ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from Eurofins Ntd Llc (ga) and "likely 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: 9283
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809 0.17677
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_000321.3(RB1):c.2212-16T>A rs201258424 0.01386
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_001370658.1(BTD):c.73G>A (p.Gly25Arg) rs34885143 0.01036
NM_001305581.2(LRMDA):c.132-253012del rs146123023 0.00977
NM_000540.3(RYR1):c.12879G>C (p.Ala4293=) rs193922854 0.00873
NM_004700.4(KCNQ4):c.-14G>T rs886042324 0.00867
NM_005609.4(PYGM):c.1092+6dup rs368602234 0.00657
NM_000035.4(ALDOB):c.-214G>A rs185972191 0.00640
NM_001029883.3(PCARE):c.3059A>G (p.Gln1020Arg) rs200367963 0.00631
NM_001029883.3(PCARE):c.3058C>A (p.Gln1020Lys) rs201355503 0.00629
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100 0.00625
NM_000275.3(OCA2):c.574-19A>G rs145242923 0.00618
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636 0.00598
NM_138694.4(PKHD1):c.2279+13T>G rs188914598 0.00572
NM_000243.3(MEFV):c.1587+33C>G rs146820856 0.00556
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098 0.00519
NM_001367624.2(ZNF469):c.2717C>T (p.Pro906Leu) rs77951481 0.00511
NM_001367624.2(ZNF469):c.11277C>T (p.Ser3759=) rs372634401 0.00490
NM_001171.6(ABCC6):c.1171A>G (p.Arg391Gly) rs72653762 0.00476
NM_004320.6(ATP2A1):c.663C>G (p.Gly221=) rs113803159 0.00468
NM_000407.5(GP1BB):c.399C>T (p.Ala133=) rs142352780 0.00467
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met) rs587784372 0.00440
NM_002693.3(POLG):c.-80C>T rs3087378 0.00435
NM_030973.4(MED25):c.1004C>T (p.Ala335Val) rs145770066 0.00433
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927 0.00426
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val) rs116005007 0.00425
NM_000492.4(CFTR):c.-226G>T rs73717525 0.00422
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167 0.00417
NM_000163.5(GHR):c.535C>T (p.Arg179Cys) rs121909362 0.00405
NM_000747.3(CHRNB1):c.342G>A (p.Val114=) rs75019736 0.00404
NM_006432.5(NPC2):c.441+1G>A rs140130028 0.00393
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_006208.3(ENPP1):c.313+10del rs778260177 0.00389
NM_001252024.2(TRPM1):c.536C>T (p.Ser179Phe) rs138886378 0.00387
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843 0.00376
NM_000271.5(NPC1):c.1947+14_1947+15insC rs201170241 0.00371
NM_002892.4(ARID4A):c.3211+1G>A rs62621193 0.00363
NM_006059.4(LAMC3):c.4092C>T (p.Ser1364=) rs141724499 0.00360
NM_004560.4(ROR2):c.2285C>T (p.Ser762Leu) rs34491822 0.00357
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826 0.00353
NM_003977.4(AIP):c.100-18C>T rs202156895 0.00352
NM_005502.4(ABCA1):c.1196T>C (p.Val399Ala) rs9282543 0.00352
NM_006059.4(LAMC3):c.2891-8C>T rs199535979 0.00339
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val) rs147077184 0.00338
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly) rs121909046 0.00335
NM_014363.6(SACS):c.8339T>G (p.Phe2780Cys) rs111540787 0.00328
NM_001165967.2(HES7):c.591C>T (p.Pro197=) rs558811781 0.00326
NM_020822.3(KCNT1):c.99A>G (p.Gln33=) rs146152956 0.00323
NM_015311.3(OBSL1):c.4732C>T (p.Gln1578Ter) rs116131367 0.00318
NM_001367624.2(ZNF469):c.2841G>A (p.Arg947=) rs150435442 0.00315
NM_000540.3(RYR1):c.9685+16C>T rs45496799 0.00312
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598 0.00312
NM_014244.5(ADAMTS2):c.2751-4G>A rs112155474 0.00312
NM_032634.4(PIGO):c.2268G>A (p.Ala756=) rs149171782 0.00310
NM_001201543.2(FAM161A):c.1153C>G (p.Gln385Glu) rs139266382 0.00309
NM_001384474.1(LOXHD1):c.5802C>A (p.Asn1934Lys) rs61733519 0.00307
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
NM_000540.3(RYR1):c.12956G>A (p.Arg4319Gln) rs539194350 0.00306
NM_019066.5(MAGEL2):c.1286C>T (p.Pro429Leu) rs2233061 0.00306
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285 0.00306
NM_001110219.3(GJB6):c.489G>A (p.Leu163=) rs35002004 0.00300
NM_020361.5(CPA6):c.809C>T (p.Ala270Val) rs114402678 0.00300
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00299
NM_001371596.2(MFSD8):c.1006G>C (p.Glu336Gln) rs150418024 0.00299
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688 0.00297
NM_015404.4(WHRN):c.1365T>C (p.Ser455=) rs111033459 0.00294
NM_001194998.2(CEP152):c.344G>A (p.Arg115Gln) rs188101277 0.00292
NM_001458.5(FLNC):c.8003T>C (p.Met2668Thr) rs200502811 0.00291
NM_000371.4(TTR):c.336+19G>A rs75517067 0.00289
NM_021098.3(CACNA1H):c.4039-4G>A rs57315342 0.00287
NM_198525.3(KIF7):c.1220C>A (p.Ala407Asp) rs587780375 0.00286
NM_000452.3(SLC10A2):c.910T>C (p.Phe304Leu) rs61966074 0.00285
NM_005529.7(HSPG2):c.11475C>T (p.Ile3825=) rs111866498 0.00284
NM_001909.5(CTSD):c.912G>A (p.Pro304=) rs140238987 0.00281
NM_004527.4(MEOX1):c.126G>A (p.Pro42=) rs141693578 0.00280
NM_006059.4(LAMC3):c.2517G>A (p.Thr839=) rs140540789 0.00280
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser) rs147551003 0.00280
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390 0.00279
NM_014252.4(SLC25A15):c.182G>A (p.Arg61His) rs34615430 0.00276
NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys) rs189476639 0.00275
NM_022436.3(ABCG5):c.80G>C (p.Gly27Ala) rs56204478 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_181078.3(IL21R):c.1033G>A (p.Gly345Ser) rs56148525 0.00271
NM_000278.5(PAX2):c.360C>T (p.Ala120=) rs41291450 0.00270
NM_002206.3(ITGA7):c.2569G>A (p.Gly857Ser) rs149081471 0.00270
NM_015192.4(PLCB1):c.3550C>T (p.Leu1184Phe) rs28390202 0.00270
NM_000218.3(KCNQ1):c.-5T>C rs532941548 0.00263
NM_032273.4(TMEM126A):c.314G>A (p.Arg105Gln) rs146573578 0.00262
NM_025132.4(WDR19):c.2792A>C (p.Tyr931Ser) rs187546086 0.00261
NM_000431.4(MVK):c.238G>A (p.Val80Ile) rs76914224 0.00259
NM_003737.4(DCHS1):c.4072G>A (p.Glu1358Lys) rs184586428 0.00259
NM_004836.7(EIF2AK3):c.1697A>T (p.Asp566Val) rs55791823 0.00259
NM_194248.3(OTOF):c.2215-80T>C rs143141993 0.00259
NM_001201543.2(FAM161A):c.354G>T (p.Gln118His) rs140622968 0.00258
NM_006059.4(LAMC3):c.4160C>T (p.Ala1387Val) rs141497885 0.00258
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_000071.3(CBS):c.1105C>T (p.Arg369Cys) rs117687681 0.00255
NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met) rs375045076 0.00255
NM_144988.4(ALG14):c.113G>T (p.Ser38Ile) rs139521179 0.00255
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg) rs201342438 0.00253
NM_013435.3(RAX):c.197G>C (p.Arg66Thr) rs536765190 0.00253
NM_022132.5(MCCC2):c.599T>A (p.Ile200Asn) rs140806722 0.00253
NM_025074.7(FRAS1):c.4579C>T (p.Arg1527Trp) rs1872267 0.00253
NM_000260.4(MYO7A):c.1554+8G>A rs111033227 0.00249
NM_006031.6(PCNT):c.9707G>A (p.Arg3236Gln) rs113591604 0.00249
NM_000444.6(PHEX):c.1344C>T (p.Asp448=) rs144911719 0.00247
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00245
NM_005379.4(MYO1A):c.2724+7G>A rs55985817 0.00244
NM_001005242.3(PKP2):c.419C>T (p.Ser140Phe) rs150821281 0.00243
NM_001089.3(ABCA3):c.2309C>T (p.Pro770Leu) rs143929832 0.00242
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00241
NM_025074.7(FRAS1):c.7033G>A (p.Glu2345Lys) rs56291926 0.00241
NM_000152.5(GAA):c.2481+16G>A rs41292408 0.00240
NM_000261.2(MYOC):c.366C>T (p.Gly122=) rs145354114 0.00240
NM_002435.3(MPI):c.303C>T (p.Leu101=) rs139228075 0.00240
NM_002615.7(SERPINF1):c.202G>C (p.Val68Leu) rs143827025 0.00240
NM_014908.4(DOLK):c.631C>T (p.Arg211Cys) rs145310298 0.00238
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) rs143777403 0.00238
NM_001384732.1(CPLANE1):c.8958+4A>C rs199810663 0.00237
NM_014874.4(MFN2):c.1403G>A (p.Arg468His) rs138382758 0.00237
NM_000426.4(LAMA2):c.4959+6G>T rs148060790 0.00236
NM_001164508.2(NEB):c.4272G>C (p.Thr1424=) rs35654397 0.00236
NM_024809.5(TCTN2):c.720C>G (p.Pro240=) rs149430216 0.00236
NM_000255.4(MMUT):c.205A>G (p.Ile69Val) rs115923556 0.00234
NM_006204.4(PDE6C):c.2037-7T>C rs181296577 0.00234
NM_206933.4(USH2A):c.4560C>T (p.Ile1520=) rs148000219 0.00234
NM_000350.3(ABCA4):c.4771G>A (p.Gly1591Arg) rs113106943 0.00232
NM_005609.4(PYGM):c.1537A>G (p.Ile513Val) rs139570786 0.00232
NM_018139.3(DNAAF2):c.1953A>G (p.Pro651=) rs34352773 0.00232
NM_002180.3(IGHMBP2):c.1064C>T (p.Ala355Val) rs142062146 0.00231
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459 0.00231
NM_032119.4(ADGRV1):c.9213C>T (p.Asp3071=) rs56329646 0.00231
NM_001715.3(BLK):c.674C>T (p.Pro225Leu) rs144592409 0.00230
NM_005876.5(SPEG):c.6076C>G (p.Arg2026Gly) rs531879999 0.00229
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577 0.00228
NM_001199397.3(NEK1):c.1021G>A (p.Ala341Thr) rs189186475 0.00227
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile) rs141010716 0.00227
NM_012092.4(ICOS):c.451G>C (p.Val151Leu) rs76778263 0.00226
NM_015295.3(SMCHD1):c.424+10C>T rs201631086 0.00225
NM_000392.5(ABCC2):c.1032-3C>T rs139800035 0.00224
NM_024809.5(TCTN2):c.-2G>A rs141768405 0.00224
NM_006420.3(ARFGEF2):c.807C>T (p.Asp269=) rs149172723 0.00223
NM_024747.6(HPS6):c.337C>T (p.Arg113Trp) rs371307947 0.00222
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00221
NM_000079.4(CHRNA1):c.655C>T (p.Leu219=) rs150638770 0.00220
NM_001048166.1(STIL):c.3581C>T (p.Pro1194Leu) rs144746030 0.00220
NM_001256317.3(TMPRSS3):c.1125C>T (p.Tyr375=) rs111033292 0.00220
NM_002334.4(LRP4):c.1048+7G>T rs148557097 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_000019.4(ACAT1):c.60G>C (p.Arg20=) rs77311724 0.00219
NM_001377.3(DYNC2H1):c.9254C>T (p.Ala3085Val) rs202071528 0.00219
NM_052859.4(RFT1):c.382C>T (p.Leu128Phe) rs140127085 0.00219
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=) rs116587608 0.00218
NM_000098.3(CPT2):c.1806T>C (p.Phe602=) rs147953465 0.00218
NM_001378454.1(ALMS1):c.8445A>G (p.Ser2815=) rs137932254 0.00218
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_139125.4(MASP1):c.1521G>A (p.Thr507=) rs139497497 0.00216
NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=) rs61757111 0.00215
NM_004447.6(EPS8):c.1876C>A (p.Pro626Thr) rs142733590 0.00215
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=) rs370286749 0.00214
NM_001367624.2(ZNF469):c.7267C>A (p.Pro2423Thr) rs199727372 0.00214
NM_144631.6(ZNF513):c.781G>A (p.Val261Met) rs61742428 0.00214
NM_001048166.1(STIL):c.1024-4T>C rs188900275 0.00213
NM_002335.4(LRP5):c.2124G>A (p.Ser708=) rs140977837 0.00213
NM_004562.3(PRKN):c.1310C>T (p.Pro437Leu) rs149953814 0.00213
NM_018699.4(PRDM5):c.1283-5C>T rs185134294 0.00213
NM_018943.3(TUBA8):c.1334A>T (p.Glu445Val) rs138073466 0.00213
NM_173630.4(RTTN):c.4193C>T (p.Thr1398Met) rs62089120 0.00213
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) rs62646863 0.00212
NM_014363.6(SACS):c.1373C>T (p.Thr458Ile) rs61729954 0.00212
NM_004625.4(WNT7A):c.861G>A (p.Val287=) rs149962459 0.00210
NM_031220.4(PITPNM3):c.1878G>C (p.Gln626His) rs76024428 0.00209
NM_004563.4(PCK2):c.68C>G (p.Ser23Ter) rs61752842 0.00208
NM_001849.4(COL6A2):c.1333-10C>G rs199513044 0.00207
NM_147127.5(EVC2):c.18C>T (p.Ser6=) rs556910528 0.00207
NM_000540.3(RYR1):c.2121C>A (p.Gly707=) rs146104858 0.00206
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_000293.3(PHKB):c.518A>G (p.Asn173Ser) rs139738333 0.00205
NM_001035.3(RYR2):c.2760G>A (p.Glu920=) rs186181155 0.00205
NM_001379270.1(CNGA1):c.1031A>G (p.Lys344Arg) rs140419673 0.00205
NM_001876.4(CPT1A):c.2198A>G (p.Asn733Ser) rs151271754 0.00205
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
NM_000053.4(ATP7B):c.628A>G (p.Ile210Val) rs61733680 0.00204
NM_001378609.3(OTOGL):c.3255T>C (p.Thr1085=) rs138823379 0.00204
NM_004239.4(TRIP11):c.5629C>A (p.Pro1877Thr) rs148261539 0.00204
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg) rs137973321 0.00204
NM_133642.5(LARGE1):c.210C>T (p.Arg70=) rs145048151 0.00204
NM_207361.6(FREM2):c.9113T>C (p.Val3038Ala) rs114688149 0.00204
NM_003640.5(ELP1):c.1886G>A (p.Arg629His) rs148378319 0.00203
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg) rs138410949 0.00203
NM_001378454.1(ALMS1):c.1838G>A (p.Gly613Asp) rs148040591 0.00201
NM_012232.6(CAVIN1):c.356T>A (p.Val119Asp) rs146547678 0.00201
NM_152564.5(VPS13B):c.10744A>G (p.Ile3582Val) rs145547375 0.00201
NM_153717.3(EVC):c.1826G>A (p.Arg609Gln) rs41269557 0.00201
NC_000007.14:g.117479634A>G rs185028612 0.00200
NM_001080414.4(CCDC88C):c.5242G>A (p.Gly1748Arg) rs200543687 0.00200
NM_014336.5(AIPL1):c.1006G>A (p.Ala336Thr) rs143092701 0.00200
NM_014639.4(SKIC3):c.3207G>C (p.Glu1069Asp) rs143346257 0.00200
NM_000153.4(GALC):c.525C>T (p.Val175=) rs181066089 0.00199
NM_006329.4(FBLN5):c.376G>A (p.Val126Met) rs61734479 0.00199
NM_194318.4(B3GLCT):c.271-8T>C rs183322816 0.00199
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met) rs78592085 0.00198
NM_001292063.2(OTOG):c.6893G>A (p.Arg2298His) rs142799217 0.00198
NM_004407.4(DMP1):c.815G>A (p.Arg272His) rs145237146 0.00198
NM_138694.4(PKHD1):c.652G>A (p.Glu218Lys) rs149522482 0.00198
NM_000260.4(MYO7A):c.3750+9G>A rs111033252 0.00197
NM_003742.4(ABCB11):c.127G>A (p.Val43Ile) rs183406496 0.00197
NM_014363.6(SACS):c.4076T>C (p.Met1359Thr) rs146451611 0.00197
NM_001378609.3(OTOGL):c.3069A>G (p.Gln1023=) rs144125797 0.00196
NM_001918.5(DBT):c.1418A>G (p.Asn473Ser) rs75525811 0.00196
NM_206937.2(LIG4):c.686A>G (p.His229Arg) rs142957638 0.00196
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_001852.4(COL9A2):c.1982C>T (p.Pro661Leu) rs150687987 0.00195
NM_000540.3(RYR1):c.9242T>C (p.Met3081Thr) rs147012990 0.00194
NM_001004334.4(GPR179):c.959G>A (p.Arg320Gln) rs189931659 0.00194
NM_001010892.3(RSPH4A):c.2101G>C (p.Glu701Gln) rs140660854 0.00194
NM_002473.6(MYH9):c.4396C>T (p.Arg1466Trp) rs139134727 0.00194
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 0.00194
NM_153717.3(EVC):c.93C>G (p.Ala31=) rs866226288 0.00194
NM_000601.6(HGF):c.1008G>A (p.Glu336=) rs148714837 0.00193
NM_002496.4(NDUFS8):c.4C>T (p.Arg2Cys) rs150278938 0.00193
NM_022124.6(CDH23):c.3801C>T (p.Thr1267=) rs56107171 0.00193
NM_031427.4(DNAL1):c.415C>G (p.Leu139Val) rs141873943 0.00193
NM_182914.3(SYNE2):c.19964A>T (p.Gln6655Leu) rs149978500 0.00193
NM_000540.3(RYR1):c.271-7C>G rs192495718 0.00192
NM_001039876.3(SYNE4):c.1102G>A (p.Val368Met) rs141202530 0.00192
NM_018136.5(ASPM):c.8255T>G (p.Met2752Arg) rs148328539 0.00192
NM_004994.3(MMP9):c.886G>A (p.Gly296Ser) rs144098289 0.00191
NM_153717.3(EVC):c.8G>C (p.Arg3Pro) rs756852655 0.00191
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=) rs141235641 0.00191
NM_001102608.3(COL6A6):c.4300G>T (p.Gly1434Ter) rs140872639 0.00190
NM_001605.3(AARS1):c.2521-3C>T rs200586605 0.00190
NM_003647.3(DGKE):c.1679A>G (p.Gln560Arg) rs61751972 0.00190
NM_000350.3(ABCA4):c.4297G>A (p.Val1433Ile) rs56357060 0.00189
NM_001195263.2(PDZD7):c.2719-9C>A rs184247824 0.00189
NM_001377.3(DYNC2H1):c.5334+6G>A rs372964069 0.00189
NM_001378609.3(OTOGL):c.3356T>C (p.Ile1119Thr) rs150426222 0.00189
NM_000027.4(AGA):c.436T>G (p.Leu146Val) rs146381591 0.00188
NM_000124.4(ERCC6):c.1274A>C (p.Asp425Ala) rs4253046 0.00188
NM_004239.4(TRIP11):c.2102A>G (p.Asn701Ser) rs139539448 0.00188
NM_001256715.2(DNAAF3):c.832G>A (p.Ala278Thr) rs200775946 0.00187
NM_002180.3(IGHMBP2):c.1193C>T (p.Ala398Val) rs35193202 0.00187
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln) rs149304901 0.00187
NM_000096.4(CP):c.2571C>T (p.Tyr857=) rs151304828 0.00186
NM_005609.4(PYGM):c.660G>A (p.Gln220=) rs142234258 0.00186
NM_005670.4(EPM2A):c.722G>A (p.Arg241Gln) rs146321088 0.00186
NM_014780.5(CUL7):c.2645G>A (p.Arg882Gln) rs45574335 0.00185
NM_016239.4(MYO15A):c.4033A>T (p.Ile1345Leu) rs201234482 0.00185
NM_020549.5(CHAT):c.1248C>T (p.Asn416=) rs116071049 0.00185
NM_181882.3(PRX):c.2254G>A (p.Glu752Lys) rs147587689 0.00185
NM_000463.3(UGT1A1):c.540A>G (p.Glu180=) rs148755655 0.00184
NM_001044385.3(TMEM237):c.1090G>A (p.Val364Met) rs138509553 0.00184
NM_015404.4(WHRN):c.1627-5T>A rs187221008 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_001128840.3(CACNA1D):c.1998G>A (p.Leu666=) rs146747080 0.00183
NM_001195248.2(APTX):c.742T>A (p.Leu248Met) rs141195622 0.00183
NM_007254.4(PNKP):c.416G>A (p.Arg139His) rs34472250 0.00183
NM_153676.4(USH1C):c.2014-1G>A rs150567427 0.00183
NM_203288.2(RP9):c.34G>A (p.Ala12Thr) rs775870239 0.00183
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr) rs202215735 0.00182
NM_001130823.3(DNMT1):c.150C>T (p.His50=) rs146112081 0.00182
NM_001164508.2(NEB):c.21685G>C (p.Asp7229His) rs201979610 0.00182
NM_004239.4(TRIP11):c.5137G>C (p.Glu1713Gln) rs137974620 0.00182
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=) rs145144233 0.00182
NM_144991.3(TSPEAR):c.343G>A (p.Asp115Asn) rs144586270 0.00182
NM_173660.5(DOK7):c.1278C>T (p.Pro426=) rs139468087 0.00181
NM_177965.4(CFAP418):c.512T>G (p.Ile171Arg) rs143893647 0.00181
NM_000452.3(SLC10A2):c.762-3T>C rs190734512 0.00180
NM_000709.4(BCKDHA):c.485-28G>A rs114178789 0.00180
NM_005559.4(LAMA1):c.6354C>T (p.Val2118=) rs150849018 0.00180
NM_000124.4(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163 0.00179
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661 0.00179
NM_005422.4(TECTA):c.701A>G (p.Gln234Arg) rs144682235 0.00179
NM_006204.4(PDE6C):c.2082G>A (p.Met694Ile) rs150112560 0.00179
NM_022437.3(ABCG8):c.1201A>T (p.Thr401Ser) rs144200355 0.00179
NM_000152.5(GAA):c.2332-12A>T rs200965268 0.00178
NM_000321.3(RB1):c.2212-15A>G rs372815788 0.00178
NM_000780.4(CYP7A1):c.38C>T (p.Ala13Val) rs147162838 0.00178
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_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile) rs189806840 0.00178
NM_004560.4(ROR2):c.2395C>T (p.Pro799Ser) rs141235720 0.00178
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762 0.00178
NM_020223.4(FAM20C):c.252C>A (p.Asn84Lys) rs190382829 0.00178
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846 0.00178
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu) rs116373169 0.00177
NM_001127649.3(PEX26):c.200A>G (p.Asn67Ser) rs201884779 0.00177
NM_001367624.2(ZNF469):c.10700G>A (p.Gly3567Glu) rs199610834 0.00177
NM_002900.3(RBP3):c.3062C>A (p.Ser1021Tyr) rs148591757 0.00177
NM_015311.3(OBSL1):c.375G>A (p.Glu125=) rs374656370 0.00177
NM_181426.2(CCDC39):c.2534T>C (p.Ile845Thr) rs139560004 0.00177
NM_000875.5(IGF1R):c.1532G>A (p.Arg511Gln) rs33958176 0.00176
NM_173630.4(RTTN):c.3048G>A (p.Pro1016=) rs149233888 0.00176
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu) rs139029314 0.00176
NM_000426.4(LAMA2):c.1621A>G (p.Ser541Gly) rs141363186 0.00175
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=) rs148108322 0.00175
NM_001034852.3(SMOC1):c.230C>T (p.Pro77Leu) rs143606483 0.00175
NM_005609.4(PYGM):c.924C>T (p.Ile308=) rs139726186 0.00175
NM_006059.4(LAMC3):c.1520-6G>A rs192031352 0.00175
NM_016729.3(FOLR1):c.493+2T>C rs144637717 0.00175
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) rs55999987 0.00175
NM_182943.3(PLOD2):c.1639T>C (p.Tyr547His) rs115199093 0.00175
NM_002181.4(IHH):c.1051G>A (p.Val351Met) rs143959492 0.00174
NM_005220.3(DLX3):c.710A>G (p.Tyr237Cys) rs142563930 0.00174
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro) rs139834542 0.00174
NM_000268.4(NF2):c.1123-6C>T rs147898623 0.00173
NM_001171.6(ABCC6):c.1263C>T (p.Thr421=) rs114179357 0.00173
NM_001953.5(TYMP):c.1290G>A (p.Arg430=) rs570574111 0.00173
NM_002529.4(NTRK1):c.10G>A (p.Gly4Ser) rs556840308 0.00173
NM_004727.3(SLC24A1):c.2778C>T (p.Pro926=) rs117685425 0.00173
NM_020812.4(DOCK6):c.4862T>C (p.Val1621Ala) rs201738818 0.00173
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202 0.00172
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) rs72677232 0.00172
NM_001366722.1(GRIP1):c.3207C>T (p.Pro1069=) rs187691546 0.00172
NM_001369.3(DNAH5):c.3734G>A (p.Arg1245His) rs77939839 0.00172
NM_001377.3(DYNC2H1):c.5047C>T (p.Leu1683Phe) rs201563576 0.00172
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val) rs138544311 0.00172
NM_002617.4(PEX10):c.712G>C (p.Gly238Arg) rs61736380 0.00172
NM_182914.3(SYNE2):c.9230C>T (p.Pro3077Leu) rs200742016 0.00172
NM_206933.4(USH2A):c.14753C>T (p.Thr4918Met) rs56136489 0.00172
NM_001277115.2(DNAH11):c.4001T>C (p.Ile1334Thr) rs72657309 0.00171
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) rs188336294 0.00171
NM_006279.5(ST3GAL3):c.618C>T (p.Arg206=) rs115003742 0.00171
NM_001142800.2(EYS):c.7737T>C (p.Thr2579=) rs191846522 0.00170
NM_001267550.2(TTN):c.8902+14T>A rs13388274 0.00170
NM_001364905.1(LRBA):c.2637G>A (p.Lys879=) rs138956153 0.00170
NM_001367624.2(ZNF469):c.1609G>A (p.Val537Met) rs184458982 0.00170
NM_004625.4(WNT7A):c.555C>T (p.Asn185=) rs149363953 0.00170
NM_004817.4(TJP2):c.185C>T (p.Thr62Met) rs138241615 0.00170
NM_013296.5(GPSM2):c.2043G>A (p.Ser681=) rs140949805 0.00170
NM_014780.5(CUL7):c.2614G>A (p.Gly872Ser) rs61750320 0.00170
NM_018451.5(CPAP):c.1021T>G (p.Tyr341Asp) rs143258862 0.00170
NM_194248.3(OTOF):c.2375G>A (p.Arg792Gln) rs144800506 0.00170
NM_000426.4(LAMA2):c.2462C>T (p.Thr821Met) rs117422805 0.00169
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=) rs56077602 0.00169
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly) rs61754024 0.00168
NM_000492.4(CFTR):c.1365G>A (p.Ala455=) rs79074685 0.00168
NM_000539.3(RHO):c.480C>A (p.Thr160=) rs151063543 0.00168
NM_001371986.1(UNC80):c.4141C>G (p.Pro1381Ala) rs192242889 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_020427.3(SLURP1):c.310T>C (p.Ter104Arg) rs62636565 0.00168
NM_016203.4(PRKAG2):c.1098A>G (p.Pro366=) rs116541276 0.00167
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857 0.00166
NM_006208.3(ENPP1):c.2757A>T (p.Pro919=) rs73541508 0.00166
NM_015175.3(NBEAL2):c.7658G>A (p.Gly2553Glu) rs144664865 0.00166
NM_033100.4(CDHR1):c.526-7C>G rs190906755 0.00166
NM_000426.4(LAMA2):c.7111T>G (p.Phe2371Val) rs150644209 0.00164
NM_003193.5(TBCE):c.394G>A (p.Val132Ile) rs144448831 0.00164
NM_003701.4(TNFSF11):c.214G>A (p.Ala72Thr) rs142756983 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_001038603.3(MARVELD2):c.898T>A (p.Leu300Met) rs72773422 0.00163
NM_001482.3(GATM):c.669T>C (p.Tyr223=) rs151231277 0.00163
NM_144631.6(ZNF513):c.290C>T (p.Ala97Val) rs35554630 0.00163
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388 0.00162
NM_001164508.2(NEB):c.9071C>T (p.Ala3024Val) rs143933602 0.00162
NM_001386140.1(MTTP):c.419A>G (p.Asn140Ser) rs61733140 0.00162
NM_018979.4(WNK1):c.6150T>C (p.Leu2050=) rs151331381 0.00162
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142 0.00162
NM_153676.4(USH1C):c.674+4G>A rs202095395 0.00162
NM_001130987.2(DYSF):c.5503C>T (p.Arg1835Trp) rs139879284 0.00161
NM_024577.4(SH3TC2):c.1862G>A (p.Arg621His) rs143032801 0.00161
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile) rs149871493 0.00161
NM_001004334.4(GPR179):c.5975G>A (p.Gly1992Asp) rs200936863 0.00160
NM_005199.5(CHRNG):c.1115C>T (p.Ser372Phe) rs145433186 0.00160
NM_005522.5(HOXA1):c.684A>G (p.Gln228=) rs34462126 0.00160
NM_018979.4(WNK1):c.1074C>T (p.Thr358=) rs72648621 0.00160
NM_033056.4(PCDH15):c.5565C>T (p.Ala1855=) rs111033445 0.00160
NM_153026.3(PRICKLE1):c.2404C>T (p.Pro802Ser) rs150545495 0.00160
NM_000392.5(ABCC2):c.3492C>T (p.Ser1164=) rs144192700 0.00159
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val) rs142679083 0.00159
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) rs143578698 0.00159
NM_032119.4(ADGRV1):c.3443G>A (p.Gly1148Asp) rs200945405 0.00159
NM_000532.5(PCCB):c.815G>A (p.Arg272Gln) rs150555106 0.00158
NM_001145715.3(KPNA7):c.1317+3G>A rs138176387 0.00158
NM_001298.3(CNGA3):c.740C>T (p.Thr247Met) rs148616345 0.00158
NM_001369.3(DNAH5):c.1206T>A (p.Asn402Lys) rs140782270 0.00158
NM_001379286.1(ZNF423):c.1655G>T (p.Gly552Val) rs34425379 0.00158
NM_016239.4(MYO15A):c.823G>C (p.Gly275Arg) rs183969516 0.00158
NM_022437.3(ABCG8):c.1094C>T (p.Thr365Met) rs140778634 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_005609.4(PYGM):c.1237A>T (p.Asn413Tyr) rs142054672 0.00157
NM_016729.3(FOLR1):c.508G>A (p.Ala170Thr) rs139633601 0.00157
NM_017777.4(MKS1):c.1349T>C (p.Ile450Thr) rs200865108 0.00157
NM_201384.3(PLEC):c.2458-8C>T rs201818691 0.00157
NM_000255.4(MMUT):c.1125G>A (p.Met375Ile) rs148091558 0.00156
NM_006019.4(TCIRG1):c.90C>T (p.Gly30=) rs141859450 0.00156
NM_012301.4(MAGI2):c.2142G>A (p.Pro714=) rs144574076 0.00156
NM_032856.5(WDR73):c.935G>A (p.Arg312Gln) rs201294090 0.00156
NM_001003722.2(GLE1):c.1393T>A (p.Ser465Thr) rs141709685 0.00155
NM_001081.4(CUBN):c.5069C>T (p.Ala1690Val) rs141640975 0.00155
NM_001130987.2(DYSF):c.3403-10G>A rs116733194 0.00155
NM_001366722.1(GRIP1):c.2381T>G (p.Met794Arg) rs144494437 0.00155
NM_002241.5(KCNJ10):c.735C>G (p.Asp245Glu) rs146426296 0.00155
NM_020366.4(RPGRIP1):c.1753C>T (p.Pro585Ser) rs147586703 0.00155
NM_000362.5(TIMP3):c.516C>T (p.Phe172=) rs149161075 0.00154
NM_001370658.1(BTD):c.201C>T (p.Asn67=) rs147057169 0.00154
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr) rs80116829 0.00154
NM_003737.4(DCHS1):c.4555C>T (p.Pro1519Ser) rs199544459 0.00154
NM_019066.5(MAGEL2):c.1470G>A (p.Pro490=) rs771501846 0.00154
NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr) rs77959215 0.00154
NM_001286445.3(RIPOR2):c.3133A>G (p.Thr1045Ala) rs373913240 0.00153
NM_002900.3(RBP3):c.418G>A (p.Gly140Ser) rs34932849 0.00153
NM_005216.5(DDOST):c.1148C>T (p.Thr383Ile) rs145940009 0.00153
NM_018136.5(ASPM):c.4733G>A (p.Arg1578Gln) rs143822761 0.00153
NM_201384.3(PLEC):c.2551G>A (p.Val851Met) rs200647397 0.00153
NM_201384.3(PLEC):c.8051G>A (p.Arg2684Gln) rs200239963 0.00153
NM_201548.5(CERKL):c.820+9G>A rs189638090 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_004525.3(LRP2):c.9477G>A (p.Met3159Ile) rs144322413 0.00152
NM_006017.3(PROM1):c.1345G>A (p.Val449Met) rs200620291 0.00152
NM_133259.4(LRPPRC):c.3275+7G>A rs111392631 0.00152
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704 0.00151
NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val) rs184018403 0.00151
NM_022098.4(XPNPEP3):c.590-8A>G rs143719656 0.00151
NM_000426.4(LAMA2):c.8728G>A (p.Val2910Ile) rs141479751 0.00150
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys) rs141399869 0.00150
NM_017780.4(CHD7):c.2067G>A (p.Thr689=) rs34979623 0.00150
NM_198525.3(KIF7):c.3514C>A (p.Arg1172=) rs138196132 0.00150
NM_198525.3(KIF7):c.3998C>A (p.Pro1333Gln) rs145726393 0.00150
NM_000553.6(WRN):c.355+4G>C rs145764920 0.00149
NM_001277115.2(DNAH11):c.3466G>A (p.Gly1156Arg) rs183521702 0.00149
NM_001378454.1(ALMS1):c.2036A>G (p.Tyr679Cys) rs199573929 0.00149
NM_001845.6(COL4A1):c.1466-6C>T rs183563055 0.00149
NM_001966.4(EHHADH):c.1666A>G (p.Arg556Gly) rs140735525 0.00149
NM_016239.4(MYO15A):c.6785G>A (p.Arg2262His) rs200623501 0.00149
NM_032119.4(ADGRV1):c.15786C>T (p.Phe5262=) rs369083434 0.00149
NM_000642.3(AGL):c.1885G>A (p.Glu629Lys) rs146041189 0.00148
NM_004994.3(MMP9):c.773C>T (p.Thr258Ile) rs41529445 0.00148
NM_012418.4(FSCN2):c.1230C>T (p.Asp410=) rs182593453 0.00148
NM_018451.5(CPAP):c.646T>C (p.Cys216Arg) rs143260721 0.00148
NM_025137.4(SPG11):c.4744-6T>C rs147550048 0.00148
NM_000091.5(COL4A3):c.4445C>T (p.Ala1482Val) rs199755408 0.00147
NM_000350.3(ABCA4):c.5693G>A (p.Arg1898His) rs1800552 0.00147
NM_001159773.2(CANT1):c.56G>A (p.Arg19Gln) rs144060377 0.00147
NM_005219.5(DIAPH1):c.1736G>A (p.Arg579His) rs182139018 0.00147
NM_025137.4(SPG11):c.7069C>T (p.Leu2357Phe) rs139334167 0.00147
NM_194318.4(B3GLCT):c.1371A>G (p.Gln457=) rs114941150 0.00147
NM_001082538.3(TCTN1):c.1471A>T (p.Ile491Phe) rs201894544 0.00146
NM_001083614.2(EARS2):c.1045G>A (p.Glu349Lys) rs187662524 0.00146
NM_001164508.2(NEB):c.7126G>C (p.Val2376Leu) rs141155976 0.00146
NM_001278182.2(EOMES):c.436C>T (p.Leu146Phe) rs200215171 0.00146
NM_001369.3(DNAH5):c.8845C>G (p.Gln2949Glu) rs147688221 0.00146
NM_001374385.1(ATP8B1):c.150A>G (p.Glu50=) rs137973298 0.00146
NM_015272.5(RPGRIP1L):c.640G>A (p.Val214Ile) rs139067427 0.00146
NM_138694.4(PKHD1):c.1342G>C (p.Gly448Arg) rs149781976 0.00146
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259 0.00145
NM_000433.4(NCF2):c.113G>A (p.Arg38Gln) rs147415774 0.00145
NM_001164508.2(NEB):c.22878C>A (p.Ala7626=) rs185574478 0.00145
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_004183.4(BEST1):c.637-6C>T rs62639356 0.00145
NM_005957.5(MTHFR):c.1761C>T (p.Ala587=) rs115049252 0.00145
NM_006269.2(RP1):c.3826C>T (p.Pro1276Ser) rs151316028 0.00145
NM_016239.4(MYO15A):c.4623G>A (p.Thr1541=) rs926074 0.00145
NM_018965.4(TREM2):c.259G>A (p.Asp87Asn) rs142232675 0.00145
NM_022436.3(ABCG5):c.957C>T (p.Ser319=) rs146131711 0.00145
NM_032119.4(ADGRV1):c.5072C>T (p.Thr1691Met) rs146954342 0.00145
NM_138694.4(PKHD1):c.7307C>T (p.Thr2436Ile) rs147851214 0.00145
NM_145200.5(CABP4):c.155G>A (p.Arg52Gln) rs145789542 0.00145
NM_201384.3(PLEC):c.9558A>G (p.Thr3186=) rs201102719 0.00145
NM_201525.4(ADGRG1):c.1810C>T (p.Leu604=) rs113358058 0.00145
NM_001365536.1(SCN9A):c.3051G>C (p.Lys1017Asn) rs147623238 0.00144
NM_001848.3(COL6A1):c.588+8C>G rs398123638 0.00144
NM_002180.3(IGHMBP2):c.2922T>G (p.Asp974Glu) rs147674615 0.00144
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly) rs560874115 0.00144
NM_005562.3(LAMC2):c.889A>G (p.Thr297Ala) rs143817389 0.00144
NM_024301.5(FKRP):c.567C>T (p.Pro189=) rs201454433 0.00144
NM_033100.4(CDHR1):c.1461G>A (p.Gly487=) rs141787212 0.00144
NM_181741.4(ORC4):c.353T>C (p.Leu118Ser) rs61750441 0.00144
NM_198525.3(KIF7):c.3842G>T (p.Ser1281Ile) rs143877028 0.00144
NM_000443.4(ABCB4):c.3037A>C (p.Arg1013=) rs2230029 0.00143
NM_000642.3(AGL):c.1875G>T (p.Thr625=) rs141944878 0.00143
NM_001017995.3(SH3PXD2B):c.1955C>T (p.Thr652Met) rs148050566 0.00143
NM_001353214.3(DYM):c.620+4T>G rs201652921 0.00143
NM_001458.5(FLNC):c.6714C>T (p.Thr2238=) rs10268251 0.00143
NM_025243.4(SLC19A3):c.621A>G (p.Ile207Met) rs145804755 0.00143
NM_201384.3(PLEC):c.6198G>T (p.Gln2066His) rs201574539 0.00143
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966 0.00142
NM_000326.5(RLBP1):c.141+6G>A rs181321141 0.00142
NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys) rs61757671 0.00142
NM_016239.4(MYO15A):c.54G>A (p.Lys18=) rs144909486 0.00142
NM_018344.6(SLC29A3):c.687C>T (p.Ser229=) rs113542201 0.00142
NM_020631.6(PLEKHG5):c.1932T>C (p.Pro644=) rs150807400 0.00142
NM_000208.4(INSR):c.2838C>G (p.Asp946Glu) rs146588336 0.00141
NM_002471.4(MYH6):c.5400C>T (p.Asp1800=) rs144329079 0.00141
NM_005422.4(TECTA):c.3097C>T (p.Arg1033Trp) rs142486386 0.00141
NM_201384.3(PLEC):c.8660A>G (p.Lys2887Arg) rs201655861 0.00141
NM_000436.4(OXCT1):c.1491C>T (p.Asp497=) rs144283422 0.00140
NM_001164508.2(NEB):c.19626T>C (p.Asp6542=) rs190336010 0.00140
NM_001379500.1(COL18A1):c.2849G>A (p.Arg950His) rs202106628 0.00140
NM_004820.5(CYP7B1):c.1464G>A (p.Leu488=) rs114797034 0.00140
NM_015294.6(TRIM37):c.1919G>A (p.Arg640His) rs112762655 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_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642 0.00139
NM_001386140.1(MTTP):c.2433G>C (p.Leu811Phe) rs144590904 0.00139
NM_014254.3(RXYLT1):c.252C>T (p.Ser84=) rs141095352 0.00139
NM_182914.3(SYNE2):c.15928T>C (p.Leu5310=) rs74975380 0.00139
NM_207361.6(FREM2):c.5642-9T>C rs148794835 0.00139
NM_001267550.2(TTN):c.30718G>T (p.Val10240Phe) rs111671438 0.00138
NM_003846.3(PEX11B):c.483A>G (p.Gly161=) rs148000769 0.00138
NM_014336.5(AIPL1):c.244C>T (p.His82Tyr) rs144822294 0.00138
NM_000124.4(ERCC6):c.2924G>A (p.Arg975Gln) rs145720191 0.00137
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 0.00137
NM_032119.4(ADGRV1):c.8815C>T (p.Pro2939Ser) rs202211640 0.00137
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715 0.00137
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042 0.00136
NM_001042472.3(ABHD12):c.1113G>A (p.Arg371=) rs146028040 0.00136
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys) rs141280063 0.00135
NM_012254.3(SLC27A5):c.899-6C>T rs200114980 0.00135
NM_015311.3(OBSL1):c.2466C>T (p.Ser822=) rs146306059 0.00135
NM_020779.4(WDR35):c.1183A>T (p.Asn395Tyr) rs143343508 0.00135
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_001164508.2(NEB):c.1206C>T (p.Cys402=) rs199695976 0.00134
NM_005957.5(MTHFR):c.708C>T (p.Phe236=) rs34279942 0.00134
NM_153676.4(USH1C):c.1906C>T (p.Arg636Cys) rs149510892 0.00134
NM_201384.3(PLEC):c.174+10del rs528031000 0.00134
NM_000124.4(ERCC6):c.2096C>T (p.Thr699Met) rs55698015 0.00133
NM_000243.3(MEFV):c.986G>A (p.Arg329His) rs104895112 0.00133
NM_001367624.2(ZNF469):c.2270T>G (p.Leu757Arg) rs753664726 0.00133
NM_001384474.1(LOXHD1):c.1961C>T (p.Pro654Leu) rs369297699 0.00133
NM_004239.4(TRIP11):c.382G>T (p.Ala128Ser) rs141553918 0.00133
NM_007254.4(PNKP):c.1491C>T (p.Ala497=) rs116192442 0.00133
NM_015175.3(NBEAL2):c.1948G>A (p.Gly650Arg) rs201373710 0.00133
NM_025074.7(FRAS1):c.11264C>T (p.Pro3755Leu) rs199510509 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_000285.4(PEPD):c.104G>A (p.Arg35Gln) rs200435937 0.00132
NM_000290.4(PGAM2):c.310G>A (p.Ala104Thr) rs150570281 0.00132
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys) rs141212446 0.00132
NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr) rs142614369 0.00132
NM_001035.3(RYR2):c.10641G>A (p.Thr3547=) rs144256966 0.00132
NM_001195263.2(PDZD7):c.2250G>T (p.Trp750Cys) rs759725715 0.00132
NM_002435.3(MPI):c.10C>T (p.Pro4Ser) rs143982014 0.00132
NM_003737.4(DCHS1):c.1493G>A (p.Arg498Gln) rs150834672 0.00132
NM_016239.4(MYO15A):c.2194C>T (p.Pro732Ser) rs376451611 0.00132
NM_025074.7(FRAS1):c.108+10T>G rs76831011 0.00132
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399 0.00132
NM_201384.3(PLEC):c.11524G>A (p.Glu3842Lys) rs187011732 0.00132
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230 0.00131
NM_001029883.3(PCARE):c.2418C>T (p.Pro806=) rs189042259 0.00131
NM_001127222.2(CACNA1A):c.1623G>A (p.Gly541=) rs375628894 0.00131
NM_001127671.2(LIFR):c.364A>G (p.Thr122Ala) rs145163157 0.00131
NM_001164508.2(NEB):c.25035C>T (p.Asp8345=) rs201825451 0.00131
NM_001330078.2(NRXN1):c.322C>T (p.Pro108Ser) rs199784029 0.00131
NM_001355436.2(SPTB):c.5050C>T (p.Arg1684Cys) rs141226650 0.00131
NM_001367624.2(ZNF469):c.9516C>T (p.Ala3172=) rs577913880 0.00131
NM_001370298.3(FGD4):c.2560G>A (p.Val854Met) rs61753359 0.00131
NM_001875.5(CPS1):c.4252C>T (p.Pro1418Ser) rs150966847 0.00131
NM_002241.5(KCNJ10):c.136G>A (p.Asp46Asn) rs141553756 0.00131
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp) rs150165484 0.00131
NM_014140.4(SMARCAL1):c.2528+5G>C rs145908212 0.00131
NM_015192.4(PLCB1):c.2550G>T (p.Glu850Asp) rs141433824 0.00131
NM_025074.7(FRAS1):c.7039G>T (p.Val2347Phe) rs201369510 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_181882.3(PRX):c.1574T>C (p.Val525Ala) rs149715830 0.00131
NM_000350.3(ABCA4):c.2690C>T (p.Thr897Ile) rs61749440 0.00130
NM_001367624.2(ZNF469):c.8788G>T (p.Asp2930Tyr) rs76792613 0.00130
NM_007118.4(TRIO):c.41C>T (p.Ser14Phe) rs905287265 0.00130
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg) rs45527543 0.00130
NM_016239.4(MYO15A):c.6186C>A (p.Ala2062=) rs141475629 0.00130
NM_017807.4(OSGEP):c.355C>T (p.Leu119Phe) rs147548960 0.00130
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys) rs140148105 0.00130
NM_000030.3(AGXT):c.866G>A (p.Arg289His) rs61729604 0.00129
NM_000392.5(ABCC2):c.4430C>T (p.Thr1477Met) rs142573385 0.00129
NM_001164508.2(NEB):c.3623T>C (p.Ile1208Thr) rs201141958 0.00129
NM_001193315.2(VIPAS39):c.1455C>A (p.Ser485Arg) rs145453157 0.00129
NM_001277115.2(DNAH11):c.2486G>A (p.Arg829His) rs201261243 0.00129
NM_001377.3(DYNC2H1):c.8481A>C (p.Thr2827=) rs370627443 0.00129
NM_003322.6(TULP1):c.1376T>C (p.Ile459Thr) rs121909075 0.00129
NM_005529.7(HSPG2):c.4601C>G (p.Pro1534Arg) rs142736845 0.00129
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met) rs139872089 0.00129
NM_144991.3(TSPEAR):c.151G>A (p.Val51Ile) rs150016894 0.00129
NM_201384.3(PLEC):c.12876G>A (p.Val4292=) rs199509259 0.00129
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00128
NM_000159.4(GCDH):c.1143C>T (p.Ile381=) rs142553521 0.00128
NM_001142800.2(EYS):c.5474C>A (p.Thr1825Asn) rs182151153 0.00128
NM_001365536.1(SCN9A):c.3509T>C (p.Ile1170Thr) rs73019664 0.00128
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val) rs145564837 0.00128
NM_020451.3(SELENON):c.729G>A (p.Pro243=) rs139020143 0.00128
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) rs115563233 0.00128
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229 0.00127
NM_000208.4(INSR):c.2736G>A (p.Arg912=) rs147125937 0.00127
NM_000843.4(GRM6):c.1944G>T (p.Ala648=) rs62638619 0.00127
NM_001292063.2(OTOG):c.7510G>A (p.Ala2504Thr) rs548278514 0.00127
NM_001364905.1(LRBA):c.2340A>G (p.Thr780=) rs79392371 0.00127
NM_001384140.1(PCDH15):c.4891C>T (p.Leu1631=) rs200155519 0.00127
NM_001457.4(FLNB):c.6000T>C (p.Gly2000=) rs140926445 0.00127
NM_001458.5(FLNC):c.1813+11G>T rs138716837 0.00127
NM_006204.4(PDE6C):c.742A>G (p.Asn248Asp) rs140524715 0.00127
NM_022089.4(ATP13A2):c.2859G>A (p.Thr953=) rs144557304 0.00127
NM_025136.4(OPA3):c.478C>T (p.Arg160Cys) rs137978109 0.00127
NM_182961.4(SYNE1):c.21781C>A (p.Arg7261=) rs138032057 0.00127
NM_194248.3(OTOF):c.578G>T (p.Arg193Ile) rs139779680 0.00127
NM_000124.4(ERCC6):c.3061A>G (p.Ile1021Val) rs41562713 0.00126
NM_000463.3(UGT1A1):c.1122T>C (p.Gly374=) rs139698110 0.00126
NM_000540.3(RYR1):c.7923C>G (p.Leu2641=) rs142558977 0.00126
NM_002900.3(RBP3):c.1795A>G (p.Ile599Val) rs144289912 0.00126
NM_014875.3(KIF14):c.346G>A (p.Glu116Lys) rs141768593 0.00126
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546 0.00126
NM_206933.4(USH2A):c.8315C>T (p.Thr2772Ile) rs150807452 0.00126
NM_000823.4(GHRHR):c.512C>G (p.Thr171Ser) rs10227922 0.00125
NM_001038603.3(MARVELD2):c.1407C>T (p.Tyr469=) rs61736168 0.00125
NM_004369.4(COL6A3):c.489G>A (p.Ala163=) rs148970984 0.00125
NM_016219.5(MAN1B1):c.1800C>T (p.Thr600=) rs146417316 0.00125
NM_020549.5(CHAT):c.909C>T (p.His303=) rs76570508 0.00125
NM_025114.4(CEP290):c.4102G>A (p.Asp1368Asn) rs184143186 0.00125
NM_030973.4(MED25):c.396C>T (p.Arg132=) rs142353864 0.00125
NM_000391.4(TPP1):c.14C>A (p.Ala5Asp) rs138976576 0.00124
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser) rs147580753 0.00124
NM_002180.3(IGHMBP2):c.1603A>G (p.Ile535Val) rs140221316 0.00124
NM_002472.3(MYH8):c.1209C>A (p.Cys403Ter) rs144321381 0.00124
NM_004727.3(SLC24A1):c.2445C>T (p.His815=) rs185027365 0.00124
NM_006420.3(ARFGEF2):c.3892G>A (p.Gly1298Ser) rs139037316 0.00124
NM_015102.5(NPHP4):c.800A>T (p.His267Leu) rs201124357 0.00124
NM_020451.3(SELENON):c.1715C>A (p.Thr572Asn) rs183272965 0.00124
NM_022124.6(CDH23):c.3361A>T (p.Ile1121Phe) rs200542052 0.00124
NM_024301.5(FKRP):c.740C>A (p.Pro247Gln) rs528000488 0.00124
NM_173602.3(DIP2B):c.2755C>A (p.Gln919Lys) rs151181050 0.00124
NM_001122769.3(LCA5):c.2026G>T (p.Asp676Tyr) rs143582502 0.00123
NM_001384474.1(LOXHD1):c.2914G>A (p.Glu972Lys) rs367630521 0.00123
NM_001458.5(FLNC):c.7862G>A (p.Arg2621Gln) rs201636548 0.00123
NM_003865.3(HESX1):c.525G>A (p.Ala175=) rs141063672 0.00123
NM_006059.4(LAMC3):c.2066C>T (p.Pro689Leu) rs113443891 0.00123
NM_006261.5(PROP1):c.471C>T (p.Tyr157=) rs145883811 0.00123
NM_006302.3(MOGS):c.2055T>C (p.Tyr685=) rs202094225 0.00123
NM_006662.3(SRCAP):c.4189A>G (p.Ile1397Val) rs144657822 0.00123
NM_014244.5(ADAMTS2):c.94C>T (p.Pro32Ser) rs547548078 0.00123
NM_017534.6(MYH2):c.3127T>G (p.Ser1043Ala) rs11658164 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_201384.3(PLEC):c.9034G>A (p.Glu3012Lys) rs200898220 0.00123
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886 0.00122
NM_001010892.3(RSPH4A):c.1990C>T (p.Pro664Ser) rs146142715 0.00122
NM_001114086.2(CLIC5):c.361G>A (p.Ala121Thr) rs189893797 0.00122
NM_002334.4(LRP4):c.639C>T (p.Asp213=) rs144974139 0.00122
NM_006201.5(CDK16):c.727C>T (p.Leu243=) rs145117961 0.00122
NM_020822.3(KCNT1):c.3256G>A (p.Gly1086Arg) rs201156458 0.00122
NM_000414.4(HSD17B4):c.1210-8T>C rs34254740 0.00121
NM_000426.4(LAMA2):c.8692A>C (p.Arg2898=) rs200718262 0.00121
NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys) rs140901235 0.00121
NM_001061.7(TBXAS1):c.1394G>A (p.Arg465Gln) rs41311778 0.00121
NM_001128178.3(NPHP1):c.803T>C (p.Met268Thr) rs114250691 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_001365536.1(SCN9A):c.5791G>C (p.Asp1931His) rs200410805 0.00121
NM_002900.3(RBP3):c.299C>T (p.Pro100Leu) rs143076262 0.00121
NM_005120.3(MED12):c.5400+6C>T rs192656109 0.00121
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949 0.00121
NM_022124.6(CDH23):c.6648C>T (p.Ala2216=) rs186394654 0.00121
NM_022436.3(ABCG5):c.1744G>A (p.Gly582Arg) rs144973796 0.00121
NM_033100.4(CDHR1):c.1133G>A (p.Arg378Gln) rs140621272 0.00121
NM_133261.3(GIPC3):c.856G>A (p.Val286Ile) rs138339125 0.00121
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109 0.00121
NM_153026.3(PRICKLE1):c.1461C>T (p.Ser487=) rs116197349 0.00121
NM_153717.3(EVC):c.89C>T (p.Pro30Leu) rs886044558 0.00121
NM_182961.4(SYNE1):c.9655G>A (p.Val3219Ile) rs140927945 0.00121
NM_198525.3(KIF7):c.3738C>G (p.Pro1246=) rs144929293 0.00121
NM_206933.4(USH2A):c.11467G>A (p.Val3823Ile) rs142481947 0.00121
NM_000350.3(ABCA4):c.1029T>C (p.Asn343=) rs145483148 0.00120
NM_000392.5(ABCC2):c.998A>G (p.Asp333Gly) rs17222674 0.00120
NM_001127496.3(SPRY4):c.461A>G (p.Lys154Arg) rs78310959 0.00120
NM_001142800.2(EYS):c.5743A>G (p.Ser1915Gly) rs188093810 0.00120
NM_001395413.1(POR):c.1882G>A (p.Val628Ile) rs145782750 0.00120
NM_003193.5(TBCE):c.585C>T (p.Ser195=) rs139440109 0.00120
NM_012232.6(CAVIN1):c.923A>G (p.Tyr308Cys) rs146799286 0.00120
NM_016169.4(SUFU):c.600C>T (p.Ile200=) rs149513330 0.00120
NM_001079802.2(FKTN):c.166-4A>G rs193922689 0.00119
NM_001164508.2(NEB):c.12C>T (p.Asp4=) rs117178114 0.00119
NM_001384474.1(LOXHD1):c.5767C>G (p.Gln1923Glu) rs377368588 0.00119
NM_004447.6(EPS8):c.1638C>T (p.Asn546=) rs149455769 0.00119
NM_004530.6(MMP2):c.1858G>A (p.Val620Ile) rs41459945 0.00119
NM_005677.4(COLQ):c.106+6T>C rs201376373 0.00119
NM_017739.4(POMGNT1):c.839G>A (p.Ser280Asn) rs142485035 0.00119
NM_133642.5(LARGE1):c.1420G>A (p.Val474Ile) rs150861748 0.00119
NM_001017995.3(SH3PXD2B):c.698C>T (p.Thr233Ile) rs149519060 0.00118
NM_001384474.1(LOXHD1):c.1244T>G (p.Val415Gly) rs529972175 0.00118
NM_001793.6(CDH3):c.1681G>A (p.Val561Met) rs151198926 0.00118
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met) rs143713841 0.00118
NM_004994.3(MMP9):c.1891C>A (p.Arg631Ser) rs201280938 0.00118
NM_005957.5(MTHFR):c.1556G>T (p.Arg519Leu) rs45449298 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_015272.5(RPGRIP1L):c.482G>A (p.Arg161His) rs74957591 0.00118
NM_016008.4(DYNC2LI1):c.508-4G>A rs201151187 0.00118
NM_018136.5(ASPM):c.7620A>G (p.Ala2540=) rs147160053 0.00118
NM_033028.5(BBS4):c.208A>G (p.Ile70Val) rs142692981 0.00118
NM_198253.3(TERT):c.2769G>A (p.Pro923=) rs200174990 0.00118
NM_207361.6(FREM2):c.9038C>T (p.Thr3013Met) rs114400765 0.00118
NM_000180.4(GUCY2D):c.369C>T (p.Gly123=) rs529594203 0.00117
NM_000293.3(PHKB):c.1459-9G>T rs201995780 0.00117
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser) rs144873307 0.00117
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595 0.00117
NM_014028.4(OSTM1):c.143C>G (p.Ser48Trp) rs201176284 0.00117
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala) rs147370143 0.00117
NM_017777.4(MKS1):c.261+7C>T rs200156751 0.00117
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_182914.3(SYNE2):c.15445C>T (p.Arg5149Cys) rs143088941 0.00117
NM_206933.4(USH2A):c.6364G>T (p.Ala2122Ser) rs142786231 0.00117
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu) rs143523271 0.00116
NM_000233.4(LHCGR):c.1360G>A (p.Val454Ile) rs114320052 0.00116
NM_000540.3(RYR1):c.94C>T (p.Leu32Phe) rs138630815 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_001492.6(GDF1):c.55C>G (p.Leu19Val) rs370986101 0.00116
NM_001849.4(COL6A2):c.511G>A (p.Gly171Arg) rs200710788 0.00116
NM_002878.4(RAD51D):c.146C>T (p.Ala49Val) rs140317560 0.00116
NM_003742.4(ABCB11):c.3548T>C (p.Ile1183Thr) rs143484849 0.00116
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00116
NM_005477.3(HCN4):c.1356C>T (p.Ser452=) rs148453034 0.00116
NM_006383.4(CIB2):c.231G>A (p.Ala77=) rs144346527 0.00116
NM_052859.4(RFT1):c.826+7T>C rs192264403 0.00116
NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=) rs146424389 0.00116
NM_201384.3(PLEC):c.7753G>C (p.Glu2585Gln) rs200488179 0.00116
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu) rs201089582 0.00116
NM_000151.4(G6PC1):c.340+10C>A rs368450665 0.00115
NM_000287.4(PEX6):c.1718C>T (p.Thr573Ile) rs140769712 0.00115
NM_000337.6(SGCD):c.213G>A (p.Arg71=) rs74846539 0.00115
NM_000426.4(LAMA2):c.255C>T (p.Ile85=) rs142083777 0.00115
NM_000795.4(DRD2):c.928C>T (p.Pro310Ser) rs1800496 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_001365951.3(KIF1B):c.2115+6625G>A rs145248590 0.00115
NM_001849.4(COL6A2):c.1970-3C>A rs201879417 0.00115
NM_014140.4(SMARCAL1):c.1851+5G>A rs2066514 0.00115
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu) rs141715950 0.00115
NM_032119.4(ADGRV1):c.2023A>C (p.Ile675Leu) rs200187681 0.00115
NM_001164508.2(NEB):c.17510A>G (p.Lys5837Arg) rs201962649 0.00114
NM_001164508.2(NEB):c.23267T>C (p.Met7756Thr) rs201767727 0.00114
NM_005055.5(RAPSN):c.474C>T (p.Asp158=) rs56245238 0.00114
NM_005562.3(LAMC2):c.196G>A (p.Glu66Lys) rs146325169 0.00114
NM_018136.5(ASPM):c.4436A>G (p.Lys1479Arg) rs115594989 0.00114
NM_032119.4(ADGRV1):c.207+3A>G rs142356935 0.00114
NM_000138.5(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054 0.00113
NM_000152.5(GAA):c.915G>A (p.Gly305=) rs150343359 0.00113
NM_000286.3(PEX12):c.452G>A (p.Arg151His) rs150186509 0.00113
NM_000719.7(CACNA1C):c.724C>T (p.Leu242=) rs200800133 0.00113
NM_001004334.4(GPR179):c.3401G>A (p.Arg1134Gln) rs112987826 0.00113
NM_001042702.5(PJVK):c.250T>A (p.Ser84Thr) rs200507933 0.00113
NM_001083961.2(WDR62):c.3440A>G (p.Tyr1147Cys) rs146867414 0.00113
NM_001110219.3(GJB6):c.15G>A (p.Thr5=) rs150075979 0.00113
NM_001298.3(CNGA3):c.1618G>A (p.Val540Ile) rs116448158 0.00113
NM_001364905.1(LRBA):c.6887C>A (p.Thr2296Asn) rs151286835 0.00113
NM_001369.3(DNAH5):c.3775G>A (p.Ala1259Thr) rs112217391 0.00113
NM_001378609.3(OTOGL):c.860C>T (p.Ser287Leu) rs147195954 0.00113
NM_004380.3(CREBBP):c.5829G>A (p.Pro1943=) rs546554430 0.00113
NM_006269.2(RP1):c.4030T>C (p.Phe1344Leu) rs146256526 0.00113
NM_000152.5(GAA):c.2415G>A (p.Val805=) rs150536507 0.00112
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033 0.00112
NM_001130987.2(DYSF):c.2956A>T (p.Met986Leu) rs144636654 0.00112
NM_001146079.2(CLDN14):c.406G>A (p.Val136Ile) rs140918123 0.00112
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys) rs149082597 0.00112
NM_004646.4(NPHS1):c.658T>G (p.Ser220Ala) rs115333628 0.00112
NM_022081.6(HPS4):c.557C>T (p.Ser186Leu) rs61729175 0.00112
NM_000340.2(SLC2A2):c.1087G>T (p.Ala363Ser) rs76362149 0.00111
NM_001164508.2(NEB):c.5747T>C (p.Met1916Thr) rs142540692 0.00111
NM_001252024.2(TRPM1):c.2953A>C (p.Met985Leu) rs181499296 0.00111
NM_001353214.3(DYM):c.1868G>A (p.Arg623Gln) rs138427861 0.00111
NM_001367624.2(ZNF469):c.2297G>A (p.Arg766Gln) rs144492145 0.00111
NM_001369.3(DNAH5):c.8002G>A (p.Gly2668Arg) rs147236883 0.00111
NM_004183.4(BEST1):c.624G>A (p.Gln208=) rs150247275 0.00111
NM_018668.5(VPS33B):c.944G>A (p.Arg315Gln) rs145303578 0.00111
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339 0.00110
NM_001142800.2(EYS):c.5335G>A (p.Gly1779Ser) rs186499459 0.00110
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=) rs56402642 0.00110
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln) rs201255083 0.00110
NM_003896.4(ST3GAL5):c.155G>A (p.Arg52Gln) rs141917910 0.00110
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp) rs138466455 0.00110
NM_006941.4(SOX10):c.72C>T (p.Ser24=) rs763019569 0.00110
NM_015192.4(PLCB1):c.1491C>T (p.Phe497=) rs145869401 0.00110
NM_020661.4(AICDA):c.48A>G (p.Lys16=) rs186739900 0.00110
NM_133261.3(GIPC3):c.4G>A (p.Glu2Lys) rs764467903 0.00110
NM_182961.4(SYNE1):c.22068C>T (p.Thr7356=) rs35686213 0.00110
NM_201384.3(PLEC):c.5391C>T (p.Arg1797=) rs551187778 0.00110
NM_001130987.2(DYSF):c.4629C>G (p.Val1543=) rs142483266 0.00109
NM_001164508.2(NEB):c.2283C>T (p.Ala761=) rs373946448 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_001330078.2(NRXN1):c.4254A>G (p.Pro1418=) rs55923848 0.00109
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00109
NM_002857.4(PEX19):c.181-5C>T rs199818690 0.00109
NM_012254.3(SLC27A5):c.937C>T (p.Leu313=) rs143272701 0.00109
NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu) rs201065230 0.00109
NM_015631.6(TCTN3):c.1591-5C>T rs181107730 0.00109
NM_017837.4(PIGV):c.1277C>T (p.Pro426Leu) rs146969255 0.00109
NM_207122.2(EXT2):c.1178G>A (p.Arg393Gln) rs138187791 0.00109
NM_000255.4(MMUT):c.393G>A (p.Gln131=) rs145682249 0.00108
NM_000334.4(SCN4A):c.4690G>A (p.Val1564Ile) rs202106192 0.00108
NM_001082538.3(TCTN1):c.1410C>T (p.Tyr470=) rs370336923 0.00108
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile) rs183130427 0.00108
NM_001164508.2(NEB):c.4834C>T (p.Arg1612Cys) rs200545007 0.00108
NM_001177316.2(SLC34A3):c.375C>T (p.Gly125=) rs142873841 0.00108
NM_001189.4(NKX3-2):c.520G>C (p.Val174Leu) rs559539989 0.00108
NM_001384474.1(LOXHD1):c.177G>A (p.Thr59=) rs116413527 0.00108
NM_003073.5(SMARCB1):c.444C>T (p.Ser148=) rs138184483 0.00108
NM_004530.6(MMP2):c.759C>T (p.Ser253=) rs148801200 0.00108
NM_004560.4(ROR2):c.1583G>A (p.Arg528Gln) rs142215888 0.00108
NM_005751.5(AKAP9):c.10767G>A (p.Leu3589=) rs56198613 0.00108
NM_014780.5(CUL7):c.1067G>A (p.Arg356His) rs146227929 0.00108
NM_014780.5(CUL7):c.1859C>T (p.Pro620Leu) rs147326417 0.00108
NM_015426.5(POC1A):c.235G>A (p.Gly79Ser) rs35249554 0.00108
NM_018006.5(TRMU):c.296T>C (p.Ile99Thr) rs144054758 0.00108
NM_024753.5(TTC21B):c.2587C>T (p.Arg863Trp) rs34489989 0.00108
NM_080669.6(SLC46A1):c.158C>T (p.Ala53Val) rs41297069 0.00108
NM_181882.3(PRX):c.823C>A (p.Leu275Ile) rs200033507 0.00108
NM_201384.3(PLEC):c.7101G>A (p.Thr2367=) rs202132558 0.00108
NM_000327.4(ROM1):c.47G>A (p.Arg16His) rs143166696 0.00107
NM_000352.6(ABCC8):c.2610C>T (p.Ala870=) rs111967655 0.00107
NM_000515.5(GH1):c.15C>T (p.Ser5=) rs111957225 0.00107
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605 0.00107
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895 0.00107
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly) rs139848756 0.00107
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln) rs184394424 0.00107
NM_001457.4(FLNB):c.6047G>A (p.Arg2016Gln) rs137885421 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_022436.3(ABCG5):c.593G>A (p.Arg198Gln) rs141828689 0.00107
NM_025074.7(FRAS1):c.641C>T (p.Pro214Leu) rs200053639 0.00107
NM_138694.4(PKHD1):c.11130C>T (p.Ile3710=) rs146224907 0.00107
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00107
NM_198999.3(SLC26A5):c.1944A>C (p.Gln648His) rs148546326 0.00107
NM_201384.3(PLEC):c.3070G>A (p.Ala1024Thr) rs376665854 0.00107
NM_000142.5(FGFR3):c.1497C>T (p.Ala499=) rs140594137 0.00106
NM_000180.4(GUCY2D):c.3098C>T (p.Ser1033Leu) rs146149224 0.00106
NM_001048166.1(STIL):c.2362G>A (p.Val788Ile) rs149697952 0.00106
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950 0.00106
NM_001354712.2(THRB):c.532+8G>C rs146617205 0.00106
NM_001374385.1(ATP8B1):c.1014C>T (p.Asn338=) rs145750280 0.00106
NM_001458.5(FLNC):c.6998-5C>T rs139030003 0.00106
NM_001852.4(COL9A2):c.1041C>T (p.Gly347=) rs138882727 0.00106
NM_001999.4(FBN2):c.4100-9G>T rs377002313 0.00106
NM_003482.4(KMT2D):c.1797G>A (p.Leu599=) rs113282510 0.00106
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp) rs111033457 0.00106
NM_031471.6(FERMT3):c.1893C>T (p.Ile631=) rs142025489 0.00106
NM_033100.4(CDHR1):c.2229G>A (p.Arg743=) rs150969538 0.00106
NM_139125.4(MASP1):c.501C>G (p.Ser167=) rs16861801 0.00106
NM_201253.3(CRB1):c.484G>A (p.Val162Met) rs137853138 0.00106
NM_000274.4(OAT):c.969C>T (p.Tyr323=) rs138895801 0.00105
NM_000334.4(SCN4A):c.2478C>T (p.Ile826=) rs371914255 0.00105
NM_000784.4(CYP27A1):c.646+4C>T rs191313794 0.00105
NM_001039141.3(TRIOBP):c.3068C>T (p.Ala1023Val) rs201681832 0.00105
NM_001112704.2(VAX1):c.642G>A (p.Leu214=) rs554140675 0.00105
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val) rs141818764 0.00105
NM_001134407.3(GRIN2A):c.1354G>A (p.Val452Met) rs145956175 0.00105
NM_001297.5(CNGB1):c.878G>A (p.Ser293Asn) rs146170855 0.00105
NM_002180.3(IGHMBP2):c.2844G>A (p.Gly948=) rs147918962 0.00105
NM_005506.4(SCARB2):c.382C>G (p.Pro128Ala) rs143558324 0.00105
NM_016239.4(MYO15A):c.1552G>A (p.Glu518Lys) rs189255177 0.00105
NM_020436.5(SALL4):c.1287T>G (p.Phe429Leu) rs143818932 0.00105
NM_201384.3(PLEC):c.2844C>T (p.Pro948=) rs200482255 0.00105
NM_201525.4(ADGRG1):c.1983T>C (p.Gly661=) rs111939130 0.00105
NM_206933.4(USH2A):c.12505A>G (p.Thr4169Ala) rs113107803 0.00105
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00104
NM_001384732.1(CPLANE1):c.5928G>A (p.Gly1976=) rs34161326 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_007254.4(PNKP):c.650C>G (p.Thr217Ser) rs115259839 0.00104
NM_014908.4(DOLK):c.700A>G (p.Met234Val) rs139787271 0.00104
NM_014989.7(RIMS1):c.2699-8T>C rs149883454 0.00104
NM_024120.5(NDUFAF5):c.585T>C (p.Tyr195=) rs150955045 0.00104
NM_032119.4(ADGRV1):c.4214C>T (p.Ser1405Phe) rs41305898 0.00104
NM_138638.5(CFL2):c.21G>A (p.Val7=) rs149700171 0.00104
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=) rs118158347 0.00104
NM_182961.4(SYNE1):c.4822G>A (p.Ala1608Thr) rs138617999 0.00104
NM_000392.5(ABCC2):c.3614+6G>C rs17222716 0.00103
NM_001038603.3(MARVELD2):c.389T>A (p.Leu130His) rs144717803 0.00103
NM_001039141.3(TRIOBP):c.2811C>T (p.Ile937=) rs115800799 0.00103
NM_001134831.2(AHI1):c.986G>T (p.Arg329Leu) rs139944375 0.00103
NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val) rs200466720 0.00103
NM_004839.4(HOMER2):c.643C>T (p.Arg215Cys) rs199835958 0.00103
NM_005529.7(HSPG2):c.13018G>A (p.Val4340Met) rs145687082 0.00103
NM_005591.4(MRE11):c.1798G>C (p.Glu600Gln) rs145415033 0.00103
NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr) rs117390537 0.00103
NM_022041.4(GAN):c.1162C>T (p.Leu388=) rs73589395 0.00103
NM_022436.3(ABCG5):c.325T>C (p.Phe109Leu) rs201889290 0.00103
NM_130837.3(OPA1):c.85C>G (p.Pro29Ala) rs145565705 0.00103
NM_133642.5(LARGE1):c.408+8G>A rs141818070 0.00103
NM_205850.3(SLC24A5):c.1442T>C (p.Leu481Ser) rs146726548 0.00103
NM_000091.5(COL4A3):c.1886C>T (p.Thr629Met) rs139361545 0.00102
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=) rs61736827 0.00102
NM_001134363.3(RBM20):c.1602C>T (p.Asp534=) rs76048624 0.00102
NM_001189.4(NKX3-2):c.148T>G (p.Cys50Gly) rs371597026 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_005609.4(PYGM):c.999+20C>T rs201711087 0.00102
NM_015512.5(DNAH1):c.1351A>G (p.Lys451Glu) rs76591348 0.00102
NM_080669.6(SLC46A1):c.22C>T (p.Pro8Ser) rs41297065 0.00102
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=) rs137925439 0.00102
NM_173477.5(USH1G):c.715A>C (p.Lys239Gln) rs147967199 0.00102
NM_182961.4(SYNE1):c.24956G>A (p.Arg8319Gln) rs148008634 0.00102
NM_206933.4(USH2A):c.5612G>A (p.Gly1871Asp) rs140895792 0.00102
NM_000152.5(GAA):c.726G>A (p.Ala242=) rs148578399 0.00101
NM_000231.3(SGCG):c.539A>T (p.Glu180Val) rs114160429 0.00101
NM_000286.3(PEX12):c.722G>T (p.Gly241Val) rs139417458 0.00101
NM_000478.6(ALPL):c.818C>T (p.Thr273Met) rs148405563 0.00101
NM_000525.4(KCNJ11):c.678C>T (p.Pro226=) rs74162102 0.00101
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His) rs146504767 0.00101
NM_000540.3(RYR1):c.9355C>T (p.Arg3119Cys) rs61739911 0.00101
NM_001128840.3(CACNA1D):c.2805G>C (p.Leu935=) rs150266932 0.00101
NM_001353108.3(CEP63):c.905C>G (p.Thr302Ser) rs142766824 0.00101
NM_001379286.1(ZNF423):c.807C>T (p.Asp269=) rs145503941 0.00101
NM_001849.4(COL6A2):c.492C>T (p.His164=) rs140929054 0.00101
NM_001852.4(COL9A2):c.1576G>A (p.Val526Met) rs141556170 0.00101
NM_003630.3(PEX3):c.578+8A>G rs200807211 0.00101
NM_003742.4(ABCB11):c.2811A>T (p.Gly937=) rs192375476 0.00101
NM_006279.5(ST3GAL3):c.118+10G>C rs147330005 0.00101
NM_006343.3(MERTK):c.960+9C>A rs373198570 0.00101
NM_006420.3(ARFGEF2):c.1888G>A (p.Val630Ile) rs146772848 0.00101
NM_014141.6(CNTNAP2):c.73G>A (p.Ala25Thr) rs200866893 0.00101
NM_018136.5(ASPM):c.9276T>C (p.Gly3092=) rs151142538 0.00101
NM_020975.6(RET):c.1157C>T (p.Ala386Val) rs115272158 0.00101
NM_022124.6(CDH23):c.8167G>C (p.Val2723Leu) rs142857685 0.00101
NM_130468.4(CHST14):c.807T>C (p.Asp269=) rs139229738 0.00101
NM_138694.4(PKHD1):c.275G>A (p.Arg92Gln) rs145886657 0.00101
NM_182961.4(SYNE1):c.17827T>C (p.Ser5943Pro) rs147998933 0.00101
NM_001235.5(SERPINH1):c.580C>A (p.Arg194Ser) rs141721173 0.00100
NM_004625.4(WNT7A):c.213C>T (p.Asp71=) rs75651130 0.00100
NM_014780.5(CUL7):c.136C>T (p.Arg46Trp) rs141692693 0.00100
NM_030777.4(SLC2A10):c.515C>T (p.Thr172Ile) rs143301610 0.00100
NM_182914.3(SYNE2):c.3235A>G (p.Thr1079Ala) rs192128801 0.00100
NM_182961.4(SYNE1):c.13101C>T (p.Ile4367=) rs140136749 0.00100
NM_201253.3(CRB1):c.2103C>G (p.Pro701=) rs144436610 0.00100
NM_206933.4(USH2A):c.4796G>A (p.Gly1599Asp) rs148153079 0.00100
NM_001128840.3(CACNA1D):c.2467G>A (p.Val823Met) rs35090700 0.00099
NM_001377.3(DYNC2H1):c.3500A>G (p.His1167Arg) rs185613200 0.00099
NM_001849.4(COL6A2):c.2751G>T (p.Val917=) rs111341650 0.00099
NM_003737.4(DCHS1):c.8264G>A (p.Arg2755His) rs141243126 0.00099
NM_004393.6(DAG1):c.278T>C (p.Ile93Thr) rs149218670 0.00099
NM_022437.3(ABCG8):c.712G>A (p.Glu238Lys) rs34754243 0.00099
NM_025132.4(WDR19):c.2715G>A (p.Lys905=) rs200339331 0.00099
NM_139125.4(MASP1):c.1125C>T (p.His375=) rs34207306 0.00099
NM_182914.3(SYNE2):c.11479G>C (p.Val3827Leu) rs138514054 0.00099
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00098
NM_000057.4(BLM):c.3879A>G (p.Glu1293=) rs28377085 0.00098
NM_000059.4(BRCA2):c.175C>G (p.Pro59Ala) rs56091799 0.00098
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=) rs143011005 0.00098
NM_000260.4(MYO7A):c.803A>G (p.Lys268Arg) rs184866544 0.00098
NM_000426.4(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053 0.00098
NM_000463.3(UGT1A1):c.326T>C (p.Val109Ala) rs144217005 0.00098
NM_001080.3(ALDH5A1):c.1198G>A (p.Val400Ile) rs147358733 0.00098
NM_001849.4(COL6A2):c.115+6del rs578127995 0.00098
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln) rs144884147 0.00098
NM_002334.4(LRP4):c.3064A>G (p.Asn1022Asp) rs61742871 0.00098
NM_002335.4(LRP5):c.3990G>A (p.Ala1330=) rs147637431 0.00098
NM_003383.5(VLDLR):c.1901G>A (p.Arg634His) rs35339834 0.00098
NM_003742.4(ABCB11):c.1281C>T (p.Phe427=) rs11568360 0.00098
NM_004560.4(ROR2):c.1670C>T (p.Ser557Leu) rs56099091 0.00098
NM_005045.4(RELN):c.474-7T>C rs55693709 0.00098
NM_005045.4(RELN):c.5200C>G (p.Leu1734Val) rs362800 0.00098
NM_005045.4(RELN):c.6141C>T (p.Phe2047=) rs79161241 0.00098
NM_014780.5(CUL7):c.2115C>T (p.His705=) rs143128153 0.00098
NM_015102.5(NPHP4):c.2653A>C (p.Ser885Arg) rs112206586 0.00098
NM_015404.4(WHRN):c.1943C>A (p.Ser648Tyr) rs142653982 0.00098
NM_025114.4(CEP290):c.1716A>G (p.Leu572=) rs372349042 0.00098
NM_133642.5(LARGE1):c.1092C>T (p.Thr364=) rs144216539 0.00098
NM_173660.5(DOK7):c.331+9C>T rs370879328 0.00098
NM_182961.4(SYNE1):c.18204G>C (p.Leu6068Phe) rs138039375 0.00098
NM_194248.3(OTOF):c.2123G>A (p.Arg708Gln) rs145019640 0.00098
NM_000209.4(PDX1):c.543C>T (p.Val181=) rs75498935 0.00097
NM_000543.5(SMPD1):c.762G>A (p.Leu254=) rs143939609 0.00097
NM_001039348.3(EFEMP1):c.146A>C (p.Asp49Ala) rs55849640 0.00097
NM_001128228.3(TPRN):c.655C>A (p.Arg219Ser) rs559890679 0.00097
NM_001191061.2(SLC25A22):c.585C>T (p.Leu195=) rs147840220 0.00097
NM_001364905.1(LRBA):c.1713C>T (p.His571=) rs145812385 0.00097
NM_001875.5(CPS1):c.637G>A (p.Gly213Ser) rs138392504 0.00097
NM_002335.4(LRP5):c.4195G>A (p.Val1399Ile) rs113315676 0.00097
NM_002691.4(POLD1):c.3054G>A (p.Val1018=) rs369613619 0.00097
NM_003036.4(SKI):c.798C>T (p.Ala266=) rs149642284 0.00097
NM_006907.4(PYCR1):c.334C>T (p.Arg112Trp) rs147653673 0.00097
NM_014244.5(ADAMTS2):c.1122C>T (p.Ser374=) rs145109914 0.00097
NM_018136.5(ASPM):c.7670C>G (p.Ser2557Cys) rs78215018 0.00097
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val) rs146636139 0.00097
NM_198859.4(PRICKLE2):c.2191A>G (p.Ser731Gly) rs148689951 0.00097
