Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_008216 | Disease | p.ALA98GLU | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008231 | Disease | p.ARG141CYS | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008242 | Disease | p.ARG182CYS | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008247 | Disease | p.ARG197CYS | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008251 | Disease | p.ARG200CYS | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_065330 | Disease | p.ARG209CYS | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008217 | Disease | p.ARG102GLN | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_065331 | Disease | p.ARG213GLN | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008232 | Disease | p.ARG141GLY | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_065328 | Disease | p.ARG156GLY | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008233 | Disease | p.ARG141HIS | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008248 | Disease | p.ARG197HIS | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008252 | Disease | p.ARG200HIS | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008255 | Disease | p.ARG209HIS | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008184 | Disease | p.ARG102TRP | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008256 | Disease | p.ARG213TRP | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008239 | Polymorphism | p.ASP158ASN | N/A |
Swiss-Prot | VAR_065327 | Disease | p.ASP145HIS | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008235 | Disease | p.ASP143VAL | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008261 | Disease | p.CYS219ARG | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008262 | Disease | p.CYS223ARG | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008260 | Disease | p.CYS219GLY | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008211 | Disease | p.CYS59SER | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008234 | Disease | p.CYS142TRP | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008222 | Disease | p.CYS110TYR | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008236 | Disease | p.GLU146ASP | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008180 | Disease | p.GLU72ASP | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008258 | Disease | p.GLU215GLN | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008237 | Disease | p.GLU146LYS | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008257 | Disease | p.GLU215LYS | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008181 | Disease | p.GLU72LYS | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008213 | Disease | p.GLY70ALA | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008185 | Disease | p.GLY109ARG | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008230 | Disease | p.GLY140ARG | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008241 | Disease | p.GLY178ASP | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008220 | Disease | p.GLY109GLU | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008229 | Disease | p.GLY140GLU | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008214 | Disease | p.GLY70SER | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008221 | Disease | p.GLY109TRP | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008226 | Disease | p.GLY135VAL | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008182 | Disease | p.GLY74VAL | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008254 | Disease | p.HIS207GLN | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008227 | Disease | p.ILE136THR | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008249 | Disease | p.ILE199THR | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008218 | Disease | p.LEU103ARG | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008209 | Disease | p.LEU12HIS | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008224 | Disease | p.LEU113PHE | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008225 | Disease | p.LEU127PRO | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008210 | Disease | p.LEU13PRO | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008259 | Disease | p.LEU216PRO | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_012078 | Polymorphism | p.LYS222ASN | N/A |
Swiss-Prot | VAR_008219 | Disease | p.PHE108CYS | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008243 | Disease | p.PRO192ARG | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_065329 | Disease | p.PRO192LEU | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008245 | Disease | p.PRO193LEU | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008253 | Disease | p.PRO203LEU | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008244 | Disease | p.PRO192SER | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008246 | Disease | p.PRO193SER | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_065326 | Disease | p.SER73PRO | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008228 | Disease | p.THR138ALA | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008183 | Disease | p.TRP96ARG | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008223 | Disease | p.TRP112CYS | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008240 | Disease | p.TRP163CYS | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008238 | Disease | p.TYR155CYS | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008212 | Disease | p.TYR65CYS | Retinoschisis juvenile X-linked 1 (XLRS1) |
Swiss-Prot | VAR_008215 | Disease | p.TYR89CYS | Retinoschisis juvenile X-linked 1 (XLRS1) |
OMIM | 300839.0011 | Disease | p.ARG102GLN | RETINOSCHISIS 1, X-LINKED, JUVENILE |
OMIM | 300839.0002 | Disease | p.ARG102TRP | RETINOSCHISIS 1, X-LINKED, JUVENILE |
OMIM | 300839.0008 | Disease | p.CYS223ARG | RETINOSCHISIS 1, X-LINKED, JUVENILE |
OMIM | 300839.0004 | Disease | p.GLU72ASP | RETINOSCHISIS 1, X-LINKED, JUVENILE |
OMIM | 300839.0003 | Disease | p.GLU72LYS | RETINOSCHISIS 1, X-LINKED, JUVENILE |
OMIM | 300839.0006 | Disease | p.GLY109ARG | RETINOSCHISIS 1, X-LINKED, JUVENILE |
OMIM | 300839.0005 | Disease | p.GLY74VAL | RETINOSCHISIS 1, X-LINKED, JUVENILE |
OMIM | 300839.0007 | Disease | p.LEU13PRO | RETINOSCHISIS 1, X-LINKED, JUVENILE |
OMIM | 300839.0010 | Disease | p.PRO203LEU | RETINOSCHISIS 1, X-LINKED, JUVENILE |
OMIM | 300839.0001 | Disease | p.TRP96ARG | RETINOSCHISIS 1, X-LINKED, JUVENILE |