Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
---|
Swiss-Prot | VAR_021622 | Disease | p.ALA53PRO | Thyroid dyshormonogenesis 2A (TDH2A) |
dbSNP | rs4927611 | Polymorphism | p.ALA257SER | N/A |
dbSNP | rs2280132 | Polymorphism | p.ALA373SER | N/A |
Swiss-Prot | VAR_021625 | Disease | p.ALA326THR | Thyroid dyshormonogenesis 2A (TDH2A) |
Swiss-Prot | VAR_013138 | Disease | p.ARG648GLN | Thyroid dyshormonogenesis 2A (TDH2A) |
Swiss-Prot | VAR_021628 | Disease | p.ARG491HIS | Thyroid dyshormonogenesis 2A (TDH2A) |
Swiss-Prot | VAR_021633 | Disease | p.ARG665TRP | Thyroid dyshormonogenesis 2A (TDH2A) |
Swiss-Prot | VAR_021634 | Disease | p.ARG693TRP | Thyroid dyshormonogenesis 2A (TDH2A) |
Swiss-Prot | VAR_027236 | Polymorphism | p.ARG846TRP | N/A |
Swiss-Prot | VAR_021624 | Disease | p.ASN307THR | Thyroid dyshormonogenesis 2A (TDH2A) |
Swiss-Prot | VAR_021623 | Disease | p.ASP240ASN | Thyroid dyshormonogenesis 2A (TDH2A) |
dbSNP | rs1126797 | Polymorphism | p.ASP666GLU | N/A |
Swiss-Prot | VAR_021636 | Disease | p.ASP796TYR | Thyroid dyshormonogenesis 2A (TDH2A) |
Swiss-Prot | VAR_021637 | Disease | p.CYS808ARG | Thyroid dyshormonogenesis 2A (TDH2A) |
Swiss-Prot | VAR_021632 | Disease | p.GLN660GLU | Thyroid dyshormonogenesis 2A (TDH2A) |
Swiss-Prot | VAR_025784 | Disease | p.GLU378LYS | Thyroid dyshormonogenesis 2A (TDH2A) |
Swiss-Prot | VAR_006062 | Disease | p.GLU799LYS | Thyroid dyshormonogenesis 2A (TDH2A) |
Swiss-Prot | VAR_021635 | Disease | p.GLY771ARG | Thyroid dyshormonogenesis 2A (TDH2A) |
Swiss-Prot | VAR_027229 | Disease | p.GLY533CYS | Thyroid dyshormonogenesis 2A (TDH2A) |
Swiss-Prot | VAR_021629 | Disease | p.GLY493SER | Thyroid dyshormonogenesis 2A (TDH2A) |
Swiss-Prot | VAR_027231 | Disease | p.GLY590SER | Thyroid dyshormonogenesis 2A (TDH2A) |
Swiss-Prot | VAR_015375 | Disease | p.ILE447PHE | Thyroid dyshormonogenesis 2A (TDH2A) |
dbSNP | rs114796303 | Polymorphism | p.LEU529PHE | N/A |
Swiss-Prot | VAR_021627 | Disease | p.LEU458PRO | Thyroid dyshormonogenesis 2A (TDH2A) |
dbSNP | rs28991293 | Polymorphism | p.LEU793PRO | N/A |
dbSNP | rs13431173 | Polymorphism | p.MET706VAL | N/A |
Swiss-Prot | VAR_021630 | Disease | p.PRO499LEU | Thyroid dyshormonogenesis 2A (TDH2A) |
dbSNP | rs2175977 | Polymorphism | p.SER398THR | N/A |
dbSNP | rs732609 | Polymorphism | p.THR725PRO | N/A |
Swiss-Prot | VAR_021631 | Disease | p.TRP527CYS | Thyroid dyshormonogenesis 2A (TDH2A) |
Swiss-Prot | VAR_006060 | Disease | p.TYR453ASP | Thyroid dyshormonogenesis 2A (TDH2A) |
dbSNP | rs1126799 | Polymorphism | p.VAL847ALA | N/A |
Swiss-Prot | VAR_027235 | Disease | p.VAL839ILE | Thyroid dyshormonogenesis 2A (TDH2A) |
Swiss-Prot | VAR_021626 | Disease | p.VAL433MET | Thyroid dyshormonogenesis 2A (TDH2A) |
dbSNP | rs10189135 | Polymorphism | p.VAL618MET | N/A |
OMIM | 606765.0009 | Disease | p.ARG648GLN | THYROID DYSHORMONOGENESIS 2A |
OMIM | 606765.0003 | Disease | p.ARG540TER | THYROID DYSHORMONOGENESIS 2A |
OMIM | 606765.0012 | Disease | p.ARG693TRP | THYROID DYSHORMONOGENESIS 2A |
OMIM | 606765.0014 | Disease | p.GLN660GLU | THYROID DYSHORMONOGENESIS 2A |
OMIM | 606765.0007 | Disease | p.GLU799LYS | THYROID DYSHORMONOGENESIS 2A |
OMIM | 606765.0006 | Disease | p.GLY590SER | THYROID DYSHORMONOGENESIS 2A |
OMIM | 606765.0004 | Disease | p.ILE447PHE | THYROID DYSHORMONOGENESIS 2A |
OMIM | 606765.0005 | Disease | p.TYR453ASP | THYROID DYSHORMONOGENESIS 2A |