CBS MUTATION DATABASE
Mutation database|
CBS MUTATION DATABASE |
|
Mutation database |
| ID | gDNA NT change | Exon-Intron | Mutation type | Restriction site | cDNA NT change | Protein change | Eye | Skeletal | Vasc | CNS | Disease type | Responsivness | Ancestry | References | Linked mutation | CpG |
| 1 | 146 C>T | EX1 | miss | Dde I+ | 146 C>T | P49L | eye | skel | - | - | - | responsive | Italian | de Franchis et al.,1998 | IVS11-89del49 | CG>TG |
| 2 | 172 C>T | EX1 | miss | 172 C>T | R58W | eye | skel | vasc | cns | severe | non | Italian | de Franchis et al., 1999 | 341 C>T; [A114V] | CG>TG | |
| 3 | 194 A>G | EX1 | miss | 194 A>G | H65R | - | - | - | - | - | - | Japanese | Chen et al. 1999 | |||
| 4 | 3600 C>G | EX2 | miss | 233 C>G | P78R | - | - | vasc | - | mild | responsive | Irish | de Franchis et al., 1994 | 306 G>C; [K102N] | ||
| 5 | 3620 G>A | EX2 | miss | 253 G>A | G85R | eye | skel | - | - | mild | - | Danish | MacLean et al., 2002 | CG>CA | ||
| 6 | 3629 C>T | EX2 | miss | Mnl I+ | 262 C>T | P88S | - | - | vasc | - | mild | responsive | Italian | Sebastio et al., 1995 | ||
| 7 | 3669 T>C | EX2 | miss | 302 T>C | L101P | - | - | - | - | - | - | Irish | Gallagher et al., 1998 | |||
| 8 | 3669 T>C | EX2 | miss | 302 T>C | L101P | - | - | - | - | - | - | Irish | Gallagher et al., 1998 | |||
| 9 | 3669 T>C | EX2 | miss | 302 T>C | L101P | - | - | - | - | - | - | Irish | Gallagher et al., 1998 | |||
| 10 | 3671 A>C 6643 del29 | EX2; IVS4 | miss | PstI+ | 304 A>C; IVS4-29del129 | K102Q; del EX5 | eye | - | vasc | - | severe | - | Arabian | Kozich et al., 1997b | IVS4-31del 29; [del ex 5] | |
| 11 | 3673 G>C | EX2 | miss | 306 G>C | K102N | - | - | vasc | - | mild | responsive | Irish | de Franchis et al., 1994 | 233 C>G; [P78R] | ||
| 12 | 5840 C>T | EX3 | miss | Mae II+ | 341 C>T | A114V | eye | skel | vasc | cns | severe | non | Italian | de Franchis et al., 1999 | 172 C>T; [R58W] | CG>TG |
| 13 | 5840 C>T | EX3 | miss | Mae II+ | 341 C>T | A114V | eye | skel | vasc | - | mild | responsive | Irish/German | Kozich et al., 1993 | CG>TG | |
| 14 | 5840 C>T | EX3 | miss | Mae II+ | 341 C>T | A114V | eye | skel | - | - | mild | responsive | Italian | de Franchis et al., 1999 | CG>TG | |
| 15 | 5840 C>T | EX3 | miss | Mae II+ | 341 C>T | A114V | - | - | - | - | moderate | responsive | Italian | CG>TG | ||
| 16 | 5840 C>T | EX3 | miss | Mae II+ | 341 C>T | A114V | eye | skel | - | cns | mild | responsive | Italian | CG>TG | ||
| 17 | 5840 C>T | EX3 | miss | Mae II+ | 341 C>T | A114V | eye | skel | - | cns | mild | responsive | Italian | CG>TG | ||
| 18 | 5845 G>A | EX3 | miss | 346 G>A | G116R | - | - | - | - | moderate | responsive | Italian | Sperandeo et al., 1996b | CG>CA | ||
| 19 | 5845 G>A | EX3 | miss | 346 G>A | G116R | eye | skel | vasc | cns | severe | responsive | Italian | Sebastio G.* | CG>CA | ||
| 20 | 5845 G>A | EX3 | miss | 346 G>A | G116R | eye | skel | - | - | mild | responsive | Italian | Sebastio G.* | CG>CA | ||
| 21 | 5845 G>A | EX3 | miss | 346 G>A | G116R | - | - | - | - | - | - | Japanese | Chen et al. 1999 | CG>CA | ||
| 22 | 5860 C>T | EX3 | miss | 361 C>T | R121C | - | - | vasc | cns | - | - | Norwegian/Irish/German | Shih, V.* | CG>TG; * | ||
| 23 | 5860 C>T | EX3 | miss | 361 C>T | R121C | - | - | - | - | asymptomatic | - | Norwegian/Irish/German | Shih, V.* | CG>TG; * | ||
| 24 | 5861 G>A | EX3 | miss | 362 G>A | R121H | eye | skel | - | cns | - | - | African American | Shih, V.* | CG>CA; * | ||
| 25 | 5861 G>T | EX3 | miss | 362 G>T | R121L | eye | - | - | - | mild | - | Chinese | Shih, V.* | |||
| 26 | 5861 G>T | EX3 | miss | 362 G>T | R121L | eye | - | - | - | mild | - | Chinese | Shih, V.* | |||
| 27 | 5872 C>T | EX3 | miss | Aci I - | 373 C>T | R125W | - | skel | - | - | mild | partial | Dutch | Kluijtmans et al., 1998 | CG>TG | |
| 28 | 5873 G>A | EX3 | miss | Pst I+ | 374 G>A | R125Q | eye | skel | - | cns | severe | non | Portuguese | Gordon R * | CG>CA | |
| 29 | 5873 G>A | EX3 | miss | Pst I+ | 374 G>A | R125Q | eye | skel | - | cns | severe | non | Portuguese | Gordon R * | CG>CA | |
| 30 | 5873 G>A | EX3 | miss | Pst I+ | 374 G>A | R125Q | eye | skel | vasc | cns | severe | partial | Italian | Sebastio et al. 1995 | CG>CA | |
| 31 | 5873 G>A | EX3 | miss | Pst I+ | 374 G>A | R125Q | eye | skel | vasc | cns | severe | partial | Italian | Sebastio et al. 1995 | CG>CA | |
| 32 | 5873 G>A | EX3 | miss | Pst I+ | 374 G>A | R125Q | - | - | - | - | moderate | non | Irish | Marble et al.,1994 | 393 G>C; [E131D] | CG>CA |
| 33 | 5875 A>G | EX3 | miss | 376 A>G | M126V | - | - | - | - | - | - | Italian | de Franchis et al., 1999 | |||
| 34 | 5883 G>C | EX3 | miss | Mul I-,Fok I- | 384 G>C | E128D | eye | skel | vasc | cns | - | non | French | Coude et al., 1998 | ||
| 35 | 5914 G>A | EX3 | miss | 415 G>A | G139R | - | - | - | - | asymptomatic | responsive | Italian/Irish | Shih et al., 1995 | CG>CA | ||
| 36 | 5929 G>A | EX3 | miss | Taq I- | 430 G>A | E144K | eye | skel | - | - | moderate | responsive | English/German | Shih et al., 1995 | CG>CA | |
| 37 | 5929 G>A | EX3 | miss | Taq I- | 430 G>A | E144K | eye | skel | - | cns | severe | non | English/Welsh | Gordon et al., 1997 | CG>CA | |
| 38 | 5929 G>A | EX3 | miss | Taq I- | 430 G>A | E144K | eye | skel | - | cns | mild | partial | Australian | Dawson et al.,1997 | 1316 G>A; [R439Q] | CG>CA |
| 39 | 5929 G>A | EX3 | miss | Taq I- | 430 G>A | E144K | - | - | - | - | - | - | Japanese | Shih et al., 1995 | CG>CA | |
| 40 | 5933 C>T | EX3 | miss | 434 C>T | P145L | eye | skel | vasc | - | mild | responsive | Irish/German | Kozich et al., 1993 | CG>TG | ||
| 41 | 5941 G>A | EX3 | miss | Msp I-,BstN I+ | 442 G>A | G148R | nbs | nbs | nbs | nbs | asymptomatic | non | Japanese | Ohura,T.* | CG>CA | |
| 42 | 5950 G>A | EX3 | miss | 451 G>A | G151R | eye | skel | - | cns | - | - | African American | Shih, V.* | CG>CA | ||
| 43 | 5950 G>A | EX3 | miss | 451 G>A | G151R | - | skel | vasc | cns | - | - | African American | Shih, V.* | CG>CA | ||
| 44 | 6503 C>G | EX4 | miss | Sau3A I- | 456 C>G | I152M | eye | skel | vasc | cns | severe | partial | Dutch | Kluijtmans et al., 1998 | ||
| 45 | 6503 C>G | EX4 | miss | Sau3A I- | 456 C>G | I152M | eye | skel | vasc | cns | severe | partial | Dutch | Kluijtmans et al., 1998 | ||
| 46 | 6503 C>G | EX4 | miss | Sau3A I- | 456 C>G | I152M | - | skel | - | - | mild | responsive | Dutch | Kluijtmans et al., 1999 | ||
| 47 | 6510 G>A | EX4 | miss | Sau96 I+ | 463 G>A | A155T | eye | skel | - | cns | mild | partial | Czech | Janosik et al., 2001 | 430G>A;[E144K] | |
| 48 | 6541 G>A | EX4 | miss | BsoF I- | 494 G>A | C165Y | eye | skel | - | cns | severe | non | Dutch | Kluijtmans et al., 1999 | ||
| 49 | 6541 G>A | EX4 | miss | BsoF I- | 494 G>A | C165Y | eye | skel | - | cns | severe | non | Dutch | Kluijtmans et al., 1999 | ||
| 50 | 6541 G>A | EX4 | miss | BsoF I- | 494 G>A | C165Y | - | - | - | - | mild | responsive | Dutch | Kluijtmans et al., 1995 | ||
| 51 | 6541 G>A | EX4 | miss | BsoF I- | 494 G>A | C165Y | eye | skel | vasc | cns | moderate | responsive | Dutch | Kluijtmans et al., 1999 | ||
| 52 | 6541 G>A | EX4 | miss | BsoF I- | 494 G>A | C165Y | eye | skel | - | - | moderate | non | South African | Gordon et al., 1997 | ||
| 53 | 6549 G>A | EX4 | miss | 502 G>A | V168M | - | - | - | - | - | - | n.d. | Kruger and Cox,1995 | CG>CA | ||
| 54 | 6573 G>A | EX4 | miss | BstX I+ | 526 G>A | E176K | eye | skel | - | cns | severe | non | Slovak | Kozich et al., 1997a | CG>CA | |
| 55 | 6573 G>A | EX4 | miss | BstX I+ | 526 G>A | E176K | eye | skel | - | cns | severe | non | Slovak | Kozich et al., 1997a | CG>CA | |
| 56 | 6681 T>C | EX5 | miss | 539 T>C | V180A | eye | skel | - | cns | - | responsive | Dutch | Kluijtmans et al., 1999 | |||
| 57 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | - | - | cns | moderate | non | Spanish | Kluijtmans, L.* | CG>TG | |
| 58 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | - | - | cns | moderate | non | Spanish | Kluijtmans, L.* | CG>TG | |
| 59 | 6735 A>T | EX5 | miss | 593 A>T | D198V | eye | skel | - | - | - | non | Irish/Italian, Scandinavian | Shih, V.* | |||
| 60 | 6927 G>A | EX6 | miss | 671 G>A | R224H | - | - | - | - | - | - | n.d. | Kruger and Cox,1995 | CG>CA | ||
| 61 | 6932 G>A | EX6 | miss | 676 G>A | A226T | nbs | nbs | nbs | nbs | asymptomatic | responsive | African American | Shan and Kruger,1998 | CG>CA | ||
| 62 | 6940 C>G | EX6 | miss | 684 C>G | N228K | - | - | - | - | asymptomatic | - | Irish | Gallagher et al., 1998 | |||
| 63 | 6956 G>A | EX6 | miss | 700 G>A | D234N | eye | skel | - | cns | - | non | Puerto3 Rican | Shih, V.* | CG>CA | ||
| 64 | 6971 G>A | EX6 | miss | 715 G>A | E239K | - | - | vasc | - | mild | responsive | Irish | de Franchis et al., 1994 | |||
| 65 | 8238 C>T | EX7 | miss | Nla III+ | 770 C>T | T257M | eye | skel | - | cns | moderate | non | Italian | Sebastio et al., 1995 | CG>TG | |
| 66 | 8238 C>T | EX7 | miss | Nla III+ | 770 C>T | T257M | eye | skel | - | cns | moderate | non | Italian | Sebastio et al., 1995 | CG>TG | |
| 67 | 8243 G>A | EX7 | miss | 775 G>A | G259S | - | - | - | - | - | - | Japanese | Chen et al. 1999 | CG>CA | ||
| 68 | 8253 C>T | EX7 | miss | 785 C>T | T262M | - | - | - | cns | mild | - | Italian | Shih, V.* | CG>TG | ||
| 69 | 8253 C>T | EX7 | miss | 785 C>T | T262M | - | - | - | cns | mild | - | Italian | Shih, V.* | CG>TG | ||
| 70 | 8253 C>T | EX7 | miss | 785 C>T | T262M | eye | skel | - | cns | moderate | non | Ir, Fr/Engl, Fr | Shih, V.* | CG>TG | ||
| 71 | 8253 C>T | EX7 | miss | 785 C>T | T262M | - | - | - | - | asymptomatic | - | Norwegian/Irish/German | Shih, V.* | CG>TG | ||
| 72 | 8253 C>T | EX7 | miss | 785 C>T | T262M | eye | skel | - | cns | moderate | non | Norwegian | Kim et al. 1997 | CG>TG | ||
| 73 | 8253 C>T | EX7 | miss | 785 C>T | T262M | eye | skel | - | cns | moderate | non | Norwegian | Kim et al. 1997 | CG>TG | ||
| 74 | 8265 G>A | EX7 | miss | 797 G>A | R266K | eye | - | - | - | mild | responsive | Norwegian | Kim et al., 1997 | |||
| 75 | 8265 G>A | EX7 | miss | 797 G>A | R266K | eye | - | - | - | mild | responsive | Norwegian | Kim et al., 1997 | |||
| 76 | 8265 G>A | EX7 | miss | 797 G>A | R266K | eye | - | - | - | mild | responsive | Norwegian | Kim et al., 1997 | |||
| 77 | 8265 G>A | EX7 | miss | 797 G>A | R266K | eye | - | vasc | cns | mild | responsive | Norwegian | Kim et al., 1997 | |||
| 78 | 8265 G>A | EX7 | miss | 797 G>A | R266K | eye | - | vasc | - | - | responsive | Norwegian | Kim et al., 1997 | |||
| 79 | 8265 G>A | EX7 | miss | 797 G>A | R266K | eye | - | - | - | mild | responsive | Norwegian | Kim et al., 1997 | |||
| 80 | 8265 G>A | EX7 | miss | 797 G>A | R266K | eye | - | - | - | mild | responsive | Norwegian | Kim et al., 1997 | |||
| 81 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | - | mild | responsive | Jewish | Kozich and Kraus,1992 | ||
| 82 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | - | - | - | mild | responsive | Polish | Shih et al. 1995 | ||
| 83 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | - | - | - | mild | responsive | Polish | Shih et al. 1995 | ||
| 84 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | - | - | - | mild | responsive | German/Norwegian | Shih et al. 1995 | ||
| 85 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | - | - | - | mild | responsive | German/Norwegian | Shih et al. 1995 | ||
| 86 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | asymptomatic | responsive | Jewish | Shih V. * | ||
| 87 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | asymptomatic | responsive | Italian/Irish | Shih et al. 1995 | ||
| 88 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | - | moderate | responsive | German/English | Shih et al., 1995 | ||
| 89 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | vasc | cns | - | responsive | Portug/Dutch/Jew | Shih et al. 1995 | ||
| 90 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | - | mild | responsive | Italian | Sebastio G.* | ||
| 91 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | Italian/French | Kozich and Kraus,1992 | ||
| 92 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | Italian | Sebastio G.* | ||
| 93 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | - | - | - | mild | responsive | Italian | Sperandeo et al., 1996a | ||
| 94 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | - | mild | responsive | Italian | Sebastio et al. 1995 | ||
| 95 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | - | mild | responsive | Italian | Sebastio et al. 1995 | ||
| 96 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | vasc | cns | moderate | responsive | Dutch | Kluijtmans et al. 1999 | ||
| 97 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | - | - | responsive | Dutch | Kluijtmans L.A.J.* | ||
| 98 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | - | moderate | responsive | Dutch | Kluijtmans et al. 1999 | ||
| 99 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | vasc | cns | severe | responsive | Dutch | Kluijtmans et al. 1999 | ||
| 100 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | vasc | cns | severe | responsive | Dutch | Kluijtmans et al. 1999 | ||
| 101 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | vasc | - | severe | responsive | Dutch | Kluijtmans et al. 1999 | ||
| 102 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | vasc | - | severe | responsive | Dutch | Kluijtmans et al. 1999 | ||
| 103 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | - | moderate | responsive | Dutch | Kluijtmans et al. 1999 | ||
| 104 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | cns | moderate | partial | Dutch | Kluijtmans et al. 1999 | ||
| 105 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | cns | moderate | partial | Dutch | Kluijtmans et al. 1999 | ||
| 106 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | vasc | - | moderate | responsive | Dutch | Kluijtmans et al. 1999 | ||
| 107 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | vasc | - | severe | responsive | Dutch | Kozich and Kraus,1992 | ||
| 108 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | vasc | - | severe | responsive | Dutch | Kozich and Kraus,1992 | ||
| 109 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | vasc | - | mild | responsive | Italian | Sebastio et al., 1995 | ||
| 110 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | mild | responsive | Dutch | Kluijtmans et al. 1999 | ||
| 111 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | mild | responsive | Dutch | Kluijtmans et al. 1999 | ||
| 112 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | - | mild | partial | Dutch | Kluijtmans et al. 1999 | ||
| 113 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | - | mild | partial | Dutch | Kluijtmans et al. 1999 | ||
| 114 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | skel | - | - | mild | responsive | Dutch | Kluijtmans et al., 1999 | ||
| 115 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | mild | responsive | Dutch | Kluijtmans L.A.J.* | ||
| 116 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | mild | responsive | Dutch | Kluijtmans L.A.J.* | ||
| 117 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | cns | severe | responsive | Dutch | Kluijtmans L.A.J.* | ||
| 118 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | cns | severe | responsive | Dutch | Kluijtmans L.A.J.* | ||
| 119 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | ? | Kozich and Kraus,1992 | ||
| 120 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | mild | responsive | Germ/Engl | Tsai et al. 1997b | ||
| 121 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | mild | responsive | Ital/Pol | Tsai et al. 1997b | ||
| 122 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | - | - | - | mild | responsive | ? | Tsai et al. 1996 | ||
| 123 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | responsive | Welsh | Tsai et al. 1996 | ||
| 124 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | - | vasc | - | severe | responsive | ? | Tsai M.Y. * | ||
| 125 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | - | - | - | mild | responsive | ? | Tsai et al. 1996 | ||
| 126 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | - | - | - | mild | responsive | ? | Tsai et al. 1996 | ||
| 127 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | - | severe | partial | Australian | Dawson et al.,1997 | ||
| 128 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | cns | moderate | partial | Czech | Janosik et al., 2001 | ||
| 129 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | cns | mild | responsive | Czech | Janosik et al., 2001 | ||
| 130 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | cns | mild | partial | Czech | Janosik et al., 2001 | ||
| 131 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | - | vasc | - | mild | responsive | Czech | Janosik et al., 2001 | ||
| 132 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | - | vasc | - | mild | responsive | Czech | Janosik et al., 2001 | ||
| 133 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | Hungarian | Kozich V.* | ||
| 134 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | moderate | responsive | Norwegian | Kim et al. 1997 | ||
| 135 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | - | - | non | Norwegian | Kim et al. 1997 | ||
| 136 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | - | mild | responsive | German | Linnebank, M.* | ||
| 137 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | - | vasc | - | mild | responsive | German | Linnebank, M.* | ||
| 138 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | - | vasc | - | mild | responsive | German | Linnebank, M.* | ||
| 139 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | - | - | - | mild | responsive | German | Linnebank, M.* | ||
| 140 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | - | - | - | mild | responsive | German | Linnebank, M.* | ||
| 141 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | - | vasc | cns | moderate | partial | Danish | Gaustadnes et al., 1998 | ||
| 142 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | vasc | - | moderate | - | Danish | MacLean et al., 2002 | ||
| 143 | 9158 C>T | EX8 | miss | Alu I+ | 869 C>T | P290L | - | - | - | - | moderate | responsive | Spanish | Sperandeo et al., 1995 | CG>TG | |
| 144 | 9193 G>A | EX8 | miss | 904 G>A | E302K | eye | skel | vasc | cns | severe | responsive | Italian | de Franchis et al., 1999 | CG>CA | ||
| 145 | 9202 G>A | EX8 | miss | 913 G>A | G305R | eye | - | - | - | mild | responsive | Italian | Sperandeo et al., 1996a | |||
| 146 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | Irish | Kraus J. P.* | CG>CA | |
| 147 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | Irish | Kraus J.P. * | CG>CA | |
| 148 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | eye | skel | vasc | cns | severe | non | Irish | Hu et al., 1993 | CG>CA | |
| 149 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | eye | skel | vasc | cns | severe | non | Irish | Hu et al., 1993 | CG>CA | |
| 150 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | eye | skel | - | cns | moderate | non | Irish | Hu et al., 1993 | CG>CA | |
| 151 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | eye | skel | - | cns | moderate | non | Irish | Hu et al., 1993 | CG>CA | |
| 152 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | German/French, Dutch, Irish, English | Hu et al., 1993 | CG>CA | |
| 153 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | English, Irish, German/Italian, German | Hu et al., 1993 | CG>CA | |
| 154 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | English/Scotish | Hu et al., 1993 | CG>CA | |
| 155 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | Irish, Jewish/Ukrainien, Jewish | Hu et al., 1993 | CG>CA | |
| 156 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | asymptomatic | - | French/Scottish, French | Hu et al., 1993 | CG>CA | |
| 157 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | eye | skel | - | - | severe | non | Irish | Gordon R.* | CG>CA | |
| 158 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | eye | skel | - | - | severe | non | Irish | Gordon R.* | CG>CA | |
| 159 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | English | de-Franchis et al. 1999 | CG>CA | |
| 160 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | Irish | Gallager et al. 1998 | CG>CA | |
| 161 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | Irish. | Gallager et al. 1998 | CG>CA | |
| 162 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | Irish | Gallager et al. 1998 | CG>CA | |
| 163 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | Irish | Gallager et al. 1998 | CG>CA | |
| 164 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | Irish | Gallager et al. 1998 | CG>CA | |
| 165 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | Irish | Gallager et al. 1998 | CG>CA | |
| 166 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | Irish | Gallager et al. 1998 | CG>CA | |
| 167 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | Irish | Gallager et al. 1998 | CG>CA | |
| 168 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | Irish | Gallager et al. 1998 | CG>CA | |
| 169 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | Irish | Gallager et al. 1998 | CG>CA | |
| 170 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | Irish | Gallager et al. 1998 | CG>CA | |
| 171 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | Irish | Gallager et al. 1998 | CG>CA | |
| 172 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | Irish | Gallager et al. 1998 | CG>CA | |
| 173 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | Irish | Gallager et al. 1998 | CG>CA | |
| 174 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | Irish | Gallager et al. 1998 | CG>CA | |
| 175 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | Irish | Gallager et al. 1998 | CG>CA | |
| 176 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | Irish | Gallager et al. 1998 | CG>CA | |
| 177 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | Irish | Gallager et al. 1998 | CG>CA | |
| 178 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | Irish | Gallager et al. 1998 | CG>CA | |
| 179 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | Irish | Gallager et al. 1998 | CG>CA | |
| 180 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | Irish | Gallager et al. 1998 | CG>CA | |
| 181 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | Irish | Gallager et al. 1998 | CG>CA | |
| 182 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | Irish | Gallager et al. 1998 | CG>CA | |
| 183 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | Norwegian | Gallager P.M.* | CG>CA | |
| 184 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | eye | skel | - | cns | - | - | Irish | Shih V.* | CG>CA | |
| 185 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | Port/Brazil | Shih V.* | CG>CA | |
| 186 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | Port/Brazil | Shih V. * | CG>CA | |
| 187 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | Portuguese | Shih V.* | CG>CA | |
| 188 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | eye | skel | - | cns | moderate | non | Ir, Fr/Engl, Fr | Shih, V.* | CG>CA | |
| 189 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | ? | Shih V.* | CG>CA | |
| 190 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | ? | Shih V.* | CG>CA | |
| 191 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | non | Af. Am. | Shih V.* | CG>CA | |
| 192 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | asymptomatic | - | English | Shih V.* | CG>CA | |
| 193 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | Australian | Gordon R.* | CG>CA | |
| 194 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | Australian | Gordon R.* | CG>CA | |
| 195 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | ? | Kruger W. * | CG>CA | |
| 196 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | ? | Kruger W.* | CG>CA | |
| 197 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | moderate | responsive | English, Irish, Dutch, German | Tsai et al., 1997a | CG>CA | |
| 198 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | eye | skel | - | cns | severe | non | ? | Tsai et al. 1996 | CG>CA | |
| 199 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | eye | skel | - | cns | severe | non | ? | Tsai et al. 1996 | CG>CA | |
| 200 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | severe | non | ? | Tsai et al. 1996 | CG>CA | |
| 201 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | severe | non | ? | Tsai et al. 1996 | CG>CA | |
| 202 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | ? | Tsai M.Y. * | CG>CA | |
| 203 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | eye | - | - | cns | moderate | non | Norwegian | Kim et al., 1997 | CG>CA | |
| 204 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | vasc | - | mild | non | Norwegian | Kim et al., 1997 | CG>CA | |
| 205 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | eye | - | vasc | - | moderate | non | Norwegian | Kim et al., 1997 | CG>CA | |
| 206 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | eye | - | vasc | - | moderate | non | Norwegian | Kim et al., 1997 | CG>CA | |
| 207 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | asymptomatic | non | Irish | Gallagher et al., 1998 | CG>CA | |
| 208 | 9804 T>C | EX9 | miss | 959 T>C | V320A | eye | - | - | cns | moderate | non | Norwegian | Kim et al., 1997 | |||
| 209 | 9804 T>C | EX9 | miss | 959 T>C | V320A | - | - | vasc | - | mild | non | Norwegian | Kim et al., 1997 | |||
| 210 | 9837 C>A | EX9 | miss | Hinf I+ | 992 C>A | A331E | - | - | - | - | - | - | Australian | Dawson et al.,1997 | ||
| 211 | 9837 C>T | EX9 | miss | 992 C>T | A331V | - | - | - | - | - | - | n.d. | Kruger and Cox,1995 | CG>TG | ||
| 212 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | English | de Franchis et al.,1999 | CG>TG; * | ||
| 213 | 9852 G>A | EX9 | miss | Sph I- | 1007 G>A | R336H | eye | - | - | cns | mild | responsive | North African | Coude et al., 1998 | CG>CA; * | |
| 214 | 9852 G>A | EX9 | miss | Sph I- | 1007 G>A | R336H | eye | - | - | cns | mild | responsive | North African | Coude et al., 1998 | CG>CA; * | |
| 215 | 11661 G>A | EX10 | miss | 1055 G>A | S352N | eye | skel | - | cns | moderate | non | Haitian | Shih, V.* | |||
| 216 | 11664 C>T | EX10 | miss | 1058 C>T | T353M | eye | skel | - | - | severe | partial | Australian | Dawson et al.,1997 | CG>TG | ||
