| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.10338239C>G | CA432432775 | ATP2B2 | c.3222G>C (p.Ala1074=) c.3324G>C (p.Ala1108=) c.3357G>C (p.Ala1119=) c.3264G>C (p.Ala1088=) c.1075G>C (p.Gly359Arg) c.2616G>C (p.Ala872=) c.2925G>C (p.Ala975=) c.2289G>C (p.Ala763=) | dbSNP |
| 3 | g.10338239C>T | CA2253123 | ATP2B2 | c.3222G>A (p.Ala1074=) c.3324G>A (p.Ala1108=) c.3357G>A (p.Ala1119=) c.3264G>A (p.Ala1088=) c.1075G>A (p.Gly359Arg) c.2616G>A (p.Ala872=) c.2925G>A (p.Ala975=) c.2289G>A (p.Ala763=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |