Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
11 | g.47346222C>A | CA10576892 | MYBPC3 | c.1075G>T (p.Glu359Ter) c.1057G>T (p.Glu353Ter) | ClinVar dbSNP |
11 | g.47346222C>T | CA380331001 | MYBPC3 | c.1075G>A (p.Glu359Lys) c.1057G>A (p.Glu353Lys) | dbSNP gnomAD v4 |