| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.110915721C>A | CA009898 | MYL2 | c.163G>T (p.Ala55Ser) c.106G>T (p.Ala36Ser) c.94-1397G>T (n.94-1397G>T) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.110915721C>G | CA386699176 | MYL2 | c.163G>C (p.Ala55Pro) c.106G>C (p.Ala36Pro) c.94-1397G>C (n.94-1397G>C) | ClinVar dbSNP gnomAD v2 gnomAD v4 |