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGT AATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTA TCAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTG GTAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACG TGAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATC CAACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATT TAAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAG CTGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGT CTTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTC CATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGA CAAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCA CTTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTT TTCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGG TTTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTA ACCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAAC TTTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGT ATCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTT GCTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAA CTTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGAT TTGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTT TTTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTC ATCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGA GGCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATC AGCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTC TAAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCT CCCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCG TCAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCG TTCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTC TGTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGA TGATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGT TAGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATA CCCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGT TAGGCTGCTCGGGGGTCAGGGGTCAGGGACCCACTTGAGGAGGCAGTCTG CCCGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCA AAGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTT TGTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGG CCTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTT TGTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTC GTTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAG ATTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTG GTGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGT GACCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGG GAACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGC TTCGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGG CACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCA CCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTA TTCGGCCATCTTGGCTCCTCCCCTCCATTATTTACTCATTCT |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C C |
CAGAATGA others(6111): Show CAGAATGAGTAAATAATGGAGGGGAGGAGCCAAGATGGCCGAATAGGAAC AGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTC TGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACA GTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGC GAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCC GAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCA CCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGA CTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTG ATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTG GGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGC CGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCT GCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGAC AGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAG AGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTG CCTCCTCAAGTGGGTCCCTGACCCCTGACCCCCGAGCAGCCTAACTGGGA GGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCA ACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCA GAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGA CCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAAC TGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTT CCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTG AGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACAT TCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAAT GTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAG CTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAG CCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGA ATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAAT GAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACG TCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAA ACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAG GCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTC GAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAA TGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTC AAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACA AGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATT TTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGA GAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCAC CAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGA ACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCG AGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACAT CATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAA ATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAG AGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAG AGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCCA ATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACA GACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAAT GGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATG CACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTA CAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCC ACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCC AGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGA ACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCA CACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCA AATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCA ATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTAC ATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAA TGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACC ACATACCAGAATCTCTGGGACGCACTCAAAGCAGTGTGTAGAGGGAAATT TATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACA CCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCA AAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGA AATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGT TTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAG AAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGA TATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACA AACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTC CTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCT GAATCGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTAC CAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAG AGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAAT AGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATAC TGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCA ATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAA CCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCT TCATCCCTGGGATGCAAGGCTGGTTCAATACACGCAAATCAATAAATGTA ATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAAT AGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAA CTCTCAATAAATTAGGTGTTGATGGGACGTATTTCAAAATAATAAGAGCT ATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGA AGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCAC TCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAG AAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCT GTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCC AAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAA ATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAAC AGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAA TAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAG GAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATG GAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGG CCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTA CCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATG GAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACA AAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACA GTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATG GAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGA TCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTT AATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACT GGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAG ATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGC ATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACC AAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAAC TAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAA CCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCT AATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAA ACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAA GAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACAC CAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGA GGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAT GAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC GGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGTAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA AAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATATGAA AAAAAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | NA18951.hp2 NA18951.