Search by Genic region
Multiple Alignments (by aa haplotype frequency)
Multiple Alignments (by aa haplotype similarity)
| geneid | 728911 |
|---|---|
| ensemblid | ENSG00000271449.8 |
| hgncid | 28400 |
| symbol | CT45A2 |
| name | cancer/testis antigen family 45 member A2 |
| refseq_nuc | NM_152582.7 |
| refseq_prot | NP_689795.4 |
| ensembl_nuc | ENST00000612907.2 |
| ensembl_prot | ENSP00000483619.1 |
| mane_status | MANE Select |
| chr | chrX |
| start | 135811668 |
| end | 135820012 |
| strand | - |
| ver | v1.2 |
| region | chrX:135811668-135820012 |
| region5000 | chrX:135806668-135825012 |
| regionname0 | CT45A2_chrX_135811668_135820012 |
| regionname5000 | CT45A2_chrX_135806668_135825012 |
| ahapid | grch38/chm13v2 | alen | total | AFR | AMR | EAS | EUR | SAS | JPT | regionname | genename | aa | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001 | 0/0 | 189 | 22 | 4 | 8 | 10 | 0 | 0 | 6 | CT45A2_chrX_135806668_135825012 | CT45A2 | copy fasta | chrX | 135806668 | 135825012 |
| chapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| c0001 | 0/0 | 570 | 22 | 4 | 8 | 10 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | copy fasta | chrX | 135806668 | 135825012 |
| thapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| t0001 | 0/0 | 752 | 18 | 3 | 7 | 8 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | copy fasta | chrX | 135806668 | 135825012 |
| t0002 | 0/0 | 752 | 3 | 1 | 1 | 1 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | copy fasta | chrX | 135806668 | 135825012 |
| t0003 | 0/0 | 752 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | copy fasta | chrX | 135806668 | 135825012 |
| ghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| g0001 | 0/0 | 4 | 1 | 1 | 2 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| g0002 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| g0004 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| achapid | grch38/chm13v2 | clen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | cseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001 | 0/0 | 570 | 22 | 4 | 8 | 10 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | copy fasta | chrX | 135806668 | 135825012 |
| acthapid | grch38chm13v2 | tlen | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | tseq | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001 | 0/0 | 1321 | 18 | 3 | 7 | 8 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | copy fasta | chrX | 135806668 | 135825012 |
| a0001c0001t0002 | 0/0 | 1321 | 3 | 1 | 1 | 1 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | copy fasta | chrX | 135806668 | 135825012 |
| a0001c0001t0003 | 0/0 | 1321 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | copy fasta | chrX | 135806668 | 135825012 |
| actghapid | grch38/chm13v2 | total | AFR | AMR | EAS | EUR | SAS | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| a0001c0001t0001g0001 | 0/0 | 4 | 1 | 1 | 2 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| a0001c0001t0001g0002 | 0/0 | 2 | 0 | 0 | 2 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| a0001c0001t0001g0004 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| a0001c0001t0001g0005 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| a0001c0001t0001g0006 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| a0001c0001t0001g0007 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| a0001c0001t0001g0008 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| a0001c0001t0001g0009 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| a0001c0001t0001g0010 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| a0001c0001t0001g0012 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| a0001c0001t0001g0013 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| a0001c0001t0001g0016 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| a0001c0001t0001g0017 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| a0001c0001t0001g0018 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| a0001c0001t0002g0011 | 0/0 | 1 | 0 | 1 | 0 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| a0001c0001t0002g0014 | 0/0 | 1 | 1 | 0 | 0 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| a0001c0001t0002g0015 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| a0001c0001t0003g0003 | 0/0 | 1 | 0 | 0 | 1 | 0 | 0 | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| sampleid | ID haplotypeid
|
