New mutations identified
| Case | Mutation type | Location | Mutation form | Result |
| Nef | Substitution | Intron 4–5 | 5′ splice site(T to C) | Splice site change |
| FIf | Substitution | Exon 5 | nt1170(G to A) | Gly to Arg |
| FR9f | Substitution | Exon 8 | nt1611(G to T) | Stop codon TAG |
| Jonf | Substitution | Exon 6 | nt1233(G to T) | Stop codon TAA |
| Chas | Substitution | Exon 7 | nt1420(G to T) | Ser to Ile |
| Bers | Deletion | Exon 8 | nt1470(del T) | Reading frameshift |
| PpHs | Substitution | Exon 8 | nt1500(C to T) | Stop codon TGA |
| GHf | Substitution | Exon 8 | nt1500(C to T) | Stop codon TGA |
Codes ending in f are familial cases, those with s are sporadic.