Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_064173 | Polymorphism | p.ALA206ASP | N/A |
Swiss-Prot | VAR_064163 | Polymorphism | p.ALA47THR | N/A |
Swiss-Prot | VAR_064169 | Disease | p.ALA126VAL | Retinitis pigmentosa 53 (RP53) |
Swiss-Prot | VAR_064174 | Polymorphism | p.ALA206VAL | N/A |
Swiss-Prot | VAR_067193 | Polymorphism | p.ALA79VAL | N/A |
Swiss-Prot | VAR_064172 | Polymorphism | p.ARG193CYS | N/A |
dbSNP | rs17852293 | Polymorphism | p.ARG161GLN | N/A |
Swiss-Prot | VAR_064165 | Polymorphism | p.ARG65GLN | N/A |
Swiss-Prot | VAR_064176 | Polymorphism | p.ARG234HIS | N/A |
Swiss-Prot | VAR_064177 | Polymorphism | p.ARG239TRP | N/A |
Swiss-Prot | VAR_064168 | Polymorphism | p.ASN125LYS | N/A |
Swiss-Prot | VAR_064167 | Polymorphism | p.ASP101ASN | N/A |
Swiss-Prot | VAR_064179 | Polymorphism | p.CYS285TYR | N/A |
Swiss-Prot | VAR_064166 | Disease | p.GLY76ARG | Retinitis pigmentosa 53 (RP53) |
Swiss-Prot | VAR_064170 | Polymorphism | p.GLY145GLU | N/A |
Swiss-Prot | VAR_020862 | Disease | p.HIS151ASN | Leber congenital amaurosis 13 (LCA13) |
Swiss-Prot | VAR_020861 | Disease | p.HIS151ASP | Leber congenital amaurosis 13 (LCA13) |
Swiss-Prot | VAR_020859 | Disease | p.ILE51ASN | Leber congenital amaurosis 13 (LCA13) |
Swiss-Prot | VAR_020860 | Disease | p.LEU99ILE | Leber congenital amaurosis 13 (LCA13) |
Swiss-Prot | VAR_064178 | Polymorphism | p.LEU274PRO | N/A |
Swiss-Prot | VAR_020865 | Disease | p.PRO230ALA | Leber congenital amaurosis 13 (LCA13) |
Swiss-Prot | VAR_064175 | Polymorphism | p.PRO230LEU | N/A |
Swiss-Prot | VAR_020863 | Disease | p.SER175PRO | Leber congenital amaurosis 13 (LCA13) |
Swiss-Prot | VAR_064171 | Polymorphism | p.THR155ILE | N/A |
Swiss-Prot | VAR_020858 | Disease | p.THR49MET | Leber congenital amaurosis 13 (LCA13) |
Swiss-Prot | VAR_064164 | Polymorphism | p.THR55MET | N/A |
Swiss-Prot | VAR_020864 | Disease | p.TYR226CYS | Leber congenital amaurosis 13 (LCA13) |
OMIM | 608830.0016 | Disease | p.ALA126VAL | RETINITIS PIGMENTOSA 53 |
OMIM | 608830.0005 | Disease | p.ARG62TER | LEBER CONGENITAL AMAUROSIS 13 |
OMIM | 608830.0003 | Disease | p.GLN189TER | LEBER CONGENITAL AMAUROSIS 13 |
OMIM | 608830.0006 | Disease | p.GLY127TER | LEBER CONGENITAL AMAUROSIS 13 |
OMIM | 608830.0007 | Disease | p.HIS151ASN | LEBER CONGENITAL AMAUROSIS 13 |
OMIM | 608830.0009 | Disease | p.HIS151ASP | LEBER CONGENITAL AMAUROSIS 13 |
OMIM | 608830.0012 | Disease | p.ILE51ASN | LEBER CONGENITAL AMAUROSIS 13 |
OMIM | 608830.0010 | Disease | p.LEU99ILE | LEBER CONGENITAL AMAUROSIS 13 |
OMIM | 608830.0008 | Disease | p.PRO230ALA | LEBER CONGENITAL AMAUROSIS 13 |
OMIM | 608830.0011 | Disease | p.SER175PRO | LEBER CONGENITAL AMAUROSIS 13 |
OMIM | 608830.0014 | Disease | p.THR155ILE | LEBER CONGENITAL AMAUROSIS 13 |
OMIM | 608830.0004 | Disease | p.THR49MET | LEBER CONGENITAL AMAUROSIS 13 |
OMIM | 608830.0001 | Disease | p.TYR226CYS | LEBER CONGENITAL AMAUROSIS 13 |