ClinVar Miner

List of variants in gene PKD1 reported as uncertain significance for Polycystic kidney disease, adult type

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Gene type:
ClinVar version:
Total variants: 429
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.4051C>T (p.Arg1351Trp) rs55840049 0.00551
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397 0.00495
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu) rs199476099 0.00351
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481 0.00222
NM_001009944.3(PKD1):c.8713G>A (p.Val2905Ile) rs147788838 0.00182
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr) rs200037070 0.00145
NM_001009944.3(PKD1):c.11017-3C>T rs185355445 0.00135
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204 0.00125
NM_001009944.3(PKD1):c.4055G>A (p.Ser1352Asn) rs141274774 0.00073
NM_001009944.3(PKD1):c.3380C>T (p.Pro1127Leu) rs145922241 0.00067
NM_001009944.3(PKD1):c.11356G>C (p.Glu3786Gln) rs147992238 0.00053
NM_001009944.3(PKD1):c.8129C>A (p.Thr2710Asn) rs199700485 0.00049
NM_001009944.3(PKD1):c.10043G>A (p.Arg3348Gln) rs146494724 0.00044
NM_001009944.3(PKD1):c.11675G>A (p.Arg3892His) rs748887038 0.00040
NM_001009944.3(PKD1):c.7124C>T (p.Ala2375Val) rs780145654 0.00039
NM_001009944.3(PKD1):c.4838C>T (p.Ala1613Val) rs150405131 0.00038
NM_001009944.3(PKD1):c.7937T>C (p.Ile2646Thr) rs374500158 0.00029
NM_001009944.3(PKD1):c.8663G>A (p.Arg2888His) rs200168879 0.00029
NM_001009944.3(PKD1):c.11870G>A (p.Gly3957Asp) rs536586062 0.00026
NM_001009944.3(PKD1):c.4015G>A (p.Val1339Met) rs147141131 0.00024
NM_001009944.3(PKD1):c.674C>T (p.Ser225Leu) rs748021456 0.00024
NM_001009944.3(PKD1):c.9923+35G>T rs376365127 0.00021
NM_001009944.3(PKD1):c.7430G>A (p.Arg2477His) rs556618384 0.00019
NM_001009944.3(PKD1):c.2896C>T (p.Arg966Trp) rs746771378 0.00017
NM_001009944.3(PKD1):c.8009A>G (p.Gln2670Arg) rs749291211 0.00017
NM_001009944.3(PKD1):c.8294G>A (p.Arg2765His) rs375198888 0.00017
NM_001009944.3(PKD1):c.1967T>A (p.Leu656Gln) rs759950842 0.00016
NM_001009944.3(PKD1):c.5830G>A (p.Gly1944Arg) rs200001471 0.00016
NM_001009944.3(PKD1):c.7835C>T (p.Ser2612Leu) rs200646755 0.00015
NM_001009944.3(PKD1):c.5032G>A (p.Gly1678Ser) rs146527465 0.00014
NM_001009944.3(PKD1):c.8041C>T (p.Arg2681Cys) rs540634317 0.00014
NM_001009944.3(PKD1):c.4835C>T (p.Thr1612Met) rs767665300 0.00013
NM_001009944.3(PKD1):c.6026C>T (p.Ser2009Leu) rs145762096 0.00013
NM_001009944.3(PKD1):c.7039C>T (p.Arg2347Cys) rs781114712 0.00013
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val) rs528213425 0.00012
NM_001009944.3(PKD1):c.9898G>A (p.Gly3300Arg) rs777024498 0.00012
NM_001009944.3(PKD1):c.6185A>T (p.Gln2062Leu) rs201062488 0.00011
NM_001009944.3(PKD1):c.9277G>A (p.Ala3093Thr) rs111458906 0.00011
NM_001009944.3(PKD1):c.10042C>T (p.Arg3348Trp) rs769208706 0.00010
NM_001009944.3(PKD1):c.1867A>C (p.Ser623Arg) rs750430411 0.00010
NM_001009944.3(PKD1):c.2462T>C (p.Val821Ala) rs766549097 0.00010
NM_001009944.3(PKD1):c.3486C>G (p.Asp1162Glu) rs144211349 0.00010
NM_001009944.3(PKD1):c.6575C>G (p.Thr2192Ser) rs919229409 0.00010
NM_001009944.3(PKD1):c.7289G>A (p.Arg2430Gln) rs62038819 0.00010
NM_001009944.3(PKD1):c.8464G>A (p.Val2822Met) rs201289693 0.00010
