Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_054980 | Polymorphism | p.ARG681HIS | N/A |
Swiss-Prot | VAR_058365 | Disease | p.ASN1091SER | Arthrogryposis, distal, 9 (DA9) |
Swiss-Prot | VAR_058374 | Disease | p.ASP1408ASN | Arthrogryposis, distal, 9 (DA9) |
Swiss-Prot | VAR_010739 | Disease | p.ASP1115HIS | Arthrogryposis, distal, 9 (DA9) |
Swiss-Prot | VAR_058367 | Disease | p.CYS1142ARG | Arthrogryposis, distal, 9 (DA9) |
Swiss-Prot | VAR_054985 | Disease | p.CYS1240ARG | Arthrogryposis, distal, 9 (DA9) |
Swiss-Prot | VAR_054987 | Disease | p.CYS1268ARG | Arthrogryposis, distal, 9 (DA9) |
Swiss-Prot | VAR_058375 | Disease | p.CYS1425ARG | Arthrogryposis, distal, 9 (DA9) |
Swiss-Prot | VAR_010740 | Disease | p.CYS1142PHE | Arthrogryposis, distal, 9 (DA9) |
Swiss-Prot | VAR_058369 | Disease | p.CYS1156PHE | Arthrogryposis, distal, 9 (DA9) |
Swiss-Prot | VAR_058371 | Disease | p.CYS1246PHE | Arthrogryposis, distal, 9 (DA9) |
Swiss-Prot | VAR_058372 | Disease | p.CYS1384PHE | Arthrogryposis, distal, 9 (DA9) |
Swiss-Prot | VAR_002351 | Disease | p.CYS1434SER | Arthrogryposis, distal, 9 (DA9) |
Swiss-Prot | VAR_010741 | Disease | p.CYS1253TRP | Arthrogryposis, distal, 9 (DA9) |
Swiss-Prot | VAR_054986 | Disease | p.CYS1257TRP | Arthrogryposis, distal, 9 (DA9) |
Swiss-Prot | VAR_054984 | Disease | p.CYS1198TYR | Arthrogryposis, distal, 9 (DA9) |
Swiss-Prot | VAR_002350 | Disease | p.CYS1253TYR | Arthrogryposis, distal, 9 (DA9) |
Swiss-Prot | VAR_058373 | Disease | p.CYS1384TYR | Arthrogryposis, distal, 9 (DA9) |
Swiss-Prot | VAR_058370 | Disease | p.GLU1161LYS | Arthrogryposis, distal, 9 (DA9) |
Swiss-Prot | VAR_015851 | Disease | p.GLU391LYS | Arthrogryposis, distal, 9 (DA9) |
Swiss-Prot | VAR_064705 | Polymorphism | p.GLU2062VAL | N/A |
Swiss-Prot | VAR_054981 | Disease | p.GLY1057ASP | Arthrogryposis, distal, 9 (DA9) |
Swiss-Prot | VAR_054983 | Disease | p.GLY1179CYS | Arthrogryposis, distal, 9 (DA9) |
Swiss-Prot | VAR_058364 | Disease | p.GLY754SER | Arthrogryposis, distal, 9 (DA9) |
Swiss-Prot | VAR_054982 | Disease | p.ILE1093THR | Arthrogryposis, distal, 9 (DA9) |
dbSNP | rs117524265 | Polymorphism | p.ILE243THR | N/A |
Swiss-Prot | VAR_054990 | Polymorphism | p.LEU2581SER | N/A |
dbSNP | rs32209 | Polymorphism | p.MET2311VAL | N/A |
Swiss-Prot | VAR_054989 | Polymorphism | p.PHE2266LEU | N/A |
Swiss-Prot | VAR_016143 | Polymorphism | p.PRO2428THR | N/A |
dbSNP | rs2291628 | Polymorphism | p.SER2580LEU | N/A |
Swiss-Prot | VAR_058366 | Disease | p.SER1122PRO | Arthrogryposis, distal, 9 (DA9) |
Swiss-Prot | VAR_014664 | Polymorphism | p.SER2771PRO | N/A |
Swiss-Prot | VAR_055415 | Polymorphism | p.THR2278MET | N/A |
Swiss-Prot | VAR_054979 | Polymorphism | p.THR594SER | N/A |
Swiss-Prot | VAR_054988 | Polymorphism | p.TRP1772GLY | N/A |
Swiss-Prot | VAR_058368 | Disease | p.TYR1146CYS | Arthrogryposis, distal, 9 (DA9) |
dbSNP | rs154001 | Polymorphism | p.VAL965ILE | N/A |
OMIM | 612570.0010 | Disease | p.ASN1259LYS | CONTRACTURAL ARACHNODACTYLY, CONGENITAL |
OMIM | 612570.0007 | Disease | p.ASP1114HIS | CONTRACTURAL ARACHNODACTYLY, CONGENITAL |
OMIM | 612570.0008 | Disease | p.CYS1141PHE | CONTRACTURAL ARACHNODACTYLY, CONGENITAL |
OMIM | 612570.0009 | Disease | p.CYS1252TRP | CONTRACTURAL ARACHNODACTYLY, CONGENITAL |
OMIM | 612570.0001 | Disease | p.CYS1252TYR | CONTRACTURAL ARACHNODACTYLY, CONGENITAL |
OMIM | 612570.0002 | Disease | p.GLU390LYS | CONTRACTURAL ARACHNODACTYLY, CONGENITAL |