NM_022124.6(CDH23):c.*349A>G
|
rs1867978
|
0.77194
|
NM_000231.3(SGCG):c.705T>C (p.Leu235=)
|
rs1800353
|
0.60006
|
NM_000243.3(MEFV):c.*836_*837insACT
|
rs34895148
|
0.58327
|
NM_000231.3(SGCG):c.*295T>C
|
rs3829352
|
0.37163
|
NM_014363.6(SACS):c.*484T>C
|
rs4770433
|
0.36808
|
NM_014363.6(SACS):c.9981T>C (p.Ala3327=)
|
rs2737700
|
0.36123
|
NM_000751.3(CHRND):c.*885T>C
|
rs1004175
|
0.34980
|
NM_002778.4(PSAP):c.*891G>A
|
rs7869
|
0.34207
|
NM_000751.3(CHRND):c.*52A>G
|
rs2767
|
0.34088
|
NM_000231.3(SGCG):c.*254G>A
|
rs3751371
|
0.31172
|
NM_014363.6(SACS):c.-13A>G
|
rs17078720
|
0.27905
|
NM_014363.6(SACS):c.6195T>C (p.Ile2065=)
|
rs4143768
|
0.21785
|
NM_014363.6(SACS):c.8853T>C (p.Val2951=)
|
rs9552929
|
0.21755
|
NM_014363.6(SACS):c.10106T>C (p.Val3369Ala)
|
rs17078605
|
0.21747
|
NM_014363.6(SACS):c.12304T>C (p.Leu4102=)
|
rs2737699
|
0.21736
|
NM_173477.5(USH1G):c.*1303C>T
|
rs1013013
|
0.20471
|
NM_005422.4(TECTA):c.2795T>C (p.Val932Ala)
|
rs520805
|
0.20376
|
NM_005199.5(CHRNG):c.507-13C>T
|
rs2853462
|
0.20012
|
NM_031885.3(BBS2):c.-239G>A
|
rs2303284
|
0.19980
|
NM_152618.3(BBS12):c.*187dup
|
rs386401352
|
0.19865
|
NM_015910.6(WDPCP):c.-396T>G
|
rs2278718
|
0.19689
|
NM_173477.5(USH1G):c.*1093=
|
rs690566
|
0.19308
|
NM_004937.3(CTNS):c.*1031_*1033dup
|
rs1355863772
|
0.18984
|
NM_002778.4(PSAP):c.1350+5G>A
|
rs11000016
|
0.16762
|
NM_013382.7(POMT2):c.1654-6A>G
|
rs4540995
|
0.14330
|
NM_022124.6(CDH23):c.*204A>G
|
rs2290022
|
0.13799
|
NM_015311.3(OBSL1):c.-42del
|
rs757193063
|
0.13587
|
NM_014363.6(SACS):c.171+6C>T
|
rs3751368
|
0.13441
|
NM_001367624.2(ZNF469):c.*845T>C
|
rs7187709
|
0.13371
|
NM_004744.5(LRAT):c.*2670G>T
|
rs17032000
|
0.13064
|
NM_001077365.2(POMT1):c.699+52C>T
|
rs3887873
|
0.12205
|
NM_000271.4(NPC1):c.-238C>G
|
rs8099071
|
0.11990
|
NM_003619.4(PRSS12):c.*1504G>A
|
rs1045817
|
0.11039
|
NM_022124.6(CDH23):c.8895C>T (p.Pro2965=)
|
rs11000009
|
0.10990
|
NM_022124.6(CDH23):c.9319+11G>A
|
rs11000013
|
0.10868
|
NM_017433.5(MYO3A):c.1743G>A (p.Glu581=)
|
rs41279908
|
0.10116
|
NM_014336.4(AIPL1):c.-106C>A
|
rs7211442
|
0.10081
|
NM_004744.5(LRAT):c.*1338T>G
|
rs12507608
|
0.09793
|
NM_001367624.2(ZNF469):c.1489G>A (p.Gly497Arg)
|
rs28723506
|
0.09509
|
NM_001367624.2(ZNF469):c.6470G>A (p.Arg2157Lys)
|
rs13334190
|
0.09442
|
NM_006118.4(HAX1):c.159T>C (p.Ser53=)
|
rs13796
|
0.09423
|
NM_004744.5(LRAT):c.342G>A (p.Glu114=)
|
rs17031981
|
0.09214
|
NM_001384474.1(LOXHD1):c.2175C>T (p.Asn725=)
|
rs2086005
|
0.09206
|
NM_182548.4(LHFPL5):c.*481T>C
|
rs372152238
|
0.09046
|
NM_138691.3(TMC1):c.1713C>T (p.Phe571=)
|
rs34532421
|
0.08866
|
NM_022124.6(CDH23):c.9873G>A (p.Thr3291=)
|
rs2290021
|
0.08719
|
NM_014363.6(SACS):c.696T>A (p.Asn232Lys)
|
rs2031640
|
0.08558
|
NM_014363.6(SACS):c.1656A>G (p.Leu552=)
|
rs1536365
|
0.08543
|
NM_139343.2(BIN1):c.-389T>A
|
rs56827597
|
0.08511
|
NM_017433.5(MYO3A):c.-132A>G
|
rs7073224
|
0.08457
|
NM_001367624.2(ZNF469):c.*46C>A
|
rs78600508
|
0.08121
|
NM_017433.5(MYO3A):c.624C>T (p.Asp208=)
|
rs35010955
|
0.08016
|
NM_022124.6(CDH23):c.*510G>A
|
rs1054635
|
0.07812
|
NM_173076.3(ABCA12):c.*539dup
|
rs139753893
|
0.07781
|
NM_001042472.3(ABHD12):c.*320_*321del
|
rs58058232
|
0.07558
|
NM_052989.3(IFT122):c.2060G>A (p.Arg687Gln)
|
rs61740161
|
0.07498
|
NM_020779.4(WDR35):c.53A>G (p.Gln18Arg)
|
rs1060742
|
0.07465
|
NM_015665.6(AAAS):c.414T>C (p.Asp138=)
|
rs11540353
|
0.07449
|
NM_194248.3(OTOF):c.945G>A (p.Lys315=)
|
rs41288779
|
0.07420
|
NM_000260.4(MYO7A):c.*504C>T
|
rs34765389
|
0.07374
|
NM_005522.5(HOXA1):c.*56C>A
|
rs56012816
|
0.07244
|
NM_147127.5(EVC2):c.-15G>A
|
rs76269601
|
0.07112
|
NM_001384474.1(LOXHD1):c.5399+13G>A
|
rs59128481
|
0.07068
|
NM_001384474.1(LOXHD1):c.4868A>G (p.Glu1623Gly)
|
rs12606417
|
0.06993
|
NM_173477.5(USH1G):c.*1656T>C
|
rs8067775
|
0.06899
|
NM_017433.5(MYO3A):c.660C>T (p.Ala220=)
|
rs34067308
|
0.06790
|
NM_001367624.2(ZNF469):c.7508C>A (p.Ala2503Glu)
|
rs141218390
|
0.06780
|
NM_001367624.2(ZNF469):c.*907G>A
|
rs1048192
|
0.06751
|
NM_001178007.1(BBS12):c.-391C>T
|
rs28642232
|
0.06726
|
NM_004813.4(PEX16):c.*587A>G
|
rs72902478
|
0.06684
|
NM_001367624.2(ZNF469):c.*921_*922insG
|
rs11382974
|
0.06632
|
NM_000751.3(CHRND):c.*424C>T
|
rs4973046
|
0.06579
|
NM_003619.4(PRSS12):c.*807G>A
|
rs17516164
|
0.06563
|
NM_001195248.2(APTX):c.484-12_484-11insG
|
rs377129152
|
0.06469
|
NM_001146079.2(CLDN14):c.-82+2024G>A
|
rs73902533
|
0.06423
|
NM_001172435.1(RAB3GAP1):c.*1941G>T
|
rs2305247
|
0.06411
|
NM_017433.5(MYO3A):c.2497G>T (p.Ala833Ser)
|
rs33947968
|
0.06209
|
NM_206933.4(USH2A):c.2137G>C (p.Gly713Arg)
|
rs696723
|
0.06184
|
NM_001367624.2(ZNF469):c.8330A>T (p.Asp2777Val)
|
rs3812954
|
0.06060
|
NM_001367624.2(ZNF469):c.3516T>C (p.Arg1172=)
|
rs111557381
|
0.06017
|
NM_001379180.1(ESRRB):c.1219C>T (p.Pro407Ser)
|
rs61742642
|
0.06008
|
NM_001384474.1(LOXHD1):c.1087G>A (p.Val363Ile)
|
rs10163657
|
0.05881
|
NM_002855.5(NECTIN1):c.*1391C>T
|
rs73573188
|
0.05825
|
NM_001256317.3(TMPRSS3):c.*409C>T
|
rs55954914
|
0.05821
|
NM_001814.6(CTSC):c.1357A>G (p.Ile453Val)
|
rs3888798
|
0.05696
|
NM_012188.5(FOXI1):c.*924C>T
|
rs45466695
|
0.05560
|
NM_000231.3(SGCG):c.*13C>T
|
rs9510701
|
0.05421
|
NM_001256317.3(TMPRSS3):c.-34G>A
|
rs73372256
|
0.05210
|
NM_147196.3(TMIE):c.*695G>A
|
rs77244938
|
0.05181
|
NM_006005.3(WFS1):c.1367G>A (p.Arg456His)
|
rs1801208
|
0.04977
|
NM_005529.7(HSPG2):c.10248C>T (p.Ser3416=)
|
rs41310390
|
0.04950
|
NM_000260.4(MYO7A):c.5156A>G (p.Tyr1719Cys)
|
rs77625410
|
0.04825
|
NM_002241.5(KCNJ10):c.811C>T (p.Arg271Cys)
|
rs1130183
|
0.04770
|
NM_003239.5(TGFB3):c.-614C>T
|
rs11466414
|
0.04715
|
NM_194248.3(OTOF):c.5655C>T (p.Arg1885=)
|
rs45442103
|
0.04640
|
NM_000070.3(CAPN3):c.2380+12del
|
rs28364538
|
0.04623
|
NM_147196.3(TMIE):c.*51C>T
|
rs56002857
|
0.04613
|
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala)
|
rs41281314
|
0.04612
|
NM_001367624.2(ZNF469):c.1285G>A (p.Ala429Thr)
|
rs113937803
|
0.04541
|
NM_002241.5(KCNJ10):c.*1032G>A
|
rs17375748
|
0.04538
|
NM_001146079.2(CLDN14):c.11C>T (p.Thr4Met)
|
rs113831133
|
0.04508
|
NM_002857.3(PEX19):c.-41C>T
|
rs113442137
|
0.04456
|
NM_004004.6(GJB2):c.*1197T>A
|
rs11841182
|
0.04451
|
NM_000782.5(CYP24A1):c.-400G>A
|
rs73913757
|
0.04441
|
NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly)
|
rs17154335
|
0.04399
|
NM_001127671.2(LIFR):c.*6640dup
|
rs57386567
|
0.04372
|
NM_001077365.2(POMT1):c.913G>A (p.Val305Ile)
|
rs4740164
|
0.04243
|
NM_004999.4(MYO6):c.1722C>T (p.Asp574=)
|
rs11756446
|
0.04242
|
NM_020247.5(COQ8A):c.255T>G (p.His85Gln)
|
rs2297411
|
0.04148
|
NM_001367624.2(ZNF469):c.1143C>A (p.Pro381=)
|
rs74032864
|
0.04134
|
NM_173477.5(USH1G):c.*571T>A
|
rs111611253
|
0.04134
|
NM_138694.4(PKHD1):c.*2331C>T
|
rs76762827
|
0.04028
|
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu)
|
rs45583140
|
0.04021
|
NM_018965.4(TREM2):c.632T>C (p.Leu211Pro)
|
rs2234256
|
0.04010
|
NM_194248.3(OTOF):c.2829C>T (p.Gly943=)
|
rs73920285
|
0.03958
|
NM_005422.4(TECTA):c.56A>G (p.Gln19Arg)
|
rs35507522
|
0.03926
|
NM_002230.4(JUP):c.425G>A (p.Arg142His)
|
rs41283425
|
0.03910
|
NM_194248.3(OTOF):c.4677G>A (p.Val1559=)
|
rs2272071
|
0.03875
|
NM_022124.6(CDH23):c.-258G>A
|
rs139742443
|
0.03851
|
NM_194248.3(OTOF):c.2703G>A (p.Ser901=)
|
rs4997760
|
0.03814
|
NM_005422.4(TECTA):c.624+11C>G
|
rs73599492
|
0.03810
|
NM_194248.3(OTOF):c.*372C>T
|
rs56025829
|
0.03793
|
NM_194248.3(OTOF):c.509+10A>G
|
rs76712142
|
0.03772
|
NM_173477.5(USH1G):c.*1990A>G
|
rs113905467
|
0.03761
|
NM_022124.6(CDH23):c.4310G>A (p.Arg1437Gln)
|
rs56181447
|
0.03706
|
NM_025074.7(FRAS1):c.*2931del
|
rs139811866
|
0.03677
|
NM_194248.3(OTOF):c.2402A>T (p.Glu801Val)
|
rs61739883
|
0.03615
|
NM_194248.3(OTOF):c.2401G>T (p.Glu801Ter)
|
rs75624587
|
0.03607
|
NM_018699.4(PRDM5):c.849G>A (p.Gln283=)
|
rs17051264
|
0.03566
|
NM_000260.4(MYO7A):c.*230A>G
|
rs112830819
|
0.03507
|
NM_031885.5(BBS2):c.1659+3A>G
|
rs6499838
|
0.03415
|
NM_002230.4(JUP):c.405C>T (p.Asp135=)
|
rs17850807
|
0.03356
|
NM_001256317.3(TMPRSS3):c.268G>A (p.Ala90Thr)
|
rs45598239
|
0.03352
|
NM_002230.4(JUP):c.*709G>C
|
rs56339743
|
0.03348
|
NM_194248.3(OTOF):c.2613C>T (p.Leu871=)
|
rs2272068
|
0.03343
|
NM_002230.4(JUP):c.*286C>T
|
rs73983656
|
0.03337
|
NM_006735.4(HOXA2):c.*108C>T
|
rs117630421
|
0.03326
|
NM_001146079.2(CLDN14):c.*51G>A
|
rs114551506
|
0.03325
|
NM_014363.6(SACS):c.909A>G (p.Ala303=)
|
rs41315020
|
0.03313
|
NM_194248.3(OTOF):c.*650C>A
|
rs57941637
|
0.03295
|
NM_000070.3(CAPN3):c.1029+3A>G
|
rs28364442
|
0.03285
|
NM_001042702.5(PJVK):c.-28C>G
|
rs74808009
|
0.03259
|
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys)
|
rs35520756
|
0.03206
|
NM_005422.4(TECTA):c.5733T>G (p.Val1911=)
|
rs516678
|
0.03205
|
NM_000302.4(PLOD1):c.*440G>C
|
rs11553681
|
0.03198
|
NM_003383.5(VLDLR):c.944-5T>C
|
rs35782329
|
0.03136
|
NM_015404.4(WHRN):c.1515G>A (p.Ala505=)
|
rs34252199
|
0.03118
|
NM_032575.3(GLIS2):c.*1203C>G
|
rs116981725
|
0.03086
|
NM_000260.4(MYO7A):c.6424G>A (p.Asp2142Asn)
|
rs1132036
|
0.03072
|
NM_139343.3(BIN1):c.1595C>T (p.Thr532Met)
|
rs112318500
|
0.03069
|
NM_194248.3(OTOF):c.2022C>T (p.Asp674=)
|
rs13004993
|
0.03023
|
NM_002855.5(NECTIN1):c.*3013G>A
|
rs75467939
|
0.03017
|
NM_004813.2(PEX16):c.-279G>A
|
rs2280330
|
0.02963
|
NM_015404.4(WHRN):c.-257C>G
|
rs73555447
|
0.02919
|
NM_001367624.2(ZNF469):c.8212G>A (p.Ala2738Thr)
|
rs3812955
|
0.02902
|
NM_198428.3(BBS9):c.1029A>G (p.Gly343=)
|
rs35195153
|
0.02890
|
NM_006005.3(WFS1):c.1805C>T (p.Ala602Val)
|
rs2230720
|
0.02889
|
NM_016239.4(MYO15A):c.7503G>A (p.Thr2501=)
|
rs16960961
|
0.02872
|
NM_000277.3(PAH):c.707-7A>T
|
rs62508624
|
0.02868
|
NM_014363.6(SACS):c.1839G>A (p.Gln613=)
|
rs35840595
|
0.02863
|
NM_198428.3(BBS9):c.1284C>T (p.Thr428=)
|
rs6964382
|
0.02858
|
NM_000277.2(PAH):c.-147C>T
|
rs62517177
|
0.02849
|
NM_015102.5(NPHP4):c.1631C>G (p.Ala544Gly)
|
rs12093500
|
0.02840
|
NM_006208.3(ENPP1):c.2320C>T (p.Arg774Cys)
|
rs28933977
|
0.02826
|
NM_000067.3(CA2):c.754A>G (p.Asn252Asp)
|
rs2228063
|
0.02817
|
NM_001080432.3(FTO):c.18T>C (p.Thr6=)
|
rs73609956
|
0.02787
|
NM_194248.3(OTOF):c.1926C>T (p.Asn642=)
|
rs72853741
|
0.02727
|
NM_000352.6(ABCC8):c.2277C>T (p.Thr759=)
|
rs1801261
|
0.02724
|
NM_001042472.3(ABHD12):c.*454G>A
|
rs41309917
|
0.02689
|
NM_001042702.5(PJVK):c.874G>A (p.Gly292Arg)
|
rs79399438
|
0.02648
|
NM_000751.3(CHRND):c.*1025A>G
|
rs115132742
|
0.02647
|
NM_004744.5(LRAT):c.*3618G>A
|
rs17032002
|
0.02639
|
NM_173477.5(USH1G):c.*553A>C
|
rs111899313
|
0.02634
|
NM_005199.5(CHRNG):c.445G>A (p.Ala149Thr)
|
rs2289080
|
0.02629
|
NM_018075.5(ANO10):c.*246A>G
|
rs73831273
|
0.02628
|
NM_000360.4(TH):c.1401C>T (p.Asp467=)
|
rs3842724
|
0.02616
|
NM_138691.3(TMC1):c.-540C>T
|
rs112220638
|
0.02586
|
NM_014363.6(SACS):c.*471C>T
|
rs11843731
|
0.02539
|
NM_000466.3(PEX1):c.3439-14_3439-13del
|
rs150005994
|
0.02536
|
NM_001367624.2(ZNF469):c.4434C>T (p.Ser1478=)
|
rs74032865
|
0.02534
|
NM_018972.4(GDAP1):c.*2408G>A
|
rs11996204
|
0.02523
|
NM_152618.3(BBS12):c.1381A>C (p.Asn461His)
|
rs10027479
|
0.02523
|
NM_000260.4(MYO7A):c.6240C>T (p.Ser2080=)
|
rs41298757
|
0.02519
|
NM_006208.3(ENPP1):c.-10C>T
|
rs750410843
|
0.02463
|
NM_000260.4(MYO7A):c.5326+13C>T
|
rs114157944
|
0.02453
|
NM_138694.4(PKHD1):c.1736C>T (p.Thr579Met)
|
rs45500692
|
0.02436
|
NM_001160372.4(TRAPPC9):c.3279+4C>T
|
rs79877357
|
0.02434
|
NM_005522.5(HOXA1):c.213C>T (p.His71=)
|
rs2074398
|
0.02428
|
NM_018699.4(PRDM5):c.660G>A (p.Gln220=)
|
rs74320998
|
0.02419
|
NM_022124.6(CDH23):c.6492C>T (p.Ile2164=)
|
rs41281332
|
0.02419
|
NM_014363.6(SACS):c.11032C>G (p.Pro3678Ala)
|
rs17078601
|
0.02418
|
NM_174936.4(PCSK9):c.*537del
|
rs72646535
|
0.02413
|
NM_000288.4(PEX7):c.-31G>A
|
rs115866467
|
0.02411
|
NM_000082.4(ERCC8):c.-23T>G
|
rs4647038
|
0.02401
|
NM_173477.5(USH1G):c.*1224A>C
|
rs111922548
|
0.02392
|
NM_000260.4(MYO7A):c.4589C>T (p.Ser1530Leu)
|
rs111033183
|
0.02384
|
NM_001384474.1(LOXHD1):c.2T>A (p.Met1Lys)
|
rs36024592
|
0.02382
|
NM_001098484.3(SLC4A4):c.*2028A>G
|
rs72854478
|
0.02380
|
NM_000260.4(MYO7A):c.3828G>A (p.Ser1276=)
|
rs78871677
|
0.02377
|
NM_002855.5(NECTIN1):c.*2103C>T
|
rs148431472
|
0.02370
|
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu)
|
rs13021201
|
0.02363
|
NM_194248.3(OTOF):c.-120G>T
|
rs114469860
|
0.02362
|
NM_032119.4(ADGRV1):c.10577T>C (p.Met3526Thr)
|
rs41311343
|
0.02332
|
NM_145861.4(EDARADD):c.*682G>A
|
rs61740486
|
0.02320
|
NM_001367624.2(ZNF469):c.11409G>C (p.Gly3803=)
|
rs150233193
|
0.02319
|
NM_000287.4(PEX6):c.*212C>T
|
rs1051218
|
0.02308
|
NM_052989.3(IFT122):c.109-15T>C
|
rs114298924
|
0.02307
|
NM_001146079.2(CLDN14):c.63G>A (p.Thr21=)
|
rs117560775
|
0.02306
|
NM_001367624.2(ZNF469):c.10975G>A (p.Gly3659Arg)
|
rs3812951
|
0.02265
|
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser)
|
rs1143650
|
0.02248
|
NM_002241.5(KCNJ10):c.*413G>A
|
rs79238495
|
0.02238
|
NM_017433.5(MYO3A):c.*246C>T
|
rs12261671
|
0.02237
|
NM_002241.5(KCNJ10):c.*1430C>T
|
rs114242410
|
0.02236
|
NM_022124.6(CDH23):c.1134+13A>G
|
rs7903502
|
0.02225
|
NM_000260.4(MYO7A):c.288G>A (p.Thr96=)
|
rs56023295
|
0.02179
|
NM_025077.4(TOE1):c.52+77G>A
|
rs3219466
|
0.02177
|
NM_001367624.2(ZNF469):c.4406A>G (p.Tyr1469Cys)
|
rs116072997
|
0.02164
|
NM_001256317.3(TMPRSS3):c.432A>G (p.Gln144=)
|
rs61731564
|
0.02161
|
NM_002906.4(RDX):c.-105C>T
|
rs78818014
|
0.02156
|
NM_001367624.2(ZNF469):c.2913C>A (p.Gly971=)
|
rs60462217
|
0.02154
|
NM_005422.4(TECTA):c.3012C>G (p.Thr1004=)
|
rs61291716
|
0.02153
|
NM_145861.4(EDARADD):c.308C>T (p.Ser103Phe)
|
rs114632254
|
0.02153
|
NM_004999.4(MYO6):c.3303C>T (p.Cys1101=)
|
rs9443199
|
0.02151
|
NM_003701.4(TNFSF11):c.107C>G (p.Pro36Arg)
|
rs138818878
|
0.02149
|
NM_001267550.2(TTN):c.93387C>T (p.Ser31129=)
|
rs35445420
|
0.02143
|
NM_001367624.2(ZNF469):c.3650C>T (p.Pro1217Leu)
|
rs115183769
|
0.02140
|
NM_005199.5(CHRNG):c.*77T>C
|
rs11690038
|
0.02138
|
NM_005422.4(TECTA):c.4751G>C (p.Ser1584Thr)
|
rs34963131
|
0.02137
|
NM_022124.6(CDH23):c.6249G>A (p.Pro2083=)
|
rs55964031
|
0.02131
|
NM_000260.4(MYO7A):c.4023C>T (p.Pro1341=)
|
rs73495790
|
0.02130
|
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=)
|
rs56034831
|
0.02114
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
NM_001351132.2(PEX5):c.*794_*795dup
|
rs112785895
|
0.02091
|
NM_000441.2(SLC26A4):c.2130C>T (p.Asp710=)
|
rs17154347
|
0.02079
|
NM_001143985.1(BANF1):c.-254G>T
|
rs78790365
|
0.02064
|
NM_006185.4(NUMA1):c.-109C>T
|
rs114912925
|
0.02058
|
NM_001267550.2(TTN):c.24880A>G (p.Arg8294Gly)
|
rs72648982
|
0.02056
|
NM_022124.6(CDH23):c.9978C>T (p.Asn3326=)
|
rs73277900
|
0.02056
|
NM_022124.6(CDH23):c.3664G>A (p.Ala1222Thr)
|
rs41281316
|
0.02047
|
NM_018136.5(ASPM):c.*60C>T
|
rs1537318
|
0.02044
|
NM_018136.5(ASPM):c.-110C>T
|
rs74981632
|
0.02032
|
NM_033064.5(ATCAY):c.137-11T>C
|
rs73919387
|
0.02031
|
NM_015665.6(AAAS):c.1557T>C (p.Thr519=)
|
rs112987708
|
0.02027
|
NM_001367624.2(ZNF469):c.6777G>A (p.Glu2259=)
|
rs76442115
|
0.02017
|
NM_001367624.2(ZNF469):c.6779A>G (p.Lys2260Arg)
|
rs75136873
|
0.02017
|
NM_001267550.2(TTN):c.86811A>G (p.Val28937=)
|
rs55972010
|
0.02012
|
NM_018075.5(ANO10):c.1477-14G>A
|
rs78884042
|
0.02011
|
NM_001267550.2(TTN):c.92901C>T (p.Ser30967=)
|
rs11694623
|
0.01999
|
NM_147196.3(TMIE):c.-37C>A
|
rs530579940
|
0.01988
|
NM_002855.5(NECTIN1):c.*2702T>C
|
rs59997117
|
0.01978
|
NM_145861.4(EDARADD):c.*678A>C
|
rs61740488
|
0.01970
|
NM_018699.4(PRDM5):c.1066T>A (p.Ser356Thr)
|
rs140634372
|
0.01952
|
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser)
|
rs72650006
|
0.01917
|
NM_000260.4(MYO7A):c.6640G>A (p.Gly2214Ser)
|
rs111033231
|
0.01911
|
NM_000260.4(MYO7A):c.4950C>T (p.Asn1650=)
|
rs80033599
|
0.01906
|
NM_016239.4(MYO15A):c.4533C>T (p.Ala1511=)
|
rs114328138
|
0.01906
|
NM_005982.4(SIX1):c.*767A>T
|
rs574976629
|
0.01905
|
NM_016239.4(MYO15A):c.3413A>G (p.Gln1138Arg)
|
rs76468019
|
0.01903
|
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala)
|
rs34154371
|
0.01899
|
NM_012188.5(FOXI1):c.*331G>C
|
rs72828668
|
0.01897
|
NM_000260.4(MYO7A):c.*363A>C
|
rs115872143
|
0.01894
|
NM_000302.4(PLOD1):c.540G>A (p.Gln180=)
|
rs35958757
|
0.01887
|
NM_000260.4(MYO7A):c.6052-11G>C
|
rs112564978
|
0.01883
|
NM_000260.4(MYO7A):c.2035G>A (p.Val679Ile)
|
rs35641839
|
0.01879
|
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=)
|
rs72648983
|
0.01872
|
NM_004937.3(CTNS):c.124G>A (p.Val42Ile)
|
rs35086888
|
0.01867
|
NM_013382.7(POMT2):c.*1337C>T
|
rs45561437
|
0.01861
|
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile)
|
rs35445653
|
0.01835
|
NM_018136.5(ASPM):c.2419+12G>A
|
rs77191836
|
0.01806
|
NM_001379180.1(ESRRB):c.204G>C (p.Leu68=)
|
rs61744548
|
0.01800
|
NM_001367624.2(ZNF469):c.6944C>G (p.Pro2315Arg)
|
rs77490207
|
0.01795
|
NM_000070.3(CAPN3):c.78G>A (p.Pro26=)
|
rs62642519
|
0.01774
|
NM_001367624.2(ZNF469):c.5697C>T (p.Ser1899=)
|
rs111986360
|
0.01774
|
NM_004999.4(MYO6):c.*1962A>G
|
rs80199115
|
0.01750
|
NM_000260.4(MYO7A):c.5619G>A (p.Arg1873=)
|
rs45450893
|
0.01749
|
NM_022124.6(CDH23):c.2958G>A (p.Leu986=)
|
rs74702249
|
0.01745
|
NM_004415.4(DSP):c.*276_*278del
|
rs144440643
|
0.01744
|
NM_138694.4(PKHD1):c.*3044A>T
|
rs41273712
|
0.01744
|
NM_138694.4(PKHD1):c.*1525G>A
|
rs6941633
|
0.01740
|
NM_022124.6(CDH23):c.7467C>T (p.Arg2489=)
|
rs111033289
|
0.01726
|
NM_194248.3(OTOF):c.3608A>G (p.Asn1203Ser)
|
rs61740776
|
0.01706
|
NM_002241.5(KCNJ10):c.*3250G>C
|
rs74855057
|
0.01694
|
NM_001384474.1(LOXHD1):c.2370C>T (p.Asp790=)
|
rs34723936
|
0.01692
|
NM_004999.4(MYO6):c.*3546A>G
|
rs73751758
|
0.01688
|
NM_001039958.2(MESP2):c.*326C>T
|
rs76163582
|
0.01683
|
NM_001267550.2(TTN):c.1492G>A (p.Val498Ile)
|
rs72647851
|
0.01678
|
NM_000271.5(NPC1):c.1503C>T (p.Asp501=)
|
rs116046557
|
0.01665
|
NM_138691.3(TMC1):c.1457T>C (p.Met486Thr)
|
rs17058153
|
0.01664
|
NM_002855.5(NECTIN1):c.*1610G>C
|
rs114004441
|
0.01660
|
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys)
|
rs72648987
|
0.01656
|
NM_002906.4(RDX):c.*1375G>A
|
rs79924211
|
0.01628
|
NM_002230.4(JUP):c.*669C>T
|
rs8074883
|
0.01622
|
NM_016239.4(MYO15A):c.9708G>A (p.Val3236=)
|
rs115393178
|
0.01622
|
NM_001077365.2(POMT1):c.1856C>T (p.Ala619Val)
|
rs12115566
|
0.01621
|
NM_001367624.2(ZNF469):c.3894G>C (p.Val1298=)
|
rs115790991
|
0.01614
|
NM_001267550.2(TTN):c.8467G>T (p.Val2823Phe)
|
rs33917087
|
0.01611
|
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp)
|
rs17472401
|
0.01606
|
NM_194248.3(OTOF):c.-67G>A
|
rs13422586
|
0.01603
|
NM_022124.6(CDH23):c.4210-7C>T
|
rs79271090
|
0.01600
|
NM_001127649.3(PEX26):c.-363G>C
|
rs138787474
|
0.01598
|
NM_000070.3(CAPN3):c.1355-6G>A
|
rs28364485
|
0.01593
|
NM_002230.4(JUP):c.867C>T (p.Thr289=)
|
rs2230407
|
0.01591
|
NM_004004.6(GJB2):c.-15C>T
|
rs72561725
|
0.01589
|
NM_002241.5(KCNJ10):c.*1498T>G
|
rs75316108
|
0.01585
|
NM_001366722.1(GRIP1):c.*655_*657dup
|
rs138816960
|
0.01583
|
NM_033056.4(PCDH15):c.5359C>T (p.Pro1787Ser)
|
rs61862390
|
0.01583
|
NM_000277.3(PAH):c.963C>T (p.Leu321=)
|
rs61747292
|
0.01582
|
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly)
|
rs17592
|
0.01574
|
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met)
|
rs80338952
|
0.01562
|
NM_194248.3(OTOF):c.3751T>G (p.Cys1251Gly)
|
rs41288773
|
0.01560
|
NM_194248.3(OTOF):c.2317C>T (p.Arg773Cys)
|
rs80356569
|
0.01549
|
NM_004937.3(CTNS):c.*1669C>T
|
rs117079843
|
0.01548
|
NM_194248.3(OTOF):c.4767C>T (p.Arg1589=)
|
rs80356578
|
0.01544
|
NM_178170.3(NEK8):c.*578A>C
|
rs185303602
|
0.01535
|
NM_001080476.3(GRXCR1):c.777C>T (p.Ser259=)
|
rs61733348
|
0.01525
|
NM_194248.3(OTOF):c.2464C>T (p.Arg822Trp)
|
rs80356570
|
0.01518
|
NM_001384140.1(PCDH15):c.546A>G (p.Gly182=)
|
rs34164469
|
0.01517
|
NM_006208.3(ENPP1):c.2002G>A (p.Glu668Lys)
|
rs115371819
|
0.01496
|
NM_153240.5(NPHP3):c.1986G>A (p.Arg662=)
|
rs77533254
|
0.01496
|
NM_006005.3(WFS1):c.2469C>T (p.Ile823=)
|
rs1801215
|
0.01494
|
NM_000441.2(SLC26A4):c.*1302T>G
|
rs112019874
|
0.01487
|
NM_005522.5(HOXA1):c.436C>A (p.His146Asn)
|
rs45571645
|
0.01487
|
NM_001139.3(ALOX12B):c.379C>T (p.Pro127Ser)
|
rs72842957
|
0.01485
|
NM_015404.4(WHRN):c.-295C>G
|
rs7861589
|
0.01478
|
NM_206933.4(USH2A):c.2109T>C (p.Asp703=)
|
rs45555435
|
0.01476
|
NM_003619.4(PRSS12):c.*208C>T
|
rs142775631
|
0.01464
|
NM_182548.4(LHFPL5):c.*447C>T
|
rs549494089
|
0.01456
|
NM_001267550.2(TTN):c.79783G>C (p.Asp26595His)
|
rs56307213
|
0.01455
|
NM_006208.3(ENPP1):c.1831C>G (p.Leu611Val)
|
rs79079368
|
0.01455
|
NM_000124.4(ERCC6):c.*1327G>A
|
rs117289374
|
0.01454
|
NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser)
|
rs17154353
|
0.01449
|
NM_000543.5(SMPD1):c.-45G>C
|
rs79282481
|
0.01446
|
NM_138694.4(PKHD1):c.*636C>A
|
rs41273718
|
0.01441
|
NM_024596.5(MCPH1):c.23-15A>G
|
rs146351889
|
0.01440
|
NM_002857.4(PEX19):c.*2057T>G
|
rs56089807
|
0.01433
|
NM_022124.6(CDH23):c.204C>T (p.Gly68=)
|
rs116624130
|
0.01418
|
NM_000260.4(MYO7A):c.286-5C>T
|
rs111033471
|
0.01415
|
NM_022124.6(CDH23):c.173A>G (p.Gln58Arg)
|
rs61732490
|
0.01415
|
NM_139343.3(BIN1):c.1362G>T (p.Gly454=)
|
rs61748155
|
0.01414
|
NM_018075.5(ANO10):c.74A>C (p.Gln25Pro)
|
rs112040665
|
0.01413
|
NM_014363.6(SACS):c.7149C>T (p.Arg2383=)
|
rs17078608
|
0.01409
|
NM_020247.5(COQ8A):c.-10+8T>C
|
rs145688619
|
0.01402
|
NM_017433.5(MYO3A):c.-189C>G
|
rs188597967
|
0.01399
|
NM_001044385.3(TMEM237):c.*3124A>T
|
rs79378497
|
0.01390
|
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr)
|
rs36043230
|
0.01390
|
NM_032119.4(ADGRV1):c.5304G>A (p.Glu1768=)
|
rs41303346
|
0.01390
|
NM_001367624.2(ZNF469):c.10708G>A (p.Ala3570Thr)
|
rs57052487
|
0.01385
|
NM_020779.4(WDR35):c.*2315G>C
|
rs72779355
|
0.01383
|
NM_018136.5(ASPM):c.2751C>T (p.Ala917=)
|
rs33987824
|
0.01382
|
NM_002857.4(PEX19):c.879T>C (p.Gly293=)
|
rs74125561
|
0.01375
|
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys)
|
rs56324595
|
0.01363
|
NM_001081.4(CUBN):c.9565A>G (p.Ile3189Val)
|
rs111265129
|
0.01345
|
NM_001367624.2(ZNF469):c.3125G>A (p.Arg1042Gln)
|
rs181077813
|
0.01341
|
NM_000207.3(INS):c.36G>A (p.Ala12=)
|
rs3842744
|
0.01335
|
NM_017433.5(MYO3A):c.4335A>G (p.Lys1445=)
|
rs34615182
|
0.01332
|
NM_003239.5(TGFB3):c.-543T>A
|
rs74448762
|
0.01331
|
NM_001351132.2(PEX5):c.-17+188T>C
|
rs186539500
|
0.01324
|
NM_000466.3(PEX1):c.1671-7T>C
|
rs74519968
|
0.01312
|
NM_000271.5(NPC1):c.1300C>T (p.Pro434Ser)
|
rs61731962
|
0.01305
|
NM_001267550.2(TTN):c.66614G>A (p.Arg22205Lys)
|
rs72646869
|
0.01305
|
NM_001367624.2(ZNF469):c.2034C>T (p.Ala678=)
|
rs58401704
|
0.01305
|
NM_000352.6(ABCC8):c.3329+6C>T
|
rs113873225
|
0.01304
|
NM_022098.4(XPNPEP3):c.*2762T>C
|
rs181614337
|
0.01298
|
NM_002241.5(KCNJ10):c.*93C>T
|
rs114052043
|
0.01296
|
NM_024753.5(TTC21B):c.665A>T (p.Gln222Leu)
|
rs80026831
|
0.01296
|
NM_024753.5(TTC21B):c.838A>G (p.Met280Val)
|
rs112868646
|
0.01295
|
NM_004999.4(MYO6):c.*1469G>T
