NM_001126108.2(SLC12A3):c.363G>C (p.Glu121Asp)
|
rs146632606
|
0.00102
|
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr)
|
rs143999854
|
0.00093
|
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu)
|
rs199690076
|
0.00059
|
NM_001126108.2(SLC12A3):c.37G>C (p.Ala13Pro)
|
rs147200024
|
0.00048
|
NM_153240.5(NPHP3):c.2694-2_2694-1del
|
rs751527253
|
0.00026
|
NM_004646.4(NPHS1):c.559G>A (p.Val187Met)
|
rs199646884
|
0.00016
|
NM_022042.4(SLC26A1):c.554C>T (p.Thr185Met)
|
rs139024319
|
0.00016
|
NM_000092.5(COL4A4):c.5045G>A (p.Arg1682Gln)
|
rs368404711
|
0.00010
|
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln)
|
rs202114767
|
0.00008
|
NM_153240.5(NPHP3):c.703G>A (p.Gly235Arg)
|
rs368570508
|
0.00008
|
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser)
|
rs775057827
|
0.00006
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)
|
rs74315398
|
0.00006
|
NM_000091.5(COL4A3):c.1096G>A (p.Gly366Arg)
|
rs539765620
|
0.00005
|
NM_001126108.2(SLC12A3):c.2191G>A (p.Gly731Arg)
|
rs752101663
|
0.00005
|
NM_015102.5(NPHP4):c.1889_1892del (p.Pro630fs)
|
rs1368105372
|
0.00005
|
NM_000091.5(COL4A3):c.172G>A (p.Gly58Ser)
|
rs184730597
|
0.00004
|
NM_004621.6(TRPC6):c.2534T>G (p.Leu845Arg)
|
rs1165923760
|
0.00004
|
NM_001126108.2(SLC12A3):c.1844C>T (p.Ser615Leu)
|
rs779160677
|
0.00003
|
NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro)
|
rs568513106
|
0.00003
|
NM_014270.5(SLC7A9):c.325G>A (p.Ala109Thr)
|
rs750849536
|
0.00003
|
NM_014813.3(LRIG2):c.1237G>T (p.Glu413Ter)
|
rs1399525051
|
0.00003
|
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp)
|
rs376040501
|
0.00003
|
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)
|
rs772708743
|
0.00002
|
NM_000092.5(COL4A4):c.1223G>A (p.Gly408Glu)
|
rs1026613471
|
0.00002
|
NM_000545.8(HNF1A):c.1576G>A (p.Asp526Asn)
|
rs1315721381
|
0.00002
|
NM_175914.5(HNF4A):c.658G>A (p.Val220Met)
|
rs202105574
|
0.00002
|
NM_000091.5(COL4A3):c.1855G>A (p.Gly619Arg)
|
rs773515249
|
0.00001
|
NM_000091.5(COL4A3):c.1927G>A (p.Gly643Ser)
|
rs778034451
|
0.00001
|
NM_000091.5(COL4A3):c.2452G>A (p.Gly818Arg)
|
rs868002181
|
0.00001
|
NM_000091.5(COL4A3):c.2962G>A (p.Gly988Arg)
|
rs769683665
|
0.00001
|
NM_000091.5(COL4A3):c.3499G>A (p.Gly1167Arg)
|
rs267606745
|
0.00001
|
NM_000091.5(COL4A3):c.352G>A (p.Gly118Arg)
|
rs1293137291
|
0.00001
|
NM_000091.5(COL4A3):c.3820G>A (p.Gly1274Ser)
|
rs1559914789
|
0.00001
|
NM_000092.5(COL4A4):c.2092G>A (p.Gly698Arg)
|
rs1241404192
|
0.00001
|
NM_000092.5(COL4A4):c.3734G>T (p.Gly1245Val)
|
rs1189502123
|
0.00001
|
NM_000092.5(COL4A4):c.4122del (p.Cys1375fs)
|
rs1162601696
|
0.00001
|
NM_000092.5(COL4A4):c.489+1G>A
|
rs1040287646
|
0.00001
|
NM_000388.4(CASR):c.1189G>A (p.Gly397Arg)
|
rs1064794291
|
0.00001
|
NM_000503.6(EYA1):c.1483T>A (p.Cys495Ser)
|
rs1563630587
|
0.00001
|
NM_001126108.2(SLC12A3):c.2623G>A (p.Glu875Lys)
|
rs1441228030
|
0.00001
|
NM_001126108.2(SLC12A3):c.557G>A (p.Gly186Asp)
|
rs759426055
|
0.00001
|
NM_001360.3(DHCR7):c.1084C>T (p.Arg362Cys)
|
rs371302153
|
0.00001
|
NM_002473.6(MYH9):c.1271G>A (p.Arg424Gln)
|
rs1321659356
|
0.00001
|
NM_003001.5(SDHC):c.405+1G>T
|
rs587776653
|
0.00001
|
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe)
|
rs398123697
|
0.00001
|
NM_003361.4(UMOD):c.326T>A (p.Val109Glu)
|
rs780462125
|
0.00001
|
NM_004621.6(TRPC6):c.643C>T (p.Arg215Trp)
|
rs768210838
|
0.00001
|
NM_005912.3(MC4R):c.466C>T (p.Gln156Ter)
|
rs369841551
|
0.00001
|
NM_015102.5(NPHP4):c.2579G>A (p.Gly860Glu)
|
rs1487910110
|
0.00001
|
NM_016341.4(PLCE1):c.2960A>G (p.His987Arg)
|
rs762245091
|
0.00001
|
NM_025132.4(WDR19):c.14T>C (p.Phe5Ser)
|
rs1237494778
|
0.00001
|
NM_033380.3(COL4A5):c.1276G>A (p.Gly426Arg)
|
rs104886111
|
0.00001
|
NM_138694.4(PKHD1):c.8317G>T (p.Val2773Leu)
|
rs747322128
|
0.00001
|
NM_153240.5(NPHP3):c.3287T>C (p.Leu1096Pro)
|
rs777276873
|
0.00001
|
NM_000091.5(COL4A3):c.1006G>T (p.Gly336Cys)
|
rs1559873550
|
|
NM_000091.5(COL4A3):c.1087G>A (p.Gly363Arg)
|
rs1559875465
|
|
NM_000091.5(COL4A3):c.1141G>C (p.Gly381Arg)
|
rs1559876538
|
|
NM_000091.5(COL4A3):c.1201G>A (p.Gly401Arg)
|
rs1559878824
|
|
NM_000091.5(COL4A3):c.1354G>A (p.Gly452Arg)
|
rs772958162
|
|
NM_000091.5(COL4A3):c.190G>C (p.Gly64Arg)
|
rs917643323
|
|
NM_000091.5(COL4A3):c.2647G>A (p.Gly883Arg)
|
rs1559897288
|
|
NM_000091.5(COL4A3):c.2810G>A (p.Gly937Glu)
|
rs1559899600
|
|
NM_000091.5(COL4A3):c.3070+2T>C
|
rs1173685095
|
|
NM_000091.5(COL4A3):c.3142G>C (p.Gly1048Arg)
|
rs1559906448
|
|
NM_000091.5(COL4A3):c.3212G>A (p.Gly1071Glu)
|
rs765128550
|
|
NM_000091.5(COL4A3):c.3275G>T (p.Gly1092Val)
|
rs1559909513
|
|
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup)
|
rs1175052474
|
|
NM_000091.5(COL4A3):c.3592G>A (p.Gly1198Ser)
|
rs920061910
|
|
NM_000091.5(COL4A3):c.4010G>A (p.Gly1337Glu)
|
rs779855573
|
|
NM_000091.5(COL4A3):c.872G>A (p.Gly291Glu)
|
rs1425230568
|
|
NM_000091.5(COL4A3):c.88G>C (p.Gly30Arg)
|
rs1559854632
|
|
