Nucleotide change | Codon change | Location | Mutation type | Reports |
---|---|---|---|---|
414G>A | ACG>ACA (G18R) | PD exon 5 | Missense | 1 |
494C>T | CGA>TGA (R44X) | PD exon 5 | Nonsense | 1 |
493G>A | CGA>CAA (R44Q) | PD exon 5 | Missense | 1 |
669C>T | CGA>TGA (R103X) | PD exon 6 | Nonsense | 3 |
744C>T | CGC>TGC (R128C) | PD exon 7 | Missense | 2 |
782C>T | GAC>GAT (D140D) | LNK exon 7 | Neutral | 1 |
969C>T | CGA>TGA (R203X) | LNK exon 8 | Nonsense | 15 |
984C>T | CGG>TGG (R208W) | LNK exon 8 | Missense | 1 |
985G>A | CGG>CAG (R208Q) | LNK exon 8 | Missense | 1 |
1080C>T | CGA>TGA (R240X) | HD exon 9 | Nonsense | 21 |
1143C>T | CGA>TGA (R261X) | HD exon 10 | Nonsense | 8 |
1311C>T | CGA>TGA (R317X) | PST exon 11 | Nonsense | 16 |