CBS MUTATION DATABASE

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Id NT number gDNA Exon/Intron cDNA Protein Eye Skel Vasc CNS Disease Cell line Ancestry CpG References
804 9851 9851 C>T EX9 1006 C>T R336C - - - - - 1 Qatar CG>TG; * Zschocke et al. 2009
805 9851 9851 C>T EX9 1006 C>T R336C - - - - - 1 Qatar CG>TG; * Zschocke et al. 2009
806 9851 9851 C>T EX9 1006 C>T R336C - - - - - 2 Qatar CG>TG; * Zschocke et al. 2009
807 9851 9851 C>T EX9 1006 C>T R336C - - - - - 2 Qatar CG>TG; * Zschocke et al. 2009
808 9851 9851 C>T EX9 1006 C>T R336C - - - - - 3 Qatar CG>TG; * Zschocke et al. 2009
809 9851 9851 C>T EX9 1006 C>T R336C - - - - - 3 Qatar CG>TG; * Zschocke et al. 2009
810 9884 9884 G>A EX9 1039 G>A G347S - - - - - 7 Qatar CG>CA Zschocke et al. 2009
811 9884 9884 G>A EX9 1039 G>A G347S - - - - - 7 Qatar CG>CA Zschocke et al. 2009
812 9851 9851 C>T EX9 1006 C>T R336C - - - - - 4 Qatar CG>TG; * Zschocke et al. 2009
813 9851 9851 C>T EX9 1006 C>T R336C - - - - - 4 Qatar CG>TG; * Zschocke et al. 2009
814 9851 9851 C>T EX9 1006 C>T R336C - - - - - 5 Qatar CG>TG; * Zschocke et al. 2009
815 9851 9851 C>T EX9 1006 C>T R336C - - - - - 5 Qatar CG>TG; * Zschocke et al. 2009
816 9851 9851 C>T EX9 1006 C>T R336C - - - - - 6 Qatar CG>TG; * Zschocke et al. 2009
817 9851 9851 C>T EX9 1006 C>T R336C - - - - - 6 Qatar CG>TG; * Zschocke et al. 2009
818 9851 9851 C>T EX9 1006 C>T R336C - - - - - M1 Qatar CG>TG; * El-Said et al. 2006
819 9851 9851 C>T EX9 1006 C>T R336C - - - - - M1 Qatar CG>TG; * El-Said et al. 2006
820 9851 9851 C>T EX9 1006 C>T R336C - - - - - M2 Qatar CG>TG; * El-Said et al. 2006
821 9851 9851 C>T EX9 1006 C>T R336C - - - - - M2 Qatar CG>TG; * El-Said et al. 2006
822 9851 9851 C>T EX9 1006 C>T R336C - - - - - M3 Qatar CG>TG; * El-Said et al. 2006
823 9851 9851 C>T EX9 1006 C>T R336C - - - - - M3 Qatar CG>TG; * El-Said et al. 2006
824 9851 9851 C>T EX9 1006 C>T R336C - - - - - M4 Qatar CG>TG; * El-Said et al. 2006
825 9851 9851 C>T EX9 1006 C>T R336C - - - - - M4 Qatar CG>TG; * El-Said et al. 2006
826 9851 9851 C>T EX9 1006 C>T R336C - - - - - M5 Qatar CG>TG; * El-Said et al. 2006
827 9851 9851 C>T EX9 1006 C>T R336C - - - - - M5 Qatar CG>TG; * El-Said et al. 2006
828 9851 9851 C>T EX9 1006 C>T R336C - - - - - M6 Qatar CG>TG; * El-Said et al. 2006
829 9851 9851 C>T EX9 1006 C>T R336C - - - - - M6 Qatar CG>TG; * El-Said et al. 2006
830 9851 9851 C>T EX9 1006 C>T R336C - - - - - M7 Qatar CG>TG; * El-Said et al. 2006
831 9851 9851 C>T EX9 1006 C>T R336C - - - - - M7 Qatar CG>TG; * El-Said et al. 2006
832 9851 9851 C>T EX9 1006 C>T R336C - - - - - M8 Qatar CG>TG; * El-Said et al. 2006
833 9851 9851 C>T EX9 1006 C>T R336C - - - - - M8 Qatar CG>TG; * El-Said et al. 2006
834 9851 9851 C>T EX9 1006 C>T R336C - - - - - M9 Qatar CG>TG; * El-Said et al. 2006
835 9851 9851 C>T EX9 1006 C>T R336C - - - - - M9 Qatar CG>TG; * El-Said et al. 2006
836 9851 9851 C>T EX9 1006 C>T R336C - - - - - M10 Qatar CG>TG; * El-Said et al. 2006
837 9851 9851 C>T EX9 1006 C>T R336C - - - - - M10 Qatar CG>TG; * El-Said et al. 2006
838 9851 9851 C>T EX9 1006 C>T R336C - - - - - M11 Qatar CG>TG; * El-Said et al. 2006
839 9851 9851 C>T EX9 1006 C>T R336C - - - - - M11 Qatar CG>TG; * El-Said et al. 2006
840 9851 9851 C>T EX9 1006 C>T R336C - - - - - M12 Qatar CG>TG; * El-Said et al. 2006
841 9851 9851 C>T EX9 1006 C>T R336C - - - - - M12 Qatar CG>TG; * El-Said et al. 2006
842 9851 9851 C>T EX9 1006 C>T R336C - - - - - M13 Qatar CG>TG; * El-Said et al. 2006
843 9851 9851 C>T EX9 1006 C>T R336C - - - - - M13 Qatar CG>TG; * El-Said et al. 2006
844 9851 9851 C>T EX9 1006 C>T R336C - - - - - M14 Qatar CG>TG; * El-Said et al. 2006
845 9851 9851 C>T EX9 1006 C>T R336C - - - - - M14 Qatar CG>TG; * El-Said et al. 2006
846 9851 9851 C>T EX9 1006 C>T R336C - - - - - M15 Qatar CG>TG; * El-Said et al. 2006
847 9851 9851 C>T EX9 1006 C>T R336C - - - - - M15 Qatar CG>TG; * El-Said et al. 2006
848 9851 9851 C>T EX9 1006 C>T R336C - - - - - M16 Qatar CG>TG; * El-Said et al. 2006
849 9851 9851 C>T EX9 1006 C>T R336C - - - - - M16 Qatar CG>TG; * El-Said et al. 2006
850 9851 9851 C>T EX9 1006 C>T R336C - - - - - M17 Qatar CG>TG; * El-Said et al. 2006
851 9851 9851 C>T EX9 1006 C>T R336C - - - - - M17 Qatar CG>TG; * El-Said et al. 2006
852 9851 9851 C>T EX9 1006 C>T R336C - - - - - M18 Qatar CG>TG; * El-Said et al. 2006
853 9851 9851 C>T EX9 1006 C>T R336C - - - - - M18 Qatar CG>TG; * El-Said et al. 2006
854 9851 9851 C>T EX9 1006 C>T R336C - - - - - M19 Qatar CG>TG; * El-Said et al. 2006
855 9851 9851 C>T EX9 1006 C>T R336C - - - - - M19 Qatar CG>TG; * El-Said et al. 2006
856 9851 9851 C>T EX9 1006 C>T R336C - - - - - M20 Qatar CG>TG; * El-Said et al. 2006
857 9851 9851 C>T EX9 1006 C>T R336C - - - - - M20 Qatar CG>TG; * El-Said et al. 2006
858 9851 9851 C>T EX9 1006 C>T R336C - - - - - M21 Qatar CG>TG; * El-Said et al. 2006
859 9851 9851 C>T EX9 1006 C>T R336C - - - - - M21 Qatar CG>TG; * El-Said et al. 2006
860 9851 9851 C>T EX9 1006 C>T R336C - - - - - M22 Qatar CG>TG; * El-Said et al. 2006
861 9851 9851 C>T EX9 1006 C>T R336C - - - - - M22 Qatar CG>TG; * El-Said et al. 2006
862 9851 9851 C>T EX9 1006 C>T R336C - - - - - M23 Qatar CG>TG; * El-Said et al. 2006
863 9851 9851 C>T EX9 1006 C>T R336C - - - - - M23 Qatar CG>TG; * El-Said et al. 2006
864 9851 9851 C>T EX9 1006 C>T R336C - - - - - M24 Qatar CG>TG; * El-Said et al. 2006
865 9851 9851 C>T EX9 1006 C>T R336C - - - - - M24 Qatar CG>TG; * El-Said et al. 2006
866 9851 9851 C>T EX9 1006 C>T R336C - - - - - K1 Qatar CG>TG; * El-Said et al. 2006
867 9851 9851 C>T EX9 1006 C>T R336C - - - - - K1 Qatar CG>TG; * El-Said et al. 2006
868 9851 9851 C>T EX9 1006 C>T R336C - - - - - MK1 Qatar CG>TG; * El-Said et al. 2006
869 9851 9851 C>T EX9 1006 C>T R336C - - - - - MK1 Qatar CG>TG; * El-Said et al. 2006
870 9851 9851 C>T EX9 1006 C>T R336C - - - - - MK2 Qatar CG>TG; * El-Said et al. 2006
871 9851 9851 C>T EX9 1006 C>T R336C - - - - - MK2 Qatar CG>TG; * El-Said et al. 2006
872 9851 9851 C>T EX9 1006 C>T R336C - - - - - MK3 Qatar CG>TG; * El-Said et al. 2006
873 9851 9851 C>T EX9 1006 C>T R336C - - - - - MK3 Qatar CG>TG; * El-Said et al. 2006
874 9851 9851 C>T EX9 1006 C>T R336C - - - - - MK4 Qatar CG>TG; * El-Said et al. 2006
875 9851 9851 C>T EX9 1006 C>T R336C - - - - - MK4 Qatar CG>TG; * El-Said et al. 2006
876 9851 9851 C>T EX9 1006 C>T R336C - - - - - MK5 Qatar CG>TG; * El-Said et al. 2006
877 9851 9851 C>T EX9 1006 C>T R336C - - - - - MK5 Qatar CG>TG; * El-Said et al. 2006
878 6956 6956 G>A EX6 700 G>A D234N - - - - - S1 Qatar CG>CA El-Said et al. 2006
879 6956 6956 G>A EX6 700 G>A D234N - - - - - S1 Qatar CG>CA El-Said et al. 2006
880 8238 8238 C>T EX7 770 C>T T257M eye - - cns moderate 1 Sudan CG>TG Zaidi et al. 2011
881 8238 8238 C>T EX7 770 C>T T257M eye - - cns moderate 1 Sudan CG>TG Zaidi et al. 2011
882 9814 9814 G>A EX9 969 G>A W323X eye - - cns moderate 2 Saudi CG>TG Zaidi et al. 2011
883 9814 9814 G>A EX9 969 G>A W323X eye - - cns moderate 2 Saudi CG>TG Zaidi et al. 2011
884 9814 9814 G>A EX9 969 G>A W323X eye skel - cns - 3/II-2 Saudi CG>TG Zaidi et al. 2011
885 9814 9814 G>A EX9 969 G>A W323X eye skel - cns - 3/II-2 Saudi CG>TG Zaidi et al. 2011
886 9814 9814 G>A EX9 969 G>A W323X - - - - - 4 Saudi CG>TG Zaidi et al. 2011
887 9814 9814 G>A EX9 969 G>A W323X - - - - - 4 Saudi CG>TG Zaidi et al. 2011
888 9814 9814 G>A EX9 969 G>A W323X - - - - - 5 Saudi CG>TG Zaidi et al. 2011
889 9814 9814 G>A EX9 969 G>A W323X - - - - - 5 Saudi CG>TG Zaidi et al. 2011
890 9814 9814 G>A EX9 969 G>A W323X eye skel - - - 6/II-1 Saudi CG>TG Zaidi et al. 2011
891 9814 9814 G>A EX9 969 G>A W323X eye skel - - - 6/II-1 Saudi CG>TG Zaidi et al. 2011
892 9814 9814 G>A EX9 969 G>A W323X - skel - - - 9 Saudi CG>TG Zaidi et al. 2011
893 9814 9814 G>A EX9 969 G>A W323X - skel - - - 9 Saudi CG>TG Zaidi et al. 2011
894 9814 9814 G>A EX9 969 G>A W323X - - - - nbs 10 Saudi CG>TG Zaidi et al. 2011
895 9814 9814 G>A EX9 969 G>A W323X - - - - nbs 10 Saudi CG>TG Zaidi et al. 2011
896 9814 9814 G>A EX9 969 G>A W323X - skel - cns - 11 Saudi CG>TG Zaidi et al. 2011
897 9814 9814 G>A EX9 969 G>A W323X - skel - cns - 11 Saudi CG>TG Zaidi et al. 2011
898 9814 9814 G>A EX9 969 G>A W323X - - - - - 12 Saudi CG>TG Zaidi et al. 2011
899 9814 9814 G>A EX9 969 G>A W323X - - - - - 12 Saudi CG>TG Zaidi et al. 2011
900 9814 9814 G>A EX9 969 G>A W323X eye - - - - 14 Saudi CG>TG Zaidi et al. 2011
901 9814 9814 G>A EX9 969 G>A W323X eye - - - - 14 Saudi CG>TG Zaidi et al. 2011
902 9851 9851 C>T EX9 1006 C>T R336C eye skel - - - 7 Saudi CG>TG; * Zaidi et al. 2011
903 9851 9851 C>T EX9 1006 C>T R336C eye skel - - - 7 Saudi CG>TG; * Zaidi et al. 2011
904 9851 9851 C>T EX9 1006 C>T R336C eye skel - - - 8 Saudi CG>TG; * Zaidi et al. 2011
905 9851 9851 C>T EX9 1006 C>T R336C eye skel - - - 8 Saudi CG>TG; * Zaidi et al. 2011
906 6504 6504 G>A EX4 457 G>A G153R eye skel - - - 13/II-3 Saudi Zaidi et al. 2011
907 6504 6504 G>A EX4 457 G>A G153R eye skel - - - 13/II-3 Saudi Zaidi et al. 2011
908 9122 9122 T>C EX8 833 T>C I278T eye skel - cns - 109 Brazilian Porto et al. 2005
909 9122 9122 T>C EX8 833 T>C I278T eye skel - cns - 266 Portuguese Porto et al. 2005
910 9122 9122 T>C EX8 833 T>C I278T eye skel - cns - 251 Brazilian Porto et al. 2005
911 6550 6550 T>C EX4 503 T>C V168A eye skel - cns - 251 Brazilian Porto et al. 2005
912 6714 6714 C>T EX5 572 C>T T191M eye skel - cns - 256 Brazilian CG>TG Porto et al. 2005
913 6714 6714 C>T EX5 572 C>T T191M eye skel - cns - 256 Brazilian CG>TG Porto et al. 2005
914 6714 6714 C>T EX5 572 C>T T191M eye skel - cns - 118 Brazilian CG>TG Porto et al. 2005
915 6508 6508 T>A EX4 461 T>A L154Q - - - - nbs 1 Korean CG>TG Lee et al. 2005
916 8238 8238 C>T EX7 770 C>T T257M - - - - nbs 1 Korean CG>TG Lee et al. 2005
917 6956 6956_6958delGAC EX6 700_702delGAC 234delD eye - - cns - 2 Korean Lee et al. 2005
918 8238 8238 C>T EX7 770 C>T T257M eye - - cns - 2 Korean CG>TG Lee et al. 2005
919 9851 9851 C>T EX9 1006 C>T R336C eye skel vasc cns - 4 Korean CG>TG; * Lee et al. 2005
920 11664 11664 C>T EX10 1058 C>T T353M eye skel vasc cns - 4 Korean CG>TG Lee et al. 2005
921 6510 6510 C>T EX4 464C>T A155V eye - - - - 5 Korean Lee et al. 2005
922 9884 9884 G>A EX9 1039 G>A G347S eye - - - - 5 Korean CG>CA Lee et al. 2005
923 6956 6956_6958delGAC EX6 700_702delGAC 234delD eye - - cns - 6 Korean Lee et al. 2005
924 9151 9151 G>A EX8 862 G>A A288T eye - - cns - 6 Korean CG>CA Lee et al. 2005
