ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Eurofins NTD LLC (GA) and "benign" from any submitter

Minimum review status of the submission from Eurofins NTD LLC (GA): Collection method of the submission from Eurofins NTD LLC (GA):
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 2186
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.18094
NM_005105.5(RBM8A):c.*6C>G rs12079762 0.04454
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_006208.3(ENPP1):c.-13G>A rs535293574 0.01629
NM_000552.5(VWF):c.5049A>C (p.Ala1683=) rs79275181 0.01607
NM_000321.3(RB1):c.2212-16T>A rs201258424 0.01386
NM_006416.5(SLC35A1):c.7G>T (p.Ala3Ser) rs149903512 0.01248
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_001305581.2(LRMDA):c.132-253012del rs146123023 0.01042
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143 0.01036
NM_004006.3(DMD):c.31+36949C>T rs182597890 0.01020
NM_005876.5(SPEG):c.116T>C (p.Val39Ala) rs565137573 0.00953
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=) rs193922854 0.00873
NM_005609.4(PYGM):c.1092+6dup rs368602234 0.00700
NM_000035.4(ALDOB):c.-214G>A rs185972191 0.00678
NM_001128228.3(TPRN):c.206G>A (p.Arg69Gln) rs548415902 0.00676
NM_001029883.3(PCARE):c.3059A>G (p.Gln1020Arg) rs200367963 0.00653
NM_001029883.3(PCARE):c.3058C>A (p.Gln1020Lys) rs201355503 0.00651
NM_020451.3(SELENON):c.-14C>A rs867555591 0.00642
NM_000275.3(OCA2):c.574-19A>G rs145242923 0.00618
NM_020066.5(FMN2):c.883T>C (p.Ser295Pro) rs201538863 0.00575
NM_138694.4(PKHD1):c.2279+13T>G rs188914598 0.00572
NM_032601.4(MCEE):c.427C>T (p.Arg143Cys) rs138436961 0.00566
NM_000243.3(MEFV):c.1587+33C>G rs146820856 0.00556
NM_001256715.2(DNAAF3):c.323-4del rs201986299 0.00533
NM_001367624.2(ZNF469):c.2717C>T (p.Pro906Leu) rs77951481 0.00528
NM_000273.3(GPR143):c.250+11G>C rs375563631 0.00511
NM_001367624.2(ZNF469):c.11277C>T (p.Ser3759=) rs372634401 0.00490
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met) rs587784372 0.00471
NM_004320.6(ATP2A1):c.663C>G (p.Gly221=) rs113803159 0.00468
NM_030973.4(MED25):c.1004C>T (p.Ala335Val) rs145770066 0.00443
NM_002693.3(POLG):c.-80C>T rs3087378 0.00435
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val) rs116005007 0.00425
NM_000163.5(GHR):c.535C>T (p.Arg179Cys) rs121909362 0.00410
NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe) rs138886378 0.00409
NM_001127222.2(CACNA1A):c.3040G>A (p.Glu1014Lys) rs16024 0.00390
NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg) rs187695569 0.00389
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_000843.4(GRM6):c.504+20G>C rs572890701 0.00374
NM_000271.5(NPC1):c.1947+14_1947+15insC rs201170241 0.00371
NM_006059.4(LAMC3):c.4092C>T (p.Ser1364=) rs141724499 0.00360
NM_003977.4(AIP):c.100-18C>T rs202156895 0.00359
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843 0.00356
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826 0.00353
NM_019066.5(MAGEL2):c.1286C>T (p.Pro429Leu) rs2233061 0.00353
NM_005502.4(ABCA1):c.1196T>C (p.Val399Ala) rs9282543 0.00352
NM_001165967.2(HES7):c.591C>T (p.Pro197=) rs558811781 0.00342
NM_006059.4(LAMC3):c.2891-8C>T rs199535979 0.00339
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184 0.00338
NM_001367624.2(ZNF469):c.2841G>A (p.Arg947=) rs150435442 0.00334
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787 0.00332
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_020822.3(KCNT1):c.99A>G (p.Gln33=) rs146152956 0.00323
NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=) rs111866498 0.00321
NM_000540.3(RYR1):c.9685+16C>T rs45496799 0.00312
NM_000371.4(TTR):c.336+19G>A rs75517067 0.00309
NM_001201543.2(FAM161A):c.1153C>G (p.Gln385Glu) rs139266382 0.00309
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285 0.00306
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln) rs188101277 0.00303
NM_001110219.3(GJB6):c.489G>A (p.Leu163=) rs35002004 0.00300
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024 0.00299
NM_004527.4(MEOX1):c.126G>A (p.Pro42=) rs141693578 0.00295
NM_015404.4(WHRN):c.1365T>C (p.Ser455=) rs111033459 0.00294
NM_006059.4(LAMC3):c.2517G>A (p.Thr839=) rs140540789 0.00292
NM_001458.5(FLNC):c.8003T>C (p.Met2668Thr) rs200502811 0.00291
NM_018139.3(DNAAF2):c.1953A>G (p.Pro651=) rs34352773 0.00287
NM_021098.3(CACNA1H):c.4039-4G>A rs57315342 0.00287
NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys) rs189476639 0.00283
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00282
NM_022436.3(ABCG5):c.80G>C (p.Gly27Ala) rs56204478 0.00282
NM_001909.5(CTSD):c.912G>A (p.Pro304=) rs140238987 0.00281
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser) rs147551003 0.00280
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser) rs187546086 0.00275
NM_006343.3(MERTK):c.2593C>T (p.Arg865Trp) rs2230516 0.00274
NM_012208.4(HARS2):c.7C>G (p.Leu3Val) rs186043734 0.00273
NM_001177316.2(SLC34A3):c.1149C>T (p.Ala383=) rs199536442 0.00271
NM_000278.5(PAX2):c.360C>T (p.Ala120=) rs41291450 0.00270
NM_194248.3(OTOF):c.2215-80T>C rs143141993 0.00268
NM_000218.3(KCNQ1):c.-5T>C rs532941548 0.00267
NM_201253.3(CRB1):c.1470C>T (p.Gly490=) rs35193230 0.00265
NM_005379.4(MYO1A):c.2724+7G>A rs55985817 0.00264
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_005562.3(LAMC2):c.1899G>C (p.Leu633=) rs141812464 0.00257
NM_000542.5(SFTPB):c.403G>A (p.Gly135Ser) rs35373464 0.00256
NM_001170629.2(CHD8):c.456A>G (p.Pro152=) rs61752839 0.00255
NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met) rs375045076 0.00255
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00255
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00252
NM_000260.4(MYO7A):c.1554+8G>A rs111033227 0.00249
NM_000444.6(PHEX):c.1344C>T (p.Asp448=) rs144911719 0.00247
NM_000098.3(CPT2):c.1806T>C (p.Phe602=) rs147953465 0.00245
NM_000487.6(ARSA):c.1447G>A (p.Glu483Lys) rs148352371 0.00245
NM_000261.2(MYOC):c.366C>T (p.Gly122=) rs145354114 0.00244
NM_000255.4(MMUT):c.205A>G (p.Ile69Val) rs115923556 0.00243
NM_002435.3(MPI):c.303C>T (p.Leu101=) rs139228075 0.00240
NM_005876.5(SPEG):c.6076C>G (p.Arg2026Gly) rs531879999 0.00240
NM_001384732.1(CPLANE1):c.8958+4A>C rs199810663 0.00237
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=) rs35654397 0.00236
NM_001256317.3(TMPRSS3):c.1125C>T (p.Tyr375=) rs111033292 0.00235
NM_006204.4(PDE6C):c.2037-7T>C rs181296577 0.00234
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219 0.00234
NM_182914.3(SYNE2):c.16743G>A (p.Thr5581=) rs138769395 0.00232
NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val) rs142062146 0.00231
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=) rs56329646 0.00231
NM_002335.4(LRP5):c.2124G>A (p.Ser708=) rs140977837 0.00230
NM_006420.3(ARFGEF2):c.807C>T (p.Asp269=) rs149172723 0.00230
NM_001048166.1(STIL):c.1024-4T>C rs188900275 0.00229
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile) rs141010716 0.00227
NM_003179.3(SYP):c.687C>T (p.Ala229=) rs201427270 0.00227
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00227
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp) rs148040591 0.00225
NM_015295.3(SMCHD1):c.424+10C>T rs201631086 0.00225
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00223
NM_001367624.2(ZNF469):c.7267C>A (p.Pro2423Thr) rs199727372 0.00222
NM_001039141.3(TRIOBP):c.2149C>G (p.Gln717Glu) rs186620158 0.00221
NM_001048166.1(STIL):c.3581C>T (p.Pro1194Leu) rs144746030 0.00220
NM_014336.5(AIPL1):c.516T>C (p.His172=) rs62637017 0.00220
NM_032273.4(TMEM126A):c.96T>G (p.Leu32=) rs36100288 0.00220
NM_183050.4(BCKDHB):c.742+16A>G rs140373763 0.00220
NM_001377.3(DYNC2H1):c.9254C>T (p.Ala3085Val) rs202071528 0.00219
NM_001305581.2(LRMDA):c.193C>T (p.Leu65=) rs147768808 0.00217
NM_005506.4(SCARB2):c.445G>A (p.Val149Met) rs147159813 0.00217
NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=) rs61757111 0.00215
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254 0.00215
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=) rs370286749 0.00214
NM_000275.3(OCA2):c.1153T>A (p.Phe385Ile) rs137956605 0.00213
NM_018699.4(PRDM5):c.1283-5C>T rs185134294 0.00213
NM_022039.4(FBXW4):c.457G>A (p.Gly153Arg) rs116070021 0.00212
NM_001292063.2(OTOG):c.6893G>A (p.Arg2298His) rs142799217 0.00211
NM_001378609.3(OTOGL):c.3255T>C (p.Thr1085=) rs138823379 0.00210
NM_004625.4(WNT7A):c.861G>A (p.Val287=) rs149962459 0.00210
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg) rs137973321 0.00210
NM_000540.3(RYR1):c.2121C>A (p.Gly707=) rs146104858 0.00208
NM_147127.5(EVC2):c.18C>T (p.Ser6=) rs556910528 0.00207
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_001035.3(RYR2):c.2760G>A (p.Glu920=) rs186181155 0.00205
NM_001378609.3(OTOGL):c.3069A>G (p.Gln1023=) rs144125797 0.00205
NM_001379270.1(CNGA1):c.1031A>G (p.Lys344Arg) rs140419673 0.00205
NM_000601.6(HGF):c.1008G>A (p.Glu336=) rs148714837 0.00202
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) rs72677232 0.00202
NM_004407.4(DMP1):c.815G>A (p.Arg272His) rs145237146 0.00202
NM_000095.3(COMP):c.218-15C>A rs542886784 0.00199
NM_000260.4(MYO7A):c.3750+9G>A rs111033252 0.00197
NM_000540.3(RYR1):c.271-7C>G rs192495718 0.00197
NM_001378609.3(OTOGL):c.3356T>C (p.Ile1119Thr) rs150426222 0.00197
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611 0.00197
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001 0.00195
NM_001378609.3(OTOGL):c.3488A>G (p.Asp1163Gly) rs202085918 0.00195
NM_002473.6(MYH9):c.4396C>T (p.Arg1466Trp) rs139134727 0.00195
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=) rs56107171 0.00193
NM_182914.3(SYNE2):c.19964A>T (p.Gln6655Leu) rs149978500 0.00193
NM_001039876.3(SYNE4):c.1102G>A (p.Val368Met) rs141202530 0.00192
NM_004994.3(MMP9):c.886G>A (p.Gly296Ser) rs144098289 0.00191
NM_016239.4(MYO15A):c.4033A>T (p.Ile1345Leu) rs201234482 0.00191
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=) rs141235641 0.00191
NM_001605.3(AARS1):c.2521-3C>T rs200586605 0.00190
NM_003647.3(DGKE):c.1679A>G (p.Gln560Arg) rs61751972 0.00190
NM_004727.3(SLC24A1):c.2778C>T (p.Pro926=) rs117685425 0.00190
NM_001195263.2(PDZD7):c.2719-9C>A rs184247824 0.00189
NM_144991.3(TSPEAR):c.343G>A (p.Asp115Asn) rs144586270 0.00189
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln) rs149304901 0.00187
NM_001367624.2(ZNF469):c.10700G>A (p.Gly3567Glu) rs199610834 0.00185
NM_015404.4(WHRN):c.1627-5T>A rs187221008 0.00184
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) rs55999987 0.00184
NM_000306.4(POU1F1):c.370A>G (p.Met124Val) rs143373007 0.00183
NM_000350.3(ABCA4):c.3759G>A (p.Thr1253=) rs147884766 0.00183
NM_000492.4(CFTR):c.1365G>A (p.Ala455=) rs79074685 0.00183
NM_001128840.3(CACNA1D):c.1998G>A (p.Leu666=) rs146747080 0.00183
NM_016356.5(DCDC2):c.715T>G (p.Ser239Ala) rs144695853 0.00183
NM_153676.4(USH1C):c.2014-1G>A rs150567427 0.00183
NM_001130823.3(DNMT1):c.150C>T (p.His50=) rs146112081 0.00182
NM_015311.3(OBSL1):c.375G>A (p.Glu125=) rs374656370 0.00182
NM_173660.5(DOK7):c.1278C>T (p.Pro426=) rs139468087 0.00181
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu) rs139029314 0.00181
NM_000539.3(RHO):c.480C>A (p.Thr160=) rs151063543 0.00180
NM_001171.6(ABCC6):c.1263C>T (p.Thr421=) rs114179357 0.00180
NM_005559.4(LAMA1):c.6354C>T (p.Val2118=) rs150849018 0.00180
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661 0.00179
NM_006204.4(PDE6C):c.2082G>A (p.Met694Ile) rs150112560 0.00179
NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser) rs144200355 0.00179
NM_001042413.2(GLIS3):c.232C>G (p.Arg78Gly) rs148168366 0.00178
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462 0.00178
NM_006208.3(ENPP1):c.2757A>T (p.Pro919=) rs73541508 0.00178
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_000098.3(CPT2):c.341-16T>C rs180830030 0.00176
NM_013296.5(GPSM2):c.2043G>A (p.Ser681=) rs140949805 0.00176
NM_173630.4(RTTN):c.3048G>A (p.Pro1016=) rs149233888 0.00176
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=) rs148108322 0.00175
NM_001142800.2(EYS):c.7737T>C (p.Thr2579=) rs191846522 0.00175
NM_005522.5(HOXA1):c.684A>G (p.Gln228=) rs34462126 0.00175
NM_012144.4(DNAI1):c.81+5del rs200411544 0.00175
NM_002181.4(IHH):c.1051G>A (p.Val351Met) rs143959492 0.00174
NM_000268.4(NF2):c.1123-6C>T rs147898623 0.00173
NM_001953.5(TYMP):c.1290G>A (p.Arg430=) rs570574111 0.00173
NM_001366722.1(GRIP1):c.3207C>T (p.Pro1069=) rs187691546 0.00172
NM_001367624.2(ZNF469):c.1609G>A (p.Val537Met) rs184458982 0.00172
NM_016729.3(FOLR1):c.508G>A (p.Ala170Thr) rs139633601 0.00172
NM_178857.6(RP1L1):c.899C>T (p.Ser300Leu) rs200642524 0.00172
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202 0.00171
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00171
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) rs188336294 0.00171
NM_001038603.3(MARVELD2):c.898T>A (p.Leu300Met) rs72773422 0.00170
NM_004625.4(WNT7A):c.555C>T (p.Asn185=) rs149363953 0.00170
NM_153676.4(USH1C):c.674+4G>A rs202095395 0.00170
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506 0.00170
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=) rs56077602 0.00169
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=) rs116541276 0.00169
NM_001130987.2(DYSF):c.3403-10G>A rs116733194 0.00168
NM_001384474.1(LOXHD1):c.5313C>T (p.Gly1771=) rs373924055 0.00168
NM_001852.4(COL9A2):c.2019G>A (p.Ser673=) rs148008235 0.00168
NM_004727.3(SLC24A1):c.1131C>T (p.Thr377=) rs199504782 0.00168
NM_004817.4(TJP2):c.185C>T (p.Thr62Met) rs138241615 0.00168
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445 0.00168
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr) rs80116829 0.00167
NM_014319.5(LEMD3):c.862C>G (p.Arg288Gly) rs144086377 0.00167
NM_015175.3(NBEAL2):c.7658G>A (p.Gly2553Glu) rs144664865 0.00166
NM_033100.4(CDHR1):c.526-7C>G rs190906755 0.00166
NM_004519.4(KCNQ3):c.1994C>T (p.Ser665Leu) rs147173555 0.00165
NM_004608.4(TBX6):c.353+9C>A rs369603655 0.00165
NM_003193.5(TBCE):c.394G>A (p.Val132Ile) rs144448831 0.00164
NM_201384.3(PLEC):c.2551G>A (p.Val851Met) rs200647397 0.00164
NM_201548.5(CERKL):c.27G>A (p.Arg9=) rs368855330 0.00164
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys) rs141399869 0.00163
NM_001304438.2(TMEM132E):c.1758C>T (p.Cys586=) rs144692952 0.00163
NM_001482.3(GATM):c.669T>C (p.Tyr223=) rs151231277 0.00163
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142 0.00162
NM_001004334.4(GPR179):c.5975G>A (p.Gly1992Asp) rs200936863 0.00160
NM_001089.3(ABCA3):c.2340C>T (p.His780=) rs45620539 0.00160
NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val) rs184018403 0.00160
NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr) rs77959215 0.00160
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val) rs199755408 0.00159
NM_000392.5(ABCC2):c.3492C>T (p.Ser1164=) rs144192700 0.00159
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_025074.7(FRAS1):c.7029+7G>A rs183687186 0.00159
NM_153212.3(GJB4):c.495C>T (p.Ser165=) rs147912521 0.00159
NM_016239.4(MYO15A):c.823G>C (p.Gly275Arg) rs183969516 0.00158
NM_032578.4(MYPN):c.1790G>A (p.Arg597His) rs150911078 0.00158
NM_201384.3(PLEC):c.1955C>T (p.Thr652Ile) rs190470017 0.00158
NM_019066.5(MAGEL2):c.1470G>A (p.Pro490=) rs771501846 0.00157
NM_201525.4(ADGRG1):c.1810C>T (p.Leu604=) rs113358058 0.00157
NM_012301.4(MAGI2):c.2142G>A (p.Pro714=) rs144574076 0.00156
NM_017780.4(CHD7):c.2067G>A (p.Thr689=) rs34979623 0.00156
NM_002241.5(KCNJ10):c.735C>G (p.Asp245Glu) rs146426296 0.00155
NM_016239.4(MYO15A):c.4623G>A (p.Thr1541=) rs926074 0.00155
NM_025009.5(CEP135):c.1740A>G (p.Arg580=) rs59759676 0.00155
NM_000362.5(TIMP3):c.516C>T (p.Phe172=) rs149161075 0.00154
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438 0.00153
NM_000327.4(ROM1):c.81G>T (p.Leu27=) rs148196509 0.00152
NM_000618.5(IGF1):c.207G>A (p.Arg69=) rs147960415 0.00152
NM_018965.4(TREM2):c.259G>A (p.Asp87Asn) rs142232675 0.00152
NM_133259.4(LRPPRC):c.3275+7G>A rs111392631 0.00152
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966 0.00150
NM_001845.6(COL4A1):c.1466-6C>T rs183563055 0.00149
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly) rs560874115 0.00149
NM_032119.4(ADGRV1):c.15786C>T (p.Phe5262=) rs369083434 0.00149
NM_001042472.3(ABHD12):c.1113G>A (p.Arg371=) rs146028040 0.00147
NM_001080413.3(NOBOX):c.362C>T (p.Pro121Leu) rs187273709 0.00147
NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe) rs139334167 0.00147
NM_001374385.1(ATP8B1):c.150A>G (p.Glu50=) rs137973298 0.00146
NM_020436.5(SALL4):c.2376T>C (p.Asn792=) rs143601538 0.00146
NM_001201543.2(FAM161A):c.2064T>C (p.Ile688=) rs138464813 0.00145
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_003742.4(ABCB11):c.156G>A (p.Arg52=) rs140587295 0.00145
NM_005670.4(EPM2A):c.129C>G (p.Ala43=) rs547147183 0.00145
NM_033100.4(CDHR1):c.1461G>A (p.Gly487=) rs141787212 0.00145
NM_003846.3(PEX11B):c.483A>G (p.Gly161=) rs148000769 0.00144
NM_024301.5(FKRP):c.567C>T (p.Pro189=) rs201454433 0.00144
NM_000443.4(ABCB4):c.3037A>C (p.Arg1013=) rs2230029 0.00143
NM_001458.5(FLNC):c.6714C>T (p.Thr2238=) rs10268251 0.00143
