| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.28903043C>T | CA16620184 | ATP2A1 | c.2758C>T (p.Gln920Ter) c.2383C>T (p.Gln795Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.28903043C>G | CA395415429 | ATP2A1 | c.2758C>G (p.Gln920Glu) c.2383C>G (p.Gln795Glu) | dbSNP gnomAD v4 |
| 16 | g.28903043C= | CA2215888992 | ATP2A1 | c.2758C= (p.Gln920=) c.2383C= (p.Gln795=) | dbSNP |