Patient 1 | Patient 2 | Patient 3 | |
---|---|---|---|
Gene mutation | c.2254A > T | c.377G > T | c.362_363insG |
protein | p.Arg752Stop,279 | p.Cys126Phe | p.Ala122GlyfsTer7 |
father | wild type | wild type | wild type |
mother | wild type | wild type | wild type |
Mutation style | Heterozygous, truncation mutation | Heterozygous, missense mutation | Heterozygous, frameshift mutation |
ACMG degree | Pathogenic | Likely pathogenic | Likely pathogenic |