| exon | type of mutation | Nt No. | Nt mutations | AA No | AA effect | WB | antibody | clinical score | Nationality | author | year |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | splicing defect | +1,int1 | g-a | splicing defect | Neg | W-485, W-224 | 1 | USA | Kwan/HMG | 1995 | |
| 1 | splicing defect | +2,int1 | t-g | fs/Stop | Neg 0 |
Ab503 | 3 | Japan | Imai | 2004 | |
| 2 | splicing defect | -1,int2 | g-a | exon3 skipping | ND | 2I | Japan | Ariga/96BBA | 1996 | ||
| 2 | splicing defect | +2,int2 | t-c | splicing anomaly | ND | WAS | Argentina | El-Hakeh | 2002 | ||
| 3 | splicing defect | -2,int3 | a-c | 120 | splicing defect | ND | WAS | Canada | Greer | 1996 | |
| 3 | splicing defect | -1,int3 | g-a | fs/Ter | Neg | Ab503 | 3 | USA | Zhu2 | 1997 | |
| 3 | splicing defect | -1,int3 | g-a | 121 | fs/201X, fs/251X | Neg 0 |
Ab503 | 5M | Japan | Imai | 2004 |
| 3 | splicing defect | +1,int3 | g-c | exon3 skipping | ND | 4 | Germany | Schindelhauer | 1996 | ||
| 3 | splicing defect | +1,int3 | g-a | exon3 skipping | Neg | W-485 | 4 | USA | Remold-O'Donnel | 1997 | |
| 3 | splicing defect | +1,int3 | g-a | 92-120 | 29 aa del | Pos 1 |
Ab503 | 3 | Japan | Imai | 2004 |
| 3 | splicing defect | +2,int3 | t ins | exon3 skipping | Neg | W-485 | 5 | USA | Remold-O'Donnel | 1997 | |
| 3 | splicing defect | +2,int3 | t ins | exon3 skipping | Neg | W-485 | WAS | USA | Shcherbina | 1999 | |
| 3 | splicing defect | 393 | 7bp del | splicing defect | ND | WAS | Argentina | El-Hakeh | 2002 | ||
| 3 | splicing defect | 394 | G-T | fs/X | Neg | JD1 | 4 | UK | Qasim | 2001 | |
| 3 | splicing defect | +1-8,int4, -3,int3 | del 8bp, G ins | fs/Stop | ND | Ab503 | 1 | Japan | Imai | 2004 | |
| 4 | splicing defect | -4,int4 | acag del | 154 | splicing defect | ND | WAS | Canada | Greer | 1996 | |
| 5 | splicing defect | 539 | G-T | 155-169 | 14aa del, Asn-STOP | Pos tr |
Ab503 | 2 | Japan | Imai | 2004 |
| 6 | splicing defect | -1,int6 | g-a | splicing defect | Neg | W-485, W-224 | 3 | USA | Kwan/HMG | 1995 | |
| 6 | splicing defect | ND | ND | Pos 1 |
Ab503 | 4 | Japan | Imai | 2004 | ||
| 6 | splicing defect | +1,int6 | g-a | splicing defect | ND | 3 | Germany | Schindelhauer | 1996 | ||
| 6 | splicing defect | +5,int6 | g-a | splicing defect | Neg | W-485, W-224 | 3 | USA | Kwan/PNAS | 1995 | |
| 6 | splicing defect | +5,int6 | g del | 37bp ins int6, exon7 skipping | ND | NA | USA | Lemahieu | 1999 | ||
| 6 | splicing defect | +5,int6 | g-a | splicing defect | Neg | W-485 | 3 | USA | Shcherbina | 1999 | |
| 6 | splicing defect | +5,int6 | g-a | splicing defect | Neg | W-485 | 3 | USA | Shcherbina | 1999 | |
| 6 | splicing defect | +5,int6 | g-a | splicing defect | Neg | W-485 | 3 | USA | Shcherbina | 1999 | |
| 6 | splicing defect | +5,int6 | g-a | splicing defect | Neg | B4 | 3 | USA | Falet | 2002 | |
| 6 | splicing defect | +5,int6 | g-a | splicing defect | pos | Ab503 | 2 | Japan | Inoue | 2002 | |
| 6 | splicing defect | +5,int6 | g-a | splicing defect | pos | Ab503 | 3(5A) | Japan | Kawakami | 2003 | |
| 6 | splicing defect | +5,int6 | g-a | Pos 1 |
Ab503 | 1 | Japan | Imai | 2004 | ||
| 6 | splicing defect | +5,int6 | g-a | 190 | fs/Ter | pos | Ab503 | 1 | USA | Zhu2 | 1997 |
| 6 | splicing defect | +5,int6 | g-a | 190 | 38bp ins int6, exon7 skipping | pos | (143) | 3 | USA | Lemahieu | 1999 |
| 7 | splicing defect | -1,int7 | g del | 246 | fs/246X | Neg | Ab503 | 5A | Japan | Itoh | 2000 |
| 7 | splicing defect | +1,int7 | g del | splicing defect | ND | 4 | Italy | Wengler | 1995 | ||
| 7 | splicing defect | +1,int7 | g-a | splicing defect | ND | 3 | Italy | Giliani | 1999 | ||
| 7 | splicing defect | +5,int7 | g-a | splicing defect | Neg | W-485 | WAS | Germany | Shcherbina | 1999 | |
| 7 | splicing defect | +5,int7 | g-a | splicing defect | Neg | W-485 | WAS | Germany | Shcherbina | 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 | ||
| 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 | |
| 10 | splicing defect | -3,int10 | c del | splicing defect | ND | 4 | Italy | Wengler | 1995 | ||
| 10 | splicing defect | -2,int10 | a-t | splicing defect | ND | 4 | Italy | Wengler | 1995 | ||
| 10 | splicing defect | ND | ND | Pos 1 1 |
Ab503 | 1 | Japan | Imai | 2004 | ||
| 10 | splicing defect | +2,int10 | t-c | 484 | splicing defect | ND | WAS | Canada | Greer | 1996 | |
| 11 | splicing defect | ND | ins118bp | fs/X | Pos 1 |
Ab503 | 2(5A) | Japan | Imai | 2004 | |
| 11 | splicing defect | ND | ins118bp | fs/X | Pos 1 |
Ab503 | 2(5A) | Japan | Imai | 2004 | |
| 11 | splicing defect | ND | ins118bp | fs/X | Pos 1 |
Ab503 | 3 | Japan | Imai | 2004 | |
| 11 | splicing defect | +?,int11 | g del | splicing defect | ND | 3 | Japan | Ariga/JI | 2001 | ||
| 11 | splicing defect | +2,int11 | t-c skipping exon 11(115bp) |
fs/Ter | ND | 4* | USA | Zhu | 1995 |