ahapid | chapid | thapid | ghapid | gpopname | popname | regionname | genename | chr | start | end |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| HG00741 | hp1 | a0001 | c0001 | t0001 | g0012 | AMR | PUR | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| HG00741 | hp2 | a0001 | c0001 | t0001 | g0007 | AMR | PUR | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| HG01106 | hp1 | a0001 | c0001 | t0002 | g0011 | AMR | PUR | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| HG01175 | hp1 | a0001 | c0001 | t0001 | g0008 | AMR | PUR | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| HG01175 | hp2 | a0001 | c0001 | t0001 | g0001 | AMR | PUR | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| HG01255 | hp1 | a0001 | c0001 | t0001 | g0004 | AMR | CLM | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| HG01261 | hp1 | a0001 | c0001 | t0001 | g0016 | AMR | CLM | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| HG01358 | hp1 | a0001 | c0001 | t0001 | g0006 | AMR | CLM | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| HG02080 | hp1 | a0001 | c0001 | t0003 | g0003 | EAS | KHV | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| HG02080 | hp2 | a0001 | c0001 | t0001 | g0001 | EAS | KHV | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| HG02886 | hp1 | a0001 | c0001 | t0001 | g0001 | AFR | GWD | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| HG02886 | hp2 | a0001 | c0001 | t0001 | g0009 | AFR | GWD | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| HG03516 | hp1 | a0001 | c0001 | t0001 | g0017 | AFR | ESN | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| HG03516 | hp2 | a0001 | c0001 | t0002 | g0014 | AFR | ESN | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| NA18612 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | CHB | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| NA18747 | hp1 | a0001 | c0001 | t0001 | g0013 | EAS | CHB | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| NA18942 | hp1 | a0001 | c0001 | t0001 | g0001 | EAS | JPT | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| NA18942 | hp2 | a0001 | c0001 | t0001 | g0010 | EAS | JPT | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| NA18985 | hp2 | a0001 | c0001 | t0001 | g0018 | EAS | JPT | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| NA19000 | hp1 | a0001 | c0001 | t0001 | g0005 | EAS | JPT | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| NA19005 | hp1 | a0001 | c0001 | t0001 | g0002 | EAS | JPT | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| NA19072 | hp1 | a0001 | c0001 | t0002 | g0015 | EAS | JPT | CT45A2_chrX_135806668_135825012 | CT45A2 | chrX | 135806668 | 135825012 |
| 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:135813961
|
G | T | 1 | a0001 | 22 | HG00741.hp1 HG00741.hp2 HG01106.hp1 others(19): Show |
missense_variant | MODERATE | c.385C>A | p.Gln129Lys | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 3/5 | 630/1321 | 385/570 | 129/189 | chrX | 135813961 | ||
| chrX:135814005
|
A | G | 1 | a0001 | 22 | HG00741.hp1 HG00741.hp2 HG01106.hp1 others(19): Show |
missense_variant | MODERATE | c.341T>C | p.Phe114Ser | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 3/5 | 586/1321 | 341/570 | 114/189 | chrX | 135814005 | ||
| chrX:135816102
|
T | G | 1 | a0001 | 22 | HG00741.hp1 HG00741.hp2 HG01106.hp1 others(19): Show |
missense_variant | MODERATE | c.164A>C | p.Glu55Ala | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 2/5 | 409/1321 | 164/570 | 55/189 | chrX | 135816102 |
| 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 |
|---|
| 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:135811735
|
T | C | 3 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | 22 | HG00741.hp1 HG00741.hp2 HG01106.hp1 others(19): Show |
3_prime_UTR_variant | MODIFIER | c.*439A>G | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 5/5 | 439 | chrX | 135811735 | |||||
| chrX:135812127
|
T | C | 1 | a0001c0001t0002 | 3 | HG01106.hp1 HG03516.hp2 NA19072.hp1 |
3_prime_UTR_variant | MODIFIER | c.*47A>G | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 5/5 | 47 | chrX | 135812127 | |||||
| chrX:135819793
|
C | CG | 1 | a0001c0001t0003 | 1 | HG02080.hp1 | 5_prime_UTR_variant | MODIFIER | c.-27dupC | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/5 | 3529 | chrX | 135819793 | |||||
| chrX:135819929
|
CA | C | 1 | a0001c0001t0003 | 1 | HG02080.hp1 | 5_prime_UTR_variant | MODIFIER | c.-163delT | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/5 | 3665 | chrX | 135819929 |
| 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:135812378
|
G | A | 18 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(15): Show | 22 | HG00741.hp1 HG00741.hp2 HG01106.hp1 others(19): Show |
intron_variant | MODIFIER | c.513-147C>T | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 4/4 | chrX | 135812378 | ||||||
| chrX:135812430
|
G | A | 7 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0017others(4): Show | 10 | HG01106.hp1 HG01175.hp2 HG02080.hp2 others(7): Show |
intron_variant | MODIFIER | c.513-199C>T | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 4/4 | chrX | 135812430 | ||||||
| chrX:135812564
|
G | C | 1 | a0001c0001t0001g0008 | 1 | HG01175.hp1 | intron_variant | MODIFIER | c.513-333C>G | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 4/4 | chrX | 135812564 | ||||||
| chrX:135812577
|
TC | T | 1 | a0001c0001t0001g0018 | 1 | NA18985.hp2 | intron_variant | MODIFIER | c.513-347delG | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 4/4 | chrX | 135812577 | ||||||
| chrX:135812681
|
C | T | 18 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(15): Show | 22 | HG00741.hp1 HG00741.hp2 HG01106.hp1 others(19): Show |
intron_variant | MODIFIER | c.513-450G>A | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 4/4 | chrX | 135812681 | ||||||
| chrX:135812990
|
C | T | 17 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(14): Show | 21 | HG00741.hp1 HG00741.hp2 HG01106.hp1 others(18): Show |
intron_variant | MODIFIER | c.512+464G>A | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 4/4 | chrX | 135812990 | ||||||
| chrX:135813042
|
TCC | T | 18 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(15): Show | 22 | HG00741.hp1 HG00741.hp2 HG01106.hp1 others(19): Show |
intron_variant | MODIFIER | c.512+410_512+411del others(2): Show |
CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 4/4 | chrX | 135813042 | ||||||
| chrX:135813046
|
C | T | 18 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(15): Show | 22 | HG00741.hp1 HG00741.hp2 HG01106.hp1 others(19): Show |
intron_variant | MODIFIER | c.512+408G>A | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 4/4 | chrX | 135813046 | ||||||
| chrX:135813097
|
T | C | 1 | a0001c0001t0001g0016 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.512+357A>G | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 4/4 | chrX | 135813097 | ||||||
| chrX:135813330
|
G | A | 18 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(15): Show | 22 | HG00741.hp1 HG00741.hp2 HG01106.hp1 others(19): Show |
intron_variant | MODIFIER | c.512+124C>T | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 4/4 | chrX | 135813330 | ||||||
| chrX:135813559
|
GA | G | 16 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(13): Show | 20 | HG00741.hp1 HG00741.hp2 HG01106.hp1 others(17): Show |
intron_variant | MODIFIER | c.419-13delT | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 3/4 | chrX | 135813559 | ||||||
| chrX:135813559
|
GAA | G | 2 | a0001c0001t0001g0017a0001c0001t0002g0014 | 2 | HG03516.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.419-14_419-13delTT | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 3/4 | chrX | 135813559 | ||||||
| chrX:135813693
|
TA | T | 1 | a0001c0001t0001g0018 | 1 | NA18985.hp2 | intron_variant | MODIFIER | c.419-147delT | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 3/4 | chrX | 135813693 | ||||||
| chrX:135814286
|
A | C | 1 | a0001c0001t0001g0005 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.170-110T>G | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 2/4 | chrX | 135814286 | ||||||
| chrX:135814363
|
A | C | 18 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(15): Show | 22 | HG00741.hp1 HG00741.hp2 HG01106.hp1 others(19): Show |
intron_variant | MODIFIER | c.170-187T>G | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 2/4 | chrX | 135814363 | ||||||
| chrX:135814556
|
CA | C | 1 | a0001c0001t0001g0018 | 1 | NA18985.hp2 | intron_variant | MODIFIER | c.170-381delT | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 2/4 | chrX | 135814556 | ||||||
| chrX:135814731
|
T | C | 18 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(15): Show | 22 | HG00741.hp1 HG00741.hp2 HG01106.hp1 others(19): Show |
intron_variant | MODIFIER | c.170-555A>G | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 2/4 | chrX | 135814731 | ||||||
| chrX:135814861
|
T | C | 18 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(15): Show | 22 | HG00741.hp1 HG00741.hp2 HG01106.hp1 others(19): Show |
intron_variant | MODIFIER | c.170-685A>G | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 2/4 | chrX | 135814861 | ||||||
| chrX:135814862
|
G | A | 18 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(15): Show | 22 | HG00741.hp1 HG00741.hp2 HG01106.hp1 others(19): Show |
intron_variant | MODIFIER | c.170-686C>T | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 2/4 | chrX | 135814862 | ||||||
| chrX:135815637
|
G | T | 10 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(7): Show | 11 | HG00741.hp1 HG00741.hp2 HG01175.hp1 others(8): Show |
intron_variant | MODIFIER | c.169+460C>A | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 2/4 | chrX | 135815637 | ||||||
| chrX:135815856
|
C | G | 1 | a0001c0001t0001g0005 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.169+241G>C | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 2/4 | chrX | 135815856 | ||||||
| chrX:135815906
|
T | TAA | 10 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(7): Show | 11 | HG00741.hp1 HG00741.hp2 HG01175.hp1 others(8): Show |
intron_variant | MODIFIER | c.169+189_169+190dup others(2): Show |
CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 2/4 | chrX | 135815906 | ||||||
| chrX:135815906
|
T | TAAA | 2 | a0001c0001t0001g0017a0001c0001t0002g0014 | 2 | HG03516.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.169+188_169+190dup others(3): Show |
CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 2/4 | chrX | 135815906 | ||||||
| chrX:135815906
|
T | TAAAA | 1 | a0001c0001t0001g0005 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.169+187_169+190dup others(4): Show |
CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 2/4 | chrX | 135815906 | ||||||
| chrX:135815968
|
A | G | 18 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(15): Show | 22 | HG00741.hp1 HG00741.hp2 HG01106.hp1 others(19): Show |
intron_variant | MODIFIER | c.169+129T>C | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 2/4 | chrX | 135815968 | ||||||
| chrX:135816077
|
G | A | 10 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(7): Show | 11 | HG00741.hp1 HG00741.hp2 HG01175.hp1 others(8): Show |
intron_variant | MODIFIER | c.169+20C>T | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 2/4 | chrX | 135816077 | ||||||
| chrX:135816086
|
G | A | 1 | a0001c0001t0001g0005 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.169+11C>T | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 2/4 | chrX | 135816086 | ||||||
| chrX:135816644
|
A | G | 1 | a0001c0001t0001g0005 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.-6-373T>C | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135816644 | ||||||
| chrX:135816723
|
C | T | 1 | a0001c0001t0002g0011 | 1 | HG01106.hp1 | intron_variant | MODIFIER | c.-6-452G>A | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135816723 | ||||||
| chrX:135816920
|
A | G | 1 | a0001c0001t0001g0016 | 1 | HG01261.hp1 | intron_variant | MODIFIER | c.-6-649T>C | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135816920 | ||||||
| chrX:135817009
|
T | TAAC | 3 | a0001c0001t0001g0017a0001c0001t0002g0011a0001c0001t0002g0015 | 3 | HG01106.hp1 HG03516.hp1 NA19072.hp1 |
intron_variant | MODIFIER | c.-6-741_-6-739dupGT others(1): Show |
CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135817009 | ||||||
| chrX:135817219
|
A | C | 18 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(15): Show | 22 | HG00741.hp1 HG00741.hp2 HG01106.hp1 others(19): Show |
intron_variant | MODIFIER | c.-6-948T>G | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135817219 | ||||||
| chrX:135817267
|
C | T | 18 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(15): Show | 22 | HG00741.hp1 HG00741.hp2 HG01106.hp1 others(19): Show |
intron_variant | MODIFIER | c.-6-996G>A | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135817267 | ||||||
| chrX:135817321
|
T | G | 15 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(12): Show | 19 | HG00741.hp1 HG00741.hp2 HG01175.hp1 others(16): Show |
intron_variant | MODIFIER | c.-6-1050A>C | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135817321 | ||||||
| chrX:135817539
|
A | G | 16 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(13): Show | 20 | HG00741.hp1 HG00741.hp2 HG01175.hp1 others(17): Show |
intron_variant | MODIFIER | c.-6-1268T>C | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135817539 | ||||||
| chrX:135817566
|
T | C | 1 | a0001c0001t0001g0005 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.-6-1295A>G | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135817566 | ||||||
| chrX:135817665
|
T | A | 18 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(15): Show | 22 | HG00741.hp1 HG00741.hp2 HG01106.hp1 others(19): Show |
intron_variant | MODIFIER | c.-6-1394A>T | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135817665 | ||||||
| chrX:135817669
|
T | C | 1 | a0001c0001t0001g0005 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.-6-1398A>G | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135817669 | ||||||
| chrX:135817671
|
T | G | 1 | a0001c0001t0001g0005 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.-6-1400A>C | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135817671 | ||||||
| chrX:135817688
|
A | ATTAC | 3 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0018 | 6 | HG01175.hp2 HG02080.hp2 HG02886.hp1 others(3): Show |
intron_variant | MODIFIER | c.-6-1418_-6-1417ins others(4): Show |
CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135817688 | ||||||
| chrX:135817688
|
A | ATTACT | 3 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0002g0014 | 3 | HG01261.hp1 HG03516.hp1 HG03516.hp2 |
intron_variant | MODIFIER | c.-6-1418_-6-1417ins others(5): Show |
CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135817688 | ||||||
| chrX:135817689
|
T | TTAC | 1 | a0001c0001t0002g0015 | 1 | NA19072.hp1 | intron_variant | MODIFIER | c.-6-1419_-6-1418ins others(3): Show |
CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135817689 | ||||||
| chrX:135817701
|
T | C | 1 | a0001c0001t0001g0005 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.-6-1430A>G | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135817701 | ||||||
| chrX:135817705
|
A | G | 7 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0016others(4): Show | 10 | HG01175.hp2 HG01261.hp1 HG02080.hp2 others(7): Show |
intron_variant | MODIFIER | c.-6-1434T>C | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135817705 | ||||||
| chrX:135817895
|
A | C | 8 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0008others(5): Show | 11 | HG01175.hp1 HG01175.hp2 HG01261.hp1 others(8): Show |
intron_variant | MODIFIER | c.-6-1624T>G | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135817895 | ||||||
| chrX:135818302
|
T | G | 5 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0018others(2): Show | 8 | HG00741.hp1 HG01175.hp2 HG02080.hp2 others(5): Show |
intron_variant | MODIFIER | c.-7+1472A>C | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135818302 | ||||||
| chrX:135818312
|
CTGTTCAT others(6): Show |
C | 1 | a0001c0001t0003g0003 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.-7+1449_-7+1461del others(13): Show |
CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135818312 | ||||||
| chrX:135818405
|
TA | T | 1 | a0001c0001t0003g0003 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.-7+1368delT | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135818405 | ||||||
| chrX:135818425
|
C | CG | 1 | a0001c0001t0003g0003 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.-7+1348dupC | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135818425 | ||||||
| chrX:135818460
|
A | C | 4 | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0002g0014others(1): Show | 7 | HG01175.hp2 HG02080.hp2 HG02886.hp1 others(4): Show |
intron_variant | MODIFIER | c.-7+1314T>G | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135818460 | ||||||
| chrX:135818471
|
A | T | 1 | a0001c0001t0003g0003 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.-7+1303T>A | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135818471 | ||||||
| chrX:135818568
|
TAAA | T | 17 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(14): Show | 21 | HG00741.hp1 HG00741.hp2 HG01106.hp1 others(18): Show |
intron_variant | MODIFIER | c.-7+1203_-7+1205del others(3): Show |
CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135818568 | ||||||
| chrX:135818572
|
A | T | 7 | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0016others(4): Show | 10 | HG01175.hp2 HG01261.hp1 HG02080.hp2 others(7): Show |
intron_variant | MODIFIER | c.-7+1202T>A | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135818572 | ||||||
| chrX:135818582
|
AAAAG | A | 1 | a0001c0001t0001g0013 | 1 | NA18747.hp1 | intron_variant | MODIFIER | c.-7+1188_-7+1191del others(4): Show |
CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135818582 | ||||||
| chrX:135818743
|
C | T | 12 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0005others(9): Show | 13 | HG00741.hp1 HG00741.hp2 HG01106.hp1 others(10): Show |