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0095 | 1 | 340 | 0.0029 | 6118 | c.278 others(6137): Show c.2787+1116_2787+1117insTTTTTTTTTTTTTTTTTTTTTCATAT TCTTCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGG GCATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAA ACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGG TATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAG ATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTAC AGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAG CACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAG ATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATG ATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAG AAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTT TTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTT TGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTG TTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAAT TAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTT TGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGG TTTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAAT CCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCA GCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGG GAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATA GTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGAT CTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCC TTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTT TTGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGA ACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTG ATGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTT CACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGT TTGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAG AGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTT TGAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTC TGTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTAT CCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGA GACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACA ATTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGC CTGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGA GAGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTT TTTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTT ATTATTTTGAAATACGTCCCATCAACACCTAATTTATTGAGAGTTTTTAG CATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGA TAATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTT ATTGATTTGCGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCAC TTGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCA GTATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTA AAATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGAT GCTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATT GGAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAG AATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACT ATTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAGATT CAACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTA TCCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTA TTCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTT TATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATT AGTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCT CCTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCA GTTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGT GTTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAAT TTTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCC CTCTACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCT TTGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTT ATGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTG AGCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTG TGGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAG GAGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTG GTGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAG ATGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATC CTTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGT TAAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCA CTGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAAT ATTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGT AATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTA TCAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTG GTAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACG TGAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATC CAACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATT TAAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAG CTGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGT CTTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTC CATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGA CAAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCA CTTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTT TTCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGG TTTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTA ACCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAAC TTTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGT ATCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTT GCTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAA CTTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGAT TTGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTT TTTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTC ATCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGA GGCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATC AGCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTC TAAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCT CCCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCG TCAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCG TTCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTC TGTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGA TGATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGT TAGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATA CCCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGT TAGGCTGCTCGGGGGTCAGGGGTCAGGGACCCACTTGAGGAGGCAGTCTG CCCGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCA AAGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTT TGTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGG CCTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTT TGTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTC GTTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAG ATTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTG GTGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGT GACCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGG GAACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGC TTCGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGG CACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCA CCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTA TTCGGCCATCTTGGCTCCTCCCCTCCATTATTTACTCATTCT |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C C |
CAGAATGA others(6111): Show CAGAATGAGTAAATAATGGAGGGGAGGAGCCAAGATGGCCGAATAGGAAC AGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTC TGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACA GTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGC GAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCC GAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCA CCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGA CTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTG ATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTG GGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGC CGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCT GCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGAC AGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAG AGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTG CCTCCTCAAGTGGGTCCCTGACCCCTGACCCCCGAGCAGCCTAACTGGGA GGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCA ACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCA GAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGA CCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAAC TGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTT CCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTG AGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACAT TCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAAT GTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAG CTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAG CCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGA ATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAAT GAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACG TCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAA ACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAG GCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTC GAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAA TGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTC AAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACA AGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATT TTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGA GAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCAC CAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGA ACAACTGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCG AGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACAT CATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAA ATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAG AGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAG AGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCCA ATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACA GACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAAT GGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATG CACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTA CAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCC ACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCC AGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGA ACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCA CACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCA AATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCA ATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTAC ATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAA TGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACC ACATACCAGAATCTCTGGGACGCACTCAAAGCAGTGTGTAGAGGGAAATT TATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACA CCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCA AAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGA AATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGT TTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAG AAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGA TATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACA AACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTC CTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCT GAATAGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTAC CAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAG AGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAAT AGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATAC TGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCA ATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAA CCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCT TCATCCCTGGGATGCAAGGCTGGTTCAATACACGCAAATCAATAAATGTA ATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAAT AGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAA CTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCT ATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGA AGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCAC TCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAG AAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCT GTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCC AAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAA ATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAAC AGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAA TAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAG GAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATG GAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGG CCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTA CCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATG GAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACA AAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACA GTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATG GAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGA TCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTT AATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACT GGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAG ATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGC ATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACC AAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAAC TAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAA CCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCT AATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAA ACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAA GAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACAC CAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGA GGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAT GAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC GGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGTAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA AAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATATGAA AAAAAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | NA18975.hp1 NA18975.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0065 | 1 | 340 | 0.0029 | 6118 | c.278 others(6137): Show c.2787+1116_2787+1117insTTTTTTTTTTTTTTTTTTTTTCATAT TCTTCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGG GCATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAA ACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGG TATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAG ATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTAC AGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAG CACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAG ATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATG ATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAG AAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTT TTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTT TGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTG TTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAAT TAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTT TGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGG TTTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAAT CCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCA GCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGG GAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATA GTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGAT CTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCC TTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTT TTGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGA ACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTG ATGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTT CACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGT TTGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAG AGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTT TGAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTC TGTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTAT CCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGA GACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACA ATTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGC CTGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGA GAGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTT TTTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTT ATTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAG CATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGA TAATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTT ATTGATTTGCGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCAC TTGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCA GTATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTA AAATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGAT GCTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATT GGAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAG AATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACT ATTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCTATTCAGAGATT CAACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTA TCCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTA TTCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTT TATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATT AGTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCT CCTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCA GTTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGT GTTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAAT TTTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCC CTCTACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCT TTGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTT ATGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTG AGCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTG TGGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAG GAGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTG GTGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAG ATGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATC CTTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGT TAAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCA CTGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAAT ATTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGT AATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTA TCAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTG GTAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACG TGAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATC CAACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATT TAAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAG CTGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGT CTTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCAGTTGTTCCTTTC CATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGA CAAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCA CTTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTT TTCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGG TTTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTA ACCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAAC TTTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGT ATCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTT GCTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAA CTTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGAT TTGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTT TTTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTC ATCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGA GGCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATC AGCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTC TAAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCT CCCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCG TCAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCG TTCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTC TGTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGA TGATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGT TAGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATA CCCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGT TAGGCTGCTCGGGGGTCAGGGGTCAGGGACCCACTTGAGGAGGCAGTCTG CCCGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCA AAGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTT TGTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGG CCTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTT TGTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTC GTTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAG ATTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTG GTGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGT GACCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGG GAACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGC TTCGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGG CACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCA CCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTA TTCGGCCATCTTGGCTCCTCCCCTCCATTATTTACTCATTCT |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C C |
CAGAATGA others(6111): Show CAGAATGAGTAAATAATGGAGGGGAGGAGCCAAGATGGCCGAATAGGAAC AGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTC TGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACA GTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGC GAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCC GAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCA CCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGA CTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTG ATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTG GGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGC CGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCT GCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGAC AGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAG AGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTG CCTCCTCAAGTGGGTCCCTGACCCCTGACCCCCGAGCAGCCTAACTGGGA GGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCA ACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCA GAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGA CCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAAC TGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTT CCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTG AGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACAT TCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAAT GTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAG CTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAG CCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGA ATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAAT GAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACG TCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAA ACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAG GCCAACGTTCAGATTCAGGAAATACAGAGAATGCCACAAAGATACTCCTC GAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAA TGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTC AAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACA AGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATT TTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGA GAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCAC CAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGA ACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCG AGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACAT CATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAA ATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAG AGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAG AGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCCA ATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACA GACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAAT GGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATG CACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTA CAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCC ACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCC AGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGA ACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCA CACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCA AATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCA ATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTAC ATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAA TGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACC ACATACCAGAATCTCTGGGACGCACTCAAAGCAGTGTGTAGAGGGAAATT TATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACA CCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCA AAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGA AATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGT TTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAG AAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGA TATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACA AACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTC CTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCT GAATCGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTAC CAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAG AGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAAT AGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATAC TGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCA ATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAA CCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCT TCATCCCTGGGATGCAAGGCTGGTTCAATACACGCAAATCAATAAATGTA ATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAAT AGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAA CTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCT ATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGA AGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCAC TCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAG AAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCT GTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCC AAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAA ATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAAC AGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAA TAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAG GAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATG GAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGG CCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTA CCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATG GAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACA AAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACA GTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATG GAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGA TCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTT AATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACT GGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAG ATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGC ATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACC AAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAAC TAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAA CCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCT AATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAA ACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAA GAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACAC CAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGA GGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAT GAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC GGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGTAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA AAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATATGAA AAAAAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | NA18975.hp2 NA19070.hp2 NA18975.hp2 NA19070.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0100a0001c0003t0003g0294 | 2 | 340 | 0.0059 | 6118 | c.278 others(6137): Show c.2787+1116_2787+1117insTTTTTTTTTTTTTTTTTTTTTCATAT TCTTCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGG GCATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAA ACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGG TATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAG ATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTAC AGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAG CACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAG ATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATG ATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAG AAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTT TTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTT TGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTG TTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAAT TAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTT TGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGG TTTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAAT CCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCA GCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGG GAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATA GTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGAT CTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCC TTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTT TTGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGA ACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTG ATGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTT CACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGT TTGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAG AGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTT TGAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTC TGTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTAT CCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGA GACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACA ATTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGC CTGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGA GAGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTT TTTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTT ATTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAG CATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGA TAATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTT ATTGATTTGCGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCAC TTGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCA GTATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTA AAATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGAT GCTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATT GGAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAG AATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACT ATTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAGATT CAACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTA TCCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTA TTCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTT TATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATT AGTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCT CCTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCA GTTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGT GTTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAAT TTTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCC CTCTACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCT TTGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTT ATGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTG AGCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTG TGGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAG GAGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTG GTGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAG ATGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATC CTTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGT TAAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCA CTGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAAT ATTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGT AATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTA TCAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTGGCTTG GTAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACG TGAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATC CAACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATT TAAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAG CTGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGT CTTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTC CATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGA CAAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCA CTTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTT TTCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGG TTTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTA ACCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAAC TTTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGT ATCTTTGTGGCATTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTT GCTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAA CTTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGAT TTGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTT TTTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTC ATCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGA GGCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATC AGCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTC TAAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCT CCCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCG TCAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCG TTCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTC TGTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGA TGATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGT TAGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATA CCCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGT TAGGCTGCTCGGGGGTCAGGGGTCAGGGACCCACTTGAGGAGGCAGTCTG CCCGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCA AAGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTT TGTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGG CCTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTT TGTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTC GTTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAG ATTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTG GTGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGT GACCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGG GAACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGC TTCGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGG CACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCA CCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTA TTCGGCCATCTTGGCTCCTCCCCTCCATTATTTACTCATTCT |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C C |
CAGAATGA others(6111): Show CAGAATGAGTAAATAATGGAGGGGAGGAGCCAAGATGGCCGAATAGGAAC AGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTC TGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACA GTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGC GAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCC GAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCA CCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGA CTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTG ATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTG GGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGC CGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCT GCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGAC AGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAG AGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTG CCTCCTCAAGTGGGTCCCTGACTCCTGACCCCCGAGCAGCCTAACTGGGA GGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCA ACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCA GAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGA CCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAAC TGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTT CCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTG AGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACAT TCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAAT GTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAG CTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAG CCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGA ATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAAT GAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACG TCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAA ACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAG GCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTC GAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAA TGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTC AAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACA AGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATT TTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGA GAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCAC CAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGA ACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCG AGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACAT CATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAA ATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAG AGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAG AGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCAA ATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACA GACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAAT GGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATG CACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTA CAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCC ACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCC AGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGA ACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCA CACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCA AATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCA ATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTAC ATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAA TGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACC ACATACCAGAATCTCTGGGACGCACTCAAAGCAGTGTGTAGAGGGAAATT TATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACA CCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCA AAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGA AATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGT TTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAG AAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGA TATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACA AACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTC CTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCT GAATCGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTAC CAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAG AGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAAT AGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATAC TGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCA ATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAA CCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCT TCATCCCTGGGATGCAAGGCTGGTTCAATACACACAAATCAATAAATGTA ATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAAT AGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAA CTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCT ATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGA AGCATTCCCTTTGAAAACCAGCACAAGACAGGGATGCCCTCTCTCACCAC TCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAG AAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCT GTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCC AAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAA ATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAAC AGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAA TAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAG GAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATG GAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGG CCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTA CCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATG GAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACA AAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACA GTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATG GAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGA TCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTT AATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACT GGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAG ATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGC ATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACC AAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAAC TAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAA CCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCT AATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAA ACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAA GAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACAC CAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGA GGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAT GAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC GGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGTAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA AAAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATATGA AAAAAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | HG02083.hp2 HG02083.hp2 |
a0001 | a0001c0033 | a0001c0033t0002 | a0001c0033t0002g0066 | 1 | 340 | 0.0029 | 6118 | c.278 others(6137): Show c.2787+1116_2787+1117insTTTTTTTTTTTTTTTTTTTTCATATT CTTCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGG GCATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAA ACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGG TATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAG ATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTAC AGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAG CACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAG ATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATG ATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAG AAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTT TTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTT TGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTG TTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAAT TAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTT TGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGG TTTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAAT CCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCA GCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGG GAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATA GTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGAT CTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCC TTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTT TTGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGA ACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTG ATGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTT CACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGT TTGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAG AGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTT TGAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTC TGTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTAT CCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGA GACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACA ATTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGC CTGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGA GAGAGGGCATCCCTGTCTTGTGCTGGTTTTCAAAGGGAATGCTTCCAGTT TTTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTT ATTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAG CATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGA TAATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTT ATTGATTTGTGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCAC TTGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCA GTATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTA AAATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGAT GCTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATT GGAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAG AATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACT ATTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAGATT CAACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTA TCCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTA TTCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTT TATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATT AGTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCT CCTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCA GTTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGT GTTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAAT TTTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCC CTCTACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCT TTGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTT ATGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTG AGCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTG TGGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAG GAGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTG GTGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAG ATGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATC CTTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGT TAAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCA CTGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAAT ATTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGT AATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTA TCAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTTGCTTG GTAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACG TGAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATC CAACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATT TAAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAG CTGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGT CTTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTC CATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGA CAAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCA CTTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTT TTCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGG TTTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTA ACCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAAC TTTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGT ATCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTT GCTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAA CTTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGAT TTGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTT TTTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTC ATCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGA GGCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATC AGCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTC TAAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCT CCCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCG TCAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCG TTCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTC TGTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGA TGATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGT TAGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATA CCCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGT TAGGCTGCTCGGGGGTCAGGAGTCAGGGACCCACTTGAGGAGGCAGTCTG CCCGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCA AAGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTT TGTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGG CCTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTT TGTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTC GTTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAG ATTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTG GTGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGT GACCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGG GAACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGC TTCGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGG CACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCA CCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTA TTCGGCCATCTTGGCTCCTCCCCTCCATTATTTACTCATTCT |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar | ||||||
SCN5A_chr3_38543062_38654687 | 38584574 | C C |
CAGAATGA others(6111): Show CAGAATGAGTAAATAATGGAGGGGAGGAGCCAAGATGGCCGAATAGGAAC AGCTCCGGTCTACAGCTCCCAGCGTGAGCGACGCAGAAGACGGTGATTTC TGCATTTCCATCTGAGGTACCGGGTTCATCTCACTAGGGAGTGCCAGACA GTGGGCGCAGGCCAGTGTGTGTGCGCACCGTGCGCGAGCCGAAGCAGGGC GAGGCATTGCCTCACCTGGGAAGCGCAAGGGGTCAGGGAGTTCCCTTTCC GAGTCAAAGAAAGGGGTGACGGACGCACCTGGAAAATCGGGTCACTCCCA CCCGAATATTGCGCTTTTCAGACCGGCTTAAGAAACGGCGCACCACGAGA CTATATCCCACACCTGGCTCGGAGGGTCCTACGCCCACGGAATCTCGCTG ATTGCTAGCACAGCAGTCTGAGATCAAACTGCAAGGCGGCAACGAGGCTG GGGGAGGGGCGCCCGCCATTGCCCAGGCTTGCTTAGGTAAACAAAGCAGC CGGGAAGCTCGAACTGGGTGGAGCCCACCACAGCTCAAGGAGGCCTGCCT GCCTCTGTAGGCTCCACCTCTGGGGGCAGGGCACAGACAAACAAAAAGAC AGCAGTAACCTCTGCAGACTTAAGTGTCCCTGTCTGACAGCTTTGAAGAG AGCAGTGGTTCTCCCAGCACGCAGCTGGAGATCTGAGAACGGGCAGACTG CCTCCTCAAGTGGGTCCCTGACTCCTGACCCCCGAGCAGCCTAACTGGGA GGCACCCCCCAGCAGGGGCACACTGACACCTCACACGGCAGGGTATTCCA ACAGACCTGCAGCTGAGGGTCCTGTCTGTTAGAAGGAAAACTAACAACCA GAAAGGACATCTACACCGAAAACCCATCTGTACATCACCATCATCAAAGA CCAAAAGTAGATAAAACCACAAAGATGGGGAAAAAACAGAACAGAAAAAC TGGAAACTCTAAAACGCAGAGCGCCTCTCCTCCTCCAAAGGAACGCAGTT CCTCACCAGCAACAGAACAAAGCTGGATGGAGAATGATTTTGACGAGCTG AGAGAAGAAGGCTTCAGACGATCAAATTACTCTGAGCTACGGGAGGACAT TCAAACCAAAGGCAAAGAAGTTGAAAACTTTGAAAAAAATTTAGAAGAAT GTATAACTAGAATAACCAATACAGAGAAGTGCTTAAAGGAGCTGATGGAG CTGAAAACCAAGGCTCGAGAACTACGTGAAGAATGCAGAAGCCTCAGGAG CCGATGCGATCAACTGGAAGAAAGGGTATCAGCAATGGAAGATGAAATGA ATGAAATGAAGCGAGAAGGGAAGTTTAGAGAAAAAAGAATAAAAAGAAAT GAGCAAAGCCTCCAAGAAATATGGGACTATGTGAAAAGACCAAATCTACG TCTGATTGGTGTACCTGAAAGTGATGTGGAGAATGGAACCAAGTTGGAAA ACACTCTGCAGGATATTATCCAGGAGAACTTCCCCAATCTAGCAAGGCAG GCCAACGTTCAGATTCAGGAAATACAGAGAACGCCACAAAGATACTCCTC GAGAAGAGCAACTCCAAGACACATAATTGTCAGATTCACCAAAGTTGAAA TGAAGGAAAAAATGTTAAGGGCAGCCAGAGAGAAAGGTCGGGTTACCCTC AAAGGAAAGCCCATCAGACTAACAGCGGATCTCTCGGCAGAAACCCTACA AGCCAGAAGAGAGTGGGGGCCAATATTCAACATTCTTAAAGAAAAGAATT TTCAACCCAGAATTTCATATCCAGCCAAACTAAGCTTCATAAGTGAAGGA GAAATAAAATACTTTATAGACAAGCAAATGTTGAGAGATTTTGTCACCAC CAGGCCTGCCCTAAAAGAGCTCCTGAAGGAAGCGCTAAACATGGAAAGGA ACAACCGGTACCAGCCGCTGCAAAATCATGCCAAAATGTAAAGACCATCG AGACTAGGAAGAAACTGCATCAACTAATGAGCAAAATCACCAGCTAACAT CATAATGACAGGATCAAATTCACACATAACAATATTAACTTTAAATATAA ATGGACTAAATTCTGCAATTAAAAGACACAGACTGGCAAGTTGGATAAAG AGTCAAGACCCATCAGTGTGCTGTATTCAGGAAACCCATCTCACGTGCAG AGACACACATAGGCTCAAAATAAAAGGATGGAGGAAGATCTACCAAGCAA ATGGAAAACAAAAAAAGGCAGGGGTTGCAATCCTAGTCTCTGATAAAACA GACTTTAAACCAACAAAGATCAAAAGAGACAAAGAAGGCCATTACATAAT GGTAAAGGGATCAATTCAACAAGAGGAGCTAACTATCCTAAATATTTATG CACCCAATACAGGAGCACCCAGATTCATAAAGCAAGTCCTCAGTGACCTA CAAAGAGACTTAGACTCCCACACATTAATAATGGGAGACTTTAACACCCC ACTGTCAACATTAGACAGATCAACGAGACAGAAAGTCAACAAGGATACCC AGGAATTGAACTCAGCTCTGCACCAAGCAGACCTAATAGACATCTACAGA ACTCTCCACCCCAAATCAACAGAATATACATTTTTTTCAGCACCACACCA CACCTATTCCAAAATTGACCACATAGTTGGAAGTAAAGCTCTCCTCAGCA AATGTAAAAGAACAGAAATTATAACAAACTATCTCTCAGACCACAGTGCA ATCAAACTAGAACTCAGGATTAAGAATCTCACTCAAAGCCGCTCAACTAC ATGGAAACTGAACAACCTGCTCCTGAATGACTACTGGGTACATAACGAAA TGAAGGCAGAAATAAAGATGTTCTTTGAAACCAACGAGAACAAAGACACC ACATACCAGAATCTCTGGGACGCACTCAAAGCAGTGTGTAGAGGGAAATT TATAGCACTAAATGCCTACAAGAGAAAGCAGGAAAGATCCAAAATTGACA CCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCA AAAGCTAGCAGAAGGCAAGAAATAACTAAAATCAGAGCAGAACTGAAGGA AATAGAGACACAAAAAACCCTTCAAAAAATCAATGAATCCAGGAGCTGGT TTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAG AAAAAAAGAGAGAAGAATCAAATAGACACAATAAAAAATGATAAAGGGGA TATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACA AACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATACATTC CTCGACACATACACTCTCCCAAGACTAAACCAGGAAGAAGTTGAATCTCT GAATCGACCAATAACAGGCTCTGAAATTGTGGCAATAATCAATAGTTTAC CAACCAAAAAGAGTCCAGGACCAGATGGATTCACAGCCGAATTCTACCAG AGGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAAT AGAAAAAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATAC TGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCA ATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAA CCGAATCCAGCAGCACATCAAAAAGCTTATCCACCATGATCAAGTGGGCT TCATCCCTGGGATGCAAGGCTGGTTCAATACACACAAATCAATAAATGTA ATCCAGCATATAAACAGAGCCAAAGACAAAAACCACATGATTATCTCAAT AGATGCAGAAAAAGCCTTTGACAAAATTCAACAACCCTTCATGCTAAAAA CTCTCAATAAATTAGGTATTGATGGGACGTATTTCAAAATAATAAGAGCT ATCTATGACAAACCCACAGCCAATATCATACTGAATGGGCAAAAACTGGA AGCATTCCCTTTGAAAACCGGCACAAGACAGGGATGCCCTCTCTCACCAC TCCTATTCAACATAGTGTTGGAAGTTCTGGCCAGGGCAATCAGGCAGGAG AAGGAAATAAAGGGTATTCAATTAGGAAAAGAGGAAGTCAAATTGTCCCT GTTTGCAGACGACATGATTGTTTATCTAGAAAACCCCATCGTCTCAGCCC AAAATCTCCTTAAGCTGATAAGCAACTTCAGCAAAGTCTCAGGATACAAA ATCAATGTACAAAAATCACAAGCATTCTTATACACCAACAACAGACAAAC AGAGAGCCAAATCATGGGTGAACTCCCATTCACAATTGCTTCAAAGAGAA TAAAATACCTAGGAATCCAACTTACAAGGGATGTGAAGGACCTCTTCAAG GAGAACTACAAACCACTGCTCAAGGAAATAAAAGAGGAGACAAACAAATG GAAGAACATTCCATGCTCATGGGTAGGAAGAATCAATATCGTGAAAATGG CCATACTGCCCAAGGTAATTTACAGATTCAATGCCATCCCCATCAAGCTA CCAATGACTTTCTTCACAGAATTGGAAAAAACTACTTTAAAGTTCATATG