NM_000091.5(COL4A3):c.953G>A (p.Gly318Asp)
|
rs1559872489
|
|
NM_000092.5(COL4A4):c.1108G>A (p.Gly370Arg)
|
rs1559617617
|
|
NM_000092.5(COL4A4):c.1423G>T (p.Gly475Cys)
|
rs1371408968
|
|
NM_000092.5(COL4A4):c.2528G>A (p.Gly843Glu)
|
rs1559515185
|
|
NM_000092.5(COL4A4):c.2545+2T>G
|
rs1559515075
|
|
NM_000092.5(COL4A4):c.282_283del (p.Asp96fs)
|
rs1559677146
|
|
NM_000092.5(COL4A4):c.2870G>T (p.Gly957Val)
|
rs1559503562
|
|
NM_000092.5(COL4A4):c.4175G>C (p.Gly1392Ala)
|
rs1559429663
|
|
NM_000092.5(COL4A4):c.4311_4315dup (p.Gly1439fs)
|
rs1559406956
|
|
NM_000092.5(COL4A4):c.4429G>T (p.Glu1477Ter)
|
rs1367906290
|
|
NM_000092.5(COL4A4):c.4760del (p.Pro1587fs)
|
rs1206142672
|
|
NM_000141.5(FGFR2):c.1717C>T (p.Arg573Ter)
|
rs1564875577
|
|
NM_000169.3(GLA):c.151A>C (p.Met51Leu)
|
rs1569306069
|
|
NM_000216.4(ANOS1):c.397dup (p.Asp133fs)
|
rs1569059249
|
|
NM_000276.4(OCRL):c.952C>A (p.Arg318Ser)
|
rs137853263
|
|
NM_000278.5(PAX2):c.113G>A (p.Arg38Lys)
|
rs1564706226
|
|
NM_000278.5(PAX2):c.219C>G (p.Tyr73Ter)
|
rs139724326
|
|
NM_000278.5(PAX2):c.220G>T (p.Glu74Ter)
|
rs754146050
|
|
NM_000278.5(PAX2):c.265A>T (p.Lys89Ter)
|
rs1564706973
|
|
NM_000278.5(PAX2):c.433C>T (p.Gln145Ter)
|
rs1564722420
|
|
NM_000297.4(PKD2):c.1548+1G>A
|
rs752024467
|
|
NM_000297.4(PKD2):c.2274_2275dup (p.Phe759fs)
|
rs1560626561
|
|
NM_000335.5(SCN5A):c.3943C>T (p.Arg1315Ter)
|
rs1553695764
|
|
NM_000341.4(SLC3A1):c.1094G>A (p.Arg365Gln)
|
rs567478582
|
|
NM_000341.4(SLC3A1):c.1701G>T (p.Arg567Ser)
|
rs904926333
|
|
NM_000341.4(SLC3A1):c.766-1G>T
|
rs1558455633
|
|
NM_000341.4(SLC3A1):c.777T>G (p.Tyr259Ter)
|
rs1558455640
|
|
NM_000388.4(CASR):c.2165del (p.Asn722fs)
|
rs1559968729
|
|
NM_000458.4(HNF1B):c.853G>A (p.Gly285Ser)
|
|
|
NM_000503.6(EYA1):c.640G>A (p.Asp214Asn)
|
rs1563422500
|
|
NM_000535.7(PMS2):c.706-2A>T
|
rs745487791
|
|
NM_000537.4(REN):c.116T>A (p.Met39Lys)
|
rs1558245626
|
|
NM_000545.8(HNF1A):c.59G>T (p.Gly20Val)
|
rs1566092362
|
|
NM_000546.6(TP53):c.833C>G (p.Pro278Arg)
|
rs876659802
|
|
NM_000548.5(TSC2):c.2870dup (p.Leu957fs)
|
rs1567490680
|
|
NM_001009944.3(PKD1):c.1039_1045del (p.Gly347fs)
|
rs1567217194
|
|
NM_001009944.3(PKD1):c.10998del (p.Arg3666fs)
|
rs1567157447
|
|
NM_001009944.3(PKD1):c.11251_11266del (p.Gln3751fs)
|
rs1567154939
|
|
NM_001009944.3(PKD1):c.12444G>C (p.Glu4148Asp)
|
rs1567145638
|
|
NM_001009944.3(PKD1):c.12445-2A>T
|
rs1555444334
|
|
NM_001009944.3(PKD1):c.1261C>T (p.Arg421Cys)
|
rs1567216536
|
|
NM_001009944.3(PKD1):c.12718G>T (p.Glu4240Ter)
|
rs1567143705
|
|
NM_001009944.3(PKD1):c.1420C>T (p.Gln474Ter)
|
rs1567215646
|
|
NM_001009944.3(PKD1):c.1439del (p.Pro480fs)
|
rs1567215590
|
|
NM_001009944.3(PKD1):c.1903dup (p.Gln635fs)
|
rs1567213083
|
|
NM_001009944.3(PKD1):c.275del (p.Ala92fs)
|
rs1567219735
|
|
NM_001009944.3(PKD1):c.3401_3404del (p.Ser1134fs)
|
rs1567204146
|
|
NM_001009944.3(PKD1):c.4110_4113del (p.His1369_Tyr1370insTer)
|
rs1567201338
|
|
NM_001009944.3(PKD1):c.5937C>A (p.Cys1979Ter)
|
rs754333013
|
|
NM_001009944.3(PKD1):c.6508dup (p.Glu2170fs)
|
rs1567192623
|
|
NM_001009944.3(PKD1):c.7274del (p.Gly2425fs)
|
rs1567186399
|
|
NM_001009944.3(PKD1):c.7327G>T (p.Gly2443Ter)
|
rs1567186165
|
|
NM_001009944.3(PKD1):c.741_742dup (p.Cys248fs)
|
rs1567218104
|
|
NM_001009944.3(PKD1):c.8218G>T (p.Gly2740Ter)
|
rs1555451368
|
|
NM_001009944.3(PKD1):c.8423T>C (p.Ile2808Thr)
|
rs1567177764
|
|
NM_001009944.3(PKD1):c.9231dup (p.Met3078fs)
|
rs1567173968
|
|
NM_001009944.3(PKD1):c.9518del (p.Pro3173fs)
|
rs1567171182
|
|
NM_001009944.3(PKD1):c.9558C>G (p.His3186Gln)
|
rs765094547
|
|
NM_001009944.3(PKD1):c.9563A>T (p.Asn3188Ile)
|
rs1567171059
|
|
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg)
|
rs199474746
|
|
NM_001042681.2(RERE):c.3039dup (p.Pro1014fs)
|
rs1557586047
|
|
NM_001122630.2(CDKN1C):c.573_574del (p.Ala192fs)
|
rs1564929735
|
|
NM_001127898.4(CLCN5):c.2116C>T (p.Leu706Phe)
|
rs1569540502
|
|
NM_001276345.2(TNNT2):c.719+2T>A
|
rs113984578
|
|
NM_001360.3(DHCR7):c.895C>T (p.His299Tyr)
|
rs745498103
|
|
NM_001360.3(DHCR7):c.91C>T (p.Arg31Cys)
|
rs367585401
|
|
NM_001395656.1(ROBO2):c.95G>A (p.Arg32Gln)
|
rs754279676
|
|
NM_001854.4(COL11A1):c.2792G>A (p.Gly931Glu)
|
rs1557891760
|
|
NM_002968.3(SALL1):c.712C>T (p.Gln238Ter)
|
rs1567316325
|
|
NM_003002.4(SDHD):c.411del (p.Leu139fs)
|
rs1566702771
|
|
NM_003361.4(UMOD):c.197T>C (p.Leu66Pro)
|
rs1567311288
|
|
NM_003361.4(UMOD):c.205T>A (p.Cys69Ser)
|
rs1567311279
|
|
NM_003361.4(UMOD):c.255C>A (p.Asn85Lys)
|
rs750535100
|
|
NM_003361.4(UMOD):c.628G>A (p.Gly210Ser)
|
rs1567309965
|
|
NM_003361.4(UMOD):c.774G>C (p.Trp258Cys)
|
rs1567309582
|
|
NM_004380.3(CREBBP):c.5830dup (p.Ala1944fs)
|
rs1567262786
|
|
NM_004380.3(CREBBP):c.5837del (p.Pro1946fs)
|
rs587783507
|
|
NM_004621.6(TRPC6):c.2284G>A (p.Val762Ile)
|
rs1565206758
|
|
NM_004621.6(TRPC6):c.266G>T (p.Ser89Ile)
|
rs1565221699
|
|
NM_004621.6(TRPC6):c.434A>G (p.His145Arg)
|
rs1565221486
|
|
