Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47343568G>C | CA009817 | MYBPC3 | c.1147C>G (p.Leu383Val) c.1129C>G (p.Leu377Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47343568G>A | CA474220543 | MYBPC3 | c.1147C>T (p.Leu383=) c.1129C>T (p.Leu377=) | ClinVar dbSNP |
11 | g.47343568G= | CA1969337213 | MYBPC3 | c.1147C= (p.Leu383=) c.1129C= (p.Leu377=) | dbSNP |