| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.110914290C>T | CA009910 | MYL2 | c.170G>A (p.Gly57Glu) c.113G>A (p.Gly38Glu) c.128G>A (p.Gly43Glu) n.1G>A | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.110914290C>G | CA386698866 | MYL2 | c.170G>C (p.Gly57Ala) c.113G>C (p.Gly38Ala) c.128G>C (p.Gly43Ala) n.1G>C | dbSNP |
| 12 | g.110914290C= | CA2063072796 | MYL2 | c.170G= (p.Gly57=) c.113G= (p.Gly38=) c.128G= (p.Gly43=) n.1G= | dbSNP |