NM_181741.4(ORC4):c.353T>C (p.Leu118Ser) rs61750441 0.00143
NM_000326.5(RLBP1):c.141+6G>A rs181321141 0.00142
NM_016239.4(MYO15A):c.54G>A (p.Lys18=) rs144909486 0.00142
NM_000744.7(CHRNA4):c.77-4G>A rs201123897 0.00141
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe) rs144590904 0.00141
NM_002471.4(MYH6):c.5400C>T (p.Asp1800=) rs144329079 0.00141
NM_014254.3(RXYLT1):c.252C>T (p.Ser84=) rs141095352 0.00141
NM_207361.6(FREM2):c.5642-9T>C rs148794835 0.00141
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229 0.00140
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042 0.00140
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642 0.00140
NM_001164508.2(NEB):c.19626T>C (p.Asp6542=) rs190336010 0.00140
NM_004820.5(CYP7B1):c.1464G>A (p.Leu488=) rs114797034 0.00140
NM_015311.3(OBSL1):c.2466C>T (p.Ser822=) rs146306059 0.00140
NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys) rs200510462 0.00140
NM_032119.4(ADGRV1):c.10260C>T (p.Phe3420=) rs113938044 0.00140
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_001355436.2(SPTB):c.5050C>T (p.Arg1684Cys) rs141226650 0.00138
NM_001384140.1(PCDH15):c.4891C>T (p.Leu1631=) rs200155519 0.00138
NM_001289104.2(PRKCSH):c.416G>A (p.Arg139His) rs139991238 0.00137
NM_001378609.3(OTOGL):c.3213+10C>T rs201373228 0.00137
NM_001458.5(FLNC):c.1698C>T (p.Ser566=) rs112194548 0.00137
NM_005559.4(LAMA1):c.5867A>G (p.Asn1956Ser) rs117433399 0.00136
NM_007118.4(TRIO):c.41C>T (p.Ser14Phe) rs905287265 0.00136
NM_181882.3(PRX):c.1574T>C (p.Val525Ala) rs149715830 0.00136
NM_001029883.3(PCARE):c.2418C>T (p.Pro806=) rs189042259 0.00135
NM_001378477.3(NYX):c.1188G>A (p.Pro396=) rs139558261 0.00135
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys) rs141280063 0.00135
NM_012254.3(SLC27A5):c.899-6C>T rs200114980 0.00135
NM_000208.4(INSR):c.2736G>A (p.Arg912=) rs147125937 0.00134
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=) rs200799870 0.00134
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_001267550.2(TTN):c.8902+14T>A rs13388274 0.00134
NM_016729.3(FOLR1):c.493+2T>C rs144637717 0.00134
NM_153676.4(USH1C):c.1906C>T (p.Arg636Cys) rs149510892 0.00134
NM_001170629.2(CHD8):c.5390+10A>T rs181227407 0.00133
NM_001367624.2(ZNF469):c.8788G>T (p.Asp2930Tyr) rs76792613 0.00133
NM_002435.3(MPI):c.10C>T (p.Pro4Ser) rs143982014 0.00133
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg) rs142736845 0.00133
NM_007254.4(PNKP):c.1491C>T (p.Ala497=) rs116192442 0.00133
NM_182914.3(SYNE2):c.11313G>C (p.Gln3771His) rs144596211 0.00133
NM_000276.4(OCRL):c.39+10G>A rs765141317 0.00132
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=) rs144256966 0.00132
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399 0.00132
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230 0.00131
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=) rs375628894 0.00131
NM_001367624.2(ZNF469):c.9516C>T (p.Ala3172=) rs577913880 0.00131
NM_001458.5(FLNC):c.7862G>A (p.Arg2621Gln) rs201636548 0.00131
NM_019066.5(MAGEL2):c.406G>A (p.Gly136Arg) rs570335069 0.00131
NM_020451.3(SELENON):c.729G>A (p.Pro243=) rs139020143 0.00131
NM_032119.4(ADGRV1):c.11974G>A (p.Asp3992Asn) rs201386977 0.00131
NM_032119.4(ADGRV1):c.1776C>A (p.Val592=) rs184127858 0.00131
NM_000875.5(IGF1R):c.3918C>T (p.Asp1306=) rs34364279 0.00130
NM_015175.3(NBEAL2):c.1948G>A (p.Gly650Arg) rs201373710 0.00130
NM_001193315.2(VIPAS39):c.1455C>A (p.Ser485Arg) rs145453157 0.00129
NM_001492.6(GDF1):c.55C>G (p.Leu19Val) rs370986101 0.00129
NM_000929.3(PLA2G5):c.312T>C (p.His104=) rs149833360 0.00128
NM_003680.4(YARS1):c.1291A>T (p.Met431Leu) rs149620809 0.00128
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val) rs145564837 0.00128
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) rs115563233 0.00128
NM_000843.4(GRM6):c.1944G>T (p.Ala648=) rs62638619 0.00127
NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=) rs61736168 0.00127
NM_001457.4(FLNB):c.6000T>C (p.Gly2000=) rs140926445 0.00127
NM_182914.3(SYNE2):c.15445C>T (p.Arg5149Cys) rs143088941 0.00127
NM_182961.4(SYNE1):c.21781C>A (p.Arg7261=) rs138032057 0.00127
NM_207361.6(FREM2):c.2740T>G (p.Cys914Gly) rs146685625 0.00127
NM_000540.3(RYR1):c.7923C>G (p.Leu2641=) rs142558977 0.00126
NM_001127255.2(NLRP7):c.1082C>T (p.Ser361Leu) rs143169084 0.00126
NM_001458.5(FLNC):c.1813+11G>T rs138716837 0.00126
NM_006269.2(RP1):c.6024A>G (p.Lys2008=) rs147680018 0.00126
NM_133261.3(GIPC3):c.856G>A (p.Val286Ile) rs138339125 0.00126
NM_206933.4(USH2A):c.8315C>T (p.Thr2772Ile) rs150807452 0.00126
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595 0.00125
NM_002900.3(RBP3):c.63C>T (p.His21=) rs146038948 0.00125
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=) rs146417316 0.00125
NM_000151.4(G6PC1):c.340+10C>A rs368450665 0.00124
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser) rs147580753 0.00124
NM_002472.3(MYH8):c.1209C>A (p.Cys403Ter) rs144321381 0.00124
NM_006420.3(ARFGEF2):c.3892G>A (p.Gly1298Ser) rs139037316 0.00124
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe) rs200542052 0.00124
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=) rs186394654 0.00124
NM_173602.3(DIP2B):c.2755C>A (p.Gln919Lys) rs151181050 0.00124
NM_001164508.2(NEB):c.25035C>T (p.Asp8345=) rs201825451 0.00123
NM_001386140.1(MTTP):c.2025C>T (p.Ile675=) rs79023226 0.00123
NM_003865.3(HESX1):c.525G>A (p.Ala175=) rs141063672 0.00123
NM_004447.6(EPS8):c.1638C>T (p.Asn546=) rs149455769 0.00123
NM_016008.4(DYNC2LI1):c.508-4G>A rs201151187 0.00123
NM_016239.4(MYO15A):c.6186C>A (p.Ala2062=) rs141475629 0.00123
NM_022437.3(ABCG8):c.1785C>T (p.Phe595=) rs139677898 0.00123
NM_194248.3(OTOF):c.339C>T (p.Cys113=) rs139098225 0.00123
NM_020822.3(KCNT1):c.3256G>A (p.Gly1086Arg) rs201156458 0.00122
NM_001142800.2(EYS):c.5335G>A (p.Gly1779Ser) rs186499459 0.00121
NM_001199107.2(TBC1D24):c.169C>T (p.Arg57Cys) rs202162520 0.00121
NM_001267550.2(TTN):c.76645G>A (p.Gly25549Ser) rs181166140 0.00121
NM_005120.3(MED12):c.5400+6C>T rs192656109 0.00121
NM_153026.3(PRICKLE1):c.1461C>T (p.Ser487=) rs116197349 0.00121
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=) rs145483148 0.00120
NM_000719.7(CACNA1C):c.724C>T (p.Leu242=) rs200800133 0.00120
NM_003193.5(TBCE):c.585C>T (p.Ser195=) rs139440109 0.00120
NM_001164508.2(NEB):c.12C>T (p.Asp4=) rs117178114 0.00119
NM_001017995.3(SH3PXD2B):c.2541C>T (p.Ala847=) rs143850475 0.00118
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met) rs143713841 0.00118
NM_014425.5(INVS):c.2310C>T (p.His770=) rs116606949 0.00118
NM_014467.3(SRPX2):c.840G>A (p.Ala280=) rs139377205 0.00118
NM_000180.4(GUCY2D):c.369C>T (p.Gly123=) rs529594203 0.00117
NM_020661.4(AICDA):c.48A>G (p.Lys16=) rs186739900 0.00117
NM_000255.4(MMUT):c.393G>A (p.Gln131=) rs145682249 0.00116
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) rs111967655 0.00116
NM_000426.4(LAMA2):c.255C>T (p.Ile85=) rs142083777 0.00116
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517 0.00116
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958 0.00116
NM_001354712.2(THRB):c.532+8G>C rs146617205 0.00116
NM_003742.4(ABCB11):c.3548T>C (p.Ile1183Thr) rs143484849 0.00116
NM_005477.3(HCN4):c.1356C>T (p.Ser452=) rs148453034 0.00116
NM_006343.3(MERTK):c.960+9C>A rs373198570 0.00116
NM_006383.4(CIB2):c.231G>A (p.Ala77=) rs144346527 0.00116
NM_016169.4(SUFU):c.600C>T (p.Ile200=) rs149513330 0.00116
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=) rs146424389 0.00116
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886 0.00115
NM_000275.3(OCA2):c.2293G>A (p.Ala765Thr) rs145968118 0.00115
NM_000337.6(SGCD):c.213G>A (p.Arg71=) rs74846539 0.00115
NM_001039141.3(TRIOBP):c.634G>A (p.Gly212Ser) rs201794404 0.00115
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) rs201213901 0.00115
NM_003073.5(SMARCB1):c.444C>T (p.Ser148=) rs138184483 0.00115
NM_006208.3(ENPP1):c.1056T>G (p.Ala352=) rs150279426 0.00115
NM_025074.7(FRAS1):c.108+10T>G rs76831011 0.00115
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322 0.00114
NM_004183.4(BEST1):c.624G>A (p.Gln208=) rs150247275 0.00114
NM_005055.5(RAPSN):c.474C>T (p.Asp158=) rs56245238 0.00114
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033 0.00113
NM_001110219.3(GJB6):c.15G>A (p.Thr5=) rs150075979 0.00113
NM_004625.4(WNT7A):c.213C>T (p.Asp71=) rs75651130 0.00113
NM_201525.4(ADGRG1):c.1983T>C (p.Gly661=) rs111939130 0.00113
NM_207122.2(EXT2):c.1178G>A (p.Arg393Gln) rs138187791 0.00113
NM_000452.3(SLC10A2):c.66T>C (p.Pro22=) rs138387807 0.00112
NM_000195.5(HPS1):c.198G>A (p.Ser66=) rs115265574 0.00111
NM_001039141.3(TRIOBP):c.2811C>T (p.Ile937=) rs115800799 0.00111
NM_001367624.2(ZNF469):c.2297G>A (p.Arg766Gln) rs144492145 0.00111
NM_001374385.1(ATP8B1):c.1014C>T (p.Asn338=) rs145750280 0.00111
NM_005751.5(AKAP9):c.10767G>A (p.Leu3589=) rs56198613 0.00111
NM_012254.3(SLC27A5):c.937C>T (p.Leu313=) rs143272701 0.00111
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950 0.00110
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00110
NM_006941.4(SOX10):c.72C>T (p.Ser24=) rs763019569 0.00110
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030 0.00109
NM_001256317.3(TMPRSS3):c.715T>C (p.Tyr239His) rs149001183 0.00109
NM_001267550.2(TTN):c.15563A>C (p.Gln5188Pro) rs72648930 0.00109
NM_001304438.2(TMEM132E):c.1572C>T (p.Leu524=) rs149974755 0.00109
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=) rs56402642 0.00109
NM_001330078.2(NRXN1):c.4254A>G (p.Pro1418=) rs55923848 0.00109
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala) rs56091799 0.00108
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192 0.00108
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile) rs183130427 0.00108
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr) rs201767727 0.00108
NM_001177316.2(SLC34A3):c.375C>T (p.Gly125=) rs142873841 0.00108
NM_001384474.1(LOXHD1):c.177G>A (p.Thr59=) rs116413527 0.00108
NM_002335.4(LRP5):c.3990G>A (p.Ala1330=) rs147637431 0.00108
NM_002979.5(SCP2):c.900C>T (p.Asp300=) rs148423275 0.00108
NM_004530.6(MMP2):c.759C>T (p.Ser253=) rs148801200 0.00108
NM_025074.7(FRAS1):c.641C>T (p.Pro214Leu) rs200053639 0.00108
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_006950.3(SYN1):c.1107C>T (p.Ile369=) rs150248483 0.00107
NM_014780.5(CUL7):c.4659G>A (p.Glu1553=) rs139243761 0.00107
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=) rs61736827 0.00106
NM_000142.5(FGFR3):c.1497C>T (p.Ala499=) rs140594137 0.00106
NM_000478.6(ALPL):c.818C>T (p.Thr273Met) rs148405563 0.00106
NM_001458.5(FLNC):c.6998-5C>T rs139030003 0.00106
NM_003482.4(KMT2D):c.1797G>A (p.Leu599=) rs113282510 0.00106
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met) rs145687082 0.00106
NM_005802.5(TOPORS):c.2525C>A (p.Thr842Asn) rs139859703 0.00106
NM_020436.5(SALL4):c.1287T>G (p.Phe429Leu) rs143818932 0.00106
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp) rs111033457 0.00106
NM_033100.4(CDHR1):c.2229G>A (p.Arg743=) rs150969538 0.00106
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=) rs118158347 0.00106
NM_001134407.3(GRIN2A):c.1354G>A (p.Val452Met) rs145956175 0.00105
NM_003919.3(SGCE):c.606A>G (p.Thr202=) rs148979783 0.00105
NM_005045.4(RELN):c.474-7T>C rs55693709 0.00105
NM_201384.3(PLEC):c.2844C>T (p.Pro948=) rs200482255 0.00105
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00104
NM_001927.4(DES):c.18G>A (p.Ser6=) rs199972656 0.00104
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys) rs140743238 0.00104
NM_006445.4(PRPF8):c.306C>T (p.Leu102=) rs113874709 0.00104
NM_017882.3(CLN6):c.270C>T (p.Asn90=) rs145247814 0.00104
NM_024120.5(NDUFAF5):c.585T>C (p.Tyr195=) rs150955045 0.00104
NM_025193.4(HSD3B7):c.234C>T (p.Ala78=) rs143699328 0.00104
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe) rs41305898 0.00104
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00103
NM_001039348.3(EFEMP1):c.146A>C (p.Asp49Ala) rs55849640 0.00103
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=) rs147840220 0.00103
NM_002691.4(POLD1):c.3054G>A (p.Val1018=) rs369613619 0.00103
NM_004380.3(CREBBP):c.5829G>A (p.Pro1943=) rs546554430 0.00103
NM_004839.4(HOMER2):c.643C>T (p.Arg215Cys) rs199835958 0.00103
NM_005591.4(MRE11):c.1798G>C (p.Glu600Gln) rs145415033 0.00103
NM_018136.5(ASPM):c.9276T>C (p.Gly3092=) rs151142538 0.00103
NM_130837.3(OPA1):c.85C>G (p.Pro29Ala) rs145565705 0.00103
NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=) rs140136749 0.00103
NM_198129.4(LAMA3):c.8829G>A (p.Arg2943=) rs141472847 0.00103
NM_001134363.3(RBM20):c.1602C>T (p.Asp534=) rs76048624 0.00102
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His) rs138853909 0.00102
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val) rs55634791 0.00102
NM_001371623.1(TCOF1):c.1034A>G (p.Glu345Gly) rs150637771 0.00102
NM_001999.4(FBN2):c.3351C>T (p.Asp1117=) rs78484531 0.00102
NM_004608.4(TBX6):c.408C>T (p.Arg136=) rs149724027 0.00102
NM_201599.3(ZMYM3):c.195C>G (p.Gly65=) rs139405380 0.00102
NM_000092.5(COL4A4):c.1776T>C (p.Ala592=) rs188655353 0.00101
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His) rs146504767 0.00101
NM_001128840.3(CACNA1D):c.2805G>C (p.Leu935=) rs150266932 0.00101
NM_003742.4(ABCB11):c.2811A>T (p.Gly937=) rs192375476 0.00101
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu) rs142857685 0.00101
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00100
NM_014989.7(RIMS1):c.2699-8T>C rs149883454 0.00100
NM_004999.4(MYO6):c.3530G>A (p.Arg1177His) rs139664153 0.00099
NM_014363.6(SACS):c.9852A>G (p.Thr3284=) rs147506904 0.00099
NM_173495.3(PTCHD1):c.1311T>C (p.His437=) rs150186077 0.00099
NM_182914.3(SYNE2):c.11479G>C (p.Val3827Leu) rs138514054 0.00099
NM_201599.3(ZMYM3):c.4065C>T (p.Arg1355=) rs142437272 0.00099
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053 0.00098
NM_001384910.1(GUCA1A):c.142C>T (p.Leu48=) rs35969994 0.00098
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) rs144884147 0.00098
NM_003640.5(ELP1):c.3280A>G (p.Arg1094Gly) rs146440397 0.00098
NM_005045.4(RELN):c.6141C>T (p.Phe2047=) rs79161241 0.00098
NM_020822.3(KCNT1):c.2142G>A (p.Leu714=) rs370580872 0.00098
NM_000209.4(PDX1):c.543C>T (p.Val181=) rs75498935 0.00097
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=) rs143011005 0.00097
NM_001318510.2(ACSL4):c.806+3A>G rs183171123 0.00097
NM_003036.4(SKI):c.798C>T (p.Ala266=) rs149642284 0.00097
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=) rs56394008 0.00096
NM_001038603.3(MARVELD2):c.900G>A (p.Leu300=) rs138680809 0.00096
NM_001170629.2(CHD8):c.341C>T (p.Thr114Met) rs111250264 0.00096
NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=) rs146402942 0.00096
NM_001267550.2(TTN):c.88721G>A (p.Arg29574His) rs111727915 0.00096
NM_001854.4(COL11A1):c.3231G>A (p.Pro1077=) rs147247206 0.00096
NM_002180.3(IGHMBP2):c.2793C>T (p.Gly931=) rs139926138 0.00096
NM_006445.4(PRPF8):c.5352C>T (p.Asn1784=) rs141456140 0.00096
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala) rs138481453 0.00096
NM_022437.3(ABCG8):c.1924G>A (p.Ala642Thr) rs113005049 0.00096
NM_000180.4(GUCY2D):c.1236C>T (p.Asp412=) rs61749678 0.00095
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00095
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117 0.00095
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu) rs56355310 0.00095
NM_006017.3(PROM1):c.103G>C (p.Glu35Gln) rs200290535 0.00095
NM_006017.3(PROM1):c.134A>G (p.Asp45Gly) rs201559220 0.00095
NM_031407.7(HUWE1):c.3663G>A (p.Ser1221=) rs142126065 0.00095
NM_207361.6(FREM2):c.2367G>A (p.Pro789=) rs140101984 0.00095
NM_000452.3(SLC10A2):c.1038C>T (p.Asp346=) rs147498129 0.00094
NM_001008388.5(CISD2):c.12G>A (p.Glu4=) rs145312923 0.00094
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243 0.00094
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_012469.4(PRPF6):c.1797G>A (p.Arg599=) rs145483312 0.00094
NM_022437.3(ABCG8):c.1941C>G (p.Val647=) rs147991100 0.00094
NM_133261.3(GIPC3):c.906C>T (p.Ala302=) rs140960269 0.00094
NM_198525.3(KIF7):c.3960T>A (p.Pro1320=) rs141028210 0.00094
NM_000193.4(SHH):c.876G>A (p.Gly292=) rs112055654 0.00093
NM_000466.3(PEX1):c.2926+8T>C rs369877998 0.00093
NM_000719.7(CACNA1C):c.3049-10C>T rs186741807 0.00093
NM_001165967.2(HES7):c.420G>A (p.Pro140=) rs200833034 0.00093
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln) rs72650034 0.00093
NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile) rs183245562 0.00093
NM_001360016.2(G6PD):c.1458-13C>G rs371772243 0.00093
NM_002968.3(SALL1):c.411C>T (p.Ser137=) rs151051011 0.00093
NM_005529.7(HSPG2):c.10512C>T (p.His3504=) rs55875654 0.00093
NM_005751.5(AKAP9):c.8286A>C (p.Lys2762Asn) rs144875383 0.00093
NM_012193.4(FZD4):c.1194T>C (p.Tyr398=) rs147766472 0.00093
NM_022437.3(ABCG8):c.1093A>G (p.Thr365Ala) rs114404835 0.00093
NM_145239.3(PRRT2):c.640G>C (p.Ala214Pro) rs745594874 0.00093
NM_201384.3(PLEC):c.6594C>T (p.Thr2198=) rs144242254 0.00093
NM_000208.4(INSR):c.190T>C (p.Leu64=) rs144836032 0.00092
NM_001267550.2(TTN):c.11672C>T (p.Thr3891Ile) rs148164929 0.00092
NM_003742.4(ABCB11):c.408C>T (p.Ser136=) rs183214630 0.00092
NM_004994.3(MMP9):c.1896C>T (p.Leu632=) rs202160464 0.00092
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln) rs150797476 0.00092
NM_022124.6(CDH23):c.4488+7C>T rs374215303 0.00092
NM_000310.4(PPT1):c.904A>G (p.Ile302Val) rs146902902 0.00091
NM_000392.5(ABCC2):c.258A>G (p.Val86=) rs142443276 0.00091
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe) rs200092211 0.00091
NM_001061.7(TBXAS1):c.1159G>A (p.Glu387Lys) rs3735354 0.00091
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg) rs121908242 0.00091
NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys) rs149763294 0.00091
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240 0.00091
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly) rs188098974 0.00091
NM_170707.4(LMNA):c.640-52C>T rs41314033 0.00091
NM_182914.3(SYNE2):c.16718G>A (p.Arg5573Gln) rs149227847 0.00091
NM_182961.4(SYNE1):c.6826-6A>G rs183683592 0.00091
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=) rs111033366 0.00091
NM_000082.4(ERCC8):c.66G>A (p.Glu22=) rs149130938 0.00090
NM_000124.4(ERCC6):c.2124C>T (p.Ser708=) rs114832108 0.00090
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys) rs1800548 0.00090
NM_000489.6(ATRX):c.5787-20G>T rs185359850 0.00090
NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg) rs141911199 0.00090
NM_001458.5(FLNC):c.5418G>A (p.Ser1806=) rs376078394 0.00090
NM_022095.4(ZNF335):c.2280G>A (p.Gln760=) rs148186790 0.00090
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563 0.00089
NM_001235.5(SERPINH1):c.92G>C (p.Gly31Ala) rs140588417 0.00089
NM_003119.4(SPG7):c.1083G>A (p.Ala361=) rs114135540 0.00089
NM_014874.4(MFN2):c.1641C>T (p.Leu547=) rs140924661 0.00089
NM_019098.5(CNGB3):c.2007A>G (p.Lys669=) rs147991883 0.00089
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=) rs149260051 0.00089
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=) rs148240825 0.00089
NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=) rs372702466 0.00088
NM_000748.3(CHRNB2):c.1485C>T (p.Asp495=) rs144813907 0.00088
NM_001267550.2(TTN):c.83299C>A (p.Pro27767Thr) rs184643087 0.00088
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00088
NM_001374353.1(GLI2):c.607G>A (p.Ala203Thr) rs147044066 0.00088
NM_003839.4(TNFRSF11A):c.1254T>G (p.Ser418=) rs34966542 0.00088
NM_005802.5(TOPORS):c.2547A>G (p.Ser849=) rs150650712 0.00088
NM_006019.4(TCIRG1):c.197-5C>T rs183885218 0.00088
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=) rs150508296 0.00088
NM_014989.7(RIMS1):c.1764A>G (p.Gln588=) rs192179523 0.00088
NM_020822.3(KCNT1):c.2034C>T (p.Gly678=) rs369983077 0.00088
NM_022455.5(NSD1):c.3150C>T (p.Thr1050=) rs144257298 0.00088
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val) rs41308297 0.00088
NM_033337.3(CAV3):c.40G>A (p.Val14Ile) rs121909281 0.00088
NM_000124.4(ERCC6):c.2479C>T (p.Leu827=) rs115875661 0.00087
NM_000520.6(HEXA):c.1527-6T>C rs199914308 0.00087
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser) rs141213991 0.00087
NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487 0.00087
NM_023036.6(DNAI2):c.754G>A (p.Val252Met) rs140326154 0.00087
NM_000875.5(IGF1R):c.1956T>G (p.Pro652=) rs45598332 0.00086
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met) rs201437752 0.00086
NM_001267550.2(TTN):c.81123G>A (p.Thr27041=) rs181299250 0.00086
NM_001458.5(FLNC):c.1600G>A (p.Glu534Lys) rs201905890 0.00086
NM_004560.4(ROR2):c.2461G>A (p.Val821Ile) rs149056068 0.00086
NM_004836.7(EIF2AK3):c.3153C>T (p.Tyr1051=) rs56120877 0.00086
NM_006514.4(SCN10A):c.3859G>A (p.Val1287Ile) rs145032037 0.00086
NM_021101.5(CLDN1):c.195A>G (p.Lys65=) rs145197251 0.00086
NM_024577.4(SH3TC2):c.689T>C (p.Val230Ala) rs148634904 0.00086
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys) rs188772875 0.00086
NM_032119.4(ADGRV1):c.5221T>C (p.Leu1741=) rs371831553 0.00086
NM_000208.4(INSR):c.2970G>A (p.Pro990=) rs41304772 0.00085
NM_001853.4(COL9A3):c.1242C>T (p.Pro414=) rs150153886 0.00085
NM_003742.4(ABCB11):c.174C>T (p.Asp58=) rs11568362 0.00085
NM_206933.4(USH2A):c.8559-7G>A rs199618999 0.00085
NM_000548.5(TSC2):c.1860G>A (p.Leu620=) rs45492397 0.00084
NM_001031679.3(MSRB3):c.76+7G>T rs199896714 0.00084
NM_001079802.2(FKTN):c.681G>A (p.Leu227=) rs142604625 0.00084
NM_001148.6(ANK2):c.11538C>T (p.Leu3846=) rs45602336 0.00084
NM_001193315.2(VIPAS39):c.972C>T (p.Arg324=) rs147303718 0.00084
NM_014363.6(SACS):c.1917A>G (p.Ala639=) rs138457742 0.00084
NM_198578.4(LRRK2):c.347+2T>C rs141221000 0.00084
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser) rs140080678 0.00084
NM_000238.4(KCNH2):c.51C>G (p.Thr17=) rs144338227 0.00083
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=) rs111606207 0.00083
NM_001077525.3(MTMR14):c.480C>T (p.Asn160=) rs375826804 0.00083
NM_001145809.2(MYH14):c.615G>A (p.Thr205=) rs199921330 0.00083
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val) rs72648989 0.00083
NM_001267550.2(TTN):c.31757C>A (p.Pro10586Gln) rs200459347 0.00083
NM_001267550.2(TTN):c.59318A>G (p.Glu19773Gly) rs371719028 0.00083
NM_001330078.2(NRXN1):c.2772C>T (p.Tyr924=) rs200182626 0.00083
NM_001927.4(DES):c.785A>T (p.Glu262Val) rs147327878 0.00083
NM_002878.4(RAD51D):c.919G>A (p.Glu307Lys) rs115031549 0.00083
NM_003036.4(SKI):c.216C>T (p.Pro72=) rs756778048 0.00083
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638 0.00083
NM_019066.5(MAGEL2):c.2281G>C (p.Ala761Pro) rs146970674 0.00083
NM_021939.4(FKBP10):c.174A>G (p.Glu58=) rs150052125 0.00083
NM_032119.4(ADGRV1):c.9447+6G>A rs201481219 0.00083
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049 0.00082
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=) rs45486193 0.00082
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn) rs72648973 0.00082
NM_182914.3(SYNE2):c.12673C>T (p.Pro4225Ser) rs149296737 0.00082
NM_201384.3(PLEC):c.10566G>A (p.Thr3522=) rs200741156 0.00082
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_000142.5(FGFR3):c.1923C>T (p.Asp641=) rs148104605 0.00081
NM_000410.4(HFE):c.829G>A (p.Glu277Lys) rs140080192 0.00081
NM_001193315.2(VIPAS39):c.598-6C>G rs141155709 0.00081
NM_001367721.1(CASK):c.2317+9T>C rs5964007 0.00081
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile) rs150887098 0.00081
NM_001378477.3(NYX):c.567C>A (p.Ile189=) rs746383908 0.00081
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090 0.00081
NM_005676.5(RBM10):c.1104A>G (p.Pro368=) rs149109733 0.00081
NM_006946.4(SPTBN2):c.157+5G>A rs150159444 0.00081
NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala) rs145758265 0.00081
NM_173630.4(RTTN):c.1221A>G (p.Glu407=) rs112327299 0.00081
NM_182961.4(SYNE1):c.10800G>A (p.Leu3600=) rs114858512 0.00081
NM_198506.5(LRIT3):c.379G>T (p.Asp127Tyr) rs148810231 0.00081
NM_000051.4(ATM):c.334G>A (p.Ala112Thr) rs146382972 0.00080
NM_000744.7(CHRNA4):c.1108C>T (p.Arg370Trp) rs76378652 0.00080
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro) rs138951890 0.00080
NM_012418.4(FSCN2):c.492C>T (p.Asp164=) rs370382419 0.00080
NM_153676.4(USH1C):c.2443C>T (p.Leu815=) rs148477093 0.00080
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=) rs137919524 0.00080
NM_201384.3(PLEC):c.2478C>T (p.Asp826=) rs202135215 0.00080
NM_000540.3(RYR1):c.10119G>A (p.Val3373=) rs140689610 0.00079
NM_001267550.2(TTN):c.65459C>T (p.Thr21820Ile) rs56130023 0.00079
NM_001267550.2(TTN):c.85248A>T (p.Thr28416=) rs187180708 0.00079
NM_023110.3(FGFR1):c.1098G>A (p.Pro366=) rs56174879 0.00079
NM_024596.5(MCPH1):c.1818C>T (p.Tyr606=) rs377400638 0.00079
NM_207361.6(FREM2):c.177T>C (p.Gly59=) rs370018440 0.00079
NM_207361.6(FREM2):c.2823C>T (p.Pro941=) rs150154438 0.00079
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00078
NM_000350.3(ABCA4):c.1932C>T (p.Asp644=) rs117400594 0.00078
NM_000392.5(ABCC2):c.4495A>G (p.Met1499Val) rs149200446 0.00078
NM_001105206.3(LAMA4):c.4678C>A (p.Arg1560=) rs150069819 0.00078
NM_022437.3(ABCG8):c.1411+8T>A rs201991639 0.00078
NM_032119.4(ADGRV1):c.10563T>C (p.Leu3521=) rs200946170 0.00078
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705 0.00077
NM_005670.4(EPM2A):c.24G>A (p.Val8=) rs587780938 0.00077
NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr) rs143155918 0.00077
NM_022455.5(NSD1):c.3393C>T (p.Asn1131=) rs150296373 0.00077
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=) rs111033525 0.00077
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429 0.00076
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met) rs61753019 0.00076
NM_001353214.3(DYM):c.946+7G>A rs150849326 0.00076
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=) rs144807538 0.00076
NM_002739.5(PRKCG):c.1524C>A (p.Pro508=) rs115736276 0.00076
NM_024915.4(GRHL2):c.804C>T (p.Thr268=) rs55682875 0.00076
NM_030662.4(MAP2K2):c.498C>T (p.Pro166=) rs139404261 0.00076
NM_032119.4(ADGRV1):c.1033C>A (p.Gln345Lys) rs201236317 0.00076
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863 0.00075
NM_000288.4(PEX7):c.339+10A>G rs374668045 0.00075
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys) rs142525903 0.00075
NM_002206.3(ITGA7):c.2293A>G (p.Ile765Val) rs148641361 0.00075
NM_003179.3(SYP):c.612G>A (p.Ser204=) rs145093168 0.00075
NM_005097.4(LGI1):c.600C>T (p.Cys200=) rs148862146 0.00075
NM_006343.3(MERTK):c.1261C>T (p.Arg421Trp) rs142985827 0.00075
NM_020822.3(KCNT1):c.942C>T (p.Thr314=) rs144766991 0.00075
NM_000193.4(SHH):c.1078C>T (p.Leu360=) rs191903572 0.00074
NM_001017420.3(ESCO2):c.1013+7A>G rs149494070 0.00074
NM_001127222.2(CACNA1A):c.3355G>A (p.Ala1119Thr) rs199745070 0.00074
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His) rs146733308 0.00074
NM_000163.5(GHR):c.686G>A (p.Arg229His) rs6177 0.00073
NM_000260.4(MYO7A):c.3503+17G>A rs369969967 0.00073
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_001267550.2(TTN):c.21002A>G (p.Lys7001Arg) rs200594798 0.00073
NM_001378414.1(HDAC4):c.681C>T (p.His227=) rs148880349 0.00073
NM_001379180.1(ESRRB):c.414G>A (p.Val138=) rs141586518 0.00073
NM_002473.6(MYH9):c.2871C>T (p.Ser957=) rs374840260 0.00073
NM_003482.4(KMT2D):c.1187C>G (p.Pro396Arg) rs377452989 0.00073
NM_004006.3(DMD):c.1731A>T (p.Glu577Asp) rs150199251 0.00073
NM_005068.3(SIM1):c.279C>T (p.Phe93=) rs145361258 0.00073
NM_006269.2(RP1):c.228C>T (p.Leu76=) rs142600056 0.00073
NM_006516.4(SLC2A1):c.894C>T (p.Phe298=) rs140825318 0.00073
NM_022455.5(NSD1):c.5520A>G (p.Glu1840=) rs140815139 0.00073
NM_001368397.1(FRMPD4):c.2829C>T (p.Tyr943=) rs140515130 0.00072
NM_004385.5(VCAN):c.6767T>C (p.Leu2256Pro) rs146630369 0.00072
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=) rs149185385 0.00072
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279 0.00072
NM_000346.4(SOX9):c.531G>A (p.Arg177=) rs144824678 0.00071
NM_001035.3(RYR2):c.14484G>T (p.Gly4828=) rs370996795 0.00071
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=) rs200048692 0.00071
NM_001199107.2(TBC1D24):c.1473C>G (p.Pro491=) rs370427146 0.00071
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279 0.00071
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr) rs188878341 0.00071
NM_007254.4(PNKP):c.501G>A (p.Val167=) rs142143566 0.00071
NM_018136.5(ASPM):c.3189A>G (p.Leu1063=) rs146858888 0.00071
NM_182961.4(SYNE1):c.7647C>T (p.His2549=) rs113163375 0.00071
NM_000744.7(CHRNA4):c.1441G>A (p.Gly481Ser) rs111969225 0.00070
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile) rs201836062 0.00070
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910 0.00070
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr) rs72648263 0.00070
NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=) rs143651470 0.00070
NM_004568.6(SERPINB6):c.750C>T (p.Tyr250=) rs35617833 0.00070
NM_004984.4(KIF5A):c.1419G>A (p.Leu473=) rs139091551 0.00070
NM_014363.6(SACS):c.10668G>A (p.Leu3556=) rs139517699 0.00070
NM_182961.4(SYNE1):c.22617C>T (p.Leu7539=) rs111367233 0.00070
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=) rs146839867 0.00069
NM_001039141.3(TRIOBP):c.2201C>T (p.Ser734Phe) rs199794705 0.00069
NM_001267550.2(TTN):c.76019T>A (p.Val25340Asp) rs200287703 0.00069
NM_004006.3(DMD):c.10262+1G>A rs145603325 0.00069
NM_014927.5(CNKSR2):c.2199G>A (p.Thr733=) rs113091231 0.00069
NM_139058.3(ARX):c.447G>C (p.Ala149=) rs745705522 0.00069
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_001040142.2(SCN2A):c.5505C>T (p.Asn1835=) rs6706924 0.00068
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288 0.00068
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu) rs2234704 0.00068
NM_001458.5(FLNC):c.4022G>A (p.Arg1341Gln) rs149641783 0.00068
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=) rs78388808 0.00068
NM_182961.4(SYNE1):c.12255G>A (p.Gln4085=) rs145401144 0.00068
NM_206933.4(USH2A):c.5802G>A (p.Ser1934=) rs149776188 0.00068
NM_000551.4(VHL):c.183C>G (p.Pro61=) rs63650860 0.00067
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086 0.00067
NM_001368397.1(FRMPD4):c.3738C>T (p.His1246=) rs151079505 0.00067
NM_004100.5(EYA4):c.866C>T (p.Thr289Met) rs41286200 0.00067
NM_004403.3(GSDME):c.823A>G (p.Ile275Val) rs149956122 0.00067
NM_016239.4(MYO15A):c.8157C>T (p.His2719=) rs373955726 0.00067
NM_024408.4(NOTCH2):c.2830G>T (p.Asp944Tyr) rs151130105 0.00067
NM_198904.4(GABRG2):c.798T>C (p.Phe266=) rs115126975 0.00067
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421 0.00066
NM_000744.7(CHRNA4):c.1203G>C (p.Leu401=) rs56142348 0.00066
NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=) rs41308303 0.00066
NM_001127644.2(GABRA1):c.501G>A (p.Pro167=) rs200750234 0.00066
NM_001130438.3(SPTAN1):c.2610A>G (p.Gln870=) rs138101005 0.00066
NM_002241.5(KCNJ10):c.615A>G (p.Lys205=) rs142228240 0.00066
NM_002473.6(MYH9):c.591G>A (p.Ser197=) rs140241271 0.00066
NM_003839.4(TNFRSF11A):c.718A>G (p.Lys240Glu) rs148185533 0.00066
NM_004463.3(FGD1):c.1647G>A (p.Glu549=) rs142114385 0.00066
NM_005633.4(SOS1):c.3391+7A>G rs201982464 0.00066
NM_024301.5(FKRP):c.606G>A (p.Leu202=) rs140084192 0.00066
NM_030665.4(RAI1):c.5036C>T (p.Ala1679Val) rs142981643 0.00066
NM_000660.7(TGFB1):c.918C>T (p.Leu306=) rs72480429 0.00065
NM_001008215.3(COA5):c.*3C>G rs372867268 0.00065
NM_001378454.1(ALMS1):c.5189A>G (p.Glu1730Gly) rs201390755 0.00065
NM_001386298.1(CIC):c.5279C>T (p.Ala1760Val) rs45596843 0.00065
NM_004608.4(TBX6):c.585C>T (p.Val195=) rs148435229 0.00065
NM_005732.4(RAD50):c.671G>A (p.Arg224His) rs28903088 0.00065
NM_019098.5(CNGB3):c.1510A>G (p.Thr504Ala) rs140286824 0.00065
NM_206933.4(USH2A):c.4578G>T (p.Gly1526=) rs147560504 0.00065
NM_000070.3(CAPN3):c.525C>T (p.Asp175=) rs144383442 0.00064
NM_000334.4(SCN4A):c.3774+8G>A rs374806849 0.00064
NM_001256789.3(CACNA1F):c.3930C>A (p.Ile1310=) rs144131971 0.00064
NM_001267550.2(TTN):c.74596A>G (p.Thr24866Ala) rs199784966 0.00064
NM_007126.5(VCP):c.1584C>T (p.Ala528=) rs147623367 0.00064
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu) rs141033098 0.00064
NM_194248.3(OTOF):c.3203G>A (p.Arg1068His) rs180748688 0.00064
NM_000217.3(KCNA1):c.611G>A (p.Arg204His) rs2229000 0.00063
NM_000377.3(WAS):c.538C>A (p.His180Asn) rs145040665 0.00063
NM_000719.7(CACNA1C):c.1359C>T (p.Asp453=) rs200330469 0.00063
NM_001004334.4(GPR179):c.2410C>T (p.Arg804Trp) rs201086495 0.00063
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924 0.00063
NM_001035.3(RYR2):c.615C>T (p.Ala205=) rs112680790 0.00063
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr) rs144814658 0.00063
NM_001191061.2(SLC25A22):c.495C>T (p.Ala165=) rs374780430 0.00063
NM_001267550.2(TTN):c.54710T>C (p.Leu18237Pro) rs201412693 0.00063
NM_001267550.2(TTN):c.55659G>A (p.Val18553=) rs368450420 0.00063
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His) rs200317412 0.00063
NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn) rs200450022 0.00063
NM_006516.4(SLC2A1):c.276-7T>C rs369273744 0.00063
NM_006662.3(SRCAP):c.5469T>C (p.Leu1823=) rs370111987 0.00063
NM_014141.6(CNTNAP2):c.2292C>T (p.His764=) rs143286960 0.00063
NM_015295.3(SMCHD1):c.306G>A (p.Ser102=) rs7229488 0.00063
NM_133497.4(KCNV2):c.756G>A (p.Lys252=) rs138861317 0.00063
NM_000719.7(CACNA1C):c.1707A>G (p.Ala569=) rs375534041 0.00062
NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala) rs200118743 0.00062
NM_001457.4(FLNB):c.6843C>T (p.Ile2281=) rs140332932 0.00062
NM_002471.4(MYH6):c.5652C>T (p.Ala1884=) rs200662317 0.00062
NM_005529.7(HSPG2):c.732A>G (p.Thr244=) rs139842104 0.00062
NM_006642.5(SDCCAG8):c.1409A>G (p.Glu470Gly) rs118064970 0.00062
NM_013382.7(POMT2):c.1701C>G (p.Pro567=) rs151051452 0.00062
NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met) rs201032343 0.00062
NM_021072.4(HCN1):c.1619-3T>C rs376434225 0.00062
NM_030665.4(RAI1):c.1538A>G (p.Gln513Arg) rs147091667 0.00062
NM_000393.5(COL5A2):c.3471+8A>T rs367643805 0.00061
NM_001017995.3(SH3PXD2B):c.1602G>A (p.Gly534=) rs144228973 0.00061
NM_001032382.2(PQBP1):c.*6C>T rs181088115 0.00061
NM_001130438.3(SPTAN1):c.7161-9C>T rs187613754 0.00061
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg) rs190636272 0.00061
NM_001267550.2(TTN):c.39211+6C>T rs187365142 0.00061
NM_001330260.2(SCN8A):c.1819G>A (p.Ala607Thr) rs367949317 0.00061
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_001458.5(FLNC):c.4553A>G (p.Lys1518Arg) rs201635205 0.00061
NM_002693.3(POLG):c.1386G>A (p.Ser462=) rs62640034 0.00061
NM_004463.3(FGD1):c.622T>C (p.Ser208Pro) rs148139633 0.00061
NM_005562.3(LAMC2):c.1318A>G (p.Ile440Val) rs147889360 0.00061
NM_006662.3(SRCAP):c.7248C>T (p.Ser2416=) rs138152469 0.00061
NM_012470.4(TNPO3):c.2741C>T (p.Ala914Val) rs61756249 0.00061
NM_015102.5(NPHP4):c.4114C>T (p.Leu1372=) rs374146357 0.00061
NM_031220.4(PITPNM3):c.987G>A (p.Leu329=) rs148451236 0.00061
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe) rs200816323 0.00061
NM_080916.3(DGUOK):c.708-3T>C rs370071744 0.00061
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val) rs147638455 0.00061
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) rs146692150 0.00060
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser) rs189557655 0.00060
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716 0.00060
NM_001458.5(FLNC):c.1519G>A (p.Gly507Arg) rs189525930 0.00060
NM_001844.5(COL2A1):c.3786C>G (p.Leu1262=) rs139114389 0.00060
NM_024596.5(MCPH1):c.1480G>A (p.Ala494Thr) rs183880522 0.00060
NM_030665.4(RAI1):c.4676G>A (p.Arg1559Gln) rs141317462 0.00060
NM_032119.4(ADGRV1):c.4487A>G (p.Tyr1496Cys) rs376401006 0.00060
NM_032119.4(ADGRV1):c.9635T>C (p.Ile3212Thr) rs199833843 0.00060
NM_153676.4(USH1C):c.360C>T (p.Gly120=) rs140869579 0.00060
NM_000431.4(MVK):c.441C>T (p.Ala147=) rs138342076 0.00059
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=) rs77705198 0.00059
NM_001330078.2(NRXN1):c.105C>A (p.Gly35=) rs55640811 0.00059
NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=) rs202150325 0.00059
NM_183357.3(ADCY5):c.3336C>T (p.Ser1112=) rs141922371 0.00059
NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp) rs138682847 0.00058
NM_001159773.2(CANT1):c.966C>T (p.Ser322=) rs140989921 0.00058
NM_001170629.2(CHD8):c.6085G>A (p.Glu2029Lys) rs145300090 0.00058
NM_001191061.2(SLC25A22):c.876G>A (p.Ala292=) rs146300431 0.00058
NM_001267550.2(TTN):c.24952G>A (p.Val8318Ile) rs200103997 0.00058
NM_001330260.2(SCN8A):c.3204C>T (p.Ser1068=) rs201045619 0.00058
NM_001367624.2(ZNF469):c.1088C>T (p.Ser363Leu) rs771000169 0.00058
NM_001927.4(DES):c.656C>T (p.Thr219Ile) rs144901249 0.00058
NM_022455.5(NSD1):c.3389A>G (p.Glu1130Gly) rs113856002 0.00058
NM_024408.4(NOTCH2):c.423G>A (p.Glu141=) rs149906722 0.00058
NM_025184.4(EFHC2):c.404G>A (p.Arg135Gln) rs201560745 0.00058
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe) rs201432731 0.00058
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu) rs115403785 0.00058
NM_000092.5(COL4A4):c.4185G>A (p.Gly1395=) rs55978207 0.00057
NM_000460.4(THPO):c.639T>A (p.Thr213=) rs1042348 0.00057
NM_001127222.2(CACNA1A):c.3309C>T (p.Pro1103=) rs374749004 0.00057
NM_001170629.2(CHD8):c.1407T>C (p.Ile469=) rs190978463 0.00057
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485 0.00057
NM_001267550.2(TTN):c.49357C>A (p.Pro16453Thr) rs200121902 0.00057
NM_001330078.2(NRXN1):c.24C>T (p.Arg8=) rs200113281 0.00057
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp) rs138828590 0.00056
NM_000392.5(ABCC2):c.2613A>G (p.Glu871=) rs76302654 0.00056
NM_000492.4(CFTR):c.2245C>T (p.Leu749=) rs151235408 0.00056
NM_001605.3(AARS1):c.600C>T (p.Ala200=) rs150080663 0.00056
NM_001844.5(COL2A1):c.195C>T (p.Asp65=) rs202210896 0.00056
NM_002693.3(POLG):c.1275C>T (p.Ala425=) rs147404477 0.00056
NM_002693.3(POLG):c.798G>T (p.Val266=) rs143631183 0.00056
NM_004006.3(DMD):c.8436T>C (p.Leu2812=) rs139365076 0.00056
NM_004820.5(CYP7B1):c.94G>T (p.Ala32Ser) rs181854355 0.00056
NM_005477.3(HCN4):c.2739G>A (p.Ala913=) rs373411041 0.00056
NM_182961.4(SYNE1):c.7458A>G (p.Gln2486=) rs139070088 0.00056
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637 0.00055
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys) rs72646859 0.00055
NM_001297.5(CNGB1):c.2370-9C>T rs374373659 0.00055
NM_001614.5(ACTG1):c.228C>T (p.Val76=) rs143028649 0.00055
NM_006294.5(UQCRB):c.200T>A (p.Leu67Gln) rs139283183 0.00055
NM_014208.3(DSPP):c.768C>T (p.Asp256=) rs374400491 0.00055
NM_182914.3(SYNE2):c.10392C>T (p.Cys3464=) rs373646325 0.00055
NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val) rs148140756 0.00054
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) rs72646855 0.00054
NM_001353921.2(ARHGEF9):c.1113C>T (p.Gly371=) rs56375542 0.00054
NM_002473.6(MYH9):c.1566G>A (p.Pro522=) rs145517108 0.00054
NM_004380.3(CREBBP):c.2850G>A (p.Thr950=) rs141651423 0.00054
NM_005506.4(SCARB2):c.486C>T (p.Ala162=) rs143518519 0.00054
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=) rs141078449 0.00054
NM_181486.4(TBX5):c.55G>T (p.Ala19Ser) rs200461617 0.00054
NM_182914.3(SYNE2):c.15848A>G (p.Asp5283Gly) rs138797058 0.00054
NM_182961.4(SYNE1):c.1730-7G>A rs367603152 0.00054
NM_000390.4(CHM):c.1244+8T>A rs369829791 0.00053
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183 0.00053
NM_001367721.1(CASK):c.2297G>A (p.Arg766Gln) rs137964936 0.00053
NM_001844.5(COL2A1):c.1300C>T (p.Pro434Ser) rs140985224 0.00053
NM_003482.4(KMT2D):c.6354C>T (p.Pro2118=) rs377392943 0.00053
NM_003482.4(KMT2D):c.9385C>T (p.Pro3129Ser) rs200089754 0.00053
NM_006009.4(TUBA1A):c.4-7C>T rs560491477 0.00053
NM_006922.4(SCN3A):c.1381-4A>G rs199597878 0.00053
NM_014874.4(MFN2):c.756C>T (p.Asn252=) rs137960129 0.00053
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=) rs138986228 0.00053
NM_032119.4(ADGRV1):c.11761G>A (p.Ala3921Thr) rs200576500 0.00053
NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=) rs140936904 0.00052
NM_000553.6(WRN):c.3422C>T (p.Ser1141Leu) rs139323683 0.00052
NM_000875.5(IGF1R):c.3187-5C>T rs45495500 0.00052
NM_001170629.2(CHD8):c.7620C>T (p.Asp2540=) rs367905297 0.00052
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=) rs376810671 0.00052
NM_014319.5(LEMD3):c.292C>T (p.Leu98Phe) rs571742271 0.00052
NM_022455.5(NSD1):c.3000C>T (p.Ser1000=) rs150854966 0.00052
NM_022464.5(SIL1):c.573G>A (p.Lys191=) rs148927511 0.00052
NM_000372.5(TYR):c.504C>T (p.Asn168=) rs148813091 0.00051
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00051
NM_001083961.2(WDR62):c.477G>A (p.Ala159=) rs146485488 0.00051
NM_001267550.2(TTN):c.23378-10C>A rs72648975 0.00051
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580 0.00051
NM_001267550.2(TTN):c.33827-8C>T rs371318311 0.00051
NM_001267550.2(TTN):c.47998G>C (p.Asp16000His) rs201388509 0.00051
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) rs180975448 0.00051
NM_001330078.2(NRXN1):c.1365T>C (p.Leu455=) rs201727684 0.00051
NM_001330260.2(SCN8A):c.1677C>T (p.His559=) rs202212399 0.00051
NM_001844.5(COL2A1):c.1176C>T (p.Arg392=) rs201575114 0.00051
NM_003361.4(UMOD):c.1406C>T (p.Thr469Met) rs143583842 0.00051
NM_003482.4(KMT2D):c.7301C>A (p.Ala2434Asp) rs201114196 0.00051
NM_006180.6(NTRK2):c.31G>T (p.Ala11Ser) rs78936193 0.00051
NM_006946.4(SPTBN2):c.24A>G (p.Thr8=) rs141277535 0.00051
NM_014014.5(SNRNP200):c.4935G>A (p.Val1645=) rs375650263 0.00051
NM_144670.6(A2ML1):c.174_175dup (p.Lys59fs) rs745711489 0.00051
NM_201384.3(PLEC):c.10302C>A (p.Thr3434=) rs199879193 0.00051
NM_001146079.2(CLDN14):c.690C>T (p.His230=) rs149733854 0.00050
NM_003742.4(ABCB11):c.2927A>G (p.Gln976Arg) rs199940188 0.00050
NM_004700.4(KCNQ4):c.708+9T>A rs191389529 0.00050
NM_006493.4(CLN5):c.5C>T (p.Ala2Val) rs146993892 0.00050
NM_024408.4(NOTCH2):c.6363G>C (p.Lys2121Asn) rs144047610 0.00050
NM_001191061.2(SLC25A22):c.327G>A (p.Ala109=) rs141975755 0.00049
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064 0.00049
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile) rs200650668 0.00049
NM_001267550.2(TTN):c.57808G>C (p.Val19270Leu) rs369440319 0.00049
NM_001330260.2(SCN8A):c.4155A>C (p.Thr1385=) rs144424662 0.00049
NM_001378120.1(MBD5):c.4629A>G (p.Gln1543=) rs115145637 0.00049
NM_004407.4(DMP1):c.1107C>T (p.Asp369=) rs147451774 0.00049
NM_006445.4(PRPF8):c.6792G>A (p.Ser2264=) rs369391284 0.00049
NM_017739.4(POMGNT1):c.421-7C>A rs189274856 0.00049
NM_032119.4(ADGRV1):c.2112G>A (p.Pro704=) rs182990046 0.00049
NM_033337.3(CAV3):c.276C>T (p.Phe92=) rs72546669 0.00049
NM_033337.3(CAV3):c.443G>A (p.Arg148Gln) rs140575619 0.00049
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=) rs80359810 0.00048
NM_000503.6(EYA1):c.1699-8T>C rs201537030 0.00048
NM_000719.7(CACNA1C):c.5150C>G (p.Ala1717Gly) rs201492706 0.00048
NM_001035.3(RYR2):c.10231-4T>C rs117180147 0.00048
NM_001165963.4(SCN1A):c.4872G>A (p.Leu1624=) rs142910512 0.00048
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) rs751749989 0.00048
NM_004187.5(KDM5C):c.465C>T (p.Ser155=) rs138520224 0.00048
NM_004463.3(FGD1):c.2816A>C (p.Glu939Ala) rs147012050 0.00048
NM_006005.3(WFS1):c.2424C>T (p.Ser808=) rs56035336 0.00048
NM_006922.4(SCN3A):c.642G>A (p.Ala214=) rs575814709 0.00048
NM_018006.5(TRMU):c.772+8G>A rs201372242 0.00048
NM_018129.4(PNPO):c.723C>G (p.Ser241=) rs144362146 0.00048
NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys) rs147306623 0.00048
NM_032119.4(ADGRV1):c.10149C>T (p.Ser3383=) rs376298949 0.00048
NM_133433.4(NIPBL):c.615G>A (p.Ser205=) rs150678035 0.00048
NM_170707.4(LMNA):c.789G>A (p.Leu263=) rs148557956 0.00048
NM_201384.3(PLEC):c.963C>T (p.Phe321=) rs368425406 0.00048
NM_000180.4(GUCY2D):c.164C>T (p.Thr55Met) rs201414567 0.00047
NM_000208.4(INSR):c.41T>C (p.Leu14Pro) rs745857330 0.00047
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln) rs140714512 0.00047
NM_003482.4(KMT2D):c.1149C>T (p.Asp383=) rs201709328 0.00047
NM_005120.3(MED12):c.2613G>A (p.Gln871=) rs372344160 0.00047
NM_007254.4(PNKP):c.519C>T (p.Asp173=) rs144284975 0.00047
NM_014014.5(SNRNP200):c.6369C>T (p.Ser2123=) rs61753580 0.00047
NM_024426.6(WT1):c.1131T>C (p.Pro377=) rs151034312 0.00047
NM_000742.4(CHRNA2):c.1530C>T (p.Ile510=) rs149142237 0.00046
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=) rs373721253 0.00046
NM_001267550.2(TTN):c.33G>A (p.Pro11=) rs138331646 0.00046
NM_001267550.2(TTN):c.37408G>T (p.Val12470Leu) rs398124448 0.00046
NM_001267550.2(TTN):c.65276-8T>C rs377484398 0.00046
NM_001267550.2(TTN):c.88028G>A (p.Arg29343His) rs73036368 0.00046
NM_001372044.2(SHANK3):c.4259C>T (p.Pro1420Leu) rs73174429 0.00046
NM_001848.3(COL6A1):c.738+14C>T rs374896651 0.00046
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633 0.00046
NM_004006.3(DMD):c.2457A>C (p.Leu819=) rs72468680 0.00046
NM_005045.4(RELN):c.7114G>A (p.Val2372Met) rs114344654 0.00046
NM_006420.3(ARFGEF2):c.4462A>T (p.Thr1488Ser) rs151221957 0.00046
NM_006517.5(SLC16A2):c.1596C>T (p.Ser532=) rs199904356 0.00046
NM_007254.4(PNKP):c.672C>T (p.Arg224=) rs151180981 0.00046
NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559 0.00046
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met) rs199988872 0.00046
NM_153704.6(TMEM67):c.369C>T (p.Ala123=) rs115640152 0.00046
NM_172107.4(KCNQ2):c.1827C>T (p.Ala609=) rs369438374 0.00046
NM_000026.4(ADSL):c.702-7T>C rs201509960 0.00045
NM_000095.3(COMP):c.763-8T>C rs374063820 0.00045
NM_000214.3(JAG1):c.1755C>T (p.Asn585=) rs142808131 0.00045
NM_000719.7(CACNA1C):c.2766G>A (p.Pro922=) rs184684058 0.00045
NM_001042432.2(CLN3):c.831G>A (p.Val277=) rs1142183 0.00045
NM_001077365.2(POMT1):c.1365+15C>T rs58896330 0.00045
NM_001244008.2(KIF1A):c.3330G>A (p.Ala1110=) rs200149062 0.00045
NM_001267550.2(TTN):c.91311A>G (p.Glu30437=) rs374094732 0.00045
NM_001374385.1(ATP8B1):c.2595C>T (p.Cys865=) rs201885528 0.00045
NM_001458.5(FLNC):c.3966C>T (p.Gly1322=) rs200237564 0.00045
NM_002294.3(LAMP2):c.385G>A (p.Ala129Thr) rs149276836 0.00045
NM_004004.6(GJB2):c.*1C>T rs111033327 0.00045
NM_004006.3(DMD):c.7243C>T (p.Arg2415Cys) rs139395045 0.00045
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=) rs568700183 0.00045
NM_021830.5(TWNK):c.384C>T (p.Ser128=) rs148234280 0.00045
NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln) rs201747452 0.00045
NM_032119.4(ADGRV1):c.8842G>A (p.Ala2948Thr) rs369777874 0.00045
NM_133379.5(TTN):c.12979A>G (p.Ile4327Val) rs144226338 0.00045
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=) rs147774793 0.00044
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser) rs202063628 0.00044
NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys) rs192152102 0.00044
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met) rs201818223 0.00044
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His) rs140250347 0.00044
NM_004817.4(TJP2):c.2880+19C>T rs200384355 0.00044
NM_020433.5(JPH2):c.1380G>A (p.Ala460=) rs531877510 0.00044
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys) rs200955930 0.00044
NM_133497.4(KCNV2):c.80G>A (p.Arg27His) rs145731729 0.00044
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180 0.00043
NM_000540.3(RYR1):c.3111C>T (p.Ser1037=) rs145434723 0.00043
NM_000548.5(TSC2):c.3610+6G>A rs45517301 0.00043
NM_001040142.2(SCN2A):c.4257C>T (p.Ala1419=) rs141153302 0.00043
NM_001083962.2(TCF4):c.341G>A (p.Arg114Lys) rs139876825 0.00043
NM_001127453.2(GSDME):c.1122C>T (p.Pro374=) rs138980048 0.00043
NM_002471.4(MYH6):c.4905C>T (p.Asn1635=) rs143048583 0.00043
NM_005097.4(LGI1):c.717A>C (p.Ile239=) rs146425212 0.00043
NM_005120.3(MED12):c.653C>T (p.Thr218Met) rs369083173 0.00043
NM_013382.7(POMT2):c.1404A>G (p.Lys468=) rs150491326 0.00043
NM_017780.4(CHD7):c.360C>T (p.Gly120=) rs375438732 0.00043
NM_033337.3(CAV3):c.417C>T (p.Val139=) rs147250678 0.00043
NM_201384.3(PLEC):c.12615C>T (p.Ile4205=) rs202116866 0.00043
NM_000138.5(FBN1):c.2148A>G (p.Gly716=) rs141039922 0.00042
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=) rs72648971 0.00042
NM_001267550.2(TTN):c.39044-9T>A rs184888200 0.00042
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val) rs188185141 0.00042
NM_001297.5(CNGB1):c.1631C>T (p.Pro544Leu) rs145234666 0.00042
NM_003482.4(KMT2D):c.14643+12G>A rs186670730 0.00042
NM_004006.3(DMD):c.2824A>G (p.Met942Val) rs371648742 0.00042
NM_130837.3(OPA1):c.2610C>T (p.Thr870=) rs139934030 0.00042
NM_000283.4(PDE6B):c.905G>A (p.Gly302Asp) rs146646008 0.00041
NM_000492.4(CFTR):c.3469-17T>C rs199630678 0.00041
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=) rs373606009 0.00041
NM_001083961.2(WDR62):c.4159C>A (p.Leu1387Ile) rs147652186 0.00041
NM_001130438.3(SPTAN1):c.7233C>T (p.Ser2411=) rs138985089 0.00041
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) rs146970027 0.00041
NM_001267550.2(TTN):c.81105C>A (p.Thr27035=) rs72648212 0.00041
NM_001267550.2(TTN):c.88459G>A (p.Val29487Met) rs200899806 0.00041
NM_001267550.2(TTN):c.92241T>C (p.Gly30747=) rs373311745 0.00041
NM_001429.4(EP300):c.739A>G (p.Met247Val) rs147583157 0.00041
NM_002471.4(MYH6):c.210T>C (p.Thr70=) rs147397431 0.00041
NM_002473.6(MYH9):c.4878C>T (p.Ile1626=) rs143947828 0.00041
NM_014141.6(CNTNAP2):c.3927C>T (p.Ala1309=) rs143856702 0.00041
NM_020822.3(KCNT1):c.2070C>T (p.Gly690=) rs370155559 0.00041
NM_021625.5(TRPV4):c.1491+10C>T rs201815805 0.00041
NM_024747.6(HPS6):c.2250G>A (p.Ser750=) rs139161525 0.00041
NM_030665.4(RAI1):c.1941C>T (p.Ser647=) rs140198185 0.00041
NM_130837.3(OPA1):c.2421G>T (p.Leu807=) rs148047706 0.00041
NM_000214.3(JAG1):c.1920C>T (p.Asn640=) rs372121353 0.00040
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642 0.00040
NM_000742.4(CHRNA2):c.166A>T (p.Thr56Ser) rs144185168 0.00040
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=) rs201206239 0.00040
NM_001368067.1(LDB3):c.771G>A (p.Thr257=) rs144445130 0.00040
NM_003482.4(KMT2D):c.6235-6C>G rs373858319 0.00040
NM_003742.4(ABCB11):c.2087G>A (p.Arg696Gln) rs141862495 0.00040
NM_004380.3(CREBBP):c.6661A>C (p.Met2221Leu) rs200716582 0.00040
NM_004463.3(FGD1):c.281A>G (p.His94Arg) rs189159946 0.00040
NM_006086.4(TUBB3):c.357G>A (p.Val119=) rs34174718 0.00040
NM_007317.3(KIF22):c.1619A>T (p.Gln540Leu) rs148628152 0.00040
NM_015295.3(SMCHD1):c.1957-3C>T rs201069969 0.00040
NM_015295.3(SMCHD1):c.2151G>A (p.Ala717=) rs372945746 0.00040
NM_017780.4(CHD7):c.2751G>A (p.Thr917=) rs369429961 0.00040
NM_019066.5(MAGEL2):c.1175C>T (p.Thr392Met) rs781777662 0.00040
NM_182961.4(SYNE1):c.2065C>A (p.Arg689=) rs139480065 0.00040
NM_201384.3(PLEC):c.8613C>T (p.Cys2871=) rs35821434 0.00040
NM_000142.5(FGFR3):c.252G>A (p.Ser84=) rs367973461 0.00039
NM_000168.6(GLI3):c.2245A>G (p.Ile749Val) rs140048578 0.00039
NM_000540.3(RYR1):c.12852CACGGCGGC[3] (p.4285TAA[3]) rs398123469 0.00039
NM_000742.4(CHRNA2):c.1234G>A (p.Glu412Lys) rs141721605 0.00039
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=) rs202089818 0.00039
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr) rs151249006 0.00039
NM_002381.5(MATN3):c.330C>T (p.Ile110=) rs201755444 0.00039
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) rs146024732 0.00039
NM_006445.4(PRPF8):c.4524C>T (p.Gly1508=) rs144851263 0.00039
NM_139027.6(ADAMTS13):c.2308G>A (p.Val770Met) rs374606481 0.00039
NM_177965.4(CFAP418):c.521A>G (p.Lys174Arg) rs148114532 0.00039