1 146 146 C>T EX1 146 C>T P49L eye skel - - - VP Italian CG>TG de Franchis et al.,1998
2 172 172 C>T EX1 172 C>T R58W eye skel vasc cns severe GT,2241 Italian CG>TG de Franchis et al., 1999
3 194 194 A>G EX1 194 A>G H65R - - - - - JP1 Japanese Chen et al. 1999
4 3600 3600 C>G EX2 233 C>G P78R - - vasc - mild 1873 Irish de Franchis et al., 1994
5 3620 3620 G>A EX2 253 G>A G85R eye skel - - mild EH Danish CG>CA MacLean et al., 2002
6 3629 3629 C>T EX2 262 C>T P88S - - vasc - mild RS1 Italian Sebastio et al., 1995
7 3669 3669 T>C EX2 302 T>C L101P - - - - - 245 Irish Gallagher et al., 1998
8 3669 3669 T>C EX2 302 T>C L101P - - - - - 245 Irish Gallagher et al., 1998
9 3669 3669 T>C EX2 302 T>C L101P - - - - - 005 Irish Gallagher et al., 1998
10 3671 3671 A>C 6643 del29 EX2; IVS4 304 A>C; IVS4-29del129 K102Q; del EX5 eye - vasc - severe 3149 Arabian Kozich et al., 1997b
11 3673 3673 G>C EX2 306 G>C K102N - - vasc - mild 1873 Irish de Franchis et al., 1994
12 5840 5840 C>T EX3 341 C>T A114V eye skel vasc cns severe GT,2241 Italian CG>TG de Franchis et al., 1999
13 5840 5840 C>T EX3 341 C>T A114V eye skel vasc - mild 676 Irish/German CG>TG Kozich et al., 1993
14 5840 5840 C>T EX3 341 C>T A114V eye skel - - mild ArD,2242 Italian CG>TG de Franchis et al., 1999
15 5840 5840 C>T EX3 341 C>T A114V - - - - moderate EQ Italian CG>TG
16 5840 5840 C>T EX3 341 C>T A114V eye skel - cns mild LT Italian CG>TG
17 5840 5840 C>T EX3 341 C>T A114V eye skel - cns mild LT Italian CG>TG
18 5845 5845 G>A EX3 346 G>A G116R - - - - moderate LR Italian CG>CA Sperandeo et al., 1996b
19 5845 5845 G>A EX3 346 G>A G116R eye skel vasc cns severe LM Italian CG>CA Sebastio G.*
20 5845 5845 G>A EX3 346 G>A G116R eye skel - - mild AM Italian CG>CA Sebastio G.*
21 5845 5845 G>A EX3 346 G>A G116R - - - - - Pat.-VI Japanese CG>CA Chen et al. 1999
22 5860 5860 C>T EX3 361 C>T R121C - - vasc cns - L204/AB Norwegian/Irish/German CG>TG; * Shih, V.*
23 5860 5860 C>T EX3 361 C>T R121C - - - - asymptomatic L242/F1364 Norwegian/Irish/German CG>TG; * Shih, V.*
24 5861 5861 G>A EX3 362 G>A R121H eye skel - cns - L254 African American CG>CA; * Shih, V.*
25 5861 5861 G>T EX3 362 G>T R121L eye - - - mild R600 Chinese Shih, V.*
26 5861 5861 G>T EX3 362 G>T R121L eye - - - mild R600 Chinese Shih, V.*
27 5872 5872 C>T EX3 373 C>T R125W - skel - - mild HvD(82RD71) Dutch CG>TG Kluijtmans et al., 1998
28 5873 5873 G>A EX3 374 G>A R125Q eye skel - cns severe SGo Portuguese CG>CA Gordon R *
29 5873 5873 G>A EX3 374 G>A R125Q eye skel - cns severe SGo Portuguese CG>CA Gordon R *
30 5873 5873 G>A EX3 374 G>A R125Q eye skel vasc cns severe GL Italian CG>CA Sebastio et al. 1995
31 5873 5873 G>A EX3 374 G>A R125Q eye skel vasc cns severe GL Italian CG>CA Sebastio et al. 1995
32 5873 5873 G>A EX3 374 G>A R125Q - - - - moderate 578 Irish CG>CA Marble et al.,1994
33 5875 5875 A>G EX3 376 A>G M126V - - - - - GT,2241 Italian de Franchis et al., 1999
34 5883 5883 G>C EX3 384 G>C E128D eye skel vasc cns - 977 French Coude et al., 1998
35 5914 5914 G>A EX3 415 G>A G139R - - - - asymptomatic L264/DF Italian/Irish CG>CA Shih et al., 1995
36 5929 5929 G>A EX3 430 G>A E144K eye skel - - moderate L265/DC English/German CG>CA Shih et al., 1995
37 5929 5929 G>A EX3 430 G>A E144K eye skel - cns severe JG English/Welsh CG>CA Gordon et al., 1997
38 5929 5929 G>A EX3 430 G>A E144K eye skel - cns mild RP Australian CG>CA Dawson et al.,1997
39 5929 5929 G>A EX3 430 G>A E144K - - - - - Pat-V Japanese CG>CA Shih et al., 1995
40 5933 5933 C>T EX3 434 C>T P145L eye skel vasc - mild 676 Irish/German CG>TG Kozich et al., 1993
41 5941 5941 G>A EX3 442 G>A G148R nbs nbs nbs nbs asymptomatic TS Japanese CG>CA Ohura,T.*
42 5950 5950 G>A EX3 451 G>A G151R eye skel - cns - L254 African American CG>CA Shih, V.*
43 5950 5950 G>A EX3 451 G>A G151R - skel vasc cns - F1356 African American CG>CA Shih, V.*
44 6503 6503 C>G EX4 456 C>G I152M eye skel vasc cns severe MK Dutch Kluijtmans et al., 1998
45 6503 6503 C>G EX4 456 C>G I152M eye skel vasc cns severe MK Dutch Kluijtmans et al., 1998
46 6503 6503 C>G EX4 456 C>G I152M - skel - - mild JC70(F2115) Dutch Kluijtmans et al., 1999
47 6510 6510 G>A EX4 463 G>A A155T eye skel - cns mild 403, 3178 Czech Janosik et al., 2001
48 6541 6541 G>A EX4 494 G>A C165Y eye skel - cns severe AP (82RD148) Dutch Kluijtmans et al., 1999
49 6541 6541 G>A EX4 494 G>A C165Y eye skel - cns severe AP (82RD148) Dutch Kluijtmans et al., 1999
50 6541 6541 G>A EX4 494 G>A C165Y - - - - mild RB61 Dutch Kluijtmans et al., 1995
51 6541 6541 G>A EX4 494 G>A C165Y eye skel vasc cns moderate HvE(81RD55) Dutch Kluijtmans et al., 1999
52 6541 6541 G>A EX4 494 G>A C165Y eye skel - - moderate MA South African Gordon et al., 1997
53 6549 6549 G>A EX4 502 G>A V168M - - - - - GMO1374 n.d. CG>CA Kruger and Cox,1995
54 6573 6573 G>A EX4 526 G>A E176K eye skel - cns severe 428, 3044 Slovak CG>CA Kozich et al., 1997a
55 6573 6573 G>A EX4 526 G>A E176K eye skel - cns severe 428, 3044 Slovak CG>CA Kozich et al., 1997a
56 6681 6681 T>C EX5 539 T>C V180A eye skel - cns - AZ(80RD194) Dutch Kluijtmans et al., 1999
57 6714 6714 C>T EX5 572 C>T T191M eye - - cns moderate S(C-123) Spanish CG>TG Kluijtmans, L.*
58 6714 6714 C>T EX5 572 C>T T191M eye - - cns moderate S(C-123) Spanish CG>TG Kluijtmans, L.*
59 6735 6735 A>T EX5 593 A>T D198V eye skel - - - MGL231/ER Irish/Italian, Scandinavian Shih, V.*
60 6927 6927 G>A EX6 671 G>A R224H - - - - - GMO1559 n.d. CG>CA Kruger and Cox,1995
61 6932 6932 G>A EX6 676 G>A A226T nbs nbs nbs nbs asymptomatic 4331 African American CG>CA Shan and Kruger,1998
62 6940 6940 C>G EX6 684 C>G N228K - - - - asymptomatic 216 Irish Gallagher et al., 1998
63 6956 6956 G>A EX6 700 G>A D234N eye skel - cns - MGL232 Puerto3 Rican CG>CA Shih, V.*
64 6971 6971 G>A EX6 715 G>A E239K - - vasc - mild 1873 Irish de Franchis et al., 1994
65 8238 8238 C>T EX7 770 C>T T257M eye skel - cns moderate NO Italian CG>TG Sebastio et al., 1995
66 8238 8238 C>T EX7 770 C>T T257M eye skel - cns moderate NO Italian CG>TG Sebastio et al., 1995
67 8243 8243 G>A EX7 775 G>A G259S - - - - - Pat-III Japanese CG>CA Chen et al. 1999
68 8253 8253 C>T EX7 785 C>T T262M - - - cns mild F542 Italian CG>TG Shih, V.*
69 8253 8253 C>T EX7 785 C>T T262M - - - cns mild F542 Italian CG>TG Shih, V.*
70 8253 8253 C>T EX7 785 C>T T262M eye skel - cns moderate R510 Ir, Fr/Engl, Fr CG>TG Shih, V.*
71 8253 8253 C>T EX7 785 C>T T262M - - - - asymptomatic L242/F1364 Norwegian/Irish/German CG>TG Shih, V.*
72 8253 8253 C>T EX7 785 C>T T262M eye skel - cns moderate N2 Norwegian CG>TG Kim et al. 1997
73 8253 8253 C>T EX7 785 C>T T262M eye skel - cns moderate N2 Norwegian CG>TG Kim et al. 1997
74 8265 8265 G>A EX7 797 G>A R266K eye - - - mild N1 Norwegian Kim et al., 1997
75 8265 8265 G>A EX7 797 G>A R266K eye - - - mild N1 Norwegian Kim et al., 1997
76 8265 8265 G>A EX7 797 G>A R266K eye - - - mild N4a Norwegian Kim et al., 1997
77 8265 8265 G>A EX7 797 G>A R266K eye - vasc cns mild N4b Norwegian Kim et al., 1997
78 8265 8265 G>A EX7 797 G>A R266K eye - vasc - - N8 Norwegian Kim et al., 1997
79 8265 8265 G>A EX7 797 G>A R266K eye - - - mild N9 Norwegian Kim et al., 1997
80 8265 8265 G>A EX7 797 G>A R266K eye - - - mild N9 Norwegian Kim et al., 1997
81 9122 9122 T>C EX8 833 T>C I278T eye skel - - mild 366 Jewish Kozich and Kraus,1992
82 9122 9122 T>C EX8 833 T>C I278T eye - - - mild L209/WS Polish Shih et al. 1995
83 9122 9122 T>C EX8 833 T>C I278T eye - - - mild L209/WS Polish Shih et al. 1995
84 9122 9122 T>C EX8 833 T>C I278T eye - - - mild L188/TK German/Norwegian Shih et al. 1995
85 9122 9122 T>C EX8 833 T>C I278T eye - - - mild L188/TK German/Norwegian Shih et al. 1995
86 9122 9122 T>C EX8 833 T>C I278T - - - - asymptomatic L238/AG Jewish Shih V. *
87 9122 9122 T>C EX8 833 T>C I278T - - - - asymptomatic L264/DF Italian/Irish Shih et al. 1995
88 9122 9122 T>C EX8 833 T>C I278T eye skel - - moderate L265/DC German/English Shih et al., 1995
89 9122 9122 T>C EX8 833 T>C I278T eye skel vasc cns - L273 Portug/Dutch/Jew Shih et al. 1995
90 9122 9122 T>C EX8 833 T>C I278T eye skel - - mild AM Italian Sebastio G.*
91 9122 9122 T>C EX8 833 T>C I278T - - - - - HG Italian/French Kozich and Kraus,1992
92 9122 9122 T>C EX8 833 T>C I278T - - - - - AS Italian Sebastio G.*
93 9122 9122 T>C EX8 833 T>C I278T eye - - - mild GC Italian Sperandeo et al., 1996a
94 9122 9122 T>C EX8 833 T>C I278T eye skel - - mild NM2 Italian Sebastio et al. 1995
95 9122 9122 T>C EX8 833 T>C I278T eye skel - - mild NM2 Italian Sebastio et al. 1995
96 9122 9122 T>C EX8 833 T>C I278T eye skel vasc cns moderate HvE(81RD55) Dutch Kluijtmans et al. 1999
97 9122 9122 T>C EX8 833 T>C I278T eye skel - - - MB(81RD370) Dutch Kluijtmans L.A.J.*
98 9122 9122 T>C EX8 833 T>C I278T eye skel - - moderate WS/J63 Dutch Kluijtmans et al. 1999
99 9122 9122 T>C EX8 833 T>C I278T eye skel vasc cns severe GE,84RD496 Dutch Kluijtmans et al. 1999
100 9122 9122 T>C EX8 833 T>C I278T eye skel vasc cns severe GE,84RD496 Dutch Kluijtmans et al. 1999
101 9122 9122 T>C EX8 833 T>C I278T eye skel vasc - severe H.B-G Dutch Kluijtmans et al. 1999
102 9122 9122 T>C EX8 833 T>C I278T eye skel vasc - severe H.B-G Dutch Kluijtmans et al. 1999
103 9122 9122 T>C EX8 833 T>C I278T eye skel - - moderate JM61 Dutch Kluijtmans et al. 1999
104 9122 9122 T>C EX8 833 T>C I278T eye skel - cns moderate JU(85RD346) Dutch Kluijtmans et al. 1999
105 9122 9122 T>C EX8 833 T>C I278T eye skel - cns moderate JU(85RD346) Dutch Kluijtmans et al. 1999
106 9122 9122 T>C EX8 833 T>C I278T eye skel vasc - moderate JR42 Dutch Kluijtmans et al. 1999
107 9122 9122 T>C EX8 833 T>C I278T eye skel vasc - severe B-H 50(78RD260) Dutch Kozich and Kraus,1992
108 9122 9122 T>C EX8 833 T>C I278T eye skel vasc - severe B-H 50(78RD260) Dutch Kozich and Kraus,1992
109 9122 9122 T>C EX8 833 T>C I278T - - vasc - mild RS1 Italian Sebastio et al., 1995
110 9122 9122 T>C EX8 833 T>C I278T - - - - mild RB58 Dutch Kluijtmans et al. 1999
111 9122 9122 T>C EX8 833 T>C I278T - - - - mild RB58 Dutch Kluijtmans et al. 1999
112 9122 9122 T>C EX8 833 T>C I278T eye skel - - mild RP2 Dutch Kluijtmans et al. 1999
113 9122 9122 T>C EX8 833 T>C I278T eye skel - - mild LK61 Dutch Kluijtmans et al. 1999
114 9122 9122 T>C EX8 833 T>C I278T - skel - - mild JC70(F2115) Dutch Kluijtmans et al., 1999
115 9122 9122 T>C EX8 833 T>C I278T - - - - mild PA(C110) Dutch Kluijtmans L.A.J.*
116 9122 9122 T>C EX8 833 T>C I278T - - - - mild PA(C110) Dutch Kluijtmans L.A.J.*
