| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.130980606A>G | CA16617827 | ATP2C1 | c.1766A>G (p.Lys589Arg) c.1751A>G (p.Lys584Arg) c.631+5118A>G (n.631+5118A>G) c.1627A>G c.1718A>G (p.Lys573Arg) c.1868A>G (p.Lys623Arg) c.319A>G n.37A>G n.1936A>G c.1697A>G (p.Lys566Arg) c.932A>G (p.Lys311Arg) c.1672+5118A>G (n.1672+5118A>G) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.130980606A>C | CA354534456 | ATP2C1 | c.1766A>C (p.Lys589Thr) c.1751A>C (p.Lys584Thr) c.631+5118A>C (n.631+5118A>C) c.1627A>C c.1718A>C (p.Lys573Thr) c.1868A>C (p.Lys623Thr) c.319A>C n.37A>C n.1936A>C c.1697A>C (p.Lys566Thr) c.932A>C (p.Lys311Thr) c.1672+5118A>C (n.1672+5118A>C) | dbSNP |