| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.110911082C>G | CA386696689 | MYL2 | c.496G>C (p.Asp166His) c.439G>C (p.Asp147His) c.454G>C (p.Asp152His) | ClinVar dbSNP |
| 12 | g.110911082C>T | CA386696690 | MYL2 | c.496G>A (p.Asp166Asn) c.439G>A (p.Asp147Asn) c.454G>A (p.Asp152Asn) | ClinVar dbSNP gnomAD v2 COSMIC |
| 12 | g.110911082C>A | CA010463 | MYL2 | c.496G>T (p.Asp166Tyr) c.439G>T (p.Asp147Tyr) c.454G>T (p.Asp152Tyr) | ClinVar dbSNP |