Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
106726c.5138G>Ap.Ser1713AsnDIVS5-S6MissenseP/O→P/O(46)SMEIFamilial(Paternal,FS),P=3/3Kimura K.2005



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
119c.5138G>Ap.Ser1713Asn(DIVS5-S6)MissenseSMEIFS(Paternal) 23/3Kimura K.2005



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