exon | type of mutation | Nt No. | Nt mutations | AA No | AA effect | WB | antibody | clinical score | Nationality | author | year |
---|---|---|---|---|---|---|---|---|---|---|---|
9 | Deletion | 899 | C del | 290 | fs/307X | Neg | Ab503 | 3 | Japan | Itoh | 2000 |
9 | Deletion | 906 | ACG-CA | 291 | fs/307X | ND | 5 | USA | Lemahieu | 1999 | |
9 | Deletion | 907 | C del | 291 | fs/291X | pos | 11G8B7 | 2 | Italy | Facchetti | 1998 |
9 | Deletion | 908 | 4bp del | 292 | fs/Ter | ND | WAS | Japan | Ariga/99BJH | 1999 | |
9 | Deletion | 911 | T del | 292 | fs/Ter | ND | WAS | Netherlands | Brooimans | 2000 | |
9 | Deletion | 922 | C del | 296 | fs/Ter | ND | 3 | Japan | Ariga/JI | 2001 | |
9 | Deletion | 925 | G del | 297 | fs/Ter307 | ND | WAS | Argentina | El-Hakeh | 2002 | |
9 | Deletion | 953 | 12bp del A953G(ATGŮgtg)new spice site |
307 | del 4 aa | ND | 2 | USA | Zhu | 1995 | |
9 | Insertion | 854 | G ins | fs/X | Neg | JD1 | 1 | UK | Qasim | 2001 | |
9 | Insertion | 854 | G ins | fs/X | Neg | JD1 | 1 | UK | Qasim | 2001 | |
9 | Insertion | 959 | 38bp ins | 309 | fs/Ter320 | ND | WAS | Argentina | El-Hakeh | 2002 | |
9 | Insertion | 965 | 114bp ins t-c at +2nt of intron 9 |
311 | ins 38 aa | ND | 4 | USA | Zhu | 1995 | |
9 | Missense | 843 | T-C | 270 | Leu-Pro | pos | 3F3-A5 | XLN | Belgium | Devriendt | 2001 |
9 | Missense | 915 | T-C | 294 | Ile-Thr | ND | XLN+MDS | UK(Zaire) | Ancliff | 2001 | |
9 | Missense | 953 | A-G | 307 | Met-Val | pos | Ab503 | 2 | USA | Kwan/HMG | 1995 |
9 | Nonsense | 866 | G-T | 278 | Gly-STOP | ND | 3 | Germany | Schindelhauer | 1996 | |
9 | Nonsense | 887 | G-A | 285 | Glu-STOP | ND | 4 | Italy | Wengler | 1995 | |
9 | Nonsense | 923 | C-T | 297 | Gln-STOP | Neg | Ab503 | 5 | USA | Zhu2 | 1997 |
9 | splicing defect | +2,int9 | t-c | splicing defect | ND | 4 | USA | Kwan/HMG | 1995 | ||
9 | splicing defect | +2,int9 | t-a | splicing defect | ND | 3 | USA | Lemahieu | 1999 | ||
9 | splicing defect | +2-5,int9 | 4bp del | splicing defect | Neg | H-250 | WAS | Italy | Dupre | 2002 |