Mutation | cDNA | Protein | Effect | Mode Inheritance of | References |
---|---|---|---|---|---|
Nonsense | c. 1309C>T | p.Arg437* | PTC | AR | 4,5 |
Missense | c.1792-10delTGTAGTGGCC | FS and PTC | AR | 4 | |
Missense | c.1720C>T | p.Ala574Thr | amino acid substitution | AD | 4 |
Missense | c.625T>C | p.Cys209Arg | amino acid substitution | AD | 4; this study |
Duplication | c2220-2223dupAGAG | p. Ser740Argfs*19 | FS and PTC | AR | 5 |