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| Population | Mutation (cDNA) | Mutation (Amino Acid) | Exon | Ref. |
|---|---|---|---|---|
| Dutch | c.346C > T | P.R116W | 8 | 51 |
| Canadian (Nova Scotia) | c.517C > T | P.R173W | 10 | 56 |
| Swedish | c.593G > A | P.W198X | 10 | 55 |
| Swiss (German-speaking) | c.848G > A | P.W283X | 14 | 31 |
| Argentinean | c.331G > A | P.G111R | 7 | 54 |
| Spanish (Murcia, southeastern region of Spain) | c.669_698del | 12 | 57 | |
| Russian | c.53delT | p.Met18ArgfsX3 | 3 | 58 |
