Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_067158 | Polymorphism | p.ALA1365ASP | N/A |
Swiss-Prot | VAR_022982 | Polymorphism | p.ALA1354THR | N/A |
Swiss-Prot | VAR_067146 | Polymorphism | p.ALA937THR | N/A |
Swiss-Prot | VAR_011641 | Disease | p.ALA161VAL | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_011644 | Disease | p.ARG764CYS | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_022959 | Polymorphism | p.ARG769GLN | N/A |
Swiss-Prot | VAR_022967 | Polymorphism | p.ARG905GLN | N/A |
Swiss-Prot | VAR_022981 | Polymorphism | p.ARG1331HIS | N/A |
Swiss-Prot | VAR_022983 | Disease | p.ARG1383HIS | Retinitis pigmentosa 12 (RP12) |
dbSNP | rs62636287 | Polymorphism | p.ARG769HIS | N/A |
Swiss-Prot | VAR_022979 | Disease | p.ASN1317HIS | Leber congenital amaurosis 8 (LCA8) |
Swiss-Prot | VAR_022970 | Disease | p.ASN986ILE | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_067130 | Disease | p.ASN312LYS | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_022966 | Disease | p.ASN894SER | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_022961 | Disease | p.ASP837HIS | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_067137 | Disease | p.ASP564TYR | Leber congenital amaurosis 8 (LCA8) |
Swiss-Prot | VAR_022951 | Disease | p.ASP584TYR | Leber congenital amaurosis 8 (LCA8) |
Swiss-Prot | VAR_067135 | Polymorphism | p.ASP491VAL | N/A |
Swiss-Prot | VAR_011649 | Disease | p.CYS1181ARG | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_022949 | Disease | p.CYS480ARG | Leber congenital amaurosis 8 (LCA8) |
Swiss-Prot | VAR_067153 | Disease | p.CYS1174GLY | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_022948 | Disease | p.CYS480GLY | Leber congenital amaurosis 8 (LCA8) |
Swiss-Prot | VAR_022965 | Disease | p.CYS891GLY | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_022978 | Disease | p.CYS1218PHE | Leber congenital amaurosis 8 (LCA8) |
Swiss-Prot | VAR_067157 | Disease | p.CYS1332PHE | Leber congenital amaurosis 8 (LCA8) |
Swiss-Prot | VAR_022943 | Disease | p.CYS195PHE | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_064180 | Disease | p.CYS27PHE | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_067155 | Polymorphism | p.CYS1223SER | N/A |
Swiss-Prot | VAR_022980 | Disease | p.CYS1321SER | Leber congenital amaurosis 8 (LCA8) |
Swiss-Prot | VAR_067126 | Disease | p.CYS157SER | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_064181 | Disease | p.CYS1165TRP | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_011642 | Disease | p.CYS250TRP | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_067125 | Disease | p.CYS45TRP | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_067129 | Polymorphism | p.CYS310TYR | N/A |
Swiss-Prot | VAR_022946 | Disease | p.CYS383TYR | Leber congenital amaurosis 8 (LCA8) |
Swiss-Prot | VAR_067132 | Disease | p.CYS438TYR | Leber congenital amaurosis 8 (LCA8) |
Swiss-Prot | VAR_022952 | Disease | p.CYS587TYR | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_022954 | Disease | p.CYS681TYR | Leber congenital amaurosis 8 (LCA8) |
Swiss-Prot | VAR_067147 | Disease | p.CYS939TYR | Leber congenital amaurosis 8 (LCA8) |
Swiss-Prot | VAR_011645 | Disease | p.CYS948TYR | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_022953 | Polymorphism | p.GLN679GLU | N/A |
Swiss-Prot | VAR_022955 | Disease | p.GLU710GLN | Leber congenital amaurosis 8 (LCA8) |
Swiss-Prot | VAR_067128 | Polymorphism | p.GLU222LYS | N/A |
Swiss-Prot | VAR_067140 | Disease | p.GLU710VAL | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_022974 | Disease | p.GLY1103ARG | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_022977 | Disease | p.GLY1205ARG | Leber congenital amaurosis 8 (LCA8) |
Swiss-Prot | VAR_067133 | Disease | p.GLY454ARG | Leber congenital amaurosis 8 (LCA8) |
Swiss-Prot | VAR_022962 | Disease | p.GLY846ARG | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_067131 | Disease | p.GLY333ASP | Leber congenital amaurosis 8 (LCA8) |
