| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.110915759C>G | CA386699398 | MYL2 | c.125G>C (p.Gly42Ala) c.68G>C (p.Gly23Ala) c.94-1435G>C (n.94-1435G>C) | dbSNP |
| 12 | g.110915759C>T | CA279277 | MYL2 | c.125G>A (p.Gly42Asp) c.68G>A (p.Gly23Asp) c.94-1435G>A (n.94-1435G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.110915759C= | CA2063074939 | MYL2 | c.125G= (p.Gly42=) c.68G= (p.Gly23=) c.94-1435G= (n.94-1435G=) | dbSNP |