ClinVar Miner

List of variants in gene PKD1 reported as uncertain significance by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 272
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481 0.00222
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe) rs139945204 0.00125
NM_001009944.3(PKD1):c.74G>T (p.Gly25Val) rs972049140 0.00046
NM_001009944.3(PKD1):c.10043G>A (p.Arg3348Gln) rs146494724 0.00044
NM_001009944.3(PKD1):c.11675G>A (p.Arg3892His) rs748887038 0.00036
NM_001009944.3(PKD1):c.8017G>C (p.Gly2673Arg) rs563412045 0.00032
NM_001009944.3(PKD1):c.7258A>G (p.Thr2420Ala) rs141293772 0.00030
NM_001009944.3(PKD1):c.776G>A (p.Cys259Tyr) rs529066905 0.00024
NM_001009944.3(PKD1):c.4270A>G (p.Thr1424Ala) rs2239671 0.00023
NM_001009944.3(PKD1):c.4052G>A (p.Arg1351Gln) rs374129201 0.00022
NM_001009944.3(PKD1):c.7316G>A (p.Arg2439Gln) rs201021499 0.00021
NM_001009944.3(PKD1):c.8395G>A (p.Ala2799Thr) rs554089372 0.00021
NM_001009944.3(PKD1):c.7430G>A (p.Arg2477His) rs556618384 0.00020
NM_001009944.3(PKD1):c.1376G>A (p.Arg459Gln) rs776837561 0.00019
NM_001009944.3(PKD1):c.8294G>A (p.Arg2765His) rs375198888 0.00018
NM_001009944.3(PKD1):c.9740G>A (p.Arg3247His) rs140791671 0.00018
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.1967T>A (p.Leu656Gln) rs759950842 0.00016
NM_001009944.3(PKD1):c.4759C>T (p.Arg1587Cys) rs773407492 0.00016
NM_001009944.3(PKD1):c.7480G>A (p.Glu2494Lys) rs765009165 0.00016
NM_001009944.3(PKD1):c.7241C>T (p.Thr2414Met) rs201267349 0.00015
NM_001009944.3(PKD1):c.1758A>C (p.Glu586Asp) rs766424461 0.00014
NM_001009944.3(PKD1):c.7340C>T (p.Thr2447Met) rs760315179 0.00014
NM_001009944.3(PKD1):c.11957C>T (p.Ala3986Val) rs528213425 0.00012
NM_001009944.3(PKD1):c.5704G>A (p.Gly1902Arg) rs370479407 0.00011
NM_001009944.3(PKD1):c.8611G>A (p.Ala2871Thr) rs556305338 0.00011
NM_001009944.3(PKD1):c.8914G>A (p.Asp2972Asn) rs150189496 0.00011
NM_001009944.3(PKD1):c.3854G>A (p.Arg1285Gln) rs368189158 0.00010
NM_001009944.3(PKD1):c.10099A>G (p.Ile3367Val) rs773989174 0.00009
NM_001009944.3(PKD1):c.12473T>C (p.Met4158Thr) rs201035636 0.00009
NM_001009944.3(PKD1):c.3409G>A (p.Val1137Ile) rs375354209 0.00009
NM_001009944.3(PKD1):c.8590G>A (p.Glu2864Lys) rs374629549 0.00009
NM_001009944.3(PKD1):c.9035C>T (p.Thr3012Met) rs376160782 0.00009
NM_001009944.3(PKD1):c.12089C>T (p.Thr4030Ile) rs751776839 0.00008
NM_001009944.3(PKD1):c.8372G>A (p.Arg2791Gln) rs367746233 0.00008
NM_001009944.3(PKD1):c.12569C>T (p.Ser4190Phe) rs547854563 0.00007
NM_001009944.3(PKD1):c.7567G>A (p.Glu2523Lys) rs554493059 0.00007
NM_001009944.3(PKD1):c.1001C>T (p.Thr334Met) rs4018169 0.00005
NM_001009944.3(PKD1):c.12803C>T (p.Pro4268Leu) rs767385060 0.00005
NM_001009944.3(PKD1):c.2183A>G (p.His728Arg) rs1050939771 0.00005
NM_001009944.3(PKD1):c.5431G>A (p.Glu1811Lys) rs778028644 0.00005
NM_001009944.3(PKD1):c.5571G>A (p.Pro1857=) rs564598290 0.00005
NM_001009944.3(PKD1):c.5933A>G (p.Asn1978Ser) rs373707925 0.00005
NM_001009944.3(PKD1):c.6227C>T (p.Ser2076Leu) rs758919000 0.00005
NM_001009944.3(PKD1):c.6299C>T (p.Ser2100Leu) rs539793378 0.00005
NM_001009944.3(PKD1):c.8791G>A (p.Gly2931Ser) rs142733588 0.00005
NM_001009944.3(PKD1):c.997G>A (p.Val333Met) rs772316684 0.00005
NM_001009944.3(PKD1):c.5746G>C (p.Ala1916Pro) rs773527738 0.00004
NM_001009944.3(PKD1):c.6048C>G (p.Asp2016Glu) rs767363184 0.00004
NM_001009944.3(PKD1):c.9631G>A (p.Ala3211Thr) rs533152302 0.00004
NM_001009944.3(PKD1):c.16C>T (p.Pro6Ser) rs1320256969 0.00003
NM_001009944.3(PKD1):c.2243C>T (p.Ser748Leu) rs761540024 0.00003
NM_001009944.3(PKD1):c.226C>T (p.His76Tyr) rs932577597 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.401C>T (p.Ala134Val) rs1296786347 0.00003
NM_001009944.3(PKD1):c.4091G>A (p.Arg1364His) rs529410704 0.00003
NM_001009944.3(PKD1):c.4122C>G (p.Ile1374Met) rs757456211 0.00003
NM_001009944.3(PKD1):c.5699C>T (p.Ala1900Val) rs140902597 0.00003
NM_001009944.3(PKD1):c.6230C>T (p.Ala2077Val) rs142493877 0.00003
NM_001009944.3(PKD1):c.6285C>A (p.Asp2095Glu) rs765861287 0.00003
NM_001009944.3(PKD1):c.664G>A (p.Ala222Thr) rs1391867937 0.00003
NM_001009944.3(PKD1):c.9199C>T (p.Pro3067Ser) rs1211697062 0.00003
NM_001009944.3(PKD1):c.9454C>T (p.Arg3152Trp) rs776866974 0.00003
NM_001009944.3(PKD1):c.9598G>A (p.Val3200Ile) rs1422698524 0.00003
NM_001009944.3(PKD1):c.9707C>T (p.Ala3236Val) rs779137772 0.00003
NM_001009944.3(PKD1):c.10652C>T (p.Pro3551Leu) rs779271659 0.00002
NM_001009944.3(PKD1):c.11677C>T (p.Leu3893Phe) rs973293202 0.00002
NM_001009944.3(PKD1):c.12415C>T (p.Leu4139Phe) rs373984948 0.00002
NM_001009944.3(PKD1):c.2602G>A (p.Ala868Thr) rs769711984 0.00002
NM_001009944.3(PKD1):c.3725C>T (p.Thr1242Met) rs1033550407 0.00002
NM_001009944.3(PKD1):c.3736G>A (p.Asp1246Asn) rs553360241 0.00002
NM_001009944.3(PKD1):c.6065C>T (p.Ser2022Leu) rs781681199 0.00002
NM_001009944.3(PKD1):c.6361C>T (p.Arg2121Cys) rs544427622 0.00002
NM_001009944.3(PKD1):c.8330C>T (p.Ala2777Val) rs755760795 0.00002
NM_001009944.3(PKD1):c.10033C>T (p.Arg3345Trp) rs986431548 0.00001
NM_001009944.3(PKD1):c.10064C>T (p.Pro3355Leu) rs781263445 0.00001
NM_001009944.3(PKD1):c.10690C>T (p.Leu3564Phe) rs138571055 0.00001
NM_001009944.3(PKD1):c.10903G>C (p.Ala3635Pro) rs1166642512 0.00001
NM_001009944.3(PKD1):c.10904C>A (p.Ala3635Asp) rs748561600 0.00001
NM_001009944.3(PKD1):c.11396C>T (p.Ala3799Val) rs371394349 0.00001
NM_001009944.3(PKD1):c.1304A>G (p.Gln435Arg) rs1426435123 0.00001
NM_001009944.3(PKD1):c.2993C>T (p.Ala998Val) rs1393997103 0.00001
NM_001009944.3(PKD1):c.3145G>A (p.Val1049Met) rs182938045 0.00001
NM_001009944.3(PKD1):c.3286G>A (p.Ala1096Thr) rs1307673492 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.3697G>A (p.Ala1233Thr) rs752993263 0.00001
NM_001009944.3(PKD1):c.4191G>T (p.Glu1397Asp) rs1356967038 0.00001
NM_001009944.3(PKD1):c.6557G>A (p.Arg2186His) rs1046305889 0.00001
NM_001009944.3(PKD1):c.6764G>A (p.Arg2255His) rs538164729 0.00001
NM_001009944.3(PKD1):c.7064C>T (p.Thr2355Met) rs758620810 0.00001
NM_001009944.3(PKD1):c.7175G>A (p.Arg2392His) rs761828545 0.00001
NM_001009944.3(PKD1):c.8048G>C (p.Cys2683Ser) rs773445757 0.00001
NM_001009944.3(PKD1):c.8062C>G (p.Leu2688Val) rs538493647 0.00001
NM_001009944.3(PKD1):c.8302G>A (p.Val2768Met) rs1456510041 0.00001
NM_001009944.3(PKD1):c.848C>T (p.Pro283Leu) rs1433099539 0.00001
NM_001009944.3(PKD1):c.8998C>T (p.Arg3000Cys) rs1279596250 0.00001
NM_001009944.3(PKD1):c.9485G>A (p.Arg3162His) rs1189208643 0.00001
NM_001009944.3(PKD1):c.9571C>T (p.Leu3191Phe) rs760095634 0.00001
NM_001009944.3(PKD1):c.9577C>G (p.Pro3193Ala) rs1296940235 0.00001
NM_001009944.3(PKD1):c.10291G>T (p.Gly3431Cys) rs1289793709
NM_001009944.3(PKD1):c.10574G>T (p.Gly3525Val) rs114523369
NM_001009944.3(PKD1):c.10642C>T (p.Arg3548Cys)
NM_001009944.3(PKD1):c.10720G>A (p.Gly3574Arg)
NM_001009944.3(PKD1):c.10871C>T (p.Pro3624Leu) rs764059379
NM_001009944.3(PKD1):c.10950delinsGTGG (p.His3650delinsGlnTrp)
NM_001009944.3(PKD1):c.10969G>A (p.Ala3657Thr) rs2544646708
NM_001009944.3(PKD1):c.10990G>A (p.Val3664Ile) rs112970540
NM_001009944.3(PKD1):c.11017-6C>G rs2544639635
NM_001009944.3(PKD1):c.11036T>A (p.Leu3679His) rs2544639255
NM_001009944.3(PKD1):c.11099_11101dup (p.Arg3700_Leu3701insArg) rs2544638455
NM_001009944.3(PKD1):c.11248C>T (p.Arg3750Trp) rs1356378120
NM_001009944.3(PKD1):c.11278C>T (p.Pro3760Ser)
NM_001009944.3(PKD1):c.11411+5G>C
NM_001009944.3(PKD1):c.11425G>C (p.Gly3809Arg) rs1339698223
NM_001009944.3(PKD1):c.11426G>A (p.Gly3809Asp) rs2854584
NM_001009944.3(PKD1):c.11519A>C (p.His3840Pro) rs2544619758
NM_001009944.3(PKD1):c.1162G>T (p.Ala388Ser) rs772111757
NM_001009944.3(PKD1):c.11665G>T (p.Ala3889Ser) rs1300036375
NM_001009944.3(PKD1):c.11677C>G (p.Leu3893Val) rs973293202
NM_001009944.3(PKD1):c.11726T>G (p.Leu3909Arg)
NM_001009944.3(PKD1):c.11748G>A (p.Val3916=) rs2544600376
NM_001009944.3(PKD1):c.11944C>A (p.Gln3982Lys)
NM_001009944.3(PKD1):c.11960C>T (p.Ala3987Val) rs781622501
