| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.110911152del | CA010340 | MYL2 | c.431del (p.Pro144LeufsTer3) c.374del (p.Pro125LeufsTer3) c.389del (p.Pro130LeufsTer3) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 12 | g.110911152dup | CA607329240 | MYL2 | c.431dup (p.Asp145Ter) c.374dup (p.Asp126Ter) c.389dup (p.Asp131Ter) | dbSNP gnomAD v2 gnomAD v4 |