Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47337534C>T | CA012326 | MYBPC3 | c.2459G>A (p.Arg820Gln) c.2414-23G>A (n.2414-23G>A) c.2441G>A (p.Arg814Gln) c.2378G>A (p.Arg793Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47337534C>G | CA012335 | MYBPC3 | c.2459G>C (p.Arg820Pro) c.2414-23G>C (n.2414-23G>C) c.2441G>C (p.Arg814Pro) c.2378G>C (p.Arg793Pro) | ClinVar dbSNP gnomAD v4 |