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
|