Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
78121c.4144G>Cp.Gly1382ArgDIIIS5-S6MissenseN→P/﹢ (125)PEFS+Familial(Maternal,FS),P=4/5Xu XJ.2012a



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
80c.4144G>Cp.Gly1382Arg(DIIIS5-S6)MissensePEFS+FS(Maternal) 34/5Xu XJ.2012a



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