NM_001009944.3(PKD1):c.4891C>T (p.Leu1631Phe) rs543561238 0.00009
NM_001009944.3(PKD1):c.5960G>A (p.Gly1987Asp) rs527929848 0.00009
NM_001009944.3(PKD1):c.8194C>T (p.Arg2732Trp) rs751031560 0.00009
NM_001009944.3(PKD1):c.8372G>A (p.Arg2791Gln) rs367746233 0.00009
NM_001009944.3(PKD1):c.8590G>A (p.Glu2864Lys) rs374629549 0.00009
NM_001009944.3(PKD1):c.8611G>A (p.Ala2871Thr) rs556305338 0.00009
NM_001009944.3(PKD1):c.8716G>A (p.Gly2906Ser) rs376611349 0.00009
NM_001009944.3(PKD1):c.997G>A (p.Val333Met) rs772316684 0.00009
NM_001009944.3(PKD1):c.12089C>T (p.Thr4030Ile) rs751776839 0.00008
NM_001009944.3(PKD1):c.12766G>A (p.Ala4256Thr) rs376769777 0.00008
NM_001009944.3(PKD1):c.2500G>A (p.Gly834Ser) rs766302578 0.00007
NM_001009944.3(PKD1):c.5453C>T (p.Ala1818Val) rs746910149 0.00007
NM_001009944.3(PKD1):c.6403G>A (p.Ala2135Thr) rs779342040 0.00007
NM_001009944.3(PKD1):c.7567G>A (p.Glu2523Lys) rs554493059 0.00007
NM_001009944.3(PKD1):c.8110G>A (p.Ala2704Thr) rs555901411 0.00007
NM_001009944.3(PKD1):c.10141C>T (p.Leu3381Phe) rs142799331 0.00006
NM_001009944.3(PKD1):c.10429C>A (p.Leu3477Ile) rs62621452 0.00006
NM_001009944.3(PKD1):c.6878C>T (p.Pro2293Leu) rs530832015 0.00006
NM_001009944.3(PKD1):c.7034C>T (p.Ala2345Val) rs769636582 0.00006
NM_001009944.3(PKD1):c.7321G>A (p.Gly2441Ser) rs376618983 0.00006
NM_001009944.3(PKD1):c.7340C>T (p.Thr2447Met) rs760315179 0.00006
NM_001009944.3(PKD1):c.8045C>T (p.Ser2682Leu) rs151308544 0.00006
NM_001009944.3(PKD1):c.8146A>G (p.Ile2716Val) rs1353004865 0.00006
NM_001009944.3(PKD1):c.8428G>A (p.Glu2810Lys) rs777608163 0.00006
NM_001009944.3(PKD1):c.3281C>G (p.Thr1094Ser) rs752995047 0.00005
NM_001009944.3(PKD1):c.9136C>T (p.Arg3046Cys) rs773857360 0.00005
NM_001009944.3(PKD1):c.9224A>C (p.Tyr3075Ser) rs886265852 0.00005
NM_001009944.3(PKD1):c.9820C>T (p.Arg3274Cys) rs531854741 0.00005
NM_001009944.3(PKD1):c.10006G>A (p.Val3336Ile) rs754956606 0.00004
NM_001009944.3(PKD1):c.10804G>A (p.Gly3602Ser) rs781492044 0.00004
NM_001009944.3(PKD1):c.11030A>G (p.Tyr3677Cys) rs553106581 0.00004
NM_001009944.3(PKD1):c.1603G>A (p.Gly535Arg) rs776110243 0.00004
NM_001009944.3(PKD1):c.2243C>T (p.Ser748Leu) rs761540024 0.00004
NM_001009944.3(PKD1):c.4028C>T (p.Pro1343Leu) rs138096771 0.00004
NM_001009944.3(PKD1):c.4632G>A (p.Val1544=) rs142035983 0.00004
NM_001009944.3(PKD1):c.5209A>G (p.Thr1737Ala) rs760993331 0.00004
NM_001009944.3(PKD1):c.5501A>G (p.Asn1834Ser) rs544092291 0.00004
NM_001009944.3(PKD1):c.5746G>C (p.Ala1916Pro) rs773527738 0.00004
NM_001009944.3(PKD1):c.7147C>T (p.Arg2383Cys) rs754486194 0.00004
NM_001009944.3(PKD1):c.7309G>A (p.Val2437Met) rs780043149 0.00004
NM_001009944.3(PKD1):c.7405C>T (p.Arg2469Cys) rs367918229 0.00004
NM_001009944.3(PKD1):c.8002C>G (p.Leu2668Val) rs761726794 0.00004
NM_001009944.3(PKD1):c.8414A>G (p.His2805Arg) rs202086892 0.00004
NM_001009944.3(PKD1):c.9626G>A (p.Arg3209His) rs1063405 0.00004
NM_001009944.3(PKD1):c.9631G>A (p.Ala3211Thr) rs533152302 0.00004
NM_001009944.3(PKD1):c.11014C>T (p.Arg3672Trp) rs140389000 0.00003
NM_001009944.3(PKD1):c.11157-9C>G rs1191413154 0.00003
NM_001009944.3(PKD1):c.11347G>A (p.Val3783Ile) rs200120839 0.00003
NM_001009944.3(PKD1):c.12355C>T (p.Arg4119Trp) rs889547396 0.00003
NM_001009944.3(PKD1):c.16C>T (p.Pro6Ser) rs1320256969 0.00003
