NM_001018057.2(DKK3):c.1013C>T (p.Ala338Val)
|
rs114429255
|
0.01405
|
NM_001079539.2(XBP1):c.12_14dup (p.Ala7dup)
|
rs528996789
|
0.00908
|
NM_198334.3(GANAB):c.925C>T (p.Arg309Cys)
|
rs1063445
|
0.00691
|
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys)
|
rs144979397
|
0.00495
|
NM_001079539.2(XBP1):c.44C>T (p.Pro15Leu)
|
rs570172086
|
0.00317
|
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile)
|
rs148932323
|
0.00287
|
NM_138694.4(PKHD1):c.9788T>C (p.Val3263Ala)
|
rs146519878
|
0.00261
|
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)
|
rs147222255
|
0.00223
|
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln)
|
rs61889560
|
0.00207
|
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys)
|
rs149522482
|
0.00198
|
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg)
|
rs149781976
|
0.00146
|
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu)
|
rs142526715
|
0.00145
|
NM_198334.3(GANAB):c.1399G>A (p.Val467Ile)
|
rs150463377
|
0.00090
|
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu)
|
rs150046042
|
0.00070
|
NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln)
|
rs142896856
|
0.00061
|
NM_138694.4(PKHD1):c.7744C>T (p.Pro2582Ser)
|
rs200204857
|
0.00061
|
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val)
|
rs147638455
|
0.00061
|
NM_004498.4(ONECUT1):c.805C>G (p.Arg269Gly)
|
rs139802359
|
0.00060
|
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe)
|
rs201432731
|
0.00058
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_138694.4(PKHD1):c.334G>A (p.Gly112Arg)
|
rs149841071
|
0.00039
|
NM_198334.3(GANAB):c.2173G>A (p.Val725Ile)
|
rs199956781
|
0.00039
|
NM_002336.3(LRP6):c.4436C>T (p.Thr1479Ile)
|
rs144175121
|
0.00038
|
NM_138694.4(PKHD1):c.9925A>G (p.Ile3309Val)
|
rs45627337
|
0.00036
|
NM_002336.3(LRP6):c.3130G>A (p.Asp1044Asn)
|
rs140182370
|
0.00034
|
NM_002335.4(LRP5):c.3403C>T (p.Arg1135Cys)
|
rs143396225
|
0.00032
|
NM_001018057.2(DKK3):c.611A>G (p.Asn204Ser)
|
rs199563886
|
0.00024
|
NM_001289104.2(PRKCSH):c.841C>T (p.Arg281Trp)
|
rs746231889
|
0.00022
|
NM_001009944.3(PKD1):c.10619G>C (p.Gly3540Ala)
|
rs201409107
|
0.00018
|
NM_002336.3(LRP6):c.3406C>T (p.Arg1136Trp)
|
rs140962861
|
0.00017
|
NM_138694.4(PKHD1):c.9262G>A (p.Asp3088Asn)
|
rs201066635
|
0.00015
|
NM_001789.3(CDC25A):c.968A>G (p.Lys323Arg)
|
rs202026442
|
0.00014
|
NM_002336.3(LRP6):c.2599A>G (p.Thr867Ala)
|
rs141458215
|