NM_004646.4(NPHS1):c.1592G>T (p.Gly531Val)
|
rs1281962144
|
|
NM_005378.6(MYCN):c.228dup (p.Trp77fs)
|
rs1558533831
|
|
NM_006005.3(WFS1):c.1046TCT[1] (p.Phe350del)
|
rs1560418164
|
|
NM_006005.3(WFS1):c.2643_2646del (p.Phe882fs)
|
rs1560422383
|
|
NM_006306.4(SMC1A):c.855-2A>G
|
rs1569358774
|
|
NM_013336.4(SEC61A1):c.1284C>G (p.Ile428Met)
|
rs147461692
|
|
NM_014270.5(SLC7A9):c.1353C>A (p.Tyr451Ter)
|
rs1007096305
|
|
NM_014270.5(SLC7A9):c.141del (p.Ile48fs)
|
rs1568532461
|
|
NM_014813.3(LRIG2):c.1569C>A (p.Ser523Arg)
|
rs1557914199
|
|
NM_015102.5(NPHP4):c.1149_1150insCC (p.Ala384fs)
|
rs1557768696
|
|
NM_015102.5(NPHP4):c.3930_3939del (p.Asp1311fs)
|
rs1557580413
|
|
NM_015443.4(KANSL1):c.2902del (p.Gln968fs)
|
rs1374665357
|
|
NM_016592.5(GNAS):c.3G>A (p.Met1Ile)
|
rs1568906610
|
|
NM_017415.3(KLHL3):c.1079G>A (p.Arg360Gln)
|
rs1561586322
|
|
NM_022489.4(INF2):c.254C>T (p.Ser85Leu)
|
rs1317776692
|
|
NM_022489.4(INF2):c.452G>A (p.Cys151Tyr)
|
rs1566778512
|
|
NM_022489.4(INF2):c.530G>A (p.Arg177His)
|
rs1566778651
|
|
NM_022489.4(INF2):c.530G>C (p.Arg177Pro)
|
rs1566778651
|
|
NM_022489.4(INF2):c.89T>G (p.Leu30Arg)
|
rs1566777417
|
|
NM_024426.6(WT1):c.1448G>A (p.Ser483Asn)
|
rs1564967706
|
|
NM_024529.5(CDC73):c.430G>T (p.Glu144Ter)
|
rs1558283535
|
|
NM_033380.3(COL4A5):c.1508G>T (p.Gly503Val)
|
rs1569493679
|
|
NM_033380.3(COL4A5):c.1607G>A (p.Gly536Asp)
|
rs104886125
|
|
NM_033380.3(COL4A5):c.2332G>A (p.Gly778Ser)
|
rs104886174
|
|
NM_033380.3(COL4A5):c.2804G>A (p.Gly935Asp)
|
rs104886195
|
|
NM_033380.3(COL4A5):c.2965_2982del (p.Asp989_Gly994del)
|
rs104886374
|
|
NM_033380.3(COL4A5):c.3017G>A (p.Gly1006Asp)
|
rs104886202
|
|
NM_033380.3(COL4A5):c.3170G>T (p.Gly1057Val)
|
rs1569499010
|
|
NM_033380.3(COL4A5):c.3310G>T (p.Gly1104Cys)
|
rs1569504072
|
|
NM_033380.3(COL4A5):c.3409G>T (p.Gly1137Cys)
|
rs1569505374
|
|
NM_033380.3(COL4A5):c.3427G>A (p.Gly1143Ser)
|
rs104886228
|
|
NM_033380.3(COL4A5):c.3685G>A (p.Gly1229Ser)
|
rs1569505771
|
|
NM_033380.3(COL4A5):c.395G>A (p.Gly132Glu)
|
rs1569488841
|
|
NM_033380.3(COL4A5):c.4159_4170del (p.Pro1387_Pro1390del)
|
rs1569507550
|
|
NM_033380.3(COL4A5):c.4315G>C (p.Gly1439Arg)
|
rs1569508169
|
|
NM_033380.3(COL4A5):c.530G>A (p.Gly177Asp)
|
rs1569489328
|
|
NM_033380.3(COL4A5):c.546+4_546+7del
|
rs1569489348
|
|
NM_033380.3(COL4A5):c.698G>C (p.Gly233Ala)
|
rs1569490592
|
|
NM_170784.3(MKKS):c.624_625del (p.Arg208fs)
|
rs762613490
|
|
NM_213606.4(SLC16A12):c.662del (p.Gly221fs)
|
rs1564568546
|
|