ClinVar Miner

List of variants reported as likely benign for autosomal recessive disease by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2860
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HGVS dbSNP gnomAD frequency
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

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