0.00014
|
NM_138694.4(PKHD1):c.10619A>G (p.Asp3540Gly)
|
rs539832575
|
0.00013
|
NM_001789.3(CDC25A):c.263C>T (p.Ser88Phe)
|
rs3731499
|
0.00012
|
NM_002335.4(LRP5):c.2724C>G (p.His908Gln)
|
rs143539498
|
0.00011
|
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)
|
rs376161880
|
0.00010
|
NM_002335.4(LRP5):c.4580C>T (p.Pro1527Leu)
|
rs80291963
|
0.00009
|
NM_004498.4(ONECUT1):c.242G>A (p.Gly81Asp)
|
rs142641519
|
0.00009
|
NM_004852.3(ONECUT2):c.491C>G (p.Ser164Cys)
|
rs200319925
|
0.00009
|
NM_138694.4(PKHD1):c.7238G>A (p.Arg2413His)
|
rs772219802
|
0.00009
|
NM_138694.4(PKHD1):c.8519G>A (p.Arg2840His)
|
rs373643848
|
0.00008
|
NM_138694.4(PKHD1):c.3526G>A (p.Val1176Ile)
|
rs565045703
|
0.00007
|
NM_002335.4(LRP5):c.4096G>A (p.Asp1366Asn)
|
rs779534615
|
0.00006
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys)
|
rs200432861
|
0.00006
|
NM_152464.3(TMEM199):c.92G>C (p.Arg31Pro)
|
rs782531869
|
0.00006
|
NM_138694.4(PKHD1):c.217C>T (p.Arg73Trp)
|
rs567357782
|
0.00005
|
NM_001789.3(CDC25A):c.1046C>T (p.Thr349Ile)
|
rs201430835
|
0.00004
|
NM_001789.3(CDC25A):c.1124A>G (p.Asn375Ser)
|
rs565583599
|
0.00004
|
NM_002335.4(LRP5):c.1680G>T (p.Trp560Cys)
|
rs377144001
|
0.00004
|
NM_002336.3(LRP6):c.4376C>G (p.Pro1459Arg)
|
rs376248000
|
0.00004
|
NM_002336.3(LRP6):c.615C>A (p.Phe205Leu)
|
rs148780507
|
0.00004
|
NM_024079.5(ALG8):c.685C>T (p.Arg229Ter)
|
rs533704173
|
0.00004
|
NM_032357.4(CCDC115):c.92T>C (p.Leu31Ser)
|
rs751325113
|
0.00004
|
NM_138694.4(PKHD1):c.1893C>G (p.Phe631Leu)
|
rs886061620
|
0.00004
|
NM_138694.4(PKHD1):c.2341C>T (p.Arg781Ter)
|
rs398124478
|
0.00004
|
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)
|
rs367707903
|
0.00004
|
NM_001009944.3(PKD1):c.3865G>A (p.Val1289Met)
|
rs541552030
|
0.00003
|
NM_002335.4(LRP5):c.4268C>T (p.Pro1423Leu)
|
rs748143518
|
0.00003
|
NM_138694.4(PKHD1):c.353del (p.Ser118fs)
|
rs398124483
|
0.00003
|
NM_175914.5(HNF4A):c.50-3462C>T
|
rs757731931
|
0.00003
|
NM_001009944.3(PKD1):c.7940C>T (p.Thr2647Met)
|
rs748496650
|
0.00002
|
NM_001018057.2(DKK3):c.952C>T (p.Arg318Cys)
|
rs201778105
|
0.00002
|
NM_002335.4(LRP5):c.4225C>T (p.Arg1409Cys)
|
rs759834541
|
0.00002
|
NM_138694.4(PKHD1):c.2854G>A (p.Gly952Arg)
|
rs773136605
|
0.00002
|
NM_138694.4(PKHD1):c.5360G>T (p.Cys1787Phe)
|
rs367970695
|
0.00002
|
NM_198334.3(GANAB):c.323C>T (p.Pro108Leu)
|
rs200232092
|
0.00002
|
NM_001009944.3(PKD1):c.12632A>C (p.Glu4211Ala)
|
rs2091400377
|
0.00001
|
NM_001009944.3(PKD1):c.3643C>G (p.Leu1215Val)
|
rs144338515
|
0.00001
|
NM_001009944.3(PKD1):c.3962C>T (p.Pro1321Leu)
|
rs779379060
|
0.00001
|
NM_001289104.2(PRKCSH):c.188A>C (p.Asp63Ala)
|
rs1969752491
|
0.00001
|
NM_001289104.2(PRKCSH):c.76_79+4dup
|
rs1969723330
|
0.00001
|
NM_001289104.2(PRKCSH):c.96T>G (p.Asp32Glu)
|
rs778138658
|
0.00001
|
NM_001904.4(CTNNB1):c.2189G>A (p.Gly730Asp)
|
rs2078513943
|
0.00001
|
NM_002335.4(LRP5):c.1948A>G (p.Thr650Ala)
|
rs756999448
|
0.00001
|
NM_002335.4(LRP5):c.2648A>G (p.Gln883Arg)
|
rs2098660959
|
0.00001
|
NM_002335.4(LRP5):c.4402G>A (p.Gly1468Ser)
|
rs764802790
|
0.00001
|
NM_002335.4(LRP5):c.441G>C (p.Trp147Cys)
|
rs748347747
|
0.00001
|
NM_002335.4(LRP5):c.4651G>A (p.Asp1551Asn)
|
rs724159827
|
0.00001
|
NM_002336.3(LRP6):c.1573C>G (p.Arg525Gly)
|
rs1451948552
|
0.00001
|
NM_002336.3(LRP6):c.2107G>A (p.Gly703Ser)
|
rs754570231
|
0.00001
|
NM_004852.3(ONECUT2):c.676C>G (p.Pro226Ala)
|
rs777194115
|
0.00001
|
NM_004852.3(ONECUT2):c.928C>T (p.Pro310Ser)
|
rs1297497235
|
0.00001
|
NM_007214.5(SEC63):c.2006_2007del (p.His669fs)
|
rs1403483213
|
0.00001
|
NM_007214.5(SEC63):c.292C>T (p.Arg98Ter)
|
rs768568123
|
0.00001
|
NM_007214.5(SEC63):c.452+1G>A
|
rs869312977
|
0.00001
|
NM_024079.5(ALG8):c.981dup (p.Val328fs)
|
rs777686455
|
0.00001
|
NM_138694.4(PKHD1):c.3728C>A (p.Thr1243Lys)
|
rs774865280
|
0.00001
|
NM_138694.4(PKHD1):c.422A>G (p.Gln141Arg)
|
rs202133636
|
0.00001
|
NM_138694.4(PKHD1):c.4475C>T (p.Ser1492Phe)
|
rs775363465
|
0.00001
|
NM_138694.4(PKHD1):c.5485C>T (p.Gln1829Ter)
|
rs774759689
|
0.00001
|
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys)
|
rs752994816
|
0.00001
|
NM_138694.4(PKHD1):c.8231G>A (p.Gly2744Asp)
|
rs1466429790
|
0.00001
|
NM_138694.4(PKHD1):c.9230G>C (p.Trp3077Ser)
|
rs1250269841
|
0.00001
|
NM_175914.5(HNF4A):c.811A>G (p.Ile271Val)
|
rs1270743847
|
0.00001
|
NM_198334.3(GANAB):c.382C>T (p.Leu128Phe)
|
rs532590295
|
0.00001
|
Multiple alleles
|
|
|
NM_000268.4(NF2):c.204C>G (p.Ile68Met)
|
rs747447569
|
|
NM_000297.4(PKD2):c.1027G>C (p.Glu343Gln)
|
rs2110107239
|
|
NM_000297.4(PKD2):c.1103A>G (p.Tyr368Cys)
|
rs2110112018
|
|
NM_000297.4(PKD2):c.1205C>T (p.Thr402Ile)
|
rs2110112190
|
|
NM_000297.4(PKD2):c.1290C>A (p.Asn430Lys)
|
rs554608570
|
|
NM_000297.4(PKD2):c.1985del (p.Thr662fs)
|
rs2110129653
|
|
NM_000297.4(PKD2):c.2062A>G (p.Lys688Glu)
|
rs2110134005
|
|
NM_000297.4(PKD2):c.2125del (p.His709fs)
|
rs2110137964
|
|
NM_000297.4(PKD2):c.2508C>G (p.Tyr836Ter)
|
rs757682666
|
|
NM_000297.4(PKD2):c.2584del (p.Ala862fs)
|
rs2110150747
|
|
NM_000297.4(PKD2):c.2846C>T (p.Ser949Phe)
|
rs749666891
|
|
NM_000297.4(PKD2):c.538dup (p.Leu180fs)
|
rs1371793191
|
|
NM_000297.4(PKD2):c.556C>T (p.Arg186Ter)
|
rs1726258048
|
|
NM_000297.4(PKD2):c.605del (p.Gly202fs)
|
rs2110089194
|
|
NM_000297.4(PKD2):c.620A>G (p.Glu207Gly)
|
rs2110089221
|
|
NM_000297.4(PKD2):c.710-1G>A
|
rs2110104725
|
|
NM_000297.4(PKD2):c.843G>C (p.Lys281Asn)
|
rs1727333486
|
|
NM_000297.4(PKD2):c.860T>G (p.Leu287Ter)
|
rs1727413505
|
|
NM_000297.4(PKD2):c.950G>A (p.Gly317Glu)
|
rs2110107072
|
|
NM_000458.4(HNF1B):c.182T>G (p.Val61Gly)
|
|
|
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
|
|
|
NM_000458.4(HNF1B):c.754C>T (p.Arg252Trp)
|
rs748416956
|
|
NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser)
|
|
|
NM_001009944.3(PKD1):c.10306C>T (p.Gln3436Ter)
|
rs2151726823
|
|
NM_001009944.3(PKD1):c.10462C>T (p.Gln3488Ter)
|
rs1385274120
|
|
NM_001009944.3(PKD1):c.109del (p.Cys37fs)
|
rs2151858299
|
|
NM_001009944.3(PKD1):c.11016+1G>A
|
rs2151707040
|
|
NM_001009944.3(PKD1):c.11172G>C (p.Trp3724Cys)
|
rs866331895
|
|
NM_001009944.3(PKD1):c.11270-1G>A
|
rs2151700092
|
|
NM_001009944.3(PKD1):c.11452G>T (p.Gly3818Cys)
|
rs2151698069
|
|
NM_001009944.3(PKD1):c.11530G>C (p.Asp3844His)
|
rs2151697614
|
|
NM_001009944.3(PKD1):c.11554del (p.Leu3852fs)
|
rs724159823
|
|
NM_001009944.3(PKD1):c.11712+1G>C
|
rs2091571329
|
|
NM_001009944.3(PKD1):c.12725_12735dup (p.Leu4246fs)
|
rs2151675632
|
|
NM_001009944.3(PKD1):c.1278GGC[1] (p.Ala428del)
|
rs724159824
|
|
NM_001009944.3(PKD1):c.1353dup (p.Val452fs)
|
rs2151822325
|
|
NM_001009944.3(PKD1):c.1398_1403del (p.Trp467_Ile468del)
|
rs2151820984
|
|
NM_001009944.3(PKD1):c.2681_2690del (p.Leu893_Phe894insTer)
|
rs2151813077
|
|
NM_001009944.3(PKD1):c.278T>C (p.Leu93Pro)
|
rs2151826530
|
|
NM_001009944.3(PKD1):c.2839C>T (p.Gln947Ter)
|
rs763199691
|
|
NM_001009944.3(PKD1):c.302del (p.Asn101fs)
|
rs2151826161
|
|
NM_001009944.3(PKD1):c.3119CGG[1] (p.Ala1041del)
|
rs2151806438
|
|
NM_001009944.3(PKD1):c.3133G>C (p.Val1045Leu)
|
rs724159822
|
|
NM_001009944.3(PKD1):c.359+3A>T
|
rs2151826018
|
|
NM_001009944.3(PKD1):c.3746A>C (p.Asp1249Ala)
|
rs2092501507
|
|
NM_001009944.3(PKD1):c.3955G>C (p.Gly1319Arg)
|
