| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41986177G>T | CA345997 | ATP1A3 | c.449C>A (p.Ser150Tyr) c.410C>A (p.Ser137Tyr) n.525C>A c.320C>A (p.Ser107Tyr) c.443C>A (p.Ser148Tyr) | ClinVar dbSNP |
| 19 | g.41986177G>A | CA345998 | ATP1A3 | c.449C>T (p.Ser150Phe) c.410C>T (p.Ser137Phe) n.525C>T c.320C>T (p.Ser107Phe) c.443C>T (p.Ser148Phe) | ClinVar dbSNP |
| 19 | g.41986177G= | CA2336728474 | ATP1A3 | c.449C= (p.Ser150=) c.410C= (p.Ser137=) n.525C= c.320C= (p.Ser107=) c.443C= (p.Ser148=) | dbSNP |