| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47337543C>G | CA078737 | MYBPC3 | c.2450G>C (p.Arg817Pro) c.2414-32G>C (n.2414-32G>C) c.2432G>C (p.Arg811Pro) c.2369G>C (p.Arg790Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47337543C>T | CA012295 | MYBPC3 | c.2450G>A (p.Arg817Gln) c.2414-32G>A (n.2414-32G>A) c.2432G>A (p.Arg811Gln) c.2369G>A (p.Arg790Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.47337543C>A | CA380318396 | MYBPC3 | c.2450G>T (p.Arg817Leu) c.2414-32G>T (n.2414-32G>T) c.2432G>T (p.Arg811Leu) c.2369G>T (p.Arg790Leu) | ClinVar dbSNP gnomAD v4 |
| 11 | g.47337543C= | CA1969340277 | MYBPC3 | c.2450G= (p.Arg817=) c.2414-32G= (n.2414-32G=) c.2432G= (p.Arg811=) c.2369G= (p.Arg790=) | dbSNP |