intron_variant | MODIFIER | c.-7+1031G>A | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135818743 | ||||||
| chrX:135818750
|
A | AG | 1 | a0001c0001t0003g0003 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.-7+1023dupC | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135818750 | ||||||
| chrX:135819024
|
C | T | 1 | a0001c0001t0001g0007 | 1 | HG00741.hp2 | intron_variant | MODIFIER | c.-7+750G>A | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135819024 | ||||||
| chrX:135819048
|
G | GA | 1 | a0001c0001t0003g0003 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.-7+725dupT | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135819048 | ||||||
| chrX:135819061
|
C | T | 18 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(15): Show | 22 | HG00741.hp1 HG00741.hp2 HG01106.hp1 others(19): Show |
intron_variant | MODIFIER | c.-7+713G>A | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135819061 | ||||||
| chrX:135819104
|
TA | T | 1 | a0001c0001t0003g0003 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.-7+669delT | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135819104 | ||||||
| chrX:135819148
|
CG | C | 1 | a0001c0001t0003g0003 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.-7+625delC | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135819148 | ||||||
| chrX:135819183
|
T | C | 1 | a0001c0001t0001g0005 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.-7+591A>G | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135819183 | ||||||
| chrX:135819252
|
TC | T | 1 | a0001c0001t0003g0003 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.-7+521delG | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135819252 | ||||||
| chrX:135819268
|
A | G | 1 | a0001c0001t0001g0006 | 1 | HG01358.hp1 | intron_variant | MODIFIER | c.-7+506T>C | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135819268 | ||||||
| chrX:135819356
|
A | T | 17 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(14): Show | 21 | HG00741.hp1 HG00741.hp2 HG01106.hp1 others(18): Show |
intron_variant | MODIFIER | c.-7+418T>A | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135819356 | ||||||
| chrX:135819406
|
A | AC | 1 | a0001c0001t0003g0003 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.-7+367dupG | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135819406 | ||||||
| chrX:135819518
|
C | G | 18 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(15): Show | 22 | HG00741.hp1 HG00741.hp2 HG01106.hp1 others(19): Show |
intron_variant | MODIFIER | c.-7+256G>C | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135819518 | ||||||
| chrX:135819598
|
A | G | 1 | a0001c0001t0001g0005 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.-7+176T>C | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135819598 | ||||||
| chrX:135819601
|
C | CA | 1 | a0001c0001t0003g0003 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.-7+172dupT | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135819601 | ||||||
| chrX:135819619
|
T | TC | 1 | a0001c0001t0003g0003 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.-7+154dupG | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135819619 | ||||||
| chrX:135819638
|
T | TC | 1 | a0001c0001t0003g0003 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.-7+135dupG | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135819638 | ||||||
| chrX:135819673
|
A | AC | 1 | a0001c0001t0003g0003 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.-7+100dupG | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135819673 | ||||||
| chrX:135819700
|
A | T | 1 | a0001c0001t0001g0005 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.-7+74T>A | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135819700 | ||||||
| chrX:135819701
|
A | G | 1 | a0001c0001t0001g0005 | 1 | NA19000.hp1 | intron_variant | MODIFIER | c.-7+73T>C | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135819701 | ||||||
| chrX:135819713
|
T | TC | 1 | a0001c0001t0003g0003 | 1 | HG02080.hp1 | intron_variant | MODIFIER | c.-7+60dupG | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135819713 | ||||||
| chrX:135819736
|
AG | A | 1 | a0001c0001t0001g0018 | 1 | NA18985.hp2 | intron_variant | MODIFIER | c.-7+37delC | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135819736 | ||||||
| chrX:135819739
|
GA | G | 1 | a0001c0001t0001g0004 | 1 | HG01255.hp1 | intron_variant | MODIFIER | c.-7+34delT | CT45A2 | ENSG00000271449.8 | transcript | ENST00000612907.2 | protein_coding | 1/4 | chrX | 135819739 |