| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.47333610G>A | CA013532 | MYBPC3 | c.3137C>T (p.Thr1046Met) c.3119C>T (p.Thr1040Met) c.3056C>T (p.Thr1019Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.47333610G>C | CA380314921 | MYBPC3 | c.3137C>G (p.Thr1046Arg) c.3119C>G (p.Thr1040Arg) c.3056C>G (p.Thr1019Arg) | ClinVar dbSNP |
| 11 | g.47333610G= | CA1969335800 | MYBPC3 | c.3137C= (p.Thr1046=) c.3119C= (p.Thr1040=) c.3056C= (p.Thr1019=) | dbSNP |