NM_000338.3(SLC12A1):c.347G>A (p.Arg116His)
|
rs34819316
|
0.00334
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)
|
rs121912691
|
0.00175
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys)
|
rs200179145
|
0.00044
|
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)
|
rs201697532
|
0.00039
|
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg)
|
rs149798764
|
0.00024
|
NM_014270.5(SLC7A9):c.368C>T (p.Thr123Met)
|
rs79987078
|
0.00023
|
NM_006580.4(CLDN16):c.458A>G (p.Asn153Ser)
|
rs201367228
|
0.00021
|
NM_014669.5(NUP93):c.1772G>T (p.Gly591Val)
|
rs145473779
|
0.00014
|
NM_001126108.2(SLC12A3):c.1964G>A (p.Arg655His)
|
rs121909380
|
0.00011
|
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)
|
rs140511594
|
0.00011
|
NM_000341.4(SLC3A1):c.647C>T (p.Thr216Met)
|
rs369641941
|
0.00009
|
NM_001081.4(CUBN):c.9053A>C (p.Tyr3018Ser)
|
rs370778353
|
0.00009
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
NM_000085.5(CLCNKB):c.610G>A (p.Ala204Thr)
|
rs121909132
|
0.00006
|
NM_000091.5(COL4A3):c.4649T>G (p.Val1550Gly)
|
rs200655479
|
0.00006
|
NM_000085.5(CLCNKB):c.1270G>A (p.Gly424Arg)
|
rs769163950
|
0.00004
|
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg)
|
rs569681869
|
0.00004
|
NM_014270.5(SLC7A9):c.997C>T (p.Arg333Trp)
|
rs121908484
|
0.00004
|
NM_024876.4(COQ8B):c.737G>A (p.Ser246Asn)
|
rs200841458
|
0.00004
|
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu)
|
rs758352210
|
0.00004
|
NM_020975.6(RET):c.2656C>T (p.Arg886Trp)
|
rs146838520
|
0.00003
|
NM_148960.3(CLDN19):c.59G>A (p.Gly20Asp)
|
rs118203979
|
0.00003
|
NM_138694.4(PKHD1):c.9107T>G (p.Val3036Gly)
|
rs893497345
|
0.00002
|
NM_000091.5(COL4A3):c.4826G>A (p.Arg1609Gln)
|
rs1380878336
|
0.00001
|
NM_000091.5(COL4A3):c.4996A>G (p.Met1666Val)
|
rs759583948
|
0.00001
|
NM_000092.5(COL4A4):c.193G>A (p.Gly65Ser)
|
rs776036994
|
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_001126108.2(SLC12A3):c.1963C>T (p.Arg655Cys)
|
rs747249619
|
0.00001
|
NM_004998.4(MYO1E):c.2481-12A>G
|
rs370209627
|
0.00001
|
NM_017807.4(OSGEP):c.157A>T (p.Ile53Phe)
|
rs780944919
|
0.00001
|
NM_024876.4(COQ8B):c.439T>C (p.Cys147Arg)
|
rs2082092886
|
0.00001
|
NM_025132.4(WDR19):c.1477G>C (p.Asp493His)
|
rs587777349
|
0.00001
|
NM_025132.4(WDR19):c.3703G>A (p.Glu1235Lys)
|
rs587777351
|
0.00001
|
NM_052989.3(IFT122):c.1532T>C (p.Leu511Pro)
|
rs372355939
|
0.00001
|
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His)
|
rs745770404
|
0.00001
|
NM_138694.4(PKHD1):c.2980C>T (p.Arg994Trp)
|
rs757854282
|
0.00001
|
NM_153240.5(NPHP3):c.1871C>T (p.Ser624Phe)
|
rs1939561839
|
0.00001
|
NM_173689.7(CRB2):c.3214C>T (p.Arg1072Cys)
|
rs770448714
|
0.00001
|
NM_000091.5(COL4A3):c.2074G>A (p.Gly692Ser)
|
rs761780956
|
|
NM_000091.5(COL4A3):c.2126G>A (p.Gly709Glu)
|
rs1553759430
|
|
NM_000091.5(COL4A3):c.2153G>C (p.Gly718Ala)
|
rs267599232
|
|
NM_000091.5(COL4A3):c.2275G>A (p.Gly759Arg)
|
rs2071886531
|
|
NM_000091.5(COL4A3):c.2390C>T (p.Pro797Leu)
|
rs1283533086
|
|
NM_000091.5(COL4A3):c.3044G>A (p.Gly1015Glu)
|
rs121912826
|
|