117 9122 9122 T>C EX8 833 T>C I278T eye skel - cns severe AB(78RD133) Dutch Kluijtmans L.A.J.*
118 9122 9122 T>C EX8 833 T>C I278T eye skel - cns severe AB(78RD133) Dutch Kluijtmans L.A.J.*
119 9122 9122 T>C EX8 833 T>C I278T - - - - - GMO1808 ? Kozich and Kraus,1992
120 9122 9122 T>C EX8 833 T>C I278T - - - - mild DS Germ/Engl Tsai et al. 1997b
121 9122 9122 T>C EX8 833 T>C I278T - - - - mild AC Ital/Pol Tsai et al. 1997b
122 9122 9122 T>C EX8 833 T>C I278T eye - - - mild CG ? Tsai et al. 1996
123 9122 9122 T>C EX8 833 T>C I278T - - - - - EP Welsh Tsai et al. 1996
124 9122 9122 T>C EX8 833 T>C I278T eye - vasc - severe TD ? Tsai M.Y. *
125 9122 9122 T>C EX8 833 T>C I278T eye - - - mild MP ? Tsai et al. 1996
126 9122 9122 T>C EX8 833 T>C I278T eye - - - mild MP ? Tsai et al. 1996
127 9122 9122 T>C EX8 833 T>C I278T eye skel - - severe IWa Australian Dawson et al.,1997
128 9122 9122 T>C EX8 833 T>C I278T eye skel - cns moderate 427, 3043 Czech Janosik et al., 2001
129 9122 9122 T>C EX8 833 T>C I278T eye skel - cns mild 404 Czech Janosik et al., 2001
130 9122 9122 T>C EX8 833 T>C I278T eye skel - cns mild 403 Czech Janosik et al., 2001
131 9122 9122 T>C EX8 833 T>C I278T eye - vasc - mild 426, 3042 Czech Janosik et al., 2001
132 9122 9122 T>C EX8 833 T>C I278T eye - vasc - mild 426, 3042 Czech Janosik et al., 2001
133 9122 9122 T>C EX8 833 T>C I278T - - - - - 697 Hungarian Kozich V.*
134 9122 9122 T>C EX8 833 T>C I278T - - - - moderate N6a Norwegian Kim et al. 1997
135 9122 9122 T>C EX8 833 T>C I278T eye skel - - - N7 Norwegian Kim et al. 1997
136 9122 9122 T>C EX8 833 T>C I278T eye skel - - mild AS(608) German Linnebank, M.*
137 9122 9122 T>C EX8 833 T>C I278T eye - vasc - mild NM1 German Linnebank, M.*
138 9122 9122 T>C EX8 833 T>C I278T eye - vasc - mild NM1 German Linnebank, M.*
139 9122 9122 T>C EX8 833 T>C I278T eye - - - mild MW German Linnebank, M.*
140 9122 9122 T>C EX8 833 T>C I278T eye - - - mild MW German Linnebank, M.*
141 9122 9122 T>C EX8 833 T>C I278T eye - vasc cns moderate KJ Danish Gaustadnes et al., 1998
142 9122 9122 T>C EX8 833 T>C I278T - - vasc - moderate MP1 Danish MacLean et al., 2002
143 9158 9158 C>T EX8 869 C>T P290L - - - - moderate LR Spanish CG>TG Sperandeo et al., 1995
144 9193 9193 G>A EX8 904 G>A E302K eye skel vasc cns severe ArD,2242 Italian CG>CA de Franchis et al., 1999
145 9202 9202 G>A EX8 913 G>A G305R eye - - - mild GC Italian Sperandeo et al., 1996a
146 9208 9208 G>A EX8 919 G>A G307S - - - - - 3055 Irish CG>CA Kraus J. P.*
147 9208 9208 G>A EX8 919 G>A G307S - - - - - 3055 Irish CG>CA Kraus J.P. *
148 9208 9208 G>A EX8 919 G>A G307S eye skel vasc cns severe 3079/L166 Irish CG>CA Hu et al., 1993
149 9208 9208 G>A EX8 919 G>A G307S eye skel vasc cns severe 3079/L166 Irish CG>CA Hu et al., 1993
150 9208 9208 G>A EX8 919 G>A G307S eye skel - cns moderate L246 Irish CG>CA Hu et al., 1993
151 9208 9208 G>A EX8 919 G>A G307S eye skel - cns moderate L246 Irish CG>CA Hu et al., 1993
152 9208 9208 G>A EX8 919 G>A G307S - - - - - L203 German/French, Dutch, Irish, English CG>CA Hu et al., 1993
153 9208 9208 G>A EX8 919 G>A G307S - - - - - L215 English, Irish, German/Italian, German CG>CA Hu et al., 1993
154 9208 9208 G>A EX8 919 G>A G307S - - - - - L183 English/Scotish CG>CA Hu et al., 1993
155 9208 9208 G>A EX8 919 G>A G307S - - - - - L219 Irish, Jewish/Ukrainien, Jewish CG>CA Hu et al., 1993
156 9208 9208 G>A EX8 919 G>A G307S - - - - asymptomatic L171/JL French/Scottish, French CG>CA Hu et al., 1993
157 9208 9208 G>A EX8 919 G>A G307S eye skel - - severe ST Irish CG>CA Gordon R.*
158 9208 9208 G>A EX8 919 G>A G307S eye skel - - severe ST Irish CG>CA Gordon R.*
159 9208 9208 G>A EX8 919 G>A G307S - - - - - 3066 English CG>CA de-Franchis et al. 1999
160 9208 9208 G>A EX8 919 G>A G307S - - - - - 040 Irish CG>CA Gallager et al. 1998
161 9208 9208 G>A EX8 919 G>A G307S - - - - - 002 Irish. CG>CA Gallager et al. 1998
162 9208 9208 G>A EX8 919 G>A G307S - - - - - 002 Irish CG>CA Gallager et al. 1998
163 9208 9208 G>A EX8 919 G>A G307S - - - - - 010 Irish CG>CA Gallager et al. 1998
164 9208 9208 G>A EX8 919 G>A G307S - - - - - 010 Irish CG>CA Gallager et al. 1998
165 9208 9208 G>A EX8 919 G>A G307S - - - - - 061 Irish CG>CA Gallager et al. 1998
166 9208 9208 G>A EX8 919 G>A G307S - - - - - 061 Irish CG>CA Gallager et al. 1998
167 9208 9208 G>A EX8 919 G>A G307S - - - - - 117 Irish CG>CA Gallager et al. 1998
168 9208 9208 G>A EX8 919 G>A G307S - - - - - 117 Irish CG>CA Gallager et al. 1998
169 9208 9208 G>A EX8 919 G>A G307S - - - - - 157 Irish CG>CA Gallager et al. 1998
170 9208 9208 G>A EX8 919 G>A G307S - - - - - 157 Irish CG>CA Gallager et al. 1998
171 9208 9208 G>A EX8 919 G>A G307S - - - - - 224 Irish CG>CA Gallager et al. 1998
172 9208 9208 G>A EX8 919 G>A G307S - - - - - 224 Irish CG>CA Gallager et al. 1998
173 9208 9208 G>A EX8 919 G>A G307S - - - - - 227 Irish CG>CA Gallager et al. 1998
174 9208 9208 G>A EX8 919 G>A G307S - - - - - 227 Irish CG>CA Gallager et al. 1998
175 9208 9208 G>A EX8 919 G>A G307S - - - - - 062 Irish CG>CA Gallager et al. 1998
176 9208 9208 G>A EX8 919 G>A G307S - - - - - 062 Irish CG>CA Gallager et al. 1998
177 9208 9208 G>A EX8 919 G>A G307S - - - - - 215 Irish CG>CA Gallager et al. 1998
178 9208 9208 G>A EX8 919 G>A G307S - - - - - 066 Irish CG>CA Gallager et al. 1998
179 9208 9208 G>A EX8 919 G>A G307S - - - - - 240 Irish CG>CA Gallager et al. 1998
180 9208 9208 G>A EX8 919 G>A G307S - - - - - 008 Irish CG>CA Gallager et al. 1998
181 9208 9208 G>A EX8 919 G>A G307S - - - - - 024 Irish CG>CA Gallager et al. 1998
182 9208 9208 G>A EX8 919 G>A G307S - - - - - 228 Irish CG>CA Gallager et al. 1998
183 9208 9208 G>A EX8 919 G>A G307S - - - - - N-P0H17 Norwegian CG>CA Gallager P.M.*
184 9208 9208 G>A EX8 919 G>A G307S eye skel - cns - R529 Irish CG>CA Shih V.*
185 9208 9208 G>A EX8 919 G>A G307S - - - - - R527 Port/Brazil CG>CA Shih V.*
186 9208 9208 G>A EX8 919 G>A G307S - - - - - R496 Port/Brazil CG>CA Shih V. *
187 9208 9208 G>A EX8 919 G>A G307S - - - - - R522 Portuguese CG>CA Shih V.*
188 9208 9208 G>A EX8 919 G>A G307S eye skel - cns moderate R510 Ir, Fr/Engl, Fr CG>CA Shih, V.*
189 9208 9208 G>A EX8 919 G>A G307S - - - - - R718 ? CG>CA Shih V.*
190 9208 9208 G>A EX8 919 G>A G307S - - - - - R718 ? CG>CA Shih V.*
191 9208 9208 G>A EX8 919 G>A G307S - - - - - BFP700 Af. Am. CG>CA Shih V.*
192 9208 9208 G>A EX8 919 G>A G307S - - - - asymptomatic BFP799 English CG>CA Shih V.*
193 9208 9208 G>A EX8 919 G>A G307S - - - - - FH Australian CG>CA Gordon R.*
194 9208 9208 G>A EX8 919 G>A G307S - - - - - FH Australian CG>CA Gordon R.*
195 9208 9208 G>A EX8 919 G>A G307S - - - - - GMO1376 ? CG>CA Kruger W. *
196 9208 9208 G>A EX8 919 G>A G307S - - - - - GMO1128 ? CG>CA Kruger W.*
197 9208 9208 G>A EX8 919 G>A G307S - - - - moderate DH English, Irish, Dutch, German CG>CA Tsai et al., 1997a
198 9208 9208 G>A EX8 919 G>A G307S eye skel - cns severe AP ? CG>CA Tsai et al. 1996
199 9208 9208 G>A EX8 919 G>A G307S eye skel - cns severe AP ? CG>CA Tsai et al. 1996
200 9208 9208 G>A EX8 919 G>A G307S - - - - severe DA ? CG>CA Tsai et al. 1996
201 9208 9208 G>A EX8 919 G>A G307S - - - - severe DA ? CG>CA Tsai et al. 1996
202 9208 9208 G>A EX8 919 G>A G307S - - - - - ACo ? CG>CA Tsai M.Y. *
203 9208 9208 G>A EX8 919 G>A G307S eye - - cns moderate N3 Norwegian CG>CA Kim et al., 1997
204 9208 9208 G>A EX8 919 G>A G307S - - vasc - mild N5 Norwegian CG>CA Kim et al., 1997
205 9208 9208 G>A EX8 919 G>A G307S eye - vasc - moderate N10 Norwegian CG>CA Kim et al., 1997
206 9208 9208 G>A EX8 919 G>A G307S eye - vasc - moderate N10 Norwegian CG>CA Kim et al., 1997
207 9208 9208 G>A EX8 919 G>A G307S - - - - asymptomatic 216 Irish CG>CA Gallagher et al., 1998
208 9804 9804 T>C EX9 959 T>C V320A eye - - cns moderate N3 Norwegian Kim et al., 1997
209 9804 9804 T>C EX9 959 T>C V320A - - vasc - mild N5 Norwegian Kim et al., 1997
210 9837 9837 C>A EX9 992 C>A A331E - - - - - CWe Australian Dawson et al.,1997
211 9837 9837 C>T EX9 992 C>T A331V - - - - - GMO1463 n.d. CG>TG Kruger and Cox,1995
212 9851 9851 C>T EX9 1006 C>T R336C - - - - - 3065 English CG>TG; * de Franchis et al.,1999
213 9852 9852 G>A EX9 1007 G>A R336H eye - - cns mild 7215 North African CG>CA; * Coude et al., 1998
214 9852 9852 G>A EX9 1007 G>A R336H eye - - cns mild 7215 North African CG>CA; * Coude et al., 1998
215 11661 11661 G>A EX10 1055 G>A S352N eye skel - cns moderate 217 Haitian Shih, V.*
216 11664 11664 C>T EX10 1058 C>T T353M eye skel - - severe IWa Australian CG>TG Dawson et al.,1997
217 11664 11664 C>T EX10 1058 C>T T353M nbs nbs nbs nbs asymptomatic 4331 African American CG>TG Shan and Kruger,1998
218 11666 11666 G>A EX10 1060 G>A V354M eye skel - cns - 3013 Portuguese Coude et al., 1998
219 11669 11669G>C EX10 1063G>C A355P - - - - - 066 Irish Gallagher et al., 1998
220 11687 11687 G>A EX10 1081G>A A361T eye skel vasc - severe CAMG Portuguese CG>CA Castro et al., 1999
221 11687 11687 G>A EX10 1081G>A A361T eye skel vasc - severe CAMG Portuguese CG>CA Castro et al., 1999
222 11711 11711 C>T EX10 1105 C>T R369C - - - - moderate N6a Norwegian CG>TG; * Kim et al., 1997
223 11711 11711 C>T EX10 1105 C>T R369C eye skel vasc cns severe GM-V29 Dutch CG>TG; * Kluijtmans et al., 1999
224 11712 11712 G>A EX10 1106 G>A R369H - - - - - Pat Irish CG>CA; * Valle,D.*
225 11712 11712 G>A EX10 1106 G>A R369H - - - - - Pat Irish CG>CA; * Valle,D.*
226 11715 11715 G>A EX10 1109 G>A C370Y - - - - mild AC It/Pol Tsai et al., 1997b
227 11717 11717 G>A EX10 1111 G>A V371M eye skel - - moderate JM61 Dutch CG>CA Kluijtmans et al.,1999
228 11717 11717 G>A EX10 1111 G>A V371M eye skel vasc - moderate JR42 Dutch CG>CA Kluijtmans et al.,1999
229 12888 12888 A>G EX11 1150 A>G K384E eye skel vasc - severe P465 French Aral et al., 1997
230 12888 12888 A>G EX11 1150 A>G K384E eye skel vasc - severe P465 French Aral et al., 1997
231 12890 12890 G>C EX11 1152 G>C K384N eye skel - cns moderate AO(518) Lebanese Linnebank, M.*
232 12890 12890 G>C EX11 1152 G>C K384N eye skel - cns moderate AO(518) Lebanese Linnebank, M.*
233 12911 12911 G>T EX11 1173 G>T M391I eye skel - cns - SG(584) German Linnebank, M.*
234 13296 13296 C>A EX12 1301 C>A T434N - skel - - mild HvD(82RD71) Dutch Kluijtmans et al., 1998
235 13299 13299T>C EX12 1304T>C I435T eye - - cns moderate PQ Danish MacLean et al., 2002
236 13311 13311 G>A EX12 1316 G>A R439Q - - - - mild DS Engl/Germ CG>CA Tsai et al. 1997b
237 13311 13311 G>A EX12 1316 G>A R439Q eye skel - cns mild RP Australian CG>CA Dawson et al.,1997
238 13325 13325 G>A EX12 1330 G>A D444N - skel - - mild JL75(84RD400) Dutch CG>CA Kluijtmans et al., 1996
239 13325 13325 G>A EX12 1330 G>A D444N - skel - - mild JL75(84RD400) Dutch CG>CA Kluijtmans et al., 1996
240 13325 13325 G>A EX12 1330 G>A D444N - skel vasc - MGF1116 Venezuelan CG>CA Shih V.*
241 13325 13325 G>A EX12 1330 G>A D444N eye skel vasc - mild AP(718) German CG>CA Linnebank, M..*
242 13325 13325 G>A EX12 1330 G>A D444N eye skel - - mild EH Danish CG>CA MacLean et al., 2002
243 13972 13972 C>T EX13 1397C>T S466L - - vasc - moderate MP1 Danish CG>TG MacLean et al., 2002
244 15304 15304 C>T EX14 1471 C>T R491C eye skel vasc cns severe GM-V29 Dutch CG>TG Kluijtmans et al., 1998
245 18255 18255 T>A EX16 1601 T>A V534D - - - - - C1995 French Coude et al., 1995
246 18270 18270 T>C EX16 1616 T>C L539S eye skel vasc cns severe P325 French Aral et al., 1997
247 18270 18270 T>C EX16 1616 T>C L539S eye skel vasc cns severe P325 French Aral et al., 1997
248 12908 12908 G>A EX11 1170 G>A W390X eye skel - - moderate MGL199/DM Fr.Canadien/Engl Shih, V.*
249 13221 13221 G>A EX12 1226 G>A W409X eye skel - cns severe 174, 3163 Slovak Janosik et al., 2001
250 13254 13254 C>G EX12 1259C>G S420X eye skel - cns - 323 North African Coude et al., 1998
251 13316 13316 A>T EX12 1321 A>T K441X - - - - - Pat-IV Japanese Chen et al. 1999
252 19 19insC EX1 19insC fs, stop at aa 36 eye skel - cns severe 419, 3176 Slovak Kozich et al., 1997b
253 19 19insC EX1 19insC fs, stop at aa 36 eye skel - cns severe 419, 3176 Slovak Kozich et al., 1997b
254 13221 13221 G>A EX12 1226 G>A W409X - skel vasc cns severe 418, 2102 Czech Janosik et al., 2001
255 210 210 G>A IN1 IVS1+1G>A del ex1 or 153del57 eye skel - cns severe JG English/Welsh Gordon et al., 1997
256 3680 3680 C>G EX2 313 C>G 313del4, fs eye skel - - moderate MGL199/DM FrCan/Engl. Shih, V.*
257 6499 n.d. n.d. 452del 80 del ex 4 eye skel - cns moderate 217 Haitian Shih, V.*
258 210 210 G>A IN1 IVS1+1G>A del ex1 or 153del57 - - - - - 566AP Brazilian Linnebank, M.*
259 6540 6540del22 EX4 493del22 fs,del aa 165-172 eye - vasc cns moderate KJ Danish Gaustadnes et al., 1998
260 6643 6643del29 IN4 IVS4-31del 29 del ex 5 eye - vasc - severe 3149 Arabian Kozich et al., 1997b
261 6675 n.d. n.d. 533 del 18 del aa 179-184 eye skel vasc cns moderate L227/BL German/Polish,French Shih et al. 1995
262 8207 n.d. n.d. 739del 30 del aa 247-256 eye skel vasc cns severe CM German Koch et al., 1994
263 8276 8276del3 EX7 808del3 del E270 eye skel - cns - SG(584) German Koch et al., 1994
264 8297 8297 G>A IN7 IVS7+1 G>A 828ins104, 737del92 eye skel - cns severe 405, 3166 Czech Janosik et al., 2001
265 9244 9244G>A IN8 IVS8+1G>A del ex 8 eye - - cns moderate PQ Danish MacLean et al., 2002
266 9800 n.d. n.d. 955del85 del ex 9 - - - - - Pat-V Japanese Chen et al. 1999
267 13000 13000del99 IN11 IVS11+39del99 n.d. eye skel - cns severe 405 ,3166 Czech Janosik et al., 2001
268 13130 13130del49 IN11 IVS11-89del49 n.d. eye skel - - - VP Italian Sperandeo et al., 1995
269 12884 n.d. n.d. 1146 del 78 del ex 11 - - - - - ? n.d. Kruger and Cox,1995
270 13217 13217 A>C IN11 IVS11-2 A>C del ex 12 eye skel - cns severe 405 ,3166 Czech Janosik et al., 2001
271 13217 13217 A>C IN11 IVS11-2 A>C del ex 12 eye skel - cns severe 174, 3163 Slovak Janosik et al., 2001
272 13217 13217 A>C IN11 IVS11-2 A>C del ex 12 eye skel - cns moderate 652 Slovak Janosik et al., 2001
273 13217 13217 A>C IN11 IVS11-2 A>C del ex 12 eye skel - cns severe 429, 3045 Slovak Janosik et al., 2001
274 13217 13217 A>C IN11 IVS11-2 A>C del ex 12 eye skel - cns moderate 427, 3043 Czech Janosik et al., 2001
275 13217 13217 A>C IN11 IVS11-2 A>C del ex 12 eye skel vasc cns severe CM German Koch et al., 1994
276 13217 13217 A>C IN11 IVS11-2 A>C del ex 12 eye skel - - mild 366 Jewish Kozich and Kraus,1992
277 13217 13217 A>C IN11 IVS11-2 A>C del ex 12 eye - vasc - severe TD ? Tsai M.Y. *
278 13217 13217 A>C IN11 IVS11-2 A>C del ex 12 eye skel vasc cns severe MK2 German Koch et al. 1994
279 13217 13217 A>C IN11 IVS11-2 A>C del ex 12 eye skel vasc cns severe MK2 German Koch et al. 1994
280 13217 13217 A>C IN11 IVS11-2 A>C del ex 12 - skel - - mild CK Austrian Linnebank, M.*
281 13217 13217 A>C IN11 IVS11-2 A>C del ex 12 eye skel - cns moderate EK Turkish Linnebank, M.*
282 13554 13554 G>A IN12 IVS 12+1 G>A del ex 12 - - - - moderate DH English, Irish, Dutch, German Tsai et al., 1997a
283 13933 13933 G>C IVS12 IVS12-1 G>C del exon 13 - skel - cns severe BO(599) Turkish Linnebank, M.*
284 13933 13933 G>C IVS12 IVS12-1 G>C del exon 13 - skel - cns severe BO(599) Turkish Linnebank, M.*
285 18213 18213insACCACAG EX16 1559insACCACAG S520R, fs, stop at aa540 eye - vasc cns - 960/CL S. Afr. Black Ben de Wet JM*
286 18220 18220delG EX16 1566delG fs, stop at aa 540 eye skel vasc - severe MASP Portuguese Castro et al., 1999
287 18220 18220delG EX16 1566delG fs, stop at aa 540 eye skel vasc - severe PADG Portuguese Castro et al., 1999
288 18220 18220delG EX16 1566delG fs, stop at aa 540 eye skel vasc - severe PADG Portuguese Castro et al., 1999
289 18244 18244del4 EX16 1590del4 1590delGTTC, fs - - - - - Pat-III Japanese Chen et al. 1999
290 18245 18245del4 EX16 1591del4 1591delTTCG, fs - - - - - ? Japanese Ohura,T.*
291 18276 18276ins4 EX16 1622ins4 1622insTGGA, fs eye skel - - moderate MA South African Gordon et al., 1997
292 18281 18281del19 EX16 1627del19 fs, stop at aa 568 - - - - severe 3148 Arabian Kozich et al., 1997b
293 18281 18281del19 EX16 1627del19 fs, stop at aa 568 - - - - severe 3148 Arabian Kozich et al., 1997b
294 3600 3600 C>G EX2 233 C>G P78R - skel vasc cns severe 1875 Irish de Franchis et al., 1994
295 6971 6971 G>A EX6 715 G>A E239K - skel vasc cns severe 1875 Irish de Franchis et al., 1994
296 9122 9122 T>C EX8 833 T>C I278T eye skel vasc cns severe LM Italian Sebastio G.*
297 5892 5892 G>C EX3 393 G>C E131D - - - - moderate 578 Irish Marble et al.,1994
298 8265 8265 G>A EX7 797 G>A R266K eye - - - mild N4a Norwegian Kim et al., 1997
299 8265 8265 G>A EX7 797 G>A R266K eye - vasc cns mild N4b Norwegian Kim et al., 1997
300 9122 9122 T>C EX8 833 T>C I278T eye skel - - moderate WS/J63 Dutch Kluijtmans et al. 1999
301 3629 3629 C>T EX2 262 C>T P88S eye skel - - mild SS Italian Sebastio et al., 1995
302 9122 9122 T>C EX8 833 T>C I278T eye skel - - mild SS Italian Sebastio et al., 1995
303 9122 9122 T>C EX8 833 T>C I278T eye skel - - mild LK61 Dutch Kluijtmans et al. 1999
304 6510 6510 G>A EX4 463 G>A A155T eye skel - cns mild 404 Czech Janosik et al., 2001
305 9122 9122 T>C EX8 833 T>C I278T - - - cns moderate N6b Norwegian Kim et al. 1997
306 11711 11711 C>T EX10 1105 C>T R369C - - - cns moderate N6b Norwegian CG>TG; * Kim et al., 1997
307 9193 9193 G>A EX8 904 G>A E302K eye skel vasc cns severe AnD Italian CG>CA de Franchis et al., 1999
308 5840 5840 C>T EX3 341 C>T A114V eye skel vasc cns severe AnD Italian CG>TG de Franchis et al., 1999
309 153 n.d. n.d. del bp 153-209 del aa 52-70 - - - - asymptomatic L171/JL French/Scottish, French Hu et al., 1993
310 9208 9208 G>A EX8 919 G>A G307S - - - - asymptomatic 3064 English CG>CA de-Franchis et al. 1999
311 9851 9851 C>T EX9 1006 C>T R336C - - - - asymptomatic 3064 English CG>TG; * de-Franchis et al. 1999
312 3669 3669 T>C EX2 302 T>C L101P - - - - - 040 Irish Gallagher et al., 1998
313 8253 8253 C>T EX7 785 C>T T262M - - - - - 215 Irish CG>TG Gallagher et al., 1998
314 9122 9122 T>C EX8 833 T>C I278T - - - - - 243 Irish Gallagher P.M.*
315 13219 n.d. n.d. del ex 12, del ex 11 and del ex 12, del ex 11 and - - - - - Pat-IV Japanese Chen et al. 1999
316 9122 9122 T>C EX8 833 T>C I278T eye skel vasc cns moderate L227/BL German/Polish,French Shih et al. 1995
317 5929 5929 G>A EX3 430 G>A E144K eye skel - cns mild 403, 3178 Czech CG>CA Janosik et al., 2001
318 5929 5929 G>A EX3 430 G>A E144K eye skel - cns mild 404 Czech CG>CA Janosik et al., 2001
319 5840 5840 C>T EX3 341 C>T A114V - skel vasc cns severe 418, 2102 Czech CG>TG Kozich et al., 1997b
320 19 19insC EX1 19insC fs, stop at aa 36 eye skel - cns severe 429, 3045 Slovak Janosik et al., 2001
321 6541 6541 G>A EX4 494 G>A C165Y eye skel - cns severe 3180 Czech Janosik et al., 2001
322 6541 6541 G>A EX4 494 G>A C165Y eye skel - cns severe 3180 Czech Janosik et al., 2001
323 28 28delG EX1 28delG fs, stop at aa 81 eye skel vasc cns severe 2103, 2678 Czech Janosik et al., 2001
324 3576 3576 G>C IN1 IVS1-1G>C 210del26, fs stop at aa 9 eye skel vasc cns severe 2103, 2678 Czech Janosik et al., 2001
325 194 194 A>G EX1 194 A>G H65R eye skel - cns severe 2107 Czech Janosik et al., 2001
326 6510 6510 G>A EX4 463 G>A A155T eye skel - - severe 3177 Czech Janosik et al., 2001
327 5929 5929 G>A EX3 430 G>A E144K eye skel - - severe 3177 Czech CG>CA Janosik et al., 2001
328 13217 13217 A>C IN11 IVS11-2 A>C del ex 12 eye skel - - severe 3177 Czech Janosik et al., 2001
329 13217 13217 A>C IN11 IVS11-2 A>C del ex 12 eye skel - cns moderate 2106 Slovak Janosik et al., 2001
330 9122 9122 T>C EX8 833 T>C I278T eye skel - cns moderate 2106 Slovak Janosik et al., 2001
331 9122 9122 T>C EX8 833 T>C I278T eye - vasc - mild CZ_H Czech Janosik et al., 2001
332 9122 9122 T>C EX8 833 T>C I278T eye - vasc - mild CZ_H Czech Janosik et al., 2001
333 5873 5873 G>C EX3 374 G>C R125P eye skel vasc - severe MASP Portugues CG>CC Castro et al., 1999
334 28 28delG EX1 28delG fs, stop at aa 81 eye skel vasc cns severe 2679 Czech Janosik et al., 2001
335 3576 3576 G>C IN1 IVS1-1G>C 210del26, fs stop at aa 9 eye skel vasc cns severe 2679 Czech Janosik et al., 2001
336 13217 13217 A>C IN11 IVS11-2 A>C del ex 12 eye skel - cns moderate 2873 Slovak Janosik et al., 2001
337 9122 9122 T>C EX8 833 T>C I278T eye skel - cns moderate 2873 Slovak Janosik et al., 2001
338 13260 13260 C>T EX12 1265 C>T P422L - - vasc - mild AK Danish CG>TG Maclean et al. 2002
339 13325 13325 G>A EX12 1330 G>A D444N - - vasc - mild AK Danish CG>CA Gaustadnes et al. 2000
340 8253 8253 C>G EX7 785 C>G T262R - - - - - Patient1 Arabic CG>GG Gat-Yablonski et al. 2000
341 18327 18327del5 EX17 1673del5 n.d. - - - - - Patient2 Arabic Gat-Yablonski et al. 2000
342 11664 11664 C>T EX10 1058 C>T T353M - - - cns - 1637_pat1 African American CG>TG Kruger et al. 2003
343 11664 11664 C>T EX10 1058 C>T T353M - - - cns - 1637_pat1 African American CG>TG Kruger et al. 2003
344 11664 11664 C>T EX10 1058 C>T T353M eye - vasc cns - 1637_pat2 African American CG>TG Kruger et al. 2003
