| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.110919133C>G | CA043539 | MYL2 | c.64G>C (p.Glu22Gln) c.7G>C (p.Glu3Gln) n.257G>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.110919133C>A | CA010523 | MYL2 | c.64G>T (p.Glu22Ter) c.7G>T (p.Glu3Ter) n.257G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.110919133C>T | CA010513 | MYL2 | c.64G>A (p.Glu22Lys) c.7G>A (p.Glu3Lys) n.257G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |