Table IVA.

Classification of newly described likely polymorphic changes: Missense

DesignationGDaOrthologsGVbProtein Domain ConservationcSplicing PredictionsdSegregation AnalysiseOther DescriptionfOther VariantgVariant Scoreh
PKD1
    A140V6464 (V;c,fr)LRR (NC)N/PS2NovelA−9
    H201Q2489WSC (NC)N/PN/ANovelA−9
    R324L102110PKDI (NC)N/PN/A,S22X + 1XjA,B−6
    P556S74110N/PN/PN/ANovelA−7
    R601W101110N/PN/PN/ANovelA−7
    V715F5050 (F;fr)N/PN/PN/ANovelA−11
    P839S7493N/PN/PN/ANovelA−7
    S903G56142 (G;fr)PKDII (NC)N/PN/ANovelA−11
    N1034S4680PKDIV (C)N/PN/A2XA,N−7
    H1093Y8383 (Y;fi)PKDIV (C) (Y,2X)N/PN/ANovel, H1093DA−12
    L1106V32198PKDIV (NC) (V,3X)N/PN/A2X2A−16
    V1339M2184PKDVII (NC)N/PN/A4XA,2B,N−15
    R1351W101125PKDVII (NC)N/PN/ANovelA−7
    A1422T58106 (T;m,c)PKDVIII (NC)N/PN/ANovelA−11
    A1516T5899 (T;fi)PKDIX (NC)N/PN/A2XA,B−14
    H1777P7787PKDXII (NC)N/PN/ANovelA−7
    A1790V64107 (V;m,r,fr)PKDXII (C) (V, 2X)N/PN/ANovelA−13
    E1811D4545 (D;fr,fi)PKDXIII (NC) (D,1X)N/PN/ANovel, E1811KjA−12
    A1871T58126PKDXIII (NC) (A,1X)N/PN/ANovelC−6
    V2153M2132N/PN/PN/ANovelA−7
    R2200C180110REJ (NC)N/PN/A10X + 1Xj4A,4B,2N−29
    V2345A64107REJ (NC)N/PS2NovelA−7
    R2383H29112REJ (NC)N/PNNovelB−27
    R2404W101180REJ (NC)N/PN/ANovelA−7
    R2477C18071REJ (NC)N/PNNovelC−14
    R2515W101110REJ (NC)N/PN/ANovelA−7
    V2628M21124 (M;r)REJ (NC)N/PN/ANovelB−11
    E2742K5698REJ (NC)N/PS2NovelA−5
    W2882R101181N/PN/PN/A5X2A,2B,C−20
    V2897I29121N/PN/PNNovelN−22
    T3207M8158PLAT (NC) (M, PC1L2)N/PN/A2X2A−9
    A3211T58106 (T;r,m)PLAT (NC)N/PN/ANovelC−8
    A3391V6499N/PN/PN/ANovelA−7
    V3409L32121N/PN/PN/A8X4A,B,C,2I,N−29
    P3412S74108N/PN/PN/A2XB,N−5
    G3414S5680 (S;r,m.c)N/PN/PN/ANovelB−9
    S3779R11098N/PN/PN/ANovelA−7
    E3786Q29140 (Q;r,m)N/PN/PN/ANovelA−13
    H3840Q2489PC-B (NC)N/PN/ANovelA−9
    A4098T58113TM (NC)N/PN/ANovelA−7
PKD2
    R119H29125N/PN/PN/ANovelB−7
    V262M2132N/PN/PN/ANovelA−7