Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
16 | g.28902228C>G | CA395413627 | ATP2A1 | c.2366C>G (p.Pro789Arg) c.1991C>G (p.Pro664Arg) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
16 | g.28902228C>T | CA127438 | ATP2A1 | c.2366C>T (p.Pro789Leu) c.1991C>T (p.Pro664Leu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
16 | g.28902228C= | CA2215887384 | ATP2A1 | c.2366C= (p.Pro789=) c.1991C= (p.Pro664=) | dbSNP |