NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys)
|
rs144979397
|
0.00495
|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00245
|
NM_001081.4(CUBN):c.6125-2A>G
|
rs75386064
|
0.00226
|
NM_001081.4(CUBN):c.6225G>A (p.Ser2075=)
|
rs75737363
|
0.00182
|
NM_001081.4(CUBN):c.8894T>C (p.Phe2965Ser)
|
rs117620008
|
0.00133
|
NM_001009944.3(PKD1):c.9499A>T (p.Ile3167Phe)
|
rs139945204
|
0.00125
|
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr)
|
rs149253719
|
0.00078
|
NM_001006658.3(CR2):c.2298G>A (p.Trp766Ter)
|
rs151093663
|
0.00063
|
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr)
|
rs74315448
|
0.00063
|
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)
|
rs104894845
|
0.00039
|
NM_001369.3(DNAH5):c.962C>T (p.Ser321Leu)
|
rs201077964
|
0.00038
|
NM_022489.4(INF2):c.2509C>T (p.Arg837Cys)
|
rs201534539
|
0.00031
|
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)
|
rs148147581
|
0.00026
|
NM_000064.4(C3):c.1873A>T (p.Ile625Phe)
|
rs144432231
|
0.00021
|
NM_012120.3(CD2AP):c.682C>T (p.Arg228Trp)
|
rs150851309
|
0.00021
|
NM_001081.4(CUBN):c.5428C>T (p.Arg1810Ter)
|
rs143944436
|
0.00019
|
NM_001710.6(CFB):c.1407C>G (p.Ile469Met)
|
rs201798809
|
0.00019
|
NM_004621.6(TRPC6):c.428A>G (p.Asn143Ser)
|
rs121434391
|
0.00018
|
NM_001999.4(FBN2):c.7700C>T (p.Thr2567Ile)
|
rs150672907
|
0.00017
|
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)
|
rs200287952
|
0.00016
|
NM_014140.4(SMARCAL1):c.2114C>T (p.Thr705Ile)
|
rs200644381
|
0.00015
|
NM_003041.4(SLC5A2):c.885+5G>A
|
rs200228142
|
0.00014
|
NM_014669.5(NUP93):c.1772G>T (p.Gly591Val)
|
rs145473779
|
0.00014
|
NM_014140.4(SMARCAL1):c.2542G>T (p.Glu848Ter)
|
rs119473033
|
0.00013
|
NM_030653.4(DDX11):c.1403dup (p.Ser469fs)
|
rs778363138
|
0.00013
|
NM_033380.3(COL4A5):c.488T>C (p.Met163Thr)
|
rs142503631
|
0.00012
|
NM_000088.4(COL1A1):c.77G>A (p.Gly26Asp)
|
rs151171179
|
0.00011
|
NM_000388.4(CASR):c.848T>C (p.Ile283Thr)
|
rs142745096
|
0.00007
|
NM_022489.4(INF2):c.*1+1G>C
|
rs758452999
|
0.00007
|
NM_002473.6(MYH9):c.5456T>G (p.Leu1819Arg)
|
rs368440234
|
0.00006
|
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro)
|
rs104894205
|
0.00006
|
NM_030653.4(DDX11):c.1672C>T (p.Arg558Ter)
|
rs201180239
|
0.00005
|
NM_014140.4(SMARCAL1):c.1147+8G>A
|
rs759562755
|
0.00004
|
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp)
|
rs398122978
|
0.00004
|
NM_054012.4(ASS1):c.847G>A (p.Glu283Lys)
|
rs765338121
|
0.00004
|
NM_001009944.3(PKD1):c.9970G>A (p.Ala3324Thr)
|
rs1422578175
|
0.00003
|
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter)
|
rs374417889
|
0.00003
|
NM_001297.5(CNGB1):c.2893-7G>A
|
rs749199721
|
0.00003
|
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln)
|
rs773450573
|
0.00003
|
NM_000091.5(COL4A3):c.1295C>T (p.Pro432Leu)
|
rs534253913
|
0.00002
|
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)
|
rs772708743
|
0.00002
|
NM_000135.4(FANCA):c.2778+1G>A
|
rs140180549
|
0.00002
|
NM_016341.4(PLCE1):c.1223G>T (p.Arg408Ile)
|
rs752029771
|
0.00002
|
NM_033380.3(COL4A5):c.5048G>A (p.Arg1683Gln)
|
rs104886308
|
0.00002