rs747362311
|
|
NM_001009944.3(PKD1):c.4551C>A (p.Tyr1517Ter)
|
rs1238351274
|
|
NM_001009944.3(PKD1):c.5065G>T (p.Glu1689Ter)
|
rs534630703
|
|
NM_001009944.3(PKD1):c.5679G>A (p.Trp1893Ter)
|
rs2151792059
|
|
NM_001009944.3(PKD1):c.5964_5965del (p.Arg1990fs)
|
rs2151790507
|
|
NM_001009944.3(PKD1):c.6210del (p.Cys2071fs)
|
rs2151789316
|
|
NM_001009944.3(PKD1):c.6391A>C (p.Ser2131Arg)
|
rs2151788244
|
|
NM_001009944.3(PKD1):c.640T>A (p.Cys214Ser)
|
rs1567218351
|
|
NM_001009944.3(PKD1):c.6555C>A (p.Tyr2185Ter)
|
rs755972713
|
|
NM_001009944.3(PKD1):c.6915+1G>A
|
rs2151785467
|
|
NM_001009944.3(PKD1):c.7065+2T>G
|
rs2151783529
|
|
NM_001009944.3(PKD1):c.7579_7580del (p.Val2527fs)
|
rs2151772170
|
|
NM_001009944.3(PKD1):c.7844T>C (p.Leu2615Pro)
|
rs2151769881
|
|
NM_001009944.3(PKD1):c.7969A>C (p.Thr2657Pro)
|
rs557020044
|
|
NM_001009944.3(PKD1):c.8363C>G (p.Ser2788Trp)
|
rs761060813
|
|
NM_001009944.3(PKD1):c.8631del (p.Asn2878fs)
|
rs2151754452
|
|
NM_001009944.3(PKD1):c.9398-2A>G
|
rs2151742515
|
|
NM_001009944.3(PKD1):c.9543G>C (p.Lys3181Asn)
|
rs2092047055
|
|
NM_001009944.3(PKD1):c.9569-1G>C
|
rs2151741177
|
|
NM_001009944.3(PKD1):c.9611A>G (p.Asp3204Gly)
|
rs1596513913
|
|
NM_001009944.3(PKD1):c.965_984dup (p.Gly329fs)
|
rs2151823406
|
|
NM_001018057.2(DKK3):c.1006dup (p.Glu336fs)
|
rs2134978784
|
|
NM_001018057.2(DKK3):c.647C>T (p.Pro216Leu)
|
rs371921208
|
|
NM_001079539.2(XBP1):c.95C>T (p.Ala32Val)
|
rs1394430611
|
|
NM_001289104.2(PRKCSH):c.1290C>A (p.Tyr430Ter)
|
rs121918520
|
|
NM_001289104.2(PRKCSH):c.1462-1G>T
|
rs879147040
|
|
NM_001289104.2(PRKCSH):c.228C>G (p.His76Gln)
|
rs2144807765
|
|
NM_001289104.2(PRKCSH):c.362G>T (p.Arg121Leu)
|
rs377537927
|
|
NM_001289104.2(PRKCSH):c.374_375del (p.Glu125fs)
|
rs779685748
|
|
NM_001289104.2(PRKCSH):c.430_432delinsAATAAGG (p.Leu144fs)
|
rs2144822009
|
|
NM_001289104.2(PRKCSH):c.464A>G (p.Lys155Arg)
|
rs2144822186
|
|
NM_001289104.2(PRKCSH):c.487C>T (p.Gln163Ter)
|
rs2144826022
|
|
NM_001289104.2(PRKCSH):c.781A>T (p.Thr261Ser)
|
rs1156928058
|
|
NM_001289104.2(PRKCSH):c.988G>A (p.Glu330Lys)
|
rs1397015529
|
|
NM_001904.4(CTNNB1):c.1456C>T (p.Arg486Cys)
|
rs113411271
|
|
NM_001904.4(CTNNB1):c.2317C>A (p.Gln773Lys)
|
rs779955747
|
|
NM_002335.4(LRP5):c.1136A>C (p.Asp379Ala)
|
rs2153153124
|
|
NM_002335.4(LRP5):c.1360G>A (p.Val454Met)
|
rs373910016
|
|
NM_002335.4(LRP5):c.3468G>C (p.Gln1156His)
|
rs724159825
|
|