NM_000091.5(COL4A3):c.4045G>A (p.Gly1349Ser)
|
rs2073401281
|
|
NM_000091.5(COL4A3):c.4732T>C (p.Trp1578Arg)
|
rs2073646176
|
|
NM_000091.5(COL4A3):c.547G>T (p.Gly183Cys)
|
rs2069716520
|
|
NM_000091.5(COL4A3):c.725G>A (p.Gly242Glu)
|
rs1574699806
|
|
NM_000092.5(COL4A4):c.1323_1340del (p.Pro444_Leu449del)
|
rs773081522
|
|
NM_000092.5(COL4A4):c.1952G>T (p.Gly651Val)
|
rs2059121113
|
|
NM_000092.5(COL4A4):c.3559G>A (p.Gly1187Arg)
|
rs1968850188
|
|
NM_000092.5(COL4A4):c.3619G>A (p.Gly1207Arg)
|
rs1968585119
|
|
NM_000092.5(COL4A4):c.3688G>T (p.Gly1230Cys)
|
rs781360383
|
|
NM_000092.5(COL4A4):c.4334-23A>G
|
rs766501515
|
|
NM_000092.5(COL4A4):c.4351G>A (p.Gly1451Arg)
|
rs1963420059
|
|
NM_000092.5(COL4A4):c.491G>A (p.Gly164Asp)
|
rs2061397001
|
|
NM_000092.5(COL4A4):c.731A>C (p.Asp244Ala)
|
rs2060993539
|
|
NM_000092.5(COL4A4):c.755G>A (p.Gly252Asp)
|
rs760795817
|
|
NM_000098.3(CPT2):c.251G>A (p.Cys84Tyr)
|
rs909671156
|
|
NM_000196.4(HSD11B2):c.983C>T (p.Ala328Val)
|
rs1453036708
|
|
NM_000214.3(JAG1):c.2914C>G (p.Pro972Ala)
|
rs2067270959
|
|
NM_000278.5(PAX2):c.70G>T (p.Gly24Trp)
|
rs1845366198
|
|
NM_000297.4(PKD2):c.860T>C (p.Leu287Ser)
|
rs1727413505
|
|
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)
|
rs80338708
|
|
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys)
|
rs121912745
|
|
NM_000368.5(TSC1):c.278T>A (p.Leu93Gln)
|
rs118203363
|
|
NM_000458.4(HNF1B):c.1340-3C>G
|
rs2032559501
|
|
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)
|
|
|
NM_000458.4(HNF1B):c.494G>A (p.Arg165His)
|
|
|
NM_000458.4(HNF1B):c.703C>T (p.Arg235Trp)
|
|
|
NM_000458.4(HNF1B):c.884G>C (p.Arg295Pro)
|
|
|
NM_000458.4(HNF1B):c.910A>G (p.Arg304Gly)
|
rs2033692285
|
|
NM_000495.5:c.(3373+1_3374-1)_(3790+1_3791-1)dup
|
|
|
NM_000537.4(REN):c.58T>C (p.Cys20Arg)
|
rs1658347337
|
|
NM_000548.5(TSC2):c.5228G>A (p.Arg1743Gln)
|
rs45507199
|
|
NM_000789.4(ACE):c.2049C>A (p.Ser683Arg)
|
rs148491967
|
|
NM_001009944.3(PKD1):c.10694T>G (p.Leu3565Arg)
|
rs2091727215
|
|
NM_001009944.3(PKD1):c.10946C>G (p.Pro3649Arg)
|
rs2091706289
|
|
NM_001009944.3(PKD1):c.11249_11263del (p.Arg3750_Leu3754del)
|
rs1567154953
|
|
NM_001009944.3(PKD1):c.11258G>A (p.Arg3753Gln)
|
rs1555446330
|
|
NM_001009944.3(PKD1):c.112del (p.Leu38fs)
|
rs2092941002
|
|
NM_001009944.3(PKD1):c.11341_11343del (p.Tyr3781del)
|
rs2091619119
|
|
NM_001009944.3(PKD1):c.11416T>G (p.Trp3806Gly)
|
rs2091602155
|
|
NM_001009944.3(PKD1):c.1154T>C (p.Leu385Pro)
|
rs2092665731
|
|
NM_001009944.3(PKD1):c.1265T>C (p.Leu422Pro)
|
rs2092661241
|
|
NM_001009944.3(PKD1):c.1543G>T (p.Gly515Trp)
|
rs1555458704
|
|
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp)
|
rs1555458413
|
|
NM_001009944.3(PKD1):c.2078_2089dup (p.Ala696_Gln697insArgProProAla)
|
rs2092614761
|
|
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.2534T>C (p.Leu845Ser)
|
rs199476100
|
|
NM_001009944.3(PKD1):c.3022_3039del (p.Asn1008_Val1013del)
|
rs1567207029
|
|
NM_001009944.3(PKD1):c.380T>G (p.Phe127Cys)
|
rs2092679766
|
|
NM_001009944.3(PKD1):c.6124G>C (p.Ala2042Pro)
|
rs556681288
|
|
NM_001009944.3(PKD1):c.6701T>A (p.Val2234Glu)
|
rs2092417183
|
|
NM_001009944.3(PKD1):c.7301_7312dup (p.Arg2434_Val2437dup)
|
rs2092343785
|
|
NM_001009944.3(PKD1):c.7703G>A (p.Arg2568Lys)
|
rs2092327300
|
|
NM_001009944.3(PKD1):c.9365T>G (p.Ile3122Ser)
|
rs2092119998
|
|
NM_001009944.3(PKD1):c.9454C>G (p.Arg3152Gly)
|
rs776866974
|
|
NM_001081.4(CUBN):c.5840C>A (p.Ser1947Tyr)
|
rs147617753
|
|
NM_001081.4(CUBN):c.7968_7969delinsTGTTATACCTTATATAA (p.Leu2656_Pro2657delinsPheValIleProTyrIleThr)
|
rs2131430377
|
|
NM_001127898.4(CLCN5):c.1756C>T (p.Arg586Trp)
|
rs797044812
|
|
NM_001142966.3(GREB1L):c.5074G>T (p.Asp1692Tyr)
|
rs2037388926
|
|
NM_001845.6(COL4A1):c.1793G>T (p.Gly598Val)
|
rs1878411691
|
|
NM_001845.6(COL4A1):c.4151G>A (p.Gly1384Asp)
|
rs1877185960
|
|
NM_002473.6(MYH9):c.287C>T (p.Ser96Leu)
|
rs121913657
|
|
NM_003361.4(UMOD):c.189C>G (p.Cys63Trp)
|
rs1199326518
|
|
NM_004621.6(TRPC6):c.2641G>T (p.Glu881Ter)
|
rs1858816107
|
|
NM_014140.4(SMARCAL1):c.1736C>T (p.Ser579Leu)
|
rs1694331040
|
|
NM_014625.4(NPHS2):c.953_955del (p.Ala318del)
|
rs1427261340
|
|
NM_015102.5(NPHP4):c.4115T>C (p.Leu1372Pro)
|
rs765043646
|
|
NM_017807.4(OSGEP):c.81C>G (p.Asn27Lys)
|
rs1881216647
|
|
NM_022489.4(INF2):c.605A>G (p.Asn202Ser)
|
rs2140648522
|
|
NM_024876.4(COQ8B):c.748G>C (p.Asp250His)
|
rs769834604
|
|
NM_025132.4(WDR19):c.1442A>G (p.His481Arg)
|
rs1729264976
|
|
NM_025132.4(WDR19):c.2741C>A (p.Ala914Asp)
|
rs766616967
|
|
NM_033380.3(COL4A5):c.1234G>C (p.Gly412Arg)
|
rs2066425897
|
|
NM_033380.3(COL4A5):c.1481G>A (p.Gly494Asp)
|
rs104886118
|
|
NM_033380.3(COL4A5):c.1643G>A (p.Gly548Asp)
|
rs281874673
|
|
NM_033380.3(COL4A5):c.1826G>C (p.Gly609Ala)
|
rs104886140
|
|
NM_033380.3(COL4A5):c.2668G>A (p.Gly890Arg)
|
rs2067018186
|
|
NM_033380.3(COL4A5):c.2677G>A (p.Gly893Ser)
|
rs1569497776
|
|
NM_033380.3(COL4A5):c.3373G>A (p.Gly1125Arg)
|
rs2067822565
|
|
NM_033380.3(COL4A5):c.3659G>A (p.Gly1220Asp)
|
rs104886251
|
|
NM_033380.3(COL4A5):c.4316-20T>A
|
rs2068567564
|
|
NM_033380.3(COL4A5):c.466-12G>A
|
rs104886414
|
|
NM_033380.3(COL4A5):c.834del (p.Gly279fs)
|
rs2066227699
|
|
NM_033380.3(COL4A5):c.983G>A (p.Gly328Asp)
|
rs2066274585
|
|
NM_052989.3(IFT122):c.896G>A (p.Gly299Asp)
|
rs2077955754
|
|
NM_138694.4(PKHD1):c.5903T>G (p.Ile1968Ser)
|
rs1791737049
|
|
NM_138694.4(PKHD1):c.7592T>C (p.Leu2531Pro)
|
rs1775360219
|
|
NM_138694.4(PKHD1):c.790G>A (p.Val264Met)
|
rs1809647915
|
|
NM_138694.4(PKHD1):c.8012G>C (p.Arg2671Pro)
|
rs778592523
|
|
NM_138694.4(PKHD1):c.8312T>C (p.Val2771Ala)
|
rs1793719203
|
|
NM_138694.4(PKHD1):c.842G>A (p.Gly281Glu)
|
rs1809634616
|
|
NM_138694.4(PKHD1):c.8893T>C (p.Cys2965Arg)
|
rs770068023
|
|
NM_144596.4(TTC8):c.69del (p.Cys23fs)
|
rs2094690718
|
|
NM_148960.3(CLDN19):c.530T>G (p.Leu177Arg)
|
rs1651357824
|
|
NM_152618.3(BBS12):c.1616G>A (p.Gly539Asp)
|
rs755314355
|
|
NM_153240.5(NPHP3):c.326TGT[1] (p.Leu110del)
|
rs753616848
|
|
NM_153704.6(TMEM67):c.517T>C (p.Cys173Arg)
|
rs138783896
|
|
NM_153704.6(TMEM67):c.551G>A (p.Cys184Tyr)
|
rs1813039419
|
|
NM_178170.3(NEK8):c.322TTC[1] (p.Phe109del)
|
rs772543894
|
|