345 6932 6932 G>A EX6 676 G>A A226T eye - vasc cns - 1637_pat2 African American CG>CA Kruger et al. 2003
346 11664 11664 C>T EX10 1058 C>T T353M - - vasc - - 1637_pat3 African American CG>TG Kruger et al. 2003
347 11664 11664 C>T EX10 1058 C>T T353M - - - - - 1637_pat4 African American CG>TG Kruger et al. 2003
348 18230 18230 C>A EX16 1576 C>A Q526K - - - - - 1637_pat4 African American Kruger et al. 2003
349 8204 8204 G>C IN6 IVS6-1 G>C n.d. eye - vasc cns - 1637_pat5 caucasian Kruger et al. 2003
350 9208 9208 G>A EX8 919 G>A G307S eye - vasc cns - 1637_pat5 caucasian CG>CA Kruger et al. 2003
351 6939 6939 A>G EX6 683 A>G N228S eye - vasc cns - 1637_pat6 caucasian Kruger et al. 2003
352 11732 11732 G>A EX10 1126 G>A D376N - - - - - 1637_pat7 caucasian CG>CA Kruger et al. 2003
353 6947 6947 G>C EX6 691 G>C A231L eye - - - - 1637_pat8 caucasian Kruger et al. 2003
354 9208 9208 G>A EX8 919 G>A G307S - - - - - 34K n.d. CG>CA Kraus, JP*
355 9208 9208 G>A EX8 919 G>A G307S - - - - - 3055 n.d. CG>CA Kraus, JP*
356 13325 13325 G>A EX12 1330 G>A D444N - - - - - 3127 n.d. CG>CA Kraus, JP*
357 9122 9122 T>C EX8 833 T>C I278T eye - - cns - 338 n.d. Kraus, JP*
358 9122 9122 T>C EX8 833 T>C I278T - - - - - 3161 n.d. Kraus, JP*
359 9122 9122 T>C EX8 833 T>C I278T eye - - cns - 340 n.d. Kraus, JP*
360 9208 9208 G>A EX8 919 G>A G307S eye - - cns - 340 n.d. CG>CA Kraus, JP*
361 9122 9122 T>C EX8 833 T>C I278T - - - - - 11935 n.d. Kraus, JP*
362 9208 9208 G>A EX8 919 G>A G307S - - - - - 339 n.d. CG>CA Kraus, JP*
363 9208 9208 G>A EX8 919 G>A G307S - - - - - 339 n.d. CG>CA Kraus, JP*
364 9122 9122 T>C EX8 833 T>C I278T eye skel - cns - 342 n.d. Kraus, JP*
365 9122 9122 T>C EX8 833 T>C I278T - - - - - 344 n.d. Kraus, JP*
366 9122 9122 T>C EX8 833 T>C I278T - - - - - 380 n.d. Kraus, JP*
367 9122 9122 T>C EX8 833 T>C I278T - - - - - 3133 n.d. Kraus, JP*
368 9208 9208 G>A EX8 919 G>A G307S - - - - - 375 n.d. CG>CA Kraus, JP*
369 8253 8253 C>T EX7 785 C>T T262M - - - - - 382 n.d. CG>TG Kraus, JP*
370 8253 8253 C>T EX7 785 C>T T262M - - - - - 382 n.d. CG>TG Kraus, JP*
371 9122 9122 T>C EX8 833 T>C I278T - - - - - 458 n.d. Kraus, JP*
372 9122 9122 T>C EX8 833 T>C I278T - - - - - 473 n.d. Kraus, JP*
373 9122 9122 T>C EX8 833 T>C I278T - - - - - 99-036 n.d. Kraus, JP*
374 9122 9122 T>C EX8 833 T>C I278T - - - - - 99-036 n.d. Kraus, JP*
375 5873 5873 G>A EX3 374 G>A R125Q - - - - - 578 n.d. CG>CA Kraus, JP*
376 5873 5873 G>A EX3 374 G>A R125Q - - - - - 578 n.d. CG>CA Kraus, JP*
377 5840 5840 C>T EX3 341 C>T A114V - - - - - 676 n.d. CG>TG Kraus, JP*
378 9122 9122 T>C EX8 833 T>C I278T - - - - - 729 n.d. Kraus, JP*
379 9122 9122 T>C EX8 833 T>C I278T - - - - - 729 n.d. Kraus, JP*
380 9208 9208 G>A EX8 919 G>A G307S - - - - - 912 n.d. CG>CA Kraus, JP*
381 9122 9122 T>C EX8 833 T>C I278T - - - - - 913 n.d. Kraus, JP*
382 9122 9122 T>C EX8 833 T>C I278T - - - - - 913 n.d. Kraus, JP*
383 9122 9122 T>C EX8 833 T>C I278T - - - - - 914 n.d. Kraus, JP*
384 9122 9122 T>C EX8 833 T>C I278T - - - - - 914 n.d. Kraus, JP*
385 8265 8265 G>A EX7 797 G>A R266K - - - - - 1014 n.d. Kraus, JP*
386 9208 9208 G>A EX8 919 G>A G307S - - - - - 1039 n.d. CG>CA Kraus, JP*
387 9122 9122 T>C EX8 833 T>C I278T - - - - - 1076 n.d. Kraus, JP*
388 9122 9122 T>C EX8 833 T>C I278T - - - - - 1099 n.d. Kraus, JP*
389 9122 9122 T>C EX8 833 T>C I278T - - - - - 12432 n.d. Kraus, JP*
390 9122 9122 T>C EX8 833 T>C I278T eye - - cns moderate 1 n.d. Kraus, JP*
391 9208 9208 G>A EX8 919 G>A G307S eye skel - cns - 3 n.d. CG>CA Kraus, JP*
392 5929 5929 G>A EX3 430 G>A E144K eye skel - cns - 3 n.d. CG>CA Kraus, JP*
393 9122 9122 T>C EX8 833 T>C I278T eye - - - - 4 n.d. Kraus, JP*
394 9122 9122 T>C EX8 833 T>C I278T eye - - - - 4 n.d. Kraus, JP*
395 5873 5873 G>A EX3 374 G>A R125Q - - - - - 5 n.d. CG>CA Kraus, JP*
396 5873 5873 G>A EX3 374 G>A R125Q eye skel vasc cns - 6 n.d. CG>CA Kraus, JP*
397 9122 9122 T>C EX8 833 T>C I278T eye skel - cns - 9 n.d. Kraus, JP*
398 9208 9208 G>A EX8 919 G>A G307S eye skel - cns - 9 n.d. CG>CA Kraus, JP*
399 9122 9122 T>C EX8 833 T>C I278T - - vasc - - 10 n.d. Kraus, JP*
400 9208 9208 G>A EX8 919 G>A G307S eye - - - - 11 n.d. CG>CA Kraus, JP*
401 9208 9208 G>A EX8 919 G>A G307S - - - - - 1318 n.d. CG>CA Kraus, JP*
402 9208 9208 G>A EX8 919 G>A G307S eye - - cns - A1 anglo-celtic CG>CA Gaustadnes et al., 2002
403 9208 9208 G>A EX8 919 G>A G307S eye - - cns - A1 anglo-celtic CG>CA Gaustadnes et al., 2002
404 9208 9208 G>A EX8 919 G>A G307S eye skel - cns - A2 anglo-celtic CG>CA Gaustadnes et al., 2002
405 9208 9208 G>A EX8 919 G>A G307S eye skel - cns - A2 anglo-celtic CG>CA Gaustadnes et al., 2002
406 9208 9208 G>A EX8 919 G>A G307S eye - - - - A3 anglo-celtic CG>CA Gaustadnes et al., 2002
407 9208 9208 G>A EX8 919 G>A G307S eye - - - - A3 anglo-celtic CG>CA Gaustadnes et al., 2002
408 9208 9208 G>A EX8 919 G>A G307S eye skel - cns - A4 anglo-celtic CG>CA Gaustadnes et al., 2002
409 9208 9208 G>A EX8 919 G>A G307S - - vasc - - A5 anglo-celtic CG>CA Gaustadnes et al., 2002
410 9208 9208 G>A EX8 919 G>A G307S eye skel - - - A6 anglo-celtic CG>CA Gaustadnes et al., 2002
411 6541 6541 G>A EX4 494 G>A C165Y eye skel - - - A6 anglo-celtic Gaustadnes et al., 2002
412 9208 9208 G>A EX8 919 G>A G307S - - - - - A7 anglo-celtic CG>CA Gaustadnes et al., 2002
413 9851 9851 C>T EX9 1006 C>T R336C - - - - - A7 anglo-celtic CG>TG; * Gaustadnes et al., 2002
414 9208 9208 G>A EX8 919 G>A G307S eye skel - cns - A8 anglo-celtic CG>CA Gaustadnes et al., 2002
415 6675 n.d. n.d. 533 del 18 del aa 179-184 eye skel - cns - A8 anglo-celtic Gaustadnes et al., 2002
416 9122 9122 T>C EX8 833 T>C I278T - skel - - - A9 anglo-celtic Gaustadnes et al., 2002
417 9122 9122 T>C EX8 833 T>C I278T - skel - - - A10 anglo-celtic Gaustadnes et al., 2002
418 9122 9122 T>C EX8 833 T>C I278T eye - - - - A11 anglo-celtic Gaustadnes et al., 2002
419 3669 3669 T>C EX2 302 T>C L101P eye - - - - A11 anglo-celtic Gaustadnes et al., 2002
420 9122 9122 T>C EX8 833 T>C I278T eye - - - - A13 anglo-celtic Gaustadnes et al., 2002
421 5824 5824 T>C EX3 325 T>C C109R eye - - - - A13 anglo-celtic Gaustadnes et al., 2002
422 9122 9122 T>C EX8 833 T>C I278T - skel - cns - A14 anglo-celtic Gaustadnes et al., 2002
423 9244 9244G>A IN8 IVS8+1G>A del ex 8 - skel - cns - A14 anglo-celtic Gaustadnes et al., 2002
424 9122 9122 T>C EX8 833 T>C I278T eye skel - - - A15 anglo-celtic Gaustadnes et al., 2002
425 210 210insC IN1 IVS1+1insC del ex 1 (?) eye skel - - - A15 anglo-celtic Gaustadnes et al., 2002
426 9122 9122 T>C EX8 833 T>C I278T - - - - - A17 anglo-celtic Gaustadnes et al., 2002
427 12959 12959delC EX11 1221delC W408fsX423 - - - - - A17 anglo-celtic Gaustadnes et al., 2002
428 9122 9122 T>C EX8 833 T>C I278T eye - - - - A18 anglo-celtic Gaustadnes et al., 2002
429 9884 9884 G>A EX9 1039 G>A G347S eye - - - - A18 anglo-celtic CG>CA Gaustadnes et al., 2002
430 9122 9122 T>C EX8 833 T>C I278T eye skel - cns - A19 anglo-celtic Gaustadnes et al., 2002
431 5873 5873 G>A EX3 374 G>A R125Q eye - - - - A21 Portuguese CG>CA Gaustadnes et al., 2002
432 5873 5873 G>A EX3 374 G>A R125Q eye - vasc cns - A22 Portuguese CG>CA Gaustadnes et al., 2002
433 5929 5929 G>A EX3 430 G>A E144K - - - - moderate A23 anglo-celtic CG>CA Gaustadnes et al., 2002
434 146 146 C>T EX1 146 C>T P49L - - - - moderate A23 anglo-celtic CG>TG Gaustadnes et al., 2002
435 5929 5929 G>A EX3 430 G>A E144K eye - - cns moderate A24 anglo-celtic CG>CA Gaustadnes et al., 2002
436 11717 11717 G>A EX10 1111 G>A V371M eye - - cns moderate A24 anglo-celtic CG>CA Gaustadnes et al., 2002
437 5929 5929 G>A EX3 430 G>A E144K eye skel - cns - A25 anglo-celtic CG>CA Gaustadnes et al., 2002
438 210 210 G>A IN1 IVS1+1G>A del ex1 or 153del57 eye skel - cns severe A25 anglo-celtic Gaustadnes et al., 2002
439 5929 5929 G>A EX3 430 G>A E144K eye skel - cns - A26 anglo-celtic CG>CA Gaustadnes et al., 2002
440 13311 13311 G>A EX12 1316 G>A R439Q eye skel - cns - A26 anglo-celtic CG>CA Gaustadnes et al., 2002
441 9193 9193 G>A EX8 904 G>A E302K eye skel - cns - A26 anglo-celtic CG>CA Gaustadnes et al., 2002
442 5941 5941insG EX3 442insG N149fsX187 - - - - - CWe Australian Gaustadnes et al., 2002
443 9181 9181insC EX8 892insC Q298fsX329 eye skel - cns mild RP Australian Gaustadnes et al., 2002
444 6940 6940 C>A EX6 684 C>A N228K eye skel - cns - A29 anglo-celtic Gaustadnes et al., 2002
445 11752 11752 G>A IN11 IVS11+1G>A del aa382-407 eye skel - cns - A29 anglo-celtic Gaustadnes et al., 2002
446 5824 5824 T>C EX3 325 T>C C109R eye - - cns - A31 anglo-celtic Gaustadnes et al., 2002
447 13942 13942 T>C EX13 1367 T>C L456P eye skel - cns severe SP1 spanish Urreizti et al., 2003
448 13942 13942 T>C EX13 1367 T>C L456P eye skel - cns severe SP1 spanish Urreizti et al., 2003
449 9851 9851 C>T EX9 1006 C>T R336C eye skel - cns severe SP2 spanish CG>TG; * Urreizti et al., 2003
450 9851 9851 C>T EX9 1006 C>T R336C eye skel - cns severe SP2 spanish CG>TG; * Urreizti et al., 2003
451 9851 9851 C>T EX9 1006 C>T R336C eye skel - cns moderate SP3 spanish CG>TG; * Urreizti et al., 2003
452 18220 18220delG EX16 1566delG fs, stop at aa 540 eye skel - cns moderate SP3 spanish Urreizti et al., 2003
453 18220 18220delG EX16 1566delG fs, stop at aa 540 eye skel vasc cns severe SP4 spanish Urreizti et al., 2003
454 11742 11742 G>A EX10 1136 G>A R379Q eye skel vasc cns severe SP4 spanish CG>CA Urreizti et al., 2003
455 11652 11652 G>A EX10 1046 G>A S349N eye skel vasc cns severe SP5 spanish Urreizti et al., 2003
456 11652 11652 G>A EX10 1046 G>A S349N eye skel vasc cns severe SP5 spanish Urreizti et al., 2003
457 11652 11652 G>A EX10 1046 G>A S349N eye - vasc - mild SP6 spanish Urreizti et al., 2003
458 210 210 G>A IN1 IVS1+1G>A del ex1 or 153del57 eye - vasc - mild SP6 spanish Urreizti et al., 2003
459 6714 6714 C>T EX5 572 C>T T191M eye - - - mild SP10 spanish CG>TG Urreizti et al., 2003
460 5872 5872 C>T EX3 373 C>T R125W eye - - - mild SP10 spanish CG>TG Urreizti et al., 2003
461 6714 6714 C>T EX5 572 C>T T191M eye skel vasc cns severe SP11 spanish CG>TG Urreizti et al., 2003
462 5872 5872 C>T EX3 373 C>T R125W eye skel vasc cns severe SP11 spanish CG>TG Urreizti et al., 2003
463 6714 6714 C>T EX5 572 C>T T191M eye skel - cns severe SP12 spanish CG>TG Urreizti et al., 2003
464 6714 6714 C>T EX5 572 C>T T191M eye skel - cns severe SP12 spanish CG>TG Urreizti et al., 2003
465 6714 6714 C>T EX5 572 C>T T191M eye skel vasc cns mild SP13 Portuguese CG>TG Urreizti et al., 2003
