exon | type of mutation | Nt No. | Nt mutations | AA No | AA effect | WB | antibody | clinical score | Nationality | author | year |
---|---|---|---|---|---|---|---|---|---|---|---|
8 | Deletion | 768 | 19bp del | 245 | fs/Ter | ND | WAS | Netherlands | Brooimans | 2000 | |
8 | Deletion | 789 | G del | 253 | fs/260X | ND | 2 | USA | Lemahieu | 1999 | |
8 | splicing defect | -2,int8 | a-g | splicing defect | ND | 4 | USA | Kwan/HMG | 1995 | ||
8 | splicing defect | +1,int8 | g-a | exon9 skipping | ND | 4 | Italy | Wengler | 1995 | ||
8 | splicing defect | +1,int8 | g-a | exon9 skipping | ND | 3 | Germany | Schindelhauer | 1996 | ||
8 | splicing defect | +1,int8 | g-a | exon9 skipping | ND | 2E | Denmark | Schwartz | 1996 | ||
8 | splicing defect | +1,int8 | g-c | splicing defect | ND | WAS | Argentina | El-Hakeh | 2002 | ||
8 | splicing defect | +1,int8 | g-c | 246 | fs/246X | Neg 0 |
Ab503 | 5A | Japan | Imai | 2004 |
8 | splicing defect | +1,int8 | g-a | 259 | fs/Ter | Neg | JD1 | WAS | UK | MacCarthy-Morrogh | 1999 |
8 | splicing defect | +1,int8 | g-a | 259 | fs/Ter | Neg | JD1 | WAS | UK | MacCarthy-Morrogh | 1999 |
8 | splicing defect | +1,int8 | gtga del | 259 | fs/Ter | ND | WAS | Netherlands | Brooimans | 2000 | |
8 | splicing defect | +1,int8 | gtga del | 259 | fs/Ter | Neg | 5A5 | 3 | Japan | Kawai | 2002 |
8 | splicing defect | +1,int8 | gtga del | 259 | fs/Ter | Neg | 5A5 | 3 | Japan | Kawai | 2002 |
8 | splicing defect | +3,int8 | t ins | splicing defect | ND | 4 | Italy | Wengler | 1995 | ||
8 | splicing defect | +3,int8 | t ins | splicing defect | pos | 11G8B7 | 3 | Italy | Allavena | 2001 | |
8 | splicing defect | +1-4,int8 | gtga del | Neg 0 |
Ab503 | 4 | Japan | Imai | 2004 | ||
8 | splicing defect | +1-4,int8 | gtga del | Neg 0 |
Ab503 | 5M | Japan | Imai | 2004 | ||
8 | splicing defect | +1-4,int8 | gtga del | Neg 0 |
Ab503 | 4 | Japan | Imai | 2004 |