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 |
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1 | X | 77243855 | C | T | ENST00000341514 | ENSG00000165240 | 77166194 | 77305892 | ENSP00000345728 | ATP7A | 1 | ATP7A_HUMAN | c.238C>T | p.P80S | non-syn | NA | - | - | lod=23:304 | TOLERATED | B | - | het | 1 |
2 | X | 77243855 | C | T | ENST00000343533 | ENSG00000165240 | 77166194 | 77305892 | ENSP00000343026 | ATP7A | 1 | ATP7A_HUMAN | c.238C>T | p.P80S | non-syn | NA | - | - | lod=23:304 | TOLERATED | B | - | het | 1 |
3 | X | 77243929 | A | G | ENST00000341514 | ENSG00000165240 | 77166194 | 77305892 | ENSP00000345728 | ATP7A | 1 | ATP7A_HUMAN | c.312A>G | p.Q104Q | syn | rs146414063 | - | G=2/A=6721;G=0/A=3835;G=2/A=10556 | lod=97:458 | - | - | - | het | 1 |
4 | X | 77243929 | A | G | ENST00000343533 | ENSG00000165240 | 77166194 | 77305892 | ENSP00000343026 | ATP7A | 1 | ATP7A_HUMAN | c.312A>G | p.Q104Q | syn | rs146414063 | - | G=2/A=6721;G=0/A=3835;G=2/A=10556 | lod=97:458 | - | - | - | het | 1 |
5 | X | 77243944 | G | A | ENST00000341514 | ENSG00000165240 | 77166194 | 77305892 | ENSP00000345728 | ATP7A | 1 | ATP7A_HUMAN | c.327G>A | p.K109K | syn | rs61747968 | 0.0048 | A=115/G=6608;A=3/G=3832;A=118/G=10440 | lod=97:458 | - | - | - | het | 10 |
6 | X | 77243944 | G | A | ENST00000341514 | ENSG00000165240 | 77166194 | 77305892 | ENSP00000345728 | ATP7A | 1 | ATP7A_HUMAN | c.327G>A | p.K109K | syn | rs61747968 | 0.0048 | A=115/G=6608;A=3/G=3832;A=118/G=10440 | lod=97:458 | - | - | - | hom | 9 |
7 | X | 77243944 | G | A | ENST00000343533 | ENSG00000165240 | 77166194 | 77305892 | ENSP00000343026 | ATP7A | 1 | ATP7A_HUMAN | c.327G>A | p.K109K | syn | rs61747968 | 0.0048 | A=115/G=6608;A=3/G=3832;A=118/G=10440 | lod=97:458 | - | - | - | het | 10 |
8 | X | 77243944 | G | A | ENST00000343533 | ENSG00000165240 | 77166194 | 77305892 | ENSP00000343026 | ATP7A | 1 | ATP7A_HUMAN | c.327G>A | p.K109K | syn | rs61747968 | 0.0048 | A=115/G=6608;A=3/G=3832;A=118/G=10440 | lod=97:458 | - | - | - | hom | 9 |
9 | X | 77244235 | G | A | ENST00000341514 | ENSG00000165240 | 77166194 | 77305892 | ENSP00000345728 | ATP7A | 1 | ATP7A_HUMAN | - | - | +8bp 5'_splice_site | rs144616937 | 0.01 | A=0/G=6721;A=44/G=3791;A=44/G=10512 | - | - | - | - | hom | 1 |
10 | X | 77244235 | G | A | ENST00000343533 | ENSG00000165240 | 77166194 | 77305892 | ENSP00000343026 | ATP7A | 1 | ATP7A_HUMAN | - | - | +8bp 5'_splice_site | rs144616937 | 0.01 | A=0/G=6721;A=44/G=3791;A=44/G=10512 | - | - | - | - | hom | 1 |
11 | X | 77245118 | G | A | ENST00000341514 | ENSG00000165240 | 77166194 | 77305892 | ENSP00000345728 | ATP7A | 1 | ATP7A_HUMAN | c.1000G>A | p.A334T | non-syn | NA | - | A=1/G=6722;A=0/G=3835;A=1/G=10557 | lod=82:440 | TOLERATED | B | - | hom | 1 |
12 | X | 77245118 | G | A | ENST00000343533 | ENSG00000165240 | 77166194 | 77305892 | ENSP00000343026 | ATP7A | 1 | ATP7A_HUMAN | c.1000G>A | p.A334T | non-syn | NA | - | A=1/G=6722;A=0/G=3835;A=1/G=10557 | lod=82:440 | TOLERATED | B | - | hom | 1 |
13 | X | 77245127 | G | A | ENST00000341514 | ENSG00000165240 | 77166194 | 77305892 | ENSP00000345728 | ATP7A | 1 | ATP7A_HUMAN | c.1009G>A | p.A337T | non-syn | rs138039591 | - | A=3/G=6720;A=0/G=3835;A=3/G=10555 | lod=82:440 | TOLERATED | B | - | het | 2 |
14 | X | 77245127 | G | A | ENST00000343533 | ENSG00000165240 | 77166194 | 77305892 | ENSP00000343026 | ATP7A | 1 | ATP7A_HUMAN | c.1009G>A | p.A337T | non-syn | rs138039591 | - | A=3/G=6720;A=0/G=3835;A=3/G=10555 | lod=82:440 | TOLERATED | B | - | het | 2 |
15 | X | 77258581 | A | G | ENST00000341514 | ENSG00000165240 | 77166194 | 77305892 | ENSP00000345728 | ATP7A | 1 | ATP7A_HUMAN | c.1555A>G | p.I519V | non-syn | NA | - | - | lod=279:571 | TOLERATED | B | - | hom | 1 |
16 | X | 77258581 | A | G | ENST00000343533 | ENSG00000165240 | 77166194 | 77305892 | ENSP00000343026 | ATP7A | 1 | ATP7A_HUMAN | c.1555A>G | p.I519V | non-syn | NA | - | - | lod=279:571 | TOLERATED | B | - | hom | 1 |
17 | X | 77264659 | A | G | ENST00000341514 | ENSG00000165240 | 77166194 | 77305892 | ENSP00000345728 | ATP7A | 1 | ATP7A_HUMAN | c.1768A>G | p.R590G | non-syn | rs146887876 | 0.0046 | G=0/A=6723;G=14/A=3821;G=14/A=10544 | lod=466:626 | TOLERATED | P | - | het | 1 |
18 | X | 77264659 | A | G | ENST00000343533 | ENSG00000165240 | 77166194 | 77305892 | ENSP00000343026 | ATP7A | 1 | ATP7A_HUMAN | c.1768A>G | p.R590G | non-syn | rs146887876 | 0.0046 | G=0/A=6723;G=14/A=3821;G=14/A=10544 | lod=466:626 | TOLERATED | P | - | het | 1 |
19 | X | 77264714 | A | G | ENST00000341514 | ENSG00000165240 | 77166194 | 77305892 | ENSP00000345728 | ATP7A | 1 | ATP7A_HUMAN | c.1823A>G | p.Y608C | non-syn | rs61742278 | 0.0164 | G=0/A=6723;G=44/A=3791;G=44/A=10514 | lod=466:626 | DAMAGING | D | - | het | 2 |
20 | X | 77264714 | A | G | ENST00000343533 | ENSG00000165240 | 77166194 | 77305892 | ENSP00000343026 | ATP7A | 1 | ATP7A_HUMAN | c.1823A>G | p.Y608C | non-syn | rs61742278 | 0.0164 | G=0/A=6723;G=44/A=3791;G=44/A=10514 | lod=466:626 | DAMAGING | D | - | het | 2 |