Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_013051 | Disease | p.ALA806ASP | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_064195 | Disease | p.ALA107THR | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_064196 | Disease | p.ALA107VAL | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_064222 | Disease | p.ALA739VAL | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_064226 | Polymorphism | p.ALA851VAL | N/A |
Swiss-Prot | VAR_013055 | Disease | p.ARG1140CYS | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_064201 | Disease | p.ARG299CYS | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_013038 | Disease | p.ARG367CYS | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_064211 | Disease | p.ARG558CYS | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_013048 | Disease | p.ARG743CYS | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_013053 | Disease | p.ARG831CYS | Nephrotic syndrome 1 (NPHS1) |
dbSNP | rs33950747 | Polymorphism | p.ARG408GLN | N/A |
Swiss-Prot | VAR_064209 | Disease | p.ARG460GLN | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_064215 | Disease | p.ARG586GLY | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_013050 | Disease | p.ARG802PRO | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_064228 | Disease | p.ARG976SER | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_064198 | Disease | p.ARG256TRP | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_064205 | Disease | p.ARG379TRP | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_064206 | Disease | p.ARG407TRP | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_013049 | Disease | p.ARG802TRP | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_064218 | Disease | p.ASN673LYS | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_013054 | Polymorphism | p.ASN1077SER | N/A |
Swiss-Prot | VAR_013052 | Disease | p.ASP819VAL | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_064200 | Disease | p.CYS265ARG | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_064208 | Disease | p.CYS417PHE | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_013044 | Disease | p.CYS528PHE | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_013046 | Disease | p.CYS623PHE | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_013043 | Disease | p.CYS465TYR | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_064221 | Polymorphism | p.GLU725ASP | N/A |
dbSNP | rs3814995 | Polymorphism | p.GLU117LYS | N/A |
Swiss-Prot | VAR_013042 | Polymorphism | p.GLU447LYS | N/A |
Swiss-Prot | VAR_013035 | Disease | p.GLY270CYS | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_064207 | Disease | p.GLY412CYS | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_064203 | Disease | p.GLY347GLU | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_064217 | Polymorphism | p.HIS617ARG | N/A |
Swiss-Prot | VAR_013031 | Disease | p.ILE171ASN | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_013033 | Disease | p.ILE173ASN | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_067252 | Disease | p.ILE742THR | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_064216 | Disease | p.LEU587ARG | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_013045 | Disease | p.LEU610GLN | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_049971 | Polymorphism | p.LEU392PRO | N/A |
Swiss-Prot | VAR_064224 | Disease | p.LEU832PRO | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_013040 | Disease | p.LEU376VAL | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_064194 | Disease | p.LEU96VAL | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_064199 | Polymorphism | p.PRO264ARG | N/A |
Swiss-Prot | VAR_064214 | Disease | p.PRO575GLN | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_064202 | Disease | p.PRO340HIS | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_064197 | Disease | p.PRO167LEU | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_064204 | Disease | p.PRO368LEU | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_013039 | Disease | p.PRO368SER | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_064210 | Disease | p.PRO519SER | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_013037 | Disease | p.SER366ARG | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_064212 | Disease | p.SER569ARG | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_064213 | Disease | p.SER572ASN | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_013047 | Disease | p.SER724CYS | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_013036 | Disease | p.SER350PRO | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_064227 | Disease | p.SER910PRO | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_049970 | Polymorphism | p.THR233ALA | N/A |
Swiss-Prot | VAR_064219 | Disease | p.TRP681CYS | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_013029 | Disease | p.TRP64SER | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_064220 | Disease | p.VAL709GLY | Nephrotic syndrome 1 (NPHS1) |
dbSNP | rs34736717 | Polymorphism | p.VAL991LEU | N/A |
Swiss-Prot | VAR_064223 | Disease | p.VAL822MET | Nephrotic syndrome 1 (NPHS1) |
Swiss-Prot | VAR_064225 | Disease | p.VAL834PHE | Nephrotic syndrome 1 (NPHS1) |
OMIM | 602716.0002 | Disease | p.ARG1109TER | NEPHROTIC SYNDROME, TYPE 1 |
OMIM | 602716.0010 | Disease | p.ARG1160TER | NEPHROTIC SYNDROME, TYPE 1 |
OMIM | 602716.0007 | Disease | p.ASP819VAL | NEPHROTIC SYNDROME, TYPE 1 |
OMIM | 602716.0008 | Disease | p.CYS265ARG | NEPHROTIC SYNDROME, TYPE 1 |
OMIM | 602716.0007 | Disease | p.GLU447LYS | NEPHROTIC SYNDROME, TYPE 1 |
OMIM | 602716.0009 | Disease | p.VAL822MET | NEPHROTIC SYNDROME, TYPE 1 |