ClinVar Miner

List of variants in gene PKD1L1 studied for not provided

Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 509
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HGVS dbSNP gnomAD frequency
NM_138295.5(PKD1L1):c.7173+31G>A rs6463449 0.98446
NM_138295.5(PKD1L1):c.3814A>G (p.Lys1272Glu) rs1470859 0.86841
NM_138295.5(PKD1L1):c.7963-33A>G rs1466203 0.84115
NM_138295.5(PKD1L1):c.519+207T>G rs939903 0.80725
NM_138295.5(PKD1L1):c.6736-284T>C rs7786516 0.74704
NM_138295.5(PKD1L1):c.1229-16A>G rs1474283 0.71820
NM_138295.5(PKD1L1):c.7827+166C>T rs1074780 0.71813
NM_138295.5(PKD1L1):c.6180T>C (p.Pro2060=) rs921634 0.71557
NM_138295.5(PKD1L1):c.5154-153G>T rs1980279 0.62559
NM_138295.5(PKD1L1):c.4859+154T>C rs13228166 0.60503
NM_138295.5(PKD1L1):c.4150-251C>T rs2053986 0.56184
NM_138295.5(PKD1L1):c.4150-268G>A rs2053987 0.55664
NM_138295.5(PKD1L1):c.4150-78G>A rs2123611 0.54728
NM_138295.5(PKD1L1):c.398+156T>C rs2708878 0.53843
NM_138295.5(PKD1L1):c.399-213G>A rs939904 0.53194
NM_138295.5(PKD1L1):c.286-127C>G rs60107343 0.52432
NM_138295.5(PKD1L1):c.161-8T>C rs2708913 0.52098
NM_138295.5(PKD1L1):c.477T>C (p.Cys159=) rs885337 0.50451
NM_138295.5(PKD1L1):c.934G>T (p.Val312Phe) rs2686817 0.50199
NM_138295.5(PKD1L1):c.2271+219G>A rs10499668 0.47090
NM_138295.5(PKD1L1):c.8194-66C>T rs6943728 0.43580
NM_138295.5(PKD1L1):c.3206-199C>T rs10464386 0.43207
NM_138295.5(PKD1L1):c.7347-263C>T rs2123608 0.41631
NM_138295.5(PKD1L1):c.4149+77C>T rs1554495 0.40788
NM_138295.5(PKD1L1):c.4961-38C>T rs10280228 0.40134
NM_138295.5(PKD1L1):c.5237+38T>C rs13237611 0.38615
NM_138295.5(PKD1L1):c.6174+240A>G rs11769398 0.37374
NM_138295.5(PKD1L1):c.3785-129T>C rs73105163 0.37286
NM_138295.5(PKD1L1):c.3896+38A>G rs62447062 0.37266
NM_138295.5(PKD1L1):c.6854+312A>C rs6968437 0.37240
NM_138295.5(PKD1L1):c.3784+297C>T rs3736548 0.37231
NM_138295.5(PKD1L1):c.3664-75G>A rs4724656 0.37226
NM_138295.5(PKD1L1):c.3784+44C>G rs4724654 0.37222
NM_138295.5(PKD1L1):c.3664-102T>C rs4724657 0.37220
NM_138295.5(PKD1L1):c.3784+265A>T rs3736549 0.37219
NM_138295.5(PKD1L1):c.3664-334T>G rs4724658 0.37214
NM_138295.5(PKD1L1):c.3784+18T>C rs4724655 0.37208
NM_138295.5(PKD1L1):c.3663+292C>T rs2881990 0.37155
NM_138295.5(PKD1L1):c.3663+317G>A rs2348659 0.37122
NM_138295.5(PKD1L1):c.3663+92A>G rs2348662 0.37097
NM_138295.5(PKD1L1):c.3663+127C>A rs2348661 0.36986
NM_138295.5(PKD1L1):c.3663+137T>A rs2348660 0.36978
NM_138295.5(PKD1L1):c.3520+28C>G rs17131896 0.36977
NM_138295.5(PKD1L1):c.3443-180C>G rs9691249 0.36926
NM_138295.5(PKD1L1):c.3443-80C>A rs79012260 0.36857
NM_138295.5(PKD1L1):c.3443-79T>C rs78574665 0.36853
NM_138295.5(PKD1L1):c.3501C>T (p.Tyr1167=) rs62447081 0.36755
NM_138295.5(PKD1L1):c.6474-29G>A rs6463451 0.36643
NM_138295.5(PKD1L1):c.3520+148G>T rs62447080 0.36483
NM_138295.5(PKD1L1):c.3520+155A>G rs62447079 0.36368
NM_138295.5(PKD1L1):c.3520+157A>G rs62447078 0.36342
NM_138295.5(PKD1L1):c.3520+163_3520+189del rs113663040 0.36154
NM_138295.5(PKD1L1):c.3520+244C>T rs113339754 0.36030
NM_138295.5(PKD1L1):c.3785-236A>G rs17131869 0.33001
NM_138295.5(PKD1L1):c.3813C>T (p.Gly1271=) rs73105162 0.32993
NM_138295.5(PKD1L1):c.3785-7C>T rs17131867 0.32980
NM_138295.5(PKD1L1):c.4092+168T>G rs10951932 0.32817
NM_138295.5(PKD1L1):c.3897-155G>A rs6972918 0.32652
NM_138295.5(PKD1L1):c.3266-141G>A rs12702397 0.31680
NM_138295.5(PKD1L1):c.3266-156G>C rs12702398 0.31501
NM_138295.5(PKD1L1):c.3266-105_3266-104del rs755750443 0.30302
NM_138295.5(PKD1L1):c.3267T>A (p.Ala1089=) rs10951936 0.29797
NM_138295.5(PKD1L1):c.1931+22G>A rs11766212 0.29397
NM_138295.5(PKD1L1):c.3443-47T>C rs17131899 0.29052
NM_138295.5(PKD1L1):c.7686+236T>A rs4724646 0.27516
NM_138295.5(PKD1L1):c.3896+223C>T rs118135269 0.24355
NM_138295.5(PKD1L1):c.3896+224C>T rs143491578 0.23687
NM_138295.5(PKD1L1):c.3896+227del rs1447117405 0.22976
NM_138295.5(PKD1L1):c.7173+116T>C rs6944477 0.22268
NM_138295.5(PKD1L1):c.4591-90dup rs11441954 0.21640
NM_138295.5(PKD1L1):c.6128-79C>T rs34069037 0.20687
NM_138295.5(PKD1L1):c.6720A>G (p.Ala2240=) rs7788583 0.20573
NM_138295.5(PKD1L1):c.5769+51G>A rs6960394 0.20227
NM_138295.5(PKD1L1):c.3521-266A>G rs10951934 0.20011
NM_138295.5(PKD1L1):c.4960+282T>G rs13247756 0.19435
NM_138295.5(PKD1L1):c.6337+87A>G rs17659868 0.17987
NM_138295.5(PKD1L1):c.4860-305A>C rs6951478 0.16739
NM_138295.5(PKD1L1):c.6062C>T (p.Pro2021Leu) rs66755489 0.16688
NM_138295.5(PKD1L1):c.4590+319C>T rs12668946 0.16679
NM_138295.5(PKD1L1):c.5770-95T>C rs17710880 0.16421
NM_138295.5(PKD1L1):c.5237+117A>G rs9639988 0.16068
NM_138295.5(PKD1L1):c.4150-114A>G rs2053985 0.15893
NM_138295.5(PKD1L1):c.6128-82C>T rs17710874 0.15798
NM_138295.5(PKD1L1):c.5764C>T (p.Arg1922Trp) rs76100363 0.15628
NM_138295.5(PKD1L1):c.5446-238G>A rs4724650 0.15539
NM_138295.5(PKD1L1):c.6966-182C>G rs34712849 0.15013
NM_138295.5(PKD1L1):c.7347-5T>C rs73103467 0.14955
NM_138295.5(PKD1L1):c.6337+205G>A rs17545682 0.14760
NM_138295.5(PKD1L1):c.7089+265G>C rs17131825 0.14658
NM_138295.5(PKD1L1):c.7228G>A (p.Glu2410Lys) rs2290386 0.14442
NM_138295.5(PKD1L1):c.8053G>A (p.Ala2685Thr) rs13231277 0.14434
NM_138295.5(PKD1L1):c.5445+254C>T rs10429127 0.14294
NM_138295.5(PKD1L1):c.7173+132C>T rs4595031 0.14216
NM_138295.5(PKD1L1):c.7373G>A (p.Arg2458Gln) rs73692834 0.14183
NM_138295.5(PKD1L1):c.7065G>A (p.Pro2355=) rs17545564 0.13925
NM_138295.5(PKD1L1):c.4093-174A>G rs7782964 0.13176
NM_138295.5(PKD1L1):c.*212C>T rs17545279 0.13125
NM_138295.5(PKD1L1):c.160+200T>C rs13228904 0.12650
NM_138295.5(PKD1L1):c.286-276C>T rs62447088 0.11875
NM_138295.5(PKD1L1):c.3521-223G>A rs9691664 0.11698
NM_138295.5(PKD1L1):c.2064+262G>A rs6945365 0.10475
NM_138295.5(PKD1L1):c.2680G>A (p.Val894Ile) rs56100904 0.09722
NM_138295.5(PKD1L1):c.519+185A>G rs17711348 0.09471
NM_138295.5(PKD1L1):c.399-195C>T rs12702399 0.09459
NM_138295.5(PKD1L1):c.285+238C>T rs11766127 0.09435
NM_138295.5(PKD1L1):c.2454-174G>T rs909062 0.09192
NM_138295.5(PKD1L1):c.8527-165A>G rs6949512 0.08829
NM_138295.5(PKD1L1):c.7347-273dup rs146134302 0.08372
NM_138295.5(PKD1L1):c.3897-123T>C rs72601619 0.06608
NM_138295.5(PKD1L1):c.3896+85G>A rs72601625 0.06558
NM_138295.5(PKD1L1):c.7962+58_7962+59insTT rs3832463 0.06156
NM_138295.5(PKD1L1):c.3663G>A (p.Pro1221=) rs72601626 0.06048
NM_138295.5(PKD1L1):c.1228+257G>A rs73333698 0.06034
NM_138295.5(PKD1L1):c.1931+106C>T rs6956732 0.05867
NM_138295.5(PKD1L1):c.737+207A>G rs75043305 0.05648
NM_138295.5(PKD1L1):c.8193+163G>A rs3734933 0.05474
NM_138295.5(PKD1L1):c.2064+60G>A rs56844122 0.04769
NM_138295.5(PKD1L1):c.1402+248T>A rs55790657 0.04750
NM_138295.5(PKD1L1):c.7963-212G>T rs75557088 0.04738
NM_138295.5(PKD1L1):c.7686+203G>A rs17710723 0.04524
NM_138295.5(PKD1L1):c.7687-133G>C rs77154244 0.04522
NM_138295.5(PKD1L1):c.7827+94C>T rs3734931 0.04519
NM_138295.5(PKD1L1):c.5895C>T (p.Cys1965=) rs17131842 0.04355
NM_138295.5(PKD1L1):c.4859+10T>C rs17659956 0.04055
NM_138295.5(PKD1L1):c.4093-251C>T rs7800256 0.03704
NM_138295.5(PKD1L1):c.3785-68G>A rs75976776 0.03662
NM_138295.5(PKD1L1):c.933T>C (p.Arg311=) rs75505495 0.02894
NM_138295.5(PKD1L1):c.2271+98G>T rs16881635 0.02424
NM_138295.5(PKD1L1):c.6337+120A>G rs17131830 0.02332
NM_138295.5(PKD1L1):c.6174+126C>T rs16881624 0.02320
NM_138295.5(PKD1L1):c.8193+146C>T rs73329487 0.01936
NM_138295.5(PKD1L1):c.5047A>G (p.Thr1683Ala) rs73331766 0.01889
NM_138295.5(PKD1L1):c.2434G>A (p.Asp812Asn) rs17131915 0.01829
NM_138295.5(PKD1L1):c.2453+243G>A rs17131912 0.01811
NM_138295.5(PKD1L1):c.1403-251G>A rs76503142 0.01649
NM_138295.5(PKD1L1):c.6170G>A (p.Arg2057His) rs17131834 0.01628
NM_138295.5(PKD1L1):c.6157G>A (p.Ala2053Thr) rs73331750 0.01585
NM_138295.5(PKD1L1):c.7807C>T (p.Leu2603Phe) rs59848490 0.01559
NM_138295.5(PKD1L1):c.2954C>T (p.Thr985Ile) rs76044743 0.01530
NM_138295.5(PKD1L1):c.6113C>G (p.Thr2038Ser) rs79131011 0.01486
NM_138295.5(PKD1L1):c.7044C>T (p.Gly2348=) rs73331721 0.01465
NM_138295.5(PKD1L1):c.1090T>C (p.Leu364=) rs17131941 0.01332
NM_138295.5(PKD1L1):c.3105T>C (p.Gly1035=) rs116252717 0.01172
NM_138295.5(PKD1L1):c.2775G>A (p.Pro925=) rs17131909 0.00961
NM_138295.5(PKD1L1):c.1208T>C (p.Leu403Pro) rs146750610 0.00954
NM_138295.5(PKD1L1):c.1402+7C>T rs114306336 0.00833
NM_138295.5(PKD1L1):c.44+9T>G rs142601530 0.00723
NM_138295.5(PKD1L1):c.2675+4C>T rs143005953 0.00651
NM_138295.5(PKD1L1):c.5467G>A (p.Asp1823Asn) rs116988549 0.00557
NM_138295.5(PKD1L1):c.7072C>T (p.Arg2358Cys) rs143119133 0.00490
NM_138295.5(PKD1L1):c.7080G>A (p.Pro2360=) rs149120331 0.00488
NM_138295.5(PKD1L1):c.6842G>A (p.Arg2281Gln) rs138305811 0.00481
NM_138295.5(PKD1L1):c.4040G>A (p.Arg1347Gln) rs79519739 0.00474
NM_138295.5(PKD1L1):c.731C>T (p.Pro244Leu) rs142896494 0.00469
NM_138295.5(PKD1L1):c.2969G>A (p.Arg990Gln) rs141646493 0.00434
NM_138295.5(PKD1L1):c.2453+28G>A rs113440880 0.00402
NM_138295.5(PKD1L1):c.908G>A (p.Arg303Gln) rs145088541 0.00374
NM_138295.5(PKD1L1):c.3309C>T (p.Ala1103=) rs149119298 0.00372
NM_138295.5(PKD1L1):c.2599C>T (p.Leu867=) rs150638179 0.00332
NM_138295.5(PKD1L1):c.490G>A (p.Ala164Thr) rs149658004 0.00330
NM_138295.5(PKD1L1):c.2220C>T (p.Leu740=) rs143353908 0.00316
NM_138295.5(PKD1L1):c.5167G>A (p.Ala1723Thr) rs147141584 0.00302
NM_138295.5(PKD1L1):c.5946C>T (p.Pro1982=) rs149432210 0.00293
NM_138295.5(PKD1L1):c.1240A>G (p.Met414Val) rs144104914 0.00222
NM_138295.5(PKD1L1):c.2276A>T (p.Gln759Leu) rs150679968 0.00219
NM_138295.5(PKD1L1):c.1011C>G (p.His337Gln) rs148481862 0.00203
NM_138295.5(PKD1L1):c.7827+6C>T rs145827073 0.00195
NM_138295.5(PKD1L1):c.6058G>A (p.Ala2020Thr) rs142048596 0.00182
NM_138295.5(PKD1L1):c.8374T>C (p.Phe2792Leu) rs148356236 0.00177
NM_138295.5(PKD1L1):c.6949C>T (p.Arg2317Trp) rs139293796 0.00171
NM_138295.5(PKD1L1):c.3475T>C (p.Tyr1159His) rs111983425 0.00163
NM_138295.5(PKD1L1):c.1324G>A (p.Val442Met) rs139392810 0.00150
NM_138295.5(PKD1L1):c.1031C>T (p.Ala344Val) rs146712857 0.00134
NM_138295.5(PKD1L1):c.5865G>A (p.Pro1955=) rs112879160 0.00133
NM_138295.5(PKD1L1):c.2470G>A (p.Ala824Thr) rs79292682 0.00123
NM_138295.5(PKD1L1):c.399-6A>G rs201106567 0.00121
NM_138295.5(PKD1L1):c.7180A>G (p.Arg2394Gly) rs138441246 0.00119
NM_138295.5(PKD1L1):c.4940T>C (p.Ile1647Thr) rs150396842 0.00118
NM_138295.5(PKD1L1):c.3624A>G (p.Ala1208=) rs139854035 0.00110
NM_138295.5(PKD1L1):c.1523-4A>G rs142390559 0.00108
NM_138295.5(PKD1L1):c.528C>T (p.Gly176=) rs139628743 0.00108
NM_138295.5(PKD1L1):c.2031C>T (p.Pro677=) rs74574633 0.00105
NM_138295.5(PKD1L1):c.1689A>G (p.Gln563=) rs145526543 0.00103
NM_138295.5(PKD1L1):c.2979A>T (p.Ser993=) rs147875086 0.00088
NM_138295.5(PKD1L1):c.7418C>T (p.Ser2473Phe) rs140456142 0.00080
NM_138295.5(PKD1L1):c.6898G>A (p.Val2300Ile) rs560253616 0.00072
NM_138295.5(PKD1L1):c.1617G>A (p.Glu539=) rs147723651 0.00063
NM_138295.5(PKD1L1):c.1932-8C>T rs187924501 0.00057
NM_138295.5(PKD1L1):c.2982C>T (p.Pro994=) rs144656414 0.00051
NM_138295.5(PKD1L1):c.4821A>T (p.Lys1607Asn) rs147417448 0.00051
NM_138295.5(PKD1L1):c.5108G>A (p.Arg1703His) rs146605392 0.00047
NM_138295.5(PKD1L1):c.3845T>A (p.Val1282Glu) rs138130715 0.00037
NM_138295.5(PKD1L1):c.122T>A (p.Leu41Gln) rs183524387 0.00034
NM_138295.5(PKD1L1):c.1392G>A (p.Val464=) rs150516084 0.00030
NM_138295.5(PKD1L1):c.7541G>A (p.Arg2514His) rs199514547 0.00025
NM_138295.5(PKD1L1):c.913C>T (p.Pro305Ser) rs201201664 0.00024
NM_138295.5(PKD1L1):c.7795A>G (p.Met2599Val) rs140233929 0.00021
NM_138295.5(PKD1L1):c.2399T>C (p.Ile800Thr) rs148011149 0.00019
NM_138295.5(PKD1L1):c.2871G>A (p.Ser957=) rs200949279 0.00019
NM_138295.5(PKD1L1):c.1389A>G (p.Gln463=) rs187411373 0.00012
NM_138295.5(PKD1L1):c.1237T>C (p.Tyr413His) rs200121935 0.00009
NM_138295.5(PKD1L1):c.8005C>T (p.Arg2669Ter) rs137883370 0.00009
NM_138295.5(PKD1L1):c.4257C>T (p.Leu1419=) rs141331339 0.00008
NM_138295.5(PKD1L1):c.4739G>A (p.Arg1580Gln) rs750052718 0.00007
NM_138295.5(PKD1L1):c.8436C>A (p.Leu2812=) rs142464091 0.00007
NM_138295.5(PKD1L1):c.2216C>T (p.Thr739Ile) rs200811649 0.00006
NM_138295.5(PKD1L1):c.6448T>C (p.Leu2150=) rs1013120060 0.00004
NM_138295.5(PKD1L1):c.7828-3C>T rs201549067 0.00003
NM_138295.5(PKD1L1):c.2424C>T (p.Phe808=) rs764327755 0.00002
NM_138295.5(PKD1L1):c.6357G>A (p.Glu2119=) rs140064044 0.00002
NM_138295.5(PKD1L1):c.6736-3C>T rs1447645024 0.00002
NM_138295.5(PKD1L1):c.2837-7G>C rs369890304 0.00001
GRCh37/hg19 7p12.3(chr7:47709853-47834458)x1
GRCh37/hg19 7p12.3(chr7:47709853-47835116)x1
GRCh37/hg19 7p12.3(chr7:47844151-47941357)x1
NM_138295.5(PKD1L1):c.1005G>T (p.Arg335Ser)
NM_138295.5(PKD1L1):c.1058_1059del (p.Lys353fs)
NM_138295.5(PKD1L1):c.1060+7T>G
NM_138295.5(PKD1L1):c.1061-2A>G
NM_138295.5(PKD1L1):c.1071dup (p.His358fs)
NM_138295.5(PKD1L1):c.1079T>G (p.Leu360Ter)
NM_138295.5(PKD1L1):c.1093G>T (p.Asp365Tyr)
NM_138295.5(PKD1L1):c.1110A>G (p.Lys370=)
NM_138295.5(PKD1L1):c.1113A>G (p.Glu371=)
NM_138295.5(PKD1L1):c.1192A>C (p.Asn398His)
NM_138295.5(PKD1L1):c.1229-19T>C
NM_138295.5(PKD1L1):c.1229-20G>A
NM_138295.5(PKD1L1):c.1229-2A>G
NM_138295.5(PKD1L1):c.1260T>C (p.Tyr420=)
NM_138295.5(PKD1L1):c.1311T>C (p.Ile437=)
NM_138295.5(PKD1L1):c.1323C>T (p.Ala441=)
NM_138295.5(PKD1L1):c.1330G>C (p.Ala444Pro)
NM_138295.5(PKD1L1):c.1332G>A (p.Ala444=)
NM_138295.5(PKD1L1):c.1402+8G>A
NM_138295.5(PKD1L1):c.1403-11del
NM_138295.5(PKD1L1):c.1473G>A (p.Val491=)
NM_138295.5(PKD1L1):c.1497C>T (p.Ser499=)
NM_138295.5(PKD1L1):c.1522+20C>A
NM_138295.5(PKD1L1):c.1522T>C (p.Ser508Pro)
NM_138295.5(PKD1L1):c.1580C>T (p.Thr527Ile) rs1787179179
NM_138295.5(PKD1L1):c.1606C>T (p.Leu536=)
NM_138295.5(PKD1L1):c.1758G>C (p.Arg586Ser)
NM_138295.5(PKD1L1):c.1913G>C (p.Ser638Thr)
NM_138295.5(PKD1L1):c.1931+17C>T
NM_138295.5(PKD1L1):c.1932-19G>A
NM_138295.5(PKD1L1):c.2005A>G (p.Ile669Val)
NM_138295.5(PKD1L1):c.2008G>A (p.Val670Met)
NM_138295.5(PKD1L1):c.2013C>T (p.Cys671=)
NM_138295.5(PKD1L1):c.2037G>T (p.Val679=)
NM_138295.5(PKD1L1):c.2064+320_2064+329del rs200607385
NM_138295.5(PKD1L1):c.2064+70T>G rs112245358
NM_138295.5(PKD1L1):c.2064+9G>A
NM_138295.5(PKD1L1):c.2065-206T>G rs114402222
NM_138295.5(PKD1L1):c.2145C>T (p.Tyr715=)
NM_138295.5(PKD1L1):c.2271+134del rs35976264
NM_138295.5(PKD1L1):c.2272-18C>G
NM_138295.5(PKD1L1):c.2272-195G>C rs17131917
NM_138295.5(PKD1L1):c.2295G>A (p.Val765=)
NM_138295.5(PKD1L1):c.2324T>C (p.Val775Ala)
NM_138295.5(PKD1L1):c.2332del (p.Gln778fs) rs772622926
NM_138295.5(PKD1L1):c.2385C>T (p.Thr795=)
NM_138295.5(PKD1L1):c.2425G>A (p.Asp809Asn)
NM_138295.5(PKD1L1):c.2450T>A (p.Leu817His)
NM_138295.5(PKD1L1):c.2453+119del rs201878562
NM_138295.5(PKD1L1):c.2453+11C>A
NM_138295.5(PKD1L1):c.2453+3G>A
NM_138295.5(PKD1L1):c.2454-18C>G rs372682154
NM_138295.5(PKD1L1):c.2475C>T (p.Thr825=)
NM_138295.5(PKD1L1):c.2508C>T (p.Ser836=)
NM_138295.5(PKD1L1):c.2514T>G (p.Thr838=)
NM_138295.5(PKD1L1):c.2535G>A (p.Ala845=)
NM_138295.5(PKD1L1):c.2538T>A (p.Ala846=)
NM_138295.5(PKD1L1):c.2559A>G (p.Ala853=)
NM_138295.5(PKD1L1):c.2594T>C (p.Val865Ala)
NM_138295.5(PKD1L1):c.2604G>A (p.Arg868=)
NM_138295.5(PKD1L1):c.2620C>T (p.Arg874Trp)
NM_138295.5(PKD1L1):c.2621G>A (p.Arg874Gln)
NM_138295.5(PKD1L1):c.2635A>G (p.Thr879Ala)
NM_138295.5(PKD1L1):c.264C>A (p.Ser88=)
NM_138295.5(PKD1L1):c.2652C>T (p.Ser884=)
NM_138295.5(PKD1L1):c.2667G>A (p.Ser889=)
NM_138295.5(PKD1L1):c.2676-19G>C
NM_138295.5(PKD1L1):c.2740_2741del (p.Leu914fs)
NM_138295.5(PKD1L1):c.2749A>G (p.Met917Val)
NM_138295.5(PKD1L1):c.2774C>T (p.Pro925Leu)
NM_138295.5(PKD1L1):c.2836+13A>G
NM_138295.5(PKD1L1):c.2836+185C>G rs884596
NM_138295.5(PKD1L1):c.2837-2A>G
NM_138295.5(PKD1L1):c.285+74T>G rs62447089
NM_138295.5(PKD1L1):c.286-18T>C
NM_138295.5(PKD1L1):c.2870C>T (p.Ser957Leu)
NM_138295.5(PKD1L1):c.2880C>T (p.Leu960=)
NM_138295.5(PKD1L1):c.2927C>G (p.Pro976Arg)
NM_138295.5(PKD1L1):c.2952G>C (p.Thr984=)
NM_138295.5(PKD1L1):c.2964C>A (p.Phe988Leu)
NM_138295.5(PKD1L1):c.3004A>C (p.Thr1002Pro)
NM_138295.5(PKD1L1):c.3065C>T (p.Ala1022Val)
NM_138295.5(PKD1L1):c.3079G>A (p.Val1027Ile)
NM_138295.5(PKD1L1):c.310G>A (p.Ala104Thr)
NM_138295.5(PKD1L1):c.3141A>T (p.Gly1047=)
NM_138295.5(PKD1L1):c.3158G>A (p.Arg1053His) rs10274334
NM_138295.5(PKD1L1):c.3158G>C (p.Arg1053Pro) rs10274334
NM_138295.5(PKD1L1):c.3165G>A (p.Glu1055=)
NM_138295.5(PKD1L1):c.3177C>T (p.Pro1059=)
NM_138295.5(PKD1L1):c.3228C>T (p.Asp1076=)
NM_138295.5(PKD1L1):c.3234A>G (p.Gln1078=)
NM_138295.5(PKD1L1):c.3249G>A (p.Ser1083=)
NM_138295.5(PKD1L1):c.3266-103_3266-102insCG rs373399455
NM_138295.5(PKD1L1):c.3266-115G>T rs12702396
NM_138295.5(PKD1L1):c.3266-15G>C
NM_138295.5(PKD1L1):c.3266-221GGGA[4] rs67299719
NM_138295.5(PKD1L1):c.3266-221GGGA[7] rs67299719
NM_138295.5(PKD1L1):c.3296C>T (p.Pro1099Leu)
NM_138295.5(PKD1L1):c.3318C>T (p.Ser1106=)
NM_138295.5(PKD1L1):c.3365G>A (p.Arg1122Lys)
NM_138295.5(PKD1L1):c.3377T>G (p.Val1126Gly)
NM_138295.5(PKD1L1):c.3386T>C (p.Ile1129Thr)
NM_138295.5(PKD1L1):c.3412C>T (p.Arg1138Ter)
NM_138295.5(PKD1L1):c.3413G>A (p.Arg1138Gln)
NM_138295.5(PKD1L1):c.3437C>A (p.Ser1146Tyr)
NM_138295.5(PKD1L1):c.3442+225C>G rs12536468
NM_138295.5(PKD1L1):c.3443-15A>C
NM_138295.5(PKD1L1):c.3443-96T>C rs62447082
NM_138295.5(PKD1L1):c.3520+101C>G rs17131893
NM_138295.5(PKD1L1):c.3539T>G (p.Leu1180Arg)
NM_138295.5(PKD1L1):c.3586A>G (p.Met1196Val)
NM_138295.5(PKD1L1):c.3601C>T (p.Gln1201Ter) rs1786435779
NM_138295.5(PKD1L1):c.3630C>A (p.Thr1210=)
NM_138295.5(PKD1L1):c.3634T>C (p.Phe1212Leu)
NM_138295.5(PKD1L1):c.3642C>A (p.Val1214=) rs1583640532
NM_138295.5(PKD1L1):c.3664-9G>A
NM_138295.5(PKD1L1):c.3666C>T (p.Asp1222=)
NM_138295.5(PKD1L1):c.366G>A (p.Gln122=)
NM_138295.5(PKD1L1):c.3671A>T (p.His1224Leu)
NM_138295.5(PKD1L1):c.369G>A (p.Ala123=)
NM_138295.5(PKD1L1):c.3761G>A (p.Gly1254Asp)
NM_138295.5(PKD1L1):c.3784+152A>C rs12113549
NM_138295.5(PKD1L1):c.3785-8C>T
NM_138295.5(PKD1L1):c.3813_3814inv (p.Lys1272Glu)
NM_138295.5(PKD1L1):c.3833C>A (p.Pro1278Gln) rs78833972
NM_138295.5(PKD1L1):c.3833C>T (p.Pro1278Leu)
NM_138295.5(PKD1L1):c.3847G>T (p.Val1283Leu)
NM_138295.5(PKD1L1):c.3889G>A (p.Glu1297Lys)
NM_138295.5(PKD1L1):c.3896+223_3896+228del rs1270132847
NM_138295.5(PKD1L1):c.3896+249del rs57012071
NM_138295.5(PKD1L1):c.3897-18C>G
NM_138295.5(PKD1L1):c.3907A>G (p.Ser1303Gly) rs1562965009
NM_138295.5(PKD1L1):c.3919C>T (p.Leu1307Phe)
NM_138295.5(PKD1L1):c.398+9A>G
NM_138295.5(PKD1L1):c.399-334A>G rs939905
NM_138295.5(PKD1L1):c.399-5T>C
NM_138295.5(PKD1L1):c.4052C>G (p.Ala1351Gly)
NM_138295.5(PKD1L1):c.4092+9C>T rs1583632071
NM_138295.5(PKD1L1):c.4093-254C>G rs7800263
NM_138295.5(PKD1L1):c.4099A>C (p.Met1367Leu)
NM_138295.5(PKD1L1):c.411dup (p.Pro138fs) rs1562996059
NM_138295.5(PKD1L1):c.4128C>A (p.Asp1376Glu)
NM_138295.5(PKD1L1):c.4150-19A>G
NM_138295.5(PKD1L1):c.4150-2A>G
NM_138295.5(PKD1L1):c.4150-32_4212del
NM_138295.5(PKD1L1):c.4167G>A (p.Ala1389=)
NM_138295.5(PKD1L1):c.4182G>A (p.Lys1394=)
NM_138295.5(PKD1L1):c.4190G>A (p.Arg1397Gln)
NM_138295.5(PKD1L1):c.426C>T (p.Ile142=) rs885338
NM_138295.5(PKD1L1):c.427del (p.Ala143fs)
NM_138295.5(PKD1L1):c.4337T>C (p.Ile1446Thr)
NM_138295.5(PKD1L1):c.433G>A (p.Ala145Thr)
NM_138295.5(PKD1L1):c.4362+46dup rs34177211
NM_138295.5(PKD1L1):c.4363-8T>G rs2128742311
NM_138295.5(PKD1L1):c.4379A>G (p.Asn1460Ser)
NM_138295.5(PKD1L1):c.4408C>T (p.Arg1470Trp)
NM_138295.5(PKD1L1):c.4410G>A (p.Arg1470=)
NM_138295.5(PKD1L1):c.4427A>G (p.Asn1476Ser)
NM_138295.5(PKD1L1):c.4591-92A>T rs34811669
NM_138295.5(PKD1L1):c.4641C>T (p.Pro1547=)
NM_138295.5(PKD1L1):c.4650G>A (p.Arg1550=)
NM_138295.5(PKD1L1):c.4665A>G (p.Lys1555=)
NM_138295.5(PKD1L1):c.4751A>G (p.Asn1584Ser)
NM_138295.5(PKD1L1):c.4776C>T (p.Ser1592=)
NM_138295.5(PKD1L1):c.4798_4799del (p.Gln1600fs)
NM_138295.5(PKD1L1):c.4860-150A>T rs17131855
NM_138295.5(PKD1L1):c.4893T>C (p.Leu1631=)
NM_138295.5(PKD1L1):c.489C>G (p.Thr163=)
NM_138295.5(PKD1L1):c.4940T>A (p.Ile1647Lys)
NM_138295.5(PKD1L1):c.4961-17A>C
NM_138295.5(PKD1L1):c.5045A>C (p.Tyr1682Ser)
NM_138295.5(PKD1L1):c.5125G>C (p.Gly1709Arg)
NM_138295.5(PKD1L1):c.5153+10C>A rs551229063
NM_138295.5(PKD1L1):c.5154-15G>T
NM_138295.5(PKD1L1):c.5154-5C>T
NM_138295.5(PKD1L1):c.5154-7C>T
NM_138295.5(PKD1L1):c.5169G>A (p.Ala1723=)
NM_138295.5(PKD1L1):c.5196G>A (p.Leu1732=)
NM_138295.5(PKD1L1):c.520-17G>T
NM_138295.5(PKD1L1):c.520-2A>C
NM_138295.5(PKD1L1):c.5219A>G (p.Asp1740Gly)
NM_138295.5(PKD1L1):c.5229G>A (p.Lys1743=)
NM_138295.5(PKD1L1):c.5237+10A>T
NM_138295.5(PKD1L1):c.5237+54C>A rs6950328
NM_138295.5(PKD1L1):c.5237+54C>T rs6950328
NM_138295.5(PKD1L1):c.52C>T (p.Gln18Ter) rs2128759192
NM_138295.5(PKD1L1):c.5322del (p.Asp1775fs)
NM_138295.5(PKD1L1):c.5397G>A (p.Ala1799=)
NM_138295.5(PKD1L1):c.5427G>A (p.Pro1809=)
NM_138295.5(PKD1L1):c.5523A>G (p.Glu1841=)
NM_138295.5(PKD1L1):c.5553-15T>C
NM_138295.5(PKD1L1):c.5565A>G (p.Gln1855=)
NM_138295.5(PKD1L1):c.5598C>T (p.His1866=)
NM_138295.5(PKD1L1):c.5631C>T (p.Ile1877=)
NM_138295.5(PKD1L1):c.5669G>A (p.Gly1890Asp)
NM_138295.5(PKD1L1):c.5733G>A (p.Glu1911=)
NM_138295.5(PKD1L1):c.5765G>T (p.Arg1922Leu)
NM_138295.5(PKD1L1):c.5769+137C>A rs6960513
NM_138295.5(PKD1L1):c.5769+17T>C
NM_138295.5(PKD1L1):c.5770-14G>C
NM_138295.5(PKD1L1):c.5770-17C>T
NM_138295.5(PKD1L1):c.5770-8C>T
NM_138295.5(PKD1L1):c.57T>G (p.Ala19=)
NM_138295.5(PKD1L1):c.5844C>T (p.Ser1948=)
NM_138295.5(PKD1L1):c.5846G>C (p.Ser1949Thr)
NM_138295.5(PKD1L1):c.5862G>A (p.Thr1954=)
NM_138295.5(PKD1L1):c.5867G>A (p.Arg1956His)
NM_138295.5(PKD1L1):c.5879C>A (p.Ser1960Tyr)
NM_138295.5(PKD1L1):c.5881T>G (p.Phe1961Val)
NM_138295.5(PKD1L1):c.5887C>T (p.Leu1963=)
NM_138295.5(PKD1L1):c.5904G>A (p.Ala1968=)
NM_138295.5(PKD1L1):c.5904G>C (p.Ala1968=)
NM_138295.5(PKD1L1):c.5943+20C>T
NM_138295.5(PKD1L1):c.5944-11C>G
NM_138295.5(PKD1L1):c.5955C>T (p.Asp1985=)
NM_138295.5(PKD1L1):c.603G>A (p.Ala201=)
NM_138295.5(PKD1L1):c.6054+17C>T
NM_138295.5(PKD1L1):c.6114C>T (p.Thr2038=)
NM_138295.5(PKD1L1):c.6115G>A (p.Glu2039Lys)
NM_138295.5(PKD1L1):c.6174+14_6174+16del
NM_138295.5(PKD1L1):c.6174+190del rs57722636
NM_138295.5(PKD1L1):c.6199G>A (p.Gly2067Arg)