NM_201384.3(PLEC):c.1969A>T (p.Ser657Cys) rs199843296 0.00097
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=) rs145145840 0.00096
NM_000452.3(SLC10A2):c.108G>A (p.Thr36=) rs141524545 0.00096
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_001083961.2(WDR62):c.2211-4G>A rs202109439 0.00096
NM_001164508.2(NEB):c.8719G>A (p.Gly2907Ser) rs201707021 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_001365536.1(SCN9A):c.3195C>T (p.Ser1065=) rs111674454 0.00096
NM_001457.4(FLNB):c.808A>G (p.Met270Val) rs145036794 0.00096
NM_001853.4(COL9A3):c.388G>A (p.Gly130Ser) rs139401633 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_015295.3(SMCHD1):c.5878+8T>G rs144115061 0.00096
NM_015909.4(NBAS):c.4228A>G (p.Thr1410Ala) rs143724414 0.00096
NM_022124.6(CDH23):c.2830A>G (p.Ser944Gly) rs188098974 0.00096
NM_022437.3(ABCG8):c.1924G>A (p.Ala642Thr) rs113005049 0.00096
NM_024649.5(BBS1):c.1181G>A (p.Gly394Asp) rs141528309 0.00096
NM_152564.5(VPS13B):c.9903G>A (p.Glu3301=) rs150573530 0.00096
NM_182961.4(SYNE1):c.6484A>T (p.Ser2162Cys) rs144435836 0.00096
NM_000027.4(AGA):c.762C>T (p.Ala254=) rs145465919 0.00095
NM_000180.4(GUCY2D):c.1236C>T (p.Asp412=) rs61749678 0.00095
NM_000260.4(MYO7A):c.*8C>T rs370206645 0.00095
NM_000306.4(POU1F1):c.252C>T (p.His84=) rs4988460 0.00095
NM_000883.4(IMPDH1):c.336C>T (p.Ala112=) rs547740249 0.00095
NM_001170629.2(CHD8):c.341C>T (p.Thr114Met) rs111250264 0.00095
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117 0.00095
NM_001318510.2(ACSL4):c.806+3A>G rs183171123 0.00095
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu) rs56355310 0.00095
NM_001966.4(EHHADH):c.983C>T (p.Ser328Leu) rs144464757 0.00095
NM_006019.4(TCIRG1):c.1209G>A (p.Met403Ile) rs140191063 0.00095
NM_018136.5(ASPM):c.5452C>T (p.Arg1818Cys) rs41299625 0.00095
NM_018965.4(TREM2):c.399G>T (p.Leu133=) rs144250872 0.00095
NM_031407.7(HUWE1):c.3663G>A (p.Ser1221=) rs142126065 0.00095
NM_031448.6(C19orf12):c.313G>A (p.Val105Met) rs146492790 0.00095
NM_138694.4(PKHD1):c.11002G>T (p.Asp3668Tyr) rs114237522 0.00095
NM_000452.3(SLC10A2):c.1038C>T (p.Asp346=) rs147498129 0.00094
NM_000452.3(SLC10A2):c.194C>T (p.Pro65Leu) rs112657170 0.00094
NM_001130987.2(DYSF):c.4021C>G (p.Gln1341Glu) rs147950418 0.00094
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His) rs138853909 0.00094
NM_004836.7(EIF2AK3):c.112G>A (p.Ala38Thr) rs886042833 0.00094
NM_015272.5(RPGRIP1L):c.1156A>G (p.Lys386Glu) rs137982921 0.00094
NM_016616.5(NME8):c.610A>G (p.Ile204Val) rs146777129 0.00094
NM_018668.5(VPS33B):c.1274G>A (p.Ser425Asn) rs139709507 0.00094
NM_020822.3(KCNT1):c.2142G>A (p.Leu714=) rs370580872 0.00094
NM_022437.3(ABCG8):c.1941C>G (p.Val647=) rs147991100 0.00094
NM_133259.4(LRPPRC):c.1301G>A (p.Gly434Asp) rs146515622 0.00094
NM_198129.4(LAMA3):c.8829G>A (p.Arg2943=) rs141472847 0.00094
NM_000016.6(ACADM):c.994C>T (p.Leu332=) rs138098371 0.00093
NM_000193.4(SHH):c.876G>A (p.Gly292=) rs112055654 0.00093
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00093
NM_000287.4(PEX6):c.1677C>A (p.Asp559Glu) rs61732159 0.00093
NM_000391.4(TPP1):c.542C>T (p.Ser181Phe) rs139059149 0.00093
NM_000719.7(CACNA1C):c.3049-10C>T rs186741807 0.00093
NM_001130987.2(DYSF):c.2982C>T (p.Asn994=) rs142404822 0.00093
NM_001165967.2(HES7):c.420G>A (p.Pro140=) rs200833034 0.00093
NM_001267550.2(TTN):c.48953T>C (p.Ile16318Thr) rs72677243 0.00093
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr) rs143999854 0.00093
NM_001360016.2(G6PD):c.1458-13C>G rs371772243 0.00093
NM_001848.3(COL6A1):c.170C>A (p.Ala57Asp) rs143502850 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_020779.4(WDR35):c.2678T>C (p.Leu893Ser) rs151047156 0.00093
NM_020812.4(DOCK6):c.5582G>A (p.Arg1861His) rs115035890 0.00093
NM_031433.4(MFRP):c.1014C>A (p.Ser338Arg) rs145319149 0.00093
NM_138694.4(PKHD1):c.1307C>G (p.Thr436Ser) rs146789444 0.00093
NM_194248.3(OTOF):c.1530C>T (p.Ile510=) rs150452778 0.00093
NM_198576.4(AGRN):c.2013C>T (p.Ser671=) rs141603403 0.00093
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686 0.00092
NM_000092.5(COL4A4):c.1776T>C (p.Ala592=) rs188655353 0.00092
NM_000093.5(COL5A1):c.4906G>A (p.Ala1636Thr) rs113452150 0.00092
NM_001267550.2(TTN):c.11672C>T (p.Thr3891Ile) rs148164929 0.00092
NM_001365536.1(SCN9A):c.1326G>A (p.Ala442=) rs200065104 0.00092
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser) rs138457939 0.00092
NM_003673.4(TCAP):c.353C>T (p.Ala118Val) rs143233087 0.00092
NM_003742.4(ABCB11):c.408C>T (p.Ser136=) rs183214630 0.00092
NM_004369.4(COL6A3):c.2292C>T (p.Asn764=) rs116066149 0.00092
NM_004560.4(ROR2):c.1736A>T (p.Asp579Val) rs150610444 0.00092
NM_004565.3(PEX14):c.267C>G (p.Val89=) rs146359055 0.00092
NM_005751.5(AKAP9):c.8286A>C (p.Lys2762Asn) rs144875383 0.00092
NM_012469.4(PRPF6):c.891C>T (p.Leu297=) rs41278234 0.00092
NM_014141.6(CNTNAP2):c.2609T>C (p.Val870Ala) rs138481453 0.00092
NM_014251.3(SLC25A13):c.1311+3A>G rs180844972 0.00092
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln) rs150797476 0.00092
NM_022081.6(HPS4):c.1543T>C (p.Cys515Arg) rs148134252 0.00092
NM_057176.3(BSND):c.527G>A (p.Arg176His) rs143711308 0.00092
NM_133642.5(LARGE1):c.1071T>C (p.Asn357=) rs146552975 0.00092
NM_181882.3(PRX):c.3110A>G (p.Glu1037Gly) rs148600818 0.00092
NM_198525.3(KIF7):c.3960T>A (p.Pro1320=) rs141028210 0.00092
NM_201548.5(CERKL):c.735G>C (p.Leu245=) rs140898616 0.00092
NM_206933.4(USH2A):c.15494C>G (p.Ala5165Gly) rs146892520 0.00092
NM_000310.4(PPT1):c.904A>G (p.Ile302Val) rs146902902 0.00091
NM_000426.4(LAMA2):c.1782+10C>T rs200030296 0.00091
NM_000553.6(WRN):c.107G>A (p.Arg36Gln) rs34084741 0.00091
NM_000709.4(BCKDHA):c.708C>T (p.Phe236=) rs146932786 0.00091
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe) rs200092211 0.00091
NM_001377.3(DYNC2H1):c.12643A>C (p.Ile4215Leu) rs142920070 0.00091
NM_001849.4(COL6A2):c.288C>T (p.Tyr96=) rs61735833 0.00091
NM_002617.4(PEX10):c.601-27A>G rs144264865 0.00091
NM_003384.3(VRK1):c.175T>G (p.Ser59Ala) rs61736727 0.00091
NM_004393.6(DAG1):c.2082C>T (p.Asn694=) rs146453412 0.00091
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240 0.00091
NM_004999.4(MYO6):c.3530G>A (p.Arg1177His) rs139664153 0.00091
NM_005045.4(RELN):c.1001G>A (p.Arg334His) rs146922726 0.00091
NM_005045.4(RELN):c.577+7G>T rs188372756 0.00091
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=) rs61754107 0.00091
NM_182914.3(SYNE2):c.16718G>A (p.Arg5573Gln) rs149227847 0.00091
NM_182914.3(SYNE2):c.20161G>A (p.Ala6721Thr) rs140897155 0.00091
NM_182961.4(SYNE1):c.6826-6A>G rs183683592 0.00091
NM_194248.3(OTOF):c.1630C>T (p.Arg544Cys) rs139954767 0.00091
NM_194248.3(OTOF):c.5394C>T (p.Asp1798=) rs111033366 0.00091
NM_201384.3(PLEC):c.6594C>T (p.Thr2198=) rs144242254 0.00091
NM_001374385.1(ATP8B1):c.1711G>A (p.Ala571Thr) rs35140429 0.00090
NM_001458.5(FLNC):c.5418G>A (p.Ser1806=) rs376078394 0.00090
NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys) rs148104494 0.00090
NM_003322.6(TULP1):c.366G>T (p.Glu122Asp) rs113772629 0.00090
NM_003630.3(PEX3):c.165A>G (p.Gln55=) rs41285015 0.00090
NM_006005.3(WFS1):c.683G>A (p.Arg228His) rs150771247 0.00090
NM_014363.6(SACS):c.9852A>G (p.Thr3284=) rs147506904 0.00090
NM_015192.4(PLCB1):c.1230G>A (p.Ser410=) rs148848282 0.00090
NM_020812.4(DOCK6):c.2594G>A (p.Arg865His) rs199922090 0.00090
NM_147127.5(EVC2):c.2244C>T (p.Thr748=) rs146588335 0.00090
NM_207361.6(FREM2):c.2367G>A (p.Pro789=) rs140101984 0.00090
NM_000052.7(ATP7A):c.1955G>A (p.Arg652Gln) rs143214563 0.00089
NM_000082.4(ERCC8):c.66G>A (p.Glu22=) rs149130938 0.00089
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030 0.00089
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys) rs1800548 0.00089
NM_000466.3(PEX1):c.3371A>G (p.Asn1124Ser) rs147870525 0.00089
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser) rs142063328 0.00089
NM_001174150.2(ARL13B):c.831C>A (p.Asn277Lys) rs139997243 0.00089
NM_001235.5(SERPINH1):c.92G>C (p.Gly31Ala) rs140588417 0.00089
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601 0.00089
NM_001395413.1(POR):c.678C>T (p.Ala226=) rs72557906 0.00089
NM_003119.4(SPG7):c.1083G>A (p.Ala361=) rs114135540 0.00089
NM_006907.4(PYCR1):c.465C>T (p.Ser155=) rs149683289 0.00089
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=) rs149260051 0.00089
NM_201384.3(PLEC):c.3731T>G (p.Val1244Gly) rs187648086 0.00089
NM_000260.4(MYO7A):c.39C>A (p.Asp13Glu) rs199989979 0.00088
NM_000748.3(CHRNB2):c.1485C>T (p.Asp495=) rs144813907 0.00088
NM_001008388.5(CISD2):c.12G>A (p.Glu4=) rs145312923 0.00088
NM_001077365.2(POMT1):c.1986C>T (p.Ile662=) rs140553130 0.00088
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg) rs121908242 0.00088
NM_001128178.3(NPHP1):c.953C>T (p.Thr318Ile) rs140469160 0.00088
NM_001292063.2(OTOG):c.2868-3C>T rs565665118 0.00088
NM_001365536.1(SCN9A):c.2766C>T (p.Arg922=) rs199653503 0.00088
NM_001369268.1(ACAN):c.7092G>A (p.Lys2364=) rs368979713 0.00088
NM_001369268.1(ACAN):c.7189G>A (p.Val2397Ile) rs150555123 0.00088
NM_001374353.1(GLI2):c.2939C>G (p.Pro980Arg) rs563818052 0.00088
NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg) rs141911199 0.00088
NM_001853.4(COL9A3):c.110C>T (p.Pro37Leu) rs373605761 0.00088
NM_004530.6(MMP2):c.1233G>A (p.Leu411=) rs140172728 0.00088
NM_005413.4(SIX3):c.369G>A (p.Glu123=) rs200331042 0.00088
NM_006019.4(TCIRG1):c.197-5C>T rs183885218 0.00088
NM_006031.6(PCNT):c.2033A>G (p.Lys678Arg) rs149623054 0.00088
NM_006929.5(SKIC2):c.3470C>T (p.Thr1157Met) rs201764098 0.00088
NM_012463.4(ATP6V0A2):c.2229T>C (p.Cys743=) rs150508296 0.00088
NM_014363.6(SACS):c.3074A>T (p.Asn1025Ile) rs150981983 0.00088
NM_016239.4(MYO15A):c.2418C>T (p.Phe806=) rs564053026 0.00088
NM_020066.5(FMN2):c.2572C>A (p.Pro858Thr) rs140315493 0.00088
NM_020822.3(KCNT1):c.2034C>T (p.Gly678=) rs369983077 0.00088
NM_022437.3(ABCG8):c.1093A>G (p.Thr365Ala) rs114404835 0.00088
NM_022455.5(NSD1):c.3150C>T (p.Thr1050=) rs144257298 0.00088
NM_025243.4(SLC19A3):c.1056C>G (p.Phe352Leu) rs149806390 0.00088
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val) rs41308297 0.00088
NM_033028.5(BBS4):c.1049A>G (p.Asn350Ser) rs150395094 0.00088
NM_033337.3(CAV3):c.40G>A (p.Val14Ile) rs121909281 0.00088
NM_138694.4(PKHD1):c.3834C>T (p.Phe1278=) rs145960781 0.00088
NM_153603.4(COG7):c.850A>T (p.Ile284Phe) rs115605801 0.00088
NM_170707.4(LMNA):c.640-52C>T rs41314033 0.00088
NM_201525.4(ADGRG1):c.243C>T (p.Phe81=) rs58068378 0.00088
NM_000208.4(INSR):c.959C>T (p.Thr320Met) rs138528064 0.00087
NM_000256.3(MYBPC3):c.2870C>G (p.Thr957Ser) rs193922380 0.00087
NM_000520.6(HEXA):c.1527-6T>C rs199914308 0.00087
NM_001128225.3(SLC39A13):c.646-7T>C rs140597965 0.00087
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln) rs72650034 0.00087
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser) rs141213991 0.00087
NM_001292063.2(OTOG):c.4835G>A (p.Arg1612His) rs189248390 0.00087
NM_001379180.1(ESRRB):c.*1546C>T rs201448899 0.00087
NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487 0.00087
NM_001849.4(COL6A2):c.568G>A (p.Val190Met) rs150877061 0.00087
NM_014425.5(INVS):c.1945G>A (p.Val649Met) rs115042730 0.00087
NM_014874.4(MFN2):c.1641C>T (p.Leu547=) rs140924661 0.00087
NM_015102.5(NPHP4):c.2940G>A (p.Thr980=) rs146948888 0.00087
NM_022124.6(CDH23):c.4488+7C>T rs374215303 0.00087
NM_032119.4(ADGRV1):c.9447+6G>A rs201481219 0.00087
NM_178857.6(RP1L1):c.652G>T (p.Val218Leu) rs77679870 0.00087
NM_182961.4(SYNE1):c.22554G>A (p.Gly7518=) rs148240825 0.00087
NM_000035.4(ALDOB):c.543T>G (p.Asn181Lys) rs35885472 0.00086
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00086
NM_000352.6(ABCC8):c.1874C>T (p.Ala625Val) rs148709148 0.00086
NM_000388.4(CASR):c.1631G>A (p.Arg544Gln) rs115230894 0.00086
NM_000426.4(LAMA2):c.6697G>A (p.Val2233Ile) rs150945378 0.00086
NM_000492.4(CFTR):c.4243-20A>G rs138025486 0.00086
NM_000875.5(IGF1R):c.1956T>G (p.Pro652=) rs45598332 0.00086
NM_001003722.2(GLE1):c.823G>A (p.Asp275Asn) rs146800850 0.00086
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met) rs201437752 0.00086
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00086
NM_001374353.1(GLI2):c.607G>A (p.Ala203Thr) rs147044066 0.00086
NM_001854.4(COL11A1):c.965C>T (p.Pro322Leu) rs183130583 0.00086
NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser) rs151234321 0.00086
NM_002335.4(LRP5):c.263A>G (p.Lys88Arg) rs78219242 0.00086
NM_002546.4(TNFRSF11B):c.234C>T (p.Asp78=) rs144654126 0.00086
NM_004560.4(ROR2):c.2461G>A (p.Val821Ile) rs149056068 0.00086
NM_006208.3(ENPP1):c.2624C>T (p.Ser875Phe) rs140729669 0.00086
NM_006514.4(SCN10A):c.3859G>A (p.Val1287Ile) rs145032037 0.00086
NM_014141.6(CNTNAP2):c.2369G>A (p.Arg790His) rs73464271 0.00086
NM_014918.5(CHSY1):c.21C>T (p.Arg7=) rs751409111 0.00086
NM_024301.5(FKRP):c.1154C>T (p.Ser385Leu) rs104894680 0.00086
NM_024577.4(SH3TC2):c.689T>C (p.Val230Ala) rs148634904 0.00086
NM_024596.5(MCPH1):c.2180C>T (p.Pro727Leu) rs199861426 0.00086
NM_031885.5(BBS2):c.1380C>T (p.Phe460=) rs141046144 0.00086
NM_032119.4(ADGRV1):c.16285G>A (p.Glu5429Lys) rs183851734 0.00086
NM_032119.4(ADGRV1):c.3509A>G (p.Tyr1170Cys) rs188772875 0.00086
NM_182961.4(SYNE1):c.9530A>G (p.Asp3177Gly) rs149005052 0.00086
NM_201384.3(PLEC):c.2775C>T (p.Ala925=) rs201202488 0.00086
NM_000026.4(ADSL):c.895A>G (p.Met299Val) rs34396910 0.00085
NM_000151.4(G6PC1):c.562+10G>A rs199505156 0.00085
NM_000208.4(INSR):c.2970G>A (p.Pro990=) rs41304772 0.00085
NM_000426.4(LAMA2):c.9211+6T>C rs201375881 0.00085
NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=) rs143782439 0.00085
NM_001048166.1(STIL):c.2906A>G (p.His969Arg) rs148193936 0.00085
NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile) rs150887098 0.00085
NM_001853.4(COL9A3):c.1242C>T (p.Pro414=) rs150153886 0.00085
NM_001927.4(DES):c.935A>C (p.Asp312Ala) rs148947510 0.00085
NM_003742.4(ABCB11):c.174C>T (p.Asp58=) rs11568362 0.00085
NM_015272.5(RPGRIP1L):c.2240G>A (p.Arg747Gln) rs142349647 0.00085
NM_018249.6(CDK5RAP2):c.1218G>A (p.Gln406=) rs61758368 0.00085
NM_024577.4(SH3TC2):c.1298C>T (p.Ser433Leu) rs200967041 0.00085
NM_147127.5(EVC2):c.92T>C (p.Leu31Pro) rs557830930 0.00085
NM_000124.4(ERCC6):c.3650T>G (p.Phe1217Cys) rs61760166 0.00084
NM_000208.4(INSR):c.190T>C (p.Leu64=) rs144836032 0.00084
NM_000283.4(PDE6B):c.794G>A (p.Arg265Gln) rs144562730 0.00084
NM_000293.3(PHKB):c.2075A>G (p.Lys692Arg) rs142381554 0.00084
NM_000326.5(RLBP1):c.545T>G (p.Phe182Cys) rs142244640 0.00084
NM_000466.3(PEX1):c.2926+8T>C rs369877998 0.00084
NM_000548.5(TSC2):c.1860G>A (p.Leu620=) rs45492397 0.00084
NM_001031679.3(MSRB3):c.76+7G>T rs199896714 0.00084
NM_001083961.2(WDR62):c.2381C>G (p.Pro794Arg) rs149431376 0.00084
NM_001127649.3(PEX26):c.497G>A (p.Arg166Gln) rs34194489 0.00084
NM_001193315.2(VIPAS39):c.1460C>T (p.Ser487Leu) rs140365206 0.00084
NM_001193315.2(VIPAS39):c.972C>T (p.Arg324=) rs147303718 0.00084
NM_001200.4(BMP2):c.561C>T (p.Pro187=) rs149465465 0.00084
NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys) rs149763294 0.00084
NM_001291303.3(FAT4):c.7231A>T (p.Thr2411Ser) rs147297895 0.00084
NM_001379081.2(FREM1):c.5622G>C (p.Trp1874Cys) rs61745612 0.00084
NM_001379286.1(ZNF423):c.819C>T (p.Cys273=) rs201499268 0.00084
NM_003839.4(TNFRSF11A):c.1254T>G (p.Ser418=) rs34966542 0.00084
NM_005477.3(HCN4):c.3010C>T (p.Pro1004Ser) rs201418838 0.00084
NM_005670.4(EPM2A):c.680C>T (p.Ala227Val) rs147399860 0.00084
NM_012414.4(RAB3GAP2):c.3842A>G (p.Tyr1281Cys) rs34081806 0.00084
NM_014324.6(AMACR):c.554T>C (p.Val185Ala) rs145786819 0.00084
NM_020366.4(RPGRIP1):c.808A>G (p.Ile270Val) rs372615343 0.00084
NM_022726.4(ELOVL4):c.931G>A (p.Ala311Thr) rs189898207 0.00084
NM_054012.4(ASS1):c.1134C>T (p.Asn378=) rs140715869 0.00084
NM_201384.3(PLEC):c.10656G>A (p.Val3552=) rs368312695 0.00084
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser) rs140080678 0.00084
NM_207361.6(FREM2):c.1580C>T (p.Ser527Leu) rs139804851 0.00084
NM_000784.4(CYP27A1):c.703G>A (p.Glu235Lys) rs149897566 0.00083
NM_001145809.2(MYH14):c.615G>A (p.Thr205=) rs199921330 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_001298.3(CNGA3):c.284C>T (p.Pro95Leu) rs114108462 0.00083
NM_001330078.2(NRXN1):c.2772C>T (p.Tyr924=) rs200182626 0.00083
NM_001966.4(EHHADH):c.1804C>T (p.Arg602Trp) rs148208284 0.00083
NM_001966.4(EHHADH):c.2094A>G (p.Leu698=) rs370130327 0.00083
NM_002878.4(RAD51D):c.919G>A (p.Glu307Lys) rs115031549 0.00083
NM_004565.3(PEX14):c.602A>G (p.Asn201Ser) rs142285791 0.00083
NM_005529.7(HSPG2):c.8941G>A (p.Val2981Ile) rs2229490 0.00083
NM_006005.3(WFS1):c.2195G>A (p.Arg732His) rs149013740 0.00083
NM_006086.4(TUBB3):c.921C>T (p.His307=) rs147283850 0.00083
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638 0.00083
NM_018941.4(CLN8):c.374A>G (p.Asn125Ser) rs142269885 0.00083
NM_019066.5(MAGEL2):c.2281G>C (p.Ala761Pro) rs146970674 0.00083
NM_019066.5(MAGEL2):c.3690G>C (p.Glu1230Asp) rs34875116 0.00083
NM_021939.4(FKBP10):c.174A>G (p.Glu58=) rs150052125 0.00083
NM_031471.6(FERMT3):c.1188G>A (p.Gln396=) rs148021416 0.00083
NM_032119.4(ADGRV1):c.1855T>G (p.Leu619Val) rs202064612 0.00083
NM_205850.3(SLC24A5):c.347C>G (p.Ala116Gly) rs150379789 0.00083
NM_000052.7(ATP7A):c.4006A>G (p.Asn1336Asp) rs146651049 0.00082
NM_000092.5(COL4A4):c.195T>C (p.Gly65=) rs201278620 0.00082
NM_000326.5(RLBP1):c.303C>T (p.Arg101=) rs144254383 0.00082
NM_000426.4(LAMA2):c.7440-9G>A rs369558532 0.00082
NM_000452.3(SLC10A2):c.425C>T (p.Pro142Leu) rs117447044 0.00082
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro) rs116349687 0.00082
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=) rs45486193 0.00082
NM_001039.4(SCNN1G):c.1575G>A (p.Glu525=) rs72647541 0.00082
NM_001130987.2(DYSF):c.2335G>A (p.Gly779Ser) rs138654170 0.00082
NM_001256789.3(CACNA1F):c.2764G>A (p.Gly922Ser) rs149685267 0.00082
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val) rs56173891 0.00082
NM_001267550.2(TTN):c.23302G>A (p.Asp7768Asn) rs72648973 0.00082
NM_001267550.2(TTN):c.26494A>G (p.Ile8832Val) rs72648989 0.00082
NM_001267550.2(TTN):c.89426G>A (p.Arg29809Gln) rs72648238 0.00082
NM_004369.4(COL6A3):c.8636C>T (p.Thr2879Met) rs150907698 0.00082
NM_004484.4(GPC3):c.826G>A (p.Gly276Ser) rs141100113 0.00082
NM_004836.7(EIF2AK3):c.3153C>T (p.Tyr1051=) rs56120877 0.00082
NM_005802.5(TOPORS):c.2547A>G (p.Ser849=) rs150650712 0.00082
NM_012448.4(STAT5B):c.429G>C (p.Gln143His) rs148793995 0.00082
NM_016239.4(MYO15A):c.5060C>T (p.Pro1687Leu) rs58625281 0.00082
NM_020451.3(SELENON):c.1596C>T (p.Gly532=) rs149623434 0.00082
NM_021101.5(CLDN1):c.195A>G (p.Lys65=) rs145197251 0.00082
NM_182914.3(SYNE2):c.12673C>T (p.Pro4225Ser) rs149296737 0.00082
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_000126.4(ETFA):c.6C>T (p.Phe2=) rs749929239 0.00081
NM_000193.4(SHH):c.1181G>A (p.Arg394His) rs551809680 0.00081
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463 0.00081
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=) rs111606207 0.00081
NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile) rs183245562 0.00081
NM_001365536.1(SCN9A):c.3403C>T (p.Pro1135Ser) rs184563685 0.00081
NM_001367721.1(CASK):c.2317+9T>C rs5964007 0.00081
NM_001384140.1(PCDH15):c.1205G>C (p.Gly402Ala) rs145017164 0.00081
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090 0.00081
NM_004447.6(EPS8):c.1330T>C (p.Phe444Leu) rs139258361 0.00081
NM_004568.6(SERPINB6):c.100A>G (p.Met34Val) rs145538358 0.00081
NM_005609.4(PYGM):c.848A>G (p.Asn283Ser) rs114468011 0.00081
NM_006946.4(SPTBN2):c.157+5G>A rs150159444 0.00081
NM_012210.4(TRIM32):c.6T>G (p.Ala2=) rs141352486 0.00081
NM_012301.4(MAGI2):c.2454C>T (p.Arg818=) rs148580718 0.00081
NM_015102.5(NPHP4):c.1867A>G (p.Thr623Ala) rs35959882 0.00081
NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala) rs145758265 0.00081
NM_170699.3(GPBAR1):c.189C>T (p.Leu63=) rs111925653 0.00081
NM_198428.3(BBS9):c.2105C>A (p.Thr702Asn) rs149362446 0.00081
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly) rs41302239 0.00081
NM_000404.4(GLB1):c.1426C>T (p.Leu476=) rs113534264 0.00080
NM_000426.4(LAMA2):c.8282T>C (p.Ile2761Thr) rs115650537 0.00080
NM_001267550.2(TTN):c.31807G>A (p.Val10603Ile) rs139790668 0.00080
NM_001277115.2(DNAH11):c.7325A>G (p.Lys2442Arg) rs114286628 0.00080
NM_001378615.1(CC2D2A):c.1017+7G>A rs137919504 0.00080
NM_001384140.1(PCDH15):c.949T>A (p.Ser317Thr) rs140736502 0.00080
NM_001848.3(COL6A1):c.996C>T (p.Gly332=) rs11702055 0.00080
NM_003049.4(SLC10A1):c.702T>G (p.Phe234Leu) rs139931299 0.00080
NM_004565.3(PEX14):c.29C>G (p.Pro10Arg) rs12068754 0.00080
NM_012418.4(FSCN2):c.492C>T (p.Asp164=) rs370382419 0.00080
NM_016239.4(MYO15A):c.9181G>A (p.Glu3061Lys) rs116833707 0.00080
NM_032119.4(ADGRV1):c.17758C>A (p.Leu5920Ile) rs202110635 0.00080
NM_032119.4(ADGRV1):c.5221T>C (p.Leu1741=) rs371831553 0.00080
NM_032119.4(ADGRV1):c.9083A>G (p.Asn3028Ser) rs150549897 0.00080
NM_052989.3(IFT122):c.1026C>T (p.Asp342=) rs79187669 0.00080
NM_153676.4(USH1C):c.2443C>T (p.Leu815=) rs148477093 0.00080
NM_173477.5(USH1G):c.1258C>G (p.Leu420Val) rs139897506 0.00080
NM_178452.6(DNAAF1):c.546C>G (p.Asn182Lys) rs144018942 0.00080
NM_182961.4(SYNE1):c.11430G>A (p.Thr3810=) rs137919524 0.00080
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248 0.00080
NM_201384.3(PLEC):c.2478C>T (p.Asp826=) rs202135215 0.00080
NM_206933.4(USH2A):c.8559-7G>A rs199618999 0.00080
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser) rs149636614 0.00079
NM_000124.4(ERCC6):c.3719G>T (p.Ser1240Ile) rs142219494 0.00079
NM_000540.3(RYR1):c.10119G>A (p.Val3373=) rs140689610 0.00079
NM_001004334.4(GPR179):c.5982C>T (p.Ala1994=) rs185715311 0.00079
NM_001039141.3(TRIOBP):c.3309C>T (p.His1103=) rs199594270 0.00079
NM_001123385.2(BCOR):c.2514C>A (p.Pro838=) rs147497014 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_001277115.2(DNAH11):c.12632C>T (p.Pro4211Leu) rs142585703 0.00079
NM_001377.3(DYNC2H1):c.11905G>A (p.Val3969Ile) rs189100009 0.00079
NM_001378615.1(CC2D2A):c.1956G>A (p.Pro652=) rs375131519 0.00079
NM_001458.5(FLNC):c.1600G>A (p.Glu534Lys) rs201905890 0.00079
NM_001851.6(COL9A1):c.2585A>C (p.Asp862Ala) rs202176764 0.00079
NM_003036.4(SKI):c.216C>T (p.Pro72=) rs756778048 0.00079
NM_012254.3(SLC27A5):c.934G>A (p.Val312Ile) rs146682651 0.00079
NM_016239.4(MYO15A):c.1454T>C (p.Val485Ala) rs200532919 0.00079
NM_017777.4(MKS1):c.27C>T (p.Asp9=) rs369488349 0.00079
NM_023110.3(FGFR1):c.1098G>A (p.Pro366=) rs56174879 0.00079
NM_025132.4(WDR19):c.2364-3del rs757992911 0.00079
NM_173630.4(RTTN):c.2536G>A (p.Val846Ile) rs113536228 0.00079
NM_207361.6(FREM2):c.177T>C (p.Gly59=) rs370018440 0.00079
NM_000053.4(ATP7B):c.3405A>G (p.Ala1135=) rs373081328 0.00078
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429 0.00078
NM_000159.4(GCDH):c.471C>T (p.Ser157=) rs146682905 0.00078
NM_000163.5(GHR):c.686G>A (p.Arg229His) rs6177 0.00078
NM_000350.3(ABCA4):c.1932C>T (p.Asp644=) rs117400594 0.00078
NM_001164508.2(NEB):c.10434T>C (p.Asn3478=) rs375543045 0.00078
NM_001849.4(COL6A2):c.2170C>T (p.Arg724Cys) rs150098077 0.00078
NM_002857.4(PEX19):c.564G>A (p.Leu188=) rs149058086 0.00078
NM_005529.7(HSPG2):c.5648C>T (p.Ala1883Val) rs140954748 0.00078
NM_015102.5(NPHP4):c.2820G>A (p.Ala940=) rs35575973 0.00078
NM_015139.3(SLC35D1):c.814G>A (p.Ala272Thr) rs143218310 0.00078
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_170699.3(GPBAR1):c.701G>T (p.Gly234Val) rs201017530 0.00078
NM_000392.5(ABCC2):c.4495A>G (p.Met1499Val) rs149200446 0.00077
NM_001083961.2(WDR62):c.1228G>T (p.Val410Leu) rs139460397 0.00077
NM_001148.6(ANK2):c.11538C>T (p.Leu3846=) rs45602336 0.00077
NM_001164508.2(NEB):c.1258-7C>G rs371265681 0.00077
NM_001384910.1(GUCA1A):c.152C>T (p.Ser51Leu) rs137931613 0.00077
NM_001844.5(COL2A1):c.1068G>A (p.Pro356=) rs147202936 0.00077
NM_001851.6(COL9A1):c.2240C>G (p.Pro747Arg) rs149459564 0.00077
NM_001927.4(DES):c.170C>T (p.Ser57Leu) rs372825868 0.00077
NM_005670.4(EPM2A):c.24G>A (p.Val8=) rs587780938 0.00077
NM_005876.5(SPEG):c.6694C>A (p.Pro2232Thr) rs371302780 0.00077
NM_012188.5(FOXI1):c.442C>G (p.Gln148Glu) rs553561553 0.00077
NM_014956.5(CEP164):c.1438C>T (p.Arg480Trp) rs112209873 0.00077
NM_022455.5(NSD1):c.3393C>T (p.Asn1131=) rs150296373 0.00077
NM_080680.3(COL11A2):c.4652G>A (p.Arg1551Gln) rs145343609 0.00077
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr) rs140095832 0.00077
NM_173630.4(RTTN):c.1221A>G (p.Glu407=) rs112327299 0.00077
NM_201384.3(PLEC):c.7121G>A (p.Arg2374Gln) rs201417343 0.00077
NM_000193.4(SHH):c.1078C>T (p.Leu360=) rs191903572 0.00076
NM_000284.4(PDHA1):c.507G>A (p.Ala169=) rs141862527 0.00076
NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=) rs372702466 0.00076
NM_000744.7(CHRNA4):c.1108C>T (p.Arg370Trp) rs76378652 0.00076
NM_001003722.2(GLE1):c.5C>G (p.Pro2Arg) rs150246404 0.00076
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His) rs186476316 0.00076
NM_001267550.2(TTN):c.58226G>A (p.Arg19409His) rs201505306 0.00076
NM_001267550.2(TTN):c.83299C>A (p.Pro27767Thr) rs184643087 0.00076
NM_001353214.3(DYM):c.946+7G>A rs150849326 0.00076
NM_001365536.1(SCN9A):c.688+9T>C rs188814235 0.00076
NM_001377.3(DYNC2H1):c.5798A>G (p.Glu1933Gly) rs201829296 0.00076
NM_001378454.1(ALMS1):c.4344A>G (p.Leu1448=) rs200459890 0.00076
NM_001378477.3(NYX):c.567C>A (p.Ile189=) rs746383908 0.00076
NM_001848.3(COL6A1):c.2968A>C (p.Lys990Gln) rs141663473 0.00076
NM_002180.3(IGHMBP2):c.1060+8G>T rs201147313 0.00076
NM_002473.6(MYH9):c.3192C>T (p.Ile1064=) rs144807538 0.00076
NM_003193.5(TBCE):c.253A>G (p.Ile85Val) rs143886167 0.00076
NM_004369.4(COL6A3):c.6138C>T (p.Ile2046=) rs115401779 0.00076
NM_004667.6(HERC2):c.2747-3C>A rs200632307 0.00076
NM_005045.4(RELN):c.3913-9T>C rs372473867 0.00076
NM_005199.5(CHRNG):c.1100T>C (p.Val367Ala) rs74691009 0.00076
NM_006005.3(WFS1):c.1152C>T (p.Phe384=) rs149846741 0.00076
NM_012452.3(TNFRSF13B):c.605G>A (p.Arg202His) rs104894649 0.00076
NM_014425.5(INVS):c.1925A>G (p.Lys642Arg) rs116314059 0.00076
NM_015102.5(NPHP4):c.3843G>T (p.Leu1281=) rs9662691 0.00076
NM_016239.4(MYO15A):c.269T>C (p.Met90Thr) rs373294263 0.00076
NM_024915.4(GRHL2):c.804C>T (p.Thr268=) rs55682875 0.00076
NM_032119.4(ADGRV1):c.1033C>A (p.Gln345Lys) rs201236317 0.00076
NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser) rs60662302 0.00076
NM_182961.4(SYNE1):c.24881A>G (p.Asp8294Gly) rs138407813 0.00076
NM_206933.4(USH2A):c.14664G>A (p.Thr4888=) rs111033525 0.00076
NM_207361.6(FREM2):c.2823C>T (p.Pro941=) rs150154438 0.00076
NM_000023.4(SGCA):c.366G>A (p.Leu122=) rs147739328 0.00075
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863 0.00075
NM_000288.4(PEX7):c.339+10A>G rs374668045 0.00075
NM_000500.9(CYP21A2):c.1306C>T (p.Arg436Cys) rs767333157 0.00075
NM_001083961.2(WDR62):c.3303G>A (p.Thr1101=) rs117887683 0.00075
NM_001105206.3(LAMA4):c.4678C>A (p.Arg1560=) rs150069819 0.00075
NM_001267550.2(TTN):c.44077C>T (p.Arg14693Cys) rs200445568 0.00075
NM_001267550.2(TTN):c.95242C>T (p.Arg31748Cys) rs142525903 0.00075
NM_001384474.1(LOXHD1):c.3941C>T (p.Thr1314Ile) rs182125538 0.00075
NM_001848.3(COL6A1):c.350T>C (p.Val117Ala) rs138899581 0.00075
NM_002206.3(ITGA7):c.2293A>G (p.Ile765Val) rs148641361 0.00075
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543 0.00075
NM_005199.5(CHRNG):c.775G>A (p.Ala259Thr) rs138125827 0.00075
NM_006946.4(SPTBN2):c.1456G>A (p.Ala486Thr) rs143155918 0.00075
NM_014251.3(SLC25A13):c.1910T>C (p.Val637Ala) rs148962110 0.00075
NM_020822.3(KCNT1):c.942C>T (p.Thr314=) rs144766991 0.00075
NM_080916.3(DGUOK):c.630G>A (p.Glu210=) rs115206553 0.00075
NM_138694.4(PKHD1):c.7912-5T>G rs371510537 0.00075
NM_153717.3(EVC):c.1770C>T (p.Asp590=) rs141755737 0.00075
NM_000091.5(COL4A3):c.4295G>A (p.Arg1432His) rs200509072 0.00074
NM_000126.4(ETFA):c.533C>G (p.Thr178Arg) rs140169311 0.00074
NM_001017420.3(ESCO2):c.1013+7A>G rs149494070 0.00074
NM_001079802.2(FKTN):c.681G>A (p.Leu227=) rs142604625 0.00074
NM_001148.6(ANK2):c.11231C>A (p.Thr3744Asn) rs121912705 0.00074
NM_001165963.4(SCN1A):c.5951C>A (p.Pro1984His) rs146733308 0.00074
NM_001267550.2(TTN):c.53055G>A (p.Met17685Ile) rs200387466 0.00074
NM_001277313.2(FMN1):c.3974A>G (p.Gln1325Arg) rs147769257 0.00074
NM_001330078.2(NRXN1):c.569A>G (p.Asn190Ser) rs200792504 0.00074
NM_001384732.1(CPLANE1):c.2132C>T (p.Ser711Leu) rs116237993 0.00074
NM_001848.3(COL6A1):c.1584G>A (p.Pro528=) rs139243418 0.00074
NM_001848.3(COL6A1):c.381C>T (p.Thr127=) rs75180385 0.00074
NM_001927.4(DES):c.785A>T (p.Glu262Val) rs147327878 0.00074
NM_002206.3(ITGA7):c.1606C>T (p.Leu536Phe) rs149028067 0.00074
NM_005045.4(RELN):c.4182A>G (p.Ser1394=) rs147496823 0.00074
NM_006946.4(SPTBN2):c.1657C>T (p.Arg553Trp) rs116099040 0.00074
NM_013296.5(GPSM2):c.1486T>A (p.Leu496Ile) rs61758992 0.00074
NM_014425.5(INVS):c.2311G>A (p.Asp771Asn) rs115754570 0.00074
NM_017433.5(MYO3A):c.3538G>A (p.Glu1180Lys) rs184043065 0.00074
NM_022369.4(STRA6):c.357C>T (p.Pro119=) rs139775570 0.00074
NM_022437.3(ABCG8):c.1411+8T>A rs201991639 0.00074
NM_022458.4(LMBR1):c.843G>A (p.Arg281=) rs140806590 0.00074
NM_024408.4(NOTCH2):c.5074A>G (p.Ile1692Val) rs143134864 0.00074
NM_032119.4(ADGRV1):c.10563T>C (p.Leu3521=) rs200946170 0.00074
NM_201548.5(CERKL):c.1523C>T (p.Ser508Leu) rs146913105 0.00074
NM_000142.5(FGFR3):c.1923C>T (p.Asp641=) rs148104605 0.00073
NM_000238.4(KCNH2):c.51C>G (p.Thr17=) rs144338227 0.00073
NM_000260.4(MYO7A):c.2886G>C (p.Gln962His) rs200641606 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_001277313.2(FMN1):c.2044-1493G>T rs201555719 0.00073
NM_001367624.2(ZNF469):c.1483C>T (p.Pro495Ser) rs202205643 0.00073
NM_001379270.1(CNGA1):c.360C>T (p.Asn120=) rs147591591 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_005957.5(MTHFR):c.1625A>C (p.Asn542Thr) rs145641996 0.00073
NM_006516.4(SLC2A1):c.894C>T (p.Phe298=) rs140825318 0.00073
NM_018668.5(VPS33B):c.1714T>G (p.Phe572Val) rs145092724 0.00073
NM_022124.6(CDH23):c.1301A>G (p.Asn434Ser) rs139287714 0.00073
NM_025114.4(CEP290):c.2487A>G (p.Glu829=) rs371159780 0.00073
NM_025114.4(CEP290):c.341G>A (p.Arg114His) rs150296134 0.00073
NM_138691.3(TMC1):c.924C>G (p.Asp308Glu) rs113342704 0.00073
NM_145200.5(CABP4):c.547G>C (p.Gly183Arg) rs146764702 0.00073
NM_182961.4(SYNE1):c.21995A>C (p.His7332Pro) rs151247098 0.00073
NM_201384.3(PLEC):c.12190G>A (p.Glu4064Lys) rs200206105 0.00073
NM_201384.3(PLEC):c.4351G>A (p.Glu1451Lys) rs868906137 0.00073
NM_000051.4(ATM):c.334G>A (p.Ala112Thr) rs146382972 0.00072
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00072
NM_000257.4(MYH7):c.2769C>T (p.Asn923=) rs36211716 0.00072
NM_000550.3(TYRP1):c.785C>T (p.Thr262Met) rs61752939 0.00072
NM_001029883.3(PCARE):c.667C>G (p.Leu223Val) rs372323929 0.00072
NM_001097577.3(ANG):c.208A>G (p.Ile70Val) rs121909541 0.00072
NM_001130987.2(DYSF):c.4859G>A (p.Arg1620His) rs185596534 0.00072
NM_001130987.2(DYSF):c.6174-9C>T rs201070766 0.00072
NM_001142800.2(EYS):c.1660T>A (p.Cys554Ser) rs145102275 0.00072
NM_001177316.2(SLC34A3):c.1484G>C (p.Gly495Ala) rs140869490 0.00072
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile) rs201717871 0.00072
NM_001457.4(FLNB):c.3288C>T (p.Ser1096=) rs77934864 0.00072
NM_001458.5(FLNC):c.4022G>A (p.Arg1341Gln) rs149641783 0.00072
NM_004369.4(COL6A3):c.7849G>A (p.Asp2617Asn) rs138285547 0.00072
NM_004385.5(VCAN):c.6767T>C (p.Leu2256Pro) rs146630369 0.00072
NM_005045.4(RELN):c.1035A>G (p.Leu345=) rs113998363 0.00072
NM_005529.7(HSPG2):c.7235G>A (p.Ser2412Asn) rs146309392 0.00072
NM_006031.6(PCNT):c.4675A>T (p.Met1559Leu) rs180775012 0.00072
NM_006269.2(RP1):c.228C>T (p.Leu76=) rs142600056 0.00072
NM_006767.4(LZTR1):c.1990G>A (p.Ala664Thr) rs140874089 0.00072
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=) rs149185385 0.00072
NM_022081.6(HPS4):c.*5C>T rs373741660 0.00072
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279 0.00072
NM_032119.4(ADGRV1):c.12212G>A (p.Arg4071Gln) rs202190568 0.00072
NM_000098.3(CPT2):c.1634A>C (p.Glu545Ala) rs17848485 0.00071
NM_000350.3(ABCA4):c.4342G>A (p.Gly1448Arg) rs142506651 0.00071
NM_001035.3(RYR2):c.14484G>T (p.Gly4828=) rs370996795 0.00071
NM_001089.3(ABCA3):c.2675G>A (p.Arg892His) rs142687030 0.00071
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=) rs200048692 0.00071
NM_001130987.2(DYSF):c.2034G>A (p.Val678=) rs138111360 0.00071
NM_001267550.2(TTN):c.106580A>T (p.Glu35527Val) rs55725279 0.00071
NM_001292063.2(OTOG):c.2657C>T (p.Thr886Met) rs113688475 0.00071
NM_001374385.1(ATP8B1):c.1892G>A (p.Arg631Gln) rs150499790 0.00071
NM_001374385.1(ATP8B1):c.3725C>G (p.Thr1242Ser) rs139012426 0.00071
NM_002693.3(POLG):c.578G>A (p.Arg193Gln) rs3176162 0.00071
NM_003742.4(ABCB11):c.3512T>C (p.Met1171Thr) rs183621659 0.00071
NM_007254.4(PNKP):c.501G>A (p.Val167=) rs142143566 0.00071
NM_016341.4(PLCE1):c.4935G>A (p.Leu1645=) rs369632735 0.00071
NM_018451.5(CPAP):c.3922G>A (p.Val1308Ile) rs140564566 0.00071
NM_024753.5(TTC21B):c.691A>T (p.Thr231Ser) rs149925563 0.00071
NM_030662.4(MAP2K2):c.498C>T (p.Pro166=) rs139404261 0.00071
NM_057176.3(BSND):c.715C>T (p.Gln239Ter) rs147394986 0.00071
NM_182961.4(SYNE1):c.7647C>T (p.His2549=) rs113163375 0.00071
NM_198428.3(BBS9):c.2214C>T (p.Ile738=) rs148536971 0.00071
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00070
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008 0.00070
NM_000183.3(HADHB):c.246A>G (p.Ala82=) rs151302743 0.00070
NM_000274.4(OAT):c.48C>T (p.Arg16=) rs143526711 0.00070
NM_000744.7(CHRNA4):c.1441G>A (p.Gly481Ser) rs111969225 0.00070
NM_000883.4(IMPDH1):c.1173A>G (p.Thr391=) rs138502867 0.00070
NM_001083961.2(WDR62):c.922A>G (p.Ile308Val) rs146229976 0.00070
NM_001127222.2(CACNA1A):c.5650G>A (p.Val1884Ile) rs201836062 0.00070
NM_001267550.2(TTN):c.72146T>C (p.Leu24049Pro) rs56399205 0.00070
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr) rs72648263 0.00070
NM_001351132.2(PEX5):c.1178G>A (p.Arg393Gln) rs145690714 0.00070
NM_001351132.2(PEX5):c.1638C>T (p.Arg546=) rs142408719 0.00070
NM_001371279.1(REEP1):c.231G>A (p.Leu77=) rs139808535 0.00070
NM_001378414.1(HDAC4):c.681C>T (p.His227=) rs148880349 0.00070
NM_001453.3(FOXC1):c.597C>G (p.Arg199=) rs529227054 0.00070
NM_001701.4(BAAT):c.685G>A (p.Val229Ile) rs141722672 0.00070
NM_001849.4(COL6A2):c.2882C>T (p.Ala961Val) rs138674440 0.00070
NM_001854.4(COL11A1):c.3639G>A (p.Gly1213=) rs143651470 0.00070
NM_003896.4(ST3GAL5):c.1212G>A (p.Glu404=) rs148195895 0.00070
NM_004984.4(KIF5A):c.1419G>A (p.Leu473=) rs139091551 0.00070
NM_005732.4(RAD50):c.1534G>T (p.Ala512Ser) rs147366706 0.00070
NM_005982.4(SIX1):c.330G>A (p.Arg110=) rs73309461 0.00070
NM_006294.5(UQCRB):c.200T>A (p.Leu67Gln) rs139283183 0.00070
NM_006642.5(SDCCAG8):c.1380G>C (p.Gln460His) rs79762798 0.00070
NM_014363.6(SACS):c.10668G>A (p.Leu3556=) rs139517699 0.00070
NM_022124.6(CDH23):c.5667C>T (p.Asn1889=) rs375358318 0.00070
NM_133642.5(LARGE1):c.1962G>A (p.Glu654=) rs141089495 0.00070
NM_138694.4(PKHD1):c.1925C>T (p.Thr642Ile) rs138968608 0.00070
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) rs150046042 0.00070
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00070
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_178138.6(LHX3):c.929G>C (p.Arg310Pro) rs201591640 0.00070
NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp) rs138836357 0.00069
NM_000440.3(PDE6A):c.784G>A (p.Ala262Thr) rs148938083 0.00069
NM_000466.3(PEX1):c.3216T>C (p.Ser1072=) rs140963147 0.00069
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=) rs146839867 0.00069
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=) rs184319249 0.00069
NM_001267550.2(TTN):c.12401T>A (p.Ile4134Asn) rs112009206 0.00069
NM_001267550.2(TTN):c.76019T>A (p.Val25340Asp) rs200287703 0.00069
NM_001277115.2(DNAH11):c.2166A>G (p.Pro722=) rs191266255 0.00069
NM_001371623.1(TCOF1):c.3620A>G (p.Tyr1207Cys) rs146226591 0.00069
NM_001966.4(EHHADH):c.1814A>G (p.Lys605Arg) rs140844253 0.00069
NM_004999.4(MYO6):c.3529C>T (p.Arg1177Cys) rs146419641 0.00069
NM_006642.5(SDCCAG8):c.267T>C (p.Ser89=) rs148818431 0.00069
NM_007317.3(KIF22):c.1048C>T (p.Arg350Cys) rs149860938 0.00069
NM_015102.5(NPHP4):c.3851G>A (p.Arg1284His) rs61739637 0.00069
NM_022124.6(CDH23):c.6429G>A (p.Thr2143=) rs142788731 0.00069
NM_152564.5(VPS13B):c.10240T>C (p.Leu3414=) rs145279584 0.00069
NM_152564.5(VPS13B):c.3811A>T (p.Thr1271Ser) rs142674934 0.00069
NM_182961.4(SYNE1):c.22617C>T (p.Leu7539=) rs111367233 0.00069
NM_201384.3(PLEC):c.1878T>A (p.Thr626=) rs377039110 0.00069
NM_206933.4(USH2A):c.5265C>T (p.Phe1755=) rs147371835 0.00069
NM_000426.4(LAMA2):c.6268+5G>C rs182064878 0.00068
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn) rs140562402 0.00068
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_000540.3(RYR1):c.5364T>G (p.Ala1788=) rs200950362 0.00068
NM_001017995.3(SH3PXD2B):c.785+4C>G rs369555721 0.00068
NM_001039876.3(SYNE4):c.243T>C (p.Ser81=) rs149158221 0.00068
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086 0.00068
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288 0.00068
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser) rs201652272 0.00068
NM_001267550.2(TTN):c.79226G>A (p.Arg26409His) rs72648206 0.00068
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu) rs2234704 0.00068
NM_001458.5(FLNC):c.6808G>A (p.Glu2270Lys) rs202223616 0.00068
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu) rs757712173 0.00068
NM_005199.5(CHRNG):c.663G>A (p.Ala221=) rs150556220 0.00068
NM_005957.5(MTHFR):c.667G>A (p.Asp223Asn) rs150847674 0.00068
NM_006031.6(PCNT):c.4140G>A (p.Ala1380=) rs372175239 0.00068
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=) rs78388808 0.00068
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro) rs138951890 0.00068
NM_012463.4(ATP6V0A2):c.1521C>T (p.Ser507=) rs142454880 0.00068
NM_014028.4(OSTM1):c.134A>G (p.Asp45Gly) rs202093691 0.00068
NM_020779.4(WDR35):c.3467T>G (p.Ile1156Arg) rs147325795 0.00068
NM_031471.6(FERMT3):c.615C>T (p.Pro205=) rs142774418 0.00068
NM_144596.4(TTC8):c.1231G>A (p.Gly411Arg) rs139773124 0.00068
NM_152564.5(VPS13B):c.1559A>G (p.His520Arg) rs143205296 0.00068
NM_153240.5(NPHP3):c.2442T>C (p.Tyr814=) rs111683745 0.00068
NM_182961.4(SYNE1):c.12255G>A (p.Gln4085=) rs145401144 0.00068
NM_182961.4(SYNE1):c.24985A>G (p.Ser8329Gly) rs142690727 0.00068
NM_182961.4(SYNE1):c.8015T>C (p.Leu2672Pro) rs147870520 0.00068
NM_201384.3(PLEC):c.6536G>A (p.Arg2179Gln) rs117962829 0.00068
NM_206933.4(USH2A):c.5802G>A (p.Ser1934=) rs149776188 0.00068
NM_000478.6(ALPL):c.612C>T (p.Ile204=) rs141448778 0.00067
NM_000551.4(VHL):c.183C>G (p.Pro61=) rs63650860 0.00067
NM_001017420.3(ESCO2):c.1031A>C (p.Gln344Pro) rs143346057 0.00067
NM_001039958.2(MESP2):c.*9G>A rs187680280 0.00067
NM_001083961.2(WDR62):c.3612C>T (p.Gly1204=) rs139946168 0.00067
NM_001242957.3(MAK):c.975G>A (p.Pro325=) rs145014649 0.00067
NM_001330677.2(TBX15):c.1728A>G (p.Gln576=) rs200564235 0.00067
NM_001378615.1(CC2D2A):c.3869T>C (p.Val1290Ala) rs200427832 0.00067
NM_001457.4(FLNB):c.4307G>A (p.Arg1436Gln) rs140018418 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_006642.5(SDCCAG8):c.925G>A (p.Val309Ile) rs149359674 0.00067
NM_014425.5(INVS):c.367C>T (p.Arg123Trp) rs149315279 0.00067
NM_024408.4(NOTCH2):c.2830G>T (p.Asp944Tyr) rs151130105 0.00067
NM_024596.5(MCPH1):c.1273T>A (p.Tyr425Asn) rs201261159 0.00067
NM_024596.5(MCPH1):c.1369G>A (p.Glu457Lys) rs201039834 0.00067
NM_025114.4(CEP290):c.4031T>C (p.Val1344Ala) rs369227219 0.00067
NM_025243.4(SLC19A3):c.801A>G (p.Gln267=) rs147205930 0.00067
NM_032119.4(ADGRV1):c.5282C>G (p.Ser1761Cys) rs200392821 0.00067
NM_139343.3(BIN1):c.30G>A (p.Thr10=) rs35535012 0.00067
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys) rs149478021 0.00067
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys) rs61748549 0.00066
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_000875.5(IGF1R):c.4009C>T (p.Arg1337Cys) rs141802822 0.00066
NM_001004320.2(AGMO):c.1213C>T (p.Arg405Ter) rs139309795 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_001267550.2(TTN):c.40498G>T (p.Val13500Phe) rs201944202 0.00066
NM_001378454.1(ALMS1):c.4134T>C (p.Ser1378=) rs200491758 0.00066
NM_001378615.1(CC2D2A):c.2326G>A (p.Gly776Arg) rs200764366 0.00066
NM_001966.4(EHHADH):c.881C>T (p.Ala294Val) rs140514906 0.00066
NM_002241.5(KCNJ10):c.615A>G (p.Lys205=) rs142228240 0.00066
NM_002768.5(CHMP1A):c.198G>A (p.Ala66=) rs201479143 0.00066
NM_002905.5(RDH5):c.753C>T (p.Arg251=) rs141783438 0.00066
NM_003384.3(VRK1):c.1020C>T (p.Asp340=) rs147853760 0.00066
NM_003835.4(RGS9):c.1658T>C (p.Val553Ala) rs201026246 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_005476.7(GNE):c.1267A>G (p.Ile423Val) rs35638832 0.00066
NM_013382.7(POMT2):c.1935C>T (p.Leu645=) rs141193672 0.00066
NM_014714.4(IFT140):c.1667A>G (p.His556Arg) rs137925718 0.00066
NM_020754.4(ARHGAP31):c.452G>A (p.Arg151Gln) rs201519981 0.00066
NM_020975.6(RET):c.1124T>A (p.Leu375Gln) rs142338976 0.00066
NM_024301.5(FKRP):c.606G>A (p.Leu202=) rs140084192 0.00066
NM_024649.5(BBS1):c.616T>G (p.Leu206Val) rs146052054 0.00066
NM_025265.4(TSEN2):c.1332A>G (p.Lys444=) rs113981920 0.00066
NM_030665.4(RAI1):c.5036C>T (p.Ala1679Val) rs142981643 0.00066
NM_032119.4(ADGRV1):c.15177G>T (p.Gln5059His) rs201416399 0.00066
NM_138694.4(PKHD1):c.9553G>A (p.Val3185Ile) rs145651593 0.00066
NM_152564.5(VPS13B):c.7712C>T (p.Ser2571Phe) rs145208175 0.00066
NM_182961.4(SYNE1):c.24555C>T (p.Ile8185=) rs201799566 0.00066
NM_201384.3(PLEC):c.2642C>T (p.Thr881Met) rs200611519 0.00066
NM_201384.3(PLEC):c.5796G>A (p.Ala1932=) rs375568532 0.00066
NM_000306.4(POU1F1):c.605-5T>G rs201406891 0.00065
NM_000426.4(LAMA2):c.2115T>G (p.Leu705=) rs149753273 0.00065
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu) rs142994610 0.00065
NM_001035.3(RYR2):c.615C>T (p.Ala205=) rs112680790 0.00065
NM_001083961.2(WDR62):c.1769-7C>T rs137919897 0.00065
NM_001127644.2(GABRA1):c.1155C>A (p.Gly385=) rs41308303 0.00065
NM_001130987.2(DYSF):c.990C>T (p.Leu330=) rs140809078 0.00065
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910 0.00065
NM_001267550.2(TTN):c.55374C>G (p.Ser18458Arg) rs200550947 0.00065
NM_001277313.2(FMN1):c.2044-2686C>T rs202063843 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_004086.3(COCH):c.153A>C (p.Pro51=) rs573330522 0.00065
NM_004568.6(SERPINB6):c.750C>T (p.Tyr250=) rs35617833 0.00065
NM_005609.4(PYGM):c.1957C>G (p.Leu653Val) rs61736659 0.00065
NM_005732.4(RAD50):c.671G>A (p.Arg224His) rs28903088 0.00065
NM_006017.3(PROM1):c.1610A>G (p.Asp537Gly) rs200545555 0.00065
NM_006017.3(PROM1):c.1928C>G (p.Ala643Gly) rs62617075 0.00065
NM_013382.7(POMT2):c.649G>A (p.Ala217Thr) rs144748043 0.00065
NM_153240.5(NPHP3):c.3756C>G (p.Ser1252Arg) rs143451766 0.00065
NM_206933.4(USH2A):c.11225A>G (p.Asn3742Ser) rs139921272 0.00065
NM_206933.4(USH2A):c.12598T>G (p.Trp4200Gly) rs114116572 0.00065
NM_206933.4(USH2A):c.4578G>T (p.Gly1526=) rs147560504 0.00065
NM_000053.4(ATP7B):c.98T>C (p.Met33Thr) rs184868522 0.00064
NM_000059.4(BRCA2):c.7007+53G>A rs56014558 0.00064
NM_000466.3(PEX1):c.2645C>T (p.Pro882Leu) rs141764012 0.00064
NM_000875.5(IGF1R):c.1784G>A (p.Arg595His) rs56248469 0.00064
NM_001015880.2(PAPSS2):c.1167C>T (p.Asp389=) rs145242127 0.00064
NM_001077525.3(MTMR14):c.780T>A (p.Asp260Glu) rs142525507 0.00064
NM_001183.6(ATP6AP1):c.43C>T (p.Arg15Trp) rs201620814 0.00064
NM_001267550.2(TTN):c.19063G>T (p.Asp6355Tyr) rs188878341 0.00064
NM_001267550.2(TTN):c.59316G>A (p.Pro19772=) rs377180286 0.00064
NM_001267550.2(TTN):c.78896T>A (p.Val26299Asp) rs73036377 0.00064
NM_001378454.1(ALMS1):c.3305A>C (p.Lys1102Thr) rs185586839 0.00064
NM_001379081.2(FREM1):c.3631C>T (p.Pro1211Ser) rs76714828 0.00064
NM_001849.4(COL6A2):c.1761C>T (p.Pro587=) rs146311719 0.00064
NM_001854.4(COL11A1):c.3811G>T (p.Val1271Leu) rs150669855 0.00064
NM_003193.5(TBCE):c.1465C>A (p.Leu489Ile) rs143917509 0.00064
NM_003865.3(HESX1):c.385G>A (p.Val129Ile) rs143057250 0.00064
NM_004260.4(RECQL4):c.3600G>A (p.Thr1200=) rs35225938 0.00064
NM_004984.4(KIF5A):c.1150G>C (p.Gly384Arg) rs143326964 0.00064
NM_005881.4(BCKDK):c.1218G>A (p.Arg406=) rs145180240 0.00064
NM_005957.5(MTHFR):c.1392C>T (p.Thr464=) rs79157191 0.00064
NM_006348.5(COG5):c.1037C>T (p.Pro346Leu) rs143773937 0.00064
NM_007126.5(VCP):c.1584C>T (p.Ala528=) rs147623367 0.00064
NM_012418.4(FSCN2):c.1274-3C>T rs201054437 0.00064
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu) rs141033098 0.00064
NM_014026.6(DCPS):c.87G>T (p.Glu29Asp) rs147935593 0.00064
NM_016356.5(DCDC2):c.402G>A (p.Pro134=) rs142088541 0.00064
NM_018941.4(CLN8):c.513C>G (p.Pro171=) rs376910635 0.00064
NM_022455.5(NSD1):c.5520A>G (p.Glu1840=) rs140815139 0.00064
NM_032119.4(ADGRV1):c.2459A>G (p.Asn820Ser) rs144918959 0.00064
NM_032119.4(ADGRV1):c.2740T>C (p.Tyr914His) rs189967386 0.00064
NM_058246.4(DNAJB6):c.962C>T (p.Ser321Leu) rs142974468 0.00064
NM_080916.3(DGUOK):c.708-3T>C rs370071744 0.00064
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=) rs138388301 0.00064
NM_147196.3(TMIE):c.206C>T (p.Ser69Phe) rs188085072 0.00064
NM_182914.3(SYNE2):c.3506G>A (p.Arg1169His) rs200437377 0.00064
NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln) rs117647282 0.00064
NM_198859.4(PRICKLE2):c.1314G>C (p.Gln438His) rs202170644 0.00064
NM_201384.3(PLEC):c.5024G>A (p.Arg1675Gln) rs370569372 0.00064
NM_000070.3(CAPN3):c.525C>T (p.Asp175=) rs144383442 0.00063
NM_000202.8(IDS):c.396G>A (p.Ser132=) rs147108245 0.00063
NM_000318.3(PEX2):c.269C>T (p.Ser90Phe) rs146354196 0.00063
NM_000377.3(WAS):c.538C>A (p.His180Asn) rs145040665 0.00063
NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=) rs111033193 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_001039876.3(SYNE4):c.277G>A (p.Glu93Lys) rs145204031 0.00063
NM_001039876.3(SYNE4):c.756G>A (p.Ala252=) rs137899688 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.77716G>A (p.Glu25906Lys) rs56341835 0.00063
NM_001267550.2(TTN):c.84263G>A (p.Ser28088Asn) rs200450022 0.00063
NM_001267550.2(TTN):c.91601A>T (p.Asp30534Val) rs182549226 0.00063
NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys) rs144291418 0.00063
NM_002206.3(ITGA7):c.1722C>A (p.Ala574=) rs142311782 0.00063
NM_003193.5(TBCE):c.100+6C>T rs182896657 0.00063
NM_005633.4(SOS1):c.3391+7A>G rs201982464 0.00063
NM_006031.6(PCNT):c.7655G>A (p.Arg2552His) rs199589423 0.00063
NM_006129.5(BMP1):c.2134G>A (p.Gly712Ser) rs117159093 0.00063
NM_014140.4(SMARCAL1):c.863-9C>G rs188833040 0.00063
NM_031220.4(PITPNM3):c.987G>A (p.Leu329=) rs148451236 0.00063
NM_133379.5(TTN):c.16613G>A (p.Arg5538His) rs145932311 0.00063
NM_153704.6(TMEM67):c.107C>T (p.Ala36Val) rs34779331 0.00063
NM_198904.4(GABRG2):c.798T>C (p.Phe266=) rs115126975 0.00063
NM_207122.2(EXT2):c.1588G>A (p.Glu530Lys) rs148711133 0.00063
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr) rs142358238 0.00062
NM_000057.4(BLM):c.2919C>T (p.Tyr973=) rs181161119 0.00062
NM_000322.5(PRPH2):c.708C>T (p.Tyr236=) rs61755813 0.00062
NM_000719.7(CACNA1C):c.1707A>G (p.Ala569=) rs375534041 0.00062
NM_001130987.2(DYSF):c.559G>A (p.Gly187Arg) rs200970855 0.00062
NM_001173467.3(SP7):c.1272G>A (p.Glu424=) rs182820275 0.00062
NM_001252024.2(TRPM1):c.507C>T (p.His169=) rs201157794 0.00062
NM_001267550.2(TTN):c.20798G>C (p.Gly6933Ala) rs200118743 0.00062
NM_001267550.2(TTN):c.92294G>C (p.Arg30765Thr) rs373099440 0.00062
NM_001330078.2(NRXN1):c.1945A>G (p.Ile649Val) rs200074974 0.00062
NM_001378454.1(ALMS1):c.5462C>T (p.Pro1821Leu) rs200266868 0.00062
NM_002473.6(MYH9):c.2872G>A (p.Ala958Thr) rs151036570 0.00062
NM_002473.6(MYH9):c.591G>A (p.Ser197=) rs140241271 0.00062
NM_002857.4(PEX19):c.498T>G (p.Asp166Glu) rs142780305 0.00062
NM_003049.4(SLC10A1):c.957G>A (p.Met319Ile) rs149272163 0.00062
NM_004004.6(GJB2):c.503A>G (p.Lys168Arg) rs200104362 0.00062
NM_004006.3(DMD):c.10262+1G>A rs145603325 0.00062
NM_004608.4(TBX6):c.585C>T (p.Val195=) rs148435229 0.00062
NM_005529.7(HSPG2):c.732A>G (p.Thr244=) rs139842104 0.00062
NM_006017.3(PROM1):c.1469G>A (p.Ser490Asn) rs201027172 0.00062
NM_013382.7(POMT2):c.1903G>A (p.Val635Ile) rs142299878 0.00062
NM_015192.4(PLCB1):c.2841A>G (p.Glu947=) rs35245209 0.00062
NM_016239.4(MYO15A):c.8157C>T (p.His2719=) rs373955726 0.00062
NM_017950.4(CCDC40):c.2968G>A (p.Asp990Asn) rs200958035 0.00062
NM_021072.4(HCN1):c.1619-3T>C rs376434225 0.00062
NM_022124.6(CDH23):c.1185C>T (p.Ser395=) rs185105210 0.00062
NM_031220.4(PITPNM3):c.2355G>A (p.Pro785=) rs146899730 0.00062
NM_153026.3(PRICKLE1):c.2216C>T (p.Ser739Phe) rs138452760 0.00062
NM_201384.3(PLEC):c.7098G>T (p.Arg2366=) rs79489944 0.00062
NM_213599.3(ANO5):c.294G>A (p.Ala98=) rs142858990 0.00062
NM_000235.4(LIPA):c.889A>G (p.Ser297Gly) rs147426329 0.00061
NM_000283.4(PDE6B):c.2193+15C>T rs376883350 0.00061
NM_000295.5(SERPINA1):c.43C>T (p.Leu15=) rs147283849 0.00061
NM_000540.3(RYR1):c.443C>T (p.Thr148Ile) rs151325948 0.00061
NM_000875.5(IGF1R):c.2121C>T (p.Ala707=) rs34129005 0.00061
NM_001017995.3(SH3PXD2B):c.1602G>A (p.Gly534=) rs144228973 0.00061
NM_001089.3(ABCA3):c.385G>A (p.Val129Met) rs137924161 0.00061
NM_001126121.2(SLC25A19):c.842T>G (p.Phe281Cys) rs138376525 0.00061
NM_001206979.2(NR1H4):c.18T>C (p.Asn6=) rs140648896 0.00061
NM_001267550.2(TTN):c.16313A>G (p.Lys5438Arg) rs190636272 0.00061
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys) rs149470241 0.00061
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505 0.00061
NM_001267550.2(TTN):c.39211+6C>T rs187365142 0.00061
NM_001267550.2(TTN):c.81472C>G (p.Pro27158Ala) rs200771189 0.00061
NM_001267550.2(TTN):c.83516G>A (p.Arg27839Gln) rs376820301 0.00061
NM_001330260.2(SCN8A):c.1819G>A (p.Ala607Thr) rs367949317 0.00061
NM_001353214.3(DYM):c.1943A>G (p.Gln648Arg) rs146000214 0.00061
NM_001378120.1(MBD5):c.236G>A (p.Gly79Glu) rs34995577 0.00061
NM_001378615.1(CC2D2A):c.2774G>A (p.Arg925Gln) rs200707391 0.00061
NM_001458.5(FLNC):c.4553A>G (p.Lys1518Arg) rs201635205 0.00061
NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu) rs117583120 0.00061
NM_001854.4(COL11A1):c.4032G>A (p.Pro1344=) rs147637674 0.00061
NM_002206.3(ITGA7):c.537G>A (p.Gly179=) rs145463677 0.00061
NM_002693.3(POLG):c.1386G>A (p.Ser462=) rs62640034 0.00061
NM_002900.3(RBP3):c.126G>A (p.Pro42=) rs146175391 0.00061
NM_003742.4(ABCB11):c.383G>A (p.Arg128His) rs181533618 0.00061
NM_004369.4(COL6A3):c.3902G>A (p.Arg1301Gln) rs148038440 0.00061
NM_005562.3(LAMC2):c.1318A>G (p.Ile440Val) rs147889360 0.00061
NM_005957.5(MTHFR):c.1032-6A>G rs2066464 0.00061
NM_006412.4(AGPAT2):c.269G>A (p.Arg90His) rs142176861 0.00061
NM_007254.4(PNKP):c.901C>T (p.Arg301Trp) rs201503405 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_016356.5(DCDC2):c.817C>T (p.Pro273Ser) rs146787541 0.00061
NM_017739.4(POMGNT1):c.453G>A (p.Thr151=) rs146121135 0.00061
NM_024422.6(DSC2):c.172T>G (p.Phe58Val) rs138749562 0.00061
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe) rs200816323 0.00061
NM_133497.4(KCNV2):c.80G>A (p.Arg27His) rs145731729 0.00061
NM_152564.5(VPS13B):c.11852T>C (p.Ile3951Thr) rs73273219 0.00061
NM_201384.3(PLEC):c.9049C>T (p.Arg3017Trp) rs201041716 0.00061
NM_206933.4(USH2A):c.12823T>A (p.Ser4275Thr) rs138607917 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_000137.4(FAH):c.553+10C>T rs201051426 0.00060
NM_000318.3(PEX2):c.722G>T (p.Gly241Val) rs150734057 0.00060
NM_000426.4(LAMA2):c.6629T>C (p.Val2210Ala) rs78880369 0.00060
NM_000543.5(SMPD1):c.8G>A (p.Arg3His) rs199836262 0.00060
NM_001164508.2(NEB):c.20671C>T (p.Leu6891Phe) rs182866658 0.00060
NM_001191061.2(SLC25A22):c.140C>T (p.Thr47Met) rs142220309 0.00060
NM_001267550.2(TTN):c.29042-2A>C rs6716782 0.00060
NM_001267550.2(TTN):c.55659G>A (p.Val18553=) rs368450420 0.00060
NM_001267550.2(TTN):c.74596A>G (p.Thr24866Ala) rs199784966 0.00060
NM_001369268.1(ACAN):c.1448G>A (p.Arg483His) rs200950723 0.00060
NM_001384140.1(PCDH15):c.5022C>T (p.Ala1674=) rs377244811 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_004369.4(COL6A3):c.8009C>T (p.Ala2670Val) rs142851023 0.00060
NM_005506.4(SCARB2):c.424-4G>A rs368869126 0.00060
NM_005609.4(PYGM):c.1083C>T (p.Asp361=) rs141959242 0.00060
NM_012301.4(MAGI2):c.3706+5G>A rs188293910 0.00060
NM_014208.3(DSPP):c.1073G>A (p.Arg358Lys) rs201110163 0.00060
NM_015102.5(NPHP4):c.1482G>A (p.Gln494=) rs199557439 0.00060
NM_015102.5(NPHP4):c.2259C>T (p.Asp753=) rs199628481 0.00060
NM_015192.4(PLCB1):c.1881G>A (p.Gln627=) rs45492700 0.00060
NM_017668.3(NDE1):c.386+9G>A rs147174812 0.00060
NM_022436.3(ABCG5):c.510C>T (p.Ala170=) rs147061424 0.00060
NM_024301.5(FKRP):c.969C>T (p.Arg323=) rs532054402 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.14761G>A (p.Ala4921Thr) rs200115167 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_153676.4(USH1C):c.669C>A (p.Gly223=) rs144761543 0.00060
NM_182961.4(SYNE1):c.5282A>G (p.Gln1761Arg) rs146244669 0.00060
NM_182961.4(SYNE1):c.5421+9G>T rs376218204 0.00060
NM_201384.3(PLEC):c.10158G>A (p.Ala3386=) rs373820763 0.00060
NM_201384.3(PLEC):c.3588C>T (p.Asp1196=) rs377059744 0.00060
NM_203447.4(DOCK8):c.3263C>T (p.Thr1088Met) rs149065013 0.00060
NM_000431.4(MVK):c.441C>T (p.Ala147=) rs138342076 0.00059
NM_000445.5(PLEC):c.133G>A (p.Gly45Ser) rs201820569 0.00059
NM_001130987.2(DYSF):c.3814C>T (p.Arg1272Trp) rs146970014 0.00059
NM_001134407.3(GRIN2A):c.2883C>T (p.Asn961=) rs77705198 0.00059
NM_001267550.2(TTN):c.68824G>A (p.Glu22942Lys) rs199506676 0.00059
NM_001267550.2(TTN):c.72587G>A (p.Arg24196His) rs200317412 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_001457.4(FLNB):c.6843C>T (p.Ile2281=) rs140332932 0.00059
NM_001966.4(EHHADH):c.1006G>A (p.Ala336Thr) rs146431168 0.00059
NM_002471.4(MYH6):c.5652C>T (p.Ala1884=) rs200662317 0.00059
NM_006493.4(CLN5):c.459G>A (p.Met153Ile) rs144656959 0.00059
NM_012254.3(SLC27A5):c.1377+10C>T rs146267408 0.00059
NM_020779.4(WDR35):c.1227A>G (p.Thr409=) rs148828104 0.00059
NM_207361.6(FREM2):c.2740T>G (p.Cys914Gly) rs146685625 0.00059
NM_000033.4(ABCD1):c.1818G>A (p.Ser606=) rs140263823 0.00058
NM_000152.5(GAA):c.2417C>T (p.Thr806Met) rs139850074 0.00058
NM_000182.5(HADHA):c.1212G>C (p.Val404=) rs116396996 0.00058
NM_000243.3(MEFV):c.932C>T (p.Ala311Val) rs74346519 0.00058
NM_000742.4(CHRNA2):c.383G>A (p.Gly128Asp) rs138682847 0.00058
NM_000823.4(GHRHR):c.489C>T (p.Tyr163=) rs147098353 0.00058
NM_001017420.3(ESCO2):c.929A>T (p.Glu310Val) rs145734811 0.00058
NM_001040142.2(SCN2A):c.100G>A (p.Ala34Thr) rs144814658 0.00058
NM_001077418.3(TMEM231):c.129C>T (p.Phe43=) rs377440297 0.00058
NM_001079.4(ZAP70):c.1025T>C (p.Ile342Thr) rs142702703 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_001252024.2(TRPM1):c.4499C>T (p.Thr1500Met) rs201617759 0.00058
NM_001267550.2(TTN):c.24952G>A (p.Val8318Ile) rs200103997 0.00058
NM_001267550.2(TTN):c.25481G>A (p.Arg8494Gln) rs201418615 0.00058
NM_001267550.2(TTN):c.50758C>G (p.Pro16920Ala) rs377289817 0.00058
NM_001319074.4(RAX2):c.156G>A (p.Pro52=) rs141804618 0.00058
NM_001330260.2(SCN8A):c.3204C>T (p.Ser1068=) rs201045619 0.00058
NM_001365536.1(SCN9A):c.1464C>T (p.Leu488=) rs200682458 0.00058
NM_001793.6(CDH3):c.1785C>T (p.Val595=) rs376302917 0.00058
NM_001851.6(COL9A1):c.353G>A (p.Arg118Gln) rs143848379 0.00058
NM_001927.4(DES):c.656C>T (p.Thr219Ile) rs144901249 0.00058
NM_002617.4(PEX10):c.896C>T (p.Ala299Val) rs78620392 0.00058
NM_002618.4(PEX13):c.325C>T (p.Arg109Cys) rs143972531 0.00058
NM_005220.3(DLX3):c.82G>T (p.Asp28Tyr) rs147702169 0.00058
NM_005378.6(MYCN):c.8G>C (p.Ser3Thr) rs373683425 0.00058
NM_005422.4(TECTA):c.2444C>T (p.Thr815Met) rs111759871 0.00058
NM_005989.4(AKR1D1):c.49A>G (p.Ser17Gly) rs143960528 0.00058
NM_006662.3(SRCAP):c.7248C>T (p.Ser2416=) rs138152469 0.00058
NM_006950.3(SYN1):c.1615G>A (p.Gly539Ser) rs794727076 0.00058
NM_012254.3(SLC27A5):c.1338G>A (p.Gly446=) rs148459550 0.00058
NM_013382.7(POMT2):c.1701C>G (p.Pro567=) rs151051452 0.00058
NM_014425.5(INVS):c.2386C>G (p.Gln796Glu) rs147731667 0.00058
NM_015404.4(WHRN):c.191C>A (p.Ala64Asp) rs146655362 0.00058
NM_015915.5(ATL1):c.1200G>A (p.Lys400=) rs144792471 0.00058
NM_022455.5(NSD1):c.3389A>G (p.Glu1130Gly) rs113856002 0.00058
NM_030665.4(RAI1):c.1538A>G (p.Gln513Arg) rs147091667 0.00058
NM_057176.3(BSND):c.851G>A (p.Gly284Asp) rs150426464 0.00058
NM_133259.4(LRPPRC):c.1678A>T (p.Ile560Leu) rs144826521 0.00058
NM_152564.5(VPS13B):c.7647C>T (p.Phe2549=) rs112634620 0.00058
NM_173477.5(USH1G):c.1340G>A (p.Arg447Gln) rs201359669 0.00058
NM_182961.4(SYNE1):c.3074A>T (p.Asp1025Val) rs143093185 0.00058
NM_182961.4(SYNE1):c.3536A>C (p.Glu1179Ala) rs117461489 0.00058
NM_198525.3(KIF7):c.2237G>A (p.Arg746Gln) rs151317163 0.00058
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu) rs115403785 0.00058
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His) rs144797861 0.00057
NM_000180.4(GUCY2D):c.164C>T (p.Thr55Met) rs201414567 0.00057
NM_000392.5(ABCC2):c.2613A>G (p.Glu871=) rs76302654 0.00057
NM_001044.5(SLC6A3):c.1676C>T (p.Ala559Val) rs28364997 0.00057
NM_001080.3(ALDH5A1):c.183C>G (p.Thr61=) rs776791710 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.103292C>T (p.Thr34431Met) rs192001910 0.00057
NM_001267550.2(TTN):c.103688T>C (p.Val34563Ala) rs55945684 0.00057
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485 0.00057
NM_001378615.1(CC2D2A):c.2945G>A (p.Arg982His) rs150093365 0.00057
NM_001458.5(FLNC):c.2390-8C>G rs146063718 0.00057
NM_001848.3(COL6A1):c.993C>T (p.Asp331=) rs373948031 0.00057
NM_001849.4(COL6A2):c.1437T>C (p.Ala479=) rs149077114 0.00057
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala) rs191564916 0.00057
NM_002334.4(LRP4):c.570C>T (p.Pro190=) rs147353838 0.00057
NM_002473.6(MYH9):c.1566G>A (p.Pro522=) rs145517108 0.00057
NM_006662.3(SRCAP):c.2573G>A (p.Arg858His) rs35892240 0.00057
NM_016356.5(DCDC2):c.1423G>A (p.Val475Met) rs145154884 0.00057
NM_022124.6(CDH23):c.3927G>A (p.Glu1309=) rs115398922 0.00057
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00057
NM_024301.5(FKRP):c.531G>A (p.Glu177=) rs768007208 0.00057
NM_133642.5(LARGE1):c.211G>A (p.Glu71Lys) rs116164106 0.00057
NM_138694.4(PKHD1):c.11800G>A (p.Val3934Ile) rs149111536 0.00057
NM_170707.4(LMNA):c.1912G>A (p.Gly638Arg) rs144851946 0.00057
NM_178857.6(RP1L1):c.3200G>C (p.Gly1067Ala) rs201393573 0.00057
NM_000035.4(ALDOB):c.525C>T (p.Ala175=) rs144196914 0.00056
NM_000141.5(FGFR2):c.759T>G (p.Pro253=) rs3135755 0.00056
NM_000327.4(ROM1):c.940G>A (p.Gly314Arg) rs141919268 0.00056
NM_000392.5(ABCC2):c.3561G>A (p.Glu1187=) rs17216324 0.00056
NM_000410.4(HFE):c.884T>C (p.Val295Ala) rs143175221 0.00056
NM_000426.4(LAMA2):c.7300+10T>A rs200469923 0.00056
NM_000492.4(CFTR):c.*2G>A rs150914702 0.00056
NM_000492.4(CFTR):c.2245C>T (p.Leu749=) rs151235408 0.00056
NM_000702.4(ATP1A2):c.836G>A (p.Arg279Gln) rs373178892 0.00056
NM_001130438.3(SPTAN1):c.7161-9C>T rs187613754 0.00056
NM_001267550.2(TTN):c.71841G>C (p.Lys23947Asn) rs56019808 0.00056
NM_001360016.2(G6PD):c.1245C>T (p.Pro415=) rs147131392 0.00056
NM_001365088.1(SLC12A6):c.3249G>A (p.Arg1083=) rs149640638 0.00056
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=) rs371086728 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_005045.4(RELN):c.3147-4A>G rs375230548 0.00056
NM_005477.3(HCN4):c.2739G>A (p.Ala913=) rs373411041 0.00056
NM_005529.7(HSPG2):c.6541G>A (p.Ala2181Thr) rs143109401 0.00056
NM_014780.5(CUL7):c.2163T>C (p.Asp721=) rs145572983 0.00056
NM_018136.5(ASPM):c.9676T>G (p.Cys3226Gly) rs142901223 0.00056
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro) rs149522412 0.00056
NM_025074.7(FRAS1):c.969G>A (p.Val323=) rs377333036 0.00056
NM_032119.4(ADGRV1):c.8161A>G (p.Ile2721Val) rs201963060 0.00056
NM_138694.4(PKHD1):c.10210A>G (p.Ile3404Val) rs147612089 0.00056
NM_138694.4(PKHD1):c.2243C>T (p.Ala748Val) rs141622697 0.00056
NM_138694.4(PKHD1):c.3627G>A (p.Leu1209=) rs182216709 0.00056
NM_170699.3(GPBAR1):c.329G>A (p.Arg110His) rs186702546 0.00056
NM_182961.4(SYNE1):c.1038T>C (p.Asp346=) rs144105769 0.00056
NM_182961.4(SYNE1):c.1391A>G (p.His464Arg) rs141397112 0.00056
NM_182961.4(SYNE1):c.18789G>A (p.Ser6263=) rs150905950 0.00056
NM_182961.4(SYNE1):c.22458T>G (p.Asn7486Lys) rs139466191 0.00056
