| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.130969385C>G | CA83528635 | ATP2C1 | c.1402C>G (p.Arg468Gly) c.1387C>G (p.Arg463Gly) c.463C>G (p.Arg155Gly) c.1263C>G c.1354C>G (p.Arg452Gly) c.1504C>G (p.Arg502Gly) c.126C>G n.1572C>G c.568C>G (p.Arg190Gly) | dbSNP |
| 3 | g.130969385C>T | CA117624 | ATP2C1 | c.1402C>T (p.Arg468Ter) c.1387C>T (p.Arg463Ter) c.463C>T (p.Arg155Ter) c.1263C>T c.1354C>T (p.Arg452Ter) c.1504C>T (p.Arg502Ter) c.126C>T n.1572C>T c.568C>T (p.Arg190Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |