Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47338520C>T | CA012015 | MYBPC3 | c.2308G>A (p.Asp770Asn) c.2290G>A (p.Asp764Asn) c.2227G>A (p.Asp743Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47338520C>G | CA16613585 | MYBPC3 | c.2308G>C (p.Asp770His) c.2290G>C (p.Asp764His) c.2227G>C (p.Asp743His) | ClinVar dbSNP |