NM_182961.4(SYNE1):c.13572C>T (p.Val4524=) rs111511993 0.00039
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser) rs145038571 0.00038
NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile) rs144691638 0.00038
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=) rs143477661 0.00038
NM_002691.4(POLD1):c.13C>T (p.Arg5Trp) rs9282830 0.00038
NM_004006.3(DMD):c.5181A>T (p.Ile1727=) rs200887855 0.00038
NM_012232.6(CAVIN1):c.168C>A (p.Ser56Arg) rs139531639 0.00038
NM_022367.4(SEMA4A):c.84G>A (p.Thr28=) rs149711133 0.00038
NM_022436.3(ABCG5):c.1365C>T (p.Asp455=) rs141016088 0.00038
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg) rs201857437 0.00038
NM_032119.4(ADGRV1):c.15608A>G (p.Glu5203Gly) rs202106463 0.00038
NM_182961.4(SYNE1):c.12564C>T (p.Ser4188=) rs141202420 0.00038
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171 0.00037
NM_000388.4(CASR):c.2064C>T (p.Phe688=) rs150869744 0.00037
NM_000780.4(CYP7A1):c.123C>T (p.Tyr41=) rs150351766 0.00037
NM_000784.4(CYP27A1):c.1419C>T (p.Val473=) rs138596741 0.00037
NM_001083962.2(TCF4):c.504A>G (p.Val168=) rs370160994 0.00037
NM_001267550.2(TTN):c.98500G>A (p.Glu32834Lys) rs199761901 0.00037
NM_015295.3(SMCHD1):c.2838T>C (p.Ala946=) rs375251871 0.00037
NM_000492.4(CFTR):c.1920T>C (p.Phe640=) rs145877746 0.00036
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775 0.00036
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met) rs74772771 0.00036
NM_001083962.2(TCF4):c.790-9T>C rs373434281 0.00036
NM_001145809.2(MYH14):c.1115-4C>T rs142696359 0.00036
NM_001170629.2(CHD8):c.5402G>A (p.Arg1801His) rs201604061 0.00036
NM_001267550.2(TTN):c.69904G>A (p.Val23302Ile) rs190421400 0.00036
NM_003482.4(KMT2D):c.11037A>G (p.Gln3679=) rs374418866 0.00036
NM_004006.3(DMD):c.6320G>A (p.Arg2107Gln) rs142807436 0.00036
NM_004698.4(PRPF3):c.1032A>G (p.Thr344=) rs143350315 0.00036
NM_005477.3(HCN4):c.2181C>T (p.His727=) rs140354126 0.00036
NM_006516.4(SLC2A1):c.498C>T (p.Val166=) rs150971143 0.00036
NM_006946.4(SPTBN2):c.1719C>T (p.His573=) rs148207416 0.00036
NM_014780.5(CUL7):c.3432G>A (p.Thr1144=) rs144556973 0.00036
NM_017780.4(CHD7):c.6216C>G (p.Pro2072=) rs199828744 0.00036
NM_024422.6(DSC2):c.1914G>C (p.Gln638His) rs147742157 0.00036
NM_025074.7(FRAS1):c.9627C>T (p.Tyr3209=) rs377369857 0.00036
NM_030973.4(MED25):c.135-6T>G rs199743509 0.00036
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000444.6(PHEX):c.2214G>A (p.Thr738=) rs140742016 0.00035
NM_001083961.2(WDR62):c.2976G>A (p.Ser992=) rs757294519 0.00035
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg) rs72648205 0.00035
NM_001330260.2(SCN8A):c.2670C>T (p.Ala890=) rs374452942 0.00035
NM_001378452.1(ITPR1):c.7959C>T (p.Ile2653=) rs371988852 0.00035
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=) rs150237416 0.00035
NM_002381.5(MATN3):c.792G>A (p.Ala264=) rs201563567 0.00035
NM_004006.3(DMD):c.7321A>C (p.Thr2441Pro) rs146817002 0.00035
NM_004385.5(VCAN):c.5859G>T (p.Thr1953=) rs80028865 0.00035
NM_005333.5(HCCS):c.521C>T (p.Ala174Val) rs367601527 0.00035
NM_005881.4(BCKDK):c.1066A>T (p.Ser356Cys) rs142542453 0.00035
NM_012463.4(ATP6V0A2):c.1486G>A (p.Ala496Thr) rs143142641 0.00035
NM_014141.6(CNTNAP2):c.1140T>A (p.Ala380=) rs141439475 0.00035
NM_015629.4(PRPF31):c.540G>A (p.Ser180=) rs148941732 0.00035
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=) rs377217445 0.00035
NM_144631.6(ZNF513):c.519C>T (p.Ser173=) rs199520071 0.00035
NM_000059.4(BRCA2):c.322A>C (p.Asn108His) rs80358567 0.00034
NM_000138.5(FBN1):c.5964C>T (p.Thr1988=) rs113022801 0.00034
NM_000548.5(TSC2):c.681C>T (p.Cys227=) rs45443205 0.00034
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=) rs201200430 0.00034
NM_001164508.2(NEB):c.18530G>A (p.Arg6177His) rs147159176 0.00034
NM_001257180.2(SLC20A2):c.846C>T (p.Asp282=) rs116122164 0.00034
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys) rs199615557 0.00034
NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly) rs199512049 0.00034
NM_001378120.1(MBD5):c.3842C>T (p.Thr1281Ile) rs145475623 0.00034
NM_001852.4(COL9A2):c.2058C>T (p.Ile686=) rs115675008 0.00034
NM_003673.4(TCAP):c.60C>G (p.Ala20=) rs146502276 0.00034
NM_003722.5(TP63):c.678C>T (p.Arg226=) rs61732782 0.00034
NM_004006.3(DMD):c.2539A>G (p.Thr847Ala) rs138145424 0.00034
NM_004519.4(KCNQ3):c.2330G>A (p.Arg777Gln) rs201328910 0.00034
NM_006790.3(MYOT):c.120T>A (p.Ile40=) rs139254363 0.00034
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=) rs138330966 0.00034
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu) rs41272437 0.00034
NM_024757.5(EHMT1):c.1865A>G (p.Asn622Ser) rs184814386 0.00034
NM_024757.5(EHMT1):c.271A>T (p.Ile91Leu) rs144949902 0.00034
NM_153033.5(KCTD7):c.273C>T (p.Ser91=) rs139585796 0.00034
NM_001110556.2(FLNA):c.4179G>A (p.Glu1393=) rs182074603 0.00033
NM_006086.4(TUBB3):c.507C>T (p.Val169=) rs373718068 0.00033
NM_006941.4(SOX10):c.753G>A (p.Ser251=) rs376907937 0.00033
NM_018136.5(ASPM):c.9890C>A (p.Ser3297Tyr) rs201033114 0.00033
NM_000038.6(APC):c.2232T>G (p.Ser744=) rs145751759 0.00032
NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=) rs377388669 0.00032
NM_000443.4(ABCB4):c.1952C>A (p.Thr651Asn) rs45476795 0.00032
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala) rs184769423 0.00032
NM_001191061.2(SLC25A22):c.413-8G>C rs376015598 0.00032
NM_001267550.2(TTN):c.156C>T (p.Pro52=) rs72647842 0.00032
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=) rs184863287 0.00032
NM_001267550.2(TTN):c.72723C>G (p.Val24241=) rs372701206 0.00032
NM_002693.3(POLG):c.3652C>T (p.Leu1218=) rs146301349 0.00032
NM_003742.4(ABCB11):c.1248C>A (p.Ile416=) rs183390670 0.00032
NM_004006.3(DMD):c.8767G>T (p.Ala2923Ser) rs116283249 0.00032
NM_004595.5(SMS):c.978G>A (p.Ser326=) rs150564614 0.00032
NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu) rs145061343 0.00032
NM_021072.4(HCN1):c.240C>A (p.Gly80=) rs373664268 0.00032
NM_021098.3(CACNA1H):c.3555G>A (p.Ala1185=) rs370039255 0.00032
NM_153033.5(KCTD7):c.387C>T (p.Ala129=) rs140932942 0.00032
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256 0.00031
NM_000180.4(GUCY2D):c.921C>T (p.Ala307=) rs148136213 0.00031
NM_001003722.2(GLE1):c.1641T>C (p.Tyr547=) rs77053118 0.00031
NM_001039213.4(CEACAM16):c.1125G>A (p.Ala375=) rs373050209 0.00031
NM_001110219.3(GJB6):c.177A>G (p.Gly59=) rs371123633 0.00031
NM_001110556.2(FLNA):c.1691+7C>A rs199565118 0.00031
NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr) rs34061568 0.00031
NM_001267550.2(TTN):c.26019C>T (p.His8673=) rs370266918 0.00031
NM_001267550.2(TTN):c.63273T>C (p.Asp21091=) rs374168580 0.00031
NM_001267550.2(TTN):c.70491C>T (p.Thr23497=) rs372382315 0.00031
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=) rs139953862 0.00031
NM_001267550.2(TTN):c.86526T>G (p.Val28842=) rs72648226 0.00031
NM_001278116.2(L1CAM):c.630C>T (p.His210=) rs28933683 0.00031
NM_001457.4(FLNB):c.7254C>T (p.Ser2418=) rs563382903 0.00031
NM_003722.5(TP63):c.1827A>G (p.Glu609=) rs147538847 0.00031
NM_004817.4(TJP2):c.3160A>G (p.Thr1054Ala) rs57728054 0.00031
NM_005422.4(TECTA):c.3406G>C (p.Asp1136His) rs147890616 0.00031
NM_015922.3(NSDHL):c.773C>T (p.Ser258Leu) rs373717198 0.00031
NM_198525.3(KIF7):c.3665-5G>A rs79532879 0.00031
NM_000093.5(COL5A1):c.3906+10C>T rs183881247 0.00030
NM_000381.4(MID1):c.1988C>T (p.Thr663Ile) rs138558359 0.00030
NM_000414.4(HSD17B4):c.1670A>T (p.Lys557Met) rs73790880 0.00030
NM_001008537.3(NEXMIF):c.133G>A (p.Ala45Thr) rs199960807 0.00030
NM_001267550.2(TTN):c.54207A>G (p.Pro18069=) rs372686070 0.00030
NM_001267550.2(TTN):c.70097T>C (p.Val23366Ala) rs372782502 0.00030
NM_001927.4(DES):c.924C>T (p.Asn308=) rs578191306 0.00030
NM_003392.7(WNT5A):c.417C>T (p.Tyr139=) rs371576999 0.00030
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro) rs587783504 0.00030
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) rs145387010 0.00030
NM_201384.3(PLEC):c.174+10G>A rs181850748 0.00030
NM_000321.3(RB1):c.929G>A (p.Gly310Glu) rs200844292 0.00029
NM_000325.6(PITX2):c.639A>T (p.Ser213=) rs141176394 0.00029
NM_000337.6(SGCD):c.510G>A (p.Glu170=) rs368838376 0.00029
NM_000368.5(TSC1):c.346T>G (p.Leu116Val) rs199620268 0.00029
NM_000523.4(HOXD13):c.135C>T (p.Ser45=) rs757175860 0.00029
NM_000548.5(TSC2):c.5068+9G>A rs45445593 0.00029
NM_000742.4(CHRNA2):c.745G>A (p.Ala249Thr) rs77710085 0.00029
NM_000834.5(GRIN2B):c.2931C>G (p.Asp977Glu) rs147956755 0.00029
NM_001267550.2(TTN):c.27498G>A (p.Ser9166=) rs372528823 0.00029
NM_001267550.2(TTN):c.4208G>C (p.Arg1403Thr) rs531590921 0.00029
NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr) rs201804005 0.00029
NM_001267550.2(TTN):c.88306+8T>C rs369690199 0.00029
NM_001378452.1(ITPR1):c.3921C>T (p.His1307=) rs61757108 0.00029
NM_001384474.1(LOXHD1):c.5400-3C>T rs528236655 0.00029
NM_001854.4(COL11A1):c.1489-5C>A rs370997745 0.00029
NM_002834.5(PTPN11):c.48A>G (p.Ala16=) rs372736227 0.00029
NM_003482.4(KMT2D):c.840-6C>T rs182926808 0.00029
NM_004287.5(GOSR2):c.29+8C>T rs573306680 0.00029
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=) rs146168040 0.00029
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala) rs41286298 0.00029
NM_015311.3(OBSL1):c.1599G>A (p.Thr533=) rs149009269 0.00029
NM_016729.3(FOLR1):c.157T>C (p.Leu53=) rs143413500 0.00029
NM_017780.4(CHD7):c.4437G>A (p.Gly1479=) rs41265246 0.00029
NM_022464.5(SIL1):c.984C>T (p.Leu328=) rs368666457 0.00029
NM_130837.3(OPA1):c.921C>T (p.Asp307=) rs147242797 0.00029
NM_182961.4(SYNE1):c.18870C>T (p.Ser6290=) rs138173087 0.00029
NM_182961.4(SYNE1):c.24660C>T (p.His8220=) rs150811468 0.00029
NM_198129.4(LAMA3):c.7505A>G (p.Asn2502Ser) rs139823161 0.00029
NM_201384.3(PLEC):c.4524G>A (p.Gln1508=) rs370168097 0.00029
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_000275.3(OCA2):c.45G>A (p.Pro15=) rs202091837 0.00028
NM_001110556.2(FLNA):c.2178C>T (p.Asn726=) rs371501734 0.00028
NM_001111125.3(IQSEC2):c.222G>C (p.Arg74=) rs781805662 0.00028
NM_001127644.2(GABRA1):c.441G>T (p.Arg147=) rs190024862 0.00028
NM_001134407.3(GRIN2A):c.1410T>G (p.Thr470=) rs372058698 0.00028
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu) rs185962498 0.00028
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile) rs202160275 0.00028
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=) rs72677223 0.00028
NM_001267550.2(TTN):c.53226T>C (p.Tyr17742=) rs202200861 0.00028
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr) rs146941600 0.00028
NM_001267550.2(TTN):c.99162G>A (p.Lys33054=) rs368686031 0.00028
NM_001278116.2(L1CAM):c.3192G>T (p.Ser1064=) rs142563956 0.00028
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) rs71539657 0.00028
NM_016239.4(MYO15A):c.2225G>T (p.Arg742Leu) rs772776336 0.00028
NM_022464.5(SIL1):c.1167C>T (p.Pro389=) rs199890503 0.00028
NM_130837.3(OPA1):c.2088G>A (p.Ala696=) rs138114609 0.00028
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His) rs80358359 0.00028
NM_144997.7(FLCN):c.1149C>T (p.Leu383=) rs150752548 0.00028
NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg) rs199875457 0.00027
NM_000271.5(NPC1):c.1011G>T (p.Arg337=) rs147795644 0.00027
NM_000744.7(CHRNA4):c.1560C>T (p.Leu520=) rs142646795 0.00027
NM_001267550.2(TTN):c.102696C>T (p.Val34232=) rs202180775 0.00027
NM_001267550.2(TTN):c.41330-7T>A rs373636988 0.00027
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299 0.00027
NM_030665.4(RAI1):c.4043C>T (p.Ala1348Val) rs143396390 0.00027
NM_032119.4(ADGRV1):c.14005T>C (p.Phe4669Leu) rs199792315 0.00027
NM_033380.3(COL4A5):c.3023A>G (p.Lys1008Arg) rs142929745 0.00027
NM_194248.3(OTOF):c.3939G>A (p.Ala1313=) rs149566576 0.00027
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=) rs80359788 0.00026
NM_000218.3(KCNQ1):c.386+14C>T rs370023636 0.00026
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) rs373147966 0.00026
NM_000393.5(COL5A2):c.322+8T>C rs372227642 0.00026
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501 0.00026
NM_000478.6(ALPL):c.1002C>T (p.Gly334=) rs370122334 0.00026
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp) rs45517328 0.00026
NM_001035.3(RYR2):c.8831-9A>C rs187977513 0.00026
NM_001267550.2(TTN):c.101925A>G (p.Leu33975=) rs201246720 0.00026
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=) rs184307461 0.00026
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys) rs199557654 0.00026
NM_001267550.2(TTN):c.28170C>T (p.Leu9390=) rs149910892 0.00026
NM_001267550.2(TTN):c.65534C>T (p.Pro21845Leu) rs201662134 0.00026
NM_001267550.2(TTN):c.69984G>A (p.Ala23328=) rs56052239 0.00026
NM_001267550.2(TTN):c.83133G>A (p.Lys27711=) rs369223412 0.00026
NM_001267550.2(TTN):c.91425C>T (p.Asp30475=) rs145133144 0.00026
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=) rs373206096 0.00026
NM_001330260.2(SCN8A):c.5577C>T (p.Ser1859=) rs185667241 0.00026
NM_001371623.1(TCOF1):c.4418C>T (p.Pro1473Leu) rs148367422 0.00026
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His) rs191293931 0.00026
NM_004187.5(KDM5C):c.3381A>G (p.Lys1127=) rs370000816 0.00026
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719 0.00026
NM_005633.4(SOS1):c.698A>G (p.Asn233Ser) rs144934321 0.00026
NM_015311.3(OBSL1):c.4588C>T (p.Leu1530=) rs201893489 0.00026
NM_020822.3(KCNT1):c.2214G>A (p.Pro738=) rs142424896 0.00026
NM_024757.5(EHMT1):c.2705G>A (p.Arg902Gln) rs377070695 0.00026
NM_182961.4(SYNE1):c.14625G>A (p.Thr4875=) rs140118684 0.00026
NM_000124.4(ERCC6):c.438C>T (p.Ser146=) rs138756386 0.00025
NM_000546.6(TP53):c.704A>G (p.Asn235Ser) rs144340710 0.00025
NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=) rs141633456 0.00025
NM_000719.7(CACNA1C):c.3747C>T (p.Ile1249=) rs370576211 0.00025
NM_001267550.2(TTN):c.52656T>C (p.Pro17552=) rs371031259 0.00025
NM_001429.4(EP300):c.5172C>A (p.Thr1724=) rs142330184 0.00025
NM_002473.6(MYH9):c.1479G>A (p.Gln493=) rs376262583 0.00025
NM_003282.4(TNNI2):c.102G>A (p.Glu34=) rs143863270 0.00025
NM_004006.3(DMD):c.8076A>G (p.Gln2692=) rs144518527 0.00025
NM_005902.4(SMAD3):c.207-10G>A rs201912204 0.00025
NM_015102.5(NPHP4):c.1632C>T (p.Ala544=) rs201903713 0.00025
NM_031407.7(HUWE1):c.8687C>T (p.Ala2896Val) rs142574684 0.00025
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met) rs140559111 0.00024
NM_000392.5(ABCC2):c.3500T>C (p.Val1167Ala) rs140680467 0.00024
NM_000489.6(ATRX):c.5968T>A (p.Ser1990Thr) rs142180002 0.00024
NM_000883.4(IMPDH1):c.624C>G (p.Pro208=) rs758909916 0.00024
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg) rs367857088 0.00024
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=) rs375448572 0.00024
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=) rs190604150 0.00024
NM_001267550.2(TTN):c.88972A>G (p.Ile29658Val) rs200193877 0.00024
NM_001267550.2(TTN):c.90624T>C (p.Asn30208=) rs370479059 0.00024
NM_001458.5(FLNC):c.2733G>A (p.Lys911=) rs374135903 0.00024
NM_002693.3(POLG):c.2541C>T (p.Ala847=) rs143810171 0.00024
NM_002693.3(POLG):c.3482+7G>A rs200309191 0.00024
NM_004006.3(DMD):c.9165G>A (p.Thr3055=) rs137905486 0.00024
NM_015335.5(MED13L):c.5732-3C>T rs370245982 0.00024
NM_015338.6(ASXL1):c.2336C>T (p.Pro779Leu) rs41289850 0.00024
NM_015443.4(KANSL1):c.2725-7A>G rs186818985 0.00024
NM_031407.7(HUWE1):c.6126G>A (p.Gly2042=) rs149577148 0.00024
NM_032119.4(ADGRV1):c.10322G>C (p.Gly3441Ala) rs200464486 0.00024
NM_153033.5(KCTD7):c.687T>C (p.Asp229=) rs372150992 0.00024
NM_182961.4(SYNE1):c.11355G>A (p.Arg3785=) rs151081036 0.00024
NM_000382.3(ALDH3A2):c.1108-3C>T rs148944691 0.00023
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788 0.00023
NM_001267550.2(TTN):c.51678C>T (p.Asn17226=) rs372635204 0.00023
NM_001267550.2(TTN):c.59344+3G>A rs142095604 0.00023
NM_003482.4(KMT2D):c.5181C>T (p.Pro1727=) rs201686029 0.00023
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=) rs144434028 0.00023
NM_182961.4(SYNE1):c.9807+5C>T rs185350092 0.00023
NM_000252.3(MTM1):c.1052A>G (p.Lys351Arg) rs150430628 0.00022
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=) rs374307014 0.00022
NM_001134407.3(GRIN2A):c.3702C>T (p.Phe1234=) rs372083517 0.00022
NM_001177316.2(SLC34A3):c.1473C>T (p.Tyr491=) rs148095831 0.00022
NM_001267550.2(TTN):c.96015C>T (p.Pro32005=) rs183620684 0.00022
NM_001297.5(CNGB1):c.838-4G>T rs375539469 0.00022
NM_001378120.1(MBD5):c.276A>G (p.Ala92=) rs141855494 0.00022
NM_001378414.1(HDAC4):c.2151G>A (p.Gln717=) rs138137158 0.00022
NM_001379110.1(SLC9A6):c.1083G>A (p.Leu361=) rs151178361 0.00022
NM_001493.3(GDI1):c.1167C>T (p.Pro389=) rs140855833 0.00022
NM_002087.4(GRN):c.1253G>A (p.Arg418Gln) rs63751100 0.00022
NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser) rs758633794 0.00022
NM_006950.3(SYN1):c.1569G>A (p.Ala523=) rs587781185 0.00022
NM_022437.3(ABCG8):c.322+6G>A rs181319879 0.00022
NM_024301.5(FKRP):c.885C>T (p.Arg295=) rs769005880 0.00022
NM_032119.4(ADGRV1):c.6443C>T (p.Ala2148Val) rs375921325 0.00022
NM_139058.3(ARX):c.336A>G (p.Ala112=) rs794727308 0.00022
NM_201384.3(PLEC):c.3958C>T (p.Arg1320Cys) rs372256096 0.00022
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995 0.00021
NM_000444.6(PHEX):c.1202C>T (p.Pro401Leu) rs145778165 0.00021
NM_000458.4(HNF1B):c.750C>T (p.Tyr250=) rs144249535 0.00021
NM_000492.4(CFTR):c.1312A>G (p.Thr438Ala) rs201434579 0.00021
NM_000744.7(CHRNA4):c.1635G>A (p.Thr545=) rs121912283 0.00021
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr) rs150721582 0.00021
NM_001083961.2(WDR62):c.820T>G (p.Tyr274Asp) rs746156911 0.00021
NM_001267550.2(TTN):c.28644G>A (p.Thr9548=) rs376744914 0.00021
NM_001267550.2(TTN):c.62280T>C (p.Val20760=) rs372065796 0.00021
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr) rs200766837 0.00021
NM_001278116.2(L1CAM):c.963C>T (p.Ala321=) rs145823218 0.00021
NM_001384474.1(LOXHD1):c.1944C>T (p.Ser648=) rs369039902 0.00021
NM_001492.6(GDF1):c.485G>A (p.Gly162Asp) rs121434424 0.00021
NM_001927.4(DES):c.736-8C>A rs140375681 0.00021
NM_002900.3(RBP3):c.1514A>T (p.His505Leu) rs201808774 0.00021
NM_003282.4(TNNI2):c.333A>G (p.Pro111=) rs201133081 0.00021
NM_003722.5(TP63):c.504C>T (p.Asn168=) rs141278696 0.00021
NM_004463.3(FGD1):c.1563C>T (p.Pro521=) rs201996522 0.00021
NM_004519.4(KCNQ3):c.2462A>G (p.Asn821Ser) rs118192254 0.00021
NM_006329.4(FBLN5):c.621T>C (p.Asp207=) rs200178859 0.00021
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=) rs61743849 0.00021
NM_018136.5(ASPM):c.7114A>G (p.Arg2372Gly) rs190693455 0.00021
NM_018136.5(ASPM):c.8452G>T (p.Ala2818Ser) rs188955444 0.00021
NM_033380.3(COL4A5):c.3296C>T (p.Ser1099Phe) rs767087695 0.00021
NM_133379.5(TTN):c.16020T>C (p.His5340=) rs200378944 0.00021
NM_182961.4(SYNE1):c.16296G>A (p.Arg5432=) rs144376043 0.00021
NM_000117.3(EMD):c.428C>T (p.Ser143Phe) rs139983160 0.00020
NM_000124.4(ERCC6):c.2048G>A (p.Arg683Gln) rs148845653 0.00020
NM_001170629.2(CHD8):c.4921+5G>A rs377595194 0.00020
NM_001267550.2(TTN):c.21656C>T (p.Ser7219Phe) rs201029552 0.00020
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln) rs149278000 0.00020
NM_005249.5(FOXG1):c.456G>T (p.Gly152=) rs587783637 0.00020
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=) rs202133782 0.00020
NM_024757.5(EHMT1):c.2695A>G (p.Ile899Val) rs144085805 0.00020
NM_174878.3(CLRN1):c.9C>A (p.Ser3Arg) rs187218889 0.00020
NM_182914.3(SYNE2):c.13918-6T>C rs187859624 0.00020
NM_201548.5(CERKL):c.900T>C (p.His300=) rs183252158 0.00020
NM_206933.4(USH2A):c.7038C>T (p.His2346=) rs145718407 0.00020
NM_000026.4(ADSL):c.357+7G>A rs199993991 0.00019
NM_000548.5(TSC2):c.2295C>T (p.Ala765=) rs45509500 0.00019
NM_000719.7(CACNA1C):c.2391G>A (p.Gly797=) rs374857905 0.00019
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=) rs143600636 0.00019
NM_001127222.2(CACNA1A):c.5652C>T (p.Val1884=) rs17846921 0.00019
NM_001165963.4(SCN1A):c.694+10A>G rs373417440 0.00019
NM_001170629.2(CHD8):c.1325G>A (p.Gly442Glu) rs553367989 0.00019
NM_001267550.2(TTN):c.14424G>C (p.Val4808=) rs374479775 0.00019
NM_001267550.2(TTN):c.7957T>C (p.Leu2653=) rs201837864 0.00019
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=) rs376539252 0.00019
NM_001330078.2(NRXN1):c.3129A>G (p.Val1043=) rs200698497 0.00019
NM_001367624.2(ZNF469):c.248C>T (p.Pro83Leu) rs775103017 0.00019
NM_001845.6(COL4A1):c.4098C>T (p.Gly1366=) rs757948524 0.00019
NM_003482.4(KMT2D):c.2214C>T (p.Ser738=) rs201219613 0.00019
NM_004006.3(DMD):c.4072-3T>C rs751657094 0.00019
NM_004006.3(DMD):c.6471T>A (p.Thr2157=) rs377080659 0.00019
NM_005559.4(LAMA1):c.8447G>A (p.Arg2816Gln) rs200996196 0.00019
NM_006922.4(SCN3A):c.363T>C (p.Ala121=) rs145171998 0.00019
NM_012254.3(SLC27A5):c.2070C>G (p.Leu690=) rs184994408 0.00019
NM_014141.6(CNTNAP2):c.1455T>C (p.Asn485=) rs370095062 0.00019
NM_014251.3(SLC25A13):c.1354G>A (p.Val452Ile) rs143877538 0.00019
NM_020822.3(KCNT1):c.474G>A (p.Ser158=) rs139076605 0.00019
NM_024009.3(GJB3):c.547G>A (p.Glu183Lys) rs74315318 0.00019
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe) rs193030567 0.00019
NM_032409.3(PINK1):c.858G>A (p.Pro286=) rs148144773 0.00019
NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu) rs151319255 0.00019
NM_182961.4(SYNE1):c.18480C>T (p.Asp6160=) rs142251671 0.00019
NM_201384.3(PLEC):c.8742C>T (p.Phe2914=) rs201211875 0.00019
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp) rs200138397 0.00018
NM_000719.7(CACNA1C):c.4140+4G>A rs111442547 0.00018
NM_001130438.3(SPTAN1):c.2011+10G>A rs377437879 0.00018
NM_001184880.2(PCDH19):c.1209C>T (p.Ser403=) rs372006606 0.00018
NM_001267550.2(TTN):c.30511+3G>A rs563582627 0.00018
NM_001267550.2(TTN):c.40581A>G (p.Glu13527=) rs775954427 0.00018
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr) rs72646853 0.00018
NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=) rs376532382 0.00018
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=) rs369626133 0.00018
NM_004006.3(DMD):c.2291A>G (p.Asn764Ser) rs199588981 0.00018
NM_004463.3(FGD1):c.2289G>A (p.Lys763=) rs150865566 0.00018
NM_005633.4(SOS1):c.*4C>T rs188849286 0.00018
NM_006218.4(PIK3CA):c.2985C>T (p.Ala995=) rs201884756 0.00018
NM_080680.3(COL11A2):c.2017-5T>G rs200523422 0.00018
NM_182914.3(SYNE2):c.16405C>A (p.Pro5469Thr) rs148492034 0.00018
NM_182961.4(SYNE1):c.24150C>T (p.His8050=) rs140259310 0.00018
NM_194248.3(OTOF):c.4946T>C (p.Ile1649Thr) rs146618661 0.00018
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys) rs138398778 0.00017
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102 0.00017
NM_000548.5(TSC2):c.148A>G (p.Met50Val) rs140618379 0.00017
NM_001083961.2(WDR62):c.1233+7C>G rs537771936 0.00017
NM_001111125.3(IQSEC2):c.2322T>C (p.Tyr774=) rs147706810 0.00017
NM_001267550.2(TTN):c.687T>C (p.Phe229=) rs376527094 0.00017
NM_001614.5(ACTG1):c.825C>T (p.His275=) rs145303691 0.00017
NM_002693.3(POLG):c.2028G>A (p.Ala676=) rs373550219 0.00017
NM_003673.4(TCAP):c.270G>A (p.Pro90=) rs372538567 0.00017
NM_004006.3(DMD):c.5076A>G (p.Thr1692=) rs145181319 0.00017
NM_004463.3(FGD1):c.27C>T (p.Gly9=) rs377441190 0.00017
NM_006766.5(KAT6A):c.1342A>G (p.Ser448Gly) rs149459548 0.00017
NM_014989.7(RIMS1):c.3399-4A>G rs368216570 0.00017
NM_017780.4(CHD7):c.6103+6T>C rs371509438 0.00017
NM_024757.5(EHMT1):c.1947G>A (p.Ser649=) rs139206060 0.00017
NM_033337.3(CAV3):c.234G>A (p.Thr78=) rs148846096 0.00017
NM_182961.4(SYNE1):c.582-9A>G rs200412221 0.00017
NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu) rs140330831 0.00016
NM_000251.3(MSH2):c.1275A>G (p.Glu425=) rs63751650 0.00016
NM_000256.3(MYBPC3):c.246T>C (p.Ile82=) rs372502369 0.00016
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) rs142899308 0.00016
NM_000350.3(ABCA4):c.5312+8G>A rs187953772 0.00016
NM_000368.5(TSC1):c.201A>G (p.Pro67=) rs371555137 0.00016
NM_000540.3(RYR1):c.2319C>T (p.Asp773=) rs374924686 0.00016
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673 0.00016
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594 0.00016
NM_001042472.3(ABHD12):c.787+3G>A rs202150912 0.00016
NM_001130987.2(DYSF):c.225G>A (p.Thr75=) rs200957354 0.00016
NM_001165963.4(SCN1A):c.1797G>A (p.Glu599=) rs145035963 0.00016
NM_001267550.2(TTN):c.100049C>T (p.Thr33350Ile) rs370300135 0.00016
NM_001267550.2(TTN):c.18407G>A (p.Arg6136Gln) rs117551279 0.00016
NM_001267550.2(TTN):c.28741A>G (p.Ile9581Val) rs371826762 0.00016
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=) rs375006117 0.00016
NM_001267550.2(TTN):c.67959T>C (p.Phe22653=) rs72646877 0.00016
NM_001267550.2(TTN):c.85443A>G (p.Ala28481=) rs373326137 0.00016
NM_001267550.2(TTN):c.87771C>A (p.Gly29257=) rs72648230 0.00016
NM_001267550.2(TTN):c.96684C>T (p.Tyr32228=) rs368423941 0.00016
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737 0.00016
NM_002241.5(KCNJ10):c.219G>A (p.Ala73=) rs144495959 0.00016
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln) rs145611571 0.00016
NM_006516.4(SLC2A1):c.972+7del rs531385270 0.00016
NM_006915.3(RP2):c.30G>A (p.Lys10=) rs782402689 0.00016
NM_006922.4(SCN3A):c.2003G>A (p.Gly668Glu) rs199975643 0.00016
NM_014141.6(CNTNAP2):c.3600G>A (p.Ser1200=) rs117876038 0.00016
NM_017780.4(CHD7):c.4851T>C (p.Gly1617=) rs181927766 0.00016
NM_022455.5(NSD1):c.3088T>C (p.Leu1030=) rs61756006 0.00016
NM_030665.4(RAI1):c.4693G>A (p.Val1565Met) rs368106957 0.00016
NM_080680.3(COL11A2):c.4863+7G>A rs200947059 0.00016
NM_170707.4(LMNA):c.1656C>T (p.Asp552=) rs370219874 0.00016
NM_170707.4(LMNA):c.895A>G (p.Ile299Val) rs150924946 0.00016
NM_201384.3(PLEC):c.4446G>A (p.Ala1482=) rs782202249 0.00016
NM_000260.4(MYO7A):c.3404C>A (p.Ser1135Tyr) rs376688581 0.00015
NM_000337.6(SGCD):c.123C>G (p.Leu41=) rs200670993 0.00015
NM_000371.4(TTR):c.384C>T (p.Ala128=) rs143906738 0.00015
NM_000702.4(ATP1A2):c.1092G>A (p.Thr364=) rs55741021 0.00015
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile) rs199473660 0.00015
NM_001110556.2(FLNA):c.1812C>T (p.Asp604=) rs370735674 0.00015
NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln) rs115150240 0.00015
NM_001267550.2(TTN):c.48624T>C (p.Pro16208=) rs72677240 0.00015
NM_003482.4(KMT2D):c.5526T>C (p.Asp1842=) rs137955659 0.00015
NM_017780.4(CHD7):c.6513C>T (p.Ala2171=) rs376020564 0.00015
NM_030665.4(RAI1):c.2422G>A (p.Gly808Arg) rs746952369 0.00015
NM_182961.4(SYNE1):c.25120-6A>G rs201898019 0.00015
NM_194248.3(OTOF):c.446C>T (p.Thr149Met) rs140454738 0.00015
NM_000059.4(BRCA2):c.502C>A (p.Pro168Thr) rs80358726 0.00014
NM_000368.5(TSC1):c.532G>A (p.Val178Ile) rs118203395 0.00014
NM_000548.5(TSC2):c.4493+7C>A rs199943270 0.00014
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=) rs370868704 0.00014
NM_001130438.3(SPTAN1):c.7161-8G>A rs202180736 0.00014
NM_001165963.4(SCN1A):c.579C>T (p.Leu193=) rs116478064 0.00014
NM_001267550.2(TTN):c.102561C>T (p.Tyr34187=) rs375625664 0.00014
NM_001267550.2(TTN):c.103104A>G (p.Leu34368=) rs371535721 0.00014
NM_001267550.2(TTN):c.21197A>G (p.Lys7066Arg) rs553548392 0.00014
NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg) rs367826445 0.00014
NM_001267550.2(TTN):c.39813A>G (p.Pro13271=) rs373429851 0.00014
NM_001267550.2(TTN):c.43260C>T (p.Phe14420=) rs372382546 0.00014
NM_001267550.2(TTN):c.96904+4T>C rs373514079 0.00014
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=) rs371656672 0.00014
NM_001374385.1(ATP8B1):c.2928G>A (p.Ala976=) rs201803908 0.00014
NM_001854.4(COL11A1):c.1522A>G (p.Thr508Ala) rs55851925 0.00014
NM_002472.3(MYH8):c.5293-1G>A rs144785726 0.00014
NM_003482.4(KMT2D):c.2847G>A (p.Pro949=) rs369436545 0.00014
NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe) rs760733415 0.00014
NM_004595.5(SMS):c.661-5C>T rs371972467 0.00014
NM_014141.6(CNTNAP2):c.3741A>C (p.Pro1247=) rs141772824 0.00014
NM_022124.6(CDH23):c.2940G>A (p.Thr980=) rs373631099 0.00014
NM_024757.5(EHMT1):c.1135A>G (p.Lys379Glu) rs146711478 0.00014
NM_025193.4(HSD3B7):c.714C>T (p.His238=) rs147510106 0.00014
NM_030665.4(RAI1):c.1837G>A (p.Gly613Arg) rs200955853 0.00014
NM_033380.3(COL4A5):c.858T>C (p.Gly286=) rs183837448 0.00014
NM_206933.4(USH2A):c.14517G>A (p.Thr4839=) rs397517991 0.00014
NM_000026.4(ADSL):c.735A>T (p.Arg245=) rs143977255 0.00013
NM_000088.4(COL1A1):c.627C>T (p.Gly209=) rs201136122 0.00013
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=) rs142352627 0.00013
NM_000368.5(TSC1):c.3024T>G (p.Asn1008Lys) rs142954164 0.00013
NM_000435.3(NOTCH3):c.3569G>A (p.Arg1190His) rs372241697 0.00013
NM_001031679.3(MSRB3):c.-67G>C rs368104588 0.00013
NM_001035.3(RYR2):c.14703G>C (p.Val4901=) rs201371633 0.00013
NM_001134831.2(AHI1):c.2808A>G (p.Thr936=) rs373772212 0.00013
NM_001267550.2(TTN):c.10115-4G>A rs367648529 0.00013
NM_001267550.2(TTN):c.28131C>T (p.Asn9377=) rs72648997 0.00013
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) rs200944827 0.00013
NM_001267550.2(TTN):c.86935G>A (p.Val28979Ile) rs201687390 0.00013
NM_001267550.2(TTN):c.89708C>G (p.Thr29903Ser) rs72648240 0.00013
NM_001267550.2(TTN):c.95094C>T (p.Ala31698=) rs373509153 0.00013
NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile) rs146199636 0.00013
NM_001845.6(COL4A1):c.2570C>T (p.Ser857Leu) rs145861489 0.00013
NM_001966.4(EHHADH):c.1608G>A (p.Gly536=) rs141355337 0.00013
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala) rs374922166 0.00013
NM_002473.6(MYH9):c.5185G>T (p.Ala1729Ser) rs140662138 0.00013
NM_004006.3(DMD):c.7988C>G (p.Thr2663Arg) rs144103124 0.00013
NM_004006.3(DMD):c.821A>G (p.Tyr274Cys) rs745868830 0.00013
NM_004006.3(DMD):c.8255A>G (p.Tyr2752Cys) rs373832446 0.00013
NM_006269.2(RP1):c.4299A>G (p.Ala1433=) rs148918111 0.00013
NM_006790.3(MYOT):c.342C>T (p.Ser114=) rs34593399 0.00013
NM_014141.6(CNTNAP2):c.1777+7G>A rs770951811 0.00013
NM_015102.5(NPHP4):c.3174C>T (p.Thr1058=) rs374354239 0.00013
NM_017777.4(MKS1):c.1128G>A (p.Thr376=) rs369141016 0.00013
NM_022124.6(CDH23):c.5722G>A (p.Val1908Ile) rs368828743 0.00013
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu) rs139668636 0.00013
NM_170707.4(LMNA):c.1051A>C (p.Arg351=) rs771623461 0.00013
NM_203475.3(PORCN):c.288C>T (p.Gly96=) rs200263603 0.00013
NM_206933.4(USH2A):c.8016G>A (p.Leu2672=) rs368327746 0.00013
NM_000260.4(MYO7A):c.4441+7C>T rs372493678 0.00012
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=) rs201236364 0.00012
NM_001267550.2(TTN):c.19881G>A (p.Ser6627=) rs371495674 0.00012
NM_001267550.2(TTN):c.54321A>G (p.Ala18107=) rs368021072 0.00012
NM_001267550.2(TTN):c.56850G>A (p.Val18950=) rs368068200 0.00012
NM_001267550.2(TTN):c.71373T>G (p.Leu23791=) rs56245285 0.00012
NM_001267550.2(TTN):c.77052C>T (p.Gly25684=) rs372543652 0.00012
NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=) rs141133453 0.00012
NM_002547.3(OPHN1):c.1184A>G (p.Asn395Ser) rs150084635 0.00012
NM_002979.5(SCP2):c.1469-10T>C rs761545816 0.00012
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val) rs200912109 0.00012
NM_004006.3(DMD):c.7820A>T (p.Lys2607Met) rs72466581 0.00012
NM_004006.3(DMD):c.9033G>A (p.Pro3011=) rs774722438 0.00012
NM_004006.3(DMD):c.9479G>A (p.Arg3160His) rs771392678 0.00012
NM_005477.3(HCN4):c.621C>G (p.Arg207=) rs727503958 0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_014795.4(ZEB2):c.2084G>A (p.Arg695Gln) rs147693839 0.00012
NM_017739.4(POMGNT1):c.960C>G (p.Arg320=) rs146933218 0.00012
NM_017780.4(CHD7):c.5310T>C (p.Asp1770=) rs377723386 0.00012
NM_182961.4(SYNE1):c.20142C>T (p.Ser6714=) rs201908045 0.00012
NM_201384.3(PLEC):c.5761C>T (p.Arg1921Trp) rs201278290 0.00012
NM_000051.4(ATM):c.2346A>G (p.Leu782=) rs730881285 0.00011
NM_000214.3(JAG1):c.3329A>C (p.Asn1110Thr) rs150811951 0.00011
NM_000266.4(NDP):c.11A>T (p.His4Leu) rs149708528 0.00011
NM_000834.5(GRIN2B):c.3076G>A (p.Gly1026Ser) rs201963596 0.00011
NM_000891.3(KCNJ2):c.168T>C (p.Val56=) rs370111593 0.00011
NM_000891.3(KCNJ2):c.616G>A (p.Gly206Ser) rs141035459 0.00011
NM_001127222.2(CACNA1A):c.1782-6C>T rs201350764 0.00011
NM_001165963.4(SCN1A):c.1680T>C (p.Arg560=) rs145662732 0.00011
NM_001182.5(ALDH7A1):c.1263G>A (p.Ala421=) rs587780850 0.00011
NM_001267550.2(TTN):c.16716A>G (p.Pro5572=) rs367821526 0.00011
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly) rs370812788 0.00011
NM_001267550.2(TTN):c.48353A>G (p.Asp16118Gly) rs376273101 0.00011
NM_001267550.2(TTN):c.66051G>A (p.Val22017=) rs587780981 0.00011
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=) rs72646889 0.00011
NM_001267550.2(TTN):c.80553C>T (p.Phe26851=) rs189790119 0.00011
NM_001267550.2(TTN):c.80554C>T (p.Arg26852Cys) rs185887755 0.00011
NM_001267550.2(TTN):c.98556T>C (p.Gly32852=) rs373853269 0.00011
NM_002693.3(POLG):c.1066C>T (p.Leu356=) rs371431444 0.00011
NM_004977.3(KCNC3):c.23C>G (p.Ser8Trp) rs761806977 0.00011
NM_005477.3(HCN4):c.3117G>A (p.Pro1039=) rs749785521 0.00011
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250 0.00011
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280 0.00011
NM_014714.4(IFT140):c.3874-10A>C rs761503137 0.00011
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg) rs563858170 0.00011
NM_022437.3(ABCG8):c.1212-7T>A rs759300542 0.00011
NM_032043.3(BRIP1):c.249A>G (p.Gln83=) rs45528833 0.00011
NM_032119.4(ADGRV1):c.7806C>G (p.Pro2602=) rs200241260 0.00011
NM_153033.5(KCTD7):c.621C>A (p.Leu207=) rs376944331 0.00011
NM_172107.4(KCNQ2):c.1301+7C>T rs374877247 0.00011
NM_201384.3(PLEC):c.2064G>A (p.Pro688=) rs374590279 0.00011
NM_000257.4(MYH7):c.1191G>A (p.Lys397=) rs139506719 0.00010
NM_000719.7(CACNA1C):c.4624-8G>A rs529345041 0.00010
NM_001191061.2(SLC25A22):c.414C>T (p.Ala138=) rs199887745 0.00010
NM_001267550.2(TTN):c.3864T>G (p.Ala1288=) rs368702156 0.00010
NM_001267550.2(TTN):c.49278T>C (p.Ala16426=) rs372633280 0.00010
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu) rs200778464 0.00010
NM_001267550.2(TTN):c.66123A>G (p.Pro22041=) rs727504190 0.00010
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=) rs369503828 0.00010
NM_001267550.2(TTN):c.80854G>A (p.Val26952Ile) rs371362606 0.00010
NM_001267550.2(TTN):c.93981C>G (p.Val31327=) rs370894846 0.00010
NM_001278116.2(L1CAM):c.1993C>G (p.Leu665Val) rs199592861 0.00010
NM_001376.5(DYNC1H1):c.13557G>A (p.Ala4519=) rs35546990 0.00010
