Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
dbSNP | rs17080261 | Polymorphism | p.ALA1864THR | N/A |
Swiss-Prot | VAR_011172 | Disease | p.ARG2008CYS | Epidermolysis bullosa dystrophica, Hallopeau-Siemens type (HS-DEB) |
Swiss-Prot | VAR_064996 | Disease | p.ARG2069CYS | Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) |
Swiss-Prot | VAR_001816 | Disease | p.ARG2008GLY | Epidermolysis bullosa dystrophica, Hallopeau-Siemens type (HS-DEB) |
Swiss-Prot | VAR_048766 | Polymorphism | p.ARG1120LYS | N/A |
Swiss-Prot | VAR_035742 | Polymorphism | p.ARG1366TRP | N/A |
Swiss-Prot | VAR_011166 | Disease | p.ARG1772TRP | Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) |
Swiss-Prot | VAR_001823 | Disease | p.ARG2063TRP | Epidermolysis bullosa dystrophica, Hallopeau-Siemens type (HS-DEB) |
Swiss-Prot | VAR_065001 | Disease | p.ARG2622TRP | Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) |
Swiss-Prot | VAR_011201 | Disease | p.ARG2791TRP | Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) |
Swiss-Prot | VAR_011170 | Disease | p.GLY2006ALA | Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) |
Swiss-Prot | VAR_001817 | Disease | p.GLY2025ALA | Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) |
Swiss-Prot | VAR_011175 | Disease | p.GLY2028ALA | Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) |
Swiss-Prot | VAR_064998 | Polymorphism | p.GLY2221ALA | N/A |
Swiss-Prot | VAR_011199 | Disease | p.GLY2740ALA | Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) |
Swiss-Prot | VAR_011160 | Disease | p.GLY1347ARG | Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) |
Swiss-Prot | VAR_001812 | Disease | p.GLY1557ARG | Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) |
Swiss-Prot | VAR_015519 | Disease | p.GLY1595ARG | Nail disorder, non-syndromic congenital, 8 (NDNC8) |
Swiss-Prot | VAR_011163 | Disease | p.GLY1604ARG | Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) |
Swiss-Prot | VAR_011164 | Disease | p.GLY1652ARG | Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) |
Swiss-Prot | VAR_011167 | Disease | p.GLY1776ARG | Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) |
Swiss-Prot | VAR_001813 | Disease | p.GLY1782ARG | Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) |
Swiss-Prot | VAR_011169 | Disease | p.GLY1812ARG | Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) |
Swiss-Prot | VAR_015520 | Disease | p.GLY1815ARG | Nail disorder, non-syndromic congenital, 8 (NDNC8) |
Swiss-Prot | VAR_064994 | Disease | p.GLY1845ARG | Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) |
Swiss-Prot | VAR_001815 | Disease | p.GLY2003ARG | Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) |
Swiss-Prot | VAR_011173 | Disease | p.GLY2009ARG | Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) |
Swiss-Prot | VAR_011176 | Disease | p.GLY2028ARG | Epidermolysis bullosa pruriginosa (EBP) |
Swiss-Prot | VAR_001818 | Disease | p.GLY2034ARG | Epidermolysis bullosa dystrophica, with subcorneal cleavage (EBDSC) |
Swiss-Prot | VAR_001820 | Disease | p.GLY2043ARG | Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) |
Swiss-Prot | VAR_011184 | Disease | p.GLY2064ARG | Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) |
Swiss-Prot | VAR_064997 | Disease | p.GLY2070ARG | Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) |
Swiss-Prot | VAR_011185 | Disease | p.GLY2079ARG | Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) |
Swiss-Prot | VAR_011188 | Disease | p.GLY2207ARG | Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) |
Swiss-Prot | VAR_001828 | Disease | p.GLY2242ARG | Epidermolysis bullosa pruriginosa (EBP) |
Swiss-Prot | VAR_011191 | Polymorphism | p.GLY2287ARG | N/A |
Swiss-Prot | VAR_011192 | Polymorphism | p.GLY2316ARG | N/A |
Swiss-Prot | VAR_011193 | Polymorphism | p.GLY2348ARG | N/A |
Swiss-Prot | VAR_001829 | Polymorphism | p.GLY2351ARG | N/A |
Swiss-Prot | VAR_065000 | Disease | p.GLY2557ARG | Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) |
Swiss-Prot | VAR_001830 | Disease | p.GLY2569ARG | Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) |
Swiss-Prot | VAR_001831 | Disease | p.GLY2575ARG | Epidermolysis bullosa dystrophica, Hallopeau-Siemens type (HS-DEB) |
Swiss-Prot | VAR_001833 | Disease | p.GLY2653ARG | Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) |
Swiss-Prot | VAR_001835 | Disease | p.GLY2674ARG | Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) |
Swiss-Prot | VAR_011198 | Disease | p.GLY2713ARG | Epidermolysis bullosa pruriginosa (EBP) |
Swiss-Prot | VAR_001836 | Disease | p.GLY2749ARG | Epidermolysis bullosa dystrophica, Hallopeau-Siemens type (HS-DEB) |
Swiss-Prot | VAR_011161 | Disease | p.GLY1519ASP | Transient bullous dermolysis of the newborn (TBDN) |
Swiss-Prot | VAR_011171 | Disease | p.GLY2006ASP | Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) |
Swiss-Prot | VAR_011180 | Disease | p.GLY2040ASP | Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) |
Swiss-Prot | VAR_001825 | Disease | p.GLY2073ASP | Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) |
Swiss-Prot | VAR_001826 | Disease | p.GLY2076ASP | Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) |
Swiss-Prot | VAR_011186 | Disease | p.GLY2132ASP | Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) |
Swiss-Prot | VAR_011196 | Disease | p.GLY2674ASP | Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) |
Swiss-Prot | VAR_011197 | Disease | p.GLY2713ASP | Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) |
Swiss-Prot | VAR_001832 | Disease | p.GLY2623CYS | Epidermolysis bullosa dystrophica, pretibial type (PR-DEB) |
Swiss-Prot | VAR_011162 | Disease | p.GLY1522GLU | Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) |
Swiss-Prot | VAR_011165 | Disease | p.GLY1703GLU | Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) |
Swiss-Prot | VAR_011168 | Disease | p.GLY1791GLU | Epidermolysis bullosa pruriginosa (EBP) |
Swiss-Prot | VAR_011174 | Disease | p.GLY2015GLU | Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) |
Swiss-Prot | VAR_011179 | Disease | p.GLY2037GLU | Epidermolysis bullosa dystrophica, Pasini type (P-DEB) |
Swiss-Prot | VAR_001821 | Disease | p.GLY2049GLU | Epidermolysis bullosa dystrophica, Hallopeau-Siemens type (HS-DEB) |
Swiss-Prot | VAR_001822 | Disease | p.GLY2055GLU | Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) |
Swiss-Prot | VAR_001827 | Disease | p.GLY2079GLU | Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) |
Swiss-Prot | VAR_011189 | Disease | p.GLY2251GLU | Transient bullous dermolysis of the newborn (TBDN) |
Swiss-Prot | VAR_064999 | Disease | p.GLY2296GLU | Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) |
Swiss-Prot | VAR_011177 | Disease | p.GLY2031SER | Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) |
Swiss-Prot | VAR_001819 | Disease | p.GLY2040SER | Epidermolysis bullosa dystrophica, Pasini type (P-DEB) |
Swiss-Prot | VAR_011187 | Disease | p.GLY2192SER | Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) |
Swiss-Prot | VAR_011194 | Disease | p.GLY2366SER | Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) |
Swiss-Prot | VAR_011195 | Disease | p.GLY2369SER | Epidermolysis bullosa pruriginosa (EBP) |
Swiss-Prot | VAR_011200 | Disease | p.GLY2775SER | Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) |
Swiss-Prot | VAR_001814 | Disease | p.GLY1982TRP | Epidermolysis bullosa dystrophica, Hallopeau-Siemens type (HS-DEB) |
Swiss-Prot | VAR_011178 | Disease | p.GLY2034TRP | Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) |
Swiss-Prot | VAR_011182 | Disease | p.GLY2043TRP | Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) |
Swiss-Prot | VAR_011181 | Disease | p.GLY2040VAL | Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) |
Swiss-Prot | VAR_011183 | Disease | p.GLY2046VAL | Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) |
Swiss-Prot | VAR_011190 | Disease | p.GLY2263VAL | Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) |
Swiss-Prot | VAR_001834 | Disease | p.GLY2671VAL | Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) |
Swiss-Prot | VAR_001809 | Disease | p.LYS142ARG | Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) |
Swiss-Prot | VAR_064995 | Disease | p.LYS1981ARG | Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) |
Swiss-Prot | VAR_001837 | Disease | p.MET2798LYS | Epidermolysis bullosa dystrophica, Hallopeau-Siemens type (HS-DEB) |
