Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_032953 | Disease | p.ALA443GLY | Holoprosencephaly 7 (HPE7) |
Swiss-Prot | VAR_032952 | Disease | p.ALA393THR | Holoprosencephaly 7 (HPE7) |
Swiss-Prot | VAR_007847 | Disease | p.ARG1114TRP | Basal cell nevus syndrome (BCNS) |
Swiss-Prot | VAR_010976 | Disease | p.ASP513TYR | Basal cell nevus syndrome (BCNS) |
Swiss-Prot | VAR_010984 | Disease | p.GLU1438ASP | Basal cell nevus syndrome (BCNS) |
Swiss-Prot | VAR_010982 | Polymorphism | p.GLU1242LYS | N/A |
Swiss-Prot | VAR_010979 | Disease | p.GLY1069ARG | Basal cell nevus syndrome (BCNS) |
Swiss-Prot | VAR_010974 | Disease | p.GLY509ARG | Basal cell nevus syndrome (BCNS) |
Swiss-Prot | VAR_010975 | Disease | p.GLY509VAL | Basal cell nevus syndrome (BCNS) |
Swiss-Prot | VAR_007843 | Disease | p.LEU175PRO | Basal cell nevus syndrome (BCNS) |
Swiss-Prot | VAR_007844 | Disease | p.PHE376SER | Basal cell nevus syndrome (BCNS) |
Swiss-Prot | VAR_020847 | Polymorphism | p.PRO1282LEU | N/A |
dbSNP | rs357564 | Polymorphism | p.PRO1315LEU | N/A |
Swiss-Prot | VAR_032956 | Disease | p.SER827GLY | Holoprosencephaly 7 (HPE7) |
Swiss-Prot | VAR_010980 | Disease | p.SER1132PRO | Basal cell nevus syndrome (BCNS) |
Swiss-Prot | VAR_010981 | Disease | p.SER1132TYR | Basal cell nevus syndrome (BCNS) |
Swiss-Prot | VAR_032958 | Disease | p.THR1052MET | Holoprosencephaly 7 (HPE7) |
Swiss-Prot | VAR_032954 | Disease | p.THR728MET | Holoprosencephaly 7 (HPE7) |
Swiss-Prot | VAR_020845 | Disease | p.THR230PRO | Basal cell nevus syndrome (BCNS) |
dbSNP | rs2236405 | Polymorphism | p.THR1195SER | N/A |
Swiss-Prot | VAR_032955 | Disease | p.VAL751GLY | Holoprosencephaly 7 (HPE7) |
Swiss-Prot | VAR_032957 | Disease | p.VAL908GLY | Holoprosencephaly 7 (HPE7) |
Swiss-Prot | VAR_010978 | Polymorphism | p.VAL829MET | N/A |
OMIM | 601309.0011 | Disease | p.ALA393THR | HOLOPROSENCEPHALY 7 |
OMIM | 601309.0003 | Disease | p.GLN210TER | BASAL CELL NEVUS SYNDROME |
OMIM | 601309.0013 | Disease | p.SER827GLY | HOLOPROSENCEPHALY 7 |
OMIM | 601309.0014 | Disease | p.THR1052MET | HOLOPROSENCEPHALY 7 |
OMIM | 601309.0012 | Disease | p.THR728MET | HOLOPROSENCEPHALY 7 |
OMIM | 601309.0017 | Disease | p.TRP129TER | BASAL CELL NEVUS SYNDROME |
OMIM | 601309.0015 | Disease | p.VAL908GLY | HOLOPROSENCEPHALY 7 |