NM_002335.4(LRP5):c.34CTG[6] (p.Leu18_Leu20del)
|
rs72555376
|
|
NM_002335.4(LRP5):c.3562C>T (p.Arg1188Trp)
|
rs141178995
|
|
NM_002335.4(LRP5):c.3916G>T (p.Ala1306Ser)
|
rs748395267
|
|
NM_002335.4(LRP5):c.441G>T (p.Trp147Cys)
|
rs748347747
|
|
NM_002335.4(LRP5):c.4587G>C (p.Arg1529Ser)
|
rs724159826
|
|
NM_002336.3(LRP6):c.1426C>G (p.Leu476Val)
|
rs2136988022
|
|
NM_002336.3(LRP6):c.1603A>G (p.Ile535Val)
|
rs1862848708
|
|
NM_002336.3(LRP6):c.3025A>G (p.Ser1009Gly)
|
rs2136915109
|
|
NM_002336.3(LRP6):c.458A>G (p.Tyr153Cys)
|
rs2137042982
|
|
NM_002729.5(HHEX):c.17C>G (p.Pro6Arg)
|
rs1014685241
|
|
NM_004852.3(ONECUT2):c.940C>T (p.Arg314Trp)
|
rs764014713
|
|
NM_007214.5(SEC63):c.105G>A (p.Trp35Ter)
|
rs1011931149
|
|
NM_007214.5(SEC63):c.1118_1126del (p.Ala373_Gln375del)
|
rs2114443516
|
|
NM_007214.5(SEC63):c.1124A>C (p.Gln375Pro)
|
rs1787041288
|
|
NM_007214.5(SEC63):c.1249G>T (p.Glu417Ter)
|
rs1787002281
|
|
NM_007214.5(SEC63):c.133C>T (p.Arg45Ter)
|
rs2114487759
|
|
NM_007214.5(SEC63):c.1434_1435del (p.Met479fs)
|
rs2114434218
|
|
NM_007214.5(SEC63):c.1577C>A (p.Ser526Ter)
|
rs779331877
|
|
NM_007214.5(SEC63):c.1629G>C (p.Gln543His)
|
rs2114426916
|
|
NM_007214.5(SEC63):c.1810A>T (p.Lys604Ter)
|
rs2114406531
|
|
NM_007214.5(SEC63):c.1817_1821del (p.Asn606fs)
|
rs2114406508
|
|
NM_007214.5(SEC63):c.1864C>T (p.Arg622Ter)
|
rs2114403750
|
|
NM_007214.5(SEC63):c.1895C>A (p.Ser632Ter)
|
rs768615942
|
|
NM_007214.5(SEC63):c.2026A>G (p.Thr676Ala)
|
rs755716600
|
|
NM_007214.5(SEC63):c.220del (p.Thr73_Val74insTer)
|
rs869312978
|
|
NM_007214.5(SEC63):c.359T>C (p.Ile120Thr)
|
rs2114476499
|
|
NM_007214.5(SEC63):c.359_366del (p.Ile120fs)
|
rs2114476485
|
|
NM_007214.5(SEC63):c.422del (p.Met141fs)
|
rs2114476431
|
|
NM_007214.5(SEC63):c.502G>C (p.Asp168His)
|
rs2114461992
|
|
NM_007214.5(SEC63):c.622G>C (p.Val208Leu)
|
rs2114458613
|
|
NM_007214.5(SEC63):c.636G>A (p.Trp212Ter)
|
rs2114454119
|
|
NM_007214.5(SEC63):c.646A>G (p.Ile216Val)
|
rs2114454091
|
|
NM_007214.5(SEC63):c.693_694dup (p.Thr232fs)
|
rs2114453997
|
|
NM_007214.5(SEC63):c.715C>T (p.Arg239Ter)
|
rs755795110
|
|
NM_007214.5(SEC63):c.958G>T (p.Glu320Ter)
|
rs749842172
|
|
NM_007214.5(SEC63):c.964del (p.Gln322fs)
|
rs2114447040
|
|
NM_013336.4(SEC61A1):c.706C>T (p.Arg236Cys)
|
rs2107647591
|
|
NM_013336.4(SEC61A1):c.707G>A (p.Arg236His)
|
rs2107647595
|
|
NM_018144.4(SEC61A2):c.508C>A (p.Gln170Lys)
|
rs2131675164
