Mutation information:
NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
108426c.5225C>Gp.Asp1742GlyDIVS5-S6MissenseP/﹣→N (94)PEFS+Familial(Paternal&Maternal,FS+),P=4/4Pineda-Trujillo N.2005



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
121c.5225C>Gp.Asp1742Gly(DIVS5-S6)MissensePEFS+FS+(Paternal) 34/4Pineda-Trujillo N.2005



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