NM_001854.4(COL11A1):c.2322G>A (p.Lys774=) rs140608161 0.00010
NM_002693.3(POLG):c.2724C>T (p.Ala908=) rs377390914 0.00010
NM_004006.3(DMD):c.3432+10A>G rs746260475 0.00010
NM_004006.3(DMD):c.606C>T (p.Ile202=) rs138335295 0.00010
NM_004006.3(DMD):c.7323T>C (p.Thr2441=) rs201919981 0.00010
NM_005249.5(FOXG1):c.594C>G (p.Pro198=) rs141088742 0.00010
NM_014141.6(CNTNAP2):c.755-5C>T rs369675346 0.00010
NM_178138.6(LHX3):c.198C>G (p.Ala66=) rs190916587 0.00010
NM_182961.4(SYNE1):c.21924G>A (p.Glu7308=) rs371017408 0.00010
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945 0.00009
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817 0.00009
NM_000093.5(COL5A1):c.804C>T (p.Gly268=) rs147729713 0.00009
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu) rs199505265 0.00009
NM_000463.3(UGT1A1):c.189C>T (p.Asp63=) rs191471887 0.00009
NM_000719.7(CACNA1C):c.3969C>T (p.Ile1323=) rs201345843 0.00009
NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=) rs563090568 0.00009
NM_001040142.2(SCN2A):c.3579C>A (p.Leu1193=) rs367546924 0.00009
NM_001077365.2(POMT1):c.1149C>T (p.His383=) rs202121299 0.00009
NM_001127222.2(CACNA1A):c.2867G>T (p.Arg956Leu) rs551380805 0.00009
NM_001191061.2(SLC25A22):c.579G>A (p.Thr193=) rs141430143 0.00009
NM_001199799.2(ILDR1):c.792G>A (p.Pro264=) rs186672543 0.00009
NM_001206979.2(NR1H4):c.795C>T (p.Asn265=) rs147030757 0.00009
NM_001267550.2(TTN):c.25569C>T (p.Ala8523=) rs375022009 0.00009
NM_001267550.2(TTN):c.30309T>C (p.Phe10103=) rs762141482 0.00009
NM_001267550.2(TTN):c.44589G>A (p.Thr14863=) rs369800903 0.00009
NM_001267550.2(TTN):c.52317A>G (p.Lys17439=) rs370450339 0.00009
NM_001267550.2(TTN):c.57544+7dup rs750881309 0.00009
NM_001276345.2(TNNT2):c.837C>T (p.Asn279=) rs376923877 0.00009
NM_001277313.2(FMN1):c.2044-1533T>G rs200018358 0.00009
NM_001379081.2(FREM1):c.571G>A (p.Gly191Arg) rs370556388 0.00009
NM_001614.5(ACTG1):c.231C>T (p.Thr77=) rs375450454 0.00009
NM_001927.4(DES):c.642C>T (p.Asp214=) rs370239228 0.00009
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=) rs147633551 0.00009
NM_002693.3(POLG):c.2220C>T (p.Asn740=) rs141538857 0.00009
NM_004369.4(COL6A3):c.3507C>T (p.Asn1169=) rs138426138 0.00009
NM_004380.3(CREBBP):c.1369A>G (p.Ile457Val) rs369459749 0.00009
NM_004519.4(KCNQ3):c.954C>A (p.Gly318=) rs143224896 0.00009
NM_005902.4(SMAD3):c.885G>A (p.Arg295=) rs139616052 0.00009
NM_006941.4(SOX10):c.574G>A (p.Gly192Ser) rs200475773 0.00009
NM_014363.6(SACS):c.1255A>G (p.Ile419Val) rs767818359 0.00009
NM_014363.6(SACS):c.2996T>C (p.Ile999Thr) rs371869943 0.00009
NM_015338.6(ASXL1):c.2387G>C (p.Trp796Ser) rs770674396 0.00009
NM_018006.5(TRMU):c.351T>C (p.Asn117=) rs117710834 0.00009
NM_022437.3(ABCG8):c.870C>T (p.Thr290=) rs117221284 0.00009
NM_022455.5(NSD1):c.1364T>C (p.Met455Thr) rs143585233 0.00009
NM_024596.5(MCPH1):c.1458A>G (p.Lys486=) rs192003514 0.00009
NM_030662.4(MAP2K2):c.919+4C>T rs763424788 0.00009
NM_153676.4(USH1C):c.2124T>C (p.Ser708=) rs369021714 0.00009
NM_172364.5(CACNA2D4):c.1968C>T (p.His656=) rs200706568 0.00009
NM_201384.3(PLEC):c.11418C>T (p.Thr3806=) rs559510708 0.00009
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478 0.00008
NM_000444.6(PHEX):c.1917C>A (p.Thr639=) rs201343697 0.00008
NM_000535.7(PMS2):c.2127C>T (p.Phe709=) rs199943748 0.00008
NM_000719.7(CACNA1C):c.5529T>C (p.His1843=) rs371831239 0.00008
NM_001008537.3(NEXMIF):c.2672A>G (p.Asn891Ser) rs186535459 0.00008
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=) rs187423999 0.00008
NM_001193315.2(VIPAS39):c.1254T>C (p.Asn418=) rs188105111 0.00008
NM_001267550.2(TTN):c.13520T>C (p.Met4507Thr) rs191968963 0.00008
NM_001267550.2(TTN):c.21276C>T (p.Thr7092=) rs372264428 0.00008
NM_001267550.2(TTN):c.31071C>T (p.His10357=) rs368973334 0.00008
NM_001267550.2(TTN):c.54855G>A (p.Thr18285=) rs200410212 0.00008
NM_001267550.2(TTN):c.76610G>A (p.Arg25537His) rs561977468 0.00008
NM_001267550.2(TTN):c.80859G>A (p.Thr26953=) rs771257647 0.00008
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile) rs200476500 0.00008
NM_001330078.2(NRXN1):c.2037G>A (p.Pro679=) rs199714221 0.00008
NM_001330078.2(NRXN1):c.498G>A (p.Ala166=) rs201212909 0.00008
NM_001367721.1(CASK):c.1718C>T (p.Thr573Ile) rs141840001 0.00008
NM_001458.5(FLNC):c.4488T>C (p.Asn1496=) rs377258966 0.00008
NM_001844.5(COL2A1):c.3952G>A (p.Glu1318Lys) rs781229123 0.00008
NM_004519.4(KCNQ3):c.1935A>G (p.Gln645=) rs587781011 0.00008
NM_006516.4(SLC2A1):c.987G>A (p.Glu329=) rs201989024 0.00008
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys) rs749383532 0.00008
NM_015102.5(NPHP4):c.2952G>A (p.Thr984=) rs375493384 0.00008
NM_017780.4(CHD7):c.5439C>T (p.Pro1813=) rs373869399 0.00008
NM_018941.4(CLN8):c.522C>T (p.Cys174=) rs148417620 0.00008
NM_022455.5(NSD1):c.7597C>G (p.Leu2533Val) rs398124386 0.00008
NM_024301.5(FKRP):c.54T>A (p.Leu18=) rs565563742 0.00008
NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys) rs150305490 0.00008
NM_080680.3(COL11A2):c.2300A>G (p.Glu767Gly) rs775641112 0.00008
NM_144596.4(TTC8):c.267C>A (p.Arg89=) rs200113889 0.00008
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079 0.00008
NM_182961.4(SYNE1):c.5488T>C (p.Leu1830=) rs118022241 0.00008
NM_000059.4(BRCA2):c.1167G>A (p.Pro389=) rs148607710 0.00007
NM_000117.3(EMD):c.400-9C>T rs782061626 0.00007
NM_000337.6(SGCD):c.402T>C (p.Ala134=) rs190935424 0.00007
NM_000455.5(STK11):c.357C>T (p.Asn119=) rs372511774 0.00007
NM_001032221.6(STXBP1):c.1404C>A (p.Ile468=) rs777499631 0.00007
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met) rs398123617 0.00007
NM_001142864.4(PIEZO1):c.7381G>A (p.Glu2461Lys) rs371391349 0.00007
NM_001267550.2(TTN):c.33340+5A>C rs373367032 0.00007
NM_001267550.2(TTN):c.52890C>T (p.Thr17630=) rs374228930 0.00007
NM_001267550.2(TTN):c.77043T>C (p.Tyr25681=) rs370810609 0.00007
NM_001267550.2(TTN):c.77073T>C (p.Asp25691=) rs375398118 0.00007
NM_001367721.1(CASK):c.1669-8C>G rs201327474 0.00007
NM_003482.4(KMT2D):c.10966C>T (p.Arg3656Cys) rs201283589 0.00007
NM_003482.4(KMT2D):c.1112+19C>T rs398123703 0.00007
NM_003491.4(NAA10):c.564G>A (p.Pro188=) rs150971216 0.00007
NM_004187.5(KDM5C):c.4304G>A (p.Arg1435His) rs782413552 0.00007
NM_004463.3(FGD1):c.440G>A (p.Arg147His) rs200707592 0.00007
NM_005559.4(LAMA1):c.3256G>A (p.Asp1086Asn) rs201831309 0.00007
NM_006516.4(SLC2A1):c.258C>T (p.Phe86=) rs147319894 0.00007
NM_015884.4(MBTPS2):c.706A>G (p.Ile236Val) rs369520528 0.00007
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=) rs147576338 0.00007
NM_181303.2(NLGN3):c.282G>A (p.Ser94=) rs143817848 0.00007
NM_000038.6(APC):c.1005A>G (p.Leu335=) rs3797704 0.00006
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=) rs41293473 0.00006
NM_000138.5(FBN1):c.7902C>T (p.Pro2634=) rs138621371 0.00006
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu) rs144995231 0.00006
NM_000251.3(MSH2):c.2400A>G (p.Leu800=) rs201298777 0.00006
NM_000257.4(MYH7):c.1000-7C>T rs200129563 0.00006
NM_000257.4(MYH7):c.4182C>T (p.Ala1394=) rs765895405 0.00006
NM_000257.4(MYH7):c.714C>T (p.Asn238=) rs202141819 0.00006
NM_000310.4(PPT1):c.*6G>A rs113082671 0.00006
NM_000314.8(PTEN):c.720C>T (p.Tyr240=) rs190070312 0.00006
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) rs185040406 0.00006
NM_000390.4(CHM):c.957A>G (p.Thr319=) rs373242750 0.00006
NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val) rs28943590 0.00006
NM_001029883.3(PCARE):c.1215C>T (p.Gly405=) rs754808908 0.00006
NM_001032221.6(STXBP1):c.1320C>T (p.Ile440=) rs370249358 0.00006
NM_001040142.2(SCN2A):c.3456C>T (p.Ala1152=) rs144325450 0.00006
NM_001127644.2(GABRA1):c.704-10T>C rs188133840 0.00006
NM_001130823.3(DNMT1):c.3806+6C>T rs371779379 0.00006
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr) rs201079458 0.00006
NM_001165963.4(SCN1A):c.4724G>A (p.Arg1575His) rs368834365 0.00006
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln) rs199531140 0.00006
NM_001267550.2(TTN):c.17686G>A (p.Glu5896Lys) rs561557554 0.00006
NM_001267550.2(TTN):c.47598A>G (p.Leu15866=) rs879099244 0.00006
NM_001267550.2(TTN):c.49406T>A (p.Leu16469His) rs72677245 0.00006
NM_001267550.2(TTN):c.49758T>C (p.Tyr16586=) rs72677247 0.00006
NM_001267550.2(TTN):c.55809G>A (p.Pro18603=) rs750472100 0.00006
NM_001267550.2(TTN):c.64673-5T>C rs530496528 0.00006
NM_001267550.2(TTN):c.75099C>T (p.Asp25033=) rs370272814 0.00006
NM_001330078.2(NRXN1):c.2730G>A (p.Lys910=) rs192909520 0.00006
NM_001367721.1(CASK):c.1315-10A>G rs375004542 0.00006
NM_001457.4(FLNB):c.1946G>A (p.Arg649Gln) rs145910735 0.00006
NM_001793.6(CDH3):c.1704G>A (p.Thr568=) rs561193756 0.00006
NM_001999.4(FBN2):c.3045C>T (p.Pro1015=) rs371640952 0.00006
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=) rs190546350 0.00006
NM_002693.3(POLG):c.2601T>C (p.Pro867=) rs201749977 0.00006
NM_002693.3(POLG):c.3216C>G (p.Thr1072=) rs146936870 0.00006
NM_002693.3(POLG):c.3450C>T (p.Ala1150=) rs774880085 0.00006
NM_002734.5(PRKAR1A):c.798G>A (p.Thr266=) rs201774040 0.00006
NM_003482.4(KMT2D):c.4986C>T (p.Cys1662=) rs143063879 0.00006
NM_003673.4(TCAP):c.132C>T (p.Asp44=) rs397516861 0.00006
NM_003722.5(TP63):c.1083G>A (p.Lys361=) rs148937466 0.00006
NM_006015.6(ARID1A):c.5246G>A (p.Arg1749Lys) rs370901533 0.00006
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735 0.00006
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe) rs41286294 0.00006
NM_014989.7(RIMS1):c.1533G>A (p.Pro511=) rs201473375 0.00006
NM_014989.7(RIMS1):c.4506-5G>A rs201556693 0.00006
NM_016366.3(CABP2):c.345C>A (p.Thr115=) rs376093439 0.00006
NM_017780.4(CHD7):c.90G>A (p.Pro30=) rs374464240 0.00006
NM_024757.5(EHMT1):c.2442C>T (p.Ala814=) rs772286870 0.00006
NM_025074.7(FRAS1):c.39G>A (p.Ala13=) rs773457837 0.00006
NM_030665.4(RAI1):c.3689C>A (p.Ala1230Glu) rs374187267 0.00006
NM_030665.4(RAI1):c.5528T>C (p.Phe1843Ser) rs145732429 0.00006
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603 0.00006
NM_000093.5(COL5A1):c.1896C>T (p.Phe632=) rs376478864 0.00005
NM_000117.3(EMD):c.525C>T (p.Ser175=) rs782367505 0.00005
NM_000138.5(FBN1):c.6852T>C (p.Pro2284=) rs201226058 0.00005
NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val) rs202240409 0.00005
NM_000214.3(JAG1):c.2781C>T (p.Val927=) rs746664646 0.00005
NM_000214.3(JAG1):c.3521C>T (p.Pro1174Leu) rs775363555 0.00005
NM_000368.5(TSC1):c.1921C>T (p.Pro641Ser) rs374222196 0.00005
NM_000381.4(MID1):c.1663A>C (p.Ile555Leu) rs398123341 0.00005
NM_000381.4(MID1):c.99C>T (p.Cys33=) rs727504015 0.00005
NM_001037.5(SCN1B):c.561C>T (p.Ala187=) rs587781152 0.00005
NM_001048174.2(MUTYH):c.99G>A (p.Lys33=) rs375084663 0.00005
NM_001267550.2(TTN):c.3030C>T (p.Ser1010=) rs374346637 0.00005
NM_001267550.2(TTN):c.50385T>C (p.Gly16795=) rs374672630 0.00005
NM_001367721.1(CASK):c.42G>C (p.Leu14=) rs377590077 0.00005
NM_002473.6(MYH9):c.3213C>T (p.Ile1071=) rs552133535 0.00005
NM_003491.4(NAA10):c.201G>C (p.Val67=) rs375971315 0.00005
NM_003742.4(ABCB11):c.3214-6C>G rs750991541 0.00005
NM_004006.3(DMD):c.3959C>G (p.Pro1320Arg) rs766977775 0.00005
NM_004463.3(FGD1):c.2047-5C>A rs368646447 0.00005
NM_004463.3(FGD1):c.2314G>A (p.Val772Ile) rs373950992 0.00005
NM_006922.4(SCN3A):c.4899T>A (p.Arg1633=) rs748935500 0.00005
NM_014795.4(ZEB2):c.219C>T (p.His73=) rs778851716 0.00005
NM_015629.4(PRPF31):c.138T>C (p.Asp46=) rs76251057 0.00005
NM_018136.5(ASPM):c.9657T>G (p.Ser3219=) rs756879923 0.00005
NM_022124.6(CDH23):c.330C>T (p.His110=) rs201232514 0.00005
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745 0.00005
NM_172107.4(KCNQ2):c.2087C>T (p.Thr696Met) rs570139975 0.00005
NM_201384.3(PLEC):c.4326G>A (p.Ala1442=) rs369943756 0.00005
NM_000059.4(BRCA2):c.6143A>T (p.Asn2048Ile) rs80358853 0.00004
NM_000214.3(JAG1):c.3651C>T (p.Ile1217=) rs542831744 0.00004
NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=) rs189230866 0.00004
NM_000335.5(SCN5A):c.435C>T (p.Cys145=) rs587781159 0.00004
NM_000388.4(CASR):c.60C>T (p.Tyr20=) rs201564143 0.00004
NM_000399.5(EGR2):c.665T>C (p.Met222Thr) rs530614586 0.00004
NM_000719.7(CACNA1C):c.5424G>A (p.Ala1808=) rs587780881 0.00004
NM_001040142.2(SCN2A):c.2019C>G (p.Gly673=) rs587781156 0.00004
NM_001148.6(ANK2):c.1773T>C (p.Ser591=) rs374775005 0.00004
NM_001267550.2(TTN):c.11910A>T (p.Thr3970=) rs727503660 0.00004
NM_001267550.2(TTN):c.16056T>C (p.Asp5352=) rs376820575 0.00004
NM_001267550.2(TTN):c.19677A>C (p.Ala6559=) rs372654116 0.00004
NM_001267550.2(TTN):c.42672G>T (p.Leu14224=) rs368155350 0.00004
NM_001267550.2(TTN):c.46489G>T (p.Val15497Phe) rs371299188 0.00004
NM_001267550.2(TTN):c.49263C>T (p.Tyr16421=) rs376188859 0.00004
NM_001267550.2(TTN):c.73873T>C (p.Leu24625=) rs545556079 0.00004
NM_001267550.2(TTN):c.80586C>T (p.Ser26862=) rs748292845 0.00004
NM_001267550.2(TTN):c.86538A>T (p.Pro28846=) rs747423090 0.00004
NM_001267550.2(TTN):c.86949A>G (p.Glu28983=) rs375565646 0.00004
NM_001267550.2(TTN):c.90237C>T (p.His30079=) rs756663688 0.00004
NM_001267550.2(TTN):c.9402C>T (p.Asn3134=) rs587780987 0.00004
NM_001278116.2(L1CAM):c.386G>A (p.Arg129Gln) rs200809259 0.00004
NM_002397.5(MEF2C):c.1332C>T (p.His444=) rs376439815 0.00004
NM_002485.5(NBN):c.1089C>T (p.Tyr363=) rs121908974 0.00004
NM_002693.3(POLG):c.2487C>T (p.Pro829=) rs147563527 0.00004
NM_003482.4(KMT2D):c.12712C>T (p.Arg4238Cys) rs398123714 0.00004
NM_003742.4(ABCB11):c.2908C>T (p.Pro970Ser) rs779096015 0.00004
NM_003846.3(PEX11B):c.374+9T>C rs200094067 0.00004
NM_004006.3(DMD):c.3217G>A (p.Glu1073Lys) rs398123931 0.00004
NM_004393.6(DAG1):c.219C>T (p.Val73=) rs145165301 0.00004
NM_004817.4(TJP2):c.2751C>T (p.Arg917=) rs184519036 0.00004
NM_006516.4(SLC2A1):c.906G>T (p.Gly302=) rs55693364 0.00004
NM_007294.4(BRCA1):c.425C>A (p.Pro142His) rs55971303 0.00004
NM_014141.6(CNTNAP2):c.237C>T (p.Ser79=) rs145162968 0.00004
NM_017780.4(CHD7):c.1170T>C (p.Tyr390=) rs554737227 0.00004
NM_017780.4(CHD7):c.5115G>A (p.Pro1705=) rs191081055 0.00004
NM_017780.4(CHD7):c.5697C>G (p.Gly1899=) rs528130317 0.00004
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=) rs188188906 0.00004
NM_020754.4(ARHGAP31):c.3255C>T (p.Pro1085=) rs372301689 0.00004
NM_022436.3(ABCG5):c.1570G>A (p.Val524Ile) rs200839584 0.00004
NM_024757.5(EHMT1):c.529G>C (p.Ala177Pro) rs182595609 0.00004
NM_030665.4(RAI1):c.2074G>A (p.Val692Met) rs398124415 0.00004
NM_031407.7(HUWE1):c.2570C>T (p.Pro857Leu) rs782526786 0.00004
NM_033337.3(CAV3):c.201C>A (p.Val67=) rs201593267 0.00004
NM_080680.3(COL11A2):c.1451C>T (p.Ala484Val) rs143965711 0.00004
NM_144573.4(NEXN):c.249G>A (p.Glu83=) rs372532824 0.00004
NM_000051.4(ATM):c.6234C>T (p.Ser2078=) rs569483748 0.00003
NM_000169.3(GLA):c.714T>C (p.Ser238=) rs397515872 0.00003
NM_000307.5(POU3F4):c.588G>C (p.Gln196His) rs770776910 0.00003
NM_000330.4(RS1):c.234G>A (p.Pro78=) rs183092299 0.00003
NM_000540.3(RYR1):c.9723C>T (p.Pro3241=) rs199828145 0.00003
NM_000719.7(CACNA1C):c.3531C>T (p.Tyr1177=) rs754527651 0.00003
NM_000719.7(CACNA1C):c.5140G>A (p.Gly1714Ser) rs533676935 0.00003
NM_001040142.2(SCN2A):c.2673C>T (p.Ile891=) rs529842407 0.00003
NM_001267550.2(TTN):c.1398+5G>A rs542965530 0.00003
NM_001267550.2(TTN):c.41703T>C (p.Thr13901=) rs756282138 0.00003
NM_001267550.2(TTN):c.45567C>T (p.Tyr15189=) rs1455525236 0.00003
NM_001267550.2(TTN):c.94348C>T (p.Arg31450Cys) rs541040798 0.00003
NM_001278116.2(L1CAM):c.2308G>A (p.Asp770Asn) rs148516831 0.00003
NM_001330078.2(NRXN1):c.882C>T (p.Tyr294=) rs200464704 0.00003
NM_001367721.1(CASK):c.1922G>A (p.Arg641Lys) rs76106850 0.00003
NM_001379110.1(SLC9A6):c.-16C>T rs139299794 0.00003
NM_001614.5(ACTG1):c.1095G>A (p.Ser365=) rs201121917 0.00003
NM_001844.5(COL2A1):c.2143C>T (p.Leu715Phe) rs1482498887 0.00003
NM_003839.4(TNFRSF11A):c.1340C>T (p.Thr447Ile) rs776173779 0.00003
NM_004006.3(DMD):c.3419A>G (p.His1140Arg) rs201297190 0.00003
NM_004817.4(TJP2):c.3405G>A (p.Thr1135=) rs771190188 0.00003
NM_014141.6(CNTNAP2):c.1896A>C (p.Thr632=) rs749646225 0.00003
NM_014927.5(CNKSR2):c.1458A>G (p.Arg486=) rs760890681 0.00003
NM_016247.4(IMPG2):c.2531G>A (p.Arg844Gln) rs139105788 0.00003
NM_017780.4(CHD7):c.6771C>T (p.Pro2257=) rs367615733 0.00003
NM_022552.5(DNMT3A):c.2676A>G (p.Ser892=) rs763189481 0.00003
NM_030665.4(RAI1):c.5023G>C (p.Val1675Leu) rs113210810 0.00003
NM_080680.3(COL11A2):c.3352C>A (p.Gln1118Lys) rs369849667 0.00003
NM_000038.6(APC):c.5363G>A (p.Arg1788His) rs201472075 0.00002
NM_000059.4(BRCA2):c.8573A>G (p.Gln2858Arg) rs80359114 0.00002
NM_000059.4(BRCA2):c.9270C>T (p.Phe3090=) rs587780873 0.00002
NM_000238.4(KCNH2):c.2331C>T (p.Thr777=) rs41307292 0.00002
NM_000368.5(TSC1):c.2115G>A (p.Glu705=) rs142662480 0.00002
NM_000391.4(TPP1):c.1552-9C>T rs369699167 0.00002
NM_000392.5(ABCC2):c.3927C>T (p.Tyr1309=) rs4148401 0.00002
NM_000444.6(PHEX):c.1675T>C (p.Phe559Leu) rs762828809 0.00002
NM_000548.5(TSC2):c.3270C>T (p.Ser1090=) rs754951889 0.00002
NM_000548.5(TSC2):c.4077C>T (p.Ile1359=) rs150999168 0.00002
NM_001035.3(RYR2):c.3180C>T (p.Tyr1060=) rs398123540 0.00002
NM_001111125.3(IQSEC2):c.4022G>A (p.Arg1341Lys) rs957057964 0.00002
