| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.160123228C>A | CA421350191 | ATP1A2 | c.193C>A (p.Arg65=) n.296C>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.160123228C>T | CA256653 | ATP1A2 | c.193C>T (p.Arg65Trp) n.296C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.160123228C= | CA1141581110 | ATP1A2 | c.193C= (p.Arg65=) n.296C= | dbSNP |