Swiss-Prot | VAR_001811 | Disease | p.PRO1277LEU | Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) |
Swiss-Prot | VAR_033786 | Polymorphism | p.PRO2429LEU | N/A |
dbSNP | rs2228561 | Disease | p.PRO595LEU | Epidermolysis bullosa dystrophica, autosomal recessive (RDEB) |
Swiss-Prot | VAR_035741 | Polymorphism | p.PRO1364THR | N/A |
dbSNP | rs74453879 | Polymorphism | p.THR30ILE | N/A |
Swiss-Prot | VAR_035740 | Polymorphism | p.THR119PRO | N/A |
Swiss-Prot | VAR_048765 | Polymorphism | p.VAL547PHE | N/A |
OMIM | 120120.0041 | Disease | p.ARG2069CYS | EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE |
OMIM | 120120.0040 | Disease | p.ARG109TER | EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE||EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, |
OMIM | 120120.0032 | Disease | p.ARG1630TER | EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL RECESSIVE |
OMIM | 120120.0037 | Disease | p.ARG2471TER | EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE |
OMIM | 120120.0034 | Disease | p.ARG2063TRP | EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE |
OMIM | 120120.0043 | Disease | p.GLN2827TER | EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE |
OMIM | 120120.0011 | Disease | p.GLY1347ARG | EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA||VARIANT |
OMIM | 120120.0024 | Disease | p.GLY1595ARG | EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE||NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8, INCLUDED |
OMIM | 120120.0025 | Disease | p.GLY1815ARG | EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE||NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8, INCLUDED |
OMIM | 120120.0008 | Disease | p.GLY2003ARG | EPIDERMOLYSIS BULLOSA DYSTROPHICA, BART TYPE |
OMIM | 120120.0028 | Disease | p.GLY2034ARG | EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT |
OMIM | 120120.0016 | Disease | p.GLY2043ARG | EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT |
OMIM | 120120.0017 | Disease | p.GLY2242ARG | EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT |
OMIM | 120120.0023 | Disease | p.GLY2287ARG | EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE||NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8, INCLUDED |
OMIM | 120120.0042 | Disease | p.GLY2316ARG | EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE |
OMIM | 120120.0036 | Disease | p.GLY2653ARG | EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE |
OMIM | 120120.0038 | Disease | p.GLY2749ARG | EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE |
OMIM | 120120.0015 | Disease | p.GLY1519ASP | TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN |
OMIM | 120120.0026 | Disease | p.GLY2006ASP | EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT |
OMIM | 120120.0035 | Disease | p.GLY2076ASP | EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT |
OMIM | 120120.0007 | Disease | p.GLY2623CYS | EPIDERMOLYSIS BULLOSA, PRETIBIAL |
OMIM | 120120.0044 | Disease | p.GLY1522GLU | TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN |
OMIM | 120120.0027 | Disease | p.GLY2015GLU | EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT |
OMIM | 120120.0031 | Disease | p.GLY2037GLU | EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT |
OMIM | 120120.0014 | Disease | p.GLY2251GLU | TRANSIENT BULLOUS DERMOLYSIS OF THE NEWBORN||NAIL DISORDER, NONSYNDROMIC CONGENITAL, 8, INCLUDED;;||EPIDERMOLYSIS BULLOS |
OMIM | 120120.0022 | Disease | p.GLY2031SER | EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE |
OMIM | 120120.0002 | Disease | p.GLY2040SER | EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL DOMINANT |
OMIM | 120120.0033 | Disease | p.GLY2073VAL | EPIDERMOLYSIS BULLOSA PRURIGINOSA, AUTOSOMAL DOMINANT |
OMIM | 120120.0045 | Disease | p.LYS142ARG | EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE |
OMIM | 120120.0001 | Disease | p.MET2798LYS | EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE |
OMIM | 120120.0029 | Disease | p.PRO1699LEU | EPIDERMOLYSIS BULLOSA, PRETIBIAL, AUTOSOMAL RECESSIVE |
OMIM | 120120.0005 | Disease | p.TYR311TER | EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE |