Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47337503dup | CA012366 | MYBPC3 | c.2490dup (p.His831SerfsTer2) c.2422dup (p.Ser808PhefsTer7) c.2472dup (p.His825SerfsTer2) c.2409dup (p.His804SerfsTer2) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337503A= | CA3182733437 | MYBPC3 | c.2490T= (p.Ser830=) c.2422T= (p.Ser808=) c.2472T= (p.Ser824=) c.2409T= (p.Ser803=) | dbSNP |