Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_011509 | Disease | p.ALA766PRO | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) |
Swiss-Prot | VAR_011499 | Disease | p.ALA603THR | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) |
Swiss-Prot | VAR_011506 | Disease | p.ALA585VAL | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) |
Swiss-Prot | VAR_022581 | Disease | p.ARG840GLN | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) |
dbSNP | rs17123590 | Polymorphism | p.ARG54PRO | N/A |
Swiss-Prot | VAR_011503 | Disease | p.ASP817GLY | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) |
Swiss-Prot | VAR_011500 | Disease | p.GLY663SER | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) |
Swiss-Prot | VAR_011510 | Disease | p.HIS814ARG | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) |
Swiss-Prot | VAR_022580 | Disease | p.LEU664PRO | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) |
Swiss-Prot | VAR_022579 | Disease | p.SER270PRO | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) |
Swiss-Prot | VAR_011507 | Disease | p.VAL606ALA | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) |
Swiss-Prot | VAR_011508 | Disease | p.VAL699GLY | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) |
Swiss-Prot | VAR_011501 | Disease | p.VAL726GLY | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) |
Swiss-Prot | VAR_011504 | Disease | p.VAL818MET | Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (ICF1) |
OMIM | 602900.0008 | Disease | p.ALA603THR | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1 |
OMIM | 602900.0012 | Disease | p.ARG832GLN | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1 |
OMIM | 602900.0001 | Disease | p.ASP809GLY | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1 |
OMIM | 602900.0011 | Disease | p.GLN42TER | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1 |
OMIM | 602900.0004 | Disease | p.GLY655SER | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1 |
OMIM | 602900.0005 | Disease | p.LEU656THR | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1 |
OMIM | 602900.0013 | Disease | p.SER282PRO | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1 |
OMIM | 602900.0003 | Disease | p.VAL718GLY | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1 |
OMIM | 602900.0010 | Disease | p.VAL726GLY | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1 |
OMIM | 602900.0002 | Disease | p.VAL810MET | IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME||1 |