Table IA.

Details of probable mutations in the CRISP cohort: Definite, mutation group Aa

CRISP IDbNcExon/IntronCodonMutation DesignationcDNA ChangeProtein ChangeVariant EffectOtherd Indeterminate VariantsPrevious Description
PKD1
    201800111029del1829_46delA10-L15delDeletionNovel
    159106113399delC99delCC33fsX72TruncationNovel
    3252901155165del7165_171delG55fsX70TruncationNovel
    29851514128383del4383_386delE128fsX273TruncationNovel
    45905114138R138X412C→TR138XTruncationNovel
    2716841IVS4177IVS4+1G→AIVS4+1G→AN121fseTruncationeNovel
    22353415211632dup4628_631dup211fsX659Truncation2X
    46548515211632dup4628_631dup211fsX659Truncation2X
    23217415227Q227X679C→TQ227XTruncation1Xf
    12495215351Q351X1051C→TQ351XTruncationNovel
    271460153691105delAG1105_1106delS369fsX369TruncationNovel
    126133164501350delC1350delCP450fsX464TruncationNovel
    29359817467W467X1401G→AW467XTruncationNovel
    400002275041510dup191492_1510dupT504fsX524TruncationNovel
    111722175221564delT1564delTC522fsX558TruncationNovel
    283935185551664delGA1664_1665delG555fsX586TruncationNovel
    10158518562Q562X1684C→TQ562XTruncation2X
    32705518562Q562X1684C→TQ562XTruncation2X
    424816185861755insT1755_1756insTE586fsX586TruncationNovel
    3038681106932079delG2079delGG693fsX784TruncationNovel
    1198331106962085insC2085_2086insCA696fsX713Truncation2Xf
    200002210 + IVS106992096del252096_2097del: IVS10+1del23S699fsX776eTruncationeNovel
    120395111 to 157342200del5604, insAC2200_5946del, insACG734fsX867TruncationNovel
    2448311118272477dup52473_2477dup5I827fsX899TruncationNovel
    392316111874C874X2622C→AC874XTruncationNovel
    2340531118962687insT2687_2688insTV896fs704TruncationNovel
    3209571IVS131054IVS13–2A→GIVS13-2A→GL1054fseTruncationeNovel
    3216111141081S1081X3242C→AS1081XTruncationNovel
    1900661141095Y1095X3285C→GY1095XTruncationNovel
    40000321512723814delG3814delGV1272fsX1272Truncation3X
    40053811512723814delG3814delGV1272fsX1272Truncation3X
    48355311512723814delG3814delGV1272fsX1272Truncation3X
    10000131512723815del10763815_4890delV1272fsX1657TruncationNovel
    20092211512943880delC3880delCL1294fsX1345TruncationNovel
    12080111513323994dup383957_3994dup38D1332fsX1358TruncationNovel
    16810611513574070delT4070delTL1357fsX1365TruncationNovel
    13948611513704109del12insG4109_4120del,insGY1370fsx1426TruncationNovel
    1000052151582W1582X4746G→AW1582XTruncationNovel
    10000821516725014delAG5014_5015delR1672fsX1769Truncation5X + 9Xf
    20187711516725014delAG5014_5015delR1672fsX1769Truncation5X + 9Xf
    30091111516725014delAG5014_5015delR1672fsX1769Truncation5X + 9Xf
    30000321516725014delAG5014_5015delR1672fsX1769Truncation5X + 9Xf
    40000421516725014delAG5014_5015delR1672fsX1769TruncationV2267M5X + 9Xf
    1414111151696Q1696X5086C→TQ1696XTruncationNovel
    2819771151707W1707X5120G→AW1707XTruncationNovel
    43237611519565866insG5866_5867insGV1956fsX1989TruncationNovel
    22664011520046010delT6010delTY2004fsX2115TruncationNovel
    1787501152056E2056X6166G→TE2056XTruncationNovel
    3373151152067Q2067X6199C→TQ2067XTruncationNovel
    42341111521536457insG6457_6458insGV2153fsX2175TruncationNovel
    20828011521846549insT6549_6550insTE2184fsX2184TruncationNovel
    26845511522176650del156650_6664delV2217_L2221delDeletionNovel
    35449411522196656dup156642_6656dupP2219insRLVLPInsertionNovel
    2346501152264R2264X6791C→GR2264XTruncationNovel
    3313181152269S2269X6806C→GS2269XTruncation1Xf
    3335241152291Q2291X6871C→TQ2291XTruncationNovel
    1665081IVS152306IVS15+1G→TIVS15+1G→TR2306fseTruncationeNovel
    1000072IVS152306IVS15–10C→AIVS15-10C→AR2306fsX2421TruncationNovel
    1545951IVS152306IVS15–9G→AIVS15-9G→AR2306fsX2316TruncationNovel
    1391261162307E2307X6919G→TE2307XTruncationNovel
    20000521623186952delC6952delCR2318fsX2340TruncationNovel
    3762521162343W2343X7029G→AW2343XTruncationNovel
    3238371182430R2430X7288C→TR2430XTruncation3Xf
    22006811824357303del157303_7317delR2435_R2439delDeletionNovel
    2399601192523E2523X7567G→TE2523XTruncationNovel
    1005051192556Q2556X7666C→TQ2556XTruncation4X, + 1Xf
    2710431192556Q2556X7666C→TQ2556XTruncation4X, + 1Xf
    3000013192556Q2556X7666C→TQ2556XTruncation4X, + 1Xf
    4305431192556Q2556X7666C→TQ2556XTruncation4X, + 1Xf
    24788012025687704delG7704delGR2568fsX2619TruncationNovel
    2143761212639R2639X7915C→TR2639XTruncation1Xf
    3876581IVS212673IVS21–2delAGIVS21-2delAGG2673fseTruncationeNovel
    3976611IVS212673IVS21–2A→GIVS21-2A→GG2673fseTruncationeNovel
    12859612328698606delAG8606_8607delE2869fsX2935TruncationNovel
    3361671IVS232931IVS23–2A→GIVS23-2A→GG2931fseTruncationeNovel
    3939361IVS24 to IVS302983IVS24–28del30658949_10050delS2983fsTruncationNovel
    13770812631099324dup59320_9324dupI3109fsX3320TruncationNovel
    3011571IVS26 to IVS383133IVS26–243del92149398_11156delG3133fsTruncationNovel
    1000032283218W3218X9654G→AW3218XTruncationNovel
    16828613033269978del8ins39978_9985del, insACAG3326fsX3387TruncationNovel
    2951061333420W3420X10260G→AW3420XTruncationNovel
    2371921333468S3468X10403C→GS3468XTruncationNovel
    1438061IVS353540IVS35–2A→GIVS35-2A→GG3540fseTruncationeNovel
    209281136358210745delC10745delCP3582fsX3584TruncationNovel
    300005236359410780insG10780_10781insGA3594fsX3626TruncationNovel
    2233431IVS363608IVS36+2G→TIVS36+2G→TL3541fseTruncationeNovel
    1243001IVS373673IVS37–1G→TIVS37-1G→TS3673fseTruncationeNovel
    1703671IVS373673IVS37–10C→AIVS37-10C→AS3673fsX3674TruncationR4276W1Xf
    304860139372911185delC11185delCH3729fsX3825TruncationNovel
    258950140376711299del2311299_11321delV3767fsX3808TruncationNovel
    2810001403781Y3781X11343C→GY3781XTruncation1Xf
    1889201IVS403804IVS40–1G→AIVS40-1G→AG3804fseDeletione1Xf
    3000042413842W3842X11525G→AW3842XTruncation2X
    3760041413842W3842X11525G→AW3842XTruncation2X
    300008242387411621delC11621delCP3874fsX3944TruncationNovel
    358230142389211673dup511669_11673dupR3892fsX3946TruncationNovel
    4392401433922W3922X11766G→AW3922XTruncationNovel
    342131143393311799delC11799delCL3933fsX3944TruncationNovel
    1142071433955Q3955X11863C→TQ3955XTruncationR1411CNovel
    3945881433982Q3982X11944C→TQ3982XTruncationNovel
    3979311IVS434002IVS43+2T→GIVS43+2T→GV3905_K4001eDeletioneNovel
    1754531IVS434002IVS43+14del20IVS43+14del20V3905_K4001Deletion2Xf
    1000042444021R4021X12061C→TR4021XTruncation2Xf
    386488146416112483del1112483_12493delL4161fsX4205TruncationNovel
    3851511464220E4220X12658G→TE4220XTruncationNovel
    2643481464228R4228X12682C→TR4228XTruncation3Xf
PKD2
    1215431185Q85X253C→TQ85XTruncationNovel
    20000621143428delG428delGG143fsX232TruncationNovel
    19226112223667delG667delGE223fsX232TruncationNovel
    27749014306R306X916C→TR306XTruncation7Xf
    13263514316948delA948delAL316fsX337TruncationNovel
    41962014320R320X958C→TR320XTruncation2X + 1Xf
    43828314320R320X958C→TR320XTruncation2X + 1Xf
    14000524325R325X973C→TR325XTruncationI2463T, S4144TNovel
    3013721IVS4365IVS4+3del4IVS4+3delAAGTA365Truncation1Xf
    200008264951483delA1483delAI495fsX513TruncationNovel
    3000022IVS8633IVS8+1G→AIVS8+1G→AL573fseTruncationeNovel
    2033281117202159delA2159delAN720fsX736Truncation3Xf
    2245021117202159dupA2159_2160insAN720fsX724Truncation3Xf
    3000062IVS11747IVS11–1G→TIVS11-1G→TK748fseTruncationeNovel
    2083241IVS12787IVS12+1G→AIVS12+1G→AK748fseTruncationeNovel
    312317113807R807X2419C→TR807XTruncation1Xf
    2945111138332498delG2498delGG833fsX843TruncationNovel
    140353114872R872X2614C→TR872XTruncation3X + 6Xf
    151030114872R872X2614C→TR872XTruncation3X + 6Xf
    161547114872R872X2614C→TR872XTruncation3X + 6Xf
    300641114891IVS14–2A→GIVS14-2A→GD891fseTruncationeNovel