view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DMD_chrX_31114222_33216549 | 32312942 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG03710.hp1 NA18945.hp1 NA18955.hp1 others(1): Show |
a0001a0004a0006 | a0001c0001a0004c0012a0006c0006 | a0001c0001t0001a0004c0012t0001a0006c0006t0001 | a0001c0001t0001g0033 a0001c0001t0001g0069 a0004c0012t0001g0064 others(1): Show |
4 | 31 | 0.1290 | 30 | c.592 others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 41/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32435275 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0032 | a0032c0045 | a0032c0045t0001 | a0032c0045t0001g0078 | 1 | 43 | 0.0233 | 30 | c.407 others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 29/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32452328 | T | TGAAAGGG others(23): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0023 | a0023c0031 | a0023c0031t0001 | a0023c0031t0001g0086 | 1 | 84 | 0.0119 | 30 | c.360 others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 26/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32483164 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0002 | a0002c0009 | a0002c0009t0007 | a0002c0009t0007g0018 | 1 | 56 | 0.0179 | 30 | c.280 others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 21/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32483164 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01928.hp1 NA18984.hp1 |
a0001a0032 | a0001c0021a0032c0045 | a0001c0021t0001a0032c0045t0001 | a0001c0021t0001g0032 a0032c0045t0001g0078 |
2 | 57 | 0.0351 | 30 | c.280 others(49): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 21/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32585699 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0047 | 1 | 2 | 0.5000 | 30 | c.160 others(51): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 13/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32815520 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0008 | a0003c0008t0018 | a0003c0008t0018g0001 | 1 | 61 | 0.0164 | 30 | c.530 others(45): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 6/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32879014 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02976.hp2 NA18952.hp1 |
a0001a0005 | a0001c0002a0005c0056 | a0001c0002t0001a0005c0056t0001 | a0001c0002t0001g0047 a0005c0056t0001g0103 |
2 | 120 | 0.0167 | 30 | c.94- others(47): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32879014 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0114 | 1 | 119 | 0.0084 | 30 | c.94- others(47): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 32969027 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01258.hp1 | a0019 | a0019c0032 | a0019c0032t0001 | a0019c0032t0001g0009 | 1 | 34 | 0.0294 | 30 | c.93+ others(47): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 2/78 | chrX | TogoVar | |||||||
DMD_chrX_31114222_33216549 | 33108868 | G | GAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0025 | a0025c0026 | a0025c0026t0001 | a0025c0026t0001g0126 | 1 | 14 | 0.0714 | 30 | c.32- others(47): Show |
DMD | ENSG00000198947.18 | transcript | ENST00000357033.9 | protein_coding | 1/78 | chrX | TogoVar | |||||||
DMRT1_chr9_836697_974090 | 840722 | G | GGTGTGTG others(23): Show |
upstream_gene_variant | MODIFIER | HG01257.hp2 NA18950.hp2 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0006 | a0002c0002t0003g0045 a0002c0002t0006g0037 |
2 | 79 | 0.0253 | 30 | c.-11 others(41): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 974 | chr9 | TogoVar | |||||||
DMRT1_chr9_836697_974090 | 842230 | G | GTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0306 | 1 | 97 | 0.0103 | 30 | c.354 others(43): Show |
DMRT1 | ENSG00000137090.12 | transcript | ENST00000382276.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DMRTB1_chr1_53454399_53472488 | 53458073 | C | CAGAGAGA others(23): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012 | 1 | 152 | 0.0066 | 30 | c.-13 others(41): Show |
DMRTB1 | ENSG00000143006.7 | transcript | ENST00000371445.3 | protein_coding | 1325 | chr1 | TogoVar | |||||||
DMRTC1B_chrX_72771890_72853803 | 72776950 | T | TTCCTCCT others(23): Show |
5_prime_UTR_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0014 | 1 | 11 | 0.0909 | 30 | c.-37 others(39): Show |
DMRTC1B | ENSG00000184911.15 | transcript | ENST00000334036.10 | protein_coding | 1/7 | 68133 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DMRTC1_chrX_72867025_72948837 | 72880587 | G | GTTTGCTT others(23): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0017 | 1 | 2 | 0.5000 | 30 | c.-94 others(47): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | |||||||
DMRTC1_chrX_72867025_72948837 | 72943787 | G | GAGGAGGA others(23): Show |
5_prime_UTR_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0002 | 1 | 54 | 0.0185 | 30 | c.-30 others(39): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/7 | 68094 | chrX | TogoVar | ||||||
DMTN_chr8_22051814_22087525 | 22079277 | A | AATAAATA others(23): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 143 | 0.0070 | 30 | c.836 others(45): Show |
DMTN | ENSG00000158856.19 | transcript | ENST00000358242.6 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123321 | G | GGGGAGAG others(23): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02886.hp1 |
a0001a0009 | a0001c0002a0009c0013 | a0001c0002t0004a0009c0013t0001 | a0001c0002t0004g0215 a0009c0013t0001g0041 |
2 | 110 | 0.0182 | 30 | c.110 others(49): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119123399 | G | GGGAGGGA others(23): Show |
intron_variant | MODIFIER | HG02683.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0016 | a0001c0001t0001g0223 a0001c0012t0016g0217 |
2 | 143 | 0.0140 | 30 | c.110 others(49): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 9/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119173774 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG01891.hp2 NA20129.hp1 |
a0001a0009 | a0001c0001a0009c0013 | a0001c0001t0001a0009c0013t0001 | a0001c0001t0001g0142 a0009c0013t0001g0043 |
2 | 212 | 0.0094 | 30 | c.668 others(49): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119173776 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG01261.hp1 others(4): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001a0002c0003t0006 | a0001c0002t0001g0098 a0001c0002t0001g0105 a0001c0002t0001g0116 others(4): Show |
7 | 69 | 0.1014 | 30 | c.668 others(49): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119173776 | G | GTATGTAT others(23): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0128 | 1 | 63 | 0.0159 | 30 | c.668 others(49): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL1_chr5_119066087_119254127 | 119173776 | G | GTGTATAT others(23): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03486.hp2 HG04199.hp1 |
a0001a0005a0021 | a0001c0002a0005c0015a0021c0045 | a0001c0002t0001a0005c0015t0005a0021c0045t0010 | a0001c0002t0001g0131 a0005c0015t0005g0039 a0021c0045t0010g0118 |
3 | 65 | 0.0462 | 30 | c.668 others(49): Show |
DMXL1 | ENSG00000172869.15 | transcript | ENST00000539542.6 | protein_coding | 25/43 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
DMXL2_chr15_51442791_51627771 | 51502306 | T | TTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG02922.hp2 NA18975.hp2 NA18977.hp1 others(1): Show |
a0004a0011 | a0004c0005a0011c0034 | a0004c0005t0001a0011c0034t0007 | a0004c0005t0001g0316 a0004c0005t0001g0318 a0004c0005t0001g0322 others(1): Show |
4 | 191 | 0.0209 | 30 | c.299 others(47): Show |
DMXL2 | ENSG00000104093.14 | transcript | ENST00000560891.6 | protein_coding | 17/43 | chr15 | TogoVar | |||||||
DNAAF11_chr8_132565416_132680545 | 132674147 | A | AGAGAAGG others(23): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01069.hp2 others(8): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0013 a0003c0003t0002g0014 a0003c0003t0002g0015 others(8): Show |
11 | 251 | 0.0438 | 30 | c.10+ others(45): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 1/11 | chr8 | TogoVar | |||||||
DNAAF11_chr8_132565416_132680545 | 132674151 | G | GAGGAGGA others(23): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0004 | a0002c0004t0010 | a0002c0004t0010g0031 | 1 | 248 | 0.0040 | 30 | c.10+ others(45): Show |
DNAAF11 | ENSG00000129295.10 | transcript | ENST00000620350.5 | protein_coding | 1/11 | chr8 | TogoVar | |||||||
DNAAF1_chr16_84140308_84182918 | 84148596 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03471.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0015 a0001c0001t0002g0162 |
3 | 80 | 0.0375 | 30 | c.125 others(45): Show |
DNAAF1 | ENSG00000154099.18 | transcript | ENST00000378553.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DNAAF3_chr19_55153665_55171613 | 55168406 | T | TATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0132 | 1 | 149 | 0.0067 | 30 | c.-18 others(41): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1794 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55168406 | T | TATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0131 | 1 | 149 | 0.0067 | 30 | c.-18 others(41): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1794 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55168406 | T | TATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0130 | 1 | 149 | 0.0067 | 30 | c.-18 others(41): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1794 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55168406 | T | TATATATA others(23): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 HG02897.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0044 a0002c0003t0001g0093 |
2 | 150 | 0.0133 | 30 | c.-18 others(41): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 1794 | chr19 | TogoVar | |||||||
DNAAF3_chr19_55153665_55171613 | 55170850 | T | TTCTCTCT others(23): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG00642.hp2 HG00733.hp2 others(2): Show |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0002 a0003c0002t0001g0072 |
5 | 286 | 0.0175 | 30 | c.-43 others(41): Show |
