Table IIB.

Classification of probable pathogenic mutations: Atypical splicing changesa

Mutation DesignationRT-PCR ChangenSplicing PredictionseSegregation AnalysisfPrevious DescriptiongOther Indeterminate VarianthVariant ScoreiMutation Groupj
PKD1
    IVS15-9G→AYNA, IVS15-7 (<0.1i)N/ANovelN27A
    IVS15-10C→AYNA, IVS15-8 (0.98)S2NovelN34A
    IVS17+4del4N/ALD (0.95 to <0.1)F3NovelN16B
    IVS37-10C→AYLA (0.34 to <0.1)FP1XkY21A
    IVS43+14del20YSkipping ex43, small IVS37N/A2XkN26A
PKD2
    IVS4+3delAAGTYLD (0.99 to <0.1)F31XkN25A
    IVS8+5G→AN/AND, IVS8-4 (0.28)N/ANovelN12B