Mutation information:
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NumberExon/IntronNucleotide change Protein changeLocation Mutation typeConsequencesPhenotype InheritanceReference
33310 c.1625G>Ap.Arg542GlnDI-DIIMissenseP/﹢→P/O (43)JME,ASD,GEFS+NAEscayg A.2001
ASDFamilial(Paternal,asympt),P=2/3Weiss LA.2003
GEFS+FamilialOrrico A.2009
GEFS+Familial(Paternal, IGE),P=2/2Combi R.2009
IENAWang JW.2012
SMENALee HF.2014



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Inheritance information:
NumberNucleotide changeProtein changeMutation type Proband's phenotype1st transmitter's phenotype Mosaic Affected generationsPenetranceReference
39c.1625G>Ap.Arg542Gln(DI-DII)MissenseGEFS+IGE(Paternal) 22/2Combi R.2009
GEFS+NA Orrico A.2009



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