| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.110914287C>A | CA386698863 | MYL2 | c.173G>T (p.Arg58Leu) c.116G>T (p.Arg39Leu) c.131G>T (p.Arg44Leu) n.4G>T | ClinVar dbSNP |
| 12 | g.110914287C>T | CA009915 | MYL2 | c.173G>A (p.Arg58Gln) c.116G>A (p.Arg39Gln) c.131G>A (p.Arg44Gln) n.4G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |