| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.110914267C>A | CA386698819 | MYL2 | c.193G>T (p.Glu65Ter) c.136G>T (p.Glu46Ter) c.151G>T (p.Glu51Ter) n.24G>T | ClinVar dbSNP |
| 12 | g.110914267C>T | CA009936 | MYL2 | c.193G>A (p.Glu65Lys) c.136G>A (p.Glu46Lys) c.151G>A (p.Glu51Lys) n.24G>A | ClinVar dbSNP |
| 12 | g.110914267C= | CA2063072669 | MYL2 | c.193G= (p.Glu65=) c.136G= (p.Glu46=) c.151G= (p.Glu51=) n.24G= | dbSNP |