Mutation information:
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NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
102726 c.5003C>G p.Pro1668Arg DIVS4-S5 Missense N→P/﹢(103)SME Familial(Maternal, mosaic, FS),P=1/1 Huang AY.2014



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
113c.5003C>Gp.Pro1668Arg(DIVS4-S5)MissenseSMEFS(Maternal)Mosaic(~27%)21/1Huang AY.2014



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