DNAAF3 | ENSG00000167646.14 | transcript | ENST00000524407.7 | protein_coding | 4238 | chr19 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123782329 | G | GCCTCCCC others(23): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02572.hp1 NA18522.hp2 others(1): Show |
a0027a0032a0044 | a0027c0022a0032c0071a0044c0086 | a0027c0022t0001a0032c0071t0001a0044c0086t0002 | a0027c0022t0001g0120 a0027c0022t0001g0121 a0032c0071t0001g0129 others(1): Show |
4 | 34 | 0.1176 | 30 | c.842 others(45): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 6/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911285 | A | ATCTGTCC others(23): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00741.hp2 HG01168.hp1 others(24): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0041others(13): Show | a0001c0001t0001a0001c0002t0002a0001c0041t0001others(13): Show | a0001c0001t0001g0020 a0001c0001t0001g0059 a0001c0001t0001g0064 others(24): Show |
27 | 167 | 0.1617 | 30 | c.101 others(49): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911291 | C | CCTGGGGG others(23): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 168 | 0.0060 | 30 | c.101 others(49): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911872 | G | GGGGGTCT others(23): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0003 | 1 | 168 | 0.0060 | 30 | c.101 others(51): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123912277 | C | CCTGGGGG others(23): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 168 | 0.0060 | 30 | c.101 others(49): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH11_chr7_21538039_21906839 | 21789798 | T | TTTTTTCT others(23): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0123 | a0123c0246 | a0123c0246t0001 | a0123c0246t0001g0232 | 1 | 295 | 0.0034 | 30 | c.100 others(49): Show |
DNAH11 | ENSG00000105877.19 | transcript | ENST00000409508.8 | protein_coding | 61/81 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57302567 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0124 | 1 | 99 | 0.0101 | 30 | c.111 others(49): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57302567 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02451.hp1 |
a0013a0020 | a0013c0010a0020c0020 | a0013c0010t0002a0020c0020t0004 | a0013c0010t0002g0259 a0020c0020t0004g0219 |
2 | 100 | 0.0200 | 30 | c.111 others(49): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 69/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57333329 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02622.hp1 HG02886.hp1 |
a0008a0017 | a0008c0008a0017c0009 | a0008c0008t0002a0017c0009t0001 | a0008c0008t0002g0046 a0008c0008t0002g0078 a0017c0009t0001g0111 |
3 | 149 | 0.0201 | 30 | c.997 others(49): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 62/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57361444 | C | CACACTAT others(23): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0011 | a0011c0061 | a0011c0061t0002 | a0011c0061t0002g0252 | 1 | 143 | 0.0070 | 30 | c.936 others(49): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 58/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57361444 | C | CACTATAT others(23): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02622.hp2 HG02818.hp1 |
a0008a0016a0047 | a0008c0008a0016c0018a0047c0045 | a0008c0008t0002a0016c0018t0001a0047c0045t0002 | a0008c0008t0002g0046 a0016c0018t0001g0058 a0047c0045t0002g0012 |
3 | 145 | 0.0207 | 30 | c.936 others(49): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 58/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57389822 | G | GTGTATAT others(23): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01106.hp2 NA18947.hp1 others(1): Show |
a0007a0027a0028 | a0007c0007a0027c0021a0028c0090 | a0007c0007t0001a0027c0021t0001a0028c0090t0001 | a0007c0007t0001g0167 a0027c0021t0001g0092 a0027c0021t0001g0098 others(1): Show |
4 | 137 | 0.0292 | 30 | c.730 others(49): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57389822 | G | GTGTGTAT others(23): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0067 | 1 | 134 | 0.0075 | 30 | c.730 others(49): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57389822 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0038 | 1 | 134 | 0.0075 | 30 | c.730 others(49): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57389822 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0064 | a0064c0080 | a0064c0080t0001 | a0064c0080t0001g0164 | 1 | 134 | 0.0075 | 30 | c.730 others(49): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57389839 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01109.hp2 HG04228.hp1 |
a0032a0057 | a0032c0029a0057c0042 | a0032c0029t0001a0057c0042t0001 | a0032c0029t0001g0146 a0057c0042t0001g0059 |
2 | 156 | 0.0128 | 30 | c.730 others(49): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | |||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01891.hp1 |
a0001a0012 | a0001c0001a0012c0025 | a0001c0001t0001a0012c0025t0003 | a0001c0001t0001g0212 a0012c0025t0003g0004 |
2 | 83 | 0.0241 | 30 | c.730 others(49): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar |