Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 102723737 |
|---|---|
| ensemblid | ENSG00000278085.5 |
| hgncid | 51261 |
| symbol | CT45A8 |
| name | cancer/testis antigen family 45 member A8 |
| refseq_nuc | NM_001291535.1 |
| refseq_prot | NP_001278464.1 |
| ensembl_nuc | ENST00000611660.5 |
| ensembl_prot | ENSP00000481184.1 |
| mane_status | MANE Select |
| chr | chrX |
| start | 135846497 |
| end | 135854538 |
| strand | - |
| ver | v1.2 |
| region | chrX:135846497-135854538 |
| region5000 | chrX:135841497-135859538 |
| regionname0 | CT45A8_chrX_135846497_135854538 |
| regionname5000 | CT45A8_chrX_135841497_135859538 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0000 | 0/0 | 0 | 1 | 0 | 0 | 1 | 0 | 0 | 1 | CT45A8_chrX_135841497_135859538 | CT45A8 | copy fasta | chrX | 135841497 | 135859538 |
| a0001 | 0/0 | 189 | 4 | 1 | 0 | 3 | 0 | 0 | 2 | CT45A8_chrX_135841497_135859538 | CT45A8 | copy fasta | chrX | 135841497 | 135859538 |
| a0002 | 0/0 | 122 | 1 | 0 | 0 | 0 | 1 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | copy fasta | chrX | 135841497 | 135859538 |
| a0003 | 0/0 | 189 | 1 | 1 | 0 | 0 | 0 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | copy fasta | chrX | 135841497 | 135859538 |
| a0004 | 0/0 | 189 | 1 | 0 | 0 | 1 | 0 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | copy fasta | chrX | 135841497 | 135859538 |
| chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/0 | 570 | 4 | 1 | 0 | 3 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | copy fasta | chrX | 135841497 | 135859538 |
| c0002 | 0/0 | 570 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | copy fasta | chrX | 135841497 | 135859538 |
| c0003 | 0/0 | 570 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | copy fasta | chrX | 135841497 | 135859538 |
| c0004 | 0/0 | 570 | 1 | 0 | 0 | 0 | 1 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | copy fasta | chrX | 135841497 | 135859538 |
| c0005 | 0/0 | 571 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | copy fasta | chrX | 135841497 | 135859538 |
| thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 0/0 | 441 | 4 | 1 | 0 | 3 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | copy fasta | chrX | 135841497 | 135859538 |
| t0002 | 0/0 | 441 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | copy fasta | chrX | 135841497 | 135859538 |
| t0003 | 0/0 | 444 | 1 | 0 | 0 | 0 | 1 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | copy fasta | chrX | 135841497 | 135859538 |
| t0004 | 0/0 | 441 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | copy fasta | chrX | 135841497 | 135859538 |
| t0005 | 0/0 | 442 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | copy fasta | chrX | 135841497 | 135859538 |
| ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
| g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
| g0003 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
| g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
| g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
| g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
| g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
| achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0000c0005 | 0/0 | 571 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | copy fasta | chrX | 135841497 | 135859538 |
| a0001c0001 | 0/0 | 570 | 4 | 1 | 0 | 3 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | copy fasta | chrX | 135841497 | 135859538 |
| a0002c0004 | 0/0 | 570 | 1 | 0 | 0 | 0 | 1 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | copy fasta | chrX | 135841497 | 135859538 |
| a0003c0003 | 0/0 | 570 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | copy fasta | chrX | 135841497 | 135859538 |
| a0004c0002 | 0/0 | 570 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | copy fasta | chrX | 135841497 | 135859538 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0000c0005t0004 | 0/0 | 1011 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | copy fasta | chrX | 135841497 | 135859538 |
| a0001c0001t0001 | 0/0 | 1010 | 3 | 0 | 0 | 3 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | copy fasta | chrX | 135841497 | 135859538 |
| a0001c0001t0002 | 0/0 | 1010 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | copy fasta | chrX | 135841497 | 135859538 |
| a0002c0004t0003 | 0/0 | 1013 | 1 | 0 | 0 | 0 | 1 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | copy fasta | chrX | 135841497 | 135859538 |
| a0003c0003t0001 | 0/0 | 1010 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | copy fasta | chrX | 135841497 | 135859538 |
| a0004c0002t0005 | 0/0 | 1011 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | copy fasta | chrX | 135841497 | 135859538 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0000c0005t0004g0006 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