NM_001009944.3(PKD1):c.12067C>G (p.Leu4023Val) rs746392681
NM_001009944.3(PKD1):c.12085G>A (p.Val4029Ile)
NM_001009944.3(PKD1):c.1211C>G (p.Pro404Arg) rs767579073
NM_001009944.3(PKD1):c.12138+5G>C rs2544591577
NM_001009944.3(PKD1):c.12230C>T (p.Ala4077Val) rs779478596
NM_001009944.3(PKD1):c.1230G>A (p.Thr410=)
NM_001009944.3(PKD1):c.12316C>T (p.Leu4106Phe)
NM_001009944.3(PKD1):c.12326G>A (p.Arg4109His)
NM_001009944.3(PKD1):c.12329A>T (p.Tyr4110Phe)
NM_001009944.3(PKD1):c.12340C>T (p.Arg4114Cys)
NM_001009944.3(PKD1):c.12418_12429del (p.Trp4140_Leu4143del) rs2544584336
NM_001009944.3(PKD1):c.12425G>T (p.Gly4142Val) rs757407982
NM_001009944.3(PKD1):c.12439A>G (p.Lys4147Glu) rs2544584169
NM_001009944.3(PKD1):c.12442G>C (p.Glu4148Gln)
NM_001009944.3(PKD1):c.1247A>T (p.Asn416Ile) rs2544876338
NM_001009944.3(PKD1):c.12517C>T (p.Pro4173Ser) rs747648573
NM_001009944.3(PKD1):c.12607C>T (p.Arg4203Trp)
NM_001009944.3(PKD1):c.12643C>T (p.Leu4215Phe) rs757068311
NM_001009944.3(PKD1):c.12679G>T (p.Asp4227Tyr) rs2544576994
NM_001009944.3(PKD1):c.12707T>G (p.Val4236Gly)
NM_001009944.3(PKD1):c.12844G>T (p.Asp4282Tyr) rs2544571392
NM_001009944.3(PKD1):c.12899C>T (p.Pro4300Leu) rs1429123436
NM_001009944.3(PKD1):c.1361G>C (p.Arg454Pro) rs1244006755
NM_001009944.3(PKD1):c.1364T>C (p.Phe455Ser) rs2544875788
NM_001009944.3(PKD1):c.1391T>C (p.Leu464Pro)
NM_001009944.3(PKD1):c.154T>C (p.Ser52Pro) rs2544960233
NM_001009944.3(PKD1):c.1591G>A (p.Glu531Lys) rs1567215326
NM_001009944.3(PKD1):c.1630CTC[1] (p.Leu545del) rs1596585121
NM_001009944.3(PKD1):c.1691_1692delinsTG (p.Asp564Val)
NM_001009944.3(PKD1):c.1729G>T (p.Val577Leu)
NM_001009944.3(PKD1):c.1816C>T (p.Arg606Trp) rs1256105528
NM_001009944.3(PKD1):c.1832G>A (p.Arg611Gln)
NM_001009944.3(PKD1):c.1948G>C (p.Ala650Pro)
NM_001009944.3(PKD1):c.2029G>A (p.Gly677Arg) rs770774357
NM_001009944.3(PKD1):c.2144T>C (p.Val715Ala)
NM_001009944.3(PKD1):c.216-8C>G rs1157566139
NM_001009944.3(PKD1):c.2371C>T (p.Arg791Trp)
NM_001009944.3(PKD1):c.2518A>G (p.Thr840Ala)
NM_001009944.3(PKD1):c.265A>G (p.Asn89Asp) rs1287585087
NM_001009944.3(PKD1):c.2695C>G (p.Leu899Val)
NM_001009944.3(PKD1):c.2732TGG[2] (p.Val913del)
NM_001009944.3(PKD1):c.2756G>A (p.Arg919Gln)
NM_001009944.3(PKD1):c.2779A>G (p.Thr927Ala)
NM_001009944.3(PKD1):c.2853+5G>A
NM_001009944.3(PKD1):c.285G>C (p.Glu95Asp)
NM_001009944.3(PKD1):c.296G>T (p.Ser99Ile) rs1567219544
NM_001009944.3(PKD1):c.2985_2985+3del rs1382386686
NM_001009944.3(PKD1):c.2992G>C (p.Ala998Pro) rs2092557509
NM_001009944.3(PKD1):c.3036C>T (p.Thr1012=)
NM_001009944.3(PKD1):c.3077C>T (p.Thr1026Ile)
NM_001009944.3(PKD1):c.3237C>G (p.Asp1079Glu) rs775658790
