ClinVar Miner

List of variants in gene PKD1 reported by Juno Genomics, Hangzhou Juno Genomics, Inc

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 298
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HGVS dbSNP gnomAD frequency
NM_001009944.3(PKD1):c.7100C>T (p.Ser2367Phe) rs771932172 0.00004
NM_001009944.3(PKD1):c.4049C>T (p.Thr1350Met) rs777460980 0.00003
NM_001009944.3(PKD1):c.4447C>T (p.Gln1483Ter) rs1567200098 0.00003
NM_001009944.3(PKD1):c.1198C>T (p.Arg400Ter) rs774453006 0.00001
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100 0.00001
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs) rs1555455457 0.00001
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp) rs752793757 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001009944.3(PKD1):c.9202-16G>A rs1389523126 0.00001
NM_001009944.3(PKD1):c.10012dup (p.Leu3338fs)
NM_001009944.3(PKD1):c.10084C>T (p.Gln3362Ter) rs1567166045
NM_001009944.3(PKD1):c.10087C>T (p.Gln3363Ter) rs2151729320
NM_001009944.3(PKD1):c.10167+25_10167+43del rs1197421698
NM_001009944.3(PKD1):c.10232G>A (p.Trp3411Ter)
NM_001009944.3(PKD1):c.10260_10279delinsAGCAGGT (p.Trp3420_Pro3427delinsTer)
NM_001009944.3(PKD1):c.10405+1G>T
NM_001009944.3(PKD1):c.10405G>C (p.Asp3469His)
NM_001009944.3(PKD1):c.10516del (p.Glu3506fs) rs2151710519
NM_001009944.3(PKD1):c.10524_10525insT (p.Glu3509Ter)
NM_001009944.3(PKD1):c.10527_10528del (p.Glu3509fs) rs1378307448
NM_001009944.3(PKD1):c.10594C>T (p.Gln3532Ter)
NM_001009944.3(PKD1):c.10594dup (p.Gln3532fs)
NM_001009944.3(PKD1):c.10619-2A>G rs2544652543
NM_001009944.3(PKD1):c.10803_10807del (p.Trp3603fs)
NM_001009944.3(PKD1):c.10807T>A (p.Trp3603Arg)
NM_001009944.3(PKD1):c.10817T>C (p.Leu3606Pro)
NM_001009944.3(PKD1):c.10822-2A>G rs2151707926
NM_001009944.3(PKD1):c.10834G>C (p.Ala3612Pro)
NM_001009944.3(PKD1):c.10951G>A (p.Gly3651Ser) rs2091705970
NM_001009944.3(PKD1):c.10966del (p.Leu3656fs) rs2544646762
NM_001009944.3(PKD1):c.11017-10C>A rs555703777
NM_001009944.3(PKD1):c.11156G>A (p.Arg3719Gln) rs1555446576
NM_001009944.3(PKD1):c.11257C>T (p.Arg3753Trp) rs1167476946
NM_001009944.3(PKD1):c.11270-1G>A rs2151700092
NM_001009944.3(PKD1):c.11277_11280dup (p.Asp3761fs)
NM_001009944.3(PKD1):c.11314del (p.Ala3772fs) rs1555446033
NM_001009944.3(PKD1):c.11352_11355del (p.Trp3785fs)
NM_001009944.3(PKD1):c.11354G>A (p.Trp3785Ter)
NM_001009944.3(PKD1):c.11359_11370del (p.Ser3787_Asn3790del)
NM_001009944.3(PKD1):c.11375C>A (p.Ser3792Ter) rs770667157
NM_001009944.3(PKD1):c.11379del (p.Thr3794fs) rs1567153758
NM_001009944.3(PKD1):c.11379dup (p.Thr3794fs)
NM_001009944.3(PKD1):c.11411+1G>T
NM_001009944.3(PKD1):c.11411+5_11411+38delinsAGGG
