| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.160136307C>A | CA1194766 | ATP1A2 | c.2500C>A (p.Arg834=) c.1632C>A n.2603C>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.160136307C>G | CA343251443 | ATP1A2 | c.2500C>G (p.Arg834Gly) c.1632C>G n.2603C>G | ClinVar dbSNP |
| 1 | g.160136307C>T | CA10588270 | ATP1A2 | c.2500C>T (p.Arg834Ter) c.1632C>T n.2603C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |