NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr)
|
rs79389353
|
0.00238
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
NM_000361.3(THBD):c.1483C>T (p.Pro495Ser)
|
rs1800578
|
0.00057
|
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)
|
rs74315342
|
0.00054
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_001126108.2(SLC12A3):c.2221G>A (p.Gly741Arg)
|
rs138977195
|
0.00041
|
NM_001126108.2(SLC12A3):c.2856+1G>T
|
rs199974259
|
0.00024
|
NM_000186.4(CFH):c.3628C>T (p.Arg1210Cys)
|
rs121913059
|
0.00019
|
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg)
|
rs121908480
|
0.00017
|
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)
|
rs144972972
|
0.00013
|
NM_001134831.2(AHI1):c.1267C>T (p.Gln423Ter)
|
rs777668842
|
0.00012
|
NM_000092.5(COL4A4):c.2906C>G (p.Ser969Ter)
|
rs35138315
|
0.00011
|
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)
|
rs140511594
|
0.00011
|
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys)
|
rs74315396
|
0.00011
|
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter)
|
rs267606919
|
0.00010
|
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser)
|
rs759377924
|
0.00009
|
NM_014425.5(INVS):c.2695C>T (p.Arg899Ter)
|
rs200844390
|
0.00009
|
NM_014714.4(IFT140):c.634G>A (p.Gly212Arg)
|
rs201188361
|
0.00008
|
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys)
|
rs386833909
|
0.00006
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
NM_000064.4(C3):c.193A>C (p.Lys65Gln)
|
rs539992721
|
0.00005
|
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg)
|
rs34803727
|
0.00005
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
NM_004646.4(NPHS1):c.2928G>T (p.Arg976Ser)
|
rs138656762
|
0.00004
|
NM_015102.5(NPHP4):c.3010dup (p.Thr1004fs)
|
rs748950922
|
0.00004
|
NM_025074.7(FRAS1):c.4843+2T>C
|
rs370018000
|
0.00004
|
NM_153704.6(TMEM67):c.1046T>C (p.Leu349Ser)
|
rs386834180
|
0.00004
|
NM_172351.3(CD46):c.286+2T>G
|
rs769742294
|
0.00004
|
NM_001377.3(DYNC2H1):c.10042+2T>G
|
rs1261505725
|
0.00002
|
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)
|
rs104886308
|
0.00002
|
NM_000030.3(AGXT):c.364C>T (p.Arg122Ter)
|
rs180177210
|
0.00001
|
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter)
|
rs121912861
|
0.00001
|
NM_001038.6(SCNN1A):c.574del (p.Arg192fs)
|
rs767638989
|
0.00001
|
NM_001126108.2(SLC12A3):c.3025C>T (p.Arg1009Ter)
|
rs781209989
|
0.00001
|
NM_001126108.2(SLC12A3):c.506-1G>A
|
rs201555148
|
0.00001
|
NM_004646.4(NPHS1):c.2131C>A (p.Arg711Ser)
|
rs764181464
|
0.00001
|
NM_004646.4(NPHS1):c.2596C>T (p.Arg866Ter)
|
rs386833920
|
0.00001
|
NM_012203.2(GRHPR):c.295C>T (p.Arg99Ter)
|
rs119490108
|
0.00001
|
NM_014425.5(INVS):c.464G>A (p.Trp155Ter)
|
rs1007394906
|
0.00001
|
NM_014625.4(NPHS2):c.503G>A (p.Arg168His)
|
rs530318579
|
0.00001
|
NM_015102.5(NPHP4):c.1228C>T (p.Gln410Ter)
|
rs1237376396
|
0.00001
|
NM_015102.5(NPHP4):c.3766C>T (p.Gln1256Ter)
|
rs775612958
|
0.00001
|
NM_025074.7(FRAS1):c.7551T>A (p.Tyr2517Ter)
|
rs745597204
|
0.00001
|
NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp)
|
rs180177156
|
|
NM_000064.4(C3):c.3470T>C (p.Ile1157Thr)
|
rs1918142335
|
|
NM_000091.5(COL4A3):c.1184G>A (p.Gly395Glu)
|
rs1131691738
|
|
NM_000091.5(COL4A3):c.1822G>A (p.Gly608Arg)
|
rs2071334080
|
|
NM_000091.5(COL4A3):c.2621del (p.Gly874fs)
|
rs759043857
|
|
NM_000091.5(COL4A3):c.4546C>T (p.Arg1516Ter)
|
rs759873621
|
|
NM_000092.5(COL4A4):c.4470del (p.Tyr1491fs)
|
rs1963392922
|
|
NM_000092.5(COL4A4):c.555dup (p.Gln186fs)
|
rs2061393958
|
|
NM_000186.4(CFH):c.1574G>A (p.Trp525Ter)
|
rs1328357943
|
|
NM_000186.4(CFH):c.3398C>G (p.Ser1133Ter)
|
rs1652987369
|
|
NM_000186.4(CFH):c.3493+2T>C
|
rs1652989506
|
|
NM_000186.4(CFH):c.3643C>G (p.Arg1215Gly)
|
rs121913051
|
|
NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs)
|
rs727504412
|
|
NM_000278.5(PAX2):c.76dup (p.Val26fs)
|
rs75462234
|
|
NM_000339.2:c.(2951+1_2952-1)_(*1_?)del
|
|
|
NM_000342.4(SLC4A1):c.1765C>T (p.Arg589Cys)
|
rs121912745
|
|
NM_000388.4(CASR):c.2363T>G (p.Phe788Cys)
|
rs104893701
|
|
NM_000458.4(HNF1B):c.443C>T (p.Ser148Leu)
|
|
|
NM_000458.4(HNF1B):c.826C>T (p.Arg276Ter)
|
|
|
NM_000486.6(AQP2):c.375del (p.Thr126fs)
|
rs764380594
|
|
NM_000503.5(EYA1):c.557del
|
rs1819990660
|
|
NM_001031681.2:c.(225+1_226-1)_(852+1_853-1)del
|
|
|
NM_001040142.2(SCN2A):c.781G>A (p.Val261Met)
|
rs1057520413
|
|
NM_001126108.2(SLC12A3):c.1314C>G (p.Tyr438Ter)
|
rs776210036
|
|
NM_001127898.4(CLCN5):c.2362C>T (p.Arg788Ter)
|
rs797044814
|
|
NM_001127898.4(CLCN5):c.604-2A>G
|
rs1933652537
|
|
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs)
|
rs766524637
|
|
NM_001134831.2(AHI1):c.2246C>G (p.Ser749Ter)
|
rs766069291
|
|
NM_001174147.2(LMX1B):c.737G>A (p.Arg246Gln)
|
rs1191455921
|
|
NM_002292.4(LAMB2):c.4519C>T (p.Gln1507Ter)
|
rs974891221
|
|
NM_004621.6(TRPC6):c.2683C>T (p.Arg895Cys)
|
rs121434394
|
|
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs)
|
rs386833935
|
|
NM_004937.3(CTNS):c.559_561+24del
|
rs113994211
|
|
NM_015102.5(NPHP4):c.1998_1999del (p.Tyr667fs)
|
rs1644833186
|
|
NM_017909.4(RMND1):c.829_830+2del
|
rs1780336606
|
|
NM_024685.4(BBS10):c.931T>G (p.Ser311Ala)
|
rs137852837
|
|
NM_030787.3:c.(58+1_59-1)_(430+1_431-1)dup
|
|
|
NM_033380.3(COL4A5):c.1166-1G>A
|
rs1569492951
|
|
NM_033380.3(COL4A5):c.1226G>A (p.Gly409Asp)
|
rs104886101
|
|
NM_033380.3(COL4A5):c.1643G>A (p.Gly548Asp)
|
rs281874673
|
|
NM_033380.3(COL4A5):c.1763_1779+3del
|
rs2066542728
|
|
NM_033380.3(COL4A5):c.1807G>A (p.Gly603Ser)
|
rs1603290681
|
|
NM_033380.3(COL4A5):c.1815del (p.Asn607fs)
|
rs2066568818
|
|
NM_033380.3(COL4A5):c.2201del (p.Gly734fs)
|
rs2066663117
|
|
NM_033380.3(COL4A5):c.2387G>A (p.Gly796Glu)
|
rs1569495819
|
|
NM_033380.3(COL4A5):c.2605G>A (p.Gly869Arg)
|
rs104886189
|
|
NM_033380.3(COL4A5):c.2678G>C (p.Gly893Ala)
|
rs397515496
|
|
NM_033380.3(COL4A5):c.2686G>A (p.Gly896Ser)
|
rs1556420349
|
|
NM_033380.3(COL4A5):c.3310G>C (p.Gly1104Arg)
|
rs1569504072
|
|
NM_033380.3(COL4A5):c.3374-1G>A
|
rs2068058963
|
|
NM_033380.3(COL4A5):c.3556C>T (p.Gln1186Ter)
|
rs1381117009
|
|
NM_033380.3(COL4A5):c.3632G>A (p.Gly1211Glu)
|
rs104886247
|
|
NM_033380.3(COL4A5):c.3883C>T (p.Gln1295Ter)
|
rs2068330799
|
|
NM_033380.3(COL4A5):c.3942+2T>C
|
rs2068333361
|
|
NM_033380.3(COL4A5):c.4376dup (p.Gly1460fs)
|
rs2068571470
|
|
NM_033380.3(COL4A5):c.4705C>T (p.Arg1569Ter)
|
rs104886286
|
|
NM_033380.3(COL4A5):c.4769C>A (p.Pro1590His)
|
rs281874747
|
|
NM_033380.3(COL4A5):c.687+1G>A
|
rs104886440
|
|
NM_033380.3(COL4A5):c.757delinsCT (p.Val253fs)
|
rs2066189282
|
|
NM_033380.3(COL4A5):c.796C>T (p.Arg266Ter)
|
rs104886071
|
|
NM_153704.6(TMEM67):c.2301del (p.Asp768fs)
|
rs386834191
|
|
NM_170784.3(MKKS):c.592_593del (p.Lys198fs)
|
rs2064903228
|
|
NM_172351.3(CD46):c.476-1G>A
|
rs1441390681
|
|
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp)
|
rs587777732
|
|