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Gene Protein AA change dbSNP Phenotype Chain Detail
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1 GLA P06280 p.Leu3Pro rs150547672 variant of unknown significance
Detail
0.13 (T)
0.981 (D)
N
2 GLA P06280 p.Ala20Pro rs104894847 Fabry disease (FD) [MIM:301500]
Detail
0.34 (T)
0.139 (N)
N
3 GLA P06280 p.Ala29Thr rs142449183 variant of unknown significance
Detail
0.47 (T)
0.566 (D)
N
4 GLA P06280 p.Ala31Val - Fabry disease (FD) [MIM:301500]
Detail
0.32 (T)
0.604 (D)
N
5 GLA P06280 p.Leu32Pro - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.18 (T)
1 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Asn34Ser rs104894835 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.21 (T)
0.997 (D)
N
5 GLA P06280 p.Gly35Arg - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.20 (T)
1 (D)
N
6 GLA P06280 p.Pro40Leu - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GLA P06280 p.Pro40Ser rs104894831 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GLA P06280 p.Met42Leu - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.19 (T)
0.97 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Met42Val - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.01 (D)
0.994 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Gly43Arg - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.His46Tyr - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.01 (D)
0.995 (D)
D ( Predicted by rules : 1 2 3 )
5 GLA P06280 p.His46Pro - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.05 (D)
0.044 (N)
D ( Predicted by rules : 1 2 3 4 5 6 )
8 GLA P06280 p.His46Arg - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.01 (D)
0.997 (D)
D ( Predicted by rules : 1 2 3 4 5 6 )
8 GLA P06280 p.Trp47Gly - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Arg49Pro - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.23 (T)
1 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Arg49Leu - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.68 (T)
1 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Arg49Ser - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.46 (T)
1 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Cys52Ser - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.10 (T)
0.998 (D)
D ( Predicted by rules : 1 2 3 )
5 GLA P06280 p.Cys52Arg - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.07 (T)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GLA P06280 p.Cys56Gly rs104894836 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.42 (T)
0.998 (D)
D ( Predicted by rules : 1 2 3 4 5 6 )
8 GLA P06280 p.Cys56Phe - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.05 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Cys56Tyr - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Glu59Lys - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.33 (T)
0.499 (N)
N
5 GLA P06280 p.Ser65Thr rs104894848 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.47 (T)
0.984 (D)
N
6 GLA P06280 p.Glu66Gln rs104894833 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.29 (T)
1 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Met72Val - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.34 (T)
0.002 (N)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Gly85Asp - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GLA P06280 p.Tyr86Cys - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 )
6 GLA P06280 p.Leu89Arg - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.00 (D)
0.991 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Leu89Pro - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.00 (D)
0.99 (D)
D ( Predicted by rules : 1 2 3 4 )
6 GLA P06280 p.Ile91Thr - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.00 (D)
0.999 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Asp92His - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 6 )
8 GLA P06280 p.Asp92Tyr - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 6 )
8 GLA P06280 p.Asp93Asn - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.04 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GLA P06280 p.Asp93Gly - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.09 (T)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 )
7 GLA P06280 p.Cys94Ser - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.38 (T)
0.999 (D)
D ( Predicted by rules : 1 2 3 4 )
6 GLA P06280 p.Cys94Tyr rs113173389 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.21 (T)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GLA P06280 p.Trp95Ser - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 )
6 GLA P06280 p.Ala97Val - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.15 (T)
0.995 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Arg100Thr - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.13 (T)
1 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Arg100Lys - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.05 (D)
0.976 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Arg112Cys rs104894834 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 6 )
8 GLA P06280 p.Arg112Ser - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.01 (D)
0.996 (D)
D ( Predicted by rules : 1 2 3 4 5 6 7 )
9 GLA P06280 p.Arg112His - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.03 (D)
0.999 (D)
D ( Predicted by rules : 1 2 3 )
5 GLA P06280 p.Phe113Leu - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.00 (D)
0.999 (D)
D ( Predicted by rules : 1 2 3 4 )
6 GLA P06280 p.Phe113Ser - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 6 )
8 GLA P06280 p.Ile117Ser rs12392549 variant of unknown significance
3lxb
B
Detail
0.00 (D)
0.979 (D)
N
9 GLA P06280 p.Arg118Cys rs148158093 variant of unknown significance
3lxb
B
Detail
0.02 (D)
0.992 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Arg118His rs143768851 variant of unknown significance
3lxb
B
Detail
0.05 (D)
0.007 (N)
N
5 GLA P06280 p.Leu120Val - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.16 (T)
0.992 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Ser126Gly rs149391489 variant of unknown significance
3lxb
B
Detail
0.17 (T)
0.001 (N)
N
4 GLA P06280 p.Gly128Glu - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Leu131Pro - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GLA P06280 p.Tyr134Ser - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.02 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Ala135Val - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.50 (T)
0.926 (D)
N
5 GLA P06280 p.Gly138Arg - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Asn139Ser rs138886989 variant of unknown significance
3lxb
B
Detail
0.48 (T)
0 (N)
N
5 GLA P06280 p.Lys140Thr rs150228150 variant of unknown significance
3lxb
B
Detail
0.61 (T)
0.001 (N)
N
6 GLA P06280 p.Cys142Tyr - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.02 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Cys142Arg - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 )
6 GLA P06280 p.Ala143Pro rs104894845 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.21 (T)
0.99 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Ala143Thr rs104894845 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.31 (T)
0.911 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Gly144Val - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.09 (T)
1 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Pro146Ser rs104894837 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.09 (T)
1 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Ser148Arg - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.08 (T)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GLA P06280 p.Ser148Asn - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.07 (T)
0.997 (D)
D ( Predicted by rules : 1 2 3 4 )
6 GLA P06280 p.Asp155His rs113419388 variant of unknown significance
3lxb
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Ala156Thr rs28935195 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.05 (D)
0.999 (D)
D ( Predicted by rules : 1 2 3 4 )
6 GLA P06280 p.Ala156Val - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.27 (T)
0.999 (D)
D ( Predicted by rules : 1 2 3 4 )
6 GLA P06280 p.Trp162Cys - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 )
6 GLA P06280 p.Trp162Arg rs28935196 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 )
7 GLA P06280 p.Gly163Val - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Asp165Val - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.03 (D)
0.999 (D)
D ( Predicted by rules : 1 2 3 4 )
6 GLA P06280 p.Leu166Val - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.02 (D)
0.99 (D)
N
7 GLA P06280 p.Asp170Val - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GLA P06280 p.Gly171Asp - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.33 (T)
1 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Cys172Arg - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 6 )
8 GLA P06280 p.Cys172Tyr - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.07 (T)
1 (D)
D ( Predicted by rules : 1 2 3 4 )
6 GLA P06280 p.Cys174Gly rs181562693 variant of unknown significance
3lxb
B
Detail
(-)
(-)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Gly183Asp - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.47 (T)
1 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.His186Arg rs113959597 variant of unknown significance
3lxb
B
Detail
0.52 (T)
0 (N)
N
5 GLA P06280 p.Met187Val - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.07 (T)
0.976 (D)
D ( Predicted by rules : 1 2 3 )
5 GLA P06280 p.Leu191Pro rs111972736 variant of unknown significance
3lxb
B
Detail
0.03 (D)
1 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Ser201Phe - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.06 (T)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GLA P06280 p.Cys202Tyr - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.20 (T)
1 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Cys202Trp rs104894838 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.04 (D)
1 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Pro205Thr - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.05 (T)
1 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Asn215Ser rs28935197 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.69 (T)
0.384 (N)
N
4 GLA P06280 p.Tyr216Asp - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.04 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Ile219Thr - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.48 (T)
0.814 (D)
N
5 GLA P06280 p.Ile219Asn - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.31 (T)
0.998 (D)
N
6 GLA P06280 p.Cys223Gly - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.41 (T)
1 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Asn224Ser - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Asn224Asp - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.07 (T)
1 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Trp226Arg - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.05 (T)
1 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Arg227Gln rs104894840 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Ala230Thr - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.40 (T)
0.048 (N)
N
5 GLA P06280 p.Asp231Asn - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.03 (D)
0.998 (D)
N
6 GLA P06280 p.Asp234Glu - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.07 (T)
0.998 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Ser235Cys - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.11 (T)
1 (D)
N
4 GLA P06280 p.Trp236Leu - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.06 (T)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 )
7 GLA P06280 p.Trp236Cys - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GLA P06280 p.Ile242Asn - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.21 (T)
1 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Leu243Trp rs112764839 variant of unknown significance
3lxb
B
Detail
0.10 (T)
1 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Asp244Asn - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.58 (T)
0.235 (N)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Asp244His - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.26 (T)
0.813 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Gly258Arg - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.37 (T)
1 (D)
N
4 GLA P06280 p.Pro259Leu - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.04 (D)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GLA P06280 p.Pro259Arg - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.03 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Gly260Ala - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Gly261Asp - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.30 (T)
0.996 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Asn263Ser - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.10 (T)
1 (D)
N
4 GLA P06280 p.Asp264Val rs28935486 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 )
7 GLA P06280 p.Asp264Tyr rs190347120 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 )
6 GLA P06280 p.Pro265Arg - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.14 (T)
1 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Asp266Val rs28935487 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 6 7 )