NM_198525.3(KIF7):c.3264C>T (p.Leu1088=) rs138764398 0.00056
NM_201384.3(PLEC):c.13509C>T (p.Arg4503=) rs190789703 0.00056
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp) rs142509759 0.00055
NM_000393.5(COL5A2):c.3471+8A>T rs367643805 0.00055
NM_000430.4(PAFAH1B1):c.387T>C (p.Asp129=) rs140936904 0.00055
NM_000460.4(THPO):c.639T>A (p.Thr213=) rs1042348 0.00055
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys) rs142348542 0.00055
NM_000843.4(GRM6):c.1571C>T (p.Pro524Leu) rs143491269 0.00055
NM_001128178.3(NPHP1):c.1419A>G (p.Ile473Met) rs147945403 0.00055
NM_001164508.2(NEB):c.6088C>T (p.Leu2030Phe) rs200251444 0.00055
NM_001173990.3(TMEM216):c.140T>C (p.Val47Ala) rs762918371 0.00055
NM_001232.4(CASQ2):c.567C>G (p.Phe189Leu) rs146664754 0.00055
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys) rs72646859 0.00055
NM_001377299.1(NDUFS2):c.1138C>G (p.His380Asp) rs144411579 0.00055
NM_001614.5(ACTG1):c.228C>T (p.Val76=) rs143028649 0.00055
NM_001966.4(EHHADH):c.1068C>T (p.His356=) rs142166617 0.00055
NM_014112.5(TRPS1):c.3328C>T (p.Leu1110Phe) rs148023627 0.00055
NM_014208.3(DSPP):c.768C>T (p.Asp256=) rs374400491 0.00055
NM_014639.4(SKIC3):c.3341+9A>G rs376170264 0.00055
NM_024685.4(BBS10):c.1436C>A (p.Ala479Glu) rs138434761 0.00055
NM_170784.3(MKKS):c.*10A>G rs144934812 0.00055
NM_181303.2(NLGN3):c.603C>G (p.Pro201=) rs35794236 0.00055
NM_201384.3(PLEC):c.11594G>A (p.Arg3865His) rs200722246 0.00055
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp) rs138828590 0.00054
NM_000092.5(COL4A4):c.4185G>A (p.Gly1395=) rs55978207 0.00054
NM_000231.3(SGCG):c.58A>G (p.Asn20Asp) rs763248287 0.00054
NM_000288.4(PEX7):c.418-4G>T rs199552223 0.00054
NM_000392.5(ABCC2):c.4071G>C (p.Gln1357His) rs148393425 0.00054
NM_000553.6(WRN):c.3453G>A (p.Glu1151=) rs144116311 0.00054
NM_001004127.3(ALG11):c.802C>A (p.Leu268Ile) rs148434423 0.00054
NM_001256317.3(TMPRSS3):c.412G>A (p.Ala138Thr) rs140614903 0.00054
NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val) rs148140756 0.00054
NM_001267550.2(TTN):c.49357C>A (p.Pro16453Thr) rs200121902 0.00054
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637 0.00054
NM_001267550.2(TTN):c.62432A>G (p.Asp20811Gly) rs72646849 0.00054
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) rs72646855 0.00054
NM_001360.3(DHCR7):c.1368C>T (p.Gly456=) rs144562471 0.00054
NM_001367624.2(ZNF469):c.1088C>T (p.Ser363Leu) rs771000169 0.00054
NM_001370466.1(NOD2):c.850C>T (p.Arg284Trp) rs104895427 0.00054
NM_001384140.1(PCDH15):c.3817C>A (p.Arg1273Ser) rs111033363 0.00054
NM_001457.4(FLNB):c.4040A>G (p.Asn1347Ser) rs146093652 0.00054
NM_001701.4(BAAT):c.341T>A (p.Val114Glu) rs143561437 0.00054
NM_002334.4(LRP4):c.1194A>G (p.Glu398=) rs138589242 0.00054
NM_003049.4(SLC10A1):c.393T>G (p.Leu131=) rs61744165 0.00054
NM_003193.5(TBCE):c.833+8G>T rs372236046 0.00054
NM_003977.4(AIP):c.382C>T (p.Arg128Cys) rs140530307 0.00054
NM_004006.3(DMD):c.8436T>C (p.Leu2812=) rs139365076 0.00054
NM_005045.4(RELN):c.6939T>C (p.Ile2313=) rs113498433 0.00054
NM_006078.5(CACNG2):c.640G>A (p.Ala214Thr) rs139052540 0.00054
NM_006516.4(SLC2A1):c.276-7T>C rs369273744 0.00054
NM_006949.4(STXBP2):c.1569G>A (p.Lys523=) rs148868283 0.00054
NM_007078.3(LDB3):c.1036G>A (p.Ala346Thr) rs201968775 0.00054
NM_012188.5(FOXI1):c.825C>T (p.Ala275=) rs147596900 0.00054
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=) rs141078449 0.00054
NM_015404.4(WHRN):c.1455G>A (p.Pro485=) rs141807746 0.00054
NM_015915.5(ATL1):c.631-7T>A rs186528086 0.00054
NM_016239.4(MYO15A):c.7984C>G (p.Leu2662Val) rs200930743 0.00054
NM_032119.4(ADGRV1):c.10149C>T (p.Ser3383=) rs376298949 0.00054
NM_032119.4(ADGRV1):c.17528A>G (p.Tyr5843Cys) rs147011199 0.00054
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys) rs199587998 0.00054
NM_032382.5(COG8):c.1682C>T (p.Thr561Met) rs143411142 0.00054
NM_133379.5(TTN):c.14078T>C (p.Ile4693Thr) rs139486133 0.00054
NM_133379.5(TTN):c.14812A>G (p.Met4938Val) rs145581345 0.00054
NM_138694.4(PKHD1):c.10859G>A (p.Arg3620His) rs149163661 0.00054
NM_181486.4(TBX5):c.55G>T (p.Ala19Ser) rs200461617 0.00054
NM_182914.3(SYNE2):c.10494A>G (p.Thr3498=) rs201000414 0.00054
NM_182961.4(SYNE1):c.15337G>A (p.Val5113Ile) rs139170018 0.00054
NM_194318.4(B3GLCT):c.288C>T (p.Leu96=) rs9542305 0.00054
NM_201384.3(PLEC):c.6426C>T (p.Ala2142=) rs200062782 0.00054
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys) rs111033275 0.00054
NM_206933.4(USH2A):c.13343A>G (p.Asp4448Gly) rs150532013 0.00054
NM_206933.4(USH2A):c.7301-6C>T rs375499259 0.00054
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457 0.00053
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg) rs201278114 0.00053
NM_000350.3(ABCA4):c.3468C>T (p.Tyr1156=) rs113698006 0.00053
NM_000373.4(UMPS):c.126C>A (p.Gly42=) rs143828400 0.00053
NM_000390.4(CHM):c.1244+8T>A rs369829791 0.00053
NM_001038603.3(MARVELD2):c.176C>T (p.Pro59Leu) rs150434290 0.00053
NM_001039141.3(TRIOBP):c.3219G>A (p.Ala1073=) rs374759271 0.00053
NM_001267550.2(TTN):c.102657T>A (p.Ser34219Arg) rs370077023 0.00053
NM_001267550.2(TTN):c.18172C>T (p.Arg6058Cys) rs189127014 0.00053
NM_001378414.1(HDAC4):c.3174C>T (p.Ala1058=) rs142279745 0.00053
NM_001378615.1(CC2D2A):c.3046G>A (p.Glu1016Lys) rs373960465 0.00053
NM_001793.6(CDH3):c.1443C>T (p.Asp481=) rs144403828 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_004820.5(CYP7B1):c.530C>T (p.Thr177Met) rs145152682 0.00053
NM_006009.4(TUBA1A):c.4-7C>T rs560491477 0.00053
NM_006019.4(TCIRG1):c.2397C>T (p.His799=) rs141356870 0.00053
NM_006922.4(SCN3A):c.1381-4A>G rs199597878 0.00053
NM_012254.3(SLC27A5):c.1668-10C>T rs375785125 0.00053
NM_014874.4(MFN2):c.756C>T (p.Asn252=) rs137960129 0.00053
NM_015294.6(TRIM37):c.2240A>G (p.Asn747Ser) rs143613788 0.00053
NM_016239.4(MYO15A):c.877G>A (p.Asp293Asn) rs201415651 0.00053
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=) rs138986228 0.00053
NM_022124.6(CDH23):c.1446C>A (p.Val482=) rs200324241 0.00053
NM_022124.6(CDH23):c.5505G>A (p.Met1835Ile) rs200786014 0.00053
NM_032119.4(ADGRV1):c.11761G>A (p.Ala3921Thr) rs200576500 0.00053
NM_147196.3(TMIE):c.219G>A (p.Thr73=) rs202208051 0.00053
NM_152564.5(VPS13B):c.983A>G (p.His328Arg) rs181625846 0.00053
NM_201548.5(CERKL):c.589G>T (p.Ala197Ser) rs151110889 0.00053
NM_000089.4(COL1A2):c.3613C>T (p.Arg1205Trp) rs150124840 0.00052
NM_000195.5(HPS1):c.1438G>A (p.Ala480Thr) rs17109853 0.00052
NM_000426.4(LAMA2):c.3014A>G (p.Asn1005Ser) rs139244736 0.00052
NM_000540.3(RYR1):c.2091C>T (p.Ala697=) rs138704724 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_000875.5(IGF1R):c.568C>T (p.Pro190Ser) rs144739747 0.00052
NM_001039141.3(TRIOBP):c.6771G>A (p.Gln2257=) rs200793989 0.00052
NM_001082538.3(TCTN1):c.934G>A (p.Val312Ile) rs118057448 0.00052
NM_001267550.2(TTN):c.54818C>T (p.Pro18273Leu) rs201035511 0.00052
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=) rs376810671 0.00052
NM_001304438.2(TMEM132E):c.2655A>C (p.Thr885=) rs146702736 0.00052
NM_001367721.1(CASK):c.2297G>A (p.Arg766Gln) rs137964936 0.00052
NM_001374385.1(ATP8B1):c.2358G>A (p.Val786=) rs33965008 0.00052
NM_002693.3(POLG):c.678G>C (p.Gln226His) rs147282197 0.00052
NM_003742.4(ABCB11):c.167C>T (p.Ser56Leu) rs11568361 0.00052
NM_004817.4(TJP2):c.908C>T (p.Pro303Leu) rs199641113 0.00052
NM_004817.4(TJP2):c.981C>A (p.Ile327=) rs147139671 0.00052
NM_004999.4(MYO6):c.1546+6T>C rs199999513 0.00052
NM_005045.4(RELN):c.5961G>T (p.Lys1987Asn) rs143948239 0.00052
NM_006031.6(PCNT):c.5855C>T (p.Ala1952Val) rs370664761 0.00052
NM_014425.5(INVS):c.2313T>C (p.Asp771=) rs147112151 0.00052
NM_017777.4(MKS1):c.874A>G (p.Lys292Glu) rs201845569 0.00052
NM_020436.5(SALL4):c.2041G>A (p.Ala681Thr) rs147385529 0.00052
NM_022124.6(CDH23):c.1752+6G>A rs369013539 0.00052
NM_022437.3(ABCG8):c.1839T>C (p.Tyr613=) rs147582834 0.00052
NM_022464.5(SIL1):c.573G>A (p.Lys191=) rs148927511 0.00052
NM_024408.4(NOTCH2):c.6766C>T (p.Arg2256Cys) rs147522485 0.00052
NM_032119.4(ADGRV1):c.16312A>G (p.Thr5438Ala) rs201890097 0.00052
NM_182961.4(SYNE1):c.5125C>A (p.Gln1709Lys) rs140005424 0.00052
NM_182961.4(SYNE1):c.7458A>G (p.Gln2486=) rs139070088 0.00052
NM_201384.3(PLEC):c.5521G>A (p.Ala1841Thr) rs201657125 0.00052
NM_000036.3(AMPD1):c.1570T>A (p.Ser524Thr) rs140181682 0.00051
NM_000070.3(CAPN3):c.1746-7C>G rs199978708 0.00051
NM_000152.5(GAA):c.1438-9G>A rs202211401 0.00051
NM_000392.5(ABCC2):c.3521G>A (p.Arg1174His) rs139188247 0.00051
NM_000392.5(ABCC2):c.736A>C (p.Met246Leu) rs17222744 0.00051
NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr) rs200102493 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.33827-8C>T rs371318311 0.00051
NM_001267550.2(TTN):c.47998G>C (p.Asp16000His) rs201388509 0.00051
NM_001267550.2(TTN):c.55079C>T (p.Pro18360Leu) rs192788942 0.00051
NM_001267550.2(TTN):c.77216C>G (p.Ala25739Gly) rs56391938 0.00051
NM_001267550.2(TTN):c.87611C>G (p.Thr29204Arg) rs72648228 0.00051
NM_001330078.2(NRXN1):c.1365T>C (p.Leu455=) rs201727684 0.00051
NM_001378615.1(CC2D2A):c.3577A>G (p.Ile1193Val) rs188891842 0.00051
NM_001378615.1(CC2D2A):c.4648C>T (p.Leu1550=) rs199861496 0.00051
NM_001848.3(COL6A1):c.1350G>A (p.Pro450=) rs144887329 0.00051
NM_001849.4(COL6A2):c.2182G>A (p.Val728Met) rs200585528 0.00051
NM_001927.4(DES):c.934G>A (p.Asp312Asn) rs34337334 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_003673.4(TCAP):c.313G>C (p.Glu105Gln) rs146906267 0.00051
NM_004369.4(COL6A3):c.5619C>T (p.His1873=) rs146355600 0.00051
NM_004393.6(DAG1):c.1212G>A (p.Thr404=) rs139781017 0.00051
NM_006180.6(NTRK2):c.31G>T (p.Ala11Ser) rs78936193 0.00051
NM_012210.4(TRIM32):c.276C>T (p.Ser92=) rs140589523 0.00051
NM_014920.5(CILK1):c.1702A>G (p.Met568Val) rs145842629 0.00051
NM_016203.4(PRKAG2):c.1318C>T (p.His440Tyr) rs201878539 0.00051
NM_018055.5(NODAL):c.904C>T (p.Arg302Cys) rs150819707 0.00051
NM_020779.4(WDR35):c.1072G>A (p.Val358Ile) rs151227688 0.00051
NM_022437.3(ABCG8):c.1416C>T (p.Tyr472=) rs144399404 0.00051
NM_024408.4(NOTCH2):c.1567+8C>T rs372367275 0.00051
NM_025074.7(FRAS1):c.11306A>G (p.Asn3769Ser) rs112039037 0.00051
NM_025074.7(FRAS1):c.3010+9G>A rs148841455 0.00051
NM_032382.5(COG8):c.1017C>T (p.Gly339=) rs72795277 0.00051
NM_033100.4(CDHR1):c.2176C>T (p.Arg726Cys) rs141706561 0.00051
NM_133259.4(LRPPRC):c.74G>A (p.Arg25His) rs780400922 0.00051
NM_138694.4(PKHD1):c.4871G>A (p.Arg1624Gln) rs190396031 0.00051
NM_144599.5(NIPA1):c.312G>A (p.Pro104=) rs139372534 0.00051
NM_144670.6(A2ML1):c.174_175dup (p.Lys59fs) rs745711489 0.00051
NM_182914.3(SYNE2):c.16591C>A (p.Pro5531Thr) rs145036293 0.00051
NM_182961.4(SYNE1):c.5259T>C (p.Ile1753=) rs147508177 0.00051
NM_198428.3(BBS9):c.2363C>T (p.Ser788Phe) rs61753526 0.00051
NM_201384.3(PLEC):c.10302C>A (p.Thr3434=) rs199879193 0.00051
NM_201384.3(PLEC):c.540C>T (p.Cys180=) rs189256993 0.00051
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile) rs147604227 0.00050
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu) rs45496496 0.00050
NM_000452.3(SLC10A2):c.175C>T (p.Leu59=) rs150970825 0.00050
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00050
NM_000784.4(CYP27A1):c.276C>T (p.Tyr92=) rs141519183 0.00050
NM_001130987.2(DYSF):c.2020A>G (p.Lys674Glu) rs139754493 0.00050
NM_001177316.2(SLC34A3):c.1464T>C (p.Ala488=) rs144666114 0.00050
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064 0.00050
NM_001297.5(CNGB1):c.2370-9C>T rs374373659 0.00050
NM_001374385.1(ATP8B1):c.114T>G (p.Ser38=) rs141463153 0.00050
NM_001379081.2(FREM1):c.541C>T (p.Arg181Trp) rs200482899 0.00050
NM_001848.3(COL6A1):c.2876T>C (p.Val959Ala) rs144814689 0.00050
NM_003482.4(KMT2D):c.9385C>T (p.Pro3129Ser) rs200089754 0.00050
NM_004239.4(TRIP11):c.5537C>T (p.Thr1846Ile) rs141259390 0.00050
NM_004369.4(COL6A3):c.9494-10C>T rs184617787 0.00050
NM_005506.4(SCARB2):c.486C>T (p.Ala162=) rs143518519 0.00050
NM_006005.3(WFS1):c.2039A>C (p.Glu680Ala) rs144840779 0.00050
NM_012254.3(SLC27A5):c.1710G>A (p.Val570=) rs141574728 0.00050
NM_015922.3(NSDHL):c.65C>T (p.Thr22Ile) rs375100066 0.00050
NM_016156.6(MTMR2):c.1336G>A (p.Glu446Lys) rs146572467 0.00050
NM_018136.5(ASPM):c.8068C>T (p.Arg2690Trp) rs41302133 0.00050
NM_024408.4(NOTCH2):c.6363G>C (p.Lys2121Asn) rs144047610 0.00050
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met) rs150783688 0.00050
NM_201384.3(PLEC):c.3354G>A (p.Val1118=) rs375657597 0.00050
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met) rs142381713 0.00050
NM_000260.4(MYO7A):c.3283G>A (p.Glu1095Lys) rs199810429 0.00049
NM_000350.3(ABCA4):c.596C>T (p.Ala199Val) rs145065936 0.00049
NM_000501.4(ELN):c.470-10C>G rs200663056 0.00049
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser) rs141137410 0.00049
NM_001146079.2(CLDN14):c.690C>T (p.His230=) rs149733854 0.00049
NM_001164508.2(NEB):c.10201T>A (p.Ser3401Thr) rs199847072 0.00049
NM_001191061.2(SLC25A22):c.327G>A (p.Ala109=) rs141975755 0.00049
NM_001267550.2(TTN):c.24964G>T (p.Val8322Leu) rs201571580 0.00049
NM_001330260.2(SCN8A):c.4155A>C (p.Thr1385=) rs144424662 0.00049
NM_001966.4(EHHADH):c.78G>A (p.Thr26=) rs150381945 0.00049
NM_004239.4(TRIP11):c.4620T>C (p.Val1540=) rs72705400 0.00049
NM_004380.3(CREBBP):c.2850G>A (p.Thr950=) rs141651423 0.00049
NM_004380.3(CREBBP):c.2950A>T (p.Asn984Tyr) rs140406003 0.00049
NM_004407.4(DMP1):c.1107C>T (p.Asp369=) rs147451774 0.00049
NM_006214.4(PHYH):c.678+5G>T rs201499815 0.00049
NM_006445.4(PRPF8):c.6792G>A (p.Ser2264=) rs369391284 0.00049
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu) rs45487699 0.00049
NM_016239.4(MYO15A):c.9322G>A (p.Val3108Ile) rs201734915 0.00049
NM_017433.5(MYO3A):c.3037C>T (p.Arg1013Cys) rs140154015 0.00049
NM_018668.5(VPS33B):c.1362C>T (p.Ala454=) rs142964161 0.00049
NM_032119.4(ADGRV1):c.15169C>T (p.Pro5057Ser) rs183633457 0.00049
NM_032119.4(ADGRV1):c.684T>C (p.Asn228=) rs181889432 0.00049
NM_033337.3(CAV3):c.443G>A (p.Arg148Gln) rs140575619 0.00049
NM_201384.3(PLEC):c.13182C>T (p.Thr4394=) rs373958891 0.00049
NM_000260.4(MYO7A):c.676G>A (p.Ala226Thr) rs201753022 0.00048
NM_000350.3(ABCA4):c.1532G>A (p.Arg511His) rs140482171 0.00048
NM_000428.3(LTBP2):c.1686+3G>A rs190814774 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_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183 0.00048
NM_001077365.2(POMT1):c.42C>T (p.Asp14=) rs150937126 0.00048
NM_001082538.3(TCTN1):c.1563C>T (p.Tyr521=) rs368907353 0.00048
NM_001122769.3(LCA5):c.1215T>G (p.Val405=) rs41270545 0.00048
NM_001164277.2(SLC37A4):c.1168C>T (p.His390Tyr) rs199764888 0.00048
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln) rs140714512 0.00048
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) rs180975448 0.00048
NM_001267550.2(TTN):c.95270T>C (p.Ile31757Thr) rs72648259 0.00048
NM_001365536.1(SCN9A):c.3002A>G (p.Tyr1001Cys) rs199692186 0.00048
NM_001457.4(FLNB):c.6173A>G (p.Lys2058Arg) rs141698427 0.00048
NM_001844.5(COL2A1):c.1176C>T (p.Arg392=) rs201575114 0.00048
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) rs751749989 0.00048
NM_001849.4(COL6A2):c.1944C>T (p.Ile648=) rs148178994 0.00048
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633 0.00048
NM_002335.4(LRP5):c.1032G>C (p.Leu344=) rs143499301 0.00048
NM_003742.4(ABCB11):c.2927A>G (p.Gln976Arg) rs199940188 0.00048
NM_004006.3(DMD):c.3162+4A>G rs189048508 0.00048
NM_004393.6(DAG1):c.1022C>T (p.Thr341Ile) rs148759919 0.00048
NM_005529.7(HSPG2):c.7337C>T (p.Ser2446Leu) rs146950983 0.00048
NM_006005.3(WFS1):c.2424C>T (p.Ser808=) rs56035336 0.00048
NM_012210.4(TRIM32):c.*1G>A rs142781513 0.00048
NM_012470.4(TNPO3):c.120+9C>A rs372906002 0.00048
NM_016929.5(CLIC5):c.253G>A (p.Val85Ile) rs199808624 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_018136.5(ASPM):c.3189A>G (p.Leu1063=) rs146858888 0.00048
NM_022089.4(ATP13A2):c.2331C>T (p.His777=) rs144708504 0.00048
NM_024301.5(FKRP):c.456C>G (p.Ser152Arg) rs199714523 0.00048
NM_025193.4(HSD3B7):c.695-6C>T rs139152685 0.00048
NM_032119.4(ADGRV1):c.13654-7C>T rs373551551 0.00048
NM_133433.4(NIPBL):c.615G>A (p.Ser205=) rs150678035 0.00048
NM_138694.4(PKHD1):c.9363T>C (p.Asn3121=) rs183674012 0.00048
NM_152618.3(BBS12):c.978T>A (p.Thr326=) rs115635198 0.00048
NM_170707.4(LMNA):c.789G>A (p.Leu263=) rs148557956 0.00048
NM_182961.4(SYNE1):c.10396C>G (p.Leu3466Val) rs150637898 0.00048
NM_182961.4(SYNE1):c.17542-7G>A rs199762799 0.00048
NM_194248.3(OTOF):c.4483C>A (p.Arg1495=) rs147321712 0.00048
NM_201384.3(PLEC):c.13641C>G (p.Ala4547=) rs782535880 0.00048
NM_201384.3(PLEC):c.8496C>T (p.Arg2832=) rs369013440 0.00048
NM_201384.3(PLEC):c.8697C>T (p.Ser2899=) rs200383203 0.00048
NM_207122.2(EXT2):c.1534G>T (p.Val512Leu) rs147753803 0.00048
NM_000023.4(SGCA):c.690G>C (p.Leu230=) rs139454982 0.00047
NM_000452.3(SLC10A2):c.835A>T (p.Thr279Ser) rs149096396 0.00047
NM_000492.4(CFTR):c.274-6T>C rs371315549 0.00047
NM_000540.3(RYR1):c.3111C>T (p.Ser1037=) rs145434723 0.00047
NM_001018113.3(FANCB):c.989T>C (p.Ile330Thr) rs200161949 0.00047
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=) rs373721253 0.00047
NM_001080.3(ALDH5A1):c.1107C>T (p.Arg369=) rs148188703 0.00047
NM_001110556.2(FLNA):c.1450C>T (p.Arg484Trp) rs61730768 0.00047
NM_001122955.4(BSCL2):c.1100C>T (p.Pro367Leu) rs144245125 0.00047
NM_001130987.2(DYSF):c.6174G>A (p.Arg2058=) rs143762717 0.00047
NM_001134363.3(RBM20):c.529A>T (p.Thr177Ser) rs397516621 0.00047
NM_001349253.2(SCN11A):c.3473T>C (p.Leu1158Pro) rs141686175 0.00047
NM_001351132.2(PEX5):c.1814G>A (p.Ser605Asn) rs146567534 0.00047
NM_001374385.1(ATP8B1):c.433C>T (p.Leu145=) rs140634215 0.00047
NM_003482.4(KMT2D):c.1149C>T (p.Asp383=) rs201709328 0.00047
NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys) rs147192139 0.00047
NM_004463.3(FGD1):c.2816A>C (p.Glu939Ala) rs147012050 0.00047
NM_005006.7(NDUFS1):c.529A>G (p.Ile177Val) rs140126185 0.00047
NM_005120.3(MED12):c.2613G>A (p.Gln871=) rs372344160 0.00047
NM_005379.4(MYO1A):c.658C>T (p.Arg220Trp) rs144009842 0.00047
NM_005477.3(HCN4):c.1371+9G>A rs200303699 0.00047
NM_006031.6(PCNT):c.2610-8T>C rs377164652 0.00047
NM_006493.4(CLN5):c.5C>T (p.Ala2Val) rs146993892 0.00047
NM_007254.4(PNKP):c.188C>T (p.Ala63Val) rs3739173 0.00047
NM_007254.4(PNKP):c.519C>T (p.Asp173=) rs144284975 0.00047
NM_012254.3(SLC27A5):c.513C>G (p.Ala171=) rs139127895 0.00047
NM_012254.3(SLC27A5):c.524C>T (p.Thr175Ile) rs150780205 0.00047
NM_014014.5(SNRNP200):c.6369C>T (p.Ser2123=) rs61753580 0.00047
NM_014251.3(SLC25A13):c.1618C>T (p.Pro540Ser) rs75622628 0.00047
NM_024426.6(WT1):c.1131T>C (p.Pro377=) rs151034312 0.00047
NM_032382.5(COG8):c.597C>T (p.Asn199=) rs113642086 0.00047
NM_033337.3(CAV3):c.276C>T (p.Phe92=) rs72546669 0.00047
NM_152618.3(BBS12):c.979T>A (p.Ser327Thr) rs116805550 0.00047
NM_000108.5(DLD):c.100A>G (p.Thr34Ala) rs138002793 0.00046
NM_000260.4(MYO7A):c.2097C>T (p.Gly699=) rs373495082 0.00046
NM_000283.4(PDE6B):c.267C>T (p.Ala89=) rs147181781 0.00046
NM_000458.4(HNF1B):c.1108G>A (p.Gly370Ser) rs113042313 0.00046
NM_000489.6(ATRX):c.4120+4A>C rs200420513 0.00046
NM_000492.4(CFTR):c.3469-17T>C rs199630678 0.00046
NM_000540.3(RYR1):c.9262G>A (p.Val3088Met) rs145044872 0.00046
NM_001128178.3(NPHP1):c.771+134G>A rs140151060 0.00046
NM_001128228.3(TPRN):c.1468G>A (p.Val490Met) rs144139211 0.00046
NM_001130987.2(DYSF):c.978A>T (p.Thr326=) rs112007817 0.00046
NM_001267550.2(TTN):c.11788G>A (p.Glu3930Lys) rs186624523 0.00046
NM_001267550.2(TTN):c.18550G>A (p.Ala6184Thr) rs72648947 0.00046
NM_001267550.2(TTN):c.31763-1G>A rs202234172 0.00046
NM_001267550.2(TTN):c.37408G>T (p.Val12470Leu) rs398124448 0.00046
NM_001267550.2(TTN):c.47767G>A (p.Gly15923Arg) rs371943746 0.00046
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile) rs200650668 0.00046
NM_001267550.2(TTN):c.57808G>C (p.Val19270Leu) rs369440319 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_001368894.2(PAX6):c.1032G>A (p.Pro344=) rs146261351 0.00046
NM_001372044.2(SHANK3):c.4259C>T (p.Pro1420Leu) rs73174429 0.00046
NM_001374385.1(ATP8B1):c.1433A>G (p.Asp478Gly) rs200214627 0.00046
NM_001457.4(FLNB):c.4058C>G (p.Thr1353Ser) rs142718547 0.00046
NM_002025.4(AFF2):c.3088A>C (p.Ile1030Leu) rs149653283 0.00046
NM_004006.3(DMD):c.7243C>T (p.Arg2415Cys) rs139395045 0.00046
NM_004369.4(COL6A3):c.3680-5C>T rs370146203 0.00046
NM_004369.4(COL6A3):c.5139G>A (p.Gly1713=) rs114338020 0.00046
NM_005045.4(RELN):c.1386C>T (p.Cys462=) rs139321058 0.00046
NM_005045.4(RELN):c.7114G>A (p.Val2372Met) rs114344654 0.00046
NM_005529.7(HSPG2):c.8605G>C (p.Ala2869Pro) rs139838884 0.00046
NM_006204.4(PDE6C):c.219G>T (p.Gly73=) rs140469169 0.00046
NM_006486.3(FBLN1):c.286G>A (p.Gly96Ser) rs199802935 0.00046
NM_006517.5(SLC16A2):c.1596C>T (p.Ser532=) rs199904356 0.00046
NM_015102.5(NPHP4):c.1935A>G (p.Leu645=) rs200104274 0.00046
NM_015295.3(SMCHD1):c.789C>T (p.His263=) rs374899324 0.00046
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=) rs568700183 0.00046
NM_020320.5(RARS2):c.78A>C (p.Thr26=) rs138360045 0.00046
NM_022436.3(ABCG5):c.99G>A (p.Pro33=) rs149907931 0.00046
NM_030962.4(SBF2):c.5058A>T (p.Arg1686Ser) rs146230559 0.00046
NM_032119.4(ADGRV1):c.2112G>A (p.Pro704=) rs182990046 0.00046
NM_032119.4(ADGRV1):c.4666G>A (p.Glu1556Lys) rs200955930 0.00046
NM_133497.4(KCNV2):c.48G>C (p.Trp16Cys) rs146685593 0.00046
NM_153676.4(USH1C):c.2265C>T (p.Leu755=) rs151251262 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_198525.3(KIF7):c.2672G>C (p.Arg891Thr) rs143250090 0.00046
NM_201384.3(PLEC):c.10509G>A (p.Ala3503=) rs189859084 0.00046
NM_201384.3(PLEC):c.5227G>A (p.Ala1743Thr) rs781946435 0.00046
NM_201384.3(PLEC):c.5874G>A (p.Thr1958=) rs185082202 0.00046
NM_201384.3(PLEC):c.6778G>A (p.Asp2260Asn) rs371763907 0.00046
NM_201384.3(PLEC):c.8046C>T (p.Leu2682=) rs375590561 0.00046
NM_000071.3(CBS):c.394C>T (p.Arg132Cys) rs140002610 0.00045
NM_000142.5(FGFR3):c.252G>A (p.Ser84=) rs367973461 0.00045
NM_000440.3(PDE6A):c.367G>T (p.Asp123Tyr) rs147010346 0.00045
NM_000452.3(SLC10A2):c.785C>T (p.Thr262Met) rs72547505 0.00045
NM_000719.7(CACNA1C):c.2766G>A (p.Pro922=) rs184684058 0.00045
NM_000744.7(CHRNA4):c.1006C>T (p.Arg336Cys) rs56175056 0.00045
NM_001042432.2(CLN3):c.831G>A (p.Val277=) rs1142183 0.00045
NM_001061.7(TBXAS1):c.623C>G (p.Pro208Arg) rs137946697 0.00045
NM_001077365.2(POMT1):c.1365+15C>T rs58896330 0.00045
NM_001098671.2(RASGRP2):c.371+7G>T rs181901181 0.00045
NM_001101426.4(CRPPA):c.808C>T (p.Leu270Phe) rs200334999 0.00045
NM_001130987.2(DYSF):c.4254C>T (p.Pro1418=) rs142769942 0.00045
NM_001193315.2(VIPAS39):c.447+9C>T rs145373891 0.00045
NM_001244008.2(KIF1A):c.3330G>A (p.Ala1110=) rs200149062 0.00045
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly) rs200166942 0.00045
NM_001267550.2(TTN):c.10049C>T (p.Pro3350Leu) rs139504522 0.00045
NM_001267550.2(TTN):c.41488G>A (p.Val13830Ile) rs149059189 0.00045
NM_001267550.2(TTN):c.91311A>G (p.Glu30437=) rs374094732 0.00045
NM_001297.5(CNGB1):c.2209C>T (p.Arg737Cys) rs192843629 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_002617.4(PEX10):c.418G>C (p.Gly140Arg) rs76530653 0.00045
NM_003072.5(SMARCA4):c.2850C>T (p.Thr950=) rs141259126 0.00045
NM_003289.4(TPM2):c.726C>T (p.Ala242=) rs76414035 0.00045
NM_004004.6(GJB2):c.*1C>T rs111033327 0.00045
NM_004006.3(DMD):c.2457A>C (p.Leu819=) rs72468680 0.00045
NM_005996.4(TBX3):c.1290C>T (p.Gly430=) rs369999628 0.00045
NM_006005.3(WFS1):c.2627A>C (p.Lys876Thr) rs144900514 0.00045
NM_014140.4(SMARCAL1):c.962G>A (p.Gly321Asp) rs148752234 0.00045
NM_015340.4(LARS2):c.2203G>A (p.Val735Ile) rs141011840 0.00045
NM_016239.4(MYO15A):c.858C>G (p.Pro286=) rs200424851 0.00045
NM_018979.4(WNK1):c.3578G>A (p.Ser1193Asn) rs72650720 0.00045
NM_020779.4(WDR35):c.1051C>G (p.Pro351Ala) rs140753861 0.00045
NM_021101.5(CLDN1):c.41C>T (p.Ala14Val) rs141961866 0.00045
NM_021830.5(TWNK):c.384C>T (p.Ser128=) rs148234280 0.00045
NM_022124.6(CDH23):c.5050C>T (p.Arg1684Cys) rs111033522 0.00045
NM_032119.4(ADGRV1):c.14432C>A (p.Pro4811Gln) rs201747452 0.00045
NM_080680.3(COL11A2):c.1382G>A (p.Gly461Asp) rs141140798 0.00045
NM_133379.5(TTN):c.12979A>G (p.Ile4327Val) rs144226338 0.00045
NM_133379.5(TTN):c.16328T>C (p.Val5443Ala) rs145183384 0.00045
NM_138694.4(PKHD1):c.6782A>G (p.Asn2261Ser) rs146102132 0.00045
NM_000070.3(CAPN3):c.2235C>T (p.Tyr745=) rs147774793 0.00044
NM_000078.3(CETP):c.940G>A (p.Glu314Lys) rs140547417 0.00044
NM_000214.3(JAG1):c.1755C>T (p.Asn585=) rs142808131 0.00044
NM_000271.5(NPC1):c.3548G>A (p.Arg1183His) rs148035987 0.00044
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu) rs61748434 0.00044
NM_000338.3(SLC12A1):c.1089A>G (p.Ala363=) rs142646329 0.00044
NM_000392.5(ABCC2):c.4075A>C (p.Ile1359Leu) rs142700351 0.00044
NM_000426.4(LAMA2):c.1645C>T (p.Pro549Ser) rs139070796 0.00044
NM_000443.4(ABCB4):c.3296A>G (p.Glu1099Gly) rs139042803 0.00044
NM_001061.7(TBXAS1):c.1520A>T (p.Glu507Val) rs200663004 0.00044
NM_001267550.2(TTN):c.66172C>T (p.Arg22058Cys) rs199643269 0.00044
NM_001267550.2(TTN):c.84871C>T (p.Arg28291Cys) rs192152102 0.00044
NM_001351132.2(PEX5):c.552-7G>A rs189631769 0.00044
NM_001849.4(COL6A2):c.426G>A (p.Thr142=) rs149480738 0.00044
NM_004560.4(ROR2):c.234G>A (p.Thr78=) rs141093530 0.00044
NM_004817.4(TJP2):c.2880+19C>T rs200384355 0.00044
NM_005220.3(DLX3):c.853G>A (p.Ala285Thr) rs148713638 0.00044
NM_005477.3(HCN4):c.2800C>T (p.Arg934Cys) rs199638465 0.00044
NM_005529.7(HSPG2):c.13033G>A (p.Gly4345Arg) rs148788926 0.00044
NM_007254.4(PNKP):c.672C>T (p.Arg224=) rs151180981 0.00044
NM_015346.4(ZFYVE26):c.2799C>T (p.Leu933=) rs146793500 0.00044
NM_018249.6(CDK5RAP2):c.4838G>A (p.Ser1613Asn) rs202075321 0.00044
NM_020433.5(JPH2):c.1380G>A (p.Ala460=) rs531877510 0.00044
NM_020822.3(KCNT1):c.1726G>A (p.Glu576Lys) rs147306623 0.00044
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met) rs199988872 0.00044
NM_080680.3(COL11A2):c.480T>G (p.Ser160=) rs142969513 0.00044
NM_080916.3(DGUOK):c.211C>G (p.Pro71Ala) rs184770596 0.00044
NM_153717.3(EVC):c.1653G>A (p.Pro551=) rs151293705 0.00044
NM_170682.4(P2RX2):c.947C>T (p.Thr316Met) rs150293706 0.00044
NM_182961.4(SYNE1):c.976T>C (p.Trp326Arg) rs146668256 0.00044
NM_194248.3(OTOF):c.5829C>T (p.Ser1943=) rs151005752 0.00044
NM_201384.3(PLEC):c.2704G>A (p.Asp902Asn) rs199833127 0.00044
NM_201384.3(PLEC):c.4233G>A (p.Ala1411=) rs2855760 0.00044
NM_201384.3(PLEC):c.5862C>T (p.Asn1954=) rs550994317 0.00044
NM_201384.3(PLEC):c.6099G>A (p.Ala2033=) rs375465011 0.00044
NM_207346.3(TSEN54):c.1114G>A (p.Val372Met) rs200434678 0.00044
NM_207346.3(TSEN54):c.537G>A (p.Pro179=) rs113016401 0.00044
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180 0.00043
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=) rs80359810 0.00043
NM_000168.6(GLI3):c.3829C>G (p.Gln1277Glu) rs146582871 0.00043
NM_000235.4(LIPA):c.112-9T>C rs200186130 0.00043
NM_000548.5(TSC2):c.3610+6G>A rs45517301 0.00043
NM_000709.4(BCKDHA):c.288C>T (p.His96=) rs148571328 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_001123385.2(BCOR):c.4724T>C (p.Met1575Thr) rs142595337 0.00043
NM_001128840.3(CACNA1D):c.6417C>T (p.Asp2139=) rs375811590 0.00043
NM_001130987.2(DYSF):c.4355C>T (p.Ser1452Leu) rs139411595 0.00043
NM_001142800.2(EYS):c.2309A>C (p.Gln770Pro) rs398123574 0.00043
NM_001267550.2(TTN):c.23121G>A (p.Lys7707=) rs72648971 0.00043
NM_001267550.2(TTN):c.33G>A (p.Pro11=) rs138331646 0.00043
NM_001267550.2(TTN):c.84148A>G (p.Ile28050Val) rs201348580 0.00043
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met) rs201818223 0.00043
NM_001701.4(BAAT):c.-6A>T rs181929679 0.00043
NM_002025.4(AFF2):c.1097A>G (p.His366Arg) rs199574795 0.00043
NM_002241.5(KCNJ10):c.530A>G (p.Glu177Gly) rs145947380 0.00043
NM_002471.4(MYH6):c.4905C>T (p.Asn1635=) rs143048583 0.00043
NM_004369.4(COL6A3):c.786C>T (p.Leu262=) rs111481402 0.00043
NM_004463.3(FGD1):c.281A>G (p.His94Arg) rs189159946 0.00043
NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys) rs146877597 0.00043
NM_005529.7(HSPG2):c.10187C>T (p.Ala3396Val) rs200225298 0.00043
NM_006420.3(ARFGEF2):c.4462A>T (p.Thr1488Ser) rs151221957 0.00043
NM_013382.7(POMT2):c.1404A>G (p.Lys468=) rs150491326 0.00043
NM_020975.6(RET):c.1354C>A (p.Leu452Ile) rs151148041 0.00043
NM_022437.3(ABCG8):c.97G>A (p.Asp33Asn) rs148456883 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_201384.3(PLEC):c.1545C>T (p.Pro515=) rs199968254 0.00043
NM_201384.3(PLEC):c.7062G>A (p.Ala2354=) rs375587611 0.00043
NM_207361.6(FREM2):c.2754C>T (p.Val918=) rs140353326 0.00043
NM_207391.3(RGS9BP):c.311C>T (p.Pro104Leu) rs774841433 0.00043
NM_000138.5(FBN1):c.2148A>G (p.Gly716=) rs141039922 0.00042
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser) rs202063628 0.00042
NM_000540.3(RYR1):c.9385C>T (p.Leu3129Phe) rs143445685 0.00042
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=) rs373606009 0.00042
NM_001048166.1(STIL):c.3156C>T (p.Ser1052=) rs113337758 0.00042
NM_001127701.1(SERPINA1):c.1159G>A (p.Glu387Lys) rs121912712 0.00042
NM_001161352.2(KCNMA1):c.2965C>T (p.Arg989Cys) rs143599540 0.00042
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys) rs144076460 0.00042
NM_001201543.2(FAM161A):c.1929A>G (p.Ser643=) rs369633003 0.00042
NM_001267550.2(TTN):c.21364G>A (p.Ala7122Thr) rs201394117 0.00042
NM_001267550.2(TTN):c.21548G>A (p.Cys7183Tyr) rs189951108 0.00042
NM_001267550.2(TTN):c.39044-9T>A rs184888200 0.00042
NM_001267550.2(TTN):c.55417A>G (p.Arg18473Gly) rs72646822 0.00042
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val) rs188185141 0.00042
NM_001365951.3(KIF1B):c.2551T>A (p.Leu851Met) rs139572764 0.00042
NM_001377.3(DYNC2H1):c.1966G>A (p.Gly656Arg) rs369040584 0.00042
NM_001378454.1(ALMS1):c.12438G>T (p.Arg4146=) rs35902379 0.00042
NM_001909.5(CTSD):c.75G>A (p.Pro25=) rs140563067 0.00042
NM_002335.4(LRP5):c.1585-9G>A rs202067798 0.00042
NM_002335.4(LRP5):c.2324T>C (p.Ile775Thr) rs144983823 0.00042
NM_002857.4(PEX19):c.255G>A (p.Ala85=) rs150928521 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_006031.6(PCNT):c.9594G>A (p.Thr3198=) rs143776463 0.00042
NM_014049.5(ACAD9):c.1405C>T (p.Arg469Trp) rs139145143 0.00042
NM_017739.4(POMGNT1):c.421-7C>A rs189274856 0.00042
NM_017777.4(MKS1):c.118C>T (p.His40Tyr) rs199832333 0.00042
NM_032119.4(ADGRV1):c.15608A>G (p.Glu5203Gly) rs202106463 0.00042
NM_080680.3(COL11A2):c.706C>T (p.Pro236Ser) rs35116188 0.00042
NM_133379.5(TTN):c.14806A>T (p.Thr4936Ser) rs72648909 0.00042
NM_139125.4(MASP1):c.1143T>C (p.Ser381=) rs141985299 0.00042
NM_152564.5(VPS13B):c.10313A>G (p.Asn3438Ser) rs146460917 0.00042
NM_173660.5(DOK7):c.1029C>T (p.Gly343=) rs375877997 0.00042
NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys) rs553968087 0.00042
NM_201384.3(PLEC):c.963C>T (p.Phe321=) rs368425406 0.00042
NM_000088.4(COL1A1):c.1882G>A (p.Ala628Thr) rs113950465 0.00041
NM_000137.4(FAH):c.243G>A (p.Ala81=) rs36122289 0.00041
NM_000214.3(JAG1):c.814G>A (p.Val272Ile) rs148990028 0.00041
NM_000232.5(SGCB):c.943G>A (p.Gly315Arg) rs150395645 0.00041
NM_000260.4(MYO7A):c.4066A>T (p.Ser1356Cys) rs201195495 0.00041
NM_000260.4(MYO7A):c.614T>C (p.Ile205Thr) rs200241993 0.00041
NM_000295.5(SERPINA1):c.-7A>G rs559054925 0.00041
NM_000318.3(PEX2):c.282A>T (p.Arg94Ser) rs140963177 0.00041
NM_000337.6(SGCD):c.543T>G (p.Pro181=) rs200451694 0.00041
NM_000368.5(TSC1):c.1163T>C (p.Leu388Pro) rs377598226 0.00041
NM_000396.4(CTSK):c.684C>T (p.Pro228=) rs142097792 0.00041
NM_000452.3(SLC10A2):c.415G>A (p.Gly139Arg) rs200749358 0.00041
NM_001083961.2(WDR62):c.4159C>A (p.Leu1387Ile) rs147652186 0.00041
NM_001127222.2(CACNA1A):c.978+9T>C rs111366222 0.00041
NM_001127453.2(GSDME):c.1122C>T (p.Pro374=) rs138980048 0.00041
NM_001164277.2(SLC37A4):c.1240C>T (p.Leu414=) rs200703321 0.00041
NM_001164508.2(NEB):c.539A>G (p.Lys180Arg) rs200719359 0.00041
NM_001267550.2(TTN):c.20743G>T (p.Ala6915Ser) rs201728165 0.00041
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) rs201257644 0.00041
NM_001267550.2(TTN):c.72181A>G (p.Met24061Val) rs201482015 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.93367G>C (p.Val31123Leu) rs202096200 0.00041
NM_001384474.1(LOXHD1):c.722A>G (p.Asn241Ser) rs191697915 0.00041
NM_001851.6(COL9A1):c.2159G>A (p.Arg720Gln) rs192467838 0.00041
NM_002204.4(ITGA3):c.3046-4G>A rs368305833 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_003701.4(TNFSF11):c.591C>A (p.Ser197=) rs151215329 0.00041
NM_004369.4(COL6A3):c.4103C>T (p.Thr1368Met) rs116505603 0.00041
NM_004817.4(TJP2):c.918C>T (p.Ile306=) rs374523970 0.00041
NM_005045.4(RELN):c.5822T>C (p.Val1941Ala) rs149837553 0.00041
NM_005120.3(MED12):c.381G>A (p.Thr127=) rs202125318 0.00041
NM_005670.4(EPM2A):c.235G>C (p.Gly79Arg) rs374826256 0.00041
NM_012470.4(TNPO3):c.582T>C (p.Asp194=) rs148885407 0.00041
NM_014391.3(ANKRD1):c.818T>C (p.Met273Thr) rs183061595 0.00041
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser) rs121918363 0.00041
NM_018136.5(ASPM):c.7551T>C (p.Tyr2517=) rs149228705 0.00041
NM_020631.6(PLEKHG5):c.719A>G (p.Asp240Gly) rs199794578 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_032888.4(COL27A1):c.364C>T (p.Arg122Cys) rs372265305 0.00041
NM_080680.3(COL11A2):c.1720-4G>T rs369678506 0.00041
NM_138694.4(PKHD1):c.6774A>C (p.Val2258=) rs34796823 0.00041
NM_182961.4(SYNE1):c.17640C>T (p.Arg5880=) rs144418713 0.00041
NM_182961.4(SYNE1):c.25751A>C (p.Asp8584Ala) rs41291047 0.00041
NM_182961.4(SYNE1):c.2728A>G (p.Ser910Gly) rs141214076 0.00041
NM_201384.3(PLEC):c.13111G>A (p.Ala4371Thr) rs200361523 0.00041
NM_206933.4(USH2A):c.10470G>T (p.Val3490=) rs201401001 0.00041
NM_000283.4(PDE6B):c.905G>A (p.Gly302Asp) rs146646008 0.00040
NM_000540.3(RYR1):c.6645C>T (p.Leu2215=) rs146617004 0.00040
NM_000751.3(CHRND):c.727C>T (p.Arg243Cys) rs201733876 0.00040
NM_001083961.2(WDR62):c.3058G>A (p.Ala1020Thr) rs144120866 0.00040
NM_001182.5(ALDH7A1):c.494G>C (p.Gly165Ala) rs375491094 0.00040
NM_001368067.1(LDB3):c.771G>A (p.Thr257=) rs144445130 0.00040
NM_001378454.1(ALMS1):c.1609C>G (p.Leu537Val) rs202111717 0.00040
NM_001384140.1(PCDH15):c.330C>T (p.Asn110=) rs146796009 0.00040
NM_001854.4(COL11A1):c.5198G>A (p.Arg1733His) rs140250347 0.00040
NM_003482.4(KMT2D):c.6235-6C>G rs373858319 0.00040
NM_003482.4(KMT2D):c.7078C>G (p.Pro2360Ala) rs376483324 0.00040
NM_004369.4(COL6A3):c.5839-3C>T rs112825341 0.00040
NM_004937.3(CTNS):c.561+4C>T rs111256750 0.00040
NM_006086.4(TUBB3):c.357G>A (p.Val119=) rs34174718 0.00040
NM_006363.6(SEC23B):c.519G>A (p.Val173=) rs138314893 0.00040
NM_006662.3(SRCAP):c.7853A>G (p.Asn2618Ser) rs144476508 0.00040
NM_007254.4(PNKP):c.627G>A (p.Glu209=) rs532550120 0.00040
NM_015102.5(NPHP4):c.3837C>T (p.Phe1279=) rs375237454 0.00040
NM_015295.3(SMCHD1):c.1957-3C>T rs201069969 0.00040
NM_017780.4(CHD7):c.2751G>A (p.Thr917=) rs369429961 0.00040
NM_018668.5(VPS33B):c.1207T>C (p.Leu403=) rs139655526 0.00040
NM_019066.5(MAGEL2):c.1175C>T (p.Thr392Met) rs781777662 0.00040
NM_019066.5(MAGEL2):c.1423G>T (p.Ala475Ser) rs760039339 0.00040
NM_023110.3(FGFR1):c.2278T>C (p.Leu760=) rs201490643 0.00040
NM_032119.4(ADGRV1):c.8842G>A (p.Ala2948Thr) rs369777874 0.00040
NM_130837.3(OPA1):c.2421G>T (p.Leu807=) rs148047706 0.00040
NM_138694.4(PKHD1):c.129T>C (p.Asp43=) rs201195801 0.00040
NM_153240.5(NPHP3):c.3717G>A (p.Leu1239=) rs146759786 0.00040
NM_173477.5(USH1G):c.837C>G (p.Asp279Glu) rs142486910 0.00040
NM_182961.4(SYNE1):c.13572C>T (p.Val4524=) rs111511993 0.00040
NM_182961.4(SYNE1):c.14501G>A (p.Arg4834Gln) rs141883764 0.00040
NM_194248.3(OTOF):c.4548C>T (p.Tyr1516=) rs139525746 0.00040
NM_201384.3(PLEC):c.13071C>T (p.Cys4357=) rs202153947 0.00040
NM_201384.3(PLEC):c.8613C>T (p.Cys2871=) rs35821434 0.00040
NM_206933.4(USH2A):c.2459A>G (p.Asn820Ser) rs34447581 0.00040
NM_000026.4(ADSL):c.270T>C (p.Ala90=) rs143275316 0.00039
NM_000089.4(COL1A2):c.1008C>T (p.Ala336=) rs138357977 0.00039
NM_000168.6(GLI3):c.2245A>G (p.Ile749Val) rs140048578 0.00039
NM_000195.5(HPS1):c.700C>T (p.Leu234=) rs150444975 0.00039
NM_000235.4(LIPA):c.891C>T (p.Ser297=) rs145066614 0.00039
NM_000335.5(SCN5A):c.694G>A (p.Val232Ile) rs45471994 0.00039
NM_000392.5(ABCC2):c.1007C>T (p.Thr336Met) rs149854486 0.00039
NM_000540.3(RYR1):c.12852CACGGCGGC[3] (p.4285TAA[3]) rs398123469 0.00039
NM_001018113.3(FANCB):c.1658C>T (p.Thr553Met) rs146157131 0.00039
NM_001039213.4(CEACAM16):c.869C>T (p.Thr290Met) rs61729706 0.00039
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=) rs201206239 0.00039
NM_001126121.2(SLC25A19):c.750G>A (p.Glu250=) rs147904037 0.00039
NM_001128178.3(NPHP1):c.801G>A (p.Thr267=) rs141763330 0.00039
NM_001267550.2(TTN):c.53122A>G (p.Lys17708Glu) rs185913848 0.00039
NM_001369268.1(ACAN):c.185C>A (p.Thr62Asn) rs200239326 0.00039
NM_001558.4(IL10RA):c.1260G>A (p.Ser420=) rs199604463 0.00039
NM_001853.4(COL9A3):c.1602C>T (p.Ser534=) rs146578812 0.00039
NM_002098.6(GUCA1B):c.476-3C>T rs200457582 0.00039
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser) rs138991195 0.00039
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=) rs146024732 0.00039
NM_003049.4(SLC10A1):c.994G>C (p.Gly332Arg) rs201537069 0.00039
NM_004369.4(COL6A3):c.8193A>C (p.Pro2731=) rs140441798 0.00039
NM_004999.4(MYO6):c.2836C>T (p.Arg946Cys) rs141845119 0.00039
NM_005097.4(LGI1):c.717A>C (p.Ile239=) rs146425212 0.00039
NM_005120.3(MED12):c.653C>T (p.Thr218Met) rs369083173 0.00039
NM_005529.7(HSPG2):c.7826G>A (p.Arg2609Gln) rs147286334 0.00039
NM_006420.3(ARFGEF2):c.1233C>T (p.Leu411=) rs147617265 0.00039
NM_012463.4(ATP6V0A2):c.954C>T (p.Asp318=) rs75746974 0.00039
NM_015295.3(SMCHD1):c.5024A>G (p.His1675Arg) rs201071071 0.00039
NM_022437.3(ABCG8):c.1160C>T (p.Pro387Leu) rs150654176 0.00039
NM_024408.4(NOTCH2):c.1804G>A (p.Ala602Thr) rs140311741 0.00039
NM_025074.7(FRAS1):c.9364C>T (p.Arg3122Trp) rs200346497 0.00039
NM_032119.4(ADGRV1):c.16331C>A (p.Thr5444Lys) rs370906851 0.00039
NM_032119.4(ADGRV1):c.357+8C>T rs376004946 0.00039
NM_058246.4(DNAJB6):c.831T>G (p.Ser277=) rs369098407 0.00039
NM_130837.3(OPA1):c.2610C>T (p.Thr870=) rs139934030 0.00039
NM_138694.4(PKHD1):c.12198C>T (p.His4066=) rs147051900 0.00039
NM_000088.4(COL1A1):c.740C>T (p.Pro247Leu) rs199626372 0.00038
NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=) rs139070070 0.00038
NM_000152.5(GAA):c.600C>T (p.Val200=) rs150895924 0.00038
NM_000392.5(ABCC2):c.150C>T (p.His50=) rs200595851 0.00038
NM_000392.5(ABCC2):c.3648C>A (p.Asn1216Lys) rs144967259 0.00038
NM_000440.3(PDE6A):c.1214A>G (p.Asn405Ser) rs145107955 0.00038
NM_000492.4(CFTR):c.2620-6T>C rs371315682 0.00038
NM_000493.4(COL10A1):c.1927G>A (p.Asp643Asn) rs201121404 0.00038
NM_001081.4(CUBN):c.9236+8A>G rs372673718 0.00038
NM_001083961.2(WDR62):c.82C>T (p.Arg28Trp) rs200283315 0.00038
NM_001130438.3(SPTAN1):c.4580A>G (p.Asn1527Ser) rs145038571 0.00038
NM_001130438.3(SPTAN1):c.7233C>T (p.Ser2411=) rs138985089 0.00038
NM_001164508.2(NEB):c.21751C>G (p.Gln7251Glu) rs373946758 0.00038
NM_001164508.2(NEB):c.4299+7A>G rs373926259 0.00038
NM_001170629.2(CHD8):c.5402G>A (p.Arg1801His) rs201604061 0.00038
NM_001267550.2(TTN):c.16546G>T (p.Asp5516Tyr) rs72648940 0.00038
NM_001267550.2(TTN):c.180T>C (p.Asp60=) rs144750850 0.00038
NM_001267550.2(TTN):c.21148C>T (p.Leu7050=) rs202089818 0.00038
NM_001267550.2(TTN):c.32557C>T (p.Pro10853Ser) rs201738153 0.00038
NM_001267550.2(TTN):c.34571G>A (p.Arg11524Gln) rs201622536 0.00038
NM_001267550.2(TTN):c.49413G>T (p.Trp16471Cys) rs202094100 0.00038
NM_001267550.2(TTN):c.52022G>A (p.Arg17341Gln) rs370390570 0.00038
NM_001267550.2(TTN):c.99901G>A (p.Glu33301Lys) rs72648278 0.00038
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=) rs143477661 0.00038
NM_001429.4(EP300):c.739A>G (p.Met247Val) rs147583157 0.00038
NM_002691.4(POLD1):c.13C>T (p.Arg5Trp) rs9282830 0.00038
NM_003742.4(ABCB11):c.2886A>G (p.Ala962=) rs201087979 0.00038
NM_004006.3(DMD):c.5181A>T (p.Ile1727=) rs200887855 0.00038
NM_004369.4(COL6A3):c.1056C>T (p.Leu352=) rs78365682 0.00038
NM_004369.4(COL6A3):c.1131C>T (p.Phe377=) rs189772397 0.00038
NM_004369.4(COL6A3):c.4900+9C>T rs117345850 0.00038
NM_004380.3(CREBBP):c.6661A>C (p.Met2221Leu) rs200716582 0.00038
NM_004625.4(WNT7A):c.1028C>T (p.Thr343Met) rs140491601 0.00038
NM_005045.4(RELN):c.5136G>A (p.Thr1712=) rs147933593 0.00038
NM_005476.7(GNE):c.2004C>T (p.Ser668=) rs150045137 0.00038
NM_005559.4(LAMA1):c.6845T>C (p.Ile2282Thr) rs146148365 0.00038
NM_006907.4(PYCR1):c.540C>T (p.Tyr180=) rs150914837 0.00038
NM_006946.4(SPTBN2):c.3800C>T (p.Ala1267Val) rs148065361 0.00038
NM_012232.6(CAVIN1):c.168C>A (p.Ser56Arg) rs139531639 0.00038
NM_015102.5(NPHP4):c.1478C>T (p.Pro493Leu) rs201801114 0.00038
NM_015965.7(NDUFA13):c.45C>A (p.Gly15=) rs183288709 0.00038
NM_022124.6(CDH23):c.3022G>A (p.Val1008Met) rs201053044 0.00038
NM_022356.4(P3H1):c.2152C>G (p.Pro718Ala) rs533729683 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_030665.4(RAI1):c.1941C>T (p.Ser647=) rs140198185 0.00038
NM_058246.4(DNAJB6):c.48C>T (p.Pro16=) rs150583876 0.00038
NM_138694.4(PKHD1):c.1234-9T>C rs200707468 0.00038
NM_138694.4(PKHD1):c.9402G>A (p.Lys3134=) rs143737660 0.00038
NM_173630.4(RTTN):c.1301A>C (p.Asp434Ala) rs8083708 0.00038
NM_182961.4(SYNE1):c.12564C>T (p.Ser4188=) rs141202420 0.00038
NM_182961.4(SYNE1):c.2065C>A (p.Arg689=) rs139480065 0.00038
NM_201384.3(PLEC):c.11329G>A (p.Glu3777Lys) rs538589589 0.00038
NM_201384.3(PLEC):c.12718G>A (p.Ala4240Thr) rs201688261 0.00038
NM_201384.3(PLEC):c.759C>T (p.Thr253=) rs377118309 0.00038
NM_000214.3(JAG1):c.1920C>T (p.Asn640=) rs372121353 0.00037
NM_000388.4(CASR):c.2064C>T (p.Phe688=) rs150869744 0.00037
NM_000426.4(LAMA2):c.4926A>G (p.Thr1642=) rs62421010 0.00037
NM_000492.4(CFTR):c.1766+73T>G rs397508299 0.00037
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775 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_001267550.2(TTN):c.76987G>A (p.Asp25663Asn) rs143186270 0.00037
NM_001267550.2(TTN):c.98500G>A (p.Glu32834Lys) rs199761901 0.00037
NM_001360.3(DHCR7):c.582C>T (p.Phe194=) rs150603941 0.00037
NM_001367624.2(ZNF469):c.4952A>G (p.Gln1651Arg) rs773925755 0.00037
NM_001378454.1(ALMS1):c.3375A>G (p.Val1125=) rs189914793 0.00037
NM_002529.4(NTRK1):c.*6C>T rs370807813 0.00037
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser) rs140825795 0.00037
NM_006922.4(SCN3A):c.5469T>A (p.Pro1823=) rs368608408 0.00037
NM_015295.3(SMCHD1):c.2838T>C (p.Ala946=) rs375251871 0.00037
NM_018136.5(ASPM):c.2263G>A (p.Ala755Thr) rs150852085 0.00037
NM_025114.4(CEP290):c.943-8A>T rs200729812 0.00037
NM_030973.4(MED25):c.135-6T>G rs199743509 0.00037
NM_032119.4(ADGRV1):c.9440G>A (p.Arg3147Gln) rs200792658 0.00037
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu) rs139668636 0.00037
NM_213599.3(ANO5):c.720G>T (p.Leu240=) rs147121216 0.00037
NM_000232.5(SGCB):c.768C>T (p.Ile256=) rs149121189 0.00036
NM_000463.3(UGT1A1):c.159G>A (p.Arg53=) rs149071335 0.00036
NM_000540.3(RYR1):c.1453A>G (p.Met485Val) rs147723844 0.00036
NM_001083962.2(TCF4):c.504A>G (p.Val168=) rs370160994 0.00036
NM_001130987.2(DYSF):c.3086-9C>T rs185350547 0.00036
NM_001130987.2(DYSF):c.4542C>T (p.Ile1514=) rs148055736 0.00036
NM_001134407.3(GRIN2A):c.666C>T (p.Ile222=) rs143594020 0.00036
NM_001134407.3(GRIN2A):c.741C>T (p.Gly247=) rs141912603 0.00036
NM_001145308.5(LRTOMT):c.695C>T (p.Ala232Val) rs540371915 0.00036
NM_001145809.2(MYH14):c.1115-4C>T rs142696359 0.00036
NM_001165963.4(SCN1A):c.5568G>A (p.Met1856Ile) rs144691638 0.00036
NM_001170629.2(CHD8):c.4304A>T (p.His1435Leu) rs199879706 0.00036
NM_001267550.2(TTN):c.32093G>A (p.Arg10698Gln) rs200161147 0.00036
NM_001267550.2(TTN):c.69904G>A (p.Val23302Ile) rs190421400 0.00036
NM_001267550.2(TTN):c.81899G>A (p.Arg27300His) rs55850344 0.00036
NM_001267550.2(TTN):c.92241T>C (p.Gly30747=) rs373311745 0.00036
NM_001267550.2(TTN):c.9488G>A (p.Arg3163His) rs149755500 0.00036
NM_001277115.2(DNAH11):c.13305C>T (p.Gly4435=) rs150682314 0.00036
NM_001365536.1(SCN9A):c.3684T>C (p.Tyr1228=) rs144941725 0.00036
NM_001378414.1(HDAC4):c.2190G>A (p.Thr730=) rs149067286 0.00036
NM_001378454.1(ALMS1):c.8359A>G (p.Ile2787Val) rs200075429 0.00036
NM_001378615.1(CC2D2A):c.4296T>C (p.Cys1432=) rs372671421 0.00036
NM_001851.6(COL9A1):c.1130G>A (p.Arg377His) rs142328549 0.00036
NM_001854.4(COL11A1):c.4057G>A (p.Ala1353Thr) rs151249006 0.00036
NM_001966.4(EHHADH):c.1093T>G (p.Leu365Val) rs140461295 0.00036
NM_002381.5(MATN3):c.330C>T (p.Ile110=) rs201755444 0.00036
NM_002427.4(MMP13):c.438C>T (p.Ser146=) rs17860530 0.00036
NM_002693.3(POLG):c.131A>G (p.Gln44Arg) rs757120802 0.00036
NM_003482.4(KMT2D):c.11037A>G (p.Gln3679=) rs374418866 0.00036
NM_003640.5(ELP1):c.2217A>G (p.Lys739=) rs139583037 0.00036
NM_003742.4(ABCB11):c.2907G>A (p.Lys969=) rs201881755 0.00036
NM_004006.3(DMD):c.6320G>A (p.Arg2107Gln) rs142807436 0.00036
NM_004612.4(TGFBR1):c.1433A>G (p.Asn478Ser) rs141259922 0.00036
NM_005476.7(GNE):c.1509C>G (p.Pro503=) rs141172610 0.00036
NM_005477.3(HCN4):c.2181C>T (p.His727=) rs140354126 0.00036
NM_006059.4(LAMC3):c.1019G>A (p.Arg340Gln) rs149004188 0.00036
NM_006516.4(SLC2A1):c.498C>T (p.Val166=) rs150971143 0.00036
NM_014780.5(CUL7):c.3432G>A (p.Thr1144=) rs144556973 0.00036
NM_015102.5(NPHP4):c.3612G>A (p.Pro1204=) rs374003717 0.00036
NM_017780.4(CHD7):c.6216C>G (p.Pro2072=) rs199828744 0.00036
NM_020451.3(SELENON):c.1654G>A (p.Glu552Lys) rs200128474 0.00036
NM_020549.5(CHAT):c.1087G>A (p.Glu363Lys) rs75262191 0.00036
NM_020822.3(KCNT1):c.885G>A (p.Ala295=) rs142756900 0.00036
NM_022437.3(ABCG8):c.1473A>G (p.Pro491=) rs146046068 0.00036
NM_024422.6(DSC2):c.1914G>C (p.Gln638His) rs147742157 0.00036
NM_032119.4(ADGRV1):c.1718G>T (p.Gly573Val) rs200789563 0.00036
NM_032119.4(ADGRV1):c.4032C>T (p.Tyr1344=) rs376636949 0.00036
NM_133379.5(TTN):c.13364A>G (p.Lys4455Arg) rs142304137 0.00036
NM_144672.4(OTOA):c.1173G>A (p.Ser391=) rs143326637 0.00036
NM_153240.5(NPHP3):c.2881C>G (p.Gln961Glu) rs144989330 0.00036
NM_182961.4(SYNE1):c.15657+5T>A rs199779021 0.00036
NM_194248.3(OTOF):c.5292-9C>T rs372713647 0.00036
NM_201384.3(PLEC):c.8871G>A (p.Lys2957=) rs368326361 0.00036
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000138.5(FBN1):c.1265G>A (p.Gly422Glu) rs139968089 0.00035
NM_000152.5(GAA):c.2109C>T (p.Tyr703=) rs150728610 0.00035
NM_000208.4(INSR):c.151G>A (p.Glu51Lys) rs140852238 0.00035
NM_000260.4(MYO7A):c.849+7C>G rs370740228 0.00035
NM_000492.4(CFTR):c.1920T>C (p.Phe640=) rs145877746 0.00035
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met) rs74772771 0.00035
NM_001042472.3(ABHD12):c.1041C>T (p.Ile347=) rs188888939 0.00035
NM_001083961.2(WDR62):c.2976G>A (p.Ser992=) rs757294519 0.00035
NM_001184880.2(PCDH19):c.2617-7A>G rs370859689 0.00035
NM_001242957.3(MAK):c.1405G>A (p.Glu469Lys) rs149006687 0.00035
NM_001267550.2(TTN):c.17224C>T (p.Leu5742Phe) rs72648943 0.00035
NM_001267550.2(TTN):c.2599A>G (p.Ser867Gly) rs148631577 0.00035
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr) rs200001206 0.00035
NM_001267550.2(TTN):c.63577C>T (p.Arg21193Cys) rs376800688 0.00035
NM_001267550.2(TTN):c.78892G>A (p.Gly26298Arg) rs72648205 0.00035
NM_001291303.3(FAT4):c.5367C>T (p.Ile1789=) rs144922340 0.00035
NM_001330260.2(SCN8A):c.2670C>T (p.Ala890=) rs374452942 0.00035
NM_001351132.2(PEX5):c.1707C>T (p.Leu569=) rs151312595 0.00035
NM_001365276.2(TNXB):c.2927G>A (p.Arg976His) rs200771983 0.00035
NM_001365536.1(SCN9A):c.2964C>T (p.Leu988=) rs201430964 0.00035
NM_001378120.1(MBD5):c.3842C>T (p.Thr1281Ile) rs145475623 0.00035
NM_001378452.1(ITPR1):c.7959C>T (p.Ile2653=) rs371988852 0.00035
NM_001384140.1(PCDH15):c.4320G>A (p.Pro1440=) rs12246234 0.00035
NM_001701.4(BAAT):c.403C>G (p.Pro135Ala) rs138613717 0.00035
NM_001844.5(COL2A1):c.4116C>T (p.Asn1372=) rs150237416 0.00035
NM_004006.3(DMD):c.7321A>C (p.Thr2441Pro) rs146817002 0.00035
NM_004006.3(DMD):c.9564-5A>G rs201390145 0.00035
NM_004385.5(VCAN):c.5859G>T (p.Thr1953=) rs80028865 0.00035
NM_004656.4(BAP1):c.1035G>C (p.Gly345=) rs369744075 0.00035
NM_004698.4(PRPF3):c.1032A>G (p.Thr344=) rs143350315 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_016239.4(MYO15A):c.3659G>A (p.Gly1220Glu) rs201689819 0.00035
NM_017433.5(MYO3A):c.1248A>G (p.Gln416=) rs143749728 0.00035
NM_017534.6(MYH2):c.3000G>A (p.Lys1000=) rs573063758 0.00035
NM_017739.4(POMGNT1):c.486A>G (p.Leu162=) rs138330966 0.00035
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu) rs41272437 0.00035
NM_020822.3(KCNT1):c.522G>A (p.Met174Ile) rs147551342 0.00035
NM_022124.6(CDH23):c.7468G>A (p.Glu2490Lys) rs41281336 0.00035
NM_022437.3(ABCG8):c.1436A>G (p.Tyr479Cys) rs150890296 0.00035
NM_022437.3(ABCG8):c.729C>T (p.Leu243=) rs145482605 0.00035
NM_025074.7(FRAS1):c.9627C>T (p.Tyr3209=) rs377369857 0.00035
NM_032119.4(ADGRV1):c.5295C>G (p.Phe1765Leu) rs201388114 0.00035
NM_032575.3(GLIS2):c.239A>T (p.Asp80Val) rs144447862 0.00035
NM_054027.6(ANKH):c.1141+5A>G rs187972211 0.00035
NM_201384.3(PLEC):c.10716C>T (p.Ile3572=) rs34365303 0.00035
NM_201384.3(PLEC):c.3533G>A (p.Arg1178Gln) rs782590380 0.00035
NM_201384.3(PLEC):c.8442C>T (p.Gly2814=) rs186703073 0.00035
NM_201525.4(ADGRG1):c.1356G>A (p.Thr452=) rs151020094 0.00035
NM_000057.4(BLM):c.1467G>A (p.Arg489=) rs56257041 0.00034
NM_000059.4(BRCA2):c.322A>C (p.Asn108His) rs80358567 0.00034
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_000152.5(GAA):c.2652G>A (p.Thr884=) rs143642048 0.00034
NM_000256.3(MYBPC3):c.3787C>T (p.Arg1263Trp) rs370338674 0.00034
NM_000414.4(HSD17B4):c.1138A>G (p.Ile380Val) rs137946207 0.00034
NM_000433.4(NCF2):c.93C>T (p.Ala31=) rs143889676 0.00034
NM_000466.3(PEX1):c.1360-4G>T rs199716270 0.00034
NM_000466.3(PEX1):c.939T>C (p.His313=) rs199647157 0.00034
NM_000492.4(CFTR):c.2421A>G (p.Ile807Met) rs1800103 0.00034
NM_000501.4(ELN):c.647G>T (p.Gly216Val) rs145612009 0.00034
NM_000543.5(SMPD1):c.337C>T (p.Arg113Cys) rs140202512 0.00034
NM_000548.5(TSC2):c.681C>T (p.Cys227=) rs45443205 0.00034
NM_000660.7(TGFB1):c.887G>A (p.Arg296Gln) rs200164212 0.00034
NM_000784.4(CYP27A1):c.891G>T (p.Leu297=) rs144455258 0.00034
NM_001127222.2(CACNA1A):c.4221C>T (p.Asp1407=) rs201200430 0.00034
NM_001257180.2(SLC20A2):c.846C>T (p.Asp282=) rs116122164 0.00034
NM_001267550.2(TTN):c.16515T>C (p.Ser5505=) rs201625116 0.00034
NM_001267550.2(TTN):c.27485C>T (p.Thr9162Met) rs199793620 0.00034
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys) rs199615557 0.00034
NM_001267550.2(TTN):c.75361A>G (p.Ile25121Val) rs199508062 0.00034
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=) rs139953862 0.00034
NM_001848.3(COL6A1):c.2187C>T (p.Asp729=) rs369502543 0.00034
NM_002473.6(MYH9):c.4818G>A (p.Ser1606=) rs202132383 0.00034
NM_002906.4(RDX):c.1345-7T>C rs142161673 0.00034
NM_003611.3(OFD1):c.276T>C (p.Ser92=) rs201675886 0.00034
NM_003722.5(TP63):c.678C>T (p.Arg226=) rs61732782 0.00034
NM_003742.4(ABCB11):c.930C>T (p.Phe310=) rs372382608 0.00034
NM_003977.4(AIP):c.517G>A (p.Glu173Lys) rs138902236 0.00034
NM_004006.3(DMD):c.2539A>G (p.Thr847Ala) rs138145424 0.00034
NM_006302.3(MOGS):c.499A>C (p.Arg167=) rs371747622 0.00034
NM_006790.3(MYOT):c.120T>A (p.Ile40=) rs139254363 0.00034
NM_012448.4(STAT5B):c.1569G>A (p.Arg523=) rs143172354 0.00034
NM_012463.4(ATP6V0A2):c.1458G>A (p.Ser486=) rs146156426 0.00034
NM_012470.4(TNPO3):c.275C>T (p.Thr92Ile) rs61756250 0.00034
NM_014141.6(CNTNAP2):c.387A>G (p.Gln129=) rs150607716 0.00034
NM_014780.5(CUL7):c.2682T>C (p.Ala894=) rs138043979 0.00034
NM_015102.5(NPHP4):c.2811C>T (p.Ser937=) rs758757125 0.00034
NM_020223.4(FAM20C):c.1152C>T (p.Ile384=) rs373614292 0.00034
NM_020549.5(CHAT):c.2222G>A (p.Arg741Lys) rs114719193 0.00034
NM_022124.6(CDH23):c.7049C>T (p.Ser2350Leu) rs371522435 0.00034
NM_024408.4(NOTCH2):c.4973C>T (p.Thr1658Ile) rs142462128 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_025114.4(CEP290):c.943-4C>T rs199770158 0.00034
NM_032119.4(ADGRV1):c.4507G>A (p.Ala1503Thr) rs201391886 0.00034
NM_033028.5(BBS4):c.1140G>A (p.Val380=) rs141511580 0.00034
NM_133379.5(TTN):c.15575G>A (p.Arg5192Lys) rs62179016 0.00034
NM_144991.3(TSPEAR):c.419C>A (p.Ala140Asp) rs147904376 0.00034
NM_182961.4(SYNE1):c.11218A>G (p.Thr3740Ala) rs144797744 0.00034
NM_198525.3(KIF7):c.3021C>T (p.Ile1007=) rs142488318 0.00034
NM_000260.4(MYO7A):c.5108C>T (p.Ala1703Val) rs199561332 0.00033
NM_000271.5(NPC1):c.180G>T (p.Gln60His) rs145666943 0.00033
NM_000271.5(NPC1):c.3717C>T (p.His1239=) rs34624018 0.00033
NM_000287.4(PEX6):c.-2C>G rs376675730 0.00033
NM_000335.5(SCN5A):c.2944T>C (p.Cys982Arg) rs199473182 0.00033
NM_000350.3(ABCA4):c.4401C>T (p.Ser1467=) rs188775667 0.00033
NM_000414.4(HSD17B4):c.2176C>G (p.Leu726Val) rs145728297 0.00033
NM_001039141.3(TRIOBP):c.4783C>T (p.Arg1595Cys) rs201117318 0.00033
NM_001039213.4(CEACAM16):c.1125G>A (p.Ala375=) rs373050209 0.00033
NM_001110556.2(FLNA):c.4179G>A (p.Glu1393=) rs182074603 0.00033
NM_001130987.2(DYSF):c.5333C>A (p.Pro1778Gln) rs145272777 0.00033
NM_001134407.3(GRIN2A):c.3702C>T (p.Phe1234=) rs372083517 0.00033
NM_001193315.2(VIPAS39):c.558A>G (p.Glu186=) rs148623263 0.00033
NM_001267550.2(TTN):c.31837C>G (p.Pro10613Ala) rs200213832 0.00033
NM_001267550.2(TTN):c.88090G>A (p.Gly29364Ser) rs183013408 0.00033
NM_001374353.1(GLI2):c.2251C>T (p.Leu751=) rs200831069 0.00033
NM_001851.6(COL9A1):c.2436G>T (p.Gln812His) rs141830060 0.00033
NM_002076.4(GNS):c.4C>T (p.Arg2Trp) rs200441930 0.00033
NM_002335.4(LRP5):c.144C>T (p.Ala48=) rs776920568 0.00033
NM_002857.4(PEX19):c.402T>C (p.Ser134=) rs139828188 0.00033
NM_004369.4(COL6A3):c.776C>T (p.Ala259Val) rs149924028 0.00033
NM_004369.4(COL6A3):c.9339G>A (p.Lys3113=) rs113422196 0.00033
NM_005045.4(RELN):c.9825C>T (p.Ser3275=) rs149713137 0.00033
NM_006941.4(SOX10):c.753G>A (p.Ser251=) rs376907937 0.00033
NM_012463.4(ATP6V0A2):c.522-9G>A rs189175284 0.00033
NM_013275.6(ANKRD11):c.1133A>G (p.Asn378Ser) rs202203523 0.00033
NM_017739.4(POMGNT1):c.549C>T (p.Phe183=) rs140724142 0.00033
NM_024747.6(HPS6):c.1060C>T (p.His354Tyr) rs149692177 0.00033
NM_170699.3(GPBAR1):c.562G>A (p.Val188Met) rs199637113 0.00033
NM_182914.3(SYNE2):c.15857A>G (p.Tyr5286Cys) rs149354607 0.00033
NM_201384.3(PLEC):c.7584G>A (p.Gln2528=) rs372858742 0.00033
NM_201525.4(ADGRG1):c.14C>T (p.Ser5Leu) rs147879224 0.00033
NM_000035.4(ALDOB):c.681C>T (p.Thr227=) rs61757689 0.00032
NM_000038.6(APC):c.2232T>G (p.Ser744=) rs145751759 0.00032
NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg) rs150226817 0.00032
NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr) rs138867099 0.00032
NM_000214.3(JAG1):c.2604T>C (p.Ser868=) rs138189639 0.00032
NM_000260.4(MYO7A):c.4757A>G (p.Asn1586Ser) rs201251963 0.00032
NM_000260.4(MYO7A):c.5253G>T (p.Pro1751=) rs377388669 0.00032
NM_000392.5(ABCC2):c.339G>A (p.Leu113=) rs151304543 0.00032
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=) rs140609193 0.00032
NM_000501.4(ELN):c.1358-199G>A rs781963901 0.00032
NM_000719.7(CACNA1C):c.6161A>G (p.Lys2054Arg) rs200588235 0.00032
NM_001008215.3(COA5):c.*3C>G rs372867268 0.00032
NM_001040142.2(SCN2A):c.1376A>C (p.Glu459Ala) rs184769423 0.00032
NM_001130987.2(DYSF):c.4143C>T (p.Gly1381=) rs145412880 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.26528C>T (p.Thr8843Met) rs72648990 0.00032
NM_001267550.2(TTN):c.62943T>C (p.Thr20981=) rs184863287 0.00032
NM_001267550.2(TTN):c.66673G>A (p.Asp22225Asn) rs72646870 0.00032
NM_001267550.2(TTN):c.68864G>C (p.Gly22955Ala) rs201381085 0.00032
NM_001267550.2(TTN):c.72723C>G (p.Val24241=) rs372701206 0.00032
NM_001267550.2(TTN):c.80425G>A (p.Gly26809Ser) rs369941201 0.00032
NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val) rs201490050 0.00032
NM_001267550.2(TTN):c.86526T>G (p.Val28842=) rs72648226 0.00032
NM_001292063.2(OTOG):c.7742C>T (p.Ala2581Val) rs114417076 0.00032
NM_001360.3(DHCR7):c.927C>A (p.Gly309=) rs149974099 0.00032
NM_001374385.1(ATP8B1):c.1438C>T (p.Arg480Trp) rs142231389 0.00032
NM_001384474.1(LOXHD1):c.4082G>A (p.Arg1361His) rs374474061 0.00032
NM_001457.4(FLNB):c.4061+4G>A rs370061963 0.00032
NM_001849.4(COL6A2):c.*4C>T rs370155138 0.00032
NM_001849.4(COL6A2):c.225G>T (p.Pro75=) rs143678454 0.00032
NM_002473.6(MYH9):c.1491C>T (p.Ile497=) rs146487404 0.00032
NM_003673.4(TCAP):c.60C>G (p.Ala20=) rs146502276 0.00032
NM_003722.5(TP63):c.1827A>G (p.Glu609=) rs147538847 0.00032
NM_003742.4(ABCB11):c.1254T>C (p.Gly418=) rs140138979 0.00032
NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys) rs727503828 0.00032
NM_004006.3(DMD):c.8767G>T (p.Ala2923Ser) rs116283249 0.00032
NM_005333.5(HCCS):c.521C>T (p.Ala174Val) rs367601527 0.00032
NM_005982.4(SIX1):c.402G>A (p.Lys134=) rs151189392 0.00032
NM_006922.4(SCN3A):c.3087C>G (p.Ala1029=) rs143360102 0.00032
NM_006922.4(SCN3A):c.5889T>C (p.Ser1963=) rs146624492 0.00032
NM_014324.6(AMACR):c.247+8C>G rs779779299 0.00032
NM_014425.5(INVS):c.118C>G (p.Leu40Val) rs148219510 0.00032
NM_014874.4(MFN2):c.2146G>A (p.Ala716Thr) rs144860227 0.00032
NM_015192.4(PLCB1):c.2570C>T (p.Thr857Met) rs184436336 0.00032
NM_016239.4(MYO15A):c.730G>A (p.Asp244Asn) rs199899548 0.00032
NM_021072.4(HCN1):c.240C>A (p.Gly80=) rs373664268 0.00032
NM_021098.3(CACNA1H):c.1844C>T (p.Thr615Met) rs368976749 0.00032
NM_021098.3(CACNA1H):c.3555G>A (p.Ala1185=) rs370039255 0.00032
NM_024592.5(SRD5A3):c.51G>T (p.Ala17=) rs201123766 0.00032
NM_024740.2(ALG9):c.694G>C (p.Ala232Pro) rs36111204 0.00032
NM_032119.4(ADGRV1):c.12207C>T (p.Thr4069=) rs202066007 0.00032
NM_053025.4(MYLK):c.256C>T (p.Arg86Trp) rs368822172 0.00032
NM_138694.4(PKHD1):c.333C>T (p.Phe111=) rs145815264 0.00032
NM_152564.5(VPS13B):c.1041A>G (p.Ser347=) rs149176010 0.00032
NM_152564.5(VPS13B):c.10521C>T (p.Tyr3507=) rs767239312 0.00032
NM_153033.5(KCTD7):c.273C>T (p.Ser91=) rs139585796 0.00032
NM_182961.4(SYNE1):c.24723C>G (p.His8241Gln) rs141586001 0.00032
NM_201384.3(PLEC):c.5930C>T (p.Ala1977Val) rs398123401 0.00032
NM_201384.3(PLEC):c.6495G>A (p.Ala2165=) rs201462310 0.00032
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256 0.00031
NM_000295.5(SERPINA1):c.924C>T (p.Ala308=) rs138611390 0.00031
NM_000719.7(CACNA1C):c.4641C>T (p.Asn1547=) rs202194703 0.00031
NM_001003722.2(GLE1):c.1641T>C (p.Tyr547=) rs77053118 0.00031
NM_001018113.3(FANCB):c.1371C>T (p.Val457=) rs149695930 0.00031
NM_001039213.4(CEACAM16):c.589G>A (p.Gly197Ser) rs367891074 0.00031
NM_001077365.2(POMT1):c.855+6T>C rs200692465 0.00031
NM_001083961.2(WDR62):c.203T>C (p.Ile68Thr) rs148615988 0.00031
NM_001110219.3(GJB6):c.177A>G (p.Gly59=) rs371123633 0.00031
NM_001161352.2(KCNMA1):c.1641C>T (p.Asp547=) rs149647577 0.00031
NM_001252024.2(TRPM1):c.2701-10T>A rs201747375 0.00031
NM_001267550.2(TTN):c.104277G>A (p.Lys34759=) rs377391143 0.00031
NM_001267550.2(TTN):c.1297G>A (p.Val433Ile) rs146000949 0.00031
NM_001267550.2(TTN):c.15986G>A (p.Gly5329Asp) rs202234492 0.00031
NM_001267550.2(TTN):c.26019C>T (p.His8673=) rs370266918 0.00031
NM_001267550.2(TTN):c.43690T>A (p.Ser14564Thr) rs181189778 0.00031
NM_001267550.2(TTN):c.53159T>C (p.Ile17720Thr) rs201358641 0.00031
NM_001267550.2(TTN):c.60005A>G (p.Asp20002Gly) rs199512049 0.00031
NM_001267550.2(TTN):c.70491C>T (p.Thr23497=) rs372382315 0.00031
NM_001267550.2(TTN):c.81247T>C (p.Ser27083Pro) rs186273940 0.00031
NM_001267550.2(TTN):c.84640A>G (p.Met28214Val) rs72648221 0.00031
NM_001267550.2(TTN):c.93215G>A (p.Arg31072His) rs141817409 0.00031
NM_001378615.1(CC2D2A):c.1821T>C (p.Ile607=) rs373296447 0.00031
NM_001457.4(FLNB):c.7254C>T (p.Ser2418=) rs563382903 0.00031
NM_001845.6(COL4A1):c.1588C>T (p.Pro530Ser) rs145172612 0.00031
NM_001848.3(COL6A1):c.1115A>G (p.Glu372Gly) rs149338158 0.00031
NM_001848.3(COL6A1):c.531C>T (p.Asn177=) rs767176038 0.00031
NM_002335.4(LRP5):c.1818G>A (p.Ala606=) rs148603249 0.00031
NM_002335.4(LRP5):c.3403C>T (p.Arg1135Cys) rs143396225 0.00031
NM_002474.3(MYH11):c.5275G>A (p.Val1759Ile) rs138059405 0.00031
NM_002693.3(POLG):c.3098C>T (p.Ala1033Val) rs551708243 0.00031
NM_003659.4(AGPS):c.214A>G (p.Thr72Ala) rs560217758 0.00031
NM_003995.4(NPR2):c.3087A>C (p.Gly1029=) rs138254005 0.00031
NM_004086.3(COCH):c.272G>A (p.Arg91Gln) rs188283330 0.00031
NM_004369.4(COL6A3):c.6654G>A (p.Pro2218=) rs147537071 0.00031
NM_004385.5(VCAN):c.3957C>A (p.His1319Gln) rs143393049 0.00031
NM_004994.3(MMP9):c.1591C>T (p.Leu531=) rs141884644 0.00031
NM_005559.4(LAMA1):c.8447G>A (p.Arg2816Gln) rs200996196 0.00031
NM_006086.4(TUBB3):c.507C>T (p.Val169=) rs373718068 0.00031
NM_006182.4(DDR2):c.720C>T (p.Asp240=) rs141801107 0.00031
NM_006517.5(SLC16A2):c.412C>G (p.Gln138Glu) rs145061343 0.00031
NM_014425.5(INVS):c.2278T>G (p.Ser760Ala) rs146901872 0.00031
NM_014780.5(CUL7):c.3273G>A (p.Ser1091=) rs144269675 0.00031
NM_015166.4(MLC1):c.598-9C>T rs200463656 0.00031
NM_015443.4(KANSL1):c.2725-7A>G rs186818985 0.00031
NM_016239.4(MYO15A):c.7069G>A (p.Gly2357Ser) rs201540919 0.00031
NM_018136.5(ASPM):c.2968G>A (p.Asp990Asn) rs142537154 0.00031
NM_018136.5(ASPM):c.7114A>G (p.Arg2372Gly) rs190693455 0.00031
NM_020436.5(SALL4):c.1630C>T (p.Pro544Ser) rs150402866 0.00031
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) rs370074117 0.00031
NM_022436.3(ABCG5):c.442C>T (p.Leu148=) rs143444046 0.00031
NM_032119.4(ADGRV1):c.14959G>A (p.Gly4987Arg) rs190988309 0.00031
NM_032806.6(POMGNT2):c.780A>G (p.Ser260=) rs371749889 0.00031
NM_182914.3(SYNE2):c.4910A>G (p.Tyr1637Cys) rs143578863 0.00031
NM_182961.4(SYNE1):c.19635G>T (p.Arg6545Ser) rs147143947 0.00031
NM_198239.2(CCN6):c.219A>T (p.Gly73=) rs139375158 0.00031
NM_201384.3(PLEC):c.2536G>A (p.Gly846Ser) rs189233521 0.00031
NM_201384.3(PLEC):c.8315G>A (p.Arg2772His) rs201916690 0.00031
NM_000093.5(COL5A1):c.3906+10C>T rs183881247 0.00030
NM_000180.4(GUCY2D):c.921C>T (p.Ala307=) rs148136213 0.00030
NM_000335.5(SCN5A):c.3259G>A (p.Ala1087Thr) rs369704754 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_001039141.3(TRIOBP):c.5853G>A (p.Leu1951=) rs55821172 0.00030
NM_001048166.1(STIL):c.1005A>G (p.Glu335=) rs149296029 0.00030
NM_001110556.2(FLNA):c.1691+7C>A rs199565118 0.00030
NM_001200.4(BMP2):c.891G>A (p.Lys297=) rs147542801 0.00030
NM_001267550.2(TTN):c.54207A>G (p.Pro18069=) rs372686070 0.00030
NM_001267550.2(TTN):c.63273T>C (p.Asp21091=) rs374168580 0.00030
NM_001267550.2(TTN):c.70097T>C (p.Val23366Ala) rs372782502 0.00030
NM_001267550.2(TTN):c.72001G>A (p.Ala24001Thr) rs180828370 0.00030
NM_001267550.2(TTN):c.80263T>C (p.Phe26755Leu) rs200181804 0.00030
NM_001267550.2(TTN):c.90991C>T (p.Pro30331Ser) rs75022916 0.00030
NM_001267550.2(TTN):c.93524G>A (p.Arg31175His) rs72648251 0.00030
NM_001267550.2(TTN):c.97099C>T (p.Arg32367Cys) rs202064385 0.00030
NM_001379081.2(FREM1):c.6021C>G (p.Pro2007=) rs200987019 0.00030
NM_001733.7(C1R):c.277G>T (p.Gly93Cys) rs200185988 0.00030
NM_001848.3(COL6A1):c.666C>T (p.Arg222=) rs372581026 0.00030
NM_001851.6(COL9A1):c.333C>T (p.Tyr111=) rs141047907 0.00030
NM_001927.4(DES):c.924C>T (p.Asn308=) rs578191306 0.00030
NM_004369.4(COL6A3):c.1623C>T (p.Ala541=) rs114144694 0.00030
NM_004380.3(CREBBP):c.5800T>C (p.Ser1934Pro) rs587783504 0.00030
NM_005529.7(HSPG2):c.8899G>A (p.Ala2967Thr) rs143274889 0.00030
NM_014391.3(ANKRD1):c.368C>T (p.Thr123Met) rs145387010 0.00030
NM_014491.4(FOXP2):c.50A>T (p.Gln17Leu) rs201649896 0.00030
NM_015102.5(NPHP4):c.909C>T (p.Val303=) rs201488441 0.00030
NM_016239.4(MYO15A):c.1196A>G (p.Tyr399Cys) rs368682932 0.00030
NM_017780.4(CHD7):c.5697C>G (p.Gly1899=) rs528130317 0.00030
NM_139125.4(MASP1):c.910C>A (p.Leu304Ile) rs145057248 0.00030
NM_147127.5(EVC2):c.2304G>C (p.Val768=) rs139936564 0.00030
NM_182961.4(SYNE1):c.11343C>T (p.Gly3781=) rs150121030 0.00030
NM_201384.3(PLEC):c.4469G>A (p.Arg1490Gln) rs371290504 0.00030
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile) rs369903995 0.00029
NM_000214.3(JAG1):c.2043G>A (p.Thr681=) rs151291264 0.00029
NM_000256.3(MYBPC3):c.3279C>T (p.Gly1093=) rs36212064 0.00029
NM_000260.4(MYO7A):c.2798G>A (p.Arg933His) rs201489714 0.00029
NM_000260.4(MYO7A):c.6165C>T (p.Ser2055=) rs397516327 0.00029
NM_000287.4(PEX6):c.2700C>T (p.Asn900=) rs533766104 0.00029
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_000515.5(GH1):c.597C>G (p.Val199=) rs142704768 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_001048166.1(STIL):c.152+4T>C rs368201717 0.00029
NM_001077365.2(POMT1):c.1698+10C>A rs184131819 0.00029
NM_001083962.2(TCF4):c.790-9T>C rs373434281 0.00029
NM_001127222.2(CACNA1A):c.5133+10G>A rs369033909 0.00029
NM_001136193.2(FASTKD2):c.882-3C>T rs41272661 0.00029
NM_001145809.2(MYH14):c.5452C>T (p.Arg1818Cys) rs377096949 0.00029
NM_001161352.2(KCNMA1):c.3148-8T>C rs79155047 0.00029
NM_001164508.2(NEB):c.5696C>T (p.Thr1899Ile) rs202234374 0.00029
NM_001267550.2(TTN):c.103417G>A (p.Val34473Ile) rs188917199 0.00029
NM_001267550.2(TTN):c.2686G>A (p.Val896Ile) rs376768790 0.00029
NM_001267550.2(TTN):c.27498G>A (p.Ser9166=) rs372528823 0.00029
NM_001267550.2(TTN):c.30485C>T (p.Thr10162Met) rs200593368 0.00029
NM_001267550.2(TTN):c.4208G>C (p.Arg1403Thr) rs531590921 0.00029
NM_001267550.2(TTN):c.67706G>A (p.Arg22569Gln) rs185620750 0.00029
NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr) rs201804005 0.00029
NM_001267550.2(TTN):c.75504T>G (p.Ser25168Arg) rs375204371 0.00029
NM_001267550.2(TTN):c.75682C>T (p.Pro25228Ser) rs377226540 0.00029
NM_001267550.2(TTN):c.88720C>T (p.Arg29574Cys) rs200513274 0.00029
NM_001276345.2(TNNT2):c.41+16A>G rs370729174 0.00029
NM_001378452.1(ITPR1):c.3921C>T (p.His1307=) rs61757108 0.00029
NM_001378454.1(ALMS1):c.8453C>T (p.Thr2818Ile) rs373211307 0.00029
NM_001378609.3(OTOGL):c.4518C>T (p.Asp1506=) rs187941815 0.00029
NM_001378615.1(CC2D2A):c.2844G>A (p.Arg948=) rs182369056 0.00029
NM_001384474.1(LOXHD1):c.5400-3C>T rs528236655 0.00029
NM_001848.3(COL6A1):c.1399-3C>T rs200095847 0.00029
NM_001849.4(COL6A2):c.1522-9C>T rs371576207 0.00029
NM_001851.6(COL9A1):c.2011G>A (p.Glu671Lys) rs141825151 0.00029
NM_001854.4(COL11A1):c.2014G>A (p.Asp672Asn) rs143663917 0.00029
NM_001966.4(EHHADH):c.6C>G (p.Ala2=) rs141515588 0.00029
NM_002427.4(MMP13):c.663G>A (p.Ala221=) rs143331971 0.00029
NM_002617.4(PEX10):c.316C>T (p.Leu106=) rs140340426 0.00029
NM_002693.3(POLG):c.3652C>T (p.Leu1218=) rs146301349 0.00029
NM_002834.5(PTPN11):c.48A>G (p.Ala16=) rs372736227 0.00029
NM_003322.6(TULP1):c.327C>G (p.Ala109=) rs568898016 0.00029
NM_003482.4(KMT2D):c.840-6C>T rs182926808 0.00029
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile) rs200018416 0.00029
NM_004369.4(COL6A3):c.9498C>T (p.Leu3166=) rs150376179 0.00029
NM_004380.3(CREBBP):c.2811G>A (p.Pro937=) rs146168040 0.00029
NM_004817.4(TJP2):c.3068C>T (p.Ala1023Val) rs199767035 0.00029
NM_005045.4(RELN):c.5643G>A (p.Leu1881=) rs141387255 0.00029
NM_005045.4(RELN):c.8843+3A>C rs200124755 0.00029
NM_005378.6(MYCN):c.710C>T (p.Pro237Leu) rs767711936 0.00029
NM_006005.3(WFS1):c.325C>T (p.His109Tyr) rs112871383 0.00029
NM_006019.4(TCIRG1):c.2163C>T (p.Ile721=) rs145718040 0.00029
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala) rs41286298 0.00029
NM_012301.4(MAGI2):c.2131C>A (p.Pro711Thr) rs144078604 0.00029
NM_014762.4(DHCR24):c.102C>T (p.Phe34=) rs144149165 0.00029
NM_017553.3(INO80):c.1833C>T (p.Phe611=) rs147454171 0.00029
NM_017777.4(MKS1):c.368G>A (p.Arg123Gln) rs202112856 0.00029
NM_017780.4(CHD7):c.4437G>A (p.Gly1479=) rs41265246 0.00029
NM_018451.5(CPAP):c.1513G>A (p.Glu505Lys) rs145679691 0.00029
NM_021098.3(CACNA1H):c.4488G>A (p.Ser1496=) rs377112179 0.00029
NM_022042.4(SLC26A1):c.1612C>T (p.Arg538Trp) rs143381873 0.00029
NM_022726.4(ELOVL4):c.351T>A (p.Asn117Lys) rs148018494 0.00029
NM_025265.4(TSEN2):c.309G>A (p.Arg103=) rs148549222 0.00029
NM_080605.4(B3GALT6):c.834G>A (p.Thr278=) rs368078922 0.00029
NM_080916.3(DGUOK):c.256-7C>T rs199531052 0.00029
NM_130837.3(OPA1):c.921C>T (p.Asp307=) rs147242797 0.00029
NM_133379.5(TTN):c.12204C>T (p.Gly4068=) rs144330952 0.00029
NM_138694.4(PKHD1):c.4266G>A (p.Arg1422=) rs146468152 0.00029
NM_153033.5(KCTD7):c.387C>T (p.Ala129=) rs140932942 0.00029
NM_174878.3(CLRN1):c.9C>A (p.Ser3Arg) rs187218889 0.00029
NM_176824.3(BBS7):c.1158A>G (p.Thr386=) rs146617227 0.00029
NM_182961.4(SYNE1):c.19730G>A (p.Arg6577Gln) rs150387338 0.00029
NM_182961.4(SYNE1):c.24660C>T (p.His8220=) rs150811468 0.00029
NM_201384.3(PLEC):c.1977+7G>A rs184363750 0.00029
NM_201384.3(PLEC):c.2736C>G (p.Ala912=) rs558031489 0.00029
NM_201384.3(PLEC):c.4524G>A (p.Gln1508=) rs370168097 0.00029
NM_201384.3(PLEC):c.6062C>T (p.Ala2021Val) rs367715805 0.00029
NM_201525.4(ADGRG1):c.97C>T (p.Arg33Cys) rs776480483 0.00029
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_000142.5(FGFR3):c.2396C>T (p.Pro799Leu) rs150452037 0.00028
NM_000232.5(SGCB):c.496A>G (p.Ile166Val) rs138877636 0.00028
NM_000260.4(MYO7A):c.731G>A (p.Arg244His) rs121965081 0.00028
NM_000271.5(NPC1):c.3246-8C>T rs145227129 0.00028
NM_000275.3(OCA2):c.45G>A (p.Pro15=) rs202091837 0.00028
NM_000381.4(MID1):c.1988C>T (p.Thr663Ile) rs138558359 0.00028
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=) rs1800121 0.00028
NM_000540.3(RYR1):c.3381C>T (p.Arg1127=) rs200780880 0.00028
NM_000843.4(GRM6):c.1455C>T (p.Gly485=) rs149519053 0.00028
NM_001005361.3(DNM2):c.645C>T (p.Asp215=) rs148900299 0.00028
NM_001039141.3(TRIOBP):c.483G>A (p.Glu161=) rs368119524 0.00028
NM_001110556.2(FLNA):c.2178C>T (p.Asn726=) rs371501734 0.00028
NM_001127644.2(GABRA1):c.441G>T (p.Arg147=) rs190024862 0.00028
NM_001130438.3(SPTAN1):c.2889G>A (p.Thr963=) rs34654141 0.00028
NM_001193315.2(VIPAS39):c.504+9A>G rs371762531 0.00028
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu) rs185962498 0.00028
NM_001267550.2(TTN):c.21993T>C (p.Pro7331=) rs373223049 0.00028
NM_001267550.2(TTN):c.28507G>A (p.Val9503Ile) rs202160275 0.00028
NM_001267550.2(TTN):c.53226T>C (p.Tyr17742=) rs202200861 0.00028
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala) rs200689750 0.00028
NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val) rs72646898 0.00028
NM_001278116.2(L1CAM):c.3192G>T (p.Ser1064=) rs142563956 0.00028
NM_001291867.2(NHS):c.513C>T (p.Leu171=) rs398124610 0.00028
NM_001371986.1(UNC80):c.691G>A (p.Ala231Thr) rs144011305 0.00028
NM_001844.5(COL2A1):c.2680-9C>T rs369022247 0.00028
NM_001909.5(CTSD):c.1009G>A (p.Ala337Thr) rs147800688 0.00028
NM_002180.3(IGHMBP2):c.855G>A (p.Ala285=) rs147409148 0.00028
NM_005334.3(HCFC1):c.6042C>T (p.Asn2014=) rs199953428 0.00028
NM_005378.6(MYCN):c.658G>T (p.Ala220Ser) rs745414155 0.00028
NM_005529.7(HSPG2):c.8961C>T (p.Gly2987=) rs369899077 0.00028
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) rs71539657 0.00028
NM_006031.6(PCNT):c.688C>T (p.Arg230Cys) rs143560718 0.00028
NM_013382.7(POMT2):c.806G>A (p.Ser269Asn) rs375217032 0.00028
NM_015102.5(NPHP4):c.138C>T (p.Gly46=) rs201069164 0.00028
NM_015102.5(NPHP4):c.3705C>T (p.Arg1235=) rs199925943 0.00028
NM_015404.4(WHRN):c.2203G>A (p.Val735Ile) rs373552185 0.00028
NM_017617.5(NOTCH1):c.1100-8C>T rs545088400 0.00028
NM_020779.4(WDR35):c.2964+10C>A rs201207790 0.00028
NM_022464.5(SIL1):c.1167C>T (p.Pro389=) rs199890503 0.00028
NM_031220.4(PITPNM3):c.1688C>T (p.Thr563Met) rs139119218 0.00028
NM_052845.4(MMAB):c.444G>A (p.Gly148=) rs117269384 0.00028
NM_130837.3(OPA1):c.2088G>A (p.Ala696=) rs138114609 0.00028
NM_133379.5(TTN):c.13123G>T (p.Ala4375Ser) rs72647902 0.00028
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His) rs80358359 0.00028
NM_138694.4(PKHD1):c.5235C>T (p.Phe1745=) rs187667255 0.00028
NM_144997.7(FLCN):c.1149C>T (p.Leu383=) rs150752548 0.00028
NM_170707.4(LMNA):c.192C>T (p.Thr64=) rs137969290 0.00028
NM_182961.4(SYNE1):c.18870C>T (p.Ser6290=) rs138173087 0.00028
NM_201384.3(PLEC):c.11036C>T (p.Ala3679Val) rs200060757 0.00028
NM_207346.3(TSEN54):c.984T>C (p.Ala328=) rs776960594 0.00028
NM_000023.4(SGCA):c.189C>T (p.His63=) rs373770886 0.00027
NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg) rs199875457 0.00027
NM_000260.4(MYO7A):c.2293C>A (p.Leu765Met) rs201203036 0.00027
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501 0.00027
NM_000443.4(ABCB4):c.2395-3T>C rs377462787 0.00027
NM_000443.4(ABCB4):c.3402C>T (p.Asp1134=) rs371394487 0.00027
NM_000540.3(RYR1):c.13547A>G (p.Glu4516Gly) rs149984626 0.00027
NM_001035.3(RYR2):c.649A>G (p.Ile217Val) rs200642525 0.00027
NM_001035.3(RYR2):c.8831-9A>C rs187977513 0.00027
NM_001102564.3(IFT43):c.296-5600G>C rs189153179 0.00027
NM_001103.4(ACTN2):c.1235C>T (p.Thr412Met) rs139515659 0.00027
NM_001127649.3(PEX26):c.318C>G (p.Val106=) rs142072315 0.00027
NM_001145809.2(MYH14):c.820A>G (p.Ile274Val) rs200424400 0.00027
NM_001267550.2(TTN):c.20792A>G (p.Asn6931Ser) rs200866883 0.00027
NM_001267550.2(TTN):c.26849A>G (p.Tyr8950Cys) rs199557654 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_001267550.2(TTN):c.62317C>A (p.Leu20773Met) rs375173874 0.00027
NM_001267550.2(TTN):c.88306+8T>C rs369690199 0.00027
NM_001360.3(DHCR7):c.139C>T (p.Leu47=) rs140721259 0.00027
NM_001384140.1(PCDH15):c.2908G>A (p.Val970Ile) rs138338096 0.00027
NM_001849.4(COL6A2):c.2517C>T (p.Asp839=) rs113002150 0.00027
NM_001854.4(COL11A1):c.1489-5C>A rs370997745 0.00027
NM_002334.4(LRP4):c.2815-6T>G rs372210790 0.00027
NM_002437.5(MPV17):c.156G>A (p.Leu52=) rs142493907 0.00027
NM_002617.4(PEX10):c.611G>A (p.Arg204His) rs199934621 0.00027
NM_003482.4(KMT2D):c.5124A>G (p.Thr1708=) rs374724784 0.00027
NM_003611.3(OFD1):c.54A>G (p.Glu18=) rs147114577 0.00027
NM_004369.4(COL6A3):c.7029+10C>T rs376525317 0.00027
NM_004380.3(CREBBP):c.3985C>T (p.Leu1329=) rs149055008 0.00027
NM_004727.3(SLC24A1):c.2577C>T (p.Ser859=) rs371059164 0.00027
NM_006432.5(NPC2):c.212A>G (p.Lys71Arg) rs142075589 0.00027
NM_006432.5(NPC2):c.450T>C (p.His150=) rs374489111 0.00027
NM_006445.4(PRPF8):c.5506T>C (p.Leu1836=) rs147958141 0.00027
NM_013382.7(POMT2):c.66C>T (p.Gly22=) rs200670377 0.00027
NM_014014.5(SNRNP200):c.2928G>A (p.Thr976=) rs375734152 0.00027
NM_014319.5(LEMD3):c.1330C>G (p.Pro444Ala) rs144127577 0.00027
NM_014425.5(INVS):c.67G>A (p.Val23Ile) rs145303373 0.00027
NM_020381.4(PDSS2):c.1046G>A (p.Arg349Gln) rs201388841 0.00027
NM_022124.6(CDH23):c.3301A>G (p.Ile1101Val) rs199510686 0.00027
NM_022124.6(CDH23):c.8886C>T (p.Asn2962=) rs376881824 0.00027
NM_030665.4(RAI1):c.4043C>T (p.Ala1348Val) rs143396390 0.00027
NM_032119.4(ADGRV1):c.3022+8T>C rs375286987 0.00027
NM_032322.4(RNF135):c.1009G>A (p.Asp337Asn) rs148682566 0.00027
NM_133642.5(LARGE1):c.391G>A (p.Val131Ile) rs56239539 0.00027
NM_175914.5(HNF4A):c.1321A>G (p.Ile441Val) rs147638455 0.00027
NM_182931.3(KMT2E):c.3875C>T (p.Pro1292Leu) rs144839449 0.00027
NM_182961.4(SYNE1):c.7435A>G (p.Lys2479Glu) rs188146577 0.00027
NM_194248.3(OTOF):c.3939G>A (p.Ala1313=) rs149566576 0.00027
NM_201384.3(PLEC):c.10499G>A (p.Arg3500His) rs201387815 0.00027
NM_201384.3(PLEC):c.5487C>T (p.Ala1829=) rs781998103 0.00027
NM_207122.2(EXT2):c.1645C>T (p.Leu549=) rs142565472 0.00027
NM_207361.6(FREM2):c.7062G>A (p.Thr2354=) rs41286130 0.00027
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474 0.00026
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=) rs80359788 0.00026
NM_000091.5(COL4A3):c.2848G>A (p.Val950Ile) rs200044988 0.00026
NM_000117.3(EMD):c.646G>A (p.Gly216Arg) rs147920229 0.00026
NM_000138.5(FBN1):c.4443C>T (p.Ser1481=) rs145040593 0.00026
NM_000138.5(FBN1):c.5423-4G>A rs377036485 0.00026
NM_000152.5(GAA):c.2332-10C>G rs373606162 0.00026
NM_000152.5(GAA):c.2736G>A (p.Ala912=) rs142472738 0.00026
NM_000152.5(GAA):c.32G>A (p.Arg11Gln) rs138812846 0.00026
NM_000214.3(JAG1):c.82G>C (p.Val28Leu) rs142855305 0.00026
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln) rs397515922 0.00026
NM_000335.5(SCN5A):c.5870G>A (p.Arg1957Gln) rs199473331 0.00026
NM_000388.4(CASR):c.885C>T (p.Ala295=) rs147307274 0.00026
NM_000392.5(ABCC2):c.2955G>A (p.Ala985=) rs139082536 0.00026
NM_000392.5(ABCC2):c.3057G>C (p.Gln1019His) rs144521346 0.00026
NM_000451.4(SHOX):c.86A>C (p.Lys29Thr) rs146304983 0.00026
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp) rs45517328 0.00026
NM_000548.5(TSC2):c.5068+9G>A rs45445593 0.00026
NM_001077365.2(POMT1):c.2097C>T (p.Tyr699=) rs138902646 0.00026
NM_001077418.3(TMEM231):c.79C>T (p.Leu27=) rs370607340 0.00026
NM_001101426.4(CRPPA):c.999T>C (p.Asp333=) rs376909665 0.00026
NM_001130987.2(DYSF):c.1407G>A (p.Thr469=) rs150093305 0.00026
NM_001130987.2(DYSF):c.2217-11G>A rs200853014 0.00026
NM_001164508.2(NEB):c.10341G>A (p.Met3447Ile) rs370053963 0.00026
NM_001164508.2(NEB):c.23013C>T (p.Ser7671=) rs370873040 0.00026
NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val) rs199804623 0.00026
NM_001252024.2(TRPM1):c.2485G>A (p.Glu829Lys) rs200684841 0.00026
NM_001267550.2(TTN):c.101925A>G (p.Leu33975=) rs201246720 0.00026
NM_001267550.2(TTN):c.107671G>A (p.Gly35891Ser) rs201298767 0.00026
NM_001267550.2(TTN):c.14535C>T (p.Asp4845=) rs184307461 0.00026
NM_001267550.2(TTN):c.28170C>T (p.Leu9390=) rs149910892 0.00026
NM_001267550.2(TTN):c.32071G>A (p.Ala10691Thr) rs371452173 0.00026
NM_001267550.2(TTN):c.32792A>C (p.Glu10931Ala) rs370498307 0.00026
NM_001267550.2(TTN):c.45273C>T (p.Asn15091=) rs72677223 0.00026
NM_001267550.2(TTN):c.46387G>A (p.Gly15463Arg) rs200042932 0.00026
NM_001267550.2(TTN):c.47513G>A (p.Arg15838Gln) rs199640194 0.00026
NM_001267550.2(TTN):c.52004G>A (p.Arg17335His) rs367603302 0.00026
NM_001267550.2(TTN):c.57263-4C>T rs373552048 0.00026
NM_001267550.2(TTN):c.64811G>A (p.Arg21604Gln) rs188996850 0.00026
NM_001267550.2(TTN):c.65534C>T (p.Pro21845Leu) rs201662134 0.00026
NM_001267550.2(TTN):c.69864A>G (p.Ile23288Met) rs368867993 0.00026
NM_001267550.2(TTN):c.69984G>A (p.Ala23328=) rs56052239 0.00026
NM_001267550.2(TTN):c.70492G>A (p.Gly23498Ser) rs370771532 0.00026
NM_001267550.2(TTN):c.92042C>A (p.Ala30681Asp) rs201400267 0.00026
NM_001267550.2(TTN):c.97257T>C (p.Ile32419=) rs373206096 0.00026
NM_001267550.2(TTN):c.98716G>A (p.Val32906Ile) rs182683829 0.00026
NM_001291303.3(FAT4):c.11040G>A (p.Thr3680=) rs147998041 0.00026
NM_001292063.2(OTOG):c.2385G>T (p.Gly795=) rs564595203 0.00026
NM_001367721.1(CASK):c.1186C>T (p.Pro396Ser) rs137852820 0.00026
NM_001376.5(DYNC1H1):c.7192C>T (p.Arg2398Cys) rs141525226 0.00026
NM_001378454.1(ALMS1):c.9589T>A (p.Ser3197Thr) rs369682692 0.00026
NM_001384474.1(LOXHD1):c.231C>T (p.Leu77=) rs200306249 0.00026
NM_001429.4(EP300):c.4724A>G (p.Asn1575Ser) rs144547088 0.00026
NM_001848.3(COL6A1):c.1602C>T (p.Pro534=) rs143755280 0.00026
NM_001966.4(EHHADH):c.1013A>G (p.Lys338Arg) rs141210101 0.00026
NM_002335.4(LRP5):c.4565C>T (p.Pro1522Leu) rs200624778 0.00026
NM_003042.4(SLC6A1):c.1250G>A (p.Arg417His) rs191293931 0.00026
NM_003049.4(SLC10A1):c.573G>C (p.Gly191=) rs200693940 0.00026
NM_003482.4(KMT2D):c.3906+20C>T rs375504464 0.00026
NM_004239.4(TRIP11):c.1774C>T (p.Leu592=) rs199768095 0.00026
NM_004260.4(RECQL4):c.1872C>T (p.Val624=) rs201815449 0.00026
NM_004369.4(COL6A3):c.3118G>A (p.Val1040Ile) rs78427077 0.00026
NM_004369.4(COL6A3):c.4047C>T (p.Asp1349=) rs115893145 0.00026
NM_005045.4(RELN):c.4337A>G (p.Asn1446Ser) rs115577014 0.00026
NM_005633.4(SOS1):c.698A>G (p.Asn233Ser) rs144934321 0.00026
NM_012254.3(SLC27A5):c.2070C>G (p.Leu690=) rs184994408 0.00026
NM_014425.5(INVS):c.2664T>C (p.Ser888=) rs1052867 0.00026
NM_015192.4(PLCB1):c.3607C>T (p.Leu1203=) rs150804955 0.00026
NM_015295.3(SMCHD1):c.3209T>C (p.Ile1070Thr) rs113434340 0.00026
NM_015311.3(OBSL1):c.4588C>T (p.Leu1530=) rs201893489 0.00026
NM_015404.4(WHRN):c.2237-10C>G rs200131193 0.00026
NM_017739.4(POMGNT1):c.1284+9G>C rs565797493 0.00026
NM_018136.5(ASPM):c.8966A>G (p.Tyr2989Cys) rs149690383 0.00026
NM_020822.3(KCNT1):c.2214G>A (p.Pro738=) rs142424896 0.00026
NM_022437.3(ABCG8):c.888G>T (p.Ala296=) rs143182625 0.00026
NM_022464.5(SIL1):c.984C>T (p.Leu328=) rs368666457 0.00026
NM_024408.4(NOTCH2):c.5103A>G (p.Lys1701=) rs201233415 0.00026
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg) rs370633684 0.00026
NM_031407.7(HUWE1):c.8687C>T (p.Ala2896Val) rs142574684 0.00026
NM_032119.4(ADGRV1):c.7569A>G (p.Thr2523=) rs373352597 0.00026
NM_033641.4(COL4A6):c.726A>C (p.Pro242=) rs149989161 0.00026
NM_133433.4(NIPBL):c.7728T>C (p.Tyr2576=) rs371347218 0.00026
NM_138694.4(PKHD1):c.11400G>A (p.Gly3800=) rs149427926 0.00026
NM_147196.3(TMIE):c.191C>T (p.Ser64Leu) rs189895472 0.00026
NM_153240.5(NPHP3):c.118C>T (p.Leu40=) rs374281831 0.00026
NM_153240.5(NPHP3):c.408G>A (p.Thr136=) rs141410951 0.00026
NM_181332.3(NLGN4X):c.1305G>A (p.Thr435=) rs149512448 0.00026
NM_201384.3(PLEC):c.12781G>A (p.Ala4261Thr) rs200924154 0.00026
NM_201384.3(PLEC):c.13209G>A (p.Pro4403=) rs200338374 0.00026
NM_201384.3(PLEC):c.3831C>T (p.Asn1277=) rs202217053 0.00026
NM_201384.3(PLEC):c.8762C>T (p.Thr2921Met) rs191036710 0.00026
NM_201384.3(PLEC):c.8845C>T (p.Arg2949Trp) rs202241157 0.00026
NM_201384.3(PLEC):c.9475G>A (p.Ala3159Thr) rs201030020 0.00026
NM_207361.6(FREM2):c.9009C>T (p.Val3003=) rs145657148 0.00026
NM_000057.4(BLM):c.2838A>G (p.Thr946=) rs200850440 0.00025
NM_000124.4(ERCC6):c.438C>T (p.Ser146=) rs138756386 0.00025
NM_000180.4(GUCY2D):c.271G>C (p.Ala91Pro) rs573367793 0.00025
NM_000186.4(CFH):c.3133+4C>G rs374729595 0.00025
NM_000208.4(INSR):c.1179G>A (p.Gly393=) rs140573575 0.00025
NM_000232.5(SGCB):c.495C>T (p.Asp165=) rs142801720 0.00025
NM_000232.5(SGCB):c.794C>T (p.Thr265Ile) rs116214830 0.00025
NM_000384.3(APOB):c.9639C>A (p.Asn3213Lys) rs574725520 0.00025
NM_000452.3(SLC10A2):c.132G>C (p.Leu44Phe) rs199553519 0.00025
NM_000489.6(ATRX):c.5968T>A (p.Ser1990Thr) rs142180002 0.00025
NM_000492.4(CFTR):c.3718-24G>A rs374013084 0.00025
NM_000492.4(CFTR):c.4197C>G (p.Leu1399=) rs79688066 0.00025
NM_000540.3(RYR1):c.5235G>A (p.Thr1745=) rs149471411 0.00025
NM_000546.6(TP53):c.704A>G (p.Asn235Ser) rs144340710 0.00025
NM_000719.7(CACNA1C):c.3747C>T (p.Ile1249=) rs370576211 0.00025
NM_000784.4(CYP27A1):c.148G>A (p.Val50Ile) rs149101812 0.00025
NM_000883.4(IMPDH1):c.1714G>C (p.Glu572Gln) rs150628823 0.00025
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788 0.00025
NM_001130987.2(DYSF):c.3267C>T (p.Tyr1089=) rs150355624 0.00025
NM_001164508.2(NEB):c.3637G>A (p.Val1213Ile) rs202124287 0.00025
NM_001177316.2(SLC34A3):c.1074G>A (p.Val358=) rs146097023 0.00025
NM_001199107.2(TBC1D24):c.1038C>T (p.Ser346=) rs377697825 0.00025
NM_001202.6(BMP4):c.676C>T (p.Arg226Trp) rs140590144 0.00025
NM_001267550.2(TTN):c.102190G>A (p.Ala34064Thr) rs200237973 0.00025
NM_001267550.2(TTN):c.102696C>T (p.Val34232=) rs202180775 0.00025
NM_001267550.2(TTN):c.19547A>T (p.Lys6516Met) rs199796249 0.00025
NM_001267550.2(TTN):c.48394C>T (p.Arg16132Cys) rs2303830 0.00025
NM_001267550.2(TTN):c.52656T>C (p.Pro17552=) rs371031259 0.00025
NM_001267550.2(TTN):c.57646A>G (p.Ile19216Val) rs374058726 0.00025
NM_001267550.2(TTN):c.65729T>C (p.Ile21910Thr) rs146941600 0.00025
NM_001267550.2(TTN):c.91425C>T (p.Asp30475=) rs145133144 0.00025
NM_001267550.2(TTN):c.99162G>A (p.Lys33054=) rs368686031 0.00025
NM_001371333.1(DIABLO):c.50+5C>T rs372776075 0.00025
NM_001384732.1(CPLANE1):c.3381G>C (p.Ser1127=) rs566190241 0.00025
NM_001429.4(EP300):c.5172C>A (p.Thr1724=) rs142330184 0.00025
NM_001848.3(COL6A1):c.2856C>T (p.Pro952=) rs140427635 0.00025
NM_001851.6(COL9A1):c.1634G>A (p.Arg545His) rs145698301 0.00025
NM_002473.6(MYH9):c.1479G>A (p.Gln493=) rs376262583 0.00025
NM_002473.6(MYH9):c.4225G>A (p.Asp1409Asn) rs34292387 0.00025
NM_003742.4(ABCB11):c.851T>C (p.Val284Ala) rs200739891 0.00025
NM_004369.4(COL6A3):c.4503C>T (p.Asp1501=) rs115551245 0.00025
NM_004369.4(COL6A3):c.9351C>T (p.Asp3117=) rs148821986 0.00025
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719 0.00025
NM_004700.4(KCNQ4):c.1259G>A (p.Arg420Gln) rs374078257 0.00025
NM_005476.7(GNE):c.843C>T (p.His281=) rs138694766 0.00025
NM_005802.5(TOPORS):c.2115T>C (p.Thr705=) rs372292364 0.00025
NM_005902.4(SMAD3):c.207-10G>A rs201912204 0.00025
NM_006218.4(PIK3CA):c.2985C>T (p.Ala995=) rs201884756 0.00025
NM_006922.4(SCN3A):c.2121C>T (p.Ser707=) rs370351101 0.00025
NM_012193.4(FZD4):c.118G>C (p.Glu40Gln) rs139401671 0.00025
NM_014251.3(SLC25A13):c.882T>C (p.Ala294=) rs138094550 0.00025
NM_014780.5(CUL7):c.2802C>A (p.Leu934=) rs144926293 0.00025
NM_015102.5(NPHP4):c.1632C>T (p.Ala544=) rs201903713 0.00025
NM_015910.7(WDPCP):c.1788C>T (p.Asp596=) rs185980830 0.00025
NM_022436.3(ABCG5):c.1528C>A (p.His510Asn) rs199984328 0.00025
NM_022455.5(NSD1):c.1666A>G (p.Asn556Asp) rs143571876 0.00025
NM_032119.4(ADGRV1):c.5578G>A (p.Ala1860Thr) rs369603835 0.00025
NM_033380.3(COL4A5):c.3023A>G (p.Lys1008Arg) rs142929745 0.00025
NM_138694.4(PKHD1):c.130+9G>A rs367608402 0.00025
NM_138694.4(PKHD1):c.9493G>A (p.Val3165Met) rs199621305 0.00025
NM_145239.3(PRRT2):c.1013T>C (p.Val338Ala) rs144540943 0.00025
NM_153252.5(BRWD3):c.4377A>G (p.Leu1459=) rs138240307 0.00025
NM_194248.3(OTOF):c.152C>T (p.Pro51Leu) rs150132765 0.00025
NM_201384.3(PLEC):c.5315C>T (p.Ala1772Val) rs782439290 0.00025
NM_201384.3(PLEC):c.5632C>T (p.Arg1878Trp) rs782312793 0.00025
NM_201384.3(PLEC):c.5633G>A (p.Arg1878Gln) rs373617951 0.00025
NM_201548.5(CERKL):c.60G>A (p.Glu20=) rs556744419 0.00025
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu) rs201671013 0.00024
NM_000098.3(CPT2):c.1422C>A (p.Ala474=) rs192779168 0.00024
NM_000124.4(ERCC6):c.670C>T (p.Leu224Phe) rs150935953 0.00024
NM_000214.3(JAG1):c.399G>A (p.Thr133=) rs763154396 0.00024
NM_000218.3(KCNQ1):c.386+14C>T rs370023636 0.00024
NM_000233.4(LHCGR):c.1797C>A (p.Ile599=) rs143697410 0.00024
NM_000235.4(LIPA):c.396C>G (p.Leu132=) rs201603238 0.00024
NM_000245.4(MET):c.1932C>T (p.His644=) rs45520237 0.00024
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro) rs377225516 0.00024
NM_000257.4(MYH7):c.4377G>T (p.Lys1459Asn) rs201307101 0.00024
NM_000271.5(NPC1):c.1011G>T (p.Arg337=) rs147795644 0.00024
NM_000287.4(PEX6):c.306G>T (p.Ala102=) rs727504083 0.00024
NM_000388.4(CASR):c.1110G>A (p.Val370=) rs150412204 0.00024
NM_000392.5(ABCC2):c.469-9T>C rs147614414 0.00024
NM_000452.3(SLC10A2):c.561C>G (p.Pro187=) rs139517943 0.00024
NM_000463.3(UGT1A1):c.1352C>T (p.Pro451Leu) rs114982090 0.00024
NM_000466.3(PEX1):c.2868T>A (p.Val956=) rs200663477 0.00024
NM_000702.4(ATP1A2):c.2973C>T (p.Tyr991=) rs149286529 0.00024
NM_000719.7(CACNA1C):c.2280G>A (p.Glu760=) rs141633456 0.00024
NM_001024630.4(RUNX2):c.531C>G (p.Asn177Lys) rs147359883 0.00024
NM_001038603.3(MARVELD2):c.30G>A (p.Arg10=) rs143592561 0.00024
NM_001039348.3(EFEMP1):c.1413C>T (p.Ser471=) rs374690853 0.00024
NM_001134407.3(GRIN2A):c.2165C>T (p.Thr722Met) rs376029542 0.00024
NM_001193315.2(VIPAS39):c.1071C>T (p.Asn357=) rs138544284 0.00024
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=) rs375448572 0.00024
NM_001267550.2(TTN):c.16477G>A (p.Gly5493Ser) rs377042940 0.00024
NM_001267550.2(TTN):c.33732G>A (p.Pro11244=) rs190604150 0.00024
NM_001267550.2(TTN):c.46451G>A (p.Arg15484Lys) rs72677229 0.00024
NM_001267550.2(TTN):c.59113C>T (p.Arg19705Cys) rs72646839 0.00024
NM_001267550.2(TTN):c.61409T>C (p.Ile20470Thr) rs202012910 0.00024
NM_001267550.2(TTN):c.62098A>G (p.Asn20700Asp) rs151193056 0.00024
NM_001267550.2(TTN):c.66430G>A (p.Ala22144Thr) rs183276016 0.00024
NM_001267550.2(TTN):c.70056A>G (p.Arg23352=) rs75948012 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_001267550.2(TTN):c.94633C>T (p.Arg31545Cys) rs202187398 0.00024
NM_001277115.2(DNAH11):c.3853-5C>G rs367628980 0.00024
NM_001330260.2(SCN8A):c.5577C>T (p.Ser1859=) rs185667241 0.00024
NM_001457.4(FLNB):c.3594G>A (p.Thr1198=) rs143566075 0.00024
NM_001848.3(COL6A1):c.1122C>T (p.Gly374=) rs373535692 0.00024
NM_001848.3(COL6A1):c.2045G>A (p.Arg682Gln) rs148962954 0.00024
NM_001849.4(COL6A2):c.2937C>T (p.Asp979=) rs150716220 0.00024
NM_001849.4(COL6A2):c.628G>A (p.Glu210Lys) rs113017484 0.00024
NM_001849.4(COL6A2):c.84G>A (p.Pro28=) rs140890046 0.00024
NM_002024.6(FMR1):c.420-10A>T rs781827082 0.00024
NM_002633.3(PGM1):c.1103C>T (p.Ala368Val) rs145972303 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_003193.5(TBCE):c.708T>G (p.Leu236=) rs141498084 0.00024
NM_003680.4(YARS1):c.510+10G>C rs201272488 0.00024
NM_003742.4(ABCB11):c.1396C>A (p.Gln466Lys) rs200148505 0.00024
NM_003742.4(ABCB11):c.477A>G (p.Gln159=) rs191042013 0.00024
NM_003850.3(SUCLA2):c.49C>G (p.Arg17Gly) rs200124902 0.00024
NM_004006.3(DMD):c.6052C>A (p.Leu2018Ile) rs367702968 0.00024
NM_004006.3(DMD):c.8076A>G (p.Gln2692=) rs144518527 0.00024
NM_004006.3(DMD):c.9165G>A (p.Thr3055=) rs137905486 0.00024
NM_004560.4(ROR2):c.1671G>A (p.Ser557=) rs201232887 0.00024
NM_004813.4(PEX16):c.1002T>C (p.Ser334=) rs144897515 0.00024
NM_004813.4(PEX16):c.887+9C>A rs370590743 0.00024
NM_005045.4(RELN):c.4872A>G (p.Gln1624=) rs149121159 0.00024
NM_006486.3(FBLN1):c.1074C>T (p.Asp358=) rs147528917 0.00024
NM_012301.4(MAGI2):c.411G>A (p.Thr137=) rs149568072 0.00024
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr) rs202004152 0.00024
NM_015338.6(ASXL1):c.2336C>T (p.Pro779Leu) rs41289850 0.00024
NM_017739.4(POMGNT1):c.1786-6C>T rs202028128 0.00024
NM_020754.4(ARHGAP31):c.435C>G (p.Thr145=) rs201927115 0.00024
NM_022089.4(ATP13A2):c.3258G>A (p.Ala1086=) rs377253172 0.00024
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=) rs141324814 0.00024
NM_153033.5(KCTD7):c.687T>C (p.Asp229=) rs372150992 0.00024
NM_181426.2(CCDC39):c.1035-5T>C rs200089274 0.00024
NM_182961.4(SYNE1):c.11355G>A (p.Arg3785=) rs151081036 0.00024
NM_182961.4(SYNE1):c.12225+4G>A rs770448083 0.00024
NM_182961.4(SYNE1):c.16295G>A (p.Arg5432Gln) rs200812806 0.00024
NM_201384.3(PLEC):c.12475C>T (p.Arg4159Cys) rs201069314 0.00024
NM_201384.3(PLEC):c.2268C>T (p.Thr756=) rs371267446 0.00024
NM_201384.3(PLEC):c.5149C>T (p.Arg1717Trp) rs192022872 0.00024
NM_000023.4(SGCA):c.680C>G (p.Pro227Arg) rs201131924 0.00023
NM_000033.4(ABCD1):c.249C>T (p.Phe83=) rs782628755 0.00023
NM_000214.3(JAG1):c.3280C>T (p.Arg1094Trp) rs75652750 0.00023
NM_000260.4(MYO7A):c.3038C>T (p.Thr1013Ile) rs369539923 0.00023
NM_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn) rs373147966 0.00023
NM_000382.3(ALDH3A2):c.1108-3C>T rs148944691 0.00023
NM_000393.5(COL5A2):c.322+8T>C rs372227642 0.00023
NM_000426.4(LAMA2):c.6002G>A (p.Arg2001Lys) rs151009169 0.00023
NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys) rs200524526 0.00023
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met) rs267608572 0.00023
NM_001142800.2(EYS):c.2813A>G (p.Lys938Arg) rs367857088 0.00023
NM_001142800.2(EYS):c.2971C>T (p.Leu991Phe) rs201819948 0.00023
NM_001267550.2(TTN):c.33172+4G>A rs756475184 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_001267550.2(TTN):c.6584A>G (p.Glu2195Gly) rs202032875 0.00023
NM_001267550.2(TTN):c.74844G>A (p.Lys24948=) rs371884545 0.00023
NM_001267550.2(TTN):c.94553T>C (p.Val31518Ala) rs377016580 0.00023
NM_001267550.2(TTN):c.98726T>C (p.Val32909Ala) rs368877793 0.00023
NM_001365536.1(SCN9A):c.1980G>A (p.Thr660=) rs200014315 0.00023
NM_001378120.1(MBD5):c.69G>A (p.Val23=) rs151204004 0.00023
NM_001378414.1(HDAC4):c.2151G>A (p.Gln717=) rs138137158 0.00023
NM_001378615.1(CC2D2A):c.4809C>G (p.Pro1603=) rs367841700 0.00023
NM_001384732.1(CPLANE1):c.1456G>A (p.Asp486Asn) rs374411782 0.00023
NM_001844.5(COL2A1):c.1634A>G (p.Asn545Ser) rs145042175 0.00023
NM_001844.5(COL2A1):c.3699C>T (p.Pro1233=) rs141944722 0.00023
NM_001927.4(DES):c.736-8C>A rs140375681 0.00023
NM_002653.5(PITX1):c.262A>C (p.Lys88Gln) rs200888898 0.00023
NM_003482.4(KMT2D):c.5181C>T (p.Pro1727=) rs201686029 0.00023
NM_003742.4(ABCB11):c.23G>A (p.Arg8Gln) rs368985605 0.00023
NM_003742.4(ABCB11):c.506G>A (p.Arg169His) rs200870815 0.00023
NM_004006.3(DMD):c.884G>A (p.Arg295Gln) rs377587957 0.00023
NM_004187.5(KDM5C):c.3381A>G (p.Lys1127=) rs370000816 0.00023
NM_004863.4(SPTLC2):c.851-5T>C rs199867946 0.00023
NM_005249.5(FOXG1):c.1323C>T (p.Ser441=) rs144434028 0.00023
NM_005422.4(TECTA):c.3317G>A (p.Gly1106Asp) rs144844263 0.00023
NM_005529.7(HSPG2):c.4971C>T (p.Tyr1657=) rs138459752 0.00023
NM_005676.5(RBM10):c.2175G>T (p.Pro725=) rs137940243 0.00023
NM_012418.4(FSCN2):c.867C>T (p.His289=) rs368687488 0.00023
NM_014014.5(SNRNP200):c.6082A>G (p.Ser2028Gly) rs766856664 0.00023
NM_015102.5(NPHP4):c.2142T>A (p.Ala714=) rs199912631 0.00023
NM_015192.4(PLCB1):c.714A>C (p.Pro238=) rs147567110 0.00023
NM_016356.5(DCDC2):c.222C>A (p.Ile74=) rs138670560 0.00023
NM_017780.4(CHD7):c.6711C>T (p.Ser2237=) rs370385319 0.00023
NM_018668.5(VPS33B):c.1658-7C>T rs375376103 0.00023
NM_018668.5(VPS33B):c.240-9C>T rs781107857 0.00023
NM_020822.3(KCNT1):c.474G>A (p.Ser158=) rs139076605 0.00023
NM_022124.6(CDH23):c.1595C>T (p.Thr532Met) rs201297042 0.00023
NM_022124.6(CDH23):c.9524G>A (p.Arg3175His) rs140884994 0.00023
NM_022437.3(ABCG8):c.1648G>A (p.Ala550Thr) rs149441561 0.00023
NM_024757.5(EHMT1):c.32C>T (p.Ala11Val) rs200636818 0.00023
NM_032119.4(ADGRV1):c.13153A>G (p.Ile4385Val) rs200584854 0.00023
NM_032575.3(GLIS2):c.693C>T (p.Asn231=) rs150071733 0.00023
NM_080680.3(COL11A2):c.2536C>T (p.Arg846Trp) rs149071920 0.00023
NM_080916.3(DGUOK):c.664C>T (p.Leu222=) rs375686551 0.00023
NM_138927.4(SON):c.2659G>A (p.Ala887Thr) rs370344763 0.00023
NM_152564.5(VPS13B):c.2124T>C (p.Ala708=) rs201650333 0.00023
NM_182914.3(SYNE2):c.13792G>A (p.Glu4598Lys) rs144702281 0.00023
NM_201384.3(PLEC):c.12837C>T (p.Pro4279=) rs759030267 0.00023
NM_201384.3(PLEC):c.2541C>T (p.Ser847=) rs374688294 0.00023
NM_201384.3(PLEC):c.5811G>A (p.Ala1937=) rs199990259 0.00023
NM_201384.3(PLEC):c.7061C>T (p.Ala2354Val) rs370003608 0.00023
NM_206933.4(USH2A):c.5039A>G (p.Lys1680Arg) rs150982499 0.00023
NM_000091.5(COL4A3):c.2699T>C (p.Ile900Thr) rs201665434 0.00022
NM_000137.4(FAH):c.747A>G (p.Pro249=) rs138757552 0.00022
NM_000152.5(GAA):c.1599C>T (p.Cys533=) rs142766716 0.00022
NM_000245.4(MET):c.1076G>A (p.Arg359Gln) rs201274041 0.00022
NM_000271.5(NPC1):c.471C>T (p.Tyr157=) rs145101354 0.00022
NM_000304.4(PMP22):c.320-4C>T rs377467465 0.00022
NM_000391.4(TPP1):c.7C>A (p.Leu3Ile) rs142163063 0.00022
NM_000458.4(HNF1B):c.1594A>G (p.Met532Val) rs141193981 0.00022
NM_000466.3(PEX1):c.1725G>A (p.Leu575=) rs150667796 0.00022
NM_000466.3(PEX1):c.2640T>C (p.Tyr880=) rs201719745 0.00022
NM_000492.4(CFTR):c.221G>A (p.Arg74Gln) rs142540482 0.00022
NM_000702.4(ATP1A2):c.1652-8C>T rs370023134 0.00022
NM_000875.5(IGF1R):c.1500G>A (p.Thr500=) rs370500527 0.00022
NM_001035.3(RYR2):c.892C>T (p.Arg298Cys) rs551099887 0.00022
NM_001039141.3(TRIOBP):c.1283C>G (p.Pro428Arg) rs372134073 0.00022
NM_001122630.2(CDKN1C):c.411G>A (p.Pro137=) rs878853625 0.00022
NM_001127222.2(CACNA1A):c.1395G>A (p.Ser465=) rs374307014 0.00022
NM_001127222.2(CACNA1A):c.6505C>T (p.Arg2169Cys) rs375354077 0.00022
NM_001164508.2(NEB):c.23278A>G (p.Asn7760Asp) rs201189784 0.00022
NM_001206979.2(NR1H4):c.438G>A (p.Gly146=) rs137946171 0.00022
NM_001267550.2(TTN):c.104519G>A (p.Arg34840Gln) rs199710082 0.00022
NM_001267550.2(TTN):c.19016A>G (p.Tyr6339Cys) rs192553687 0.00022
NM_001267550.2(TTN):c.32026A>G (p.Lys10676Glu) rs200952728 0.00022
NM_001267550.2(TTN):c.33340+5A>C rs373367032 0.00022
NM_001267550.2(TTN):c.33911-6_33911-5insG rs765503214 0.00022
NM_001267550.2(TTN):c.7060C>T (p.Arg2354Cys) rs145039979 0.00022
NM_001267550.2(TTN):c.84923A>C (p.Gln28308Pro) rs201674674 0.00022
NM_001267550.2(TTN):c.87448A>T (p.Ile29150Leu) rs189030321 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_001367721.1(CASK):c.356+6T>C rs200402760 0.00022
NM_001377.3(DYNC2H1):c.10043-7T>A rs376067770 0.00022
NM_001378120.1(MBD5):c.276A>G (p.Ala92=) rs141855494 0.00022
NM_001378615.1(CC2D2A):c.3480G>T (p.Leu1160=) rs771914973 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_002335.4(LRP5):c.639C>T (p.Asp213=) rs150859573 0.00022
NM_002546.4(TNFRSF11B):c.96C>T (p.Asp32=) rs4876870 0.00022
NM_002618.4(PEX13):c.142C>T (p.Leu48Phe) rs60203778 0.00022
NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser) rs758633794 0.00022
NM_004006.3(DMD):c.9287-8C>T rs371035624 0.00022
NM_004304.5(ALK):c.3291C>T (p.Cys1097=) rs370170353 0.00022
NM_004369.4(COL6A3):c.3954C>T (p.Tyr1318=) rs375909800 0.00022
NM_004565.3(PEX14):c.360A>G (p.Ala120=) rs148479162 0.00022
NM_004820.5(CYP7B1):c.522T>C (p.Ser174=) rs371522442 0.00022
NM_005477.3(HCN4):c.1459G>A (p.Val487Met) rs202037304 0.00022
NM_006017.3(PROM1):c.2271C>T (p.Ile757=) rs375986111 0.00022
NM_006019.4(TCIRG1):c.2445C>T (p.Gly815=) rs150788130 0.00022
NM_006031.6(PCNT):c.3549C>T (p.Ile1183=) rs139383288 0.00022
NM_014425.5(INVS):c.114T>C (p.Ser38=) rs114056499 0.00022
NM_014780.5(CUL7):c.981C>T (p.Pro327=) rs144880219 0.00022
NM_015311.3(OBSL1):c.1283-9G>A rs376967214 0.00022
NM_017780.4(CHD7):c.5848G>A (p.Ala1950Thr) rs201423234 0.00022
NM_017780.4(CHD7):c.7085G>A (p.Ser2362Asn) rs139876661 0.00022
NM_021971.4(GMPPB):c.1048G>A (p.Gly350Ser) rs184127567 0.00022
NM_022124.6(CDH23):c.6489G>C (p.Leu2163=) rs111033493 0.00022
NM_024408.4(NOTCH2):c.5161G>A (p.Ala1721Thr) rs115013051 0.00022
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 0.00022
NM_032119.4(ADGRV1):c.6443C>T (p.Ala2148Val) rs375921325 0.00022
NM_032119.4(ADGRV1):c.9643G>A (p.Glu3215Lys) rs199499672 0.00022
NM_130837.3(OPA1):c.3027A>C (p.Glu1009Asp) rs189036094 0.00022
NM_133379.5(TTN):c.12550G>T (p.Gly4184Cys) rs145460295 0.00022
NM_139058.3(ARX):c.336A>G (p.Ala112=) rs794727308 0.00022
NM_182961.4(SYNE1):c.13554C>T (p.Arg4518=) rs115535983 0.00022
NM_198859.4(PRICKLE2):c.2103G>T (p.Leu701=) rs200220646 0.00022
NM_201384.3(PLEC):c.2163C>T (p.Asn721=) rs374712759 0.00022
NM_201384.3(PLEC):c.3958C>T (p.Arg1320Cys) rs372256096 0.00022
NM_000088.4(COL1A1):c.1042G>A (p.Ala348Thr) rs139955975 0.00021
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr) rs143152201 0.00021
NM_000152.5(GAA):c.2152G>A (p.Val718Ile) rs141017311 0.00021
NM_000208.4(INSR):c.2665C>T (p.Arg889Trp) rs76077021 0.00021
NM_000260.4(MYO7A):c.1288C>T (p.Arg430Cys) rs201839693 0.00021
NM_000260.4(MYO7A):c.2208G>A (p.Leu736=) rs373599360 0.00021
NM_000287.4(PEX6):c.1884+3G>A rs377041406 0.00021
NM_000392.5(ABCC2):c.4348G>T (p.Ala1450Ser) rs56296335 0.00021
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995 0.00021
NM_000443.4(ABCB4):c.3000T>C (p.Ala1000=) rs1057495486 0.00021
NM_000458.4(HNF1B):c.750C>T (p.Tyr250=) rs144249535 0.00021
NM_000709.4(BCKDHA):c.1251C>T (p.Pro417=) rs147021347 0.00021
NM_000744.7(CHRNA4):c.1635G>A (p.Thr545=) rs121912283 0.00021
NM_000784.4(CYP27A1):c.609G>A (p.Ser203=) rs148132118 0.00021
NM_001037.5(SCN1B):c.632G>A (p.Cys211Tyr) rs150721582 0.00021
NM_001039141.3(TRIOBP):c.6360C>T (p.Ser2120=) rs375936342 0.00021
NM_001083961.2(WDR62):c.189G>T (p.Glu63Asp) rs201053854 0.00021
NM_001083961.2(WDR62):c.820T>G (p.Tyr274Asp) rs746156911 0.00021
NM_001130987.2(DYSF):c.4106A>G (p.Asn1369Ser) rs139529811 0.00021
NM_001134407.3(GRIN2A):c.736C>A (p.Leu246Ile) rs555768104 0.00021
NM_001193315.2(VIPAS39):c.171C>G (p.Val57=) rs144120903 0.00021
NM_001267550.2(TTN):c.17116G>A (p.Glu5706Lys) rs376593556 0.00021
NM_001267550.2(TTN):c.18407G>A (p.Arg6136Gln) rs117551279 0.00021
NM_001267550.2(TTN):c.21656C>T (p.Ser7219Phe) rs201029552 0.00021
NM_001267550.2(TTN):c.28644G>A (p.Thr9548=) rs376744914 0.00021
NM_001267550.2(TTN):c.39301G>A (p.Glu13101Lys) rs201035457 0.00021
NM_001267550.2(TTN):c.5464A>C (p.Met1822Leu) rs201581947 0.00021
NM_001267550.2(TTN):c.58363G>A (p.Gly19455Ser) rs191927501 0.00021
NM_001267550.2(TTN):c.62280T>C (p.Val20760=) rs372065796 0.00021
NM_001267550.2(TTN):c.7957T>C (p.Leu2653=) rs201837864 0.00021
NM_001267550.2(TTN):c.88984G>A (p.Gly29662Ser) rs187460377 0.00021
NM_001278116.2(L1CAM):c.963C>T (p.Ala321=) rs145823218 0.00021
NM_001378120.1(MBD5):c.2010C>G (p.Leu670=) rs371014306 0.00021
NM_001458.5(FLNC):c.2733G>A (p.Lys911=) rs374135903 0.00021
NM_001492.6(GDF1):c.485G>A (p.Gly162Asp) rs121434424 0.00021
NM_001701.4(BAAT):c.1173C>T (p.His391=) rs113673597 0.00021
NM_002437.5(MPV17):c.31C>T (p.Leu11=) rs540291444 0.00021
NM_002618.4(PEX13):c.354T>C (p.Phe118=) rs143378216 0.00021
NM_002693.3(POLG):c.2149C>T (p.Leu717=) rs779515404 0.00021
NM_004006.3(DMD):c.3951G>A (p.Glu1317=) rs199643655 0.00021
NM_004369.4(COL6A3):c.3040A>G (p.Lys1014Glu) rs114284669 0.00021
NM_004369.4(COL6A3):c.759C>T (p.Thr253=) rs376087730 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_005045.4(RELN):c.8863C>T (p.Arg2955Cys) rs114501042 0.00021
NM_005609.4(PYGM):c.1143G>A (p.Leu381=) rs143401208 0.00021
NM_006005.3(WFS1):c.975C>T (p.Asn325=) rs141177727 0.00021
NM_006019.4(TCIRG1):c.1615G>A (p.Val539Ile) rs142539969 0.00021
NM_006329.4(FBLN5):c.621T>C (p.Asp207=) rs200178859 0.00021
NM_006922.4(SCN3A):c.3933T>C (p.Pro1311=) rs138766015 0.00021
NM_006922.4(SCN3A):c.4335T>C (p.Tyr1445=) rs145492863 0.00021
NM_006922.4(SCN3A):c.5825A>G (p.Gln1942Arg) rs149264761 0.00021
NM_006950.3(SYN1):c.1569G>A (p.Ala523=) rs587781185 0.00021
NM_014000.3(VCL):c.590C>T (p.Thr197Ile) rs189242810 0.00021
NM_015102.5(NPHP4):c.1440G>A (p.Ser480=) rs374690894 0.00021
NM_015295.3(SMCHD1):c.1608A>G (p.Lys536=) rs72862973 0.00021
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=) rs61743849 0.00021
NM_018100.4(EFHC1):c.1675T>C (p.Leu559=) rs145194882 0.00021
NM_018136.5(ASPM):c.8452G>T (p.Ala2818Ser) rs188955444 0.00021
NM_020223.4(FAM20C):c.1299G>A (p.Pro433=) rs568534039 0.00021
NM_020754.4(ARHGAP31):c.2323G>A (p.Gly775Ser) rs147415811 0.00021
NM_022437.3(ABCG8):c.322+6G>A rs181319879 0.00021
NM_022455.5(NSD1):c.1635G>A (p.Thr545=) rs371958844 0.00021
NM_024301.5(FKRP):c.885C>T (p.Arg295=) rs769005880 0.00021
NM_024596.5(MCPH1):c.1752A>G (p.Pro584=) rs372450763 0.00021
NM_025193.4(HSD3B7):c.695-5G>A rs201111173 0.00021
NM_031220.4(PITPNM3):c.1124C>T (p.Pro375Leu) rs138671220 0.00021
NM_033380.3(COL4A5):c.3296C>T (p.Ser1099Phe) rs767087695 0.00021
NM_138694.4(PKHD1):c.8554+3A>G rs370312392 0.00021
NM_153676.4(USH1C):c.513C>T (p.Pro171=) rs199739341 0.00021
NM_182914.3(SYNE2):c.12903C>T (p.Gly4301=) rs148708516 0.00021
NM_182961.4(SYNE1):c.11253+9G>A rs368012172 0.00021
NM_182961.4(SYNE1):c.16296G>A (p.Arg5432=) rs144376043 0.00021
NM_182961.4(SYNE1):c.19927T>C (p.Leu6643=) rs143118084 0.00021
NM_182961.4(SYNE1):c.2569-8C>T rs376033376 0.00021
NM_182961.4(SYNE1):c.3850C>T (p.Arg1284Trp) rs140780725 0.00021
NM_198428.3(BBS9):c.771A>G (p.Ala257=) rs145007686 0.00021
NM_198525.3(KIF7):c.612C>T (p.His204=) rs398124613 0.00021
NM_201384.3(PLEC):c.11634G>A (p.Ser3878=) rs375097273 0.00021
NM_201384.3(PLEC):c.2785C>T (p.Leu929=) rs369676162 0.00021
NM_201384.3(PLEC):c.6605A>G (p.Lys2202Arg) rs201928401 0.00021
NM_201384.3(PLEC):c.7686C>T (p.Ala2562=) rs534269714 0.00021
NM_201384.3(PLEC):c.8041G>A (p.Glu2681Lys) rs200128670 0.00021
NM_201384.3(PLEC):c.9929C>T (p.Ala3310Val) rs183230983 0.00021
NM_201548.5(CERKL):c.900T>C (p.His300=) rs183252158 0.00021
NM_000059.4(BRCA2):c.6803G>A (p.Arg2268Lys) rs80358906 0.00020
NM_000070.3(CAPN3):c.1668C>T (p.Ile556=) rs199884116 0.00020
NM_000152.5(GAA):c.1888+10_1888+11insC rs748036956 0.00020
NM_000168.6(GLI3):c.3762T>C (p.Tyr1254=) rs148043302 0.00020
NM_000182.5(HADHA):c.2175C>T (p.Gly725=) rs375399631 0.00020
NM_000202.8(IDS):c.104A>G (p.Asp35Gly) rs144081417 0.00020
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418 0.00020
NM_000391.4(TPP1):c.796C>T (p.Arg266Trp) rs200138397 0.00020
NM_000393.5(COL5A2):c.2103C>T (p.Pro701=) rs376612765 0.00020
NM_000426.4(LAMA2):c.2304C>T (p.Asp768=) rs142126511 0.00020
NM_000540.3(RYR1):c.13680T>C (p.Phe4560=) rs377664510 0.00020
NM_001128178.3(NPHP1):c.771+2C>T rs189320299 0.00020
NM_001128225.3(SLC39A13):c.888C>T (p.Phe296=) rs150556863 0.00020
NM_001170629.2(CHD8):c.4921+5G>A rs377595194 0.00020
NM_001252024.2(TRPM1):c.4681C>T (p.Pro1561Ser) rs183837653 0.00020
NM_001267550.2(TTN):c.102520G>A (p.Val34174Ile) rs200430493 0.00020
NM_001267550.2(TTN):c.14424G>C (p.Val4808=) rs374479775 0.00020
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His) rs373355159 0.00020
NM_001267550.2(TTN):c.62424C>T (p.Asp20808=) rs374472044 0.00020
NM_001267550.2(TTN):c.83133G>A (p.Lys27711=) rs369223412 0.00020
NM_001267550.2(TTN):c.87623A>T (p.Tyr29208Phe) rs201831707 0.00020
NM_001267550.2(TTN):c.93244G>A (p.Glu31082Lys) rs199663613 0.00020
NM_001267550.2(TTN):c.98826C>G (p.Asp32942Glu) rs190967471 0.00020
NM_001291415.2(KDM6A):c.2212C>T (p.Pro738Ser) rs200638114 0.00020
NM_001365536.1(SCN9A):c.4110T>C (p.Cys1370=) rs199673396 0.00020
NM_001374353.1(GLI2):c.4506C>T (p.Gly1502=) rs200499325 0.00020
NM_001378120.1(MBD5):c.599G>A (p.Arg200Gln) rs149278000 0.00020
NM_001378454.1(ALMS1):c.280C>T (p.Pro94Ser) rs775431837 0.00020
NM_001378454.1(ALMS1):c.3092C>G (p.Thr1031Ser) rs199922877 0.00020
NM_001793.6(CDH3):c.918C>T (p.Asp306=) rs201521473 0.00020
NM_001848.3(COL6A1):c.2601C>T (p.Pro867=) rs200124802 0.00020
NM_001849.4(COL6A2):c.759A>G (p.Glu253=) rs140404854 0.00020
NM_001966.4(EHHADH):c.1938T>G (p.Ile646Met) rs140527463 0.00020
NM_002968.3(SALL1):c.3750C>T (p.Asn1250=) rs142653419 0.00020
NM_004369.4(COL6A3):c.1146G>A (p.Gln382=) rs368800027 0.00020
NM_004415.4(DSP):c.8467C>G (p.Pro2823Ala) rs142717240 0.00020
NM_004820.5(CYP7B1):c.90C>T (p.Leu30=) rs571177831 0.00020
NM_005249.5(FOXG1):c.456G>T (p.Gly152=) rs587783637 0.00020
NM_005881.4(BCKDK):c.1185C>T (p.Asp395=) rs141335706 0.00020
NM_006915.3(RP2):c.30G>A (p.Lys10=) rs782402689 0.00020
NM_007294.4(BRCA1):c.1459G>T (p.Val487Phe) rs369588942 0.00020
NM_014467.3(SRPX2):c.693C>A (p.His231Gln) rs142719253 0.00020
NM_015335.5(MED13L):c.3866C>T (p.Pro1289Leu) rs200187663 0.00020
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=) rs202133782 0.00020
NM_018136.5(ASPM):c.7428G>T (p.Lys2476Asn) rs200654820 0.00020
NM_018136.5(ASPM):c.8228G>A (p.Arg2743Gln) rs202193200 0.00020
NM_024009.3(GJB3):c.547G>A (p.Glu183Lys) rs74315318 0.00020
NM_025114.4(CEP290):c.1729C>T (p.Leu577=) rs201295052 0.00020
NM_032119.4(ADGRV1):c.10550-7C>T rs191228562 0.00020
NM_032119.4(ADGRV1):c.12349C>T (p.Arg4117Cys) rs138908576 0.00020
NM_133379.5(TTN):c.16020T>C (p.His5340=) rs200378944 0.00020
NM_138694.4(PKHD1):c.7170T>C (p.Thr2390=) rs368101035 0.00020
NM_153240.5(NPHP3):c.3336T>C (p.Ala1112=) rs188431787 0.00020
NM_182961.4(SYNE1):c.15568C>G (p.Gln5190Glu) rs138368397 0.00020
NM_182961.4(SYNE1):c.20142C>T (p.Ser6714=) rs201908045 0.00020
NM_182961.4(SYNE1):c.3669+4C>G rs376511242 0.00020
NM_198904.4(GABRG2):c.1320G>A (p.Gly440=) rs150727562 0.00020
NM_201384.3(PLEC):c.11031C>T (p.Leu3677=) rs376779580 0.00020
NM_201384.3(PLEC):c.4076G>A (p.Arg1359His) rs574482100 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_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn) rs80358782 0.00019
NM_000152.5(GAA):c.693-4G>T rs200088236 0.00019
NM_000180.4(GUCY2D):c.1499C>T (p.Pro500Leu) rs200211315 0.00019
NM_000214.3(JAG1):c.1348+3G>A rs368718180 0.00019
NM_000238.4(KCNH2):c.2948C>T (p.Thr983Ile) rs149955375 0.00019
NM_000251.3(MSH2):c.481G>A (p.Val161Ile) rs149511545 0.00019
NM_000263.4(NAGLU):c.1322C>T (p.Thr441Met) rs138695961 0.00019
NM_000271.5(NPC1):c.3591C>T (p.Ser1197=) rs191776973 0.00019
NM_000288.4(PEX7):c.188+3A>G rs200234391 0.00019
NM_000295.5(SERPINA1):c.-4G>A rs374417614 0.00019
NM_000303.3(PMM2):c.90C>G (p.Asp30Glu) rs201556985 0.00019
NM_000392.5(ABCC2):c.2499T>C (p.Val833=) rs75148532 0.00019
NM_000414.4(HSD17B4):c.1311C>T (p.Ser437=) rs369449821 0.00019
NM_000443.4(ABCB4):c.3111T>C (p.Asn1037=) rs8187808 0.00019
NM_000458.4(HNF1B):c.1668C>A (p.Ala556=) rs144354798 0.00019
NM_000540.3(RYR1):c.2160C>G (p.Leu720=) rs200914778 0.00019
NM_000541.5(SAG):c.1167T>A (p.Asp389Glu) rs199798289 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.1434C>T (p.Gly478=) rs139279260 0.00019
NM_000784.4(CYP27A1):c.789C>T (p.Pro263=) rs143600636 0.00019
NM_001044.5(SLC6A3):c.1515C>T (p.Ser505=) rs114563841 0.00019
NM_001083614.2(EARS2):c.280A>G (p.Met94Val) rs200139797 0.00019
NM_001101426.4(CRPPA):c.531C>T (p.His177=) rs376195897 0.00019
NM_001110556.2(FLNA):c.3285C>T (p.Ala1095=) rs199530601 0.00019
NM_001128178.3(NPHP1):c.867A>G (p.Gln289=) rs371112962 0.00019
NM_001130438.3(SPTAN1):c.5106G>A (p.Leu1702=) rs373491498 0.00019
NM_001161352.2(KCNMA1):c.1287G>T (p.Leu429=) rs147378590 0.00019
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile) rs146878122 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_001194998.2(CEP152):c.2920C>A (p.Gln974Lys) rs370745843 0.00019
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) rs368321767 0.00019
NM_001267550.2(TTN):c.101262A>G (p.Gly33754=) rs374878689 0.00019
NM_001267550.2(TTN):c.105128G>A (p.Arg35043His) rs370137295 0.00019
NM_001267550.2(TTN):c.17871A>T (p.Gln5957His) rs181067357 0.00019
NM_001267550.2(TTN):c.21721G>A (p.Val7241Ile) rs367854582 0.00019
NM_001267550.2(TTN):c.23387G>A (p.Arg7796Gln) rs267599059 0.00019
NM_001267550.2(TTN):c.23455G>C (p.Glu7819Gln) rs201420077 0.00019
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln) rs200831060 0.00019
NM_001267550.2(TTN):c.3133G>A (p.Val1045Met) rs72647868 0.00019
NM_001267550.2(TTN):c.39548-8A>G rs369594816 0.00019
NM_001267550.2(TTN):c.5645G>A (p.Arg1882His) rs374605213 0.00019
NM_001267550.2(TTN):c.58576G>A (p.Val19526Ile) rs377682563 0.00019
NM_001267550.2(TTN):c.89314G>A (p.Glu29772Lys) rs200503016 0.00019
NM_001267550.2(TTN):c.94623C>T (p.Tyr31541=) rs376539252 0.00019
NM_001267550.2(TTN):c.99560A>C (p.Lys33187Thr) rs560306385 0.00019
NM_001282531.3(ADNP):c.1063G>A (p.Ala355Thr) rs200625964 0.00019
NM_001330078.2(NRXN1):c.3129A>G (p.Val1043=) rs200698497 0.00019
NM_001360.3(DHCR7):c.729C>T (p.Pro243=) rs145284180 0.00019
NM_001360.3(DHCR7):c.99-5C>T rs372886043 0.00019
NM_001360016.2(G6PD):c.486-14C>T rs200833520 0.00019
NM_001360016.2(G6PD):c.864+17A>T rs377041776 0.00019
NM_001365536.1(SCN9A):c.4495C>A (p.Arg1499=) rs187558439 0.00019
NM_001374385.1(ATP8B1):c.555-3T>C rs367948617 0.00019
NM_001384140.1(PCDH15):c.4672-1564T>C rs193186244 0.00019
NM_001384732.1(CPLANE1):c.221C>T (p.Ala74Val) rs139496915 0.00019
NM_001849.4(COL6A2):c.2961G>A (p.Thr987=) rs149845431 0.00019
NM_001927.4(DES):c.635G>A (p.Arg212Gln) rs144261171 0.00019
NM_001966.4(EHHADH):c.77C>T (p.Thr26Met) rs138013408 0.00019
NM_002206.3(ITGA7):c.1317C>T (p.Phe439=) rs200714716 0.00019
NM_003482.4(KMT2D):c.2214C>T (p.Ser738=) rs201219613 0.00019
NM_003482.4(KMT2D):c.8382C>A (p.Gly2794=) rs368967997 0.00019
NM_003722.5(TP63):c.504C>T (p.Asn168=) rs141278696 0.00019
NM_003737.4(DCHS1):c.7846C>G (p.Pro2616Ala) rs150354113 0.00019
NM_003742.4(ABCB11):c.2036C>T (p.Ala679Val) rs200912109 0.00019
NM_004006.3(DMD):c.6471T>A (p.Thr2157=) rs377080659 0.00019
NM_004006.3(DMD):c.7521C>T (p.Asn2507=) rs112516305 0.00019
NM_004086.3(COCH):c.198A>T (p.Val66=) rs28400029 0.00019
NM_004369.4(COL6A3):c.4146G>A (p.Ser1382=) rs114791158 0.00019
NM_004369.4(COL6A3):c.9444C>T (p.Asn3148=) rs144291325 0.00019
NM_004415.4(DSP):c.3862A>C (p.Lys1288Gln) rs138907450 0.00019
NM_004482.4(GALNT3):c.51T>C (p.His17=) rs149612790 0.00019
NM_004560.4(ROR2):c.568A>G (p.Thr190Ala) rs34574788 0.00019
NM_004698.4(PRPF3):c.501A>G (p.Thr167=) rs146995242 0.00019
NM_004977.3(KCNC3):c.1429G>A (p.Asp477Asn) rs148033381 0.00019
NM_005045.4(RELN):c.4260G>A (p.Gly1420=) rs150518726 0.00019
NM_005055.5(RAPSN):c.1203C>T (p.Asn401=) rs757215612 0.00019
NM_005548.3(KARS1):c.482+8G>A rs377697859 0.00019
NM_006261.5(PROP1):c.96G>A (p.Pro32=) rs144314831 0.00019
NM_006790.3(MYOT):c.323A>C (p.Asn108Thr) rs142416150 0.00019
NM_014714.4(IFT140):c.2787G>A (p.Thr929=) rs374661866 0.00019
NM_015910.7(WDPCP):c.13T>C (p.Phe5Leu) rs768802269 0.00019
NM_016366.3(CABP2):c.345C>A (p.Thr115=) rs376093439 0.00019
NM_017777.4(MKS1):c.1176G>A (p.Pro392=) rs775169308 0.00019
NM_017777.4(MKS1):c.1408-3C>T rs377033273 0.00019
NM_017780.4(CHD7):c.1046A>G (p.Asn349Ser) rs200644351 0.00019
NM_017780.4(CHD7):c.8190G>A (p.Ala2730=) rs371898908 0.00019
NM_017780.4(CHD7):c.8366C>T (p.Ala2789Val) rs376934539 0.00019
NM_019098.5(CNGB3):c.1898A>G (p.Asp633Gly) rs139337746 0.00019
NM_021625.5(TRPV4):c.2559C>T (p.Cys853=) rs139580010 0.00019
NM_022455.5(NSD1):c.6464-5T>C rs545039997 0.00019
NM_022455.5(NSD1):c.6464-8G>T rs577262396 0.00019
NM_032119.4(ADGRV1):c.10697T>C (p.Ile3566Thr) rs201483312 0.00019
NM_032119.4(ADGRV1):c.12350G>A (p.Arg4117His) rs202067248 0.00019
NM_032119.4(ADGRV1):c.16640G>A (p.Arg5547His) rs200907244 0.00019
NM_032119.4(ADGRV1):c.2734+8A>G rs371906040 0.00019
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe) rs193030567 0.00019
NM_170699.3(GPBAR1):c.531C>T (p.Ala177=) rs200360810 0.00019
NM_178170.3(NEK8):c.294C>G (p.Ser98=) rs140255077 0.00019
NM_181303.2(NLGN3):c.20C>T (p.Pro7Leu) rs199925687 0.00019
NM_182961.4(SYNE1):c.10475G>A (p.Arg3492His) rs148522587 0.00019
NM_182961.4(SYNE1):c.13768A>G (p.Asn4590Asp) rs199761238 0.00019
NM_182961.4(SYNE1):c.16182T>G (p.Ser5394=) rs146705789 0.00019
NM_182961.4(SYNE1):c.18480C>T (p.Asp6160=) rs142251671 0.00019
NM_194248.3(OTOF):c.2848G>A (p.Val950Ile) rs199613764 0.00019
NM_194248.3(OTOF):c.327+10C>A rs377042002 0.00019
NM_194318.4(B3GLCT):c.1104C>T (p.Ser368=) rs114425388 0.00019
NM_198525.3(KIF7):c.2586C>T (p.Arg862=) rs141097070 0.00019
NM_201384.3(PLEC):c.11574G>A (p.Thr3858=) rs370526712 0.00019
NM_201384.3(PLEC):c.12216C>T (p.Phe4072=) rs150427959 0.00019
NM_201384.3(PLEC):c.8644C>T (p.Leu2882=) rs376081492 0.00019
NM_201384.3(PLEC):c.8742C>T (p.Phe2914=) rs201211875 0.00019
NM_000023.4(SGCA):c.80C>T (p.Thr27Met) rs565069721 0.00018
NM_000145.4(FSHR):c.312G>A (p.Lys104=) rs147355964 0.00018
NM_000152.5(GAA):c.2253C>T (p.Leu751=) rs140441758 0.00018
NM_000392.5(ABCC2):c.1950G>A (p.Ser650=) rs138673546 0.00018
NM_000393.5(COL5A2):c.3209G>A (p.Arg1070His) rs373288848 0.00018
NM_000451.4(SHOX):c.577G>A (p.Ala193Thr) rs376330042 0.00018
NM_000540.3(RYR1):c.8733C>A (p.Leu2911=) rs200427576 0.00018
NM_000702.4(ATP1A2):c.1666A>T (p.Asn556Tyr) rs141467566 0.00018
NM_001035.3(RYR2):c.3356G>A (p.Arg1119His) rs201312753 0.00018
NM_001130987.2(DYSF):c.2257C>A (p.His753Asn) rs202123283 0.00018
NM_001130987.2(DYSF):c.316C>T (p.Leu106=) rs374934430 0.00018
NM_001164508.2(NEB):c.24520G>A (p.Ala8174Thr) rs199937246 0.00018
NM_001244008.2(KIF1A):c.4554C>T (p.Ser1518=) rs775395101 0.00018
NM_001267550.2(TTN):c.100432T>G (p.Trp33478Gly) rs372304158 0.00018
NM_001267550.2(TTN):c.12145C>T (p.Pro4049Ser) rs201888760 0.00018
NM_001267550.2(TTN):c.13262A>G (p.Asn4421Ser) rs72648922 0.00018
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu) rs55906845 0.00018
NM_001267550.2(TTN):c.23965C>T (p.Arg7989Cys) rs201653851 0.00018
NM_001267550.2(TTN):c.26935A>C (p.Asn8979His) rs376982715 0.00018
NM_001267550.2(TTN):c.30511+3G>A rs563582627 0.00018
NM_001267550.2(TTN):c.3069C>T (p.Thr1023=) rs371447978 0.00018
NM_001267550.2(TTN):c.43577G>A (p.Arg14526Gln) rs373491468 0.00018
NM_001267550.2(TTN):c.58397G>C (p.Gly19466Ala) rs201922910 0.00018
NM_001267550.2(TTN):c.58971A>C (p.Glu19657Asp) rs200728232 0.00018
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr) rs72646853 0.00018
NM_001267550.2(TTN):c.80555G>A (p.Arg26852His) rs202149931 0.00018
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr) rs200766837 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_001287.6(CLCN7):c.558C>T (p.Phe186=) rs147280414 0.00018
NM_001330078.2(NRXN1):c.1700T>G (p.Leu567Trp) rs372311299 0.00018
NM_001365536.1(SCN9A):c.1177C>T (p.Leu393=) rs184773311 0.00018
NM_001966.4(EHHADH):c.1414G>A (p.Val472Ile) rs138187022 0.00018
NM_004006.3(DMD):c.2166A>G (p.Lys722=) rs147580966 0.00018
NM_004006.3(DMD):c.2291A>G (p.Asn764Ser) rs199588981 0.00018
NM_004006.3(DMD):c.5933G>T (p.Arg1978Leu) rs148135406 0.00018
NM_004006.3(DMD):c.94-3C>T rs373907950 0.00018
NM_004086.3(COCH):c.87C>T (p.Pro29=) rs774290415 0.00018
NM_004369.4(COL6A3):c.3751G>A (p.Val1251Ile) rs199646208 0.00018
NM_004369.4(COL6A3):c.5652C>T (p.Thr1884=) rs200285455 0.00018
NM_004463.3(FGD1):c.2289G>A (p.Lys763=) rs150865566 0.00018
NM_004817.4(TJP2):c.3150G>A (p.Leu1050=) rs141675065 0.00018
NM_005249.5(FOXG1):c.218A>C (p.Gln73Pro) rs760663911 0.00018
NM_014639.4(SKIC3):c.3603A>G (p.Arg1201=) rs376083373 0.00018
NM_014874.4(MFN2):c.175+9G>A rs373340717 0.00018
NM_020822.3(KCNT1):c.867C>A (p.Ile289=) rs761045901 0.00018
NM_022124.6(CDH23):c.2940G>A (p.Thr980=) rs373631099 0.00018
NM_022124.6(CDH23):c.3431-6A>T rs377614198 0.00018
NM_022455.5(NSD1):c.8071G>A (p.Ala2691Thr) rs201823140 0.00018
NM_031220.4(PITPNM3):c.2700C>T (p.Arg900=) rs139901820 0.00018
NM_080680.3(COL11A2):c.2017-5T>G rs200523422 0.00018
NM_080680.3(COL11A2):c.233-8G>T rs375268140 0.00018
NM_138694.4(PKHD1):c.7734-6C>A rs367564272 0.00018
NM_144498.4(OSBPL2):c.833A>G (p.Lys278Arg) rs199648498 0.00018
NM_152564.5(VPS13B):c.4225-6G>A rs199755508 0.00018
NM_153240.5(NPHP3):c.3504A>G (p.Ala1168=) rs371505908 0.00018
NM_182914.3(SYNE2):c.16405C>A (p.Pro5469Thr) rs148492034 0.00018
NM_182961.4(SYNE1):c.20289A>G (p.Ser6763=) rs142327194 0.00018
NM_182961.4(SYNE1):c.24150C>T (p.His8050=) rs140259310 0.00018
NM_198253.3(TERT):c.604G>A (p.Ala202Thr) rs121918661 0.00018
NM_201384.3(PLEC):c.12564C>T (p.Gly4188=) rs140191309 0.00018
NM_201384.3(PLEC):c.13247C>T (p.Thr4416Met) rs201855218 0.00018
NM_201384.3(PLEC):c.6416G>A (p.Arg2139His) rs372652727 0.00018
NM_206933.4(USH2A):c.5619C>T (p.Val1873=) rs138416665 0.00018
NM_000023.4(SGCA):c.37+10G>T rs200626376 0.00017
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102 0.00017
NM_000088.4(COL1A1):c.3100-6C>T rs377123276 0.00017
NM_000142.5(FGFR3):c.1550A>G (p.Lys517Arg) rs139707740 0.00017
NM_000152.5(GAA):c.1848C>T (p.Asp616=) rs377175810 0.00017
NM_000273.3(GPR143):c.541G>A (p.Val181Met) rs200870584 0.00017
NM_000295.5(SERPINA1):c.718G>A (p.Val240Met) rs72552401 0.00017
NM_000392.5(ABCC2):c.1457C>T (p.Thr486Ile) rs17222589 0.00017
NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu) rs150946659 0.00017
NM_000548.5(TSC2):c.148A>G (p.Met50Val) rs140618379 0.00017
NM_000719.7(CACNA1C):c.4140+4G>A rs111442547 0.00017
NM_001031679.3(MSRB3):c.-67G>C rs368104588 0.00017
NM_001039141.3(TRIOBP):c.3774C>T (p.Pro1258=) rs377749969 0.00017
NM_001039876.3(SYNE4):c.213C>T (p.Ala71=) rs182159084 0.00017
NM_001077365.2(POMT1):c.586G>A (p.Ala196Thr) rs199498900 0.00017
NM_001083961.2(WDR62):c.1233+7C>G rs537771936 0.00017
NM_001122630.2(CDKN1C):c.669C>G (p.Gly223=) rs546016935 0.00017
NM_001130987.2(DYSF):c.3756T>C (p.Tyr1252=) rs141720146 0.00017
NM_001130987.2(DYSF):c.772G>A (p.Val258Met) rs150345121 0.00017
NM_001159699.2(FHL1):c.409G>A (p.Val137Ile) rs139402062 0.00017
NM_001267550.2(TTN):c.106955G>A (p.Arg35652Gln) rs200497615 0.00017
NM_001267550.2(TTN):c.14486A>C (p.Gln4829Pro) rs375177753 0.00017
NM_001267550.2(TTN):c.14533G>A (p.Asp4845Asn) rs373378672 0.00017
NM_001267550.2(TTN):c.22439A>C (p.Gln7480Pro) rs201065037 0.00017
NM_001267550.2(TTN):c.25877A>G (p.Asn8626Ser) rs200355367 0.00017
NM_001267550.2(TTN):c.32706G>A (p.Ala10902=) rs372124201 0.00017
NM_001267550.2(TTN):c.39166G>T (p.Val13056Leu) rs727504201 0.00017
NM_001267550.2(TTN):c.40581A>G (p.Glu13527=) rs775954427 0.00017
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu) rs368820294 0.00017
NM_001267550.2(TTN):c.54718G>A (p.Val18240Ile) rs375141729 0.00017
NM_001267550.2(TTN):c.61556G>A (p.Arg20519Gln) rs727504191 0.00017
NM_001267550.2(TTN):c.687T>C (p.Phe229=) rs376527094 0.00017
NM_001267550.2(TTN):c.74549A>G (p.Asp24850Gly) rs573415766 0.00017
NM_001267550.2(TTN):c.80554C>T (p.Arg26852Cys) rs185887755 0.00017
NM_001267550.2(TTN):c.81892G>A (p.Asp27298Asn) rs200697681 0.00017
NM_001267550.2(TTN):c.83618T>C (p.Val27873Ala) rs200775919 0.00017
NM_001267550.2(TTN):c.84203G>C (p.Ser28068Thr) rs72648219 0.00017
NM_001267550.2(TTN):c.92696T>C (p.Ile30899Thr) rs373727636 0.00017
NM_001297.5(CNGB1):c.1478C>T (p.Pro493Leu) rs148555948 0.00017
NM_001351132.2(PEX5):c.316+3G>A rs200776790 0.00017
NM_001374385.1(ATP8B1):c.1030-9G>A rs201532178 0.00017
NM_001376.5(DYNC1H1):c.8478A>G (p.Ala2826=) rs117846737 0.00017
NM_001848.3(COL6A1):c.1398+10G>A rs143438559 0.00017
NM_001848.3(COL6A1):c.2091G>A (p.Met697Ile) rs372750707 0.00017
NM_001849.4(COL6A2):c.786C>G (p.Gly262=) rs145500808 0.00017
NM_002335.4(LRP5):c.*4C>T rs374104266 0.00017
NM_002618.4(PEX13):c.856G>A (p.Val286Ile) rs201699810 0.00017
NM_002693.3(POLG):c.2028G>A (p.Ala676=) rs373550219 0.00017
NM_002900.3(RBP3):c.1840G>A (p.Asp614Asn) rs149642039 0.00017
NM_003482.4(KMT2D):c.6264C>T (p.Thr2088=) rs370414767 0.00017
NM_003742.4(ABCB11):c.2768C>T (p.Thr923Ile) rs199514789 0.00017
NM_003839.4(TNFRSF11A):c.321G>A (p.Thr107=) rs772863037 0.00017