NM_001009944.3(PKD1):c.226C>T (p.His76Tyr) rs932577597 0.00003
NM_001009944.3(PKD1):c.2473C>T (p.Arg825Trp) rs773426104 0.00003
NM_001009944.3(PKD1):c.2728G>A (p.Asp910Asn) rs773329559 0.00003
NM_001009944.3(PKD1):c.3029A>G (p.Asn1010Ser) rs149041162 0.00003
NM_001009944.3(PKD1):c.3496G>A (p.Gly1166Ser) rs573566419 0.00003
NM_001009944.3(PKD1):c.3605C>T (p.Ala1202Val) rs767834829 0.00003
NM_001009944.3(PKD1):c.5071G>A (p.Gly1691Ser) rs552542784 0.00003
NM_001009944.3(PKD1):c.5173G>A (p.Ala1725Thr) rs779607937 0.00003
NM_001009944.3(PKD1):c.5645C>T (p.Thr1882Met) rs772716160 0.00003
NM_001009944.3(PKD1):c.6048C>G (p.Asp2016Glu) rs767363184 0.00003
NM_001009944.3(PKD1):c.6097G>A (p.Ala2033Thr) rs771364071 0.00003
NM_001009944.3(PKD1):c.6838G>A (p.Glu2280Lys) rs375782776 0.00003
NM_001009944.3(PKD1):c.9199C>T (p.Pro3067Ser) rs1211697062 0.00003
NM_001009944.3(PKD1):c.9313C>T (p.Arg3105Trp) rs1376608198 0.00003
NM_001009944.3(PKD1):c.9814C>T (p.Arg3272Cys) rs143453080 0.00003
NM_001009944.3(PKD1):c.9934G>A (p.Val3312Met) rs1459100196 0.00003
NM_001009944.3(PKD1):c.9970G>A (p.Ala3324Thr) rs1422578175 0.00003
NM_001009944.3(PKD1):c.127C>G (p.Pro43Ala) rs1114167365 0.00002
NM_001009944.3(PKD1):c.1360C>T (p.Arg454Cys) rs765408067 0.00002
NM_001009944.3(PKD1):c.2489C>T (p.Ala830Val) rs775988021 0.00002
NM_001009944.3(PKD1):c.2806C>T (p.Arg936Cys) rs1085307552 0.00002
NM_001009944.3(PKD1):c.3255G>A (p.Val1085=) rs754575596 0.00002
NM_001009944.3(PKD1):c.3344C>T (p.Thr1115Met) rs552292318 0.00002
NM_001009944.3(PKD1):c.3736G>A (p.Asp1246Asn) rs553360241 0.00002
NM_001009944.3(PKD1):c.4189G>A (p.Glu1397Lys) rs755462601 0.00002
NM_001009944.3(PKD1):c.4513G>A (p.Gly1505Ser) rs1169417989 0.00002
NM_001009944.3(PKD1):c.5068G>A (p.Ala1690Thr) rs780133373 0.00002
NM_001009944.3(PKD1):c.6065C>T (p.Ser2022Leu) rs781681199 0.00002
NM_001009944.3(PKD1):c.7600A>G (p.Ser2534Gly) rs3874655 0.00002
NM_001009944.3(PKD1):c.8161+4C>T rs766547394 0.00002
NM_001009944.3(PKD1):c.8369C>T (p.Pro2790Leu) rs769345341 0.00002
NM_001009944.3(PKD1):c.8795A>G (p.His2932Arg) rs201524173 0.00002
NM_001009944.3(PKD1):c.8920C>T (p.Arg2974Trp) rs536893844 0.00002
NM_001009944.3(PKD1):c.9124G>A (p.Val3042Ile) rs966307189 0.00002
NM_001009944.3(PKD1):c.9454C>T (p.Arg3152Trp) rs776866974 0.00002
NM_001009944.3(PKD1):c.10001A>G (p.Tyr3334Cys) rs1287231217 0.00001
NM_001009944.3(PKD1):c.10826T>C (p.Leu3609Ser) rs776847358 0.00001
NM_001009944.3(PKD1):c.10903G>C (p.Ala3635Pro) rs1166642512 0.00001
NM_001009944.3(PKD1):c.1193C>T (p.Pro398Leu) rs1183794501 0.00001
NM_001009944.3(PKD1):c.11942C>T (p.Ala3981Val) rs1424119004 0.00001
NM_001009944.3(PKD1):c.12479C>T (p.Pro4160Leu) rs780598231 0.00001
NM_001009944.3(PKD1):c.12526C>T (p.Pro4176Ser) rs755976712 0.00001
NM_001009944.3(PKD1):c.12559C>T (p.Pro4187Ser) rs778378731 0.00001
NM_001009944.3(PKD1):c.2200G>A (p.Gly734Ser) rs1311664031 0.00001
NM_001009944.3(PKD1):c.2360A>T (p.Asn787Ile) rs928084406 0.00001
NM_001009944.3(PKD1):c.2849T>C (p.Leu950Pro) rs2369063 0.00001
NM_001009944.3(PKD1):c.2878G>A (p.Gly960Ser) rs1163700577 0.00001
NM_001009944.3(PKD1):c.2993C>T (p.Ala998Val) rs1393997103 0.00001
NM_001009944.3(PKD1):c.3037G>A (p.Val1013Met) rs1301518884 0.00001