NM_001009944.3(PKD1):c.3241T>C (p.Ser1081Pro) rs771477931
NM_001009944.3(PKD1):c.3292C>A (p.Pro1098Thr) rs1348467197
NM_001009944.3(PKD1):c.335C>T (p.Ala112Val)
NM_001009944.3(PKD1):c.3490G>A (p.Gly1164Arg) rs2151801188
NM_001009944.3(PKD1):c.3524C>T (p.Pro1175Leu)
NM_001009944.3(PKD1):c.3548C>T (p.Ser1183Leu) rs551162125
NM_001009944.3(PKD1):c.3613G>C (p.Asp1205His)
NM_001009944.3(PKD1):c.3729G>T (p.Trp1243Cys) rs2092501936
NM_001009944.3(PKD1):c.3741G>C (p.Met1247Ile)
NM_001009944.3(PKD1):c.3752C>G (p.Thr1251Ser)
NM_001009944.3(PKD1):c.3779T>G (p.Val1260Gly)
NM_001009944.3(PKD1):c.3785A>G (p.His1262Arg) rs1057518976
NM_001009944.3(PKD1):c.3830C>T (p.Ala1277Val)
NM_001009944.3(PKD1):c.3881T>C (p.Leu1294Pro) rs749430418
NM_001009944.3(PKD1):c.3903_3926del (p.Ala1302_Pro1309del) rs2544826659
NM_001009944.3(PKD1):c.3977T>C (p.Phe1326Ser) rs2092493397
NM_001009944.3(PKD1):c.4307G>A (p.Arg1436Gln) rs773102552
NM_001009944.3(PKD1):c.4475G>A (p.Arg1492His) rs757055929
NM_001009944.3(PKD1):c.4475G>C (p.Arg1492Pro) rs757055929
NM_001009944.3(PKD1):c.4525G>A (p.Glu1509Lys)
NM_001009944.3(PKD1):c.4538T>G (p.Val1513Gly)
NM_001009944.3(PKD1):c.4590G>C (p.Trp1530Cys) rs996127355
NM_001009944.3(PKD1):c.4631T>G (p.Val1544Gly) rs1555455904
NM_001009944.3(PKD1):c.4645C>T (p.Arg1549Trp)
NM_001009944.3(PKD1):c.4675GTG[1] (p.Val1560del) rs2544819483
NM_001009944.3(PKD1):c.4999A>G (p.Thr1667Ala)
NM_001009944.3(PKD1):c.5024C>T (p.Ala1675Val)
NM_001009944.3(PKD1):c.5168T>G (p.Val1723Gly) rs890082891
NM_001009944.3(PKD1):c.5219C>T (p.Ala1740Val) rs2544813911
NM_001009944.3(PKD1):c.5332_5333delinsACCCGGCCCCACACCCGGCC (p.Leu1778delinsThrArgProHisThrArgPro) rs2544813080
NM_001009944.3(PKD1):c.5495G>T (p.Gly1832Val) rs2544812034
NM_001009944.3(PKD1):c.5984G>C (p.Arg1995Pro) rs752388015
NM_001009944.3(PKD1):c.6089C>A (p.Pro2030His) rs2544806086
NM_001009944.3(PKD1):c.6113T>A (p.Ile2038Asn) rs2544805859
NM_001009944.3(PKD1):c.6130A>G (p.Asn2044Asp) rs2544805632
NM_001009944.3(PKD1):c.6173A>C (p.Gln2058Pro) rs746817602
NM_001009944.3(PKD1):c.6341A>G (p.Tyr2114Cys) rs2092427197
NM_001009944.3(PKD1):c.6392G>T (p.Ser2131Ile) rs2544803423
NM_001009944.3(PKD1):c.641G>A (p.Cys214Tyr) rs1596590574
NM_001009944.3(PKD1):c.6506T>C (p.Leu2169Ser) rs2151787641
NM_001009944.3(PKD1):c.6526C>T (p.Arg2176Cys)
NM_001009944.3(PKD1):c.6589C>T (p.Arg2197Trp) rs771638566
NM_001009944.3(PKD1):c.6613G>A (p.Ala2205Thr)
NM_001009944.3(PKD1):c.6649G>C (p.Val2217Leu) rs2092418622
NM_001009944.3(PKD1):c.664G>C (p.Ala222Pro)
NM_001009944.3(PKD1):c.6671C>T (p.Pro2224Leu) rs755220551
NM_001009944.3(PKD1):c.6676G>C (p.Gly2226Arg) rs2544801237