NM_004006.3(DMD):c.5076A>G (p.Thr1692=) rs145181319 0.00017
NM_004369.4(COL6A3):c.7401G>A (p.Ser2467=) rs377572272 0.00017
NM_004369.4(COL6A3):c.8805G>A (p.Ala2935=) rs200111289 0.00017
NM_004380.3(CREBBP):c.6340G>A (p.Gly2114Ser) rs139169188 0.00017
NM_004393.6(DAG1):c.1308G>A (p.Thr436=) rs143763229 0.00017
NM_004715.5(CTDP1):c.669G>A (p.Thr223=) rs146831211 0.00017
NM_004813.4(PEX16):c.999C>T (p.Tyr333=) rs146657010 0.00017
NM_004817.4(TJP2):c.705G>T (p.Arg235=) rs750625862 0.00017
NM_004839.4(HOMER2):c.609G>T (p.Gln203His) rs200964994 0.00017
NM_005045.4(RELN):c.6647G>A (p.Arg2216Gln) rs200010849 0.00017
NM_005431.2(XRCC2):c.613T>G (p.Ser205Ala) rs56103026 0.00017
NM_005633.4(SOS1):c.*4C>T rs188849286 0.00017
NM_005802.5(TOPORS):c.2019T>A (p.Arg673=) rs760719392 0.00017
NM_005802.5(TOPORS):c.2862A>C (p.Thr954=) rs143560726 0.00017
NM_005989.4(AKR1D1):c.396C>T (p.Tyr132=) rs149920599 0.00017
NM_006019.4(TCIRG1):c.1227C>T (p.His409=) rs145080707 0.00017
NM_014363.6(SACS):c.7140T>A (p.Asn2380Lys) rs61754478 0.00017
NM_015102.5(NPHP4):c.1923C>T (p.Asn641=) rs372430727 0.00017
NM_015102.5(NPHP4):c.3028G>A (p.Asp1010Asn) rs200166175 0.00017
NM_017780.4(CHD7):c.6103+6T>C rs371509438 0.00017
NM_017780.4(CHD7):c.6247C>T (p.Pro2083Ser) rs370972259 0.00017
NM_018006.5(TRMU):c.853G>A (p.Val285Ile) rs147754663 0.00017
NM_022124.6(CDH23):c.3486G>C (p.Gly1162=) rs397517324 0.00017
NM_024408.4(NOTCH2):c.3206G>A (p.Arg1069Gln) rs146014987 0.00017
NM_024592.5(SRD5A3):c.43C>T (p.Leu15=) rs376944136 0.00017
NM_024596.5(MCPH1):c.1443C>T (p.Ile481=) rs185736569 0.00017
NM_024757.5(EHMT1):c.1947G>A (p.Ser649=) rs139206060 0.00017
NM_025074.7(FRAS1):c.990A>G (p.Glu330=) rs374045395 0.00017
NM_025114.4(CEP290):c.3955T>C (p.Leu1319=) rs182851622 0.00017
NM_030665.4(RAI1):c.1476C>T (p.Pro492=) rs200887225 0.00017
NM_030665.4(RAI1):c.5379C>T (p.Gly1793=) rs372539998 0.00017
NM_032119.4(ADGRV1):c.9558C>T (p.Thr3186=) rs201089046 0.00017
NM_033028.5(BBS4):c.1548_1549del (p.Ile516fs) rs398124432 0.00017
NM_033337.3(CAV3):c.234G>A (p.Thr78=) rs148846096 0.00017
NM_054012.4(ASS1):c.765C>T (p.Asn255=) rs375579096 0.00017
NM_054027.6(ANKH):c.846A>G (p.Thr282=) rs139013878 0.00017
NM_058246.4(DNAJB6):c.706G>A (p.Asp236Asn) rs556999563 0.00017
NM_133433.4(NIPBL):c.2603G>A (p.Arg868Gln) rs149629686 0.00017
NM_138694.4(PKHD1):c.2781A>G (p.Gln927=) rs200511208 0.00017
NM_138694.4(PKHD1):c.7533A>G (p.Ser2511=) rs200679577 0.00017
NM_138694.4(PKHD1):c.8022G>T (p.Leu2674=) rs755688912 0.00017
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys) rs139141291 0.00017
NM_153240.5(NPHP3):c.2172-4A>G rs375032661 0.00017
NM_182914.3(SYNE2):c.14139+5G>A rs374778697 0.00017
NM_182961.4(SYNE1):c.22923C>T (p.Ala7641=) rs2296253 0.00017
NM_182961.4(SYNE1):c.582-9A>G rs200412221 0.00017
NM_201384.3(PLEC):c.10011G>A (p.Thr3337=) rs367762942 0.00017
NM_201384.3(PLEC):c.10521C>T (p.Asp3507=) rs201905804 0.00017
NM_201384.3(PLEC):c.11207C>T (p.Pro3736Leu) rs77146441 0.00017
NM_201384.3(PLEC):c.4800C>T (p.His1600=) rs149044728 0.00017
NM_201384.3(PLEC):c.7383G>T (p.Lys2461Asn) rs371673069 0.00017
NM_201384.3(PLEC):c.7527C>T (p.Ile2509=) rs782605503 0.00017
NM_201384.3(PLEC):c.8316C>T (p.Arg2772=) rs782420340 0.00017
NM_000035.4(ALDOB):c.582T>C (p.Asp194=) rs141988626 0.00016
NM_000138.5(FBN1):c.59A>G (p.Tyr20Cys) rs201309310 0.00016
NM_000251.3(MSH2):c.1275A>G (p.Glu425=) rs63751650 0.00016
NM_000260.4(MYO7A):c.5688G>A (p.Gln1896=) rs570316231 0.00016
NM_000271.5(NPC1):c.3732C>T (p.Leu1244=) rs1621962 0.00016
NM_000283.4(PDE6B):c.2548A>G (p.Thr850Ala) rs141647790 0.00016
NM_000335.5(SCN5A):c.5334G>A (p.Thr1778=) rs41311121 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_000443.4(ABCB4):c.80+5A>C rs186976987 0.00016
NM_000466.3(PEX1):c.627G>A (p.Met209Ile) rs200752969 0.00016
NM_000540.3(RYR1):c.6654C>T (p.Gly2218=) rs149185729 0.00016
NM_000540.3(RYR1):c.8505A>T (p.Glu2835Asp) rs144777676 0.00016
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673 0.00016
NM_000548.5(TSC2):c.1244C>T (p.Ala415Val) rs374936223 0.00016
NM_000784.4(CYP27A1):c.120C>T (p.Ala40=) rs150389057 0.00016
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594 0.00016
NM_001077365.2(POMT1):c.1727T>C (p.Val576Ala) rs144338642 0.00016
NM_001110556.2(FLNA):c.3045G>A (p.Ala1015=) rs370868704 0.00016
NM_001126121.2(SLC25A19):c.504C>T (p.Ser168=) rs148474667 0.00016
NM_001127222.2(CACNA1A):c.3016C>T (p.Arg1006Trp) rs757026025 0.00016
NM_001127222.2(CACNA1A):c.5170G>A (p.Asp1724Asn) rs371595464 0.00016
NM_001130987.2(DYSF):c.225G>A (p.Thr75=) rs200957354 0.00016
NM_001130987.2(DYSF):c.3852G>A (p.Pro1284=) rs139983909 0.00016
NM_001134831.2(AHI1):c.1033T>A (p.Leu345Met) rs200927282 0.00016
NM_001164508.2(NEB):c.3879+8G>A rs376511134 0.00016
NM_001165963.4(SCN1A):c.1889G>A (p.Arg630Gln) rs145670933 0.00016
NM_001171.6(ABCC6):c.1424A>T (p.His475Leu) rs151187637 0.00016
NM_001252024.2(TRPM1):c.2653A>G (p.Ile885Val) rs201650867 0.00016
NM_001267550.2(TTN):c.100049C>T (p.Thr33350Ile) rs370300135 0.00016
NM_001267550.2(TTN):c.104590C>A (p.Pro34864Thr) rs756640084 0.00016
NM_001267550.2(TTN):c.12332C>G (p.Ala4111Gly) rs140289517 0.00016
NM_001267550.2(TTN):c.28741A>G (p.Ile9581Val) rs371826762 0.00016
NM_001267550.2(TTN):c.30513A>T (p.Glu10171Asp) rs577066020 0.00016
NM_001267550.2(TTN):c.43260C>T (p.Phe14420=) rs372382546 0.00016
NM_001267550.2(TTN):c.43315C>T (p.Arg14439Cys) rs200914097 0.00016
NM_001267550.2(TTN):c.53881+5G>A rs753527304 0.00016
NM_001267550.2(TTN):c.54104C>T (p.Ala18035Val) rs182445366 0.00016
NM_001267550.2(TTN):c.54740T>C (p.Met18247Thr) rs200585270 0.00016
NM_001267550.2(TTN):c.64898G>A (p.Arg21633Gln) rs141965360 0.00016
NM_001267550.2(TTN):c.67959T>C (p.Phe22653=) rs72646877 0.00016
NM_001267550.2(TTN):c.72766A>G (p.Asn24256Asp) rs187868672 0.00016
NM_001267550.2(TTN):c.75490G>A (p.Asp25164Asn) rs192468365 0.00016
NM_001267550.2(TTN):c.78914C>G (p.Ser26305Cys) rs199646089 0.00016
NM_001267550.2(TTN):c.79883G>C (p.Arg26628Pro) rs201091376 0.00016
NM_001267550.2(TTN):c.87367A>C (p.Ser29123Arg) rs375198596 0.00016
NM_001267550.2(TTN):c.87878G>A (p.Arg29293His) rs202001776 0.00016
NM_001267550.2(TTN):c.92684G>A (p.Arg30895Gln) rs200141081 0.00016
NM_001267550.2(TTN):c.92782G>C (p.Asp30928His) rs397517756 0.00016
NM_001267550.2(TTN):c.95961C>T (p.Ala31987=) rs369405564 0.00016
NM_001267550.2(TTN):c.96138A>T (p.Ile32046=) rs368154623 0.00016
NM_001267550.2(TTN):c.96684C>T (p.Tyr32228=) rs368423941 0.00016
NM_001267550.2(TTN):c.97055G>A (p.Arg32352His) rs575939045 0.00016
NM_001267550.2(TTN):c.9857A>G (p.Lys3286Arg) rs200052398 0.00016
NM_001278116.2(L1CAM):c.256G>A (p.Val86Met) rs149309725 0.00016
NM_001351132.2(PEX5):c.396T>C (p.Thr132=) rs370827246 0.00016
NM_001367624.2(ZNF469):c.8489G>C (p.Gly2830Ala) rs541325052 0.00016
NM_001378454.1(ALMS1):c.11328C>T (p.His3776=) rs45596541 0.00016
NM_001384140.1(PCDH15):c.2424G>C (p.Lys808Asn) rs375855445 0.00016
NM_001384474.1(LOXHD1):c.6462C>G (p.Val2154=) rs141737883 0.00016
NM_001384732.1(CPLANE1):c.4388C>T (p.Thr1463Ile) rs202103224 0.00016
NM_001429.4(EP300):c.5711A>C (p.Gln1904Pro) rs140187237 0.00016
NM_001482.3(GATM):c.692C>G (p.Ser231Cys) rs202225656 0.00016
NM_001614.5(ACTG1):c.825C>T (p.His275=) rs145303691 0.00016
NM_001844.5(COL2A1):c.4064G>A (p.Gly1355Asp) rs201646745 0.00016
NM_001848.3(COL6A1):c.429-8C>T rs768951384 0.00016
NM_001927.4(DES):c.643G>A (p.Val215Met) rs144908941 0.00016
NM_002025.4(AFF2):c.2424C>T (p.Asp808=) rs139807832 0.00016
NM_002241.5(KCNJ10):c.219G>A (p.Ala73=) rs144495959 0.00016
NM_002335.4(LRP5):c.1299C>T (p.Thr433=) rs145362529 0.00016
NM_002693.3(POLG):c.1356T>C (p.Tyr452=) rs3176179 0.00016
NM_002693.3(POLG):c.186A>G (p.Leu62=) rs745310138 0.00016
NM_002857.4(PEX19):c.21C>G (p.Gly7=) rs140039683 0.00016
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln) rs145611571 0.00016
NM_003193.5(TBCE):c.847A>T (p.Ile283Phe) rs200022583 0.00016
NM_003482.4(KMT2D):c.1010C>T (p.Ser337Leu) rs200245957 0.00016
NM_003722.5(TP63):c.992+10G>A rs373106660 0.00016
NM_004260.4(RECQL4):c.1391-4G>T rs190388213 0.00016
NM_004447.6(EPS8):c.2195C>T (p.Thr732Met) rs141592108 0.00016
NM_005529.7(HSPG2):c.7438C>T (p.Arg2480Trp) rs143437991 0.00016
NM_005996.4(TBX3):c.1080G>C (p.Glu360Asp) rs376189812 0.00016
NM_006031.6(PCNT):c.9840-4G>A rs199857861 0.00016
NM_006516.4(SLC2A1):c.972+7del rs531385270 0.00016
NM_006662.3(SRCAP):c.7723T>A (p.Ser2575Thr) rs368587038 0.00016
NM_007294.4(BRCA1):c.4410A>T (p.Glu1470Asp) rs80357075 0.00016
NM_012232.6(CAVIN1):c.*10G>A rs200409122 0.00016
NM_013382.7(POMT2):c.1206A>C (p.Pro402=) rs142479943 0.00016
NM_014639.4(SKIC3):c.1446T>C (p.Phe482=) rs142880784 0.00016
NM_015102.5(NPHP4):c.4107G>A (p.Pro1369=) rs200569946 0.00016
NM_015272.5(RPGRIP1L):c.3616+7A>G rs373003699 0.00016
NM_015972.4(POLR1D):c.177C>T (p.Ile59=) rs144597856 0.00016
NM_016219.5(MAN1B1):c.1312C>T (p.Leu438=) rs150942110 0.00016
NM_016239.4(MYO15A):c.5866C>T (p.Arg1956Trp) rs185873402 0.00016
NM_016729.3(FOLR1):c.357+8T>A rs886042924 0.00016
NM_017780.4(CHD7):c.4851T>C (p.Gly1617=) rs181927766 0.00016
NM_018941.4(CLN8):c.806A>T (p.Glu269Val) rs139003032 0.00016
NM_019098.5(CNGB3):c.474C>T (p.Pro158=) rs151230930 0.00016
NM_020779.4(WDR35):c.3252G>A (p.Glu1084=) rs182360785 0.00016
NM_022124.6(CDH23):c.6050-10C>T rs560760228 0.00016
NM_022124.6(CDH23):c.6426A>G (p.Leu2142=) rs371932558 0.00016
NM_022455.5(NSD1):c.3088T>C (p.Leu1030=) rs61756006 0.00016
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser) rs373932824 0.00016
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736 0.00016
NM_025137.4(SPG11):c.979C>G (p.Leu327Val) rs146109825 0.00016
NM_032119.4(ADGRV1):c.1056G>A (p.Pro352=) rs115239207 0.00016
NM_032119.4(ADGRV1):c.17613G>A (p.Gln5871=) rs371091564 0.00016
NM_053025.4(MYLK):c.257G>A (p.Arg86Gln) rs138265409 0.00016
NM_080680.3(COL11A2):c.4863+7G>A rs200947059 0.00016
NM_080916.3(DGUOK):c.366G>C (p.Gln122His) rs199645258 0.00016
NM_133379.5(TTN):c.12524C>A (p.Ser4175Tyr) rs72647899 0.00016
NM_133379.5(TTN):c.15122C>G (p.Thr5041Arg) rs148791107 0.00016
NM_133433.4(NIPBL):c.1833T>A (p.Ser611Arg) rs199546324 0.00016
NM_138691.3(TMC1):c.2070G>A (p.Ala690=) rs145757452 0.00016
NM_138694.4(PKHD1):c.3048T>C (p.Asn1016=) rs138989655 0.00016
NM_138694.4(PKHD1):c.633G>A (p.Gly211=) rs144025892 0.00016
NM_138694.4(PKHD1):c.8187C>A (p.Ala2729=) rs149310653 0.00016
NM_170707.4(LMNA):c.1656C>T (p.Asp552=) rs370219874 0.00016
NM_170707.4(LMNA):c.1657G>A (p.Asp553Asn) rs373671419 0.00016
NM_170707.4(LMNA):c.895A>G (p.Ile299Val) rs150924946 0.00016
NM_173660.5(DOK7):c.957C>G (p.Pro319=) rs777573281 0.00016
NM_174878.3(CLRN1):c.226T>C (p.Leu76=) rs139829306 0.00016
NM_182961.4(SYNE1):c.11594C>T (p.Thr3865Met) rs202173395 0.00016
NM_182961.4(SYNE1):c.15863G>C (p.Gly5288Ala) rs201313856 0.00016
NM_182961.4(SYNE1):c.7076C>A (p.Thr2359Asn) rs142747430 0.00016
NM_201384.3(PLEC):c.11823C>T (p.Asp3941=) rs201426199 0.00016
NM_201384.3(PLEC):c.12444G>A (p.Thr4148=) rs143548638 0.00016
NM_201384.3(PLEC):c.2535C>T (p.Ser845=) rs199721954 0.00016
NM_201384.3(PLEC):c.4446G>A (p.Ala1482=) rs782202249 0.00016
NM_201384.3(PLEC):c.5582C>T (p.Ala1861Val) rs200949161 0.00016
NM_201384.3(PLEC):c.9692G>A (p.Arg3231His) rs377610697 0.00016
NM_206933.4(USH2A):c.9037G>A (p.Ala3013Thr) rs149813671 0.00016
NM_000070.3(CAPN3):c.1830C>T (p.Asn610=) rs202019404 0.00015
NM_000090.4(COL3A1):c.4086C>T (p.Ser1362=) rs779774302 0.00015
NM_000117.3(EMD):c.537G>A (p.Leu179=) rs368661339 0.00015
NM_000152.5(GAA):c.2052G>A (p.Pro684=) rs546463058 0.00015
NM_000316.3(PTH1R):c.638+9G>A rs371052201 0.00015
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln) rs200476861 0.00015
NM_000443.4(ABCB4):c.366A>G (p.Gly122=) rs113445400 0.00015
NM_000492.4(CFTR):c.360G>A (p.Ala120=) rs1800077 0.00015
NM_000528.4(MAN2B1):c.1928+10G>C rs200579436 0.00015
NM_000548.5(TSC2):c.300G>A (p.Ala100=) rs45517100 0.00015
NM_000548.5(TSC2):c.4044C>T (p.His1348=) rs137854084 0.00015
NM_000719.7(CACNA1C):c.5644T>C (p.Ser1882Pro) rs369438564 0.00015
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile) rs199473660 0.00015
NM_001079802.2(FKTN):c.333T>C (p.Thr111=) rs141729611 0.00015
NM_001083961.2(WDR62):c.3087C>T (p.Cys1029=) rs141344823 0.00015
NM_001110556.2(FLNA):c.1812C>T (p.Asp604=) rs370735674 0.00015
NM_001111125.3(IQSEC2):c.4293C>T (p.Ile1431=) rs782536136 0.00015
NM_001127222.2(CACNA1A):c.6494G>A (p.Arg2165His) rs727503832 0.00015
NM_001128178.3(NPHP1):c.771+33G>A rs751388694 0.00015
NM_001130987.2(DYSF):c.1140C>T (p.Asp380=) rs373744398 0.00015
NM_001161352.2(KCNMA1):c.192C>G (p.Pro64=) rs143562140 0.00015
NM_001200.4(BMP2):c.1041G>A (p.Thr347=) rs143654141 0.00015
NM_001267550.2(TTN):c.104364C>T (p.Ser34788=) rs181679744 0.00015
NM_001267550.2(TTN):c.104414G>A (p.Arg34805Gln) rs115150240 0.00015
NM_001267550.2(TTN):c.104936G>C (p.Gly34979Ala) rs376634193 0.00015
NM_001267550.2(TTN):c.26928G>A (p.Leu8976=) rs370973715 0.00015
NM_001267550.2(TTN):c.4291C>T (p.Arg1431Trp) rs139636676 0.00015
NM_001267550.2(TTN):c.45014T>C (p.Leu15005Pro) rs369992659 0.00015
NM_001267550.2(TTN):c.48624T>C (p.Pro16208=) rs72677240 0.00015
NM_001267550.2(TTN):c.49871G>A (p.Arg16624Gln) rs367566671 0.00015
NM_001267550.2(TTN):c.54490T>C (p.Tyr18164His) rs370135374 0.00015
NM_001267550.2(TTN):c.57656A>T (p.Tyr19219Phe) rs201541213 0.00015
NM_001267550.2(TTN):c.79546G>A (p.Gly26516Ser) rs776256093 0.00015
NM_001267550.2(TTN):c.89946C>T (p.Val29982=) rs373311459 0.00015
NM_001267550.2(TTN):c.93570T>A (p.Asn31190Lys) rs746309005 0.00015
NM_001267550.2(TTN):c.99946G>A (p.Ala33316Thr) rs374295768 0.00015
NM_001292063.2(OTOG):c.2871G>A (p.Val957=) rs539784682 0.00015
NM_001347702.2(SYNE1):c.1446A>G (p.Val482=) rs377088951 0.00015
NM_001376.5(DYNC1H1):c.3156+5G>A rs200905961 0.00015
NM_001378120.1(MBD5):c.3678G>C (p.Gln1226His) rs148321416 0.00015
NM_001849.4(COL6A2):c.1599C>T (p.Arg533=) rs373635709 0.00015
NM_001849.4(COL6A2):c.2850C>T (p.Gly950=) rs751192681 0.00015
NM_002485.5(NBN):c.1036G>A (p.Val346Met) rs200297914 0.00015
NM_002485.5(NBN):c.38-10T>A rs556807466 0.00015
NM_002633.3(PGM1):c.1600-3C>T rs375450688 0.00015
NM_002979.5(SCP2):c.348C>T (p.Val116=) rs202234745 0.00015
NM_003482.4(KMT2D):c.1378C>A (p.Pro460Thr) rs201089405 0.00015
NM_003482.4(KMT2D):c.2232A>C (p.Ser744=) rs200155807 0.00015
NM_003482.4(KMT2D):c.5526T>C (p.Asp1842=) rs137955659 0.00015
NM_003673.4(TCAP):c.270G>A (p.Pro90=) rs372538567 0.00015
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963 0.00015
NM_004006.3(DMD):c.4072-3T>C rs751657094 0.00015
NM_004006.3(DMD):c.7578G>A (p.Gln2526=) rs142236825 0.00015
NM_004385.5(VCAN):c.7065C>T (p.Ile2355=) rs727504214 0.00015
NM_004385.5(VCAN):c.8621C>T (p.Ala2874Val) rs147798761 0.00015
NM_004393.6(DAG1):c.1719C>T (p.His573=) rs146157416 0.00015
NM_004560.4(ROR2):c.380C>T (p.Thr127Met) rs375080866 0.00015
NM_004614.5(TK2):c.680C>T (p.Pro227Leu) rs754140768 0.00015
NM_004817.4(TJP2):c.1473C>A (p.Ala491=) rs138509345 0.00015
NM_004959.5(NR5A1):c.1266C>T (p.Cys422=) rs140408680 0.00015
NM_005045.4(RELN):c.2376T>C (p.Gly792=) rs398124191 0.00015
NM_005633.4(SOS1):c.2966G>A (p.Arg989Lys) rs202043599 0.00015
NM_007254.4(PNKP):c.1413T>C (p.His471=) rs370017666 0.00015
NM_007255.3(B4GALT7):c.687C>T (p.Asp229=) rs756942664 0.00015
NM_014363.6(SACS):c.11703T>C (p.Asn3901=) rs146154135 0.00015
NM_014780.5(CUL7):c.1570-8G>A rs372757013 0.00015
NM_017777.4(MKS1):c.1601G>A (p.Arg534Gln) rs199910690 0.00015
NM_017780.4(CHD7):c.6513C>T (p.Ala2171=) rs376020564 0.00015
NM_017780.4(CHD7):c.8446T>C (p.Leu2816=) rs375204972 0.00015
NM_018965.4(TREM2):c.677-6T>C rs199910080 0.00015
NM_022124.6(CDH23):c.2891G>A (p.Arg964Gln) rs376560330 0.00015
NM_022356.4(P3H1):c.1721-4C>T rs200901466 0.00015
NM_022437.3(ABCG8):c.342G>A (p.Leu114=) rs150970273 0.00015
NM_024301.5(FKRP):c.1405C>T (p.Leu469=) rs143129484 0.00015
NM_024301.5(FKRP):c.336C>T (p.Ala112=) rs1054339656 0.00015
NM_030665.4(RAI1):c.1740G>A (p.Pro580=) rs138768616 0.00015
NM_030665.4(RAI1):c.2422G>A (p.Gly808Arg) rs746952369 0.00015
NM_032119.4(ADGRV1):c.2538G>A (p.Leu846=) rs375415491 0.00015
NM_032119.4(ADGRV1):c.2596C>T (p.Arg866Trp) rs200389929 0.00015
NM_033100.4(CDHR1):c.1471G>A (p.Val491Met) rs138638103 0.00015
NM_130837.3(OPA1):c.70A>G (p.Ile24Val) rs201520438 0.00015
NM_138694.4(PKHD1):c.4854C>T (p.Ile1618=) rs140674740 0.00015
NM_139058.3(ARX):c.1119+6C>T rs201300786 0.00015
NM_153240.5(NPHP3):c.621A>G (p.Val207=) rs139693694 0.00015
NM_153240.5(NPHP3):c.670+6T>C rs190074663 0.00015
NM_153638.4(PANK2):c.280C>G (p.Arg94Gly) rs199680057 0.00015
NM_182914.3(SYNE2):c.8005A>G (p.Thr2669Ala) rs374946613 0.00015
NM_182914.3(SYNE2):c.8911C>G (p.Gln2971Glu) rs200909650 0.00015
NM_182961.4(SYNE1):c.4723C>T (p.Leu1575Phe) rs200424447 0.00015
NM_182961.4(SYNE1):c.5488T>C (p.Leu1830=) rs118022241 0.00015
NM_182961.4(SYNE1):c.6648C>T (p.Cys2216=) rs185829704 0.00015
NM_201384.3(PLEC):c.10417G>A (p.Gly3473Ser) rs201765507 0.00015
NM_201384.3(PLEC):c.11597G>A (p.Arg3866His) rs377150241 0.00015
NM_201384.3(PLEC):c.11657G>A (p.Arg3886His) rs368152307 0.00015
NM_201384.3(PLEC):c.13470C>T (p.Arg4490=) rs531535217 0.00015
NM_201384.3(PLEC):c.3279G>A (p.Leu1093=) rs371818099 0.00015
NM_201384.3(PLEC):c.5520C>T (p.Ala1840=) rs374790646 0.00015
NM_201384.3(PLEC):c.6399G>A (p.Ala2133=) rs375489890 0.00015
NM_201384.3(PLEC):c.897G>A (p.Thr299=) rs377035835 0.00015
NM_206933.4(USH2A):c.1486A>C (p.Thr496Pro) rs145114473 0.00015
NM_206933.4(USH2A):c.9008T>C (p.Val3003Ala) rs138574386 0.00015
NM_213599.3(ANO5):c.279C>T (p.Asp93=) rs148516756 0.00015
NM_000053.4(ATP7B):c.1621G>A (p.Glu541Lys) rs187046823 0.00014
NM_000083.3(CLCN1):c.1392C>T (p.Phe464=) rs201919331 0.00014
NM_000090.4(COL3A1):c.4021G>A (p.Gly1341Ser) rs140646380 0.00014
NM_000152.5(GAA):c.1593C>T (p.Asp531=) rs138732016 0.00014
NM_000214.3(JAG1):c.3467T>C (p.Val1156Ala) rs143966918 0.00014
NM_000256.3(MYBPC3):c.246T>C (p.Ile82=) rs372502369 0.00014
NM_000268.4(NF2):c.107A>G (p.Asn36Ser) rs372279458 0.00014
NM_000271.5(NPC1):c.1431G>A (p.Thr477=) rs375307057 0.00014
NM_000368.5(TSC1):c.532G>A (p.Val178Ile) rs118203395 0.00014
NM_000426.4(LAMA2):c.7395T>C (p.Asp2465=) rs140483001 0.00014
NM_000492.4(CFTR):c.2559T>C (p.Ile853=) rs1800104 0.00014
NM_000540.3(RYR1):c.2319C>T (p.Asp773=) rs374924686 0.00014
NM_000540.3(RYR1):c.641C>T (p.Thr214Met) rs727504129 0.00014
NM_000543.5(SMPD1):c.56A>G (p.Gln19Arg) rs144465428 0.00014
NM_000543.5(SMPD1):c.708G>A (p.Pro236=) rs374604948 0.00014
NM_000543.5(SMPD1):c.808G>A (p.Gly270Ser) rs202244080 0.00014
NM_000548.5(TSC2):c.4493+7C>A rs199943270 0.00014
NM_000719.7(CACNA1C):c.4322C>T (p.Thr1441Met) rs727503835 0.00014
NM_000942.5(PPIB):c.569G>A (p.Arg190Gln) rs200864554 0.00014
NM_001004334.4(GPR179):c.5058C>T (p.Ala1686=) rs376750375 0.00014
NM_001010892.3(RSPH4A):c.1708G>C (p.Glu570Gln) rs147003118 0.00014
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His) rs79457258 0.00014
NM_001077365.2(POMT1):c.129C>T (p.Asp43=) rs200465419 0.00014
NM_001111125.3(IQSEC2):c.1926G>A (p.Pro642=) rs782748026 0.00014
NM_001130987.2(DYSF):c.2622G>A (p.Leu874=) rs191337920 0.00014
NM_001130987.2(DYSF):c.279C>T (p.Leu93=) rs138870937 0.00014
NM_001165963.4(SCN1A):c.1790C>A (p.Thr597Asn) rs149715258 0.00014
NM_001165963.4(SCN1A):c.3591A>G (p.Glu1197=) rs371596040 0.00014
NM_001165963.4(SCN1A):c.579C>T (p.Leu193=) rs116478064 0.00014
NM_001252024.2(TRPM1):c.924G>A (p.Ser308=) rs376610188 0.00014
NM_001267550.2(TTN):c.102561C>T (p.Tyr34187=) rs375625664 0.00014
NM_001267550.2(TTN):c.102877A>G (p.Lys34293Glu) rs72629783 0.00014
NM_001267550.2(TTN):c.103104A>G (p.Leu34368=) rs371535721 0.00014
NM_001267550.2(TTN):c.104605G>A (p.Glu34869Lys) rs563430855 0.00014
NM_001267550.2(TTN):c.14759C>T (p.Thr4920Met) rs371455094 0.00014
NM_001267550.2(TTN):c.20108G>A (p.Arg6703Gln) rs546821182 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.3010G>A (p.Glu1004Lys) rs200902055 0.00014
NM_001267550.2(TTN):c.32971G>A (p.Glu10991Lys) rs201081803 0.00014
NM_001267550.2(TTN):c.33838C>T (p.Pro11280Ser) rs374449452 0.00014
NM_001267550.2(TTN):c.35313G>A (p.Pro11771=) rs369739111 0.00014
NM_001267550.2(TTN):c.3835A>T (p.Met1279Leu) rs374497665 0.00014
NM_001267550.2(TTN):c.50059A>G (p.Ile16687Val) rs727504194 0.00014
NM_001267550.2(TTN):c.58190C>T (p.Thr19397Met) rs373527448 0.00014
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=) rs375006117 0.00014
NM_001267550.2(TTN):c.66590G>A (p.Arg22197Gln) rs374656017 0.00014
NM_001267550.2(TTN):c.70131A>G (p.Thr23377=) rs369503828 0.00014
NM_001267550.2(TTN):c.72182T>C (p.Met24061Thr) rs200471370 0.00014
NM_001267550.2(TTN):c.83870G>C (p.Arg27957Thr) rs148067743 0.00014
NM_001267550.2(TTN):c.84977G>A (p.Arg28326Gln) rs200843338 0.00014
NM_001267550.2(TTN):c.85745T>A (p.Ile28582Lys) rs201688358 0.00014
NM_001267550.2(TTN):c.86025G>A (p.Pro28675=) rs369528150 0.00014
NM_001267550.2(TTN):c.87771C>A (p.Gly29257=) rs72648230 0.00014
NM_001267550.2(TTN):c.88685G>A (p.Gly29562Asp) rs72648235 0.00014
NM_001267550.2(TTN):c.90793C>T (p.Arg30265Trp) rs200022152 0.00014
NM_001267550.2(TTN):c.91119A>G (p.Lys30373=) rs192167542 0.00014
NM_001267550.2(TTN):c.96173G>A (p.Arg32058Gln) rs374063064 0.00014
NM_001267550.2(TTN):c.99340T>C (p.Leu33114=) rs371656672 0.00014
NM_001277115.2(DNAH11):c.9499A>C (p.Thr3167Pro) rs202224167 0.00014
NM_001297.5(CNGB1):c.2869G>A (p.Val957Ile) rs189261750 0.00014
NM_001351132.2(PEX5):c.129A>G (p.Gly43=) rs932238098 0.00014
NM_001353214.3(DYM):c.534A>G (p.Thr178=) rs775696326 0.00014
NM_001367624.2(ZNF469):c.4422G>A (p.Ala1474=) rs368877287 0.00014
NM_001374385.1(ATP8B1):c.2337C>T (p.Tyr779=) rs764863689 0.00014
NM_001374385.1(ATP8B1):c.2928G>A (p.Ala976=) rs201803908 0.00014
NM_001378615.1(CC2D2A):c.1731G>A (p.Ser577=) rs376746356 0.00014
NM_001379081.2(FREM1):c.3471+9C>T rs377668876 0.00014
NM_001453.3(FOXC1):c.78C>T (p.Tyr26=) rs545478008 0.00014
NM_001793.6(CDH3):c.1704G>A (p.Thr568=) rs561193756 0.00014
NM_001848.3(COL6A1):c.1665C>T (p.Pro555=) rs369802454 0.00014
NM_001848.3(COL6A1):c.348C>T (p.Ser116=) rs189444981 0.00014
NM_001849.4(COL6A2):c.567C>T (p.Ala189=) rs563505047 0.00014
NM_002241.5(KCNJ10):c.688C>T (p.Arg230Trp) rs149615470 0.00014
NM_002473.6(MYH9):c.4024C>T (p.Arg1342Trp) rs147901502 0.00014
NM_002474.3(MYH11):c.1017C>T (p.Ser339=) rs112161189 0.00014
NM_002474.3(MYH11):c.5516C>T (p.Ala1839Val) rs112948385 0.00014
NM_002485.5(NBN):c.456G>A (p.Met152Ile) rs201816949 0.00014
NM_002979.5(SCP2):c.1074C>T (p.Gly358=) rs74638331 0.00014
NM_003049.4(SLC10A1):c.877C>G (p.Gln293Glu) rs189313778 0.00014
NM_003098.3(SNTA1):c.287G>C (p.Gly96Ala) rs766925398 0.00014
NM_003482.4(KMT2D):c.2847G>A (p.Pro949=) rs369436545 0.00014
NM_003482.4(KMT2D):c.5319+3G>A rs372897046 0.00014
NM_003640.5(ELP1):c.208C>T (p.Arg70Cys) rs3737311 0.00014
NM_004006.3(DMD):c.1603-4C>A rs377223643 0.00014
NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe) rs760733415 0.00014
NM_004098.4(EMX2):c.653G>A (p.Gly218Asp) rs200981903 0.00014
NM_004565.3(PEX14):c.303C>T (p.Pro101=) rs199552789 0.00014
NM_004817.4(TJP2):c.1818G>A (p.Ser606=) rs527789195 0.00014
NM_005045.4(RELN):c.3411C>T (p.Gly1137=) rs137974322 0.00014
NM_005857.5(ZMPSTE24):c.933A>G (p.Glu311=) rs150740479 0.00014
NM_006005.3(WFS1):c.2054G>A (p.Arg685His) rs142668478 0.00014
NM_006662.3(SRCAP):c.4120C>T (p.Leu1374Phe) rs777744269 0.00014
NM_012470.4(TNPO3):c.30C>T (p.Leu10=) rs138263703 0.00014
NM_014251.3(SLC25A13):c.1275G>A (p.Ser425=) rs376416252 0.00014
NM_015102.5(NPHP4):c.3309C>T (p.His1103=) rs200320780 0.00014
NM_015340.4(LARS2):c.1383T>C (p.Ile461=) rs35347543 0.00014
NM_016219.5(MAN1B1):c.1841G>A (p.Arg614His) rs374247020 0.00014
NM_018136.5(ASPM):c.1980C>T (p.Ile660=) rs151087446 0.00014
NM_018136.5(ASPM):c.7569A>G (p.Gln2523=) rs148494695 0.00014
NM_019066.5(MAGEL2):c.2660G>A (p.Arg887Gln) rs199772480 0.00014
NM_020822.3(KCNT1):c.1394C>T (p.Thr465Met) rs539139475 0.00014
NM_020975.6(RET):c.1699G>A (p.Asp567Asn) rs147219360 0.00014
NM_022437.3(ABCG8):c.1647C>T (p.Ala549=) rs369736263 0.00014
NM_024753.5(TTC21B):c.549T>C (p.Gly183=) rs141664029 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.2004C>T (p.Pro668=) rs398124414 0.00014
NM_030665.4(RAI1):c.4693G>A (p.Val1565Met) rs368106957 0.00014
NM_080680.3(COL11A2):c.4959C>T (p.Tyr1653=) rs140017436 0.00014
NM_133497.4(KCNV2):c.441C>A (p.Asp147Glu) rs146659188 0.00014
NM_138694.4(PKHD1):c.977-7C>G rs1054774956 0.00014
NM_144670.6(A2ML1):c.1856G>C (p.Trp619Ser) rs369180298 0.00014
NM_170699.3(GPBAR1):c.334A>G (p.Met112Val) rs202032682 0.00014
NM_182961.4(SYNE1):c.25120-6A>G rs201898019 0.00014
NM_194248.3(OTOF):c.446C>T (p.Thr149Met) rs140454738 0.00014
NM_201384.3(PLEC):c.11476C>T (p.Arg3826Cys) rs781836500 0.00014
NM_201384.3(PLEC):c.12671C>G (p.Ala4224Gly) rs368212208 0.00014
NM_201384.3(PLEC):c.1283C>T (p.Ala428Val) rs200893203 0.00014
NM_201384.3(PLEC):c.1305G>A (p.Ala435=) rs369877618 0.00014
NM_201384.3(PLEC):c.13242C>T (p.Arg4414=) rs200589588 0.00014
NM_201384.3(PLEC):c.2477A>G (p.Asp826Gly) rs369344419 0.00014
NM_201384.3(PLEC):c.4587C>T (p.Arg1529=) rs369723574 0.00014
NM_201384.3(PLEC):c.772C>T (p.Leu258=) rs372233686 0.00014
NM_201525.4(ADGRG1):c.1188C>T (p.Asp396=) rs368883473 0.00014
NM_203475.3(PORCN):c.288C>T (p.Gly96=) rs200263603 0.00014
NM_206933.4(USH2A):c.1590A>T (p.Thr530=) rs144343161 0.00014
NM_000020.3(ACVRL1):c.465C>T (p.Ser155=) rs143735377 0.00013
NM_000023.4(SGCA):c.328C>T (p.Arg110Trp) rs200137051 0.00013
NM_000023.4(SGCA):c.408C>T (p.Ala136=) rs143551687 0.00013
NM_000023.4(SGCA):c.819G>T (p.Pro273=) rs35972733 0.00013
NM_000026.4(ADSL):c.735A>T (p.Arg245=) rs143977255 0.00013
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys) rs201958469 0.00013
NM_000059.4(BRCA2):c.502C>A (p.Pro168Thr) rs80358726 0.00013
NM_000071.3(CBS):c.1072G>A (p.Val358Met) rs148589243 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_000117.3(EMD):c.428C>T (p.Ser143Phe) rs139983160 0.00013
NM_000141.5(FGFR2):c.568C>T (p.Arg190Trp) rs147987917 0.00013
NM_000151.4(G6PC1):c.694G>A (p.Val232Ile) rs145172999 0.00013
NM_000152.5(GAA):c.1860C>T (p.Ser620=) rs370369972 0.00013
NM_000214.3(JAG1):c.2286C>T (p.Asn762=) rs144190443 0.00013
NM_000218.3(KCNQ1):c.759C>T (p.Ser253=) rs752457145 0.00013
NM_000255.4(MMUT):c.385+14G>A rs199992904 0.00013
NM_000271.5(NPC1):c.3558C>T (p.Arg1186=) rs141659629 0.00013
NM_000371.4(TTR):c.384C>T (p.Ala128=) rs143906738 0.00013
NM_000388.4(CASR):c.1287C>T (p.His429=) rs746515147 0.00013
NM_000392.5(ABCC2):c.2714G>A (p.Arg905Lys) rs201874841 0.00013
NM_000435.3(NOTCH3):c.3569G>A (p.Arg1190His) rs372241697 0.00013
NM_000440.3(PDE6A):c.594G>A (p.Val198=) rs398123394 0.00013
NM_000441.2(SLC26A4):c.1905G>A (p.Glu635=) rs541538556 0.00013
NM_000463.3(UGT1A1):c.1026A>T (p.Pro342=) rs747062491 0.00013
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr) rs201504674 0.00013
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His) rs768360593 0.00013
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala) rs45517284 0.00013
NM_000709.4(BCKDHA):c.663C>T (p.Tyr221=) rs151227241 0.00013
NM_000875.5(IGF1R):c.84G>A (p.Thr28=) rs372748482 0.00013
NM_001035.3(RYR2):c.14703G>C (p.Val4901=) rs201371633 0.00013
NM_001077365.2(POMT1):c.2061G>A (p.Ala687=) rs200916353 0.00013
NM_001079802.2(FKTN):c.1337A>G (p.Asn446Ser) rs374912618 0.00013
NM_001083961.2(WDR62):c.2766C>T (p.Arg922=) rs373906889 0.00013
NM_001105206.3(LAMA4):c.1673C>T (p.Ala558Val) rs137893207 0.00013
NM_001127644.2(GABRA1):c.85C>T (p.Pro29Ser) rs143815396 0.00013
NM_001130987.2(DYSF):c.5010C>T (p.Phe1670=) rs151276652 0.00013
NM_001134831.2(AHI1):c.2808A>G (p.Thr936=) rs373772212 0.00013
NM_001145809.2(MYH14):c.4740C>T (p.Asp1580=) rs751909208 0.00013
NM_001161352.2(KCNMA1):c.711C>T (p.Asn237=) rs139309224 0.00013
NM_001164508.2(NEB):c.1550A>G (p.Asn517Ser) rs199710125 0.00013
NM_001182.5(ALDH7A1):c.552C>T (p.Pro184=) rs369859575 0.00013
NM_001182.5(ALDH7A1):c.63T>C (p.Pro21=) rs368427726 0.00013
NM_001267550.2(TTN):c.10115-4G>A rs367648529 0.00013
NM_001267550.2(TTN):c.107089G>C (p.Glu35697Gln) rs199531140 0.00013
NM_001267550.2(TTN):c.14746A>G (p.Lys4916Glu) rs376597173 0.00013
NM_001267550.2(TTN):c.16091G>A (p.Arg5364His) rs200941841 0.00013
NM_001267550.2(TTN):c.1742C>T (p.Pro581Leu) rs199778910 0.00013
NM_001267550.2(TTN):c.25564G>A (p.Asp8522Asn) rs199619070 0.00013
NM_001267550.2(TTN):c.28131C>T (p.Asn9377=) rs72648997 0.00013
NM_001267550.2(TTN):c.28320C>T (p.Gly9440=) rs375083775 0.00013
NM_001267550.2(TTN):c.33059A>G (p.Tyr11020Cys) rs72650035 0.00013
NM_001267550.2(TTN):c.35037G>A (p.Pro11679=) rs369095270 0.00013
NM_001267550.2(TTN):c.39813A>G (p.Pro13271=) rs373429851 0.00013
NM_001267550.2(TTN):c.43417G>C (p.Asp14473His) rs397517573 0.00013
NM_001267550.2(TTN):c.49172G>A (p.Arg16391Gln) rs200944827 0.00013
NM_001267550.2(TTN):c.49758T>C (p.Tyr16586=) rs72677247 0.00013
NM_001267550.2(TTN):c.52331G>A (p.Arg17444His) rs376080116 0.00013
NM_001267550.2(TTN):c.54160G>C (p.Val18054Leu) rs200968679 0.00013
NM_001267550.2(TTN):c.54796G>T (p.Ala18266Ser) rs199837769 0.00013
NM_001267550.2(TTN):c.56456A>G (p.Asn18819Ser) rs201337786 0.00013
NM_001267550.2(TTN):c.6359G>A (p.Arg2120Gln) rs141142920 0.00013
NM_001267550.2(TTN):c.68640G>A (p.Lys22880=) rs370292933 0.00013
NM_001267550.2(TTN):c.75527G>A (p.Arg25176His) rs375693396 0.00013
NM_001267550.2(TTN):c.7711G>A (p.Glu2571Lys) rs149660690 0.00013
NM_001267550.2(TTN):c.80527T>C (p.Leu26843=) rs142004835 0.00013
NM_001267550.2(TTN):c.82981C>T (p.Pro27661Ser) rs201422612 0.00013
NM_001267550.2(TTN):c.8434G>C (p.Val2812Leu) rs146636599 0.00013
NM_001267550.2(TTN):c.85443A>G (p.Ala28481=) rs373326137 0.00013
NM_001267550.2(TTN):c.86355T>C (p.Asn28785=) rs745857020 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.92333C>G (p.Thr30778Arg) rs201019681 0.00013
NM_001267550.2(TTN):c.95094C>T (p.Ala31698=) rs373509153 0.00013
NM_001267550.2(TTN):c.96904+4T>C rs373514079 0.00013
NM_001267550.2(TTN):c.9707C>T (p.Pro3236Leu) rs146199720 0.00013
NM_001267550.2(TTN):c.97642C>T (p.Arg32548Cys) rs377599569 0.00013
NM_001267550.2(TTN):c.98605C>T (p.Arg32869Cys) rs186244950 0.00013
NM_001330078.2(NRXN1):c.2459G>A (p.Ser820Asn) rs80293130 0.00013
NM_001351132.2(PEX5):c.1559A>G (p.Asn520Ser) rs139364109 0.00013
NM_001371596.2(MFSD8):c.206C>T (p.Pro69Leu) rs147750747 0.00013
NM_001371928.1(AHDC1):c.2438G>A (p.Arg813His) rs138299564 0.00013
NM_001376256.1(CRYM):c.8G>T (p.Arg3Leu) rs149797560 0.00013
NM_001384140.1(PCDH15):c.1548G>A (p.Val516=) rs138177808 0.00013
NM_001384140.1(PCDH15):c.1900G>A (p.Val634Ile) rs146199636 0.00013
NM_001848.3(COL6A1):c.2820G>A (p.Leu940=) rs111451684 0.00013
NM_001849.4(COL6A2):c.1836C>T (p.Gly612=) rs141257132 0.00013
NM_001849.4(COL6A2):c.219C>T (p.Phe73=) rs374336669 0.00013
NM_001849.4(COL6A2):c.2244C>T (p.Cys748=) rs201426778 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_002437.5(MPV17):c.61C>G (p.Leu21Val) rs200504529 0.00013
NM_002979.5(SCP2):c.15G>T (p.Pro5=) rs147697594 0.00013
NM_003106.4(SOX2):c.54G>C (p.Ser18=) rs757913217 0.00013
NM_003482.4(KMT2D):c.9482T>C (p.Met3161Thr) rs199831827 0.00013
NM_004006.3(DMD):c.357+5G>A rs778431187 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_004006.3(DMD):c.8706G>A (p.Arg2902=) rs899851642 0.00013
NM_004369.4(COL6A3):c.5501-4C>G rs143237699 0.00013
NM_004380.3(CREBBP):c.2526G>A (p.Gln842=) rs141775567 0.00013
NM_004380.3(CREBBP):c.5747T>C (p.Met1916Thr) rs559294915 0.00013
NM_004530.6(MMP2):c.932C>T (p.Thr311Met) rs572726028 0.00013
NM_004817.4(TJP2):c.3063C>T (p.Ala1021=) rs367977493 0.00013
NM_004817.4(TJP2):c.911G>A (p.Gly304Glu) rs200222645 0.00013
NM_005045.4(RELN):c.8634A>G (p.Ser2878=) rs377429197 0.00013
NM_005476.7(GNE):c.804G>A (p.Lys268=) rs141814943 0.00013
NM_005477.3(HCN4):c.2025C>T (p.Ala675=) rs149033101 0.00013
NM_005477.3(HCN4):c.621C>G (p.Arg207=) rs727503958 0.00013
NM_005529.7(HSPG2):c.8076C>T (p.Gly2692=) rs372321167 0.00013
NM_005633.4(SOS1):c.3600C>G (p.Asp1200Glu) rs141594736 0.00013
NM_006005.3(WFS1):c.2398A>G (p.Lys800Glu) rs55674815 0.00013
NM_006031.6(PCNT):c.8947C>T (p.Leu2983Phe) rs372356069 0.00013
NM_006790.3(MYOT):c.1286C>G (p.Ala429Gly) rs144731446 0.00013
NM_012254.3(SLC27A5):c.1827G>A (p.Gly609=) rs143397900 0.00013
NM_012254.3(SLC27A5):c.553G>A (p.Val185Ile) rs757127359 0.00013
NM_012463.4(ATP6V0A2):c.118-7_118-3del rs777322469 0.00013
NM_013382.7(POMT2):c.1920C>T (p.Gly640=) rs150755807 0.00013
NM_014363.6(SACS):c.2643G>C (p.Glu881Asp) rs200517685 0.00013
NM_014363.6(SACS):c.8245A>G (p.Ile2749Val) rs186436335 0.00013
NM_015102.5(NPHP4):c.3174C>T (p.Thr1058=) rs374354239 0.00013
NM_015158.5(KANK1):c.95T>C (p.Phe32Ser) rs183362306 0.00013
NM_015192.4(PLCB1):c.2088C>T (p.Tyr696=) rs189186909 0.00013
NM_015272.5(RPGRIP1L):c.962G>A (p.Arg321His) rs183419371 0.00013
NM_015346.4(ZFYVE26):c.879G>A (p.Ser293=) rs199794711 0.00013
NM_016356.5(DCDC2):c.1066G>A (p.Ala356Thr) rs183480366 0.00013
NM_016356.5(DCDC2):c.349-9C>G rs765613994 0.00013
NM_017777.4(MKS1):c.1128G>A (p.Thr376=) rs369141016 0.00013
NM_017780.4(CHD7):c.240G>A (p.Met80Ile) rs199675125 0.00013
NM_017780.4(CHD7):c.3973T>C (p.Tyr1325His) rs377535841 0.00013
NM_017780.4(CHD7):c.90G>A (p.Pro30=) rs374464240 0.00013
NM_018941.4(CLN8):c.207G>A (p.Thr69=) rs368365607 0.00013
NM_020779.4(WDR35):c.2777A>G (p.Tyr926Cys) rs75602337 0.00013
NM_022124.6(CDH23):c.1803C>G (p.Val601=) rs201024982 0.00013
NM_022367.4(SEMA4A):c.1086A>C (p.Ser362=) rs145993678 0.00013
NM_024408.4(NOTCH2):c.4929G>A (p.Thr1643=) rs587697719 0.00013
NM_024649.5(BBS1):c.1474-8C>T rs398124402 0.00013
NM_024685.4(BBS10):c.372T>A (p.Ser124=) rs143366878 0.00013
NM_024757.5(EHMT1):c.2039C>T (p.Ser680Leu) rs147523309 0.00013
NM_025074.7(FRAS1):c.10128C>T (p.His3376=) rs369331788 0.00013
NM_032119.4(ADGRV1):c.5264C>T (p.Ala1755Val) rs185971062 0.00013
NM_032119.4(ADGRV1):c.6229G>A (p.Glu2077Lys) rs200372116 0.00013
NM_033056.4(PCDH15):c.4677G>A (p.Lys1559=) rs375077719 0.00013
NM_057176.3(BSND):c.102C>T (p.Tyr34=) rs141403253 0.00013
NM_057176.3(BSND):c.16A>G (p.Thr6Ala) rs201342416 0.00013
NM_133379.5(TTN):c.15314G>A (p.Arg5105Gln) rs146359866 0.00013
NM_138694.4(PKHD1):c.2637G>A (p.Thr879=) rs147915980 0.00013
NM_138694.4(PKHD1):c.831C>T (p.Ile277=) rs142678486 0.00013
NM_138694.4(PKHD1):c.9663G>A (p.Pro3221=) rs371508721 0.00013
NM_153638.4(PANK2):c.12C>T (p.Leu4=) rs774784800 0.00013
NM_172107.4(KCNQ2):c.1814C>G (p.Thr605Ser) rs751334184 0.00013
NM_182961.4(SYNE1):c.12615G>A (p.Ser4205=) rs138650597 0.00013
NM_182961.4(SYNE1):c.19026C>T (p.Asp6342=) rs370053768 0.00013
NM_182961.4(SYNE1):c.20070G>C (p.Thr6690=) rs141263831 0.00013
NM_182961.4(SYNE1):c.21612C>T (p.Pro7204=) rs141170182 0.00013
NM_182961.4(SYNE1):c.21876A>G (p.Gly7292=) rs375826346 0.00013
NM_182961.4(SYNE1):c.6908C>T (p.Thr2303Met) rs190867604 0.00013
NM_182961.4(SYNE1):c.8839C>G (p.Leu2947Val) rs756300560 0.00013
NM_201384.3(PLEC):c.6096G>C (p.Ser2032=) rs564245730 0.00013
NM_201384.3(PLEC):c.6786G>A (p.Thr2262=) rs373922545 0.00013
NM_201384.3(PLEC):c.7193G>A (p.Arg2398His) rs368343687 0.00013
NM_201384.3(PLEC):c.7194C>T (p.Arg2398=) rs541134948 0.00013
NM_201384.3(PLEC):c.9294C>T (p.Ala3098=) rs376753842 0.00013
NM_206933.4(USH2A):c.10341C>T (p.Ala3447=) rs372015149 0.00013
NM_206933.4(USH2A):c.6134A>G (p.His2045Arg) rs111033514 0.00013
NM_206933.4(USH2A):c.8016G>A (p.Leu2672=) rs368327746 0.00013
NM_206933.4(USH2A):c.9688G>A (p.Ala3230Thr) rs528342000 0.00013
NM_207361.6(FREM2):c.6743-9C>T rs749834830 0.00013
NM_000067.3(CA2):c.35-7C>A rs371766356 0.00012
NM_000070.3(CAPN3):c.552G>A (p.Thr184=) rs147808529 0.00012
NM_000152.5(GAA):c.663C>T (p.Ile221=) rs142878958 0.00012
NM_000179.3(MSH6):c.3203G>A (p.Arg1068Gln) rs398123230 0.00012
NM_000260.4(MYO7A):c.3297C>T (p.Pro1099=) rs367668576 0.00012
NM_000260.4(MYO7A):c.4441+7C>T rs372493678 0.00012
NM_000295.5(SERPINA1):c.918-4A>G rs367822021 0.00012
NM_000335.5(SCN5A):c.4908C>T (p.Ile1636=) rs200569112 0.00012
NM_000392.5(ABCC2):c.3081C>T (p.Tyr1027=) rs201212360 0.00012
NM_000548.5(TSC2):c.3919G>A (p.Glu1307Lys) rs62642481 0.00012
NM_000883.4(IMPDH1):c.1386G>A (p.Leu462=) rs144587211 0.00012
NM_001017995.3(SH3PXD2B):c.1542C>T (p.Pro514=) rs780292269 0.00012
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=) rs201236364 0.00012
NM_001127649.3(PEX26):c.668-5G>T rs767742108 0.00012
NM_001128178.3(NPHP1):c.1787C>T (p.Thr596Met) rs201460699 0.00012
NM_001145809.2(MYH14):c.4445G>A (p.Arg1482Gln) rs746594902 0.00012
NM_001199799.2(ILDR1):c.792G>A (p.Pro264=) rs186672543 0.00012
NM_001267550.2(TTN):c.1066G>C (p.Glu356Gln) rs144531477 0.00012
NM_001267550.2(TTN):c.107915G>T (p.Ser35972Ile) rs397517478 0.00012
NM_001267550.2(TTN):c.12404A>G (p.Asn4135Ser) rs565638291 0.00012
NM_001267550.2(TTN):c.12653T>C (p.Ile4218Thr) rs374631591 0.00012
NM_001267550.2(TTN):c.14813T>C (p.Phe4938Ser) rs560537668 0.00012
NM_001267550.2(TTN):c.17818T>C (p.Cys5940Arg) rs374882815 0.00012
NM_001267550.2(TTN):c.204C>T (p.Pro68=) rs201089861 0.00012
NM_001267550.2(TTN):c.25126C>T (p.Pro8376Ser) rs375209098 0.00012
NM_001267550.2(TTN):c.2731G>A (p.Val911Ile) rs141961878 0.00012
NM_001267550.2(TTN):c.30811A>G (p.Ile10271Val) rs182720979 0.00012
NM_001267550.2(TTN):c.33796C>T (p.Pro11266Ser) rs201120871 0.00012
NM_001267550.2(TTN):c.54321A>G (p.Ala18107=) rs368021072 0.00012
NM_001267550.2(TTN):c.55655G>A (p.Arg18552His) rs201774108 0.00012
NM_001267550.2(TTN):c.56850G>A (p.Val18950=) rs368068200 0.00012
NM_001267550.2(TTN):c.57242T>C (p.Ile19081Thr) rs78509062 0.00012
NM_001267550.2(TTN):c.59236G>A (p.Gly19746Ser) rs372802352 0.00012
NM_001267550.2(TTN):c.66917T>C (p.Ile22306Thr) rs397517667 0.00012
NM_001267550.2(TTN):c.67604G>A (p.Ser22535Asn) rs375676529 0.00012
NM_001267550.2(TTN):c.70651C>T (p.Leu23551=) rs72646889 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_001267550.2(TTN):c.81157T>A (p.Tyr27053Asn) rs776943572 0.00012
NM_001267550.2(TTN):c.81671A>G (p.Asn27224Ser) rs368443217 0.00012
NM_001267550.2(TTN):c.90227C>T (p.Thr30076Met) rs201998913 0.00012
NM_001267550.2(TTN):c.90691C>T (p.Pro30231Ser) rs373722546 0.00012
NM_001267550.2(TTN):c.92402C>T (p.Ala30801Val) rs372570504 0.00012
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys) rs775769503 0.00012
NM_001291867.2(NHS):c.1143C>T (p.Cys381=) rs727504042 0.00012
NM_001323289.2(CDKL5):c.1892T>C (p.Ile631Thr) rs144878564 0.00012
NM_001360.3(DHCR7):c.1091C>T (p.Thr364Met) rs567600444 0.00012
NM_001360.3(DHCR7):c.1410G>A (p.Leu470=) rs375993195 0.00012
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser) rs745404679 0.00012
NM_001374353.1(GLI2):c.4147G>T (p.Gly1383Cys) rs143914758 0.00012
NM_001376.5(DYNC1H1):c.10887C>T (p.Phe3629=) rs141133453 0.00012
NM_001848.3(COL6A1):c.726C>T (p.Asn242=) rs142102852 0.00012
NM_001853.4(COL9A3):c.1932C>T (p.Pro644=) rs550889206 0.00012
NM_002769.5(PRSS1):c.674A>G (p.Lys225Arg) rs541223359 0.00012
NM_002979.5(SCP2):c.1469-10T>C rs761545816 0.00012
NM_003392.7(WNT5A):c.427G>A (p.Ala143Thr) rs998033323 0.00012
NM_003482.4(KMT2D):c.6409A>G (p.Thr2137Ala) rs543241831 0.00012
NM_003742.4(ABCB11):c.48G>A (p.Glu16=) rs768192083 0.00012
NM_004004.6(GJB2):c.120A>C (p.Ala40=) rs561870637 0.00012
NM_004006.3(DMD):c.4605G>A (p.Thr1535=) rs374871728 0.00012
NM_004006.3(DMD):c.7820A>T (p.Lys2607Met) rs72466581 0.00012
NM_004369.4(COL6A3):c.3063A>G (p.Pro1021=) rs200098134 0.00012
NM_004369.4(COL6A3):c.6798C>T (p.Thr2266=) rs116541926 0.00012
NM_004380.3(CREBBP):c.6090G>A (p.Gln2030=) rs374969185 0.00012
NM_004530.6(MMP2):c.380+10C>T rs545069128 0.00012
NM_004560.4(ROR2):c.2286G>A (p.Ser762=) rs143759440 0.00012
NM_004560.4(ROR2):c.2445G>A (p.Pro815=) rs202010959 0.00012
NM_004817.4(TJP2):c.1656A>G (p.Gly552=) rs150723764 0.00012
NM_005379.4(MYO1A):c.2872A>G (p.Ser958Gly) rs184810732 0.00012
NM_006005.3(WFS1):c.728C>T (p.Ala243Val) rs147147660 0.00012
NM_006302.3(MOGS):c.249C>G (p.Ala83=) rs764778419 0.00012
NM_006306.4(SMC1A):c.861G>A (p.Lys287=) rs782543093 0.00012
NM_006383.4(CIB2):c.192G>A (p.Glu64=) rs145415848 0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_014714.4(IFT140):c.2551G>A (p.Val851Met) rs754753583 0.00012
NM_014795.4(ZEB2):c.2084G>A (p.Arg695Gln) rs147693839 0.00012
NM_015102.5(NPHP4):c.279+6C>T rs199856317 0.00012
NM_015295.3(SMCHD1):c.2025G>A (p.Glu675=) rs766575963 0.00012
NM_015346.4(ZFYVE26):c.2742C>T (p.Ser914=) rs140577908 0.00012
NM_017739.4(POMGNT1):c.652+6G>A rs369289384 0.00012
NM_017777.4(MKS1):c.515+8C>T rs376823839 0.00012
NM_017780.4(CHD7):c.277A>G (p.Thr93Ala) rs398124317 0.00012
NM_017780.4(CHD7):c.5310T>C (p.Asp1770=) rs377723386 0.00012
NM_017780.4(CHD7):c.8193C>T (p.Ala2731=) rs534427466 0.00012
NM_018389.5(SLC35C1):c.663G>A (p.Pro221=) rs111773874 0.00012
NM_018699.4(PRDM5):c.1605C>T (p.His535=) rs150476884 0.00012
NM_019098.5(CNGB3):c.1833C>T (p.His611=) rs368787128 0.00012
NM_020754.4(ARHGAP31):c.499G>A (p.Ala167Thr) rs139733647 0.00012
NM_020822.3(KCNT1):c.1899G>A (p.Ser633=) rs371135108 0.00012
NM_022437.3(ABCG8):c.578C>T (p.Ala193Val) rs376362072 0.00012
NM_022455.5(NSD1):c.8048A>G (p.Gln2683Arg) rs374110615 0.00012
NM_024301.5(FKRP):c.954C>T (p.Cys318=) rs755968761 0.00012
NM_024408.4(NOTCH2):c.786T>C (p.Asp262=) rs374224226 0.00012
NM_025114.4(CEP290):c.1667T>A (p.Ile556Asn) rs727503854 0.00012
NM_030665.4(RAI1):c.3678G>A (p.Ser1226=) rs144290584 0.00012
NM_053025.4(MYLK):c.2629G>A (p.Val877Met) rs34542174 0.00012
NM_080680.3(COL11A2):c.4291C>T (p.Arg1431Trp) rs369126897 0.00012
NM_080680.3(COL11A2):c.889G>A (p.Gly297Ser) rs139116571 0.00012
NM_138694.4(PKHD1):c.5829C>T (p.Gly1943=) rs376709130 0.00012
NM_153240.5(NPHP3):c.3226C>T (p.Arg1076Trp) rs553665584 0.00012
NM_153603.4(COG7):c.2013G>A (p.Leu671=) rs370447404 0.00012
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) rs60890628 0.00012
NM_182961.4(SYNE1):c.13849A>C (p.Asn4617His) rs147667464 0.00012
NM_182961.4(SYNE1):c.23757G>A (p.Ser7919=) rs377113267 0.00012
NM_201384.3(PLEC):c.10130G>A (p.Arg3377Gln) rs375724891 0.00012
NM_201384.3(PLEC):c.3287G>A (p.Arg1096His) rs375617818 0.00012
NM_201384.3(PLEC):c.3368C>T (p.Pro1123Leu) rs376494828 0.00012
NM_201525.4(ADGRG1):c.487A>C (p.Ser163Arg) rs373741981 0.00012
NM_206933.4(USH2A):c.14517G>A (p.Thr4839=) rs397517991 0.00012
NM_207361.6(FREM2):c.1737C>T (p.Ile579=) rs144811771 0.00012
NM_000030.3(AGXT):c.1111G>A (p.Glu371Lys) rs369664123 0.00011
NM_000035.4(ALDOB):c.538C>A (p.Gln180Lys) rs574635615 0.00011
NM_000051.4(ATM):c.2346A>G (p.Leu782=) rs730881285 0.00011
NM_000070.3(CAPN3):c.1437C>T (p.Ser479=) rs147914333 0.00011
NM_000070.3(CAPN3):c.1521C>T (p.Tyr507=) rs370231427 0.00011
NM_000079.4(CHRNA1):c.948C>A (p.Ile316=) rs141733086 0.00011
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075 0.00011
NM_000110.4(DPYD):c.2303C>A (p.Thr768Lys) rs56005131 0.00011
NM_000141.5(FGFR2):c.289G>A (p.Ala97Thr) rs372430349 0.00011
NM_000214.3(JAG1):c.1146C>T (p.Asn382=) rs200133928 0.00011
NM_000214.3(JAG1):c.2917-7G>A rs201573066 0.00011
NM_000230.3(LEP):c.21C>T (p.Cys7=) rs201523305 0.00011
NM_000231.3(SGCG):c.102C>T (p.Arg34=) rs140810408 0.00011
NM_000251.3(MSH2):c.557A>G (p.Asn186Ser) rs151129360 0.00011
NM_000271.5(NPC1):c.3393C>T (p.Ile1131=) rs777356809 0.00011
NM_000286.3(PEX12):c.1002G>A (p.Arg334=) rs200283718 0.00011
NM_000295.5(SERPINA1):c.244G>A (p.Ala82Thr) rs113817720 0.00011
NM_000322.5(PRPH2):c.725A>G (p.Glu242Gly) rs542296728 0.00011
NM_000362.5(TIMP3):c.587G>A (p.Arg196Gln) rs142288050 0.00011
NM_000372.5(TYR):c.1161T>C (p.Leu387=) rs141967840 0.00011
NM_000388.4(CASR):c.854G>A (p.Arg285Gln) rs200039241 0.00011
NM_000391.4(TPP1):c.1653C>G (p.Pro551=) rs372564255 0.00011
NM_000392.5(ABCC2):c.3834G>A (p.Val1278=) rs150472537 0.00011
NM_000392.5(ABCC2):c.763C>T (p.Arg255Trp) rs147494662 0.00011
NM_000443.4(ABCB4):c.2047G>A (p.Val683Met) rs776616540 0.00011
NM_000463.3(UGT1A1):c.189C>T (p.Asp63=) rs191471887 0.00011
NM_000503.6(EYA1):c.325T>C (p.Tyr109His) rs141779040 0.00011
NM_000540.3(RYR1):c.8073C>T (p.Tyr2691=) rs202160739 0.00011
NM_000543.5(SMPD1):c.349G>A (p.Val117Met) rs202206564 0.00011
NM_000543.5(SMPD1):c.729C>T (p.Ala243=) rs149476159 0.00011
NM_000744.7(CHRNA4):c.1715A>G (p.Gln572Arg) rs113794453 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_001015877.2(PHF6):c.414C>T (p.Ser138=) rs200423380 0.00011
NM_001017995.3(SH3PXD2B):c.1398C>T (p.Pro466=) rs140209484 0.00011
NM_001040142.2(SCN2A):c.5121G>A (p.Leu1707=) rs377063535 0.00011
NM_001077365.2(POMT1):c.568C>T (p.Leu190=) rs752931210 0.00011
NM_001077365.2(POMT1):c.921G>T (p.Leu307=) rs371243573 0.00011
NM_001101426.4(CRPPA):c.123G>C (p.Gly41=) rs761842188 0.00011
NM_001101426.4(CRPPA):c.243A>G (p.Leu81=) rs763209907 0.00011
NM_001110556.2(FLNA):c.3708C>T (p.Gly1236=) rs200363918 0.00011
NM_001110556.2(FLNA):c.6227-7C>T rs370491691 0.00011
NM_001110556.2(FLNA):c.6993C>T (p.Asp2331=) rs201153928 0.00011
NM_001122955.4(BSCL2):c.588C>T (p.Cys196=) rs369806785 0.00011
NM_001123385.2(BCOR):c.4320T>C (p.Pro1440=) rs753786462 0.00011
NM_001126121.2(SLC25A19):c.565G>A (p.Ala189Thr) rs144393784 0.00011
NM_001127222.2(CACNA1A):c.1782-6C>T rs201350764 0.00011
NM_001130987.2(DYSF):c.2864+8G>A rs371686795 0.00011
NM_001134831.2(AHI1):c.1680A>G (p.Pro560=) rs200949030 0.00011
NM_001161352.2(KCNMA1):c.24C>T (p.Gly8=) rs748427000 0.00011
NM_001165963.4(SCN1A):c.1680T>C (p.Arg560=) rs145662732 0.00011
NM_001165963.4(SCN1A):c.1739G>A (p.Arg580Gln) rs544692790 0.00011
NM_001165963.4(SCN1A):c.379C>G (p.His127Asp) rs148442069 0.00011
NM_001165963.4(SCN1A):c.4129A>G (p.Ile1377Val) rs762317674 0.00011
NM_001165963.4(SCN1A):c.5639G>A (p.Gly1880Glu) rs201905405 0.00011
NM_001182.5(ALDH7A1):c.1263G>A (p.Ala421=) rs587780850 0.00011
NM_001184880.2(PCDH19):c.2965A>C (p.Asn989His) rs201611496 0.00011
NM_001191061.2(SLC25A22):c.414C>T (p.Ala138=) rs199887745 0.00011
NM_001191061.2(SLC25A22):c.834C>T (p.His278=) rs187824231 0.00011
NM_001199397.3(NEK1):c.594A>G (p.Thr198=) rs373252814 0.00011
NM_001267550.2(TTN):c.100417G>A (p.Gly33473Ser) rs397517783 0.00011
NM_001267550.2(TTN):c.105940G>A (p.Ala35314Thr) rs377171054 0.00011
NM_001267550.2(TTN):c.106121T>A (p.Phe35374Tyr) rs727504609 0.00011
NM_001267550.2(TTN):c.106442A>G (p.Lys35481Arg) rs200716018 0.00011
NM_001267550.2(TTN):c.11338G>A (p.Glu3780Lys) rs727504586 0.00011
NM_001267550.2(TTN):c.1449C>T (p.Ala483=) rs141617218 0.00011
NM_001267550.2(TTN):c.16121G>A (p.Cys5374Tyr) rs375577529 0.00011
NM_001267550.2(TTN):c.16551G>A (p.Ser5517=) rs376037792 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.19715-4A>G rs375009631 0.00011
NM_001267550.2(TTN):c.19881G>A (p.Ser6627=) rs371495674 0.00011
NM_001267550.2(TTN):c.227G>C (p.Gly76Ala) rs138750421 0.00011
NM_001267550.2(TTN):c.25660A>G (p.Lys8554Glu) rs201945791 0.00011
NM_001267550.2(TTN):c.27328+5G>A rs397517521 0.00011
NM_001267550.2(TTN):c.43G>A (p.Val15Ile) rs201857541 0.00011
NM_001267550.2(TTN):c.48353A>G (p.Asp16118Gly) rs376273101 0.00011
NM_001267550.2(TTN):c.50452G>A (p.Glu16818Lys) rs397517600 0.00011
NM_001267550.2(TTN):c.50858-3C>T rs587782987 0.00011
NM_001267550.2(TTN):c.51712C>T (p.Pro17238Ser) rs773035917 0.00011
NM_001267550.2(TTN):c.55378A>G (p.Thr18460Ala) rs727503600 0.00011
NM_001267550.2(TTN):c.62507G>A (p.Arg20836Gln) rs201693851 0.00011
NM_001267550.2(TTN):c.63775G>A (p.Val21259Ile) rs371286595 0.00011
NM_001267550.2(TTN):c.66051G>A (p.Val22017=) rs587780981 0.00011
NM_001267550.2(TTN):c.66123A>G (p.Pro22041=) rs727504190 0.00011
NM_001267550.2(TTN):c.66703G>A (p.Val22235Ile) rs751354601 0.00011
NM_001267550.2(TTN):c.68161G>A (p.Glu22721Lys) rs374492812 0.00011
NM_001267550.2(TTN):c.73334C>T (p.Thr24445Ile) rs377334665 0.00011
NM_001267550.2(TTN):c.73994C>T (p.Thr24665Met) rs144398602 0.00011
NM_001267550.2(TTN):c.75914C>T (p.Pro25305Leu) rs142453163 0.00011
NM_001267550.2(TTN):c.80553C>T (p.Phe26851=) rs189790119 0.00011
NM_001267550.2(TTN):c.85275T>C (p.Thr28425=) rs376484117 0.00011
NM_001267550.2(TTN):c.88496T>G (p.Leu29499Arg) rs72648234 0.00011
NM_001267550.2(TTN):c.91399C>T (p.Arg30467Cys) rs775591945 0.00011
NM_001267550.2(TTN):c.93214C>T (p.Arg31072Cys) rs368932767 0.00011
NM_001267550.2(TTN):c.93254C>T (p.Pro31085Leu) rs549841864 0.00011
NM_001267550.2(TTN):c.94980A>G (p.Glu31660=) rs370769662 0.00011
NM_001267550.2(TTN):c.98556T>C (p.Gly32852=) rs373853269 0.00011
NM_001267550.2(TTN):c.99982G>A (p.Val33328Met) rs372302484 0.00011
NM_001287.6(CLCN7):c.1137C>T (p.Ile379=) rs749315456 0.00011
NM_001347702.2(SYNE1):c.1464T>G (p.Pro488=) rs770649913 0.00011
NM_001351132.2(PEX5):c.258C>T (p.Asp86=) rs144351488 0.00011
NM_001351132.2(PEX5):c.753+10T>C rs373242881 0.00011
NM_001378120.1(MBD5):c.2279A>G (p.His760Arg) rs763275881 0.00011
NM_001378615.1(CC2D2A):c.2163G>A (p.Pro721=) rs768337150 0.00011
NM_001378615.1(CC2D2A):c.332C>T (p.Ala111Val) rs137878385 0.00011
NM_001378615.1(CC2D2A):c.603C>T (p.Pro201=) rs556542553 0.00011
NM_001379081.2(FREM1):c.5155G>A (p.Val1719Met) rs201617511 0.00011
NM_001429.4(EP300):c.2787A>G (p.Ala929=) rs143690368 0.00011
NM_001429.4(EP300):c.6315C>T (p.Gly2105=) rs528866215 0.00011
NM_001453.3(FOXC1):c.474C>T (p.Ser158=) rs369346224 0.00011
NM_001692.4(ATP6V1B1):c.1276G>A (p.Val426Met) rs531239712 0.00011
NM_001793.6(CDH3):c.2042G>A (p.Arg681Gln) rs758614807 0.00011
NM_001845.6(COL4A1):c.2570C>T (p.Ser857Leu) rs145861489 0.00011
NM_001848.3(COL6A1):c.2418C>T (p.Thr806=) rs760768642 0.00011
NM_001848.3(COL6A1):c.624G>A (p.Thr208=) rs573282005 0.00011
NM_001849.4(COL6A2):c.1720G>C (p.Val574Leu) rs142021066 0.00011
NM_001849.4(COL6A2):c.2580G>A (p.Ala860=) rs146420786 0.00011
NM_001849.4(COL6A2):c.2798G>A (p.Arg933His) rs374384263 0.00011
NM_001849.4(COL6A2):c.2922G>A (p.Leu974=) rs556385546 0.00011
NM_001966.4(EHHADH):c.1563G>A (p.Val521=) rs138858065 0.00011
NM_001966.4(EHHADH):c.621C>G (p.Pro207=) rs139788883 0.00011
NM_002506.3(NGF):c.191C>T (p.Ala64Val) rs201087374 0.00011
NM_002693.3(POLG):c.1066C>T (p.Leu356=) rs371431444 0.00011
NM_002693.3(POLG):c.1389G>A (p.Leu463=) rs150828914 0.00011
NM_003482.4(KMT2D):c.15694A>G (p.Ile5232Val) rs199593058 0.00011
NM_003482.4(KMT2D):c.2547G>A (p.Ser849=) rs398123738 0.00011
NM_003640.5(ELP1):c.1704A>G (p.Ser568=) rs138192941 0.00011
NM_003742.4(ABCB11):c.235G>A (p.Val79Met) rs371965391 0.00011
NM_003742.4(ABCB11):c.2757C>A (p.Thr919=) rs374465656 0.00011
NM_003742.4(ABCB11):c.3411+9C>T rs201287126 0.00011
NM_003835.4(RGS9):c.69C>T (p.Leu23=) rs373346845 0.00011
NM_004006.3(DMD):c.295A>G (p.Ile99Val) rs149428656 0.00011
NM_004006.3(DMD):c.7085C>A (p.Pro2362Gln) rs141151675 0.00011
NM_004369.4(COL6A3):c.3507C>T (p.Asn1169=) rs138426138 0.00011
NM_004369.4(COL6A3):c.5394C>T (p.Arg1798=) rs202086524 0.00011
NM_004369.4(COL6A3):c.843G>T (p.Val281=) rs376201065 0.00011
NM_004369.4(COL6A3):c.9147C>T (p.Leu3049=) rs183247300 0.00011
NM_004380.3(CREBBP):c.4280+8T>C rs376814421 0.00011
NM_004393.6(DAG1):c.1690C>A (p.Leu564Ile) rs199894361 0.00011
NM_004565.3(PEX14):c.1101C>T (p.Pro367=) rs146053705 0.00011
NM_004643.4(PABPN1):c.787C>A (p.Arg263=) rs886044639 0.00011
NM_004817.4(TJP2):c.1506T>C (p.Asp502=) rs139354927 0.00011
NM_004817.4(TJP2):c.2270C>T (p.Thr757Ile) rs189443180 0.00011
NM_004817.4(TJP2):c.2751C>T (p.Arg917=) rs184519036 0.00011
NM_004977.3(KCNC3):c.23C>G (p.Ser8Trp) rs761806977 0.00011
NM_005379.4(MYO1A):c.1961G>A (p.Arg654Gln) rs147147276 0.00011
NM_005379.4(MYO1A):c.2684T>C (p.Met895Thr) rs148582008 0.00011
NM_005529.7(HSPG2):c.2766C>G (p.Leu922=) rs375290305 0.00011
NM_006015.6(ARID1A):c.1175C>A (p.Pro392His) rs199906671 0.00011
NM_006445.4(PRPF8):c.2235C>G (p.Ala745=) rs727504109 0.00011
NM_006790.3(MYOT):c.594G>A (p.Val198=) rs372287923 0.00011
NM_007078.3(LDB3):c.342C>T (p.Asn114=) rs151166414 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_007317.3(KIF22):c.549+8C>A rs374331057 0.00011
NM_012210.4(TRIM32):c.330A>G (p.Gln110=) rs770015462 0.00011
NM_014141.6(CNTNAP2):c.1777+7G>A rs770951811 0.00011
NM_014714.4(IFT140):c.3874-10A>C rs761503137 0.00011
NM_014780.5(CUL7):c.3834C>T (p.Gly1278=) rs141756281 0.00011
NM_015102.5(NPHP4):c.2029C>T (p.Pro677Ser) rs547495754 0.00011
NM_015404.4(WHRN):c.2112G>T (p.Leu704=) rs535492772 0.00011
NM_015629.4(PRPF31):c.138T>C (p.Asp46=) rs76251057 0.00011
NM_017739.4(POMGNT1):c.960C>G (p.Arg320=) rs146933218 0.00011
NM_018136.5(ASPM):c.1185A>G (p.Gln395=) rs183395856 0.00011
NM_018136.5(ASPM):c.933C>G (p.Ser311Arg) rs563858170 0.00011
NM_020223.4(FAM20C):c.174C>A (p.Pro58=) rs567930512 0.00011
NM_020754.4(ARHGAP31):c.2216C>T (p.Pro739Leu) rs200598971 0.00011
NM_024301.5(FKRP):c.54T>A (p.Leu18=) rs565563742 0.00011
NM_024408.4(NOTCH2):c.6957G>A (p.Ala2319=) rs369891453 0.00011
NM_024596.5(MCPH1):c.1561G>T (p.Glu521Ter) rs572671721 0.00011
NM_024757.5(EHMT1):c.298G>A (p.Asp100Asn) rs540121859 0.00011
NM_025074.7(FRAS1):c.2862G>A (p.Thr954=) rs144065807 0.00011
NM_025193.4(HSD3B7):c.7G>A (p.Asp3Asn) rs200555135 0.00011
NM_031433.4(MFRP):c.159T>C (p.Gly53=) rs372897338 0.00011
NM_032043.3(BRIP1):c.249A>G (p.Gln83=) rs45528833 0.00011
NM_032119.4(ADGRV1):c.12818A>G (p.His4273Arg) rs201480340 0.00011
NM_032119.4(ADGRV1):c.13496G>A (p.Arg4499His) rs375122809 0.00011
NM_032119.4(ADGRV1):c.15334C>T (p.Arg5112Cys) rs372400654 0.00011
NM_032119.4(ADGRV1):c.155G>A (p.Arg52His) rs199798095 0.00011
NM_032119.4(ADGRV1):c.18879C>T (p.Ile6293=) rs372350188 0.00011
NM_032119.4(ADGRV1):c.7806C>G (p.Pro2602=) rs200241260 0.00011
NM_032119.4(ADGRV1):c.8401G>A (p.Gly2801Arg) rs760510612 0.00011
NM_032119.4(ADGRV1):c.9631T>C (p.Ser3211Pro) rs766184763 0.00011
NM_033100.4(CDHR1):c.833C>T (p.Pro278Leu) rs543254581 0.00011
NM_080680.3(COL11A2):c.4149A>G (p.Thr1383=) rs746019545 0.00011
NM_133379.5(TTN):c.13412G>C (p.Gly4471Ala) rs145919543 0.00011
NM_138694.4(PKHD1):c.1974C>T (p.Phe658=) rs199635188 0.00011
NM_145239.3(PRRT2):c.879+6C>A rs201887920 0.00011
NM_145691.4(ATPAF2):c.241G>A (p.Val81Ile) rs371136012 0.00011
NM_152564.5(VPS13B):c.5741G>A (p.Arg1914Gln) rs150272676 0.00011
NM_170699.3(GPBAR1):c.333C>T (p.Tyr111=) rs201129128 0.00011
NM_170707.4(LMNA):c.1314G>A (p.Gly438=) rs774817302 0.00011
NM_172107.4(KCNQ2):c.1301+7C>T rs374877247 0.00011
NM_172364.5(CACNA2D4):c.1807-4del rs756122685 0.00011
NM_173495.3(PTCHD1):c.1110C>G (p.Asp370Glu) rs369968343 0.00011
NM_175875.5(SIX5):c.714C>G (p.Thr238=) rs758444909 0.00011
NM_182961.4(SYNE1):c.17175C>T (p.Thr5725=) rs200002217 0.00011
NM_182961.4(SYNE1):c.19972A>G (p.Lys6658Glu) rs376891338 0.00011
NM_201384.3(PLEC):c.10743C>T (p.Gly3581=) rs375573910 0.00011
NM_201384.3(PLEC):c.11077G>A (p.Ala3693Thr) rs369497741 0.00011
NM_201384.3(PLEC):c.13471A>G (p.Thr4491Ala) rs782756146 0.00011
NM_201384.3(PLEC):c.2064G>A (p.Pro688=) rs374590279 0.00011
NM_201384.3(PLEC):c.5948G>A (p.Arg1983His) rs527947459 0.00011
NM_201384.3(PLEC):c.6240C>T (p.Arg2080=) rs576688705 0.00011
NM_201384.3(PLEC):c.6248C>T (p.Ala2083Val) rs781878105 0.00011
NM_201384.3(PLEC):c.6841G>A (p.Ala2281Thr) rs200618217 0.00011
NM_201384.3(PLEC):c.7082C>T (p.Thr2361Met) rs369522291 0.00011
NM_201384.3(PLEC):c.7926G>A (p.Pro2642=) rs201098035 0.00011
NM_205850.3(SLC24A5):c.534G>A (p.Ala178=) rs138902406 0.00011
NM_000057.4(BLM):c.1086C>T (p.Asp362=) rs375632163 0.00010
NM_000137.4(FAH):c.648C>A (p.Ile216=) rs147016995 0.00010
NM_000152.5(GAA):c.1920T>G (p.Pro640=) rs144090460 0.00010
NM_000163.5(GHR):c.195A>G (p.Ser65=) rs140501920 0.00010
NM_000163.5(GHR):c.585A>G (p.Gln195=) rs6413483 0.00010
NM_000208.4(INSR):c.1665T>C (p.Ser555=) rs149795690 0.00010
NM_000257.4(MYH7):c.1191G>A (p.Lys397=) rs139506719 0.00010
NM_000303.3(PMM2):c.441C>T (p.Leu147=) rs146990448 0.00010
NM_000337.6(SGCD):c.394G>A (p.Val132Ile) rs367819390 0.00010
NM_000337.6(SGCD):c.402T>C (p.Ala134=) rs190935424 0.00010
NM_000337.6(SGCD):c.793G>A (p.Val265Ile) rs772185467 0.00010
NM_000384.3(APOB):c.8661T>C (p.Thr2887=) rs144023029 0.00010
NM_000452.3(SLC10A2):c.654C>T (p.Ser218=) rs140050923 0.00010
NM_000514.4(GDNF):c.138G>A (p.Ala46=) rs375385439 0.00010
NM_000540.3(RYR1):c.7433C>A (p.Thr2478Asn) rs141298868 0.00010
NM_000548.5(TSC2):c.619G>A (p.Val207Ile) rs139929314 0.00010
NM_000553.6(WRN):c.2067C>T (p.Ser689=) rs191757062 0.00010
NM_000717.5(CA4):c.923C>A (p.Ala308Asp) rs201580764 0.00010
NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=) rs563090568 0.00010
NM_000751.3(CHRND):c.1125G>A (p.Val375=) rs143246852 0.00010
NM_001029883.3(PCARE):c.2191G>A (p.Val731Ile) rs201790782 0.00010
NM_001034853.2(RPGR):c.36T>G (p.Gly12=) rs769123303 0.00010
NM_001040142.2(SCN2A):c.5752C>T (p.Arg1918Cys) rs139899756 0.00010
NM_001077365.2(POMT1):c.1303G>A (p.Val435Ile) rs377304621 0.00010
NM_001077365.2(POMT1):c.330C>G (p.Leu110=) rs138064523 0.00010
NM_001110556.2(FLNA):c.6804T>C (p.Ala2268=) rs376461465 0.00010
NM_001123385.2(BCOR):c.837C>T (p.Leu279=) rs753531268 0.00010
NM_001127644.2(GABRA1):c.*2T>A rs762836110 0.00010
NM_001127671.2(LIFR):c.2280G>A (p.Leu760=) rs370455274 0.00010
NM_001128178.3(NPHP1):c.*1C>T rs376898832 0.00010
NM_001130987.2(DYSF):c.1149T>G (p.Pro383=) rs199955501 0.00010
NM_001161352.2(KCNMA1):c.414G>A (p.Ala138=) rs61736948 0.00010
NM_001164508.2(NEB):c.2573C>T (p.Ala858Val) rs372217127 0.00010
NM_001165963.4(SCN1A):c.597A>G (p.Thr199=) rs398123600 0.00010
NM_001199107.2(TBC1D24):c.1620C>T (p.Ser540=) rs781723084 0.00010
NM_001267550.2(TTN):c.105876G>A (p.Leu35292=) rs372521529 0.00010
NM_001267550.2(TTN):c.106820C>T (p.Ala35607Val) rs377337528 0.00010
NM_001267550.2(TTN):c.13090G>A (p.Val4364Met) rs201506104 0.00010
NM_001267550.2(TTN):c.1333G>A (p.Ala445Thr) rs142414432 0.00010
NM_001267550.2(TTN):c.13479T>G (p.Pro4493=) rs368698752 0.00010
NM_001267550.2(TTN):c.15086G>A (p.Arg5029Gln) rs200792058 0.00010
NM_001267550.2(TTN):c.18295C>T (p.Leu6099Phe) rs370109572 0.00010
NM_001267550.2(TTN):c.18557C>T (p.Thr6186Met) rs200359082 0.00010
NM_001267550.2(TTN):c.18663A>C (p.Glu6221Asp) rs369544339 0.00010
NM_001267550.2(TTN):c.19996C>T (p.Pro6666Ser) rs571231816 0.00010
NM_001267550.2(TTN):c.22545C>G (p.Pro7515=) rs373496180 0.00010
NM_001267550.2(TTN):c.25570G>A (p.Gly8524Arg) rs371512914 0.00010
NM_001267550.2(TTN):c.3035G>A (p.Arg1012Gln) rs368885310 0.00010
NM_001267550.2(TTN):c.33561G>T (p.Val11187=) rs763629416 0.00010
NM_001267550.2(TTN):c.36708A>T (p.Glu12236Asp) rs796478043 0.00010
NM_001267550.2(TTN):c.4150G>T (p.Ala1384Ser) rs144609506 0.00010
NM_001267550.2(TTN):c.44036G>A (p.Arg14679Gln) rs369709751 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.57544+7dup rs750881309 0.00010
NM_001267550.2(TTN):c.59248G>A (p.Gly19750Ser) rs200732032 0.00010
NM_001267550.2(TTN):c.65746C>T (p.Arg21916Trp) rs200155485 0.00010
NM_001267550.2(TTN):c.7339G>A (p.Val2447Met) rs779064962 0.00010
NM_001267550.2(TTN):c.7469G>A (p.Arg2490His) rs148920986 0.00010
NM_001267550.2(TTN):c.80854G>A (p.Val26952Ile) rs371362606 0.00010
NM_001267550.2(TTN):c.80983G>A (p.Glu26995Lys) rs397517719 0.00010
NM_001267550.2(TTN):c.82754C>A (p.Ser27585Tyr) rs72648215 0.00010
NM_001267550.2(TTN):c.89018G>A (p.Arg29673Gln) rs200639218 0.00010
NM_001267550.2(TTN):c.91434A>C (p.Glu30478Asp) rs373900294 0.00010
NM_001267550.2(TTN):c.93981C>G (p.Val31327=) rs370894846 0.00010
NM_001323289.2(CDKL5):c.2200A>G (p.Thr734Ala) rs55803460 0.00010
NM_001330078.2(NRXN1):c.3489C>T (p.Ala1163=) rs147580960 0.00010
NM_001369.3(DNAH5):c.11322C>T (p.Ser3774=) rs267600357 0.00010
NM_001369268.1(ACAN):c.894C>T (p.Ser298=) rs576947078 0.00010
NM_001376.5(DYNC1H1):c.13557G>A (p.Ala4519=) rs35546990 0.00010
NM_001378414.1(HDAC4):c.2346C>T (p.Cys782=) rs144099208 0.00010
NM_001378454.1(ALMS1):c.6537C>T (p.Thr2179=) rs371511963 0.00010
NM_001384140.1(PCDH15):c.521A>G (p.Asn174Ser) rs145037203 0.00010
NM_001414.4(EIF2B1):c.735C>T (p.Asp245=) rs776489281 0.00010
NM_001849.4(COL6A2):c.1269G>C (p.Pro423=) rs144136807 0.00010
NM_001849.4(COL6A2):c.189G>A (p.Thr63=) rs143583433 0.00010
NM_001851.6(COL9A1):c.462A>G (p.Val154=) rs150571620 0.00010
NM_001854.4(COL11A1):c.2322G>A (p.Lys774=) rs140608161 0.00010
NM_001927.4(DES):c.1257C>T (p.Pro419=) rs143154982 0.00010
NM_001927.4(DES):c.216C>A (p.Ser72Arg) rs375719734 0.00010
NM_001966.4(EHHADH):c.1063G>A (p.Gly355Ser) rs150744159 0.00010
NM_002335.4(LRP5):c.4643G>T (p.Cys1548Phe) rs147618989 0.00010
NM_002473.6(MYH9):c.2679C>A (p.Thr893=) rs145476120 0.00010
NM_002693.3(POLG):c.2724C>T (p.Ala908=) rs377390914 0.00010
NM_002768.5(CHMP1A):c.147C>T (p.Ala49=) rs200606123 0.00010
NM_003742.4(ABCB11):c.2783G>A (p.Arg928Gln) rs200488448 0.00010
NM_004006.3(DMD):c.2183T>C (p.Ile728Thr) rs192004962 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_004006.3(DMD):c.7658G>A (p.Arg2553Gln) rs764127932 0.00010
NM_004369.4(COL6A3):c.3324C>T (p.Thr1108=) rs116239777 0.00010
NM_004369.4(COL6A3):c.543T>C (p.Asp181=) rs898779231 0.00010
NM_004493.3(HSD17B10):c.147C>G (p.Ala49=) rs367982176 0.00010
NM_004817.4(TJP2):c.2961G>A (p.Pro987=) rs371617466 0.00010
NM_004817.4(TJP2):c.334G>A (p.Ala112Thr) rs144396411 0.00010
NM_005045.4(RELN):c.5274G>T (p.Ala1758=) rs139102992 0.00010
NM_005476.7(GNE):c.1412-5C>T rs369078814 0.00010
NM_005477.3(HCN4):c.3117G>A (p.Pro1039=) rs749785521 0.00010
NM_005881.4(BCKDK):c.1104C>T (p.Phe368=) rs201614853 0.00010
NM_005902.4(SMAD3):c.1092C>T (p.Tyr364=) rs753875974 0.00010
NM_006031.6(PCNT):c.6635G>A (p.Arg2212Gln) rs201503338 0.00010
NM_012301.4(MAGI2):c.1737C>T (p.Asp579=) rs142555732 0.00010
NM_014141.6(CNTNAP2):c.755-5C>T rs369675346 0.00010
NM_014208.3(DSPP):c.2874T>C (p.Asn958=) rs374607352 0.00010
NM_014363.6(SACS):c.13036G>A (p.Asp4346Asn) rs372359781 0.00010
NM_014918.5(CHSY1):c.489G>A (p.Lys163=) rs146047900 0.00010
NM_014989.7(RIMS1):c.169G>C (p.Val57Leu) rs200005095 0.00010
NM_017534.6(MYH2):c.1959G>A (p.Val653=) rs376346567 0.00010
NM_017780.4(CHD7):c.6682G>A (p.Gly2228Arg) rs200907656 0.00010
NM_018668.5(VPS33B):c.1105+10G>A rs370555380 0.00010
NM_020822.3(KCNT1):c.1995C>T (p.Ile665=) rs757811625 0.00010
NM_022124.6(CDH23):c.4704C>T (p.Thr1568=) rs186866326 0.00010
NM_022436.3(ABCG5):c.300C>G (p.Ser100=) rs1212418813 0.00010
NM_022437.3(ABCG8):c.546C>T (p.Ala182=) rs774395087 0.00010
NM_022437.3(ABCG8):c.62C>T (p.Ser21Leu) rs144411000 0.00010
NM_022455.5(NSD1):c.1364T>C (p.Met455Thr) rs143585233 0.00010
NM_022464.5(SIL1):c.849C>T (p.Leu283=) rs372816951 0.00010
NM_024306.5(FA2H):c.844G>A (p.Gly282Ser) rs199815871 0.00010
NM_024408.4(NOTCH2):c.2196A>C (p.Gly732=) rs782101275 0.00010
NM_025074.7(FRAS1):c.237T>C (p.Ala79=) rs370345916 0.00010
NM_025074.7(FRAS1):c.4729A>T (p.Thr1577Ser) rs183594682 0.00010
NM_025219.3(DNAJC5):c.75C>T (p.Asn25=) rs189308547 0.00010
NM_031433.4(MFRP):c.1256-4G>A rs142533439 0.00010
NM_032119.4(ADGRV1):c.10323G>T (p.Gly3441=) rs373354231 0.00010
NM_032119.4(ADGRV1):c.12373A>G (p.Ile4125Val) rs766991551 0.00010
NM_032119.4(ADGRV1):c.1411G>C (p.Val471Leu) rs190427962 0.00010
NM_032119.4(ADGRV1):c.17669T>A (p.Met5890Lys) rs142905845 0.00010
NM_080916.3(DGUOK):c.-1G>A rs754623273 0.00010
NM_080916.3(DGUOK):c.60G>A (p.Lys20=) rs961313523 0.00010
NM_133379.5(TTN):c.11169G>A (p.Thr3723=) rs145004106 0.00010
NM_133497.4(KCNV2):c.168G>A (p.Glu56=) rs201975160 0.00010
NM_138694.4(PKHD1):c.1849T>C (p.Tyr617His) rs141177165 0.00010
NM_138694.4(PKHD1):c.6687T>C (p.Ser2229=) rs148497044 0.00010
NM_138694.4(PKHD1):c.6741C>G (p.Cys2247Trp) rs750190287 0.00010
NM_152564.5(VPS13B):c.7087A>C (p.Lys2363Gln) rs533701597 0.00010
NM_178138.6(LHX3):c.198C>G (p.Ala66=) rs190916587 0.00010
NM_182961.4(SYNE1):c.10761C>T (p.Ser3587=) rs201715967 0.00010
NM_182961.4(SYNE1):c.21924G>A (p.Glu7308=) rs371017408 0.00010
NM_182961.4(SYNE1):c.8360C>T (p.Thr2787Met) rs142676206 0.00010
NM_198506.5(LRIT3):c.710G>A (p.Arg237His) rs150750727 0.00010
NM_201384.3(PLEC):c.10791C>T (p.Pro3597=) rs537994918 0.00010
NM_201384.3(PLEC):c.11015G>C (p.Ser3672Thr) rs782767733 0.00010
NM_201384.3(PLEC):c.13607C>T (p.Ser4536Leu) rs781985768 0.00010
NM_201384.3(PLEC):c.13636G>A (p.Val4546Met) rs573424409 0.00010
NM_201384.3(PLEC):c.2458-7G>A rs372799330 0.00010
NM_201384.3(PLEC):c.6464C>T (p.Ala2155Val) rs201922111 0.00010
NM_201384.3(PLEC):c.9406G>A (p.Ala3136Thr) rs200680102 0.00010
NM_206933.4(USH2A):c.7168G>A (p.Gly2390Arg) rs376983577 0.00010
NM_206933.4(USH2A):c.7541A>G (p.Asn2514Ser) rs150060240 0.00010
NM_207361.6(FREM2):c.6333C>T (p.Gly2111=) rs116763572 0.00010
NM_000035.4(ALDOB):c.1014G>A (p.Ala338=) rs546735701 0.00009
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478 0.00009
NM_000051.4(ATM):c.670A>G (p.Lys224Glu) rs145053092 0.00009
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr) rs567060474 0.00009
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_000080.4(CHRNE):c.465C>T (p.Phe155=) rs139625105 0.00009
NM_000093.5(COL5A1):c.804C>T (p.Gly268=) rs147729713 0.00009
NM_000137.4(FAH):c.870C>T (p.Asp290=) rs377480457 0.00009
NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val) rs143677764 0.00009
NM_000138.5(FBN1):c.7902C>T (p.Pro2634=) rs138621371 0.00009
NM_000138.5(FBN1):c.7964C>T (p.Ala2655Val) rs202240409 0.00009
NM_000152.5(GAA):c.1482A>G (p.Thr494=) rs202064115 0.00009
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp) rs1800938 0.00009
NM_000214.3(JAG1):c.1335G>A (p.Gln445=) rs759545669 0.00009
NM_000231.3(SGCG):c.506-7T>G rs774582375 0.00009
NM_000235.4(LIPA):c.483T>C (p.Asn161=) rs369755163 0.00009
NM_000260.4(MYO7A):c.3750+7G>A rs397516305 0.00009
NM_000337.6(SGCD):c.123C>G (p.Leu41=) rs200670993 0.00009
NM_000350.3(ABCA4):c.872C>T (p.Pro291Leu) rs190540405 0.00009
NM_000414.4(HSD17B4):c.1317A>G (p.Val439=) rs771922933 0.00009
NM_000414.4(HSD17B4):c.1625G>A (p.Arg542Lys) rs546653967 0.00009
NM_000426.4(LAMA2):c.2736G>A (p.Ala912=) rs142671449 0.00009
NM_000428.3(LTBP2):c.1686+8C>G rs563097395 0.00009
NM_000452.3(SLC10A2):c.363C>T (p.Gly121=) rs143992162 0.00009
NM_000458.4(HNF1B):c.1578C>G (p.Ser526=) rs751225159 0.00009
NM_000458.4(HNF1B):c.1654-9T>A rs200579660 0.00009
NM_000492.4(CFTR):c.3564G>A (p.Ser1188=) rs146804928 0.00009
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp) rs4148725 0.00009
NM_000515.5(GH1):c.387C>T (p.Tyr129=) rs370785603 0.00009
NM_000541.5(SAG):c.474A>G (p.Thr158=) rs886042737 0.00009
NM_000541.5(SAG):c.843G>A (p.Thr281=) rs374774483 0.00009
NM_000543.5(SMPD1):c.567A>G (p.Lys189=) rs750187574 0.00009
NM_000601.6(HGF):c.270T>C (p.Asp90=) rs145598174 0.00009
NM_000719.7(CACNA1C):c.1341C>T (p.Ile447=) rs377643814 0.00009
NM_000719.7(CACNA1C):c.3969C>T (p.Ile1323=) rs201345843 0.00009
NM_000719.7(CACNA1C):c.6116C>G (p.Ala2039Gly) rs549476254 0.00009
NM_000719.7(CACNA1C):c.927A>G (p.Ala309=) rs369079645 0.00009
NM_000883.4(IMPDH1):c.1551C>T (p.Ser517=) rs148875137 0.00009
NM_001008537.3(NEXMIF):c.2672A>G (p.Asn891Ser) rs186535459 0.00009
NM_001038603.3(MARVELD2):c.808A>C (p.Ile270Leu) rs139234053 0.00009
NM_001061.7(TBXAS1):c.51G>A (p.Thr17=) rs201600575 0.00009
NM_001077365.2(POMT1):c.1149C>T (p.His383=) rs202121299 0.00009
NM_001110556.2(FLNA):c.7362G>A (p.Thr2454=) rs369179210 0.00009
NM_001127222.2(CACNA1A):c.5868C>T (p.Tyr1956=) rs371972266 0.00009
NM_001127222.2(CACNA1A):c.6257G>T (p.Gly2086Val) rs765051582 0.00009
NM_001127649.3(PEX26):c.33C>G (p.Pro11=) rs199668827 0.00009
NM_001128228.3(TPRN):c.1726-7C>T rs377461469 0.00009
NM_001130438.3(SPTAN1):c.3078C>T (p.Pro1026=) rs779993051 0.00009
NM_001130987.2(DYSF):c.1008C>T (p.Asp336=) rs146687581 0.00009
NM_001130987.2(DYSF):c.4037C>T (p.Ala1346Val) rs201476613 0.00009
NM_001130987.2(DYSF):c.4831G>A (p.Ala1611Thr) rs143163327 0.00009
NM_001130987.2(DYSF):c.690C>T (p.Pro230=) rs376293526 0.00009
NM_001184880.2(PCDH19):c.2522G>A (p.Arg841His) rs756818874 0.00009
NM_001184880.2(PCDH19):c.545G>C (p.Gly182Ala) rs727504067 0.00009
NM_001191061.2(SLC25A22):c.579G>A (p.Thr193=) rs141430143 0.00009
NM_001199107.2(TBC1D24):c.1642G>A (p.Val548Met) rs201649140 0.00009
NM_001256789.3(CACNA1F):c.5827G>A (p.Asp1943Asn) rs374663693 0.00009
NM_001267550.2(TTN):c.101378A>T (p.Asp33793Val) rs200675195 0.00009
NM_001267550.2(TTN):c.12957G>A (p.Ala4319=) rs762330685 0.00009
NM_001267550.2(TTN):c.13458C>T (p.Asp4486=) rs748885610 0.00009
NM_001267550.2(TTN):c.13884C>T (p.Ser4628=) rs183328495 0.00009
NM_001267550.2(TTN):c.1398+5G>A rs542965530 0.00009
NM_001267550.2(TTN):c.14049C>T (p.Ser4683=) rs370208081 0.00009
NM_001267550.2(TTN):c.14309A>G (p.Tyr4770Cys) rs371552518 0.00009
NM_001267550.2(TTN):c.1585G>A (p.Ala529Thr) rs143030869 0.00009
NM_001267550.2(TTN):c.16057C>A (p.Arg5353=) rs267599069 0.00009
NM_001267550.2(TTN):c.17806A>G (p.Ile5936Val) rs72648945 0.00009
NM_001267550.2(TTN):c.186C>T (p.Arg62=) rs528853682 0.00009
NM_001267550.2(TTN):c.21475G>A (p.Val7159Ile) rs371267140 0.00009
NM_001267550.2(TTN):c.21642C>T (p.Asn7214=) rs752620885 0.00009
NM_001267550.2(TTN):c.25145G>A (p.Arg8382His) rs199598066 0.00009
NM_001267550.2(TTN):c.25557C>T (p.Gly8519=) rs372320172 0.00009
NM_001267550.2(TTN):c.25569C>T (p.Ala8523=) rs375022009 0.00009
NM_001267550.2(TTN):c.2611G>T (p.Val871Leu) rs72647861 0.00009
NM_001267550.2(TTN):c.30309T>C (p.Phe10103=) rs762141482 0.00009
NM_001267550.2(TTN):c.31441A>G (p.Thr10481Ala) rs370208651 0.00009
NM_001267550.2(TTN):c.31875A>C (p.Thr10625=) rs182934463 0.00009
NM_001267550.2(TTN):c.33305G>A (p.Arg11102His) rs368777046 0.00009
NM_001267550.2(TTN):c.34982T>C (p.Val11661Ala) rs199561793 0.00009
NM_001267550.2(TTN):c.40395A>G (p.Ile13465Met) rs766145596 0.00009
NM_001267550.2(TTN):c.41596G>A (p.Val13866Ile) rs375474669 0.00009
NM_001267550.2(TTN):c.42933T>C (p.Asn14311=) rs148528251 0.00009
NM_001267550.2(TTN):c.44589G>A (p.Thr14863=) rs369800903 0.00009
NM_001267550.2(TTN):c.44734C>T (p.His14912Tyr) rs766391823 0.00009
NM_001267550.2(TTN):c.47242A>C (p.Asn15748His) rs368988689 0.00009
NM_001267550.2(TTN):c.52317A>G (p.Lys17439=) rs370450339 0.00009
NM_001267550.2(TTN):c.53780T>C (p.Leu17927Pro) rs369678018 0.00009
NM_001267550.2(TTN):c.53903G>A (p.Arg17968His) rs200100660 0.00009
NM_001267550.2(TTN):c.54068G>A (p.Arg18023Gln) rs727503603 0.00009
NM_001267550.2(TTN):c.59849G>A (p.Arg19950Gln) rs374914334 0.00009
NM_001267550.2(TTN):c.63907G>A (p.Val21303Met) rs372812312 0.00009
NM_001267550.2(TTN):c.63960T>A (p.Val21320=) rs397517655 0.00009
NM_001267550.2(TTN):c.66601G>A (p.Asp22201Asn) rs368924655 0.00009
NM_001267550.2(TTN):c.72674C>T (p.Pro24225Leu) rs55992239 0.00009
NM_001267550.2(TTN):c.75259G>A (p.Ala25087Thr) rs759110420 0.00009
NM_001267550.2(TTN):c.76610G>A (p.Arg25537His) rs561977468 0.00009
NM_001267550.2(TTN):c.77706C>T (p.Asp25902=) rs375764395 0.00009
NM_001267550.2(TTN):c.78906A>C (p.Glu26302Asp) rs534003014 0.00009
NM_001267550.2(TTN):c.79334G>A (p.Arg26445His) rs764254441 0.00009
NM_001267550.2(TTN):c.81565C>G (p.Leu27189Val) rs142391957 0.00009
NM_001267550.2(TTN):c.84965G>A (p.Arg28322His) rs373532064 0.00009
NM_001267550.2(TTN):c.87280G>A (p.Glu29094Lys) rs199501185 0.00009
NM_001267550.2(TTN):c.89947G>A (p.Val29983Met) rs397517746 0.00009
NM_001267550.2(TTN):c.93255G>A (p.Pro31085=) rs372611171 0.00009
NM_001267550.2(TTN):c.94827C>T (p.Tyr31609=) rs771635198 0.00009
NM_001267550.2(TTN):c.96989T>C (p.Ile32330Thr) rs201023432 0.00009
NM_001267550.2(TTN):c.9955G>A (p.Val3319Ile) rs375533809 0.00009
NM_001271.4(CHD2):c.753A>G (p.Glu251=) rs368486032 0.00009
NM_001276345.2(TNNT2):c.837C>T (p.Asn279=) rs376923877 0.00009
NM_001278116.2(L1CAM):c.1993C>G (p.Leu665Val) rs199592861 0.00009
NM_001291867.2(NHS):c.3408G>A (p.Thr1136=) rs370811549 0.00009
NM_001351132.2(PEX5):c.1245C>T (p.Asn415=) rs138243167 0.00009
NM_001360.3(DHCR7):c.1273G>A (p.Gly425Ser) rs760242 0.00009
NM_001360.3(DHCR7):c.1362G>A (p.Lys454=) rs147850435 0.00009
NM_001360.3(DHCR7):c.1365C>T (p.Tyr455=) rs557097410 0.00009
NM_001367721.1(CASK):c.1315-10A>G rs375004542 0.00009
NM_001369268.1(ACAN):c.2261T>C (p.Leu754Pro) rs577419060 0.00009
NM_001378120.1(MBD5):c.4258T>G (p.Ser1420Ala) rs756608508 0.00009
NM_001378454.1(ALMS1):c.11017C>A (p.Leu3673Ile) rs549757247 0.00009
NM_001378615.1(CC2D2A):c.2117G>A (p.Arg706Gln) rs778205727 0.00009
NM_001378615.1(CC2D2A):c.881-8C>T rs114387988 0.00009
NM_001379081.2(FREM1):c.261C>T (p.Asn87=) rs370943663 0.00009
NM_001384140.1(PCDH15):c.2619A>G (p.Glu873=) rs150784450 0.00009
NM_001384474.1(LOXHD1):c.4068G>A (p.Arg1356=) rs539688337 0.00009
NM_001384474.1(LOXHD1):c.5514G>A (p.Glu1838=) rs749182319 0.00009
NM_001384732.1(CPLANE1):c.608A>G (p.Tyr203Cys) rs144969169 0.00009
NM_001429.4(EP300):c.1572G>A (p.Thr524=) rs746398873 0.00009
NM_001429.4(EP300):c.3591-6C>T rs368437789 0.00009
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val) rs200516164 0.00009
NM_001692.4(ATP6V1B1):c.669C>T (p.Ile223=) rs372233648 0.00009
NM_001701.4(BAAT):c.797T>C (p.Ile266Thr) rs539433580 0.00009
NM_001793.6(CDH3):c.2364C>T (p.Asp788=) rs144637479 0.00009
NM_001845.6(COL4A1):c.2903G>A (p.Arg968Gln) rs146288748 0.00009
NM_001848.3(COL6A1):c.1437C>T (p.Gly479=) rs762625409 0.00009
NM_001848.3(COL6A1):c.2746G>A (p.Val916Ile) rs563043611 0.00009
NM_001849.4(COL6A2):c.1458+9_1458+14del rs762583937 0.00009
NM_001849.4(COL6A2):c.2745G>A (p.Ser915=) rs144516266 0.00009
NM_001849.4(COL6A2):c.2784C>T (p.Ile928=) rs199501232 0.00009
NM_001849.4(COL6A2):c.999+10G>T rs376378709 0.00009
NM_001927.4(DES):c.250G>A (p.Gly84Ser) rs200545412 0.00009
NM_001953.5(TYMP):c.-4A>G rs571316178 0.00009
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=) rs147633551 0.00009
NM_002693.3(POLG):c.1842C>T (p.Tyr614=) rs62640033 0.00009
NM_002693.3(POLG):c.2220C>T (p.Asn740=) rs141538857 0.00009
NM_002834.5(PTPN11):c.1449T>G (p.Gly483=) rs143238917 0.00009
NM_002968.3(SALL1):c.2373C>A (p.Gly791=) rs377295510 0.00009
NM_003392.7(WNT5A):c.819G>A (p.Ala273=) rs200583587 0.00009
NM_003482.4(KMT2D):c.2222C>T (p.Pro741Leu) rs587778453 0.00009
NM_003611.3(OFD1):c.936-2A>G rs199902986 0.00009
NM_003673.4(TCAP):c.132C>T (p.Asp44=) rs397516861 0.00009
NM_003742.4(ABCB11):c.279C>T (p.Tyr93=) rs375137002 0.00009
NM_003816.3(ADAM9):c.540G>A (p.Lys180=) rs186443262 0.00009
NM_004006.3(DMD):c.9479G>A (p.Arg3160His) rs771392678 0.00009
NM_004006.3(DMD):c.9888C>T (p.Pro3296=) rs146543659 0.00009
NM_004369.4(COL6A3):c.4663G>A (p.Asp1555Asn) rs763162762 0.00009
NM_004369.4(COL6A3):c.7702C>T (p.Leu2568=) rs201479636 0.00009
NM_004380.3(CREBBP):c.1369A>G (p.Ile457Val) rs369459749 0.00009
NM_004393.6(DAG1):c.2349T>C (p.Leu783=) rs201280782 0.00009
NM_004415.4(DSP):c.3616T>A (p.Leu1206Ile) rs151115778 0.00009
NM_004447.6(EPS8):c.1822A>C (p.Lys608Gln) rs200844984 0.00009
NM_004656.4(BAP1):c.186C>T (p.Val62=) rs199608453 0.00009
NM_004698.4(PRPF3):c.957T>C (p.Pro319=) rs199721048 0.00009
NM_004813.4(PEX16):c.262G>A (p.Val88Met) rs567165324 0.00009
NM_005148.4(UNC119):c.600C>T (p.Ser200=) rs142549864 0.00009
NM_005379.4(MYO1A):c.2082C>G (p.Arg694=) rs189900453 0.00009
NM_005379.4(MYO1A):c.92G>A (p.Arg31His) rs727504447 0.00009
NM_005477.3(HCN4):c.1815G>A (p.Thr605=) rs367753936 0.00009
NM_005529.7(HSPG2):c.1086G>A (p.Lys362=) rs189837148 0.00009
NM_005529.7(HSPG2):c.2124C>T (p.Ser708=) rs139220302 0.00009
NM_005529.7(HSPG2):c.5628A>G (p.Thr1876=) rs368047383 0.00009
NM_005802.5(TOPORS):c.2344A>G (p.Thr782Ala) rs746320974 0.00009
NM_005902.4(SMAD3):c.885G>A (p.Arg295=) rs139616052 0.00009
NM_006005.3(WFS1):c.173C>T (p.Ala58Val) rs369671890 0.00009
NM_006019.4(TCIRG1):c.2119-10C>T rs377606178 0.00009
NM_006662.3(SRCAP):c.5019G>A (p.Pro1673=) rs202139170 0.00009
NM_006662.3(SRCAP):c.7173G>A (p.Pro2391=) rs150413453 0.00009
NM_006922.4(SCN3A):c.4899T>A (p.Arg1633=) rs748935500 0.00009
NM_007118.4(TRIO):c.8824C>G (p.Gln2942Glu) rs377248579 0.00009
NM_007255.3(B4GALT7):c.489C>T (p.Asp163=) rs372857848 0.00009
NM_014140.4(SMARCAL1):c.2322G>A (p.Ser774=) rs139445683 0.00009
NM_014319.5(LEMD3):c.282C>G (p.Val94=) rs867412512 0.00009
NM_014989.7(RIMS1):c.28C>T (p.Pro10Ser) rs200935038 0.00009
NM_015102.5(NPHP4):c.1764-5C>T rs370899989 0.00009
NM_015166.4(MLC1):c.93C>T (p.Asp31=) rs199625892 0.00009
NM_015311.3(OBSL1):c.993C>A (p.Ala331=) rs771686909 0.00009
NM_015629.4(PRPF31):c.1374+9C>T rs727504108 0.00009
NM_016239.4(MYO15A):c.7533C>T (p.Pro2511=) rs369717113 0.00009
NM_017617.5(NOTCH1):c.1725C>T (p.Cys575=) rs369070550 0.00009
NM_017777.4(MKS1):c.516-10T>C rs375046501 0.00009
NM_018006.5(TRMU):c.351T>C (p.Asn117=) rs117710834 0.00009
NM_018136.5(ASPM):c.2994G>A (p.Pro998=) rs554545885 0.00009
NM_019066.5(MAGEL2):c.474A>G (p.Pro158=) rs750481560 0.00009
NM_020779.4(WDR35):c.2109T>G (p.Thr703=) rs201822027 0.00009
NM_020822.3(KCNT1):c.2008+10G>C rs752453368 0.00009
NM_020822.3(KCNT1):c.2052G>A (p.Thr684=) rs376314779 0.00009
NM_020975.6(RET):c.2611G>A (p.Val871Ile) rs145170911 0.00009
NM_022042.4(SLC26A1):c.747G>A (p.Trp249Ter) rs536555705 0.00009
NM_022124.6(CDH23):c.1450-4G>A rs374549358 0.00009
NM_022124.6(CDH23):c.2394C>T (p.Thr798=) rs373269394 0.00009
NM_022124.6(CDH23):c.5228C>A (p.Thr1743Asn) rs191021194 0.00009
NM_022437.3(ABCG8):c.694+5G>C rs557890655 0.00009
NM_022437.3(ABCG8):c.870C>T (p.Thr290=) rs117221284 0.00009
NM_023110.3(FGFR1):c.1978-8del rs112311314 0.00009
NM_024408.4(NOTCH2):c.6477G>A (p.Thr2159=) rs145566650 0.00009
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu) rs62625271 0.00009
NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys) rs373269573 0.00009
NM_025243.4(SLC19A3):c.325G>A (p.Val109Ile) rs780569649 0.00009
NM_030662.4(MAP2K2):c.919+4C>T rs763424788 0.00009
NM_032119.4(ADGRV1):c.14373T>A (p.Ala4791=) rs375062187 0.00009
NM_032119.4(ADGRV1):c.8295G>T (p.Leu2765Phe) rs141681122 0.00009
NM_130837.3(OPA1):c.790-4T>A rs374509936 0.00009
NM_130839.5(UBE3A):c.1338T>C (p.Phe446=) rs371154816 0.00009
NM_133379.5(TTN):c.13746A>G (p.Gln4582=) rs201945197 0.00009
NM_133379.5(TTN):c.13799A>C (p.Glu4600Ala) rs200760091 0.00009
NM_133433.4(NIPBL):c.5511A>G (p.Arg1837=) rs146702130 0.00009
NM_133642.5(LARGE1):c.909T>G (p.Leu303=) rs563144239 0.00009
NM_138694.4(PKHD1):c.282-3C>T rs535210707 0.00009
NM_138694.4(PKHD1):c.5193G>A (p.Val1731=) rs146531432 0.00009
NM_138694.4(PKHD1):c.8364C>T (p.Thr2788=) rs777017196 0.00009
NM_138694.4(PKHD1):c.9345A>G (p.Glu3115=) rs760710708 0.00009
NM_139343.3(BIN1):c.942C>T (p.His314=) rs370911793 0.00009
NM_144508.5(KNL1):c.606C>T (p.Ser202=) rs776234628 0.00009
NM_147127.5(EVC2):c.765C>T (p.Asn255=) rs139129327 0.00009
NM_152564.5(VPS13B):c.7780-19C>T rs199981958 0.00009
NM_153676.4(USH1C):c.2124T>C (p.Ser708=) rs369021714 0.00009
NM_182914.3(SYNE2):c.19323C>T (p.Ser6441=) rs186839881 0.00009
NM_182961.4(SYNE1):c.21705G>A (p.Lys7235=) rs148606479 0.00009
NM_182961.4(SYNE1):c.2427G>A (p.Glu809=) rs749509412 0.00009
NM_182961.4(SYNE1):c.2893-5G>A rs370196519 0.00009
NM_194248.3(OTOF):c.4820G>A (p.Arg1607Gln) rs141800430 0.00009
NM_198525.3(KIF7):c.72A>C (p.Pro24=) rs773325406 0.00009
NM_201384.3(PLEC):c.10157C>T (p.Ala3386Val) rs532234200 0.00009
NM_201384.3(PLEC):c.10728C>T (p.Gly3576=) rs372840016 0.00009
NM_201384.3(PLEC):c.113-6C>T rs782235036 0.00009
NM_201384.3(PLEC):c.12783C>T (p.Ala4261=) rs377524932 0.00009
NM_201384.3(PLEC):c.6657C>T (p.Ala2219=) rs762600030 0.00009
NM_201384.3(PLEC):c.792C>T (p.Arg264=) rs782391508 0.00009
NM_206933.4(USH2A):c.10826G>T (p.Ser3609Ile) rs727504307 0.00009
NM_206933.4(USH2A):c.15306C>T (p.Ala5102=) rs149506333 0.00009
NM_213599.3(ANO5):c.1332+8A>G rs368857740 0.00009
NM_000092.5(COL4A4):c.1460-6G>A rs771213140 0.00008
NM_000124.4(ERCC6):c.4143C>T (p.Ser1381=) rs375921453 0.00008
NM_000142.5(FGFR3):c.335G>A (p.Arg112Gln) rs758163128 0.00008
NM_000152.5(GAA):c.711G>A (p.Ala237=) rs368328598 0.00008
NM_000168.6(GLI3):c.1182A>G (p.Pro394=) rs748606221 0.00008
NM_000208.4(INSR):c.2256C>G (p.Ala752=) rs376497490 0.00008
NM_000214.3(JAG1):c.1628G>A (p.Arg543His) rs544877858 0.00008
NM_000260.4(MYO7A):c.2088C>T (p.Tyr696=) rs781964494 0.00008
NM_000271.5(NPC1):c.3528G>A (p.Thr1176=) rs150602021 0.00008
NM_000310.4(PPT1):c.*6G>A rs113082671 0.00008
NM_000346.4(SOX9):c.685+7C>T rs370951695 0.00008
NM_000352.6(ABCC8):c.279C>A (p.Ile93=) rs550990673 0.00008
NM_000368.5(TSC1):c.1276G>T (p.Asp426Tyr) rs765695557 0.00008
NM_000377.3(WAS):c.264C>T (p.Tyr88=) rs150520117 0.00008
NM_000377.3(WAS):c.285G>A (p.Leu95=) rs781799471 0.00008
NM_000383.4(AIRE):c.564C>G (p.Val188=) rs201650973 0.00008
NM_000388.4(CASR):c.114T>C (p.Phe38=) rs61733590 0.00008
NM_000443.4(ABCB4):c.3477G>A (p.Thr1159=) rs368458295 0.00008
NM_000489.6(ATRX):c.831C>T (p.Val277=) rs142561199 0.00008
NM_000501.4(ELN):c.1358-198G>A rs192461213 0.00008
NM_000535.7(PMS2):c.2127C>T (p.Phe709=) rs199943748 0.00008
NM_000540.3(RYR1):c.10648C>T (p.Arg3550Trp) rs536304635 0.00008
NM_000719.7(CACNA1C):c.5529T>C (p.His1843=) rs371831239 0.00008
NM_000744.7(CHRNA4):c.729G>A (p.Pro243=) rs121912253 0.00008
NM_000843.4(GRM6):c.588C>T (p.Pro196=) rs756171835 0.00008
NM_001005242.3(PKP2):c.918C>T (p.Pro306=) rs368656084 0.00008
NM_001035.3(RYR2):c.3721G>A (p.Val1241Ile) rs185715460 0.00008
NM_001040142.2(SCN2A):c.3579C>A (p.Leu1193=) rs367546924 0.00008
NM_001048166.1(STIL):c.2259C>G (p.Ser753=) rs774035449 0.00008
NM_001127644.2(GABRA1):c.612C>T (p.Arg204=) rs374616425 0.00008
NM_001127671.2(LIFR):c.2937G>A (p.Ser979=) rs201711670 0.00008
NM_001128840.3(CACNA1D):c.3115-3C>T rs779910083 0.00008
NM_001130823.3(DNMT1):c.2937C>T (p.Pro979=) rs150359172 0.00008
NM_001130987.2(DYSF):c.2159C>T (p.Thr720Met) rs775539496 0.00008
NM_001130987.2(DYSF):c.5625C>T (p.Ser1875=) rs577921112 0.00008
NM_001134363.3(RBM20):c.849C>T (p.Tyr283=) rs187423999 0.00008
NM_001134407.3(GRIN2A):c.4330G>A (p.Val1444Ile) rs150574045 0.00008
NM_001134407.3(GRIN2A):c.4353A>T (p.Arg1451Ser) rs143693526 0.00008
NM_001146079.2(CLDN14):c.321C>T (p.Cys107=) rs764548516 0.00008
NM_001193315.2(VIPAS39):c.1254T>C (p.Asn418=) rs188105111 0.00008
NM_001199107.2(TBC1D24):c.1425C>T (p.Pro475=) rs370869383 0.00008
NM_001206979.2(NR1H4):c.1245T>C (p.Leu415=) rs368975126 0.00008
NM_001242957.3(MAK):c.492-4A>G rs540144059 0.00008
NM_001267550.2(TTN):c.105416C>T (p.Thr35139Ile) rs200782068 0.00008
NM_001267550.2(TTN):c.105757G>A (p.Val35253Met) rs373655492 0.00008
NM_001267550.2(TTN):c.107384T>C (p.Val35795Ala) rs549598246 0.00008
NM_001267550.2(TTN):c.12181G>A (p.Ala4061Thr) rs397517829 0.00008
NM_001267550.2(TTN):c.13340C>T (p.Ser4447Leu) rs777547090 0.00008
NM_001267550.2(TTN):c.13520T>C (p.Met4507Thr) rs191968963 0.00008
NM_001267550.2(TTN):c.17184A>G (p.Glu5728=) rs200984007 0.00008
NM_001267550.2(TTN):c.1815T>C (p.Thr605=) rs757604614 0.00008
NM_001267550.2(TTN):c.20465A>G (p.Asn6822Ser) rs371518764 0.00008
NM_001267550.2(TTN):c.21276C>T (p.Thr7092=) rs372264428 0.00008
NM_001267550.2(TTN):c.23616C>T (p.Asn7872=) rs181206334 0.00008
NM_001267550.2(TTN):c.2760C>T (p.His920=) rs138788406 0.00008
NM_001267550.2(TTN):c.29317G>A (p.Ala9773Thr) rs371163094 0.00008
NM_001267550.2(TTN):c.30619C>G (p.Pro10207Ala) rs781304514 0.00008
NM_001267550.2(TTN):c.3813T>C (p.Leu1271=) rs773274762 0.00008
NM_001267550.2(TTN):c.39709+9G>C rs765647346 0.00008
NM_001267550.2(TTN):c.41019G>A (p.Pro13673=) rs762470432 0.00008
NM_001267550.2(TTN):c.47860G>A (p.Ala15954Thr) rs377037421 0.00008
NM_001267550.2(TTN):c.48462G>A (p.Thr16154=) rs202141158 0.00008
NM_001267550.2(TTN):c.54053A>T (p.Lys18018Met) rs368425364 0.00008
NM_001267550.2(TTN):c.55396G>A (p.Gly18466Arg) rs772677752 0.00008
NM_001267550.2(TTN):c.66086G>A (p.Arg22029His) rs72646868 0.00008
NM_001267550.2(TTN):c.8184C>T (p.Val2728=) rs753356474 0.00008
NM_001267550.2(TTN):c.83733C>T (p.Ser27911=) rs375442124 0.00008
NM_001267550.2(TTN):c.92806G>A (p.Val30936Ile) rs200476500 0.00008
NM_001267550.2(TTN):c.96172C>T (p.Arg32058Trp) rs201463708 0.00008
NM_001267550.2(TTN):c.99582G>A (p.Pro33194=) rs777730098 0.00008
NM_001287.6(CLCN7):c.1155C>T (p.Gly385=) rs771365308 0.00008
NM_001292063.2(OTOG):c.450A>G (p.Thr150=) rs779238030 0.00008
NM_001330078.2(NRXN1):c.498G>A (p.Ala166=) rs201212909 0.00008
NM_001360.3(DHCR7):c.1155C>T (p.Ala385=) rs777517985 0.00008
NM_001360.3(DHCR7):c.840C>T (p.Tyr280=) rs148468879 0.00008
NM_001360016.2(G6PD):c.1051+16G>A rs782637386 0.00008
NM_001367721.1(CASK):c.1718C>T (p.Thr573Ile) rs141840001 0.00008
NM_001374385.1(ATP8B1):c.2100C>T (p.Leu700=) rs747771646 0.00008
NM_001374385.1(ATP8B1):c.903G>A (p.Arg301=) rs762363452 0.00008
NM_001376256.1(CRYM):c.474G>A (p.Gln158=) rs371633413 0.00008
NM_001458.5(FLNC):c.2040C>T (p.Thr680=) rs368121231 0.00008
NM_001458.5(FLNC):c.4488T>C (p.Asn1496=) rs377258966 0.00008
NM_001793.6(CDH3):c.2475C>T (p.Gly825=) rs543214840 0.00008
NM_001844.5(COL2A1):c.2307C>T (p.Asp769=) rs145023922 0.00008
NM_001848.3(COL6A1):c.2464+9C>T rs368651226 0.00008
NM_001849.4(COL6A2):c.2301C>T (p.His767=) rs138371054 0.00008
NM_001927.4(DES):c.193G>A (p.Gly65Ser) rs397516692 0.00008
NM_001927.4(DES):c.642C>T (p.Asp214=) rs370239228 0.00008
NM_002047.4(GARS1):c.1716G>A (p.Pro572=) rs370608239 0.00008
NM_002427.4(MMP13):c.443T>A (p.Val148Glu) rs374419716 0.00008
NM_002546.4(TNFRSF11B):c.69G>A (p.Thr23=) rs146450643 0.00008
NM_002693.3(POLG):c.1977C>T (p.His659=) rs62640030 0.00008
NM_002693.3(POLG):c.408C>G (p.Asp136Glu) rs115109291 0.00008
NM_002834.5(PTPN11):c.1740T>C (p.Tyr580=) rs139188627 0.00008
NM_003865.3(HESX1):c.541A>G (p.Thr181Ala) rs28936704 0.00008
NM_004006.3(DMD):c.530+7A>T rs72470523 0.00008
NM_004006.3(DMD):c.733A>G (p.Ile245Val) rs140510985 0.00008
NM_004006.3(DMD):c.8829G>A (p.Thr2943=) rs150766816 0.00008
NM_004369.4(COL6A3):c.4849G>A (p.Ala1617Thr) rs200433282 0.00008
NM_004369.4(COL6A3):c.6157-4T>G rs536696110 0.00008
NM_004519.4(KCNQ3):c.1226C>G (p.Pro409Arg) rs149272208 0.00008
NM_004519.4(KCNQ3):c.1935A>G (p.Gln645=) rs587781011 0.00008
NM_004560.4(ROR2):c.1565G>A (p.Arg522Gln) rs201986784 0.00008
NM_004565.3(PEX14):c.170-4C>A rs764907398 0.00008
NM_004817.4(TJP2):c.1953G>T (p.Gly651=) rs750134026 0.00008
NM_004820.5(CYP7B1):c.645T>C (p.Asp215=) rs535511484 0.00008
NM_005045.4(RELN):c.2637C>T (p.Val879=) rs544717229 0.00008
NM_005476.7(GNE):c.1242T>C (p.Leu414=) rs371881711 0.00008
NM_005476.7(GNE):c.165-9C>T rs760509369 0.00008
NM_005529.7(HSPG2):c.4413C>T (p.Pro1471=) rs376929779 0.00008
NM_006017.3(PROM1):c.321A>C (p.Ala107=) rs371975235 0.00008
NM_006019.4(TCIRG1):c.826C>T (p.Arg276Trp) rs543099977 0.00008
NM_006031.6(PCNT):c.6876C>T (p.Ala2292=) rs761995771 0.00008
NM_006486.3(FBLN1):c.1012G>A (p.Val338Met) rs766511464 0.00008
NM_006516.4(SLC2A1):c.987G>A (p.Glu329=) rs201989024 0.00008
NM_006922.4(SCN3A):c.474-4C>T rs371709966 0.00008
NM_007126.5(VCP):c.1194+3G>A rs183223259 0.00008
NM_014780.5(CUL7):c.4482C>T (p.Ser1494=) rs760462179 0.00008
NM_014795.4(ZEB2):c.3219C>T (p.His1073=) rs139944383 0.00008
NM_015102.5(NPHP4):c.2807C>T (p.Thr936Met) rs201074950 0.00008
NM_015102.5(NPHP4):c.2952G>A (p.Thr984=) rs375493384 0.00008
NM_015311.3(OBSL1):c.342C>T (p.Ala114=) rs760053992 0.00008
NM_015311.3(OBSL1):c.397G>C (p.Gly133Arg) rs556207267 0.00008
NM_016203.4(PRKAG2):c.1304A>G (p.Asn435Ser) rs200589374 0.00008
NM_016356.5(DCDC2):c.68G>T (p.Arg23Leu) rs745333409 0.00008
NM_017780.4(CHD7):c.2194C>G (p.Pro732Ala) rs200277422 0.00008
NM_022437.3(ABCG8):c.1650G>A (p.Ala550=) rs145754381 0.00008
NM_022455.5(NSD1):c.7597C>G (p.Leu2533Val) rs398124386 0.00008
NM_024757.5(EHMT1):c.2595C>T (p.Asp865=) rs780742937 0.00008
NM_024757.5(EHMT1):c.3848A>C (p.Glu1283Ala) rs398124408 0.00008
NM_025074.7(FRAS1):c.1503C>T (p.Asp501=) rs370655417 0.00008
NM_025193.4(HSD3B7):c.558G>A (p.Thr186=) rs760192112 0.00008
NM_032119.4(ADGRV1):c.17342A>G (p.Gln5781Arg) rs369717492 0.00008
NM_033056.4(PCDH15):c.4719G>A (p.Leu1573=) rs529962978 0.00008
NM_033380.3(COL4A5):c.89A>G (p.Tyr30Cys) rs150305490 0.00008
NM_058246.4(DNAJB6):c.342C>A (p.Phe114Leu) rs373354100 0.00008
NM_058246.4(DNAJB6):c.974A>C (p.Asn325Thr) rs375911119 0.00008
NM_133379.5(TTN):c.11809A>C (p.Lys3937Gln) rs562658562 0.00008
NM_133433.4(NIPBL):c.6312A>G (p.Lys2104=) rs147865925 0.00008
NM_138691.3(TMC1):c.1622T>C (p.Ile541Thr) rs201955337 0.00008
NM_138694.4(PKHD1):c.11007G>A (p.Ser3669=) rs142855690 0.00008
NM_138694.4(PKHD1):c.11836T>C (p.Leu3946=) rs35403035 0.00008
NM_138694.4(PKHD1):c.1833A>C (p.Thr611=) rs142922408 0.00008
NM_138694.4(PKHD1):c.4866C>A (p.Leu1622=) rs571966529 0.00008
NM_138694.4(PKHD1):c.5520C>T (p.Cys1840=) rs535128714 0.00008
NM_138694.4(PKHD1):c.708-5C>T rs371844893 0.00008
NM_138694.4(PKHD1):c.880+5C>T rs759601015 0.00008
NM_144596.4(TTC8):c.267C>A (p.Arg89=) rs200113889 0.00008
NM_170699.3(GPBAR1):c.-1G>A rs200558126 0.00008
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079 0.00008
NM_173477.5(USH1G):c.491G>C (p.Arg164Pro) rs144633924 0.00008
NM_173630.4(RTTN):c.4564+8C>T rs563328673 0.00008
NM_182961.4(SYNE1):c.19554C>T (p.Pro6518=) rs780644969 0.00008
NM_182961.4(SYNE1):c.7308C>T (p.Thr2436=) rs144910464 0.00008
NM_182961.4(SYNE1):c.8403C>T (p.Tyr2801=) rs757104773 0.00008
NM_201384.3(PLEC):c.1506G>C (p.Gln502His) rs571497788 0.00008
NM_201384.3(PLEC):c.1650C>T (p.Ser550=) rs541271992 0.00008
NM_201384.3(PLEC):c.2829G>A (p.Ala943=) rs369370495 0.00008
NM_201384.3(PLEC):c.4410G>A (p.Gly1470=) rs782222671 0.00008
NM_201384.3(PLEC):c.4855G>A (p.Glu1619Lys) rs782026068 0.00008
NM_201384.3(PLEC):c.5469C>T (p.Asp1823=) rs771101893 0.00008
NM_201384.3(PLEC):c.5879G>A (p.Arg1960His) rs367679924 0.00008
NM_201384.3(PLEC):c.9749C>T (p.Thr3250Met) rs201349099 0.00008
NM_206933.4(USH2A):c.9401G>A (p.Arg3134Gln) rs780020144 0.00008
NM_000017.4(ACADS):c.147C>G (p.Ala49=) rs202193021 0.00007
NM_000035.4(ALDOB):c.1000-3T>C rs369238799 0.00007
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=) rs41293473 0.00007
NM_000059.4(BRCA2):c.1167G>A (p.Pro389=) rs148607710 0.00007
NM_000059.4(BRCA2):c.3173A>G (p.Lys1058Arg) rs431825302 0.00007
NM_000117.3(EMD):c.12C>T (p.Tyr4=) rs782011714 0.00007
NM_000117.3(EMD):c.400-9C>T rs782061626 0.00007
NM_000141.5(FGFR2):c.2124C>T (p.Pro708=) rs140813163 0.00007
NM_000142.5(FGFR3):c.1830C>G (p.Ser610=) rs758618182 0.00007
NM_000152.5(GAA):c.1194+3G>C rs368539333 0.00007
NM_000152.5(GAA):c.2157G>A (p.Ala719=) rs201523530 0.00007
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile) rs730881787 0.00007
NM_000257.4(MYH7):c.114C>T (p.Phe38=) rs146210693 0.00007
NM_000260.4(MYO7A):c.5480+10G>A rs768513428 0.00007
NM_000271.5(NPC1):c.2911+10C>T rs370382673 0.00007
NM_000283.4(PDE6B):c.1258-10T>A rs727504074 0.00007
NM_000297.4(PKD2):c.1549-4T>C rs374450718 0.00007
NM_000337.6(SGCD):c.69C>T (p.Tyr23=) rs397517923 0.00007
NM_000362.5(TIMP3):c.321C>T (p.Arg107=) rs145553035 0.00007
NM_000392.5(ABCC2):c.3379G>A (p.Val1127Ile) rs370049107 0.00007
NM_000392.5(ABCC2):c.3498C>T (p.Thr1166=) rs564908429 0.00007
NM_000414.4(HSD17B4):c.1327A>T (p.Met443Leu) rs201767875 0.00007
NM_000426.4(LAMA2):c.6345C>T (p.Pro2115=) rs200364660 0.00007
NM_000435.3(NOTCH3):c.1469G>C (p.Gly490Ala) rs374248747 0.00007
NM_000441.2(SLC26A4):c.2283A>G (p.Thr761=) rs202033028 0.00007
NM_000443.4(ABCB4):c.3285C>T (p.Leu1095=) rs561612231 0.00007
NM_000443.4(ABCB4):c.524C>T (p.Thr175Met) rs746166913 0.00007
NM_000452.3(SLC10A2):c.870G>A (p.Pro290=) rs370310605 0.00007
NM_000455.5(STK11):c.357C>T (p.Asn119=) rs372511774 0.00007
NM_000458.4(HNF1B):c.420C>T (p.Val140=) rs370134885 0.00007
NM_000489.6(ATRX):c.1868A>G (p.Lys623Arg) rs145678415 0.00007
NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly) rs782553301 0.00007
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240 0.00007
NM_000540.3(RYR1):c.10032C>T (p.Pro3344=) rs376687300 0.00007
NM_000540.3(RYR1):c.4113G>C (p.Arg1371Ser) rs551509462 0.00007
NM_000540.3(RYR1):c.5637C>T (p.Asp1879=) rs143418190 0.00007
NM_000541.5(SAG):c.357G>A (p.Thr119=) rs757487948 0.00007
NM_000548.5(TSC2):c.4136C>T (p.Ser1379Leu) rs137854065 0.00007
NM_000601.6(HGF):c.1814C>T (p.Thr605Ile) rs147075806 0.00007
NM_000601.6(HGF):c.1832G>C (p.Ser611Thr) rs141774517 0.00007
NM_000642.3(AGL):c.2607A>G (p.Gln869=) rs747817359 0.00007
NM_000744.7(CHRNA4):c.1494C>T (p.Ala498=) rs137860047 0.00007
NM_000780.4(CYP7A1):c.1215+8C>T rs368417648 0.00007
NM_001040142.2(SCN2A):c.5574A>G (p.Leu1858=) rs767592553 0.00007
NM_001077365.2(POMT1):c.1486+9G>A rs547775333 0.00007
NM_001077365.2(POMT1):c.1746C>T (p.Ser582=) rs376373313 0.00007
NM_001079866.2(BCS1L):c.201C>T (p.Leu67=) rs142540289 0.00007
NM_001083961.2(WDR62):c.4122C>T (p.Gly1374=) rs773948810 0.00007
NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln) rs773739293 0.00007
NM_001103.4(ACTN2):c.2659G>A (p.Ala887Thr) rs148972050 0.00007
NM_001110556.2(FLNA):c.901C>T (p.Arg301Trp) rs192609440 0.00007
NM_001111125.3(IQSEC2):c.1711G>A (p.Gly571Ser) rs797044752 0.00007
NM_001126121.2(SLC25A19):c.135T>A (p.Leu45=) rs373190423 0.00007
NM_001130823.3(DNMT1):c.327C>T (p.Asn109=) rs144685297 0.00007
NM_001130987.2(DYSF):c.1281C>T (p.Asp427=) rs147244033 0.00007
NM_001142864.4(PIEZO1):c.7381G>A (p.Glu2461Lys) rs371391349 0.00007
NM_001164508.2(NEB):c.23763G>C (p.Leu7921Phe) rs201028196 0.00007
NM_001193315.2(VIPAS39):c.78C>T (p.Asp26=) rs112217896 0.00007
NM_001195263.2(PDZD7):c.1638T>C (p.Asn546=) rs760557332 0.00007
NM_001206979.2(NR1H4):c.658G>T (p.Ala220Ser) rs180957965 0.00007
NM_001267550.2(TTN):c.102540T>C (p.Ser34180=) rs368844570 0.00007
NM_001267550.2(TTN):c.104298T>C (p.Ala34766=) rs751788327 0.00007
NM_001267550.2(TTN):c.104640G>A (p.Glu34880=) rs373134178 0.00007
NM_001267550.2(TTN):c.104943A>G (p.Glu34981=) rs372312805 0.00007
NM_001267550.2(TTN):c.107105C>T (p.Pro35702Leu) rs772957495 0.00007
NM_001267550.2(TTN):c.13376T>C (p.Ile4459Thr) rs763065439 0.00007
NM_001267550.2(TTN):c.14302G>A (p.Gly4768Ser) rs727503652 0.00007
NM_001267550.2(TTN):c.16581C>T (p.Val5527=) rs373179717 0.00007
NM_001267550.2(TTN):c.27193T>C (p.Cys9065Arg) rs201229221 0.00007
NM_001267550.2(TTN):c.27847G>A (p.Val9283Met) rs727504515 0.00007
NM_001267550.2(TTN):c.31071C>T (p.His10357=) rs368973334 0.00007
NM_001267550.2(TTN):c.31505C>T (p.Ser10502Leu) rs768632287 0.00007
NM_001267550.2(TTN):c.39885G>A (p.Pro13295=) rs756518824 0.00007
NM_001267550.2(TTN):c.40502G>A (p.Arg13501His) rs571348685 0.00007
NM_001267550.2(TTN):c.52890C>T (p.Thr17630=) rs374228930 0.00007
NM_001267550.2(TTN):c.53142T>C (p.Asp17714=) rs373316165 0.00007
NM_001267550.2(TTN):c.53807G>A (p.Arg17936His) rs727503604 0.00007
NM_001267550.2(TTN):c.54855G>A (p.Thr18285=) rs200410212 0.00007
NM_001267550.2(TTN):c.56019T>C (p.Thr18673=) rs183047238 0.00007
NM_001267550.2(TTN):c.56533A>C (p.Thr18845Pro) rs375000725 0.00007
NM_001267550.2(TTN):c.60932G>A (p.Arg20311Gln) rs373062007 0.00007
NM_001267550.2(TTN):c.69660A>G (p.Ala23220=) rs371996901 0.00007
NM_001267550.2(TTN):c.70163G>A (p.Arg23388Gln) rs55853138 0.00007
NM_001267550.2(TTN):c.70833G>A (p.Ala23611=) rs377220635 0.00007
NM_001267550.2(TTN):c.72331G>C (p.Ala24111Pro) rs369671334 0.00007
NM_001267550.2(TTN):c.72824A>T (p.Lys24275Ile) rs199860952 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_001267550.2(TTN):c.80859G>A (p.Thr26953=) rs771257647 0.00007
NM_001267550.2(TTN):c.86024C>T (p.Pro28675Leu) rs766419568 0.00007
NM_001267550.2(TTN):c.96883G>A (p.Val32295Met) rs199532781 0.00007
NM_001267550.2(TTN):c.98243G>A (p.Arg32748His) rs397517775 0.00007
NM_001292063.2(OTOG):c.6405C>T (p.Thr2135=) rs187255209 0.00007
NM_001330078.2(NRXN1):c.1688T>C (p.Ile563Thr) rs201837579 0.00007
NM_001330078.2(NRXN1):c.2037G>A (p.Pro679=) rs199714221 0.00007
NM_001360.3(DHCR7):c.855C>T (p.Phe285=) rs781026169 0.00007
NM_001367624.2(ZNF469):c.4829G>A (p.Arg1610His) rs567038987 0.00007
NM_001374385.1(ATP8B1):c.2904C>T (p.Tyr968=) rs376358532 0.00007
NM_001378609.3(OTOGL):c.5702T>C (p.Ile1901Thr) rs775475186 0.00007
NM_001378615.1(CC2D2A):c.3652C>A (p.Arg1218=) rs375278294 0.00007
NM_001378615.1(CC2D2A):c.4512A>G (p.Leu1504=) rs762143074 0.00007
NM_001844.5(COL2A1):c.4095T>C (p.Asn1365=) rs367625071 0.00007
NM_001848.3(COL6A1):c.357G>A (p.Ala119=) rs747037863 0.00007
NM_001849.4(COL6A2):c.2904C>T (p.Asn968=) rs143569686 0.00007
NM_001849.4(COL6A2):c.3018G>A (p.Ala1006=) rs61735832 0.00007
NM_001849.4(COL6A2):c.981C>T (p.Asn327=) rs768836349 0.00007
NM_001852.4(COL9A2):c.919G>A (p.Gly307Ser) rs184896618 0.00007
NM_001943.5(DSG2):c.3244C>G (p.Pro1082Ala) rs191300661 0.00007
NM_002335.4(LRP5):c.996C>T (p.Asn332=) rs956302502 0.00007
NM_002397.5(MEF2C):c.1207A>G (p.Thr403Ala) rs753002290 0.00007
NM_002618.4(PEX13):c.408T>A (p.Ile136=) rs145776973 0.00007
NM_002693.3(POLG):c.1545C>T (p.Ile515=) rs537156830 0.00007
NM_002693.3(POLG):c.1898A>C (p.Lys633Thr) rs568913937 0.00007
NM_002834.5(PTPN11):c.132C>T (p.Ser44=) rs397507502 0.00007
NM_002906.4(RDX):c.777A>G (p.Pro259=) rs142773831 0.00007
NM_002968.3(SALL1):c.3270C>T (p.Asn1090=) rs143637930 0.00007
NM_003073.5(SMARCB1):c.585C>T (p.Ile195=) rs757546528 0.00007
NM_003482.4(KMT2D):c.2646G>A (p.Leu882=) rs376227770 0.00007
NM_003482.4(KMT2D):c.7829T>C (p.Leu2610Pro) rs200998047 0.00007
NM_003630.3(PEX3):c.473C>G (p.Pro158Arg) rs199781957 0.00007
NM_003742.4(ABCB11):c.1055G>A (p.Gly352Glu) rs201351924 0.00007
NM_003816.3(ADAM9):c.1074T>C (p.Asp358=) rs202060547 0.00007
NM_004006.3(DMD):c.10846A>G (p.Thr3616Ala) rs368996545 0.00007
NM_004006.3(DMD):c.2988A>G (p.Leu996=) rs148835707 0.00007
NM_004006.3(DMD):c.3450G>A (p.Glu1150=) rs142967431 0.00007
NM_004006.3(DMD):c.5548A>G (p.Lys1850Glu) rs141261536 0.00007
NM_004006.3(DMD):c.863G>C (p.Arg288Thr) rs767304770 0.00007
NM_004006.3(DMD):c.9093C>T (p.Val3031=) rs72466563 0.00007
NM_004006.3(DMD):c.9325G>T (p.Ala3109Ser) rs201718067 0.00007
NM_004172.5(SLC1A3):c.1496G>A (p.Arg499Gln) rs138085358 0.00007
NM_004281.4(BAG3):c.892G>A (p.Val298Met) rs150048651 0.00007
NM_004369.4(COL6A3):c.1977C>T (p.Arg659=) rs141280228 0.00007
NM_004369.4(COL6A3):c.7590G>A (p.Val2530=) rs115591088 0.00007
NM_004380.3(CREBBP):c.3982+10G>A rs370093745 0.00007
NM_004393.6(DAG1):c.183T>C (p.Val61=) rs775928044 0.00007
NM_004560.4(ROR2):c.1448G>A (p.Arg483Gln) rs767474960 0.00007
NM_004565.3(PEX14):c.1013A>G (p.Asp338Gly) rs201120958 0.00007
NM_004817.4(TJP2):c.212C>T (p.Pro71Leu) rs142847960 0.00007
NM_004817.4(TJP2):c.2775G>A (p.Thr925=) rs374453976 0.00007
NM_005529.7(HSPG2):c.2558+10A>G rs756733330 0.00007
NM_005529.7(HSPG2):c.5934G>A (p.Arg1978=) rs557762861 0.00007
NM_005529.7(HSPG2):c.769C>T (p.Arg257Trp) rs535956121 0.00007
NM_006005.3(WFS1):c.726C>T (p.Ile242=) rs71524381 0.00007
NM_006019.4(TCIRG1):c.1195C>T (p.Leu399=) rs151180675 0.00007
NM_006019.4(TCIRG1):c.1278A>G (p.Arg426=) rs138527421 0.00007
NM_006031.6(PCNT):c.3885T>C (p.Phe1295=) rs755298136 0.00007
NM_006261.5(PROP1):c.423C>T (p.Ala141=) rs200977367 0.00007
NM_006516.4(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735 0.00007
NM_006516.4(SLC2A1):c.258C>T (p.Phe86=) rs147319894 0.00007
NM_006662.3(SRCAP):c.2892G>A (p.Leu964=) rs556745550 0.00007
NM_012210.4(TRIM32):c.238C>T (p.Leu80=) rs760820148 0.00007
NM_014244.5(ADAMTS2):c.260G>T (p.Arg87Leu) rs150047440 0.00007
NM_015046.7(SETX):c.1880T>C (p.Met627Thr) rs199707503 0.00007
NM_015102.5(NPHP4):c.2902G>A (p.Ala968Thr) rs375090704 0.00007
NM_015102.5(NPHP4):c.3012G>A (p.Thr1004=) rs185162256 0.00007
NM_015702.3(MMADHC):c.600C>T (p.Leu200=) rs754142876 0.00007
NM_015884.4(MBTPS2):c.706A>G (p.Ile236Val) rs369520528 0.00007
NM_017534.6(MYH2):c.3384C>T (p.Ile1128=) rs139130605 0.00007
NM_017617.5(NOTCH1):c.3468C>T (p.Asn1156=) rs199793164 0.00007
NM_017739.4(POMGNT1):c.1831C>T (p.Leu611=) rs367848204 0.00007
NM_017777.4(MKS1):c.468C>T (p.Val156=) rs199684837 0.00007
NM_017780.4(CHD7):c.331C>T (p.Pro111Ser) rs147164392 0.00007
NM_018136.5(ASPM):c.6550C>T (p.Arg2184Trp) rs138727741 0.00007
NM_018451.5(CPAP):c.3663G>A (p.Pro1221=) rs200291056 0.00007
NM_018941.4(CLN8):c.522C>T (p.Cys174=) rs148417620 0.00007
NM_018965.4(TREM2):c.407G>A (p.Arg136Gln) rs149622783 0.00007
NM_020745.4(AARS2):c.761G>C (p.Gly254Ala) rs199919912 0.00007
NM_021830.5(TWNK):c.1827C>A (p.Arg609=) rs146601680 0.00007
NM_022124.6(CDH23):c.5131G>A (p.Val1711Ile) rs181611778 0.00007
NM_022436.3(ABCG5):c.1500A>G (p.Gly500=) rs767584159 0.00007
NM_022437.3(ABCG8):c.1200G>A (p.Thr400=) rs369131115 0.00007
NM_022437.3(ABCG8):c.351G>A (p.Val117=) rs41281459 0.00007
NM_022437.3(ABCG8):c.450C>T (p.His150=) rs200013237 0.00007
NM_024408.4(NOTCH2):c.4312G>A (p.Val1438Ile) rs745861610 0.00007
NM_025074.7(FRAS1):c.39G>A (p.Ala13=) rs773457837 0.00007
NM_025193.4(HSD3B7):c.*1C>T rs781013516 0.00007
NM_025193.4(HSD3B7):c.1047G>C (p.Ser349=) rs746926891 0.00007
NM_030662.4(MAP2K2):c.648C>T (p.Ser216=) rs147276536 0.00007
NM_030665.4(RAI1):c.1499C>T (p.Pro500Leu) rs775231187 0.00007
NM_032119.4(ADGRV1):c.10342G>A (p.Val3448Met) rs199715642 0.00007
NM_032119.4(ADGRV1):c.12463C>T (p.Pro4155Ser) rs576429729 0.00007
NM_032119.4(ADGRV1):c.1374T>A (p.Phe458Leu) rs373868639 0.00007
NM_032119.4(ADGRV1):c.2991T>C (p.Ile997=) rs570773279 0.00007
NM_032119.4(ADGRV1):c.6684T>A (p.Ser2228=) rs373667458 0.00007
NM_033337.3(CAV3):c.244G>A (p.Val82Ile) rs112626848 0.00007
NM_053025.4(MYLK):c.2120A>G (p.Gln707Arg) rs201615936 0.00007
NM_058246.4(DNAJB6):c.564C>T (p.Phe188=) rs145897776 0.00007
NM_080605.4(B3GALT6):c.753G>A (p.Pro251=) rs370328225 0.00007
NM_080680.3(COL11A2):c.3616C>T (p.Leu1206=) rs147576338 0.00007
NM_145200.5(CABP4):c.579G>A (p.Leu193=) rs139392451 0.00007
NM_170707.4(LMNA):c.1530C>T (p.Thr510=) rs138098342 0.00007
NM_181303.2(NLGN3):c.282G>A (p.Ser94=) rs143817848 0.00007
NM_182914.3(SYNE2):c.14486G>A (p.Cys4829Tyr) rs200997641 0.00007
NM_182961.4(SYNE1):c.15175C>T (p.Leu5059=) rs763930147 0.00007
NM_182961.4(SYNE1):c.17347-6C>T rs201692248 0.00007
NM_182961.4(SYNE1):c.20200-3T>C rs770710698 0.00007
NM_182961.4(SYNE1):c.22038A>G (p.Ser7346=) rs201392317 0.00007
NM_182961.4(SYNE1):c.24348G>A (p.Ala8116=) rs371204427 0.00007
NM_182961.4(SYNE1):c.25786A>G (p.Met8596Val) rs746864807 0.00007
NM_182961.4(SYNE1):c.4377C>T (p.Ser1459=) rs146567226 0.00007
NM_194248.3(OTOF):c.843C>T (p.Asp281=) rs368728682 0.00007
NM_201384.3(PLEC):c.12255C>T (p.Asp4085=) rs782193445 0.00007
NM_201384.3(PLEC):c.1668C>T (p.Gly556=) rs369796183 0.00007
NM_201384.3(PLEC):c.2178+10G>A rs781817693 0.00007
NM_201384.3(PLEC):c.3186G>A (p.Thr1062=) rs782437578 0.00007
NM_201384.3(PLEC):c.4326G>A (p.Ala1442=) rs369943756 0.00007
NM_201384.3(PLEC):c.6222C>T (p.Ser2074=) rs370347438 0.00007
NM_201384.3(PLEC):c.8481C>T (p.Asp2827=) rs377660488 0.00007
NM_201384.3(PLEC):c.8617G>A (p.Glu2873Lys) rs377748878 0.00007
NM_201384.3(PLEC):c.933C>T (p.Phe311=) rs369363676 0.00007
NM_201384.3(PLEC):c.9896G>A (p.Arg3299Gln) rs368318946 0.00007
NM_206933.4(USH2A):c.3861A>G (p.Lys1287=) rs750789180 0.00007
NM_207346.3(TSEN54):c.468+8C>T rs117456384 0.00007
NM_207391.3(RGS9BP):c.96C>G (p.Asp32Glu) rs201148742 0.00007
NM_000023.4(SGCA):c.62C>T (p.Thr21Ile) rs199804735 0.00006
NM_000051.4(ATM):c.5352C>T (p.Asn1784=) rs140641762 0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg) rs147915571 0.00006
NM_000088.4(COL1A1):c.2508C>T (p.Gly836=) rs200620805 0.00006
NM_000093.5(COL5A1):c.805G>A (p.Glu269Lys) rs761079177 0.00006
NM_000102.4(CYP17A1):c.1524C>T (p.Thr508=) rs145067399 0.00006
NM_000117.3(EMD):c.454C>T (p.Arg152Cys) rs376456050 0.00006
NM_000138.5(FBN1):c.3464-6C>T rs375596551 0.00006
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu) rs144995231 0.00006
NM_000152.5(GAA):c.1143C>T (p.Thr381=) rs111832449 0.00006
NM_000152.5(GAA):c.1356C>T (p.Ala452=) rs757893858 0.00006
NM_000152.5(GAA):c.318C>T (p.Arg106=) rs762542246 0.00006
NM_000152.5(GAA):c.510C>T (p.Asp170=) rs564758226 0.00006
NM_000156.6(GAMT):c.670G>A (p.Ala224Thr) rs141471799 0.00006
NM_000208.4(INSR):c.3042C>T (p.Asp1014=) rs369686949 0.00006
NM_000214.3(JAG1):c.2298T>C (p.Phe766=) rs771544217 0.00006
NM_000214.3(JAG1):c.2877G>A (p.Ala959=) rs142085300 0.00006
NM_000235.4(LIPA):c.618C>A (p.Val206=) rs763651849 0.00006
NM_000249.4(MLH1):c.453G>A (p.Thr151=) rs369521379 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_000271.5(NPC1):c.1542G>A (p.Leu514=) rs371076898 0.00006
NM_000295.5(SERPINA1):c.1134G>A (p.Glu378=) rs148362959 0.00006
NM_000334.4(SCN4A):c.5367G>A (p.Ser1789=) rs189230866 0.00006
NM_000335.5(SCN5A):c.1734C>T (p.Pro578=) rs200868190 0.00006
NM_000335.5(SCN5A):c.2497G>A (p.Gly833Arg) rs45475899 0.00006
NM_000350.3(ABCA4):c.1267C>T (p.His423Tyr) rs138044729 0.00006
NM_000352.6(ABCC8):c.3976G>A (p.Glu1326Lys) rs200563930 0.00006
NM_000352.6(ABCC8):c.824G>A (p.Arg275Gln) rs185040406 0.00006
NM_000360.4(TH):c.645C>T (p.His215=) rs768037080 0.00006
NM_000392.5(ABCC2):c.3576C>G (p.Thr1192=) rs146575217 0.00006
NM_000392.5(ABCC2):c.3987+10G>A rs373365135 0.00006
NM_000392.5(ABCC2):c.99G>A (p.Val33=) rs376241522 0.00006
NM_000414.4(HSD17B4):c.1280C>T (p.Ala427Val) rs28943590 0.00006
NM_000441.2(SLC26A4):c.1233C>T (p.Ala411=) rs766572560 0.00006
NM_000452.3(SLC10A2):c.261G>A (p.Ser87=) rs200682819 0.00006
NM_000458.4(HNF1B):c.313G>A (p.Glu105Lys) rs199572129 0.00006
NM_000458.4(HNF1B):c.36C>T (p.Leu12=) rs749370057 0.00006
NM_000463.3(UGT1A1):c.1231G>T (p.Val411Leu) rs36076514 0.00006
NM_000466.3(PEX1):c.2842C>T (p.Arg948Trp) rs374167385 0.00006
NM_000489.6(ATRX):c.1033G>A (p.Ala345Thr) rs149249195 0.00006
NM_000492.4(CFTR):c.3964-16T>C rs199672530 0.00006
NM_000492.4(CFTR):c.4296C>T (p.Asn1432=) rs761669740 0.00006
NM_000492.4(CFTR):c.663G>A (p.Ala221=) rs758147990 0.00006
NM_000540.3(RYR1):c.13350G>A (p.Gly4450=) rs748743312 0.00006
NM_000540.3(RYR1):c.152C>A (p.Thr51Asn) rs193922749 0.00006
NM_000540.3(RYR1):c.2996G>A (p.Arg999His) rs180714609 0.00006
NM_000540.3(RYR1):c.4038C>A (p.Asn1346Lys) rs777049924 0.00006
NM_000541.5(SAG):c.468C>T (p.Phe156=) rs375593027 0.00006
NM_000543.5(SMPD1):c.373C>T (p.Leu125=) rs370048730 0.00006
NM_000548.5(TSC2):c.1340C>T (p.Ala447Val) rs45486591 0.00006
NM_000548.5(TSC2):c.4795G>A (p.Val1599Met) rs772687631 0.00006
NM_000709.4(BCKDHA):c.978C>T (p.Ile326=) rs398123514 0.00006
NM_000744.7(CHRNA4):c.1454G>A (p.Arg485Gln) rs755416498 0.00006
NM_000784.4(CYP27A1):c.420C>T (p.His140=) rs139415581 0.00006
NM_000823.4(GHRHR):c.138G>A (p.Glu46=) rs375206873 0.00006
NM_000823.4(GHRHR):c.885G>T (p.Val295=) rs146944568 0.00006
NM_000875.5(IGF1R):c.1692C>T (p.Pro564=) rs9282723 0.00006
NM_001025295.3(IFITM5):c.-10G>A rs770089325 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_001077446.4(TSEN34):c.-8G>A rs573039542 0.00006
NM_001083962.2(TCF4):c.1245T>C (p.His415=) rs148909575 0.00006
NM_001110556.2(FLNA):c.2023-8C>T rs587780335 0.00006
NM_001110556.2(FLNA):c.5448G>A (p.Ala1816=) rs782806731 0.00006
NM_001110792.2(MECP2):c.1198C>T (p.Pro400Ser) rs61753000 0.00006
NM_001110792.2(MECP2):c.737C>G (p.Ala246Gly) rs138211345 0.00006
NM_001110792.2(MECP2):c.90C>G (p.Leu30=) rs372500343 0.00006
NM_001111125.3(IQSEC2):c.684C>T (p.Ser228=) rs781940286 0.00006
NM_001127222.2(CACNA1A):c.2676C>T (p.Ser892=) rs780515850 0.00006
NM_001127222.2(CACNA1A):c.6001C>T (p.Pro2001Ser) rs751947412 0.00006
NM_001128178.3(NPHP1):c.1950G>A (p.Leu650=) rs144850331 0.00006
NM_001128840.3(CACNA1D):c.5439C>T (p.Ser1813=) rs761519681 0.00006
NM_001130987.2(DYSF):c.378G>A (p.Pro126=) rs377056951 0.00006
NM_001144967.3(NEDD4L):c.965A>G (p.Asn322Ser) rs749019037 0.00006
NM_001164508.2(NEB):c.10233T>C (p.Ala3411=) rs727504033 0.00006
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr) rs201079458 0.00006
NM_001165963.4(SCN1A):c.3732G>A (p.Gln1244=) rs369688121 0.00006
NM_001170629.2(CHD8):c.6473G>A (p.Arg2158His) rs745375504 0.00006
NM_001173990.3(TMEM216):c.123A>T (p.Ile41=) rs900061092 0.00006
NM_001256317.3(TMPRSS3):c.915C>T (p.Ile305=) rs774844255 0.00006
NM_001267550.2(TTN):c.102398T>C (p.Ile34133Thr) rs764179161 0.00006
NM_001267550.2(TTN):c.103636C>T (p.Arg34546Cys) rs777626473 0.00006
NM_001267550.2(TTN):c.103909C>T (p.Arg34637Trp) rs200716930 0.00006
NM_001267550.2(TTN):c.105090C>T (p.Asp35030=) rs72629789 0.00006
NM_001267550.2(TTN):c.106044C>A (p.Asn35348Lys) rs145560044 0.00006
NM_001267550.2(TTN):c.15185G>A (p.Ser5062Asn) rs371687650 0.00006
NM_001267550.2(TTN):c.17686G>A (p.Glu5896Lys) rs561557554 0.00006
NM_001267550.2(TTN):c.18561G>A (p.Ala6187=) rs377556808 0.00006
NM_001267550.2(TTN):c.19190C>T (p.Thr6397Met) rs199564845 0.00006
NM_001267550.2(TTN):c.21521C>T (p.Ala7174Val) rs764832849 0.00006
NM_001267550.2(TTN):c.2573C>T (p.Ser858Leu) rs772294126 0.00006
NM_001267550.2(TTN):c.25853G>A (p.Gly8618Glu) rs369947439 0.00006
NM_001267550.2(TTN):c.25942A>G (p.Lys8648Glu) rs188234466 0.00006
NM_001267550.2(TTN):c.26056G>A (p.Gly8686Ser) rs370578197 0.00006
NM_001267550.2(TTN):c.27652G>T (p.Val9218Phe) rs746558975 0.00006
NM_001267550.2(TTN):c.42415+7G>A rs772004291 0.00006
NM_001267550.2(TTN):c.4247G>A (p.Arg1416His) rs750278602 0.00006
NM_001267550.2(TTN):c.42509T>C (p.Met14170Thr) rs369623392 0.00006
NM_001267550.2(TTN):c.43986T>G (p.Asp14662Glu) rs201390600 0.00006
NM_001267550.2(TTN):c.44492G>A (p.Gly14831Glu) rs751929345 0.00006
NM_001267550.2(TTN):c.45212T>C (p.Ile15071Thr) rs184078045 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.5073A>T (p.Glu1691Asp) rs770902874 0.00006
NM_001267550.2(TTN):c.52139A>T (p.Asp17380Val) rs373305248 0.00006
NM_001267550.2(TTN):c.53295T>C (p.Pro17765=) rs771792080 0.00006
NM_001267550.2(TTN):c.55139T>C (p.Ile18380Thr) rs72646819 0.00006
NM_001267550.2(TTN):c.55784C>G (p.Thr18595Arg) rs770499179 0.00006
NM_001267550.2(TTN):c.55809G>A (p.Pro18603=) rs750472100 0.00006
NM_001267550.2(TTN):c.56943G>A (p.Ala18981=) rs370998052 0.00006
NM_001267550.2(TTN):c.5740G>A (p.Ala1914Thr) rs118161093 0.00006
NM_001267550.2(TTN):c.57586C>G (p.Leu19196Val) rs397517630 0.00006
NM_001267550.2(TTN):c.58017G>C (p.Leu19339Phe) rs368025965 0.00006
NM_001267550.2(TTN):c.60654G>A (p.Thr20218=) rs776141268 0.00006
NM_001267550.2(TTN):c.61592G>A (p.Arg20531His) rs370887455 0.00006
NM_001267550.2(TTN):c.61696G>A (p.Val20566Ile) rs764777213 0.00006
NM_001267550.2(TTN):c.62844T>G (p.Pro20948=) rs770335539 0.00006
NM_001267550.2(TTN):c.64175G>A (p.Arg21392His) rs777176324 0.00006
NM_001267550.2(TTN):c.64673-5T>C rs530496528 0.00006
NM_001267550.2(TTN):c.6713C>T (p.Thr2238Met) rs201284459 0.00006
NM_001267550.2(TTN):c.68208T>A (p.Val22736=) rs727503575 0.00006
NM_001267550.2(TTN):c.70172T>C (p.Ile23391Thr) rs375202101 0.00006
NM_001267550.2(TTN):c.71149G>T (p.Asp23717Tyr) rs371818894 0.00006
NM_001267550.2(TTN):c.72992G>A (p.Arg24331His) rs755174224 0.00006
NM_001267550.2(TTN):c.73847G>A (p.Arg24616Gln) rs201694149 0.00006
NM_001267550.2(TTN):c.75099C>T (p.Asp25033=) rs370272814 0.00006
NM_001267550.2(TTN):c.76566_76568dup (p.Arg25523dup) rs772268958 0.00006
NM_001267550.2(TTN):c.85115G>A (p.Gly28372Glu) rs190721759 0.00006
NM_001267550.2(TTN):c.87758G>A (p.Ser29253Asn) rs757300589 0.00006
NM_001267550.2(TTN):c.96225T>A (p.Val32075=) rs752745266 0.00006
NM_001267550.2(TTN):c.9639C>T (p.Ser3213=) rs760666570 0.00006
NM_001267550.2(TTN):c.96637G>A (p.Asp32213Asn) rs764561909 0.00006
NM_001267550.2(TTN):c.9674A>G (p.Asn3225Ser) rs202011992 0.00006
NM_001267550.2(TTN):c.97331G>C (p.Arg32444Pro) rs184922462 0.00006
NM_001267550.2(TTN):c.99922G>A (p.Ala33308Thr) rs201226974 0.00006
NM_001278116.2(L1CAM):c.1107C>T (p.Asn369=) rs200768501 0.00006
NM_001330260.2(SCN8A):c.3135C>T (p.Ile1045=) rs550579591 0.00006
NM_001330260.2(SCN8A):c.5879G>A (p.Arg1960Gln) rs369346315 0.00006
NM_001353921.2(ARHGEF9):c.351G>A (p.Glu117=) rs373866956 0.00006
NM_001360.3(DHCR7):c.1011C>T (p.Ala337=) rs369382960 0.00006
NM_001360.3(DHCR7):c.288C>T (p.Ala96=) rs745595242 0.00006
NM_001360.3(DHCR7):c.957G>A (p.Thr319=) rs200157761 0.00006
NM_001365536.1(SCN9A):c.642A>G (p.Arg214=) rs376908183 0.00006
NM_001374353.1(GLI2):c.2089G>A (p.Ala697Thr) rs553780090 0.00006
NM_001374385.1(ATP8B1):c.297A>T (p.Thr99=) rs575921074 0.00006
NM_001378615.1(CC2D2A):c.1689C>T (p.His563=) rs755367503 0.00006
NM_001384140.1(PCDH15):c.3936A>G (p.Ala1312=) rs398124433 0.00006
NM_001384474.1(LOXHD1):c.3936C>G (p.Leu1312=) rs533251927 0.00006
NM_001429.4(EP300):c.5957C>T (p.Pro1986Leu) rs144626200 0.00006
NM_001457.4(FLNB):c.1946G>A (p.Arg649Gln) rs145910735 0.00006
NM_001458.5(FLNC):c.1505A>T (p.Lys502Met) rs780486915 0.00006
NM_001701.4(BAAT):c.762G>A (p.Thr254=) rs760488689 0.00006
NM_001844.5(COL2A1):c.3435+18C>T rs375024988 0.00006
NM_001844.5(COL2A1):c.4136G>A (p.Arg1379His) rs754487319 0.00006
NM_001848.3(COL6A1):c.2355C>A (p.Gly785=) rs149910296 0.00006
NM_001849.4(COL6A2):c.188C>T (p.Thr63Met) rs201094892 0.00006
NM_001849.4(COL6A2):c.2634G>A (p.Ala878=) rs143749884 0.00006
NM_001849.4(COL6A2):c.2707G>A (p.Glu903Lys) rs373611722 0.00006
NM_001851.6(COL9A1):c.635T>C (p.Ile212Thr) rs141776183 0.00006
NM_001909.5(CTSD):c.111G>A (p.Ser37=) rs535140505 0.00006
NM_001909.5(CTSD):c.267C>G (p.Pro89=) rs139154882 0.00006
NM_001931.5(DLAT):c.165C>G (p.Val55=) rs199520186 0.00006
NM_001966.4(EHHADH):c.298G>A (p.Gly100Arg) rs768718791 0.00006
NM_001999.4(FBN2):c.3045C>T (p.Pro1015=) rs371640952 0.00006
NM_002335.4(LRP5):c.4272C>T (p.His1424=) rs145226802 0.00006
NM_002397.5(MEF2C):c.759A>G (p.Pro253=) rs368575766 0.00006
NM_002473.6(MYH9):c.2907C>T (p.Thr969=) rs767461889 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_002755.4(MAP2K1):c.277G>A (p.Val93Ile) rs151207265 0.00006
NM_002863.5(PYGL):c.1758G>A (p.Thr586=) rs755485474 0.00006
NM_002968.3(SALL1):c.1715C>T (p.Thr572Met) rs373471563 0.00006
NM_002979.5(SCP2):c.855A>G (p.Ala285=) rs185811440 0.00006
NM_003238.6(TGFB2):c.644-4C>T rs11466408 0.00006
NM_003482.4(KMT2D):c.15273G>A (p.Lys5091=) rs398123727 0.00006
NM_003482.4(KMT2D):c.4986C>T (p.Cys1662=) rs143063879 0.00006
NM_003482.4(KMT2D):c.6345C>T (p.Ser2115=) rs368856357 0.00006
NM_003742.4(ABCB11):c.1465C>G (p.Leu489Val) rs944713270 0.00006
NM_003742.4(ABCB11):c.2125G>A (p.Glu709Lys) rs201800225 0.00006
NM_003742.4(ABCB11):c.2616C>T (p.Ala872=) rs528640585 0.00006
NM_003742.4(ABCB11):c.3412-7T>C rs757040670 0.00006
NM_003742.4(ABCB11):c.667C>T (p.Arg223Cys) rs199841445 0.00006
NM_003839.4(TNFRSF11A):c.1296G>A (p.Pro432=) rs547088539 0.00006
NM_003839.4(TNFRSF11A):c.1416C>T (p.Cys472=) rs771249524 0.00006
NM_003839.4(TNFRSF11A):c.423C>T (p.His141=) rs763226980 0.00006
NM_004006.3(DMD):c.1704+3G>A rs773123973 0.00006
NM_004006.3(DMD):c.3047G>A (p.Arg1016Gln) rs139772014 0.00006
NM_004006.3(DMD):c.3445A>G (p.Lys1149Glu) rs144667422 0.00006
NM_004006.3(DMD):c.4721G>A (p.Arg1574His) rs755206033 0.00006
NM_004006.3(DMD):c.4862T>C (p.Ile1621Thr) rs377412251 0.00006
NM_004006.3(DMD):c.5599C>G (p.Gln1867Glu) rs144718274 0.00006
NM_004006.3(DMD):c.7051T>C (p.Leu2351=) rs367747168 0.00006
NM_004369.4(COL6A3):c.2754C>T (p.Tyr918=) rs114492689 0.00006
NM_004369.4(COL6A3):c.3732C>T (p.Ala1244=) rs193265138 0.00006
NM_004369.4(COL6A3):c.4662C>T (p.Asp1554=) rs764225803 0.00006
NM_004369.4(COL6A3):c.4677C>T (p.Phe1559=) rs147215386 0.00006
NM_004369.4(COL6A3):c.6930+4C>T rs375657891 0.00006
NM_004369.4(COL6A3):c.7755T>C (p.His2585=) rs145581705 0.00006
NM_004380.3(CREBBP):c.2415G>A (p.Ala805=) rs368664039 0.00006
NM_004380.3(CREBBP):c.5361C>T (p.Asn1787=) rs375462934 0.00006
NM_004393.6(DAG1):c.1773C>T (p.Phe591=) rs2229010 0.00006
NM_004393.6(DAG1):c.735G>A (p.Pro245=) rs748164001 0.00006
NM_004393.6(DAG1):c.927C>T (p.Arg309=) rs551679833 0.00006
NM_004560.4(ROR2):c.1756G>A (p.Ala586Thr) rs142386294 0.00006
NM_004560.4(ROR2):c.2628G>A (p.Thr876=) rs369201767 0.00006
NM_004817.4(TJP2):c.2334C>T (p.Thr778=) rs183285809 0.00006
NM_004817.4(TJP2):c.2880+17C>T rs778212657 0.00006
NM_004820.5(CYP7B1):c.1476G>A (p.Gln492=) rs372800597 0.00006
NM_005476.7(GNE):c.1281+6A>T rs201025841 0.00006
NM_005529.7(HSPG2):c.12195G>A (p.Pro4065=) rs573932867 0.00006
NM_005529.7(HSPG2):c.4928C>A (p.Pro1643His) rs775389963 0.00006
NM_005529.7(HSPG2):c.9291C>T (p.Tyr3097=) rs534949106 0.00006
NM_005633.4(SOS1):c.3769A>G (p.Thr1257Ala) rs553805862 0.00006
NM_006015.6(ARID1A):c.1715C>T (p.Thr572Met) rs778345898 0.00006
NM_006031.6(PCNT):c.1943C>G (p.Pro648Arg) rs752992538 0.00006
NM_006031.6(PCNT):c.405C>T (p.Val135=) rs371917839 0.00006
NM_006031.6(PCNT):c.930C>T (p.His310=) rs778056605 0.00006
NM_006208.3(ENPP1):c.2088C>T (p.Thr696=) rs142835743 0.00006
NM_006432.5(NPC2):c.270T>C (p.Pro90=) rs758503440 0.00006
NM_006662.3(SRCAP):c.4355C>T (p.Ser1452Leu) rs200175704 0.00006
NM_006922.4(SCN3A):c.5394A>G (p.Glu1798=) rs746501220 0.00006
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe) rs41286294 0.00006
NM_012254.3(SLC27A5):c.1668A>G (p.Arg556=) rs370902216 0.00006
NM_012470.4(TNPO3):c.2599-6A>G rs374776250 0.00006
NM_013444.4(UBQLN2):c.1420C>G (p.Pro474Ala) rs761503297 0.00006
NM_014140.4(SMARCAL1):c.927C>T (p.Ser309=) rs139949668 0.00006
NM_014141.6(CNTNAP2):c.3111C>T (p.Pro1037=) rs368108883 0.00006
NM_014141.6(CNTNAP2):c.341G>A (p.Arg114Gln) rs189731792 0.00006
NM_014251.3(SLC25A13):c.790G>A (p.Val264Ile) rs531991442 0.00006
NM_014324.6(AMACR):c.429G>A (p.Pro143=) rs368427062 0.00006
NM_014324.6(AMACR):c.90T>G (p.Arg30=) rs769780647 0.00006
NM_014780.5(CUL7):c.1005G>A (p.Leu335=) rs201310376 0.00006
NM_014780.5(CUL7):c.3747G>A (p.Leu1249=) rs141211365 0.00006
NM_014780.5(CUL7):c.4713C>T (p.Ile1571=) rs368539088 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_015102.5(NPHP4):c.2238C>T (p.Thr746=) rs756449736 0.00006
NM_015102.5(NPHP4):c.3960C>T (p.Leu1320=) rs778306754 0.00006
NM_015192.4(PLCB1):c.1188G>A (p.Ala396=) rs202109404 0.00006
NM_015295.3(SMCHD1):c.4461A>G (p.Gln1487=) rs763699437 0.00006
NM_015634.4(KIFBP):c.1314T>G (p.Thr438=) rs776013730 0.00006
NM_016239.4(MYO15A):c.6357G>A (p.Ala2119=) rs374951514 0.00006
NM_016239.4(MYO15A):c.6729G>A (p.Thr2243=) rs531965733 0.00006
NM_016729.3(FOLR1):c.215A>G (p.Gln72Arg) rs148345688 0.00006
NM_017780.4(CHD7):c.4534-20C>T rs727503866 0.00006
NM_017780.4(CHD7):c.911T>C (p.Ile304Thr) rs537091457 0.00006
NM_018100.4(EFHC1):c.1852-6C>G rs372507832 0.00006
NM_018136.5(ASPM):c.4443A>G (p.Leu1481=) rs374040448 0.00006
NM_020184.4(CNNM4):c.1587G>A (p.Lys529=) rs569907931 0.00006
NM_020451.3(SELENON):c.465G>A (p.Thr155=) rs753774853 0.00006
NM_020822.3(KCNT1):c.2217G>A (p.Ser739=) rs143678590 0.00006
NM_020822.3(KCNT1):c.3153G>A (p.Ser1051=) rs141802876 0.00006
NM_020822.3(KCNT1):c.3281C>T (p.Thr1094Met) rs373041291 0.00006
NM_022124.6(CDH23):c.3852G>A (p.Ser1284=) rs372172457 0.00006
NM_022124.6(CDH23):c.870C>T (p.Ser290=) rs375292899 0.00006
NM_022356.4(P3H1):c.756C>T (p.Tyr252=) rs770943260 0.00006
NM_022489.4(INF2):c.1864C>G (p.Arg622Gly) rs539256832 0.00006
NM_024301.5(FKRP):c.1140G>A (p.Gly380=) rs552260353 0.00006
NM_024408.4(NOTCH2):c.3702T>C (p.His1234=) rs376503331 0.00006
NM_024408.4(NOTCH2):c.7413G>A (p.Ala2471=) rs771638958 0.00006
NM_024408.4(NOTCH2):c.956A>G (p.Asn319Ser) rs144936899 0.00006
NM_024596.5(MCPH1):c.445G>A (p.Val149Ile) rs201403389 0.00006
NM_024649.5(BBS1):c.858C>T (p.Ile286=) rs746775716 0.00006
NM_024757.5(EHMT1):c.188C>T (p.Ala63Val) rs138292762 0.00006
NM_030662.4(MAP2K2):c.890G>A (p.Arg297Gln) rs140111079 0.00006
NM_030665.4(RAI1):c.1488G>A (p.Pro496=) rs727504116 0.00006
NM_030665.4(RAI1):c.3689C>A (p.Ala1230Glu) rs374187267 0.00006
NM_030665.4(RAI1):c.4711G>A (p.Ala1571Thr) rs779651867 0.00006
NM_030777.4(SLC2A10):c.1464C>T (p.Leu488=) rs142639587 0.00006
NM_032119.4(ADGRV1):c.15987C>T (p.Tyr5329=) rs142097643 0.00006
NM_032119.4(ADGRV1):c.17920G>T (p.Ala5974Ser) rs397517427 0.00006
NM_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser) rs200058876 0.00006
NM_080680.3(COL11A2):c.3092C>T (p.Pro1031Leu) rs528009333 0.00006
NM_080916.3(DGUOK):c.758A>G (p.Asn253Ser) rs200169027 0.00006
NM_138694.4(PKHD1):c.2091G>A (p.Thr697=) rs147826962 0.00006
NM_138694.4(PKHD1):c.3628+9C>A rs552339299 0.00006
NM_139058.3(ARX):c.1269C>T (p.His423=) rs794727656 0.00006
NM_144672.4(OTOA):c.1488+8G>A rs375767505 0.00006
NM_152564.5(VPS13B):c.9645C>T (p.Leu3215=) rs373968888 0.00006
NM_153240.5(NPHP3):c.255G>A (p.Glu85=) rs146839563 0.00006
NM_170707.4(LMNA):c.1051A>C (p.Arg351=) rs771623461 0.00006
NM_170707.4(LMNA):c.1149G>A (p.Glu383=) rs267607603 0.00006
NM_170707.4(LMNA):c.1243G>A (p.Val415Ile) rs267607606 0.00006
NM_172107.4(KCNQ2):c.774C>T (p.Asn258=) rs770187706 0.00006
NM_181332.3(NLGN4X):c.48G>A (p.Pro16=) rs398124365 0.00006
NM_182914.3(SYNE2):c.15689A>G (p.Lys5230Arg) rs146573874 0.00006
NM_182914.3(SYNE2):c.19501C>T (p.Pro6501Ser) rs200937358 0.00006
NM_182961.4(SYNE1):c.10149A>G (p.Gln3383=) rs369227827 0.00006
NM_182961.4(SYNE1):c.12798T>A (p.Ser4266=) rs373438870 0.00006
NM_182961.4(SYNE1):c.14727G>A (p.Gly4909=) rs767294195 0.00006
NM_182961.4(SYNE1):c.18213G>A (p.Lys6071=) rs942245024 0.00006
NM_182961.4(SYNE1):c.2991G>A (p.Leu997=) rs1014746277 0.00006
NM_182961.4(SYNE1):c.3879G>A (p.Gln1293=) rs754584363 0.00006
NM_194248.3(OTOF):c.2253G>A (p.Thr751=) rs201888333 0.00006
NM_194248.3(OTOF):c.2359C>T (p.Arg787Cys) rs574277214 0.00006
NM_201384.3(PLEC):c.10178C>T (p.Ala3393Val) rs370079447 0.00006
NM_201384.3(PLEC):c.10413G>A (p.Thr3471=) rs782728053 0.00006
NM_201384.3(PLEC):c.10925A>G (p.Tyr3642Cys) rs782531580 0.00006
NM_201384.3(PLEC):c.1122C>T (p.His374=) rs372270485 0.00006
NM_201384.3(PLEC):c.11721G>A (p.Thr3907=) rs371520192 0.00006
NM_201384.3(PLEC):c.11844G>A (p.Ser3948=) rs782025071 0.00006
NM_201384.3(PLEC):c.13401C>T (p.Ala4467=) rs782114678 0.00006
NM_201384.3(PLEC):c.3009C>T (p.Thr1003=) rs376276993 0.00006
NM_201384.3(PLEC):c.3369G>A (p.Pro1123=) rs371882486 0.00006
NM_201384.3(PLEC):c.4134G>A (p.Ala1378=) rs558224639 0.00006
NM_201384.3(PLEC):c.4293G>A (p.Ala1431=) rs782198489 0.00006
NM_201384.3(PLEC):c.4839G>A (p.Arg1613=) rs554561043 0.00006
NM_201384.3(PLEC):c.5331G>C (p.Glu1777Asp) rs774270631 0.00006
NM_201384.3(PLEC):c.7485C>T (p.Phe2495=) rs542567139 0.00006
NM_201384.3(PLEC):c.8799C>T (p.Phe2933=) rs371751910 0.00006
NM_201525.4(ADGRG1):c.27G>A (p.Thr9=) rs142223451 0.00006
NM_000038.6(APC):c.2250A>T (p.Pro750=) rs376526724 0.00005
NM_000051.4(ATM):c.4665C>T (p.Leu1555=) rs374431061 0.00005
NM_000070.3(CAPN3):c.1263G>A (p.Leu421=) rs372450879 0.00005
NM_000070.3(CAPN3):c.2109C>T (p.Leu703=) rs371577901 0.00005
NM_000089.4(COL1A2):c.3047C>A (p.Pro1016His) rs377278762 0.00005
NM_000092.5(COL4A4):c.2589C>T (p.Pro863=) rs772517977 0.00005
NM_000092.5(COL4A4):c.4578C>T (p.Asn1526=) rs202109186 0.00005
NM_000117.3(EMD):c.355C>A (p.Gln119Lys) rs398123157 0.00005
NM_000117.3(EMD):c.525C>T (p.Ser175=) rs782367505 0.00005
NM_000138.5(FBN1):c.4746A>G (p.Thr1582=) rs794727601 0.00005
NM_000138.5(FBN1):c.6852T>C (p.Pro2284=) rs201226058 0.00005
NM_000152.5(GAA):c.1075+9T>C rs751918816 0.00005
NM_000152.5(GAA):c.1425G>A (p.Pro475=) rs753140491 0.00005
NM_000152.5(GAA):c.1725C>T (p.Tyr575=) rs112517802 0.00005
NM_000152.5(GAA):c.2418G>A (p.Thr806=) rs371528938 0.00005
NM_000152.5(GAA):c.249C>T (p.Asp83=) rs377351519 0.00005
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala) rs564434147 0.00005
NM_000195.5(HPS1):c.1585A>G (p.Ile529Val) rs569192835 0.00005
NM_000214.3(JAG1):c.204C>T (p.Arg68=) rs565407240 0.00005
NM_000214.3(JAG1):c.2781C>T (p.Val927=) rs746664646 0.00005
NM_000214.3(JAG1):c.2927C>T (p.Thr976Met) rs751809412 0.00005
NM_000214.3(JAG1):c.3038A>T (p.His1013Leu) rs758687380 0.00005
NM_000214.3(JAG1):c.3153C>T (p.Ala1051=) rs754593633 0.00005
NM_000214.3(JAG1):c.3343G>A (p.Val1115Met) rs148373907 0.00005
NM_000235.4(LIPA):c.342C>T (p.Asp114=) rs371133960 0.00005
NM_000251.3(MSH2):c.2400A>G (p.Leu800=) rs201298777 0.00005
NM_000257.4(MYH7):c.714C>T (p.Asn238=) rs202141819 0.00005
NM_000260.4(MYO7A):c.2006G>A (p.Arg669Gln) rs201178011 0.00005
NM_000260.4(MYO7A):c.5033G>A (p.Arg1678Gln) rs371115266 0.00005
NM_000260.4(MYO7A):c.5169-6C>T rs768594224 0.00005
NM_000283.4(PDE6B):c.2344G>A (p.Val782Met) rs145124626 0.00005
NM_000314.8(PTEN):c.720C>T (p.Tyr240=) rs190070312 0.00005
NM_000322.5(PRPH2):c.888C>T (p.Pro296=) rs183714869 0.00005
NM_000368.5(TSC1):c.1921C>T (p.Pro641Ser) rs374222196 0.00005
NM_000368.5(TSC1):c.479G>A (p.Arg160His) rs749979841 0.00005
NM_000381.4(MID1):c.99C>T (p.Cys33=) rs727504015 0.00005
NM_000391.4(TPP1):c.6A>T (p.Gly2=) rs747594496 0.00005
NM_000392.5(ABCC2):c.213C>T (p.Phe71=) rs770824435 0.00005
NM_000392.5(ABCC2):c.232C>T (p.Leu78=) rs764390911 0.00005
NM_000392.5(ABCC2):c.2826C>T (p.Asp942=) rs148081784 0.00005
NM_000426.4(LAMA2):c.5469C>T (p.Ser1823=) rs753886576 0.00005
NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg) rs756969021 0.00005
NM_000443.4(ABCB4):c.3411G>C (p.Arg1137=) rs771437431 0.00005
NM_000443.4(ABCB4):c.438C>T (p.Ile146=) rs776179529 0.00005
NM_000458.4(HNF1B):c.1654-4G>A rs193922485 0.00005
NM_000463.3(UGT1A1):c.1458C>T (p.Tyr486=) rs142077822 0.00005
NM_000463.3(UGT1A1):c.477C>T (p.Ile159=) rs199766420 0.00005
NM_000466.3(PEX1):c.1284C>T (p.Ala428=) rs145153467 0.00005
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile) rs139919229 0.00005
NM_000489.6(ATRX):c.7201-4A>G rs782317502 0.00005
NM_000492.4(CFTR):c.2769C>T (p.Ala923=) rs1800108 0.00005
NM_000540.3(RYR1):c.9456C>T (p.Phe3152=) rs369206584 0.00005
NM_000540.3(RYR1):c.9723C>T (p.Pro3241=) rs199828145 0.00005
NM_000545.8(HNF1A):c.1405C>T (p.His469Tyr) rs201811844 0.00005
NM_000548.5(TSC2):c.2584G>A (p.Ala862Thr) rs759837836 0.00005
NM_000719.7(CACNA1C):c.5424G>A (p.Ala1808=) rs587780881 0.00005
NM_000748.3(CHRNB2):c.1236C>T (p.Gly412=) rs767533378 0.00005
NM_000780.4(CYP7A1):c.1292A>G (p.Lys431Arg) rs151122002 0.00005
NM_001031710.3(KLHL7):c.1533C>T (p.Val511=) rs886043663 0.00005
NM_001035.3(RYR2):c.10699C>T (p.Arg3567Cys) rs559154874 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_001077365.2(POMT1):c.2031C>T (p.Ser677=) rs778418119 0.00005
NM_001098671.2(RASGRP2):c.1788G>A (p.Glu596=) rs372060305 0.00005
NM_001110556.2(FLNA):c.3379G>A (p.Val1127Met) rs398123617 0.00005
NM_001110556.2(FLNA):c.4263C>T (p.Thr1421=) rs398123618 0.00005
NM_001110556.2(FLNA):c.6770-5C>T rs370913359 0.00005
NM_001110792.2(MECP2):c.1096C>T (p.Arg366Cys) rs143876280 0.00005
NM_001123385.2(BCOR):c.3711G>A (p.Val1237=) rs753256966 0.00005
NM_001126121.2(SLC25A19):c.93G>A (p.Ala31=) rs143765189 0.00005
NM_001127222.2(CACNA1A):c.633T>C (p.Ser211=) rs202216404 0.00005
NM_001127649.3(PEX26):c.441C>T (p.Asp147=) rs770611373 0.00005
NM_001128178.3(NPHP1):c.1932C>T (p.Gly644=) rs200631256 0.00005
NM_001128225.3(SLC39A13):c.786+6C>T rs779162662 0.00005
NM_001130438.3(SPTAN1):c.1806+4A>G rs770046688 0.00005
NM_001130987.2(DYSF):c.1985-4C>G rs374489513 0.00005
NM_001148.6(ANK2):c.10708G>A (p.Glu3570Lys) rs180843436 0.00005
NM_001159699.2(FHL1):c.408C>T (p.Thr136=) rs755900253 0.00005
NM_001159699.2(FHL1):c.456C>T (p.Ile152=) rs747594885 0.00005
NM_001159699.2(FHL1):c.53C>T (p.Ala18Val) rs146125558 0.00005
NM_001164688.2(RD3):c.498C>T (p.Ile166=) rs779584830 0.00005
NM_001165963.4(SCN1A):c.1499G>A (p.Arg500Gln) rs200176684 0.00005
NM_001165963.4(SCN1A):c.1582A>T (p.Ser528Cys) rs372372558 0.00005
NM_001165963.4(SCN1A):c.2057A>C (p.Glu686Ala) rs374767754 0.00005
NM_001165963.4(SCN1A):c.3060C>A (p.His1020Gln) rs150154265 0.00005
NM_001173990.3(TMEM216):c.*6A>G rs541341560 0.00005
NM_001177316.2(SLC34A3):c.1164A>G (p.Ala388=) rs762986714 0.00005
NM_001177316.2(SLC34A3):c.987C>T (p.Ala329=) rs372523225 0.00005
NM_001199107.2(TBC1D24):c.1125C>T (p.His375=) rs749163517 0.00005
NM_001199107.2(TBC1D24):c.1525+6C>T rs758013935 0.00005
NM_001206979.2(NR1H4):c.345C>T (p.Gly115=) rs372358310 0.00005
NM_001267550.2(TTN):c.101506T>A (p.Cys33836Ser) rs766439271 0.00005
NM_001267550.2(TTN):c.103215C>T (p.Leu34405=) rs748516187 0.00005
NM_001267550.2(TTN):c.104000T>C (p.Ile34667Thr) rs727504476 0.00005
NM_001267550.2(TTN):c.105608T>C (p.Val35203Ala) rs771136390 0.00005
NM_001267550.2(TTN):c.106604T>C (p.Val35535Ala) rs368179478 0.00005
NM_001267550.2(TTN):c.11440G>A (p.Glu3814Lys) rs375103237 0.00005
NM_001267550.2(TTN):c.14339G>A (p.Ser4780Asn) rs147879266 0.00005
NM_001267550.2(TTN):c.1895G>A (p.Gly632Asp) rs150231219 0.00005
NM_001267550.2(TTN):c.19481T>G (p.Leu6494Arg) rs376857772 0.00005
NM_001267550.2(TTN):c.19541G>T (p.Trp6514Leu) rs760007747 0.00005
NM_001267550.2(TTN):c.208G>A (p.Val70Met) rs772248060 0.00005
NM_001267550.2(TTN):c.2386G>A (p.Asp796Asn) rs766935265 0.00005
NM_001267550.2(TTN):c.24114C>T (p.Asn8038=) rs199576800 0.00005
NM_001267550.2(TTN):c.2506G>A (p.Gly836Ser) rs751157908 0.00005
NM_001267550.2(TTN):c.26281G>A (p.Gly8761Ser) rs369385294 0.00005
NM_001267550.2(TTN):c.26619C>A (p.Asp8873Glu) rs772596633 0.00005
NM_001267550.2(TTN):c.27631T>C (p.Leu9211=) rs563954136 0.00005
NM_001267550.2(TTN):c.28042C>G (p.Gln9348Glu) rs794727987 0.00005
NM_001267550.2(TTN):c.28175-10C>T rs748478445 0.00005
NM_001267550.2(TTN):c.28971G>A (p.Ser9657=) rs370903846 0.00005
NM_001267550.2(TTN):c.29577A>G (p.Gln9859=) rs368780181 0.00005
NM_001267550.2(TTN):c.30283G>A (p.Ala10095Thr) rs201635835 0.00005
NM_001267550.2(TTN):c.33966G>A (p.Pro11322=) rs373083865 0.00005
NM_001267550.2(TTN):c.39230T>C (p.Val13077Ala) rs398124449 0.00005
NM_001267550.2(TTN):c.41812A>G (p.Met13938Val) rs201725483 0.00005
NM_001267550.2(TTN):c.43161G>A (p.Glu14387=) rs765214404 0.00005
NM_001267550.2(TTN):c.46489G>T (p.Val15497Phe) rs371299188 0.00005
NM_001267550.2(TTN):c.47129G>A (p.Arg15710His) rs185689179 0.00005
NM_001267550.2(TTN):c.4990C>T (p.Arg1664Trp) rs147695336 0.00005
NM_001267550.2(TTN):c.50385T>C (p.Gly16795=) rs374672630 0.00005
NM_001267550.2(TTN):c.5255G>A (p.Arg1752His) rs150737838 0.00005
NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile) rs190574498 0.00005
NM_001267550.2(TTN):c.54381+6C>G rs368265962 0.00005
NM_001267550.2(TTN):c.54811+10C>T rs796651993 0.00005
NM_001267550.2(TTN):c.56351G>A (p.Arg18784His) rs771284532 0.00005
NM_001267550.2(TTN):c.56535G>A (p.Thr18845=) rs529480368 0.00005
NM_001267550.2(TTN):c.56871C>T (p.Ser18957=) rs370619063 0.00005
NM_001267550.2(TTN):c.56947G>A (p.Ala18983Thr) rs377000174 0.00005
NM_001267550.2(TTN):c.57682C>T (p.Arg19228Cys) rs757820671 0.00005
NM_001267550.2(TTN):c.58841T>C (p.Ile19614Thr) rs199933004 0.00005
NM_001267550.2(TTN):c.59657T>G (p.Val19886Gly) rs755949982 0.00005
NM_001267550.2(TTN):c.64734C>T (p.Ser21578=) rs773855604 0.00005
NM_001267550.2(TTN):c.66386G>A (p.Arg22129His) rs187257105 0.00005
NM_001267550.2(TTN):c.67104A>C (p.Lys22368Asn) rs727503577 0.00005
NM_001267550.2(TTN):c.67637-4A>G rs376053678 0.00005
NM_001267550.2(TTN):c.70743C>T (p.His23581=) rs375194057 0.00005
NM_001267550.2(TTN):c.70864G>A (p.Val23622Ile) rs72646892 0.00005
NM_001267550.2(TTN):c.72167G>A (p.Arg24056His) rs398124455 0.00005
NM_001267550.2(TTN):c.73914G>A (p.Glu24638=) rs376382707 0.00005
NM_001267550.2(TTN):c.7392T>C (p.Leu2464=) rs565784637 0.00005
NM_001267550.2(TTN):c.73937G>A (p.Ser24646Asn) rs370902028 0.00005
NM_001267550.2(TTN):c.74582C>T (p.Ala24861Val) rs149232991 0.00005
NM_001267550.2(TTN):c.77654T>C (p.Ile25885Thr) rs199514898 0.00005
NM_001267550.2(TTN):c.77907C>T (p.Asn25969=) rs375903820 0.00005
NM_001267550.2(TTN):c.78039A>C (p.Glu26013Asp) rs755117644 0.00005
NM_001267550.2(TTN):c.80586C>T (p.Ser26862=) rs748292845 0.00005
NM_001267550.2(TTN):c.80720C>A (p.Pro26907Gln) rs375693686 0.00005
NM_001267550.2(TTN):c.81737T>C (p.Ile27246Thr) rs367603381 0.00005
NM_001267550.2(TTN):c.82220T>C (p.Ile27407Thr) rs376037252 0.00005
NM_001267550.2(TTN):c.86700C>T (p.Asn28900=) rs727504793 0.00005
NM_001267550.2(TTN):c.86949A>G (p.Glu28983=) rs375565646 0.00005
NM_001267550.2(TTN):c.89520C>T (p.Asp29840=) rs746569192 0.00005
NM_001267550.2(TTN):c.89760A>C (p.Glu29920Asp) rs747181293 0.00005
NM_001267550.2(TTN):c.92058C>T (p.Asn30686=) rs545632095 0.00005
NM_001267550.2(TTN):c.93917T>C (p.Ile31306Thr) rs555405542 0.00005
NM_001267550.2(TTN):c.9443G>A (p.Arg3148His) rs368786036 0.00005
NM_001267550.2(TTN):c.94700A>G (p.Asn31567Ser) rs886042885 0.00005
NM_001267550.2(TTN):c.95130C>A (p.Gly31710=) rs727504857 0.00005
NM_001267550.2(TTN):c.95541T>G (p.Arg31847=) rs749477738 0.00005
NM_001267550.2(TTN):c.97156G>A (p.Gly32386Arg) rs758534800 0.00005
NM_001267550.2(TTN):c.97472T>C (p.Ile32491Thr) rs781572378 0.00005
NM_001267550.2(TTN):c.98606G>A (p.Arg32869His) rs587780495 0.00005
NM_001267550.2(TTN):c.99434G>A (p.Arg33145Gln) rs371531675 0.00005
NM_001277115.2(DNAH11):c.5622-7C>A rs727503901 0.00005
NM_001278116.2(L1CAM):c.2872+9G>A rs398123363 0.00005
NM_001292063.2(OTOG):c.937C>A (p.Pro313Thr) rs777809121 0.00005
NM_001323289.2(CDKL5):c.1002T>C (p.Ala334=) rs756986206 0.00005
NM_001323289.2(CDKL5):c.2243A>G (p.Asn748Ser) rs748459878 0.00005
NM_001323289.2(CDKL5):c.2469C>T (p.Pro823=) rs369377144 0.00005
NM_001323289.2(CDKL5):c.93A>G (p.Arg31=) rs140332992 0.00005
NM_001330078.2(NRXN1):c.270G>T (p.Gln90His) rs199960045 0.00005
NM_001360.3(DHCR7):c.522C>T (p.Phe174=) rs140648594 0.00005
NM_001360.3(DHCR7):c.69C>T (p.Thr23=) rs199798127 0.00005
NM_001360016.2(G6PD):c.1329C>T (p.Asp443=) rs138919671 0.00005
NM_001365536.1(SCN9A):c.1975-8T>A rs752961542 0.00005
NM_001367721.1(CASK):c.1669-8C>G rs201327474 0.00005
NM_001374353.1(GLI2):c.1120C>T (p.Arg374Cys) rs200076785 0.00005
NM_001374353.1(GLI2):c.4241C>T (p.Pro1414Leu) rs749402521 0.00005
NM_001374385.1(ATP8B1):c.1620T>C (p.Asp540=) rs201514636 0.00005
NM_001374385.1(ATP8B1):c.2521A>C (p.Arg841=) rs149156534 0.00005
NM_001374385.1(ATP8B1):c.276T>C (p.Tyr92=) rs749127600 0.00005
NM_001378414.1(HDAC4):c.1434C>T (p.Asn478=) rs754530774 0.00005
NM_001379286.1(ZNF423):c.1176G>A (p.Pro392=) rs748728165 0.00005
NM_001429.4(EP300):c.2419A>G (p.Ile807Val) rs201054979 0.00005
NM_001457.4(FLNB):c.2965G>A (p.Val989Met) rs76471260 0.00005
NM_001457.4(FLNB):c.6003C>T (p.Asp2001=) rs184065600 0.00005
NM_001793.6(CDH3):c.1011G>C (p.Val337=) rs201726457 0.00005
NM_001848.3(COL6A1):c.2709C>T (p.Ala903=) rs139018148 0.00005
NM_001849.4(COL6A2):c.2205C>T (p.His735=) rs755147431 0.00005
NM_001849.4(COL6A2):c.2565C>T (p.Phe855=) rs774805224 0.00005
NM_001849.4(COL6A2):c.648C>T (p.Tyr216=) rs150004111 0.00005
NM_001854.4(COL11A1):c.3984A>G (p.Gln1328=) rs767276283 0.00005
NM_001966.4(EHHADH):c.855C>T (p.Ser285=) rs752275123 0.00005
NM_002047.4(GARS1):c.1857C>T (p.Leu619=) rs183573304 0.00005
NM_002109.6(HARS1):c.694C>T (p.Arg232Cys) rs186526524 0.00005
NM_002180.3(IGHMBP2):c.2643G>A (p.Glu881=) rs374950193 0.00005
NM_002473.6(MYH9):c.5151-4G>A rs368125656 0.00005
NM_002547.3(OPHN1):c.702+8T>C rs369382527 0.00005
NM_002693.3(POLG):c.1850G>A (p.Arg617His) rs779961986 0.00005
NM_002693.3(POLG):c.2880C>T (p.Pro960=) rs752500492 0.00005
NM_002693.3(POLG):c.3450C>T (p.Ala1150=) rs774880085 0.00005
NM_002979.5(SCP2):c.1632C>T (p.Asn544=) rs143534838 0.00005
NM_003482.4(KMT2D):c.14474G>A (p.Arg4825Gln) rs758494772 0.00005
NM_003491.4(NAA10):c.201G>C (p.Val67=) rs375971315 0.00005
NM_003673.4(TCAP):c.113G>T (p.Cys38Phe) rs375310569 0.00005
NM_003742.4(ABCB11):c.280G>A (p.Asp94Asn) rs760920706 0.00005
NM_004006.3(DMD):c.145C>T (p.Arg49Cys) rs147548697 0.00005
NM_004006.3(DMD):c.1687C>T (p.Arg563Cys) rs145739725 0.00005
NM_004006.3(DMD):c.2245A>G (p.Ile749Val) rs771803281 0.00005
NM_004006.3(DMD):c.3269A>T (p.Gln1090Leu) rs747239076 0.00005
NM_004006.3(DMD):c.3375G>A (p.Ser1125=) rs191164314 0.00005
NM_004006.3(DMD):c.3936G>C (p.Leu1312Phe) rs377156960 0.00005
NM_004006.3(DMD):c.3959C>G (p.Pro1320Arg) rs766977775 0.00005
NM_004006.3(DMD):c.434G>A (p.Arg145Gln) rs398123952 0.00005
NM_004006.3(DMD):c.501G>T (p.Leu167=) rs150239235 0.00005
NM_004006.3(DMD):c.6452G>A (p.Gly2151Asp) rs727503815 0.00005
NM_004006.3(DMD):c.7187C>T (p.Thr2396Ile) rs1057519106 0.00005
NM_004006.3(DMD):c.7914T>C (p.Asp2638=) rs754997935 0.00005
NM_004006.3(DMD):c.8322G>A (p.Leu2774=) rs72466575 0.00005
NM_004006.3(DMD):c.8886C>T (p.Pro2962=) rs371648038 0.00005
NM_004006.3(DMD):c.923C>A (p.Thr308Asn) rs145064612 0.00005
NM_004369.4(COL6A3):c.2994G>A (p.Ser998=) rs768233315 0.00005
NM_004369.4(COL6A3):c.3555C>T (p.Ala1185=) rs373719229 0.00005
NM_004369.4(COL6A3):c.3901C>T (p.Arg1301Trp) rs150430813 0.00005
NM_004369.4(COL6A3):c.7749G>A (p.Thr2583=) rs758582935 0.00005
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg) rs147805823 0.00005
NM_004380.3(CREBBP):c.3060+10G>A rs398124143 0.00005
NM_004463.3(FGD1):c.2047-5C>A rs368646447 0.00005
NM_004519.4(KCNQ3):c.1403A>G (p.Asn468Ser) rs118192252 0.00005
NM_004560.4(ROR2):c.822C>T (p.Asn274=) rs140557090 0.00005
NM_004817.4(TJP2):c.2034C>T (p.Asn678=) rs373160031 0.00005
NM_004820.5(CYP7B1):c.1036T>C (p.Leu346=) rs535728519 0.00005
NM_004836.7(EIF2AK3):c.744C>T (p.Val248=) rs147298435 0.00005
NM_005120.3(MED12):c.3797G>A (p.Arg1266His) rs587780391 0.00005
NM_005120.3(MED12):c.4971T>C (p.Leu1657=) rs398124198 0.00005
NM_005359.6(SMAD4):c.947A>G (p.Asn316Ser) rs377119288 0.00005
NM_005422.4(TECTA):c.2088C>T (p.Cys696=) rs368288093 0.00005
NM_005422.4(TECTA):c.2288C>T (p.Pro763Leu) rs151296951 0.00005
NM_005422.4(TECTA):c.811G>C (p.Glu271Gln) rs555093382 0.00005
NM_005529.7(HSPG2):c.13098C>T (p.Pro4366=) rs759562639 0.00005
NM_005529.7(HSPG2):c.2847G>A (p.Glu949=) rs773662857 0.00005
NM_005633.4(SOS1):c.3387C>T (p.Gly1129=) rs772823827 0.00005
NM_006005.3(WFS1):c.2181C>T (p.Ile727=) rs140286718 0.00005
NM_006031.6(PCNT):c.3441C>T (p.Asp1147=) rs201652457 0.00005
NM_006031.6(PCNT):c.7180-7G>A rs201549624 0.00005
NM_006516.4(SLC2A1):c.1034C>T (p.Ala345Val) rs769943554 0.00005
NM_006790.3(MYOT):c.1335C>T (p.Asn445=) rs769506328 0.00005
NM_006946.4(SPTBN2):c.5593C>T (p.Arg1865Trp) rs755595060 0.00005
NM_012210.4(TRIM32):c.1458C>T (p.Thr486=) rs141965401 0.00005
NM_012210.4(TRIM32):c.693A>C (p.Ala231=) rs368455215 0.00005
NM_012470.4(TNPO3):c.2274-5A>G rs567711266 0.00005
NM_014141.6(CNTNAP2):c.237C>T (p.Ser79=) rs145162968 0.00005
NM_014141.6(CNTNAP2):c.3180G>A (p.Ala1060=) rs372645983 0.00005
NM_014251.3(SLC25A13):c.960A>G (p.Pro320=) rs765358773 0.00005
NM_014363.6(SACS):c.1202G>A (p.Arg401Gln) rs749599838 0.00005
NM_014780.5(CUL7):c.4146T>C (p.Tyr1382=) rs760451045 0.00005
NM_015102.5(NPHP4):c.-8C>T rs375807896 0.00005
NM_015102.5(NPHP4):c.1408C>T (p.Arg470Trp) rs367686843 0.00005
NM_015102.5(NPHP4):c.1851C>T (p.Ala617=) rs201192584 0.00005
NM_016239.4(MYO15A):c.6623C>T (p.Pro2208Leu) rs376939609 0.00005
NM_016247.4(IMPG2):c.1794C>T (p.Asp598=) rs371805004 0.00005
NM_017780.4(CHD7):c.3366G>C (p.Lys1122Asn) rs41272440 0.00005
NM_017780.4(CHD7):c.5275A>C (p.Lys1759Gln) rs371988345 0.00005
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=) rs188188906 0.00005
NM_018136.5(ASPM):c.9657T>G (p.Ser3219=) rs756879923 0.00005
NM_018668.5(VPS33B):c.1749C>T (p.Ala583=) rs201436915 0.00005
NM_020297.4(ABCC9):c.4512+777G>A rs542730918 0.00005
NM_020822.3(KCNT1):c.2949C>T (p.Phe983=) rs764574987 0.00005
NM_020822.3(KCNT1):c.408C>T (p.Leu136=) rs370046449 0.00005
NM_020822.3(KCNT1):c.981G>A (p.Ser327=) rs373317695 0.00005
NM_021939.4(FKBP10):c.1269G>A (p.Gly423=) rs371540139 0.00005
NM_022081.6(HPS4):c.1857G>A (p.Pro619=) rs373421312 0.00005
NM_022124.6(CDH23):c.330C>T (p.His110=) rs201232514 0.00005
NM_022437.3(ABCG8):c.1353C>T (p.Leu451=) rs373560827 0.00005
NM_022455.5(NSD1):c.2266A>G (p.Asn756Asp) rs142657029 0.00005
NM_022455.5(NSD1):c.2399T>C (p.Met800Thr) rs142023792 0.00005
NM_022455.5(NSD1):c.4303-4A>G rs775759198 0.00005
NM_024301.5(FKRP):c.1236C>T (p.His412=) rs201076863 0.00005
NM_024408.4(NOTCH2):c.6140G>A (p.Arg2047Gln) rs371060516 0.00005
NM_024408.4(NOTCH2):c.6979A>G (p.Thr2327Ala) rs587778578 0.00005
NM_024757.5(EHMT1):c.2442C>T (p.Ala814=) rs772286870 0.00005
NM_031220.4(PITPNM3):c.747G>A (p.Lys249=) rs371282530 0.00005
NM_032119.4(ADGRV1):c.11253C>T (p.Tyr3751=) rs376689763 0.00005
NM_032119.4(ADGRV1):c.12208G>A (p.Val4070Ile) rs200943280 0.00005
NM_032119.4(ADGRV1):c.12778G>T (p.Val4260Leu) rs773072116 0.00005
NM_032119.4(ADGRV1):c.14970C>A (p.Leu4990=) rs368420512 0.00005
NM_032119.4(ADGRV1):c.16325G>A (p.Gly5442Asp) rs376505416 0.00005
NM_032119.4(ADGRV1):c.17187C>T (p.Cys5729=) rs371639191 0.00005
NM_032119.4(ADGRV1):c.18144T>C (p.His6048=) rs188017433 0.00005
NM_032119.4(ADGRV1):c.6338A>G (p.Asn2113Ser) rs201579557 0.00005
NM_032119.4(ADGRV1):c.6859G>A (p.Val2287Ile) rs868801998 0.00005
NM_032119.4(ADGRV1):c.8110A>T (p.Ile2704Phe) rs376318779 0.00005
NM_080680.3(COL11A2):c.4675C>T (p.Arg1559Trp) rs370966667 0.00005
NM_138694.4(PKHD1):c.11607C>T (p.Ala3869=) rs752509045 0.00005
NM_139343.3(BIN1):c.924C>T (p.Pro308=) rs367611371 0.00005
NM_144639.3(UROC1):c.970C>T (p.Arg324Cys) rs377309471 0.00005
NM_145200.5(CABP4):c.187G>A (p.Gly63Ser) rs767502632 0.00005
NM_152564.5(VPS13B):c.8751G>A (p.Ser2917=) rs775883776 0.00005
NM_170699.3(GPBAR1):c.857G>A (p.Arg286His) rs201573186 0.00005
NM_170707.4(LMNA):c.1488G>A (p.Thr496=) rs375516745 0.00005
NM_172364.5(CACNA2D4):c.2054+4A>T rs200648405 0.00005
NM_181332.3(NLGN4X):c.999G>A (p.Pro333=) rs398124367 0.00005
NM_182914.3(SYNE2):c.3885C>T (p.His1295=) rs570341792 0.00005
NM_182961.4(SYNE1):c.11702G>C (p.Ser3901Thr) rs376327805 0.00005
NM_182961.4(SYNE1):c.20069C>T (p.Thr6690Met) rs143674856 0.00005
NM_194248.3(OTOF):c.40C>T (p.Arg14Trp) rs774530840 0.00005
NM_198525.3(KIF7):c.3795G>A (p.Thr1265=) rs148749994 0.00005
NM_201384.3(PLEC):c.10207C>T (p.Arg3403Trp) rs542488020 0.00005
NM_201384.3(PLEC):c.12978C>T (p.Thr4326=) rs781832846 0.00005
NM_201384.3(PLEC):c.13449C>T (p.Ser4483=) rs782187551 0.00005
NM_201384.3(PLEC):c.3873G>A (p.Ala1291=) rs374669316 0.00005
NM_201384.3(PLEC):c.4218G>A (p.Glu1406=) rs782584192 0.00005
NM_201384.3(PLEC):c.6168C>T (p.Phe2056=) rs370313601 0.00005
NM_201384.3(PLEC):c.9023G>A (p.Arg3008Gln) rs200176579 0.00005
NM_201384.3(PLEC):c.9528C>T (p.Ala3176=) rs368317567 0.00005
NM_206933.4(USH2A):c.14073C>T (p.Asn4691=) rs370364142 0.00005
NM_206933.4(USH2A):c.14760C>T (p.Ser4920=) rs778669346 0.00005
NM_207361.6(FREM2):c.6807G>A (p.Ser2269=) rs752080876 0.00005
NM_000023.4(SGCA):c.270C>T (p.Tyr90=) rs749205073 0.00004
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu) rs368080169 0.00004
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr) rs587781365 0.00004
NM_000057.4(BLM):c.2515A>G (p.Lys839Glu) rs201427280 0.00004
NM_000059.4(BRCA2):c.1021T>C (p.Cys341Arg) rs55833327 0.00004
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser) rs80358531 0.00004
NM_000059.4(BRCA2):c.6143A>T (p.Asn2048Ile) rs80358853 0.00004
NM_000070.3(CAPN3):c.1557C>T (p.His519=) rs368385372 0.00004
NM_000070.3(CAPN3):c.183C>T (p.Phe61=) rs146069933 0.00004
NM_000088.4(COL1A1):c.299-9G>T rs373041336 0.00004
NM_000117.3(EMD):c.171C>T (p.Ser57=) rs900267221 0.00004
NM_000152.5(GAA):c.1416C>T (p.Thr472=) rs368492669 0.00004
NM_000152.5(GAA):c.1629C>T (p.Tyr543=) rs372193105 0.00004
NM_000152.5(GAA):c.2656G>A (p.Val886Met) rs372802420 0.00004
NM_000152.5(GAA):c.861C>T (p.Pro287=) rs778580823 0.00004
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833 0.00004
NM_000169.3(GLA):c.714T>C (p.Ser238=) rs397515872 0.00004
NM_000179.3(MSH6):c.2418C>T (p.Ser806=) rs770992427 0.00004
NM_000214.3(JAG1):c.3651C>T (p.Ile1217=) rs542831744 0.00004
NM_000231.3(SGCG):c.414A>G (p.Gln138=) rs770596449 0.00004
NM_000235.4(LIPA):c.714G>A (p.Ala238=) rs139282720 0.00004
NM_000260.4(MYO7A):c.3729G>A (p.Pro1243=) rs727504023 0.00004
NM_000288.4(PEX7):c.576C>T (p.Ile192=) rs776411851 0.00004
NM_000295.5(SERPINA1):c.1065+6A>T rs79078626 0.00004
NM_000295.5(SERPINA1):c.381C>T (p.Leu127=) rs372438611 0.00004
NM_000307.5(POU3F4):c.588G>C (p.Gln196His) rs770776910 0.00004
NM_000316.3(PTH1R):c.645G>T (p.Leu215=) rs201490454 0.00004
NM_000335.5(SCN5A):c.435C>T (p.Cys145=) rs587781159 0.00004
NM_000337.6(SGCD):c.756G>A (p.Thr252=) rs756467431 0.00004
NM_000346.4(SOX9):c.918G>A (p.Val306=) rs367966473 0.00004
NM_000350.3(ABCA4):c.1699G>A (p.Val567Met) rs74516571 0.00004
NM_000368.5(TSC1):c.2115G>A (p.Glu705=) rs142662480 0.00004
NM_000388.4(CASR):c.60C>T (p.Tyr20=) rs201564143 0.00004
NM_000393.5(COL5A2):c.870T>C (p.Pro290=) rs139656817 0.00004
NM_000414.4(HSD17B4):c.1131C>T (p.Phe377=) rs200347945 0.00004
NM_000440.3(PDE6A):c.251A>T (p.Lys84Met) rs771965437 0.00004
NM_000443.4(ABCB4):c.1356+10A>G rs374723850 0.00004
NM_000452.3(SLC10A2):c.846G>A (p.Glu282=) rs746750365 0.00004
NM_000458.4(HNF1B):c.1008C>T (p.His336=) rs150268130 0.00004
NM_000458.4(HNF1B):c.1539C>T (p.Tyr513=) rs780554506 0.00004
NM_000478.6(ALPL):c.398C>G (p.Ala133Gly) rs184095519 0.00004
NM_000492.4(CFTR):c.1227T>C (p.Phe409=) rs778548877 0.00004
NM_000492.4(CFTR):c.393T>C (p.Phe131=) rs1039221071 0.00004
NM_000516.7(GNAS):c.108C>T (p.Val36=) rs146581290 0.00004
NM_000539.3(RHO):c.362-10T>C rs568571580 0.00004
NM_000540.3(RYR1):c.10917G>A (p.Thr3639=) rs371952058 0.00004
NM_000540.3(RYR1):c.13498G>A (p.Glu4500Lys) rs752192756 0.00004
NM_000540.3(RYR1):c.3108C>A (p.Asp1036Glu) rs759317223 0.00004
NM_000540.3(RYR1):c.8305G>A (p.Asp2769Asn) rs566495420 0.00004
NM_000540.3(RYR1):c.9354G>A (p.Ala3118=) rs146408926 0.00004
NM_000543.5(SMPD1):c.39C>T (p.Pro13=) rs775473869 0.00004
NM_000719.7(CACNA1C):c.1554C>T (p.Arg518=) rs398123517 0.00004
NM_000726.5(CACNB4):c.36G>A (p.Ala12=) rs754380009 0.00004
NM_000780.4(CYP7A1):c.1409T>C (p.Ile470Thr) rs779269724 0.00004
NM_000780.4(CYP7A1):c.318G>A (p.Ala106=) rs200839929 0.00004
NM_000784.4(CYP27A1):c.1569C>T (p.Gly523=) rs748616891 0.00004
NM_000883.4(IMPDH1):c.1623C>T (p.Phe541=) rs749416988 0.00004
NM_001005242.3(PKP2):c.1452G>A (p.Thr484=) rs727504098 0.00004
NM_001005242.3(PKP2):c.789G>A (p.Thr263=) rs760432217 0.00004
NM_001035.3(RYR2):c.4160+7A>G rs377465289 0.00004
NM_001035.3(RYR2):c.5588C>T (p.Thr1863Met) rs770863319 0.00004
NM_001040142.2(SCN2A):c.2019C>G (p.Gly673=) rs587781156 0.00004
NM_001040142.2(SCN2A):c.3210C>T (p.Asp1070=) rs187731029 0.00004
NM_001048166.1(STIL):c.1227T>C (p.Ser409=) rs200532713 0.00004
NM_001077365.2(POMT1):c.2003+9G>A rs368975092 0.00004
NM_001077365.2(POMT1):c.310C>T (p.Leu104=) rs146982282 0.00004
NM_001079802.2(FKTN):c.1228C>A (p.His410Asn) rs146272618 0.00004
NM_001083961.2(WDR62):c.1977C>T (p.Asn659=) rs79238222 0.00004
NM_001105206.3(LAMA4):c.3165C>T (p.Ser1055=) rs782303510 0.00004
NM_001110556.2(FLNA):c.1964G>A (p.Arg655His) rs782563602 0.00004
NM_001110556.2(FLNA):c.3216G>A (p.Ala1072=) rs782006734 0.00004
NM_001110556.2(FLNA):c.5218-4G>A rs370196495 0.00004
NM_001122630.2(CDKN1C):c.579G>A (p.Pro193=) rs794726872 0.00004
NM_001127222.2(CACNA1A):c.1233G>A (p.Gly411=) rs764453012 0.00004
NM_001127222.2(CACNA1A):c.5451C>T (p.Thr1817=) rs188863534 0.00004
NM_001128178.3(NPHP1):c.1861G>C (p.Glu621Gln) rs780427871 0.00004
NM_001128225.3(SLC39A13):c.222T>A (p.Gly74=) rs753665968 0.00004
NM_001130987.2(DYSF):c.2370G>A (p.Ala790=) rs553605812 0.00004
NM_001130987.2(DYSF):c.2820C>T (p.Ala940=) rs373328706 0.00004
NM_001130987.2(DYSF):c.5742C>T (p.Phe1914=) rs769289729 0.00004
NM_001145358.2(SIN3A):c.621G>A (p.Gln207=) rs372433846 0.00004
NM_001148.6(ANK2):c.1773T>C (p.Ser591=) rs374775005 0.00004
NM_001164508.2(NEB):c.7582G>A (p.Asp2528Asn) rs369496057 0.00004
NM_001177316.2(SLC34A3):c.882G>A (p.Pro294=) rs370122685 0.00004
NM_001182.5(ALDH7A1):c.1017T>C (p.His339=) rs200394848 0.00004
NM_001184880.2(PCDH19):c.1434C>T (p.Arg478=) rs137962077 0.00004
NM_001191061.2(SLC25A22):c.726C>T (p.Ala242=) rs771026197 0.00004
NM_001193315.2(VIPAS39):c.632-9G>A rs370850533 0.00004
NM_001199107.2(TBC1D24):c.606G>A (p.Ser202=) rs61731478 0.00004
NM_001200.4(BMP2):c.370A>G (p.Thr124Ala) rs201118225 0.00004
NM_001206979.2(NR1H4):c.302C>T (p.Thr101Ile) rs200146597 0.00004
NM_001206979.2(NR1H4):c.963T>C (p.Ile321=) rs757460153 0.00004
NM_001267550.2(TTN):c.100384G>A (p.Glu33462Lys) rs748104690 0.00004
NM_001267550.2(TTN):c.101037G>A (p.Gln33679=) rs377190399 0.00004
NM_001267550.2(TTN):c.104581C>T (p.Arg34861Cys) rs398124463 0.00004
NM_001267550.2(TTN):c.104978C>T (p.Thr34993Met) rs368945564 0.00004
NM_001267550.2(TTN):c.105261G>A (p.Thr35087=) rs556741970 0.00004
NM_001267550.2(TTN):c.106927G>A (p.Val35643Ile) rs754459138 0.00004
NM_001267550.2(TTN):c.107254C>T (p.Arg35752Cys) rs528535076 0.00004
NM_001267550.2(TTN):c.11910A>T (p.Thr3970=) rs727503660 0.00004
NM_001267550.2(TTN):c.13618G>A (p.Val4540Met) rs201046911 0.00004
NM_001267550.2(TTN):c.1447G>A (p.Ala483Thr) rs34337578 0.00004
NM_001267550.2(TTN):c.15822A>T (p.Ala5274=) rs779456916 0.00004
NM_001267550.2(TTN):c.16056T>C (p.Asp5352=) rs376820575 0.00004
NM_001267550.2(TTN):c.16310G>A (p.Ser5437Asn) rs794727755 0.00004
NM_001267550.2(TTN):c.17833T>C (p.Ser5945Pro) rs776790387 0.00004
NM_001267550.2(TTN):c.18655G>A (p.Glu6219Lys) rs72648948 0.00004
NM_001267550.2(TTN):c.19677A>C (p.Ala6559=) rs372654116 0.00004
NM_001267550.2(TTN):c.21906C>T (p.Cys7302=) rs370548693 0.00004
NM_001267550.2(TTN):c.22575T>A (p.Asp7525Glu) rs200061856 0.00004
NM_001267550.2(TTN):c.23067C>T (p.Asp7689=) rs191854953 0.00004
NM_001267550.2(TTN):c.23444G>A (p.Arg7815Gln) rs372804810 0.00004
NM_001267550.2(TTN):c.2422C>T (p.Arg808Cys) rs149155733 0.00004
NM_001267550.2(TTN):c.2734C>T (p.Arg912Cys) rs371156190 0.00004
NM_001267550.2(TTN):c.29230C>T (p.Arg9744Cys) rs375266859 0.00004
NM_001267550.2(TTN):c.3030C>T (p.Ser1010=) rs374346637 0.00004
NM_001267550.2(TTN):c.31518C>T (p.Pro10506=) rs746912694 0.00004
NM_001267550.2(TTN):c.33419-9T>C rs1030703466 0.00004
NM_001267550.2(TTN):c.34734A>G (p.Val11578=) rs866407525 0.00004
NM_001267550.2(TTN):c.36776C>T (p.Ala12259Val) rs755562550 0.00004
NM_001267550.2(TTN):c.3680A>G (p.Lys1227Arg) rs541811273 0.00004
NM_001267550.2(TTN):c.39250G>T (p.Val13084Leu) rs72650062 0.00004
NM_001267550.2(TTN):c.40557C>T (p.Ser13519=) rs371178429 0.00004
NM_001267550.2(TTN):c.41920G>A (p.Val13974Ile) rs373881831 0.00004
NM_001267550.2(TTN):c.42672G>T (p.Leu14224=) rs368155350 0.00004
NM_001267550.2(TTN):c.42873G>A (p.Ala14291=) rs370216450 0.00004
NM_001267550.2(TTN):c.44223G>A (p.Thr14741=) rs368830196 0.00004
NM_001267550.2(TTN):c.44418C>T (p.Ser14806=) rs368005198 0.00004
NM_001267550.2(TTN):c.45760A>T (p.Ile15254Phe) rs72677226 0.00004
NM_001267550.2(TTN):c.46363G>A (p.Asp15455Asn) rs370813526 0.00004
NM_001267550.2(TTN):c.47089C>T (p.Arg15697Cys) rs780334981 0.00004
NM_001267550.2(TTN):c.47217C>T (p.Gly15739=) rs373305832 0.00004
NM_001267550.2(TTN):c.48395G>A (p.Arg16132His) rs397517593 0.00004
NM_001267550.2(TTN):c.48571A>G (p.Ile16191Val) rs747433688 0.00004
NM_001267550.2(TTN):c.48589C>T (p.Arg16197Cys) rs748917057 0.00004
NM_001267550.2(TTN):c.49263C>T (p.Tyr16421=) rs376188859 0.00004
NM_001267550.2(TTN):c.51249C>A (p.Val17083=) rs377342233 0.00004
NM_001267550.2(TTN):c.5264A>G (p.Asn1755Ser) rs201904897 0.00004
NM_001267550.2(TTN):c.54360T>C (p.Thr18120=) rs749248039 0.00004
NM_001267550.2(TTN):c.54477C>G (p.Val18159=) rs374335905 0.00004
NM_001267550.2(TTN):c.5582G>A (p.Arg1861His) rs140914855 0.00004
NM_001267550.2(TTN):c.56686G>A (p.Val18896Met) rs370629962 0.00004
NM_001267550.2(TTN):c.58008T>C (p.Asn19336=) rs770525693 0.00004
NM_001267550.2(TTN):c.597A>G (p.Val199=) rs144214844 0.00004
NM_001267550.2(TTN):c.6008G>A (p.Arg2003His) rs753167856 0.00004
NM_001267550.2(TTN):c.60786T>C (p.Pro20262=) rs1217782958 0.00004
NM_001267550.2(TTN):c.61481T>C (p.Ile20494Thr) rs374845737 0.00004
NM_001267550.2(TTN):c.62097A>G (p.Pro20699=) rs774995592 0.00004
NM_001267550.2(TTN):c.62547G>A (p.Thr20849=) rs368969893 0.00004
NM_001267550.2(TTN):c.63463C>T (p.Arg21155Cys) rs374727686 0.00004
NM_001267550.2(TTN):c.64101G>A (p.Pro21367=) rs397517657 0.00004
NM_001267550.2(TTN):c.65047C>A (p.Pro21683Thr) rs528707403 0.00004
NM_001267550.2(TTN):c.65173G>A (p.Val21725Ile) rs368716894 0.00004
NM_001267550.2(TTN):c.65649G>T (p.Leu21883Phe) rs374736305 0.00004
NM_001267550.2(TTN):c.72114G>A (p.Thr24038=) rs768064912 0.00004
NM_001267550.2(TTN):c.73935C>A (p.Gly24645=) rs375726644 0.00004
NM_001267550.2(TTN):c.74513G>C (p.Gly24838Ala) rs200723435 0.00004
NM_001267550.2(TTN):c.75668C>T (p.Thr25223Ile) rs370070176 0.00004
NM_001267550.2(TTN):c.77268A>G (p.Ala25756=) rs376372388 0.00004
NM_001267550.2(TTN):c.78383G>A (p.Arg26128His) rs757957389 0.00004
NM_001267550.2(TTN):c.78774A>G (p.Arg26258=) rs368270588 0.00004
NM_001267550.2(TTN):c.81147T>C (p.Ala27049=) rs765706611 0.00004
NM_001267550.2(TTN):c.8640G>A (p.Glu2880=) rs879222360 0.00004
NM_001267550.2(TTN):c.86538A>T (p.Pro28846=) rs747423090 0.00004
NM_001267550.2(TTN):c.86910C>T (p.Gly28970=) rs397517736 0.00004
NM_001267550.2(TTN):c.87495C>T (p.Asp29165=) rs371763584 0.00004
NM_001267550.2(TTN):c.88513C>T (p.Arg29505Cys) rs372360369 0.00004
NM_001267550.2(TTN):c.90237C>T (p.His30079=) rs756663688 0.00004
NM_001267550.2(TTN):c.90786C>T (p.Ile30262=) rs727504439 0.00004
NM_001267550.2(TTN):c.91749C>T (p.Ser30583=) rs886044458 0.00004
NM_001267550.2(TTN):c.93972A>G (p.Glu31324=) rs727504528 0.00004
NM_001267550.2(TTN):c.9402C>T (p.Asn3134=) rs587780987 0.00004
NM_001267550.2(TTN):c.94664G>A (p.Arg31555His) rs727503545 0.00004
NM_001267550.2(TTN):c.96140C>T (p.Thr32047Met) rs375640847 0.00004
NM_001267550.2(TTN):c.9827A>G (p.Glu3276Gly) rs377049518 0.00004
NM_001267550.2(TTN):c.98641C>T (p.Pro32881Ser) rs367979582 0.00004
NM_001286577.2(C2CD3):c.3929T>C (p.Ile1310Thr) rs757220593 0.00004
NM_001297.5(CNGB1):c.291-5C>T rs372308762 0.00004
NM_001330078.2(NRXN1):c.3403A>G (p.Ile1135Val) rs765360600 0.00004
NM_001330260.2(SCN8A):c.402T>C (p.Phe134=) rs559668426 0.00004
NM_001349338.3(FOXP1):c.1383C>T (p.Asn461=) rs372403441 0.00004
NM_001353214.3(DYM):c.1344A>G (p.Gln448=) rs77902523 0.00004
NM_001369268.1(ACAN):c.1527G>A (p.Ser509=) rs371049725 0.00004
NM_001370658.1(BTD):c.1536G>A (p.Thr512=) rs774052068 0.00004
NM_001374353.1(GLI2):c.606C>T (p.Ser202=) rs146181686 0.00004
NM_001374385.1(ATP8B1):c.1659C>T (p.Pro553=) rs761202112 0.00004
NM_001374385.1(ATP8B1):c.1754A>G (p.Glu585Gly) rs35238397 0.00004
NM_001374385.1(ATP8B1):c.3201C>T (p.Ser1067=) rs777459332 0.00004
NM_001378120.1(MBD5):c.692T>C (p.Ile231Thr) rs199530726 0.00004
NM_001378120.1(MBD5):c.796A>G (p.Ile266Val) rs568826753 0.00004
NM_001378120.1(MBD5):c.980T>C (p.Met327Thr) rs776228346 0.00004
NM_001378454.1(ALMS1):c.11463G>A (p.Glu3821=) rs750087396 0.00004
NM_001378615.1(CC2D2A):c.3501C>T (p.Asp1167=) rs779304750 0.00004
NM_001379081.2(FREM1):c.3932T>C (p.Ile1311Thr) rs182527895 0.00004
NM_001379110.1(SLC9A6):c.2021C>T (p.Thr674Met) rs886044780 0.00004
NM_001384140.1(PCDH15):c.3717+10T>C rs376158566 0.00004
NM_001384474.1(LOXHD1):c.3061+8G>T rs764128579 0.00004
NM_001429.4(EP300):c.4347T>C (p.His1449=) rs137986257 0.00004
NM_001458.5(FLNC):c.7291G>A (p.Val2431Met) rs572952653 0.00004
NM_001844.5(COL2A1):c.3842G>A (p.Arg1281His) rs763097721 0.00004
NM_001848.3(COL6A1):c.1575C>T (p.Pro525=) rs781031251 0.00004
NM_001848.3(COL6A1):c.1656C>T (p.Ala552=) rs377213930 0.00004
NM_001848.3(COL6A1):c.2109G>A (p.Thr703=) rs760649238 0.00004
NM_001848.3(COL6A1):c.2610C>T (p.Asp870=) rs759989949 0.00004
NM_001849.4(COL6A2):c.1817-8C>A rs750444649 0.00004
NM_001849.4(COL6A2):c.1869C>T (p.Ser623=) rs760704425 0.00004
NM_001849.4(COL6A2):c.2490G>A (p.Arg830=) rs748047522 0.00004
NM_001849.4(COL6A2):c.735+7G>A rs575365107 0.00004
NM_001853.4(COL9A3):c.1538C>T (p.Pro513Leu) rs202094480 0.00004
NM_001854.4(COL11A1):c.4377C>T (p.Gly1459=) rs917541931 0.00004
NM_001854.4(COL11A1):c.510C>T (p.Ser170=) rs749497678 0.00004
NM_001927.4(DES):c.1158C>T (p.Arg386=) rs774323736 0.00004
NM_001927.4(DES):c.63C>T (p.Ala21=) rs201458068 0.00004
NM_001966.4(EHHADH):c.144T>C (p.Ile48=) rs370127523 0.00004
NM_001966.4(EHHADH):c.919A>G (p.Thr307Ala) rs185950214 0.00004
NM_001999.4(FBN2):c.2555-6T>C rs376507178 0.00004
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser) rs199910288 0.00004
NM_002180.3(IGHMBP2):c.1737C>T (p.Phe579=) rs368775789 0.00004
NM_002458.3(MUC5B):c.17016C>T (p.Cys5672=) rs368986524 0.00004
NM_002474.3(MYH11):c.503-9T>C rs554607161 0.00004
NM_002693.3(POLG):c.2487C>T (p.Pro829=) rs147563527 0.00004
NM_002693.3(POLG):c.2599-10C>T rs769346219 0.00004
NM_002693.3(POLG):c.3222G>T (p.Val1074=) rs746773616 0.00004
NM_002693.3(POLG):c.3444C>T (p.Arg1148=) rs374937961 0.00004
NM_002900.3(RBP3):c.1581G>A (p.Pro527=) rs782233629 0.00004
NM_003049.4(SLC10A1):c.517G>C (p.Gly173Arg) rs750470666 0.00004
NM_003060.4(SLC22A5):c.523G>A (p.Val175Met) rs781721860 0.00004
NM_003482.4(KMT2D):c.10165A>G (p.Met3389Val) rs372740284 0.00004
NM_003482.4(KMT2D):c.10741-7A>G rs550510739 0.00004
NM_003482.4(KMT2D):c.1075C>T (p.Arg359Cys) rs372085797 0.00004
NM_003482.4(KMT2D):c.12712C>T (p.Arg4238Cys) rs398123714 0.00004
NM_003482.4(KMT2D):c.1488G>A (p.Pro496=) rs534236560 0.00004
NM_003482.4(KMT2D):c.16522-4T>G rs779139301 0.00004
NM_003482.4(KMT2D):c.2368C>T (p.Pro790Ser) rs376911077 0.00004
NM_003482.4(KMT2D):c.5892G>A (p.Pro1964=) rs761930376 0.00004
NM_003482.4(KMT2D):c.7571C>T (p.Thr2524Met) rs760263014 0.00004
NM_003630.3(PEX3):c.818+3A>G rs975195178 0.00004
NM_003659.4(AGPS):c.1335C>T (p.Asp445=) rs200039061 0.00004
NM_003673.4(TCAP):c.447C>T (p.Pro149=) rs45614332 0.00004
NM_003742.4(ABCB11):c.2908C>T (p.Pro970Ser) rs779096015 0.00004
NM_003742.4(ABCB11):c.711G>A (p.Arg237=) rs765070028 0.00004
NM_003839.4(TNFRSF11A):c.1515G>A (p.Ala505=) rs374310569 0.00004
NM_004006.3(DMD):c.10128A>G (p.Leu3376=) rs755438733 0.00004
NM_004006.3(DMD):c.1159A>G (p.Met387Val) rs770202940 0.00004
NM_004006.3(DMD):c.1518G>T (p.Arg506Ser) rs755456119 0.00004
NM_004006.3(DMD):c.1603-6C>T rs774626474 0.00004
NM_004006.3(DMD):c.1848C>A (p.Ser616=) rs376024929 0.00004
NM_004006.3(DMD):c.2117C>A (p.Pro706Gln) rs781015830 0.00004
NM_004006.3(DMD):c.3217G>A (p.Glu1073Lys) rs398123931 0.00004
NM_004006.3(DMD):c.3814T>C (p.Leu1272=) rs746405191 0.00004
NM_004006.3(DMD):c.5464G>A (p.Gly1822Ser) rs766746479 0.00004
NM_004006.3(DMD):c.5827A>G (p.Met1943Val) rs181849614 0.00004
NM_004006.3(DMD):c.618A>G (p.Gln206=) rs727503865 0.00004
NM_004006.3(DMD):c.7130C>T (p.Pro2377Leu) rs201262489 0.00004
NM_004006.3(DMD):c.8226A>G (p.Gln2742=) rs746514008 0.00004
NM_004006.3(DMD):c.8643A>G (p.Leu2881=) rs747605156 0.00004
NM_004006.3(DMD):c.9091G>A (p.Val3031Ile) rs143426249 0.00004
NM_004006.3(DMD):c.9198G>A (p.Ser3066=) rs753594128 0.00004
NM_004006.3(DMD):c.9987A>G (p.Leu3329=) rs145595228 0.00004
NM_004369.4(COL6A3):c.285G>A (p.Thr95=) rs373435541 0.00004
NM_004369.4(COL6A3):c.4848C>T (p.Ser1616=) rs200948078 0.00004
NM_004369.4(COL6A3):c.6312C>T (p.Gly2104=) rs377074792 0.00004
NM_004369.4(COL6A3):c.7551C>T (p.Asn2517=) rs570963533 0.00004
NM_004380.3(CREBBP):c.1275T>C (p.His425=) rs758886547 0.00004
NM_004380.3(CREBBP):c.2112A>G (p.Pro704=) rs398124142 0.00004
NM_004380.3(CREBBP):c.711C>T (p.Ser237=) rs146049063 0.00004
NM_004393.6(DAG1):c.222C>T (p.Val74=) rs150727558 0.00004
NM_004463.3(FGD1):c.2786C>T (p.Pro929Leu) rs727503925 0.00004
NM_004482.4(GALNT3):c.1392+7T>G rs779970449 0.00004
NM_004560.4(ROR2):c.1054A>G (p.Ser352Gly) rs569242465 0.00004
NM_004565.3(PEX14):c.-7C>T rs774075581 0.00004
NM_004656.4(BAP1):c.1227G>C (p.Val409=) rs201203425 0.00004
NM_004817.4(TJP2):c.1629G>A (p.Ser543=) rs771239031 0.00004
NM_004817.4(TJP2):c.3183T>G (p.Gly1061=) rs749387422 0.00004
NM_004817.4(TJP2):c.848G>A (p.Arg283Gln) rs748102718 0.00004
NM_004820.5(CYP7B1):c.171A>T (p.Gly57=) rs372135575 0.00004
NM_005249.5(FOXG1):c.1045T>G (p.Ser349Ala) rs796052472 0.00004
NM_005422.4(TECTA):c.1685C>T (p.Thr562Met) rs779401654 0.00004
NM_005476.7(GNE):c.1908G>A (p.Ala636=) rs200812140 0.00004
NM_005477.3(HCN4):c.2197G>A (p.Val733Ile) rs376631391 0.00004
NM_005477.3(HCN4):c.2864C>T (p.Pro955Leu) rs371562763 0.00004
NM_005529.7(HSPG2):c.11046C>T (p.Ala3682=) rs149466423 0.00004
NM_005529.7(HSPG2):c.5115C>G (p.Pro1705=) rs370558075 0.00004
NM_005989.4(AKR1D1):c.60C>T (p.Ile20=) rs756630815 0.00004
NM_005989.4(AKR1D1):c.723T>C (p.Asp241=) rs200829661 0.00004
NM_006005.3(WFS1):c.1743C>T (p.Gly581=) rs377539343 0.00004
NM_006005.3(WFS1):c.1801G>A (p.Val601Met) rs147838635 0.00004
NM_006005.3(WFS1):c.498C>G (p.Leu166=) rs758731318 0.00004
NM_006019.4(TCIRG1):c.1710G>A (p.Thr570=) rs199696448 0.00004
NM_006031.6(PCNT):c.1246A>G (p.Ile416Val) rs368199588 0.00004
NM_006031.6(PCNT):c.1281C>T (p.His427=) rs142413458 0.00004
NM_006279.5(ST3GAL3):c.660C>T (p.Tyr220=) rs201204481 0.00004
NM_006445.4(PRPF8):c.3045C>T (p.Val1015=) rs770535800 0.00004
NM_006516.4(SLC2A1):c.179C>T (p.Thr60Met) rs142986731 0.00004
NM_006516.4(SLC2A1):c.321C>T (p.Ala107=) rs398124230 0.00004
NM_006662.3(SRCAP):c.5610C>T (p.Pro1870=) rs141985098 0.00004
NM_006946.4(SPTBN2):c.3112G>A (p.Ala1038Thr) rs549918589 0.00004
NM_007126.5(VCP):c.1242G>A (p.Leu414=) rs375262833 0.00004
NM_007294.4(BRCA1):c.425C>A (p.Pro142His) rs55971303 0.00004
NM_007294.4(BRCA1):c.4261C>T (p.His1421Tyr) rs80357013 0.00004
NM_012210.4(TRIM32):c.201T>C (p.Ile67=) rs780799984 0.00004
NM_012210.4(TRIM32):c.339G>C (p.Arg113=) rs150477945 0.00004
NM_012210.4(TRIM32):c.501G>A (p.Lys167=) rs200085883 0.00004
NM_012254.3(SLC27A5):c.225C>T (p.Leu75=) rs372436444 0.00004
NM_012301.4(MAGI2):c.1530C>T (p.Tyr510=) rs201057526 0.00004
NM_014000.3(VCL):c.2652G>A (p.Glu884=) rs371187988 0.00004
NM_014014.5(SNRNP200):c.4728C>T (p.Ile1576=) rs377641548 0.00004
NM_014324.6(AMACR):c.1011C>T (p.Ile337=) rs779290495 0.00004
NM_014425.5(INVS):c.1107T>C (p.His369=) rs760637052 0.00004
NM_014639.4(SKIC3):c.3710C>T (p.Ala1237Val) rs557540994 0.00004
NM_014714.4(IFT140):c.3210G>A (p.Ala1070=) rs372233286 0.00004
NM_014780.5(CUL7):c.156C>T (p.Asp52=) rs368209176 0.00004
NM_014795.4(ZEB2):c.374C>T (p.Thr125Met) rs727504227 0.00004
NM_015102.5(NPHP4):c.1653C>T (p.Ala551=) rs751732786 0.00004
NM_015102.5(NPHP4):c.267C>T (p.Ile89=) rs372171438 0.00004
NM_015295.3(SMCHD1):c.288C>T (p.Thr96=) rs369550628 0.00004
NM_015311.3(OBSL1):c.4122C>T (p.Gly1374=) rs374001837 0.00004
NM_015404.4(WHRN):c.1417-8G>A rs202228471 0.00004
NM_016239.4(MYO15A):c.5193C>T (p.Phe1731=) rs767426819 0.00004
NM_016356.5(DCDC2):c.1199G>A (p.Arg400His) rs771591530 0.00004
NM_017739.4(POMGNT1):c.1476C>A (p.Ile492=) rs375432782 0.00004
NM_017777.4(MKS1):c.1273+6C>T rs371480628 0.00004
NM_017777.4(MKS1):c.1274-4G>A rs377033778 0.00004
NM_017780.4(CHD7):c.1170T>C (p.Tyr390=) rs554737227 0.00004
NM_018006.5(TRMU):c.1218C>T (p.Ser406=) rs754239335 0.00004
NM_018006.5(TRMU):c.30C>T (p.Ala10=) rs776692221 0.00004
NM_018006.5(TRMU):c.429C>T (p.His143=) rs746421213 0.00004
NM_018136.5(ASPM):c.3726A>G (p.Thr1242=) rs376539395 0.00004
NM_018418.5(SPATA7):c.1446C>T (p.Asn482=) rs766017194 0.00004
NM_020223.4(FAM20C):c.795G>A (p.Ser265=) rs766106805 0.00004
NM_020631.6(PLEKHG5):c.753C>T (p.Ser251=) rs556687525 0.00004
NM_020754.4(ARHGAP31):c.3255C>T (p.Pro1085=) rs372301689 0.00004
NM_020754.4(ARHGAP31):c.3461C>T (p.Pro1154Leu) rs772715426 0.00004
NM_021939.4(FKBP10):c.315C>T (p.Gly105=) rs373064272 0.00004
NM_022081.6(HPS4):c.13A>G (p.Thr5Ala) rs570371168 0.00004
NM_022124.6(CDH23):c.1719C>T (p.Asn573=) rs761913744 0.00004
NM_022124.6(CDH23):c.6098C>T (p.Ser2033Leu) rs537971045 0.00004
NM_022436.3(ABCG5):c.1398C>T (p.Ala466=) rs373514009 0.00004
NM_022436.3(ABCG5):c.1570G>A (p.Val524Ile) rs200839584 0.00004
NM_022436.3(ABCG5):c.915G>A (p.Thr305=) rs773296588 0.00004
NM_022437.3(ABCG8):c.15G>A (p.Ala5=) rs200951677 0.00004
NM_022437.3(ABCG8):c.331A>C (p.Arg111=) rs752358589 0.00004
NM_022437.3(ABCG8):c.369C>T (p.His123=) rs139859350 0.00004
NM_024009.3(GJB3):c.499G>A (p.Val167Met) rs376748531 0.00004
NM_024408.4(NOTCH2):c.4740G>A (p.Lys1580=) rs367699419 0.00004
NM_024408.4(NOTCH2):c.5958T>C (p.Ala1986=) rs563486507 0.00004
NM_024408.4(NOTCH2):c.7263T>A (p.Ser2421=) rs369912969 0.00004
NM_024422.6(DSC2):c.2335G>A (p.Gly779Arg) rs139290300 0.00004
NM_024649.5(BBS1):c.48-9C>A rs765571574 0.00004
NM_024757.5(EHMT1):c.3401G>A (p.Arg1134Gln) rs373174786 0.00004
NM_024757.5(EHMT1):c.529G>C (p.Ala177Pro) rs182595609 0.00004
NM_025074.7(FRAS1):c.9450G>T (p.Val3150=) rs372168929 0.00004
NM_030665.4(RAI1):c.2220C>T (p.Ser740=) rs149807469 0.00004
NM_030665.4(RAI1):c.3143C>A (p.Ala1048Asp) rs758990336 0.00004
NM_032119.4(ADGRV1):c.12464C>T (p.Pro4155Leu) rs765063091 0.00004
NM_032119.4(ADGRV1):c.12682A>G (p.Ile4228Val) rs532836800 0.00004
NM_032119.4(ADGRV1):c.15145G>A (p.Ala5049Thr) rs376376418 0.00004
NM_032119.4(ADGRV1):c.17388G>A (p.Gln5796=) rs183208875 0.00004
NM_032119.4(ADGRV1):c.1801G>T (p.Asp601Tyr) rs375085032 0.00004
NM_032119.4(ADGRV1):c.3819G>A (p.Arg1273=) rs764738838 0.00004
NM_032119.4(ADGRV1):c.4714A>G (p.Asn1572Asp) rs370432538 0.00004
NM_032119.4(ADGRV1):c.5537T>C (p.Val1846Ala) rs756062421 0.00004
NM_032273.4(TMEM126A):c.531A>G (p.Gln177=) rs369467944 0.00004
NM_033337.3(CAV3):c.201C>A (p.Val67=) rs201593267 0.00004
NM_033337.3(CAV3):c.384C>T (p.Phe128=) rs773934743 0.00004
NM_033360.4(KRAS):c.93A>G (p.Glu31=) rs377354475 0.00004
NM_057176.3(BSND):c.744G>A (p.Thr248=) rs754819005 0.00004
NM_058246.4(DNAJB6):c.276A>G (p.Thr92=) rs765815570 0.00004
NM_080680.3(COL11A2):c.12C>T (p.Cys4=) rs914781832 0.00004
NM_080680.3(COL11A2):c.2841C>T (p.Pro947=) rs565891154 0.00004
NM_080680.3(COL11A2):c.4676G>A (p.Arg1559Gln) rs774845879 0.00004
NM_130837.3(OPA1):c.2520+13A>G rs371943802 0.00004
NM_130839.5(UBE3A):c.1728G>A (p.Val576=) rs749731066 0.00004
NM_133379.5(TTN):c.14526T>A (p.Asn4842Lys) rs776361113 0.00004
NM_133433.4(NIPBL):c.1988A>C (p.Gln663Pro) rs149892167 0.00004
NM_138694.4(PKHD1):c.2280-10C>T rs749295454 0.00004
NM_138694.4(PKHD1):c.624T>C (p.His208=) rs767511678 0.00004
NM_144672.4(OTOA):c.462C>T (p.Gly154=) rs767974412 0.00004
NM_145200.5(CABP4):c.531C>A (p.Ile177=) rs754194692 0.00004
NM_145239.3(PRRT2):c.224C>T (p.Pro75Leu) rs147004110 0.00004
NM_145239.3(PRRT2):c.352G>A (p.Ala118Thr) rs201636905 0.00004
NM_152564.5(VPS13B):c.2825-4T>A rs201354177 0.00004
NM_152564.5(VPS13B):c.4950-9A>G rs373474658 0.00004
NM_153240.5(NPHP3):c.1083T>C (p.Ser361=) rs781244729 0.00004
NM_153252.5(BRWD3):c.4309G>A (p.Ala1437Thr) rs767555361 0.00004
NM_153717.3(EVC):c.2305-6C>T rs781705295 0.00004
NM_170699.3(GPBAR1):c.528C>T (p.Pro176=) rs202154681 0.00004
NM_170707.4(LMNA):c.1376A>G (p.Asn459Ser) rs372011095 0.00004
NM_170707.4(LMNA):c.726G>A (p.Ala242=) rs763625309 0.00004
NM_182914.3(SYNE2):c.9430C>T (p.Leu3144Phe) rs886044254 0.00004
NM_182961.4(SYNE1):c.10257T>C (p.His3419=) rs147631683 0.00004
NM_182961.4(SYNE1):c.1125C>T (p.Asp375=) rs569973824 0.00004
NM_182961.4(SYNE1):c.1497C>T (p.His499=) rs758555741 0.00004
NM_182961.4(SYNE1):c.16278G>A (p.Thr5426=) rs779112403 0.00004
NM_182961.4(SYNE1):c.18090C>T (p.Ser6030=) rs146238726 0.00004
NM_182961.4(SYNE1):c.19188C>T (p.Asp6396=) rs369626489 0.00004
NM_182961.4(SYNE1):c.26355C>T (p.His8785=) rs771334693 0.00004
NM_182961.4(SYNE1):c.462C>T (p.Ser154=) rs761939786 0.00004
NM_182961.4(SYNE1):c.4992A>G (p.Leu1664=) rs187410988 0.00004
NM_198506.5(LRIT3):c.1467C>T (p.Asn489=) rs369821286 0.00004
NM_198999.3(SLC26A5):c.1828G>A (p.Glu610Lys) rs148538056 0.00004
NM_201384.3(PLEC):c.11421C>T (p.Gly3807=) rs782144786 0.00004
NM_201384.3(PLEC):c.13596C>T (p.Ala4532=) rs781917029 0.00004
NM_201384.3(PLEC):c.2580G>A (p.Pro860=) rs782468518 0.00004
NM_201384.3(PLEC):c.4137C>T (p.His1379=) rs782222813 0.00004
NM_201384.3(PLEC):c.6312G>A (p.Ala2104=) rs782048792 0.00004
NM_201384.3(PLEC):c.6343G>A (p.Glu2115Lys) rs782713908 0.00004
NM_201384.3(PLEC):c.6642G>A (p.Ala2214=) rs559736151 0.00004
NM_201384.3(PLEC):c.7667G>A (p.Arg2556Gln) rs782640329 0.00004
NM_201384.3(PLEC):c.8577C>T (p.His2859=) rs200012425 0.00004
NM_206933.4(USH2A):c.8856C>T (p.Asp2952=) rs149306655 0.00004
NM_207352.4(CYP4V2):c.1479C>T (p.Asn493=) rs374270799 0.00004
NC_000002.12:g.178605717T>C rs772324772 0.00003
NM_000051.4(ATM):c.6234C>T (p.Ser2078=) rs569483748 0.00003
NM_000051.4(ATM):c.6465G>A (p.Val2155=) rs140423883 0.00003
NM_000059.4(BRCA2):c.10154G>A (p.Arg3385His) rs80358398 0.00003
NM_000059.4(BRCA2):c.2944A>C (p.Ile982Leu) rs28897717 0.00003
NM_000071.3(CBS):c.435G>A (p.Pro145=) rs148782895 0.00003
NM_000082.4(ERCC8):c.510T>C (p.Leu170=) rs886042104 0.00003
NM_000088.4(COL1A1):c.3258C>T (p.Pro1086=) rs200319927 0.00003
NM_000090.4(COL3A1):c.2550T>C (p.Pro850=) rs794727586 0.00003
NM_000092.5(COL4A4):c.90C>T (p.Leu30=) rs747805491 0.00003
NM_000093.5(COL5A1):c.3428C>T (p.Pro1143Leu) rs540131206 0.00003
NM_000113.3(TOR1A):c.990C>T (p.Tyr330=) rs148849547 0.00003
NM_000117.3(EMD):c.243C>T (p.Asp81=) rs150757295 0.00003
NM_000138.5(FBN1):c.139G>A (p.Gly47Ser) rs762400500 0.00003
NM_000138.5(FBN1):c.2930T>G (p.Met977Arg) rs199682686 0.00003
NM_000138.5(FBN1):c.6189G>A (p.Ala2063=) rs375624881 0.00003
NM_000142.5(FGFR3):c.1002C>T (p.Ala334=) rs376787929 0.00003
NM_000142.5(FGFR3):c.1596C>T (p.Ile532=) rs528979086 0.00003
NM_000152.5(GAA):c.2132C>G (p.Thr711Arg) rs759292700 0.00003
NM_000152.5(GAA):c.2739C>G (p.Pro913=) rs370765733 0.00003
NM_000214.3(JAG1):c.2304C>T (p.Cys768=) rs755427292 0.00003
NM_000235.4(LIPA):c.1077G>A (p.Gln359=) rs538507117 0.00003
NM_000235.4(LIPA):c.846A>G (p.Thr282=) rs534838107 0.00003
NM_000238.4(KCNH2):c.1067G>A (p.Arg356His) rs730880118 0.00003
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000316.3(PTH1R):c.1728T>C (p.Ser576=) rs201013164 0.00003
NM_000330.4(RS1):c.234G>A (p.Pro78=) rs183092299 0.00003
NM_000362.5(TIMP3):c.459G>A (p.Leu153=) rs757458960 0.00003
NM_000370.3(TTPA):c.553-6C>T rs761911043 0.00003
NM_000372.5(TYR):c.759A>T (p.Gly253=) rs200936835 0.00003
NM_000392.5(ABCC2):c.3927C>T (p.Tyr1309=) rs4148401 0.00003
NM_000443.4(ABCB4):c.2295T>C (p.Ser765=) rs371013005 0.00003
NM_000443.4(ABCB4):c.3471C>T (p.Ile1157=) rs752578370 0.00003
NM_000443.4(ABCB4):c.525G>A (p.Thr175=) rs558416191 0.00003
NM_000443.4(ABCB4):c.717G>A (p.Ser239=) rs770169131 0.00003
NM_000460.4(THPO):c.183G>T (p.Leu61=) rs200666378 0.00003
NM_000478.6(ALPL):c.1479C>T (p.Asn493=) rs759758484 0.00003
NM_000492.4(CFTR):c.2736G>A (p.Ser912=) rs200901072 0.00003
NM_000492.4(CFTR):c.489+8T>G rs727504712 0.00003
NM_000516.7(GNAS):c.102G>A (p.Lys34=) rs1177100316 0.00003
NM_000531.6(OTC):c.808C>G (p.Gln270Glu) rs72558451 0.00003
NM_000540.3(RYR1):c.13369A>T (p.Met4457Leu) rs867851900 0.00003
NM_000540.3(RYR1):c.9624G>T (p.Pro3208=) rs552470353 0.00003
NM_000543.5(SMPD1):c.1587G>A (p.Pro529=) rs140770832 0.00003
NM_000548.5(TSC2):c.1600-9T>C rs886043268 0.00003
NM_000548.5(TSC2):c.4746C>T (p.Ile1582=) rs751305758 0.00003
NM_000548.5(TSC2):c.493C>T (p.Leu165=) rs758521946 0.00003
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591 0.00003
NM_000601.6(HGF):c.2019T>C (p.Tyr673=) rs367800414 0.00003
NM_000709.4(BCKDHA):c.1080C>T (p.Pro360=) rs373390136 0.00003
NM_000719.7(CACNA1C):c.2396C>A (p.Ser799Tyr) rs398123519 0.00003
NM_000719.7(CACNA1C):c.3531C>T (p.Tyr1177=) rs754527651 0.00003
NM_000719.7(CACNA1C):c.50-3C>T rs780161540 0.00003
NM_000719.7(CACNA1C):c.5307C>T (p.Asn1769=) rs530924728 0.00003
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg) rs374528680 0.00003
NM_000784.4(CYP27A1):c.315C>T (p.His105=) rs753981913 0.00003
NM_000784.4(CYP27A1):c.624C>T (p.Leu208=) rs200060245 0.00003
NM_000875.5(IGF1R):c.1485C>T (p.Phe495=) rs886043360 0.00003
NM_000875.5(IGF1R):c.1680G>A (p.Lys560=) rs754035007 0.00003
NM_000875.5(IGF1R):c.189C>T (p.Leu63=) rs149417802 0.00003
NM_000875.5(IGF1R):c.2745G>A (p.Ser915=) rs757589571 0.00003
NM_001025295.3(IFITM5):c.8C>T (p.Thr3Met) rs376963969 0.00003
NM_001032382.2(PQBP1):c.492G>T (p.Gly164=) rs375706327 0.00003
NM_001034850.3(RETREG1):c.750G>T (p.Leu250=) rs767329180 0.00003
NM_001035.3(RYR2):c.12027C>T (p.Asn4009=) rs763374929 0.00003
NM_001042413.2(GLIS3):c.609G>A (p.Ser203=) rs148306701 0.00003
NM_001042432.2(CLN3):c.1198-5C>T rs764999720 0.00003
NM_001048166.1(STIL):c.892A>G (p.Asn298Asp) rs770213403 0.00003
NM_001077365.2(POMT1):c.1698+6C>T rs180847856 0.00003
NM_001079802.2(FKTN):c.393G>A (p.Glu131=) rs1472560195 0.00003
NM_001079802.2(FKTN):c.402A>T (p.Gly134=) rs780921233 0.00003
NM_001079802.2(FKTN):c.911-8C>A rs749557617 0.00003
NM_001101426.4(CRPPA):c.789+9G>A rs375132134 0.00003
NM_001110556.2(FLNA):c.1242C>T (p.Gly414=) rs782598234 0.00003
NM_001110556.2(FLNA):c.4106C>T (p.Thr1369Ile) rs376774130 0.00003
NM_001110556.2(FLNA):c.6108G>A (p.Pro2036=) rs782221205 0.00003
NM_001110792.2(MECP2):c.1477G>A (p.Val493Met) rs193922678 0.00003
NM_001126121.2(SLC25A19):c.564C>T (p.Tyr188=) rs145654111 0.00003
NM_001128178.3(NPHP1):c.330-4G>A rs774162169 0.00003
NM_001130438.3(SPTAN1):c.7395C>T (p.Phe2465=) rs752878085 0.00003
NM_001130987.2(DYSF):c.1449+7C>T rs199608017 0.00003
NM_001130987.2(DYSF):c.2205C>T (p.Ile735=) rs754177085 0.00003
NM_001130987.2(DYSF):c.760-8G>C rs748159785 0.00003
NM_001142800.2(EYS):c.5645-8C>T rs886044616 0.00003
NM_001145358.2(SIN3A):c.618C>A (p.Gly206=) rs372626992 0.00003
NM_001145809.2(MYH14):c.3884G>A (p.Arg1295Gln) rs377014092 0.00003
NM_001161352.2(KCNMA1):c.1680C>A (p.Ala560=) rs2229008 0.00003
NM_001164508.2(NEB):c.18786C>T (p.Tyr6262=) rs374874999 0.00003
NM_001165963.4(SCN1A):c.144C>T (p.Gly48=) rs886043534 0.00003
NM_001165963.4(SCN1A):c.3585T>C (p.Asn1195=) rs138181528 0.00003
NM_001170629.2(CHD8):c.5346A>G (p.Ala1782=) rs766317271 0.00003
NM_001177316.2(SLC34A3):c.978C>T (p.Ile326=) rs886044633 0.00003
NM_001182.5(ALDH7A1):c.1176T>C (p.Gly392=) rs935431600 0.00003
NM_001193315.2(VIPAS39):c.1089+8C>G rs371371767 0.00003
NM_001193315.2(VIPAS39):c.15G>A (p.Lys5=) rs768593671 0.00003
NM_001193315.2(VIPAS39):c.246C>T (p.His82=) rs569525220 0.00003
NM_001206979.2(NR1H4):c.1079-8C>T rs764238006 0.00003
NM_001256317.3(TMPRSS3):c.1266C>T (p.Ile422=) rs372469227 0.00003
NM_001267550.2(TTN):c.100116C>T (p.Phe33372=) rs770089807 0.00003
NM_001267550.2(TTN):c.100295G>A (p.Arg33432His) rs374876608 0.00003
NM_001267550.2(TTN):c.100534A>T (p.Asn33512Tyr) rs778965506 0.00003
NM_001267550.2(TTN):c.102024A>G (p.Leu34008=) rs727504677 0.00003
NM_001267550.2(TTN):c.103580T>C (p.Ile34527Thr) rs370618537 0.00003
NM_001267550.2(TTN):c.105182C>T (p.Ala35061Val) rs762136167 0.00003
NM_001267550.2(TTN):c.105374C>T (p.Thr35125Met) rs747161494 0.00003
NM_001267550.2(TTN):c.106827T>G (p.Ile35609Met) rs727504540 0.00003
NM_001267550.2(TTN):c.107450C>T (p.Ser35817Leu) rs766440492 0.00003
NM_001267550.2(TTN):c.107591T>C (p.Val35864Ala) rs374859388 0.00003
NM_001267550.2(TTN):c.107647T>G (p.Ser35883Ala) rs1553477432 0.00003
NM_001267550.2(TTN):c.12564C>A (p.Ala4188=) rs547338168 0.00003
NM_001267550.2(TTN):c.1288G>A (p.Val430Ile) rs371639583 0.00003
NM_001267550.2(TTN):c.14588G>A (p.Gly4863Glu) rs375680312 0.00003
NM_001267550.2(TTN):c.15634G>A (p.Gly5212Arg) rs377754692 0.00003
NM_001267550.2(TTN):c.16126C>A (p.Leu5376Met) rs72648936 0.00003
NM_001267550.2(TTN):c.17228G>A (p.Arg5743Gln) rs753892271 0.00003
NM_001267550.2(TTN):c.19728C>T (p.Phe6576=) rs751902051 0.00003
NM_001267550.2(TTN):c.2022A>C (p.Arg674Ser) rs180694107 0.00003
NM_001267550.2(TTN):c.24621C>T (p.Asp8207=) rs751733811 0.00003
NM_001267550.2(TTN):c.2605A>T (p.Thr869Ser) rs370962244 0.00003
NM_001267550.2(TTN):c.2650G>A (p.Ala884Thr) rs772195446 0.00003
NM_001267550.2(TTN):c.27350G>C (p.Arg9117Thr) rs375907742 0.00003
NM_001267550.2(TTN):c.28127C>G (p.Thr9376Arg) rs749875409 0.00003
NM_001267550.2(TTN):c.28262C>T (p.Thr9421Met) rs375209383 0.00003
NM_001267550.2(TTN):c.2998C>T (p.Leu1000Phe) rs140953779 0.00003
NM_001267550.2(TTN):c.30088C>T (p.Pro10030Ser) rs368531555 0.00003
NM_001267550.2(TTN):c.34675A>G (p.Ile11559Val) rs752903377 0.00003
NM_001267550.2(TTN):c.35083G>A (p.Glu11695Lys) rs376117402 0.00003
NM_001267550.2(TTN):c.35249T>C (p.Ile11750Thr) rs398124447 0.00003
NM_001267550.2(TTN):c.35268G>A (p.Pro11756=) rs778338717 0.00003
NM_001267550.2(TTN):c.3913G>T (p.Gly1305Trp) rs199889888 0.00003
NM_001267550.2(TTN):c.41406C>T (p.Cys13802=) rs749356221 0.00003
NM_001267550.2(TTN):c.41703T>C (p.Thr13901=) rs756282138 0.00003
NM_001267550.2(TTN):c.44987G>A (p.Arg14996His) rs762128685 0.00003
NM_001267550.2(TTN):c.46221C>T (p.Asp15407=) rs370808856 0.00003
NM_001267550.2(TTN):c.4650G>A (p.Val1550=) rs915170239 0.00003
NM_001267550.2(TTN):c.46823T>C (p.Leu15608Ser) rs397517588 0.00003
NM_001267550.2(TTN):c.46847C>T (p.Thr15616Met) rs368057764 0.00003
NM_001267550.2(TTN):c.47516T>C (p.Ile15839Thr) rs764388462 0.00003
NM_001267550.2(TTN):c.49395C>T (p.Asp16465=) rs749308557 0.00003
NM_001267550.2(TTN):c.49527A>G (p.Thr16509=) rs727505248 0.00003
NM_001267550.2(TTN):c.50077G>A (p.Val16693Ile) rs377141765 0.00003
NM_001267550.2(TTN):c.52006G>A (p.Val17336Ile) rs567781604 0.00003
NM_001267550.2(TTN):c.52242C>T (p.Pro17414=) rs765216874 0.00003
NM_001267550.2(TTN):c.53881+4C>T rs187632918 0.00003
NM_001267550.2(TTN):c.53926A>G (p.Ile17976Val) rs371424482 0.00003
NM_001267550.2(TTN):c.54054G>A (p.Lys18018=) rs761146363 0.00003
NM_001267550.2(TTN):c.55692T>A (p.Pro18564=) rs200864020 0.00003
NM_001267550.2(TTN):c.56403A>G (p.Gln18801=) rs553313488 0.00003
NM_001267550.2(TTN):c.56960T>C (p.Ile18987Thr) rs373351577 0.00003
NM_001267550.2(TTN):c.5698G>A (p.Val1900Met) rs750823043 0.00003
NM_001267550.2(TTN):c.5741C>T (p.Ala1914Val) rs374203813 0.00003
NM_001267550.2(TTN):c.57777G>A (p.Ala19259=) rs376930907 0.00003
NM_001267550.2(TTN):c.58613C>A (p.Thr19538Lys) rs370686112 0.00003
NM_001267550.2(TTN):c.60008G>A (p.Arg20003His) rs756091180 0.00003
NM_001267550.2(TTN):c.62030T>C (p.Ile20677Thr) rs558670891 0.00003
NM_001267550.2(TTN):c.62468G>A (p.Arg20823His) rs758019778 0.00003
NM_001267550.2(TTN):c.62901T>C (p.Pro20967=) rs1245531460 0.00003
NM_001267550.2(TTN):c.66057A>G (p.Lys22019=) rs372989710 0.00003
NM_001267550.2(TTN):c.66288A>G (p.Glu22096=) rs368297582 0.00003
NM_001267550.2(TTN):c.66372C>T (p.Thr22124=) rs756981729 0.00003
NM_001267550.2(TTN):c.66650T>G (p.Phe22217Cys) rs764330098 0.00003
NM_001267550.2(TTN):c.6820C>G (p.Gln2274Glu) rs145649088 0.00003
NM_001267550.2(TTN):c.69044C>T (p.Ala23015Val) rs771710562 0.00003
NM_001267550.2(TTN):c.69957C>G (p.Ile23319Met) rs540840413 0.00003
NM_001267550.2(TTN):c.70983G>A (p.Pro23661=) rs568193318 0.00003
NM_001267550.2(TTN):c.72358C>T (p.Leu24120Phe) rs372309164 0.00003
NM_001267550.2(TTN):c.73765T>C (p.Tyr24589His) rs371821218 0.00003
NM_001267550.2(TTN):c.78993A>G (p.Arg26331=) rs745659756 0.00003
NM_001267550.2(TTN):c.80592A>G (p.Pro26864=) rs769223218 0.00003
NM_001267550.2(TTN):c.81250A>G (p.Ile27084Val) rs371498697 0.00003
NM_001267550.2(TTN):c.82732A>G (p.Lys27578Glu) rs368850871 0.00003
NM_001267550.2(TTN):c.83580G>A (p.Val27860=) rs200096597 0.00003
NM_001267550.2(TTN):c.84188G>A (p.Arg28063His) rs570847832 0.00003
NM_001267550.2(TTN):c.85389C>T (p.Leu28463=) rs144731702 0.00003
NM_001267550.2(TTN):c.86003T>C (p.Ile28668Thr) rs374022393 0.00003
NM_001267550.2(TTN):c.89295T>C (p.Ala29765=) rs375374658 0.00003
NM_001267550.2(TTN):c.89313C>T (p.Val29771=) rs746897918 0.00003
NM_001267550.2(TTN):c.89906T>C (p.Val29969Ala) rs201220828 0.00003
NM_001267550.2(TTN):c.89984T>C (p.Ile29995Thr) rs754676727 0.00003
NM_001267550.2(TTN):c.90198T>G (p.Val30066=) rs761842174 0.00003
NM_001267550.2(TTN):c.9050G>A (p.Arg3017Lys) rs372303620 0.00003
NM_001267550.2(TTN):c.90748G>A (p.Glu30250Lys) rs200651247 0.00003
NM_001267550.2(TTN):c.92895C>T (p.Asn30965=) rs1379558944 0.00003
NM_001267550.2(TTN):c.94348C>T (p.Arg31450Cys) rs541040798 0.00003
NM_001267550.2(TTN):c.94590A>G (p.Pro31530=) rs558347312 0.00003
NM_001267550.2(TTN):c.96921T>C (p.Asp32307=) rs771385738 0.00003
NM_001267550.2(TTN):c.97442G>A (p.Gly32481Glu) rs201364164 0.00003
NM_001267550.2(TTN):c.97481G>A (p.Arg32494His) rs371645048 0.00003
NM_001267550.2(TTN):c.98098+3G>A rs556524594 0.00003
NM_001267550.2(TTN):c.99536T>C (p.Val33179Ala) rs576759867 0.00003
NM_001267550.2(TTN):c.99840T>C (p.Asp33280=) rs375178211 0.00003
NM_001278116.2(L1CAM):c.860G>A (p.Arg287His) rs200402620 0.00003
NM_001287.6(CLCN7):c.435C>T (p.Asp145=) rs201964194 0.00003
NM_001330260.2(SCN8A):c.491C>T (p.Thr164Met) rs775272996 0.00003
NM_001349338.3(FOXP1):c.1902C>T (p.His634=) rs749771909 0.00003
NM_001360.3(DHCR7):c.198C>T (p.Cys66=) rs775127532 0.00003
NM_001360.3(DHCR7):c.375C>T (p.Tyr125=) rs779401555 0.00003
NM_001365088.1(SLC12A6):c.230C>G (p.Pro77Arg) rs369793136 0.00003
NM_001365951.3(KIF1B):c.-5T>C rs200491456 0.00003
NM_001367624.2(ZNF469):c.11278G>A (p.Glu3760Lys) rs547014159 0.00003
NM_001374353.1(GLI2):c.2208G>A (p.Thr736=) rs372206751 0.00003
NM_001374385.1(ATP8B1):c.1071C>T (p.Ile357=) rs775490128 0.00003
NM_001374385.1(ATP8B1):c.2418+4C>T rs777913106 0.00003
NM_001377.3(DYNC2H1):c.7149G>A (p.Thr2383=) rs553516014 0.00003