466 6714 6714 C>T EX5 572 C>T T191M eye - vasc cns mild SP13 Portuguese CG>TG Urreizti et al., 2003
467 6714 6714 C>T EX5 572 C>T T191M eye skel vasc - severe SP7 spanish CG>TG Urreizti et al., 2003
468 6714 6714 C>T EX5 572 C>T T191M eye skel - cns moderate SP8 spanish CG>TG Urreizti et al., 2003
469 6714 6714 C>T EX5 572 C>T T191M eye - - - mild SP9 spanish CG>TG Urreizti et al., 2003
470 8292 8292 G>A EX7 824 G>A C275Y eye - vasc - severe SP14 spanish Urreizti et al., 2003
471 9122 9122 T>C EX8 833 T>C I278T - - - - - MS03 german Linnebank, M.*
472 9122 9122 T>C EX8 833 T>C I278T - - - - - MS03 german Linnebank, M.*
473 9122 9122 T>C EX8 833 T>C I278T - - - - - MS04 n.d. Linnebank, M.*
474 9122 9122 T>C EX8 833 T>C I278T - - - - - MS04 n.d. Linnebank, M.*
475 9122 9122 T>C EX8 833 T>C I278T - - - - - MS05 german Linnebank, M.*
476 9122 9122 T>C EX8 833 T>C I278T - - - - - MS06 german Linnebank, M.*
477 11664 11664 C>T EX10 1058 C>T T353M - - - - - MS06 german CG>TG Linnebank, M.*
478 9122 9122 T>C EX8 833 T>C I278T - - - - - MS07 german Linnebank, M.*
479 194 194 A>G EX1 194 A>G H65R - - - - - MS07 german Linnebank, M.*
480 9122 9122 T>C EX8 833 T>C I278T - - - - - MS08 german Linnebank, M.*
481 9122 9122 T>C EX8 833 T>C I278T - - - - - MS09 german Linnebank, M.*
482 9122 9122 T>C EX8 833 T>C I278T eye skel - cns moderate MS10 german Linnebank, M.*
483 210 210 G>A IN1 IVS1+1G>A del ex1 or 153del57 eye skel - cns moderate MS10 german Linnebank, M.*
484 9122 9122 T>C EX8 833 T>C I278T eye - - - mild MS12 german Linnebank, M.*
485 8238 8238 C>T EX7 770 C>T T257M eye - - - mild MS12 german CG>TG Linnebank, M.*
486 9122 9122 T>C EX8 833 T>C I278T - - - - - MS13 german Linnebank, M.*
487 5872 5872 C>T EX3 373 C>T R125W - - - - - MS13 german CG>TG Linnebank, M.*
488 9122 9122 T>C EX8 833 T>C I278T - - - - - MS14 german Linnebank, M.*
489 8208 8208del25 EX7 740del25 del aa 247-255 - - - - - MS14 german Linnebank, M.*
490 9122 9122 T>C EX8 833 T>C I278T - - - - - MS15 german Linnebank, M.*
491 9122 9122 T>C EX8 833 T>C I278T eye skel - - mild MS16 german Linnebank, M.*
492 8238 8238 C>T EX7 770 C>T T257M eye skel - - mild MS16 german CG>TG Linnebank, M.*
493 9122 9122 T>C EX8 833 T>C I278T - - - - - MS17 croatian Linnebank, M.*
494 13217 13217 A>C IN11 IVS11-2 A>C del ex 12 - - - - - MS17 croatian Linnebank, M.*
495 5824 5824 T>C EX3 325 T>C C109R - - - cns - A32 anglo-celtic Gaustadnes et al., 2002
496 6675 n.d. n.d. 533 del 18 del aa 179-184 - - - cns - A32 anglo-celtic Gaustadnes et al., 2002
497 11711 11711 C>T EX10 1105 C>T R369C - - vasc cns - A33 anglo-celtic CG>TG; * Gaustadnes et al., 2002
498 19 19insC EX1 19insC fs, stop at aa 36 - - - cns - A34 lebanese Gaustadnes et al., 2002
499 19 19insC EX1 19insC fs, stop at aa 36 - - - cns - A34 lebanese Gaustadnes et al., 2002
500 13217 13217 A>C IN11 IVS11-2 A>C del ex 12 eye skel vasc cns severe SuAd Polish Orendac et al., 2004
501 5928 5928 C>G EX3 429 C>G I143M eye skel vasc cns severe SuAd Polish CG>GG Orendac et al., 2004
502 5928 5928 C>G EX3 429 C>G I143M eye skel vasc cns severe SuAr Polish CG>GG Orendac et al., 2004
503 13217 13217 A>C IN11 IVS11-2 A>C del ex 12 eye skel vasc cns severe SuAr Polish Orendac et al., 2004
504 6940 6940 C>A EX6 684 C>A N228K eye skel vasc cns severe WoWi Polish Orendac et al., 2004
505 6940 6940 C>A EX6 684 C>A N228K eye skel vasc cns severe WoWi Polish Orendac et al., 2004
506 9122 9122 T>C EX8 833 T>C I278T eye skel vasc cns severe MrMa Polish Orendac et al., 2004
507 13217 13217 A>C IN11 IVS11-2 A>C del ex 12 eye skel vasc cns severe MrMa Polish Orendac et al., 2004
508 5941 5941 G>A EX3 442 G>A G148R - - vasc cns severe SkKa Polish CG>CA Orendac et al., 2004
509 5941 5941 G>A EX3 442 G>A G148R - - vasc cns severe SkKa Polish CG>CA Orendac et al., 2004
510 9885 9885 G>T IN9 IVS9+1 G>T del ex 9, T318fsX330 - - - - - BiTe Polish Orendac et al., 2004
511 9885 9885 G>T IN9 IVS9+1 G>T del ex 9, T318fsX330 - - - - - BiTe Polish Orendac et al., 2004
512 9858 9858 T>C EX9 1013 T>C L338P eye skel vasc cns severe SP20 Spanish Urreizti et al., 2003
513 9858 9858 T>C EX9 1013 T>C L338P eye skel vasc cns severe SP20 Spanish Urreizti et al., 2003
514 6714 6714 C>T EX5 572 C>T T191M eye - vasc - severe SP14 spanish CG>TG Urreizti et al., 2003
515 6714 6714 C>T EX5 572 C>T T191M eye - - - mild SP9 spanish CG>TG Urreizti et al., 2003
516 6714 6714 C>T EX5 572 C>T T191M eye skel - cns moderate SP8 spanish CG>TG Urreizti et al., 2003
517 6714 6714 C>T EX5 572 C>T T191M eye skel vasc - severe SP7 spanish CG>TG Urreizti et al., 2003
518 6714 6714 C>T EX5 572 C>T T191M eye skel - cns severe SP21 Portuguese CG>TG Urreizti et al., 2003
519 6714 6714 C>T EX5 572 C>T T191M eye skel - cns severe SP21 Portuguese CG>TG Urreizti et al., 2003
520 6714 6714 C>T EX5 572 C>T T191M eye skel vasc cns severe SP22 spanish CG>TG Urreizti et al., 2003
521 6714 6714 C>T EX5 572 C>T T191M eye skel vasc cns severe SP22 spanish CG>TG Urreizti et al., 2003
522 6939 6939 A>G EX6 683 A>G N228S eye - vasc cns - 1637_pat6 caucasian Kruger et al., 2003
523 9122 9122 T>C EX8 833 T>C I278T - - - - - 1637_pat7 caucasian Kruger et al., 2003
524 9122 9122 T>C EX8 833 T>C I278T eye - - - - 1637_pat8 caucasian Kruger et al., 2003
525 9804 9804 T>C EX9 959 T>C V320A eye - - cns moderate 1637_pat9 caucasian Kruger et al., 2003
526 9804 9804 T>C EX9 959 T>C V320A eye - - cns moderate 1637_pat9 caucasian Kruger et al., 2003
527 9122 9122 T>C EX8 833 T>C I278T - - - - - 1637_pat10 caucasian Kruger et al., 2003
528 6947 6947 G>C EX6 691 G>C A231L - - - - - 1637_pat10 caucasian Kruger et al., 2003
529 3669 3669 T>C EX2 302 T>C L101P eye - vasc - - 1637_pat11 caucasian Kruger et al., 2003
530 9122 9122 T>C EX8 833 T>C I278T eye - vasc - - 1637_pat11 caucasian Kruger et al., 2003
531 9122 9122 T>C EX8 833 T>C I278T eye - vasc - - 1637_pat12 caucasian Kruger et al., 2003
532 9122 9122 T>C EX8 833 T>C I278T eye - vasc - - 1637_pat12 caucasian Kruger et al., 2003
533 9122 9122 T>C EX8 833 T>C I278T eye skel - cns moderate KHGS South Amerindian Vania DAlmeida et al., 2003
534 9122 9122 T>C EX8 833 T>C I278T - - - cns mild WTGS Brazilian Vania DAlmeida et al., 2003
535 9122 9122 T>C EX8 833 T>C I278T - skel - - asymptomatic RMS Portuguese Vania DAlmeida et al., 2003
536 9122 9122 T>C EX8 833 T>C I278T eye skel - - mild JFS Portuguese Vania DAlmeida et al., 2003
537 9122 9122 T>C EX8 833 T>C I278T eye skel - cns mild MJS Portuguese Vania DAlmeida et al., 2003
538 9122 9122 T>C EX8 833 T>C I278T eye - - cns moderate LMS Brazilian Vania DAlmeida et al., 2003
539 6983 6983 C>T EX6 727 C>T Q243X eye skel - cns - 5169 Venezuelan De Lucca et al., 2004
540 3620 3620 G>A EX2 253 G>A G85R eye skel - cns mild 930 Venezuelan CG>CA De Lucca et al., 2004
541 13325 13325 G>A EX12 1330 G>A D444N eye - - - 2255 Portuguese CG>CA De Lucca et al., 2004
542 13325 13325 G>A EX12 1330 G>A D444N eye - - - MB Portuguese CG>CA De Lucca et al., 2004
543 3620 3620 G>A EX2 253 G>A G85R eye skel - cns mild 1110 Venezuelan CG>CA De Lucca et al., 2004
544 6956 6956 G>A EX6 700 G>A D234N eye skel - - - 3800 Venezuelan CG>CA De Lucca et al., 2004
545 6956 6956 G>A EX6 700 G>A D234N eye skel - - - 3800 Venezuelan CG>CA De Lucca et al., 2004
546 6714 6714 C>T EX5 572 C>T T191M eye skel - cns - 2954 Venezuelan, Indigenous CG>TG De Lucca et al., 2004
547 6714 6714 C>T EX5 572 C>T T191M eye skel - cns - 2954 Venezuelan, Indigenous CG>TG De Lucca et al., 2004
548 3627 3627 C>A EX2 260 C>A T87N eye skel vasc cns moderate 5928 Venezuelan Marisel De Lucca *
549 3620 3620 G>A EX2 253 G>A G85R eye skel vasc cns moderate 5928 Venezuelan CG>CA Marisel De Lucca *
550 6714 6714 C>T EX5 572 C>T T191M - - - - - R-V-001 French CG>TG Redonnet-Vernhet et al., 2005
551 6714 6714 C>T EX5 572 C>T T191M - - - - - R-V-002 French CG>TG Redonnet-Vernhet et al., 2005
552 6714 6714 C>T EX5 572 C>T T191M - - - - - R-V-003 French CG>TG Redonnet-Vernhet et al., 2005
553 6714 6714 C>T EX5 572 C>T T191M - - - - - R-V-004 French CG>TG Redonnet-Vernhet et al., 2005
554 6714 6714 C>T EX5 572 C>T T191M - - - - - R-V-005 French CG>TG Redonnet-Vernhet et al., 2005
555 6714 6714 C>T EX5 572 C>T T191M - - - - - R-V-006 French CG>TG Redonnet-Vernhet et al., 2005
556 6714 6714 C>T EX5 572 C>T T191M - - - - - R-V-007 French CG>TG Redonnet-Vernhet et al., 2005
557 9122 9122 T>C EX8 833 T>C I278T - - - - - R-V-008 French Redonnet-Vernhet et al., 2005
558 6504 6504 G>A EX4 457 G>A G153R - - - - - R-V-009 French Redonnet-Vernhet et al., 2005
559 6504 6504 G>A EX4 457 G>A G153R - - - - - R-V-010 French Redonnet-Vernhet et al., 2005
560 6585 6585 EX4 488 Y163R - - - - - R-V-011 French Redonnet-Vernhet et al., 2005
561 8292 8292 G>A EX7 824 G>A C275Y - - - - - R-V-012 French Redonnet-Vernhet et al., 2005
562 5950 5950 G>A EX3 451 G>A G151R - - - - - R-V-012 French CG>CA Redonnet-Vernhet et al., 2005
563 5845 5845 G>A EX3 346 G>A G116R - - - - - R-V-013 French CG>CA Redonnet-Vernhet et al., 2005
564 8253 8253 C>T EX7 785 C>T T262M - - - - - R-V-014 French CG>TG Redonnet-Vernhet et al., 2005
565 9193 9193 G>A EX8 904 G>A E302K - - - - - R-V-015 French CG>CA Redonnet-Vernhet et al., 2005
566 9193 9193 G>A EX8 904 G>A E302K - - - - - R-V-016 French CG>CA Redonnet-Vernhet et al., 2005
567 6579 6579 G>A IVS4 IVS4+1 G>A n.d. eye - vasc - mild Dan01 Danish Skovby*
568 13325 13325 G>A EX12 1330 G>A D444N eye - vasc - mild Dan01 Danish CG>CA Skovby*
569 6714 6714 C>T EX5 572 C>T T191M - - - - - Col_001 Colombian CG>TG Urreizti et al., 2006
570 6714 6714 C>T EX5 572 C>T T191M - - - - - Col_002 Colombian CG>TG Urreizti et al., 2006
571 6714 6714 C>T EX5 572 C>T T191M - - - - - Col_003 Colombian CG>TG Urreizti et al., 2006
572 6714 6714 C>T EX5 572 C>T T191M - - - - - Col_004 Colombian CG>TG Urreizti et al., 2006
573 6714 6714 C>T EX5 572 C>T T191M - - - - - Col_005 Colombian CG>TG Urreizti et al., 2006
574 6714 6714 C>T EX5 572 C>T T191M - - - - - Col_006 Colombian CG>TG Urreizti et al., 2006
575 6714 6714 C>T EX5 572 C>T T191M - - - - - Col_007 Colombian CG>TG Urreizti et al., 2006
576 6714 6714 C>T EX5 572 C>T T191M - - - - - Col_008 Colombian CG>TG Urreizti et al., 2006
577 6714 6714 C>T EX5 572 C>T T191M - - - - - Col_009 Colombian CG>TG Urreizti et al., 2006
578 6714 6714 C>T EX5 572 C>T T191M - - - - - Col_010 Colombian CG>TG Urreizti et al., 2006
579 6714 6714 C>T EX5 572 C>T T191M - - - - - Col_011 Colombian CG>TG Urreizti et al., 2006
580 6714 6714 C>T EX5 572 C>T T191M - - - - - Col_012 Colombian CG>TG Urreizti et al., 2006
581 9151 9151 G>A EX8 862 G>A A288T eye skel - cns severe Ber_001 Colombian CG>CA Bermudez et al., 2006
582 5861 5861 G>A EX3 362 G>A R121H eye skel - cns severe Ber_001 Colombian CG>CA; * Bermudez et al., 2006
583 6714 6714 C>T EX5 572 C>T T191M eye skel vasc cns severe Ber_002 Colombian CG>TG Bermudez et al., 2006
584 6714 6714 C>T EX5 572 C>T T191M eye skel vasc cns severe Ber_002 Colombian CG>TG Bermudez et al., 2006
585 6714 6714 C>T EX5 572 C>T T191M eye skel vasc cns severe Ber_003 Colombian CG>TG Bermudez et al., 2006
586 6714 6714 C>T EX5 572 C>T T191M eye skel vasc cns severe Ber_003 Colombian CG>TG Bermudez et al., 2006
587 6714 6714 C>T EX5 572 C>T T191M eye skel vasc cns severe Ber_004 Colombian CG>TG Bermudez et al., 2006
588 6714 6714 C>T EX5 572 C>T T191M eye skel vasc cns severe Ber_004 Colombian CG>TG Bermudez et al., 2006
589 6714 6714 C>T EX5 572 C>T T191M eye skel - cns moderate Ber_005 Colombian CG>TG Bermudez et al., 2006
590 6714 6714 C>T EX5 572 C>T T191M eye skel - cns moderate Ber_005 Colombian CG>TG Bermudez et al., 2006
591 6714 6714 C>T EX5 572 C>T T191M eye skel - cns moderate Ber_006 Colombian CG>TG Bermudez et al., 2006
592 6714 6714 C>T EX5 572 C>T T191M eye skel - cns moderate Ber_006 Colombian CG>TG Bermudez et al., 2006
593 6714 6714 C>T EX5 572 C>T T191M eye skel - cns moderate Ber_007 Colombian CG>TG Bermudez et al., 2006
594 6714 6714 C>T EX5 572 C>T T191M eye skel - cns moderate Ber_007 Colombian CG>TG Bermudez et al., 2006
595 6714 6714 C>T EX5 572 C>T T191M eye skel - cns moderate Ber_008 Colombian CG>TG Bermudez et al., 2006
596 6714 6714 C>T EX5 572 C>T T191M eye skel - cns moderate Ber_008 Colombian CG>TG Bermudez et al., 2006
597 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_001 Spanish CG>TG Urreizti et al., 2006
598 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_001 Spanish CG>TG Urreizti et al., 2006
599 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_002 Spanish CG>TG Urreizti et al. 2006
600 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_002 Spanish CG>TG Urreizti et al. 2006
601 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_003 Spanish CG>TG Urreizti et al. 2006
602 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_003 Spanish CG>TG Urreizti et al. 2006
603 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_004 Spanish CG>TG Urreizti et al. 2006
604 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_004 Spanish CG>TG Urreizti et al. 2006
605 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_005 Spanish CG>TG Urreizti et al. 2006
606 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_005 Spanish CG>TG Urreizti et al. 2006
607 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_006 Spanish CG>TG Urreizti et al. 2006
608 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_006 Spanish CG>TG Urreizti et al. 2006
609 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_007 Spanish CG>TG Urreizti et al. 2006
610 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_007 Spanish CG>TG Urreizti et al. 2006
611 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_008 Spanish CG>TG Urreizti et al. 2006
612 13325 13325 G>A EX12 1330 G>A D444N - - - - - Urr_008 Spanish CG>CA Urreizti et al. 2006
613 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_009 Portuguese CG>TG Urreizti et al. 2006
614 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_009 Portuguese CG>TG Urreizti et al. 2006
615 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_010 Argentinian CG>TG Urreizti et al. 2006
616 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_010 Argentinian CG>TG Urreizti et al. 2006
617 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_011 Brazilian CG>TG Urreizti et al. 2006
618 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_011 Brazilian CG>TG Urreizti et al. 2006
619 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_012 Brazilian CG>TG Urreizti et al. 2006
620 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_012 Brazilian CG>TG Urreizti et al. 2006
621 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_013 Brazilian CG>TG Urreizti et al. 2006
622 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_013 Brazilian CG>TG Urreizti et al. 2006
623 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_014 Brazilian CG>TG Urreizti et al. 2006
624 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_014 Brazilian CG>TG Urreizti et al. 2006
625 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_015 Brazilian CG>TG Urreizti et al. 2006
626 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_015 Brazilian CG>TG Urreizti et al. 2006
627 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_016 Brazilian CG>TG Urreizti et al. 2006
628 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_016 Brazilian CG>TG Urreizti et al. 2006
629 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_017 Brazilian CG>TG Urreizti et al. 2006
630 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_017 Brazilian CG>TG Urreizti et al. 2006
631 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_018 Brazilian CG>TG Urreizti et al. 2006
632 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_018 Brazilian CG>TG Urreizti et al. 2006
633 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_019 Brazilian CG>TG Urreizti et al. 2006
634 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_019 Brazilian CG>TG Urreizti et al. 2006
635 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_020 Brazilian CG>TG Urreizti et al. 2006
636 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_020 Brazilian CG>TG Urreizti et al. 2006
637 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_021 Brazilian CG>TG Urreizti et al. 2006
638 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_022 Brazilian CG>TG Urreizti et al. 2006
639 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_023 Brazilian CG>TG Urreizti et al. 2006
640 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_023 Brazilian CG>TG Urreizti et al. 2006
641 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_024 Brazilian CG>TG Urreizti et al. 2006
642 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_024 Brazilian CG>TG Urreizti et al. 2006
643 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_025 Brazilian CG>TG Urreizti et al. 2006
644 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_025 Brazilian CG>TG Urreizti et al. 2006
645 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_026 Brazilian CG>TG Urreizti et al. 2006
646 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_026 Brazilian CG>TG Urreizti et al. 2006
647 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_027 Brazilian CG>TG Urreizti et al. 2006
648 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_027 Brazilian CG>TG Urreizti et al. 2006
649 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_028 Brazilian CG>TG Urreizti et al. 2006
650 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_028 Brazilian CG>TG Urreizti et al. 2006
651 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_029 Brazilian CG>TG Urreizti et al. 2006
652 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_029 Brazilian CG>TG Urreizti et al. 2006
653 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_030 Brazilian CG>TG Urreizti et al. 2006
654 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_030 Brazilian CG>TG Urreizti et al. 2006
655 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_031 Brazilian CG>TG Urreizti et al. 2006
656 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_031 Brazilian CG>TG Urreizti et al. 2006
657 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_032 Brazilian CG>TG Urreizti et al. 2006
658 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_032 Brazilian CG>TG Urreizti et al. 2006
659 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_033 Brazilian CG>TG Urreizti et al. 2006
660 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_033 Brazilian CG>TG Urreizti et al. 2006
661 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_034 Brazilian CG>TG Urreizti et al. 2006
662 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_034 Brazilian CG>TG Urreizti et al. 2006
663 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_035 Brazilian CG>TG Urreizti et al. 2006
664 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_035 Brazilian CG>TG Urreizti et al. 2006
665 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_036 Brazilian CG>TG Urreizti et al. 2006
666 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_036 Brazilian CG>TG Urreizti et al. 2006
667 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_037 Brazilian CG>TG Urreizti et al. 2006
668 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_037 Brazilian CG>TG Urreizti et al. 2006
669 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_038 Brazilian CG>TG Urreizti et al. 2006
670 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_038 Brazilian CG>TG Urreizti et al. 2006
671 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_039 Brazilian CG>TG Urreizti et al. 2006
672 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_039 Brazilian CG>TG Urreizti et al. 2006
673 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_040 Brazilian CG>TG Urreizti et al. 2006
674 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_040 Brazilian CG>TG Urreizti et al. 2006
675 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_041 Brazilian CG>TG Urreizti et al. 2006
676 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_041 Brazilian CG>TG Urreizti et al. 2006
677 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_042 Brazilian CG>TG Urreizti et al. 2006
678 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_042 Brazilian CG>TG Urreizti et al. 2006
679 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_043 Brazilian CG>TG Urreizti et al. 2006
680 6714 6714 C>T EX5 572 C>T T191M - - - - - Urr_043 Brazilian CG>TG Urreizti et al. 2006
681 9852 9852 G>A EX9 1007 G>A R336H eye skel - - - 1 Italian CG>CA; * Evangelisti et al. 2008
682 6516 6516 G>C EX4 469 G>C A157P eye skel vasc - - 2 Italian Evangelisti et al. 2008
683 9208 9208 G>A EX8 919 G>A G307S eye skel vasc - - 2 Italian CG>CA Evangelisti et al. 2008
684 9122 9122 T>C EX8 833 T>C I278T - skel vasc - - 3 Argentinian Evangelisti et al. 2008