NM_138295.5(PKD1L1):c.631G>A (p.Gly211Arg)
NM_138295.5(PKD1L1):c.6338-12A>G
NM_138295.5(PKD1L1):c.6338-3C>T
NM_138295.5(PKD1L1):c.6338-4G>A
NM_138295.5(PKD1L1):c.6383C>A (p.Ala2128Asp)
NM_138295.5(PKD1L1):c.642G>A (p.Thr214=)
NM_138295.5(PKD1L1):c.6473+13G>A
NM_138295.5(PKD1L1):c.6500G>A (p.Trp2167Ter)
NM_138295.5(PKD1L1):c.6558+18T>C
NM_138295.5(PKD1L1):c.6592AGA[1] (p.Arg2199del)
NM_138295.5(PKD1L1):c.6656A>T (p.Glu2219Val)
NM_138295.5(PKD1L1):c.6735+11T>G
NM_138295.5(PKD1L1):c.6746C>T (p.Ala2249Val)
NM_138295.5(PKD1L1):c.6777G>A (p.Ala2259=)
NM_138295.5(PKD1L1):c.6777G>T (p.Ala2259=)
NM_138295.5(PKD1L1):c.6854+10G>A
NM_138295.5(PKD1L1):c.6854+20G>A
NM_138295.5(PKD1L1):c.6854+9C>T
NM_138295.5(PKD1L1):c.6855-13del rs151245497
NM_138295.5(PKD1L1):c.687C>T (p.Ser229=) rs1236373873
NM_138295.5(PKD1L1):c.6938A>G (p.Asn2313Ser)
NM_138295.5(PKD1L1):c.6965+164G>A rs17659820
NM_138295.5(PKD1L1):c.7031C>T (p.Thr2344Ile)
NM_138295.5(PKD1L1):c.704G>A (p.Trp235Ter)
NM_138295.5(PKD1L1):c.7062C>T (p.Thr2354=)
NM_138295.5(PKD1L1):c.708G>A (p.Pro236=)
NM_138295.5(PKD1L1):c.7090-13T>C
NM_138295.5(PKD1L1):c.7090-17C>T
NM_138295.5(PKD1L1):c.7125C>A (p.Gly2375=)
NM_138295.5(PKD1L1):c.7133T>C (p.Val2378Ala)
NM_138295.5(PKD1L1):c.7140G>T (p.Arg2380Ser)
NM_138295.5(PKD1L1):c.7162C>G (p.His2388Asp)
NM_138295.5(PKD1L1):c.7173+8G>A
NM_138295.5(PKD1L1):c.7238del (p.Gly2413fs)
NM_138295.5(PKD1L1):c.7279G>A (p.Val2427Met)
NM_138295.5(PKD1L1):c.7305T>C (p.Cys2435=)
NM_138295.5(PKD1L1):c.7337G>A (p.Gly2446Asp)
NM_138295.5(PKD1L1):c.737+11G>A
NM_138295.5(PKD1L1):c.738-19C>T
NM_138295.5(PKD1L1):c.7381G>A (p.Ala2461Thr)
NM_138295.5(PKD1L1):c.7386C>A (p.Ser2462Arg) rs1394786447
NM_138295.5(PKD1L1):c.7417T>C (p.Ser2473Pro)
NM_138295.5(PKD1L1):c.7423C>T (p.His2475Tyr)
NM_138295.5(PKD1L1):c.7590C>T (p.Phe2530=)
NM_138295.5(PKD1L1):c.7647C>A (p.Gly2549=)
NM_138295.5(PKD1L1):c.7663C>T (p.Arg2555Ter) rs200853469
NM_138295.5(PKD1L1):c.766C>T (p.Arg256Cys)
NM_138295.5(PKD1L1):c.7686+17C>A
NM_138295.5(PKD1L1):c.7693G>A (p.Val2565Met)
NM_138295.5(PKD1L1):c.7728C>T (p.Ser2576=)
NM_138295.5(PKD1L1):c.7787G>T (p.Arg2596Leu)
NM_138295.5(PKD1L1):c.7809T>G (p.Leu2603=)
NM_138295.5(PKD1L1):c.7876T>C (p.Cys2626Arg)
NM_138295.5(PKD1L1):c.7937C>G (p.Ser2646Ter)
NM_138295.5(PKD1L1):c.7986C>T (p.Ala2662=)
NM_138295.5(PKD1L1):c.801T>C (p.Ser267=)
NM_138295.5(PKD1L1):c.8052C>T (p.Asp2684=)
NM_138295.5(PKD1L1):c.8061C>T (p.Pro2687=)
NM_138295.5(PKD1L1):c.8103C>A (p.Cys2701Ter)
NM_138295.5(PKD1L1):c.8130G>C (p.Gln2710His)
NM_138295.5(PKD1L1):c.8131C>T (p.Arg2711Trp)
NM_138295.5(PKD1L1):c.8138T>C (p.Met2713Thr)
NM_138295.5(PKD1L1):c.8209A>G (p.Met2737Val)
NM_138295.5(PKD1L1):c.8355C>T (p.His2785=)
NM_138295.5(PKD1L1):c.8384T>A (p.Leu2795Gln)
NM_138295.5(PKD1L1):c.8413G>C (p.Gly2805Arg)
NM_138295.5(PKD1L1):c.8429T>G (p.Leu2810Arg)
NM_138295.5(PKD1L1):c.8452dup (p.Thr2818fs) rs761514270
NM_138295.5(PKD1L1):c.8460C>T (p.Asn2820=)
NM_138295.5(PKD1L1):c.884A>G (p.Asn295Ser)
NM_138295.5(PKD1L1):c.910G>A (p.Ala304Thr)
NM_138295.5(PKD1L1):c.938A>G (p.His313Arg)

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