Family | Mutation | Domain | Amino acid substitution | First reference |
---|---|---|---|---|
Family B | IVS8+8insT | SP | Frameshift | This study |
Family B | 207delC | LDLRA | Frameshift | [9] |
PKDF003 | 207delC | LDLRA | Frameshift | [9] |
PKDF040 | 1219T>C | SP | C407R | [5] |
PKDF064 | 581G>T | SRCR | C194F | [5] |
PKDF311 | 207delC | LDLRA | Frameshift | [9] |