| 217 | 11664 C>T | EX10 | miss | 1058 C>T | T353M | nbs | nbs | nbs | nbs | asymptomatic | responsive | African American | Shan and Kruger,1998 | CG>TG | ||
| 218 | 11666 G>A | EX10 | miss | 1060 G>A | V354M | eye | skel | - | cns | - | non | Portuguese | Coude et al., 1998 | |||
| 219 | 11669G>C | EX10 | miss | 1063G>C | A355P | - | - | - | - | - | - | Irish | Gallagher et al., 1998 | |||
| 220 | 11687 G>A | EX10 | miss | Hha I- | 1081G>A | A361T | eye | skel | vasc | - | severe | non | Portuguese | Castro et al., 1999 | CG>CA | |
| 221 | 11687 G>A | EX10 | miss | Hha I- | 1081G>A | A361T | eye | skel | vasc | - | severe | non | Portuguese | Castro et al., 1999 | CG>CA | |
| 222 | 11711 C>T | EX10 | miss | Hha I- | 1105 C>T | R369C | - | - | - | - | moderate | responsive | Norwegian | Kim et al., 1997 | CG>TG; * | |
| 223 | 11711 C>T | EX10 | miss | Hha I- | 1105 C>T | R369C | eye | skel | vasc | cns | severe | responsive | Dutch | Kluijtmans et al., 1999 | 1471 C>T [R491C] | CG>TG; * |
| 224 | 11712 G>A | EX10 | miss | 1106 G>A | R369H | - | - | - | - | - | - | Irish | Valle,D.* | CG>CA; * | ||
| 225 | 11712 G>A | EX10 | miss | 1106 G>A | R369H | - | - | - | - | - | - | Irish | Valle,D.* | CG>CA; * | ||
| 226 | 11715 G>A | EX10 | miss | Mae II+ | 1109 G>A | C370Y | - | - | - | - | mild | responsive | It/Pol | Tsai et al., 1997b | ||
| 227 | 11717 G>A | EX10 | miss | 1111 G>A | V371M | eye | skel | - | - | moderate | responsive | Dutch | Kluijtmans et al.,1999 | CG>CA | ||
| 228 | 11717 G>A | EX10 | miss | 1111 G>A | V371M | eye | skel | vasc | - | moderate | responsive | Dutch | Kluijtmans et al.,1999 | CG>CA | ||
| 229 | 12888 A>G | EX11 | miss | 1150 A>G | K384E | eye | skel | vasc | - | severe | responsive | French | Aral et al., 1997 | |||
| 230 | 12888 A>G | EX11 | miss | 1150 A>G | K384E | eye | skel | vasc | - | severe | responsive | French | Aral et al., 1997 | |||
| 231 | 12890 G>C | EX11 | miss | 1152 G>C | K384N | eye | skel | - | cns | moderate | partial | Lebanese | Linnebank, M.* | |||
| 232 | 12890 G>C | EX11 | miss | 1152 G>C | K384N | eye | skel | - | cns | moderate | partial | Lebanese | Linnebank, M.* | |||
| 233 | 12911 G>T | EX11 | miss | 1173 G>T | M391I | eye | skel | - | cns | - | non | German | Linnebank, M.* | |||
| 234 | 13296 C>A | EX12 | miss | 1301 C>A | T434N | - | skel | - | - | mild | partial | Dutch | Kluijtmans et al., 1998 | |||
| 235 | 13299T>C | EX12 | miss | 1304T>C | I435T | eye | - | - | cns | moderate | - | Danish | MacLean et al., 2002 | |||
| 236 | 13311 G>A | EX12 | miss | EcoR II+, Msp I- | 1316 G>A | R439Q | - | - | - | - | mild | responsive | Engl/Germ | Tsai et al. 1997b | CG>CA | |
| 237 | 13311 G>A | EX12 | miss | EcoR II+, Msp I- | 1316 G>A | R439Q | eye | skel | - | cns | mild | partial | Australian | Dawson et al.,1997 | 430 G>A; [E144K] | CG>CA |
| 238 | 13325 G>A | EX12 | miss | Taq I- | 1330 G>A | D444N | - | skel | - | - | mild | partial | Dutch | Kluijtmans et al., 1996 | CG>CA | |
| 239 | 13325 G>A | EX12 | miss | Taq I- | 1330 G>A | D444N | - | skel | - | - | mild | partial | Dutch | Kluijtmans et al., 1996 | CG>CA | |
| 240 | 13325 G>A | EX12 | miss | Taq I- | 1330 G>A | D444N | - | skel | vasc | - | responsive | Venezuelan | Shih V.* | CG>CA | ||
| 241 | 13325 G>A | EX12 | miss | Taq I- | 1330 G>A | D444N | eye | skel | vasc | - | mild | partial | German | Linnebank, M..* | CG>CA | |
| 242 | 13325 G>A | EX12 | miss | Taq I- | 1330 G>A | D444N | eye | skel | - | - | mild | - | Danish | MacLean et al., 2002 | CG>CA | |
| 243 | 13972 C>T | EX13 | miss | 1397C>T | S466L | - | - | vasc | - | moderate | - | Danish | MacLean et al., 2002 | CG>TG | ||
| 244 | 15304 C>T | EX14 | miss | Bgl II+ | 1471 C>T | R491C | eye | skel | vasc | cns | severe | responsive | Dutch | Kluijtmans et al., 1998 | 1105 C>T [R369C] | CG>TG |
| 245 | 18255 T>A | EX16 | miss | 1601 T>A | V534D | - | - | - | - | - | - | French | Coude et al., 1995 | |||
| 246 | 18270 T>C | EX16 | miss | 1616 T>C | L539S | eye | skel | vasc | cns | severe | responsive | French | Aral et al., 1997 | |||
| 247 | 18270 T>C | EX16 | miss | 1616 T>C | L539S | eye | skel | vasc | cns | severe | responsive | French | Aral et al., 1997 | |||
| 248 | 12908 G>A | EX11 | nons | 1170 G>A | W390X | eye | skel | - | - | moderate | - | Fr.Canadien/Engl | Shih, V.* | |||
| 249 | 13221 G>A | EX12 | nons | Bsl I- | 1226 G>A | W409X | eye | skel | - | cns | severe | non | Slovak | Janosik et al., 2001 | ||
| 250 | 13254 C>G | EX12 | nons | 1259C>G | S420X | eye | skel | - | cns | - | - | North African | Coude et al., 1998 | |||
| 251 | 13316 A>T | EX12 | nons | 1321 A>T | K441X | - | - | - | - | - | - | Japanese | Chen et al. 1999 | |||
| 252 | 19insC | EX1 | ins | 19insC | fs, stop at aa 36 | eye | skel | - | cns | severe | non | Slovak | Kozich et al., 1997b | |||
| 253 | 19insC | EX1 | ins | 19insC | fs, stop at aa 36 | eye | skel | - | cns | severe | non | Slovak | Kozich et al., 1997b | |||
| 254 | 13221 G>A | EX12 | nons | Bsl I- | 1226 G>A | W409X | - | skel | vasc | cns | severe | partial | Czech | Janosik et al., 2001 | ||
| 255 | 210 G>A | IN1 | del | IVS1+1G>A | del ex1 or 153del57 | eye | skel | - | cns | severe | non | English/Welsh | Gordon et al., 1997 | |||
| 256 | 3680 C>G | EX2 | del | 313 C>G | 313del4, fs | eye | skel | - | - | moderate | - | FrCan/Engl. | Shih, V.* | |||
| 257 | n.d. | n.d. | del | 452del 80 | del ex 4 | eye | skel | - | cns | moderate | non | Haitian | Shih, V.* | |||
| 258 | 210 G>A | IN1 | del | IVS1+1G>A | del ex1 or 153del57 | - | - | - | - | - | - | Brazilian | Linnebank, M.* | |||
| 259 | 6540del22 | EX4 | del | 493del22 | fs,del aa 165-172 | eye | - | vasc | cns | moderate | partial | Danish | Gaustadnes et al., 1998 | |||
| 260 | 6643del29 | IN4 | del | IVS4-31del 29 | del ex 5 | eye | - | vasc | - | severe | - | Arabian | Kozich et al., 1997b | 304 A>C; [K102Q] | ||
| 261 | n.d. | n.d. | del | 533 del 18 | del aa 179-184 | eye | skel | vasc | cns | moderate | partial | German/Polish,French | Shih et al. 1995 | |||
| 262 | n.d. | n.d. | del | 739del 30 | del aa 247-256 | eye | skel | vasc | cns | severe | non | German | Koch et al., 1994 | |||
| 263 | 8276del3 | EX7 | del | 808del3 | del E270 | eye | skel | - | cns | - | non | German | Koch et al., 1994 | |||
| 264 | 8297 G>A | IN7 | splicing | IVS7+1 G>A | 828ins104, 737del92 | eye | skel | - | cns | severe | non | Czech | Janosik et al., 2001 | IVS11+39del99 [n.d.] | ||
| 265 | 9244G>A | IN8 | other | IVS8+1G>A | del ex 8 | eye | - | - | cns | moderate | - | Danish | MacLean et al., 2002 | |||
| 266 | n.d. | n.d. | other | 955del85 | del ex 9 | - | - | - | - | - | - | Japanese | Chen et al. 1999 | |||
| 267 | 13000del99 | IN11 | del | IVS11+39del99 | n.d. | eye | skel | - | cns | severe | non | Czech | Janosik et al., 2001 | IVS7+1 G>A [828ins104, 737del92] | ||
| 268 | 13130del49 | IN11 | del | IVS11-89del49 | n.d. | eye | skel | - | - | - | responsive | Italian | Sperandeo et al., 1995 | 146 C>T; [P49L] | ||
| 269 | n.d. | n.d. | other | 1146 del 78 | del ex 11 | - | - | - | - | - | - | n.d. | Kruger and Cox,1995 | |||
| 270 | 13217 A>C | IN11 | del | Msp I+ | IVS11-2 A>C | del ex 12 | eye | skel | - | cns | severe | non | Czech | Janosik et al., 2001 | ||
| 271 | 13217 A>C | IN11 | del | Msp I+ | IVS11-2 A>C | del ex 12 | eye | skel | - | cns | severe | non | Slovak | Janosik et al., 2001 | ||
| 272 | 13217 A>C | IN11 | del | Msp I+ | IVS11-2 A>C | del ex 12 | eye | skel | - | cns | moderate | partial | Slovak | Janosik et al., 2001 | ||
| 273 | 13217 A>C | IN11 | del | Msp I+ | IVS11-2 A>C | del ex 12 | eye | skel | - | cns | severe | non | Slovak | Janosik et al., 2001 | ||
| 274 | 13217 A>C | IN11 | del | Msp I+ | IVS11-2 A>C | del ex 12 | eye | skel | - | cns | moderate | partial | Czech | Janosik et al., 2001 | ||
| 275 | 13217 A>C | IN11 | del | Msp I+ | IVS11-2 A>C | del ex 12 | eye | skel | vasc | cns | severe | non | German | Koch et al., 1994 | ||
| 276 | 13217 A>C | IN11 | del | Msp I+ | IVS11-2 A>C | del ex 12 | eye | skel | - | - | mild | responsive | Jewish | Kozich and Kraus,1992 | ||
| 277 | 13217 A>C | IN11 | del | Msp I+ | IVS11-2 A>C | del ex 12 | eye | - | vasc | - | severe | responsive | ? | Tsai M.Y. * | ||
| 278 | 13217 A>C | IN11 | del | Msp I+ | IVS11-2 A>C | del ex 12 | eye | skel | vasc | cns | severe | non | German | Koch et al. 1994 | ||
| 279 | 13217 A>C | IN11 | del | Msp I+ | IVS11-2 A>C | del ex 12 | eye | skel | vasc | cns | severe | non | German | Koch et al. 1994 | ||
| 280 | 13217 A>C | IN11 | del | Msp I+ | IVS11-2 A>C | del ex 12 | - | skel | - | - | mild | - | Austrian | Linnebank, M.* | ||
| 281 | 13217 A>C | IN11 | del | Msp I+ | IVS11-2 A>C | del ex 12 | eye | skel | - | cns | moderate | non | Turkish | Linnebank, M.* | ||
| 282 | 13554 G>A | IN12 | del | Sau3A I+ | IVS 12+1 G>A | del ex 12 | - | - | - | - | moderate | responsive | English, Irish, Dutch, German | Tsai et al., 1997a | ||
| 283 | 13933 G>C | IVS12 | splicing | IVS12-1 G>C | del exon 13 | - | skel | - | cns | severe | non | Turkish | Linnebank, M.* | |||
| 284 | 13933 G>C | IVS12 | splicing | IVS12-1 G>C | del exon 13 | - | skel | - | cns | severe | non | Turkish | Linnebank, M.* | |||
| 285 | 18213insACCACAG | EX16 | other | 1559insACCACAG | S520R, fs, stop at aa540 | eye | - | vasc | cns | - | n.d. | S. Afr. Black | Ben de Wet JM* | |||
| 286 | 18220delG | EX16 | del | NciI- | 1566delG | fs, stop at aa 540 | eye | skel | vasc | - | severe | partial | Portuguese | Castro et al., 1999 | ||
| 287 | 18220delG | EX16 | del | NciI- | 1566delG | fs, stop at aa 540 | eye | skel | vasc | - | severe | non | Portuguese | Castro et al., 1999 | ||
| 288 | 18220delG | EX16 | del | NciI- | 1566delG | fs, stop at aa 540 | eye | skel | vasc | - | severe | non | Portuguese | Castro et al., 1999 | ||
| 289 | 18244del4 | EX16 | del | 1590del4 | 1590delGTTC, fs | - | - | - | - | - | - | Japanese | Chen et al. 1999 | |||
| 290 | 18245del4 | EX16 | del | 1591del4 | 1591delTTCG, fs | - | - | - | - | - | - | Japanese | Ohura,T.* | |||
| 291 | 18276ins4 | EX16 | ins | 1622ins4 | 1622insTGGA, fs | eye | skel | - | - | moderate | non | South African | Gordon et al., 1997 | |||
| 292 | 18281del19 | EX16 | del | Sau96I- | 1627del19 | fs, stop at aa 568 | - | - | - | - | severe | - | Arabian | Kozich et al., 1997b | ||
| 293 | 18281del19 | EX16 | del | Sau96I- | 1627del19 | fs, stop at aa 568 | - | - | - | - | severe | - | Arabian | Kozich et al., 1997b | ||
| 294 | 3600 C>G | EX2 | miss | 233 C>G | P78R | - | skel | vasc | cns | severe | responsive | Irish | de Franchis et al., 1994 | |||
| 295 | 6971 G>A | EX6 | miss | 715 G>A | E239K | - | skel | vasc | cns | severe | responsive | Irish | de Franchis et al., 1994 | |||
| 296 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | vasc | cns | severe | responsive | Italian | Sebastio G.* | ||
| 297 | 5892 G>C | EX3 | miss | 393 G>C | E131D | - | - | - | - | moderate | non | Irish | Marble et al.,1994 | 374 G>A; [R125Q] | ||
| 298 | 8265 G>A | EX7 | miss | 797 G>A | R266K | eye | - | - | - | mild | responsive | Norwegian | Kim et al., 1997 | |||
| 299 | 8265 G>A | EX7 | miss | 797 G>A | R266K | eye | - | vasc | cns | mild | responsive | Norwegian | Kim et al., 1997 | |||
| 300 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | - | moderate | responsive | Dutch | Kluijtmans et al. 1999 | ||
| 301 | 3629 C>T | EX2 | miss | Mnl I+ | 262 C>T | P88S | eye | skel | - | - | mild | responsive | Italian | Sebastio et al., 1995 | ||
| 302 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | - | mild | responsive | Italian | Sebastio et al., 1995 | ||
| 303 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | - | mild | partial | Dutch | Kluijtmans et al. 1999 | ||
| 304 | 6510 G>A | EX4 | miss | Sau96 I+ | 463 G>A | A155T | eye | skel | - | cns | mild | partial | Czech | Janosik et al., 2001 | 430G>A;[E144K] | |
| 305 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | cns | moderate | responsive | Norwegian | Kim et al. 1997 | ||
| 306 | 11711 C>T | EX10 | miss | Hha I- | 1105 C>T | R369C | - | - | - | cns | moderate | responsive | Norwegian | Kim et al., 1997 | CG>TG; * | |
| 307 | 9193 G>A | EX8 | miss | 904 G>A | E302K | eye | skel | vasc | cns | severe | responsive | Italian | de Franchis et al., 1999 | CG>CA | ||
| 308 | 5840 C>T | EX3 | miss | Mae II+ | 341 C>T | A114V | eye | skel | vasc | cns | severe | responsive | Italian | de Franchis et al., 1999 | CG>TG | |
| 309 | n.d. | n.d. | del | - | del bp 153-209 | del aa 52-70 | - | - | - | - | asymptomatic | - | French/Scottish, French | Hu et al., 1993 | ||
| 310 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | asymptomatic | non | English | de-Franchis et al. 1999 | CG>CA | |
| 311 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | asymptomatic | non | English | de-Franchis et al. 1999 | CG>TG; * | ||
| 312 | 3669 T>C | EX2 | miss | 302 T>C | L101P | - | - | - | - | - | - | Irish | Gallagher et al., 1998 | |||
| 313 | 8253 C>T | EX7 | miss | 785 C>T | T262M | - | - | - | - | - | - | Irish | Gallagher et al., 1998 | CG>TG | ||
| 314 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | Irish | Gallagher P.M.* | ||
