Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47333566G>A | CA013596 | MYBPC3 | c.3181C>T (p.Gln1061Ter) c.3163C>T (p.Gln1055Ter) c.3100C>T (p.Gln1034Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47333566G= | CA1969335689 | MYBPC3 | c.3181C= (p.Gln1061=) c.3163C= (p.Gln1055=) c.3100C= (p.Gln1034=) | dbSNP |