Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_004201 | Disease | p.ALA236PRO | Nail-patella syndrome (NPS) |
Swiss-Prot | VAR_004204 | Disease | p.ALA253VAL | Nail-patella syndrome (NPS) |
Swiss-Prot | VAR_004200 | Disease | p.ARG223GLN | Nail-patella syndrome (NPS) |
Swiss-Prot | VAR_004203 | Disease | p.ARG249PRO | Nail-patella syndrome (NPS) |
Swiss-Prot | VAR_004205 | Disease | p.ASN269LYS | Nail-patella syndrome (NPS) |
Swiss-Prot | VAR_015209 | Disease | p.ASP106GLY | Nail-patella syndrome (NPS) |
Swiss-Prot | VAR_015201 | Disease | p.CYS59ARG | Nail-patella syndrome (NPS) |
Swiss-Prot | VAR_015205 | Disease | p.CYS80ARG | Nail-patella syndrome (NPS) |
Swiss-Prot | VAR_015208 | Disease | p.CYS86ARG | Nail-patella syndrome (NPS) |
Swiss-Prot | VAR_015206 | Disease | p.CYS83GLY | Nail-patella syndrome (NPS) |
Swiss-Prot | VAR_004198 | Disease | p.CYS118PHE | Nail-patella syndrome (NPS) |
Swiss-Prot | VAR_015211 | Disease | p.CYS146PHE | Nail-patella syndrome (NPS) |
Swiss-Prot | VAR_015192 | Disease | p.CYS83PHE | Nail-patella syndrome (NPS) |
Swiss-Prot | VAR_015210 | Disease | p.CYS143SER | Nail-patella syndrome (NPS) |
Swiss-Prot | VAR_015202 | Disease | p.CYS59SER | Nail-patella syndrome (NPS) |
Swiss-Prot | VAR_015194 | Disease | p.CYS103TRP | Nail-patella syndrome (NPS) |
Swiss-Prot | VAR_004199 | Disease | p.CYS165TRP | Nail-patella syndrome (NPS) |
Swiss-Prot | VAR_015193 | Disease | p.CYS83TRP | Nail-patella syndrome (NPS) |
Swiss-Prot | VAR_015195 | Disease | p.CYS118TYR | Nail-patella syndrome (NPS) |
Swiss-Prot | VAR_015197 | Disease | p.CYS140TYR | Nail-patella syndrome (NPS) |
Swiss-Prot | VAR_015212 | Disease | p.CYS146TYR | Nail-patella syndrome (NPS) |
Swiss-Prot | VAR_015207 | Disease | p.CYS83TYR | Nail-patella syndrome (NPS) |
Swiss-Prot | VAR_015190 | Disease | p.HIS77ASN | Nail-patella syndrome (NPS) |
Swiss-Prot | VAR_015203 | Disease | p.HIS77GLN | Nail-patella syndrome (NPS) |
Swiss-Prot | VAR_015196 | Disease | p.HIS137TYR | Nail-patella syndrome (NPS) |
Swiss-Prot | VAR_015204 | Disease | p.HIS77TYR | Nail-patella syndrome (NPS) |
Swiss-Prot | VAR_015213 | Disease | p.LEU252PRO | Nail-patella syndrome (NPS) |
Swiss-Prot | VAR_015191 | Disease | p.LEU81TRP | Nail-patella syndrome (NPS) |
dbSNP | rs10115304 | Polymorphism | p.SER369ARG | N/A |
Swiss-Prot | VAR_047755 | Polymorphism | p.SER75PHE | N/A |
Swiss-Prot | VAR_004202 | Disease | p.SER241PRO | Nail-patella syndrome (NPS) |
Swiss-Prot | VAR_015198 | Disease | p.TRP266CYS | Nail-patella syndrome (NPS) |
OMIM | 602575.0008 | Disease | p.ARG200GLN | NAIL-PATELLA SYNDROME |
OMIM | 602575.0002 | Disease | p.ARG198TER | NAIL-PATELLA SYNDROME |
OMIM | 602575.0007 | Disease | p.ARG208TER | NAIL-PATELLA SYNDROME |
OMIM | 602575.0011 | Disease | p.ARG226TER | NAIL-PATELLA SYNDROME |
OMIM | 602575.0001 | Disease | p.ASN246LYS | NAIL-PATELLA SYNDROME |
OMIM | 602575.0004 | Disease | p.CYS95PHE | NAIL-PATELLA SYNDROME |
OMIM | 602575.0006 | Disease | p.GLN59TER | NAIL-PATELLA SYNDROME |