NM_001009944.3(PKD1):c.6680A>C (p.His2227Pro) rs766836544
NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del) rs1596550396
NM_001009944.3(PKD1):c.6797G>C (p.Arg2266Pro)
NM_001009944.3(PKD1):c.7061A>G (p.Gln2354Arg) rs2092400132
NM_001009944.3(PKD1):c.7319A>G (p.Asp2440Gly) rs2544781474
NM_001009944.3(PKD1):c.7343T>C (p.Leu2448Pro)
NM_001009944.3(PKD1):c.7394_7408dup (p.Arg2469_Pro2470insLeuSerProAsnArg)
NM_001009944.3(PKD1):c.7409C>A (p.Pro2470Gln) rs539143745
NM_001009944.3(PKD1):c.7409C>T (p.Pro2470Leu) rs539143745
NM_001009944.3(PKD1):c.7411C>A (p.Pro2471Thr) rs2151774021
NM_001009944.3(PKD1):c.7457C>T (p.Ala2486Val) rs547751652
NM_001009944.3(PKD1):c.7489+5G>A rs2092337963
NM_001009944.3(PKD1):c.7544G>A (p.Arg2515Gln)
NM_001009944.3(PKD1):c.7553G>A (p.Arg2518His) rs781066020
NM_001009944.3(PKD1):c.7657G>T (p.Val2553Leu) rs750616566
NM_001009944.3(PKD1):c.7762C>G (p.Leu2588Val) rs1168835336
NM_001009944.3(PKD1):c.7829A>C (p.Glu2610Ala) rs768882400
NM_001009944.3(PKD1):c.7864-43_7864-16del rs2544770460
NM_001009944.3(PKD1):c.8034C>G (p.Leu2678=) rs574400883
NM_001009944.3(PKD1):c.8180C>T (p.Ala2727Val) rs746952322
NM_001009944.3(PKD1):c.8276T>C (p.Leu2759Pro) rs2544746151
NM_001009944.3(PKD1):c.8291T>A (p.Met2764Lys) rs1596527405
NM_001009944.3(PKD1):c.8363C>T (p.Ser2788Leu)
NM_001009944.3(PKD1):c.845G>A (p.Gly282Glu)
NM_001009944.3(PKD1):c.8530G>C (p.Val2844Leu) rs142888788
NM_001009944.3(PKD1):c.8594G>A (p.Arg2865Gln)
NM_001009944.3(PKD1):c.8680G>A (p.Ala2894Thr) rs568897373
NM_001009944.3(PKD1):c.8684A>C (p.Asn2895Thr) rs1219270797
NM_001009944.3(PKD1):c.8702C>T (p.Pro2901Leu) rs2092181383
NM_001009944.3(PKD1):c.8879_8880delinsTT (p.Ser2960Ile)
NM_001009944.3(PKD1):c.8929A>G (p.Thr2977Ala) rs760382745
NM_001009944.3(PKD1):c.8947G>T (p.Gly2983Trp)
NM_001009944.3(PKD1):c.8999G>C (p.Arg3000Pro) rs746460070
NM_001009944.3(PKD1):c.9113C>G (p.Pro3038Arg)
NM_001009944.3(PKD1):c.9115C>T (p.Arg3039Cys) rs200522524
NM_001009944.3(PKD1):c.9119A>C (p.Gln3040Pro) rs2092136027
NM_001009944.3(PKD1):c.9170T>G (p.Val3057Gly) rs758627119
NM_001009944.3(PKD1):c.932C>T (p.Ser311Phe)
NM_001009944.3(PKD1):c.9359A>G (p.Tyr3120Cys) rs2544730073
NM_001009944.3(PKD1):c.9578C>G (p.Pro3193Arg)
NM_001009944.3(PKD1):c.9632C>T (p.Ala3211Val) rs758715089
NM_001009944.3(PKD1):c.9647A>T (p.Asn3216Ile)
NM_001009944.3(PKD1):c.9656T>G (p.Leu3219Arg) rs2544715606
NM_001009944.3(PKD1):c.970C>T (p.Arg324Cys)
NM_001009944.3(PKD1):c.9788G>T (p.Trp3263Leu)
NM_001009944.3(PKD1):c.9830G>C (p.Arg3277Pro)
NM_001009944.3(PKD1):c.9884A>G (p.Asn3295Ser)
NM_001009944.3(PKD1):c.9982G>T (p.Val3328Leu)

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