| 315 | n.d. | n.d. | del | - | del ex 12, del ex 11 and | del ex 12, del ex 11 and | - | - | - | - | - | - | Japanese | Chen et al. 1999 | ||
| 316 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | vasc | cns | moderate | partial | German/Polish,French | Shih et al. 1995 | ||
| 317 | 5929 G>A | EX3 | miss | Taq I- | 430 G>A | E144K | eye | skel | - | cns | mild | partial | Czech | Janosik et al., 2001 | 463G>A;[A155T] | CG>CA |
| 318 | 5929 G>A | EX3 | miss | Taq I- | 430 G>A | E144K | eye | skel | - | cns | mild | partial | Czech | Janosik et al., 2001 | 463G>A;[A155T] | CG>CA |
| 319 | 5840 C>T | EX3 | miss | Mae II+ | 341 C>T | A114V | - | skel | vasc | cns | severe | partial | Czech | Kozich et al., 1997b | CG>TG | |
| 320 | 19insC | EX1 | ins | 19insC | fs, stop at aa 36 | eye | skel | - | cns | severe | non | Slovak | Janosik et al., 2001 | |||
| 321 | 6541 G>A | EX4 | miss | BsoF I- | 494 G>A | C165Y | eye | skel | - | cns | severe | non | Czech | Janosik et al., 2001 | ||
| 322 | 6541 G>A | EX4 | miss | BsoF I- | 494 G>A | C165Y | eye | skel | - | cns | severe | non | Czech | Janosik et al., 2001 | ||
| 323 | 28delG | EX1 | del | 28delG | fs, stop at aa 81 | eye | skel | vasc | cns | severe | non | Czech | Janosik et al., 2001 | |||
| 324 | 3576 G>C | IN1 | splicing | IVS1-1G>C | 210del26, fs stop at aa 9 | eye | skel | vasc | cns | severe | non | Czech | Janosik et al., 2001 | |||
| 325 | 194 A>G | EX1 | miss | 194 A>G | H65R | eye | skel | - | cns | severe | non | Czech | Janosik et al., 2001 | |||
| 326 | 6510 G>A | EX4 | miss | Sau96 I+ | 463 G>A | A155T | eye | skel | - | - | severe | non | Czech | Janosik et al., 2001 | 430G>A;[E144K] | |
| 327 | 5929 G>A | EX3 | miss | Taq I- | 430 G>A | E144K | eye | skel | - | - | severe | non | Czech | Janosik et al., 2001 | 463G>A;[A155T] | CG>CA |
| 328 | 13217 A>C | IN11 | del | Msp I+ | IVS11-2 A>C | del ex 12 | eye | skel | - | - | severe | non | Czech | Janosik et al., 2001 | ||
| 329 | 13217 A>C | IN11 | del | Msp I+ | IVS11-2 A>C | del ex 12 | eye | skel | - | cns | moderate | partial | Slovak | Janosik et al., 2001 | ||
| 330 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | cns | moderate | partial | Slovak | Janosik et al., 2001 | ||
| 331 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | - | vasc | - | mild | responsive | Czech | Janosik et al., 2001 | ||
| 332 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | - | vasc | - | mild | responsive | Czech | Janosik et al., 2001 | ||
| 333 | 5873 G>C | EX3 | miss | Hpa II+ | 374 G>C | R125P | eye | skel | vasc | - | severe | partial | Portugues | Castro et al., 1999 | CG>CC | |
| 334 | 28delG | EX1 | del | 28delG | fs, stop at aa 81 | eye | skel | vasc | cns | severe | non | Czech | Janosik et al., 2001 | |||
| 335 | 3576 G>C | IN1 | splicing | IVS1-1G>C | 210del26, fs stop at aa 9 | eye | skel | vasc | cns | severe | non | Czech | Janosik et al., 2001 | |||
| 336 | 13217 A>C | IN11 | del | Msp I+ | IVS11-2 A>C | del ex 12 | eye | skel | - | cns | moderate | partial | Slovak | Janosik et al., 2001 | ||
| 337 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | cns | moderate | partial | Slovak | Janosik et al., 2001 | ||
| 338 | 13260 C>T | EX12 | miss | 1265 C>T | P422L | - | - | vasc | - | mild | non | Danish | Maclean et al. 2002 | CG>TG | ||
| 339 | 13325 G>A | EX12 | miss | Taq I- | 1330 G>A | D444N | - | - | vasc | - | mild | non | Danish | Gaustadnes et al. 2000 | CG>CA | |
| 340 | 8253 C>G | EX7 | miss | 785 C>G | T262R | - | - | - | - | - | - | Arabic | Gat-Yablonski et al. 2000 | CG>GG | ||
| 341 | 18327del5 | EX17 | splicing | 1673del5 | n.d. | - | - | - | - | - | - | Arabic | Gat-Yablonski et al. 2000 | |||
| 342 | 11664 C>T | EX10 | miss | 1058 C>T | T353M | - | - | - | cns | - | non | African American | Kruger et al. 2003 | CG>TG | ||
| 343 | 11664 C>T | EX10 | miss | 1058 C>T | T353M | - | - | - | cns | - | non | African American | Kruger et al. 2003 | CG>TG | ||
| 344 | 11664 C>T | EX10 | miss | 1058 C>T | T353M | eye | - | vasc | cns | - | responsive | African American | Kruger et al. 2003 | CG>TG | ||
| 345 | 6932 G>A | EX6 | miss | 676 G>A | A226T | eye | - | vasc | cns | - | responsive | African American | Kruger et al. 2003 | CG>CA | ||
| 346 | 11664 C>T | EX10 | miss | 1058 C>T | T353M | - | - | vasc | - | - | non | African American | Kruger et al. 2003 | CG>TG | ||
| 347 | 11664 C>T | EX10 | miss | 1058 C>T | T353M | - | - | - | - | - | non | African American | Kruger et al. 2003 | CG>TG | ||
| 348 | 18230 C>A | EX16 | miss | 1576 C>A | Q526K | - | - | - | - | - | non | African American | Kruger et al. 2003 | |||
| 349 | 8204 G>C | IN6 | splicing | IVS6-1 G>C | n.d. | eye | - | vasc | cns | - | non | caucasian | Kruger et al. 2003 | |||
| 350 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | eye | - | vasc | cns | - | non | caucasian | Kruger et al. 2003 | CG>CA | |
| 351 | 6939 A>G | EX6 | miss | 683 A>G | N228S | eye | - | vasc | cns | - | non | caucasian | Kruger et al. 2003 | |||
| 352 | 11732 G>A | EX10 | miss | 1126 G>A | D376N | - | - | - | - | - | - | caucasian | Kruger et al. 2003 | CG>CA | ||
| 353 | 6947 G>C | EX6 | miss | 691 G>C | A231L | eye | - | - | - | - | partial | caucasian | Kruger et al. 2003 | |||
| 354 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | n.d. | Kraus, JP* | CG>CA | |
| 355 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | n.d. | Kraus, JP* | CG>CA | |
| 356 | 13325 G>A | EX12 | miss | Taq I- | 1330 G>A | D444N | - | - | - | - | - | - | n.d. | Kraus, JP* | CG>CA | |
| 357 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | - | - | cns | - | responsive | n.d. | Kraus, JP* | ||
| 358 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | n.d. | Kraus, JP* | ||
| 359 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | - | - | cns | - | non | n.d. | Kraus, JP* | ||
| 360 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | eye | - | - | cns | - | non | n.d. | Kraus, JP* | CG>CA | |
| 361 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | n.d. | Kraus, JP* | ||
| 362 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | non | n.d. | Kraus, JP* | CG>CA | |
| 363 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | non | n.d. | Kraus, JP* | CG>CA | |
| 364 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | cns | - | non | n.d. | Kraus, JP* | ||
| 365 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | non | n.d. | Kraus, JP* | ||
| 366 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | n.d. | Kraus, JP* | ||
| 367 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | n.d. | Kraus, JP* | ||
| 368 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | n.d. | Kraus, JP* | CG>CA | |
| 369 | 8253 C>T | EX7 | miss | 785 C>T | T262M | - | - | - | - | - | - | n.d. | Kraus, JP* | CG>TG | ||
| 370 | 8253 C>T | EX7 | miss | 785 C>T | T262M | - | - | - | - | - | - | n.d. | Kraus, JP* | CG>TG | ||
| 371 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | n.d. | Kraus, JP* | ||
| 372 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | n.d. | Kraus, JP* | ||
| 373 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | n.d. | Kraus, JP* | ||
| 374 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | n.d. | Kraus, JP* | ||
| 375 | 5873 G>A | EX3 | miss | Pst I+ | 374 G>A | R125Q | - | - | - | - | - | - | n.d. | Kraus, JP* | CG>CA | |
| 376 | 5873 G>A | EX3 | miss | Pst I+ | 374 G>A | R125Q | - | - | - | - | - | - | n.d. | Kraus, JP* | CG>CA | |
| 377 | 5840 C>T | EX3 | miss | Mae II+ | 341 C>T | A114V | - | - | - | - | - | - | n.d. | Kraus, JP* | CG>TG | |
| 378 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | n.d. | Kraus, JP* | ||
| 379 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | n.d. | Kraus, JP* | ||
| 380 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | n.d. | Kraus, JP* | CG>CA | |
| 381 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | n.d. | Kraus, JP* | ||
| 382 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | n.d. | Kraus, JP* | ||
| 383 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | n.d. | Kraus, JP* | ||
| 384 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | n.d. | Kraus, JP* | ||
| 385 | 8265 G>A | EX7 | miss | 797 G>A | R266K | - | - | - | - | - | - | n.d. | Kraus, JP* | |||
| 386 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | n.d. | Kraus, JP* | CG>CA | |
| 387 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | n.d. | Kraus, JP* | ||
| 388 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | n.d. | Kraus, JP* | ||
| 389 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | n.d. | Kraus, JP* | ||
| 390 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | - | - | cns | moderate | responsive | n.d. | Kraus, JP* | ||
| 391 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | eye | skel | - | cns | - | non | n.d. | Kraus, JP* | CG>CA | |
| 392 | 5929 G>A | EX3 | miss | Taq I- | 430 G>A | E144K | eye | skel | - | cns | - | non | n.d. | Kraus, JP* | CG>CA | |
| 393 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | - | - | - | - | responsive | n.d. | Kraus, JP* | ||
| 394 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | - | - | - | - | responsive | n.d. | Kraus, JP* | ||
| 395 | 5873 G>A | EX3 | miss | Pst I+ | 374 G>A | R125Q | - | - | - | - | - | partial | n.d. | Kraus, JP* | CG>CA | |
| 396 | 5873 G>A | EX3 | miss | Pst I+ | 374 G>A | R125Q | eye | skel | vasc | cns | - | partial | n.d. | Kraus, JP* | CG>CA | |
| 397 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | cns | - | non | n.d. | Kraus, JP* | ||
| 398 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | eye | skel | - | cns | - | non | n.d. | Kraus, JP* | CG>CA | |
| 399 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | vasc | - | - | responsive | n.d. | Kraus, JP* | ||
| 400 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | eye | - | - | - | - | responsive | n.d. | Kraus, JP* | CG>CA | |
| 401 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | - | n.d. | Kraus, JP* | CG>CA | |
| 402 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | eye | - | - | cns | - | non | anglo-celtic | Gaustadnes et al., 2002 | CG>CA | |
| 403 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | eye | - | - | cns | - | non | anglo-celtic | Gaustadnes et al., 2002 | CG>CA | |
| 404 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | eye | skel | - | cns | - | non | anglo-celtic | Gaustadnes et al., 2002 | CG>CA | |
| 405 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | eye | skel | - | cns | - | non | anglo-celtic | Gaustadnes et al., 2002 | CG>CA | |
| 406 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | eye | - | - | - | - | non | anglo-celtic | Gaustadnes et al., 2002 | CG>CA | |
| 407 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | eye | - | - | - | - | non | anglo-celtic | Gaustadnes et al., 2002 | CG>CA | |
| 408 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | eye | skel | - | cns | - | non | anglo-celtic | Gaustadnes et al., 2002 | CG>CA | |
| 409 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | vasc | - | - | non | anglo-celtic | Gaustadnes et al., 2002 | CG>CA | |
| 410 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | eye | skel | - | - | - | non | anglo-celtic | Gaustadnes et al., 2002 | CG>CA | |
| 411 | 6541 G>A | EX4 | miss | BsoF I- | 494 G>A | C165Y | eye | skel | - | - | - | non | anglo-celtic | Gaustadnes et al., 2002 | ||
| 412 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | - | - | - | - | - | non | anglo-celtic | Gaustadnes et al., 2002 | CG>CA | |
| 413 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | anglo-celtic | Gaustadnes et al., 2002 | CG>TG; * | ||
| 414 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | eye | skel | - | cns | - | non | anglo-celtic | Gaustadnes et al., 2002 | CG>CA | |
| 415 | n.d. | n.d. | del | 533 del 18 | del aa 179-184 | eye | skel | - | cns | - | - | anglo-celtic | Gaustadnes et al., 2002 | |||
| 416 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | skel | - | - | - | responsive | anglo-celtic | Gaustadnes et al., 2002 | ||
| 417 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | skel | - | - | - | responsive | anglo-celtic | Gaustadnes et al., 2002 | ||
| 418 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | - | - | - | - | responsive | anglo-celtic | Gaustadnes et al., 2002 | ||
| 419 | 3669 T>C | EX2 | miss | 302 T>C | L101P | eye | - | - | - | - | responsive | anglo-celtic | Gaustadnes et al., 2002 | |||
| 420 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | - | - | - | - | responsive | anglo-celtic | Gaustadnes et al., 2002 | ||
| 421 | 5824 T>C | EX3 | miss | 325 T>C | C109R | eye | - | - | - | - | responsive | anglo-celtic | Gaustadnes et al., 2002 | |||
| 422 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | skel | - | cns | - | responsive | anglo-celtic | Gaustadnes et al., 2002 | ||
| 423 | 9244G>A | IN8 | other | IVS8+1G>A | del ex 8 | - | skel | - | cns | - | responsive | anglo-celtic | Gaustadnes et al., 2002 | |||
| 424 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | - | - | responsive | anglo-celtic | Gaustadnes et al., 2002 | ||
| 425 | 210insC | IN1 | ins | IVS1+1insC | del ex 1 (?) | eye | skel | - | - | - | responsive | anglo-celtic | Gaustadnes et al., 2002 | |||
