Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_021598 | Disease | p.ALA1246GLY | Cornelia de Lange syndrome 1 (CDLS1) |
Swiss-Prot | VAR_021607 | Disease | p.ALA2390THR | Cornelia de Lange syndrome 1 (CDLS1) |
Swiss-Prot | VAR_021603 | Disease | p.ARG2298CYS | Cornelia de Lange syndrome 1 (CDLS1) |
Swiss-Prot | VAR_021604 | Disease | p.ARG2298HIS | Cornelia de Lange syndrome 1 (CDLS1) |
Swiss-Prot | VAR_021600 | Disease | p.ARG1789LEU | Cornelia de Lange syndrome 1 (CDLS1) |
Swiss-Prot | VAR_021602 | Disease | p.ARG1856THR | Cornelia de Lange syndrome 1 (CDLS1) |
Swiss-Prot | VAR_038412 | Polymorphism | p.ASN384SER | N/A |
dbSNP | rs3822471 | Polymorphism | p.ASN674SER | N/A |
Swiss-Prot | VAR_021601 | Disease | p.ASP1803VAL | Cornelia de Lange syndrome 1 (CDLS1) |
Swiss-Prot | VAR_019519 | Disease | p.CYS1311ARG | Cornelia de Lange syndrome 1 (CDLS1) |
Swiss-Prot | VAR_036164 | Polymorphism | p.GLU1647LYS | N/A |
Swiss-Prot | VAR_064545 | Disease | p.GLY2081ALA | Cornelia de Lange syndrome 1 (CDLS1) |
Swiss-Prot | VAR_021606 | Disease | p.GLY2381ALA | Cornelia de Lange syndrome 1 (CDLS1) |
Swiss-Prot | VAR_021605 | Disease | p.GLY2312ARG | Cornelia de Lange syndrome 1 (CDLS1) |
Swiss-Prot | VAR_021597 | Polymorphism | p.ILE1206VAL | N/A |
Swiss-Prot | VAR_019520 | Disease | p.LEU1348ARG | Cornelia de Lange syndrome 1 (CDLS1) |
Swiss-Prot | VAR_021599 | Disease | p.LEU1312PRO | Cornelia de Lange syndrome 1 (CDLS1) |
Swiss-Prot | VAR_064547 | Disease | p.LEU2150PRO | Cornelia de Lange syndrome 1 (CDLS1) |
dbSNP | rs16903425 | Polymorphism | p.SER261ALA | N/A |
Swiss-Prot | VAR_019518 | Polymorphism | p.SER135ASN | N/A |
Swiss-Prot | VAR_064546 | Disease | p.SER2090ILE | Cornelia de Lange syndrome 1 (CDLS1) |
Swiss-Prot | VAR_019521 | Disease | p.TYR2430CYS | Cornelia de Lange syndrome 1 (CDLS1) |
Swiss-Prot | VAR_021608 | Disease | p.TYR2440HIS | Cornelia de Lange syndrome 1 (CDLS1) |
OMIM | 608667.0009 | Disease | p.ALA1246GLY | CORNELIA DE LANGE SYNDROME 1 |
OMIM | 608667.0012 | Disease | p.ARG1536TER | CORNELIA DE LANGE SYNDROME 1 |
OMIM | 608667.0008 | Disease | p.ARG1723TER | CORNELIA DE LANGE SYNDROME 1 |
OMIM | 608667.0001 | Disease | p.MET1LYS | CORNELIA DE LANGE SYNDROME 1 |
OMIM | 608667.0002 | Disease | p.TYR2430CYS | CORNELIA DE LANGE SYNDROME 1 |