No. | Chr | Position | Reference | Variant | EnsemblTranscriptID | EnsemblGeneID | Gene_Start | Gene_End | EnsemblProteinID | Gene | strand | Uniprot | cChange | pChange | Nature | dbSNP | Freq | EVS | phastCons | SIFT | Polyphen | HGMD | type | samples |
---|
1 | 11 | 22214765 | G | C | ENST00000324559 | ENSG00000171714 | 22214722 | 22304903 | ENSP00000315371 | ANO5 | 1 | ANO5_HUMAN | - | - | 5'_UTR | NA | - | - | - | - | - | - | het | 1 |
2 | 11 | 22214822 | G | T | ENST00000324559 | ENSG00000171714 | 22214722 | 22304903 | ENSP00000315371 | ANO5 | 1 | ANO5_HUMAN | - | - | 5'_UTR | rs73479393 | 0.2123 | - | - | - | - | - | hom | 2 |
3 | 11 | 22214822 | G | T | ENST00000324559 | ENSG00000171714 | 22214722 | 22304903 | ENSP00000315371 | ANO5 | 1 | ANO5_HUMAN | - | - | 5'_UTR | rs73479393 | 0.2123 | - | - | - | - | - | het | 8 |
4 | 11 | 22214829 | G | C | ENST00000324559 | ENSG00000171714 | 22214722 | 22304903 | ENSP00000315371 | ANO5 | 1 | ANO5_HUMAN | - | - | 5'_UTR | rs181864243 | 0.0013 | - | - | - | - | - | hom | 1 |
5 | 11 | 22214877 | A | +AGGAGGAGGGGAATGAGGAGGAGG | ENST00000324559 | ENSG00000171714 | 22214722 | 22304903 | ENSP00000315371 | ANO5 | 1 | ANO5_HUMAN | - | - | 5'_UTR | rs139514865 | - | - | - | - | - | - | het | 4 |
6 | 11 | 22214903 | G | C | ENST00000324559 | ENSG00000171714 | 22214722 | 22304903 | ENSP00000315371 | ANO5 | 1 | ANO5_HUMAN | - | - | 5'_UTR | rs12792259 | 0.7388 | - | - | - | - | - | het | 193 |
7 | 11 | 22214903 | G | C | ENST00000324559 | ENSG00000171714 | 22214722 | 22304903 | ENSP00000315371 | ANO5 | 1 | ANO5_HUMAN | - | - | 5'_UTR | rs12792259 | 0.7388 | - | - | - | - | - | hom | 459 |
8 | 11 | 22239808 | A | G | ENST00000324559 | ENSG00000171714 | 22214722 | 22304903 | ENSP00000315371 | ANO5 | 1 | ANO5_HUMAN | c.155A>G | p.N52S | non-syn | rs143777403 | 0.00094 | G=31/A=8569;G=2/A=4404;G=33/A=12973 | lod=210:541 | TOLERATED | D | - | het | 4 |
9 | 11 | 22242646 | C | +A | ENST00000324559 | ENSG00000171714 | 22214722 | 22304903 | ENSP00000315371 | ANO5 | 1 | ANO5_HUMAN | c.184_185insA | p.Q62NA | non-syn | NA | - | - | lod=56:399 | - | - | - | het | 1 |
10 | 11 | 22242721 | G | A | ENST00000324559 | ENSG00000171714 | 22214722 | 22304903 | ENSP00000315371 | ANO5 | 1 | ANO5_HUMAN | c.259G>A | p.V87I | non-syn | rs34994927 | 0.0057 | A=2/G=8596;A=37/G=4369;A=39/G=12965 | lod=121:482 | TOLERATED | B | - | het | 2 |
11 | 11 | 22242729 | T | C | ENST00000324559 | ENSG00000171714 | 22214722 | 22304903 | ENSP00000315371 | ANO5 | 1 | ANO5_HUMAN | c.267T>C | p.D89D | syn | rs4312063 | 0.76276 | C=6875/T=1723;C=4106/T=300;C=10981/T=2023 | - | - | - | - | het | 323 |
12 | 11 | 22242729 | T | C | ENST00000324559 | ENSG00000171714 | 22214722 | 22304903 | ENSP00000315371 | ANO5 | 1 | ANO5_HUMAN | c.267T>C | p.D89D | syn | rs4312063 | 0.76276 | C=6875/T=1723;C=4106/T=300;C=10981/T=2023 | - | - | - | - | hom | 659 |
13 | 11 | 22242741 | C | T | ENST00000324559 | ENSG00000171714 | 22214722 | 22304903 | ENSP00000315371 | ANO5 | 1 | ANO5_HUMAN | c.279C>T | p.D93D | syn | rs148516756 | - | T=2/C=8596;T=0/C=4406;T=2/C=13002 | - | - | - | - | het | 1 |
14 | 11 | 22247513 | A | +T | ENST00000324559 | ENSG00000171714 | 22214722 | 22304903 | ENSP00000315371 | ANO5 | 1 | ANO5_HUMAN | - | - | -17bp 3'_splice_site | NA | - | - | - | - | - | - | het | 3 |
15 | 11 | 22248832 | C | -T | ENST00000324559 | ENSG00000171714 | 22214722 | 22304903 | ENSP00000315371 | ANO5 | 1 | ANO5_HUMAN | - | - | -15bp 3'_splice_site | rs146983312 | - | - | - | - | - | - | hom | 5 |
16 | 11 | 22248832 | C | -T | ENST00000324559 | ENSG00000171714 | 22214722 | 22304903 | ENSP00000315371 | ANO5 | 1 | ANO5_HUMAN | - | - | -15bp 3'_splice_site | rs146983312 | - | - | - | - | - | - | het | 40 |
17 | 11 | 22249088 | G | A | ENST00000324559 | ENSG00000171714 | 22214722 | 22304903 | ENSP00000315371 | ANO5 | 1 | ANO5_HUMAN | c.604G>A | p.E202K | non-syn | rs115750596 | 0.0193 | A=3/G=8597;A=150/G=4256;A=153/G=12853 | lod=260:563 | TOLERATED | B | - | het | 4 |
18 | 11 | 22257740 | G | C | ENST00000324559 | ENSG00000171714 | 22214722 | 22304903 | ENSP00000315371 | ANO5 | 1 | ANO5_HUMAN | c.680G>C | p.G227A | non-syn | rs140903276 | 0.0056 | C=0/G=8600;C=38/G=4368;C=38/G=12968 | lod=67:419 | TOLERATED | B | - | het | 2 |
19 | 11 | 22257752 | G | T | ENST00000324559 | ENSG00000171714 | 22214722 | 22304903 | ENSP00000315371 | ANO5 | 1 | ANO5_HUMAN | c.692G>T | p.G231V | non-syn | rs137854523 | 0.0014 | T=10/G=8590;T=1/G=4405;T=11/G=12995 | lod=160:512 | DAMAGING | P | HGMD | het | 1 |
20 | 11 | 22261152 | C | G | ENST00000324559 | ENSG00000171714 | 22214722 | 22304903 | ENSP00000315371 | ANO5 | 1 | ANO5_HUMAN | c.800C>G | p.T267S | non-syn | rs138144479 | 0.0102 | G=0/C=8600;G=91/C=4315;G=91/C=12915 | lod=39:361 | TOLERATED | B | - | het | 1 |