|
rs74367845
|
0.01285
|
NM_001267550.2(TTN):c.100094G>A (p.Arg33365Gln)
|
rs55742743
|
0.01280
|
NM_000441.2(SLC26A4):c.*350C>T
|
rs17154362
|
0.01276
|
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln)
|
rs68080670
|
0.01276
|
NM_013382.7(POMT2):c.-56G>A
|
rs567281401
|
0.01276
|
NM_001256317.3(TMPRSS3):c.*189T>C
|
rs114813487
|
0.01262
|
NM_138694.4(PKHD1):c.1234-5C>T
|
rs116124750
|
0.01262
|
NM_001267550.2(TTN):c.4630A>G (p.Ile1544Val)
|
rs72647877
|
0.01259
|
NM_002485.5(NBN):c.*2129G>T
|
rs117807915
|
0.01258
|
NM_198428.3(BBS9):c.1849A>C (p.Ile617Leu)
|
rs34209904
|
0.01256
|
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser)
|
rs80325569
|
0.01244
|
NM_004004.6(GJB2):c.-216T>G
|
rs574815423
|
0.01243
|
NM_001267550.2(TTN):c.32648G>A (p.Arg10883Lys)
|
rs116676813
|
0.01242
|
NM_194248.3(OTOF):c.4629-9C>T
|
rs72853726
|
0.01237
|
NM_000360.4(TH):c.1278G>A (p.Thr426=)
|
rs36097848
|
0.01234
|
NM_001278293.3(ARL6):c.-240C>T
|
rs116162146
|
0.01233
|
NM_138694.4(PKHD1):c.*1637G>A
|
rs77227361
|
0.01221
|
NM_017433.5(MYO3A):c.533C>T (p.Thr178Ile)
|
rs33968748
|
0.01220
|
NM_138694.4(PKHD1):c.*2082A>G
|
rs79635571
|
0.01218
|
NM_001367624.2(ZNF469):c.8121G>A (p.Ala2707=)
|
rs116696830
|
0.01217
|
NM_001267550.2(TTN):c.70696G>C (p.Gly23566Arg)
|
rs55801134
|
0.01212
|
NM_000260.4(MYO7A):c.6519C>T (p.Asn2173=)
|
rs111033230
|
0.01207
|
NM_020779.4(WDR35):c.1601G>A (p.Arg534Gln)
|
rs113345685
|
0.01206
|
NM_170784.3(MKKS):c.1462G>A (p.Ala488Thr)
|
rs61734546
|
0.01201
|
NM_004999.4(MYO6):c.1176A>G (p.Thr392=)
|
rs2273857
|
0.01200
|
NM_000070.3(CAPN3):c.62G>A (p.Gly21Glu)
|
rs28364364
|
0.01193
|
NM_014042.3(ANAPC15):c.*79A>G
|
rs113912971
|
0.01193
|
NM_001267550.2(TTN):c.98595A>G (p.Glu32865=)
|
rs55977045
|
0.01192
|
NM_001098484.3(SLC4A4):c.2176C>T (p.Leu726=)
|
rs16846517
|
0.01187
|
NM_001267550.2(TTN):c.32254G>A (p.Val10752Ile)
|
rs72650028
|
0.01184
|
NM_001267550.2(TTN):c.69585C>T (p.Ser23195=)
|
rs67041405
|
0.01183
|
NM_000352.6(ABCC8):c.4728C>T (p.Phe1576=)
|
rs73419228
|
0.01181
|
NM_020247.5(COQ8A):c.*133G>A
|
rs149820067
|
0.01173
|
NM_022124.6(CDH23):c.1423G>A (p.Val475Met)
|
rs62622410
|
0.01173
|
NM_001267550.2(TTN):c.20602G>A (p.Gly6868Arg)
|
rs17355460
|
0.01172
|
NM_000271.4(NPC1):c.-179C>T
|
rs145693774
|
0.01171
|
NM_001267550.2(TTN):c.1398+8C>T
|
rs72647848
|
0.01171
|
NM_138694.4(PKHD1):c.11878G>A (p.Val3960Ile)
|
rs34548196
|
0.01161
|
NM_017875.4(SLC25A38):c.-292G>A
|
rs142441701
|
0.01159
|
NM_000070.3(CAPN3):c.2433T>C (p.Val811=)
|
rs28364543
|
0.01154
|
NM_001367624.2(ZNF469):c.2574G>C (p.Pro858=)
|
rs74384633
|
0.01153
|
NM_001267550.2(TTN):c.95555T>C (p.Leu31852Pro)
|
rs62621206
|
0.01151
|
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr)
|
rs55880440
|
0.01150
|
NM_001367624.2(ZNF469):c.6032G>A (p.Gly2011Asp)
|
rs79155191
|
0.01148
|
NM_000070.3(CAPN3):c.1116-5A>G
|
rs28364467
|
0.01144
|
NM_001267550.2(TTN):c.47400G>A (p.Lys15800=)
|
rs114145817
|
0.01143
|
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr)
|
rs72646809
|
0.01131
|
NM_032119.4(ADGRV1):c.8407G>A (p.Ala2803Thr)
|
rs111033530
|
0.01127
|
NM_018965.4(TREM2):c.*73G>A
|
rs2234258
|
0.01125
|
NM_012188.5(FOXI1):c.*556A>G
|
rs77823283
|
0.01117
|
NM_001267550.2(TTN):c.16095C>T (p.Asn5365=)
|
rs72648935
|
0.01116
|
NM_001367624.2(ZNF469):c.2407G>T (p.Ala803Ser)
|
rs113484918
|
0.01110
|
NM_153676.4(USH1C):c.819+10G>C
|
rs41282936
|
0.01105
|
NM_015102.5(NPHP4):c.2876G>A (p.Arg959Gln)
|
rs12084067
|
0.01099
|
NM_001127649.3(PEX26):c.457C>G (p.Leu153Val)
|
rs12484657
|
0.01096
|
NM_001267550.2(TTN):c.89317A>T (p.Ile29773Leu)
|
rs77853750
|
0.01096
|
NM_001379180.1(ESRRB):c.1300G>A (p.Val434Ile)
|
rs146351534
|
0.01096
|
NM_000211.5(ITGB2):c.1002C>T (p.Thr334=)
|
rs61737081
|
0.01093
|
NM_001267550.2(TTN):c.105529G>A (p.Val35177Met)
|
rs55865284
|
0.01093
|
NM_001351132.2(PEX5):c.1718+13A>G
|
rs116873137
|
0.01093
|
NM_006208.3(ENPP1):c.*2076C>T
|
rs117531639
|
0.01090
|
NM_001267550.2(TTN):c.105787G>T (p.Ala35263Ser)
|
rs67254537
|
0.01080
|
NM_001267550.2(TTN):c.105788C>T (p.Ala35263Val)
|
rs66961115
|
0.01079
|
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp)
|
rs36021856
|
0.01079
|
NM_000260.3(MYO7A):c.*560C>T
|
rs35776264
|
0.01078
|
NM_012233.3(RAB3GAP1):c.1325A>G (p.Tyr442Cys)
|
rs114901298
|
0.01077
|
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=)
|
rs56375087
|
0.01075
|
NM_000260.4(MYO7A):c.2754C>T (p.Ala918=)
|
rs78072361
|
0.01074
|
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile)
|
rs55842557
|
0.01073
|
NM_005422.4(TECTA):c.5383+3G>A
|
rs73583199
|
0.01071
|
NM_004565.3(PEX14):c.768G>A (p.Val256=)
|
rs36083022
|
0.01070
|
NM_006005.3(WFS1):c.1726G>A (p.Gly576Ser)
|
rs1805069
|
0.01068
|
NM_004525.3(LRP2):c.13134C>G (p.Pro4378=)
|
rs73970129
|
0.01063
|
NM_017739.4(POMGNT1):c.1257G>A (p.Leu419=)
|
rs41292143
|
0.01062
|
NM_000019.3(ACAT1):c.*258G>A
|
rs79764488
|
0.01061
|
NM_020779.4(WDR35):c.*1575_*1576dup
|
rs202074829
|
0.01057
|
NM_004525.2(LRP2):c.-147G>C
|
rs114880772
|
0.01047
|
NM_138694.4(PKHD1):c.8606C>A (p.Thr2869Lys)
|
rs142522748
|
0.01047
|
NM_001267550.2(TTN):c.4347A>G (p.Ser1449=)
|
rs719202
|
0.01042
|
NM_016239.4(MYO15A):c.1791G>A (p.Ala597=)
|
rs114552047
|
0.01041
|
NM_001077365.2(POMT1):c.1479C>T (p.Tyr493=)
|
rs62636653
|
0.01037
|
NM_022124.6(CDH23):c.4858G>A (p.Val1620Met)
|
rs41281330
|
0.01037
|
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr)
|
rs145643112
|
0.01037
|
NM_052989.3(IFT122):c.1943A>C (p.Glu648Ala)
|
rs144397126
|
0.01035
|
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=)
|
rs73036373
|
0.01031
|
NM_025074.7(FRAS1):c.*2672A>G
|
rs144020017
|
0.01027
|
NM_004415.4(DSP):c.3510G>A (p.Glu1170=)
|
rs28763964
|
0.01023
|
NM_001386140.1(MTTP):c.2636A>G (p.Lys879Arg)
|
rs114049933
|
0.01021
|
NM_001267550.2(TTN):c.63023C>T (p.Thr21008Ile)
|
rs72646850
|
0.01020
|
NM_001077365.2(POMT1):c.1125C>T (p.His375=)
|
rs35242383
|
0.01019
|
NM_001267550.2(TTN):c.39082G>A (p.Val13028Met)
|
rs73038314
|
0.01013
|
NM_001267550.2(TTN):c.19004A>G (p.Asp6335Gly)
|
rs72648951
|
0.01012
|
NM_000124.4(ERCC6):c.1337G>A (p.Gly446Asp)
|
rs4253047
|
0.01008
|
NM_207361.6(FREM2):c.*3731A>C
|
rs41286133
|
0.01007
|
NM_000334.4(SCN4A):c.2717G>C (p.Ser906Thr)
|
rs41280102
|
0.01003
|
NM_032119.4(ADGRV1):c.3559A>G (p.Ile1187Val)
|
rs16868935
|
0.01001
|
NM_017791.3(FLVCR2):c.*187T>C
|
rs75002047
|
0.01000
|
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe)
|
rs140118273
|
0.00997
|
NM_001098484.3(SLC4A4):c.*3106G>A
|
rs114563047
|
0.00995
|
NM_001367624.2(ZNF469):c.4926G>A (p.Ser1642=)
|
rs117310292
|
0.00992
|
NM_032119.4(ADGRV1):c.11031C>T (p.Asn3677=)
|
rs75480336
|
0.00991
|
NM_005522.5(HOXA1):c.*470T>A
|
rs73683592
|
0.00984
|
NM_024570.4(RNASEH2B):c.156G>A (p.Leu52=)
|
rs35416748
|
0.00984
|
NM_001077365.2(POMT1):c.2137C>T (p.Arg713Cys)
|
rs147266709
|
0.00982
|
NM_001077365.2(POMT1):c.78G>A (p.Gly26=)
|
rs149554732
|
0.00980
|
NM_001267550.2(TTN):c.10100G>A (p.Arg3367Gln)
|
rs34819099
|
0.00971
|
NM_001267550.2(TTN):c.82575G>A (p.Thr27525=)
|
rs11896779
|
0.00966
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_000260.4(MYO7A):c.*442T>C
|
rs115238711
|
0.00963
|
NM_001267550.2(TTN):c.17741-9A>G
|
rs72648944
|
0.00958
|
NM_032119.4(ADGRV1):c.1839+7G>A
|
rs142011700
|
0.00957
|
NM_001083961.2(WDR62):c.2975C>T (p.Ser992Leu)
|
rs74518295
|
0.00953
|
NM_018136.5(ASPM):c.7917A>G (p.Lys2639=)
|
rs112647911
|
0.00953
|
NM_001367624.2(ZNF469):c.9004A>C (p.Met3002Leu)
|
rs141776185
|
0.00951
|
NM_001023570.4(IQCB1):c.-178C>T
|
rs191557781
|
0.00949
|
NM_018136.5(ASPM):c.7353G>A (p.Leu2451=)
|
rs111487086
|
0.00949
|
NM_147127.5(EVC2):c.-19T>C
|
rs188508515
|
0.00949
|
NM_022124.6(CDH23):c.7630T>C (p.Leu2544=)
|
rs114819374
|
0.00947
|
NM_001098484.3(SLC4A4):c.*272T>C
|
rs142360815
|
0.00942
|
NM_001367624.2(ZNF469):c.1697C>T (p.Ala566Val)
|
rs181785233
|
0.00939
|
NR_148338.1(LOC107986845):n.884G>A
|
rs183121204
|
0.00938
|
NM_001367624.2(ZNF469):c.2814G>A (p.Ala938=)
|
rs140480823
|
0.00931
|
NM_000553.6(WRN):c.2241T>G (p.Leu747=)
|
rs2230011
|
0.00921
|
NM_138694.4(PKHD1):c.888A>T (p.Pro296=)
|
rs76012218
|
0.00916
|
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=)
|
rs62178963
|
0.00915
|
NM_001267550.2(TTN):c.104377A>C (p.Met34793Leu)
|
rs72629787
|
0.00909
|
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn)
|
rs115311625
|
0.00908
|
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val)
|
rs78652302
|
0.00908
|
NM_015910.7(WDPCP):c.2063A>G (p.Asn688Ser)
|
rs61734468
|
0.00905
|
NM_004565.3(PEX14):c.213C>G (p.Gly71=)
|
rs41274482
|
0.00899
|
NM_004560.4(ROR2):c.-91G>A
|
rs141262722
|
0.00898
|
NM_025114.4(CEP290):c.-33G>T
|
rs139415563
|
0.00894
|
NM_001367624.2(ZNF469):c.4884G>A (p.Thr1628=)
|
rs141666432
|
0.00893
|
NM_000329.3(RPE65):c.*680G>A
|
rs56113622
|
0.00888
|
NM_000070.3(CAPN3):c.73C>T (p.His25Tyr)
|
rs61735534
|
0.00885
|
NM_000329.3(RPE65):c.*341T>C
|
rs74084042
|
0.00885
|
NM_001386140.1(MTTP):c.*515G>A
|
rs116005476
|
0.00885
|
NM_001367624.2(ZNF469):c.2370G>A (p.Leu790=)
|
rs147859144
|
0.00882
|
NM_000207.3(INS):c.-9C>T
|
rs5505
|
0.00878
|
NM_000211.5(ITGB2):c.329-6C>T
|
rs9983887
|
0.00876
|
NM_000441.2(SLC26A4):c.*614C>T
|
rs77315223
|
0.00874
|
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile)
|
rs62070884
|
0.00873
|
NM_033064.5(ATCAY):c.*2692G>A
|
rs117794052
|
0.00870
|
NM_000441.2(SLC26A4):c.*11G>A
|
rs113496951
|
0.00867
|
NM_032575.3(GLIS2):c.70C>A (p.Arg24=)
|
rs34543395
|
0.00866
|
NM_207361.6(FREM2):c.*1539C>T
|
rs41286131
|
0.00866
|
NM_207361.6(FREM2):c.-182G>A
|
rs142232936
|
0.00862
|
NM_052989.3(IFT122):c.2415C>T (p.Arg805=)
|
rs61744218
|
0.00860
|
NM_020247.5(COQ8A):c.*790A>G
|
rs12565212
|
0.00855
|
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly)
|
rs139974543
|
0.00854
|
NM_018389.5(SLC35C1):c.*1208G>A
|
rs115509471
|
0.00851
|
NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp)
|
rs5030672
|
0.00847
|
NM_002241.5(KCNJ10):c.*1368C>T
|
rs73021683
|
0.00847
|
NM_001384140.1(PCDH15):c.3532G>A (p.Val1178Ile)
|
rs147835286
|
0.00845
|
NM_032119.4(ADGRV1):c.9650C>T (p.Ala3217Val)
|
rs114137750
|
0.00844
|
NM_015665.6(AAAS):c.1515T>C (p.Pro505=)
|
rs35282133
|
0.00843
|
NM_006846.4(SPINK5):c.2241-6C>T
|
rs190365795
|
0.00842
|
NM_182961.4(SYNE1):c.10022T>C (p.Val3341Ala)
|
rs138693624
|
0.00841
|
NM_001077365.2(POMT1):c.-6T>G
|
rs62620173
|
0.00840
|
NM_015665.6(AAAS):c.1597G>A (p.Gly533Arg)
|
rs34451260
|
0.00840
|
NM_001256317.3(TMPRSS3):c.*191T>C
|
rs116789917
|
0.00839
|
NM_001384140.1(PCDH15):c.475-3C>T
|
rs41304641
|
0.00837
|
NM_001267550.2(TTN):c.69740C>T (p.Pro23247Leu)
|
rs115658240
|
0.00835
|
NM_001267550.2(TTN):c.33340+10T>C
|
rs72650039
|
0.00830
|
NM_001267550.2(TTN):c.79318C>T (p.Arg26440Cys)
|
rs55861600
|
0.00828
|
NM_000163.5(GHR):c.*2169C>T
|
rs28943876
|
0.00826
|
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=)
|
rs72646893
|
0.00826
|
NM_001267550.2(TTN):c.79689C>A (p.Val26563=)
|
rs10185798
|
0.00826
|
NM_013382.7(POMT2):c.*2091G>T
|
rs139493728
|
0.00821
|
NM_001077365.2(POMT1):c.1826-6C>A
|
rs140258585
|
0.00816
|
NM_001077365.2(POMT1):c.1826-7C>A
|
rs148180760
|
0.00816
|
NM_013382.7(POMT2):c.*1756C>T
|
rs148688355
|
0.00815
|
NM_000124.4(ERCC6):c.3922G>C (p.Val1308Leu)
|
rs2229761
|
0.00814
|
NM_001184.4(ATR):c.268C>T (p.His90Tyr)
|
rs28897763
|
0.00813
|
NM_006005.3(WFS1):c.1495C>T (p.Leu499Phe)
|
rs114152068
|
0.00810
|
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=)
|
rs55806007
|
0.00808
|
NM_018136.5(ASPM):c.5185C>T (p.Arg1729Trp)
|
rs41299623
|
0.00808
|
NM_144596.4(TTC8):c.625-5C>T
|
rs137853922
|
0.00807
|
NM_014425.5(INVS):c.-155C>T
|
rs62577237
|
0.00805
|
NM_194248.3(OTOF):c.2025G>A (p.Glu675=)
|
rs61746988
|
0.00801
|
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=)
|
rs56310931
|
0.00799
|
NM_170707.4(LMNA):c.51C>T (p.Ser17=)
|
rs11549668
|
0.00797
|
NM_016239.4(MYO15A):c.6796G>A (p.Val2266Met)
|
rs114274755
|
0.00791
|
NM_004813.4(PEX16):c.*65T>C
|
rs16938413
|
0.00789
|
NM_153676.4(USH1C):c.2499C>T (p.Ile833=)
|
rs34581703
|
0.00789
|
NM_002473.6(MYH9):c.*1329C>T
|
rs146582828
|
0.00786
|
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His)
|
rs111033470
|
0.00784
|
NM_004999.4(MYO6):c.*3509G>A
|
rs78129547
|
0.00783
|
NM_000441.2(SLC26A4):c.1488C>T (p.Leu496=)
|
rs77407094
|
0.00782
|
NM_002473.6(MYH9):c.*686C>T
|
rs55994070
|
0.00779
|
NM_001267550.2(TTN):c.6727G>T (p.Asp2243Tyr)
|
rs138787974
|
0.00778
|
NM_002855.5(NECTIN1):c.*2481A>G
|
rs3751021
|
0.00777
|
NM_014363.6(SACS):c.8345C>T (p.Ala2782Val)
|
rs61742500
|
0.00776
|
NM_014363.6(SACS):c.8344G>A (p.Ala2782Thr)
|
rs61742502
|
0.00775
|
NM_001267550.2(TTN):c.101766G>C (p.Gln33922His)
|
rs55886356
|
0.00774
|
NM_001267550.2(TTN):c.49443A>C (p.Pro16481=)
|
rs74321406
|
0.00774
|
NM_138694.4(PKHD1):c.7110-7T>A
|
rs113034899
|
0.00770
|
NM_138694.4(PKHD1):c.4035C>A (p.Gly1345=)
|
rs140791735
|
0.00769
|
NM_032119.4(ADGRV1):c.7179C>T (p.Asp2393=)
|
rs111033429
|
0.00767
|
NM_001367624.2(ZNF469):c.4363C>G (p.Leu1455Val)
|
rs116532825
|
0.00765
|
NM_016239.4(MYO15A):c.2028C>A (p.Pro676=)
|
rs577023485
|
0.00762
|
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly)
|
rs113941736
|
0.00760
|
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His)
|
rs59887778
|
0.00758
|
NM_001267550.2(TTN):c.42219C>T (p.Phe14073=)
|
rs150612172
|
0.00757
|
NM_018136.5(ASPM):c.9773A>G (p.His3258Arg)
|
rs7528827
|
0.00754
|
NM_001367624.2(ZNF469):c.5087C>T (p.Pro1696Leu)
|
rs115487796
|
0.00752
|
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn)
|
rs61750442
|
0.00751
|
NM_004999.4(MYO6):c.*2910T>A
|
rs140495245
|
0.00749
|
NM_024596.5(MCPH1):c.2453-13G>A
|
rs111713406
|
0.00748
|
NM_000260.4(MYO7A):c.3246G>A (p.Thr1082=)
|
rs35963362
|
0.00745
|
NM_001083961.2(WDR62):c.*5G>A
|
rs61740165
|
0.00745
|
NM_153240.5(NPHP3):c.3550G>A (p.Ala1184Thr)
|
rs34391943
|
0.00744
|
NM_000260.4(MYO7A):c.5215C>A (p.Arg1739=)
|
rs111033477
|
0.00740
|
NM_004999.4(MYO6):c.1120T>C (p.Tyr374His)
|
rs61732664
|
0.00738
|
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn)
|
rs142863601
|
0.00738
|
NM_025216.2(WNT10A):c.-400T>G
|
rs556182426
|
0.00738
|
NM_001098484.3(SLC4A4):c.*2428T>C
|
rs114778480
|
0.00736
|
NM_021830.5(TWNK):c.-241C>T
|
rs113159821
|
0.00734
|
NM_022124.6(CDH23):c.3364T>G (p.Leu1122Val)
|
rs77821631
|
0.00732
|
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg)
|
rs72648927
|
0.00729
|
NM_000329.3(RPE65):c.399T>C (p.Leu133=)
|
rs59257923
|
0.00728
|
NM_173477.5(USH1G):c.*1053G>A
|
rs113583471
|
0.00727
|
NM_000082.3(ERCC8):c.-133C>G
|
rs4647037
|
0.00723
|
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg)
|
rs139014478
|
0.00721
|
NM_000260.4(MYO7A):c.133-14C>T
|
rs116228809
|
0.00719
|
NM_018136.5(ASPM):c.5629G>A (p.Ala1877Thr)
|
rs112230218
|
0.00719
|
NM_000260.4(MYO7A):c.*392A>G
|
rs144527614
|
0.00712
|
NM_003619.4(PRSS12):c.1773C>T (p.His591=)
|
rs34131974
|
0.00712
|
NM_032575.3(GLIS2):c.*874C>G
|
rs147214646
|
0.00712
|
NM_001367624.2(ZNF469):c.7805T>C (p.Leu2602Pro)
|
rs150488251
|
0.00706
|
NM_004415.4(DSP):c.2673T>C (p.Tyr891=)
|
rs146407262
|
0.00703
|
NM_001267550.2(TTN):c.24579A>G (p.Thr8193=)
|
rs72648979
|
0.00702
|
NM_014053.4(FLVCR1):c.*2860C>A
|
rs138737189
|
0.00702
|
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=)
|
rs146902870
|
0.00702
|
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu)
|
rs17452588
|
0.00701
|
NM_001267550.2(TTN):c.24160A>T (p.Ile8054Leu)
|
rs72648976
|
0.00701
|
NM_001267550.2(TTN):c.24345C>T (p.Ser8115=)
|
rs72648977
|
0.00701
|
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn)
|
rs34884895
|
0.00701
|
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys)
|
rs61731387
|
0.00699
|
NM_005529.7(HSPG2):c.3292G>A (p.Ala1098Thr)
|
rs2501264
|
0.00699
|
NM_021628.3(ALOXE3):c.*87C>T
|
rs75448808
|
0.00699
|
NM_022124.6(CDH23):c.3249G>A (p.Thr1083=)
|
rs79805606
|
0.00698
|
NM_001267550.2(TTN):c.39183T>A (p.Pro13061=)
|
rs12474306
|
0.00697
|
NM_001267550.2(TTN):c.56529G>A (p.Thr18843=)
|
rs72646827
|
0.00697
|
NM_001267550.2(TTN):c.32722+9G>A
|
rs148231130
|
0.00695
|
NM_001256317.3(TMPRSS3):c.*246G>A
|
rs57692239
|
0.00691
|
NM_004525.3(LRP2):c.*407T>A
|
rs145253443
|
0.00691
|
NM_018136.5(ASPM):c.1987G>T (p.Ala663Ser)
|
rs113611857
|
0.00689
|
NM_018718.3(CEP41):c.*1512C>T
|
rs73721889
|
0.00689
|
NM_001127649.3(PEX26):c.*2162G>A
|
rs45489191
|
0.00688
|
NM_014363.6(SACS):c.4188C>T (p.His1396=)
|
rs61754477
|
0.00688
|
NM_014363.6(SACS):c.6267G>A (p.Ser2089=)
|
rs9550956
|
0.00688
|
NM_004937.3(CTNS):c.*2012C>T
|
rs138871128
|
0.00686
|
NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe)
|
rs150895887
|
0.00683
|
NM_001267550.2(TTN):c.45083-10A>G
|
rs72677222
|
0.00683
|
NM_000162.5(GCK):c.645C>T (p.Tyr215=)
|
rs144723656
|
0.00682
|
NM_001267550.2(TTN):c.99111T>C (p.Tyr33037=)
|
rs77257306
|
0.00682
|
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg)
|
rs115045643
|
0.00681
|
NM_002855.5(NECTIN1):c.*3173G>A
|
rs76459888
|
0.00680
|
NM_024570.4(RNASEH2B):c.-112C>T
|
rs184573722
|
0.00678
|
NM_022124.6(CDH23):c.7762G>C (p.Glu2588Gln)
|
rs41281338
|
0.00677
|
NM_182961.4(SYNE1):c.8164G>A (p.Val2722Ile)
|
rs151091241
|
0.00676
|
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met)
|
rs72648937
|
0.00675
|
NM_130384.3(ATRIP):c.*722C>T
|
rs2279076
|
0.00673
|
NM_006005.3(WFS1):c.2335G>A (p.Val779Met)
|
rs141328044
|
0.00672
|
NM_001267550.2(TTN):c.81057T>C (p.Thr27019=)
|
rs114908705
|
0.00671
|
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met)
|
rs2230896
|
0.00668
|
NM_000543.5(SMPD1):c.719G>A (p.Arg240Gln)
|
rs2634197
|
0.00668
|
NM_001267550.2(TTN):c.42156C>T (p.Ile14052=)
|
rs76815324
|
0.00667
|
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=)
|
rs72648258
|
0.00667
|
NM_018136.5(ASPM):c.3742-10T>G
|
rs41299587
|
0.00665
|
NM_004937.3(CTNS):c.108C>T (p.Asn36=)
|
rs117404824
|
0.00664
|
NM_022124.6(CDH23):c.2337G>A (p.Lys779=)
|
rs111033461
|
0.00664
|
NM_002485.5(NBN):c.*1222A>C
|
rs13312985
|
0.00662
|
NM_018136.5(ASPM):c.3741+3A>G
|
rs138558822
|
0.00656
|
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=)
|
rs34562585
|
0.00654
|
NM_005982.4(SIX1):c.-137C>T
|
rs139621918
|
0.00654
|
NM_153676.4(USH1C):c.*405C>G
|
rs11827649
|
0.00654
|
NM_004153.4(ORC1):c.806C>T (p.Ser269Leu)
|
rs61753390
|
0.00653
|
NM_001194998.2(CEP152):c.4857T>C (p.Asp1619=)
|
rs74986073
|
0.00651
|
NM_002617.4(PEX10):c.318G>A (p.Leu106=)
|
rs146452560
|
0.00649
|
NM_000260.4(MYO7A):c.2236G>A (p.Asp746Asn)
|
rs36090425
|
0.00646
|
NM_004415.4(DSP):c.*9T>A
|
rs11558732
|
0.00645
|
NM_032119.4(ADGRV1):c.10769+9A>G
|
rs116184119
|
0.00645
|
NM_022124.6(CDH23):c.8980-14C>A
|
rs45522532
|
0.00642
|
NM_001267550.2(TTN):c.20147T>A (p.Met6716Lys)
|
rs28626194
|
0.00641
|
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=)
|
rs115744476
|
0.00640
|
NM_170707.4(LMNA):c.612G>A (p.Leu204=)
|
rs12117552
|
0.00637
|
NM_001267550.2(TTN):c.19383T>C (p.Asn6461=)
|
rs76771282
|
0.00636
|
NM_001267550.2(TTN):c.17888A>G (p.Glu5963Gly)
|
rs146983095
|
0.00634
|
NM_001367624.2(ZNF469):c.1471G>A (p.Ala491Thr)
|
rs117555121
|
0.00632
|
NM_033056.4(PCDH15):c.4850A>G (p.Asn1617Ser)
|
rs111033362
|
0.00631
|
NM_194248.3(OTOF):c.145C>T (p.Arg49Trp)
|
rs61746568
|
0.00630
|
NM_000543.5(SMPD1):c.1625G>A (p.Arg542Gln)
|
rs113467489
|
0.00629
|
NM_000553.6(WRN):c.1953C>T (p.Gly651=)
|
rs11574263
|
0.00627
|
NM_005529.7(HSPG2):c.3056C>T (p.Pro1019Leu)
|
rs62642528
|
0.00626
|
NM_001267550.2(TTN):c.91573A>G (p.Ile30525Val)
|
rs72648244
|
0.00625
|
NM_002230.4(JUP):c.1224C>T (p.Leu408=)
|
rs2230408
|
0.00620
|
NM_018319.4(TDP1):c.302C>T (p.Pro101Leu)
|
rs35455108
|
0.00620
|
NM_003383.5(VLDLR):c.*534T>C
|
rs10967349
|
0.00619
|
NM_000260.4(MYO7A):c.3042G>T (p.Thr1014=)
|
rs111033507
|
0.00617
|
NM_000208.4(INSR):c.3370-15G>A
|
rs41300628
|
0.00616
|
NM_001173990.3(TMEM216):c.*21A>G
|
rs111371929
|
0.00615
|
NM_001384140.1(PCDH15):c.1702G>A (p.Ala568Thr)
|
rs61730754
|
0.00615
|
NM_003701.4(TNFSF11):c.*745T>C
|
rs12721444
|
0.00615
|
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg)
|
rs9397509
|
0.00615
|
NM_003193.5(TBCE):c.-93T>A
|
rs114193373
|
0.00614
|
NM_000070.3(CAPN3):c.495C>T (p.Phe165=)
|
rs1801324
|
0.00613
|
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys)
|
rs56273463
|
0.00613
|
NM_015702.3(MMADHC):c.473G>A (p.Arg158Gln)
|
rs114276563
|
0.00611
|
NM_018972.4(GDAP1):c.*1162T>C
|
rs113017051
|
0.00611
|
NM_000318.3(PEX2):c.*319A>G
|
rs78045204
|
0.00610
|
NM_001077365.2(POMT1):c.*206A>G
|
rs111470256
|
0.00610
|
NM_022124.6(CDH23):c.6990G>T (p.Leu2330=)
|
rs111033495
|
0.00610
|
NM_032575.3(GLIS2):c.1476G>A (p.Thr492=)
|
rs140403969
|
0.00608
|
NM_031885.5(BBS2):c.*13C>T
|
rs141170836
|
0.00607
|
NM_001367624.2(ZNF469):c.4421C>T (p.Ala1474Val)
|
rs199897247
|
0.00605
|
NM_000070.3(CAPN3):c.984C>T (p.Cys328=)
|
rs28364441
|
0.00600
|
NM_001267550.2(TTN):c.45350-13T>C
|
rs113084617
|
0.00600
|
NM_002180.3(IGHMBP2):c.256+9G>A
|
rs118015540
|
0.00600
|
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val)
|
rs138072724
|
0.00599
|
NM_000208.4(INSR):c.*498_*499insTT
|
rs71775166
|
0.00598
|
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr)
|
rs114026724
|
0.00598
|
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=)
|
rs74318065
|
0.00596
|
NM_024596.5(MCPH1):c.*199G>A
|
rs17317651
|
0.00596
|
NM_194248.3(OTOF):c.1185C>T (p.Thr395=)
|
rs61739877
|
0.00596
|
NM_001366722.1(GRIP1):c.2606G>A (p.Arg869Gln)
|
rs145115262
|
0.00595
|
NM_001267550.2(TTN):c.17312C>G (p.Thr5771Ser)
|
rs16866477
|
0.00593
|
NM_003383.5(VLDLR):c.-171G>C
|
rs35763266
|
0.00593
|
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln)
|
rs61729366
|
0.00592
|
NM_198428.3(BBS9):c.-305T>G
|
rs112060099
|
0.00592
|
NM_001267550.2(TTN):c.88858C>T (p.Leu29620=)
|
rs115070904
|
0.00590
|
NM_001367624.2(ZNF469):c.1994C>T (p.Pro665Leu)
|
rs184583062
|
0.00587
|
NM_001267550.2(TTN):c.2270C>T (p.Pro757Leu)
|
rs116307796
|
0.00586
|
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg)
|
rs142645936
|
0.00585
|
NM_001267550.2(TTN):c.17989G>A (p.Ala5997Thr)
|
rs72648946
|
0.00585
|
NM_000466.3(PEX1):c.3720C>T (p.His1240=)
|
rs34825053
|
0.00582
|
NM_006846.4(SPINK5):c.802C>T (p.Arg268Cys)
|
rs142558269
|
0.00581
|
NM_032119.4(ADGRV1):c.2553+11T>A
|
rs73181640
|
0.00580
|
NM_182961.4(SYNE1):c.4789-13G>A
|
rs142900784
|
0.00579
|
NM_000070.3(CAPN3):c.2381-12A>G
|
rs73402734
|
0.00578
|
NM_015404.4(WHRN):c.667C>T (p.Arg223Cys)
|
rs76593842
|
0.00578
|
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)
|
rs138036823
|
0.00577
|
NM_024753.5(TTC21B):c.2322+3A>G
|
rs79037278
|
0.00575
|
NM_017755.6(NSUN2):c.2143G>A (p.Val715Ile)
|
rs112951498
|
0.00574
|
NM_015910.7(WDPCP):c.1333G>C (p.Ala445Pro)
|
rs61734466
|
0.00572
|
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=)
|
rs72896268
|