| a0001c0001t0001g0001 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
| a0001c0001t0001g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
| a0001c0001t0002g0002 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
| a0002c0004t0003g0003 | 0/0 | 1 | 0 | 0 | 0 | 1 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
| a0003c0003t0001g0007 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
| a0004c0002t0005g0004 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00280 | hp1 | a0002 | c0004 | t0003 | g0003 | EUR | FIN | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
| HG00438 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | CHS | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
| HG00438 | hp2 | a0004 | c0002 | t0005 | g0004 | EAS | CHS | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
| HG03139 | hp1 | a0001 | c0001 | t0002 | g0002 | AFR | ESN | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
| NA18983 | hp1 | a0000 | c0005 | t0004 | g0006 | EAS | JPT | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
| NA18990 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
| NA19079 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
| HG02486 | hp1 | a0003 | c0003 | t0001 | g0007 | AFR | ACB | CT45A8_chrX_135841497_135859538 | CT45A8 | chrX | 135841497 | 135859538 |
| chr:pos | ref | alt | # # of ahapid:amino-acid(protein) level |
ahapids | # # of haplotypeids |
haplotypeids | annotation | impact | 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 | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:135846699
|
A | AT | 1 | a0000 | 1 | NA18983.hp1 | frameshift_variant | HIGH | c.562dupA | p.Met188fs | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 5/5 | 807/1010 | 562/570 | 188/189 | chrX | 135846699 | ||
| chrX:135848053
|
AT | A | 1 | a0002 | 1 | HG00280.hp1 | frameshift_variant | HIGH | c.430delA | p.Ile144fs | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/5 | 675/1010 | 430/570 | 144/189 | chrX | 135848053 | ||
| chrX:135848479
|
G | T | 4 | a0000a0001a0002others(1): Show | 7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
missense_variant | MODERATE | c.385C>A | p.Gln129Lys | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 3/5 | 630/1010 | 385/570 | 129/189 | chrX | 135848479 | ||
| chrX:135848519
|
A | AG | 1 | a0002 | 1 | HG00280.hp1 | frameshift_variant | HIGH | c.344dupC | p.Pro116fs | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 3/5 | 589/1010 | 344/570 | 115/189 | chrX | 135848519 | ||
| chrX:135848523
|
A | G | 4 | a0000a0001a0002others(1): Show | 7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
missense_variant | MODERATE | c.341T>C | p.Phe114Ser | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 3/5 | 586/1010 | 341/570 | 114/189 | chrX | 135848523 | ||
| chrX:135850620
|
T | G | 3 | a0000a0001a0002 | 6 | HG00280.hp1 HG00438.hp1 HG03139.hp1 others(3): Show |
missense_variant | MODERATE | c.164A>C | p.Glu55Ala | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/5 | 409/1010 | 164/570 | 55/189 | chrX | 135850620 |
| chr:pos | ref | alt | # # of chapid |
chapids | # # of haplotypeids |
haplotypeids | annotation | impact | 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 | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:135848486
|
T | A | 1 | a0002c0004 | 1 | HG00280.hp1 | synonymous_variant | LOW | c.378A>T | p.Ile126Ile | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 3/5 | 623/1010 | 378/570 | 126/189 | chrX | 135848486 |
| chr:pos | ref | alt | # # of thapid:transcript level |
thapids | # # of haplotypeids |
haplotypeids | annotation | impact | 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 | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:135846502
|
G | GA | 1 | a0002c0004t0003 | 1 | HG00280.hp1 | 3_prime_UTR_variant | MODIFIER | c.*189dupT | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 5/5 | 189 | chrX | 135846502 | |||||
| chrX:135846546
|
A | AG | 1 | a0000c0005t0004 | 1 | NA18983.hp1 | 3_prime_UTR_variant | MODIFIER | c.*145dupC | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 5/5 | 145 | chrX | 135846546 | |||||
| chrX:135846559
|
CG | C | 1 | a0000c0005t0004 | 1 | NA18983.hp1 | 3_prime_UTR_variant | MODIFIER | c.*132delC | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 5/5 | 132 | chrX | 135846559 | |||||
| chrX:135846576
|
A | AG | 1 | a0002c0004t0003 | 1 | HG00280.hp1 | 3_prime_UTR_variant | MODIFIER | c.*115dupC | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 5/5 | 115 | chrX | 135846576 | |||||
| chrX:135846587
|
AT | A | 1 | a0000c0005t0004 | 1 | NA18983.hp1 | 3_prime_UTR_variant | MODIFIER | c.*104delA | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 5/5 | 104 | chrX | 135846587 | |||||
| chrX:135846588
|
T | TA | 1 | a0002c0004t0003 | 1 | HG00280.hp1 | 3_prime_UTR_variant | MODIFIER | c.*103dupT | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 5/5 | 103 | chrX | 135846588 | |||||
| chrX:135846618
|
T | TG | 1 | a0000c0005t0004 | 1 | NA18983.hp1 | 3_prime_UTR_variant | MODIFIER | c.*73dupC | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 5/5 | 73 | chrX | 135846618 | |||||
| chrX:135846659
|
T | TG | 1 | a0004c0002t0005 | 1 | HG00438.hp2 | 3_prime_UTR_variant | MODIFIER | c.*32dupC | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 5/5 | 32 | chrX | 135846659 | |||||
| chrX:135854464
|
C | G | 1 | a0001c0001t0002 | 1 | HG03139.hp1 | 5_prime_UTR_variant | MODIFIER | c.-171G>C | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/5 | 3681 | chrX | 135854464 |
| chr:pos | ref | alt | # # of ghapid:genebody level |
ghapids | # # of haplotypeids |
haplotypeids | annotation | impact | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | genebody_biotype | rank | cdna cdna pos length |
cds cds pos length |
aa aa pos length |
distance | status | chr | pos |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| chrX:135846752
|
GA | G | 2 | a0000c0005t0004g0006a0004c0002t0005g0004 | 2 | HG00438.hp2 NA18983.hp1 |
splice_region_variant&intron_variant | LOW | c.513-4delT | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135846752 | ||||||
| chrX:135846762
|
A | AG | 1 | a0004c0002t0005g0004 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.513-14dupC | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135846762 | ||||||
| chrX:135846786
|
GC | G | 1 | a0000c0005t0004g0006 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.513-38delG | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135846786 | ||||||
| chrX:135846810
|
G | GC | 1 | a0000c0005t0004g0006 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.513-62dupG | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135846810 | ||||||
| chrX:135846896
|
G | A | 6 | a0000c0005t0004g0006a0001c0001t0001g0001a0001c0001t0001g0005others(3): Show | 7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.513-147C>T | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135846896 | ||||||
| chrX:135846912
|
G | GT | 1 | a0000c0005t0004g0006 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.513-164dupA | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135846912 | ||||||
| chrX:135846948
|
G | A | 3 | a0000c0005t0004g0006a0001c0001t0001g0001a0001c0001t0001g0005 | 4 | HG00438.hp1 NA18983.hp1 NA18990.hp2 others(1): Show |
intron_variant | MODIFIER | c.513-199C>T | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135846948 | ||||||
| chrX:135846954
|
T | TA | 1 | a0004c0002t0005g0004 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.513-206dupT | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135846954 | ||||||
| chrX:135847010
|
T | A | 1 | a0000c0005t0004g0006 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.513-261A>T | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847010 | ||||||
| chrX:135847130
|
A | AG | 1 | a0000c0005t0004g0006 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.513-382dupC | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847130 | ||||||
| chrX:135847199
|
C | T | 6 | a0000c0005t0004g0006a0001c0001t0001g0001a0001c0001t0001g0005others(3): Show | 7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.513-450G>A | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847199 | ||||||
| chrX:135847229
|
T | TG | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.513-481dupC | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847229 | ||||||
| chrX:135847268
|
G | A | 1 | a0004c0002t0005g0004 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.513-519C>T | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847268 | ||||||
| chrX:135847270
|
T | G | 1 | a0004c0002t0005g0004 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.513-521A>C | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847270 | ||||||
| chrX:135847270
|
T | TC | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.513-522dupG | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847270 | ||||||
| chrX:135847271
|
C | T | 1 | a0004c0002t0005g0004 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.513-522G>A | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847271 | ||||||
| chrX:135847291
|
GC | G | 1 | a0004c0002t0005g0004 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.513-543delG | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847291 | ||||||
| chrX:135847412
|
T | TG | 1 | a0004c0002t0005g0004 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.512+559dupC | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847412 | ||||||
| chrX:135847421
|
A | AG | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.512+550dupC | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847421 | ||||||
| chrX:135847434
|
T | TG | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.512+537dupC | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847434 | ||||||
| chrX:135847455
|
A | T | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.512+517T>A | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847455 | ||||||
| chrX:135847464
|
TA | T | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.512+507delT | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847464 | ||||||
| chrX:135847494
|
A | AG | 1 | a0004c0002t0005g0004 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.512+477dupC | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847494 | ||||||
| chrX:135847508
|
C | T | 6 | a0000c0005t0004g0006a0001c0001t0001g0001a0001c0001t0001g0005others(3): Show | 7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.512+464G>A | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847508 | ||||||
| chrX:135847528
|
AT | A | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.512+443delA | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847528 | ||||||
| chrX:135847560
|
TCC | T | 6 | a0000c0005t0004g0006a0001c0001t0001g0001a0001c0001t0001g0005others(3): Show | 7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.512+410_512+411del others(2): Show |
CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847560 | ||||||
| chrX:135847564
|
C | T | 6 | a0000c0005t0004g0006a0001c0001t0001g0001a0001c0001t0001g0005others(3): Show | 7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.512+408G>A | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847564 | ||||||
| chrX:135847599
|
A | AC | 1 | a0004c0002t0005g0004 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.512+372dupG | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847599 | ||||||
| chrX:135847645
|
C | CA | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.512+326dupT | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847645 | ||||||
| chrX:135847702
|
TA | T | 1 | a0004c0002t0005g0004 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.512+269delT | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847702 | ||||||
| chrX:135847765
|
A | T | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.512+207T>A | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847765 | ||||||
| chrX:135847766
|
T | A | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.512+206A>T | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847766 | ||||||
| chrX:135847767
|
G | T | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.512+205C>A | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847767 | ||||||
| chrX:135847781
|
T | TC | 1 | a0004c0002t0005g0004 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.512+190dupG | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847781 | ||||||
| chrX:135847848
|
G | A | 6 | a0000c0005t0004g0006a0001c0001t0001g0001a0001c0001t0001g0005others(3): Show | 7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.512+124C>T | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847848 | ||||||
| chrX:135847928
|
G | GC | 1 | a0004c0002t0005g0004 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.512+43dupG | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 4/4 | chrX | 135847928 | ||||||
| chrX:135848077
|
G | GA | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.419-13dupT | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 3/4 | chrX | 135848077 | ||||||
| chrX:135848077
|
GA | G | 5 | a0000c0005t0004g0006a0001c0001t0001g0001a0001c0001t0001g0005others(2): Show | 6 | HG00438.hp1 HG00438.hp2 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.419-13delT | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 3/4 | chrX | 135848077 | ||||||
| chrX:135848285
|
AT | A | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.418+160delA | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 3/4 | chrX | 135848285 | ||||||
| chrX:135848362
|
C | CA | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.418+83dupT | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 3/4 | chrX | 135848362 | ||||||
| chrX:135848773
|
TG | T | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.170-80delC | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135848773 | ||||||
| chrX:135848804
|
A | C | 1 | a0001c0001t0001g0005 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.170-110T>G | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135848804 | ||||||
| chrX:135848881
|
A | C | 6 | a0000c0005t0004g0006a0001c0001t0001g0001a0001c0001t0001g0005others(3): Show | 7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.170-187T>G | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135848881 | ||||||
| chrX:135849118
|
A | AT | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.170-425dupA | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135849118 | ||||||
| chrX:135849186
|
TC | T | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.170-493delG | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135849186 | ||||||
| chrX:135849242
|
T | TG | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.170-549_170-548ins others(1): Show |
CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135849242 | ||||||
| chrX:135849249
|
T | C | 6 | a0000c0005t0004g0006a0001c0001t0001g0001a0001c0001t0001g0005others(3): Show | 7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.170-555A>G | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135849249 | ||||||
| chrX:135849269
|
TC | T | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.170-576delG | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135849269 | ||||||
| chrX:135849379
|
T | C | 6 | a0000c0005t0004g0006a0001c0001t0001g0001a0001c0001t0001g0005others(3): Show | 7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.170-685A>G | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135849379 | ||||||
| chrX:135849380
|
G | A | 6 | a0000c0005t0004g0006a0001c0001t0001g0001a0001c0001t0001g0005others(3): Show | 7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.170-686C>T | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135849380 | ||||||
| chrX:135849555
|
A | AG | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.170-862dupC | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135849555 | ||||||
| chrX:135849665
|
C | T | 1 | a0004c0002t0005g0004 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.169+950G>A | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135849665 | ||||||
| chrX:135849762
|
G | GC | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.169+852dupG | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135849762 | ||||||
| chrX:135850021
|
G | A | 6 | a0000c0005t0004g0006a0001c0001t0001g0001a0001c0001t0001g0005others(3): Show | 7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.169+594C>T | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135850021 | ||||||
| chrX:135850043
|
A | AT | 5 | a0000c0005t0004g0006a0001c0001t0001g0001a0001c0001t0001g0005others(2): Show | 6 | HG00438.hp1 HG00438.hp2 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.169+571dupA | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135850043 | ||||||
| chrX:135850043
|
A | ATT | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.169+570_169+571dup others(2): Show |
CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135850043 | ||||||
| chrX:135850049
|
A | G | 1 | a0001c0001t0001g0005 | 1 | HG00438.hp1 | intron_variant | MODIFIER | c.169+566T>C | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135850049 | ||||||
| chrX:135850061
|
G | GA | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.169+553dupT | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135850061 | ||||||
| chrX:135850103
|
C | CG | 1 | a0004c0002t0005g0004 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.169+511dupC | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135850103 | ||||||
| chrX:135850143
|
A | AG | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.169+471dupC | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135850143 | ||||||
| chrX:135850153
|
G | GT | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.169+461_169+462ins others(1): Show |
CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135850153 | ||||||
| chrX:135850167
|
A | AG | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.169+447dupC | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135850167 | ||||||
| chrX:135850355
|
TG | T | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.169+259delC | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135850355 | ||||||
| chrX:135850373
|
C | G | 4 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0002g0002others(1): Show | 5 | HG00438.hp1 HG00438.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.169+242G>C | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135850373 | ||||||
| chrX:135850423
|
T | TA | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.169+191dupT | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135850423 | ||||||
| chrX:135850423
|
T | TAA | 3 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0002g0002 | 4 | HG00438.hp1 HG03139.hp1 NA18990.hp2 others(1): Show |
intron_variant | MODIFIER | c.169+190_169+191dup others(2): Show |
CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135850423 | ||||||
| chrX:135850423
|
TA | T | 1 | a0000c0005t0004g0006 | 1 | NA18983.hp1 | intron_variant | MODIFIER | c.169+191delT | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135850423 | ||||||
| chrX:135850423
|
TAA | T | 1 | a0004c0002t0005g0004 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.169+190_169+191del others(2): Show |
CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135850423 | ||||||
| chrX:135850486
|
A | G | 6 | a0000c0005t0004g0006a0001c0001t0001g0001a0001c0001t0001g0005others(3): Show | 7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.169+129T>C | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135850486 | ||||||
| chrX:135850561
|
T | C | 1 | a0004c0002t0005g0004 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.169+54A>G | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135850561 | ||||||
| chrX:135850595
|
G | A | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.169+20C>T | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135850595 | ||||||
| chrX:135850604
|
G | A | 3 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0002g0002 | 4 | HG00438.hp1 HG03139.hp1 NA18990.hp2 others(1): Show |
intron_variant | MODIFIER | c.169+11C>T | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 2/4 | chrX | 135850604 | ||||||
| chrX:135851137
|
A | AC | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.-6-349dupG | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135851137 | ||||||
| chrX:135851162
|
A | G | 4 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0002g0002others(1): Show | 5 | HG00438.hp1 HG00438.hp2 HG03139.hp1 others(2): Show |
intron_variant | MODIFIER | c.-6-373T>C | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135851162 | ||||||
| chrX:135851438
|
A | G | 1 | a0004c0002t0005g0004 | 1 | HG00438.hp2 | intron_variant | MODIFIER | c.-6-649T>C | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135851438 | ||||||
| chrX:135851495
|
A | AT | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.-6-707dupA | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135851495 | ||||||
| chrX:135851525
|
A | AT | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.-6-737dupA | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135851525 | ||||||
| chrX:135851737
|
A | C | 5 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0002g0002others(2): Show | 6 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(3): Show |
intron_variant | MODIFIER | c.-6-948T>G | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135851737 | ||||||
| chrX:135851785
|
C | T | 6 | a0000c0005t0004g0006a0001c0001t0001g0001a0001c0001t0001g0005others(3): Show | 7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.-6-996G>A | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135851785 | ||||||
| chrX:135851839
|
T | G | 2 | a0000c0005t0004g0006a0001c0001t0002g0002 | 2 | HG03139.hp1 NA18983.hp1 |
intron_variant | MODIFIER | c.-6-1050A>C | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135851839 | ||||||
| chrX:135851976
|
A | AGCAATTC others(28): Show |
1 | a0001c0001t0001g0001 | 2 | NA18990.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.-6-1222_-6-1188dup others(35): Show |
CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135851976 | ||||||
| chrX:135852057
|
A | G | 2 | a0001c0001t0002g0002a0002c0004t0003g0003 | 2 | HG00280.hp1 HG03139.hp1 |
intron_variant | MODIFIER | c.-6-1268T>C | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135852057 | ||||||
| chrX:135852084
|
T | C | 4 | a0000c0005t0004g0006a0001c0001t0001g0001a0001c0001t0001g0005others(1): Show | 5 | HG00438.hp1 HG00438.hp2 NA18983.hp1 others(2): Show |
intron_variant | MODIFIER | c.-6-1295A>G | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135852084 | ||||||
| chrX:135852187
|
T | C | 4 | a0000c0005t0004g0006a0001c0001t0001g0001a0001c0001t0001g0005others(1): Show | 5 | HG00438.hp1 HG00438.hp2 NA18983.hp1 others(2): Show |
intron_variant | MODIFIER | c.-6-1398A>G | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135852187 | ||||||
| chrX:135852189
|
T | G | 4 | a0000c0005t0004g0006a0001c0001t0001g0001a0001c0001t0001g0005others(1): Show | 5 | HG00438.hp1 HG00438.hp2 NA18983.hp1 others(2): Show |
intron_variant | MODIFIER | c.-6-1400A>C | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135852189 | ||||||
| chrX:135852209
|
A | T | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.-6-1420T>A | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135852209 | ||||||
| chrX:135852210
|
C | CTT | 4 | a0000c0005t0004g0006a0001c0001t0001g0001a0001c0001t0001g0005others(1): Show | 5 | HG00438.hp1 HG00438.hp2 NA18983.hp1 others(2): Show |
intron_variant | MODIFIER | c.-6-1423_-6-1422dup others(2): Show |
CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135852210 | ||||||
| chrX:135852210
|
C | CTTT | 1 | a0001c0001t0002g0002 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-6-1424_-6-1422dup others(3): Show |
CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135852210 | ||||||
| chrX:135852210
|
C | T | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.-6-1421G>A | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135852210 | ||||||
| chrX:135852225
|
A | G | 5 | a0000c0005t0004g0006a0001c0001t0001g0001a0001c0001t0001g0005others(2): Show | 6 | HG00438.hp1 HG00438.hp2 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.-6-1436T>C | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135852225 | ||||||
| chrX:135852415
|
A | C | 5 | a0000c0005t0004g0006a0001c0001t0001g0001a0001c0001t0001g0005others(2): Show | 6 | HG00438.hp1 HG00438.hp2 HG03139.hp1 others(3): Show |
intron_variant | MODIFIER | c.-6-1626T>G | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135852415 | ||||||
| chrX:135852600
|
G | A | 6 | a0000c0005t0004g0006a0001c0001t0001g0001a0001c0001t0001g0005others(3): Show | 7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.-7+1700C>T | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135852600 | ||||||
| chrX:135852685
|
C | T | 1 | a0001c0001t0001g0001 | 2 | NA18990.hp2 NA19079.hp2 |
intron_variant | MODIFIER | c.-7+1615G>A | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135852685 | ||||||
| chrX:135852704
|
A | G | 6 | a0000c0005t0004g0006a0001c0001t0001g0001a0001c0001t0001g0005others(3): Show | 7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.-7+1596T>C | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135852704 | ||||||
| chrX:135852946
|
G | A | 1 | a0003c0003t0001g0007 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.-7+1354C>T | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135852946 | ||||||
| chrX:135853067
|
A | AAT | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.-7+1231_-7+1232dup others(2): Show |
CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135853067 | ||||||
| chrX:135853088
|
T | TA | 1 | a0003c0003t0001g0007 | 1 | HG02486.hp1 | intron_variant | MODIFIER | c.-7+1211dupT | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135853088 | ||||||
| chrX:135853088
|
TA | T | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.-7+1211delT | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135853088 | ||||||
| chrX:135853088
|
TAA | T | 1 | a0001c0001t0002g0002 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-7+1210_-7+1211del others(2): Show |
CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135853088 | ||||||
| chrX:135853091
|
A | T | 1 | a0001c0001t0002g0002 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-7+1209T>A | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135853091 | ||||||
| chrX:135853261
|
T | C | 4 | a0000c0005t0004g0006a0001c0001t0001g0001a0001c0001t0001g0005others(1): Show | 5 | HG00438.hp1 HG00438.hp2 NA18983.hp1 others(2): Show |
intron_variant | MODIFIER | c.-7+1039A>G | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135853261 | ||||||
| chrX:135853446
|
TCAAC | T | 6 | a0000c0005t0004g0006a0001c0001t0001g0001a0001c0001t0001g0005others(3): Show | 7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.-7+850_-7+853delGT others(2): Show |
CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135853446 | ||||||
| chrX:135853543
|
T | TC | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.-7+756dupG | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135853543 | ||||||
| chrX:135853615
|
GATA | G | 1 | a0002c0004t0003g0003 | 1 | HG00280.hp1 | intron_variant | MODIFIER | c.-7+682_-7+684delTA others(1): Show |
CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135853615 | ||||||
| chrX:135853649
|
GCATC | G | 6 | a0000c0005t0004g0006a0001c0001t0001g0001a0001c0001t0001g0005others(3): Show | 7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.-7+647_-7+650delGA others(2): Show |
CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135853649 | ||||||
| chrX:135853882
|
A | T | 5 | a0000c0005t0004g0006a0001c0001t0001g0001a0001c0001t0001g0005others(2): Show | 6 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(3): Show |
intron_variant | MODIFIER | c.-7+418T>A | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135853882 | ||||||
| chrX:135854013
|
G | A | 1 | a0001c0001t0002g0002 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-7+287C>T | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135854013 | ||||||
| chrX:135854044
|
C | G | 6 | a0000c0005t0004g0006a0001c0001t0001g0001a0001c0001t0001g0005others(3): Show | 7 | HG00280.hp1 HG00438.hp1 HG00438.hp2 others(4): Show |
intron_variant | MODIFIER | c.-7+256G>C | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135854044 | ||||||
| chrX:135854076
|
C | G | 1 | a0001c0001t0002g0002 | 1 | HG03139.hp1 | intron_variant | MODIFIER | c.-7+224G>C | CT45A8 | ENSG00000278085.5 | transcript | ENST00000611660.5 | protein_coding | 1/4 | chrX | 135854076 |