| exon | type of mutation | Nt No. | Nt mutations | AA No | AA effect | WB | antibody | clinical score | Nationality | author | year |
|---|---|---|---|---|---|---|---|---|---|---|---|
| 10 | Deletion | 984 | C del | 318 | fs/Ter | ND | ND | China | Chan/2002 | 2002 | |
| 10 | Deletion | 1019 | C del | 328 | fs/444X | ND | 2 | Spain | Fillat/2001 | 2001 | |
| 10 | Deletion | 1019 | C del | 328 | fs/444X | ND | 5 | Spain | Fillat/2001 | 2001 | |
| 10 | Deletion | 1019 | C del | 328 | fs/444X | ND | 4 | Spain | Fillat/2001 | 2001 | |
| 10 | Deletion | 1019 | C del | 328 | fs/444X | ND | 4 | Spain | Fillat/2001 | 2001 | |
| 10 | Deletion | 1030 | 6bp del | 332 | fs/Ter | ND | WAS | USA | Ochs(unpublished) | 1997 | |
| 10 | Deletion | 1030 | G del | 333 | fs/Ter | Neg | Ab503 | 4 | USA | Zhu2 | 1997 |
| 10 | Deletion | 1030 | G del | 333 | fs/444X | pos | 11G8B7 | 3 | Italy | Facchetti | 1998 |
| 10 | Deletion | 1035 | G del | 333 | fs/Ter | ND | WAS | Canada | Greer | 1996 | |
| 10 | Deletion | 1035 | G del | 333 | fs/Ter | ND | WAS | Canada | Greer | 1996 | |
| 10 | Deletion | 1086 | C del | 351 | fs/Ter | Neg | W-485, W-224 | 1 | USA | Kwan/HMG | 1995 |
| 10 | Deletion | 1086 | C del | 351 | fs/Ter | ND | 4 | Italy | Wengler | 1995 | |
| 10 | Deletion | 1086 | C del | 351 | fs/Ter | ND | 5 | Japan | Ariga/97PedRes | 1997 | |
| 10 | Deletion | 1109 | C-A, C del | 359 | fs/Ter | ND | 2E | USA | Derry/HMG | 1995 | |
| 10 | Deletion | 1109 | C del | 444 | fs/Ter | Neg | Ab503 | 5 | USA | Zhu2 | 1997 |
| 10 | Deletion | 1119 | C del | 444 | fs/444X | ND | 4 | USA | Kwan/HMG | 1995 | |
| 10 | Deletion | 1119 | C del | 444 | fs/444X | Neg | 5A5 | WAS | Japan | Sasahara | 2000 |
| 10 | Deletion | 1178 | C del | fs/X | Neg 0 |
Ab503 | 3 | Japan | Imai | 2004 | |
| 10 | Deletion | 1184 | C del | 384 | fs/444X | Neg | 11G8B7 | 4 | Italy | Facchetti | 1998 |
| 10 | Deletion | 1234 | 10bp del | 399 | fs/Ter | ND | WAS | Canada | Greer | 1996 | |
| 10 | Deletion | 1295 | 11bp del | 421 | fs/Ter | ND | WAS | HongKong | Chan | 1999 | |
| 10 | Deletion | 1301 | 5bp del | 423 | fs/Ter | Neg | Ab503 | 5 | USA | Zhu | 1995 |
| 10 | Deletion | 1303 | 18bp del | 423 | del AWPGGG | ND | 4 | Denmark | Schwartz | 1996 | |
| 10 | Deletion | 1305 | G del | 424 | fs/Ter | pos | W-485, W-224 | 3A | USA | Kwan/PNAS | 1995 |
| 10 | Deletion | 1305 | G del | 424 | fs/Ter | pos | W-485 | WAS | USA | Shcherbina | 1999 |
| 10 | Deletion | 1305 | G del | 424 | fs/Ter | pos | B4 | 2I | USA | Falet | 2002 |
| 10 | Deletion | 1319 | G del | 430 | fs/444X | ND | 5 | USA | Lemahieu | 1999 | |
| 10 | Deletion | 1380 | 8bp del | 449 | fs/Ter | ND | WAS | Argentina | El-Hakeh | 2002 | |
| 10 | Deletion | 1030-1035 | G del | 333 | fs/Ter | ND | WAS | Argentina | El-Hakeh | 2002 | |
| 10 | Deletion | 1047,1048 | GT del | 337 | fs/Ter | ND | WAS | Canada | Greer | 1996 | |
| 10 | Deletion | 1088-1092 | C del | 351 | fs/Ter444 | ND | mild WAS | Argentina | El-Hakeh | 2002 | |
| 10 | Deletion,Missense | 1110,1109 | C del/C-A | 444/359 | fs/Ter/Pro-Thr | Neg | Ab503 | 4 | USA | Zhu2 | 1997 |
| 10 | Insertion | 981 | C ins | 317 | fs/X | Neg | 3F3-A5 | WAS | Japan | Ariga/99BJH | 1999 |
| 10 | Insertion | 1016 | C ins | 328 | fs/335X | ND | WAS | UK | Thompson | 1999 | |
| 10 | Insertion | 1025 | A ins | 330 | fs/Ter | Neg | Ab503 | 3 | USA | Zhu2 | 1997 |
| 10 | Insertion | 1029 | T ins | 335 | fs/Ter | pos | Ab503 | 2 | USA | Zhu2 | 1997 |
| 10 | Insertion | 1035 | G ins | 335 | fs/Ter | ND | 4 | USA | Kwan/HMG | 1995 | |
| 10 | Insertion | 1035 | G ins | 335 | fs/Ter | ND | 2I | USA | Rohrer | 1996 | |
| 10 | Insertion | 1035 | G ins | 335 | fs/Ter | ND | 1 | USA | Rohrer | 1996 | |
| 10 | Insertion | 1053 | G ins | 340 | fs/Ter | ND | 4 | Denmark | Schwartz | 1996 | |
| 10 | Insertion | 1055 | T ins | 341 | fs/Ter | ND | 5A5 | WAS | USA | Orange | 2002 |
| 10 | Insertion | 1253 | GG ins | 408 | fs/444X | Neg | JD1 | WAS | UK | MacCarthy-Morrogh | 1999 |
| 10 | Insertion | 1269 | 17bp ins | 412 | fs/Ter | ND | 4 | USA | Kolluri | 1995 | |
| 10 | Insertion | 1301 | G ins | 423 | fs/Ter | ND | 4 | USA | Ochs(unpublished) | 1997 | |
| 10 | Insertion | 1305 | G ins | 424 | fs/Ter | ND | 4 | USA | Kolluri | 1995 | |
| 10 | Insertion | 1305 | G ins | 424 | fs/Ter | ND | 4 | Denmark | Schwartz | 1996 | |
| 10 | Insertion | 1305 | G ins | 424 | fs/X | Neg | JD1 | 4 | UK | Qasim | 2001 |
| 10 | Insertion | 1305 | G ins | 424 | >del 19bp back mutation | Neg | 3F3-A5 | 5A | USA | Wada/2003 | 2003 |
| 10 | Insertion | 1305 | G ins | 424 | >del 19bp back mutation | Neg | 3F3-A5 | 5M | USA | Wada/2003 | 2003 |
| 10 | Insertion | 1372 | 13bp ins (9bp del, 11bp ins intron 10) |
449 | fs/Ter | ND | 4 | USA | Zhu | 1995 | |
| 10 | Insertion,Deletion | 1099,1127 | A ins, G del | 356-365 | PRGPPPPGRG-TPGTPTPRPR | ND | WAS | Japan | Ariga/98Blood | 1998 | |
| 10 | Insertion/deletion | 1016,1029 | C ins, G del | 328-32 | RPPIV-PAPYC | pos | 3F3-A5 | 2E | USA | Stewart | 1996 |
| 10 | Missense | 1050,1151 | C-A/C-T | 339/373 | Ser-Tyr/Pro-Ser | ND | WAS | USA | Ochs(unpublished) | 1997 | |
| 10 | Nonsense | 995 | C-T | 321 | Arg-STOP | Neg | Ab503 | 3 | USA | Zhu | 1995 |
| 10 | Nonsense | 995 | C-T | 321 | Arg-STOP | Neg | Ab503 | 2 | USA | Zhu | 1995 |
| 10 | Nonsense | 995 | C-T | 321 | Arg-STOP | ND | 2I | Germany | Schindelhauer | 1996 | |
| 10 | Nonsense | 995 | C-T | 321 | Arg-STOP | Neg | Ab503 | 5 | USA | Zhu2 | 1997 |
| 10 | Nonsense | 995 | C-T | 321 | Arg-STOP | ND | 2 | USA | Lemahieu | 1999 | |
| 10 | Nonsense | 995 | C-T | 321 | Arg-STOP | Neg | 5A5 | WAS | Japan | Sasahara | 2000 |
| 10 | Nonsense | 995 | C-T | 321 | Arg-STOP | Neg | 11G8B7 | 4 | Italy | Allavena | 2001 |
| 10 | Nonsense | 995 | C-T | 321 | Arg-STOP | ND | 4 | Spain | Fillat/2001 | 2001 | |
| 10 | Nonsense | 995 | C-T | 321 | Arg-STOP | ND | 4 | Spain | Fillat/2001 | 2001 | |
| 10 | Nonsense | 995 | C-T | 321 | Arg-STOP | ND | 4 | Spain | Fillat/2001 | 2001 | |
| 10 | Nonsense | 995 | C-T | 321 | Arg-Stop | Neg tr |
Ab503 | 3 | Japan | Imai | 2004 |
| 10 | Nonsense | 995 | C-T | 321 | Arg-Stop | Neg tr |
Ab503 | 4 | Japan | Imai | 2004 |
| 10 | Nonsense | 1124 | C-T | 364 | Arg-STOP | ND | 2 | USA | Lemahieu | 1999 | |
| 10 | Nonsense | 1352 | C-T | 440 | Gln-STOP | ND | 4 | USA | Lemahieu | 1999 | |
| 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 |