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 | 8 | 145150101 | T | G | ENST00000318911 | ENSG00000179091 | 145149930 | 145152428 | ENSP00000317159 | CYC1 | 1 | CY1_HUMAN | c.99T>G | p.R33R | syn | rs11541475 | 0.939 | - | lod=38:358 | - | - | - | hom | 503 |
2 | 8 | 145150101 | T | G | ENST00000318911 | ENSG00000179091 | 145149930 | 145152428 | ENSP00000317159 | CYC1 | 1 | CY1_HUMAN | c.99T>G | p.R33R | syn | rs11541475 | 0.939 | - | lod=38:358 | - | - | - | het | 107 |
3 | 8 | 145150101 | T | G | ENST00000533444 | ENSG00000179091 | 145149930 | 145152428 | - | CYC1 | 1 | - | c.160T>G | p.S54A | non-syn | rs11541475 | 0.939 | - | lod=38:358 | - | - | - | hom | 503 |
4 | 8 | 145150101 | T | G | ENST00000533444 | ENSG00000179091 | 145149930 | 145152428 | - | CYC1 | 1 | - | c.160T>G | p.S54A | non-syn | rs11541475 | 0.939 | - | lod=38:358 | - | - | - | het | 107 |
5 | 8 | 145150651 | C | G | ENST00000528618 | ENSG00000179091 | 145149930 | 145152428 | - | CYC1 | 1 | - | c.263C>G | p.A88G | non-syn | rs140130660 | 0.0022 | - | - | - | - | - | het | 2 |
6 | 8 | 145150651 | C | G | ENST00000533444 | ENSG00000179091 | 145149930 | 145152428 | - | CYC1 | 1 | - | c.710C>G | p.A237G | non-syn | rs140130660 | 0.0022 | - | - | - | - | - | het | 2 |
7 | 8 | 145150795 | G | A | ENST00000318911 | ENSG00000179091 | 145149930 | 145152428 | ENSP00000317159 | CYC1 | 1 | CY1_HUMAN | c.189G>A | p.A63A | syn | rs146030978 | - | A=0/G=8600;A=2/G=4404;A=2/G=13004 | lod=193:532 | - | - | - | het | 1 |
8 | 8 | 145150795 | G | A | ENST00000528618 | ENSG00000179091 | 145149930 | 145152428 | - | CYC1 | 1 | - | c.407G>A | p.R136H | non-syn | rs146030978 | - | A=0/G=8600;A=2/G=4404;A=2/G=13004 | lod=193:532 | - | - | - | het | 1 |
9 | 8 | 145150795 | G | A | ENST00000533444 | ENSG00000179091 | 145149930 | 145152428 | - | CYC1 | 1 | - | c.854G>A | p.R285H | non-syn | rs146030978 | - | A=0/G=8600;A=2/G=4404;A=2/G=13004 | lod=193:532 | - | - | - | het | 1 |
10 | 8 | 145150832 | A | G | ENST00000318911 | ENSG00000179091 | 145149930 | 145152428 | ENSP00000317159 | CYC1 | 1 | CY1_HUMAN | c.226A>G | p.M76V | non-syn | rs7820984 | 1 | G=8589/A=9;G=3830/A=574;G=12419/A=583 | lod=49:385 | TOLERATED | NA | - | het | 7 |
11 | 8 | 145150832 | A | G | ENST00000318911 | ENSG00000179091 | 145149930 | 145152428 | ENSP00000317159 | CYC1 | 1 | CY1_HUMAN | c.226A>G | p.M76V | non-syn | rs7820984 | 1 | G=8589/A=9;G=3830/A=574;G=12419/A=583 | lod=49:385 | TOLERATED | NA | - | hom | 1009 |
12 | 8 | 145150832 | A | G | ENST00000528618 | ENSG00000179091 | 145149930 | 145152428 | - | CYC1 | 1 | - | c.444A>G | p.P148P | syn | rs7820984 | 1 | G=8589/A=9;G=3830/A=574;G=12419/A=583 | lod=49:385 | TOLERATED | NA | - | het | 7 |
13 | 8 | 145150832 | A | G | ENST00000528618 | ENSG00000179091 | 145149930 | 145152428 | - | CYC1 | 1 | - | c.444A>G | p.P148P | syn | rs7820984 | 1 | G=8589/A=9;G=3830/A=574;G=12419/A=583 | lod=49:385 | TOLERATED | NA | - | hom | 1009 |
14 | 8 | 145150832 | A | G | ENST00000533444 | ENSG00000179091 | 145149930 | 145152428 | - | CYC1 | 1 | - | c.891A>G | p.P297P | syn | rs7820984 | 1 | G=8589/A=9;G=3830/A=574;G=12419/A=583 | lod=49:385 | TOLERATED | NA | - | het | 7 |
15 | 8 | 145150832 | A | G | ENST00000533444 | ENSG00000179091 | 145149930 | 145152428 | - | CYC1 | 1 | - | c.891A>G | p.P297P | syn | rs7820984 | 1 | G=8589/A=9;G=3830/A=574;G=12419/A=583 | lod=49:385 | TOLERATED | NA | - | hom | 1009 |
16 | 8 | 145150864 | C | T | ENST00000318911 | ENSG00000179091 | 145149930 | 145152428 | ENSP00000317159 | CYC1 | 1 | CY1_HUMAN | c.258C>T | p.D86D | syn | rs200527190 | - | - | lod=296:577 | - | - | - | het | 1 |
17 | 8 | 145150864 | C | T | ENST00000528618 | ENSG00000179091 | 145149930 | 145152428 | - | CYC1 | 1 | - | c.476C>T | p.T159I | non-syn | rs200527190 | - | - | lod=296:577 | - | - | - | het | 1 |
18 | 8 | 145150864 | C | T | ENST00000533444 | ENSG00000179091 | 145149930 | 145152428 | - | CYC1 | 1 | - | c.923C>T | p.T308I | non-syn | rs200527190 | - | - | lod=296:577 | - | - | - | het | 1 |
19 | 8 | 145150865 | C | T | ENST00000318911 | ENSG00000179091 | 145149930 | 145152428 | ENSP00000317159 | CYC1 | 1 | CY1_HUMAN | c.259C>T | p.L87L | syn | rs2230226 | 0.0012 | G=1/C=8599;G=0/C=4406;G=1/C=13005 | lod=296:577 | - | - | - | het | 1 |
20 | 8 | 145150865 | C | T | ENST00000528618 | ENSG00000179091 | 145149930 | 145152428 | - | CYC1 | 1 | - | c.477C>T | p.T159T | syn | rs2230226 | 0.0012 | G=1/C=8599;G=0/C=4406;G=1/C=13005 | lod=296:577 | - | - | - | het | 1 |