Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_021000 | Disease | p.ARG286GLN | Osteopetrosis, autosomal dominant 2 (OPTA2) |
Swiss-Prot | VAR_064641 | Disease | p.ARG403GLN | Osteopetrosis, autosomal recessive 4 (OPTB4) |
Swiss-Prot | VAR_064643 | Disease | p.ARG526GLN | Osteopetrosis, autosomal recessive 4 (OPTB4) |
Swiss-Prot | VAR_017838 | Disease | p.ARG762GLN | Osteopetrosis, autosomal recessive 4 (OPTB4) |
Swiss-Prot | VAR_021008 | Disease | p.ARG767GLN | Osteopetrosis, autosomal recessive 4 (OPTB4) |
Swiss-Prot | VAR_064648 | Disease | p.ARG767PRO | Osteopetrosis, autosomal recessive 4 (OPTB4) |
Swiss-Prot | VAR_021004 | Disease | p.ARG526TRP | Osteopetrosis, autosomal recessive 4 (OPTB4) |
Swiss-Prot | VAR_064647 | Disease | p.ARG762TRP | Osteopetrosis, autosomal recessive 4 (OPTB4) |
Swiss-Prot | VAR_017840 | Disease | p.ARG767TRP | Osteopetrosis, autosomal recessive 4 (OPTB4) |
Swiss-Prot | VAR_064638 | Disease | p.ASN214SER | Osteopetrosis, autosomal recessive 4 (OPTB4) |
Swiss-Prot | VAR_020997 | Disease | p.GLY215ARG | Osteopetrosis, autosomal dominant 2 (OPTA2) |
Swiss-Prot | VAR_020998 | Disease | p.GLY240ARG | Osteopetrosis, autosomal recessive 4 (OPTB4) |
Swiss-Prot | VAR_064642 | Disease | p.GLY521ARG | Osteopetrosis, autosomal recessive 4 (OPTB4) |
Swiss-Prot | VAR_021006 | Disease | p.GLY677VAL | Osteopetrosis, autosomal dominant 2 (OPTA2) |
Swiss-Prot | VAR_037427 | Disease | p.ILE261PHE | Osteopetrosis, autosomal recessive 4 (OPTB4) |
Swiss-Prot | VAR_021003 | Disease | p.LEU490PHE | Osteopetrosis, autosomal dominant 2 (OPTA2) |
Swiss-Prot | VAR_064637 | Disease | p.LEU132PRO | Osteopetrosis, autosomal recessive 4 (OPTB4) |
Swiss-Prot | VAR_064644 | Disease | p.LEU549PRO | Osteopetrosis, autosomal recessive 4 (OPTB4) |
Swiss-Prot | VAR_021005 | Disease | p.LEU614PRO | Osteopetrosis, autosomal recessive 4 (OPTB4) |
Swiss-Prot | VAR_064645 | Disease | p.LEU651PRO | Osteopetrosis, autosomal recessive 4 (OPTB4) |
Swiss-Prot | VAR_017839 | Disease | p.LEU766PRO | Osteopetrosis, autosomal recessive 4 (OPTB4) |
Swiss-Prot | VAR_021001 | Disease | p.MET332VAL | Osteopetrosis, autosomal recessive 4 (OPTB4) |
Swiss-Prot | VAR_064640 | Disease | p.PHE318LEU | Osteopetrosis, autosomal dominant 2 (OPTA2) |
Swiss-Prot | VAR_064646 | Disease | p.PHE758LEU | Osteopetrosis, autosomal dominant 2 (OPTA2) |
Swiss-Prot | VAR_020999 | Disease | p.PRO249ARG | Osteopetrosis, autosomal recessive 4 (OPTB4) |
Swiss-Prot | VAR_021007 | Disease | p.SER744PHE | Osteopetrosis, autosomal recessive 4 (OPTB4) |
dbSNP | rs12926089 | Polymorphism | p.VAL418MET | N/A |
OMIM | 602727.0002 | Disease | p.ARG762GLN | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4 |
OMIM | 602727.0004 | Disease | p.ARG767TRP | OSTEOPETROSIS, AUTOSOMAL DOMINANT 2 |
OMIM | 602727.0001 | Disease | p.GLN555TER | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4 |
OMIM | 602727.0006 | Disease | p.ILE261PHE | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4 |
OMIM | 602727.0003 | Disease | p.LEU766PRO | OSTEOPETROSIS, AUTOSOMAL RECESSIVE 4 |