| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 13 | g.51975117T>C | CA388045326 | ATP7B | c.103A>G (p.Lys35Glu) n.433A>G n.208A>G n.224A>G n.212-28639A>G c.7A>G (p.Lys3Glu) c.67A>G (p.Lys23Glu) n.322A>G | dbSNP gnomAD v2 gnomAD v4 |
| 13 | g.51975117T>A | CA16041683 | ATP7B | c.103A>T (p.Lys35Ter) n.433A>T n.208A>T n.224A>T n.212-28639A>T c.7A>T (p.Lys3Ter) c.67A>T (p.Lys23Ter) n.322A>T | ClinVar dbSNP gnomAD v4 |