685 13281 13281_13283del EX12 1286_1288delTCA I429del,fs - skel vasc - - 3 Argentinian Evangelisti et al. 2008
686 146 146 C>T EX1 146 C>T P49L eye skel vasc - - 4 Italian CG>TG Evangelisti et al. 2008
687 13554 13554 G>A IN12 IVS 12+1 G>A del ex 12 eye skel vasc - - 4 Italian Evangelisti et al. 2008
688 5873 5873 G>A EX3 374 G>A R125Q eye skel vasc - - 5 Italian CG>CA Evangelisti et al. 2008
689 9122 9122 T>C EX8 833 T>C I278T eye skel vasc - - 3 Italian Evangelisti et al. 2008
690 9122 9122 T>C EX8 833 T>C I278T - - vasc - mild 1 Danish Skovby F*
691 11758 11758 C>T IN10 IVS10+7 C>T n.d. - - vasc - mild 1 Danish Skovby F*
692 6579 6579 G>A IVS4 IVS4+1 G>A n.d. eye - vasc - mild 2 Danish Skovby F*
693 13325 13325 G>A EX12 1330 G>A D444N eye - vasc - mild 2 Danish CG>CA Skovby F*
694 9122 9122 T>C EX8 833 T>C I278T - - vasc - mild 1 French Lefaucheur R et al. 2008
695 13325 13325 G>A EX12 1330 G>A D444N - - vasc - mild 1 French CG>CA Lefaucheur R et al. 2008
696 6950 6950 C>G EX6 694 C>G H232D - - - cns - 1 Japanese Yokoi et al. 2008
697 8243 8243 G>A EX7 775 G>A G259D - - - cns - 1 Japanese CG>CA Yokoi et al. 2008
698 13316 13316 A>T EX12 1321 A>T K441X - skel - cns - 1b Japanese Katsushima et al. 2006
699 13316 13316 A>T EX12 1321 A>T K441X - skel - cns - 1b Japanese Katsushima et al. 2006
700 6950 6950 C>G EX6 694 C>G H232D eye - - cns - 2 Japanese Katsushima et al. 2006
701 9122 9122 T>C EX8 833 T>C I278T eye - - cns - 2 Japanese Katsushima et al. 2006
702 5840 5840 C>T EX3 341 C>T A114V - - - - - 3 Japanese CG>TG Katsushima et al. 2006
703 5950 5950 G>A EX3 451 G>A G151R nbs nbs nbs nbs - 3 Japanese CG>CA Katsushima et al. 2006
704 13316 13316 A>T EX12 1321 A>T K441X nbs nbs nbs nbs nbs 5 Japanese Katsushima et al. 2006
705 18245 18245del4 EX16 1591del4 1591delTTCG, fs nbs nbs nbs nbs nbs 5 Japanese Katsushima et al. 2006
706 103 103 G>A EX1 103G>A; 129G>A D35N; W43X nbs nbs nbs nbs nbs 6 Japanese Katsushima et al. 2006
707 6950 6950 C>G EX6 694 C>G H232D nbs nbs nbs nbs nbs 6 Japanese Katsushima et al. 2006
708 5861 5861 G>A EX3 362 G>A R121H nbs nbs nbs nbs nbs 7 Japanese CG>CA; * Katsushima et al. 2006
709 6504 6504 G>A EX4 457 G>A G153R - - - - - L01 German Linnebank, M.*
710 5873 5873 G>A EX3 374 G>A R125Q - - - - - L02 German CG>CA Linnebank, M.*
711 5950 5950 G>A EX3 451 G>A G151R eye skel - cns moderate L03 Turkish CG>CA Linnebank, M.*
712 9804 9804 T>C EX9 959 T>C V320A eye skel vasc - mild AP(718) German Linnebank, M.*
713 5872 5872 C>T EX3 373 C>T R125W eye skel - - mild AS(608) German CG>TG Linnebank, M.*
714 5680 5680 C>A EX3 361 C>A R121S - - - - - L04 Turkish/Dutch Linnebank, M.*
715 11664 11664 C>T EX10 1058 C>T T353M - - - - - L04 Turkish/Dutch CG>TG Linnebank, M.*
716 5942 5942 G>A EX3 443 G>A G148E - - - - - L05 German Linnebank, M.*
717 11666 11666 G>A EX10 1060 G>A V354M - - - - - L06 German Linnebank, M.*
718 194 194 A>C EX1 194 A>C H65R - - - - - L07 n.d. Linnebank, M.*
719 6549 6549 G>A EX4 502 G>A V168M - - - - - L07 n.d. CG>CA Linnebank, M.*
720 3671 3671 A>C 6643 del29 EX2; IVS4 304 A>C; IVS4-29del129 K102Q; del EX5 - - - - - L08 Israeli Linnebank, M.*
721 3671 3671 A>C 6643 del29 EX2; IVS4 304 A>C; IVS4-29del129 K102Q; del EX5 - - - - - L08 Israeli Linnebank, M.*
722 13217 13217 A>C IN11 IVS11-2 A>C del ex 12 - - - - - L09 n.d. Linnebank, M.*
723 13217 13217 A>C IN11 IVS11-2 A>C del ex 12 - - - - - L09 n.d. Linnebank, M.*
724 5861 5861 G>A EX3 362 G>A R121H - - - - - L10 German CG>CA; * Linnebank, M.*
725 9858 9858 T>C EX9 1013 T>C L338P - - - - - L11 n.d. Linnebank, M.*
726 9122 9122 T>C EX8 833 T>C I278T - - - - - L12 German Linnebank, M.*
727 11688 11688 T>C EX10 1082 T>C A361V - - - - - L12 German Linnebank, M.*
728 13217 13217 A>C IN11 IVS11-2 A>C del ex 12 - - - - - L13 Polish Linnebank, M.*
729 13217 13217 A>C IN11 IVS11-2 A>C del ex 12 - - - - - L14 Polish Linnebank, M.*
730 6932 6932 G>A EX6 676 G>A A226T - - - - - L14 Polish CG>CA Linnebank, M.*
731 13217 13217 A>C IN11 IVS11-2 A>C del ex 12 - - - - - L15 Polish Linnebank, M.*
732 13217 13217 A>C IN11 IVS11-2 A>C del ex 12 - - - - - L16 Polish Linnebank, M.*
733 9151 9151 G>A EX8 862 G>A A288T - - - - - L16 Polish CG>CA Linnebank, M.*
734 9852 9852 G>A EX9 1007 G>A R336H - - - - - L17 n.d. CG>CA; * Linnebank, M.*
735 9852 9852 G>A EX9 1007 G>A R336H - - - - - L17 n.d. CG>CA; * Linnebank, M.*
736 9151 9151 G>A EX8 862 G>A A288T - - - - - L18 Turkish CG>CA Linnebank, M.*
737 9151 9151 G>A EX8 862 G>A A288T - - - - - L18 Turkish CG>CA Linnebank, M.*
738 8238 8238 C>T EX7 770 C>T T257M - - - - - L19 n.d. CG>TG Linnebank, M.*
739 9122 9122 T>C EX8 833 T>C I278T - - - - - L19 n.d. Linnebank, M.*
740 9193 9193 G>A EX8 904 G>A E302K - - - - - L20 n.d. CG>CA Linnebank, M.*
741 253 G253del EX2 G253 del fs - - - - - 566AP Brazilian Linnebank, M.*
742 5861 5861 G>A EX3 362 G>A R121H nbs nbs nbs nbs nbs K7 Japanese CG>CA; * Katsushima et al. 2006
743 9884 9884 G>A EX9 1039 G>A G347S - skel - cns - K8 Japanese CG>CA Katsushima et al. 2006
744 9884 9884 G>A EX9 1039 G>A G347S - skel - cns - K8 Japanese CG>CA Katsushima et al. 2006
745 6792 6792 C>T EX6 650 C>T S217F - - - - - K9 Japanese Katsushima et al. 2006
746 9122 9122 T>C EX8 833 T>C I278T - - - - - K9 Japanese Katsushima et al. 2006
747 5861 5861 G>A EX3 362 G>A R121H nbs nbs nbs nbs nbs K10 Japanese CG>CA; * Katsushima et al. 2006
748 5861 5861 G>A EX3 362 G>A R121H nbs nbs nbs nbs nbs K10 Japanese CG>CA; * Katsushima et al. 2006
749 5860 5860 C>T EX3 361 C>T R121C eye vasc cns - K11 Japanese CG>TG; * Katsushima et al. 2006
750 5860 5860 C>T EX3 361 C>T R121C eye vasc cns - K11 Japanese CG>TG; * Katsushima et al. 2006
751 8264 8264 A>G EX7 796A>G R266G nbs nbs nbs nbs - K12 Japanese Katsushima et al. 2006
752 13316 13316 A>T EX12 1321 A>T K441X nbs nbs nbs nbs - K12 Japanese Katsushima et al. 2006
753 11664 11664 C>T EX10 1058 C>T T353M - - - - severe 74 Spanish CG>TG Cozar M et al. 2011
754 13325 13325 G>A EX12 1330 G>A D444N - - - - severe 74 Spanish CG>CA Cozar M et al. 2011
755 6741 6741 C>T EX5 599 C>T P200L - - - - asymptomatic 79 Spanish Cozar M et al. 2011
756 5873 5873 G>A EX3 374 G>A R125Q - - - - mild 80a Spanish CG>CA Cozar M et al. 2011
757 146 146 C>T EX1 146 C>T P49L - - - - mild 80a Spanish CG>TG Cozar M et al. 2011
758 5843 5873 G>A EX3 374 G>A R125Q - - - - asymptomatic 80b Spanish CG>CA Cozar M et al. 2011
759 146 146 C>T EX1 146 C>T P49L - - - - asymptomatic 80b Spanish CG>TG Cozar M et al. 2011
760 6714 6714 C>T EX5 572 C>T T191M - - - - mild 82a Spanish CG>TG Cozar M et al. 2011
761 9130 9130 C>T EX8 841 C>T D281N - - - - mild 82a Spanish Cozar M et al. 2011
762 6714 6714 C>T EX5 572 C>T T191M - - - - mild 82b Spanish CG>TG Cozar M et al. 2011
763 9130 9130 C>T EX8 841 C>T D281N - - - - mild 82b Spanish Cozar M et al. 2011
764 6714 6714 C>T EX5 572 C>T T191M - - - - mild 82c Spanish CG>TG Cozar M et al. 2011
765 9130 9130 C>T EX8 841 C>T D281N - - - - mild 82c Spanish Cozar M et al. 2011
766 11664 11664 C>T EX10 1058 C>T T353M - - - - mild 83 Spanish CG>TG Cozar M et al. 2011
767 13325 13325 G>A EX12 1330 G>A D444N - - - - mild 83 Spanish CG>CA Cozar M et al. 2011
768 9122 9122 T>C EX8 833 T>C I278T - - - - mild 84 Spanish Cozar M et al. 2011
769 5860 5860 C>T EX3 361 C>T R121C - - - - mild 84 Spanish CG>TG; * Cozar M et al. 2011
770 13325 13325 G>A EX12 1330 G>A D444N - - - - mild 88 Spanish CG>CA Cozar M et al. 2011
771 13325 13325 G>A EX12 1330 G>A D444N - - - - mild 88 Spanish CG>CA Cozar M et al. 2011
772 6714 6714 C>T EX5 572 C>T T191M - - - - mild 92 Spanish CG>TG Cozar M et al. 2011
773 6714 6714 C>T EX5 572 C>T T191M - - - - mild 92 Spanish CG>TG Cozar M et al. 2011
774 6714 6714 C>T EX5 572 C>T T191M - - - - severe 93 Spanish CG>TG Cozar M et al. 2011
775 6714 6714 C>T EX5 572 C>T T191M - - - - severe 93 Spanish CG>TG Cozar M et al. 2011
776 6714 6714 C>T EX5 572 C>T T191M - - - - severe 94 Spanish CG>TG Cozar M et al. 2011
777 9122 9122 T>C EX8 833 T>G I278S - - - - severe 94 Spanish Cozar M et al. 2011
778 6714 6714 C>T EX5 572 C>T T191M - - - - mild 100 Spanish CG>TG Cozar M et al. 2011
779 11742 11742 G>A EX10 1136 G>A R379Q - - - - mild 100 Spanish CG>CA Cozar M et al. 2011
780 18220 18220delG EX16 1566delG fs, stop at aa 540 - - - - - 107 Spanish Cozar M et al. 2011
781 18220 18220delG EX16 1566delG fs, stop at aa 540 - - - - - 107 Spanish Cozar M et al. 2011
782 9122 9122 T>C EX8 833 T>C I278T - - - - mild 108 Spanish Cozar M et al. 2011
783 8292 8292 G>A EX7 824 G>A C275Y - - - - mild 108 Spanish Cozar M et al. 2011
784 18220 18220delG EX16 1566delG fs, stop at aa 540 - - - - severe 81 Portugese Cozar M et al. 2011
785 18220 18220delG EX16 1566delG fs, stop at aa 540 - - - - severe 81 Portugese Cozar M et al. 2011
786 18220 18220delG EX16 1566delG fs, stop at aa 540 - - - - asymptomatic 87 Portugese Cozar M et al. 2011
787 6636 6636_7431del796 IVS4-6 IVS4-38del796 V178GfsX23 - - - - asymptomatic 87 Portugese Cozar M et al. 2011
788 9151 9151_9155del5 EX8 862_866del5 E289GfsX39 - - - - severe 109 Portugese Cozar M et al. 2011
789 9151 9151_9155del5 EX8 862_866del5 E289GfsX39 - - - - severe 109 Portugese Cozar M et al. 2011
790 3620 3620 G>A EX2 253 G>A G85R - - - - severe 68a Argentinian CG>CA Cozar M et al. 2011
791 6909 6909_6916del8 IVS5 IVS5-14_-7del8 Y223GfsX23 - - - - severe 68a Argentinian Cozar M et al. 2011
792 3620 3620 G>A EX2 253 G>A G85R - - - - severe 68b Argentinian CG>CA Cozar M et al. 2011
793 6909 6909_6916del8 IVS5 IVS5-14_-7del8 Y223GfsX23 - - - - severe 68b Argentinian Cozar M et al. 2011
794 6945 6945delT EX6 689delT L230RfsX39 - - - - severe 89 Argentinian Cozar M et al. 2011
795 6945 6945delT EX6 689delT L230RfsX39 - - - - severe 89 Argentinian Cozar M et al. 2011
796 9807 9807 A>T EX9 962 A>T D321V - - - - mild 90 Argentinian Cozar M et al. 2011
797 13331 13331 G>T EX12 1336 G>T A446S - - - - mild 90 Argentinian Cozar M et al. 2011
798 6932 6932 G>A EX6 676 G>A A226T - - - - severe 91 Argentinian CG>CA Cozar M et al. 2011
799 6932 6932 G>A EX6 676 G>A A226T - - - - severe 91 Argentinian CG>CA Cozar M et al. 2011
800 9122 9122 T>C EX8 833 T>C I278T - - - - - 105 Norwegian Cozar M et al. 2011
801 9122 9122 T>C EX8 833 T>C I278T - - - - - 105 Norwegian Cozar M et al. 2011
802 6565 6565_6567delTGA EX4 518delTGA M173del - - - - mild 55 Indian Cozar M et al. 2011
803 6565 6565_6567delTGA EX4 518delTGA M173del - - - - mild 55 Indian Cozar M et al. 2011

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