Allele 1 | Allele 2 | Â | ||||
---|---|---|---|---|---|---|
Nucleotide Change | Consequence or amino acid change | Category | Nucleotide change | Consequence or amino acid change | Category | Number of patients |
c.235delC | Frameshift | Pathogenic | c.235delC | Frameshift | Pathogenic | 31 |
c.235delC | Frameshift | Pathogenic | c.299_300delAT | Frameshift | Pathogenic | 8 |
c.235delC | Frameshift | Pathogenic | c.176_191del16 | Frameshift | Pathogenic | 5 |
c.235delC | Frameshift | Pathogenic | c.257C>G | T86R TM2 | Pathogenic | 1 |
c.560_605ins46 | Frameshift | Pathogenic | c.560_.605ins46 | Frameshift | Pathogenic | 1 |
c.299_300delAT | Frameshift | Pathogenic | c.176_191del16 | Frameshift | Pathogenic | 4 |
c.176_191del16 | Frameshift | Pathogenic | c.176_191del16 | Frameshift | Pathogenic | 1 |
c.223C>T | R75W EC1 Autosomal dominant | aPathogenic PPK | c.79G>A, c.341A>G | V27I, E114G | Polymorphism | 1 |
c.235delC | Frameshift | Pathogenic | - | Â | Â | 20 |
c.299_300delAT | Frameshift | Pathogenic | - | Â | Â | 6 |
c.155_158delTCTG | Frameshift | Pathogenic | - | Â | Â | 1 |
c.592G>A | bV198M TM4 | Novel | c.79G>A, c.341A>G | V27I, E114G | Polymorphism | 2 |
c.187G>T | bV63L EC1 | Reported | - | Â | Â | 1 |
c.458T>C | bV153AEC2 | Novel | c.608T>C | I203T | Polymorphism | 1 |
c.109G>A | cV37I, TM1 | cSee note | - | Â | Â | 2 |
c.109G>A | cV37I | cSee note | c.79G>A, c.341A>G | V27I, E114G | Polymorphism | 1 |
c.79G>A, c.341A>G | V27I, E114G IC2 | Polymorphism | - | Â | Â | 42 |
c.79G>A, c.341A>G | V27I, E114G | Polymorphism | c.79G>A, c.341A>G | V27I, E114G | Polymorphism | 2 |
c.341A>G | E114G | Polymorphism | - | Â | Â | 1 |
c.79G>A | V27I TM1 | Polymorphism | - | Â | Â | 8 |
c.79G>A | V27I | Polymorphism | c.79G>A | V27I | Polymorphism | 1 |