|
|
NM_024079.5(ALG8):c.1501del (p.Ala500_Val501insTer)
|
|
|
NM_024079.5(ALG8):c.160C>T (p.Gln54Ter)
|
|
|
NM_024079.5(ALG8):c.272del (p.Asn91fs)
|
|
|
NM_024079.5(ALG8):c.371del (p.Cys124fs)
|
|
|
NM_024079.5(ALG8):c.460G>A (p.Gly154Arg)
|
|
|
NM_024079.5(ALG8):c.478+3A>G
|
|
|
NM_032357.4(CCDC115):c.31G>T (p.Asp11Tyr)
|
rs869025583
|
|
NM_138694.4(PKHD1):c.10126del (p.Ala3376fs)
|
rs1334145215
|
|
NM_138694.4(PKHD1):c.10319T>A (p.Val3440Asp)
|
rs756792624
|
|
NM_138694.4(PKHD1):c.10727G>A (p.Trp3576Ter)
|
rs2150413999
|
|
NM_138694.4(PKHD1):c.10727G>T (p.Trp3576Leu)
|
rs2150413999
|
|
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter)
|
rs769559267
|
|
NM_138694.4(PKHD1):c.12076C>G (p.Gln4026Glu)
|
rs780097121
|
|
NM_138694.4(PKHD1):c.1880T>A (p.Met627Lys)
|
rs786204696
|
|
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu)
|
rs777183511
|
|
NM_138694.4(PKHD1):c.2269A>G (p.Ile757Val)
|
rs777183511
|
|
NM_138694.4(PKHD1):c.2285_2286del (p.Val762fs)
|
rs2128193153
|
|
NM_138694.4(PKHD1):c.3310T>G (p.Ser1104Ala)
|
rs1803317608
|
|
NM_138694.4(PKHD1):c.4346G>T (p.Gly1449Val)
|
rs2128144126
|
|
NM_138694.4(PKHD1):c.6314A>G (p.Tyr2105Cys)
|
rs2127666900
|
|
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly)
|
rs201881567
|
|
NM_138694.4(PKHD1):c.7529C>A (p.Ser2510Tyr)
|
rs1775373904
|
|
NM_138694.4(PKHD1):c.8122C>T (p.Gln2708Ter)
|
rs1473182306
|
|
NM_138694.4(PKHD1):c.8776C>G (p.Arg2926Gly)
|
rs757650951
|
|
NM_138694.4(PKHD1):c.9868G>A (p.Asp3290Asn)
|
rs370659581
|
|
NM_152464.2(TMEM199):c.[376-1G>A];[40G>C]
|
|
|
NM_152464.3(TMEM199):c.20C>A (p.Ala7Glu)
|
rs369488804
|
|
NM_198334.3(GANAB):c.11_16del (p.Val4_Ala5del)
|
rs750723025
|
|
NM_198334.3(GANAB):c.1259A>G (p.Asn420Ser)
|
rs146956329
|
|
NM_198334.3(GANAB):c.1541A>C (p.Asn514Thr)
|
rs1565094929
|
|
NM_198334.3(GANAB):c.1769G>C (p.Arg590Pro)
|
rs1465649718
|
|
NM_198334.3(GANAB):c.1786C>T (p.Arg596Cys)
|
rs1565093675
|
|
NM_198334.3(GANAB):c.1817C>G (p.Ala606Gly)
|
rs1565093575
|
|
NM_198334.3(GANAB):c.1936+1G>C
|
rs1565092899
|
|
NM_198334.3(GANAB):c.1940A>G (p.Asp647Gly)
|
rs1565092566
|
|
NM_198334.3(GANAB):c.2443C>T (p.Arg815Ter)
|
rs1565088616
|
|
NM_198334.3(GANAB):c.2590C>T (p.Arg864Ter)
|
rs1210158408
|
|
NM_198334.3(GANAB):c.2636C>T (p.Pro879Leu)
|
rs550777375
|
|
NM_198334.3(GANAB):c.38G>A (p.Arg13Gln)
|
rs1565116806
|
|
NM_198334.3(GANAB):c.621del (p.Asp207fs)
|
rs1565099895
|
|