NM_001009944.3(PKD1):c.11421dup (p.Trp3808fs)
NM_001009944.3(PKD1):c.11441_11459dup (p.Val3820_Gln3821insTer)
NM_001009944.3(PKD1):c.11452G>C (p.Gly3818Arg)
NM_001009944.3(PKD1):c.11461C>T (p.Gln3821Ter) rs1325300747
NM_001009944.3(PKD1):c.11482GAG[1] (p.Glu3829del) rs1596481630
NM_001009944.3(PKD1):c.11528dup (p.Asp3844fs)
NM_001009944.3(PKD1):c.11558A>G (p.Glu3853Gly)
NM_001009944.3(PKD1):c.11583_11594dup (p.Ala3865_Ala3866insGlyLeuHisAla)
NM_001009944.3(PKD1):c.11586dup (p.Leu3863fs)
NM_001009944.3(PKD1):c.11609G>C (p.Arg3870Pro)
NM_001009944.3(PKD1):c.11635_11649dup (p.Leu3883_Ser3884insAlaLeuAlaAlaLeu)
NM_001009944.3(PKD1):c.11711C>A (p.Ser3904Ter)
NM_001009944.3(PKD1):c.11716dup (p.Cys3906fs)
NM_001009944.3(PKD1):c.11720T>G (p.Leu3907Arg)
NM_001009944.3(PKD1):c.117C>A (p.Cys39Ter)
NM_001009944.3(PKD1):c.11814del (p.Trp3939fs)
NM_001009944.3(PKD1):c.1189G>T (p.Glu397Ter)
NM_001009944.3(PKD1):c.11913_11916dup (p.Arg3973fs)
NM_001009944.3(PKD1):c.12010C>T (p.Gln4004Ter) rs766551411
NM_001009944.3(PKD1):c.12029G>T (p.Arg4010Leu)
NM_001009944.3(PKD1):c.12031C>T (p.Gln4011Ter) rs1555444985
NM_001009944.3(PKD1):c.12056_12058del (p.Leu4019del)
NM_001009944.3(PKD1):c.12061C>T (p.Arg4021Ter) rs764431330
NM_001009944.3(PKD1):c.12124C>T (p.Gln4042Ter) rs199476094
NM_001009944.3(PKD1):c.12215_12216del (p.Ser4072fs) rs2544588372
NM_001009944.3(PKD1):c.12230_12239del (p.Ala4077fs) rs1555444715
NM_001009944.3(PKD1):c.12237dup (p.Trp4080fs)
NM_001009944.3(PKD1):c.12252_12253del (p.Leu4085fs)
NM_001009944.3(PKD1):c.12267del (p.Leu4090fs) rs2544587268
NM_001009944.3(PKD1):c.12273G>A (p.Trp4091Ter)
NM_001009944.3(PKD1):c.12290dup (p.Ala4098fs)
NM_001009944.3(PKD1):c.12373C>T (p.Gln4125Ter) rs2091437893
NM_001009944.3(PKD1):c.12393GTT[1] (p.Leu4132del)
NM_001009944.3(PKD1):c.12449G>A (p.Arg4150His) rs36221080
NM_001009944.3(PKD1):c.12464T>G (p.Phe4155Cys)
NM_001009944.3(PKD1):c.12489dup (p.Arg4164fs)
NM_001009944.3(PKD1):c.1251del (p.His418fs)
NM_001009944.3(PKD1):c.12577C>T (p.Gln4193Ter) rs2544579185
NM_001009944.3(PKD1):c.12609del (p.Leu4204fs)
NM_001009944.3(PKD1):c.12646C>T (p.Gln4216Ter)
NM_001009944.3(PKD1):c.12682C>T (p.Arg4228Ter) rs199476095
NM_001009944.3(PKD1):c.12691C>T (p.Gln4231Ter) rs755496450
NM_001009944.3(PKD1):c.12712C>T (p.Gln4238Ter) rs1045675831
NM_001009944.3(PKD1):c.12716_12724del (p.Leu4239_Gln4241del)
NM_001009944.3(PKD1):c.12725_12756del (p.Gln4242fs)
NM_001009944.3(PKD1):c.1331T>G (p.Leu444Arg)
NM_001009944.3(PKD1):c.1357C>T (p.Gln453Ter)
NM_001009944.3(PKD1):c.1396G>A (p.Val466Met) rs2855341
NM_001009944.3(PKD1):c.1418_1419del (p.Val473fs) rs2151820943
NM_001009944.3(PKD1):c.1420C>T (p.Gln474Ter) rs1567215646
NM_001009944.3(PKD1):c.1442_1445dup (p.Gln483fs)
NM_001009944.3(PKD1):c.1528_1546del (p.Arg510fs)
NM_001009944.3(PKD1):c.15_31del (p.Pro6fs)
NM_001009944.3(PKD1):c.1606+1G>A rs2151820539
NM_001009944.3(PKD1):c.1606+1G>T
NM_001009944.3(PKD1):c.160_166dup (p.Leu56fs)
NM_001009944.3(PKD1):c.1658_1667dup (p.Leu557fs)
NM_001009944.3(PKD1):c.165_171dup (p.Thr58fs)
NM_001009944.3(PKD1):c.1684C>T (p.Gln562Ter)
NM_001009944.3(PKD1):c.1827G>A (p.Val609=) rs905577227
NM_001009944.3(PKD1):c.1907_1916dup (p.Cys640fs)
NM_001009944.3(PKD1):c.1938G>A (p.Trp646Ter)
NM_001009944.3(PKD1):c.2038del (p.Tyr680fs) rs1448641464
NM_001009944.3(PKD1):c.2085dup (p.Ala696fs) rs1567212531
NM_001009944.3(PKD1):c.2089C>T (p.Gln697Ter) rs2151816083
NM_001009944.3(PKD1):c.2096del (p.Ser699fs)
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro) rs1616940
NM_001009944.3(PKD1):c.2180_2182del (p.Leu727del)
NM_001009944.3(PKD1):c.2210del (p.Gly737fs)
NM_001009944.3(PKD1):c.2232del (p.Ala745fs)
NM_001009944.3(PKD1):c.231C>A (p.Asn77Lys)
NM_001009944.3(PKD1):c.2401_2410dup (p.Asn804fs)
NM_001009944.3(PKD1):c.2563del (p.Ala855fs)
NM_001009944.3(PKD1):c.2618_2621del (p.Val873fs) rs1596575646
NM_001009944.3(PKD1):c.2659del (p.Trp887fs) rs2092593850
NM_001009944.3(PKD1):c.2684C>G (p.Ser895Ter)
NM_001009944.3(PKD1):c.2732_2753dup (p.Arg919fs)
NM_001009944.3(PKD1):c.2842_2843delinsC (p.Gly948fs)
NM_001009944.3(PKD1):c.2911_2914dup (p.Lys972fs)
NM_001009944.3(PKD1):c.2917C>T (p.Gln973Ter)
NM_001009944.3(PKD1):c.2985+2_2985+4del
NM_001009944.3(PKD1):c.2985+3A>C
NM_001009944.3(PKD1):c.2T>A (p.Met1Lys)
NM_001009944.3(PKD1):c.3067C>T (p.Gln1023Ter) rs2092555939
NM_001009944.3(PKD1):c.3161+6T>G
NM_001009944.3(PKD1):c.3202C>T (p.Gln1068Ter) rs2092538738
NM_001009944.3(PKD1):c.3217_3218insTTCGG (p.Glu1073fs)
NM_001009944.3(PKD1):c.3242C>A (p.Ser1081Ter)
NM_001009944.3(PKD1):c.3268_3270del (p.Asn1090del)
NM_001009944.3(PKD1):c.3268_3276dup (p.Met1092_His1093insAsnValMet)
NM_001009944.3(PKD1):c.3349C>T (p.Gln1117Ter) rs755084885
NM_001009944.3(PKD1):c.3520C>T (p.Gln1174Ter) rs1057518899
NM_001009944.3(PKD1):c.359T>C (p.Ile120Thr) rs1555459345
NM_001009944.3(PKD1):c.3600_3608delinsC (p.Ala1201fs)
NM_001009944.3(PKD1):c.3640G>T (p.Gly1214Ter)
NM_001009944.3(PKD1):c.3665_3684delinsACATGA (p.Ala1222fs)
NM_001009944.3(PKD1):c.3665_3684delinsAGTACA (p.Ala1222fs)
NM_001009944.3(PKD1):c.3666del (p.Val1223fs)
NM_001009944.3(PKD1):c.3860T>C (p.Leu1287Pro) rs2544827223
NM_001009944.3(PKD1):c.3890_3891insCAC (p.Leu1297_Arg1298insThr) rs1567202189
NM_001009944.3(PKD1):c.393_394del (p.Cys131fs)
NM_001009944.3(PKD1):c.3948del (p.Ala1315_Tyr1316insTer)
NM_001009944.3(PKD1):c.3955G>A (p.Gly1319Arg) rs747362311
NM_001009944.3(PKD1):c.3972C>A (p.Tyr1324Ter)
NM_001009944.3(PKD1):c.4076T>C (p.Leu1359Pro) rs2544825186
NM_001009944.3(PKD1):c.4082T>C (p.Leu1361Pro) rs2092490160
NM_001009944.3(PKD1):c.4156C>T (p.Gln1386Ter)
NM_001009944.3(PKD1):c.4165_4166del (p.Arg1389fs) rs1555456208
NM_001009944.3(PKD1):c.416G>A (p.Trp139Ter) rs2544883158
NM_001009944.3(PKD1):c.4220dup (p.Phe1408fs)
NM_001009944.3(PKD1):c.4303T>G (p.Tyr1435Asp)
NM_001009944.3(PKD1):c.4306C>T (p.Arg1436Ter) rs1567200516
NM_001009944.3(PKD1):c.4346ACA[1] (p.Asn1450del) rs2092482302
NM_001009944.3(PKD1):c.436C>G (p.Arg146Gly)
NM_001009944.3(PKD1):c.439del (p.Val147fs)
NM_001009944.3(PKD1):c.4499G>A (p.Trp1500Ter)
NM_001009944.3(PKD1):c.4534G>T (p.Glu1512Ter)
NM_001009944.3(PKD1):c.4543C>G (p.His1515Asp)
NM_001009944.3(PKD1):c.4625_4626del (p.Val1542fs)
NM_001009944.3(PKD1):c.4639dup (p.Arg1547fs)
NM_001009944.3(PKD1):c.4797C>A (p.Tyr1599Ter) rs202110519
NM_001009944.3(PKD1):c.4896dup (p.Glu1633fs)
NM_001009944.3(PKD1):c.4919_4925dup (p.Tyr1643fs) rs2544817124
NM_001009944.3(PKD1):c.4996T>C (p.Trp1666Arg)
NM_001009944.3(PKD1):c.5179C>G (p.Pro1727Ala)
NM_001009944.3(PKD1):c.5213T>G (p.Leu1738Arg)
NM_001009944.3(PKD1):c.5482C>T (p.Gln1828Ter)
NM_001009944.3(PKD1):c.5516G>A (p.Trp1839Ter) rs2544811872
NM_001009944.3(PKD1):c.5644_5645del (p.Thr1882fs)
NM_001009944.3(PKD1):c.5764C>T (p.Gln1922Ter) rs199476101
NM_001009944.3(PKD1):c.5803del (p.Arg1935fs) rs2092443264
NM_001009944.3(PKD1):c.5976_5978del (p.Phe1992_Thr1993delinsLeu) rs2092438025
NM_001009944.3(PKD1):c.5995G>A (p.Gly1999Ser) rs2092437527
NM_001009944.3(PKD1):c.6083A>C (p.Tyr2028Ser)
NM_001009944.3(PKD1):c.6090del (p.Val2031fs)
NM_001009944.3(PKD1):c.6124_6125del (p.Ala2042fs)
NM_001009944.3(PKD1):c.6199C>T (p.Gln2067Ter) rs1555454604
NM_001009944.3(PKD1):c.6218_6220del (p.Thr2073del)
NM_001009944.3(PKD1):c.6232C>T (p.Gln2078Ter)
NM_001009944.3(PKD1):c.6261_6262del (p.Arg2088fs)
NM_001009944.3(PKD1):c.6298_6306del (p.Ser2100_Gly2102del)
NM_001009944.3(PKD1):c.6341_6344del (p.Ser2113_Tyr2114insTer)
NM_001009944.3(PKD1):c.6367C>T (p.Gln2123Ter) rs762911981
NM_001009944.3(PKD1):c.6383A>C (p.Asn2128Thr)
NM_001009944.3(PKD1):c.6469del (p.Leu2157fs)
NM_001009944.3(PKD1):c.6487C>T (p.Arg2163Ter) rs1555454411
NM_001009944.3(PKD1):c.6540del (p.Tyr2181fs)
NM_001009944.3(PKD1):c.6549_6550del (p.Glu2184fs)
NM_001009944.3(PKD1):c.6549dup (p.Glu2184Ter) rs1555454373
NM_001009944.3(PKD1):c.6562G>T (p.Glu2188Ter)
NM_001009944.3(PKD1):c.6574_6580del (p.Thr2192fs) rs2092420672
NM_001009944.3(PKD1):c.6583_6589del (p.Cys2195fs) rs1555454353
NM_001009944.3(PKD1):c.6629_6644dup (p.Leu2216fs)
NM_001009944.3(PKD1):c.6650_6664del (p.Val2217_Leu2221del)
NM_001009944.3(PKD1):c.6655_6663del (p.Pro2219_Leu2221del)
NM_001009944.3(PKD1):c.6657_6671del (p.Arg2220_Pro2224del) rs2151786683
NM_001009944.3(PKD1):c.6727_6728del (p.Gln2243fs) rs1567191601
NM_001009944.3(PKD1):c.6730_6731del (p.Ser2244fs) rs2151786400
NM_001009944.3(PKD1):c.6736C>T (p.Gln2246Ter) rs1567191534
NM_001009944.3(PKD1):c.673_674del (p.Ser225fs) rs2544880396
NM_001009944.3(PKD1):c.6759del (p.Glu2254fs) rs2544800556
NM_001009944.3(PKD1):c.6804G>A (p.Trp2268Ter)
NM_001009944.3(PKD1):c.6808_6811del (p.Asp2270fs)
NM_001009944.3(PKD1):c.6842C>T (p.Ser2281Phe)
NM_001009944.3(PKD1):c.6916-10C>A
NM_001009944.3(PKD1):c.6994_7000del (p.Ala2332fs) rs1555453872
NM_001009944.3(PKD1):c.6994_7000dup (p.Val2334fs) rs1555453872
NM_001009944.3(PKD1):c.7065+2_7065+4del
NM_001009944.3(PKD1):c.7067T>G (p.Val2356Gly) rs2544785366
NM_001009944.3(PKD1):c.7088_7095dup (p.Val2366fs)
NM_001009944.3(PKD1):c.7126C>T (p.Gln2376Ter) rs1555453395
NM_001009944.3(PKD1):c.7138G>T (p.Glu2380Ter) rs778386729
NM_001009944.3(PKD1):c.7177T>C (p.Cys2393Arg)
NM_001009944.3(PKD1):c.7204C>T (p.Arg2402Ter) rs1567186946
NM_001009944.3(PKD1):c.7236del (p.Asn2412fs)
NM_001009944.3(PKD1):c.7241del (p.Thr2414fs)
NM_001009944.3(PKD1):c.7288C>T (p.Arg2430Ter) rs2432403
NM_001009944.3(PKD1):c.7298T>G (p.Leu2433Arg)
NM_001009944.3(PKD1):c.7333_7359dup (p.Arg2453_Ser2454insThrPheThrLeuThrValLeuGlyArg)
NM_001009944.3(PKD1):c.7340del (p.Thr2447fs)
NM_001009944.3(PKD1):c.7346C>T (p.Thr2449Met)
NM_001009944.3(PKD1):c.7401dup (p.Asn2468fs)
NM_001009944.3(PKD1):c.7421dup (p.Ser2475fs)
NM_001009944.3(PKD1):c.7426T>A (p.Cys2476Ser)
NM_001009944.3(PKD1):c.7485C>A (p.Cys2495Ter)
NM_001009944.3(PKD1):c.7490-3C>G
NM_001009944.3(PKD1):c.750_751delinsA (p.Pro252fs)
NM_001009944.3(PKD1):c.755dup (p.Pro253fs) rs1352019198
NM_001009944.3(PKD1):c.7589G>A (p.Gly2530Asp)
NM_001009944.3(PKD1):c.7605C>A (p.Tyr2535Ter)
NM_001009944.3(PKD1):c.7625G>T (p.Gly2542Val)
NM_001009944.3(PKD1):c.7703+1G>A
NM_001009944.3(PKD1):c.7729C>T (p.Pro2577Ser)
NM_001009944.3(PKD1):c.7754_7755del (p.Thr2585fs)
NM_001009944.3(PKD1):c.7761G>A (p.Trp2587Ter)
NM_001009944.3(PKD1):c.7804C>T (p.Gln2602Ter) rs2092321430
NM_001009944.3(PKD1):c.7837_7839del (p.Leu2613del) rs2544775052
NM_001009944.3(PKD1):c.7915C>T (p.Arg2639Ter) rs750913623
NM_001009944.3(PKD1):c.8008C>T (p.Gln2670Ter) rs2092301272
NM_001009944.3(PKD1):c.8152_8156del (p.Asn2718fs)
NM_001009944.3(PKD1):c.8158dup (p.Thr2720fs)
NM_001009944.3(PKD1):c.8192_8193del (p.Val2731fs)
NM_001009944.3(PKD1):c.8201del (p.Pro2734fs)
NM_001009944.3(PKD1):c.823del (p.Ala275fs)
NM_001009944.3(PKD1):c.8284_8295dup (p.Ile2762_Arg2765dup) rs1596527370
NM_001009944.3(PKD1):c.8290_8293dup (p.Arg2765fs)
NM_001009944.3(PKD1):c.8300G>C (p.Arg2767Pro) rs770080914
NM_001009944.3(PKD1):c.8327_8330del (p.Leu2776fs)
NM_001009944.3(PKD1):c.8363C>A (p.Ser2788Ter)
NM_001009944.3(PKD1):c.8428G>T (p.Glu2810Ter) rs777608163
NM_001009944.3(PKD1):c.8443del (p.Ala2815fs)
NM_001009944.3(PKD1):c.8502del (p.Phe2836fs)
NM_001009944.3(PKD1):c.856_862del (p.Ser286_Gly287insTer) rs1555459108
NM_001009944.3(PKD1):c.8646G>A (p.Trp2882Ter)
NM_001009944.3(PKD1):c.8747del (p.Pro2916fs)
NM_001009944.3(PKD1):c.8756G>A (p.Gly2919Glu) rs1555450923
NM_001009944.3(PKD1):c.8792-2A>G
NM_001009944.3(PKD1):c.8803_8806del (p.Ser2935fs)
NM_001009944.3(PKD1):c.8842_8843del (p.Ser2948fs)
NM_001009944.3(PKD1):c.890dup (p.Leu298fs)
NM_001009944.3(PKD1):c.8960_8969del (p.Pro2987fs)
NM_001009944.3(PKD1):c.9097del (p.Leu3033fs)
NM_001009944.3(PKD1):c.9098del (p.Leu3033fs)
NM_001009944.3(PKD1):c.90C>A (p.Cys30Ter)
NM_001009944.3(PKD1):c.9122C>A (p.Ala3041Asp)
NM_001009944.3(PKD1):c.9146C>T (p.Thr3049Ile) rs2151749645
NM_001009944.3(PKD1):c.921del (p.Phe307fs)
NM_001009944.3(PKD1):c.9295G>C (p.Asp3099His)
NM_001009944.3(PKD1):c.9338G>A (p.Gly3113Glu)
NM_001009944.3(PKD1):c.9340C>T (p.Gln3114Ter) rs2544730146
NM_001009944.3(PKD1):c.9373A>T (p.Lys3125Ter)
NM_001009944.3(PKD1):c.9388_9393del (p.Arg3130_Gly3131del)
NM_001009944.3(PKD1):c.9397G>C (p.Gly3133Arg)
NM_001009944.3(PKD1):c.9398-2A>G rs2151742515
NM_001009944.3(PKD1):c.9404C>T (p.Thr3135Met) rs1555449635
NM_001009944.3(PKD1):c.9425T>C (p.Leu3142Pro) rs2092051851
NM_001009944.3(PKD1):c.9448G>A (p.Gly3150Ser)
NM_001009944.3(PKD1):c.9460C>G (p.Leu3154Val)
NM_001009944.3(PKD1):c.9521A>C (p.His3174Pro) rs769045618
NM_001009944.3(PKD1):c.9547C>T (p.Arg3183Ter) rs1485297878
NM_001009944.3(PKD1):c.9561CAA[1] (p.Asn3188del) rs869312944
NM_001009944.3(PKD1):c.9568G>C (p.Gly3190Arg)
NM_001009944.3(PKD1):c.9569-1G>T
NM_001009944.3(PKD1):c.960del (p.Ala321fs)
NM_001009944.3(PKD1):c.9647_9648del (p.Asn3216fs)
NM_001009944.3(PKD1):c.968_972del (p.His323fs)
NM_001009944.3(PKD1):c.9712+2T>G
NM_001009944.3(PKD1):c.974A>G (p.Tyr325Cys) rs1232180956
NM_001009944.3(PKD1):c.9782A>C (p.His3261Pro)
NM_001009944.3(PKD1):c.9852C>A (p.Cys3284Ter)
NM_001009944.3(PKD1):c.9856CTC[1] (p.Leu3287del) rs2092020811
NM_001009944.3(PKD1):c.9914_9915del (p.Ser3305fs) rs1567169638
NM_001009944.3(PKD1):c.9924-10_9924dup
NM_001009944.3(PKD1):c.9964dup (p.Thr3322fs)

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