NM_001009944.3(PKD1):c.3494A>G (p.Asp1165Gly) rs751293870 0.00001
NM_001009944.3(PKD1):c.3643C>G (p.Leu1215Val) rs144338515 0.00001
NM_001009944.3(PKD1):c.4057G>A (p.Gly1353Ser) rs1474271392 0.00001
NM_001009944.3(PKD1):c.4664C>T (p.Ala1555Val) rs758865304 0.00001
NM_001009944.3(PKD1):c.4696G>A (p.Val1566Met) rs2575314 0.00001
NM_001009944.3(PKD1):c.4736G>C (p.Arg1579Pro) rs541777274 0.00001
NM_001009944.3(PKD1):c.5080C>T (p.His1694Tyr) rs374424212 0.00001
NM_001009944.3(PKD1):c.5125G>A (p.Asp1709Asn) rs1199050207 0.00001
NM_001009944.3(PKD1):c.5284A>G (p.Thr1762Ala) rs369625462 0.00001
NM_001009944.3(PKD1):c.5986G>A (p.Val1996Met) rs1114167373 0.00001
NM_001009944.3(PKD1):c.6124G>A (p.Ala2042Thr) rs556681288 0.00001
NM_001009944.3(PKD1):c.6313A>G (p.Thr2105Ala) rs1229710301 0.00001
NM_001009944.3(PKD1):c.6356A>G (p.Asp2119Gly) rs755560531 0.00001
NM_001009944.3(PKD1):c.6404C>T (p.Ala2135Val) rs368987928 0.00001
NM_001009944.3(PKD1):c.6446C>T (p.Pro2149Leu) rs982097679 0.00001
NM_001009944.3(PKD1):c.6739G>A (p.Ala2247Thr) rs749515571 0.00001
NM_001009944.3(PKD1):c.7286T>G (p.Met2429Arg) rs1430979320 0.00001
NM_001009944.3(PKD1):c.7777G>A (p.Ala2593Thr) rs760879762 0.00001
NM_001009944.3(PKD1):c.802G>A (p.Val268Ile) rs566531762 0.00001
NM_001009944.3(PKD1):c.8049C>T (p.Cys2683=) rs377029031 0.00001
NM_001009944.3(PKD1):c.8207C>T (p.Pro2736Leu) rs760592410 0.00001
NM_001009944.3(PKD1):c.8302G>A (p.Val2768Met) rs1456510041 0.00001
NM_001009944.3(PKD1):c.9688G>C (p.Val3230Leu) rs747054731 0.00001
NM_001009944.3(PKD1):c.9739C>T (p.Arg3247Cys) rs757771138 0.00001
NM_001009944.3(PKD1):c.10419C>G (p.Ile3473Met) rs2091884870
NM_001009944.3(PKD1):c.10426G>A (p.Val3476Ile) rs776616291
NM_001009944.3(PKD1):c.10481C>G (p.Thr3494Arg) rs752503970
NM_001009944.3(PKD1):c.10698GGCTGT[4] (p.3567AV[4]) rs777460677
NM_001009944.3(PKD1):c.10772C>T (p.Ser3591Phe) rs2091723749
NM_001009944.3(PKD1):c.10785C>A (p.Ser3595Arg)
NM_001009944.3(PKD1):c.10817T>G (p.Leu3606Arg) rs1057516200
NM_001009944.3(PKD1):c.10820A>T (p.Lys3607Met) rs1555446946
NM_001009944.3(PKD1):c.10821G>C (p.Lys3607Asn) rs2091722144
NM_001009944.3(PKD1):c.1084G>A (p.Val362Met) rs1428207672
NM_001009944.3(PKD1):c.10922C>T (p.Ala3641Val) rs2091707606
NM_001009944.3(PKD1):c.10946C>A (p.Pro3649His) rs2091706289
NM_001009944.3(PKD1):c.1096T>C (p.Ser366Pro) rs2092666416
NM_001009944.3(PKD1):c.10973A>G (p.Lys3658Arg)
NM_001009944.3(PKD1):c.10G>C (p.Ala4Pro)
NM_001009944.3(PKD1):c.11017-25A>C rs2151704874
NM_001009944.3(PKD1):c.11116A>G (p.Lys3706Glu) rs2151704349
NM_001009944.3(PKD1):c.11155C>T (p.Arg3719Trp) rs1428669259
NM_001009944.3(PKD1):c.11158T>G (p.Ser3720Ala) rs780574700
NM_001009944.3(PKD1):c.11243G>C (p.Arg3748Pro) rs546924823
NM_001009944.3(PKD1):c.11249G>A (p.Arg3750Gln) rs1327414405
NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln) rs1555446330
NM_001009944.3(PKD1):c.11261T>C (p.Leu3754Pro) rs2151701845
NM_001009944.3(PKD1):c.11270-10T>A rs1567154300
NM_001009944.3(PKD1):c.11340_11345dup (p.Tyr3781_Asp3782dup) rs2091618795
NM_001009944.3(PKD1):c.11351G>T (p.Gly3784Val) rs142455071
NM_001009944.3(PKD1):c.11411+4A>G
NM_001009944.3(PKD1):c.11411+5G>A
NM_001009944.3(PKD1):c.11450G>A (p.Gly3817Glu) rs1168911293
NM_001009944.3(PKD1):c.11519A>C (p.His3840Pro)
NM_001009944.3(PKD1):c.11606T>G (p.Leu3869Arg) rs1555445569
NM_001009944.3(PKD1):c.11614G>C (p.Glu3872Gln) rs2091577195
NM_001009944.3(PKD1):c.11684C>T (p.Ala3895Val) rs1251469390
NM_001009944.3(PKD1):c.11713-3C>A
NM_001009944.3(PKD1):c.11716T>C (p.Cys3906Arg) rs2091502521
NM_001009944.3(PKD1):c.11744C>T (p.Ala3915Val) rs778893944
NM_001009944.3(PKD1):c.11872G>C (p.Ala3958Pro) rs2091492509
NM_001009944.3(PKD1):c.11875G>C (p.Ala3959Pro) rs756245085
NM_001009944.3(PKD1):c.11959G>A (p.Ala3987Thr)
NM_001009944.3(PKD1):c.11962C>T (p.Arg3988Cys) rs747425659
NM_001009944.3(PKD1):c.11988_11996del (p.Phe3996_Leu3998del)
NM_001009944.3(PKD1):c.12070C>T (p.Pro4024Ser) rs771494407
NM_001009944.3(PKD1):c.1211C>G (p.Pro404Arg) rs767579073
NM_001009944.3(PKD1):c.12149C>T (p.Ser4050Phe) rs186160250
NM_001009944.3(PKD1):c.12205A>G (p.Thr4069Ala)
NM_001009944.3(PKD1):c.12206C>T (p.Thr4069Ile)
NM_001009944.3(PKD1):c.12326G>T (p.Arg4109Leu)
NM_001009944.3(PKD1):c.12334G>C (p.Ala4112Pro)
NM_001009944.3(PKD1):c.12386T>G (p.Met4129Arg) rs2091436717
NM_001009944.3(PKD1):c.12425G>T (p.Gly4142Val) rs757407982
NM_001009944.3(PKD1):c.12449G>A (p.Arg4150His) rs36221080
NM_001009944.3(PKD1):c.12458T>G (p.Val4153Gly) rs2151678778
NM_001009944.3(PKD1):c.12465T>G (p.Phe4155Leu) rs2091413514
NM_001009944.3(PKD1):c.12514del (p.Ser4172fs) rs1555444225
NM_001009944.3(PKD1):c.12602_12635del (p.Leu4201fs)
NM_001009944.3(PKD1):c.1265TGG[2] (p.Val424del) rs1596588396
NM_001009944.3(PKD1):c.12827G>A (p.Arg4276Gln) rs1188304476
NM_001009944.3(PKD1):c.12864C>G (p.Ser4288Arg)
NM_001009944.3(PKD1):c.12878G>A (p.Arg4293Gln)
NM_001009944.3(PKD1):c.12888C>G (p.Asn4296Lys) rs777990224
NM_001009944.3(PKD1):c.1385G>A (p.Arg462Lys) rs2092659023
NM_001009944.3(PKD1):c.1404C>G (p.Ile468Met) rs755150845
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg) rs1555458704
NM_001009944.3(PKD1):c.1544G>T (p.Gly515Val) rs2092647090
NM_001009944.3(PKD1):c.1558G>A (p.Asp520Asn)
NM_001009944.3(PKD1):c.1617G>C (p.Gln539His) rs1382845038
NM_001009944.3(PKD1):c.1630CTC[1] (p.Leu545del) rs1596585121
NM_001009944.3(PKD1):c.1781T>C (p.Phe594Ser) rs1596582702
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp) rs1555458413
NM_001009944.3(PKD1):c.1894A>G (p.Asn632Asp) rs763213387
NM_001009944.3(PKD1):c.1991C>T (p.Ala664Val)
NM_001009944.3(PKD1):c.2038T>G (p.Tyr680Asp) rs2151816239
NM_001009944.3(PKD1):c.2081C>T (p.Pro694Leu)
NM_001009944.3(PKD1):c.2097+5G>A rs2092614616
NM_001009944.3(PKD1):c.2102C>A (p.Thr701Asn) rs1456789343
NM_001009944.3(PKD1):c.2105T>G (p.Leu702Arg) rs1596577674
NM_001009944.3(PKD1):c.2109C>A (p.His703Gln) rs527655141
NM_001009944.3(PKD1):c.2139C>A (p.Asp713Glu)
NM_001009944.3(PKD1):c.215T>A (p.Leu72Gln) rs1596636573
NM_001009944.3(PKD1):c.216-8C>G
NM_001009944.3(PKD1):c.2170G>T (p.Gly724Cys)
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.218A>G (p.Asp73Gly) rs2151826654
NM_001009944.3(PKD1):c.2421C>G (p.Ser807=) rs2092598341
NM_001009944.3(PKD1):c.2492C>A (p.Pro831His)
NM_001009944.3(PKD1):c.2540T>C (p.Leu847Pro) rs1596576007
NM_001009944.3(PKD1):c.2699C>T (p.Pro900Leu)
NM_001009944.3(PKD1):c.2720ACGTGGTGG[3] (p.Asp910_Val912dup) rs2092591934
NM_001009944.3(PKD1):c.2914A>G (p.Lys972Glu) rs2092566273
NM_001009944.3(PKD1):c.2930T>A (p.Phe977Tyr) rs1596570459
NM_001009944.3(PKD1):c.301A>G (p.Asn101Asp) rs2092684149
NM_001009944.3(PKD1):c.303C>A (p.Asn101Lys) rs2092684130
NM_001009944.3(PKD1):c.3161+5G>A rs2092552533
NM_001009944.3(PKD1):c.3170T>C (p.Phe1057Ser) rs2151804604
NM_001009944.3(PKD1):c.3212A>C (p.Tyr1071Ser) rs2092538545
NM_001009944.3(PKD1):c.3283_3285del (p.Tyr1095del) rs2092536449
NM_001009944.3(PKD1):c.3308T>G (p.Leu1103Arg) rs2151801930
NM_001009944.3(PKD1):c.3415_3423del (p.Val1139_Gly1141del) rs1060499705
NM_001009944.3(PKD1):c.3437_3439del (p.Phe1146del) rs1320867301
NM_001009944.3(PKD1):c.3483G>T (p.Trp1161Cys) rs1483748105
NM_001009944.3(PKD1):c.359+5G>A rs2092683412
NM_001009944.3(PKD1):c.3655A>G (p.Met1219Val) rs139100448
NM_001009944.3(PKD1):c.3893G>A (p.Arg1298His)
NM_001009944.3(PKD1):c.38T>C (p.Leu13Pro) rs2092941758
NM_001009944.3(PKD1):c.3902C>G (p.Pro1301Arg)
NM_001009944.3(PKD1):c.3902C>T (p.Pro1301Leu)
NM_001009944.3(PKD1):c.3944C>A (p.Ala1315Asp)
NM_001009944.3(PKD1):c.3977T>C (p.Phe1326Ser) rs2092493397
NM_001009944.3(PKD1):c.4047C>G (p.Phe1349Leu) rs770459654
NM_001009944.3(PKD1):c.405G>T (p.Trp135Cys) rs2092679535
NM_001009944.3(PKD1):c.407T>A (p.Leu136Gln)
NM_001009944.3(PKD1):c.4082T>C (p.Leu1361Pro) rs2092490160
NM_001009944.3(PKD1):c.4101_4118del (p.Arg1367_Thr1372del) rs2092489106
NM_001009944.3(PKD1):c.4103C>T (p.Ala1368Val)
NM_001009944.3(PKD1):c.4121T>A (p.Ile1374Asn)
NM_001009944.3(PKD1):c.416G>T (p.Trp139Leu)
NM_001009944.3(PKD1):c.4451C>T (p.Pro1484Leu)
NM_001009944.3(PKD1):c.4500G>C (p.Trp1500Cys)
NM_001009944.3(PKD1):c.4544A>C (p.His1515Pro) rs2092477293
NM_001009944.3(PKD1):c.4572_4574del (p.Val1525del)
NM_001009944.3(PKD1):c.4586G>A (p.Gly1529Asp) rs2151797032
NM_001009944.3(PKD1):c.4601_4602delinsTT (p.Ser1534Ile) rs1596558469
NM_001009944.3(PKD1):c.4625T>G (p.Val1542Gly) rs2092475450
NM_001009944.3(PKD1):c.4630G>A (p.Val1544Met)
NM_001009944.3(PKD1):c.4631T>G (p.Val1544Gly) rs1555455904
NM_001009944.3(PKD1):c.4661A>G (p.Asn1554Ser)
NM_001009944.3(PKD1):c.4781G>T (p.Gly1594Val)
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del) rs1567198691
NM_001009944.3(PKD1):c.5093G>A (p.Arg1698Gln) rs569887918
NM_001009944.3(PKD1):c.5108T>C (p.Leu1703Pro) rs1596556474
NM_001009944.3(PKD1):c.5254T>C (p.Trp1752Arg) rs2151794130
NM_001009944.3(PKD1):c.5270G>A (p.Gly1757Glu) rs770462764
NM_001009944.3(PKD1):c.5494G>A (p.Gly1832Ser) rs2151792963
NM_001009944.3(PKD1):c.5570C>T (p.Pro1857Leu)
NM_001009944.3(PKD1):c.5639A>T (p.Asn1880Ile)
NM_001009944.3(PKD1):c.565T>G (p.Ser189Ala) rs1555459201
NM_001009944.3(PKD1):c.5759G>A (p.Arg1920His)
NM_001009944.3(PKD1):c.5803C>T (p.Arg1935Cys) rs776113903
NM_001009944.3(PKD1):c.5804G>C (p.Arg1935Pro) rs770331568
NM_001009944.3(PKD1):c.5848G>A (p.Val1950Met) rs771669643
NM_001009944.3(PKD1):c.5866G>T (p.Val1956Leu) rs781454286
NM_001009944.3(PKD1):c.5953G>A (p.Ala1985Thr) rs771005067
NM_001009944.3(PKD1):c.5987T>G (p.Val1996Gly) rs1596553257
NM_001009944.3(PKD1):c.6077T>A (p.Val2026Asp)
NM_001009944.3(PKD1):c.6287T>C (p.Phe2096Ser) rs1596552090
NM_001009944.3(PKD1):c.6293A>G (p.Asp2098Gly) rs2151788839
NM_001009944.3(PKD1):c.6335A>C (p.His2112Pro) rs1596551934
NM_001009944.3(PKD1):c.6382A>G (p.Asn2128Asp) rs2151788281
