| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.110913140G>C | CA010193 | MYL2 | c.358C>G (p.Arg120Gly) c.301C>G (p.Arg101Gly) c.316C>G (p.Arg106Gly) n.290C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.110913140G>A | CA010200 | MYL2 | c.358C>T (p.Arg120Trp) c.301C>T (p.Arg101Trp) c.316C>T (p.Arg106Trp) n.290C>T | ClinVar dbSNP gnomAD v4 |