Mutation information:
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NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
109526c.5286A>C p.Gly1762Gly DIVS6 SynonymousNDPEFS+ Familial(Paternal,FS),P=2/2 Herini ES.2010



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
123c.5286A>Cp.Gly1762Gly(DIVS6)Silent mutationPEFS+FS(Paternal) 22/2Herini ES.2010



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