| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.160139735C>T | CA256644 | ATP1A2 | c.2936C>T (p.Pro979Leu) c.2017C>T n.272C>T | ClinVar dbSNP |
| 1 | g.160139735C>A | CA343255792 | ATP1A2 | c.2936C>A (p.Pro979Gln) c.2017C>A n.272C>A | dbSNP |
| 1 | g.160139735C>G | CA343255796 | ATP1A2 | c.2936C>G (p.Pro979Arg) c.2017C>G n.272C>G | ClinVar dbSNP gnomAD v4 |
| 1 | g.160139735C= | CA1141581118 | ATP1A2 | c.2936C= (p.Pro979=) c.2017C= n.272C= | dbSNP |