Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
108126c.5216C>Tp.Pro1739LeuDIVS5-S6MissenseN→N (98)GEFS+,FS+Familial(Paternal);NAZuberi SM.2011



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
120c.5216C>Tp.Pro1739Leu(DIVS5-S6)MissenseGEFS+NA (Paternal) Zuberi SM.2011



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