NM_001009944.3(PKD1):c.6384C>G (p.Asn2128Lys) rs1247882278
NM_001009944.3(PKD1):c.6499A>G (p.Asn2167Asp) rs2151787670
NM_001009944.3(PKD1):c.6512C>A (p.Ala2171Asp)
NM_001009944.3(PKD1):c.6561G>T (p.Trp2187Cys)
NM_001009944.3(PKD1):c.6657_6671dup (p.Arg2220_Pro2224dup) rs2151786683
NM_001009944.3(PKD1):c.665C>A (p.Ala222Glu) rs1567218284
NM_001009944.3(PKD1):c.6683A>G (p.Tyr2228Cys) rs1596550613
NM_001009944.3(PKD1):c.6729G>T (p.Gln2243His) rs1473861956
NM_001009944.3(PKD1):c.6739G>C (p.Ala2247Pro) rs749515571
NM_001009944.3(PKD1):c.6746T>A (p.Val2249Glu) rs1555454223
NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del) rs1596550396
NM_001009944.3(PKD1):c.7005G>C (p.Glu2335Asp) rs2092401473
NM_001009944.3(PKD1):c.7007A>G (p.Tyr2336Cys) rs2151783812
NM_001009944.3(PKD1):c.7010C>A (p.Thr2337Asn) rs1060499713
NM_001009944.3(PKD1):c.7013T>G (p.Phe2338Cys)
NM_001009944.3(PKD1):c.7061A>C (p.Gln2354Pro) rs2092400132
NM_001009944.3(PKD1):c.7063A>C (p.Thr2355Pro) rs2092400099
NM_001009944.3(PKD1):c.7104_7118del (p.Leu2368_Cys2373delinsPhe)
NM_001009944.3(PKD1):c.7226C>T (p.Thr2409Met) rs1446061270
NM_001009944.3(PKD1):c.7271C>G (p.Thr2424Arg) rs1367567191
NM_001009944.3(PKD1):c.7271C>T (p.Thr2424Met) rs1367567191
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp) rs151257298
NM_001009944.3(PKD1):c.7324G>A (p.Glu2442Lys)
NM_001009944.3(PKD1):c.7367AGG[2] (p.Glu2458del) rs1391744174
NM_001009944.3(PKD1):c.7381G>A (p.Ala2461Thr)
NM_001009944.3(PKD1):c.7390C>T (p.Arg2464Cys)
NM_001009944.3(PKD1):c.7409C>T (p.Pro2470Leu) rs539143745
NM_001009944.3(PKD1):c.7480G>A (p.Glu2494Lys)
NM_001009944.3(PKD1):c.7487C>T (p.Thr2496Met)
NM_001009944.3(PKD1):c.7499A>T (p.Asp2500Val) rs1596540533
NM_001009944.3(PKD1):c.7546C>G (p.Arg2516Gly) rs797044902
NM_001009944.3(PKD1):c.7553G>A (p.Arg2518His) rs781066020
NM_001009944.3(PKD1):c.755C>G (p.Pro252Arg) rs771788496
NM_001009944.3(PKD1):c.7702A>G (p.Arg2568Gly) rs2092327341
NM_001009944.3(PKD1):c.7704-4G>T rs778212840
NM_001009944.3(PKD1):c.7712C>T (p.Ala2571Val) rs756838066
NM_001009944.3(PKD1):c.7796T>G (p.Leu2599Arg) rs2092321685
NM_001009944.3(PKD1):c.7863+5G>C rs2092319525
NM_001009944.3(PKD1):c.7867G>A (p.Glu2623Lys) rs2092305182
NM_001009944.3(PKD1):c.7949T>C (p.Leu2650Pro)
NM_001009944.3(PKD1):c.8032C>A (p.Leu2678Ile) rs1269793804
NM_001009944.3(PKD1):c.8072T>A (p.Leu2691Gln)
NM_001009944.3(PKD1):c.8072T>G (p.Leu2691Arg)
NM_001009944.3(PKD1):c.8087T>C (p.Leu2696Pro) rs201238819
NM_001009944.3(PKD1):c.8138G>A (p.Gly2713Glu) rs1395231369
NM_001009944.3(PKD1):c.8224G>A (p.Glu2742Lys) rs202159463
NM_001009944.3(PKD1):c.8272G>C (p.Ala2758Pro) rs2092204988
NM_001009944.3(PKD1):c.8276T>C (p.Leu2759Pro)
NM_001009944.3(PKD1):c.8279T>C (p.Met2760Thr) rs879809222
NM_001009944.3(PKD1):c.8282G>C (p.Arg2761Pro) rs145629362
NM_001009944.3(PKD1):c.8284_8295del (p.Ile2762_Arg2765del) rs1596527370
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup) rs1596527370
NM_001009944.3(PKD1):c.8291T>C (p.Met2764Thr) rs1596527405
NM_001009944.3(PKD1):c.8378T>A (p.Leu2793Gln) rs2151755543
NM_001009944.3(PKD1):c.8381T>C (p.Leu2794Pro) rs1596527065
NM_001009944.3(PKD1):c.8471A>G (p.Gln2824Arg)
NM_001009944.3(PKD1):c.8499delinsAAAG (p.Pro2833_Phe2834insLys) rs1596526681