|
NM_000091.5(COL4A3):c.4826G>A (p.Arg1609Gln)
|
rs1380878336
|
0.00001
|
NM_000091.5(COL4A3):c.765G>A (p.Thr255=)
|
rs869025328
|
0.00001
|
NM_000159.4(GCDH):c.482G>A (p.Arg161Gln)
|
rs777201305
|
0.00001
|
NM_000260.4(MYO7A):c.3892G>A (p.Gly1298Arg)
|
rs727503329
|
0.00001
|
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter)
|
rs587778617
|
0.00001
|
NM_001042492.3(NF1):c.278G>A (p.Cys93Tyr)
|
rs199474728
|
0.00001
|
NM_004621.6(TRPC6):c.524G>A (p.Arg175Gln)
|
rs1451194842
|
0.00001
|
NM_004646.4(NPHS1):c.808G>T (p.Gly270Cys)
|
rs386833961
|
0.00001
|
NM_004924.6(ACTN4):c.236G>A (p.Arg79Gln)
|
rs759055242
|
0.00001
|
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp)
|
rs74315348
|
0.00001
|
NM_033380.3(COL4A5):c.3508G>A (p.Gly1170Ser)
|
rs104886237
|
0.00001
|
NM_138413.4(HOGA1):c.123del (p.Pro41_Val42insTer)
|
rs1419840309
|
0.00001
|
NM_138694.4(PKHD1):c.2980C>T (p.Arg994Trp)
|
rs757854282
|
0.00001
|
NM_145207.3(AFG2A):c.1586G>A (p.Arg529Gln)
|
rs567175477
|
0.00001
|
NM_201548.5(CERKL):c.239-2A>G
|
rs776886395
|
0.00001
|
NM_206933.4(USH2A):c.9258+1G>A
|
rs748810737
|
0.00001
|
NM_000018.4(ACADVL):c.864del (p.Phe288fs)
|
rs1555528386
|
|
NM_000035.4(ALDOB):c.865del (p.Leu289fs)
|
rs864309533
|
|
NM_000038.6(APC):c.2677G>T (p.Glu893Ter)
|
rs199740875
|
|
NM_000059.4(BRCA2):c.3739del (p.Ile1247fs)
|
rs886040494
|
|
NM_000063.6(C2):c.841_849+19del
|
rs9332736
|
|
NM_000071.3(CBS):c.434C>T (p.Pro145Leu)
|
rs121964963
|
|
NM_000091.5(COL4A3):c.1559G>A (p.Gly520Asp)
|
rs1574745989
|
|
NM_000091.5(COL4A3):c.3546_3548dup (p.Gly1183dup)
|
rs1175052474
|
|
NM_000092.5(COL4A4):c.594+1G>A
|
rs1553690565
|
|
NM_000141.5(FGFR2):c.1694A>C (p.Glu565Ala)
|
rs121918506
|
|
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)
|
rs28933068
|
|
NM_000169.3(GLA):c.1055C>G (p.Ala352Gly)
|
rs869312162
|
|
NM_000186.4(CFH):c.2697T>A (p.Tyr899Ter)
|
rs121913057
|
|
NM_000186.4(CFH):c.2950T>C (p.Cys984Arg)
|
rs886039869
|
|
NM_000186.4(CFH):c.58G>A (p.Asp20Asn)
|
rs1553270437
|
|
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp)
|
rs199473411
|
|
NM_000218.3(KCNQ1):c.355G>C (p.Gly119Arg)
|
rs1325525794
|
|
NM_000218.3(KCNQ1):c.775C>T (p.Arg259Cys)
|
rs199472719
|
|
NM_000249.4(MLH1):c.2041G>A (p.Ala681Thr)
|
rs63750217
|
|
NM_000283.4(PDE6B):c.1832+1G>T
|
rs370758397
|
|
NM_000390.4(CHM):c.22G>T (p.Glu8Ter)
|
rs1603288832
|
|
NM_000444.6(PHEX):c.1768+173A>G
|
rs1602402549
|
|
NM_000458.4(HNF1B):c.544+3_544+6del
|
rs2033925649
|
|
NM_000478.6(ALPL):c.1001G>A (p.Gly334Asp)
|
rs121918009
|
|
NM_000503.6(EYA1):c.1044T>G (p.Tyr348Ter)
|
rs1554615511
|
|
NM_000642.3(AGL):c.378T>A (p.Cys126Ter)
|
rs1553183359
|
|
NM_000642.3(AGL):c.772T>C (p.Ser258Pro)
|
rs886039873
|
|
NM_000709.4(BCKDHA):c.661_664del (p.Tyr221fs)
|
rs796051938
|
|
NM_001009944.3(PKD1):c.10698GGCTGT[4] (p.3567AV[4])
|
rs777460677
|
|
NM_001009944.3(PKD1):c.10951G>A (p.Gly3651Ser)
|
rs2091705970
|
|
NM_001009944.3(PKD1):c.11375C>A (p.Ser3792Ter)
|
rs770667157
|
|
NM_001009944.3(PKD1):c.11563_11564del (p.Thr3855fs)
|
rs1555445585
|
|
NM_001009944.3(PKD1):c.12489_12490del (p.Arg4164fs)
