| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.28887236C>T | CA127434 | ATP2A1 | c.592C>T (p.Arg198Ter) c.217C>T (p.Arg73Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.28887236C= | CA2215886982 | ATP2A1 | c.592C= (p.Arg198=) c.217C= (p.Arg73=) | dbSNP |
| 16 | g.28887236C>A | CA494501304 | ATP2A1 | c.592C>A (p.Arg198=) c.217C>A (p.Arg73=) | dbSNP gnomAD v4 |