Source ↕ | Mut_ID ↕ | Class ↕ | HGVS ↕ | Disease ↕ |
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Swiss-Prot | VAR_065116 | Disease | p.ALA475ASP | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) |
Swiss-Prot | VAR_065108 | Disease | p.ALA362PRO | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) |
Swiss-Prot | VAR_065114 | Disease | p.ALA460PRO | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) |
Swiss-Prot | VAR_023662 | Disease | p.ALA475PRO | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) |
Swiss-Prot | VAR_065104 | Disease | p.ALA318THR | Mitochondrial DNA depletion syndrome 7 (MTDPS7) |
Swiss-Prot | VAR_023654 | Disease | p.ALA359THR | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) |
Swiss-Prot | VAR_065102 | Disease | p.ARG303GLN | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) |
Swiss-Prot | VAR_023651 | Polymorphism | p.ARG334GLN | N/A |
Swiss-Prot | VAR_023659 | Disease | p.ARG374GLN | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) |
Swiss-Prot | VAR_065105 | Disease | p.ARG334PRO | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) |
Swiss-Prot | VAR_023653 | Disease | p.ARG354PRO | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) |
Swiss-Prot | VAR_065106 | Disease | p.ARG357PRO | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) |
Swiss-Prot | VAR_023647 | Disease | p.ARG303TRP | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) |
Swiss-Prot | VAR_062269 | Polymorphism | p.ASN634LYS | N/A |
Swiss-Prot | VAR_065113 | Disease | p.GLN458HIS | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) |
Swiss-Prot | VAR_051267 | Polymorphism | p.GLU427GLY | N/A |
Swiss-Prot | VAR_065118 | Disease | p.GLU479LYS | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) |
Swiss-Prot | VAR_062268 | Polymorphism | p.GLY348ARG | N/A |
Swiss-Prot | VAR_023655 | Disease | p.ILE367THR | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) |
Swiss-Prot | VAR_065107 | Disease | p.LEU360GLY | Mitochondrial DNA depletion syndrome 7 (MTDPS7) |
Swiss-Prot | VAR_023660 | Disease | p.LEU381PRO | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) |
Swiss-Prot | VAR_067722 | Disease | p.LEU456VAL | Mitochondrial DNA depletion syndrome 7 (MTDPS7) |
Swiss-Prot | VAR_023649 | Disease | p.LYS319GLU | Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) |
Swiss-Prot | VAR_023650 | Disease | p.LYS319THR | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) |
Swiss-Prot | VAR_065110 | Disease | p.PHE370CYS | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) |
Swiss-Prot | VAR_065117 | Disease | p.PHE478ILE | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) |
Swiss-Prot | VAR_065111 | Disease | p.PHE370LEU | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) |
Swiss-Prot | VAR_023652 | Disease | p.PRO335LEU | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) |
Swiss-Prot | VAR_065112 | Disease | p.SER426ASN | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) |
Swiss-Prot | VAR_023657 | Disease | p.SER369PRO | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) |
Swiss-Prot | VAR_023658 | Disease | p.SER369TYR | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) |
Swiss-Prot | VAR_039045 | Disease | p.THR457ILE | Mitochondrial DNA depletion syndrome 7 (MTDPS7) |
Swiss-Prot | VAR_023661 | Disease | p.TRP474CYS | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) |
Swiss-Prot | VAR_023648 | Disease | p.TRP315LEU | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) |
Swiss-Prot | VAR_065109 | Disease | p.TRP363LEU | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) |
Swiss-Prot | VAR_065103 | Disease | p.TRP315SER | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) |
Swiss-Prot | VAR_065115 | Disease | p.TRP474SER | Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 3 (PEOA3) |
Swiss-Prot | VAR_043797 | Disease | p.TYR508CYS | Mitochondrial DNA depletion syndrome 7 (MTDPS7) |
dbSNP | rs17113613 | Polymorphism | p.VAL368ILE | N/A |
OMIM | 606075.0002 | Disease | p.ALA475PRO | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 3 |
OMIM | 606075.0015 | Disease | p.ALA318THR | MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) |
OMIM | 606075.0003 | Disease | p.ALA359THR | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 3 |
OMIM | 606075.0013 | Disease | p.ARG303GLN | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 3 |
OMIM | 606075.0008 | Disease | p.ARG334GLN | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||DIGENIC |
OMIM | 606075.0006 | Disease | p.ARG354PRO | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 3 |
OMIM | 606075.0014 | Disease | p.ARG374TRP | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 3 |
OMIM | 606075.0007 | Disease | p.LEU381PRO | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 3 |
OMIM | 606075.0010 | Disease | p.LYS319GLU | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 3 |
OMIM | 606075.0009 | Disease | p.SER369TYR | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 3 |
OMIM | 606075.0011 | Disease | p.THR457ILE | MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) |
OMIM | 606075.0004 | Disease | p.TRP474CYS | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 3 |
OMIM | 606075.0005 | Disease | p.TRP315LEU | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS,||AUTOSOMAL DOMINANT, 3 |
OMIM | 606075.0012 | Disease | p.TYR508C | MITOCHONDRIAL DNA DEPLETION SYNDROME 7 (HEPATOCEREBRAL TYPE) |