|
rs2091411664
|
|
NM_001009944.3(PKD1):c.1261C>T (p.Arg421Cys)
|
rs1567216536
|
|
NM_001009944.3(PKD1):c.6683A>G (p.Tyr2228Cys)
|
rs1596550613
|
|
NM_001009944.3(PKD1):c.8203_8204del (p.Gln2735fs)
|
rs1596527744
|
|
NM_001009944.3(PKD1):c.896_897del (p.Pro299fs)
|
rs1555459084
|
|
NM_001025295.3(IFITM5):c.-14C>T
|
rs587776916
|
|
NM_001042492.3(NF1):c.15del (p.Arg5fs)
|
rs1057516197
|
|
NM_001042492.3(NF1):c.2329T>G (p.Trp777Gly)
|
rs876658853
|
|
NM_001042492.3(NF1):c.2540T>C (p.Leu847Pro)
|
rs199474747
|
|
NM_001042492.3(NF1):c.3708+1G>A
|
rs1420779915
|
|
NM_001081.4(CUBN):c.5511dup (p.Gly1838fs)
|
rs1168074679
|
|
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)
|
rs1555408401
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001142800.2(EYS):c.8830del (p.Val2944fs)
|
rs776526721
|
|
NM_001199563.2(POPDC1):c.457C>T (p.Gln153Ter)
|
rs1562137622
|
|
NM_001282225.2(ADA2):c.1269C>G (p.Asn423Lys)
|
rs1226708979
|
|
NM_002968.3(SALL1):c.2050C>T (p.Gln684Ter)
|
rs1597229404
|
|
NM_003718.5(CDK13):c.484dup (p.Ala162fs)
|
rs1405252481
|
|
NM_003722.5(TP63):c.797G>A (p.Arg266Gln)
|
rs121908849
|
|
NM_004183.4(BEST1):c.424_426dup (p.Ser142_Val143insSer)
|
rs1591284563
|
|
NM_004183.4(BEST1):c.658C>T (p.Gln220Ter)
|
rs775283269
|
|
NM_004453.4(ETFDH):c.1141G>C (p.Gly381Arg)
|
rs1466787789
|
|
NM_004621.6(TRPC6):c.518A>G (p.Tyr173Cys)
|
rs1555003819
|
|
NM_004646.4(NPHS1):c.2869G>A (p.Val957Met)
|
rs114849139
|
|
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs)
|
rs386833935
|
|
NM_005629.4(SLC6A8):c.626_627del (p.Pro209fs)
|
rs1603215223
|
|
NM_007327.4(GRIN1):c.2444G>A (p.Gly815Glu)
|
rs1833698535
|
|
NM_012120.3(CD2AP):c.1569AGA[2] (p.Glu525del)
|
rs545551160
|
|
NM_014140.4(SMARCAL1):c.1930C>T (p.Arg644Trp)
|
rs1313658611
|
|
NM_014140.4(SMARCAL1):c.2427+1G>A
|
rs1559138455
|
|
NM_014625.4(NPHS2):c.115C>T (p.Gln39Ter)
|
rs869312746
|
|
NM_014625.4(NPHS2):c.586C>T (p.Arg196Ter)
|
rs12568913
|
|
NM_014625.4(NPHS2):c.823dup (p.Gln275fs)
|
rs1572262824
|
|
NM_014956.5(CEP164):c.2992C>T (p.Arg998Ter)
|
rs1323529877
|
|
NM_015506.3(MMACHC):c.82-11_82-8del
|
rs751236442
|
|
NM_016373.4(WWOX):c.606-1G>A
|
rs730882215
|
|
NM_020964.3(EPG5):c.6752del (p.Val2251fs)
|
rs1057516194
|
|
NM_021939.4(FKBP10):c.831dup (p.Gly278fs)
|
rs137853883
|
|
NM_022356.4(P3H1):c.570_571del (p.Gly191fs)
|
rs1553143741
|
|
NM_022489.4(INF2):c.658G>A (p.Glu220Lys)
|
rs530391015
|
|
NM_024426.6(WT1):c.1388G>A (p.Arg463Gln)
|
rs1037084691
|
|
NM_032856.5(WDR73):c.287G>A (p.Arg96Lys)
|
rs797044995
|
|
NM_033380.3(COL4A5):c.2165G>A (p.Gly722Glu)
|
rs104886163
|
|
NM_033380.3(COL4A5):c.3197G>A (p.Gly1066Asp)
|
rs104886221
|
|
NM_033380.3(COL4A5):c.3410G>A (p.Gly1137Asp)
|
rs1131691795
|
|
NM_033380.3(COL4A5):c.4706G>A (p.Arg1569Gln)
|
rs281874743
|
|
NM_138694.4(PKHD1):c.662A>G (p.Tyr221Cys)
|
rs1554223332
|
|
NM_172351.3(CD46):c.714_715del (p.Gln238fs)
|
rs1571616755
|
|
NM_175914.5(HNF4A):c.640T>A (p.Ser214Thr)
|
rs1060499693
|
|
NM_183050.4(BCKDHB):c.365C>A (p.Thr122Asn)
|
rs398124575
|
|
NM_206933.4(USH2A):c.409dup (p.Ser137fs)
|
rs1571805164
|
|