NM_001009944.3(PKD1):c.8593C>T (p.Arg2865Trp)
NM_001009944.3(PKD1):c.8611G>C (p.Ala2871Pro) rs556305338
NM_001009944.3(PKD1):c.8672CCAACTCCG[1] (p.2891ANS[1]) rs763199524
NM_001009944.3(PKD1):c.8756G>A (p.Gly2919Glu)
NM_001009944.3(PKD1):c.8769G>C (p.Gln2923His)
NM_001009944.3(PKD1):c.8791+5G>A rs751652400
NM_001009944.3(PKD1):c.8791G>A (p.Gly2931Ser)
NM_001009944.3(PKD1):c.8809G>A (p.Glu2937Lys) rs2151752267
NM_001009944.3(PKD1):c.8827G>T (p.Ala2943Ser) rs1440626571
NM_001009944.3(PKD1):c.8851C>T (p.Arg2951Trp)
NM_001009944.3(PKD1):c.8896G>T (p.Glu2966Ter) rs773129632
NM_001009944.3(PKD1):c.890C>G (p.Pro297Arg) rs757527492
NM_001009944.3(PKD1):c.8999G>C (p.Arg3000Pro) rs746460070
NM_001009944.3(PKD1):c.89G>A (p.Cys30Tyr) rs2092941343
NM_001009944.3(PKD1):c.9029T>A (p.Leu3010Gln) rs750501225
NM_001009944.3(PKD1):c.9041T>C (p.Leu3014Pro) rs2151750096
NM_001009944.3(PKD1):c.9077G>A (p.Arg3026Gln)
NM_001009944.3(PKD1):c.9119A>C (p.Gln3040Pro) rs2092136027
NM_001009944.3(PKD1):c.9143T>G (p.Leu3048Arg) rs1596522098
NM_001009944.3(PKD1):c.9155G>T (p.Gly3052Val) rs769436046
NM_001009944.3(PKD1):c.9201+5G>A rs1596521826
NM_001009944.3(PKD1):c.9239C>G (p.Thr3080Arg) rs1322954391
NM_001009944.3(PKD1):c.9296A>T (p.Asp3099Val) rs1567173808
NM_001009944.3(PKD1):c.9331T>A (p.Phe3111Ile) rs767845814
NM_001009944.3(PKD1):c.9377C>T (p.Thr3126Ile) rs1567173560
NM_001009944.3(PKD1):c.9382T>A (p.Trp3128Arg)
NM_001009944.3(PKD1):c.9395C>T (p.Ser3132Leu) rs2092119222
NM_001009944.3(PKD1):c.9397+3G>C rs1555450109
NM_001009944.3(PKD1):c.9397G>T (p.Gly3133Cys)
NM_001009944.3(PKD1):c.9401C>T (p.Thr3134Ile) rs2092053154
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met) rs1555449635
NM_001009944.3(PKD1):c.9412G>T (p.Val3138Leu) rs1358566538
NM_001009944.3(PKD1):c.9425T>C (p.Leu3142Pro) rs2092051851
NM_001009944.3(PKD1):c.9428_9430dup (p.Tyr3143_Gly3144insAsp) rs2151742372
NM_001009944.3(PKD1):c.9430G>A (p.Gly3144Arg) rs1596515144
NM_001009944.3(PKD1):c.9443G>A (p.Arg3148Gln)
NM_001009944.3(PKD1):c.9445A>C (p.Ser3149Arg)
NM_001009944.3(PKD1):c.9458_9484inv (p.His3153_Arg3162delinsArgTrpLysAlaLeuSerProSerArgCys)
NM_001009944.3(PKD1):c.9494T>C (p.Leu3165Pro) rs1555449597
NM_001009944.3(PKD1):c.9502T>G (p.Phe3168Val) rs2151742081
NM_001009944.3(PKD1):c.9530G>A (p.Gly3177Asp)
NM_001009944.3(PKD1):c.9575G>T (p.Ser3192Ile) rs2092040135
NM_001009944.3(PKD1):c.9598G>T (p.Val3200Phe) rs1422698524
NM_001009944.3(PKD1):c.9601_9603del (p.Ile3201del) rs1394021424
NM_001009944.3(PKD1):c.9602_9607del (p.Ile3201_Val3202del)
NM_001009944.3(PKD1):c.9611A>C (p.Asp3204Ala) rs1596513913
NM_001009944.3(PKD1):c.9634_9635delinsGC (p.Phe3212Ala) rs1085307551
NM_001009944.3(PKD1):c.9637T>A (p.Phe3213Ile) rs2151740841
NM_001009944.3(PKD1):c.9694A>G (p.Lys3232Glu) rs2092034761
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys) rs1232180956
NM_001009944.3(PKD1):c.9767G>T (p.Gly3256Val) rs1596512954
NM_001009944.3(PKD1):c.9827C>T (p.Thr3276Ile)
NM_001009944.3(PKD1):c.9847T>C (p.Cys3283Arg) rs2092021242
NM_001009944.3(PKD1):c.9881C>A (p.Ala3294Asp) rs1596512512
NM_001009944.3(PKD1):c.9889G>A (p.Val3297Met) rs775497330
NM_001009944.3(PKD1):c.9991G>A (p.Val3331Met) rs541894980

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