Family | Mutation | ||
---|---|---|---|
Type | Nucleic acid change | Amino acid substitution | |
Ht, heterozygous; Hm, homozygous, fs, frameshift. | |||
Mutations in bold represent novel alterations. | |||
*Substitution at non-conserved residue that is unlikely to be disease associated (see text). | |||
1 | Ht | 595delG, 1148delC | Glu199fs, Thr383fs |
19 | Ht | 919A→G | Ile307Val* |
2 | Hm | 1148delC | Thr383fs |
5 | Ht | 1148delC | Thr383fs |
11 | Hm | 1148delC | Thr383fs |
14 | Hm | 1148delC | Thr383fs |
16 | Hm | 1148delC | Thr383fs |
17 | Hm | 1148delC | Thr383fs |
13 | Hm | 1573/4TT→AA | Phe525Asn |