| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41968837C>A | CA346037 | ATP1A3 | c.2806G>T (p.Asp936Tyr) c.2767G>T (p.Asp923Tyr) c.2800G>T (p.Asp934Tyr) c.2677G>T (p.Asp893Tyr) | ClinVar dbSNP |
| 19 | g.41968837C>G | CA406036003 | ATP1A3 | c.2806G>C (p.Asp936His) c.2767G>C (p.Asp923His) c.2800G>C (p.Asp934His) c.2677G>C (p.Asp893His) | ClinVar dbSNP |
| 19 | g.41968837C>T | CA163277 | ATP1A3 | c.2806G>A (p.Asp936Asn) c.2767G>A (p.Asp923Asn) c.2800G>A (p.Asp934Asn) c.2677G>A (p.Asp893Asn) | ClinVar dbSNP gnomAD v4 COSMIC |