| 426 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | responsive | anglo-celtic | Gaustadnes et al., 2002 | ||
| 427 | 12959delC | EX11 | del | 1221delC | W408fsX423 | - | - | - | - | - | responsive | anglo-celtic | Gaustadnes et al., 2002 | |||
| 428 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | - | - | - | - | responsive | anglo-celtic | Gaustadnes et al., 2002 | ||
| 429 | 9884 G>A | EX9 | miss | 1039 G>A | G347S | eye | - | - | - | - | responsive | anglo-celtic | Gaustadnes et al., 2002 | CG>CA | ||
| 430 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | cns | - | responsive | anglo-celtic | Gaustadnes et al., 2002 | ||
| 431 | 5873 G>A | EX3 | miss | Pst I+ | 374 G>A | R125Q | eye | - | - | - | - | non | Portuguese | Gaustadnes et al., 2002 | CG>CA | |
| 432 | 5873 G>A | EX3 | miss | Pst I+ | 374 G>A | R125Q | eye | - | vasc | cns | - | non | Portuguese | Gaustadnes et al., 2002 | CG>CA | |
| 433 | 5929 G>A | EX3 | miss | Taq I- | 430 G>A | E144K | - | - | - | - | moderate | responsive | anglo-celtic | Gaustadnes et al., 2002 | CG>CA | |
| 434 | 146 C>T | EX1 | miss | Dde I+ | 146 C>T | P49L | - | - | - | - | moderate | responsive | anglo-celtic | Gaustadnes et al., 2002 | CG>TG | |
| 435 | 5929 G>A | EX3 | miss | Taq I- | 430 G>A | E144K | eye | - | - | cns | moderate | partial | anglo-celtic | Gaustadnes et al., 2002 | CG>CA | |
| 436 | 11717 G>A | EX10 | miss | 1111 G>A | V371M | eye | - | - | cns | moderate | partial | anglo-celtic | Gaustadnes et al., 2002 | CG>CA | ||
| 437 | 5929 G>A | EX3 | miss | Taq I- | 430 G>A | E144K | eye | skel | - | cns | - | non | anglo-celtic | Gaustadnes et al., 2002 | CG>CA | |
| 438 | 210 G>A | IN1 | del | IVS1+1G>A | del ex1 or 153del57 | eye | skel | - | cns | severe | non | anglo-celtic | Gaustadnes et al., 2002 | |||
| 439 | 5929 G>A | EX3 | miss | Taq I- | 430 G>A | E144K | eye | skel | - | cns | - | non | anglo-celtic | Gaustadnes et al., 2002 | 1316 G>A;[R439Q] | CG>CA |
| 440 | 13311 G>A | EX12 | miss | EcoR II+, Msp I- | 1316 G>A | R439Q | eye | skel | - | cns | - | non | anglo-celtic | Gaustadnes et al., 2002 | 430 G>A;[E144K] | CG>CA |
| 441 | 9193 G>A | EX8 | miss | 904 G>A | E302K | eye | skel | - | cns | - | non | anglo-celtic | Gaustadnes et al., 2002 | CG>CA | ||
| 442 | 5941insG | EX3 | ins | 442insG | N149fsX187 | - | - | - | - | - | - | Australian | Gaustadnes et al., 2002 | |||
| 443 | 9181insC | EX8 | ins | 892insC | Q298fsX329 | eye | skel | - | cns | mild | partial | Australian | Gaustadnes et al., 2002 | |||
| 444 | 6940 C>A | EX6 | miss | 684 C>A | N228K | eye | skel | - | cns | - | non | anglo-celtic | Gaustadnes et al., 2002 | |||
| 445 | 11752 G>A | IN11 | other | IVS11+1G>A | del aa382-407 | eye | skel | - | cns | - | non | anglo-celtic | Gaustadnes et al., 2002 | |||
| 446 | 5824 T>C | EX3 | miss | 325 T>C | C109R | eye | - | - | cns | - | non | anglo-celtic | Gaustadnes et al., 2002 | |||
| 447 | 13942 T>C | EX13 | miss | 1367 T>C | L456P | eye | skel | - | cns | severe | non | spanish | Urreizti et al., 2003 | |||
| 448 | 13942 T>C | EX13 | miss | 1367 T>C | L456P | eye | skel | - | cns | severe | non | spanish | Urreizti et al., 2003 | |||
| 449 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | eye | skel | - | cns | severe | - | spanish | Urreizti et al., 2003 | CG>TG; * | ||
| 450 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | eye | skel | - | cns | severe | - | spanish | Urreizti et al., 2003 | CG>TG; * | ||
| 451 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | eye | skel | - | cns | moderate | non | spanish | Urreizti et al., 2003 | CG>TG; * | ||
| 452 | 18220delG | EX16 | del | NciI- | 1566delG | fs, stop at aa 540 | eye | skel | - | cns | moderate | non | spanish | Urreizti et al., 2003 | ||
| 453 | 18220delG | EX16 | del | NciI- | 1566delG | fs, stop at aa 540 | eye | skel | vasc | cns | severe | non | spanish | Urreizti et al., 2003 | ||
| 454 | 11742 G>A | EX10 | miss | 1136 G>A | R379Q | eye | skel | vasc | cns | severe | non | spanish | Urreizti et al., 2003 | CG>CA | ||
| 455 | 11652 G>A | EX10 | miss | 1046 G>A | S349N | eye | skel | vasc | cns | severe | non | spanish | Urreizti et al., 2003 | |||
| 456 | 11652 G>A | EX10 | miss | 1046 G>A | S349N | eye | skel | vasc | cns | severe | non | spanish | Urreizti et al., 2003 | |||
| 457 | 11652 G>A | EX10 | miss | 1046 G>A | S349N | eye | - | vasc | - | mild | non | spanish | Urreizti et al., 2003 | |||
| 458 | 210 G>A | IN1 | del | IVS1+1G>A | del ex1 or 153del57 | eye | - | vasc | - | mild | non | spanish | Urreizti et al., 2003 | |||
| 459 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | - | - | - | mild | non | spanish | Urreizti et al., 2003 | CG>TG | |
| 460 | 5872 C>T | EX3 | miss | Aci I - | 373 C>T | R125W | eye | - | - | - | mild | non | spanish | Urreizti et al., 2003 | CG>TG | |
| 461 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | skel | vasc | cns | severe | non | spanish | Urreizti et al., 2003 | CG>TG | |
| 462 | 5872 C>T | EX3 | miss | Aci I - | 373 C>T | R125W | eye | skel | vasc | cns | severe | non | spanish | Urreizti et al., 2003 | CG>TG | |
| 463 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | skel | - | cns | severe | non | spanish | Urreizti et al., 2003 | CG>TG | |
| 464 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | skel | - | cns | severe | non | spanish | Urreizti et al., 2003 | CG>TG | |
| 465 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | skel | vasc | cns | mild | non | Portuguese | Urreizti et al., 2003 | CG>TG | |
| 466 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | - | vasc | cns | mild | non | Portuguese | Urreizti et al., 2003 | CG>TG | |
| 467 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | skel | vasc | - | severe | non | spanish | Urreizti et al., 2003 | CG>TG | |
| 468 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | skel | - | cns | moderate | non | spanish | Urreizti et al., 2003 | CG>TG | |
| 469 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | - | - | - | mild | non | spanish | Urreizti et al., 2003 | CG>TG | |
| 470 | 8292 G>A | EX7 | miss | 824 G>A | C275Y | eye | - | vasc | - | severe | non | spanish | Urreizti et al., 2003 | |||
| 471 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | german | Linnebank, M.* | ||
| 472 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | german | Linnebank, M.* | ||
| 473 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | n.d. | Linnebank, M.* | ||
| 474 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | n.d. | Linnebank, M.* | ||
| 475 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | german | Linnebank, M.* | ||
| 476 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | german | Linnebank, M.* | ||
| 477 | 11664 C>T | EX10 | miss | 1058 C>T | T353M | - | - | - | - | - | - | german | Linnebank, M.* | CG>TG | ||
| 478 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | german | Linnebank, M.* | ||
| 479 | 194 A>G | EX1 | miss | 194 A>G | H65R | - | - | - | - | - | - | german | Linnebank, M.* | |||
| 480 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | german | Linnebank, M.* | ||
| 481 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | german | Linnebank, M.* | ||
| 482 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | cns | moderate | partial | german | Linnebank, M.* | ||
| 483 | 210 G>A | IN1 | del | IVS1+1G>A | del ex1 or 153del57 | eye | skel | - | cns | moderate | partial | german | Linnebank, M.* | |||
| 484 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | - | - | - | mild | partial | german | Linnebank, M.* | ||
| 485 | 8238 C>T | EX7 | miss | Nla III+ | 770 C>T | T257M | eye | - | - | - | mild | partial | german | Linnebank, M.* | CG>TG | |
| 486 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | german | Linnebank, M.* | ||
| 487 | 5872 C>T | EX3 | miss | Aci I - | 373 C>T | R125W | - | - | - | - | - | - | german | Linnebank, M.* | CG>TG | |
| 488 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | german | Linnebank, M.* | ||
| 489 | 8208del25 | EX7 | del | 740del25 | del aa 247-255 | - | - | - | - | - | - | german | Linnebank, M.* | |||
| 490 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | german | Linnebank, M.* | ||
| 491 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | - | mild | partial | german | Linnebank, M.* | ||
| 492 | 8238 C>T | EX7 | miss | Nla III+ | 770 C>T | T257M | eye | skel | - | - | mild | partial | german | Linnebank, M.* | CG>TG | |
| 493 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | croatian | Linnebank, M.* | ||
| 494 | 13217 A>C | IN11 | del | Msp I+ | IVS11-2 A>C | del ex 12 | - | - | - | - | - | - | croatian | Linnebank, M.* | ||
| 495 | 5824 T>C | EX3 | miss | 325 T>C | C109R | - | - | - | cns | - | non | anglo-celtic | Gaustadnes et al., 2002 | |||
| 496 | n.d. | n.d. | del | 533 del 18 | del aa 179-184 | - | - | - | cns | - | non | anglo-celtic | Gaustadnes et al., 2002 | |||
| 497 | 11711 C>T | EX10 | miss | Hha I- | 1105 C>T | R369C | - | - | vasc | cns | - | responsive | anglo-celtic | Gaustadnes et al., 2002 | CG>TG; * | |
| 498 | 19insC | EX1 | ins | 19insC | fs, stop at aa 36 | - | - | - | cns | - | non | lebanese | Gaustadnes et al., 2002 | |||
| 499 | 19insC | EX1 | ins | 19insC | fs, stop at aa 36 | - | - | - | cns | - | non | lebanese | Gaustadnes et al., 2002 | |||
| 500 | 13217 A>C | IN11 | del | Msp I+ | IVS11-2 A>C | del ex 12 | eye | skel | vasc | cns | severe | non | Polish | Orendac et al., 2004 | ||
| 501 | 5928 C>G | EX3 | miss | TaqI- | 429 C>G | I143M | eye | skel | vasc | cns | severe | non | Polish | Orendac et al., 2004 | CG>GG | |
| 502 | 5928 C>G | EX3 | miss | TaqI- | 429 C>G | I143M | eye | skel | vasc | cns | severe | non | Polish | Orendac et al., 2004 | CG>GG | |
| 503 | 13217 A>C | IN11 | del | Msp I+ | IVS11-2 A>C | del ex 12 | eye | skel | vasc | cns | severe | non | Polish | Orendac et al., 2004 | ||
| 504 | 6940 C>A | EX6 | miss | 684 C>A | N228K | eye | skel | vasc | cns | severe | non | Polish | Orendac et al., 2004 | |||
| 505 | 6940 C>A | EX6 | miss | 684 C>A | N228K | eye | skel | vasc | cns | severe | non | Polish | Orendac et al., 2004 | |||
| 506 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | vasc | cns | severe | non | Polish | Orendac et al., 2004 | ||
| 507 | 13217 A>C | IN11 | del | Msp I+ | IVS11-2 A>C | del ex 12 | eye | skel | vasc | cns | severe | non | Polish | Orendac et al., 2004 | ||
| 508 | 5941 G>A | EX3 | miss | Msp I-,BstN I+ | 442 G>A | G148R | - | - | vasc | cns | severe | non | Polish | Orendac et al., 2004 | CG>CA | |
| 509 | 5941 G>A | EX3 | miss | Msp I-,BstN I+ | 442 G>A | G148R | - | - | vasc | cns | severe | non | Polish | Orendac et al., 2004 | CG>CA | |
| 510 | 9885 G>T | IN9 | splicing | HphI- | IVS9+1 G>T | del ex 9, T318fsX330 | - | - | - | - | - | non | Polish | Orendac et al., 2004 | ||
| 511 | 9885 G>T | IN9 | splicing | HphI- | IVS9+1 G>T | del ex 9, T318fsX330 | - | - | - | - | - | non | Polish | Orendac et al., 2004 | ||
| 512 | 9858 T>C | EX9 | miss | PvuI+ | 1013 T>C | L338P | eye | skel | vasc | cns | severe | non | Spanish | Urreizti et al., 2003 | ||
| 513 | 9858 T>C | EX9 | miss | PvuI+ | 1013 T>C | L338P | eye | skel | vasc | cns | severe | non | Spanish | Urreizti et al., 2003 | ||
| 514 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | - | vasc | - | severe | non | spanish | Urreizti et al., 2003 | CG>TG | |
| 515 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | - | - | - | mild | non | spanish | Urreizti et al., 2003 | CG>TG | |
| 516 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | skel | - | cns | moderate | non | spanish | Urreizti et al., 2003 | CG>TG | |
| 517 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | skel | vasc | - | severe | non | spanish | Urreizti et al., 2003 | CG>TG | |
| 518 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | skel | - | cns | severe | non | Portuguese | Urreizti et al., 2003 | CG>TG | |
| 519 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | skel | - | cns | severe | non | Portuguese | Urreizti et al., 2003 | CG>TG | |
| 520 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | skel | vasc | cns | severe | non | spanish | Urreizti et al., 2003 | CG>TG | |
| 521 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | skel | vasc | cns | severe | non | spanish | Urreizti et al., 2003 | CG>TG | |
| 522 | 6939 A>G | EX6 | miss | 683 A>G | N228S | eye | - | vasc | cns | - | non | caucasian | Kruger et al., 2003 | |||
| 523 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | caucasian | Kruger et al., 2003 | ||
| 524 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | - | - | - | - | partial | caucasian | Kruger et al., 2003 | ||
| 525 | 9804 T>C | EX9 | miss | 959 T>C | V320A | eye | - | - | cns | moderate | non | caucasian | Kruger et al., 2003 | |||
| 526 | 9804 T>C | EX9 | miss | 959 T>C | V320A | eye | - | - | cns | moderate | non | caucasian | Kruger et al., 2003 | |||
| 527 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | partial | caucasian | Kruger et al., 2003 | ||
| 528 | 6947 G>C | EX6 | miss | 691 G>C | A231L | - | - | - | - | - | partial | caucasian | Kruger et al., 2003 | |||
| 529 | 3669 T>C | EX2 | miss | 302 T>C | L101P | eye | - | vasc | - | - | non | caucasian | Kruger et al., 2003 | |||
| 530 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | - | vasc | - | - | non | caucasian | Kruger et al., 2003 | ||
| 531 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | - | vasc | - | - | responsive | caucasian | Kruger et al., 2003 | ||
| 532 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | - | vasc | - | - | responsive | caucasian | Kruger et al., 2003 | ||
| 533 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | cns | moderate | responsive | South Amerindian | Vania DAlmeida et al., 2003 | ||
| 534 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | cns | mild | responsive | Brazilian | Vania DAlmeida et al., 2003 | ||
| 535 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | skel | - | - | asymptomatic | non | Portuguese | Vania DAlmeida et al., 2003 | ||
| 536 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | - | mild | non | Portuguese | Vania DAlmeida et al., 2003 | ||
| 537 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | cns | mild | non | Portuguese | Vania DAlmeida et al., 2003 | ||
| 538 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | - | - | cns | moderate | non | Brazilian | Vania DAlmeida et al., 2003 | ||
| 539 | 6983 C>T | EX6 | nons | Fnu4HI- | 727 C>T | Q243X | eye | skel | - | cns | - | - | Venezuelan | De Lucca et al., 2004 | ||
| 540 | 3620 G>A | EX2 | miss | 253 G>A | G85R | eye | skel | - | cns | mild | partial | Venezuelan | De Lucca et al., 2004 | CG>CA | ||
| 541 | 13325 G>A | EX12 | miss | Taq I- | 1330 G>A | D444N | eye | - | - | - | - | Portuguese | De Lucca et al., 2004 | CG>CA | ||
| 542 | 13325 G>A | EX12 | miss | Taq I- | 1330 G>A | D444N | eye | - | - | - | - | Portuguese | De Lucca et al., 2004 | CG>CA | ||
| 543 | 3620 G>A | EX2 | miss | 253 G>A | G85R | eye | skel | - | cns | mild | partial | Venezuelan | De Lucca et al., 2004 | CG>CA | ||
| 544 | 6956 G>A | EX6 | miss | 700 G>A | D234N | eye | skel | - | - | - | - | Venezuelan | De Lucca et al., 2004 | CG>CA | ||
| 545 | 6956 G>A | EX6 | miss | 700 G>A | D234N | eye | skel | - | - | - | - | Venezuelan | De Lucca et al., 2004 | CG>CA | ||
| 546 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | skel | - | cns | - | partial | Venezuelan, Indigenous | De Lucca et al., 2004 | CG>TG | |
| 547 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | skel | - | cns | - | partial | Venezuelan, Indigenous | De Lucca et al., 2004 | CG>TG | |
| 548 | 3627 C>A | EX2 | miss | MslI- | 260 C>A | T87N | eye | skel | vasc | cns | moderate | - | Venezuelan | Marisel De Lucca * | ||
| 549 | 3620 G>A | EX2 | miss | 253 G>A | G85R | eye | skel | vasc | cns | moderate | - | Venezuelan | Marisel De Lucca * | CG>CA | ||
| 550 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | French | Redonnet-Vernhet et al., 2005 | CG>TG | |
| 551 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | French | Redonnet-Vernhet et al., 2005 | CG>TG | |
| 552 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | French | Redonnet-Vernhet et al., 2005 | CG>TG | |
| 553 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | French | Redonnet-Vernhet et al., 2005 | CG>TG | |
| 554 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | French | Redonnet-Vernhet et al., 2005 | CG>TG | |
| 555 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | French | Redonnet-Vernhet et al., 2005 | CG>TG | |
| 556 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | French | Redonnet-Vernhet et al., 2005 | CG>TG | |
| 557 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | French | Redonnet-Vernhet et al., 2005 | ||
| 558 | 6504 G>A | EX4 | miss | 457 G>A | G153R | - | - | - | - | - | - | French | Redonnet-Vernhet et al., 2005 | |||
| 559 | 6504 G>A | EX4 | miss | 457 G>A | G153R | - | - | - | - | - | - | French | Redonnet-Vernhet et al., 2005 | |||
| 560 | 6585 | EX4 | miss | 488 | Y163R | - | - | - | - | - | - | French | Redonnet-Vernhet et al., 2005 | |||
| 561 | 8292 G>A | EX7 | miss | 824 G>A | C275Y | - | - | - | - | - | - | French | Redonnet-Vernhet et al., 2005 | |||
| 562 | 5950 G>A | EX3 | miss | 451 G>A | G151R | - | - | - | - | - | - | French | Redonnet-Vernhet et al., 2005 | CG>CA | ||
| 563 | 5845 G>A | EX3 | miss | 346 G>A | G116R | - | - | - | - | - | - | French | Redonnet-Vernhet et al., 2005 | CG>CA | ||
| 564 | 8253 C>T | EX7 | miss | 785 C>T | T262M | - | - | - | - | - | - | French | Redonnet-Vernhet et al., 2005 | CG>TG | ||
| 565 | 9193 G>A | EX8 | miss | 904 G>A | E302K | - | - | - | - | - | - | French | Redonnet-Vernhet et al., 2005 | CG>CA | ||
| 566 | 9193 G>A | EX8 | miss | 904 G>A | E302K | - | - | - | - | - | - | French | Redonnet-Vernhet et al., 2005 | CG>CA | ||
| 567 | 6579 G>A | IVS4 | splicing | IVS4+1 G>A | n.d. | eye | - | vasc | - | mild | - | Danish | Skovby* | |||
| 568 | 13325 G>A | EX12 | miss | Taq I- | 1330 G>A | D444N | eye | - | vasc | - | mild | - | Danish | Skovby* | CG>CA | |
| 569 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Colombian | Urreizti et al., 2006 | CG>TG | |
| 570 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Colombian | Urreizti et al., 2006 | CG>TG | |
| 571 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Colombian | Urreizti et al., 2006 | CG>TG | |
| 572 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Colombian | Urreizti et al., 2006 | CG>TG | |
| 573 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Colombian | Urreizti et al., 2006 | CG>TG | |
| 574 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Colombian | Urreizti et al., 2006 | CG>TG | |
| 575 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Colombian | Urreizti et al., 2006 | CG>TG | |
| 576 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Colombian | Urreizti et al., 2006 | CG>TG | |
| 577 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Colombian | Urreizti et al., 2006 | CG>TG | |
| 578 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Colombian | Urreizti et al., 2006 | CG>TG | |
| 579 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Colombian | Urreizti et al., 2006 | CG>TG | |
| 580 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Colombian | Urreizti et al., 2006 | CG>TG | |
| 581 | 9151 G>A | EX8 | miss | 862 G>A | A288T | eye | skel | - | cns | severe | - | Colombian | Bermudez et al., 2006 | CG>CA | ||
| 582 | 5861 G>A | EX3 | miss | 362 G>A | R121H | eye | skel | - | cns | severe | - | Colombian | Bermudez et al., 2006 | CG>CA; * | ||
| 583 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | skel | vasc | cns | severe | - | Colombian | Bermudez et al., 2006 | CG>TG | |
| 584 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | skel | vasc | cns | severe | - | Colombian | Bermudez et al., 2006 | CG>TG | |
| 585 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | skel | vasc | cns | severe | - | Colombian | Bermudez et al., 2006 | CG>TG | |
| 586 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | skel | vasc | cns | severe | - | Colombian | Bermudez et al., 2006 | CG>TG | |
| 587 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | skel | vasc | cns | severe | - | Colombian | Bermudez et al., 2006 | CG>TG | |
| 588 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | skel | vasc | cns | severe | - | Colombian | Bermudez et al., 2006 | CG>TG | |
| 589 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | skel | - | cns | moderate | - | Colombian | Bermudez et al., 2006 | CG>TG | |
| 590 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | skel | - | cns | moderate | - | Colombian | Bermudez et al., 2006 | CG>TG | |
| 591 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | skel | - | cns | moderate | - | Colombian | Bermudez et al., 2006 | CG>TG | |
| 592 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | skel | - | cns | moderate | - | Colombian | Bermudez et al., 2006 | CG>TG | |
| 593 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | skel | - | cns | moderate | - | Colombian | Bermudez et al., 2006 | CG>TG | |
| 594 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | skel | - | cns | moderate | - | Colombian | Bermudez et al., 2006 | CG>TG | |
| 595 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | skel | - | cns | moderate | - | Colombian | Bermudez et al., 2006 | CG>TG | |
| 596 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | skel | - | cns | moderate | - | Colombian | Bermudez et al., 2006 | CG>TG | |
| 597 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Spanish | Urreizti et al., 2006 | CG>TG | |
| 598 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Spanish | Urreizti et al., 2006 | CG>TG | |
| 599 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Spanish | Urreizti et al. 2006 | CG>TG | |
| 600 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Spanish | Urreizti et al. 2006 | CG>TG | |
| 601 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Spanish | Urreizti et al. 2006 | CG>TG | |
| 602 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Spanish | Urreizti et al. 2006 | CG>TG | |
| 603 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Spanish | Urreizti et al. 2006 | CG>TG | |
| 604 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Spanish | Urreizti et al. 2006 | CG>TG | |
| 605 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Spanish | Urreizti et al. 2006 | CG>TG | |
| 606 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Spanish | Urreizti et al. 2006 | CG>TG | |
| 607 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Spanish | Urreizti et al. 2006 | CG>TG | |
| 608 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Spanish | Urreizti et al. 2006 | CG>TG | |
| 609 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Spanish | Urreizti et al. 2006 | CG>TG | |
| 610 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Spanish | Urreizti et al. 2006 | CG>TG | |
| 611 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Spanish | Urreizti et al. 2006 | 1330 G>A; [D444N] | CG>TG |
| 612 | 13325 G>A | EX12 | miss | Taq I- | 1330 G>A | D444N | - | - | - | - | - | - | Spanish | Urreizti et al. 2006 | 572 C>T; [T191M] | CG>CA |
| 613 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Portuguese | Urreizti et al. 2006 | CG>TG | |
| 614 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Portuguese | Urreizti et al. 2006 | CG>TG | |
| 615 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Argentinian | Urreizti et al. 2006 | CG>TG | |
| 616 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Argentinian | Urreizti et al. 2006 | CG>TG | |
| 617 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 618 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 619 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 620 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 621 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 622 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 623 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 624 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 625 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 626 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 627 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 628 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 629 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 630 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 631 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 632 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 633 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 634 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 635 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 636 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 637 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 638 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 639 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 640 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 641 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 642 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 643 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 644 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 645 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 646 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 647 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 648 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 649 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 650 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 651 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 652 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 653 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 654 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 655 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 656 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 657 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 658 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 659 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 660 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 661 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 662 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 663 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 664 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 665 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 666 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 667 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 668 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 669 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 670 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 671 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 672 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 673 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 674 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 675 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 676 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 677 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 678 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 679 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 680 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | - | - | Brazilian | Urreizti et al. 2006 | CG>TG | |
| 681 | 9852 G>A | EX9 | miss | Sph I- | 1007 G>A | R336H | eye | skel | - | - | - | - | Italian | Evangelisti et al. 2008 | CG>CA; * | |
| 682 | 6516 G>C | EX4 | miss | 469 G>C | A157P | eye | skel | vasc | - | - | - | Italian | Evangelisti et al. 2008 | |||
| 683 | 9208 G>A | EX8 | miss | Alu I+ | 919 G>A | G307S | eye | skel | vasc | - | - | - | Italian | Evangelisti et al. 2008 | CG>CA | |
| 684 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | skel | vasc | - | - | - | Argentinian | Evangelisti et al. 2008 | ||
| 685 | 13281_13283del | EX12 | del | 1286_1288delTCA | I429del,fs | - | skel | vasc | - | - | - | Argentinian | Evangelisti et al. 2008 | |||
| 686 | 146 C>T | EX1 | miss | Dde I+ | 146 C>T | P49L | eye | skel | vasc | - | - | - | Italian | Evangelisti et al. 2008 | CG>TG | |
| 687 | 13554 G>A | IN12 | del | Sau3A I+ | IVS 12+1 G>A | del ex 12 | eye | skel | vasc | - | - | - | Italian | Evangelisti et al. 2008 | ||
| 688 | 5873 G>A | EX3 | miss | Pst I+ | 374 G>A | R125Q | eye | skel | vasc | - | - | - | Italian | Evangelisti et al. 2008 | CG>CA | |
| 689 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | vasc | - | - | - | Italian | Evangelisti et al. 2008 | ||
| 690 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | vasc | - | mild | responsive | Danish | Skovby F* | ||
| 691 | 11758 C>T | IN10 | splicing | IVS10+7 C>T | n.d. | - | - | vasc | - | mild | responsive | Danish | Skovby F* | |||
| 692 | 6579 G>A | IVS4 | splicing | IVS4+1 G>A | n.d. | eye | - | vasc | - | mild | - | Danish | Skovby F* | |||
| 693 | 13325 G>A | EX12 | miss | Taq I- | 1330 G>A | D444N | eye | - | vasc | - | mild | - | Danish | Skovby F* | CG>CA | |
| 694 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | vasc | - | mild | responsive | French | Lefaucheur R et al. 2008 | ||
| 695 | 13325 G>A | EX12 | miss | Taq I- | 1330 G>A | D444N | - | - | vasc | - | mild | - | French | Lefaucheur R et al. 2008 | CG>CA | |
| 696 | 6950 C>G | EX6 | miss | 694 C>G | H232D | - | - | - | cns | - | - | Japanese | Yokoi et al. 2008 | |||
| 697 | 8243 G>A | EX7 | miss | 775 G>A | G259D | - | - | - | cns | - | - | Japanese | Yokoi et al. 2008 | CG>CA | ||
| 698 | 13316 A>T | EX12 | nons | 1321 A>T | K441X | - | skel | - | cns | - | - | Japanese | Katsushima et al. 2006 | |||
| 699 | 13316 A>T | EX12 | nons | 1321 A>T | K441X | - | skel | - | cns | - | - | Japanese | Katsushima et al. 2006 | |||
| 700 | 6950 C>G | EX6 | miss | 694 C>G | H232D | eye | - | - | cns | - | responsive | Japanese | Katsushima et al. 2006 | |||
| 701 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | - | - | cns | - | responsive | Japanese | Katsushima et al. 2006 | ||
| 702 | 5840 C>T | EX3 | miss | Mae II+ | 341 C>T | A114V | - | - | - | - | - | - | Japanese | Katsushima et al. 2006 | CG>TG | |
| 703 | 5950 G>A | EX3 | miss | 451 G>A | G151R | nbs | nbs | nbs | nbs | - | - | Japanese | Katsushima et al. 2006 | CG>CA | ||
| 704 | 13316 A>T | EX12 | nons | 1321 A>T | K441X | nbs | nbs | nbs | nbs | nbs | non | Japanese | Katsushima et al. 2006 | |||
| 705 | 18245del4 | EX16 | del | 1591del4 | 1591delTTCG, fs | nbs | nbs | nbs | nbs | nbs | non | Japanese | Katsushima et al. 2006 | |||
| 706 | 103 G>A | EX1 | miss | 103G>A; 129G>A | D35N; W43X | nbs | nbs | nbs | nbs | nbs | non | Japanese | Katsushima et al. 2006 | |||
| 707 | 6950 C>G | EX6 | miss | 694 C>G | H232D | nbs | nbs | nbs | nbs | nbs | non | Japanese | Katsushima et al. 2006 | |||
| 708 | 5861 G>A | EX3 | miss | 362 G>A | R121H | nbs | nbs | nbs | nbs | nbs | non | Japanese | Katsushima et al. 2006 | CG>CA; * | ||
| 709 | 6504 G>A | EX4 | miss | 457 G>A | G153R | - | - | - | - | - | - | German | Linnebank, M.* | |||
| 710 | 5873 G>A | EX3 | miss | Pst I+ | 374 G>A | R125Q | - | - | - | - | - | - | German | Linnebank, M.* | CG>CA | |
| 711 | 5950 G>A | EX3 | miss | 451 G>A | G151R | eye | skel | - | cns | moderate | non | Turkish | Linnebank, M.* | CG>CA | ||
| 712 | 9804 T>C | EX9 | miss | 959 T>C | V320A | eye | skel | vasc | - | mild | partial | German | Linnebank, M.* | |||
| 713 | 5872 C>T | EX3 | miss | Aci I - | 373 C>T | R125W | eye | skel | - | - | mild | responsive | German | Linnebank, M.* | CG>TG | |
| 714 | 5680 C>A | EX3 | miss | 361 C>A | R121S | - | - | - | - | - | - | Turkish/Dutch | Linnebank, M.* | |||
| 715 | 11664 C>T | EX10 | miss | 1058 C>T | T353M | - | - | - | - | - | - | Turkish/Dutch | Linnebank, M.* | CG>TG | ||
| 716 | 5942 G>A | EX3 | miss | 443 G>A | G148E | - | - | - | - | - | - | German | Linnebank, M.* | |||
| 717 | 11666 G>A | EX10 | miss | 1060 G>A | V354M | - | - | - | - | - | - | German | Linnebank, M.* | |||
| 718 | 194 A>C | EX1 | miss | 194 A>C | H65R | - | - | - | - | - | - | n.d. | Linnebank, M.* | |||
| 719 | 6549 G>A | EX4 | miss | 502 G>A | V168M | - | - | - | - | - | - | n.d. | Linnebank, M.* | CG>CA | ||
| 720 | 3671 A>C 6643 del29 | EX2; IVS4 | miss | PstI+ | 304 A>C; IVS4-29del129 | K102Q; del EX5 | - | - | - | - | - | - | Israeli | Linnebank, M.* | ||
| 721 | 3671 A>C 6643 del29 | EX2; IVS4 | miss | PstI+ | 304 A>C; IVS4-29del129 | K102Q; del EX5 | - | - | - | - | - | - | Israeli | Linnebank, M.* | ||
| 722 | 13217 A>C | IN11 | del | Msp I+ | IVS11-2 A>C | del ex 12 | - | - | - | - | - | - | n.d. | Linnebank, M.* | ||
| 723 | 13217 A>C | IN11 | del | Msp I+ | IVS11-2 A>C | del ex 12 | - | - | - | - | - | - | n.d. | Linnebank, M.* | ||
| 724 | 5861 G>A | EX3 | miss | 362 G>A | R121H | - | - | - | - | - | - | German | Linnebank, M.* | CG>CA; * | ||
| 725 | 9858 T>C | EX9 | miss | PvuI+ | 1013 T>C | L338P | - | - | - | - | - | - | n.d. | Linnebank, M.* | ||
| 726 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | German | Linnebank, M.* | ||
| 727 | 11688 T>C | EX10 | miss | 1082 T>C | A361V | - | - | - | - | - | - | German | Linnebank, M.* | |||
| 728 | 13217 A>C | IN11 | del | Msp I+ | IVS11-2 A>C | del ex 12 | - | - | - | - | - | - | Polish | Linnebank, M.* | ||
| 729 | 13217 A>C | IN11 | del | Msp I+ | IVS11-2 A>C | del ex 12 | - | - | - | - | - | - | Polish | Linnebank, M.* | ||
| 730 | 6932 G>A | EX6 | miss | 676 G>A | A226T | - | - | - | - | - | - | Polish | Linnebank, M.* | CG>CA | ||
| 731 | 13217 A>C | IN11 | del | Msp I+ | IVS11-2 A>C | del ex 12 | - | - | - | - | - | - | Polish | Linnebank, M.* | ||
| 732 | 13217 A>C | IN11 | del | Msp I+ | IVS11-2 A>C | del ex 12 | - | - | - | - | - | - | Polish | Linnebank, M.* | ||
| 733 | 9151 G>A | EX8 | miss | 862 G>A | A288T | - | - | - | - | - | - | Polish | Linnebank, M.* | CG>CA | ||
| 734 | 9852 G>A | EX9 | miss | Sph I- | 1007 G>A | R336H | - | - | - | - | - | - | n.d. | Linnebank, M.* | CG>CA; * | |
| 735 | 9852 G>A | EX9 | miss | Sph I- | 1007 G>A | R336H | - | - | - | - | - | - | n.d. | Linnebank, M.* | CG>CA; * | |
| 736 | 9151 G>A | EX8 | miss | 862 G>A | A288T | - | - | - | - | - | - | Turkish | Linnebank, M.* | CG>CA | ||
| 737 | 9151 G>A | EX8 | miss | 862 G>A | A288T | - | - | - | - | - | - | Turkish | Linnebank, M.* | CG>CA | ||
| 738 | 8238 C>T | EX7 | miss | Nla III+ | 770 C>T | T257M | - | - | - | - | - | - | n.d. | Linnebank, M.* | CG>TG | |
| 739 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | n.d. | Linnebank, M.* | ||
| 740 | 9193 G>A | EX8 | miss | 904 G>A | E302K | - | - | - | - | - | - | n.d. | Linnebank, M.* | CG>CA | ||
| 741 | G253del | EX2 | del | G253 del | fs | - | - | - | - | - | - | Brazilian | Linnebank, M.* | |||
| 742 | 5861 G>A | EX3 | miss | 362 G>A | R121H | nbs | nbs | nbs | nbs | nbs | non | Japanese | Katsushima et al. 2006 | CG>CA; * | ||
| 743 | 9884 G>A | EX9 | miss | 1039 G>A | G347S | - | skel | - | cns | - | non | Japanese | Katsushima et al. 2006 | CG>CA | ||
| 744 | 9884 G>A | EX9 | miss | 1039 G>A | G347S | - | skel | - | cns | - | non | Japanese | Katsushima et al. 2006 | CG>CA | ||
| 745 | 6792 C>T | EX6 | miss | 650 C>T | S217F | - | - | - | - | - | - | Japanese | Katsushima et al. 2006 | |||
| 746 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | Japanese | Katsushima et al. 2006 | ||
| 747 | 5861 G>A | EX3 | miss | 362 G>A | R121H | nbs | nbs | nbs | nbs | nbs | non | Japanese | Katsushima et al. 2006 | CG>CA; * | ||
| 748 | 5861 G>A | EX3 | miss | 362 G>A | R121H | nbs | nbs | nbs | nbs | nbs | non | Japanese | Katsushima et al. 2006 | CG>CA; * | ||
| 749 | 5860 C>T | EX3 | miss | 361 C>T | R121C | eye | vasc | cns | - | - | Japanese | Katsushima et al. 2006 | CG>TG; * | |||
| 750 | 5860 C>T | EX3 | miss | 361 C>T | R121C | eye | vasc | cns | - | - | Japanese | Katsushima et al. 2006 | CG>TG; * | |||
| 751 | 8264 A>G | EX7 | miss | BstN I- | 796A>G | R266G | nbs | nbs | nbs | nbs | - | - | Japanese | Katsushima et al. 2006 | ||
| 752 | 13316 A>T | EX12 | nons | 1321 A>T | K441X | nbs | nbs | nbs | nbs | - | - | Japanese | Katsushima et al. 2006 | |||
| 753 | 11664 C>T | EX10 | miss | 1058 C>T | T353M | - | - | - | - | severe | - | Spanish | Cozar M et al. 2011 | CG>TG | ||
| 754 | 13325 G>A | EX12 | miss | Taq I- | 1330 G>A | D444N | - | - | - | - | severe | - | Spanish | Cozar M et al. 2011 | CG>CA | |
| 755 | 6741 C>T | EX5 | miss | Msp I- | 599 C>T | P200L | - | - | - | - | asymptomatic | - | Spanish | Cozar M et al. 2011 | ||
| 756 | 5873 G>A | EX3 | miss | Pst I+ | 374 G>A | R125Q | - | - | - | - | mild | - | Spanish | Cozar M et al. 2011 | CG>CA | |
| 757 | 146 C>T | EX1 | miss | Dde I+ | 146 C>T | P49L | - | - | - | - | mild | - | Spanish | Cozar M et al. 2011 | CG>TG | |
| 758 | 5873 G>A | EX3 | miss | Pst I+ | 374 G>A | R125Q | - | - | - | - | asymptomatic | - | Spanish | Cozar M et al. 2011 | CG>CA | |
| 759 | 146 C>T | EX1 | miss | Dde I+ | 146 C>T | P49L | - | - | - | - | asymptomatic | - | Spanish | Cozar M et al. 2011 | CG>TG | |
| 760 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | mild | - | Spanish | Cozar M et al. 2011 | CG>TG | |
| 761 | 9130 C>T | EX8 | miss | BamH I- | 841 C>T | D281N | - | - | - | - | mild | - | Spanish | Cozar M et al. 2011 | ||
| 762 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | mild | - | Spanish | Cozar M et al. 2011 | CG>TG | |
| 763 | 9130 C>T | EX8 | miss | BamH I- | 841 C>T | D281N | - | - | - | - | mild | - | Spanish | Cozar M et al. 2011 | ||
| 764 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | mild | - | Spanish | Cozar M et al. 2011 | CG>TG | |
| 765 | 9130 C>T | EX8 | miss | BamH I- | 841 C>T | D281N | - | - | - | - | mild | - | Spanish | Cozar M et al. 2011 | ||
| 766 | 11664 C>T | EX10 | miss | 1058 C>T | T353M | - | - | - | - | mild | - | Spanish | Cozar M et al. 2011 | CG>TG | ||
| 767 | 13325 G>A | EX12 | miss | Taq I- | 1330 G>A | D444N | - | - | - | - | mild | - | Spanish | Cozar M et al. 2011 | CG>CA | |
| 768 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | mild | - | Spanish | Cozar M et al. 2011 | ||
| 769 | 5860 C>T | EX3 | miss | 361 C>T | R121C | - | - | - | - | mild | - | Spanish | Cozar M et al. 2011 | CG>TG; * | ||
| 770 | 13325 G>A | EX12 | miss | Taq I- | 1330 G>A | D444N | - | - | - | - | mild | - | Spanish | Cozar M et al. 2011 | CG>CA | |
| 771 | 13325 G>A | EX12 | miss | Taq I- | 1330 G>A | D444N | - | - | - | - | mild | - | Spanish | Cozar M et al. 2011 | CG>CA | |
| 772 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | mild | - | Spanish | Cozar M et al. 2011 | CG>TG | |
| 773 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | mild | - | Spanish | Cozar M et al. 2011 | CG>TG | |
| 774 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | severe | - | Spanish | Cozar M et al. 2011 | CG>TG | |
| 775 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | severe | - | Spanish | Cozar M et al. 2011 | CG>TG | |
| 776 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | severe | - | Spanish | Cozar M et al. 2011 | CG>TG | |
| 777 | 9122 T>C | EX8 | miss | TspR I+ | 833 T>G | I278S | - | - | - | - | severe | - | Spanish | Cozar M et al. 2011 | ||
| 778 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | - | - | - | - | mild | - | Spanish | Cozar M et al. 2011 | CG>TG | |
| 779 | 11742 G>A | EX10 | miss | 1136 G>A | R379Q | - | - | - | - | mild | - | Spanish | Cozar M et al. 2011 | CG>CA | ||
| 780 | 18220delG | EX16 | del | NciI- | 1566delG | fs, stop at aa 540 | - | - | - | - | - | - | Spanish | Cozar M et al. 2011 | ||
| 781 | 18220delG | EX16 | del | NciI- | 1566delG | fs, stop at aa 540 | - | - | - | - | - | - | Spanish | Cozar M et al. 2011 | ||
