Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47333238C>T | CA079267 | MYBPC3 | c.3286G>A (p.Glu1096Lys) c.3268G>A (p.Glu1090Lys) c.3205G>A (p.Glu1069Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
11 | g.47333238C>A | CA013793 | MYBPC3 | c.3286G>T (p.Glu1096Ter) c.3268G>T (p.Glu1090Ter) c.3205G>T (p.Glu1069Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |