Table IB.

Details of probable mutations in the CRISP cohort: Highly likely, mutation group B

CRISP IDbncExon/IntronCodonMutation DesignationcDNA ChangeProtein ChangeVariant EffectOtherd Indeterminate VariantsPrevious Description
PKD1
    20000125230C230S688T→AC230SSubstitutionIVS7+3G→TNovel
    24271515259C259Y776G→AC259YSubstitutionP829LNovel
    10500515325Y325C974A→GY325CSubstitutionNovel
    17463215381G381S1141G→AG381SSubstitutionR3063C3X
    24662015381G381S1141G→AG381SSubstitution3X
    30000725381G381S1141G→AG381SSubstitution3X
    11008016432A432V1295C→TA432VSubstitutionNovel
    11089016436C436Y1307G→AC436YSubstitutionNovel
    38604017508C508R1522T→CC508RSubstitution1Xf,g
    24373819605L605R1814T→CL605RSubstitutionNovel
    306546110727L727P2180T→CL727PSubstitutionNovel
    400001211910910delDVV2729_2737del910_912delDeletionNovel
    204555112967W967R2899T→CW967RSubstitution1Xf
    2487121151412Y1412D4234T→GY1412DSubstitutionNovel
    1707951151503G1503R4507G→CG1503RSubstitutionNovel
    1139941151993F1992L: T1993del5976_5978delF1992L:T1993delSubstitution/deletion1Xf
    4014051172370C2370S7110T→AC2370SSubstitutionNovel
    3746871IVS172404IVS17+4del4IVS17+4delAGTGV2356_G2403deleDeletioneNovel
    2000092192516R2516C7546C→TR2516CSubstitution2X
    2959401192516R2516C7546C→TR2516CSubstitution2X
    1087301232771E2771K8311G→AE2771KSubstitution3X + 4Xf
    1360551232771E2771K8311G→AE2771KSubstitution3X + 4Xf
    4075931232771E2771K8311G→AE2771KSubstitution3X + 4Xf
    3279331232809P2809L8426C→TP2809LSubstitutionNovel
    1961641242979F2979del8935_8937delF2979delDeletion1Xf
    1995401253036T3036I9107C→TT3036ISubstitutionNovel
    3346721273168F3168del9502_9504delF3168delDeletionNovel
    1732031273186H3186Y9556C→TH3186YSubstitution2X
    2933171273186H3186Y9556C→TH3186YSubstitution2X
    2362021293287L3287del9859_9861delL3287delDeletionNovel
    2923621393753R3753W11257C→TR3753WSubstitution3Xf
    2716621393753R3753Q11258G→AR3753QSubstitutionNovel
    2000072413834L3834R11501T→GL3834RSubstitutionNovel
    2236351433908L3908R11723T→GL3908RSubstitutionNovel
PKD2
    30069614322R322W964C→TR322WSubstitution1Xf
    12001024325R325Q974G→AR325QSubstitutionNovel
    1465631IVS8633IVS8+5G→AIVS8+5G→AL573fseTruncationeNovel