GAACCAAAAAAGAGCCCGCATTGCCAAGTCAATCCTAAGCCAAAAGAACA AAGCTGGAGGCATCACACTACCTGACTTCAAACTATACTACAAGGCTACA GTAACCAAAACAGCATGGTACTGGTACCAAAACAGAGATATAGATCAATG GAACAGAACAGAGCCCTCAGAAATAATGCCGCATATCTACAACTATCTGA TCTTTGACAAACCTGAGAAAAACAAGCAATGGGGAAAGGATTCCCTATTT AATAAATGGTGCTGGGAAAACTGGCTAGCCATATGTAGAAAGCTGAAACT GGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAG ATTTAAACGTTAAACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGC ATTACCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACC AAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAAC TAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAA CCTACAACATGGGAGAAAATTTTTGCAACCTACTCATCTGACAAAGGGCT AATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAA ACAACCCCATCAAAAAGTGGGCGAAGGACATGAACAGACACTTCTCAAAA GAAGACATTTATGCAGCCAAAAAACACATGAAGAAATGCTCATCATCACT GGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCATCTCACAC CAGTTAGAATGGCAATCATTAAAAAGTCAGGAAACAACAGGTGCTGGAGA GGATGCGGAGAAATAGGAACACTTTTACACTGTTGGTGGGACTGTAAACT AGTTCAACCATTGTGGAAGTCAGTGTGGCGATTCCTCAGGGATCTAGAAC TAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAT GAGTATAAATCATGCTGCTATAAAGACACATGCACACGTATGTTTATTGC GGCACTATTCACAATAGCAAAGACTTGGAACCAACCCAAATGCCCAACAA TGATAGACTGGATTAAGAAAATGTGGCACATATACACCATGGAATACTAT GCAGCCATAAAAAATGATGAGTTCATATCCTTTGTAGGGACATGGATGAA ATTGGAAACCATCATTCTCAGTAAACTATCGCAAGAACAAAAAACCAAAC ACCGCATATTCTCACTCATAGGTGGTAATTGAACAATGAGATCACATGGA CACAGGAAGGGGAATATCACACTCTGGGGACTGTGGTGGGGTCGGGGGAG GGGGGAGGGATAGCATTGGGAGATATACCTAATGCTAGATGACACATTAG TGGGTGCAGTGCACCAGCATGGCACATGTATACATATGTAACTAACCTGC ACAATGTGCACATGTACCCTAAAACTTAGAGTATAATAAAAAAAAAAAAA AAAAAGAATTGTAAAAAAAAAAATTATAAATAAAACAAAGAAGAATATGA AAAAAAAAAAAAAAAAAAA |
intron_variant intron_variant |
MODIFIER | HG01070.hp2 HG01943.hp1 HG01975.hp2 others(15): Show HG01070.hp2 HG01943.hp1 HG01975.hp2 HG02004.hp2 HG02015.hp1 HG02027.hp2 HG02523.hp1 NA18612.hp1 NA18960.hp2 NA18972.hp1 NA18974.hp2 NA18995.hp1 NA19007.hp2 NA19057.hp1 NA19079.hp1 NA19083.hp1 NA19085.hp2 NA19088.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0107a0001c0001t0002g0199a0001c0001t0002g0255others(14): Show a0001c0001t0002g0107a0001c0001t0002g0199a0001c0001t0002g0255a0001c0001t0002g0309a0001c0001t0002g0310a0001c0001t0002g0312a0001c0001t0002g0320a0001c0001t0003g0154a0001c0001t0004g0301a0001c0001t0004g0302a0001c0001t0004g0326a0001c0002t0001g0174a0001c0002t0001g0276a0001c0002t0001g0323a0001c0003t0002g0002a0001c0003t0002g0084a0001c0003t0002g0167 |
18 | 340 | 0.0529 | 6118 | c.278 others(6137): Show c.2787+1116_2787+1117insTTTTTTTTTTTTTTTTTTTTCATATT CTTCTTTGTTTTATTTATAATTTTTTTTTTTACAATTCTTTTTTTTTTTT TTTTTTATTATACTCTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTT AGTTACATATGTATACATGTGCCATGCTGGTGCACTGCACCCACTAATGT GTCATCTAGCATTAGGTATATCTCCCAATGCTATCCCTCCCCCCTCCCCC GACCCCACCACAGTCCCCAGAGTGTGATATTCCCCTTCCTGTGTCCATGT GATCTCATTGTTCAATTACCACCTATGAGTGAGAATATGCGGTGTTTGGT TTTTTGTTCTTGCGATAGTTTACTGAGAATGATGGTTTCCAATTTCATCC ATGTCCCTACAAAGGATATGAACTCATCATTTTTTATGGCTGCATAGTAT TCCATGGTGTATATGTGCCACATTTTCTTAATCCAGTCTATCATTGTTGG GCATTTGGGTTGGTTCCAAGTCTTTGCTATTGTGAATAGTGCCGCAATAA ACATACGTGTGCATGTGTCTTTATAGCAGCATGATTTATACTCATTTGGG TATATACCCAGTAATGGGATGGCTGGGTCAAATGGTATTTCTAGTTCTAG ATCCCTGAGGAATCGCCACACTGACTTCCACAATGGTTGAACTAGTTTAC AGTCCCACCAACAGTGTAAAAGTGTTCCTATTTCTCCGCATCCTCTCCAG CACCTGTTGTTTCCTGACTTTTTAATGATTGCCATTCTAACTGGTGTGAG ATGATATCTCATAGTGGTTTTGATTTGCATTTCTCTGATGGCCAGTGATG ATGAGCATTTCTTCATGTGTTTTTTGGCTGCATAAATGTCTTCTTTTGAG AAGTGTCTGTTCATGTCCTTCGCCCACTTTTTGATGGGGTTGTTTGTTTT TTTCTTGTAAATTTGTTTGAGTTCATTGTAGATTCTGGATATTAGCCCTT TGTCAGATGAGTAGGTTGCAAAAATTTTCTCCCATGTTGTAGGTTGCCTG TTCACTCTGATGGTAGTTTCTTTTGCTGTGCAGAAGCTCTTTAGTTTAAT TAGATCCCATTTGTCAATTTTGTCTTTTGTTGCCATTGCTTTTGGTGTTT TGGACATGAAGTCCTTGCCCACGCCTATGTCCTGAATGGTAATGCCTAGG TTTTCTTCTAGGGTTTTTATGGTTTTAGGTTTAACGTTTAAATCTTTAAT CCATCTTGAATTGATTTTTGTATAAGGTGTAAGGAAGGGATCCAGTTTCA GCTTTCTACATATGGCTAGCCAGTTTTCCCAGCACCATTTATTAAATAGG GAATCCTTTCCCCATTGCTTGTTTTTCTCAGGTTTGTCAAAGATCAGATA GTTGTAGATATGCGGCATTATTTCTGAGGGCTCTGTTCTGTTCCATTGAT CTATATCTCTGTTTTGGTACCAGTACCATGCTGTTTTGGTTACTGTAGCC TTGTAGTATAGTTTGAAGTCAGGTAGTGTGATGCCTCCAGCTTTGTTCTT TTGGCTTAGGATTGACTTGGCAATGCGGGCTCTTTTTTGGTTCCATATGA ACTTTAAAGTAGTTTTTTCCAATTCTGTGAAGAAAGTCATTGGTAGCTTG ATGGGGATGGCATTGAATCTGTAAATTACCTTGGGCAGTATGGCCATTTT CACGATATTGATTCTTCCTACCCATGAGCATGGAATGTTCTTCCATTTGT TTGTCTCCTCTTTTATTTCCTTGAGCAGTGGTTTGTAGTTCTCCTTGAAG AGGTCCTTCACATCCCTTGTAAGTTGGATTCCTAGGTATTTTATTCTCTT TGAAGCAATTGTGAATGGGAGTTCACCCATGATTTGGCTCTCTGTTTGTC TGTTGTTGGTGTATAAGAATGCTTGTGATTTTTGTACATTGATTTTGTAT CCTGAGACTTTGCTGAAGTTGCTTATCAGCTTAAGGAGATTTTGGGCTGA GACGATGGGGTTTTCTAGATAAACAATCATGTCGTCTGCAAACAGGGACA ATTTGACTTCCTCTTTTCCTAATTGAATACCCTTTATTTCCTTCTCCTGC CTGATTGCCCTGGCCAGAACTTCCAACACTATGTTGAATAGGAGTGGTGA GAGAGGGCATCCCTGTCTTGTGCCGGTTTTCAAAGGGAATGCTTCCAGTT TTTGCCCATTCAGTATGATATTGGCTGTGGGTTTGTCATAGATAGCTCTT ATTATTTTGAAATACGTCCCATCAATACCTAATTTATTGAGAGTTTTTAG CATGAAGGGTTGTTGAATTTTGTCAAAGGCTTTTTCTGCATCTATTGAGA TAATCATGTGGTTTTTGTCTTTGGCTCTGTTTATATGCTGGATTACATTT ATTGATTTGTGTGTATTGAACCAGCCTTGCATCCCAGGGATGAAGCCCAC TTGATCATGGTGGATAAGCTTTTTGATGTGCTGCTGGATTCGGTTTGCCA GTATTTTATTGAGGATTTTTGCATCAATGTTCATCAAGGATATTGGTCTA AAATTCTCTTTTTTGGTTGTGTCTCTGCCCGGCTTTGGTATCAGTATGAT GCTGGCCTCATAAAATGAGTTAGGGAGGATTCCCTCTTTTTCTATTGATT GGAATAGTTTCAGAAGGAATGGTACCAGTTCCTCCTTGTACCTCTGGTAG AATTCGGCTGTGAATCCATCTGGTCCTGGACTCTTTTTGGTTGGTAAACT ATTGATTATTGCCACAATTTCAGAGCCTGTTATTGGTCGATTCAGAGATT CAACTTCTTCCTGGTTTAGTCTTGGGAGAGTGTATGTGTCGAGGAATGTA TCCATTTCTTCTAGATTTTCTAGTTTATTTGCGTAGAGGTGTTTGTAGTA TTCTCTGATGGTAGTTTGTATTTCTGTGGGATCGGTGGTGATATCCCCTT TATCATTTTTTATTGTGTCTATTTGATTCTTCTCTCTTTTTTTCTTTATT AGTCTTGCTAGCGGTCTATCAATTTTGTTGATCCTTTCAAAAAACCAGCT CCTGGATTCATTGATTTTTTGAAGGGTTTTTTGTGTCTCTATTTCCTTCA GTTCTGCTCTGATTTTAGTTATTTCTTGCCTTCTGCTAGCTTTTGAATGT GTTTGCTCTTGCTTTTCTAGTTCTTTTAATTGTGATGTTAGGGTGTCAAT TTTGGATCTTTCCTGCTTTCTCTTGTAGGCATTTAGTGCTATAAATTTCC CTCTACACACTGCTTTGAGTGCGTCCCAGAGATTCTGGTATGTGGTGTCT TTGTTCTCGTTGGTTTCAAAGAACATCTTTATTTCTGCCTTCATTTCGTT ATGTACCCAGTAGTCATTCAGGAGCAGGTTGTTCAGTTTCCATGTAGTTG AGCGGCTTTGAGTGAGATTCTTAATCCTGAGTTCTAGTTTGATTGCACTG TGGTCTGAGAGATAGTTTGTTATAATTTCTGTTCTTTTACATTTGCTGAG GAGAGCTTTACTTCCAACTATGTGGTCAATTTTGGAATAGGTGTGGTGTG GTGCTGAAAAAAATGTATATTCTGTTGATTTGGGGTGGAGAGTTCTGTAG ATGTCTATTAGGTCTGCTTGGTGCAGAGCTGAGTTCAATTCCTGGGTATC CTTGTTGACTTTCTGTCTCGTTGATCTGTCTAATGTTGACAGTGGGGTGT TAAAGTCTCCCATTATTAATGTGTGGGAGTCTAAGTCTCTTTGTAGGTCA CTGAGGACTTGCTTTATGAATCTGGGTGCTCCTGTATTGGGTGCATAAAT ATTTAGGATAGTTAGCTCCTCTTGTTGAATTGATCCCTTTACCATTATGT AATGGCCTTCTTTGTCTCTTTTGATCTTTGTTGGTTTAAAGTCTGTTTTA TCAGAGACTAGGATTGCAACCCCTGCCTTTTTTTGTTTTCCATTTGCTTG GTAGATCTTCCTCCATCCTTTTATTTTGAGCCTATGTGTGTCTCTGCACG TGAGATGGGTTTCCTGAATACAGCACACTGATGGGTCTTGACTCTTTATC CAACTTGCCAGTCTGTGTCTTTTAATTGCAGAATTTAGTCCATTTATATT TAAAGTTAATATTGTTATGTGTGAATTTGATCCTGTCATTATGATGTTAG CTGGTGATTTTGCTCATTAGTTGATGCAGTTTCTTCCTAGTCTCGATGGT CTTTACATTTTGGCATGATTTTGCAGCGGCTGGTACCGGTTGTTCCTTTC CATGTTTAGCGCTTCCTTCAGGAGCTCTTTTAGGGCAGGCCTGGTGGTGA CAAAATCTCTCAACATTTGCTTGTCTATAAAGTATTTTATTTCTCCTTCA CTTATGAAGCTTAGTTTGGCTGGATATGAAATTCTGGGTTGAAAATTCTT TTCTTTAAGAATGTTGAATATTGGCCCCCACTCTCTTCTGGCTTGTAGGG TTTCTGCCGAGAGATCCGCTGTTAGTCTGATGGGCTTTCCTTTGAGGGTA ACCCGACCTTTCTCTCTGGCTGCCCTTAACATTTTTTCCTTCATTTCAAC TTTGGTGAATCTGACAATTATGTGTCTTGGAGTTGCTCTTCTCGAGGAGT ATCTTTGTGGCGTTCTCTGTATTTCCTGAATCTGAACGTTGGCCTGCCTT GCTAGATTGGGGAAGTTCTCCTGGATAATATCCTGCAGAGTGTTTTCCAA CTTGGTTCCATTCTCCACATCACTTTCAGGTACACCAATCAGACGTAGAT TTGGTCTTTTCACATAGTCCCATATTTCTTGGAGGCTTTGCTCATTTCTT TTTATTCTTTTTTCTCTAAACTTCCCTTCTCGCTTCATTTCATTCATTTC ATCTTCCATTGCTGATACCCTTTCTTCCAGTTGATCGCATCGGCTCCTGA GGCTTCTGCATTCTTCACGTAGTTCTCGAGCCTTGGTTTTCAGCTCCATC AGCTCCTTTAAGCACTTCTCTGTATTGGTTATTCTAGTTATACATTCTTC TAAATTTTTTTCAAAGTTTTCAACTTCTTTGCCTTTGGTTTGAATGTCCT CCCGTAGCTCAGAGTAATTTGATCGTCTGAAGCCTTCTTCTCTCAGCTCG TCAAAATCATTCTCCATCCAGCTTTGTTCTGTTGCTGGTGAGGAACTGCG TTCCTTTGGAGGAGGAGAGGCGCTCTGCGTTTTAGAGTTTCCAGTTTTTC TGTTCTGTTTTTTCCCCATCTTTGTGGTTTTATCTACTTTTGGTCTTTGA TGATGGTGATGTACAGATGGGTTTTCGGTGTAGATGTCCTTTCTGGTTGT TAGTTTTCCTTCTAACAGACAGGACCCTCAGCTGCAGGTCTGTTGGAATA CCCTGCCGTGTGAGGTGTCAGTGTGCCCCTGCTGGGGGGTGCCTCCCAGT TAGGCTGCTCGGGGGTCAGGAGTCAGGGACCCACTTGAGGAGGCAGTCTG CCCGTTCTCAGATCTCCAGCTGCGTGCTGGGAGAACCACTGCTCTCTTCA AAGCTGTCAGACAGGGACACTTAAGTCTGCAGAGGTTACTGCTGTCTTTT TGTTTGTCTGTGCCCTGCCCCCAGAGGTGGAGCCTACAGAGGCAGGCAGG CCTCCTTGAGCTGTGGTGGGCTCCACCCAGTTCGAGCTTCCCGGCTGCTT TGTTTACCTAAGCAAGCCTGGGCAATGGCGGGCGCCCCTCCCCCAGCCTC GTTGCCGCCTTGCAGTTTGATCTCAGACTGCTGTGCTAGCAATCAGCGAG ATTCCGTGGGCGTAGGACCCTCCGAGCCAGGTGTGGGATATAGTCTCGTG GTGCGCCGTTTCTTAAGCCGGTCTGAAAAGCGCAATATTCGGGTGGGAGT GACCCGATTTTCCAGGTGCGTCCGTCACCCCTTTCTTTGACTCGGAAAGG GAACTCCCTGACCCCTTGCGCTTCCCAGGTGAGGCAATGCCTCGCCCTGC TTCGGCTCGCGCACGGTGCGCACACACACTGGCCTGCGCCCACTGTCTGG CACTCCCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAATCA CCGTCTTCTGCGTCGCTCACGCTGGGAGCTGTAGACCGGAGCTGTTCCTA TTCGGCCATCTTGGCTCCTCCCCTCCATTATTTACTCATTCT |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 16/27 | chr3 | TogoVar |