| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.51949700C>A | CA388033415 | ATP7B | c.*660G>T (n.*660G>T) c.*1571G>T (n.*1571G>T) c.2244+307G>T (n.2244+307G>T) c.2827G>T (p.Gly943Cys) c.2494G>T (p.Gly832Cys) c.2575G>T (p.Gly859Cys) c.2593G>T (p.Gly865Cys) n.7G>T c.1800+307G>T (n.1800+307G>T) c.1537G>T (p.Gly513Cys) c.788G>T n.3609+16G>T n.2172G>T c.2683G>T (p.Gly895Cys) n.212-3222G>T c.2731G>T (p.Gly911Cys) c.2791G>T (p.Gly931Cys) c.2341G>T (p.Gly781Cys) c.643G>T (p.Gly215Cys) c.2730+307G>T (n.2730+307G>T) c.2413G>T (p.Gly805Cys) c.1495G>T (p.Gly499Cys) n.3046G>T | ClinVar dbSNP gnomAD v4 |
| 13 | g.51949700C>T | CA252894 | ATP7B | c.*660G>A (n.*660G>A) c.*1571G>A (n.*1571G>A) c.2244+307G>A (n.2244+307G>A) c.2827G>A (p.Gly943Ser) c.2494G>A (p.Gly832Ser) c.2575G>A (p.Gly859Ser) c.2593G>A (p.Gly865Ser) n.7G>A c.1800+307G>A (n.1800+307G>A) c.1537G>A (p.Gly513Ser) c.788G>A n.3609+16G>A n.2172G>A c.2683G>A (p.Gly895Ser) n.212-3222G>A c.2731G>A (p.Gly911Ser) c.2791G>A (p.Gly931Ser) c.2341G>A (p.Gly781Ser) c.643G>A (p.Gly215Ser) c.2730+307G>A (n.2730+307G>A) c.2413G>A (p.Gly805Ser) c.1495G>A (p.Gly499Ser) n.3046G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 13 | g.51949700C>G | CA388033418 | ATP7B | c.*660G>C (n.*660G>C) c.*1571G>C (n.*1571G>C) c.2244+307G>C (n.2244+307G>C) c.2827G>C (p.Gly943Arg) c.2494G>C (p.Gly832Arg) c.2575G>C (p.Gly859Arg) c.2593G>C (p.Gly865Arg) n.7G>C c.1800+307G>C (n.1800+307G>C) c.1537G>C (p.Gly513Arg) c.788G>C n.3609+16G>C n.2172G>C c.2683G>C (p.Gly895Arg) n.212-3222G>C c.2731G>C (p.Gly911Arg) c.2791G>C (p.Gly931Arg) c.2341G>C (p.Gly781Arg) c.643G>C (p.Gly215Arg) c.2730+307G>C (n.2730+307G>C) c.2413G>C (p.Gly805Arg) c.1495G>C (p.Gly499Arg) n.3046G>C | dbSNP gnomAD v4 |