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 | 12 | 53701241 | G | A | ENST00000209873 | ENSG00000094914 | 53701240 | 53718648 | ENSP00000209873 | AAAS | -1 | AAAS_HUMAN | - | - | 3'_UTR | rs138994144 | 0.0011 | A=0/G=8584;A=53/G=4341;A=53/G=12925 | - | - | - | - | het | 2 |
2 | 12 | 53701241 | G | A | ENST00000552876 | ENSG00000094914 | 53701240 | 53718648 | - | AAAS | -1 | - | c.2016C>T | p.L672L | syn | rs138994144 | 0.0011 | A=0/G=8584;A=53/G=4341;A=53/G=12925 | - | - | - | - | het | 2 |
3 | 12 | 53701262 | C | -T | ENST00000209873 | ENSG00000094914 | 53701240 | 53718648 | ENSP00000209873 | AAAS | -1 | AAAS_HUMAN | - | - | 3'_UTR | NA | - | - | - | - | - | - | het | 1 |
4 | 12 | 53701262 | C | -T | ENST00000394384 | ENSG00000094914 | 53701240 | 53718648 | ENSP00000377908 | AAAS | -1 | AAAS_HUMAN | - | - | 3'_UTR | NA | - | - | - | - | - | - | het | 1 |
5 | 12 | 53701262 | C | -T | ENST00000550286 | ENSG00000094914 | 53701240 | 53718648 | ENSP00000446885 | AAAS | -1 | - | - | - | 3'_UTR | NA | - | - | - | - | - | - | het | 1 |
6 | 12 | 53701262 | C | -T | ENST00000552876 | ENSG00000094914 | 53701240 | 53718648 | - | AAAS | -1 | - | c.1994_1994del | p.K665NA | non-syn | NA | - | - | - | - | - | - | het | 1 |
7 | 12 | 53701357 | A | G | ENST00000209873 | ENSG00000094914 | 53701240 | 53718648 | ENSP00000209873 | AAAS | -1 | AAAS_HUMAN | c.1557T>C | p.T519T | syn | rs112987708 | 0.0943 | G=0/A=8600;G=330/A=4076;G=330/A=12676 | lod=52:391 | - | - | - | het | 8 |
8 | 12 | 53701357 | A | G | ENST00000394384 | ENSG00000094914 | 53701240 | 53718648 | ENSP00000377908 | AAAS | -1 | AAAS_HUMAN | c.1458T>C | p.T486T | syn | rs112987708 | 0.0943 | G=0/A=8600;G=330/A=4076;G=330/A=12676 | lod=52:391 | - | - | - | het | 8 |
9 | 12 | 53701357 | A | G | ENST00000548931 | ENSG00000094914 | 53701240 | 53718648 | ENSP00000457518 | AAAS | -1 | - | c.992T>C | p.L331P | non-syn | rs112987708 | 0.0943 | G=0/A=8600;G=330/A=4076;G=330/A=12676 | lod=52:391 | - | - | - | het | 8 |
10 | 12 | 53701357 | A | G | ENST00000550286 | ENSG00000094914 | 53701240 | 53718648 | ENSP00000446885 | AAAS | -1 | - | c.1185T>C | p.T395T | syn | rs112987708 | 0.0943 | G=0/A=8600;G=330/A=4076;G=330/A=12676 | lod=52:391 | - | - | - | het | 8 |
11 | 12 | 53701357 | A | G | ENST00000552876 | ENSG00000094914 | 53701240 | 53718648 | - | AAAS | -1 | - | c.1900T>C | p.*634R | non-syn | rs112987708 | 0.0943 | G=0/A=8600;G=330/A=4076;G=330/A=12676 | lod=52:391 | - | - | - | het | 8 |
12 | 12 | 53702058 | C | T | ENST00000209873 | ENSG00000094914 | 53701240 | 53718648 | ENSP00000209873 | AAAS | -1 | AAAS_HUMAN | - | - | +8bp 5'_splice_site | rs200834285 | - | T=0/C=8600;T=29/C=4377;T=29/C=12977 | - | - | - | - | het | 4 |
13 | 12 | 53702058 | C | T | ENST00000394384 | ENSG00000094914 | 53701240 | 53718648 | ENSP00000377908 | AAAS | -1 | AAAS_HUMAN | - | - | +8bp 5'_splice_site | rs200834285 | - | T=0/C=8600;T=29/C=4377;T=29/C=12977 | - | - | - | - | het | 4 |
14 | 12 | 53702058 | C | T | ENST00000548931 | ENSG00000094914 | 53701240 | 53718648 | ENSP00000457518 | AAAS | -1 | - | - | - | +8bp 5'_splice_site | rs200834285 | - | T=0/C=8600;T=29/C=4377;T=29/C=12977 | - | - | - | - | het | 4 |
15 | 12 | 53702058 | C | T | ENST00000550033 | ENSG00000094914 | 53701240 | 53718648 | - | AAAS | -1 | - | - | - | +8bp 5'_splice_site | rs200834285 | - | T=0/C=8600;T=29/C=4377;T=29/C=12977 | - | - | - | - | het | 4 |
16 | 12 | 53702058 | C | T | ENST00000550286 | ENSG00000094914 | 53701240 | 53718648 | ENSP00000446885 | AAAS | -1 | - | - | - | +8bp 5'_splice_site | rs200834285 | - | T=0/C=8600;T=29/C=4377;T=29/C=12977 | - | - | - | - | het | 4 |
17 | 12 | 53702058 | C | T | ENST00000552876 | ENSG00000094914 | 53701240 | 53718648 | - | AAAS | -1 | - | - | - | +8bp 5'_splice_site | rs200834285 | - | T=0/C=8600;T=29/C=4377;T=29/C=12977 | - | - | - | - | het | 4 |
18 | 12 | 53702071 | A | G | ENST00000209873 | ENSG00000094914 | 53701240 | 53718648 | ENSP00000209873 | AAAS | -1 | AAAS_HUMAN | c.1244T>C | p.M415T | non-syn | rs200871966 | - | G=0/A=8600;G=2/A=4404;G=2/A=13004 | lod=325:587 | DAMAGING | D | - | het | 1 |
19 | 12 | 53702071 | A | G | ENST00000394384 | ENSG00000094914 | 53701240 | 53718648 | ENSP00000377908 | AAAS | -1 | AAAS_HUMAN | c.1145T>C | p.M382T | non-syn | rs200871966 | - | G=0/A=8600;G=2/A=4404;G=2/A=13004 | lod=325:587 | DAMAGING | D | - | het | 1 |
20 | 12 | 53702071 | A | G | ENST00000548931 | ENSG00000094914 | 53701240 | 53718648 | ENSP00000457518 | AAAS | -1 | - | c.764T>C | p.M255T | non-syn | rs200871966 | - | G=0/A=8600;G=2/A=4404;G=2/A=13004 | lod=325:587 | DAMAGING | D | - | het | 1 |