| 782 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | mild | - | Spanish | Cozar M et al. 2011 | ||
| 783 | 8292 G>A | EX7 | miss | 824 G>A | C275Y | - | - | - | - | mild | - | Spanish | Cozar M et al. 2011 | |||
| 784 | 18220delG | EX16 | del | NciI- | 1566delG | fs, stop at aa 540 | - | - | - | - | severe | - | Portugese | Cozar M et al. 2011 | ||
| 785 | 18220delG | EX16 | del | NciI- | 1566delG | fs, stop at aa 540 | - | - | - | - | severe | - | Portugese | Cozar M et al. 2011 | ||
| 786 | 18220delG | EX16 | del | NciI- | 1566delG | fs, stop at aa 540 | - | - | - | - | asymptomatic | - | Portugese | Cozar M et al. 2011 | ||
| 787 | 6636_7431del796 | IVS4-6 | del | IVS4-38del796 | V178GfsX23 | - | - | - | - | asymptomatic | - | Portugese | Cozar M et al. 2011 | |||
| 788 | 9151_9155del5 | EX8 | del | 862_866del5 | E289GfsX39 | - | - | - | - | severe | - | Portugese | Cozar M et al. 2011 | |||
| 789 | 9151_9155del5 | EX8 | del | 862_866del5 | E289GfsX39 | - | - | - | - | severe | - | Portugese | Cozar M et al. 2011 | |||
| 790 | 3620 G>A | EX2 | miss | 253 G>A | G85R | - | - | - | - | severe | - | Argentinian | Cozar M et al. 2011 | CG>CA | ||
| 791 | 6909_6916del8 | IVS5 | del | IVS5-14_-7del8 | Y223GfsX23 | - | - | - | - | severe | - | Argentinian | Cozar M et al. 2011 | |||
| 792 | 3620 G>A | EX2 | miss | 253 G>A | G85R | - | - | - | - | severe | - | Argentinian | Cozar M et al. 2011 | CG>CA | ||
| 793 | 6909_6916del8 | IVS5 | del | IVS5-14_-7del8 | Y223GfsX23 | - | - | - | - | severe | - | Argentinian | Cozar M et al. 2011 | |||
| 794 | 6945delT | EX6 | del | Msp I+ | 689delT | L230RfsX39 | - | - | - | - | severe | - | Argentinian | Cozar M et al. 2011 | ||
| 795 | 6945delT | EX6 | del | Msp I+ | 689delT | L230RfsX39 | - | - | - | - | severe | - | Argentinian | Cozar M et al. 2011 | ||
| 796 | 9807 A>T | EX9 | miss | Hpy8 I- | 962 A>T | D321V | - | - | - | - | mild | - | Argentinian | Cozar M et al. 2011 | ||
| 797 | 13331 G>T | EX12 | miss | 1336 G>T | A446S | - | - | - | - | mild | - | Argentinian | Cozar M et al. 2011 | |||
| 798 | 6932 G>A | EX6 | miss | 676 G>A | A226T | - | - | - | - | severe | - | Argentinian | Cozar M et al. 2011 | CG>CA | ||
| 799 | 6932 G>A | EX6 | miss | 676 G>A | A226T | - | - | - | - | severe | - | Argentinian | Cozar M et al. 2011 | CG>CA | ||
| 800 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | Norwegian | Cozar M et al. 2011 | ||
| 801 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | - | - | - | - | - | - | Norwegian | Cozar M et al. 2011 | ||
| 802 | 6565_6567delTGA | EX4 | del | 518delTGA | M173del | - | - | - | - | mild | - | Indian | Cozar M et al. 2011 | |||
| 803 | 6565_6567delTGA | EX4 | del | 518delTGA | M173del | - | - | - | - | mild | - | Indian | Cozar M et al. 2011 | |||
| 804 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | Zschocke et al. 2009 | CG>TG; * | ||
| 805 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | Zschocke et al. 2009 | CG>TG; * | ||
| 806 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | Zschocke et al. 2009 | CG>TG; * | ||
| 807 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | Zschocke et al. 2009 | CG>TG; * | ||
| 808 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | Zschocke et al. 2009 | CG>TG; * | ||
| 809 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | Zschocke et al. 2009 | CG>TG; * | ||
| 810 | 9884 G>A | EX9 | miss | 1039 G>A | G347S | - | - | - | - | - | - | Qatar | Zschocke et al. 2009 | CG>CA | ||
| 811 | 9884 G>A | EX9 | miss | 1039 G>A | G347S | - | - | - | - | - | - | Qatar | Zschocke et al. 2009 | CG>CA | ||
| 812 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | Zschocke et al. 2009 | CG>TG; * | ||
| 813 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | Zschocke et al. 2009 | CG>TG; * | ||
| 814 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | Zschocke et al. 2009 | CG>TG; * | ||
| 815 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | Zschocke et al. 2009 | CG>TG; * | ||
| 816 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | Zschocke et al. 2009 | CG>TG; * | ||
| 817 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | Zschocke et al. 2009 | CG>TG; * | ||
| 818 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 819 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 820 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 821 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 822 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 823 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 824 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 825 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 826 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 827 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 828 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 829 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 830 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 831 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 832 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 833 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 834 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 835 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 836 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 837 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 838 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 839 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 840 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 841 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 842 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 843 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 844 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 845 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 846 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 847 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 848 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 849 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 850 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 851 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 852 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 853 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 854 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 855 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 856 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 857 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 858 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 859 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 860 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 861 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 862 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 863 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 864 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 865 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 866 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 867 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 868 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 869 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 870 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 871 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 872 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 873 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 874 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 875 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 876 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 877 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>TG; * | ||
| 878 | 6956 G>A | EX6 | miss | 700 G>A | D234N | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>CA | ||
| 879 | 6956 G>A | EX6 | miss | 700 G>A | D234N | - | - | - | - | - | - | Qatar | El-Said et al. 2006 | CG>CA | ||
| 880 | 8238 C>T | EX7 | miss | 770 C>T | T257M | eye | - | - | cns | moderate | - | Sudan | Zaidi et al. 2011 | CG>TG | ||
| 881 | 8238 C>T | EX7 | miss | 770 C>T | T257M | eye | - | - | cns | moderate | - | Sudan | Zaidi et al. 2011 | CG>TG | ||
| 882 | 9814 G>A | EX9 | nons | 969 G>A | W323X | eye | - | - | cns | moderate | - | Saudi | Zaidi et al. 2011 | CG>TG | ||
| 883 | 9814 G>A | EX9 | nons | 969 G>A | W323X | eye | - | - | cns | moderate | - | Saudi | Zaidi et al. 2011 | CG>TG | ||
| 884 | 9814 G>A | EX9 | nons | 969 G>A | W323X | eye | skel | - | cns | - | - | Saudi | Zaidi et al. 2011 | CG>TG | ||
| 885 | 9814 G>A | EX9 | nons | 969 G>A | W323X | eye | skel | - | cns | - | - | Saudi | Zaidi et al. 2011 | CG>TG | ||
| 886 | 9814 G>A | EX9 | nons | 969 G>A | W323X | - | - | - | - | - | - | Saudi | Zaidi et al. 2011 | CG>TG | ||
| 887 | 9814 G>A | EX9 | nons | 969 G>A | W323X | - | - | - | - | - | - | Saudi | Zaidi et al. 2011 | CG>TG | ||
| 888 | 9814 G>A | EX9 | nons | 969 G>A | W323X | - | - | - | - | - | - | Saudi | Zaidi et al. 2011 | CG>TG | ||
| 889 | 9814 G>A | EX9 | nons | 969 G>A | W323X | - | - | - | - | - | - | Saudi | Zaidi et al. 2011 | CG>TG | ||
| 890 | 9814 G>A | EX9 | nons | 969 G>A | W323X | eye | skel | - | - | - | - | Saudi | Zaidi et al. 2011 | CG>TG | ||
| 891 | 9814 G>A | EX9 | nons | 969 G>A | W323X | eye | skel | - | - | - | - | Saudi | Zaidi et al. 2011 | CG>TG | ||
| 892 | 9814 G>A | EX9 | nons | 969 G>A | W323X | - | skel | - | - | - | - | Saudi | Zaidi et al. 2011 | CG>TG | ||
| 893 | 9814 G>A | EX9 | nons | 969 G>A | W323X | - | skel | - | - | - | - | Saudi | Zaidi et al. 2011 | CG>TG | ||
| 894 | 9814 G>A | EX9 | nons | 969 G>A | W323X | - | - | - | - | nbs | - | Saudi | Zaidi et al. 2011 | CG>TG | ||
| 895 | 9814 G>A | EX9 | nons | 969 G>A | W323X | - | - | - | - | nbs | - | Saudi | Zaidi et al. 2011 | CG>TG | ||
| 896 | 9814 G>A | EX9 | nons | 969 G>A | W323X | - | skel | - | cns | - | - | Saudi | Zaidi et al. 2011 | CG>TG | ||
| 897 | 9814 G>A | EX9 | nons | 969 G>A | W323X | - | skel | - | cns | - | - | Saudi | Zaidi et al. 2011 | CG>TG | ||
| 898 | 9814 G>A | EX9 | nons | 969 G>A | W323X | - | - | - | - | - | - | Saudi | Zaidi et al. 2011 | CG>TG | ||
| 899 | 9814 G>A | EX9 | nons | 969 G>A | W323X | - | - | - | - | - | - | Saudi | Zaidi et al. 2011 | CG>TG | ||
| 900 | 9814 G>A | EX9 | nons | 969 G>A | W323X | eye | - | - | - | - | - | Saudi | Zaidi et al. 2011 | CG>TG | ||
| 901 | 9814 G>A | EX9 | nons | 969 G>A | W323X | eye | - | - | - | - | - | Saudi | Zaidi et al. 2011 | CG>TG | ||
| 902 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | eye | skel | - | - | - | - | Saudi | Zaidi et al. 2011 | CG>TG; * | ||
| 903 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | eye | skel | - | - | - | - | Saudi | Zaidi et al. 2011 | CG>TG; * | ||
| 904 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | eye | skel | - | - | - | - | Saudi | Zaidi et al. 2011 | CG>TG; * | ||
| 905 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | eye | skel | - | - | - | - | Saudi | Zaidi et al. 2011 | CG>TG; * | ||
| 906 | 6504 G>A | EX4 | miss | 457 G>A | G153R | eye | skel | - | - | - | - | Saudi | Zaidi et al. 2011 | |||
| 907 | 6504 G>A | EX4 | miss | 457 G>A | G153R | eye | skel | - | - | - | - | Saudi | Zaidi et al. 2011 | |||
| 908 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | cns | - | responsive | Brazilian | Porto et al. 2005 | ||
| 909 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | cns | - | partial | Portuguese | Porto et al. 2005 | ||
| 910 | 9122 T>C | EX8 | miss | Bsr I+ | 833 T>C | I278T | eye | skel | - | cns | - | non | Brazilian | Porto et al. 2005 | ||
| 911 | 6550 T>C | EX4 | miss | 503 T>C | V168A | eye | skel | - | cns | - | non | Brazilian | Porto et al. 2005 | |||
| 912 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | skel | - | cns | - | non | Brazilian | Porto et al. 2005 | CG>TG | |
| 913 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | skel | - | cns | - | non | Brazilian | Porto et al. 2005 | CG>TG | |
| 914 | 6714 C>T | EX5 | miss | FokI+ | 572 C>T | T191M | eye | skel | - | cns | - | non | Brazilian | Porto et al. 2005 | CG>TG | |
| 915 | 6508 T>A | EX4 | miss | 461 T>A | L154Q | - | - | - | - | nbs | - | Korean | Lee et al. 2005 | CG>TG | ||
| 916 | 8238 C>T | EX7 | miss | 770 C>T | T257M | - | - | - | - | nbs | - | Korean | Lee et al. 2005 | CG>TG | ||
| 917 | 6956_6958delGAC | EX6 | del | 700_702delGAC | 234delD | eye | - | - | cns | - | - | Korean | Lee et al. 2005 | |||
| 918 | 8238 C>T | EX7 | miss | 770 C>T | T257M | eye | - | - | cns | - | - | Korean | Lee et al. 2005 | CG>TG | ||
| 919 | 9851 C>T | EX9 | miss | 1006 C>T | R336C | eye | skel | vasc | cns | - | - | Korean | Lee et al. 2005 | CG>TG; * | ||
| 920 | 11664 C>T | EX10 | miss | 1058 C>T | T353M | eye | skel | vasc | cns | - | - | Korean | Lee et al. 2005 | CG>TG | ||
| 921 | 6510 C>T | EX4 | miss | 464C>T | A155V | eye | - | - | - | - | - | Korean | Lee et al. 2005 | |||
| 922 | 9884 G>A | EX9 | miss | 1039 G>A | G347S | eye | - | - | - | - | - | Korean | Lee et al. 2005 | CG>CA | ||
| 923 | 6956_6958delGAC | EX6 | del | 700_702delGAC | 234delD | eye | - | - | cns | - | - | Korean | Lee et al. 2005 | |||
| 924 | 9151 G>A | EX8 | miss | 862 G>A | A288T | eye | - | - | cns | - | - | Korean | Lee et al. 2005 | CG>CA |
|
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