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 | X | 49061669 | G | A | ENST00000323022 | ENSG00000102001 | 49061523 | 49089833 | ENSP00000321618 | CACNA1F | -1 | CAC1F_HUMAN | c.5829C>T | p.D1943D | syn | rs138189763 | 0.0033 | A=35/G=6693;A=2/G=3833;A=37/G=10526 | lod=21:295 | - | - | - | het | 7 |
2 | X | 49061669 | G | A | ENST00000376251 | ENSG00000102001 | 49061523 | 49089833 | ENSP00000365427 | CACNA1F | -1 | CAC1F_HUMAN | c.5667C>T | p.D1889D | syn | rs138189763 | 0.0033 | A=35/G=6693;A=2/G=3833;A=37/G=10526 | lod=21:295 | - | - | - | het | 7 |
3 | X | 49061669 | G | A | ENST00000376265 | ENSG00000102001 | 49061523 | 49089833 | ENSP00000365441 | CACNA1F | -1 | CAC1F_HUMAN | c.5862C>T | p.D1954D | syn | rs138189763 | 0.0033 | A=35/G=6693;A=2/G=3833;A=37/G=10526 | lod=21:295 | - | - | - | het | 7 |
4 | X | 49061718 | T | C | ENST00000323022 | ENSG00000102001 | 49061523 | 49089833 | ENSP00000321618 | CACNA1F | -1 | CAC1F_HUMAN | c.5780A>G | p.N1927S | non-syn | NA | - | - | lod=218:545 | TOLERATED | B | - | het | 1 |
5 | X | 49061718 | T | C | ENST00000376251 | ENSG00000102001 | 49061523 | 49089833 | ENSP00000365427 | CACNA1F | -1 | CAC1F_HUMAN | c.5618A>G | p.N1873S | non-syn | NA | - | - | lod=218:545 | TOLERATED | B | - | het | 1 |
6 | X | 49061718 | T | C | ENST00000376265 | ENSG00000102001 | 49061523 | 49089833 | ENSP00000365441 | CACNA1F | -1 | CAC1F_HUMAN | c.5813A>G | p.N1938S | non-syn | NA | - | - | lod=218:545 | TOLERATED | B | - | het | 1 |
7 | X | 49061742 | C | T | ENST00000323022 | ENSG00000102001 | 49061523 | 49089833 | ENSP00000321618 | CACNA1F | -1 | CAC1F_HUMAN | c.5756G>A | p.R1919H | non-syn | rs33910054 | 0.1164 | T=569/C=6159;T=82/C=3753;T=651/C=9912 | lod=80:437 | TOLERATED | B | - | het | 61 |
8 | X | 49061742 | C | T | ENST00000323022 | ENSG00000102001 | 49061523 | 49089833 | ENSP00000321618 | CACNA1F | -1 | CAC1F_HUMAN | c.5756G>A | p.R1919H | non-syn | rs33910054 | 0.1164 | T=569/C=6159;T=82/C=3753;T=651/C=9912 | lod=80:437 | TOLERATED | B | - | hom | 35 |
9 | X | 49061742 | C | T | ENST00000376251 | ENSG00000102001 | 49061523 | 49089833 | ENSP00000365427 | CACNA1F | -1 | CAC1F_HUMAN | c.5594G>A | p.R1865H | non-syn | rs33910054 | 0.1164 | T=569/C=6159;T=82/C=3753;T=651/C=9912 | lod=80:437 | TOLERATED | B | - | het | 61 |
10 | X | 49061742 | C | T | ENST00000376251 | ENSG00000102001 | 49061523 | 49089833 | ENSP00000365427 | CACNA1F | -1 | CAC1F_HUMAN | c.5594G>A | p.R1865H | non-syn | rs33910054 | 0.1164 | T=569/C=6159;T=82/C=3753;T=651/C=9912 | lod=80:437 | TOLERATED | B | - | hom | 35 |
11 | X | 49061742 | C | T | ENST00000376265 | ENSG00000102001 | 49061523 | 49089833 | ENSP00000365441 | CACNA1F | -1 | CAC1F_HUMAN | c.5789G>A | p.R1930H | non-syn | rs33910054 | 0.1164 | T=569/C=6159;T=82/C=3753;T=651/C=9912 | lod=80:437 | TOLERATED | B | - | het | 61 |
12 | X | 49061742 | C | T | ENST00000376265 | ENSG00000102001 | 49061523 | 49089833 | ENSP00000365441 | CACNA1F | -1 | CAC1F_HUMAN | c.5789G>A | p.R1930H | non-syn | rs33910054 | 0.1164 | T=569/C=6159;T=82/C=3753;T=651/C=9912 | lod=80:437 | TOLERATED | B | - | hom | 35 |
13 | X | 49061795 | A | G | ENST00000323022 | ENSG00000102001 | 49061523 | 49089833 | ENSP00000321618 | CACNA1F | -1 | CAC1F_HUMAN | c.5703T>C | p.A1901A | syn | NA | - | - | lod=132:491 | - | - | - | het | 1 |
14 | X | 49061795 | A | G | ENST00000376251 | ENSG00000102001 | 49061523 | 49089833 | ENSP00000365427 | CACNA1F | -1 | CAC1F_HUMAN | c.5541T>C | p.A1847A | syn | NA | - | - | lod=132:491 | - | - | - | het | 1 |
15 | X | 49061795 | A | G | ENST00000376265 | ENSG00000102001 | 49061523 | 49089833 | ENSP00000365441 | CACNA1F | -1 | CAC1F_HUMAN | c.5736T>C | p.A1912A | syn | NA | - | - | lod=132:491 | - | - | - | het | 1 |
16 | X | 49062170 | C | T | ENST00000323022 | ENSG00000102001 | 49061523 | 49089833 | ENSP00000321618 | CACNA1F | -1 | CAC1F_HUMAN | c.5576G>A | p.G1859D | non-syn | NA | - | - | - | TOLERATED | D | - | hom | 1 |
17 | X | 49062170 | C | T | ENST00000376251 | ENSG00000102001 | 49061523 | 49089833 | ENSP00000365427 | CACNA1F | -1 | CAC1F_HUMAN | c.5414G>A | p.G1805D | non-syn | NA | - | - | - | TOLERATED | D | - | hom | 1 |
18 | X | 49062170 | C | T | ENST00000376265 | ENSG00000102001 | 49061523 | 49089833 | ENSP00000365441 | CACNA1F | -1 | CAC1F_HUMAN | c.5609G>A | p.G1870D | non-syn | NA | - | - | - | TOLERATED | D | - | hom | 1 |
19 | X | 49063300 | C | T | ENST00000323022 | ENSG00000102001 | 49061523 | 49089833 | ENSP00000321618 | CACNA1F | -1 | CAC1F_HUMAN | c.5248G>A | p.E1750K | non-syn | NA | - | - | lod=14:251 | DAMAGING | P | - | het | 1 |
20 | X | 49063300 | C | T | ENST00000323022 | ENSG00000102001 | 49061523 | 49089833 | ENSP00000321618 | CACNA1F | -1 | CAC1F_HUMAN | c.5248G>A | p.E1750K | non-syn | NA | - | - | lod=14:251 | DAMAGING | P | - | hom | 1 |