0.00571
|
NM_015046.7(SETX):c.*319C>T
|
rs1056912
|
0.00570
|
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe)
|
rs141716975
|
0.00570
|
NM_001081.4(CUBN):c.7365T>A (p.Asp2455Glu)
|
rs117128556
|
0.00569
|
NM_002473.6(MYH9):c.*81C>T
|
rs56134611
|
0.00569
|
NM_005708.5(GPC6):c.*1261G>A
|
rs141909370
|
0.00569
|
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr)
|
rs111033282
|
0.00569
|
NM_020247.5(COQ8A):c.291C>T (p.Ser97=)
|
rs111529228
|
0.00567
|
NM_001194998.2(CEP152):c.3278G>A (p.Cys1093Tyr)
|
rs74012142
|
0.00563
|
NM_153717.3(EVC):c.284A>G (p.Asp95Gly)
|
rs41269547
|
0.00561
|
NM_021628.3(ALOXE3):c.-304G>T
|
rs79377087
|
0.00560
|
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=)
|
rs78996818
|
0.00559
|
NM_000784.4(CYP27A1):c.921G>A (p.Val307=)
|
rs147975335
|
0.00559
|
NM_001267550.2(TTN):c.24471C>T (p.Gly8157=)
|
rs113391261
|
0.00559
|
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=)
|
rs56345408
|
0.00559
|
NM_001267550.2(TTN):c.4739C>T (p.Thr1580Met)
|
rs73973147
|
0.00558
|
NM_005709.4(USH1C):c.1266G>A (p.Thr422=)
|
rs35188020
|
0.00558
|
NM_004525.3(LRP2):c.8892G>A (p.Arg2964=)
|
rs149148763
|
0.00557
|
NM_015404.4(WHRN):c.2046G>C (p.Arg682=)
|
rs35258467
|
0.00555
|
NM_002473.6(MYH9):c.136C>T (p.Leu46Phe)
|
rs147122501
|
0.00554
|
NM_001267550.2(TTN):c.69676A>G (p.Ser23226Gly)
|
rs72646885
|
0.00553
|
NM_002230.4(JUP):c.1774-13C>T
|
rs116772523
|
0.00553
|
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr)
|
rs56128843
|
0.00552
|
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp)
|
rs115338476
|
0.00551
|
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr)
|
rs56404770
|
0.00546
|
NM_182961.4(SYNE1):c.12000G>A (p.Ala4000=)
|
rs148493518
|
0.00546
|
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser)
|
rs55638457
|
0.00545
|
NM_015404.4(WHRN):c.2439G>A (p.Thr813=)
|
rs61743618
|
0.00545
|
NM_006846.4(SPINK5):c.2667-4G>A
|
rs180955184
|
0.00542
|
NM_032119.4(ADGRV1):c.4260A>G (p.Glu1420=)
|
rs61740119
|
0.00542
|
NM_001081.4(CUBN):c.6469A>G (p.Asn2157Asp)
|
rs144360241
|
0.00541
|
NM_000211.5(ITGB2):c.1888G>A (p.Glu630Lys)
|
rs2230531
|
0.00539
|
NM_001814.6(CTSC):c.319-15C>T
|
rs45539936
|
0.00539
|
NM_006208.3(ENPP1):c.*1122A>G
|
rs148507889
|
0.00539
|
NM_022124.6(CDH23):c.8022G>A (p.Gln2674=)
|
rs201733315
|
0.00539
|
NM_006019.4(TCIRG1):c.*68G>A
|
rs139720520
|
0.00538
|
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val)
|
rs146496725
|
0.00537
|
NM_000441.2(SLC26A4):c.*376A>G
|
rs540093295
|
0.00535
|
NM_001267550.2(TTN):c.42024+6T>C
|
rs140002940
|
0.00535
|
NM_001374623.1(PNPLA1):c.1595+430T>C
|
rs182222837
|
0.00534
|
NM_001267550.2(TTN):c.39709+6C>T
|
rs72650067
|
0.00533
|
NM_020779.4(WDR35):c.*531T>A
|
rs187092318
|
0.00530
|
NM_001099287.2(NIPAL4):c.*227T>A
|
rs181287300
|
0.00529
|
NM_001099287.2(NIPAL4):c.*228C>G
|
rs184168328
|
0.00529
|
NM_012210.4(TRIM32):c.*692C>G
|
rs116058338
|
0.00526
|
NM_014425.5(INVS):c.740A>G (p.Asn247Ser)
|
rs41312220
|
0.00526
|
NM_006208.3(ENPP1):c.*3176T>A
|
rs114333444
|
0.00525
|
NM_001127649.3(PEX26):c.*2311G>T
|
rs74714634
|
0.00524
|
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=)
|
rs144313291
|
0.00524
|
NM_153676.4(USH1C):c.101A>G (p.His34Arg)
|
rs75157409
|
0.00524
|
NM_000318.3(PEX2):c.*1842G>C
|
rs184573256
|
0.00523
|
NM_001127649.3(PEX26):c.*925A>G
|
rs115277831
|
0.00523
|
NM_002617.4(PEX10):c.6C>G (p.Ala2=)
|
rs112471479
|
0.00523
|
NM_002180.3(IGHMBP2):c.741C>T (p.Ala247=)
|
rs76707931
|
0.00520
|
NM_153676.4(USH1C):c.*42C>T
|
rs16934270
|
0.00520
|
NM_001267550.2(TTN):c.47723G>A (p.Arg15908His)
|
rs72677237
|
0.00519
|
NM_006996.3(SLC19A2):c.-114C>T
|
rs145285893
|
0.00519
|
NM_138694.4(PKHD1):c.9829+10T>G
|
rs143526199
|
0.00518
|
NM_002180.3(IGHMBP2):c.1104C>T (p.Tyr368=)
|
rs148157556
|
0.00517
|
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val)
|
rs79708859
|
0.00517
|
NM_018075.5(ANO10):c.1669-8T>G
|
rs115769245
|
0.00517
|
NM_032119.4(ADGRV1):c.9607T>A (p.Ser3203Thr)
|
rs116480183
|
0.00517
|
NM_000553.6(WRN):c.1725T>C (p.Tyr575=)
|
rs13438802
|
0.00516
|
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His)
|
rs56044609
|
0.00516
|
NM_022124.6(CDH23):c.3999G>A (p.Val1333=)
|
rs111033453
|
0.00516
|
NM_000124.4(ERCC6):c.*1981dup
|
rs557832376
|
0.00515
|
NM_012414.4(RAB3GAP2):c.*2327A>G
|
rs139079455
|
0.00513
|
NM_000260.4(MYO7A):c.4697C>T (p.Thr1566Met)
|
rs41298747
|
0.00512
|
NM_000553.6(WRN):c.1788T>C (p.Ser596=)
|
rs13438803
|
0.00512
|
NM_001351132.2(PEX5):c.*20G>C
|
rs145760932
|
0.00512
|
NM_018972.4(GDAP1):c.*723G>A
|
rs116863614
|
0.00512
|
NM_022124.6(CDH23):c.5297T>C (p.Phe1766Ser)
|
rs114745089
|
0.00511
|
NM_032119.4(ADGRV1):c.-67A>T
|
rs150816712
|
0.00511
|
NM_152618.3(BBS12):c.1103G>A (p.Arg368His)
|
rs78457123
|
0.00511
|
NM_000525.4(KCNJ11):c.108G>A (p.Val36=)
|
rs112070496
|
0.00509
|
NM_170784.3(MKKS):c.16G>A (p.Ala6Thr)
|
rs150920905
|
0.00508
|
NM_002180.3(IGHMBP2):c.151C>G (p.Gln51Glu)
|
rs117061430
|
0.00506
|
NM_000124.4(ERCC6):c.*2155T>C
|
rs114183603
|
0.00503
|
NM_001044385.3(TMEM237):c.80-11T>C
|
rs76296365
|
0.00503
|
NM_004153.4(ORC1):c.2314G>A (p.Val772Ile)
|
rs61753389
|
0.00503
|
NM_012233.2(RAB3GAP1):c.-53C>G
|
rs78560065
|
0.00503
|
NM_144508.5(KNL1):c.6212+5G>A
|
rs115900739
|
0.00501
|
NM_000543.5(SMPD1):c.813T>C (p.Pro271=)
|
rs61876771
|
0.00500
|
NM_000784.4(CYP27A1):c.524C>T (p.Thr175Met)
|
rs2229381
|
0.00498
|
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=)
|
rs76081119
|
0.00498
|
NM_001267550.2(TTN):c.91884A>T (p.Arg30628Ser)
|
rs144922355
|
0.00496
|
NM_006208.3(ENPP1):c.*1038T>A
|
rs79214335
|
0.00496
|
NM_013382.7(POMT2):c.652G>A (p.Asp218Asn)
|
rs140785104
|
0.00496
|
NM_000070.3(CAPN3):c.318C>T (p.Cys106=)
|
rs117609395
|
0.00495
|
NM_022124.6(CDH23):c.6687C>T (p.Asp2229=)
|
rs76463072
|
0.00494
|
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser)
|
rs147530802
|
0.00493
|
NM_001267550.2(TTN):c.24973A>G (p.Lys8325Glu)
|
rs72648984
|
0.00493
|
NM_018136.5(ASPM):c.6727G>T (p.Val2243Leu)
|
rs148425392
|
0.00493
|
NM_174878.3(CLRN1):c.*1027T>G
|
rs147434424
|
0.00493
|
NM_032119.4(ADGRV1):c.3482C>G (p.Ser1161Cys)
|
rs147062294
|
0.00492
|
NM_000211.5(ITGB2):c.*38T>C
|
rs114632253
|
0.00491
|
NM_001267550.2(TTN):c.21019A>T (p.Ile7007Phe)
|
rs114626713
|
0.00491
|
NM_000318.3(PEX2):c.*1040C>G
|
rs139337482
|
0.00490
|
NM_001351132.2(PEX5):c.*1097T>C
|
rs116107198
|
0.00489
|
NM_016219.5(MAN1B1):c.*223G>A
|
rs141959719
|
0.00488
|
NM_020247.5(COQ8A):c.1185C>T (p.Ile395=)
|
rs17849927
|
0.00488
|
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr)
|
rs117852025
|
0.00488
|
NM_000287.4(PEX6):c.330C>G (p.Thr110=)
|
rs140486558
|
0.00486
|
NM_033056.4(PCDH15):c.5550C>A (p.Thr1850=)
|
rs112097891
|
0.00486
|
NM_014425.5(INVS):c.725C>T (p.Ser242Leu)
|
rs2491097
|
0.00485
|
NM_001384140.1(PCDH15):c.3983+12T>C
|
rs149867749
|
0.00483
|
NM_001267550.2(TTN):c.68079G>A (p.Thr22693=)
|
rs11904444
|
0.00481
|
NM_001267550.2(TTN):c.95035G>A (p.Asp31679Asn)
|
rs116567963
|
0.00481
|
NM_001048166.1(STIL):c.3378A>G (p.Arg1126=)
|
rs142315727
|
0.00478
|
NM_001194998.2(CEP152):c.4914A>G (p.Pro1638=)
|
rs150910683
|
0.00477
|
NM_001194998.2(CEP152):c.*194G>A
|
rs144469727
|
0.00475
|
NM_012414.4(RAB3GAP2):c.961-14G>T
|
rs148886986
|
0.00475
|
NM_182961.4(SYNE1):c.1878A>G (p.Gln626=)
|
rs62427038
|
0.00474
|
NM_001367624.2(ZNF469):c.62G>A (p.Arg21His)
|
rs145178398
|
0.00473
|
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=)
|
rs34211419
|
0.00473
|
NM_000506.5(F2):c.1824C>T (p.Arg608=)
|
rs3136532
|
0.00472
|
NM_002860.4(ALDH18A1):c.2207-3C>T
|
rs149309642
|
0.00472
|
NM_004153.4(ORC1):c.57G>C (p.Arg19Ser)
|
rs3087473
|
0.00472
|
NM_001267550.2(TTN):c.*587T>A
|
rs114788736
|
0.00471
|
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys)
|
rs72648942
|
0.00471
|
NM_015046.7(SETX):c.2672T>C (p.Val891Ala)
|
rs148181729
|
0.00470
|
NM_022464.5(SIL1):c.368C>T (p.Thr123Ile)
|
rs115800498
|
0.00470
|
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=)
|
rs72646857
|
0.00468
|
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys)
|
rs41288013
|
0.00466
|
NM_018972.4(GDAP1):c.*1819T>C
|
rs141157275
|
0.00466
|
NM_000271.5(NPC1):c.2073G>A (p.Pro691=)
|
rs113013085
|
0.00465
|
NM_001081.4(CUBN):c.2756A>G (p.His919Arg)
|
rs148869805
|
0.00464
|
NM_001267550.2(TTN):c.33742+11A>G
|
rs72650042
|
0.00463
|
NM_001267550.2(TTN):c.32350C>G (p.Leu10784Val)
|
rs72650029
|
0.00461
|
NM_005529.7(HSPG2):c.1998+9C>T
|
rs377228309
|
0.00461
|
NM_001048166.1(STIL):c.3786G>A (p.Thr1262=)
|
rs146387723
|
0.00460
|
NM_001194998.2(CEP152):c.1866G>T (p.Leu622=)
|
rs61737684
|
0.00460
|
NM_021830.5(TWNK):c.*455C>T
|
rs148810959
|
0.00460
|
NM_000260.3(MYO7A):c.*546C>T
|
rs115812166
|
0.00459
|
NM_001267550.2(TTN):c.60055G>A (p.Glu20019Lys)
|
rs201487340
|
0.00458
|
NM_000441.2(SLC26A4):c.416-13T>C
|
rs77553387
|
0.00455
|
NM_012233.3(RAB3GAP1):c.*303G>A
|
rs72980321
|
0.00455
|
NM_012414.4(RAB3GAP2):c.*2638C>T
|
rs74139286
|
0.00455
|
NM_018718.3(CEP41):c.208-5A>G
|
rs11765434
|
0.00453
|
NM_138694.4(PKHD1):c.11738G>A (p.Arg3913His)
|
rs2661487
|
0.00453
|
NM_153717.3(EVC):c.469C>G (p.Pro157Ala)
|
rs146729456
|
0.00451
|
NM_000211.5(ITGB2):c.*167C>T
|
rs561251271
|
0.00450
|
NM_003619.4(PRSS12):c.51A>G (p.Glu17=)
|
rs144853134
|
0.00447
|
NM_004937.3(CTNS):c.*2132G>A
|
rs74485511
|
0.00447
|
NM_022124.6(CDH23):c.9758A>C (p.Asp3253Ala)
|
rs140463385
|
0.00447
|
NM_001267550.2(TTN):c.101697C>T (p.Asp33899=)
|
rs114267234
|
0.00446
|
NM_003630.3(PEX3):c.-4A>G
|
rs116692495
|
0.00446
|
NM_012414.4(RAB3GAP2):c.*2464T>C
|
rs111341601
|
0.00444
|
NM_153717.3(EVC):c.*2126T>G
|
rs191415414
|
0.00444
|
NM_001267550.2(TTN):c.3668C>T (p.Ala1223Val)
|
rs78269740
|
0.00443
|
NM_001099287.2(NIPAL4):c.*623T>C
|
rs138577196
|
0.00441
|
NM_003193.5(TBCE):c.101-5G>A
|
rs113829976
|
0.00440
|
NM_016219.5(MAN1B1):c.1566+14C>T
|
rs201606936
|
0.00440
|
NM_152618.3(BBS12):c.355G>A (p.Gly119Ser)
|
rs77731085
|
0.00439
|
NM_153704.6(TMEM67):c.2952A>G (p.Ala984=)
|
rs115967793
|
0.00439
|
NM_000057.4(BLM):c.4076+4T>G
|
rs183176301
|
0.00436
|
NM_000317.3(PTS):c.315-3T>C
|
rs189365250
|
0.00436
|
NM_015910.7(WDPCP):c.-188G>C
|
rs187916591
|
0.00436
|
NM_000553.6(WRN):c.*415C>G
|
rs11574412
|
0.00435
|
NM_152618.3(BBS12):c.1451G>A (p.Arg484Lys)
|
rs35690634
|
0.00435
|
NM_000352.6(ABCC8):c.354C>T (p.Val118=)
|
rs137873871
|
0.00434
|
NM_004560.4(ROR2):c.-60G>T
|
rs184095609
|
0.00434
|
NM_182961.4(SYNE1):c.23315G>A (p.Arg7772Gln)
|
rs138787771
|
0.00432
|
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr)
|
rs151117904
|
0.00431
|
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His)
|
rs143044921
|
0.00430
|
NM_001134831.2(AHI1):c.2972G>A (p.Arg991His)
|
rs35851478
|
0.00429
|
NM_002857.4(PEX19):c.771+3A>G
|
rs141133579
|
0.00429
|
NM_032119.4(ADGRV1):c.5525-7C>T
|
rs137853919
|
0.00429
|
NM_001384140.1(PCDH15):c.1590+15A>G
|
rs565203752
|
0.00428
|
NM_018136.5(ASPM):c.5741A>G (p.Gln1914Arg)
|
rs113325473
|
0.00427
|
NM_000352.4(ABCC8):c.-72G>A
|
rs541244107
|
0.00426
|
NM_003860.4(BANF1):c.*100C>T
|
rs145574018
|
0.00424
|
NM_015404.4(WHRN):c.2586C>A (p.His862Gln)
|
rs117592152
|
0.00424
|
NM_024753.5(TTC21B):c.*1225C>T
|
rs60399987
|
0.00424
|
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr)
|
rs111033481
|
0.00424
|
NM_025216.3(WNT10A):c.*216G>C
|
rs552325173
|
0.00422
|
NM_001127671.2(LIFR):c.954C>T (p.Thr318=)
|
rs61748202
|
0.00421
|
NM_006892.4(DNMT3B):c.*942A>T
|
rs55901282
|
0.00421
|
NM_033028.5(BBS4):c.*43G>T
|
rs144706746
|
0.00421
|
NM_001044385.3(TMEM237):c.*3453T>G
|
rs77771615
|
0.00420
|
NM_015102.5(NPHP4):c.2293G>A (p.Val765Ile)
|
rs149244006
|
0.00420
|
NM_022124.6(CDH23):c.*361C>A
|
rs115033851
|
0.00420
|
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser)
|
rs61737992
|
0.00419
|
NM_001267550.2(TTN):c.25008C>T (p.Cys8336=)
|
rs116378128
|
0.00419
|
NM_018136.5(ASPM):c.-28G>A
|
rs111299108
|
0.00419
|
NM_000553.6(WRN):c.4015G>A (p.Val1339Ile)
|
rs11574395
|
0.00418
|
NM_001044385.3(TMEM237):c.*2137A>G
|
rs115353606
|
0.00418
|
NM_001044385.3(TMEM237):c.*2349C>T
|
rs74884418
|
0.00418
|
NM_001044385.3(TMEM237):c.*3372C>T
|
rs192214909
|
0.00418
|
NM_015102.5(NPHP4):c.2681A>G (p.His894Arg)
|
rs113097479
|
0.00418
|
NM_001044385.3(TMEM237):c.*1107C>T
|
rs143516209
|
0.00417
|
NM_001044385.3(TMEM237):c.*1975C>G
|
rs142233268
|
0.00417
|
NM_001044385.3(TMEM237):c.*2719G>A
|
rs142852956
|
0.00417
|
NM_001044385.3(TMEM237):c.*2180G>A
|
rs77649251
|
0.00416
|
NM_001083961.2(WDR62):c.3946C>G (p.Gln1316Glu)
|
rs35811023
|
0.00416
|
NM_000286.3(PEX12):c.*509T>G
|
rs192370696
|
0.00415
|
NM_012233.3(RAB3GAP1):c.1006C>T (p.Arg336Cys)
|
rs150478342
|
0.00415
|
NM_182961.4(SYNE1):c.11187G>T (p.Lys3729Asn)
|
rs143070183
|
0.00415
|
NM_017433.5(MYO3A):c.3589G>A (p.Glu1197Lys)
|
rs75801377
|
0.00414
|
NM_032119.4(ADGRV1):c.4254T>C (p.Tyr1418=)
|
rs149459739
|
0.00414
|
NM_000553.6(WRN):c.*194C>T
|
rs11574411
|
0.00413
|
NM_020631.6(PLEKHG5):c.1254C>G (p.Pro418=)
|
rs139904931
|
0.00411
|
NM_000163.5(GHR):c.535C>T (p.Arg179Cys)
|
rs121909362
|
0.00410
|
NM_014053.4(FLVCR1):c.-87G>A
|
rs41296692
|
0.00410
|
NM_001366722.1(GRIP1):c.*1314G>A
|
rs144894732
|
0.00409
|
NM_000260.4(MYO7A):c.5835C>T (p.Leu1945=)
|
rs111033476
|
0.00408
|
NM_002617.4(PEX10):c.*676C>T
|
rs77863194
|
0.00408
|
NM_001267550.2(TTN):c.59165T>C (p.Val19722Ala)
|
rs116592778
|
0.00406
|
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg)
|
rs141287105
|
0.00406
|
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)
|
rs188164241
|
0.00405
|
NM_144508.5(KNL1):c.6034A>G (p.Ile2012Val)
|
rs74970544
|
0.00405
|
NM_153240.5(NPHP3):c.2089-9C>T
|
rs141397228
|
0.00404
|
NM_024596.5(MCPH1):c.1845A>C (p.Thr615=)
|
rs186547090
|
0.00403
|
NM_012463.4(ATP6V0A2):c.*998T>C
|
rs12298446
|
0.00401
|
NM_000208.4(INSR):c.*501T>G
|
rs562228680
|
0.00400
|
NM_001814.5(CTSC):c.-91T>G
|
rs144306006
|
0.00400
|
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln)
|
rs141340867
|
0.00398
|
NM_207361.6(FREM2):c.*6265G>A
|
rs149647289
|
0.00397
|
NM_001044385.3(TMEM237):c.*1588G>A
|
rs150141936
|
0.00396
|
NM_006005.3(WFS1):c.1675G>A (p.Ala559Thr)
|
rs55814513
|
0.00396
|
NM_018136.5(ASPM):c.4213C>T (p.Arg1405Cys)
|
rs139367209
|
0.00396
|
NM_033064.5(ATCAY):c.*871T>G
|
rs183948049
|
0.00396
|
NM_174878.3(CLRN1):c.*1191T>C
|
rs113817098
|
0.00396
|
NM_182961.4(SYNE1):c.10037C>A (p.Ser3346Tyr)
|
rs150170988
|
0.00396
|
NM_182961.4(SYNE1):c.10056T>C (p.Ser3352=)
|
rs140861713
|
0.00395
|
NM_000208.4(INSR):c.*2820G>A
|
rs139376149
|
0.00394
|
NM_014425.5(INVS):c.1948G>C (p.Ala650Pro)
|
rs147452898
|
0.00394
|
NM_139319.3(SLC17A8):c.*480C>T
|
rs118030087
|
0.00394
|
NM_018136.5(ASPM):c.7554A>G (p.Arg2518=)
|
rs140248383
|
0.00393
|
NM_033064.5(ATCAY):c.*313G>A
|
rs141455019
|
0.00392
|
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys)
|
rs35932623
|
0.00390
|
NM_000162.5(GCK):c.*92C>A
|
rs557990162
|
0.00389
|
NM_001267550.2(TTN):c.*130G>C
|
rs144026962
|
0.00388
|
NM_004937.3(CTNS):c.*2119G>T
|
rs80249487
|
0.00388
|
NM_182961.4(SYNE1):c.1983C>T (p.Asn661=)
|
rs149670417
|
0.00388
|
NM_017875.4(SLC25A38):c.239C>G (p.Thr80Arg)
|
rs144149294
|
0.00385
|
NM_022124.6(CDH23):c.*515C>A
|
rs16929375
|
0.00385
|
NM_144508.5(KNL1):c.5799-9G>A
|
rs114041699
|
0.00385
|
NM_014425.5(INVS):c.2116A>G (p.Arg706Gly)
|
rs116222916
|
0.00384
|
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=)
|
rs41288017
|
0.00383
|
NM_005219.5(DIAPH1):c.*217C>T
|
rs55934506
|
0.00382
|
NM_001127649.3(PEX26):c.815-13C>T
|
rs139370593
|
0.00381
|
NM_032119.4(ADGRV1):c.3956G>A (p.Arg1319Gln)
|
rs73181648
|
0.00381
|
NM_032119.4(ADGRV1):c.6318G>A (p.Ala2106=)
|
rs190981860
|
0.00381
|
NM_182961.4(SYNE1):c.1794A>C (p.Ser598=)
|
rs141424852
|
0.00381
|
NM_001194998.2(CEP152):c.4094-9A>T
|
rs80090788
|
0.00380
|
NM_001044385.3(TMEM237):c.*2431T>G
|
rs142355657
|
0.00379
|
NM_001267550.2(TTN):c.7740T>G (p.Ile2580Met)
|
rs146590898
|
0.00379
|
NM_022124.6(CDH23):c.9510+13C>T
|
rs183692794
|
0.00379
|
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile)
|
rs116099212
|
0.00379
|
NM_001077365.2(POMT1):c.2060C>T (p.Ala687Val)
|
rs138171526
|
0.00378
|
NM_018136.5(ASPM):c.3791G>A (p.Arg1264His)
|
rs150125249
|
0.00378
|
NM_148919.4(PSMB8):c.483G>A (p.Gln161=)
|
rs41270492
|
0.00378
|
NM_000782.5(CYP24A1):c.470G>A (p.Arg157Gln)
|
rs35051736
|
0.00377
|
NM_002617.4(PEX10):c.*595G>A
|
rs72924937
|
0.00377
|
NM_173477.5(USH1G):c.*1098T>A
|
rs116670727
|
0.00377
|
NM_000208.4(INSR):c.*1870C>G
|
rs41315072
|
0.00376
|
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro)
|
rs113268723
|
0.00376
|
NM_024753.5(TTC21B):c.*656G>A
|
rs180737925
|
0.00376
|
NM_016938.5(EFEMP2):c.138C>T (p.Asp46=)
|
rs2234457
|
0.00375
|
NM_032575.3(GLIS2):c.*399T>G
|
rs189481658
|
0.00375
|
NM_000543.5(SMPD1):c.901G>A (p.Val301Ile)
|
rs2723669
|
0.00374
|
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val)
|
rs139767853
|
0.00374
|
NM_001194998.2(CEP152):c.3325G>C (p.Ala1109Pro)
|
rs115832709
|
0.00373
|
NM_005529.7(HSPG2):c.3269G>A (p.Arg1090Gln)
|
rs78889849
|
0.00373
|
NM_000260.4(MYO7A):c.5481-14G>A
|
rs113075052
|
0.00372
|
NM_000318.3(PEX2):c.*2443A>G
|
rs76770837
|
0.00372
|
NM_001267550.2(TTN):c.25978G>A (p.Val8660Ile)
|
rs141856116
|
0.00372
|
NM_000271.5(NPC1):c.1947+14_1947+15insC
|
rs201170241
|
0.00371
|
NM_000543.5(SMPD1):c.99G>A (p.Met33Ile)
|
rs142178073
|
0.00371
|
NM_001081.4(CUBN):c.9125A>G (p.Asn3042Ser)
|
rs142581908
|
0.00371
|
NM_016219.5(MAN1B1):c.861C>T (p.Leu287=)
|
rs142928152
|
0.00371
|
NM_017755.6(NSUN2):c.2300G>A (p.Arg767Gln)
|
rs140673211
|
0.00371
|
NM_025114.4(CEP290):c.1522+6C>T
|
rs148446546
|
0.00371
|
NM_000123.4(ERCC5):c.945C>T (p.His315=)
|
rs34061299
|
0.00370
|
NM_004836.7(EIF2AK3):c.154G>A (p.Ala52Thr)
|
rs201593811
|
0.00370
|
NM_021252.5(RAB18):c.*2974C>G
|
rs532562164
|
0.00370
|
NM_003896.4(ST3GAL5):c.648C>T (p.Phe216=)
|
rs149309844
|
0.00369
|
NM_012414.4(RAB3GAP2):c.*2399A>G
|
rs115637988
|
0.00369
|
NM_015294.6(TRIM37):c.1748C>A (p.Pro583His)
|
rs147363016
|
0.00368
|
NM_018451.5(CENPJ):c.1233G>A (p.Pro411=)
|
rs112133852
|
0.00368
|
NM_000334.4(SCN4A):c.2645C>A (p.Pro882Gln)
|
rs111858905
|
0.00367
|
NM_015102.5(NPHP4):c.1503+10G>A
|
rs41307782
|
0.00367
|
NM_018972.4(GDAP1):c.*1006C>T
|
rs145523828
|
0.00367
|
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu)
|
rs190983114
|
0.00366
|
NM_147127.5(EVC2):c.2047-9A>T
|
rs73198154
|
0.00366
|
NM_001139.3(ALOX12B):c.1179C>T (p.His393=)
|
rs112835279
|
0.00365
|
NM_004100.5(EYA4):c.*2044A>G
|
rs59167148
|
0.00365
|
NM_000124.4(ERCC6):c.*3921A>G
|
rs533984667
|
0.00364
|
NM_001081.4(CUBN):c.10383C>T (p.Ser3461=)
|
rs141937843
|
0.00363
|
NM_001395413.1(POR):c.508-14_508-13del
|
rs72557912
|
0.00363
|
NM_153240.5(NPHP3):c.520-10C>G
|
rs200144727
|
0.00362
|
NM_000318.3(PEX2):c.*789C>T
|
rs144050052
|
0.00361
|
NM_182961.4(SYNE1):c.3188T>C (p.Val1063Ala)
|
rs141464488
|
0.00359
|
NM_001081.4(CUBN):c.1794C>T (p.Tyr598=)
|
rs140184467
|
0.00358
|
NM_001394148.2(LOC128706665):c.*87A>G
|
rs140884406
|
0.00358
|
NM_004560.4(ROR2):c.2285C>T (p.Ser762Leu)
|
rs34491822
|
0.00357
|
NM_005529.7(HSPG2):c.1082C>A (p.Thr361Asn)
|
rs75467696
|
0.00357
|
NM_147127.5(EVC2):c.2601C>T (p.Ala867=)
|
rs116514447
|
0.00357
|
NM_147127.5(EVC2):c.707-4G>A
|
rs113806963
|
0.00357
|
NM_024753.5(TTC21B):c.724G>A (p.Asp242Asn)
|
rs74447004
|
0.00356
|
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg)
|
rs148509395
|
0.00356
|
NM_194248.3(OTOF):c.*220C>T
|
rs72853716
|
0.00356
|
NM_012414.4(RAB3GAP2):c.*1404T>C
|
rs188666578
|
0.00355
|
NM_024753.5(TTC21B):c.1571C>G (p.Ser524Cys)
|
rs145436538
|
0.00355
|
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp)
|
rs72648964
|
0.00354
|
NM_144596.4(TTC8):c.194A>G (p.Asp65Gly)
|
rs114557412
|
0.00354
|
NM_000271.5(NPC1):c.3441C>T (p.Ile1147=)
|
rs116436235
|
0.00352
|
NM_000525.4(KCNJ11):c.-498T>C
|
rs529946415
|
0.00352
|
NM_001143992.2(WRAP53):c.823-10C>T
|
rs117192546
|
0.00352
|
NM_000208.4(INSR):c.*394del
|
rs140291876
|
0.00350
|
NM_000208.4(INSR):c.2193G>A (p.Thr731=)
|
rs6413501
|
0.00350
|
NM_002617.4(PEX10):c.621C>G (p.Pro207=)
|
rs140107510
|
0.00350
|
NM_001184.4(ATR):c.6394T>G (p.Tyr2132Asp)
|
rs28910273
|
0.00349
|
NM_207361.6(FREM2):c.4319C>A (p.Thr1440Lys)
|
rs79048205
|
0.00348
|
NM_000208.4(INSR):c.2946-14T>C
|
rs138585749
|
0.00347
|
NM_001099287.2(NIPAL4):c.*32C>T
|
rs62388499
|
0.00347
|
NM_014053.4(FLVCR1):c.*166G>A
|
rs41301017
|
0.00347
|
NM_015046.7(SETX):c.472T>G (p.Leu158Val)
|
rs145438764
|
0.00347
|
NM_022124.6(CDH23):c.2954-14G>A
|
rs191534381
|
0.00347
|
NM_001098484.3(SLC4A4):c.2436A>G (p.Lys812=)
|
rs34772799
|
0.00346
|
NM_182961.4(SYNE1):c.11485A>G (p.Thr3829Ala)
|
rs115786671
|
0.00346
|
NM_006846.4(SPINK5):c.3183G>A (p.Pro1061=)
|
rs77756935
|
0.00345
|
NM_144709.4(PUS10):c.-16+254C>G
|
rs147461642
|
0.00345
|
NM_017875.4(SLC25A38):c.196A>G (p.Arg66Gly)
|
rs34127778
|
0.00344
|
NM_025074.7(FRAS1):c.5046C>G (p.Asp1682Glu)
|
rs35219594
|
0.00344
|
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg)
|
rs187401185
|
0.00343
|
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=)
|
rs56151652
|
0.00343
|
NM_004525.3(LRP2):c.149C>G (p.Thr50Ser)
|
rs114460450
|
0.00342
|
NM_006642.5(SDCCAG8):c.986C>T (p.Thr329Met)
|
rs35859404
|
0.00342
|
NM_015294.6(TRIM37):c.*759T>C
|
rs191702204
|
0.00341
|
NM_144508.5(KNL1):c.6131C>T (p.Pro2044Leu)
|
rs116439389
|
0.00341
|
NM_001374623.1(PNPLA1):c.1595+544A>G
|
rs145087163
|
0.00340
|
NM_004525.3(LRP2):c.403G>A (p.Asp135Asn)
|
rs142594441
|
0.00340
|
NM_016219.5(MAN1B1):c.1146A>G (p.Gly382=)
|
rs113389928
|
0.00340
|
NM_001044385.3(TMEM237):c.*2480T>G
|
rs75655554
|
0.00337
|
NM_004525.3(LRP2):c.*444G>A
|
rs114836292
|
0.00337
|
NM_015311.3(OBSL1):c.4732C>T (p.Gln1578Ter)
|
rs116131367
|
0.00337
|
NM_001081.4(CUBN):c.*769G>A
|
rs149618660
|
0.00335
|
NM_033064.5(ATCAY):c.*26T>C
|
rs190923267
|
0.00335
|
NM_001267550.2(TTN):c.10114+5G>A
|
rs115985443
|
0.00334
|
NM_020631.6(PLEKHG5):c.1724C>T (p.Pro575Leu)
|
rs77134982
|
0.00334
|
NM_025074.7(FRAS1):c.*3142G>T
|
rs183140136
|
0.00334
|
NM_147127.5(EVC2):c.1224C>T (p.Ala408=)
|
rs114629810
|
0.00334
|
NM_000414.4(HSD17B4):c.*278T>A
|
rs149665666
|
0.00333
|
NM_018136.5(ASPM):c.6775T>C (p.Leu2259=)
|
rs140922974
|
0.00333
|
NM_001077365.2(POMT1):c.1585-14C>T
|
rs78529026
|
0.00332
|
NM_016042.4(EXOSC3):c.*881A>G
|
rs143319153
|
0.00332
|
NM_130384.3(ATRIP):c.*267T>C
|
rs148393533
|
0.00332
|
NM_033064.5(ATCAY):c.647+10C>T
|
rs181866005
|
0.00331
|
NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly)
|
rs187947581
|
0.00330
|
NM_020661.4(AICDA):c.*1139A>G
|
rs773190855
|
0.00330
|
NM_032119.4(ADGRV1):c.6383G>A (p.Arg2128Gln)
|
rs149390094
|
0.00330
|
NM_001351132.2(PEX5):c.*114C>T
|
rs187571620
|
0.00329
|
NM_002860.4(ALDH18A1):c.*292C>T
|
rs78053774
|
0.00329
|
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=)
|
rs117370446
|
0.00329
|
NM_207361.6(FREM2):c.5642-12T>C
|
rs144415935
|
0.00329
|
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys)
|
rs138490756
|
0.00328
|
NM_015102.5(NPHP4):c.4237G>A (p.Asp1413Asn)
|
rs115910810
|
0.00328
|
NM_004525.3(LRP2):c.6967C>T (p.Leu2323=)
|
rs149367019
|
0.00326
|
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met)
|
rs143669458
|
0.00326
|
NM_016239.4(MYO15A):c.1385G>A (p.Gly462Asp)
|
rs145292219
|
0.00326
|
NM_000123.4(ERCC5):c.1880C>A (p.Ala627Glu)
|
rs2227870
|
0.00325
|
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr)
|
rs61731363
|
0.00325
|
NM_017777.3(MKS1):c.-64T>C
|
rs372127517
|
0.00325
|
NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln)
|
rs114764023
|
0.00325
|
NM_207361.6(FREM2):c.8460C>G (p.Ala2820=)
|
rs138775857
|
0.00325
|
NM_001077365.2(POMT1):c.1698C>T (p.Ser566=)
|
rs150814269
|
0.00324
|
NM_004565.3(PEX14):c.349G>T (p.Ala117Ser)
|
rs12061667
|
0.00324
|
NM_022124.6(CDH23):c.4875G>A (p.Val1625=)
|
rs149664909
|
0.00324
|
NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro)
|
rs57479434
|
0.00323
|
NM_001267550.2(TTN):c.58636G>C (p.Glu19546Gln)
|
rs201840554
|
0.00323
|
NM_001267550.2(TTN):c.70832C>T (p.Ala23611Val)
|
rs72646891
|
0.00322
|
NM_003839.4(TNFRSF11A):c.570C>T (p.Ser190=)
|
rs12721430
|
0.00322
|
NM_022336.4(EDAR):c.*1366A>G
|
rs187951842
|
0.00322
|
NM_000243.3(MEFV):c.1759+8C>T
|
rs77380520
|
0.00321
|
NM_001017420.3(ESCO2):c.1647T>C (p.Ile549=)
|
rs73568217
|
0.00321
|
NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=)
|
rs111866498
|
0.00321
|
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val)
|
rs140951974
|
0.00320
|
NM_147127.5(EVC2):c.864C>T (p.Asn288=)
|
rs144730069
|
0.00320
|
NM_032575.3(GLIS2):c.*23G>A
|
rs146555568
|
0.00319
|
NM_144596.4(TTC8):c.1401G>A (p.Pro467=)
|
rs114064158
|
0.00319
|
NM_147127.5(EVC2):c.1471-7T>C
|
rs150842594
|
0.00319
|
NM_001128178.3(NPHP1):c.*194T>C
|
rs189472793
|
0.00318
|
NM_012414.4(RAB3GAP2):c.*1271C>T
|
rs193019999
|
0.00318
|
NM_001254.4(CDC6):c.*733A>G
|
rs544343681
|
0.00317
|
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=)
|
rs140003804
|
0.00317
|
NM_015311.3(OBSL1):c.3159C>T (p.Pro1053=)
|
rs115417324
|
0.00317
|
NM_003701.4(TNFSF11):c.45G>A (p.Ser15=)
|
rs200121871
|
0.00316
|
NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=)
|
rs137853918
|
0.00316
|
NM_001042545.2(LTBP4):c.1238G>A (p.Gly413Asp)
|
rs114749335
|
0.00315
|
NM_012463.4(ATP6V0A2):c.-117C>T
|
rs532360215
|
0.00315
|
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln)
|
rs76646638
|
0.00314
|
NM_006846.4(SPINK5):c.1964G>A (p.Gly655Asp)
|
rs142227576
|
0.00313
|
NM_018451.5(CENPJ):c.*570T>C
|
rs139596189
|
0.00313
|
NM_002292.4(LAMB2):c.3858G>T (p.Val1286=)
|
rs34967349
|
0.00312
|
NM_207361.6(FREM2):c.*2428G>A
|
rs145248293
|
0.00312
|
NM_001083961.2(WDR62):c.3812C>T (p.Ala1271Val)
|
rs111294536
|
0.00310
|
NM_001099287.2(NIPAL4):c.110T>C (p.Val37Ala)
|
rs183419459
|
0.00310
|
NM_004560.4(ROR2):c.937+10C>T
|
rs201083970
|
0.00310
|
NM_022464.5(SIL1):c.152C>T (p.Thr51Ile)
|
rs144192049
|
0.00310
|
NM_016219.5(MAN1B1):c.1499G>A (p.Arg500Gln)
|
rs149339002
|
0.00309
|
NM_153717.3(EVC):c.1127C>T (p.Ala376Val)
|
rs142535134
|
0.00309
|
NM_170707.4(LMNA):c.811-13T>A
|
rs80356809
|
0.00309
|
NM_001267550.2(TTN):c.32750C>T (p.Pro10917Leu)
|
rs73973137
|
0.00308
|
NM_207361.6(FREM2):c.*6289C>T
|
rs530348914
|
0.00308
|
NM_001134831.2(AHI1):c.1791C>T (p.Ile597=)
|
rs150425546
|
0.00307
|
NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser)
|
rs143522987
|
0.00307
|
NM_001127671.2(LIFR):c.2498-7G>A
|
rs113078097
|
0.00306
|
NM_001081.4(CUBN):c.10267G>A (p.Val3423Ile)
|
rs145872906
|
0.00305
|
NM_001378615.1(CC2D2A):c.-87G>A
|
rs145443888
|
0.00305
|
NM_005529.7(HSPG2):c.10937G>A (p.Arg3646His)
|
rs112062179
|
0.00305
|
NM_138387.4(G6PC3):c.-194C>T
|
rs28370440
|
0.00305
|
NM_001081.4(CUBN):c.5680A>G (p.Ile1894Val)
|
rs76789390
|
0.00304
|
NM_001374623.1(PNPLA1):c.745G>A (p.Glu249Lys)
|
rs45524833
|
0.00304
|
NM_015046.7(SETX):c.7724C>T (p.Pro2575Leu)
|
rs34000644
|
0.00304
|
NM_000057.4(BLM):c.2160C>T (p.Ile720=)
|
rs28385028
|
0.00303
|
NM_000318.3(PEX2):c.*1448C>T
|
rs184740361
|
0.00303
|
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln)
|
rs188101277
|
0.00303
|
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu)
|
rs142813109
|
0.00303
|
NM_024596.5(MCPH1):c.1495G>A (p.Val499Met)
|
rs146586991
|
0.00302
|
NM_025074.7(FRAS1):c.6301C>T (p.His2101Tyr)
|
rs183398121
|
0.00302
|
NM_001267550.2(TTN):c.30426C>T (p.Asp10142=)
|
rs147524531
|
0.00301
|
NM_001145809.2(MYH14):c.*427T>C
|
rs190088995
|
0.00299
|
NM_006208.3(ENPP1):c.2657G>C (p.Arg886Thr)
|
rs8192683
|
0.00299
|
NM_032575.3(GLIS2):c.*796G>C
|
rs111818339
|
0.00299
|
NM_003193.5(TBCE):c.214C>T (p.Pro72Ser)
|
rs62620041
|
0.00297
|
NM_006846.4(SPINK5):c.2243A>G (p.Glu748Gly)
|
rs181639116
|
0.00297
|
NM_020632.3(ATP6V0A4):c.2481A>G (p.Pro827=)
|
rs6956646
|
0.00297
|
NM_000162.5(GCK):c.46-12C>T
|
rs142829768
|
0.00296
|
NM_001127671.2(LIFR):c.*2570G>C
|
rs113730751
|
0.00296
|
NM_025074.7(FRAS1):c.8832C>T (p.Ser2944=)
|
rs114854941
|
0.00296
|
NM_000260.4(MYO7A):c.4698G>A (p.Thr1566=)
|
rs200207753
|
0.00295
|
NM_001127671.2(LIFR):c.*2567G>A
|
rs112458059
|
0.00295
|
NM_001267550.2(TTN):c.2765G>A (p.Arg922His)
|
rs56046320
|
0.00295
|
NM_005529.7(HSPG2):c.4877G>A (p.Arg1626His)
|
rs41311989
|
0.00293
|
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu)
|
rs36024203
|
0.00293
|
NM_000271.5(NPC1):c.3477+4A>G
|
rs114073738
|
0.00292
|
NM_001042545.2(LTBP4):c.1491G>T (p.Arg497=)
|
rs117273116
|
0.00290
|
NM_001351132.2(PEX5):c.1053G>A (p.Leu351=)
|
rs61740909
|
0.00290
|
NM_001374623.1(PNPLA1):c.383C>T (p.Thr128Met)
|
rs140585347
|
0.00290
|
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn)
|
rs41302885
|
0.00290
|
NM_144596.4(TTC8):c.-25G>A
|
rs7145692
|
0.00290
|
NM_182961.4(SYNE1):c.11541G>A (p.Met3847Ile)
|
rs74463786
|
0.00290
|
NM_001098484.3(SLC4A4):c.550+3A>G
|
rs199790542
|
0.00289
|
NM_021628.3(ALOXE3):c.1786-10G>A
|
rs148606343
|
0.00289
|
NM_022124.6(CDH23):c.2970C>T (p.Asp990=)
|
rs56216952
|
0.00289
|
NM_139319.3(SLC17A8):c.*1090A>T
|
rs540751555
|
0.00289
|
NM_018389.4(SLC35C1):c.-665C>T
|
rs530622849
|
0.00288
|
NM_001267550.2(TTN):c.7061G>A (p.Arg2354His)
|
rs75031300
|
0.00287
|
NM_002618.4(PEX13):c.*944C>T
|
rs148184159
|
0.00287
|
NM_018718.3(CEP41):c.*136T>G
|
rs148305542
|
0.00287
|
NM_153717.3(EVC):c.*491C>T
|
rs114993332
|
0.00287
|
NM_198428.3(BBS9):c.2216C>T (p.Ala739Val)
|
rs116483694
|
0.00287
|
NM_018718.3(CEP41):c.*4314T>C
|
rs114939029
|
0.00286
|
NM_147127.5(EVC2):c.122C>A (p.Pro41His)
|
rs544397395
|
0.00286
|
NM_020779.4(WDR35):c.2262C>T (p.Asp754=)
|
rs147206032
|
0.00285
|
NM_203486.3(DLL3):c.160C>A (p.Leu54Ile)
|
rs200673897
|
0.00285
|
NM_000352.6(ABCC8):c.1926C>G (p.Pro642=)
|
rs75376282
|
0.00284
|
NM_002618.4(PEX13):c.*3012A>G
|
rs144691386
|
0.00283
|
NM_015102.5(NPHP4):c.3036C>T (p.Pro1012=)
|
rs34265978
|
0.00283
|
NM_182961.4(SYNE1):c.2995G>A (p.Glu999Lys)
|
rs148346599
|
0.00283
|
NM_207361.6(FREM2):c.*2390_*2392del
|
rs149897768
|
0.00283
|
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val)
|
rs141641266
|
0.00282
|
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His)
|
rs181104321
|
0.00282
|
NM_002618.4(PEX13):c.*1724A>T
|
rs137932203
|
0.00282
|
NM_015702.3(MMADHC):c.-8C>T
|
rs180812156
|
0.00282
|
NM_152618.3(BBS12):c.-61G>C
|
rs59440868
|
0.00282
|
NM_000211.4(ITGB2):c.-107A>T
|
rs572346607
|
0.00281
|
NM_000260.4(MYO7A):c.905G>A (p.Arg302His)
|
rs41298135
|
0.00281
|
NM_017739.4(POMGNT1):c.1298C>T (p.Thr433Met)
|
rs146097254
|
0.00280
|
NM_153717.3(EVC):c.*2692G>T
|
rs149155153
|
0.00279
|
NM_207361.6(FREM2):c.9266A>G (p.His3089Arg)
|
rs76949956
|
0.00279
|
NM_000057.4(BLM):c.1928G>A (p.Arg643His)
|
rs12720097
|
0.00278
|
NM_003839.4(TNFRSF11A):c.*2077G>T
|
rs75853662
|
0.00278
|
NM_018136.5(ASPM):c.9444+8T>G
|
rs140150599
|
0.00278
|
NM_182961.4(SYNE1):c.4162C>T (p.Arg1388Trp)
|
rs34028822
|
0.00278
|
NM_001017420.3(ESCO2):c.1094G>A (p.Arg365Lys)
|
rs144288263
|
0.00277
|
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val)
|
rs55791823
|
0.00277
|
NM_006946.4(SPTBN2):c.5950-8G>A
|
rs201759431
|
0.00277
|
NM_052989.3(IFT122):c.3432C>T (p.Ile1144=)
|
rs149884307
|
0.00277
|
NM_000260.4(MYO7A):c.1854G>A (p.Leu618=)
|
rs35429535
|
0.00276
|
NM_001386140.1(MTTP):c.-6G>A
|
rs41275707
|
0.00276
|
NM_003193.5(TBCE):c.1400-14T>C
|
rs150827657
|
0.00276
|
NM_006721.4(ADK):c.*740C>T
|
rs150465356
|
0.00276
|
NM_182961.4(SYNE1):c.10281G>T (p.Thr3427=)
|
rs147402839
|
0.00276
|
NM_182961.4(SYNE1):c.2177A>G (p.Glu726Gly)
|
rs35297226
|
0.00276
|
NM_207361.6(FREM2):c.7335T>C (p.Gly2445=)
|
rs141921562
|
0.00276
|
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser)
|
rs187546086
|
0.00275
|
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser)
|
rs149758808
|
0.00275
|
NM_020631.6(PLEKHG5):c.88C>T (p.Arg30Cys)
|
rs111400494
|
0.00274
|
NM_182961.4(SYNE1):c.13863G>A (p.Thr4621=)
|
rs112266645
|
0.00274
|
NM_207361.6(FREM2):c.2128C>T (p.Arg710Cys)
|
rs41292753
|
0.00274
|
NM_001194998.2(CEP152):c.5115A>G (p.Pro1705=)
|
rs1048042
|
0.00273
|
NM_003619.4(PRSS12):c.523G>A (p.Gly175Ser)
|
rs145151396
|
0.00273
|
NM_016938.5(EFEMP2):c.368-11G>A
|
rs181514768
|
0.00272
|
NM_025074.7(FRAS1):c.11907C>G (p.His3969Gln)
|
rs140492803
|
0.00272
|
NM_001143985.1(BANF1):c.-297G>A
|
rs141605220
|
0.00271
|
NM_004153.4(ORC1):c.2226C>A (p.Ser742=)
|
rs34644009
|
0.00271
|
NM_000123.4(ERCC5):c.2778C>G (p.Gly926=)
|
rs9518857
|
0.00270
|
NM_000352.6(ABCC8):c.-8G>T
|
rs200091822
|
0.00270
|
NM_001127671.2(LIFR):c.*5125C>T
|
rs147202739
|
0.00270
|
NM_004415.4(DSP):c.4141A>T (p.Thr1381Ser)
|
rs77758574
|
0.00270
|
NM_015311.3(OBSL1):c.3816C>T (p.Pro1272=)
|
rs200349173
|
0.00270
|
NM_147127.5(EVC2):c.*207A>G
|
rs73072282
|
0.00270
|
NM_147127.5(EVC2):c.3659+8T>C
|
rs200119306
|
0.00270
|
NM_025074.7(FRAS1):c.4648C>T (p.Leu1550Phe)
|
rs148663672
|
0.00269
|
NM_182961.4(SYNE1):c.8400C>T (p.Leu2800=)
|
rs114747836
|
0.00268
|
NM_001023570.4(IQCB1):c.588T>C (p.Ser196=)
|
rs80015876
|
0.00267
|
NM_024649.5(BBS1):c.24T>C (p.Asp8=)
|
rs55848325
|
0.00267
|
NM_001386140.1(MTTP):c.1557+7T>A
|
rs142706742
|
0.00266
|
NM_002485.5(NBN):c.381T>C (p.Ala127=)
|
rs61754795
|
0.00266
|
NM_001098484.3(SLC4A4):c.*1228A>G
|
rs116277651
|
0.00265
|
NM_001378615.1(CC2D2A):c.4459C>T (p.Arg1487Cys)
|
rs186486235
|
0.00265
|
NM_004415.4(DSP):c.7995G>A (p.Thr2665=)
|
rs35379048
|
0.00265
|
NM_015102.5(NPHP4):c.1622C>T (p.Pro541Leu)
|
rs145255635
|
0.00265
|
NM_139319.3(SLC17A8):c.336T>C (p.Asp112=)
|
rs11568546
|
0.00265
|
NM_025074.7(FRAS1):c.11724T>C (p.Ser3908=)
|
rs151307846
|
0.00264
|
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg)
|
rs201342438
|
0.00263
|
NM_144596.4(TTC8):c.*93G>A
|
rs116740320
|
0.00263
|
NM_001017420.3(ESCO2):c.764T>C (p.Phe255Ser)
|
rs141631911
|
0.00262
|
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala)
|
rs77968867
|
0.00262
|
NM_012463.4(ATP6V0A2):c.*785T>C
|
rs146660715
|
0.00262
|
NM_017875.4(SLC25A38):c.*304C>T
|
rs113251543
|
0.00262
|
NM_033064.5(ATCAY):c.*3108C>T
|
rs143949702
|
0.00262
|
NM_005529.7(HSPG2):c.7511G>A (p.Arg2504His)
|
rs62642517
|
0.00261
|
NM_005708.5(GPC6):c.1341C>T (p.Pro447=)
|
rs140196319
|
0.00261
|
NM_001013693.3(LDLRAD2):c.*710C>T
|
rs146732517
|
0.00260
|
NM_004937.3(CTNS):c.462-7C>A
|
rs189632527
|
0.00259
|
NM_006846.4(SPINK5):c.1605G>T (p.Val535=)
|
rs201831966
|
0.00259
|
NM_001367624.2(ZNF469):c.869C>T (p.Ala290Val)
|
rs117501524
|
0.00258
|
NM_002230.4(JUP):c.1159-13C>A
|
rs201627219
|
0.00258
|
NM_012463.4(ATP6V0A2):c.1258G>T (p.Val420Leu)
|
rs138716143
|
0.00258
|
NM_138694.4(PKHD1):c.1950G>A (p.Arg650=)
|
rs143226202
|
0.00257
|
NM_015311.3(OBSL1):c.1734G>A (p.Pro578=)
|
rs181182663
|
0.00256
|
NM_004525.3(LRP2):c.-5C>T
|
rs373286009
|
0.00255
|
NM_006721.4(ADK):c.66-24106T>C
|
rs192064997
|
0.00255
|
NM_012414.4(RAB3GAP2):c.*1527G>C
|
rs185153185
|
0.00255
|
NM_015311.3(OBSL1):c.2238G>A (p.Pro746=)
|
rs142650279
|
0.00255
|
NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr)
|
rs114015043
|
0.00254
|
NM_001081.4(CUBN):c.2656G>A (p.Glu886Lys)
|
rs138545198
|
0.00253
|
NM_015294.6(TRIM37):c.2049C>T (p.Ala683=)
|
rs35871562
|
0.00253
|
NM_018136.5(ASPM):c.9996T>C (p.Thr3332=)
|
rs139927527
|
0.00253
|
NM_022098.4(XPNPEP3):c.*6179G>A
|
rs149909864
|
0.00253
|
NM_025074.7(FRAS1):c.4579C>T (p.Arg1527Trp)
|
rs1872267
|
0.00253
|
NM_001267550.2(TTN):c.69383C>A (p.Ser23128Tyr)
|
rs72646882
|
0.00252
|
NM_015474.4(SAMHD1):c.77C>T (p.Pro26Leu)
|
rs147240777
|
0.00252
|
NM_020779.4(WDR35):c.2964+12C>T
|
rs113663112
|
0.00252
|
NM_025074.7(FRAS1):c.2861C>T (p.Thr954Met)
|
rs17003166
|
0.00252
|
NM_025132.4(WDR19):c.-15G>T
|
rs150860929
|
0.00252
|
NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr)
|
rs55660660
|
0.00251
|
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly)
|
rs112089123
|
0.00250
|
NM_020247.5(COQ8A):c.384C>T (p.Ala128=)
|
rs139970507
|
0.00250
|
NM_022098.4(XPNPEP3):c.*4530C>T
|
rs190920816
|
0.00250
|
NM_000162.5(GCK):c.209-8G>A
|
rs144798843
|
0.00249
|
NM_000260.4(MYO7A):c.1554+8G>A
|
rs111033227
|
0.00249
|
NM_006005.3(WFS1):c.577A>C (p.Lys193Gln)
|
rs41264699
|
0.00249
|
NM_004525.3(LRP2):c.1973A>G (p.Tyr658Cys)
|
rs111360923
|
0.00248
|
NM_006005.3(WFS1):c.*288C>T
|
rs56072224
|
0.00248
|
NM_025132.4(WDR19):c.3183+9G>A
|
rs138318063
|
0.00248
|
NM_173477.5(USH1G):c.*776G>A
|
rs55847044
|
0.00248
|
NM_000162.5(GCK):c.*356G>A
|
rs146107173
|
0.00247
|
NM_002180.3(IGHMBP2):c.2091G>A (p.Pro697=)
|
rs113615425
|
0.00247
|
NM_004004.6(GJB2):c.457G>A (p.Val153Ile)
|
rs111033186
|
0.00247
|
NM_020631.6(PLEKHG5):c.928G>A (p.Asp310Asn)
|
rs61730399
|
0.00247
|
NM_004525.3(LRP2):c.2079C>T (p.Phe693=)
|
rs145709922
|
0.00246
|
NM_015665.5(AAAS):c.*32C>T
|
rs138994144
|
0.00246
|
NM_025132.4(WDR19):c.2142+12G>A
|
rs149621476
|
0.00246
|
NM_001127671.2(LIFR):c.2447A>G (p.Asp816Gly)
|
rs74856317
|
0.00245
|
NM_004086.3(COCH):c.1270T>G (p.Tyr424Asp)
|
rs61759484
|
0.00245
|
NM_015046.7(SETX):c.*168C>T
|
rs115351494
|
0.00245
|
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val)
|
rs140067659
|
0.00245
|
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser)
|
rs146197239
|
0.00244
|
NM_000211.5(ITGB2):c.147+9C>T
|
rs199948899
|
0.00243
|
NM_001081.4(CUBN):c.1470G>A (p.Pro490=)
|
rs143255616
|
0.00243
|
NM_001194998.2(CEP152):c.4744T>C (p.Ser1582Pro)
|
rs77745570
|
0.00243
|
NM_005529.7(HSPG2):c.10677C>T (p.Asn3559=)
|
rs138049720
|
0.00243
|
NM_005529.7(HSPG2):c.3945T>C (p.Ser1315=)
|
rs72866991
|
0.00243
|
NM_006432.5(NPC2):c.*9T>C
|
rs80216539
|
0.00243
|
NM_022098.4(XPNPEP3):c.*5445G>A
|
rs150740494
|
0.00243
|
NM_153717.3(EVC):c.532G>A (p.Val178Ile)
|
rs144897690
|
0.00243
|
NM_002292.4(LAMB2):c.109C>G (p.Pro37Ala)
|
rs144765752
|
0.00242
|
NM_004560.4(ROR2):c.372C>T (p.Asp124=)
|
rs145568368
|
0.00241
|
NM_025074.7(FRAS1):c.7033G>A (p.Glu2345Lys)
|
rs56291926
|
0.00241
|
NM_000557.5(GDF5):c.652A>C (p.Arg218=)
|
rs116467702
|
0.00240
|
NM_001127671.2(LIFR):c.*398C>G
|
rs138772371
|
0.00240
|
NM_001267550.2(TTN):c.26682G>A (p.Pro8894=)
|
rs142812510
|
0.00240
|
NM_025074.7(FRAS1):c.11718T>C (p.Ile3906=)
|
rs142389362
|
0.00240
|
NM_206933.4(USH2A):c.478G>A (p.Gly160Ser)
|
rs111033479
|
0.00240
|
NM_003839.4(TNFRSF11A):c.1348C>T (p.Arg450Trp)
|
rs34945627
|
0.00239
|
NM_005522.5(HOXA1):c.*907A>G
|
rs76826100
|
0.00239
|
NM_006005.3(WFS1):c.2356G>A (p.Gly786Ser)
|
rs71578980
|
0.00239
|
NM_207361.6(FREM2):c.*1050G>A
|
rs146348438
|
0.00239
|
NM_000557.5(GDF5):c.*520T>C
|
rs188252641
|
0.00238
|
NM_018319.4(TDP1):c.*599G>C
|
rs184066284
|
0.00238
|
NM_005529.7(HSPG2):c.10110G>A (p.Lys3370=)
|
rs141963344
|
0.00237
|
NM_000557.5(GDF5):c.462C>A (p.Pro154=)
|
rs150686636
|
0.00236
|
NM_025074.7(FRAS1):c.11605A>G (p.Ile3869Val)
|
rs145035489
|
0.00236
|
NM_000162.5(GCK):c.333C>T (p.Pro111=)
|
rs61736250
|
0.00235
|
NM_000211.5(ITGB2):c.807C>T (p.Phe269=)
|
rs142381225
|
0.00235
|
NM_002292.4(LAMB2):c.2307C>T (p.Leu769=)
|
rs147076626
|
0.00235
|
NM_024753.5(TTC21B):c.1846C>T (p.Arg616Cys)
|
rs139441507
|
0.00235
|
NM_000124.4(ERCC6):c.2403C>T (p.Ala801=)
|
rs114896216
|
0.00234
|
NM_000057.4(BLM):c.4077-10C>T
|
rs145310008
|
0.00233
|
NM_000334.4(SCN4A):c.*1828A>G
|
rs79003915
|
0.00233
|
NM_020779.4(WDR35):c.1591C>G (p.Leu531Val)
|
rs148242353
|
0.00233
|
NM_022098.4(XPNPEP3):c.*1531A>G
|
rs145932052
|
0.00233
|
NM_000211.5(ITGB2):c.1172C>T (p.Thr391Met)
|
rs141201564
|
0.00232
|
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile)
|
rs41280110
|
0.00232
|
NM_025074.7(FRAS1):c.10594A>G (p.Ile3532Val)
|
rs144715071
|
0.00232
|
NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val)
|
rs142062146
|
0.00231
|
NM_002473.6(MYH9):c.7C>G (p.Gln3Glu)
|
rs56200894
|
0.00231
|
NM_016042.4(EXOSC3):c.193G>A (p.Val65Ile)
|
rs62640002
|
0.00231
|
NM_016219.5(MAN1B1):c.744T>C (p.Tyr248=)
|
rs138435910
|
0.00230
|
NM_006118.4(HAX1):c.207A>T (p.Pro69=)
|
rs142150013
|
0.00228
|
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser)
|
rs201733037
|
0.00228
|
NM_001145809.2(MYH14):c.1329+15C>T
|
rs200176028
|
0.00227
|
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg)
|
rs142938748
|
0.00227
|
NM_004525.3(LRP2):c.*18G>A
|
rs141693983
|
0.00226
|
NM_022124.6(CDH23):c.4068C>G (p.Thr1356=)
|
rs143136329
|
0.00226
|
NM_000208.4(INSR):c.*1171C>T
|
rs188386673
|
0.00225
|
NM_000784.4(CYP27A1):c.243G>A (p.Leu81=)
|
rs75897848
|
0.00225
|
NM_000211.5(ITGB2):c.1635C>T (p.Asn545=)
|
rs61747606
|
0.00224
|
NM_022098.4(XPNPEP3):c.*5547C>G
|
rs191415641
|
0.00224
|
NM_148919.4(PSMB8):c.501C>T (p.Leu167=)
|
rs11540143
|
0.00224
|
NM_000466.3(PEX1):c.934A>G (p.Ile312Val)
|
rs146312634
|
0.00223
|
NM_003383.5(VLDLR):c.2291C>T (p.Thr764Met)
|
rs56737058
|
0.00223
|
NM_016938.5(EFEMP2):c.368-4G>A
|
rs111550973
|
0.00223
|
NM_018718.3(CEP41):c.1009T>C (p.Ser337Pro)
|
rs147444165
|
0.00223
|
NM_021830.5(TWNK):c.*419A>T
|
rs187553791
|
0.00223
|
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala)
|
rs147222255
|
0.00223
|
NM_001367624.2(ZNF469):c.2803G>A (p.Glu935Lys)
|
rs117995699
|
0.00222
|
NM_022464.5(SIL1):c.1351G>A (p.Gly451Ser)
|
rs34214251
|
0.00222
|
NM_001044385.3(TMEM237):c.136+8G>A
|
rs200618675
|
0.00220
|
NM_014028.4(OSTM1):c.615+8A>G
|
rs144204437
|
0.00220
|
NM_152618.3(BBS12):c.212A>G (p.Asn71Ser)
|
rs143960329
|
0.00220
|
NM_001145809.2(MYH14):c.*301C>T
|
rs529409417
|
0.00218
|
NM_001145809.2(MYH14):c.5227C>T (p.Leu1743=)
|
rs147447646
|
0.00218
|
NM_004525.3(LRP2):c.11663G>A (p.Arg3888His)
|
rs77686710
|
0.00218
|
NM_001081.4(CUBN):c.2182T>C (p.Phe728Leu)
|
rs147752521
|
0.00217
|
NM_004525.3(LRP2):c.12379C>A (p.Arg4127Ser)
|
rs148356370
|
0.00217
|
NM_005529.7(HSPG2):c.11937C>T (p.Phe3979=)
|
rs143431746
|
0.00217
|
NM_145861.4(EDARADD):c.*1438C>T
|
rs201710490
|
0.00217
|
NM_182961.4(SYNE1):c.8230C>A (p.Gln2744Lys)
|
rs145195048
|
0.00217
|
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys)
|
rs72646861
|
0.00216
|
NM_206933.4(USH2A):c.3395G>A (p.Gly1132Asp)
|
rs34596189
|
0.00216
|
NM_001083961.2(WDR62):c.4312-5T>G
|
rs182467995
|
0.00215
|
NM_001194998.2(CEP152):c.1180A>G (p.Ile394Val)
|
rs181295720
|
0.00215
|
NM_006397.3(RNASEH2A):c.*123G>A
|
rs533069935
|
0.00215
|
NM_004415.4(DSP):c.2596C>T (p.Arg866Cys)
|
rs142429411
|
0.00214
|
NM_000414.4(HSD17B4):c.715-13C>T
|
rs185869017
|
0.00213
|
NM_018699.4(PRDM5):c.1283-5C>T
|
rs185134294
|
0.00213
|
NM_024753.5(TTC21B):c.*1087A>T
|
rs150328867
|
0.00213
|
NM_001081.4(CUBN):c.1530+12A>C
|
rs138936163
|
0.00212
|
NM_003619.4(PRSS12):c.440C>T (p.Pro147Leu)
|
rs72903215
|
0.00212
|
NM_052989.3(IFT122):c.2294A>C (p.Lys765Thr)
|
rs146026277
|
0.00212
|
NM_005529.7(HSPG2):c.3889-10G>A
|
rs147334960
|
0.00211
|
NM_001692.4(ATP6V1B1):c.-17C>T
|
rs202030952
|
0.00210
|
NM_015311.3(OBSL1):c.4477G>A (p.Asp1493Asn)
|
rs201032988
|
0.00210
|
NM_021628.3(ALOXE3):c.*392G>A
|
rs188419202
|
0.00210
|
NM_025074.7(FRAS1):c.201A>G (p.Gln67=)
|
rs117876433
|
0.00210
|
NM_016042.4(EXOSC3):c.*64C>T
|
rs142727320
|
0.00209
|
NM_020631.6(PLEKHG5):c.307G>A (p.Val103Met)
|
rs141032388
|
0.00209
|
NM_153717.3(EVC):c.1636A>G (p.Met546Val)
|
rs112608085
|
0.00209
|
NM_001044385.3(TMEM237):c.*439G>A
|
rs139374574
|
0.00208
|
NM_001127649.3(PEX26):c.*279G>A
|
rs147096782
|
0.00208
|
NM_001044385.3(TMEM237):c.*634C>T
|
rs139016907
|
0.00207
|
NM_005219.5(DIAPH1):c.1985G>A (p.Gly662Asp)
|
rs200735096
|
0.00207
|
NM_005529.7(HSPG2):c.7191G>A (p.Ala2397=)
|
rs2290499
|
0.00206
|
NM_006721.4(ADK):c.*375A>G
|
rs185021662
|
0.00206
|
NM_012414.4(RAB3GAP2):c.3966A>G (p.Lys1322=)
|
rs150226729
|
0.00206
|
NM_032193.4(RNASEH2C):c.*542G>A
|
rs186106053
|
0.00206
|
NM_052989.3(IFT122):c.3129C>T (p.Arg1043=)
|
rs76881473
|
0.00206
|
NM_004525.3(LRP2):c.10170-15T>G
|
rs144579935
|
0.00205
|
NM_147127.5(EVC2):c.2883A>C (p.Gly961=)
|
rs149188988
|
0.00205
|
NM_001128178.3(NPHP1):c.771+59G>A
|
rs143174377
|
0.00203
|
NM_001194998.2(CEP152):c.4072C>G (p.Gln1358Glu)
|
rs149478199
|
0.00203
|
NM_006946.4(SPTBN2):c.6896+11G>A
|
rs141969559
|
0.00203
|
NM_147127.5(EVC2):c.1462G>A (p.Gly488Ser)
|
rs145277501
|
0.00203
|
NM_000124.4(ERCC6):c.*118A>C
|
rs4253233
|
0.00201
|
NM_004525.3(LRP2):c.13685T>C (p.Val4562Ala)
|
rs142245618
|
0.00201
|
NM_020779.4(WDR35):c.1524+11C>A
|
rs200213874
|
0.00201
|
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His)
|
rs183885357
|
0.00200
|
NM_203486.3(DLL3):c.390G>A (p.Glu130=)
|
rs113780398
|
0.00200
|
NM_000414.4(HSD17B4):c.*83T>G
|
rs181310520
|
0.00199
|
NM_001814.6(CTSC):c.1146C>T (p.His382=)
|
rs45558734
|
0.00199
|
NM_020779.4(WDR35):c.3121+3G>A
|
rs200042577
|
0.00199
|
NM_002473.6(MYH9):c.5143G>A (p.Gly1715Ser)
|
rs148109368
|
0.00198
|
NM_004086.3(COCH):c.*814G>A
|
rs543797568
|
0.00198
|
NM_000260.4(MYO7A):c.3750+9G>A
|
rs111033252
|
0.00197
|
NM_004153.4(ORC1):c.403-7A>C
|
rs199834691
|
0.00197
|
NM_004415.4(DSP):c.4383G>A (p.Glu1461=)
|
rs140029036
|
0.00197
|
NM_004415.4(DSP):c.4588G>T (p.Val1530Phe)
|
rs141227126
|
0.00197
|
NM_004813.4(PEX16):c.*10C>T
|
rs201127195
|
0.00197
|
NM_006005.3(WFS1):c.227G>T (p.Gly76Val)
|
rs200135768
|
0.00197
|
NM_015474.3(SAMHD1):c.-166G>T
|
rs546207604
|
0.00197
|
NM_022098.4(XPNPEP3):c.*531T>G
|
rs564294482
|
0.00197
|
NM_000123.4(ERCC5):c.3177C>T (p.Gly1059=)
|
rs148856875
|
0.00196
|
NM_002473.6(MYH9):c.4396C>T (p.Arg1466Trp)
|
rs139134727
|
0.00195
|
NM_004415.4(DSP):c.1488G>A (p.Thr496=)
|
rs35820473
|
0.00195
|
NM_004525.3(LRP2):c.12380G>A (p.Arg4127His)
|
rs142934522
|
0.00195
|
NM_004525.3(LRP2):c.2513+14T>C
|
rs201785482
|
0.00195
|
NM_005529.7(HSPG2):c.9327C>T (p.His3109=)
|
rs61743674
|
0.00195
|
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=)
|
rs61742381
|
0.00195
|
NM_182961.4(SYNE1):c.19508A>G (p.Asn6503Ser)
|
rs144762960
|