9 GLA P06280 p.Asp266Asn - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 )
6 GLA P06280 p.Asp266His - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 6 7 )
9 GLA P06280 p.Met267Ile - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.03 (D)
0.998 (D)
N
10 GLA P06280 p.Val269Ala rs28935488 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.97 (T)
0.999 (D)
N
11 GLA P06280 p.Asn272Ser rs28935495 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.20 (T)
1 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Asn272Lys - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.29 (T)
1 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Ser276Gly - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.33 (T)
1 (D)
N
4 GLA P06280 p.Gln279His - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Gln279Glu rs28935485 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
1.00 (T)
0.999 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Gln280His - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.23 (T)
0.983 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Met284Thr - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.12 (T)
1 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Ala285Pro - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.03 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Trp287Gly - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Trp287Cys - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 3 4 )
6 GLA P06280 p.Ala288Asp - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Ile289Val rs140329381 variant of unknown significance
3lxb
B
Detail
0.27 (T)
0.983 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Ile289Phe - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.11 (T)
1 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Ala292Thr rs111812846 variant of unknown significance
3lxb
B
Detail
0.01 (D)
1 (D)
N
4 GLA P06280 p.Met296Ile rs104894846 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.74 (T)
0.997 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Met296Val rs104894830 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.16 (T)
0.996 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Ser297Phe rs28935489 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Asn298Lys - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.77 (T)
1 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Asn298Ser - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.79 (T)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GLA P06280 p.Asn298His - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.29 (T)
1 (D)
D ( Predicted by rules : 1 2 3 4 )
6 GLA P06280 p.Leu300Phe - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Arg301Gln rs104894828 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.29 (T)
1 (D)
N
4 GLA P06280 p.Asp313Tyr rs28935490 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.00 (D)
0.998 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Val316Ile rs142217511 variant of unknown significance
3lxb
B
Detail
0.37 (T)
0.178 (N)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Val316Glu - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Asn320Lys - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Asn320Tyr - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.00 (D)
1 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Gln321Glu - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.04 (D)
0.999 (D)
N
4 GLA P06280 p.Gln327Lys rs28935491 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.23 (T)
1 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Gly328Arg rs104894832 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.26 (T)
1 (D)
D ( Predicted by rules : 1 2 3 4 )
6 GLA P06280 p.Gly328Val - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.21 (T)
1 (D)
D ( Predicted by rules : 1 2 3 4 5 )
7 GLA P06280 p.Gly328Ala rs28935492 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.69 (T)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GLA P06280 p.Glu338Lys - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.59 (T)
1 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Trp340Arg - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.01 (D)
1 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Glu341Lys - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.89 (T)
1 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Arg342Gln rs28935493 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.39 (T)
0.999 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Arg356Trp rs104894827 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.06 (T)
0.999 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Arg356Gln - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.62 (T)
0.102 (N)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Glu358Lys - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.72 (T)
1 (D)
N
4 GLA P06280 p.Glu358Ala - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.61 (T)
1 (D)
N
5 GLA P06280 p.Gly360Cys - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.01 (D)
1 (D)
N
6 GLA P06280 p.Gly361Arg rs28935494 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.53 (T)
1 (D)
N
7 GLA P06280 p.Arg363His rs111422676 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.54 (T)
0.997 (D)
N
8 GLA P06280 p.Ala368Pro rs144994244 variant of unknown significance
3lxb
B
Detail
0.34 (T)
0.001 (N)
N
9 GLA P06280 p.Gly373Ser - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.55 (T)
0.496 (N)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Gly373Asp - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.47 (T)
0.959 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Ala377Asp - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.62 (T)
0.962 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Cys378Tyr - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
1.00 (T)
1 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Cys382Tyr rs113993943 variant of unknown significance
3lxb
B
Detail
0.15 (T)
1 (D)
N
4 GLA P06280 p.Pro409Ala - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.12 (T)
0.999 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Pro409Thr - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.22 (T)
1 (D)
D ( Predicted by rules : 1 2 3 )
5 GLA P06280 p.Thr410Ala rs104894852 Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.76 (T)
0.072 (N)
N
6 GLA P06280 p.Leu414Ser - Fabry disease (FD) [MIM:301500]
3lxb
B
Detail
0.17 (T)
1 (D)
D ( Predicted by rules : 1 )
3 GLA P06280 p.Leu415Pro rs112341092 variant of unknown significance
3lxb
B
Detail
0.07 (T)
1 (D)
D ( Predicted by rules : 1 2 )
4 GLA P06280 p.Met421Val rs144060196 variant of unknown significance
3lxb
B
Detail
0.35 (T)
0 (N)
N