Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_008079 | Disease | p.ALA331GLU | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_046929 | Disease | p.ALA231PRO | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_046932 | Disease | p.ALA288PRO | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_021800 | Disease | p.ALA355PRO | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_046922 | Polymorphism | p.ALA69PRO | N/A |
Swiss-Prot | VAR_066103 | Disease | p.ALA446SER | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008065 | Disease | p.ALA155THR | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008070 | Disease | p.ALA226THR | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_046933 | Disease | p.ALA288THR | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_046934 | Disease | p.ALA361THR | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_002174 | Disease | p.ALA114VAL | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_046925 | Disease | p.ALA155VAL | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_002187 | Disease | p.ALA331VAL | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008054 | Disease | p.ARG121CYS | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_046921 | Polymorphism | p.ARG18CYS | N/A |
Swiss-Prot | VAR_002188 | Disease | p.ARG336CYS | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008084 | Disease | p.ARG369CYS | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008092 | Disease | p.ARG491CYS | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_002175 | Disease | p.ARG125GLN | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_021801 | Disease | p.ARG379GLN | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008090 | Disease | p.ARG439GLN | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_046938 | Polymorphism | p.ARG548GLN | N/A |
Swiss-Prot | VAR_008073 | Disease | p.ARG266GLY | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008055 | Disease | p.ARG121HIS | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_002181 | Disease | p.ARG224HIS | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008080 | Disease | p.ARG336HIS | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_002189 | Disease | p.ARG369HIS | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008056 | Disease | p.ARG121LEU | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008074 | Disease | p.ARG266LYS | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_046923 | Disease | p.ARG125PRO | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008057 | Disease | p.ARG125TRP | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_046936 | Disease | p.ARG379TRP | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008050 | Disease | p.ARG58TRP | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_021794 | Disease | p.ASN228LYS | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_046928 | Disease | p.ASN228SER | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008071 | Disease | p.ASP234ASN | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_066101 | Disease | p.ASP281ASN | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_046935 | Disease | p.ASP376ASN | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_002192 | Disease | p.ASP444ASN | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008069 | Disease | p.ASP198VAL | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_066102 | Disease | p.ASP321VAL | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_021792 | Disease | p.CYS109ARG | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_002179 | Disease | p.CYS165TYR | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_021796 | Disease | p.CYS275TYR | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008085 | Disease | p.CYS370TYR | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_046937 | Disease | p.GLN526LYS | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008059 | Disease | p.GLU128ASP | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_002176 | Disease | p.GLU131ASP | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_002177 | Disease | p.GLU144LYS | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008066 | Disease | p.GLU176LYS | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_002182 | Disease | p.GLU239LYS | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008076 | Disease | p.GLU302LYS | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008053 | Disease | p.GLY116ARG | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008060 | Disease | p.GLY139ARG | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008061 | Disease | p.GLY148ARG | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008062 | Disease | p.GLY151ARG | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008077 | Disease | p.GLY305ARG | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008051 | Disease | p.GLY85ARG | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_002186 | Disease | p.GLY307SER | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_021798 | Disease | p.GLY347SER | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_021790 | Disease | p.HIS65ARG | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_021793 | Disease | p.ILE143MET | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008064 | Disease | p.ILE152MET | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_066100 | Disease | p.ILE278SER | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_002184 | Disease | p.ILE278THR | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008089 | Disease | p.ILE435THR | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_046924 | Disease | p.LEU154GLN | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_021791 | Disease | p.LEU101PRO | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_021797 | Disease | p.LEU338PRO | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_021803 | Disease | p.LEU456PRO | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_002194 | Disease | p.LEU539SER | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_002173 | Disease | p.LYS102ASN | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008086 | Disease | p.LYS384ASN | Cystathionine beta-synthase deficiency (CBSD) |
dbSNP | rs34040148 | Disease | p.LYS102GLN | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_002191 | Disease | p.LYS384GLU | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008087 | Disease | p.MET391ILE | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008058 | Disease | p.MET126VAL | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_046927 | Disease | p.MET173VAL | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_002171 | Disease | p.PRO78ARG | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_002178 | Disease | p.PRO145LEU | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_066099 | Disease | p.PRO200LEU | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_002185 | Disease | p.PRO290LEU | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_021802 | Disease | p.PRO422LEU | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008049 | Disease | p.PRO49LEU | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_002172 | Disease | p.PRO88SER | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_021799 | Disease | p.SER349ASN | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008081 | Disease | p.SER352ASN | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008091 | Disease | p.SER466LEU | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_021795 | Disease | p.THR262ARG | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008088 | Disease | p.THR434ASN | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008068 | Disease | p.THR191MET | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_002183 | Disease | p.THR257MET | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008072 | Disease | p.THR262MET | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008082 | Disease | p.THR353MET | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_046926 | Disease | p.VAL168ALA | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008067 | Disease | p.VAL180ALA | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008078 | Disease | p.VAL320ALA | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008093 | Disease | p.VAL534ASP | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_002193 | Disease | p.VAL454GLU | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_002180 | Disease | p.VAL168MET | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_008083 | Disease | p.VAL354MET | Cystathionine beta-synthase deficiency (CBSD) |
Swiss-Prot | VAR_002190 | Disease | p.VAL371MET | Cystathionine beta-synthase deficiency (CBSD) |
OMIM | 613381.0003 | Disease | p.ALA114VAL | HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE |
OMIM | 613381.0009 | Disease | p.ARG266LYS | HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE |
OMIM | 613381.0010 | Disease | p.ASP444ASN | HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, INCLUDED |
OMIM | 613381.0006 | Disease | p.GLU144LYS | HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE |
OMIM | 613381.0005 | Disease | p.GLY139ARG | HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE |
OMIM | 613381.0001 | Disease | p.GLY307SER | HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, INCLUDED |
OMIM | 613381.0004 | Disease | p.ILE278THR | HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE||HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED, INCLUDED |
OMIM | 613381.0008 | Disease | p.LEU539SER | HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE |
OMIM | 613381.0007 | Disease | p.LYS384GLU | HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE |
OMIM | 613381.0002 | Disease | p.PRO145LEU | HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE |
OMIM | 613381.0013 | Disease | p.PRO422LEU | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
OMIM | 613381.0014 | Disease | p.SER466LEU | HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED |
OMIM | 613381.0016 | Disease | p.THR191MET | HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE |
OMIM | 613381.0015 | Disease | p.THR353MET | HOMOCYSTINURIA, PYRIDOXINE-NONRESPONSIVE |
OMIM | 613381.0011 | Disease | p.VAL168MET | HOMOCYSTINURIA, PYRIDOXINE-RESPONSIVE |