0.00195
|
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=)
|
rs142381345
|
0.00194
|
NM_014425.5(INVS):c.-17C>T
|
rs181463817
|
0.00194
|
NM_024649.5(BBS1):c.1719A>G (p.Gln573=)
|
rs150553044
|
0.00194
|
NM_153717.3(EVC):c.550G>A (p.Asp184Asn)
|
rs41269549
|
0.00194
|
NM_182961.4(SYNE1):c.23461-6A>C
|
rs145098375
|
0.00194
|
NM_207361.6(FREM2):c.84C>G (p.Pro28=)
|
rs141718695
|
0.00194
|
NM_004153.4(ORC1):c.402+12C>T
|
rs138085865
|
0.00193
|
NM_004407.4(DMP1):c.639G>A (p.Glu213=)
|
rs116732769
|
0.00193
|
NM_000782.5(CYP24A1):c.604G>C (p.Asp202His)
|
rs114579367
|
0.00192
|
NM_001145809.2(MYH14):c.*368C>G
|
rs74582015
|
0.00192
|
NM_001254.4(CDC6):c.712A>G (p.Thr238Ala)
|
rs4135010
|
0.00192
|
NM_000124.4(ERCC6):c.3481A>C (p.Ser1161Arg)
|
rs142094044
|
0.00191
|
NM_000124.4(ERCC6):c.3482G>C (p.Ser1161Thr)
|
rs148636026
|
0.00191
|
NM_000506.5(F2):c.1298+11G>C
|
rs144587241
|
0.00191
|
NM_182961.4(SYNE1):c.4596C>T (p.Tyr1532=)
|
rs138264334
|
0.00191
|
NM_000124.4(ERCC6):c.1274A>C (p.Asp425Ala)
|
rs4253046
|
0.00188
|
NM_000288.4(PEX7):c.*38G>A
|
rs41288965
|
0.00188
|
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln)
|
rs140621959
|
0.00188
|
NM_005529.7(HSPG2):c.8044C>T (p.Arg2682Trp)
|
rs142458572
|
0.00188
|
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys)
|
rs141859946
|
0.00188
|
NM_001139.3(ALOX12B):c.324C>T (p.Tyr108=)
|
rs116399915
|
0.00187
|
NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val)
|
rs35193202
|
0.00187
|
NM_018965.4(TREM2):c.469C>T (p.His157Tyr)
|
rs2234255
|
0.00187
|
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys)
|
rs139998038
|
0.00187
|
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His)
|
rs183655276
|
0.00187
|
NM_000208.4(INSR):c.*4760G>A
|
rs574836227
|
0.00186
|
NM_005529.7(HSPG2):c.355-14G>C
|
rs372356869
|
0.00185
|
NM_006005.3(WFS1):c.2596G>A (p.Asp866Asn)
|
rs3821945
|
0.00185
|
NM_001374623.1(PNPLA1):c.537G>A (p.Gln179=)
|
rs147389149
|
0.00184
|
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly)
|
rs55999987
|
0.00184
|
NM_052989.3(IFT122):c.617T>C (p.Ile206Thr)
|
rs59912693
|
0.00184
|
NM_000208.4(INSR):c.1080C>T (p.Cys360=)
|
rs56066516
|
0.00183
|
NM_001083961.2(WDR62):c.4338C>T (p.Thr1446=)
|
rs149289227
|
0.00183
|
NM_004525.3(LRP2):c.10233C>T (p.Phe3411=)
|
rs139363553
|
0.00183
|
NM_006005.3(WFS1):c.1530C>T (p.Tyr510=)
|
rs35789242
|
0.00183
|
NM_001081.4(CUBN):c.1681G>A (p.Asp561Asn)
|
rs147449194
|
0.00181
|
NM_001128178.3(NPHP1):c.1270-4C>T
|
rs151204566
|
0.00181
|
NM_001254.4(CDC6):c.*358G>T
|
rs575274633
|
0.00181
|
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys)
|
rs61760163
|
0.00179
|
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)
|
rs139007661
|
0.00179
|
NM_005422.4(TECTA):c.701A>G (p.Gln234Arg)
|
rs144682235
|
0.00179
|
NM_006208.3(ENPP1):c.2757A>T (p.Pro919=)
|
rs73541508
|
0.00178
|
NM_032119.4(ADGRV1):c.14515C>G (p.Gln4839Glu)
|
rs79464236
|
0.00178
|
NM_032193.4(RNASEH2C):c.468+13G>A
|
rs182000627
|
0.00178
|
NM_001184.4(ATR):c.2844A>C (p.Ala948=)
|
rs147286949
|
0.00177
|
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met)
|
rs142433309
|
0.00177
|
NM_014425.5(INVS):c.3017-5T>G
|
rs201018893
|
0.00177
|
NM_001386140.1(MTTP):c.2513+13G>A
|
rs148073215
|
0.00176
|
NM_004086.3(COCH):c.841G>A (p.Asp281Asn)
|
rs28362775
|
0.00176
|
NM_002292.4(LAMB2):c.3875A>T (p.Asn1292Ile)
|
rs148246465
|
0.00175
|
NM_148919.4(PSMB8):c.732C>T (p.Gly244=)
|
rs78909544
|
0.00175
|
NM_012414.4(RAB3GAP2):c.4060A>G (p.Ile1354Val)
|
rs59190330
|
0.00174
|
NM_002292.4(LAMB2):c.5166A>G (p.Gln1722=)
|
rs114485284
|
0.00173
|
NM_004560.4(ROR2):c.2395C>T (p.Pro799Ser)
|
rs141235720
|
0.00173
|
NM_015046.7(SETX):c.3310C>G (p.Gln1104Glu)
|
rs113831637
|
0.00173
|
NM_144508.5(KNL1):c.5271C>T (p.Cys1757=)
|
rs191249840
|
0.00173
|
NM_000260.4(MYO7A):c.*38G>A
|
rs149296177
|
0.00172
|
NM_015102.5(NPHP4):c.3574C>T (p.Arg1192Trp)
|
rs139022622
|
0.00172
|
NM_016219.5(MAN1B1):c.403G>A (p.Val135Ile)
|
rs75442795
|
0.00172
|
NM_005422.4(TECTA):c.2061C>G (p.Asn687Lys)
|
rs139165033
|
0.00171
|
NM_153717.3(EVC):c.934G>A (p.Asp312Asn)
|
rs115275195
|
0.00171
|
NM_004525.3(LRP2):c.3122A>G (p.Asn1041Ser)
|
rs143028579
|
0.00170
|
NM_016219.5(MAN1B1):c.*393A>G
|
rs575316488
|
0.00170
|
NM_025074.7(FRAS1):c.7622A>G (p.Asn2541Ser)
|
rs144530996
|
0.00170
|
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys)
|
rs117985576
|
0.00169
|
NM_001081.4(CUBN):c.8968G>A (p.Val2990Ile)
|
rs115888073
|
0.00169
|
NM_018319.4(TDP1):c.*1618T>C
|
rs35308003
|
0.00169
|
NM_182961.4(SYNE1):c.25091C>T (p.Pro8364Leu)
|
rs148376885
|
0.00169
|
NM_001366722.1(GRIP1):c.2283G>A (p.Ser761=)
|
rs200863167
|
0.00168
|
NM_020779.4(WDR35):c.2066G>A (p.Arg689His)
|
rs74470618
|
0.00168
|
NM_002292.4(LAMB2):c.510C>T (p.Arg170=)
|
rs149856537
|
0.00167
|
NM_002180.3(IGHMBP2):c.*175T>C
|
rs189725711
|
0.00166
|
NM_182961.4(SYNE1):c.7976C>A (p.Thr2659Asn)
|
rs117480635
|
0.00166
|
NM_002473.6(MYH9):c.4952T>C (p.Met1651Thr)
|
rs142094977
|
0.00165
|
NM_005219.5(DIAPH1):c.*1322C>G
|
rs530260919
|
0.00165
|
NM_025132.4(WDR19):c.2361C>T (p.Phe787=)
|
rs200133722
|
0.00165
|
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)
|
rs45629132
|
0.00164
|
NM_003701.4(TNFSF11):c.214G>A (p.Ala72Thr)
|
rs142756983
|
0.00164
|
NM_004525.3(LRP2):c.4351G>T (p.Val1451Phe)
|
rs146289506
|
0.00164
|
NM_005219.5(DIAPH1):c.*1637G>C
|
rs531768148
|
0.00164
|
NM_015046.7(SETX):c.*2506T>C
|
rs73545065
|
0.00164
|
NM_015046.7(SETX):c.*905A>G
|
rs58327306
|
0.00164
|
NM_001127453.2(GSDME):c.*321T>G
|
rs573722628
|
0.00163
|
NM_001814.6(CTSC):c.-45C>G
|
rs181685520
|
0.00163
|
NM_182961.4(SYNE1):c.23002C>G (p.Leu7668Val)
|
rs150589796
|
0.00163
|
NM_001039958.2(MESP2):c.908T>C (p.Leu303Pro)
|
rs185706635
|
0.00162
|
NM_001127453.2(GSDME):c.*72C>T
|
rs115865539
|
0.00162
|
NM_001143992.2(WRAP53):c.1566G>A (p.Ala522=)
|
rs148329158
|
0.00162
|
NM_006019.4(TCIRG1):c.630+14G>A
|
rs201531306
|
0.00161
|
NM_006208.3(ENPP1):c.*3528C>T
|
rs557822175
|
0.00161
|
NM_024753.5(TTC21B):c.2600G>A (p.Arg867His)
|
rs76726265
|
0.00161
|
NM_017755.6(NSUN2):c.*17G>A
|
rs201903423
|
0.00160
|
NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr)
|
rs77959215
|
0.00160
|
NM_001081.4(CUBN):c.4200C>T (p.Gly1400=)
|
rs150663813
|
0.00159
|
NM_001134831.2(AHI1):c.3164C>T (p.Thr1055Met)
|
rs73559947
|
0.00159
|
NM_002292.4(LAMB2):c.4163G>A (p.Arg1388Gln)
|
rs146522641
|
0.00159
|
NM_017755.6(NSUN2):c.222C>T (p.Leu74=)
|
rs138716662
|
0.00159
|
NM_018718.3(CEP41):c.*4594C>T
|
rs151309255
|
0.00159
|
NM_024685.4(BBS10):c.1736A>G (p.Lys579Arg)
|
rs141521925
|
0.00159
|
NM_025074.7(FRAS1):c.7029+7G>A
|
rs183687186
|
0.00159
|
NM_032193.4(RNASEH2C):c.468G>T (p.Ala156=)
|
rs61736590
|
0.00159
|
NM_004004.6(GJB2):c.*1016A>G
|
rs537683957
|
0.00158
|
NM_012414.4(RAB3GAP2):c.*645C>T
|
rs188031183
|
0.00158
|
NM_014425.5(INVS):c.2193C>T (p.Gly731=)
|
rs148758887
|
0.00158
|
NM_020779.4(WDR35):c.*1681A>G
|
rs188310451
|
0.00158
|
NM_021252.5(RAB18):c.*254A>G
|
rs75899834
|
0.00158
|
NM_002180.3(IGHMBP2):c.2545G>A (p.Ala849Thr)
|
rs2228208
|
0.00157
|
NM_015272.5(RPGRIP1L):c.2643T>A (p.Asn881Lys)
|
rs139503476
|
0.00157
|
NM_002473.6(MYH9):c.5818G>A (p.Gly1940Arg)
|
rs140588099
|
0.00156
|
NM_004560.4(ROR2):c.1589G>A (p.Arg530Gln)
|
rs35852786
|
0.00156
|
NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val)
|
rs141640975
|
0.00155
|
NM_001366722.1(GRIP1):c.2381T>G (p.Met794Arg)
|
rs144494437
|
0.00155
|
NM_004004.6(GJB2):c.*3C>A
|
rs111033460
|
0.00155
|
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met)
|
rs3219496
|
0.00154
|
NM_001098484.3(SLC4A4):c.807+13T>G
|
rs116455604
|
0.00154
|
NM_004525.3(LRP2):c.9147C>T (p.Phe3049=)
|
rs146115458
|
0.00154
|
NM_004525.3(LRP2):c.*530C>T
|
rs115478975
|
0.00153
|
NM_020247.5(COQ8A):c.298G>T (p.Asp100Tyr)
|
rs150696959
|
0.00153
|
NM_020632.3(ATP6V0A4):c.1573-3C>T
|
rs182512951
|
0.00153
|
NM_203486.3(DLL3):c.618C>T (p.Pro206=)
|
rs192624990
|
0.00153
|
NM_016239.4(MYO15A):c.10573A>G (p.Ser3525Gly)
|
rs182332665
|
0.00151
|
NM_004004.6(GJB2):c.249C>G (p.Phe83Leu)
|
rs111033218
|
0.00150
|
NM_001384140.1(PCDH15):c.3018G>T (p.Val1006=)
|
rs41307518
|
0.00149
|
NM_004086.3(COCH):c.*625T>C
|
rs143467211
|
0.00149
|
NM_012414.4(RAB3GAP2):c.39C>T (p.Asp13=)
|
rs145667920
|
0.00149
|
NM_001366722.1(GRIP1):c.1645A>G (p.Ile549Val)
|
rs201867922
|
0.00148
|
NM_016219.5(MAN1B1):c.1980C>T (p.Phe660=)
|
rs140496149
|
0.00148
|
NM_018451.5(CENPJ):c.646T>C (p.Cys216Arg)
|
rs143260721
|
0.00148
|
NM_022464.5(SIL1):c.1030-14G>A
|
rs184154914
|
0.00148
|
NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His)
|
rs182139018
|
0.00147
|
NM_015102.5(NPHP4):c.2519G>A (p.Ser840Asn)
|
rs147588666
|
0.00147
|
NM_012233.3(RAB3GAP1):c.1307C>T (p.Pro436Leu)
|
rs75269203
|
0.00146
|
NM_020779.4(WDR35):c.*601A>G
|
rs182037850
|
0.00146
|
NM_000288.4(PEX7):c.*272A>G
|
rs186705952
|
0.00145
|
NM_001267550.2(TTN):c.23232C>G (p.Asn7744Lys)
|
rs72648972
|
0.00145
|
NM_006846.4(SPINK5):c.2795G>A (p.Arg932Lys)
|
rs201942775
|
0.00145
|
NM_015311.3(OBSL1):c.1912G>A (p.Asp638Asn)
|
rs150250100
|
0.00145
|
NM_020779.4(WDR35):c.1248T>G (p.Ile416Met)
|
rs144701688
|
0.00145
|
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu)
|
rs142526715
|
0.00145
|
NM_006019.4(TCIRG1):c.482C>T (p.Pro161Leu)
|
rs34227834
|
0.00144
|
NM_194248.3(OTOF):c.5026C>T (p.Arg1676Cys)
|
rs139767460
|
0.00144
|
NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser)
|
rs200992277
|
0.00143
|
NM_004004.6(GJB2):c.380G>A (p.Arg127His)
|
rs111033196
|
0.00143
|
NM_004086.3(COCH):c.1204A>G (p.Ile402Val)
|
rs28362778
|
0.00143
|
NM_004415.4(DSP):c.2773C>T (p.Arg925Trp)
|
rs145933612
|
0.00143
|
NM_014028.4(OSTM1):c.*2366A>G
|
rs564822548
|
0.00143
|
NM_020247.5(COQ8A):c.*230G>A
|
rs117808661
|
0.00143
|
NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met)
|
rs55698015
|
0.00142
|
NM_003383.5(VLDLR):c.902G>A (p.Arg301Gln)
|
rs139671268
|
0.00141
|
NM_144508.5(KNL1):c.4170T>A (p.Asp1390Glu)
|
rs141726041
|
0.00141
|
NM_014425.5(INVS):c.913G>A (p.Val305Ile)
|
rs116438342
|
0.00140
|
NM_015294.6(TRIM37):c.1919G>A (p.Arg640His)
|
rs112762655
|
0.00140
|
NM_018451.5(CENPJ):c.656C>T (p.Pro219Leu)
|
rs139844197
|
0.00140
|
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr)
|
rs76249490
|
0.00140
|
NM_002473.6(MYH9):c.705+14C>T
|
rs142552338
|
0.00139
|
NM_000260.4(MYO7A):c.510G>A (p.Leu170=)
|
rs34477144
|
0.00138
|
NM_001083961.2(WDR62):c.1359C>T (p.Asn453=)
|
rs148667984
|
0.00138
|
NM_004560.4(ROR2):c.*927C>T
|
rs150568265
|
0.00138
|
NM_005422.4(TECTA):c.3492C>T (p.Thr1164=)
|
rs144012985
|
0.00138
|
NM_020661.4(AICDA):c.299G>C (p.Gly100Ala)
|
rs201210527
|
0.00138
|
NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln)
|
rs145720191
|
0.00137
|
NM_004100.5(EYA4):c.783G>A (p.Thr261=)
|
rs17854076
|
0.00136
|
NM_003193.5(TBCE):c.191C>T (p.Pro64Leu)
|
rs147489278
|
0.00135
|
NM_000208.4(INSR):c.2736G>A (p.Arg912=)
|
rs147125937
|
0.00134
|
NM_001145809.2(MYH14):c.4094G>A (p.Ser1365Asn)
|
rs202225655
|
0.00134
|
NM_002473.6(MYH9):c.5323A>G (p.Lys1775Glu)
|
rs145139708
|
0.00134
|
NM_014363.6(SACS):c.2983G>T (p.Val995Phe)
|
rs142967124
|
0.00134
|
NM_017433.5(MYO3A):c.4462A>G (p.Lys1488Glu)
|
rs34204285
|
0.00134
|
NM_207361.6(FREM2):c.595G>T (p.Ala199Ser)
|
rs151296346
|
0.00134
|
NM_000057.4(BLM):c.*77T>A
|
rs116293756
|
0.00133
|
NM_000260.4(MYO7A):c.-211A>G
|
rs41298129
|
0.00133
|
NM_005422.4(TECTA):c.2418G>A (p.Leu806=)
|
rs138185038
|
0.00133
|
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=)
|
rs201838492
|
0.00133
|
NM_032119.4(ADGRV1):c.3303A>G (p.Val1101=)
|
rs80069610
|
0.00133
|
NM_006946.4(SPTBN2):c.1807+13C>T
|
rs151122248
|
0.00132
|
NM_000082.4(ERCC8):c.655G>C (p.Ala219Pro)
|
rs150727525
|
0.00131
|
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly)
|
rs28763965
|
0.00131
|
NM_020661.4(AICDA):c.427+4C>T
|
rs201180477
|
0.00130
|
NM_032193.4(RNASEH2C):c.*1017G>A
|
rs4645938
|
0.00130
|
NM_001267550.2(TTN):c.1137A>G (p.Arg379=)
|
rs55972547
|
0.00129
|
NM_001267550.2(TTN):c.1938+10G>C
|
rs190935632
|
0.00129
|
NM_003630.3(PEX3):c.*391G>A
|
rs140007169
|
0.00129
|
NM_004525.3(LRP2):c.12287T>C (p.Ile4096Thr)
|
rs137922929
|
0.00129
|
NM_000163.5(GHR):c.*1936T>C
|
rs144506757
|
0.00128
|
NM_000352.6(ABCC8):c.1332+4del
|
rs587783164
|
0.00128
|
NM_004086.3(COCH):c.*245G>A
|
rs45624239
|
0.00127
|
NM_005982.4(SIX1):c.-184A>C
|
rs187402923
|
0.00127
|
NM_000287.4(PEX6):c.1480-5C>T
|
rs376473597
|
0.00126
|
NM_004525.3(LRP2):c.5209C>T (p.Leu1737Phe)
|
rs149469954
|
0.00126
|
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg)
|
rs116046810
|
0.00126
|
NM_001267550.2(TTN):c.426C>T (p.Ala142=)
|
rs56137037
|
0.00125
|
NM_016042.4(EXOSC3):c.151C>G (p.Arg51Gly)
|
rs114878910
|
0.00125
|
NM_025074.7(FRAS1):c.*2324G>A
|
rs186095111
|
0.00125
|
NM_000162.5(GCK):c.208+11G>A
|
rs77440690
|
0.00124
|
NM_018451.5(CENPJ):c.*556A>C
|
rs188324716
|
0.00124
|
NM_138387.4(G6PC3):c.187A>C (p.Ile63Leu)
|
rs34878178
|
0.00124
|
NM_000271.5(NPC1):c.*68G>A
|
rs139720390
|
0.00123
|
NM_001267550.2(TTN):c.34453+12C>A
|
rs74930148
|
0.00123
|
NM_002473.6(MYH9):c.4198C>T (p.Arg1400Trp)
|
rs76368635
|
0.00123
|
NM_004525.3(LRP2):c.13921A>T (p.Thr4641Ser)
|
rs79179577
|
0.00123
|
NM_005219.5(DIAPH1):c.1423G>A (p.Glu475Lys)
|
rs193036129
|
0.00123
|
NM_005422.4(TECTA):c.4720A>G (p.Ile1574Val)
|
rs147354818
|
0.00123
|
NM_006005.3(WFS1):c.2052G>A (p.Ala684=)
|
rs71539668
|
0.00123
|
NM_032119.4(ADGRV1):c.6608T>C (p.Val2203Ala)
|
rs200055351
|
0.00123
|
NM_170707.4(LMNA):c.1566C>T (p.Cys522=)
|
rs149339264
|
0.00123
|
NM_000260.4(MYO7A):c.4845C>A (p.Pro1615=)
|
rs61900036
|
0.00122
|
NM_003193.5(TBCE):c.281G>A (p.Gly94Glu)
|
rs148616786
|
0.00122
|
NM_015404.4(WHRN):c.668G>A (p.Arg223His)
|
rs146273185
|
0.00122
|
NM_025074.7(FRAS1):c.4815G>A (p.Ala1605=)
|
rs201188262
|
0.00122
|
NM_000260.4(MYO7A):c.4805G>A (p.Arg1602Gln)
|
rs139889944
|
0.00121
|
NM_000352.6(ABCC8):c.3975C>T (p.Tyr1325=)
|
rs138141427
|
0.00121
|
NM_002473.6(MYH9):c.1176G>A (p.Pro392=)
|
rs143316848
|
0.00121
|
NM_003193.5(TBCE):c.1397C>T (p.Pro466Leu)
|
rs114972093
|
0.00121
|
NM_018136.5(ASPM):c.-114C>A
|
rs78280885
|
0.00121
|
NM_001184.4(ATR):c.992A>G (p.Asp331Gly)
|
rs150008448
|
0.00120
|
NM_003193.5(TBCE):c.585C>T (p.Ser195=)
|
rs139440109
|
0.00120
|
NM_006642.5(SDCCAG8):c.279G>A (p.Pro93=)
|
rs145877279
|
0.00120
|
NM_015404.4(WHRN):c.1352G>A (p.Gly451Asp)
|
rs117352600
|
0.00120
|
NM_002473.6(MYH9):c.1158C>T (p.Thr386=)
|
rs138502859
|
0.00119
|
NM_018136.5(ASPM):c.1732G>A (p.Asp578Asn)
|
rs60950503
|
0.00119
|
NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter)
|
rs11574410
|
0.00118
|
NM_001267550.2(TTN):c.21779C>A (p.Ser7260Tyr)
|
rs187925021
|
0.00118
|
NM_016239.4(MYO15A):c.7908C>T (p.Ala2636=)
|
rs201535856
|
0.00118
|
NM_018136.5(ASPM):c.-177G>A
|
rs80055790
|
0.00118
|
NM_207361.6(FREM2):c.9038C>T (p.Thr3013Met)
|
rs114400765
|
0.00118
|
NM_006208.3(ENPP1):c.*1307T>G
|
rs189263683
|
0.00117
|
NM_000123.4(ERCC5):c.3356C>T (p.Ala1119Val)
|
rs2227871
|
0.00116
|
NM_006208.3(ENPP1):c.*4015G>A
|
rs531152298
|
0.00116
|
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly)
|
rs148000791
|
0.00115
|
NM_003383.5(VLDLR):c.242A>G (p.Asn81Ser)
|
rs140526335
|
0.00115
|
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=)
|
rs138968178
|
0.00114
|
NM_002473.6(MYH9):c.705+11C>T
|
rs201738304
|
0.00114
|
NM_153717.3(EVC):c.*2493A>G
|
rs188345323
|
0.00114
|
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met)
|
rs146344855
|
0.00113
|
NM_001013693.3(LDLRAD2):c.*508G>A
|
rs575020789
|
0.00113
|
NM_001267550.2(TTN):c.34566A>C (p.Glu11522Asp)
|
rs140640738
|
0.00113
|
NM_001267550.2(TTN):c.90536G>A (p.Arg30179His)
|
rs149567378
|
0.00113
|
NM_004086.3(COCH):c.*339T>C
|
rs187461561
|
0.00113
|
NM_017791.3(FLVCR2):c.*1517T>C
|
rs114442666
|
0.00113
|
NM_002473.6(MYH9):c.2448C>T (p.Cys816=)
|
rs113285582
|
0.00112
|
NM_025074.7(FRAS1):c.4959G>A (p.Pro1653=)
|
rs372154997
|
0.00112
|
NM_000208.4(INSR):c.687C>T (p.Thr229=)
|
rs150568177
|
0.00111
|
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=)
|
rs149240122
|
0.00111
|
NM_001267550.2(TTN):c.18824A>G (p.Asn6275Ser)
|
rs184412722
|
0.00111
|
NM_001267550.2(TTN):c.89994G>A (p.Ser29998=)
|
rs142891278
|
0.00111
|
NM_002473.6(MYH9):c.-19-7C>T
|
rs184332718
|
0.00111
|
NM_004525.3(LRP2):c.170C>T (p.Ala57Val)
|
rs115350461
|
0.00111
|
NM_182961.4(SYNE1):c.9651+12G>A
|
rs143173603
|
0.00111
|
NM_001267550.2(TTN):c.49371A>T (p.Leu16457=)
|
rs146163169
|
0.00110
|
NM_001267550.2(TTN):c.49919G>C (p.Ser16640Thr)
|
rs55663050
|
0.00110
|
NM_004086.3(COCH):c.629+5C>T
|
rs202109231
|
0.00110
|
NM_014028.4(OSTM1):c.495A>G (p.Thr165=)
|
rs137974384
|
0.00110
|
NM_001267550.2(TTN):c.107700A>G (p.Glu35900=)
|
rs55832587
|
0.00109
|
NM_001267550.2(TTN):c.57648C>T (p.Ile19216=)
|
rs55956577
|
0.00109
|
NM_003383.5(VLDLR):c.-111C>T
|
rs374367278
|
0.00109
|
NM_004525.3(LRP2):c.391A>G (p.Arg131Gly)
|
rs34592807
|
0.00109
|
NM_203486.3(DLL3):c.63C>T (p.Leu21=)
|
rs146255899
|
0.00109
|
NM_000124.4(ERCC6):c.3456T>G (p.Gly1152=)
|
rs148366188
|
0.00108
|
NM_001267550.2(TTN):c.91565-13C>T
|
rs200847757
|
0.00108
|
NM_001267550.2(TTN):c.91765G>A (p.Ala30589Thr)
|
rs148617456
|
0.00108
|
NM_001267550.2(TTN):c.95148C>T (p.Thr31716=)
|
rs140663434
|
0.00108
|
NM_001267550.2(TTN):c.95297C>T (p.Ser31766Phe)
|
rs191484894
|
0.00108
|
NM_006721.4(ADK):c.1088G>A (p.Ter363=)
|
rs148819558
|
0.00108
|
NM_018389.5(SLC35C1):c.*1569G>C
|
rs139986610
|
0.00108
|
NM_020631.6(PLEKHG5):c.994C>T (p.Arg332Trp)
|
rs140202670
|
0.00108
|
NM_130384.3(ATRIP):c.*665C>T
|
rs548710061
|
0.00108
|
NM_001145809.2(MYH14):c.4417G>A (p.Val1473Met)
|
rs112716976
|
0.00107
|
NM_001267550.2(TTN):c.64789G>A (p.Val21597Met)
|
rs150661999
|
0.00107
|
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser)
|
rs34988750
|
0.00107
|
NM_014780.5(CUL7):c.4659G>A (p.Glu1553=)
|
rs139243761
|
0.00107
|
NM_001267550.2(TTN):c.101891G>A (p.Arg33964His)
|
rs55669553
|
0.00106
|
NM_001267550.2(TTN):c.25490G>A (p.Arg8497His)
|
rs149855485
|
0.00106
|
NM_001267550.2(TTN):c.47545C>A (p.Pro15849Thr)
|
rs146181477
|
0.00106
|
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=)
|
rs181248369
|
0.00106
|
NM_001127453.2(GSDME):c.528C>T (p.Val176=)
|
rs138741730
|
0.00105
|
NM_002180.3(IGHMBP2):c.2844G>A (p.Gly948=)
|
rs147918962
|
0.00105
|
NM_018136.5(ASPM):c.-9G>T
|
rs141108591
|
0.00105
|
NM_022336.4(EDAR):c.*1364T>G
|
rs147757790
|
0.00105
|
NM_025074.7(FRAS1):c.6763+12A>G
|
rs185282133
|
0.00105
|
NM_001267550.2(TTN):c.20175A>G (p.Ile6725Met)
|
rs146627500
|
0.00104
|
NM_001267550.2(TTN):c.24150C>T (p.Ser8050=)
|
rs185062935
|
0.00104
|
NM_001267550.2(TTN):c.29605-12T>C
|
rs143352892
|
0.00104
|
NM_001267550.2(TTN):c.30384T>C (p.Asp10128=)
|
rs188584219
|
0.00104
|
NM_001267550.2(TTN):c.45175G>A (p.Ala15059Thr)
|
rs144668626
|
0.00104
|
NM_001267550.2(TTN):c.82560C>A (p.Asn27520Lys)
|
rs56264840
|
0.00104
|
NM_005422.4(TECTA):c.1085G>T (p.Ser362Ile)
|
rs149001418
|
0.00104
|
NM_016938.5(EFEMP2):c.139C>T (p.Pro47Ser)
|
rs144320036
|
0.00104
|
NM_000352.6(ABCC8):c.1920G>A (p.Ala640=)
|
rs146156937
|
0.00103
|
NM_001267550.2(TTN):c.101406C>G (p.Val33802=)
|
rs55802460
|
0.00103
|
NM_001267550.2(TTN):c.106638G>A (p.Arg35546=)
|
rs56324602
|
0.00103
|
NM_001267550.2(TTN):c.72624A>G (p.Pro24208=)
|
rs56293906
|
0.00103
|
NM_001267550.2(TTN):c.90826T>G (p.Cys30276Gly)
|
rs150430592
|
0.00103
|
NM_022124.6(CDH23):c.198G>A (p.Val66=)
|
rs111033288
|
0.00103
|
NM_052989.3(IFT122):c.2433C>T (p.Cys811=)
|
rs141626835
|
0.00103
|
NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=)
|
rs140136749
|
0.00103
|
NM_206933.4(USH2A):c.2256T>C (p.His752=)
|
rs111033281
|
0.00103
|
NM_000057.4(BLM):c.11T>C (p.Val4Ala)
|
rs144706057
|
0.00102
|
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met)
|
rs139524121
|
0.00102
|
NM_001267550.2(TTN):c.102595A>G (p.Ile34199Val)
|
rs56347248
|
0.00102
|
NM_000163.5(GHR):c.1542T>G (p.Cys514Trp)
|
rs148945224
|
0.00101
|
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn)
|
rs142422990
|
0.00101
|
NM_001145809.2(MYH14):c.36G>A (p.Lys12=)
|
rs372741317
|
0.00100
|
NM_003839.4(TNFRSF11A):c.*1060C>T
|
rs572639953
|
0.00100
|
NM_004525.3(LRP2):c.2603C>G (p.Thr868Ser)
|
rs150752263
|
0.00100
|
NM_006946.4(SPTBN2):c.1722G>A (p.Glu574=)
|
rs143083152
|
0.00100
|
NM_138694.4(PKHD1):c.12027C>G (p.Tyr4009Ter)
|
rs143616240
|
0.00100
|
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=)
|
rs56026369
|
0.00099
|
NM_000211.5(ITGB2):c.2189G>A (p.Ser730Asn)
|
rs140767058
|
0.00098
|
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg)
|
rs184866544
|
0.00098
|
NM_000360.4(TH):c.-7C>T
|
rs199925956
|
0.00098
|
NM_004525.3(LRP2):c.6176C>T (p.Ser2059Phe)
|
rs148299415
|
0.00098
|
NM_006208.3(ENPP1):c.*804A>G
|
rs114078048
|
0.00098
|
NM_025074.7(FRAS1):c.10539A>G (p.Thr3513=)
|
rs199921300
|
0.00098
|
NM_000352.6(ABCC8):c.1384A>G (p.Ile462Val)
|
rs117874766
|
0.00097
|
NM_001254.4(CDC6):c.165C>T (p.Pro55=)
|
rs142289528
|
0.00097
|
NM_002292.4(LAMB2):c.1306G>A (p.Gly436Ser)
|
rs142402808
|
0.00096
|
NM_005219.5(DIAPH1):c.*16C>T
|
rs202086273
|
0.00096
|
NM_014053.4(FLVCR1):c.*1300A>G
|
rs186133334
|
0.00096
|
NM_017875.4(SLC25A38):c.*490G>A
|
rs150889211
|
0.00096
|
NM_018451.5(CENPJ):c.2298T>A (p.Asp766Glu)
|
rs79951875
|
0.00096
|
NM_207361.6(FREM2):c.5109C>T (p.Ala1703=)
|
rs11619157
|
0.00096
|
NM_020779.4(WDR35):c.770T>C (p.Val257Ala)
|
rs142955097
|
0.00095
|
NM_001267550.2(TTN):c.80322C>T (p.Ala26774=)
|
rs55892928
|
0.00094
|
NM_004415.4(DSP):c.88G>A (p.Val30Met)
|
rs121912998
|
0.00094
|
NM_018451.5(CENPJ):c.2571C>G (p.Ser857Arg)
|
rs78628025
|
0.00094
|
NM_024570.4(RNASEH2B):c.-117C>G
|
rs553446261
|
0.00094
|
NM_182548.4(LHFPL5):c.*485C>T
|
rs534224847
|
0.00094
|
NM_001145809.2(MYH14):c.2432C>T (p.Ala811Val)
|
rs201337011
|
0.00093
|
NM_014336.4(AIPL1):c.-107C>G
|
rs149098937
|
0.00093
|
NM_139319.3(SLC17A8):c.-246T>C
|
rs60738448
|
0.00093
|
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro)
|
rs557830930
|
0.00093
|
NM_001184.4(ATR):c.5070C>T (p.Ala1690=)
|
rs142881746
|
0.00092
|
NM_001267550.2(TTN):c.16529A>G (p.Tyr5510Cys)
|
rs72648939
|
0.00092
|
NM_004560.4(ROR2):c.1736A>T (p.Asp579Val)
|
rs150610444
|
0.00092
|
NM_000277.3(PAH):c.158G>A (p.Arg53His)
|
rs118092776
|
0.00091
|
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu)
|
rs72646845
|
0.00091
|
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys)
|
rs142885240
|
0.00091
|
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=)
|
rs201614215
|
0.00091
|
NM_000057.4(BLM):c.3592G>A (p.Val1198Met)
|
rs142928725
|
0.00090
|
NM_000260.4(MYO7A):c.1554+7C>T
|
rs150114658
|
0.00090
|
NM_005219.5(DIAPH1):c.*1557C>T
|
rs566532178
|
0.00090
|
NM_005422.4(TECTA):c.1002C>T (p.Asp334=)
|
rs35282525
|
0.00090
|
NM_006005.3(WFS1):c.683G>A (p.Arg228His)
|
rs150771247
|
0.00090
|
NM_153717.3(EVC):c.*492G>A
|
rs530991301
|
0.00090
|
NM_000553.6(WRN):c.2500C>T (p.Arg834Cys)
|
rs3087425
|
0.00089
|
NM_001351132.2(PEX5):c.*462G>C
|
rs75145323
|
0.00089
|
NM_001386140.1(MTTP):c.*694A>C
|
rs187658213
|
0.00089
|
NM_014780.5(CUL7):c.3695G>A (p.Arg1232Gln)
|
rs36004037
|
0.00089
|
NM_025216.3(WNT10A):c.208C>T (p.Arg70Trp)
|
rs146460077
|
0.00089
|
NM_002473.6(MYH9):c.4727G>A (p.Arg1576Gln)
|
rs143269195
|
0.00088
|
NM_002473.6(MYH9):c.5010G>A (p.Glu1670=)
|
rs76069100
|
0.00088
|
NM_002473.6(MYH9):c.615C>T (p.Gly205=)
|
rs139466141
|
0.00088
|
NM_000260.4(MYO7A):c.4620G>A (p.Ala1540=)
|
rs41298745
|
0.00087
|
NM_000414.3(HSD17B4):c.-119C>G
|
rs11739468
|
0.00087
|
NM_004415.4(DSP):c.7734C>T (p.Ser2578=)
|
rs28763970
|
0.00087
|
NM_015311.3(OBSL1):c.5676G>A (p.Leu1892=)
|
rs3795991
|
0.00087
|
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile)
|
rs149754073
|
0.00086
|
NM_001081.4(CUBN):c.1951C>G (p.Arg651Gly)
|
rs182512508
|
0.00086
|
NM_153240.5(NPHP3):c.105G>A (p.Lys35=)
|
rs377060857
|
0.00085
|
NM_015910.7(WDPCP):c.*327G>A
|
rs565212301
|
0.00084
|
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=)
|
rs17752991
|
0.00084
|
NM_002473.6(MYH9):c.1242C>T (p.Ile414=)
|
rs138436678
|
0.00083
|
NM_004086.3(COCH):c.1348A>G (p.Ile450Val)
|
rs139503327
|
0.00083
|
NM_006005.3(WFS1):c.966C>T (p.His322=)
|
rs140196582
|
0.00083
|
NM_006642.5(SDCCAG8):c.-4G>A
|
rs113193158
|
0.00083
|
NM_032119.4(ADGRV1):c.18803-13A>G
|
rs41305902
|
0.00083
|
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile)
|
rs138728350
|
0.00083
|
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser)
|
rs150367317
|
0.00083
|
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)
|
rs119103248
|
0.00083
|
NM_001267550.2(TTN):c.29128G>A (p.Val9710Ile)
|
rs72649002
|
0.00082
|
NM_153717.3(EVC):c.*1976C>T
|
rs56333422
|
0.00082
|
NM_002473.6(MYH9):c.*8C>T
|
rs201455315
|
0.00081
|
NM_194248.3(OTOF):c.2908C>T (p.Arg970Cys)
|
rs140613217
|
0.00081
|
NM_001267550.2(TTN):c.32807-10T>A
|
rs138192315
|
0.00080
|
NM_001367624.2(ZNF469):c.2035G>A (p.Glu679Lys)
|
rs551591362
|
0.00080
|
NM_004407.4(DMP1):c.724T>C (p.Ser242Pro)
|
rs147552663
|
0.00080
|
NM_014053.4(FLVCR1):c.*284G>A
|
rs41301021
|
0.00080
|
NM_025074.7(FRAS1):c.9446C>T (p.Thr3149Met)
|
rs150680111
|
0.00080
|
NM_138694.4(PKHD1):c.1877A>G (p.Lys626Arg)
|
rs117122807
|
0.00080
|
NM_001267550.2(TTN):c.1537-4G>A
|
rs56006378
|
0.00079
|
NM_002857.4(PEX19):c.*1802G>C
|
rs745362133
|
0.00079
|
NM_005422.4(TECTA):c.2367+9C>T
|
rs368080945
|
0.00079
|
NM_000163.5(GHR):c.*836G>C
|
rs371249176
|
0.00078
|
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn)
|
rs144963736
|
0.00078
|
NM_004100.5(EYA4):c.*2588C>T
|
rs140401218
|
0.00078
|
NM_005529.7(HSPG2):c.11827G>A (p.Ala3943Thr)
|
rs116630187
|
0.00078
|
NM_005982.4(SIX1):c.330G>A (p.Arg110=)
|
rs73309461
|
0.00078
|
NM_015102.5(NPHP4):c.2820G>A (p.Ala940=)
|
rs35575973
|
0.00078
|
NM_139319.3(SLC17A8):c.*1243A>C
|
rs146008884
|
0.00078
|
NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser)
|
rs138307707
|
0.00078
|
NM_000211.5(ITGB2):c.732C>T (p.Ala244=)
|
rs146557638
|
0.00077
|
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=)
|
rs144807538
|
0.00076
|
NM_006005.3(WFS1):c.1152C>T (p.Phe384=)
|
rs149846741
|
0.00076
|
NM_198428.3(BBS9):c.2470C>T (p.Arg824Cys)
|
rs146752751
|
0.00076
|
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=)
|
rs72646867
|
0.00075
|
NM_032119.4(ADGRV1):c.18470A>G (p.Asn6157Ser)
|
rs200111522
|
0.00075
|
NM_015102.5(NPHP4):c.2257G>A (p.Asp753Asn)
|
rs148424288
|
0.00074
|
NM_016219.5(MAN1B1):c.2020G>A (p.Asp674Asn)
|
rs181795958
|
0.00074
|
NM_033028.5(BBS4):c.*691G>A
|
rs192812230
|
0.00074
|
NM_000124.4(ERCC6):c.150G>A (p.Val50=)
|
rs80133923
|
0.00073
|
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His)
|
rs200641606
|
0.00073
|
NM_004525.3(LRP2):c.9617G>A (p.Arg3206His)
|
rs148251117
|
0.00073
|
NM_014425.5(INVS):c.1704G>A (p.Gly568=)
|
rs114645869
|
0.00073
|
NM_033064.5(ATCAY):c.615C>A (p.Pro205=)
|
rs112563476
|
0.00073
|
NM_138691.3(TMC1):c.924C>G (p.Asp308Glu)
|
rs113342704
|
0.00073
|
NM_000260.4(MYO7A):c.5904C>T (p.His1968=)
|
rs41298753
|
0.00072
|
NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala)
|
rs56137800
|
0.00072
|
NM_022098.4(XPNPEP3):c.63A>G (p.Ser21=)
|
rs139991468
|
0.00072
|
NM_001267550.2(TTN):c.44529C>T (p.His14843=)
|
rs55973744
|
0.00071
|
NM_025074.7(FRAS1):c.9296G>A (p.Arg3099Gln)
|
rs149692526
|
0.00071
|
NM_153717.3(EVC):c.*994C>T
|
rs547970729
|
0.00071
|
NM_001267550.2(TTN):c.30224-8T>G
|
rs72650010
|
0.00070
|
NM_015102.5(NPHP4):c.-90A>T
|
rs527962872
|
0.00070
|
NM_018451.5(CENPJ):c.2806A>G (p.Ser936Gly)
|
rs75008861
|
0.00070
|
NM_025074.7(FRAS1):c.8574G>A (p.Lys2858=)
|
rs201745281
|
0.00070
|
NM_000260.4(MYO7A):c.3474C>T (p.Ile1158=)
|
rs201834743
|
0.00069
|
NM_000553.6(WRN):c.3237G>A (p.Ser1079=)
|
rs11574345
|
0.00069
|
NM_022124.6(CDH23):c.5541C>T (p.Asn1847=)
|
rs148632119
|
0.00069
|
NM_000163.5(GHR):c.1483C>A (p.Pro495Thr)
|
rs6183
|
0.00068
|
NM_014028.4(OSTM1):c.134A>G (p.Asp45Gly)
|
rs202093691
|
0.00068
|
NM_015102.5(NPHP4):c.3292G>A (p.Ala1098Thr)
|
rs41280798
|
0.00068
|
NM_025216.2(WNT10A):c.-312C>T
|
rs138370318
|
0.00068
|
NM_001278293.3(ARL6):c.*470G>A
|
rs184213166
|
0.00067
|
NM_004100.5(EYA4):c.866C>T (p.Thr289Met)
|
rs41286200
|
0.00067
|
NM_025216.3(WNT10A):c.649G>A (p.Asp217Asn)
|
rs146902156
|
0.00067
|
NM_032193.4(RNASEH2C):c.*295C>T
|
rs538167829
|
0.00067
|
NM_002473.6(MYH9):c.2872G>A (p.Ala958Thr)
|
rs151036570
|
0.00066
|
NM_002473.6(MYH9):c.5877C>T (p.Ala1959=)
|
rs144179406
|
0.00066
|
NM_018136.5(ASPM):c.1007C>A (p.Thr336Lys)
|
rs112113370
|
0.00066
|
NM_018136.5(ASPM):c.844A>C (p.Asn282His)
|
rs113777932
|
0.00066
|
NM_018136.5(ASPM):c.905G>A (p.Cys302Tyr)
|
rs77736715
|
0.00066
|
NM_033056.4(PCDH15):c.4812G>T (p.Arg1604Ser)
|
rs148718874
|
0.00066
|
NM_182961.4(SYNE1):c.*95C>T
|
rs139397787
|
0.00066
|
NM_000414.4(HSD17B4):c.*135T>G
|
rs185522709
|
0.00065
|
NM_003193.5(TBCE):c.*108A>G
|
rs78867315
|
0.00065
|
NM_006005.3(WFS1):c.*80C>T
|
rs183014938
|
0.00065
|
NM_000260.4(MYO7A):c.2283G>A (p.Arg761=)
|
rs111033229
|
0.00064
|
NM_001099287.1(NIPAL4):c.78C>A (p.Gly26=)
|
rs374248640
|
0.00064
|
NM_005708.5(GPC6):c.*4169A>C
|
rs528405141
|
0.00064
|
NM_025132.4(WDR19):c.2608G>A (p.Asp870Asn)
|
rs201963605
|
0.00064
|
NM_000260.4(MYO7A):c.2882G>A (p.Gly961Asp)
|
rs199575418
|
0.00063
|
NM_000318.3(PEX2):c.*1765G>A
|
rs60300869
|
0.00063
|
NM_001127671.2(LIFR):c.*2712C>T
|
rs547688841
|
0.00063
|
NM_001267550.2(TTN):c.19191G>A (p.Thr6397=)
|
rs140495148
|
0.00063
|
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp)
|
rs147202164
|
0.00063
|
NM_153240.5(NPHP3):c.*1176G>A
|
rs183658380
|
0.00063
|
NM_153240.5(NPHP3):c.*926C>T
|
rs570076170
|
0.00063
|
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly)
|
rs147000526
|
0.00062
|
NM_006642.5(SDCCAG8):c.1409A>G (p.Glu470Gly)
|
rs118064970
|
0.00062
|
NM_000124.4(ERCC6):c.400C>T (p.Arg134Trp)
|
rs148095899
|
0.00061
|
NM_000352.5(ABCC8):c.*118A>G
|
rs142441893
|
0.00061
|
NM_001384140.1(PCDH15):c.4334C>G (p.Ala1445Gly)
|
rs146745502
|
0.00061
|
NM_002473.6(MYH9):c.4344+10C>T
|
rs200977419
|
0.00061
|
NM_005219.5(DIAPH1):c.*734C>T
|
rs557696634
|
0.00061
|
NM_018136.5(ASPM):c.9492T>C (p.Tyr3164=)
|
rs143931757
|
0.00061
|
NM_004100.5(EYA4):c.*1905T>A
|
rs542036379
|
0.00060
|
NM_004004.6(GJB2):c.11G>A (p.Gly4Asp)
|
rs111033222
|
0.00059
|
NM_018136.5(ASPM):c.8449G>T (p.Ala2817Ser)
|
rs117963393
|
0.00059
|
NM_144596.4(TTC8):c.*83A>G
|
rs147325843
|
0.00059
|
NM_207361.6(FREM2):c.*3136G>A
|
rs192657481
|
0.00059
|
NM_001267550.2(TTN):c.79700A>G (p.Asn26567Ser)
|
rs183844833
|
0.00058
|
NM_003383.5(VLDLR):c.468C>T (p.Pro156=)
|
rs2242105
|
0.00058
|
NM_014028.4(OSTM1):c.*3192A>C
|
rs185905869
|
0.00058
|
NM_024753.5(TTC21B):c.*847A>C
|
rs138656848
|
0.00058
|
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr)
|
rs189556433
|
0.00058
|
NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr)
|
rs145136257
|
0.00057
|
NM_001267550.2(TTN):c.87877C>T (p.Arg29293Cys)
|
rs191482653
|
0.00057
|
NM_005422.4(TECTA):c.4611C>T (p.Pro1537=)
|
rs138477419
|
0.00057
|
NM_006005.3(WFS1):c.-148G>T
|
rs542977017
|
0.00057
|
NM_006005.3(WFS1):c.1153G>A (p.Glu385Lys)
|
rs71524353
|
0.00057
|
NM_020631.6(PLEKHG5):c.-113C>A
|
rs190848227
|
0.00057
|
NM_024649.5(BBS1):c.*219A>G
|
rs74451472
|
0.00057
|
NM_013382.7(POMT2):c.1537A>G (p.Asn513Asp)
|
rs117173425
|
0.00056
|
NM_025132.4(WDR19):c.3008A>G (p.Glu1003Gly)
|
rs201354264
|
0.00056
|
NM_033056.4(PCDH15):c.5398G>A (p.Val1800Ile)
|
rs111033463
|
0.00056
|
NM_173477.5(USH1G):c.*1821C>G
|
rs74943260
|
0.00056
|
NM_002473.6(MYH9):c.3216G>A (p.Ala1072=)
|
rs139441456
|
0.00055
|
NM_004086.3(COCH):c.429A>G (p.Pro143=)
|
rs147841606
|
0.00055
|
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser)
|
rs34239595
|
0.00055
|
NM_144508.5(KNL1):c.3405C>T (p.Ala1135=)
|
rs142853192
|
0.00055
|
NM_000260.4(MYO7A):c.-154G>A
|
rs545774605
|
0.00054
|
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys)
|
rs149916178
|
0.00054
|
NM_001267550.2(TTN):c.63876C>T (p.Asn21292=)
|
rs199598302
|
0.00054
|
NM_022124.6(CDH23):c.5821-13C>T
|
rs117317626
|
0.00054
|
NM_025114.4(CEP290):c.1092T>G (p.Ile364Met)
|
rs201988582
|
0.00054
|
NM_000163.5(GHR):c.*1611G>A
|
rs543135249
|
0.00053
|
NM_001267550.2(TTN):c.99031T>A (p.Ser33011Thr)
|
rs78814506
|
0.00053
|
NM_005982.4(SIX1):c.*443A>G
|
rs186530769
|
0.00053
|
NM_018319.4(TDP1):c.*1430G>C
|
rs34513682
|
0.00053
|
NM_018451.5(CENPJ):c.763A>G (p.Thr255Ala)
|
rs150932292
|
0.00053
|
NM_020661.4(AICDA):c.*958A>G
|
rs184392902
|
0.00053
|
NM_022124.6(CDH23):c.9077+7C>T
|
rs76114420
|
0.00053
|
NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe)
|
rs61753526
|
0.00053
|
NM_203486.3(DLL3):c.1388G>T (p.Arg463Leu)
|
rs758148689
|
0.00053
|
NM_000553.6(WRN):c.3422C>T (p.Ser1141Leu)
|
rs139323683
|
0.00052
|
NM_001081.4(CUBN):c.2016G>A (p.Pro672=)
|
rs148107237
|
0.00052
|
NM_001145809.2(MYH14):c.1919G>A (p.Arg640Gln)
|
rs199696801
|
0.00052
|
NM_001367624.2(ZNF469):c.9555C>G (p.Ala3185=)
|
rs273585636
|
0.00052
|
NM_006019.4(TCIRG1):c.274C>T (p.Arg92Trp)
|
rs371907380
|
0.00052
|
NM_018249.6(CDK5RAP2):c.2294C>G (p.Pro765Arg)
|
rs139706626
|
0.00052
|
NM_025074.7(FRAS1):c.6939C>T (p.Pro2313=)
|
rs150936204
|
0.00052
|
NM_207361.6(FREM2):c.2133G>A (p.Met711Ile)
|
rs115446826
|
0.00052
|
NM_000208.4(INSR):c.*1116G>A
|
rs146905190
|
0.00051
|
NM_000260.4(MYO7A):c.486C>T (p.Ala162=)
|
rs367687624
|
0.00051
|
NM_001042545.2(LTBP4):c.1882C>T (p.Arg628Cys)
|
rs200338042
|
0.00051
|
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser)
|
rs138607412
|
0.00051
|
NM_017755.6(NSUN2):c.2272T>C (p.Cys758Arg)
|
rs149244771
|
0.00051
|
NM_018718.3(CEP41):c.*2481T>A
|
rs528289176
|
0.00051
|
NM_170707.4(LMNA):c.-128T>C
|
rs80356803
|
0.00051
|
NM_000162.5(GCK):c.*510C>T
|
rs141645300
|
0.00050
|
NM_000553.6(WRN):c.1882C>G (p.Leu628Val)
|
rs77969734
|
0.00050
|
NM_005422.4(TECTA):c.1509C>T (p.Cys503=)
|
rs61733565
|
0.00050
|
NM_012414.4(RAB3GAP2):c.3991C>A (p.Leu1331Ile)
|
rs149842844
|
0.00050
|
NM_015910.7(WDPCP):c.-113C>A
|
rs192963932
|
0.00050
|
NM_203486.3(DLL3):c.1356C>T (p.Val452=)
|
rs554268445
|
0.00050
|
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys)
|
rs199810429
|
0.00049
|
NM_005529.7(HSPG2):c.11072C>T (p.Thr3691Ile)
|
rs149159881
|
0.00049
|
NM_000208.3(INSR):c.*4803G>A
|
rs138569451
|
0.00048
|
NM_000318.3(PEX2):c.*2004C>T
|
rs117344716
|
0.00048
|
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=)
|
rs72646876
|
0.00048
|
NM_005219.5(DIAPH1):c.2011G>A (p.Gly671Arg)
|
rs766804741
|
0.00048
|
NM_006005.3(WFS1):c.*263T>G
|
rs571223325
|
0.00048
|
NM_018718.3(CEP41):c.*2896G>A
|
rs147207980
|
0.00048
|
NM_022124.6(CDH23):c.1078C>T (p.Leu360=)
|
rs185917383
|
0.00048
|
NM_001013693.3(LDLRAD2):c.*478G>C
|
rs538032437
|
0.00047
|
NM_001267550.2(TTN):c.54189T>C (p.Tyr18063=)
|
rs2303834
|
0.00047
|
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=)
|
rs202017608
|
0.00047
|
NM_018718.3(CEP41):c.*1534T>C
|
rs149912245
|
0.00047
|
NM_018718.3(CEP41):c.*1567A>C
|
rs139085191
|
0.00047
|
NM_024753.5(TTC21B):c.*516C>T
|
rs185578095
|
0.00047
|
NM_032119.4(ADGRV1):c.2241-10A>T
|
rs150996234
|
0.00047
|
NM_000318.3(PEX2):c.*233C>G
|
rs190595998
|
0.00046
|
NM_002473.6(MYH9):c.5026A>G (p.Lys1676Glu)
|
rs138158369
|
0.00046
|
NM_003383.5(VLDLR):c.71C>A (p.Ala24Asp)
|
rs754340855
|
0.00046
|
NM_003701.4(TNFSF11):c.-141C>T
|
rs45468495
|
0.00046
|
NM_014780.5(CUL7):c.3876C>T (p.Ile1292=)
|
rs147056081
|
0.00046
|
NM_018136.5(ASPM):c.8166T>C (p.Tyr2722=)
|
rs78315399
|
0.00046
|
NM_153676.4(USH1C):c.648G>A (p.Leu216=)
|
rs77137413
|
0.00046
|
NM_182961.4(SYNE1):c.14091G>T (p.Met4697Ile)
|
rs141141950
|
0.00046
|
NM_001267550.2(TTN):c.71369G>A (p.Arg23790His)
|
rs55677134
|
0.00045
|
NM_004004.6(GJB2):c.*1C>T
|
rs111033327
|
0.00045
|
NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser)
|
rs140170914
|
0.00045
|
NM_004525.3(LRP2):c.6256A>T (p.Thr2086Ser)
|
rs146149181
|
0.00045
|
NM_025074.7(FRAS1):c.10077G>A (p.Pro3359=)
|
rs183724131
|
0.00045
|
NM_000334.4(SCN4A):c.2697G>A (p.Leu899=)
|
rs199827271
|
0.00044
|
NM_001048174.2(MUTYH):c.264+11G>A
|
rs139977567
|
0.00044
|
NM_001242481.2(EIF1AD):c.-329G>A
|
rs117774800
|
0.00044
|
NM_001267550.2(TTN):c.99345T>G (p.Gly33115=)
|
rs56398525
|
0.00044
|
NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro)
|
rs200901330
|
0.00044
|
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile)
|
rs142334798
|
0.00044
|
NM_005529.7(HSPG2):c.5702-13G>A
|
rs141464854
|
0.00044
|
NM_000124.4(ERCC6):c.*1314G>A
|
rs542053472
|
0.00043
|
NM_001127453.2(GSDME):c.1122C>T (p.Pro374=)
|
rs138980048
|
0.00043
|
NM_018451.5(CENPJ):c.600G>T (p.Gln200His)
|
rs200061825
|
0.00043
|
NM_139343.3(BIN1):c.1292C>T (p.Pro431Leu)
|
rs141119288
|
0.00043
|
NM_000260.4(MYO7A):c.186G>A (p.Thr62=)
|
rs368267301
|
0.00042
|
NM_032575.3(GLIS2):c.*54C>T
|
rs368483996
|
0.00042
|
NM_000124.4(ERCC6):c.3186T>C (p.Ser1062=)
|
rs35365613
|
0.00041
|
NM_001081.4(CUBN):c.6089G>A (p.Arg2030Gln)
|
rs143400113
|
0.00041
|
NM_001134831.2(AHI1):c.3342A>G (p.Glu1114=)
|
rs199708272
|
0.00041
|
NM_002473.6(MYH9):c.4878C>T (p.Ile1626=)
|
rs143947828
|
0.00041
|
NM_003619.4(PRSS12):c.*764A>G
|
rs11098431
|
0.00041
|
NM_004415.4(DSP):c.2723G>A (p.Arg908His)
|
rs142494121
|
0.00041
|
NM_004813.4(PEX16):c.149-6C>T
|
rs78883829
|
0.00041
|
NM_005708.5(GPC6):c.*126G>C
|
rs117059477
|
0.00041
|
NM_017777.4(MKS1):c.*134C>T
|
rs34224064
|
0.00041
|
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser)
|
rs577209883
|
0.00041
|
NM_153717.3(EVC):c.*2310G>A
|
rs539844915
|
0.00041
|
NM_000260.4(MYO7A):c.2506C>T (p.Arg836Cys)
|
rs375510570
|
0.00040
|
NM_000466.3(PEX1):c.2718+3A>G
|
rs370536529
|
0.00040
|
NM_001254.4(CDC6):c.*653C>A
|
rs4135033
|
0.00040
|
NM_001017420.3(ESCO2):c.*96C>T
|
rs118103454
|
0.00039
|
NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys)
|
rs201816080
|
0.00039
|
NM_001384140.1(PCDH15):c.3451G>A (p.Gly1151Arg)
|
rs149478475
|
0.00039
|
NM_002473.6(MYH9):c.769+15C>T
|
rs201691359
|
0.00039
|
NM_015910.7(WDPCP):c.83A>T (p.Asp28Val)
|
rs144703991
|
0.00039
|
NM_033064.4(ATCAY):c.-398C>A
|
rs186140929
|
0.00039
|
NM_033064.5(ATCAY):c.545-8C>T
|
rs370662253
|
0.00039
|
NM_033064.5(ATCAY):c.866+7C>T
|
rs140799527
|
0.00039
|
NM_000162.5(GCK):c.*735C>A
|
rs556996030
|
0.00038
|
NM_000208.4(INSR):c.*3359G>A
|
rs146249924
|
0.00038
|
NM_000302.4(PLOD1):c.1756-13C>T
|
rs370882934
|
0.00038
|
NM_001127453.2(GSDME):c.*346G>C
|
rs144928530
|
0.00038
|
NM_001267550.2(TTN):c.69231T>C (p.Leu23077=)
|
rs12615797
|
0.00038
|
NM_002473.6(MYH9):c.5765+9C>T
|
rs201008102
|
0.00038
|
NM_006397.3(RNASEH2A):c.662A>G (p.Lys221Arg)
|
rs143534021
|
0.00038
|
NM_012414.4(RAB3GAP2):c.2807-15G>A
|
rs200407685
|
0.00038
|
NM_015102.5(NPHP4):c.3045-5C>T
|
rs2297790
|
0.00038
|
NM_015665.6(AAAS):c.327G>T (p.Thr109=)
|
rs190876509
|
0.00038
|
NM_018136.5(ASPM):c.581C>A (p.Ala194Asp)
|
rs141532484
|
0.00038
|
NM_153717.3(EVC):c.1995G>A (p.Ser665=)
|
rs142897994
|
0.00038
|
NM_182961.4(SYNE1):c.9807+14C>G
|
rs182453040
|
0.00038
|
NM_003630.3(PEX3):c.*1335A>G
|
rs9403495
|
0.00037
|
NM_003860.4(BANF1):c.*273C>G
|
rs142270527
|
0.00037
|
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln)
|
rs184154918
|
0.00037
|
NM_015046.7(SETX):c.1693T>C (p.Phe565Leu)
|
rs143982186
|
0.00037
|
NM_018136.5(ASPM):c.7475G>A (p.Arg2492Lys)
|
rs118010078
|
0.00037
|
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val)
|
rs200512504
|
0.00037
|
NM_000019.3(ACAT1):c.*753C>T
|
rs186239800
|
0.00036
|
NM_000260.4(MYO7A):c.2057G>A (p.Arg686His)
|
rs781991817
|
0.00036
|
NM_001017420.3(ESCO2):c.1548G>A (p.Thr516=)
|
rs149917909
|
0.00036
|
NM_001127453.2(GSDME):c.1208T>C (p.Leu403Pro)
|
rs199971778
|
0.00036
|
NM_001145809.2(MYH14):c.1115-4C>T
|
rs142696359
|
0.00036
|
NM_006005.3(WFS1):c.-141A>G
|
rs373287522
|
0.00036
|
NM_018319.4(TDP1):c.1366+10G>A
|
rs200295380
|
0.00036
|
NM_020779.4(WDR35):c.*763T>C
|
rs560228088
|
0.00036
|
NM_032119.4(ADGRV1):c.6187T>C (p.Leu2063=)
|
rs75019370
|
0.00036
|
NM_000260.4(MYO7A):c.3602G>C (p.Cys1201Ser)
|
rs117966637
|
0.00035
|
NM_001048166.1(STIL):c.*730A>G
|
rs184977531
|
0.00035
|
NM_001048174.2(MUTYH):c.850-2A>G
|
rs77542170
|
0.00035
|
NM_001139.3(ALOX12B):c.1565C>T (p.Pro522Leu)
|
rs150371678
|
0.00035
|
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His)
|
rs56071233
|
0.00035
|
NM_002473.6(MYH9):c.*329C>T
|
rs566336121
|
0.00035
|
NM_002860.4(ALDH18A1):c.*734C>A
|
rs184009046
|
0.00035
|
NM_004086.3(COCH):c.*237G>C
|
rs190142757
|
0.00035
|
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr)
|
rs143142641
|
0.00035
|
NM_020661.4(AICDA):c.*1934C>T
|
rs104894981
|
0.00035
|
NM_022336.4(EDAR):c.731-4G>T
|
rs201539805
|
0.00035
|
NM_182961.4(SYNE1):c.22137C>T (p.Asp7379=)
|
rs148556501
|
0.00035
|
NM_000260.4(MYO7A):c.3415G>A (p.Gly1139Ser)
|
rs200840044
|
0.00034
|
NM_000260.4(MYO7A):c.687C>T (p.Gly229=)
|
rs371142158
|
0.00034
|
NM_001145809.2(MYH14):c.4138-13C>T
|
rs183327883
|
0.00034
|
NM_001194998.2(CEP152):c.2681C>T (p.Ser894Phe)
|
rs145138194
|
0.00034
|
NM_004525.3(LRP2):c.2511C>T (p.Ala837=)
|
rs375313914
|
0.00034
|
NM_016219.5(MAN1B1):c.*292G>A
|
rs145815566
|
0.00034
|
NM_025074.7(FRAS1):c.1820-11C>G
|
rs117925872
|
0.00034
|
NM_198428.3(BBS9):c.1245C>T (p.Val415=)
|
rs61764066
|
0.00034
|
NM_203486.3(DLL3):c.677C>G (p.Pro226Arg)
|
rs145191532
|
0.00034
|
NM_000208.4(INSR):c.*1799C>T
|
rs147080388
|
0.00033
|
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys)
|
rs147415451
|
0.00033
|
NM_005422.4(TECTA):c.1291A>T (p.Thr431Ser)
|
rs138843691
|
0.00033
|
NM_005529.7(HSPG2):c.11289G>A (p.Leu3763=)
|
rs375617316
|
0.00033
|
NM_014780.4(CUL7):c.-272C>T
|
rs754072990
|
0.00033
|
NM_153717.3(EVC):c.*2125T>G
|
rs139771274
|
0.00033
|
NM_005982.4(SIX1):c.578A>T (p.Asn193Ile)
|
rs142301715
|
0.00032
|
NM_015272.5(RPGRIP1L):c.*1033G>A
|
rs145688122
|
0.00032
|
NM_021252.5(RAB18):c.*2242A>G
|
rs186240753
|
0.00032
|
NM_001134831.2(AHI1):c.3418C>T (p.Pro1140Ser)
|
rs201148693
|
0.00031
|
NM_002473.6(MYH9):c.2500-14A>G
|
rs199505086
|
0.00031
|
NM_004086.3(COCH):c.272G>A (p.Arg91Gln)
|
rs188283330
|
0.00031
|
NM_005982.4(SIX1):c.-14G>T
|
rs374228886
|
0.00031
|
NM_005982.4(SIX1):c.162G>A (p.Ala54=)
|
rs150550985
|
0.00031
|
NM_015294.6(TRIM37):c.1754-3C>T
|
rs373120070
|
0.00031
|
NM_018136.5(ASPM):c.2267A>G (p.Tyr756Cys)
|
rs201066146
|
0.00031
|
NM_025132.4(WDR19):c.2239A>G (p.Ile747Val)
|
rs144335584
|
0.00031
|
NM_033064.5(ATCAY):c.426G>A (p.Thr142=)
|
rs373080859
|
0.00031
|
NM_000260.4(MYO7A):c.324C>T (p.Tyr108=)
|
rs116892396
|
0.00030
|
NM_000302.4(PLOD1):c.1495C>T (p.Arg499Trp)
|
rs149124387
|
0.00030
|
NM_001267550.2(TTN):c.80271C>T (p.Val26757=)
|
rs199875474
|
0.00030
|
NM_005219.5(DIAPH1):c.2032C>T (p.Pro678Ser)
|
rs186370335
|
0.00030
|
NM_006005.3(WFS1):c.1371G>T (p.Arg457Ser)
|
rs113446173
|
0.00030
|
NM_198428.3(BBS9):c.*444G>A
|
rs75625812
|
0.00030
|
NM_000208.4(INSR):c.*2565C>T
|
rs117532686
|
0.00029
|
NM_000260.4(MYO7A):c.2218C>T (p.Arg740Trp)
|
rs201234369
|
0.00029
|
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met)
|
rs201203036
|
0.00029
|
NM_000320.3(QDPR):c.*103C>T
|
rs117036858
|
0.00029
|
NM_000557.5(GDF5):c.-39C>T
|
rs149907722
|
0.00029
|
NM_001134831.2(AHI1):c.2589G>A (p.Glu863=)
|
rs147279669
|
0.00029
|
NM_001145809.2(MYH14):c.*86G>A
|
rs772673014
|
0.00029
|
NM_001145809.2(MYH14):c.5599C>T (p.Arg1867Cys)
|
rs187789045
|
0.00029
|
NM_001194998.2(CEP152):c.4757G>C (p.Arg1586Pro)
|
rs202237336
|
0.00029
|
NM_001366722.1(GRIP1):c.1199-7C>G
|
rs200313638
|
0.00029
|
NM_015474.4(SAMHD1):c.334G>A (p.Val112Ile)
|
rs144353824
|
0.00029
|
NM_018136.5(ASPM):c.937A>G (p.Ile313Val)
|
rs12025066
|
0.00029
|
NM_025114.4(CEP290):c.503G>A (p.Arg168His)
|
rs200063017
|
0.00029
|
NM_170707.4(LMNA):c.1584G>A (p.Thr528=)
|
rs80356812
|
0.00029
|
NM_207361.6(FREM2):c.2480A>C (p.Asn827Thr)
|
rs190810317
|
0.00029
|
NM_000260.4(MYO7A):c.2181T>C (p.Phe727=)
|
rs373656667
|
0.00028
|
NM_000784.4(CYP27A1):c.*47G>A
|
rs140059093
|
0.00028
|
NM_001127649.3(PEX26):c.*114C>T
|
rs45500699
|
0.00028
|
NM_002473.6(MYH9):c.4359G>A (p.Glu1453=)
|
rs202127454
|
0.00028
|
NM_004525.3(LRP2):c.*1118T>G
|
rs575232276
|
0.00028
|
NM_004525.3(LRP2):c.*158T>C
|
rs183814447
|
0.00028
|
NM_004525.3(LRP2):c.*297A>G
|
rs192934188
|
0.00028
|
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln)
|
rs71539657
|
0.00028
|
NM_006005.3(WFS1):c.41A>G (p.Gln14Arg)
|
rs142651446
|
0.00028
|
NM_014028.4(OSTM1):c.49T>G (p.Trp17Gly)
|
rs546399681
|
0.00028
|
NM_021830.5(TWNK):c.1527C>T (p.Asp509=)
|
rs62626272
|
0.00028
|
NM_022124.6(CDH23):c.8859C>T (p.Asp2953=)
|
rs11000008
|
0.00028
|
NM_000360.4(TH):c.627C>G (p.Ile209Met)
|
rs202149985
|
0.00027
|
NM_001081.4(CUBN):c.5207C>T (p.Ser1736Leu)
|
rs191787640
|
0.00027
|
NM_001143992.2(WRAP53):c.431+15C>T
|
rs17880740
|
0.00027
|
NM_001145809.2(MYH14):c.820A>G (p.Ile274Val)
|
rs200424400
|
0.00027
|
NM_001351132.2(PEX5):c.-17+273G>T
|
rs117442311
|
0.00027
|
NM_003193.5(TBCE):c.1492-14C>T
|
rs147400126
|
0.00027
|
NM_003630.3(PEX3):c.*895G>A
|
rs3804545
|
0.00027
|
NM_004415.4(DSP):c.1154C>T (p.Ala385Val)
|
rs146737031
|
0.00027
|
NM_006892.4(DNMT3B):c.42C>T (p.Ala14=)
|
rs730823
|
0.00027
|
NM_021252.5(RAB18):c.*2302A>G
|
rs190504134
|
0.00027
|
NM_178170.3(NEK8):c.1770C>T (p.His590=)
|
rs183536507
|
0.00027
|
NM_182961.4(SYNE1):c.9420G>A (p.Ala3140=)
|
rs188913729
|
0.00027
|
NM_000525.4(KCNJ11):c.-154G>T
|
rs539975714
|
0.00026
|
NM_000557.5(GDF5):c.953G>C (p.Arg318Pro)
|
rs201590447
|
0.00026
|
NM_001081.4(CUBN):c.1811C>T (p.Pro604Leu)
|
rs200537125
|
0.00026
|
NM_001374623.1(PNPLA1):c.627C>T (p.His209=)
|
rs187453727
|
0.00026
|
NM_002473.6(MYH9):c.*325C>T
|
rs189775203
|
0.00026
|
NM_003383.5(VLDLR):c.954C>T (p.Cys318=)
|
rs373943845
|
0.00026
|
NM_004004.6(GJB2):c.*1033G>A
|
rs185790172
|
0.00026
|
NM_004415.4(DSP):c.*47T>C
|
rs376397291
|
0.00026
|
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)
|
rs148147581
|
0.00026
|
NM_005219.5(DIAPH1):c.*709C>T
|
rs186922755
|
0.00026
|
NM_014780.4(CUL7):c.-298C>G
|
rs369727378
|
0.00026
|
NM_015311.3(OBSL1):c.851G>A (p.Arg284His)
|
rs200780633
|
0.00026
|
NM_016219.5(MAN1B1):c.717A>G (p.Thr239=)
|
rs112434939
|
0.00026
|
NM_018718.3(CEP41):c.*392G>A
|
rs528501184
|
0.00026
|
NM_020779.4(WDR35):c.*807T>C
|
rs555257043
|
0.00026
|
NM_000208.4(INSR):c.*2456C>T
|
rs145777450
|
0.00025
|
NM_000208.4(INSR):c.*3685T>C
|
rs143409422
|
0.00025
|
NM_000208.4(INSR):c.*3877T>C
|
rs148660410
|
0.00025
|
NM_000281.4(PCBD1):c.*114G>A
|
rs562433724
|
0.00025
|
NM_001145809.2(MYH14):c.5850G>A (p.Glu1950=)
|
rs368708096
|
0.00025
|
NM_002473.6(MYH9):c.1479G>A (p.Gln493=)
|
rs376262583
|
0.00025
|
NM_003896.4(ST3GAL5):c.1036G>A (p.Val346Ile)
|
rs145738225
|
0.00025
|
NM_004560.4(ROR2):c.751C>T (p.Leu251=)
|
rs368471121
|
0.00025
|
NM_005529.7(HSPG2):c.5297C>T (p.Ala1766Val)
|
rs139794766
|
0.00025
|
NM_006019.4(TCIRG1):c.2193C>T (p.Thr731=)
|
rs141601593
|
0.00025
|
NM_015102.5(NPHP4):c.1632C>T (p.Ala544=)
|
rs201903713
|
0.00025
|
NM_018972.4(GDAP1):c.*1701T>C
|
rs781146378
|
0.00025
|
NM_025074.7(FRAS1):c.3065A>C (p.Lys1022Thr)
|
rs201252328
|
0.00025
|
NM_025216.3(WNT10A):c.234C>T (p.His78=)
|
rs199802454
|
0.00025
|
NM_153717.3(EVC):c.2276G>A (p.Ser759Asn)
|
rs201776972
|
0.00025
|
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys)
|
rs199818783
|
0.00024
|
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met)
|
rs140559111
|
0.00024
|
NM_001127453.2(GSDME):c.*24G>A
|
rs199887441
|
0.00024
|
NM_001145809.2(MYH14):c.3871G>T (p.Val1291Leu)
|
rs202242879
|
0.00024
|
NM_001267550.2(TTN):c.15552C>T (p.Thr5184=)
|
rs146353237
|
0.00024
|
NM_001366722.1(GRIP1):c.*234G>A
|
rs541596282
|
0.00024
|
NM_002292.4(LAMB2):c.101C>A (p.Ala34Asp)
|
rs202057459
|
0.00024
|
NM_004999.4(MYO6):c.*4428A>G
|
rs574549669
|
0.00024
|
NM_005422.4(TECTA):c.1461A>G (p.Gly487=)
|
rs202127508
|
0.00024
|
NM_005422.4(TECTA):c.2700G>A (p.Ser900=)
|
rs375406423
|
0.00024
|
NM_005888.3(SLC25A3):c.-74C>T
|
rs532766014
|
0.00024
|
NM_005982.4(SIX1):c.*1079T>A
|
rs559116477
|
0.00024
|
NM_015311.3(OBSL1):c.729G>A (p.Pro243=)
|
rs200417841
|
0.00024
|
NM_052989.3(IFT122):c.3533G>A (p.Arg1178His)
|
rs149029829
|
0.00024
|
NM_178170.3(NEK8):c.1938A>C (p.Gly646=)
|
rs138629865
|
0.00024
|
NM_182961.4(SYNE1):c.17867G>A (p.Arg5956His)
|
rs80265744
|
0.00024
|
NM_000260.4(MYO7A):c.514C>T (p.Leu172=)
|
rs368246776
|
0.00023
|
NM_001184.4(ATR):c.117A>G (p.Gln39=)
|
rs56297030
|
0.00023
|
NM_001366722.1(GRIP1):c.1687+12T>C
|
rs151041073
|
0.00023
|
NM_003619.4(PRSS12):c.*1865T>C
|
rs183712097
|
0.00023
|
NM_006005.3(WFS1):c.2250C>T (p.Ala750=)
|
rs369498603
|
0.00023
|
NM_006208.3(ENPP1):c.*2698G>A
|
rs146550172
|
0.00023
|
NM_017875.4(SLC25A38):c.*549G>A
|
rs189387075
|
0.00023
|
NM_139319.3(SLC17A8):c.*473T>C
|
rs141694078
|
0.00023
|
NM_001099287.1(NIPAL4):c.-41C>T
|
rs555788817
|
0.00022
|
NM_002473.6(MYH9):c.2061C>T (p.Leu687=)
|
rs143801000
|
0.00022
|
NM_006005.3(WFS1):c.1792G>A (p.Ala598Thr)
|
rs140125843
|
0.00022
|
NM_020661.4(AICDA):c.*1662C>A
|
rs527675973
|
0.00022
|
NM_025074.7(FRAS1):c.1635C>T (p.Ser545=)
|
rs528765554
|
0.00022
|
NM_144508.5(KNL1):c.5433A>T (p.Ile1811=)
|
rs200029926
|
0.00022
|
NM_207361.6(FREM2):c.5279C>T (p.Thr1760Met)
|
rs114171443
|
0.00022
|
NM_000260.4(MYO7A):c.6247G>A (p.Ala2083Thr)
|
rs41298759
|
0.00021
|
NM_000334.4(SCN4A):c.1430A>G (p.Lys477Arg)
|
rs182691342
|
0.00021
|
NM_001145809.2(MYH14):c.2645C>T (p.Ala882Val)
|
rs202065396
|
0.00021
|
NM_001184.4(ATR):c.2688G>A (p.Leu896=)
|
rs117926957
|
0.00021
|
NM_001366722.1(GRIP1):c.1688-3T>C
|
rs185129168
|
0.00021
|
NM_004525.3(LRP2):c.3128A>G (p.Tyr1043Cys)
|
rs201299366
|
0.00021
|
NM_004565.3(PEX14):c.400C>G (p.Leu134Val)
|
rs140476337
|
0.00021
|
NM_005708.5(GPC6):c.10T>A (p.Trp4Arg)
|
rs200925249
|
0.00021
|
NM_006005.3(WFS1):c.1309G>A (p.Gly437Ser)
|
rs147974629
|
0.00021
|
NM_006005.3(WFS1):c.1758C>T (p.Ala586=)
|
rs145144527
|
0.00021
|
NM_006005.3(WFS1):c.2012C>T (p.Ala671Val)
|
rs71530907
|
0.00021
|
NM_006208.3(ENPP1):c.2336C>A (p.Thr779Asn)
|
rs200239821
|
0.00021
|
NM_015272.5(RPGRIP1L):c.1960G>A (p.Glu654Lys)
|
rs141979202
|
0.00021
|
NM_015294.6(TRIM37):c.2577-7C>G
|
rs199694001
|
0.00021
|
NM_018451.5(CENPJ):c.2852A>G (p.Gln951Arg)
|
rs138675304
|
0.00021
|
NM_020631.6(PLEKHG5):c.34C>A (p.Pro12Thr)
|
rs140687324
|
0.00021
|
NM_020631.6(PLEKHG5):c.482T>C (p.Met161Thr)
|
rs140817021
|
0.00021
|
NM_025074.7(FRAS1):c.8698G>A (p.Glu2900Lys)
|
rs150998139
|
0.00021
|
NM_052989.3(IFT122):c.1533G>A (p.Leu511=)
|
rs183614690
|
0.00021
|
NM_138691.3(TMC1):c.703G>T (p.Ala235Ser)
|
rs200831684
|
0.00021
|
NM_144508.5(KNL1):c.4000C>T (p.Pro1334Ser)
|
rs148070447
|
0.00021
|
NM_182961.4(SYNE1):c.26298A>G (p.Pro8766=)
|
rs200880341
|
0.00021
|
NM_001692.4(ATP6V1B1):c.40G>A (p.Gly14Ser)
|
rs111306070
|
0.00020
|
NM_003383.5(VLDLR):c.738C>T (p.Cys246=)
|
rs116687040
|
0.00020
|
NM_004525.3(LRP2):c.10768+12C>T
|
rs17848185
|
0.00020
|
NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly)
|
rs117898549
|
0.00020
|
NM_020661.4(AICDA):c.*1704C>T
|
rs557005026
|
0.00020
|
NM_025074.7(FRAS1):c.6530T>C (p.Val2177Ala)
|
rs76345011
|
0.00020
|
NM_033056.4(PCDH15):c.5557A>C (p.Met1853Leu)
|
rs145903555
|
0.00020
|
NM_138691.3(TMC1):c.-124T>C
|
rs533837914
|
0.00020
|
NM_000260.4(MYO7A):c.3858G>A (p.Ala1286=)
|
rs372623270
|
0.00019
|
NM_000260.4(MYO7A):c.5172C>G (p.Pro1724=)
|
rs727505004
|
0.00019
|
NM_000287.4(PEX6):c.2531T>C (p.Val844Ala)
|
rs187435179
|
0.00019
|
NM_000352.6(ABCC8):c.1678G>A (p.Val560Met)
|
rs4148619
|
0.00019
|
NM_001081.4(CUBN):c.5926+5G>A
|
rs143301088
|
0.00019
|
NM_001099287.2(NIPAL4):c.544G>T (p.Val182Phe)
|
rs540992129
|
0.00019
|
NM_002485.5(NBN):c.2220T>C (p.Ala740=)
|
rs147494981
|
0.00019
|
NM_006005.3(WFS1):c.1235T>C (p.Val412Ala)
|
rs144951440
|
0.00019
|
NM_015102.5(NPHP4):c.1120-13G>T
|
rs192450719
|
0.00019
|
NM_017791.3(FLVCR2):c.905C>A (p.Ala302Asp)
|
rs183200579
|
0.00019
|
NM_018136.5(ASPM):c.5224T>C (p.Tyr1742His)
|
rs143733126
|
0.00019
|
NM_025132.4(WDR19):c.1595T>C (p.Ile532Thr)
|
rs749672769
|
0.00019
|
NM_147127.5(EVC2):c.3413C>T (p.Thr1138Met)
|
rs182298453
|
0.00019
|
NM_182961.4(SYNE1):c.18881A>T (p.Gln6294Leu)
|
rs140090745
|
0.00019
|
NM_000260.4(MYO7A):c.813C>T (p.Gly271=)
|
rs781810349
|
0.00018
|
NM_003193.5(TBCE):c.667C>T (p.Arg223Trp)
|
rs75832955
|
0.00018
|
NM_004100.5(EYA4):c.*1350G>A
|
rs553570769
|
0.00018
|
NM_004415.4(DSP):c.269A>G (p.Gln90Arg)
|
rs188516326
|
0.00018
|
NM_005422.4(TECTA):c.3556C>T (p.Arg1186Trp)
|
rs148098950
|
0.00018
|
NM_005522.5(HOXA1):c.*1437A>G
|
rs569968863
|
0.00018
|
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys)
|
rs147834269
|
0.00018
|
NM_025216.3(WNT10A):c.534A>G (p.Gln178=)
|
rs746227205
|
0.00018
|
NM_203486.3(DLL3):c.*38A>G
|
rs200982994
|
0.00018
|
NM_001814.6(CTSC):c.565A>G (p.Thr189Ala)
|
rs200779585
|
0.00017
|
NM_012210.4(TRIM32):c.770C>G (p.Thr257Arg)
|
rs3747834
|
0.00017
|
NM_015102.5(NPHP4):c.2716C>T (p.Arg906Cys)
|
rs199992272
|
0.00017
|
NM_015311.3(OBSL1):c.2012G>A (p.Arg671His)
|
rs147793515
|
0.00017
|
NM_147127.5(EVC2):c.1341C>T (p.Tyr447=)
|
rs186349183
|
0.00017
|
NM_182961.4(SYNE1):c.7713-4T>C
|
rs571742202
|
0.00017
|
NM_001194998.2(CEP152):c.2804A>G (p.Gln935Arg)
|
rs74245641
|
0.00016
|
NM_002473.6(MYH9):c.4956C>T (p.Arg1652=)
|
rs148632964
|
0.00016
|
NM_002857.4(PEX19):c.*169C>T
|
rs192931972
|
0.00016
|
NM_004004.6(GJB2):c.355G>A (p.Glu119Lys)
|
rs150529554
|
0.00016
|
NM_005529.7(HSPG2):c.7438C>T (p.Arg2480Trp)
|
rs143437991
|
0.00016
|
NM_006892.4(DNMT3B):c.1126+15T>C
|
rs150368389
|
0.00016
|
NM_015102.5(NPHP4):c.3777G>A (p.Arg1259=)
|
rs369566680
|
0.00016
|
NM_176824.3(BBS7):c.280A>T (p.Thr94Ser)
|
rs202102193
|
0.00016
|
NM_000271.5(NPC1):c.445G>A (p.Gly149Arg)
|
rs143205855
|
0.00015
|
NM_001023570.4(IQCB1):c.1311A>G (p.Lys437=)
|
rs142536967
|
0.00015
|
NM_002473.6(MYH9):c.2295C>T (p.Ala765=)
|
rs150133983
|
0.00015
|
NM_002473.6(MYH9):c.32A>G (p.Tyr11Cys)
|
rs201415443
|
0.00015
|
NM_004004.6(GJB2):c.241C>G (p.Leu81Val)
|
rs145216882
|
0.00015
|
NM_014028.4(OSTM1):c.198A>G (p.Gly66=)
|
rs565610194
|
0.00015
|
NM_015311.3(OBSL1):c.5308+12T>G
|
rs377219196
|
0.00015
|
NM_000124.4(ERCC6):c.*4208A>G
|
rs182395696
|
0.00014
|
NM_001013693.3(LDLRAD2):c.*83T>G
|
rs529474269
|
0.00014
|
NM_001017420.3(ESCO2):c.147C>G (p.Cys49Trp)
|
rs201989984
|
0.00014
|
NM_001081.4(CUBN):c.*266C>T
|
rs374059721
|
0.00014
|
NM_001081.4(CUBN):c.2138C>T (p.Thr713Met)
|
rs141420691
|
0.00014
|
NM_001081.4(CUBN):c.2922C>T (p.Phe974=)
|
rs201802902
|
0.00014
|
NM_001127453.2(GSDME):c.1183+9A>T
|
rs397516910
|
0.00014
|
NM_001173990.2(TMEM216):c.-86G>A
|
rs188478638
|
0.00014
|
NM_001194998.2(CEP152):c.2777A>T (p.Glu926Val)
|
rs117557829
|
0.00014
|
NM_001378615.1(CC2D2A):c.1830G>A (p.Pro610=)
|
rs185072004
|
0.00014
|
NM_002180.3(IGHMBP2):c.2467C>T (p.Arg823Cys)
|
rs192806153
|
0.00014
|
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn)
|
rs111033188
|
0.00014
|
NM_004415.3(DSP):c.-281C>T
|
rs547069600
|
0.00014
|
NM_004415.4(DSP):c.889G>A (p.Asp297Asn)
|
rs201930322
|
0.00014
|
NM_005529.7(HSPG2):c.7026C>T (p.Pro2342=)
|
rs182418174
|
0.00014
|
NM_005982.4(SIX1):c.*1044G>T
|
rs3742637
|
0.00014
|
NM_012414.4(RAB3GAP2):c.2304G>A (p.Leu768=)
|
rs140146408
|
0.00014
|
NM_014028.4(OSTM1):c.300G>T (p.Gly100=)
|
rs199570880
|
0.00014
|
NM_014363.6(SACS):c.*677C>T
|
rs200375761
|
0.00014
|
NM_015311.3(OBSL1):c.3850G>A (p.Gly1284Ser)
|
rs74589174
|
0.00014
|
NM_018451.5(CENPJ):c.1430C>T (p.Thr477Met)
|
rs193181742
|
0.00014
|
NM_018965.4(TREM2):c.*48A>T
|
rs200820365
|
0.00014
|
NM_022098.4(XPNPEP3):c.*2649A>G
|
rs554227485
|
0.00014
|
NM_022336.4(EDAR):c.68C>T (p.Ser23Leu)
|
rs760731007
|
0.00014
|
NM_025216.3(WNT10A):c.918C>G (p.Asn306Lys)
|
rs745513263
|
0.00014
|
NM_153717.3(EVC):c.2241G>A (p.Ala747=)
|
rs142094016
|
0.00014
|
NM_206933.4(USH2A):c.1608C>T (p.Cys536=)
|
rs187380128
|
0.00014
|
NM_001145809.2(MYH14):c.*81A>G
|
rs772326631
|
0.00013
|
NM_001173990.2(TMEM216):c.-135T>C
|
rs183785901
|
0.00013
|
NM_002180.3(IGHMBP2):c.*860G>A
|
rs149898985
|
0.00013
|
NM_004525.3(LRP2):c.12296-7T>A
|
rs200755164
|
0.00013
|
NM_004560.4(ROR2):c.986G>A (p.Ser329Asn)
|
rs371221714
|
0.00013
|
NM_005219.5(DIAPH1):c.-28G>C
|
rs573787753
|
0.00013
|
NM_005529.7(HSPG2):c.9411C>T (p.Ala3137=)
|
rs533824462
|
0.00013
|
NM_012414.4(RAB3GAP2):c.3143A>G (p.His1048Arg)
|
rs151244742
|
0.00013
|
NM_015046.7(SETX):c.3992C>T (p.Pro1331Leu)
|
rs11243731
|
0.00013
|
NM_020779.4(WDR35):c.2777A>G (p.Tyr926Cys)
|
rs75602337
|
0.00013
|
NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile)
|
rs368828743
|
0.00013
|
NM_000329.3(RPE65):c.441A>G (p.Thr147=)
|
rs185049543
|
0.00012
|
NM_001267550.2(TTN):c.82497C>T (p.Thr27499=)
|
rs199629314
|
0.00012
|
NM_001386140.1(MTTP):c.*468A>C
|
rs556582995
|
0.00012
|
NM_001692.4(ATP6V1B1):c.926A>G (p.Glu309Gly)
|
rs201556073
|
0.00012
|
NM_002473.6(MYH9):c.5709C>T (p.Ala1903=)
|
rs145444485
|
0.00012
|
NM_004004.6(GJB2):c.120A>C (p.Ala40=)
|
rs561870637
|
0.00012
|
NM_005529.7(HSPG2):c.12884G>A (p.Arg4295Gln)
|
rs537908254
|
0.00012
|
NM_025074.7(FRAS1):c.10008G>A (p.Pro3336=)
|
rs76120498
|
0.00012
|
NM_025074.7(FRAS1):c.1255+10T>C
|
rs540508144
|
0.00012
|
NM_182961.4(SYNE1):c.20142C>T (p.Ser6714=)
|
rs201908045
|
0.00012
|
NM_000123.4(ERCC5):c.1563A>G (p.Glu521=)
|
rs4150317
|
0.00011
|
NM_000208.4(INSR):c.*1192G>A
|
rs142596192
|
0.00011
|
NM_000260.4(MYO7A):c.1358G>A (p.Cys453Tyr)
|
rs202080237
|
0.00011
|
NM_000260.4(MYO7A):c.4568+13G>A
|
rs532356676
|
0.00011
|
NM_000271.5(NPC1):c.501A>G (p.Ser167=)
|
rs202148667
|
0.00011
|
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln)
|
rs191969418
|
0.00011
|
NM_000334.4(SCN4A):c.1288A>G (p.Ile430Val)
|
rs149907018
|
0.00011
|
NM_001006657.2(WDR35):c.1215A>G (p.Thr405=)
|
rs144673252
|
0.00011
|
NM_001081.4(CUBN):c.5148C>T (p.Phe1716=)
|
rs370581324
|
0.00011
|
NM_001134831.2(AHI1):c.82C>T (p.Arg28Cys)
|
rs199612496
|
0.00011
|
NM_001378615.1(CC2D2A):c.717+11T>C
|
rs184351317
|
0.00011
|
NM_002485.5(NBN):c.1035C>T (p.Gly345=)
|
rs146605798
|
0.00011
|
NM_003839.4(TNFRSF11A):c.1567+7G>A
|
rs35332936
|
0.00011
|
NM_004100.5(EYA4):c.*2188T>A
|
rs376366555
|
0.00011
|
NM_004525.3(LRP2):c.13359C>T (p.Ser4453=)
|
rs202161925
|
0.00011
|
NM_004560.4(ROR2):c.2466C>T (p.Asn822=)
|
rs146432734
|
0.00011
|
NM_005982.4(SIX1):c.180C>G (p.Arg60=)
|
rs781519092
|
0.00011
|
NM_006005.3(WFS1):c.985T>A (p.Phe329Ile)
|
rs188848517
|
0.00011
|
NM_014053.4(FLVCR1):c.*2887C>T
|
rs186854246
|
0.00011
|
NM_017791.3(FLVCR2):c.727C>T (p.Arg243Trp)
|
rs146668840
|
0.00011
|
NM_018451.5(CENPJ):c.*890T>C
|
rs17480581
|
0.00011
|
NM_020631.6(PLEKHG5):c.2164G>A (p.Glu722Lys)
|
rs201551894
|
0.00011
|
NM_021252.5(RAB18):c.*170T>C
|
rs567179590
|
0.00011
|
NM_025132.4(WDR19):c.3027C>T (p.Asp1009=)
|
rs181975379
|
0.00011
|
NM_025132.4(WDR19):c.6+5A>G
|
rs201198839
|
0.00011
|
NM_033064.5(ATCAY):c.*3376C>T
|
rs76339349
|
0.00011
|
NM_153717.3(EVC):c.982C>T (p.Leu328Phe)
|
rs199916502
|
0.00011
|
NM_182961.4(SYNE1):c.10105A>G (p.Met3369Val)
|
rs199668467
|
0.00011
|
NM_182961.4(SYNE1):c.20289A>G (p.Ser6763=)
|
rs142327194
|
0.00011
|
NM_182961.4(SYNE1):c.7175T>C (p.Val2392Ala)
|
rs199558070
|
0.00011
|
NM_182961.4(SYNE1):c.8005-3C>T
|
rs117084693
|
0.00011
|
NM_182961.4(SYNE1):c.8557A>G (p.Thr2853Ala)
|
rs77853132
|
0.00011
|
NM_206933.4(USH2A):c.1935A>T (p.Thr645=)
|
rs146670690
|
0.00011
|
NM_000784.4(CYP27A1):c.256G>A (p.Val86Met)
|
rs200604732
|
0.00010
|
NM_001081.4(CUBN):c.10759G>A (p.Gly3587Arg)
|
rs201484266
|
0.00010
|
NM_001194998.2(CEP152):c.5078C>T (p.Pro1693Leu)
|
rs368764302
|
0.00010
|
NM_001378615.1(CC2D2A):c.2117G>A (p.Arg706Gln)
|
rs778205727
|
0.00010
|
NM_004004.6(GJB2):c.37G>A (p.Val13Met)
|
rs768130937
|
0.00010
|
NM_004415.4(DSP):c.5304G>C (p.Gly1768=)
|
rs530612211
|
0.00010
|
NM_004415.4(DSP):c.7278T>C (p.Tyr2426=)
|
rs78843072
|
0.00010
|
NM_006005.3(WFS1):c.695G>A (p.Arg232His)
|
rs375904080
|
0.00010
|
NM_012233.3(RAB3GAP1):c.*170C>T
|
rs180839370
|
0.00010
|
NM_022124.6(CDH23):c.3480G>T (p.Met1160Ile)
|
rs111033519
|
0.00010
|
NM_022124.6(CDH23):c.6197G>A (p.Arg2066Gln)
|
rs201887949
|
0.00010
|
NM_133379.5(TTN):c.16001C>T (p.Pro5334Leu)
|
rs151253841
|
0.00010
|
NM_138691.3(TMC1):c.1609G>A (p.Val537Ile)
|
rs150206751
|
0.00010
|
NM_182961.4(SYNE1):c.1729+14C>T
|
rs76417048
|
0.00010
|
NM_000057.4(BLM):c.2293G>A (p.Val765Ile)
|
rs191789336
|
0.00009
|
NM_000329.3(RPE65):c.295G>A (p.Val99Ile)
|
rs143056561
|
0.00009
|
NM_000782.5(CYP24A1):c.150C>T (p.Gly50=)
|
rs566481776
|
0.00009
|
NM_001134831.2(AHI1):c.2945G>T (p.Arg982Met)
|
rs370400336
|
0.00009
|
NM_001134831.2(AHI1):c.653A>G (p.Tyr218Cys)
|
rs183936286
|
0.00009
|
NM_001145809.2(MYH14):c.2544C>T (p.Ile848=)
|
rs761170226
|
0.00009
|
NM_001145809.2(MYH14):c.5447G>A (p.Arg1816His)
|
rs201923258
|
0.00009
|
NM_001173990.2(TMEM216):c.-91G>A
|
rs557559653
|
0.00009
|
NM_001194998.2(CEP152):c.*255T>C
|
rs187213125
|
0.00009
|
NM_001267550.2(TTN):c.17183-7C>T
|
rs371785683
|
0.00009
|
NM_001378615.1(CC2D2A):c.3872T>C (p.Ile1291Thr)
|
rs370492044
|
0.00009
|
NM_001378615.1(CC2D2A):c.922T>C (p.Phe308Leu)
|
rs201465430
|
0.00009
|
NM_001386140.1(MTTP):c.124G>A (p.Val42Ile)
|
rs756998920
|
0.00009
|
NM_002180.3(IGHMBP2):c.*417C>A
|
rs117542830
|
0.00009
|
NM_002635.4(SLC25A3):c.471T>C (p.Tyr157=)
|
rs531425336
|
0.00009
|
NM_004415.4(DSP):c.5513G>A (p.Arg1838His)
|
rs377715841
|
0.00009
|
NM_004525.3(LRP2):c.*739C>G
|
rs193064620
|
0.00009
|
NM_004525.3(LRP2):c.12296-4G>A
|
rs375166826
|
0.00009
|
NM_004560.4(ROR2):c.744G>A (p.Pro248=)
|
rs757948078
|
0.00009
|
NM_005422.4(TECTA):c.4163G>A (p.Arg1388His)
|
rs150016625
|
0.00009
|
NM_005422.4(TECTA):c.65-14A>G
|
rs201171064
|
0.00009
|
NM_005529.7(HSPG2):c.3197G>A (p.Arg1066Gln)
|
rs537872144
|
0.00009
|
NM_006005.3(WFS1):c.1871T>C (p.Val624Ala)
|
rs747477628
|
0.00009
|
NM_015311.3(OBSL1):c.3839G>A (p.Arg1280Gln)
|
rs77287119
|
0.00009
|
NM_016219.5(MAN1B1):c.621-5C>T
|
rs200585294
|
0.00009
|
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro)
|
rs193251130
|
0.00009
|
NM_021830.5(TWNK):c.2050A>C (p.Lys684Gln)
|
rs369223258
|
0.00009
|
NM_022124.6(CDH23):c.5026G>A (p.Ala1676Thr)
|
rs56043301
|
0.00009
|
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp)
|
rs149242794
|
0.00009
|
NM_025074.7(FRAS1):c.10425C>T (p.His3475=)
|
rs376096303
|
0.00009
|
NM_138691.3(TMC1):c.760G>A (p.Val254Ile)
|
rs111033497
|
0.00009
|
NM_139319.3(SLC17A8):c.*1839A>G
|
rs372482024
|
0.00009
|
NM_147127.5(EVC2):c.3382C>A (p.Leu1128Met)
|
rs200105743
|
0.00009
|
NM_198428.3(BBS9):c.678A>G (p.Lys226=)
|
rs201231133
|
0.00009
|
NM_001146079.2(CLDN14):c.369C>A (p.Thr123=)
|
rs727502938
|
0.00008
|
NM_001267550.2(TTN):c.57112-4C>T
|
rs117072049
|
0.00008
|
NM_005422.4(TECTA):c.3511G>A (p.Val1171Met)
|
rs186780639
|
0.00008
|
NM_006019.4(TCIRG1):c.826C>T (p.Arg276Trp)
|
rs543099977
|
0.00008
|
NM_012463.4(ATP6V0A2):c.1698A>G (p.Gly566=)
|
rs2271659
|
0.00008
|
NM_015046.7(SETX):c.3103A>G (p.Lys1035Glu)
|
rs117229601
|
0.00008
|
NM_015311.3(OBSL1):c.397G>C (p.Gly133Arg)
|
rs556207267
|
0.00008
|
NM_025216.3(WNT10A):c.*128T>C
|
rs1054630
|
0.00008
|
NM_153717.3(EVC):c.1564-6C>T
|
rs188245524
|
0.00008
|
NM_000057.4(BLM):c.178T>A (p.Leu60Ile)
|
rs138542210
|
0.00007
|
NM_000124.4(ERCC6):c.379G>A (p.Val127Ile)
|
rs116275562
|
0.00007
|
NM_000277.3(PAH):c.*144A>G
|
rs375319584
|
0.00007
|
NM_000382.3(ALDH3A2):c.1373G>A (p.Arg458Gln)
|
rs144190241
|
0.00007
|
NM_001184.4(ATR):c.7667C>G (p.Thr2556Ser)
|
rs200490116
|
0.00007
|
NM_003896.4(ST3GAL5):c.*115C>T
|
rs193077813
|
0.00007
|
NM_004560.4(ROR2):c.935G>A (p.Arg312His)
|
rs188376581
|
0.00007
|
NM_014780.5(CUL7):c.2603A>G (p.Asn868Ser)
|
rs149360738
|
0.00007
|
NM_015046.7(SETX):c.4204A>T (p.Thr1402Ser)
|
rs150421712
|
0.00007
|
NM_015311.3(OBSL1):c.-12T>C
|
rs781320979
|
0.00007
|
NM_018718.3(CEP41):c.*1336A>G
|
rs781954428
|
0.00007
|
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp)
|
rs140236736
|
0.00007
|
NM_174878.3(CLRN1):c.*1330T>C
|
rs374292166
|
0.00007
|
NM_182961.4(SYNE1):c.15469G>A (p.Glu5157Lys)
|
rs187403476
|
0.00007
|
NM_182961.4(SYNE1):c.3934G>A (p.Glu1312Lys)
|
rs200276242
|
0.00007
|
NM_000288.4(PEX7):c.*115A>G
|
rs41288967
|
0.00006
|
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln)
|
rs146378237
|
0.00006
|
NM_000352.6(ABCC8):c.2422C>A (p.Gln808Lys)
|
rs202189540
|
0.00006
|
NM_001023570.4(IQCB1):c.1509C>G (p.Ala503=)
|
rs149259534
|
0.00006
|
NM_001098484.3(SLC4A4):c.1297T>C (p.Cys433Arg)
|
rs771339934
|
0.00006
|
NM_001127453.2(GSDME):c.576+13G>A
|
rs367730024
|
0.00006
|
NM_001127649.3(PEX26):c.*566T>C
|
rs541332240
|
0.00006
|
NM_001127671.2(LIFR):c.*3851T>A
|
rs78474283
|
0.00006
|
NM_001145809.2(MYH14):c.2334C>A (p.Leu778=)
|
rs190941610
|
0.00006
|
NM_001145809.2(MYH14):c.3172-12T>C
|
rs374486787
|
0.00006
|
NM_001145809.2(MYH14):c.565C>T (p.Arg189Cys)
|
rs200818171
|
0.00006
|
NM_001267550.2(TTN):c.22077A>T (p.Gly7359=)
|
rs202102237
|
0.00006
|
NM_002241.5(KCNJ10):c.1047C>T (p.Tyr349=)
|
rs368537434
|
0.00006
|
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)
|
rs376898963
|
0.00006
|
NM_004415.4(DSP):c.7548G>A (p.Arg2516=)
|
rs756527780
|
0.00006
|
NM_004836.7(EIF2AK3):c.236C>T (p.Pro79Leu)
|
rs539891019
|
0.00006
|
NM_005219.5(DIAPH1):c.-49A>C
|
rs570498572
|
0.00006
|
NM_006005.3(WFS1):c.1392C>T (p.Thr464=)
|
rs565697340
|
0.00006
|
NM_012463.4(ATP6V0A2):c.*2485C>T
|
rs144043973
|
0.00006
|
NM_015046.7(SETX):c.1880T>C (p.Met627Thr)
|
rs199707503
|
0.00006
|
NM_016219.5(MAN1B1):c.1445+10G>A
|
rs200441545
|
0.00006
|
NM_022124.6(CDH23):c.8401T>G (p.Phe2801Val)
|
rs3802707
|
0.00006
|
NM_022336.4(EDAR):c.224C>T (p.Pro75Leu)
|
rs748806220
|
0.00006
|
NM_025074.7(FRAS1):c.10852A>G (p.Thr3618Ala)
|
rs192225415
|
0.00006
|
NM_080628.3(TLDC2):c.*18-50G>A
|
rs188941712
|
0.00006
|
NM_170707.4(LMNA):c.1149G>A (p.Glu383=)
|
rs267607603
|
0.00006
|
NM_182961.4(SYNE1):c.310-468G>A
|
rs143635963
|
0.00006
|
NM_194248.3(OTOF):c.2452C>T (p.Arg818Trp)
|
rs2272070
|
0.00006
|
NM_207361.6(FREM2):c.1647C>A (p.Phe549Leu)
|
rs114341997
|
0.00006
|
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg)
|
rs184492796
|
0.00005
|
NM_001048166.1(STIL):c.3515C>T (p.Ser1172Phe)
|
rs550062989
|
0.00005
|
NM_001127453.2(GSDME):c.*429T>C
|
rs538502935
|
0.00005
|
NM_001127453.2(GSDME):c.584C>T (p.Ala195Val)
|
rs534396774
|
0.00005
|
NM_001267550.2(TTN):c.72113C>T (p.Thr24038Met)
|
rs370375696
|
0.00005
|
NM_002473.6(MYH9):c.2635A>C (p.Met879Leu)
|
rs200328859
|
0.00005
|
NM_002473.6(MYH9):c.933C>T (p.Pro311=)
|
rs202045249
|
0.00005
|
NM_004525.3(LRP2):c.8228C>T (p.Pro2743Leu)
|
rs545645633
|
0.00005
|
NM_004560.4(ROR2):c.*521G>A
|
rs147339603
|
0.00005
|
NM_004560.4(ROR2):c.1712A>G (p.His571Arg)
|
rs376970201
|
0.00005
|
NM_005982.4(SIX1):c.-24C>T
|
rs201700039
|
0.00005
|
NM_022336.4(EDAR):c.675G>A (p.Pro225=)
|
rs746044070
|
0.00005
|
NM_024649.5(BBS1):c.1036G>A (p.Val346Ile)
|
rs201872547
|
0.00005
|
NM_033064.5(ATCAY):c.*309C>T
|
rs541933098
|
0.00005
|
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys)
|
rs372710475
|
0.00005
|
NM_170707.4(LMNA):c.1488G>A (p.Thr496=)
|
rs375516745
|
0.00005
|
NM_000260.4(MYO7A):c.1797+13C>T
|
rs782461418
|
0.00004
|
NM_000260.4(MYO7A):c.2489G>A (p.Arg830His)
|
rs371029653
|
0.00004
|
NM_000260.4(MYO7A):c.2507G>A (p.Arg836His)
|
rs782179888
|
0.00004
|
NM_000352.6(ABCC8):c.2500C>T (p.Arg834Cys)
|
rs140068774
|
0.00004
|
NM_000557.5(GDF5):c.*387T>C
|
rs553655935
|
0.00004
|
NM_000557.5(GDF5):c.*389C>T
|
rs535023630
|
0.00004
|
NM_000782.5(CYP24A1):c.1020C>T (p.Tyr340=)
|
rs77764129
|
0.00004
|
NM_001127453.2(GSDME):c.906G>A (p.Leu302=)
|
rs141596134
|
0.00004
|
NM_001127671.2(LIFR):c.2497+14T>G
|
rs541984532
|
0.00004
|
NM_001145809.2(MYH14):c.263G>A (p.Arg88Gln)
|
rs185910660
|
0.00004
|
NM_001160372.4(TRAPPC9):c.2811-4G>A
|
rs374826041
|
0.00004
|
NM_001267550.2(TTN):c.24227-15C>T
|
rs397517505
|
0.00004
|
NM_001267550.2(TTN):c.58426G>A (p.Val19476Ile)
|
rs397517636
|
0.00004
|
NM_002180.3(IGHMBP2):c.2883G>A (p.Leu961=)
|
rs3750977
|
0.00004
|
NM_002241.5(KCNJ10):c.-43G>A
|
rs372841245
|
0.00004
|
NM_002473.6(MYH9):c.3320G>A (p.Arg1107Gln)
|
rs137924205
|
0.00004
|
NM_004100.5(EYA4):c.*2359C>T
|
rs547907467
|
0.00004
|
NM_004415.4(DSP):c.4752G>A (p.Ala1584=)
|
rs201213622
|
0.00004
|
NM_005219.5(DIAPH1):c.*755T>C
|
rs561468918
|
0.00004
|
NM_006005.3(WFS1):c.375C>T (p.Thr125=)
|
rs762324196
|
0.00004
|
NM_015102.5(NPHP4):c.1764-5C>T
|
rs370899989
|
0.00004
|
NM_015311.3(OBSL1):c.3304C>T (p.Arg1102Cys)
|
rs562419349
|
0.00004
