Table IIIA.

Classification of indeterminate variants: Missense

DesignationGDaOrthologs GVbProtein Domain ConservationcSplicing PredictionsdSegregation AnalysiseOther DescriptionfOther VariantgVariant Scoreh
PKD1
    V466L3232 (L;fr)Lectin (NC)SWA(0.65→0.60)N/ANovel, V466MN−2
    V466M2132Lectin (NC)N/PF2Novel, V466LN4
    V609G10929N/PN/PN/ANovelI3
    V690G10932N/PN/PN/ANovel, V690DiI4
    P829L480N/PN/PN/ANovelB2
    N970K9423PKDIII (NC)N/PN/ANovelI3
    H1093D8183 (Y, fi)PKDIV (HC)N/PN/ANovel, H1093YN4
    R1340W101110PKDVII (NC)N/PN/A1X + 1XiI−1
    S1352N4646 (N;fi)PKDVII (NC)N/PN/ANovelN−4
    R1411C180112PKDVIII (NC)N/PN/ANovelA−1
    R1698W10143PKDXI (NC)N/PN/ANovelC1
    V2267M210REJ (NC)N/PS2NovelA−1
    I2463T890REJ (NC)N/PN/ANovelA1
    L2696P48145REJ (NC)N/PN/ANovelN3
    R3063C180110N/PN/PN/ANovelB1
    R3965S11043N/PN/PN/ANovelC1
    S4144T580GPB (NC)N/PN/ANovelA0
    R4276W10186N/PN/PN/A2X; 1XiC−4
PKD2
    R807Q430ERL (NC)N/PN/A1X; 1XiC2