Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_059012 | Polymorphism | p.ALA253PRO | N/A |
Swiss-Prot | VAR_014096 | Polymorphism | p.ALA168THR | N/A |
Swiss-Prot | VAR_015764 | Polymorphism | p.ALA253VAL | N/A |
Swiss-Prot | VAR_015752 | Disease | p.ALA40VAL | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_014098 | Polymorphism | p.ARG202CYS | N/A |
Swiss-Prot | VAR_014095 | Polymorphism | p.ARG148GLN | N/A |
Swiss-Prot | VAR_070441 | Disease | p.ARG239GLN | Craniometaphyseal dysplasia, autosomal recessive (CMDR) |
dbSNP | rs2227885 | Disease | p.ARG362GLN | Hypoplastic left heart syndrome 1 (HLHS1) |
Swiss-Prot | VAR_032925 | Disease | p.ARG376GLN | Hypoplastic left heart syndrome 1 (HLHS1) |
Swiss-Prot | VAR_015762 | Disease | p.ARG202HIS | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_058997 | Disease | p.ARG76HIS | Hallermann-Streiff syndrome (HSS) |
Swiss-Prot | VAR_015755 | Disease | p.ARG76SER | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_014100 | Polymorphism | p.ARG239TRP | N/A |
Swiss-Prot | VAR_014094 | Polymorphism | p.ASP124GLU | N/A |
Swiss-Prot | VAR_015753 | Disease | p.GLN49LYS | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_058994 | Disease | p.GLN49PRO | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_059003 | Disease | p.GLU110ASP | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_059014 | Polymorphism | p.GLU352GLY | N/A |
Swiss-Prot | VAR_015761 | Disease | p.GLY138ARG | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_015749 | Disease | p.GLY21ARG | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_015750 | Disease | p.GLY22GLU | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_038361 | Disease | p.GLY143SER | Syndactyly 3 (SDTY3) |
Swiss-Prot | VAR_058990 | Disease | p.GLY2VAL | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_058998 | Disease | p.HIS95ARG | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_059008 | Disease | p.HIS194PRO | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_038357 | Disease | p.ILE31MET | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_015759 | Disease | p.ILE130THR | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_059002 | Disease | p.LEU106PRO | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_058992 | Disease | p.LEU11PRO | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_038359 | Disease | p.LEU113PRO | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_058991 | Disease | p.LEU7VAL | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_015756 | Disease | p.LEU90VAL | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_070440 | Disease | p.LYS206ARG | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_015758 | Disease | p.LYS102ASN | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_038360 | Disease | p.LYS134ASN | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_015760 | Disease | p.LYS134GLU | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_015751 | Disease | p.LYS23THR | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_059004 | Disease | p.MET147THR | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_058996 | Disease | p.PRO59HIS | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_014101 | Polymorphism | p.PRO283LEU | N/A |
Swiss-Prot | VAR_059016 | Polymorphism | p.SER365ASN | N/A |
Swiss-Prot | VAR_059017 | Polymorphism | p.SER373GLY | N/A |
Swiss-Prot | VAR_059009 | Disease | p.SER201PHE | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_015748 | Disease | p.SER18PRO | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_038356 | Disease | p.SER27PRO | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_059015 | Polymorphism | p.SER364PRO | N/A |
Swiss-Prot | VAR_059011 | Polymorphism | p.SER251THR | N/A |
Swiss-Prot | VAR_059010 | Disease | p.SER220TYR | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_038358 | Disease | p.SER69TYR | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_059005 | Disease | p.THR154ALA | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_059013 | Polymorphism | p.THR326ALA | N/A |
Swiss-Prot | VAR_059006 | Disease | p.THR154ASN | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_014102 | Polymorphism | p.THR290ASN | N/A |
Swiss-Prot | VAR_014099 | Polymorphism | p.THR204MET | N/A |
Swiss-Prot | VAR_015757 | Disease | p.TYR98CYS | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_014097 | Polymorphism | p.TYR185HIS | N/A |
Swiss-Prot | VAR_015747 | Disease | p.TYR17SER | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_058999 | Disease | p.VAL96ALA | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_059000 | Disease | p.VAL96GLU | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_015763 | Disease | p.VAL216LEU | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_058993 | Disease | p.VAL41LEU | Oculodentodigital dysplasia (ODDD) |
Swiss-Prot | VAR_059001 | Disease | p.VAL96MET | Oculodentodigital dysplasia (ODDD) |
OMIM | 121014.0021 | Disease | p.ARG239GLN | CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE |
OMIM | 121014.0011 | Disease | p.ARG362GLN | HYPOPLASTIC LEFT HEART SYNDROME 1||ATRIOVENTRICULAR SEPTAL DEFECT 3, INCLUDED |
OMIM | 121014.0012 | Disease | p.ARG376GLN | HYPOPLASTIC LEFT HEART SYNDROME 1||ATRIOVENTRICULAR SEPTAL DEFECT 3, INCLUDED |
OMIM | 121014.0017 | Disease | p.ARG76HIS | OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE |
OMIM | 121014.0018 | Disease | p.ARG76SER | OCULODENTODIGITAL DYSPLASIA |
OMIM | 121014.0016 | Disease | p.ARG33TER | OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE |
OMIM | 121014.0005 | Disease | p.GLY21ARG | OCULODENTODIGITAL DYSPLASIA |
OMIM | 121014.0006 | Disease | p.GLY22GLU | OCULODENTODIGITAL DYSPLASIA |
OMIM | 121014.0008 | Disease | p.GLY143SER | SYNDACTYLY, TYPE III |
OMIM | 121014.0013 | Disease | p.HIS194PRO | OCULODENTODIGITAL DYSPLASIA |
OMIM | 121014.0020 | Disease | p.LEU11PHE | OCULODENTODIGITAL DYSPLASIA |
OMIM | 121014.0014 | Disease | p.LEU11PRO | OCULODENTODIGITAL DYSPLASIA |
OMIM | 121014.0022 | Disease | p.LYS206ARG | OCULODENTODIGITAL DYSPLASIA |
OMIM | 121014.0004 | Disease | p.SER18PRO | OCULODENTODIGITAL DYSPLASIA |
OMIM | 121014.0003 | Disease | p.TYR17SER | OCULODENTODIGITAL DYSPLASIA |
OMIM | 121014.0009 | Disease | p.VAL96MET | OCULODENTODIGITAL DYSPLASIA |