Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47349785G>A | CA015589 | MYBPC3 | c.643C>T (p.Arg215Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47349785G>C | CA380337182 | MYBPC3 | c.643C>G (p.Arg215Gly) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47349785G>T | CA380337183 | MYBPC3 | c.643C>A (p.Arg215Ser) | dbSNP gnomAD v4 |