Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47349782C>T | CA015602 | MYBPC3 | c.646G>A (p.Ala216Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
11 | g.47349782C>A | CA380337159 | MYBPC3 | c.646G>T (p.Ala216Ser) | dbSNP gnomAD v2 gnomAD v4 |
11 | g.47349782C>G | CA380337164 | MYBPC3 | c.646G>C (p.Ala216Pro) | ClinVar dbSNP |
11 | g.47349782C= | CA1969341710 | MYBPC3 | c.646G= (p.Ala216=) | dbSNP |