Swiss-Prot | VAR_022963 | Disease | p.GLY850SER | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_022968 | Polymorphism | p.GLY959SER | N/A |
Swiss-Prot | VAR_011648 | Disease | p.ILE1100ARG | Leber congenital amaurosis 8 (LCA8) |
Swiss-Prot | VAR_067148 | Disease | p.ILE1003THR | Leber congenital amaurosis 8 (LCA8) |
Swiss-Prot | VAR_022973 | Disease | p.ILE1100THR | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_022944 | Polymorphism | p.ILE205THR | N/A |
Swiss-Prot | VAR_022964 | Disease | p.ILE852THR | Leber congenital amaurosis 8 (LCA8) |
Swiss-Prot | VAR_022971 | Disease | p.ILE989THR | Leber congenital amaurosis 8 (LCA8) |
Swiss-Prot | VAR_022976 | Disease | p.LEU1107ARG | Leber congenital amaurosis 8 (LCA8) |
Swiss-Prot | VAR_011647 | Disease | p.LEU1071PRO | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_022975 | Disease | p.LEU1107PRO | Leber congenital amaurosis 8 (LCA8) |
Swiss-Prot | VAR_067136 | Disease | p.LEU535PRO | Leber congenital amaurosis 8 (LCA8) |
Swiss-Prot | VAR_067142 | Disease | p.LEU753PRO | Leber congenital amaurosis 8 (LCA8) |
Swiss-Prot | VAR_067149 | Disease | p.LEU1012SER | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_068363 | Disease | p.LYS534ASN | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_011646 | Disease | p.MET1041THR | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_022956 | Disease | p.MET741THR | Leber congenital amaurosis 8 (LCA8) |
Swiss-Prot | VAR_067134 | Polymorphism | p.PHE488SER | N/A |
Swiss-Prot | VAR_022941 | Disease | p.PHE144VAL | Leber congenital amaurosis 8 (LCA8) |
Swiss-Prot | VAR_067156 | Disease | p.PRO1305LEU | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_067159 | Disease | p.PRO1381LEU | Leber congenital amaurosis 8 (LCA8) |
Swiss-Prot | VAR_022960 | Disease | p.PRO836THR | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_067150 | Disease | p.SER1025ASN | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_022972 | Disease | p.SER1025ILE | Leber congenital amaurosis 8 (LCA8) |
Swiss-Prot | VAR_067141 | Disease | p.SER740PHE | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_067138 | Polymorphism | p.SER635PRO | N/A |
Swiss-Prot | VAR_067151 | Disease | p.THR1099LYS | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_022945 | Polymorphism | p.THR289MET | N/A |
Swiss-Prot | VAR_011643 | Disease | p.THR745MET | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_067144 | Polymorphism | p.THR821MET | N/A |
Swiss-Prot | VAR_067139 | Disease | p.TRP675CYS | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_067152 | Disease | p.TYR1161CYS | Leber congenital amaurosis 8 (LCA8) |
Swiss-Prot | VAR_067154 | Polymorphism | p.TYR1198CYS | N/A |
Swiss-Prot | VAR_022947 | Disease | p.TYR433CYS | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_022950 | Disease | p.VAL578GLU | Retinitis pigmentosa 12 (RP12) |
Swiss-Prot | VAR_067145 | Polymorphism | p.VAL901ILE | N/A |
Swiss-Prot | VAR_022942 | Disease | p.VAL162MET | Pigmented paravenous chorioretinal atrophy (PPCRA) |
OMIM | 604210.0004 | Disease | p.ARG764CYS | RETINITIS PIGMENTOSA 12 |
OMIM | 604210.0009 | Disease | p.CYS1181ARG | RETINITIS PIGMENTOSA 12 |
OMIM | 604210.0013 | Disease | p.CYS948TYR | LEBER CONGENITAL AMAUROSIS 8||RETINITIS PIGMENTOSA 12, INCLUDED |
OMIM | 604210.0007 | Disease | p.GLU1333TER | LEBER CONGENITAL AMAUROSIS 8 |
OMIM | 604210.0003 | Disease | p.GLU995TER | RETINITIS PIGMENTOSA 12 |
OMIM | 604210.0011 | Disease | p.GLY1103ARG | LEBER CONGENITAL AMAUROSIS 8||RETINITIS PIGMENTOSA 12, INCLUDED |
OMIM | 604210.0006 | Disease | p.ILE1100ARG | LEBER CONGENITAL AMAUROSIS 8 |
OMIM | 604210.0008 | Disease | p.LYS801TER | RETINITIS PIGMENTOSA 12 |
OMIM | 604210.0002 | Disease | p.MET1041THR | RETINITIS PIGMENTOSA 12 |
OMIM | 604210.0005 | Disease | p.THR745MET | RETINITIS PIGMENTOSA 12 |
OMIM | 604210.0010 | Disease | p.VAL162MET | PIGMENTED PARAVENOUS CHORIORETINAL ATROPHY |