Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_066793 | Disease | p.ALA311ASP | Multiple epiphyseal dysplasia 1 (EDM1) |
Swiss-Prot | VAR_016257 | Polymorphism | p.ALA109GLY | N/A |
Swiss-Prot | VAR_046796 | Polymorphism | p.ARG381CYS | N/A |
Swiss-Prot | VAR_016258 | Polymorphism | p.ARG224GLY | N/A |
Swiss-Prot | VAR_016261 | Polymorphism | p.ARG285PRO | N/A |
Swiss-Prot | VAR_066826 | Disease | p.ARG718PRO | Multiple epiphyseal dysplasia 1 (EDM1) |
Swiss-Prot | VAR_066827 | Disease | p.ARG718TRP | Multiple epiphyseal dysplasia 1 (EDM1) |
dbSNP | rs61739916 | Polymorphism | p.ASN386ASP | N/A |
Swiss-Prot | VAR_066812 | Disease | p.ASN415LYS | Multiple epiphyseal dysplasia 1 (EDM1) |
Swiss-Prot | VAR_007640 | Disease | p.ASN523LYS | Multiple epiphyseal dysplasia 1 (EDM1) |
Swiss-Prot | VAR_007630 | Disease | p.ASN453SER | Multiple epiphyseal dysplasia 1 (EDM1) |
Swiss-Prot | VAR_026240 | Disease | p.ASP420ALA | Multiple epiphyseal dysplasia 1 (EDM1) |
Swiss-Prot | VAR_007614 | Disease | p.ASP290ASN | Pseudoachondroplasia (PSACH) |
Swiss-Prot | VAR_066801 | Disease | p.ASP374ASN | Multiple epiphyseal dysplasia 1 (EDM1) |
Swiss-Prot | VAR_066802 | Disease | p.ASP376ASN | Multiple epiphyseal dysplasia 1 (EDM1) |
Swiss-Prot | VAR_066804 | Disease | p.ASP385ASN | Multiple epiphyseal dysplasia 1 (EDM1) |
Swiss-Prot | VAR_066815 | Disease | p.ASP446ASN | Pseudoachondroplasia (PSACH) |
Swiss-Prot | VAR_066820 | Disease | p.ASP475ASN | Pseudoachondroplasia (PSACH) |
Swiss-Prot | VAR_007639 | Disease | p.ASP518ASN | Pseudoachondroplasia (PSACH) |
Swiss-Prot | VAR_066791 | Disease | p.ASP290GLY | Pseudoachondroplasia (PSACH) |
Swiss-Prot | VAR_066794 | Disease | p.ASP317GLY | Multiple epiphyseal dysplasia 1 (EDM1) |
Swiss-Prot | VAR_066795 | Disease | p.ASP326GLY | Multiple epiphyseal dysplasia 1 (EDM1) |
Swiss-Prot | VAR_007635 | Disease | p.ASP473GLY | Pseudoachondroplasia (PSACH) |
Swiss-Prot | VAR_007637 | Disease | p.ASP482GLY | Pseudoachondroplasia (PSACH) |
Swiss-Prot | VAR_066822 | Disease | p.ASP507GLY | Pseudoachondroplasia (PSACH) |
Swiss-Prot | VAR_066823 | Disease | p.ASP511GLY | Pseudoachondroplasia (PSACH) |
Swiss-Prot | VAR_066824 | Disease | p.ASP515GLY | Pseudoachondroplasia (PSACH) |
Swiss-Prot | VAR_066808 | Disease | p.ASP397HIS | Multiple epiphyseal dysplasia 1 (EDM1) |
Swiss-Prot | VAR_066819 | Disease | p.ASP473HIS | Pseudoachondroplasia (PSACH) |
Swiss-Prot | VAR_066796 | Disease | p.ASP326TYR | Pseudoachondroplasia (PSACH) |
Swiss-Prot | VAR_007617 | Disease | p.ASP342TYR | Multiple epiphyseal dysplasia 1 (EDM1) |
Swiss-Prot | VAR_007620 | Disease | p.ASP361TYR | Multiple epiphyseal dysplasia 1 (EDM1) |
Swiss-Prot | VAR_066805 | Disease | p.ASP385TYR | Multiple epiphyseal dysplasia 1 (EDM1) |
Swiss-Prot | VAR_007627 | Disease | p.ASP408TYR | Multiple epiphyseal dysplasia 1 (EDM1) |
Swiss-Prot | VAR_007634 | Disease | p.ASP472TYR | Pseudoachondroplasia (PSACH) |
Swiss-Prot | VAR_007618 | Disease | p.ASP349VAL | Pseudoachondroplasia (PSACH) |
Swiss-Prot | VAR_007619 | Disease | p.ASP361VAL | Multiple epiphyseal dysplasia 1 (EDM1) |
Swiss-Prot | VAR_066803 | Disease | p.ASP378VAL | Pseudoachondroplasia (PSACH) |
Swiss-Prot | VAR_007616 | Disease | p.CYS328ARG | Pseudoachondroplasia (PSACH) |
Swiss-Prot | VAR_017102 | Disease | p.CYS348ARG | Pseudoachondroplasia (PSACH) |
Swiss-Prot | VAR_066807 | Disease | p.CYS387ARG | Pseudoachondroplasia (PSACH) |
Swiss-Prot | VAR_007625 | Disease | p.CYS387GLY | Pseudoachondroplasia (PSACH) |
Swiss-Prot | VAR_066798 | Disease | p.CYS348PHE | Multiple epiphyseal dysplasia 1 (EDM1) |
Swiss-Prot | VAR_007622 | Disease | p.CYS371SER | Multiple epiphyseal dysplasia 1 (EDM1) |
Swiss-Prot | VAR_066816 | Disease | p.CYS448SER | Pseudoachondroplasia (PSACH) |
Swiss-Prot | VAR_066800 | Disease | p.CYS371TYR | Multiple epiphyseal dysplasia 1 (EDM1) |
Swiss-Prot | VAR_066811 | Disease | p.CYS410TYR | Multiple epiphyseal dysplasia 1 (EDM1) |
Swiss-Prot | VAR_007632 | Disease | p.CYS468TYR | Pseudoachondroplasia (PSACH) |
dbSNP | rs61752496 | Polymorphism | p.GLN756ARG | N/A |
Swiss-Prot | VAR_016254 | Polymorphism | p.GLU50ASP | N/A |
Swiss-Prot | VAR_007615 | Disease | p.GLY299ARG | Pseudoachondroplasia (PSACH) |
Swiss-Prot | VAR_066810 | Disease | p.GLY404ARG | Multiple epiphyseal dysplasia 1 (EDM1) |
Swiss-Prot | VAR_007629 | Disease | p.GLY440ARG | Pseudoachondroplasia (PSACH) |
Swiss-Prot | VAR_066821 | Disease | p.GLY501ASP | Multiple epiphyseal dysplasia 1 (EDM1) |
Swiss-Prot | VAR_017103 | Disease | p.GLY719ASP | Pseudoachondroplasia (PSACH) |
Swiss-Prot | VAR_066789 | Disease | p.GLY167GLU | Multiple epiphyseal dysplasia 1 (EDM1) |
Swiss-Prot | VAR_066813 | Disease | p.GLY427GLU | Multiple epiphyseal dysplasia 1 (EDM1) |
Swiss-Prot | VAR_007628 | Disease | p.GLY440GLU | Pseudoachondroplasia (PSACH) |
Swiss-Prot | VAR_066828 | Disease | p.GLY719SER | Pseudoachondroplasia (PSACH) |
Swiss-Prot | VAR_016255 | Polymorphism | p.LEU51TRP | N/A |
Swiss-Prot | VAR_026239 | Disease | p.PRO276ARG | Multiple epiphyseal dysplasia 1 (EDM1) |
Swiss-Prot | VAR_066790 | Disease | p.PRO234SER | Pseudoachondroplasia (PSACH) |
Swiss-Prot | VAR_066792 | Disease | p.SER298LEU | Multiple epiphyseal dysplasia 1 (EDM1) |
Swiss-Prot | VAR_007642 | Disease | p.THR585ARG | Pseudoachondroplasia (PSACH) |
Swiss-Prot | VAR_066825 | Disease | p.THR529ILE | Pseudoachondroplasia (PSACH) |
Swiss-Prot | VAR_007641 | Disease | p.THR585MET | Pseudoachondroplasia (PSACH) |
OMIM | 600310.0017 | Disease | p.ARG718TRP | EPIPHYSEAL DYSPLASIA, MULTIPLE, 1 |
OMIM | 600310.0008 | Disease | p.ASN523LYS | EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, MILD |
OMIM | 600310.0009 | Disease | p.ASN453SER | EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE |
OMIM | 600310.0010 | Disease | p.ASP473GLY | PSEUDOACHONDROAPLASIA |
OMIM | 600310.0005 | Disease | p.ASP342TYR | EPIPHYSEAL DYSPLASIA, MULTIPLE, 1, SEVERE |
OMIM | 600310.0001 | Disease | p.ASP472TYR | PSEUDOACHONDROPLASIA |
OMIM | 600310.0006 | Disease | p.CYS328ARG | PSEUDOACHONDROPLASIA |
OMIM | 600310.0014 | Disease | p.CYS348ARG | PSEUDOACHONDROPLASIA |
OMIM | 600310.0002 | Disease | p.CYS468TYR | PSEUDOACHONDROPLASIA |
OMIM | 600310.0013 | Disease | p.GLY719ASP | PSEUDOACHONDROPLASIA, SEVERE |