NM_001267550.2(TTN):c.42687C>T (p.Ala14229=) rs775889693 0.00002
NM_001267550.2(TTN):c.49032G>A (p.Val16344=) rs587780980 0.00002
NM_001267550.2(TTN):c.5373C>A (p.Thr1791=) rs727503693 0.00002
NM_001267550.2(TTN):c.64338T>C (p.Ala21446=) rs371514555 0.00002
NM_001267550.2(TTN):c.65319T>C (p.Thr21773=) rs746956869 0.00002
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly) rs573415766 0.00002
NM_001278116.2(L1CAM):c.1249G>A (p.Ala417Thr) rs782331927 0.00002
NM_001278116.2(L1CAM):c.1379+3G>A rs782455321 0.00002
NM_001278116.2(L1CAM):c.1962C>T (p.Asp654=) rs201372074 0.00002
NM_001278116.2(L1CAM):c.603C>T (p.Ser201=) rs782223025 0.00002
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206 0.00002
NM_001330260.2(SCN8A):c.2073C>T (p.Tyr691=) rs146982102 0.00002
NM_001353214.3(DYM):c.288-10G>A rs557407004 0.00002
NM_001830.4(CLCN4):c.1503G>A (p.Arg501=) rs398123627 0.00002
NM_002473.6(MYH9):c.3591C>T (p.Ala1197=) rs549408462 0.00002
NM_002693.3(POLG):c.3104+8C>A rs754615624 0.00002
NM_002880.4(RAF1):c.1668+4A>G rs771344560 0.00002
NM_002880.4(RAF1):c.639T>C (p.Thr213=) rs397516823 0.00002
NM_004006.3(DMD):c.8226A>G (p.Gln2742=) rs746514008 0.00002
NM_004333.6(BRAF):c.138+17C>G rs756400234 0.00002
NM_005249.5(FOXG1):c.326C>T (p.Pro109Leu) rs398124203 0.00002
NM_006261.5(PROP1):c.52G>A (p.Gly18Ser) rs775353413 0.00002
NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp) rs80356876 0.00002
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327 0.00002
NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala) rs730881018 0.00002
NM_012469.4(PRPF6):c.1368G>A (p.Ala456=) rs139828718 0.00002
NM_014014.5(SNRNP200):c.6093-7C>A rs201143866 0.00002
NM_014363.6(SACS):c.6240T>C (p.Val2080=) rs550680855 0.00002
NM_014795.4(ZEB2):c.2766A>T (p.Pro922=) rs185223937 0.00002
NM_018136.5(ASPM):c.2205G>A (p.Glu735=) rs755350285 0.00002
NM_018965.4(TREM2):c.677-6T>C rs199910080 0.00002
NM_022437.3(ABCG8):c.1667T>C (p.Phe556Ser) rs548098742 0.00002
NM_032119.4(ADGRV1):c.1189A>G (p.Ser397Gly) rs377201437 0.00002
NM_032119.4(ADGRV1):c.1210G>A (p.Val404Ile) rs780748586 0.00002
NM_032119.4(ADGRV1):c.14931A>G (p.Leu4977=) rs760841840 0.00002
NM_032119.4(ADGRV1):c.18348C>T (p.Ser6116=) rs774124713 0.00002
NM_153026.3(PRICKLE1):c.2262C>G (p.Leu754=) rs727504104 0.00002
NM_170707.4(LMNA):c.1098G>A (p.Lys366=) rs57901307 0.00002
NM_198904.4(GABRG2):c.582G>A (p.Leu194=) rs781498456 0.00002
NM_000051.4(ATM):c.8987+3G>A rs56360226 0.00001
NM_000218.3(KCNQ1):c.1685+9G>A rs545535640 0.00001
NM_000251.3(MSH2):c.-9G>C rs547444746 0.00001
NM_000260.4(MYO7A):c.1299C>T (p.Ile433=) rs782163200 0.00001
NM_000335.5(SCN5A):c.2013C>T (p.Ser671=) rs751050999 0.00001
NM_000335.5(SCN5A):c.5433G>A (p.Ser1811=) rs780761880 0.00001
NM_000350.3(ABCA4):c.4407C>T (p.Asn1469=) rs750526487 0.00001
NM_000350.3(ABCA4):c.769-3C>T rs368010652 0.00001
NM_000352.6(ABCC8):c.279C>A (p.Ile93=) rs550990673 0.00001
NM_000368.5(TSC1):c.2932C>G (p.Leu978Val) rs397514859 0.00001
NM_000430.4(PAFAH1B1):c.570C>T (p.Gly190=) rs758682063 0.00001
NM_000451.4(SHOX):c.702G>A (p.Ala234=) rs576542942 0.00001
NM_000455.5(STK11):c.579C>T (p.Ser193=) rs730881961 0.00001
NM_000548.5(TSC2):c.849-8A>G rs765336852 0.00001
NM_000702.4(ATP1A2):c.3034+6C>A rs574788908 0.00001
NM_000726.5(CACNB4):c.288C>T (p.Ala96=) rs558998873 0.00001
NM_001035.3(RYR2):c.5712G>A (p.Leu1904=) rs377763336 0.00001
NM_001040142.2(SCN2A):c.5427G>A (p.Ala1809=) rs1177406324 0.00001
NM_001110792.2(MECP2):c.1440G>A (p.Arg480=) rs267608633 0.00001
NM_001267550.2(TTN):c.102963C>T (p.Asn34321=) rs528502993 0.00001
NM_001267550.2(TTN):c.104457C>T (p.Tyr34819=) rs548677252 0.00001
NM_001267550.2(TTN):c.17928G>A (p.Leu5976=) rs373963067 0.00001
NM_001267550.2(TTN):c.18669G>A (p.Thr6223=) rs772600691 0.00001
NM_001267550.2(TTN):c.57273C>T (p.Asp19091=) rs587780489 0.00001
NM_001267550.2(TTN):c.60342C>T (p.Thr20114=) rs529529087 0.00001
NM_001267550.2(TTN):c.6423G>A (p.Val2141=) rs768989325 0.00001
NM_001267550.2(TTN):c.72167G>A (p.Arg24056His) rs398124455 0.00001
NM_001267550.2(TTN):c.74144C>T (p.Pro24715Leu) rs55713856 0.00001
NM_001267550.2(TTN):c.97418G>A (p.Arg32473His) rs397517770 0.00001
NM_001278116.2(L1CAM):c.591T>C (p.Asn197=) rs375862497 0.00001
NM_001278116.2(L1CAM):c.860G>A (p.Arg287His) rs200402620 0.00001
NM_001323289.2(CDKL5):c.2388C>T (p.Ser796=) rs727503847 0.00001
NM_001330260.2(SCN8A):c.270G>T (p.Thr90=) rs371712630 0.00001
NM_001367721.1(CASK):c.1503+3A>G rs1468715588 0.00001
NM_001367721.1(CASK):c.2317C>T (p.His773Tyr) rs398123811 0.00001
NM_001844.5(COL2A1):c.2943C>T (p.Gly981=) rs566132150 0.00001
NM_001851.6(COL9A1):c.2562T>C (p.Pro854=) rs1135057 0.00001
NM_001854.4(COL11A1):c.1359G>A (p.Met453Ile) rs755173952 0.00001
NM_001854.4(COL11A1):c.893C>T (p.Thr298Met) rs398123652 0.00001
NM_001927.4(DES):c.1180G>A (p.Val394Met) rs776786349 0.00001
NM_004086.3(COCH):c.239+5G>A rs563163157 0.00001
NM_005477.3(HCN4):c.1459G>A (p.Val487Met) rs202037304 0.00001
NM_005477.3(HCN4):c.2055C>T (p.Ser685=) rs886042819 0.00001
NM_006208.3(ENPP1):c.1791T>C (p.Asn597=) rs548504035 0.00001
NM_006766.5(KAT6A):c.3026C>T (p.Thr1009Met) rs750975358 0.00001
NM_007294.4(BRCA1):c.1866G>A (p.Ala622=) rs1800064 0.00001
NM_007294.4(BRCA1):c.4097-10G>A rs80358057 0.00001
NM_014014.5(SNRNP200):c.5520C>G (p.Thr1840=) rs368225080 0.00001
NM_014141.6(CNTNAP2):c.273T>C (p.Asn91=) rs773595457 0.00001
NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=) rs200730202 0.00001
NM_030665.4(RAI1):c.1850C>A (p.Ala617Asp) rs549244691 0.00001
NM_030665.4(RAI1):c.3913G>A (p.Ala1305Thr) rs794727521 0.00001
NM_033056.4(PCDH15):c.4719G>A (p.Leu1573=) rs529962978 0.00001
NM_080680.3(COL11A2):c.3182G>A (p.Arg1061Gln) rs528982644 0.00001
NM_133379.5(TTN):c.14055A>G (p.Arg4685=) rs1466986172 0.00001
NM_170707.4(LMNA):c.870G>A (p.Glu290=) rs747275587 0.00001
NM_201384.3(PLEC):c.10359G>A (p.Lys3453=) rs782140099 0.00001
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile) rs276174831
NM_000059.4(BRCA2):c.6513G>T (p.Val2171=) rs206076
NM_000091.5(COL4A3):c.3825C>T (p.His1275=) rs143380907
NM_000136.3(FANCC):c.345+4AG[2] rs755657969
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=) rs3136351
NM_000202.8(IDS):c.419-16dup rs781852261
NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=) rs112113213
NM_000231.3(SGCG):c.579-21_579-20del rs769893030
NM_000238.4(KCNH2):c.1320G>T (p.Pro440=) rs144926928
NM_000245.4(MET):c.2584-7del rs587780736
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp) rs111033287
NM_000264.5(PTCH1):c.3624C>T (p.Ala1208=) rs149691476
NM_000337.6(SGCD):c.383-33CTCTCTAT[4] rs727504998
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=) rs138475920
NM_000372.5(TYR):c.1037-10dup rs747032303
NM_000381.4(MID1):c.1767T>C (p.Asn589=) rs750022332
NM_000391.4(TPP1):c.687+20C>T rs569432039
NM_000392.5(ABCC2):c.3498C>T (p.Thr1166=) rs564908429
NM_000426.4(LAMA2):c.4312-19_4312-17del rs398123374
NM_000436.4(OXCT1):c.78+10dup rs368390833
NM_000451.4(SHOX):c.144G>A (p.Glu48=) rs750638027
NM_000458.4(HNF1B):c.1389C>T (p.Ala463=) rs761684626
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
NM_000458.4(HNF1B):c.780G>C (p.Glu260Asp)
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser) rs1800086
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu) rs184649564
NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del) rs781838239
NM_000516.7(GNAS):c.531-13_531-10del rs576071932
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.13680T>C (p.Phe4560=) rs377664510
NM_000548.5(TSC2):c.5001C>T (p.Asn1667=) rs551938797
NM_000719.7(CACNA1C):c.1218-6C>T rs727503833
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del) rs575583988
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=) rs199538058
NM_000744.7(CHRNA4):c.681C>A (p.Ala227=) rs45588436
NM_000843.4(GRM6):c.2610C>T (p.Gly870=) rs61731186
NM_001017995.3(SH3PXD2B):c.1063-7G>T rs186443822
NM_001025295.3(IFITM5):c.120G>A (p.Ser40=) rs79625057
NM_001029883.3(PCARE):c.537T>C (p.Pro179=) rs201965800
NM_001039141.3(TRIOBP):c.6472+14G>T rs45503898
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001042472.3(ABHD12):c.788-10_788-7del rs565270893
NM_001083614.2(EARS2):c.263_264delinsAA (p.Ala88Glu) rs1555504721
NM_001099922.3(ALG13):c.2754ACC[16] (p.Pro945dup) rs750710267
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4]) rs764399373
NM_001127222.2(CACNA1A):c.3531C>A (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.6630CCA[10] (p.His2219dup) rs759331923
NM_001127644.2(GABRA1):c.1225C>T (p.Pro409Ser) rs139793542
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=) rs72758823
NM_001159699.2(FHL1):c.737-9del rs374867802
NM_001164508.2(NEB):c.153_167dup (p.52LAQPA[3]) rs757726895
NM_001164508.2(NEB):c.5971-6dup rs551520922
NM_001165963.4(SCN1A):c.2044-5dup rs549232924
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) rs569734777
NM_001195263.2(PDZD7):c.1348_1350del (p.Glu450del) rs555444131
NM_001199397.3(NEK1):c.1081-8dup rs398124255
NM_001256789.3(CACNA1F):c.2387-19del rs375791434
NM_001267550.2(TTN):c.12307T>C (p.Leu4103=) rs587780988
NM_001267550.2(TTN):c.25087G>T (p.Ala8363Ser) rs200972189
NM_001267550.2(TTN):c.26762-10_26762-9insTTGTTTTGTA rs1553893826
NM_001267550.2(TTN):c.26762-39TTTGT[11] rs71393436
NM_001267550.2(TTN):c.31762+5_31762+7del rs397517538
NM_001267550.2(TTN):c.34708+9G>T rs397517551
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn) rs397517583
NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val) rs886042743
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu) rs372799151
NM_001267550.2(TTN):c.7020C>T (p.Ile2340=) rs587780986
NM_001277115.2(DNAH11):c.11691-20dup rs5882827
NM_001330260.2(SCN8A):c.1846GGCTACAGC[1] (p.616GYS[1]) rs758276968
NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala) rs532620482
NM_001367624.2(ZNF469):c.5340C>G (p.Pro1780=) rs184374078
NM_001367721.1(CASK):c.891A>G (p.Lys297=) rs544979992
NM_001367916.1(MAGT1):c.16C>T (p.Arg6Trp) rs140854076
NM_001368397.1(FRMPD4):c.3937C>A (p.Arg1313=) rs41303149
NM_001370259.2(MEN1):c.655-6C>T rs77461664
NM_001374385.1(ATP8B1):c.182-5dup rs34583775
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_001386140.1(MTTP):c.1715A>G (p.Asn572Ser) rs772602972
NM_001457.4(FLNB):c.3163G>T (p.Val1055Leu) rs9813235
NM_001497.4(B4GALT1):c.412+44dup rs111399879
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) rs145735762
NM_001844.5(COL2A1):c.644C>A (p.Ala215Glu) rs766480693
NM_001854.4(COL11A1):c.1201T>C (p.Phe401Leu) rs141817156
NM_001854.4(COL11A1):c.1792-39ATG[11] rs71752747
NM_001927.4(DES):c.1353C>T (p.Ile451=) rs121913002
NM_002335.4(LRP5):c.-19del rs763941232
NM_002381.5(MATN3):c.90C>G (p.Pro30=) rs996766896
NM_002693.3(POLG):c.3482+6C>T rs55779802
NM_002693.3(POLG):c.970C>T (p.Pro324Ser) rs2307437
NM_002693.3(POLG):c.975C>A (p.Pro325=) rs551973680
NM_002834.5(PTPN11):c.1052G>A (p.Arg351Gln) rs397507534
NM_002880.4(RAF1):c.124_125delinsAT (p.Ala42Ile) rs876657965
NM_003289.4(TPM2):c.773-3del rs35401252
NM_003413.4(ZIC3):c.135CGC[10] (p.Ala55dup) rs748325646
NM_003482.4(KMT2D):c.11738AGC[8] (p.Gln3919dup) rs576788910
NM_003482.4(KMT2D):c.1940C>A (p.Pro647Gln) rs200088180
NM_003482.4(KMT2D):c.2551C>T (p.Leu851=) rs186151848
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr) rs143711798
NM_003482.4(KMT2D):c.7109G>C (p.Arg2370Pro) rs373234419
NM_003742.4(ABCB11):c.1404T>A (p.Ile468=) rs34200464
NM_004006.3(DMD):c.5933G>A (p.Arg1978His) rs148135406
NM_004187.5(KDM5C):c.1794C>T (p.Pro598=) rs35353912
NM_004333.6(BRAF):c.83GCGCCG[4] (p.28GA[4]) rs397507458
NM_004380.3(CREBBP):c.4729-14G>A rs130008
NM_004385.5(VCAN):c.6902T>G (p.Phe2301Cys) rs160278
NM_004385.5(VCAN):c.927T>C (p.Thr309=) rs536465380
NM_004560.4(ROR2):c.298G>A (p.Ala100Thr) rs374692105
NM_004817.4(TJP2):c.1213_1215del (p.Ile405del) rs727504461
NM_004817.4(TJP2):c.3408-6del rs778863371
NM_004839.4(HOMER2):c.763-8del rs567936162
NM_005104.4(BRD2):c.1497GGA[1] (p.Glu500del) rs3918142
NM_005120.3(MED12):c.4416-77CTCTT[13] rs56658066
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val) rs189809247
NM_005249.5(FOXG1):c.1086G>A (p.Leu362=) rs570981209
NM_005249.5(FOXG1):c.194CGC[6] (p.Pro69dup) rs761703699
NM_005249.5(FOXG1):c.209AGC[5] (p.Gln73dup) rs398124201
NM_005249.5(FOXG1):c.219GCC[7] (p.Pro80dup) rs786200975
NM_005529.7(HSPG2):c.3707C>A (p.Ala1236Glu) rs113652076
NM_005529.7(HSPG2):c.6141T>C (p.Asp2047=) rs150129885
NM_005633.3(SOS1):c.2511-9dup rs727503436
NM_006015.6(ARID1A):c.729GGC[4] (p.Ala247dup) rs749970078
NM_006017.3(PROM1):c.879C>T (p.Ser293=) rs148242593
NM_006031.6(PCNT):c.2108A>T (p.Tyr703Phe) rs572444748
NM_006031.6(PCNT):c.8889G>A (p.Ser2963=) rs151325202
NM_006059.4(LAMC3):c.3250G>C (p.Glu1084Gln) rs146221263
NM_006059.4(LAMC3):c.4146G>C (p.Arg1382Ser) rs147092908
NM_006343.3(MERTK):c.773C>A (p.Ala258Glu) rs35252762
NM_006516.4(SLC2A1):c.679+4C>T rs139492241
NM_006790.3(MYOT):c.1275A>G (p.Ala425=) rs140678912
NM_006922.4(SCN3A):c.3844-19dup rs71028466
NM_007055.4(POLR3A):c.1771-5del rs544204280
NM_007294.4(BRCA1):c.548-9del rs273902774
NM_007294.4(BRCA1):c.81-13C>G rs56328013
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=) rs139785866
NM_013335.4(GMPPA):c.486C>G (p.His162Gln) rs36029384
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_014014.5(SNRNP200):c.3897C>G (p.Thr1299=) rs144934076
NM_014141.6(CNTNAP2):c.3678C>T (p.Ser1226=) rs201219937
NM_014251.3(SLC25A13):c.848+9G>T rs201395793
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_014639.4(SKIC3):c.3015-14dup rs745805590
NM_014639.4(SKIC3):c.4497-14dup rs755628334
NM_014780.5(CUL7):c.2229C>G (p.Ala743=) rs188565648
NM_014795.4(ZEB2):c.1542G>T (p.Pro514=) rs141674976
NM_014795.4(ZEB2):c.9G>A (p.Gln3=) rs149882004
NM_014845.6(FIG4):c.2097-10C>G rs142482745
NM_015295.3(SMCHD1):c.3444T>A (p.Pro1148=) rs76290319
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu) rs201025783
NM_015629.4(PRPF31):c.527+9G>T rs376994481
NM_015922.3(NSDHL):c.842G>A (p.Arg281His) rs782143078
NM_016247.4(IMPG2):c.534-13dup rs567795716
NM_017547.4(FOXRED1):c.9G>A (p.Arg3=) rs28372779
NM_018136.5(ASPM):c.9830-8dup rs748383126
NM_019066.5(MAGEL2):c.1344ACCCGTGATCCGCCAGGCCCC[1] (p.442PVIRQAP[2]) rs794726941
NM_019066.5(MAGEL2):c.1404CCCACCTGTGATCCGCCAGGC[1] (p.464VIRQAPP[3]) rs1386125417
NM_019066.5(MAGEL2):c.479CCCATCCTCCTCCTCCGGGGACCCCGATGG[1] (p.160AHPPPPGTPM[1]) rs751352401
NM_019066.5(MAGEL2):c.939CCCACCTGCACAGCCGATGGC[1] (p.314PPAQPMA[1]) rs528108868
NM_020297.4(ABCC9):c.1165-6dup rs35857705
NM_020433.5(JPH2):c.624C>G (p.Ala208=) rs398124358
NM_020451.3(SELENON):c.427GAG[5] (p.Glu146dup) rs141295085
NM_021728.4(OTX2):c.444G>C (p.Pro148=) rs147896150
NM_021939.4(FKBP10):c.246-5C>G rs140027863
NM_022124.6(CDH23):c.5130C>A (p.Ile1710=) rs111033487
NM_022124.6(CDH23):c.6169A>G (p.Ile2057Val) rs573057228
NM_024408.4(NOTCH2):c.15C>G (p.Arg5=) rs4021006
NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=) rs144873879
NM_024596.5(MCPH1):c.90A>G (p.Thr30=) rs139678787
NM_024757.5(EHMT1):c.3555C>T (p.Tyr1185=) rs398124407
NM_025219.3(DNAJC5):c.153G>T (p.Pro51=) rs151265913
NM_025243.4(SLC19A3):c.*8G>A rs188532608
NM_025265.4(TSEN2):c.560G>C (p.Arg187Pro) rs146117200
NM_030665.4(RAI1):c.2659A>G (p.Met887Val) rs794727523
NM_030665.4(RAI1):c.834GCA[17] (p.Gln288_Gln291dup) rs371983878
NM_030665.4(RAI1):c.834GCA[6] (p.Gln285_Gln291del) rs371983878
NM_032119.4(ADGRV1):c.18229G>A (p.Val6077Met) rs762746997
NM_032119.4(ADGRV1):c.5785G>T (p.Ala1929Ser) rs41311335
NM_032119.4(ADGRV1):c.8730+9_8730+10del rs780180737
NM_033337.3(CAV3):c.399C>T (p.Phe133=) rs769859957
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del) rs863224140
NM_130837.3(OPA1):c.1755-6dup rs748933560
NM_130839.5(UBE3A):c.*3CAAAA[1] (p.Ter873=) rs587782926
NM_133379.5(TTN):c.15313C>A (p.Arg5105=) rs376396183
NM_138735.4(NRXN1):c.49GGC[11] (p.Gly17[11]) rs750165040
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup) rs387906492
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del) rs764505909
NM_147127.5(EVC2):c.1711-11_1711-10dup rs35103377
NM_147196.3(TMIE):c.367AAG[6] (p.Lys129_Lys131del) rs10578999
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_172364.5(CACNA2D4):c.1239G>A (p.Pro413=) rs201783863
NM_173660.5(DOK7):c.161G>A (p.Arg54His) rs201818140
NM_174936.4(PCSK9):c.45GCT[10] (p.Leu21_Leu23dup) rs35574083
NM_181332.3(NLGN4X):c.115A>G (p.Ile39Val) rs201534650
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=) rs146789107
NM_182961.4(SYNE1):c.779-4dup rs567435072
NM_194248.3(OTOF):c.1803+7dup rs755835793
NM_198506.5(LRIT3):c.1752_1754del (p.Leu585del) rs145776307
NM_198525.3(KIF7):c.2719-28CCCT[8] rs3840030
NM_201384.3(PLEC):c.2304+9dup rs35671527
NM_201384.3(PLEC):c.7830G>A (p.Ala2610=) rs376112916
NM_201548.5(CERKL):c.132G>C (p.Glu44Asp) rs727503857
NM_207352.4(CYP4V2):c.1479C>T (p.Asn493=) rs374270799
NM_207361.6(FREM2):c.7520-10_7520-9insCT rs1399473815
NM_213599.3(ANO5):c.295-8dup rs778435515
Single allele

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