Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47332579C>T | CA014478 | MYBPC3 | c.3614G>A (p.Arg1205Gln) c.3596G>A (p.Arg1199Gln) c.3533G>A (p.Arg1178Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47332579C>G | CA380312247 | MYBPC3 | c.3614G>C (p.Arg1205Pro) c.3596G>C (p.Arg1199Pro) c.3533G>C (p.Arg1178Pro) | ClinVar dbSNP |