| exon | type of mutation | Nt No. | Nt mutations | AA No | AA effect | WB | antibody | clinical score | Nationality | author | year |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 5 | Deletion | 516 | C del | 161 | fs/X | Neg | JD1 | 3 | UK | Qasim | 2001 |
| 5 | Deletion | 516 | C del | 161 | fs/X | ND | WAS | Argentina | El-Hakeh | 2002 | |
| 5 | Insertion | 512 | C ins | 160 | fs/Ter | ND | 2E | Italy | Villa | 1995 | |
| 5 | Insertion | 512 | C ins | 160 | fs/Ter | ND | 1 | Italy | Wengler | 1995 | |
| 5 | Nonsense | 506 | C-T | 158 | Gln-STOP | ND | ND | China | Chan/2002 | 2002 | |
| 5 | splicing defect | 539 | G-T | 155-169 | 14aa del, Asn-STOP | Pos tr |
Ab503 | 2 | Japan | Imai | 2004 |