|
NM_015404.4(WHRN):c.933A>C (p.Pro311=)
|
rs569159249
|
0.00004
|
NM_016464.5(TMEM138):c.387G>A (p.Leu129=)
|
rs553815473
|
0.00004
|
NM_017777.4(MKS1):c.1014G>A (p.Leu338=)
|
rs201998680
|
0.00004
|
NM_020631.6(PLEKHG5):c.2485G>T (p.Asp829Tyr)
|
rs200162521
|
0.00004
|
NM_022336.4(EDAR):c.156G>A (p.Pro52=)
|
rs3749101
|
0.00004
|
NM_022336.4(EDAR):c.463G>A (p.Ala155Thr)
|
rs370972367
|
0.00004
|
NM_000067.3(CA2):c.648C>T (p.Ser216=)
|
rs376387073
|
0.00003
|
NM_000208.4(INSR):c.*2014C>T
|
rs556567528
|
0.00003
|
NM_000260.4(MYO7A):c.1368C>T (p.Phe456=)
|
rs559209306
|
0.00003
|
NM_000260.4(MYO7A):c.3662C>G (p.Pro1221Arg)
|
rs780594308
|
0.00003
|
NM_000260.4(MYO7A):c.397C>A (p.His133Asn)
|
rs111033403
|
0.00003
|
NM_000302.4(PLOD1):c.2075C>T (p.Pro692Leu)
|
rs557317492
|
0.00003
|
NM_000334.4(SCN4A):c.5191G>A (p.Ala1731Thr)
|
rs371104286
|
0.00003
|
NM_001081.4(CUBN):c.*380T>C
|
rs188873973
|
0.00003
|
NM_001145809.2(MYH14):c.4903G>A (p.Glu1635Lys)
|
rs140157424
|
0.00003
|
NM_001394148.2(LOC128706665):c.-22+2430T>G
|
rs377246386
|
0.00003
|
NM_002473.6(MYH9):c.3606G>A (p.Ala1202=)
|
rs771461880
|
0.00003
|
NM_004086.3(COCH):c.1436A>T (p.Tyr479Phe)
|
rs757904271
|
0.00003
|
NM_004415.4(DSP):c.3650C>T (p.Thr1217Met)
|
rs535202724
|
0.00003
|
NM_004415.4(DSP):c.4741A>G (p.Lys1581Glu)
|
rs186842903
|
0.00003
|
NM_004937.3(CTNS):c.*180C>T
|
rs552754402
|
0.00003
|
NM_005422.4(TECTA):c.1794G>C (p.Pro598=)
|
rs570667892
|
0.00003
|
NM_005529.7(HSPG2):c.2034G>T (p.Gln678His)
|
rs375600124
|
0.00003
|
NM_017791.3(FLVCR2):c.*1319C>T
|
rs541678412
|
0.00003
|
NM_022124.6(CDH23):c.5660C>T (p.Thr1887Ile)
|
rs397517340
|
0.00003
|
NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly)
|
rs188966938
|
0.00003
|
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu)
|
rs576113399
|
0.00003
|
NM_025216.3(WNT10A):c.420C>T (p.Gly140=)
|
rs148979463
|
0.00003
|
NM_138691.3(TMC1):c.*26G>C
|
rs191962062
|
0.00003
|
NM_145861.4(EDARADD):c.600C>T (p.Asp200=)
|
rs74942492
|
0.00003
|
NM_198428.3(BBS9):c.1606C>T (p.Leu536=)
|
rs576401162
|
0.00003
|
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala)
|
rs372081834
|
0.00003
|
NM_207361.6(FREM2):c.1250T>C (p.Leu417Pro)
|
rs571694324
|
0.00003
|
NM_207361.6(FREM2):c.335A>G (p.Asn112Ser)
|
rs767098305
|
0.00003
|
NM_000162.5(GCK):c.-452G>A
|
rs187173652
|
0.00002
|
NM_000163.5(GHR):c.206C>T (p.Thr69Ile)
|
rs75028043
|
0.00002
|
NM_000260.4(MYO7A):c.4577G>A (p.Arg1526His)
|
rs397516311
|
0.00002
|
NM_001267550.2(TTN):c.22966A>G (p.Asn7656Asp)
|
rs184123332
|
0.00002
|
NM_001267550.2(TTN):c.24075T>G (p.Ile8025Met)
|
rs371496970
|
0.00002
|
NM_001366722.1(GRIP1):c.1389G>A (p.Gly463=)
|
rs200499586
|
0.00002
|
NM_002292.4(LAMB2):c.250-14C>T
|
rs371403310
|
0.00002
|
NM_002473.6(MYH9):c.318C>T (p.Tyr106=)
|
rs202117532
|
0.00002
|
NM_004004.6(GJB2):c.510C>T (p.Asn170=)
|
rs763068053
|
0.00002
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
NM_012233.3(RAB3GAP1):c.267G>A (p.Lys89=)
|
rs757292994
|
0.00002
|
NM_015665.6(AAAS):c.234G>A (p.Lys78=)
|
rs145519240
|
0.00002
|
NM_018136.5(ASPM):c.8203T>G (p.Phe2735Val)
|
rs372416792
|
0.00002
|
NM_020631.6(PLEKHG5):c.440-10C>T
|
rs201656051
|
0.00002
|
NM_022124.6(CDH23):c.4589C>T (p.Pro1530Leu)
|
rs554938323
|
0.00002
|
NM_025074.7(FRAS1):c.*391C>T
|
rs564787250
|
0.00002
|
NM_025074.7(FRAS1):c.11695C>T (p.Leu3899=)
|
rs367723684
|
0.00002
|
NM_138691.3(TMC1):c.2275C>T (p.Arg759Cys)
|
rs142073640
|
0.00002
|
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln)
|
rs373718642
|
0.00002
|
NM_170707.4(LMNA):c.1698+57G>A
|
rs557334569
|
0.00002
|
NM_000123.4(ERCC5):c.1926A>G (p.Glu642=)
|
rs575691378
|
0.00001
|
NM_000123.4(ERCC5):c.2890C>T (p.Arg964Trp)
|
rs574826021
|
0.00001
|
NM_000123.4(ERCC5):c.76A>G (p.Ile26Val)
|
rs371937705
|
0.00001
|
NM_000162.5(GCK):c.*297T>G
|
rs527259972
|
0.00001
|
NM_000208.4(INSR):c.2572A>G (p.Thr858Ala)
|
rs182552223
|
0.00001
|
NM_000208.4(INSR):c.4082A>G (p.Tyr1361Cys)
|
rs13306449
|
0.00001
|
NM_000260.4(MYO7A):c.2697G>A (p.Glu899=)
|
rs782531164
|
0.00001
|
NM_000317.3(PTS):c.121G>A (p.Gly41Arg)
|
rs372852903
|
0.00001
|
NM_000352.6(ABCC8):c.3558-8C>T
|
rs544550330
|
0.00001
|
NM_000352.6(ABCC8):c.3989-10C>T
|
rs373737642
|
0.00001
|
NM_000360.4(TH):c.5C>T (p.Pro2Leu)
|
rs139474171
|
0.00001
|
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe)
|
rs200652683
|
0.00001
|
NM_001017420.3(ESCO2):c.867A>G (p.Ser289=)
|
rs535236969
|
0.00001
|
NM_001083961.2(WDR62):c.4033C>T (p.Arg1345Cys)
|
rs201363122
|
0.00001
|
NM_001098484.3(SLC4A4):c.*4028A>G
|
rs565713938
|
0.00001
|
NM_001128178.3(NPHP1):c.-17G>A
|
rs566875282
|
0.00001
|
NM_001128178.3(NPHP1):c.438T>C (p.Asn146=)
|
rs548684868
|
0.00001
|
NM_001145809.2(MYH14):c.3303A>G (p.Leu1101=)
|
rs543799021
|
0.00001
|
NM_001267550.2(TTN):c.67960G>C (p.Asp22654His)
|
rs144295295
|
0.00001
|
NM_001267550.2(TTN):c.72105T>C (p.Phe24035=)
|
rs397517691
|
0.00001
|
NM_001267550.2(TTN):c.87600G>C (p.Met29200Ile)
|
rs750362675
|
0.00001
|
NM_001267550.2(TTN):c.89989T>A (p.Leu29997Met)
|
rs369855092
|
0.00001
|
NM_001366722.1(GRIP1):c.*499A>G
|
rs572566894
|
0.00001
|
NM_001378454.1(ALMS1):c.1865A>G (p.Tyr622Cys)
|
rs193922693
|
0.00001
|
NM_002292.4(LAMB2):c.3071C>T (p.Pro1024Leu)
|
rs368506627
|
0.00001
|
NM_003619.4(PRSS12):c.-10C>T
|
rs559605488
|
0.00001
|
NM_003839.4(TNFRSF11A):c.*2086G>A
|
rs528958493
|
0.00001
|
NM_003896.4(ST3GAL5):c.84A>C (p.Ala28=)
|
rs530496667
|
0.00001
|
NM_004004.6(GJB2):c.546G>A (p.Val182=)
|
rs752236261
|
0.00001
|
NM_004086.3(COCH):c.615C>T (p.Gly205=)
|
rs548387738
|
0.00001
|
NM_004100.5(EYA4):c.*1820A>T
|
rs184735364
|
0.00001
|
NM_004415.4(DSP):c.5593A>T (p.Asn1865Tyr)
|
rs562015789
|
0.00001
|
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His)
|
rs201397978
|
0.00001
|
NM_004525.3(LRP2):c.11244C>T (p.Asn3748=)
|
rs542010522
|
0.00001
|
NM_004525.3(LRP2):c.9342C>T (p.Cys3114=)
|
rs199803029
|
0.00001
|
NM_004836.7(EIF2AK3):c.1307-4T>G
|
rs548802949
|
0.00001
|
NM_005219.5(DIAPH1):c.*325G>C
|
rs558843739
|
0.00001
|
NM_005422.4(TECTA):c.5205C>T (p.Ala1735=)
|
rs762504147
|
0.00001
|
NM_005422.4(TECTA):c.5908G>A (p.Ala1970Thr)
|
rs202079138
|
0.00001
|
NM_005422.4(TECTA):c.805C>G (p.Arg269Gly)
|
rs777704329
|
0.00001
|
NM_005529.7(HSPG2):c.6105G>A (p.Gln2035=)
|
rs371397998
|
0.00001
|
NM_006005.3(WFS1):c.1234G>C (p.Val412Leu)
|
rs149865710
|
0.00001
|
NM_006208.3(ENPP1):c.1791T>C (p.Asn597=)
|
rs548504035
|
0.00001
|
NM_006721.4(ADK):c.66-24289G>A
|
rs571962706
|
0.00001
|
NM_012414.4(RAB3GAP2):c.*572G>T
|
rs540128548
|
0.00001
|
NM_012463.4(ATP6V0A2):c.*2085C>G
|
rs185883563
|
0.00001
|
NM_012463.4(ATP6V0A2):c.2294-4G>A
|
rs551697992
|
0.00001
|
NM_014425.5(INVS):c.3027C>T (p.His1009=)
|
rs201136636
|
0.00001
|
NM_015046.7(SETX):c.*2232T>C
|
rs545456048
|
0.00001
|
NM_015102.5(NPHP4):c.3645-15C>T
|
rs558429618
|
0.00001
|
NM_015294.6(TRIM37):c.*658A>G
|
rs553012670
|
0.00001
|
NM_015404.4(WHRN):c.*37C>G
|
rs549195233
|
0.00001
|
NM_015404.4(WHRN):c.*51C>T
|
rs529176890
|
0.00001
|
NM_021830.5(TWNK):c.1172G>A (p.Arg391His)
|
rs556445621
|
0.00001
|
NM_024570.4(RNASEH2B):c.895A>G (p.Thr299Ala)
|
rs370507842
|
0.00001
|
NM_025074.7(FRAS1):c.*1085C>T
|
rs570309641
|
0.00001
|
NM_025074.7(FRAS1):c.8486C>A (p.Ser2829Tyr)
|
rs376788346
|
0.00001
|
NM_025114.4(CEP290):c.2873C>T (p.Ser958Phe)
|
rs546463648
|
0.00001
|
NM_025216.3(WNT10A):c.*275C>T
|
rs182186187
|
0.00001
|
NM_031885.3(BBS2):c.-199A>T
|
rs569642995
|
0.00001
|
NM_031885.5(BBS2):c.1134A>G (p.Pro378=)
|
rs185178790
|
0.00001
|
NM_032119.4(ADGRV1):c.13654-5C>T
|
rs367554300
|
0.00001
|
NM_033028.5(BBS4):c.*522A>G
|
rs531501103
|
0.00001
|
NM_138694.4(PKHD1):c.*1559T>C
|
rs546309551
|
0.00001
|
NM_138694.4(PKHD1):c.*2086A>G
|
rs569538414
|
0.00001
|
NM_138694.4(PKHD1):c.*2201G>A
|
rs535226662
|
0.00001
|
NM_138694.4(PKHD1):c.7482A>T (p.Gly2494=)
|
rs199996156
|
0.00001
|
NM_145861.4(EDARADD):c.115A>G (p.Asn39Asp)
|
rs759461234
|
0.00001
|
NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys)
|
rs555666020
|
0.00001
|
NM_153676.4(USH1C):c.*131G>C
|
rs550402400
|
0.00001
|
NM_182961.4(SYNE1):c.7611G>T (p.Arg2537Ser)
|
rs568309673
|
0.00001
|
NM_207361.6(FREM2):c.4990G>A (p.Ala1664Thr)
|
rs546732114
|
0.00001
|
NM_207361.6(FREM2):c.9282A>C (p.Pro3094=)
|
rs549071375
|
0.00001
|
NM_000019.4(ACAT1):c.*6dup
|
rs111390656
|
|
NM_000082.4(ERCC8):c.1105G>C (p.Val369Leu)
|
rs543291626
|
|
NM_000124.4(ERCC6):c.*2337A>C
|
rs557944846
|
|
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg)
|
rs4253208
|
|
NM_000163.5(GHR):c.-150C>A
|
rs368929640
|
|
NM_000208.4(INSR):c.*130A>T
|
rs571448308
|
|
NM_000208.4(INSR):c.*3365C>A
|
rs561270909
|
|
NM_000208.4(INSR):c.489C>A (p.Ile163=)
|
rs530955658
|
|
NM_000211.5(ITGB2):c.*289A>G
|
rs541047362
|
|
NM_000211.5(ITGB2):c.*349del
|
rs145404701
|
|
NM_000231.3(SGCG):c.*136T>C
|
rs3751372
|
|
NM_000243.3(MEFV):c.*466_*468del
|
rs61379197
|
|
NM_000260.4(MYO7A):c.*416C>T
|
rs549702559
|
|
NM_000260.4(MYO7A):c.133-7C>T
|
rs111033221
|
|
NM_000260.4(MYO7A):c.1543A>C (p.Lys515Gln)
|
rs782023308
|
|
NM_000260.4(MYO7A):c.2447G>A (p.Arg816His)
|
rs148343670
|
|
NM_000260.4(MYO7A):c.4153-8C>T
|
rs143216377
|
|
NM_000260.4(MYO7A):c.4568+12C>G
|
rs72933642
|
|
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp)
|
rs111033287
|
|
NM_000260.4(MYO7A):c.5598C>A (p.Leu1866=)
|
rs111033504
|
|
NM_000260.4(MYO7A):c.5598C>T (p.Leu1866=)
|
rs111033504
|
|
NM_000260.4(MYO7A):c.6559-11C>T
|
rs34517202
|
|
NM_000260.4(MYO7A):c.93C>T (p.Cys31=)
|
rs35689081
|
|
NM_000271.5(NPC1):c.1947+10G>C
|
rs71534236
|
|
NM_000277.2(PAH):c.-224G>A
|
rs886048892
|
|
NM_000277.2(PAH):c.-460delG
|
rs113191080
|
|
NM_000286.3(PEX12):c.*550_*552del
|
rs147182821
|
|
NM_000286.3(PEX12):c.*569_*570del
|
rs3031851
|
|
NM_000287.4(PEX6):c.1234-8_1234-7dup
|
rs200121485
|
|
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn)
|
rs142978362
|
|
NM_000318.3(PEX2):c.*103C>G
|
rs529963492
|
|
NM_000320.3(QDPR):c.-24G>T
|
rs529698353
|
|
NM_000329.3(RPE65):c.1302G>A (p.Ala434=)
|
rs62636301
|
|
NM_000329.3(RPE65):c.1302G>C (p.Ala434=)
|
rs62636301
|
|
NM_000352.6(ABCC8):c.3435C>T (p.Ser1145=)
|
rs371089976
|
|
NM_000370.3(TTPA):c.*932G>A
|
rs547975805
|
|
NM_000382.3(ALDH3A2):c.*292G>T
|
|
|
NM_000382.3(ALDH3A2):c.*847C>T
|
|
|
NM_000382.3(ALDH3A2):c.-149C>G
|
|
|
NM_000382.3(ALDH3A2):c.386-6A>G
|
rs117330764
|
|
NM_000384.3(APOB):c.6936_6937inv (p.Ile2313Val)
|
|
|
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr)
|
rs28943591
|
|
NM_000441.2(SLC26A4):c.-66C>G
|
rs17154282
|
|
NM_000492.3(CFTR):c.1210-12T[5]
|
rs1805177
|
|
NM_000492.3(CFTR):c.1210-12T[9]
|
rs1805177
|
|
NM_000492.4(CFTR):c.*133del
|
rs145697705
|
|
NM_000525.4(KCNJ11):c.-559G>C
|
rs547932593
|
|
NM_000553.5(WRN):c.-631G>C
|
rs10112017
|
|
NM_000554.6(CRX):c.*1654dup
|
rs138321430
|
|
NM_000557.5(GDF5):c.1000C>G (p.Arg334Gly)
|
rs140895068
|
|
NM_000751.3(CHRND):c.*547G>C
|
rs2343841
|
|
NM_000784.4(CYP27A1):c.1471G>T (p.Ala491Ser)
|
rs72551323
|
|
NM_000784.4(CYP27A1):c.506C>T (p.Ala169Val)
|
rs59443548
|
|
NM_001009894.3(RLIG1):c.*743_*746del
|
rs142288119
|
|
NM_001013693.3(LDLRAD2):c.*276C>G
|
rs151090850
|
|
NM_001017420.3(ESCO2):c.*397A>G
|
rs529251667
|
|
NM_001039958.2(MESP2):c.498C>G (p.Pro166=)
|
rs200336355
|
|
NM_001039958.2(MESP2):c.517G>A (p.Ala173Thr)
|
rs374604155
|
|
NM_001044385.3(TMEM237):c.*2142G>C
|
rs76042698
|
|
NM_001044385.3(TMEM237):c.-25G>A
|
rs568671275
|
|
NM_001081.4(CUBN):c.*330G>A
|
rs181630914
|
|
NM_001081.4(CUBN):c.*330G>C
|
rs181630914
|
|
NM_001081.4(CUBN):c.*420C>T
|
rs182278265
|
|
NM_001081.4(CUBN):c.6276C>T (p.Cys2092=)
|
rs146319349
|
|
NM_001083961.2(WDR62):c.1233+15C>A
|
rs554017479
|
|
NM_001098484.3(SLC4A4):c.*58del
|
rs796456055
|
|
NM_001099287.2(NIPAL4):c.*405GTT[6]
|
rs527401652
|
|
NM_001103146.3(GIGYF2):c.533-10649_533-10648del
|
rs5839447
|
|
NM_001127453.2(GSDME):c.*81T>G
|
rs541774350
|
|
NM_001127453.2(GSDME):c.939C>T (p.Ile313=)
|
rs556679282
|
|
NM_001127649.3(PEX26):c.*1740C>G
|
rs139987168
|
|
NM_001127649.3(PEX26):c.*2703G>A
|
rs186314626
|
|
NM_001127671.2(LIFR):c.*4154A>G
|
rs73077448
|
|
NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys)
|
rs3729751
|
|
NM_001134831.2(AHI1):c.2567C>G (p.Thr856Ser)
|
rs199736888
|
|
NM_001145809.2(MYH14):c.5041G>A (p.Glu1681Lys)
|
rs556548077
|
|
NM_001145809.2(MYH14):c.5384G>T (p.Arg1795Leu)
|
rs567922009
|
|
NM_001164688.2(RD3):c.*1307_*1308insCT
|
rs142577368
|
|
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=)
|
rs11230683
|
|
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro)
|
rs569734777
|
|
NM_001194998.2(CEP152):c.-77G>C
|
rs141463032
|
|
NM_001195248.2(APTX):c.*851_*852del
|
rs377365362
|
|
NM_001267550.2(TTN):c.*99dup
|
rs11424072
|
|
NM_001267550.2(TTN):c.15178G>A (p.Val5060Ile)
|
rs72648929
|
|
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu)
|
rs72648929
|
|
NM_001267550.2(TTN):c.23538C>G (p.Phe7846Leu)
|
rs149523263
|
|
NM_001267550.2(TTN):c.23853C>A (p.Ala7951=)
|
rs201766927
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[7]
|
rs71393436
|
|
NM_001267550.2(TTN):c.26762-39TTTGT[8]
|
rs71393436
|
|
NM_001267550.2(TTN):c.30512-19dup
|
rs397517532
|
|
NM_001267550.2(TTN):c.34453+14G>A
|
rs397517550
|
|
NM_001267550.2(TTN):c.4322G>C (p.Arg1441Pro)
|
rs72647876
|
|
NM_001267550.2(TTN):c.45120T>G (p.Ile15040Met)
|
rs74580375
|
|
NM_001267550.2(TTN):c.56910C>T (p.Gly18970=)
|
rs148299739
|
|
NM_001267550.2(TTN):c.72033A>G (p.Pro24011=)
|
rs72646894
|
|
NM_001267550.2(TTN):c.86683G>A (p.Val28895Met)
|
rs201290358
|
|
NM_001278293.3(ARL6):c.-27-1461A>T
|
rs143739859
|
|
NM_001351132.2(PEX5):c.-17+151G>A
|
rs146875386
|
|
NM_001354304.2(PAH):c.-95-385_-95-382del
|
rs147576673
|
|
NM_001366722.1(GRIP1):c.*1261dup
|
rs35499444
|
|
NM_001366722.1(GRIP1):c.*1299_*1301dup
|
rs200995788
|
|
NM_001366722.1(GRIP1):c.*1524_*1527del
|
rs148261691
|
|
NM_001366722.1(GRIP1):c.*647_*650dup
|
rs200677568
|
|
NM_001366722.1(GRIP1):c.*695_*697dup
|
rs201977256
|
|
NM_001366722.1(GRIP1):c.1355-10_1355-8del
|
rs148083271
|
|
NM_001366722.1(GRIP1):c.1787C>G (p.Pro596Arg)
|
rs200955760
|
|
NM_001366722.1(GRIP1):c.418+14C>A
|
rs79994510
|
|
NM_001367624.2(ZNF469):c.10328G>T (p.Gly3443Val)
|
rs140056980
|
|
NM_001367624.2(ZNF469):c.10599C>T (p.Pro3533=)
|
rs78022634
|
|
NM_001367624.2(ZNF469):c.2666C>T (p.Ala889Val)
|
rs145186655
|
|
NM_001367624.2(ZNF469):c.6552G>T (p.Thr2184=)
|
rs12919507
|
|
NM_001374623.1(PNPLA1):c.1595+221G>C
|
rs150486914
|
|
NM_001378454.1(ALMS1):c.10297A>G (p.Thr3433Ala)
|
rs750493624
|
|
NM_001378454.1(ALMS1):c.5457G>A (p.Glu1819=)
|
rs886038613
|
|
NM_001378454.1(ALMS1):c.5780G>A (p.Gly1927Asp)
|
rs886056304
|
|
NM_001378454.1(ALMS1):c.668C>A (p.Ser223Tyr)
|
rs886038615
|
|
NM_001378615.1(CC2D2A):c.1978G>A (p.Val660Ile)
|
rs16892134
|
|
NM_001384474.1(LOXHD1):c.4148C>T (p.Thr1383Met)
|
rs7244681
|
|
NM_001386140.1(MTTP):c.490A>G (p.Thr164Ala)
|
rs563558722
|
|
NM_002180.3(IGHMBP2):c.*524T>C
|
rs192025232
|
|
NM_002180.3(IGHMBP2):c.*648G>A
|
rs139118510
|
|
NM_002180.3(IGHMBP2):c.*729G>A
|
rs191714559
|
|
NM_002180.3(IGHMBP2):c.2295C>T (p.His765=)
|
rs149185954
|
|
NM_002241.5(KCNJ10):c.*1027C>T
|
rs12067668
|
|
NM_002241.5(KCNJ10):c.*1813C>A
|
rs78280261
|
|
NM_002241.5(KCNJ10):c.*1970GT[23]
|
rs56656397
|
|
NM_002241.5(KCNJ10):c.*89C>T
|
rs115130978
|
|
NM_002292.4(LAMB2):c.261G>A (p.Lys87=)
|
rs149408554
|
|
NM_002292.4(LAMB2):c.310C>T (p.His104Tyr)
|
rs552475229
|
|
NM_002292.4(LAMB2):c.5061G>T (p.Thr1687=)
|
rs150465100
|
|
NM_002473.6(MYH9):c.2217G>C (p.Ala739=)
|
rs756586731
|
|
NM_002485.5(NBN):c.*1583G>A
|
rs139384734
|
|
NM_002700.3(POU4F3):c.948C>G (p.Asn316Lys)
|
rs149303333
|
|
NM_002855.5(NECTIN1):c.*2884G>A
|
rs115594822
|
|
NM_002855.5(NECTIN1):c.*5C>G
|
rs142987437
|
|
NM_002860.4(ALDH18A1):c.-120A>G
|
rs181772739
|
|
NM_003322.6(TULP1):c.*273del
|
rs112061946
|
|
NM_003839.4(TNFRSF11A):c.*633C>G
|
rs184568614
|
|
NM_003839.4(TNFRSF11A):c.*938T>C
|
rs565315471
|
|
NM_004086.3(COCH):c.*612G>T
|
rs541766600
|
|
NM_004100.5(EYA4):c.899C>A (p.Ala300Asp)
|
rs757252384
|
|
NM_004153.4(ORC1):c.189G>T (p.Pro63=)
|
rs201244952
|
|
NM_004407.4(DMP1):c.844C>A (p.Leu282Ile)
|
rs141979823
|
|
NM_004525.3(LRP2):c.*1381GATG[6]
|
rs3083261
|
|
NM_004525.3(LRP2):c.11498-13del
|
rs143342962
|
|
NM_004525.3(LRP2):c.12125G>A (p.Arg4042His)
|
rs199874294
|
|
NM_004525.3(LRP2):c.8699-8C>T
|
rs145301652
|
|
NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu)
|
rs41277835
|
|
NM_004744.5(LRAT):c.*2258_*2259insTGTTGTGCTGAGTTT
|
rs372786858
|
|
NM_004937.2(CTNS):c.-476G>A
|
rs373260107
|
|
NM_004937.3(CTNS):c.*1174CT[1]
|
rs397857879
|
|
NM_004937.3(CTNS):c.*847C>T
|
rs146131305
|
|
NM_004999.4(MYO6):c.*4283A>T
|
rs7746476
|
|
NM_005199.5(CHRNG):c.*477C>A
|
rs59295139
|
|
NM_005199.5(CHRNG):c.*592_*598del
|
rs199761478
|
|
NM_005219.5(DIAPH1):c.*224G>A
|
rs182541836
|
|
NM_005219.5(DIAPH1):c.1523A>G (p.Asp508Gly)
|
rs373413837
|
|
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val)
|
rs189809247
|
|
NM_005422.4(TECTA):c.90A>T (p.Pro30=)
|
rs577470721
|
|
NM_005529.7(HSPG2):c.11671+10C>T
|
rs540252244
|
|
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu)
|
rs113652076
|
|
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu)
|
rs147114700
|
|
NM_005708.5(GPC6):c.*38A>T
|
rs115454779
|
|
NM_006005.3(WFS1):c.-127A>G
|
rs542116747
|
|
NM_006005.3(WFS1):c.114C>T (p.Ser38=)
|
rs531593902
|
|
NM_006005.3(WFS1):c.1294C>T (p.Leu432=)
|
rs35031397
|
|
NM_006005.3(WFS1):c.468G>T (p.Thr156=)
|
rs201145164
|
|
NM_006208.3(ENPP1):c.*150G>A
|
rs571779819
|
|
NM_006642.5(SDCCAG8):c.*97G>A
|
rs554190542
|
|
NM_006892.4(DNMT3B):c.*763A>G
|
rs535281176
|
|
NM_006892.4(DNMT3B):c.1359G>A (p.Gly453=)
|
rs35216603
|
|
NM_006892.4(DNMT3B):c.1760-8C>T
|
rs2424926
|
|
NM_006946.4(SPTBN2):c.1351-7G>A
|
rs116078747
|
|
NM_012188.5(FOXI1):c.*143A>T
|
rs55762796
|
|
NM_012414.4(RAB3GAP2):c.*1694_*1695insACA
|
rs143194915
|
|
NM_012414.4(RAB3GAP2):c.*2512dup
|
rs143756119
|
|
NM_012414.4(RAB3GAP2):c.304+12A>G
|
rs530311696
|
|
NM_013382.7(POMT2):c.*1893G>A
|
rs114623446
|
|
NM_014028.4(OSTM1):c.*2276C>A
|
rs546976371
|
|
NM_014053.3(FLVCR1):c.*4085_*4086delTT
|
rs148146820
|
|
NM_014053.4(FLVCR1):c.*2061CA[13]
|
rs139242973
|
|
NM_014321.4(ORC6):c.*578AGAT[4]
|
rs568119196
|
|
NM_014321.4(ORC6):c.*599GATA[7]
|
rs60635029
|
|
NM_014336.5(AIPL1):c.*151_*152del
|
rs77115868
|
|
NM_014363.6(SACS):c.*1046CTTTA[1]
|
rs66920661
|
|
NM_015046.7(SETX):c.*431_*432del
|
rs112251805
|
|
NM_015102.5(NPHP4):c.136-4del
|
rs143323188
|
|
NM_015102.5(NPHP4):c.3758G>A (p.Arg1253Gln)
|
rs560944258
|
|
NM_015120.4(ALMS1):c.-39CTC[4]
|
rs746980000
|
|
NM_015311.3(OBSL1):c.4005C>T (p.Asp1335=)
|
rs375716830
|
|
NM_015311.3(OBSL1):c.4024G>A (p.Asp1342Asn)
|
rs557890380
|
|
NM_015311.3(OBSL1):c.4067-11G>A
|
rs1983211
|
|
NM_015404.4(WHRN):c.-314C>T
|
rs57258861
|
|
NM_015404.4(WHRN):c.-608_-601del
|
rs150944893
|
|
NM_015665.6(AAAS):c.-70T>C
|
rs186975061
|
|
NM_015702.3(MMADHC):c.-145A>G
|
rs12477482
|
|
NM_016239.4(MYO15A):c.*628C>G
|
rs55973639
|
|
NM_017755.6(NSUN2):c.997G>A (p.Ala333Thr)
|
rs564938323
|
|
NM_017875.4(SLC25A38):c.-273G>A
|
rs184769974
|
|
NM_018206.6(VPS35):c.-34G>A
|
rs3743928
|
|
NM_018319.4(TDP1):c.*89_*90dup
|
rs397721425
|
|
NM_018319.4(TDP1):c.*932C>T
|
rs537989252
|
|
NM_018389.5(SLC35C1):c.*1636G>T
|
rs79173599
|
|
NM_018451.5(CENPJ):c.*404CT[1]
|
rs141666267
|
|
NM_018965.4(TREM2):c.287C>A (p.Thr96Lys)
|
rs2234253
|
|
NM_018972.4(GDAP1):c.*1639A>G
|
rs145245478
|
|
NM_018972.4(GDAP1):c.*1639A>T
|
rs145245478
|
|
NM_020247.5(COQ8A):c.*761G>A
|
rs145779574
|
|
NM_020661.4(AICDA):c.*470C>G
|
rs190321240
|
|
NM_020779.4(WDR35):c.*573A>T
|
rs140069324
|
|
NM_020779.4(WDR35):c.*998A>G
|
rs530093062
|
|
NM_021830.5(TWNK):c.*472GA[2]
|
rs370783985
|
|
NM_021830.5(TWNK):c.-306GT[1]
|
rs146265037
|
|
NM_022098.4(XPNPEP3):c.*390A>G
|
rs142395135
|
|
NM_022098.4(XPNPEP3):c.*6178C>G
|
rs193116004
|
|
NM_022098.4(XPNPEP3):c.970-8T>C
|
rs547747361
|
|
NM_022124.6(CDH23):c.-45AGGCG[2]
|
rs71012280
|
|
NM_022124.6(CDH23):c.-45AGGCG[4]
|
rs71012280
|
|
NM_022124.6(CDH23):c.1089C>T (p.Val363=)
|
rs556135873
|
|
NM_022124.6(CDH23):c.4762C>T (p.Arg1588Trp)
|
rs137937502
|
|
NM_022124.6(CDH23):c.5418C>G (p.Asp1806Glu)
|
rs74145660
|
|
NM_022336.4(EDAR):c.1017C>T (p.Val339=)
|
rs201434694
|
|
NM_022336.4(EDAR):c.146C>T (p.Pro49Leu)
|
rs375891208
|
|
NM_022336.4(EDAR):c.844C>T (p.Arg282Trp)
|
rs781652310
|
|
NM_022464.5(SIL1):c.-94G>C
|
|
|
NM_024570.4(RNASEH2B):c.925dup (p.Ile309fs)
|
rs75254367
|
|
NM_024596.5(MCPH1):c.1351G>A (p.Glu451Lys)
|
rs202004426
|
|
NM_025074.6(FRAS1):c.*3146_*3149delTTTG
|
rs148508826
|
|
NM_025074.7(FRAS1):c.7029+9A>C
|
rs188606284
|
|
NM_025216.2(WNT10A):c.-203dup
|
rs561005501
|
|
NM_025216.3(WNT10A):c.1003G>A (p.Asp335Asn)
|
rs545956598
|
|
NM_032119.4(ADGRV1):c.13590C>T (p.Pro4530=)
|
rs41311745
|
|
NM_032119.4(ADGRV1):c.18803-4G>T
|
rs80335659
|
|
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn)
|
rs41302834
|
|
NM_032193.3(RNASEH2C):c.-157C>A
|
rs535406222
|
|
NM_032193.4(RNASEH2C):c.*310C>T
|
rs190723966
|
|
NM_032193.4(RNASEH2C):c.*948dup
|
rs142614068
|
|
NM_032193.4(RNASEH2C):c.265AAG[1] (p.Lys90del)
|
rs141875736
|
|
NM_032575.3(GLIS2):c.1413C>G (p.Ser471Arg)
|
rs201182025
|
|
NM_033064.4(ATCAY):c.-424delC
|
rs564678183
|
|
NM_033064.5(ATCAY):c.*441G>C
|
rs117035326
|
|
NM_033064.5(ATCAY):c.*758C>T
|
rs116954582
|
|
NM_033629.6(TREX1):c.394C>G (p.Pro132Ala)
|
rs200510205
|
|
NM_052989.3(IFT122):c.1713G>T (p.Ser571=)
|
rs150174636
|
|
NM_130384.3(ATRIP):c.*272del
|
rs3135939
|
|
NM_138694.4(PKHD1):c.*2064G>T
|
rs141074474
|
|
NM_138694.4(PKHD1):c.*2666G>A
|
rs77036429
|
|
NM_138694.4(PKHD1):c.6333-8_6333-7del
|
rs138161138
|
|
NM_144596.4(TTC8):c.1464G>C (p.Ala488=)
|
rs142073418
|
|
NM_147127.5(EVC2):c.3272+8G>A
|
rs201800139
|
|
NM_153717.3(EVC):c.*1314G>A
|
rs567979829
|
|
NM_153717.3(EVC):c.*1439C>T
|
rs188270163
|
|
NM_153717.3(EVC):c.2895-10_2895-9del
|
rs371125826
|
|
NM_170707.4(LMNA):c.-88G>T
|
rs115800510
|
|
NM_170707.4(LMNA):c.1551G>A (p.Gln517=)
|
rs41314035
|
|
NM_170784.3(MKKS):c.-649+2202_-649+2204dup
|
rs143825746
|
|
NM_173477.5(USH1G):c.*1168TG[6]
|
rs746904393
|
|
NM_174878.3(CLRN1):c.*277G>A
|
rs200685524
|
|
NM_174936.4(PCSK9):c.*1247AAAC[2]
|
rs368406783
|
|
NM_174936.4(PCSK9):c.*448dup
|
rs72646533
|
|
NM_178161.3(PTF1A):c.*157GAT[1]
|
rs149560393
|
|
NM_178170.3(NEK8):c.1732+8_1732+10del
|
rs3833163
|
|
NM_182961.4(SYNE1):c.1483A>G (p.Thr495Ala)
|
rs200954103
|
|
NM_182961.4(SYNE1):c.16476A>G (p.Gln5492=)
|
rs141380170
|
|
NM_201253.3(CRB1):c.4005+4AGC[3]
|
rs550852869
|
|
NM_203486.3(DLL3):c.616C>G (p.Pro206Ala)
|
rs376905666
|
|
NM_206933.4(USH2A):c.4252-36CTTT[5]
|
rs372388546
|
|
NM_207361.6(FREM2):c.*223C>T
|
rs115575417
|
|
NM_207361.6(FREM2):c.*2296T>C
|
rs539188773
|
|
NM_207361.6(FREM2):c.7520-5del
|
rs36084034
|
|