NM_001378120.1(MBD5):c.3602C>T (p.Ser1201Leu) rs200985982 0.00003
NM_001378120.1(MBD5):c.4887G>A (p.Leu1629=) rs779662045 0.00003
NM_001378414.1(HDAC4):c.1458C>T (p.Val486=) rs139841625 0.00003
NM_001378615.1(CC2D2A):c.1116C>A (p.Ser372Arg) rs760839591 0.00003
NM_001384474.1(LOXHD1):c.6148A>G (p.Met2050Val) rs141749060 0.00003
NM_001386393.1(PANK2):c.744A>C (p.Ser248=) rs778370524 0.00003
NM_001457.4(FLNB):c.3826G>T (p.Ala1276Ser) rs199912711 0.00003
NM_001457.4(FLNB):c.6154C>T (p.Leu2052=) rs372726521 0.00003
NM_001458.5(FLNC):c.2130C>T (p.Asp710=) rs778781499 0.00003
NM_001458.5(FLNC):c.3243G>A (p.Ala1081=) rs534482249 0.00003
NM_001605.3(AARS1):c.1275T>C (p.Thr425=) rs750552137 0.00003
NM_001701.4(BAAT):c.165C>T (p.Phe55=) rs377631387 0.00003
NM_001844.5(COL2A1):c.2410-7C>T rs767041085 0.00003
NM_001844.5(COL2A1):c.4290G>A (p.Thr1430=) rs554488169 0.00003
NM_001844.5(COL2A1):c.798G>A (p.Arg266=) rs376753701 0.00003
NM_001845.6(COL4A1):c.3591C>T (p.Ala1197=) rs768381482 0.00003
NM_001848.3(COL6A1):c.1671C>T (p.Asp557=) rs770099663 0.00003
NM_001848.3(COL6A1):c.2148G>A (p.Pro716=) rs780032842 0.00003
NM_001848.3(COL6A1):c.2670G>A (p.Ser890=) rs527265374 0.00003
NM_001848.3(COL6A1):c.423C>T (p.Leu141=) rs373486149 0.00003
NM_001849.4(COL6A2):c.115+10G>T rs200797233 0.00003
NM_001849.4(COL6A2):c.162G>A (p.Ser54=) rs780123839 0.00003
NM_001849.4(COL6A2):c.1962C>T (p.Ser654=) rs150253422 0.00003
NM_001849.4(COL6A2):c.2361G>A (p.Thr787=) rs566966690 0.00003
NM_001849.4(COL6A2):c.612C>T (p.Ile204=) rs773143298 0.00003
NM_001853.4(COL9A3):c.1095G>A (p.Glu365=) rs776395616 0.00003
NM_001853.4(COL9A3):c.1548+7C>T rs373996629 0.00003
NM_001909.5(CTSD):c.972+10G>A rs531682785 0.00003
NM_001927.4(DES):c.229A>G (p.Thr77Ala) rs769034192 0.00003
NM_002206.3(ITGA7):c.2295C>T (p.Ile765=) rs181711509 0.00003
NM_002335.4(LRP5):c.4359C>T (p.Cys1453=) rs755205426 0.00003
NM_002485.5(NBN):c.1089C>T (p.Tyr363=) rs121908974 0.00003
NM_002693.3(POLG):c.1956C>T (p.Ile652=) rs757860628 0.00003
NM_002693.3(POLG):c.2019C>T (p.Ala673=) rs557179508 0.00003
NM_002693.3(POLG):c.3480C>T (p.Thr1160=) rs1057521589 0.00003
NM_003036.4(SKI):c.970-7A>G rs199634070 0.00003
NM_003049.4(SLC10A1):c.936T>G (p.Thr312=) rs201142538 0.00003
NM_003060.4(SLC22A5):c.451G>A (p.Val151Met) rs386134193 0.00003
NM_003322.6(TULP1):c.1323+9C>T rs769417336 0.00003
NM_003482.4(KMT2D):c.12039A>G (p.Gly4013=) rs567323882 0.00003
NM_003482.4(KMT2D):c.7035G>A (p.Leu2345=) rs398123756 0.00003
NM_003482.4(KMT2D):c.9474G>C (p.Gln3158His) rs770522446 0.00003
NM_003742.4(ABCB11):c.126C>T (p.Gly42=) rs138800291 0.00003
NM_003742.4(ABCB11):c.2037G>A (p.Ala679=) rs776223452 0.00003
NM_003742.4(ABCB11):c.2799G>T (p.Leu933=) rs1057164807 0.00003
NM_003742.4(ABCB11):c.3060G>A (p.Val1020=) rs368622067 0.00003
NM_003742.4(ABCB11):c.3411+10G>A rs188996270 0.00003
NM_003835.4(RGS9):c.1662C>T (p.Thr554=) rs200492363 0.00003
NM_003846.3(PEX11B):c.510T>G (p.Thr170=) rs782275834 0.00003
NM_004006.3(DMD):c.1014A>G (p.Glu338=) rs758035070 0.00003
NM_004006.3(DMD):c.10911G>A (p.Ser3637=) rs747939733 0.00003
NM_004006.3(DMD):c.2293-8T>C rs377050013 0.00003
NM_004006.3(DMD):c.3096C>G (p.Leu1032=) rs770148717 0.00003
NM_004006.3(DMD):c.3663A>G (p.Val1221=) rs750549006 0.00003
NM_004006.3(DMD):c.4049G>A (p.Arg1350His) rs750981128 0.00003
NM_004006.3(DMD):c.5530C>A (p.Arg1844=) rs1064325 0.00003
NM_004006.3(DMD):c.6614+7C>T rs180719577 0.00003
NM_004006.3(DMD):c.7449C>T (p.Thr2483=) rs766075840 0.00003
NM_004006.3(DMD):c.8218-5T>C rs183643245 0.00003
NM_004006.3(DMD):c.8958G>A (p.Ala2986=) rs755815057 0.00003
NM_004208.4(AIFM1):c.952G>A (p.Ala318Thr) rs773680831 0.00003
NM_004333.6(BRAF):c.138+17C>G rs756400234 0.00003
NM_004369.4(COL6A3):c.1293G>A (p.Pro431=) rs376912950 0.00003
NM_004369.4(COL6A3):c.1785C>T (p.Ile595=) rs114278376 0.00003
NM_004369.4(COL6A3):c.2343G>A (p.Ala781=) rs561804945 0.00003
NM_004369.4(COL6A3):c.438C>T (p.Ile146=) rs781449958 0.00003
NM_004369.4(COL6A3):c.5019C>T (p.Gly1673=) rs140516220 0.00003
NM_004369.4(COL6A3):c.6132G>T (p.Gly2044=) rs762950440 0.00003
NM_004369.4(COL6A3):c.9329-33C>T rs398124137 0.00003
NM_004380.3(CREBBP):c.423T>G (p.Ser141=) rs760605470 0.00003
NM_004380.3(CREBBP):c.6006G>T (p.Val2002=) rs768100377 0.00003
NM_004380.3(CREBBP):c.6678G>A (p.Ala2226=) rs750845399 0.00003
NM_004447.6(EPS8):c.1230A>C (p.Gly410=) rs184886917 0.00003
NM_004560.4(ROR2):c.2080T>C (p.Cys694Arg) rs142386992 0.00003
NM_004560.4(ROR2):c.51C>A (p.Ala17=) rs886043361 0.00003
NM_004565.3(PEX14):c.330C>T (p.Gly110=) rs772527603 0.00003
NM_004565.3(PEX14):c.807C>T (p.Asn269=) rs757658916 0.00003
NM_004565.3(PEX14):c.824C>T (p.Ser275Leu) rs727504081 0.00003
NM_004606.5(TAF1):c.4948T>C (p.Leu1650=) rs779320845 0.00003
NM_004608.4(TBX6):c.298C>T (p.Leu100=) rs759383268 0.00003
NM_004744.5(LRAT):c.300C>T (p.Gly100=) rs770608706 0.00003
NM_004817.4(TJP2):c.2457A>G (p.Gln819=) rs988720358 0.00003
NM_004817.4(TJP2):c.3405G>A (p.Thr1135=) rs771190188 0.00003
NM_005199.5(CHRNG):c.330G>A (p.Pro110=) rs149931943 0.00003
NM_005422.4(TECTA):c.3493G>A (p.Val1165Met) rs373132598 0.00003
NM_006019.4(TCIRG1):c.1583G>C (p.Ser528Thr) rs555362865 0.00003
NM_006204.4(PDE6C):c.1266C>T (p.Thr422=) rs530593118 0.00003
NM_006204.4(PDE6C):c.205G>A (p.Val69Met) rs568930062 0.00003
NM_006432.5(NPC2):c.264T>C (p.Pro88=) rs1011669605 0.00003
NM_006516.4(SLC2A1):c.652C>T (p.Arg218Cys) rs147249343 0.00003
NM_006662.3(SRCAP):c.1545A>G (p.Glu515=) rs770648545 0.00003
NM_006662.3(SRCAP):c.9633C>T (p.Ser3211=) rs78465857 0.00003
NM_006899.5(IDH3B):c.1072-4G>A rs556473702 0.00003
NM_006899.5(IDH3B):c.981G>A (p.Leu327=) rs776399707 0.00003
NM_006922.4(SCN3A):c.1608C>T (p.Ser536=) rs376381280 0.00003
NM_006922.4(SCN3A):c.3177A>G (p.Lys1059=) rs370141420 0.00003
NM_006922.4(SCN3A):c.3744C>G (p.Thr1248=) rs761584493 0.00003
NM_007126.5(VCP):c.1863C>T (p.Gly621=) rs376510669 0.00003
NM_007254.4(PNKP):c.1302C>T (p.Tyr434=) rs747244348 0.00003
NM_007294.4(BRCA1):c.4251G>A (p.Val1417=) rs777057839 0.00003
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327 0.00003
NM_012210.4(TRIM32):c.-5G>A rs774975492 0.00003
NM_012210.4(TRIM32):c.1134C>T (p.Tyr378=) rs776448126 0.00003
NM_012338.4(TSPAN12):c.440C>A (p.Thr147Asn) rs759104377 0.00003
NM_012469.4(PRPF6):c.772-7C>T rs558787024 0.00003
NM_013382.7(POMT2):c.1017C>T (p.Tyr339=) rs1026361359 0.00003
NM_013382.7(POMT2):c.1743G>A (p.Gly581=) rs755254043 0.00003
NM_013382.7(POMT2):c.651C>T (p.Ala217=) rs147845081 0.00003
NM_014141.6(CNTNAP2):c.1581C>T (p.Asp527=) rs774328147 0.00003
NM_014141.6(CNTNAP2):c.180C>T (p.Pro60=) rs753396304 0.00003
NM_014363.6(SACS):c.8142G>A (p.Ser2714=) rs530250252 0.00003
NM_014425.5(INVS):c.2337G>C (p.Arg779=) rs779298889 0.00003
NM_014491.4(FOXP2):c.2003+10G>C rs199581885 0.00003
NM_014795.4(ZEB2):c.2886+4A>C rs754532627 0.00003
NM_014874.4(MFN2):c.119A>G (p.Asn40Ser) rs1354203259 0.00003
NM_015102.5(NPHP4):c.2646C>T (p.Asp882=) rs774354969 0.00003
NM_015102.5(NPHP4):c.3417G>A (p.Pro1139=) rs371527260 0.00003
NM_015272.5(RPGRIP1L):c.1401+4A>G rs727503880 0.00003
NM_015295.3(SMCHD1):c.5126C>T (p.Ser1709Leu) rs151311806 0.00003
NM_015311.3(OBSL1):c.1215C>T (p.Asp405=) rs564010604 0.00003
NM_015338.6(ASXL1):c.1388G>A (p.Ser463Asn) rs373486603 0.00003
NM_015346.4(ZFYVE26):c.7317C>T (p.Asp2439=) rs147321202 0.00003
NM_015404.4(WHRN):c.1473C>T (p.Phe491=) rs886044241 0.00003
NM_016247.4(IMPG2):c.2531G>A (p.Arg844Gln) rs139105788 0.00003
NM_016356.5(DCDC2):c.1359A>G (p.Pro453=) rs374448795 0.00003
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser) rs201518848 0.00003
NM_017777.4(MKS1):c.813C>T (p.His271=) rs201961765 0.00003
NM_017780.4(CHD7):c.2614-7G>T rs762399977 0.00003
NM_017780.4(CHD7):c.6771C>T (p.Pro2257=) rs367615733 0.00003
NM_018136.5(ASPM):c.8821-9A>G rs375911555 0.00003
NM_018668.5(VPS33B):c.1014C>T (p.His338=) rs765002211 0.00003
NM_020822.3(KCNT1):c.1110G>A (p.Thr370=) rs140367649 0.00003
NM_020822.3(KCNT1):c.285C>T (p.Asn95=) rs558966732 0.00003
NM_020822.3(KCNT1):c.3537C>T (p.Tyr1179=) rs149927148 0.00003
NM_022124.6(CDH23):c.3924C>T (p.Asp1308=) rs776501112 0.00003
NM_022124.6(CDH23):c.4620C>T (p.Asn1540=) rs111033490 0.00003
NM_022124.6(CDH23):c.7077A>C (p.Thr2359=) rs191154178 0.00003
NM_022124.6(CDH23):c.8775C>T (p.Pro2925=) rs766541944 0.00003
NM_022356.4(P3H1):c.2164C>A (p.Gln722Lys) rs771006240 0.00003
NM_022436.3(ABCG5):c.834G>A (p.Ala278=) rs373182673 0.00003
NM_022437.3(ABCG8):c.1125A>G (p.Glu375=) rs371968769 0.00003
NM_022437.3(ABCG8):c.165+10C>T rs574722652 0.00003
NM_022437.3(ABCG8):c.642G>A (p.Ser214=) rs202198142 0.00003
NM_022455.5(NSD1):c.2350C>G (p.Gln784Glu) rs374740802 0.00003
NM_022455.5(NSD1):c.2765C>T (p.Thr922Met) rs753460351 0.00003
NM_022455.5(NSD1):c.3272T>G (p.Leu1091Arg) rs764231926 0.00003
NM_022455.5(NSD1):c.3394G>A (p.Gly1132Arg) rs570278983 0.00003
NM_022455.5(NSD1):c.7779C>T (p.Ala2593=) rs398124388 0.00003
NM_022552.5(DNMT3A):c.2676A>G (p.Ser892=) rs763189481 0.00003
NM_024408.4(NOTCH2):c.2388T>A (p.Ile796=) rs138943874 0.00003
NM_024408.4(NOTCH2):c.4005G>A (p.Pro1335=) rs118188023 0.00003
NM_024408.4(NOTCH2):c.6028-4G>A rs372465730 0.00003
NM_024408.4(NOTCH2):c.6307T>A (p.Ser2103Thr) rs779311707 0.00003
NM_024529.5(CDC73):c.1418-4A>G rs1269877061 0.00003
NM_024577.4(SH3TC2):c.1017C>T (p.Ala339=) rs201779392 0.00003
NM_024596.5(MCPH1):c.297C>T (p.His99=) rs727504012 0.00003
NM_024649.5(BBS1):c.1338C>T (p.Thr446=) rs368302072 0.00003
NM_024757.5(EHMT1):c.589G>A (p.Asp197Asn) rs774174988 0.00003
NM_024757.5(EHMT1):c.86-5G>A rs371370370 0.00003
NM_025074.7(FRAS1):c.8752+9T>C rs191984935 0.00003
NM_030665.4(RAI1):c.195G>A (p.Thr65=) rs377342940 0.00003
NM_031407.7(HUWE1):c.11996+9C>T rs782772316 0.00003
NM_032119.4(ADGRV1):c.10051C>T (p.Leu3351=) rs1445890457 0.00003
NM_032119.4(ADGRV1):c.15059C>A (p.Thr5020Lys) rs753667658 0.00003
NM_032119.4(ADGRV1):c.17108G>A (p.Arg5703His) rs201073459 0.00003
NM_032119.4(ADGRV1):c.17857-6T>C rs773357747 0.00003
NM_032119.4(ADGRV1):c.17869G>A (p.Ala5957Thr) rs765800403 0.00003
NM_032119.4(ADGRV1):c.1854G>A (p.Glu618=) rs376904160 0.00003
NM_032119.4(ADGRV1):c.222C>T (p.Asp74=) rs181146384 0.00003
NM_032119.4(ADGRV1):c.2543G>A (p.Gly848Glu) rs959132080 0.00003
NM_032119.4(ADGRV1):c.267C>T (p.Ala89=) rs759771981 0.00003
NM_032119.4(ADGRV1):c.2885C>G (p.Ser962Cys) rs759360751 0.00003
NM_032119.4(ADGRV1):c.3563T>C (p.Ile1188Thr) rs368562997 0.00003
NM_032119.4(ADGRV1):c.5313+4A>G rs748976832 0.00003
NM_032119.4(ADGRV1):c.5658A>G (p.Thr1886=) rs377468788 0.00003
NM_032119.4(ADGRV1):c.9772G>A (p.Val3258Ile) rs764987437 0.00003
NM_054027.6(ANKH):c.27C>T (p.His9=) rs199583793 0.00003
NM_080632.3(UPF3B):c.758T>C (p.Ile253Thr) rs754982440 0.00003
NM_080680.3(COL11A2):c.2932G>A (p.Asp978Asn) rs772537556 0.00003
NM_080680.3(COL11A2):c.3325C>T (p.Pro1109Ser) rs761687232 0.00003
NM_130468.4(CHST14):c.941G>A (p.Arg314Gln) rs556002453 0.00003
NM_130837.3(OPA1):c.245A>G (p.Tyr82Cys) rs749063844 0.00003
NM_130837.3(OPA1):c.33-8T>C rs370303596 0.00003
NM_130839.5(UBE3A):c.*4A>G rs755581358 0.00003
NM_130839.5(UBE3A):c.582A>G (p.Ala194=) rs764101035 0.00003
NM_130839.5(UBE3A):c.789C>T (p.Asn263=) rs1453409055 0.00003
NM_133497.4(KCNV2):c.1086C>G (p.Arg362=) rs199886720 0.00003
NM_138694.4(PKHD1):c.1913T>C (p.Met638Thr) rs181546197 0.00003
NM_139058.3(ARX):c.306G>T (p.Ala102=) rs587783196 0.00003
NM_144573.4(NEXN):c.249G>A (p.Glu83=) rs372532824 0.00003
NM_152564.5(VPS13B):c.1296A>G (p.Thr432=) rs765163542 0.00003
NM_152564.5(VPS13B):c.1770G>A (p.Ala590=) rs760564848 0.00003
NM_152564.5(VPS13B):c.5761A>G (p.Thr1921Ala) rs112749780 0.00003
NM_152564.5(VPS13B):c.7248C>T (p.Ser2416=) rs886043216 0.00003
NM_153240.5(NPHP3):c.189G>C (p.Gly63=) rs750280281 0.00003
NM_153240.5(NPHP3):c.3609T>C (p.Ala1203=) rs747847543 0.00003
NM_170699.3(GPBAR1):c.321C>T (p.His107=) rs199941566 0.00003
NM_170707.4(LMNA):c.1311C>T (p.Ser437=) rs763224059 0.00003
NM_170707.4(LMNA):c.78C>T (p.Ile26=) rs373721390 0.00003
NM_170784.3(MKKS):c.1161+4G>A rs761886025 0.00003
NM_181486.4(TBX5):c.828C>T (p.Ser276=) rs146908258 0.00003
NM_182746.3(MCM4):c.1800+8G>A rs890413153 0.00003
NM_182961.4(SYNE1):c.11247G>A (p.Thr3749=) rs138882800 0.00003
NM_182961.4(SYNE1):c.11595G>A (p.Thr3865=) rs760332489 0.00003
NM_182961.4(SYNE1):c.12573C>T (p.Thr4191=) rs143851739 0.00003
NM_182961.4(SYNE1):c.12930C>T (p.Asp4310=) rs760209358 0.00003
NM_182961.4(SYNE1):c.13209G>A (p.Ser4403=) rs773593843 0.00003
NM_182961.4(SYNE1):c.18930G>T (p.Gln6310His) rs759556319 0.00003
NM_182961.4(SYNE1):c.18972+4T>C rs774096623 0.00003
NM_182961.4(SYNE1):c.22035T>G (p.Thr7345=) rs750669148 0.00003
NM_182961.4(SYNE1):c.24449A>G (p.Lys8150Arg) rs557350925 0.00003
NM_182961.4(SYNE1):c.3670-4A>G rs377058395 0.00003
NM_182961.4(SYNE1):c.5250A>G (p.Pro1750=) rs368364250 0.00003
NM_194248.3(OTOF):c.4922G>A (p.Arg1641His) rs200283244 0.00003
NM_198253.3(TERT):c.150G>A (p.Leu50=) rs886044153 0.00003
NM_201384.3(PLEC):c.10729G>A (p.Gly3577Ser) rs782299720 0.00003
NM_201384.3(PLEC):c.12585C>T (p.Ile4195=) rs1002095432 0.00003
NM_201384.3(PLEC):c.2550C>G (p.Ala850=) rs376777606 0.00003
NM_201384.3(PLEC):c.3501C>T (p.His1167=) rs782038506 0.00003
NM_201384.3(PLEC):c.366T>C (p.Asn122=) rs782096761 0.00003
NM_201384.3(PLEC):c.3955C>T (p.Leu1319=) rs201416081 0.00003
NM_201384.3(PLEC):c.7220G>A (p.Arg2407Gln) rs782618396 0.00003
NM_201384.3(PLEC):c.7592G>A (p.Arg2531His) rs369729231 0.00003
NM_201384.3(PLEC):c.7822G>A (p.Ala2608Thr) rs199995144 0.00003
NM_201384.3(PLEC):c.9288A>G (p.Leu3096=) rs782397500 0.00003
NM_206933.4(USH2A):c.10497T>C (p.Pro3499=) rs749177032 0.00003
NM_206933.4(USH2A):c.6618A>G (p.Gln2206=) rs745614158 0.00003
NM_213599.3(ANO5):c.276A>G (p.Lys92=) rs201678262 0.00003
NM_000035.4(ALDOB):c.465C>T (p.Ala155=) rs569981883 0.00002
NM_000036.3(AMPD1):c.144G>A (p.Pro48=) rs145786786 0.00002
NM_000037.4(ANK1):c.5370G>T (p.Lys1790Asn) rs760157830 0.00002
NM_000038.6(APC):c.5363G>A (p.Arg1788His) rs201472075 0.00002
NM_000059.4(BRCA2):c.5270A>G (p.Tyr1757Cys) rs587776466 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_000092.5(COL4A4):c.372+7A>G rs1483461114 0.00002
NM_000117.3(EMD):c.662G>T (p.Arg221Leu) rs782057378 0.00002
NM_000127.3(EXT1):c.2148G>A (p.Pro716=) rs757499157 0.00002
NM_000128.4(F11):c.1560G>T (p.Gly520=) rs794727084 0.00002
NM_000141.5(FGFR2):c.2106G>A (p.Ser702=) rs794727163 0.00002
NM_000152.5(GAA):c.1083G>A (p.Pro361=) rs781379047 0.00002
NM_000152.5(GAA):c.1560C>T (p.Asn520=) rs116322271 0.00002
NM_000152.5(GAA):c.2190-4G>A rs759974338 0.00002
NM_000152.5(GAA):c.705G>A (p.Thr235=) rs2304846 0.00002
NM_000156.6(GAMT):c.189G>C (p.Arg63=) rs568392459 0.00002
NM_000214.3(JAG1):c.1308C>T (p.Cys436=) rs764485729 0.00002
NM_000214.3(JAG1):c.2199C>T (p.Gly733=) rs756062969 0.00002
NM_000214.3(JAG1):c.489C>T (p.Pro163=) rs376298235 0.00002
NM_000238.4(KCNH2):c.2331C>T (p.Thr777=) rs41307292 0.00002
NM_000257.4(MYH7):c.4689G>A (p.Leu1563=) rs770477774 0.00002
NM_000260.4(MYO7A):c.1209C>T (p.Tyr403=) rs782397746 0.00002
NM_000260.4(MYO7A):c.4851C>T (p.Pro1617=) rs372535399 0.00002
NM_000260.4(MYO7A):c.5004C>T (p.Tyr1668=) rs1479835169 0.00002
NM_000286.3(PEX12):c.570A>G (p.Ser190=) rs758132842 0.00002
NM_000318.3(PEX2):c.174G>A (p.Ala58=) rs150987080 0.00002
NM_000336.3(SCNN1B):c.1663C>T (p.Leu555=) rs779990343 0.00002
NM_000337.6(SGCD):c.193-7A>G rs747018859 0.00002
NM_000362.5(TIMP3):c.255A>G (p.Glu85=) rs373801773 0.00002
NM_000368.5(TSC1):c.2077G>C (p.Asp693His) rs397514800 0.00002
NM_000390.4(CHM):c.1771-8T>C rs912390081 0.00002
NM_000391.4(TPP1):c.1552-9C>T rs369699167 0.00002
NM_000392.5(ABCC2):c.2747+10C>T rs772329652 0.00002
NM_000392.5(ABCC2):c.306C>A (p.Thr102=) rs559908064 0.00002
NM_000392.5(ABCC2):c.4431G>A (p.Thr1477=) rs146718433 0.00002
NM_000414.4(HSD17B4):c.1278A>T (p.Glu426Asp) rs780820166 0.00002
NM_000414.4(HSD17B4):c.501A>C (p.Ala167=) rs776640310 0.00002
NM_000443.4(ABCB4):c.1723C>T (p.Leu575=) rs748044865 0.00002
NM_000443.4(ABCB4):c.201C>T (p.His67=) rs747703354 0.00002
NM_000443.4(ABCB4):c.2811T>C (p.Tyr937=) rs1461886025 0.00002
NM_000443.4(ABCB4):c.3381C>T (p.Ala1127=) rs766402494 0.00002
NM_000443.4(ABCB4):c.54G>A (p.Glu18=) rs141141860 0.00002
NM_000452.3(SLC10A2):c.246A>G (p.Thr82=) rs761652195 0.00002
NM_000452.3(SLC10A2):c.45T>C (p.Ser15=) rs374581163 0.00002
NM_000458.4(HNF1B):c.1488C>T (p.Ala496=) rs773569563 0.00002
NM_000463.3(UGT1A1):c.-4C>T rs752018052 0.00002
NM_000466.3(PEX1):c.2268A>G (p.Lys756=) rs1434174453 0.00002
NM_000487.6(ARSA):c.930C>T (p.Gly310=) rs767751622 0.00002
NM_000492.4(CFTR):c.3024C>T (p.Val1008=) rs774643457 0.00002
NM_000492.4(CFTR):c.3852A>G (p.Lys1284=) rs547248892 0.00002
NM_000540.3(RYR1):c.14817C>T (p.Asp4939=) rs193922895 0.00002
NM_000540.3(RYR1):c.3127C>T (p.Arg1043Cys) rs111272095 0.00002
NM_000540.3(RYR1):c.4980C>T (p.Arg1660=) rs374115286 0.00002
NM_000540.3(RYR1):c.7615-5C>T rs768008924 0.00002
NM_000543.5(SMPD1):c.102C>G (p.Gly34=) rs889113421 0.00002
NM_000543.5(SMPD1):c.234C>T (p.Pro78=) rs575601110 0.00002
NM_000548.5(TSC2):c.1818C>T (p.Ile606=) rs547389841 0.00002
NM_000548.5(TSC2):c.3270C>T (p.Ser1090=) rs754951889 0.00002
NM_000548.5(TSC2):c.354C>G (p.Val118=) rs762228318 0.00002
NM_000548.5(TSC2):c.3768G>A (p.Pro1256=) rs201599540 0.00002
NM_000548.5(TSC2):c.4077C>T (p.Ile1359=) rs150999168 0.00002
NM_000719.7(CACNA1C):c.5091+8G>A rs768117202 0.00002
NM_000719.7(CACNA1C):c.5106G>A (p.Leu1702=) rs541967618 0.00002
NM_000719.7(CACNA1C):c.5772G>C (p.Leu1924=) rs757373786 0.00002
NM_000719.7(CACNA1C):c.666C>T (p.Asn222=) rs527741368 0.00002
NM_000726.5(CACNB4):c.1437G>A (p.Gln479=) rs794727118 0.00002
NM_000742.4(CHRNA2):c.1270G>A (p.Ala424Thr) rs767138285 0.00002
NM_001015877.2(PHF6):c.688A>G (p.Ile230Val) rs794727879 0.00002
NM_001025295.3(IFITM5):c.100C>T (p.Arg34Ter) rs531009160 0.00002
NM_001029883.3(PCARE):c.85C>T (p.Arg29Trp) rs201706430 0.00002
NM_001034850.3(RETREG1):c.1182T>C (p.Ala394=) rs886043753 0.00002
NM_001035.3(RYR2):c.3180C>T (p.Tyr1060=) rs398123540 0.00002
NM_001039141.3(TRIOBP):c.6472+19_6472+20insA rs397769084 0.00002
NM_001040167.2(LFNG):c.774C>T (p.Gly258=) rs770507072 0.00002
NM_001077525.3(MTMR14):c.540G>A (p.Glu180=) rs993417750 0.00002
NM_001079802.2(FKTN):c.30G>A (p.Leu10=) rs202047149 0.00002
NM_001079802.2(FKTN):c.63G>C (p.Leu21=) rs766642997 0.00002
NM_001101426.4(CRPPA):c.402A>G (p.Leu134=) rs368815582 0.00002
NM_001101426.4(CRPPA):c.52C>T (p.Leu18=) rs886043287 0.00002
NM_001101426.4(CRPPA):c.825G>A (p.Ser275=) rs766874330 0.00002
NM_001110556.2(FLNA):c.1000G>A (p.Ala334Thr) rs886044859 0.00002
NM_001110556.2(FLNA):c.3147C>T (p.Gly1049=) rs398123615 0.00002
NM_001110556.2(FLNA):c.623-7G>A rs782670288 0.00002
NM_001110556.2(FLNA):c.7794G>A (p.Arg2598=) rs782372740 0.00002
NM_001110792.2(MECP2):c.1410C>T (p.Arg470=) rs781825661 0.00002
NM_001110792.2(MECP2):c.727G>A (p.Gly243Arg) rs587783139 0.00002
NM_001111125.3(IQSEC2):c.1695C>T (p.Asp565=) rs886044781 0.00002
NM_001127222.2(CACNA1A):c.6464G>T (p.Arg2155Leu) rs572722130 0.00002
NM_001127222.2(CACNA1A):c.699A>G (p.Leu233=) rs749587119 0.00002
NM_001130438.3(SPTAN1):c.131A>G (p.Tyr44Cys) rs368482631 0.00002
NM_001130438.3(SPTAN1):c.3060C>T (p.Tyr1020=) rs530361602 0.00002
NM_001159699.2(FHL1):c.447G>A (p.Lys149=) rs768142579 0.00002
NM_001164508.2(NEB):c.4283A>G (p.Asn1428Ser) rs565184120 0.00002
NM_001165963.4(SCN1A):c.4284+7G>A rs745918943 0.00002
NM_001173990.3(TMEM216):c.57G>T (p.Pro19=) rs769285695 0.00002
NM_001177316.2(SLC34A3):c.449-3C>T rs757092241 0.00002
NM_001184880.2(PCDH19):c.2721T>C (p.Ser907=) rs376946966 0.00002
NM_001193315.2(VIPAS39):c.1005A>T (p.Thr335=) rs765454382 0.00002
NM_001193315.2(VIPAS39):c.1164C>T (p.Ala388=) rs886043868 0.00002
NM_001256317.3(TMPRSS3):c.999C>T (p.Pro333=) rs192630206 0.00002
NM_001267550.2(TTN):c.102614G>A (p.Gly34205Asp) rs367926247 0.00002
NM_001267550.2(TTN):c.103302T>C (p.Tyr34434=) rs773408387 0.00002
NM_001267550.2(TTN):c.107517T>G (p.Ser35839Arg) rs776981475 0.00002
NM_001267550.2(TTN):c.1450G>A (p.Asp484Asn) rs768211726 0.00002
NM_001267550.2(TTN):c.15430G>A (p.Glu5144Lys) rs766612317 0.00002
NM_001267550.2(TTN):c.16738A>G (p.Asn5580Asp) rs376598696 0.00002
NM_001267550.2(TTN):c.16959T>C (p.Asp5653=) rs770260995 0.00002
NM_001267550.2(TTN):c.17346C>T (p.Asn5782=) rs535281449 0.00002
NM_001267550.2(TTN):c.17596G>T (p.Gly5866Cys) rs753136638 0.00002
NM_001267550.2(TTN):c.18720A>G (p.Arg6240=) rs201395913 0.00002
NM_001267550.2(TTN):c.18777C>A (p.Thr6259=) rs750180579 0.00002
NM_001267550.2(TTN):c.21689C>T (p.Ala7230Val) rs761223583 0.00002
NM_001267550.2(TTN):c.23076C>T (p.Cys7692=) rs769505705 0.00002
NM_001267550.2(TTN):c.2649C>T (p.Phe883=) rs775588479 0.00002
NM_001267550.2(TTN):c.26557G>C (p.Val8853Leu) rs757381520 0.00002
NM_001267550.2(TTN):c.26985C>A (p.Asp8995Glu) rs781351100 0.00002
NM_001267550.2(TTN):c.27592C>G (p.Gln9198Glu) rs72648995 0.00002
NM_001267550.2(TTN):c.29219A>G (p.Asn9740Ser) rs753121692 0.00002
NM_001267550.2(TTN):c.29937C>T (p.Ile9979=) rs878892843 0.00002
NM_001267550.2(TTN):c.32471-6C>T rs763361422 0.00002
NM_001267550.2(TTN):c.39099T>C (p.Pro13033=) rs755793186 0.00002
NM_001267550.2(TTN):c.39368C>T (p.Ala13123Val) rs761828404 0.00002
NM_001267550.2(TTN):c.39786A>G (p.Glu13262=) rs398124450 0.00002
NM_001267550.2(TTN):c.42687C>T (p.Ala14229=) rs775889693 0.00002
NM_001267550.2(TTN):c.4284T>A (p.Ser1428=) rs771454835 0.00002
NM_001267550.2(TTN):c.42892G>A (p.Glu14298Lys) rs778634417 0.00002
NM_001267550.2(TTN):c.45567C>T (p.Tyr15189=) rs1455525236 0.00002
NM_001267550.2(TTN):c.47766C>T (p.Thr15922=) rs757006832 0.00002
NM_001267550.2(TTN):c.49032G>A (p.Val16344=) rs587780980 0.00002
NM_001267550.2(TTN):c.50531T>C (p.Leu16844Pro) rs764983586 0.00002
NM_001267550.2(TTN):c.51961C>T (p.Arg17321Cys) rs752764827 0.00002
NM_001267550.2(TTN):c.53261T>C (p.Phe17754Ser) rs749312983 0.00002
NM_001267550.2(TTN):c.53443A>G (p.Ile17815Val) rs368065637 0.00002
NM_001267550.2(TTN):c.5373C>A (p.Thr1791=) rs727503693 0.00002
NM_001267550.2(TTN):c.54314G>A (p.Arg18105His) rs760383112 0.00002
NM_001267550.2(TTN):c.574C>T (p.Leu192=) rs767983460 0.00002
NM_001267550.2(TTN):c.59937G>A (p.Gly19979=) rs727505101 0.00002
NM_001267550.2(TTN):c.64338T>C (p.Ala21446=) rs371514555 0.00002
NM_001267550.2(TTN):c.6478A>G (p.Thr2160Ala) rs397517693 0.00002
NM_001267550.2(TTN):c.65300T>C (p.Ile21767Thr) rs762578274 0.00002
NM_001267550.2(TTN):c.65319T>C (p.Thr21773=) rs746956869 0.00002
NM_001267550.2(TTN):c.69204C>A (p.Gly23068=) rs188919648 0.00002
NM_001267550.2(TTN):c.69227T>C (p.Ile23076Thr) rs765930349 0.00002
NM_001267550.2(TTN):c.6945A>G (p.Thr2315=) rs879103814 0.00002
NM_001267550.2(TTN):c.69554G>A (p.Arg23185Gln) rs201448988 0.00002
NM_001267550.2(TTN):c.70044C>T (p.Ala23348=) rs771534964 0.00002
NM_001267550.2(TTN):c.7020C>T (p.Ile2340=) rs587780986 0.00002
NM_001267550.2(TTN):c.70260G>A (p.Pro23420=) rs72646887 0.00002
NM_001267550.2(TTN):c.70435C>T (p.Arg23479Trp) rs760509116 0.00002
NM_001267550.2(TTN):c.71789A>T (p.Lys23930Ile) rs752648041 0.00002
NM_001267550.2(TTN):c.71903A>C (p.Asn23968Thr) rs769320596 0.00002
NM_001267550.2(TTN):c.732C>T (p.Ala244=) rs761859812 0.00002
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp) rs373527654 0.00002
NM_001267550.2(TTN):c.7524T>C (p.His2508=) rs2291307 0.00002
NM_001267550.2(TTN):c.76482C>T (p.Asp25494=) rs370908118 0.00002
NM_001267550.2(TTN):c.79545C>T (p.Gly26515=) rs761713195 0.00002
NM_001267550.2(TTN):c.81850G>A (p.Val27284Ile) rs746222222 0.00002
NM_001267550.2(TTN):c.82582C>T (p.Arg27528Trp) rs749852593 0.00002
NM_001267550.2(TTN):c.85624A>G (p.Ile28542Val) rs554841820 0.00002
NM_001267550.2(TTN):c.86045C>T (p.Pro28682Leu) rs760467197 0.00002
NM_001267550.2(TTN):c.86140G>A (p.Gly28714Arg) rs532818379 0.00002
NM_001267550.2(TTN):c.90332T>C (p.Leu30111Pro) rs368516973 0.00002
NM_001267550.2(TTN):c.9176A>T (p.Glu3059Val) rs727504501 0.00002
NM_001267550.2(TTN):c.92612T>C (p.Val30871Ala) rs756610221 0.00002
NM_001267550.2(TTN):c.96039T>C (p.Asp32013=) rs1553518883 0.00002
NM_001267550.2(TTN):c.99581C>T (p.Pro33194Leu) rs140025425 0.00002
NM_001305581.2(LRMDA):c.602-8A>T rs565236615 0.00002
NM_001330078.2(NRXN1):c.1320+10G>A rs113028018 0.00002
NM_001330260.2(SCN8A):c.3060G>A (p.Gln1020=) rs528718802 0.00002
NM_001330260.2(SCN8A):c.4719G>A (p.Met1573Ile) rs780940263 0.00002
NM_001349206.2(LPIN1):c.1044C>T (p.Ser348=) rs775088748 0.00002
NM_001351132.2(PEX5):c.1111-4C>G rs376699778 0.00002
NM_001353214.3(DYM):c.288-10G>A rs557407004 0.00002
NM_001358921.2(COQ2):c.868C>T (p.Leu290=) rs375066516 0.00002
NM_001374353.1(GLI2):c.1481C>T (p.Ser494Leu) rs372925840 0.00002
NM_001374385.1(ATP8B1):c.1029+5T>C rs200663890 0.00002
NM_001374385.1(ATP8B1):c.3532-8C>G rs1322207888 0.00002
NM_001374385.1(ATP8B1):c.3553T>C (p.Leu1185=) rs751410046 0.00002
NM_001376.5(DYNC1H1):c.12450G>A (p.Pro4150=) rs749647281 0.00002
NM_001378414.1(HDAC4):c.339+10G>A rs199918439 0.00002
NM_001378454.1(ALMS1):c.3432C>T (p.Tyr1144=) rs768929630 0.00002
NM_001378454.1(ALMS1):c.813G>A (p.Ser271=) rs775482774 0.00002
NM_001378454.1(ALMS1):c.9050A>G (p.Asn3017Ser) rs768218725 0.00002
NM_001378615.1(CC2D2A):c.1497A>G (p.Gln499=) rs368116362 0.00002
NM_001378615.1(CC2D2A):c.3054G>A (p.Lys1018=) rs377575861 0.00002
NM_001384140.1(PCDH15):c.3009+7G>A rs201161336 0.00002
NM_001384140.1(PCDH15):c.4049G>A (p.Arg1350His) rs752356781 0.00002
NM_001457.4(FLNB):c.6497C>T (p.Thr2166Met) rs199939739 0.00002
NM_001458.5(FLNC):c.2008-7C>T rs767576240 0.00002
NM_001458.5(FLNC):c.5375C>T (p.Ala1792Val) rs200233856 0.00002
NM_001458.5(FLNC):c.8070G>T (p.Arg2690=) rs373087529 0.00002
NM_001701.4(BAAT):c.102A>T (p.Ala34=) rs774722346 0.00002
NM_001701.4(BAAT):c.903A>T (p.Thr301=) rs767910529 0.00002
NM_001793.6(CDH3):c.2178G>A (p.Pro726=) rs398123626 0.00002
NM_001844.5(COL2A1):c.1743T>C (p.Pro581=) rs755517458 0.00002
NM_001845.6(COL4A1):c.1897+7C>G rs773791331 0.00002
NM_001848.3(COL6A1):c.1782C>T (p.Cys594=) rs745847824 0.00002
NM_001848.3(COL6A1):c.2712C>T (p.Val904=) rs780582491 0.00002
NM_001848.3(COL6A1):c.2797G>A (p.Gly933Ser) rs201835072 0.00002
NM_001848.3(COL6A1):c.717C>T (p.Ile239=) rs775349013 0.00002
NM_001848.3(COL6A1):c.859-18T>A rs398123641 0.00002
NM_001849.4(COL6A2):c.2031C>T (p.Asp677=) rs759646708 0.00002
NM_001853.4(COL9A3):c.1881C>T (p.Pro627=) rs372602506 0.00002
NM_001927.4(DES):c.708C>T (p.Ile236=) rs886044078 0.00002
NM_001943.5(DSG2):c.84C>G (p.Val28=) rs397516711 0.00002
NM_001999.4(FBN2):c.1194C>T (p.Ile398=) rs766004910 0.00002
NM_002335.4(LRP5):c.738C>T (p.Ser246=) rs768638466 0.00002
NM_002351.5(SH2D1A):c.53A>G (p.Lys18Arg) rs1303880423 0.00002
NM_002397.5(MEF2C):c.489A>G (p.Ser163=) rs781632867 0.00002
NM_002471.4(MYH6):c.2217T>C (p.Asp739=) rs374177807 0.00002
NM_002473.6(MYH9):c.108C>T (p.Ser36=) rs764743124 0.00002
NM_002485.5(NBN):c.120G>T (p.Ser40=) rs774989816 0.00002
NM_002547.3(OPHN1):c.360G>A (p.Arg120=) rs727504062 0.00002
NM_002693.3(POLG):c.1929T>C (p.Ala643=) rs745800212 0.00002
NM_002693.3(POLG):c.3630C>T (p.Tyr1210=) rs139562274 0.00002
NM_002880.4(RAF1):c.639T>C (p.Thr213=) rs397516823 0.00002
NM_003482.4(KMT2D):c.6204G>A (p.Arg2068=) rs532098737 0.00002
NM_003659.4(AGPS):c.549A>G (p.Val183=) rs774279058 0.00002
NM_004006.3(DMD):c.10677T>C (p.Ile3559=) rs765950547 0.00002
NM_004006.3(DMD):c.1573G>A (p.Ala525Thr) rs754158494 0.00002
NM_004006.3(DMD):c.159C>A (p.Leu53=) rs762245872 0.00002
NM_004006.3(DMD):c.2210G>A (p.Arg737His) rs773358704 0.00002
NM_004006.3(DMD):c.2828G>A (p.Arg943His) rs398123911 0.00002
NM_004006.3(DMD):c.2967G>T (p.Leu989=) rs760097427 0.00002
NM_004006.3(DMD):c.3327T>C (p.Asn1109=) rs775591219 0.00002
NM_004006.3(DMD):c.4345-8C>T rs886044675 0.00002
NM_004006.3(DMD):c.4851T>G (p.Thr1617=) rs143719666 0.00002
NM_004006.3(DMD):c.579A>T (p.Thr193=) rs766344083 0.00002
NM_004006.3(DMD):c.693C>T (p.Tyr231=) rs374222301 0.00002
NM_004006.3(DMD):c.7455G>T (p.Trp2485Cys) rs765207227 0.00002
NM_004006.3(DMD):c.7585G>C (p.Glu2529Gln) rs771509836 0.00002
NM_004006.3(DMD):c.7602C>T (p.Ala2534=) rs748309027 0.00002
NM_004006.3(DMD):c.8147A>G (p.Gln2716Arg) rs750640802 0.00002
NM_004006.3(DMD):c.8520A>G (p.Ala2840=) rs767304792 0.00002
NM_004006.3(DMD):c.8890G>T (p.Gly2964Cys) rs368114420 0.00002
NM_004006.3(DMD):c.960+9A>G rs886038537 0.00002
NM_004260.4(RECQL4):c.969C>T (p.Ser323=) rs745658597 0.00002
NM_004369.4(COL6A3):c.2196G>A (p.Thr732=) rs768242367 0.00002
NM_004369.4(COL6A3):c.2497+9C>A rs774198344 0.00002
NM_004369.4(COL6A3):c.3699C>T (p.Asp1233=) rs542411896 0.00002
NM_004369.4(COL6A3):c.8891C>T (p.Ala2964Val) rs563813743 0.00002
NM_004369.4(COL6A3):c.9345G>A (p.Pro3115=) rs748814297 0.00002
NM_004463.3(FGD1):c.771C>T (p.Pro257=) rs757589705 0.00002
NM_004530.6(MMP2):c.105C>T (p.Ile35=) rs764055331 0.00002
NM_004560.4(ROR2):c.1236C>T (p.Ile412=) rs752218712 0.00002
NM_004813.4(PEX16):c.885C>T (p.Ser295=) rs200415017 0.00002
NM_004817.4(TJP2):c.2832G>A (p.Pro944=) rs191634088 0.00002
NM_004817.4(TJP2):c.972G>T (p.Gly324=) rs372333417 0.00002
NM_004820.5(CYP7B1):c.129C>T (p.Pro43=) rs1471365409 0.00002
NM_005045.4(RELN):c.1278C>T (p.Ser426=) rs755465811 0.00002
NM_005045.4(RELN):c.226+8C>T rs369454305 0.00002
NM_005045.4(RELN):c.6106G>A (p.Ala2036Thr) rs371614773 0.00002
NM_005249.5(FOXG1):c.326C>T (p.Pro109Leu) rs398124203 0.00002
NM_005477.3(HCN4):c.2370T>C (p.Ser790=) rs747648596 0.00002
NM_005633.4(SOS1):c.39A>G (p.Glu13=) rs763337946 0.00002
NM_005670.4(EPM2A):c.620G>A (p.Arg207His) rs571938170 0.00002
NM_005857.5(ZMPSTE24):c.750G>A (p.Thr250=) rs750229142 0.00002
NM_005989.4(AKR1D1):c.336T>C (p.Asp112=) rs200261541 0.00002
NM_006005.3(WFS1):c.1416C>A (p.Pro472=) rs530734300 0.00002
NM_006261.5(PROP1):c.52G>A (p.Gly18Ser) rs775353413 0.00002
NM_006516.4(SLC2A1):c.322G>A (p.Val108Met) rs74323945 0.00002
NM_006662.3(SRCAP):c.6576G>A (p.Glu2192=) rs886044120 0.00002
NM_006899.5(IDH3B):c.1011-9T>C rs746209011 0.00002
NM_006922.4(SCN3A):c.1773T>C (p.Asn591=) rs76144052 0.00002
NM_007254.4(PNKP):c.1030-5C>T rs374745816 0.00002
NM_007294.4(BRCA1):c.3012G>A (p.Glu1004=) rs786201784 0.00002
NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp) rs80356876 0.00002
NM_007294.4(BRCA1):c.522A>G (p.Gln174=) rs765432756 0.00002
NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg) rs80357323 0.00002
NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala) rs730881018 0.00002
NM_012210.4(TRIM32):c.1140C>T (p.Thr380=) rs142715198 0.00002
NM_012210.4(TRIM32):c.1530A>G (p.Leu510=) rs145728860 0.00002
NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp) rs572052810 0.00002
NM_012469.4(PRPF6):c.171G>C (p.Gly57=) rs749669162 0.00002
NM_013382.7(POMT2):c.1654-8T>G rs780532724 0.00002
NM_014140.4(SMARCAL1):c.2778G>A (p.Leu926=) rs373335368 0.00002
NM_014141.6(CNTNAP2):c.1603G>A (p.Glu535Lys) rs76475298 0.00002
NM_014141.6(CNTNAP2):c.3132G>A (p.Pro1044=) rs761663690 0.00002
NM_014251.3(SLC25A13):c.1236C>T (p.Asn412=) rs747257110 0.00002
NM_014251.3(SLC25A13):c.1506G>A (p.Pro502=) rs144494809 0.00002
NM_014251.3(SLC25A13):c.1695C>T (p.Cys565=) rs765192701 0.00002
NM_014363.6(SACS):c.6240T>C (p.Val2080=) rs550680855 0.00002
NM_014363.6(SACS):c.7466C>A (p.Pro2489His) rs766553685 0.00002
NM_014780.5(CUL7):c.3861C>T (p.Ala1287=) rs745678508 0.00002
NM_014845.6(FIG4):c.1583+3A>G rs866431185 0.00002
NM_015102.5(NPHP4):c.3348C>T (p.Ile1116=) rs751938743 0.00002
NM_015294.6(TRIM37):c.2280G>A (p.Ser760=) rs767616734 0.00002
NM_015506.3(MMACHC):c.603T>C (p.Arg201=) rs398124294 0.00002
NM_017777.4(MKS1):c.279C>T (p.Tyr93=) rs187870415 0.00002
NM_017777.4(MKS1):c.644+9C>T rs754404940 0.00002
NM_017780.4(CHD7):c.7346G>C (p.Arg2449Thr) rs727503870 0.00002
NM_018006.5(TRMU):c.18C>T (p.His6=) rs527315924 0.00002
NM_018006.5(TRMU):c.83-4G>A rs369925943 0.00002
NM_018136.5(ASPM):c.2103G>A (p.Gln701=) rs370972881 0.00002
NM_018136.5(ASPM):c.2205G>A (p.Glu735=) rs755350285 0.00002
NM_018136.5(ASPM):c.6849C>G (p.Leu2283=) rs756622578 0.00002
NM_018668.5(VPS33B):c.177+5T>A rs747146575 0.00002
NM_018668.5(VPS33B):c.198A>G (p.Leu66=) rs1416595652 0.00002
NM_020631.6(PLEKHG5):c.2433C>T (p.Arg811=) rs759272412 0.00002
NM_020754.4(ARHGAP31):c.2412G>A (p.Pro804=) rs776194035 0.00002
NM_020822.3(KCNT1):c.1927C>T (p.Arg643Trp) rs532620254 0.00002
NM_020822.3(KCNT1):c.299G>A (p.Arg100Gln) rs752032951 0.00002
NM_022124.6(CDH23):c.996G>A (p.Thr332=) rs727504715 0.00002
NM_022436.3(ABCG5):c.282G>A (p.Thr94=) rs756339433 0.00002
NM_022436.3(ABCG5):c.408C>T (p.Asp136=) rs141386201 0.00002
NM_022436.3(ABCG5):c.511G>A (p.Val171Ile) rs777411661 0.00002
NM_022436.3(ABCG5):c.804C>T (p.Phe268=) rs554183818 0.00002
NM_022437.3(ABCG8):c.1557C>T (p.Ala519=) rs368114257 0.00002
NM_022437.3(ABCG8):c.1596C>T (p.Phe532=) rs374820261 0.00002
NM_022437.3(ABCG8):c.1667T>C (p.Phe556Ser) rs548098742 0.00002
NM_022437.3(ABCG8):c.2013A>G (p.Gln671=) rs373862876 0.00002
NM_022437.3(ABCG8):c.695-7T>C rs374648568 0.00002
NM_022455.5(NSD1):c.3697C>T (p.Arg1233Trp) rs771467409 0.00002
NM_022455.5(NSD1):c.6887T>C (p.Val2296Ala) rs754309202 0.00002
NM_024408.4(NOTCH2):c.4002C>G (p.Pro1334=) rs1390174762 0.00002
NM_024596.5(MCPH1):c.671-3C>T rs374793979 0.00002
NM_024757.5(EHMT1):c.183C>T (p.Ser61=) rs774448433 0.00002
NM_025193.4(HSD3B7):c.431+7_431+8insA rs1343784849 0.00002
NM_025219.3(DNAJC5):c.444C>T (p.Phe148=) rs772254851 0.00002
NM_030665.4(RAI1):c.660C>T (p.Ser220=) rs756623054 0.00002
NM_031935.3(HMCN1):c.8764C>A (p.Leu2922Ile) rs200871004 0.00002
NM_032119.4(ADGRV1):c.14931A>G (p.Leu4977=) rs760841840 0.00002
NM_032119.4(ADGRV1):c.4975G>A (p.Glu1659Lys) rs775893405 0.00002
NM_032119.4(ADGRV1):c.5835G>A (p.Lys1945=) rs569899625 0.00002
NM_032119.4(ADGRV1):c.6524T>C (p.Val2175Ala) rs771811961 0.00002
NM_032119.4(ADGRV1):c.8004C>T (p.Asp2668=) rs369591434 0.00002
NM_032409.3(PINK1):c.434C>T (p.Thr145Met) rs45604240 0.00002
NM_032575.3(GLIS2):c.15C>T (p.Asp5=) rs751898309 0.00002
NM_033380.3(COL4A5):c.2295A>G (p.Pro765=) rs141247183 0.00002
NM_078470.6(COX15):c.933C>G (p.Ile311Met) rs556026559 0.00002
NM_080680.3(COL11A2):c.1380G>A (p.Gly460=) rs373168555 0.00002
NM_080680.3(COL11A2):c.2637T>C (p.Pro879=) rs199677738 0.00002
NM_080680.3(COL11A2):c.5106G>A (p.Thr1702=) rs752823488 0.00002
NM_080680.3(COL11A2):c.844G>A (p.Val282Met) rs146432857 0.00002
NM_080916.3(DGUOK):c.337T>C (p.Phe113Leu) rs141810774 0.00002
NM_133433.4(NIPBL):c.126T>C (p.Phe42=) rs727504046 0.00002
NM_133642.5(LARGE1):c.1132-8C>T rs748964975 0.00002
NM_133642.5(LARGE1):c.1611G>A (p.Glu537=) rs372629986 0.00002
NM_138694.4(PKHD1):c.10968A>G (p.Glu3656=) rs1303599332 0.00002
NM_138694.4(PKHD1):c.2265G>A (p.Pro755=) rs375603741 0.00002
NM_138694.4(PKHD1):c.668-3C>T rs775002568 0.00002
NM_138694.4(PKHD1):c.778+10C>G rs1365502451 0.00002
NM_138694.4(PKHD1):c.873C>T (p.Thr291=) rs769773725 0.00002
NM_139058.3(ARX):c.1272G>A (p.Pro424=) rs398124507 0.00002
NM_139058.3(ARX):c.300G>A (p.Ala100=) rs797045294 0.00002
NM_139319.3(SLC17A8):c.1578C>T (p.Asp526=) rs141294063 0.00002
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His) rs771667880 0.00002
NM_153240.5(NPHP3):c.1357C>T (p.Leu453=) rs535110862 0.00002
NM_153240.5(NPHP3):c.3063G>A (p.Ala1021=) rs769832219 0.00002
NM_170707.4(LMNA):c.1047G>A (p.Arg349=) rs147015659 0.00002
NM_170707.4(LMNA):c.1098G>A (p.Lys366=) rs57901307 0.00002
NM_170707.4(LMNA):c.1185G>A (p.Ser395=) rs397517890 0.00002
NM_170707.4(LMNA):c.870G>A (p.Glu290=) rs747275587 0.00002
NM_172107.4(KCNQ2):c.1842C>T (p.Pro614=) rs552807375 0.00002
NM_173495.3(PTCHD1):c.2041G>A (p.Val681Ile) rs150912089 0.00002
NM_181332.3(NLGN4X):c.579C>T (p.Tyr193=) rs398124366 0.00002
NM_182961.4(SYNE1):c.11001C>T (p.Asp3667=) rs750318922 0.00002
NM_182961.4(SYNE1):c.16553G>A (p.Arg5518Gln) rs150604289 0.00002
NM_182961.4(SYNE1):c.3837+8T>C rs377391406 0.00002
NM_182961.4(SYNE1):c.581+10A>G rs771573516 0.00002
NM_182961.4(SYNE1):c.9933C>T (p.Ser3311=) rs759403157 0.00002
NM_201384.3(PLEC):c.4117C>T (p.Arg1373Trp) rs782378494 0.00002
NM_201384.3(PLEC):c.537A>G (p.Arg179=) rs782604399 0.00002
NM_201384.3(PLEC):c.678G>A (p.Ala226=) rs782369854 0.00002
NM_201384.3(PLEC):c.7741C>T (p.Arg2581Trp) rs782485083 0.00002
NM_201384.3(PLEC):c.825C>T (p.Asn275=) rs113133985 0.00002
NM_206933.4(USH2A):c.11124C>G (p.Pro3708=) rs773828586 0.00002
NM_206933.4(USH2A):c.3887T>C (p.Val1296Ala) rs552551256 0.00002
NM_206933.4(USH2A):c.4071G>A (p.Thr1357=) rs745962568 0.00002
NM_206933.4(USH2A):c.792G>A (p.Glu264=) rs886043440 0.00002
NM_213599.3(ANO5):c.1689T>C (p.Phe563=) rs527322470 0.00002
NC_000002.12:g.178728782T>C rs1025136671 0.00001
NC_000007.14:g.24744705G>A rs754443945 0.00001
NM_000020.3(ACVRL1):c.303G>A (p.Leu101=) rs376417482 0.00001
NM_000051.4(ATM):c.2377-6T>A rs876660963 0.00001
NM_000051.4(ATM):c.2922-8T>A rs545892367 0.00001
NM_000051.4(ATM):c.8987+3G>A rs56360226 0.00001
NM_000053.4(ATP7B):c.3786C>T (p.Val1262=) rs375007352 0.00001
NM_000059.4(BRCA2):c.3880T>C (p.Leu1294=) rs786201236 0.00001
NM_000059.4(BRCA2):c.6288T>G (p.Pro2096=) rs372527810 0.00001
NM_000059.4(BRCA2):c.6877T>C (p.Phe2293Leu) rs80358912 0.00001
NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile) rs80359127 0.00001
NM_000070.3(CAPN3):c.1650T>C (p.Pro550=) rs766405190 0.00001
NM_000079.4(CHRNA1):c.204G>A (p.Gln68=) rs886043372 0.00001
NM_000082.4(ERCC8):c.-3G>A rs199968351 0.00001
NM_000082.4(ERCC8):c.42C>T (p.Asp14=) rs886043215 0.00001
NM_000082.4(ERCC8):c.637T>C (p.Leu213=) rs752757232 0.00001
NM_000088.4(COL1A1):c.2715C>T (p.Gly905=) rs779337831 0.00001
NM_000088.4(COL1A1):c.3060C>T (p.Ala1020=) rs751239116 0.00001
NM_000088.4(COL1A1):c.3207+8G>T rs866785621 0.00001
NM_000088.4(COL1A1):c.3906C>T (p.Pro1302=) rs188887858 0.00001
NM_000089.4(COL1A2):c.2944-4A>T rs143220941 0.00001
NM_000090.4(COL3A1):c.792A>G (p.Gly264=) rs113304344 0.00001
NM_000092.5(COL4A4):c.264A>G (p.Ser88=) rs746574978 0.00001
NM_000093.5(COL5A1):c.1752G>A (p.Glu584=) rs376865199 0.00001
NM_000093.5(COL5A1):c.2593-3C>T rs199895142 0.00001
NM_000095.3(COMP):c.1110G>A (p.Ala370=) rs780972997 0.00001
NM_000117.3(EMD):c.149C>A (p.Pro50His) rs782021157 0.00001
NM_000117.3(EMD):c.385G>A (p.Ala129Thr) rs782768362 0.00001
NM_000124.4(ERCC6):c.1452C>T (p.Asp484=) rs762734699 0.00001
NM_000124.4(ERCC6):c.1888T>C (p.Leu630=) rs747204355 0.00001
NM_000124.4(ERCC6):c.813C>T (p.Phe271=) rs764319566 0.00001
NM_000137.4(FAH):c.237G>A (p.Lys79=) rs1490117712 0.00001
NM_000142.5(FGFR3):c.1263A>G (p.Arg421=) rs866774930 0.00001
NM_000142.5(FGFR3):c.150C>T (p.Val50=) rs750641928 0.00001
NM_000142.5(FGFR3):c.666C>T (p.Asp222=) rs201081464 0.00001
NM_000152.5(GAA):c.1047C>T (p.Ser349=) rs138262940 0.00001
NM_000152.5(GAA):c.1347G>A (p.Ser449=) rs756938942 0.00001
NM_000152.5(GAA):c.1410C>T (p.Asn470=) rs886043068 0.00001
NM_000152.5(GAA):c.1842G>A (p.Thr614=) rs373955374 0.00001
NM_000152.5(GAA):c.2391C>T (p.Ala797=) rs767494597 0.00001
NM_000152.5(GAA):c.444C>T (p.Tyr148=) rs886043112 0.00001
NM_000152.5(GAA):c.615G>A (p.Pro205=) rs141427808 0.00001
NM_000152.5(GAA):c.692+9T>C rs367661167 0.00001
NM_000152.5(GAA):c.702G>A (p.Thr234=) rs755337511 0.00001
NM_000152.5(GAA):c.834G>A (p.Leu278=) rs776314424 0.00001
NM_000152.5(GAA):c.900G>A (p.Ala300=) rs759425304 0.00001
NM_000155.4(GALT):c.564+7G>A rs760189807 0.00001
NM_000163.5(GHR):c.1686A>G (p.Gln562=) rs145428904 0.00001
NM_000169.3(GLA):c.247G>A (p.Asp83Asn) rs782722577 0.00001
NM_000179.3(MSH6):c.742C>G (p.Arg248Gly) rs63749980 0.00001
NM_000180.4(GUCY2D):c.1851G>A (p.Val617=) rs754581545 0.00001
NM_000214.3(JAG1):c.1101C>T (p.Thr367=) rs766771784 0.00001
NM_000214.3(JAG1):c.1704C>T (p.Arg568=) rs144985667 0.00001
NM_000214.3(JAG1):c.1866G>A (p.Thr622=) rs140624746 0.00001
NM_000214.3(JAG1):c.1971C>T (p.Asp657=) rs368661822 0.00001
NM_000214.3(JAG1):c.2148C>T (p.Asn716=) rs550565756 0.00001
NM_000214.3(JAG1):c.2451C>T (p.Cys817=) rs747532570 0.00001
NM_000214.3(JAG1):c.2739C>T (p.Ser913=) rs766479402 0.00001
NM_000214.3(JAG1):c.3342C>T (p.Asn1114=) rs759853433 0.00001
NM_000214.3(JAG1):c.702C>T (p.Cys234=) rs202109974 0.00001
NM_000214.3(JAG1):c.915G>A (p.Pro305=) rs371165309 0.00001
NM_000231.3(SGCG):c.1-8C>T rs745599370 0.00001
NM_000231.3(SGCG):c.267A>G (p.Pro89=) rs149595403 0.00001
NM_000235.4(LIPA):c.1056C>T (p.Asp352=) rs1564748504 0.00001
NM_000235.4(LIPA):c.1128C>T (p.Asp376=) rs200420117 0.00001
NM_000235.4(LIPA):c.279T>C (p.Ser93=) rs1011619050 0.00001
NM_000235.4(LIPA):c.870G>A (p.Val290=) rs756950169 0.00001
NM_000249.4(MLH1):c.222T>C (p.Asp74=) rs755073786 0.00001
NM_000251.3(MSH2):c.-9G>C rs547444746 0.00001
NM_000257.4(MYH7):c.2472C>T (p.Val824=) rs397516150 0.00001
NM_000257.4(MYH7):c.4680G>A (p.Arg1560=) rs771236158 0.00001
NM_000260.4(MYO7A):c.2025C>T (p.Arg675=) rs797044658 0.00001
NM_000260.4(MYO7A):c.3582C>T (p.Leu1194=) rs886044828 0.00001
NM_000260.4(MYO7A):c.3927G>T (p.Val1309=) rs181729570 0.00001
NM_000260.4(MYO7A):c.4441+8G>A rs766743441 0.00001
NM_000271.5(NPC1):c.3478-7A>C rs767148121 0.00001
NM_000271.5(NPC1):c.3816C>T (p.Arg1272=) rs375797728 0.00001
NM_000285.4(PEPD):c.969T>C (p.Gly323=) rs1568445341 0.00001
NM_000287.4(PEX6):c.348C>T (p.Leu116=) rs746578841 0.00001
NM_000295.5(SERPINA1):c.1065+10C>T rs56388024 0.00001
NM_000295.5(SERPINA1):c.646+5_646+6del rs779432340 0.00001
NM_000318.3(PEX2):c.825C>T (p.Asp275=) rs367649632 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_000337.6(SGCD):c.270C>T (p.Tyr90=) rs749273088 0.00001
NM_000337.6(SGCD):c.45T>A (p.Pro15=) rs727505092 0.00001
NM_000337.6(SGCD):c.768G>A (p.Thr256=) rs376141942 0.00001
NM_000350.3(ABCA4):c.3576C>T (p.Val1192=) rs187965758 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_000368.5(TSC1):c.1084C>T (p.Pro362Ser) rs397514864 0.00001
NM_000368.5(TSC1):c.1775C>T (p.Thr592Met) rs775869914 0.00001
NM_000368.5(TSC1):c.947G>A (p.Arg316Gln) rs375956049 0.00001
NM_000388.4(CASR):c.3132G>A (p.Val1044=) rs755277801 0.00001
NM_000388.4(CASR):c.888C>T (p.Ser296=) rs759988398 0.00001
NM_000392.5(ABCC2):c.2095-7C>T rs774902843 0.00001
NM_000392.5(ABCC2):c.2700C>T (p.Ser900=) rs1184984382 0.00001
NM_000392.5(ABCC2):c.330A>G (p.Thr110=) rs750755532 0.00001
NM_000392.5(ABCC2):c.3591C>G (p.Val1197=) rs774159224 0.00001
NM_000392.5(ABCC2):c.3873G>A (p.Pro1291=) rs765304225 0.00001
NM_000392.5(ABCC2):c.4398G>A (p.Ala1466=) rs780515921 0.00001
NM_000392.5(ABCC2):c.855T>C (p.Asp285=) rs769700101 0.00001
NM_000414.4(HSD17B4):c.1210-11C>G rs779466683 0.00001
NM_000430.4(PAFAH1B1):c.569-4T>G rs765106555 0.00001
NM_000443.4(ABCB4):c.1119+8A>C rs1471180323 0.00001
NM_000443.4(ABCB4):c.1233C>A (p.Ile411=) rs916276498 0.00001
NM_000443.4(ABCB4):c.174G>A (p.Ser58=) rs772771936 0.00001
NM_000443.4(ABCB4):c.240G>A (p.Glu80=) rs8187787 0.00001
NM_000443.4(ABCB4):c.2730C>T (p.Thr910=) rs978222245 0.00001
NM_000443.4(ABCB4):c.3033T>C (p.Phe1011=) rs1297237099 0.00001
NM_000443.4(ABCB4):c.3258C>T (p.Tyr1086=) rs1435564748 0.00001
NM_000443.4(ABCB4):c.3633+9G>A rs1554396917 0.00001
NM_000443.4(ABCB4):c.3816C>T (p.Val1272=) rs1029350022 0.00001
NM_000451.4(SHOX):c.723C>T (p.Phe241=) rs886042718 0.00001
NM_000452.3(SLC10A2):c.753C>G (p.Pro251=) rs1172213655 0.00001
NM_000455.5(STK11):c.579C>T (p.Ser193=) rs730881961 0.00001
NM_000458.4(HNF1B):c.96G>A (p.Glu32=) rs778229703 0.00001
NM_000463.3(UGT1A1):c.1161C>T (p.Pro387=) rs763217521 0.00001
NM_000466.3(PEX1):c.3633T>C (p.Ser1211=) rs753334806 0.00001
NM_000487.6(ARSA):c.1211-10C>T rs398123413 0.00001
NM_000492.4(CFTR):c.1047G>A (p.Ala349=) rs200520623 0.00001
NM_000492.4(CFTR):c.164+12T>C rs121908790 0.00001
NM_000492.4(CFTR):c.2055A>G (p.Gln685=) rs1457520634 0.00001
NM_000492.4(CFTR):c.3036A>G (p.Gln1012=) rs537934752 0.00001
NM_000492.4(CFTR):c.3588A>T (p.Ser1196=) rs759202870 0.00001
NM_000493.4(COL10A1):c.1392G>A (p.Gly464=) rs886042553 0.00001
NM_000540.3(RYR1):c.11811G>A (p.Ser3937=) rs794727946 0.00001
NM_000540.3(RYR1):c.2037C>A (p.Thr679=) rs571569206 0.00001
NM_000540.3(RYR1):c.4230C>T (p.Leu1410=) rs750872878 0.00001
NM_000540.3(RYR1):c.5484C>T (p.Asp1828=) rs775744847 0.00001
NM_000540.3(RYR1):c.5736G>A (p.Glu1912=) rs753416949 0.00001
NM_000540.3(RYR1):c.624C>T (p.Cys208=) rs746914281 0.00001
NM_000540.3(RYR1):c.7608G>A (p.Leu2536=) rs201686887 0.00001
NM_000543.5(SMPD1):c.1341-9T>C rs528939343 0.00001
NM_000543.5(SMPD1):c.1529C>T (p.Ser510Phe) rs200652683 0.00001
NM_000543.5(SMPD1):c.1692C>T (p.Gly564=) rs369787650 0.00001
NM_000543.5(SMPD1):c.319-5T>C rs958654789 0.00001
NM_000548.5(TSC2):c.1134G>A (p.Pro378=) rs754343186 0.00001
NM_000548.5(TSC2):c.2823C>T (p.Asn941=) rs750806272 0.00001
NM_000548.5(TSC2):c.3366T>C (p.Arg1122=) rs778352969 0.00001
NM_000548.5(TSC2):c.3918C>T (p.Gly1306=) rs368712041 0.00001
NM_000548.5(TSC2):c.5332G>A (p.Ala1778Thr) rs1245934608 0.00001
NM_000548.5(TSC2):c.576C>T (p.Asp192=) rs761704292 0.00001
NM_000548.5(TSC2):c.849-8A>G rs765336852 0.00001
NM_000557.5(GDF5):c.1299C>T (p.Cys433=) rs886042958 0.00001
NM_000719.7(CACNA1C):c.1218-6C>T rs727503833 0.00001
NM_000719.7(CACNA1C):c.3375C>T (p.Ile1125=) rs398123521 0.00001
NM_000719.7(CACNA1C):c.363C>T (p.Val121=) rs886042281 0.00001
NM_000719.7(CACNA1C):c.5202C>T (p.Gly1734=) rs769124319 0.00001
NM_000719.7(CACNA1C):c.6090C>T (p.His2030=) rs750835120 0.00001
NM_000719.7(CACNA1C):c.6338A>C (p.Asp2113Ala) rs972053240 0.00001
NM_000742.4(CHRNA2):c.873C>T (p.Ser291=) rs76140563 0.00001
NM_000744.7(CHRNA4):c.1634C>T (p.Thr545Met) rs121912282 0.00001
NM_000780.4(CYP7A1):c.157C>T (p.Leu53Phe) rs189424028 0.00001
NM_000784.4(CYP27A1):c.126A>G (p.Gly42=) rs1238340088 0.00001
NM_000784.4(CYP27A1):c.1503G>A (p.Leu501=) rs1336081746 0.00001
NM_000784.4(CYP27A1):c.256-3C>T rs1559391389 0.00001
NM_000784.4(CYP27A1):c.699C>A (p.Ile233=) rs1178297854 0.00001
NM_000823.4(GHRHR):c.870C>T (p.Val290=) rs369716383 0.00001
NM_000843.4(GRM6):c.1695G>A (p.Thr565=) rs794727907 0.00001
NM_000875.5(IGF1R):c.318C>T (p.Ile106=) rs1267154320 0.00001
NM_000883.4(IMPDH1):c.159C>T (p.Asp53=) rs768265149 0.00001
NM_001005361.3(DNM2):c.216G>A (p.Gln72=) rs368075301 0.00001
NM_001017420.3(ESCO2):c.738A>G (p.Val246=) rs886044291 0.00001
NM_001035.3(RYR2):c.13665C>T (p.Ile4555=) rs375213838 0.00001
NM_001035.3(RYR2):c.1527C>T (p.Ser509=) rs886042568 0.00001
NM_001035.3(RYR2):c.4752G>A (p.Pro1584=) rs780111656 0.00001
NM_001037.5(SCN1B):c.273G>A (p.Val91=) rs16969926 0.00001
NM_001040142.2(SCN2A):c.2016+10A>G rs886042771 0.00001
NM_001040142.2(SCN2A):c.5427G>A (p.Ala1809=) rs1177406324 0.00001
NM_001042472.3(ABHD12):c.317-10T>A rs768757901 0.00001
NM_001042472.3(ABHD12):c.66C>T (p.Ser22=) rs1261172926 0.00001
NM_001077365.2(POMT1):c.1443C>T (p.His481=) rs139415150 0.00001
NM_001077365.2(POMT1):c.1647G>A (p.Glu549=) rs757830349 0.00001
NM_001077365.2(POMT1):c.345G>A (p.Ser115=) rs147212285 0.00001
NM_001079802.2(FKTN):c.180A>G (p.Lys60=) rs886042513 0.00001
NM_001079802.2(FKTN):c.198C>G (p.Ser66=) rs367868644 0.00001
NM_001079802.2(FKTN):c.21C>T (p.Asn7=) rs564632018 0.00001
NM_001079802.2(FKTN):c.342A>G (p.Ala114=) rs368598407 0.00001
NM_001079802.2(FKTN):c.357A>G (p.Leu119=) rs760933616 0.00001
NM_001079802.2(FKTN):c.706A>G (p.Met236Val) rs886042241 0.00001
NM_001083961.2(WDR62):c.2040T>C (p.His680=) rs765451882 0.00001
NM_001083961.2(WDR62):c.525C>T (p.Tyr175=) rs779093591 0.00001
NM_001099922.3(ALG13):c.2607G>A (p.Ala869=) rs746842727 0.00001
NM_001101426.4(CRPPA):c.645A>G (p.Gln215=) rs532057629 0.00001
NM_001101426.4(CRPPA):c.840A>G (p.Arg280=) rs148054819 0.00001
NM_001110556.2(FLNA):c.2472C>T (p.Phe824=) rs782669943 0.00001
NM_001110556.2(FLNA):c.2826+7A>G rs782545599 0.00001
NM_001110556.2(FLNA):c.7013C>G (p.Ser2338Cys) rs781878646 0.00001
NM_001110556.2(FLNA):c.7172G>A (p.Arg2391His) rs727503930 0.00001
NM_001110792.2(MECP2):c.1440G>A (p.Arg480=) rs267608633 0.00001
NM_001110792.2(MECP2):c.474C>T (p.Gly158=) rs61748386 0.00001
NM_001114753.3(ENG):c.1572C>T (p.Pro524=) rs760682477 0.00001
NM_001126121.2(SLC25A19):c.590G>T (p.Ser197Ile) rs769399113 0.00001
NM_001127222.2(CACNA1A):c.5316G>A (p.Lys1772=) rs886043622 0.00001
NM_001127222.2(CACNA1A):c.5685C>T (p.Thr1895=) rs757291476 0.00001
NM_001127222.2(CACNA1A):c.6372A>G (p.Ser2124=) rs760994682 0.00001
NM_001127671.2(LIFR):c.1485T>C (p.Ala495=) rs759537735 0.00001
NM_001128178.3(NPHP1):c.102A>G (p.Lys34=) rs763004817 0.00001
NM_001130438.3(SPTAN1):c.3720-7C>T rs773023641 0.00001
NM_001130438.3(SPTAN1):c.5245G>A (p.Gly1749Arg) rs771886198 0.00001
NM_001130823.3(DNMT1):c.2835C>T (p.Asn945=) rs539948794 0.00001
NM_001130987.2(DYSF):c.1577-10T>C rs371967475 0.00001
NM_001130987.2(DYSF):c.4149G>A (p.Thr1383=) rs566381009 0.00001
NM_001130987.2(DYSF):c.4188C>T (p.Pro1396=) rs774464702 0.00001
NM_001130987.2(DYSF):c.4261G>A (p.Val1421Ile) rs767049254 0.00001
NM_001130987.2(DYSF):c.5427C>G (p.Leu1809=) rs763198861 0.00001
NM_001130987.2(DYSF):c.606G>A (p.Ala202=) rs398123791 0.00001
NM_001130987.2(DYSF):c.6174-8G>A rs777167646 0.00001
NM_001134363.3(RBM20):c.2514T>C (p.Ala838=) rs794727966 0.00001
NM_001134407.3(GRIN2A):c.1069G>A (p.Val357Met) rs78929970 0.00001
NM_001134407.3(GRIN2A):c.678C>T (p.Val226=) rs1567187672 0.00001
NM_001142800.2(EYS):c.5487A>G (p.Lys1829=) rs373872866 0.00001
NM_001159699.2(FHL1):c.88T>C (p.Leu30=) rs1313810606 0.00001
NM_001161352.2(KCNMA1):c.1305C>T (p.Asp435=) rs201999021 0.00001
NM_001164277.2(SLC37A4):c.786-7A>G rs781887799 0.00001
NM_001165963.4(SCN1A):c.3120G>T (p.Arg1040Ser) rs1373733895 0.00001
NM_001165963.4(SCN1A):c.3176A>T (p.Asp1059Val) rs779306054 0.00001
NM_001165963.4(SCN1A):c.5532A>G (p.Pro1844=) rs886043063 0.00001
NM_001165963.4(SCN1A):c.852T>C (p.Asn284=) rs748747434 0.00001
NM_001165963.4(SCN1A):c.90A>G (p.Ala30=) rs750748658 0.00001
NM_001170629.2(CHD8):c.5141T>C (p.Met1714Thr) rs369748510 0.00001
NM_001173467.3(SP7):c.63G>A (p.Thr21=) rs542641721 0.00001
NM_001177316.2(SLC34A3):c.945C>T (p.Gly315=) rs915920618 0.00001
NM_001182.5(ALDH7A1):c.387A>C (p.Gly129=) rs1467521069 0.00001
NM_001184880.2(PCDH19):c.1401G>T (p.Thr467=) rs794726896 0.00001
NM_001184880.2(PCDH19):c.228C>T (p.Pro76=) rs794726898 0.00001
NM_001184880.2(PCDH19):c.2496C>T (p.Phe832=) rs774555485 0.00001
NM_001184880.2(PCDH19):c.3057G>A (p.Gly1019=) rs886043091 0.00001
NM_001189.4(NKX3-2):c.873A>G (p.Arg291=) rs921673580 0.00001
NM_001191061.2(SLC25A22):c.379C>T (p.Leu127=) rs746201051 0.00001
NM_001193315.2(VIPAS39):c.1221C>T (p.Phe407=) rs886044709 0.00001
NM_001193315.2(VIPAS39):c.1266+5T>C rs762123926 0.00001
NM_001193315.2(VIPAS39):c.1356+8C>T rs988006454 0.00001
NM_001199107.2(TBC1D24):c.972A>C (p.Ser324=) rs886043654 0.00001
NM_001206979.2(NR1H4):c.1353C>T (p.His451=) rs574925287 0.00001
NM_001206979.2(NR1H4):c.750C>T (p.Thr250=) rs1322754256 0.00001
NM_001252024.2(TRPM1):c.435C>A (p.Gly145=) rs774819442 0.00001
NM_001267550.2(TTN):c.100167A>G (p.Pro33389=) rs778478048 0.00001
NM_001267550.2(TTN):c.100629T>C (p.Tyr33543=) rs772935423 0.00001
NM_001267550.2(TTN):c.101532A>G (p.Thr33844=) rs776839796 0.00001
NM_001267550.2(TTN):c.102025T>C (p.Leu34009=) rs794727543 0.00001
NM_001267550.2(TTN):c.102562G>A (p.Glu34188Lys) rs577667352 0.00001
NM_001267550.2(TTN):c.102963C>T (p.Asn34321=) rs528502993 0.00001
NM_001267550.2(TTN):c.103207C>T (p.Leu34403=) rs773892755 0.00001
NM_001267550.2(TTN):c.103576G>C (p.Glu34526Gln) rs770742837 0.00001
NM_001267550.2(TTN):c.103787G>A (p.Arg34596His) rs762235688 0.00001
NM_001267550.2(TTN):c.104457C>T (p.Tyr34819=) rs548677252 0.00001
NM_001267550.2(TTN):c.105852C>G (p.Ala35284=) rs776786546 0.00001
NM_001267550.2(TTN):c.105999G>A (p.Gln35333=) rs764231632 0.00001
NM_001267550.2(TTN):c.107200G>A (p.Glu35734Lys) rs374992991 0.00001
NM_001267550.2(TTN):c.107832G>A (p.Arg35944=) rs759154562 0.00001
NM_001267550.2(TTN):c.12387G>A (p.Arg4129=) rs199546417 0.00001
NM_001267550.2(TTN):c.13365A>G (p.Val4455=) rs956041710 0.00001
NM_001267550.2(TTN):c.13872C>T (p.His4624=) rs765700138 0.00001
NM_001267550.2(TTN):c.1452T>C (p.Asp484=) rs746610206 0.00001
NM_001267550.2(TTN):c.16078A>G (p.Thr5360Ala) rs749081117 0.00001
NM_001267550.2(TTN):c.16159A>C (p.Arg5387=) rs371501460 0.00001
NM_001267550.2(TTN):c.16530T>C (p.Tyr5510=) rs970449071 0.00001
NM_001267550.2(TTN):c.17082G>T (p.Leu5694=) rs750996600 0.00001
NM_001267550.2(TTN):c.17227C>T (p.Arg5743Trp) rs377193479 0.00001
NM_001267550.2(TTN):c.17280G>A (p.Thr5760=) rs748617936 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.21003A>G (p.Lys7001=) rs727504579 0.00001
NM_001267550.2(TTN):c.210G>T (p.Val70=) rs746033038 0.00001
NM_001267550.2(TTN):c.23091A>G (p.Thr7697=) rs1198504900 0.00001
NM_001267550.2(TTN):c.23178G>A (p.Ser7726=) rs753546095 0.00001
NM_001267550.2(TTN):c.23352G>A (p.Thr7784=) rs745476881 0.00001
NM_001267550.2(TTN):c.2535G>T (p.Glu845Asp) rs768608500 0.00001
NM_001267550.2(TTN):c.2629C>A (p.Pro877Thr) rs751640052 0.00001
NM_001267550.2(TTN):c.267G>A (p.Ala89=) rs577716745 0.00001
NM_001267550.2(TTN):c.27198C>G (p.Asn9066Lys) rs369529493 0.00001
NM_001267550.2(TTN):c.27914G>A (p.Arg9305Gln) rs397517527 0.00001
NM_001267550.2(TTN):c.2916G>A (p.Pro972=) rs757569345 0.00001
NM_001267550.2(TTN):c.3011A>C (p.Glu1004Ala) rs1413214135 0.00001
NM_001267550.2(TTN):c.30224-7T>G rs778458915 0.00001
NM_001267550.2(TTN):c.31321G>A (p.Glu10441Lys) rs901197333 0.00001
NM_001267550.2(TTN):c.31846+5A>G rs760788961 0.00001
NM_001267550.2(TTN):c.32470+4T>C rs1390842582 0.00001
NM_001267550.2(TTN):c.33248-8C>G rs766957102 0.00001
NM_001267550.2(TTN):c.34575C>T (p.Ile11525=) rs537187311 0.00001
NM_001267550.2(TTN):c.3670T>C (p.Leu1224=) rs764873258 0.00001
NM_001267550.2(TTN):c.39473T>C (p.Val13158Ala) rs1553769611 0.00001
NM_001267550.2(TTN):c.39895+7A>G rs1299824475 0.00001
NM_001267550.2(TTN):c.40558G>A (p.Val13520Ile) rs587780488 0.00001
NM_001267550.2(TTN):c.40800C>A (p.Ile13600=) rs879111430 0.00001
NM_001267550.2(TTN):c.41778T>C (p.Asp13926=) rs766397292 0.00001
NM_001267550.2(TTN):c.42613T>C (p.Leu14205=) rs747480084 0.00001
NM_001267550.2(TTN):c.43565A>G (p.His14522Arg) rs374085402 0.00001
NM_001267550.2(TTN):c.43623G>A (p.Ser14541=) rs369434563 0.00001
NM_001267550.2(TTN):c.43716G>T (p.Gly14572=) rs200065187 0.00001
NM_001267550.2(TTN):c.43748-7C>T rs771927358 0.00001
NM_001267550.2(TTN):c.43836A>G (p.Ala14612=) rs755492644 0.00001
NM_001267550.2(TTN):c.43987A>C (p.Lys14663Gln) rs1271800091 0.00001
NM_001267550.2(TTN):c.44112C>T (p.His14704=) rs754693395 0.00001
NM_001267550.2(TTN):c.44599G>A (p.Gly14867Arg) rs144848584 0.00001
NM_001267550.2(TTN):c.4641G>T (p.Val1547=) rs1012929202 0.00001
NM_001267550.2(TTN):c.46899G>A (p.Gly15633=) rs727504195 0.00001
NM_001267550.2(TTN):c.47258G>A (p.Arg15753Lys) rs577133803 0.00001
NM_001267550.2(TTN):c.48330T>C (p.Thr16110=) rs557105262 0.00001
NM_001267550.2(TTN):c.48960T>C (p.Asp16320=) rs1057523898 0.00001
NM_001267550.2(TTN):c.4981A>G (p.Ile1661Val) rs749438439 0.00001
NM_001267550.2(TTN):c.5022C>G (p.Ala1674=) rs753444772 0.00001
NM_001267550.2(TTN):c.50835T>C (p.Asn16945=) rs750172128 0.00001
NM_001267550.2(TTN):c.51099C>T (p.Leu17033=) rs755994820 0.00001
NM_001267550.2(TTN):c.51231C>A (p.Thr17077=) rs779518431 0.00001
NM_001267550.2(TTN):c.52144A>G (p.Arg17382Gly) rs397517607 0.00001
NM_001267550.2(TTN):c.52323C>T (p.Tyr17441=) rs749855424 0.00001
NM_001267550.2(TTN):c.52374T>C (p.Val17458=) rs752571545 0.00001
NM_001267550.2(TTN):c.52920C>T (p.Tyr17640=) rs1553687219 0.00001
NM_001267550.2(TTN):c.53625A>G (p.Thr17875=) rs373277508 0.00001
NM_001267550.2(TTN):c.55290C>T (p.Pro18430=) rs777904054 0.00001
NM_001267550.2(TTN):c.55503G>A (p.Lys18501=) rs879239475 0.00001
NM_001267550.2(TTN):c.55986C>T (p.Val18662=) rs747136342 0.00001
NM_001267550.2(TTN):c.56256G>A (p.Pro18752=) rs111262307 0.00001
NM_001267550.2(TTN):c.57243T>A (p.Ile19081=) rs1185555417 0.00001
NM_001267550.2(TTN):c.5739C>T (p.Thr1913=) rs530291008 0.00001
NM_001267550.2(TTN):c.58191G>A (p.Thr19397=) rs370091658 0.00001
NM_001267550.2(TTN):c.58653T>C (p.Ile19551=) rs727504980 0.00001
NM_001267550.2(TTN):c.59502T>C (p.Asp19834=) rs972823319 0.00001
NM_001267550.2(TTN):c.60342C>T (p.Thr20114=) rs529529087 0.00001
NM_001267550.2(TTN):c.61355T>A (p.Ile20452Asn) rs375946418 0.00001
NM_001267550.2(TTN):c.61962C>T (p.Ile20654=) rs369710636 0.00001
NM_001267550.2(TTN):c.6243C>T (p.Phe2081=) rs770052197 0.00001
NM_001267550.2(TTN):c.6406T>C (p.Leu2136=) rs765377738 0.00001
NM_001267550.2(TTN):c.6423G>A (p.Val2141=) rs768989325 0.00001
NM_001267550.2(TTN):c.64785T>C (p.Tyr21595=) rs751009684 0.00001
NM_001267550.2(TTN):c.65514C>T (p.Thr21838=) rs372543748 0.00001
NM_001267550.2(TTN):c.65629G>T (p.Ala21877Ser) rs72646866 0.00001
NM_001267550.2(TTN):c.66423C>T (p.Pro22141=) rs1322620894 0.00001
NM_001267550.2(TTN):c.6690C>T (p.Phe2230=) rs755122338 0.00001
NM_001267550.2(TTN):c.68195C>T (p.Ser22732Leu) rs727505352 0.00001
NM_001267550.2(TTN):c.68997C>A (p.Thr22999=) rs369068922 0.00001
NM_001267550.2(TTN):c.69639T>C (p.Arg23213=) rs1487392148 0.00001
NM_001267550.2(TTN):c.7173C>T (p.Asp2391=) rs374509926 0.00001
NM_001267550.2(TTN):c.71881G>A (p.Val23961Ile) rs397517690 0.00001
NM_001267550.2(TTN):c.72552C>T (p.Val24184=) rs727504187 0.00001
NM_001267550.2(TTN):c.72630A>G (p.Glu24210=) rs1384344292 0.00001
NM_001267550.2(TTN):c.73224G>A (p.Gly24408=) rs371034493 0.00001
NM_001267550.2(TTN):c.74331C>T (p.Asp24777=) rs368530092 0.00001
NM_001267550.2(TTN):c.74763C>T (p.Ser24921=) rs371563258 0.00001
NM_001267550.2(TTN):c.75364G>A (p.Val25122Met) rs376821762 0.00001
NM_001267550.2(TTN):c.76124A>T (p.Tyr25375Phe) rs374494927 0.00001
NM_001267550.2(TTN):c.77037T>C (p.Asn25679=) rs372800320 0.00001
NM_001267550.2(TTN):c.77166T>C (p.Pro25722=) rs757252494 0.00001
NM_001267550.2(TTN):c.78372T>C (p.Ile26124=) rs886044461 0.00001
NM_001267550.2(TTN):c.7902C>T (p.Ser2634=) rs1553997365 0.00001
NM_001267550.2(TTN):c.795C>T (p.Ser265=) rs780802517 0.00001
NM_001267550.2(TTN):c.8013C>A (p.Gly2671=) rs369439944 0.00001
NM_001267550.2(TTN):c.80841T>C (p.Phe26947=) rs1015506783 0.00001
NM_001267550.2(TTN):c.82526G>A (p.Arg27509Gln) rs1246168127 0.00001
NM_001267550.2(TTN):c.82539C>T (p.Gly27513=) rs775673876 0.00001
NM_001267550.2(TTN):c.83017C>A (p.Pro27673Thr) rs769343491 0.00001
NM_001267550.2(TTN):c.83526T>G (p.Ala27842=) rs539533062 0.00001
NM_001267550.2(TTN):c.84157C>T (p.Leu28053Phe) rs1194981313 0.00001
NM_001267550.2(TTN):c.84696A>C (p.Glu28232Asp) rs397517730 0.00001
NM_001267550.2(TTN):c.85746A>C (p.Ile28582=) rs771116739 0.00001
NM_001267550.2(TTN):c.85953A>G (p.Leu28651=) rs546573613 0.00001
NM_001267550.2(TTN):c.86085C>T (p.Asp28695=) rs773001228 0.00001
NM_001267550.2(TTN):c.87081A>G (p.Arg29027=) rs886042694 0.00001
NM_001267550.2(TTN):c.87345T>C (p.Tyr29115=) rs369444690 0.00001
NM_001267550.2(TTN):c.88983C>T (p.Gly29661=) rs371678936 0.00001
NM_001267550.2(TTN):c.90180C>T (p.Ser30060=) rs1171957663 0.00001
NM_001267550.2(TTN):c.9108T>C (p.Ala3036=) rs886044544 0.00001
NM_001267550.2(TTN):c.91224C>T (p.Ser30408=) rs1057522835 0.00001
NM_001267550.2(TTN):c.918C>T (p.Ser306=) rs773898647 0.00001
NM_001267550.2(TTN):c.92951A>G (p.Glu30984Gly) rs770525487 0.00001
NM_001267550.2(TTN):c.95232C>T (p.Ile31744=) rs267599026 0.00001
NM_001267550.2(TTN):c.95649G>A (p.Val31883=) rs1553520236 0.00001
NM_001267550.2(TTN):c.95686G>A (p.Glu31896Lys) rs745365163 0.00001
NM_001267550.2(TTN):c.9714G>A (p.Pro3238=) rs886042397 0.00001
NM_001267550.2(TTN):c.97294C>T (p.Leu32432=) rs72648267 0.00001
NM_001267550.2(TTN):c.97418G>A (p.Arg32473His) rs397517770 0.00001
NM_001267550.2(TTN):c.97673G>A (p.Arg32558Gln) rs369237346 0.00001
NM_001267550.2(TTN):c.97742G>T (p.Gly32581Val) rs397517771 0.00001
NM_001267550.2(TTN):c.97947G>C (p.Lys32649Asn) rs773776767 0.00001
NM_001267550.2(TTN):c.98151G>A (p.Arg32717=) rs757402291 0.00001
NM_001267550.2(TTN):c.98465A>G (p.Asp32822Gly) rs191054704 0.00001
NM_001267550.2(TTN):c.98781T>C (p.Ser32927=) rs750855113 0.00001
NM_001267550.2(TTN):c.98919C>T (p.Ile32973=) rs776133124 0.00001
NM_001267550.2(TTN):c.99990A>G (p.Lys33330=) rs749702063 0.00001
NM_001278116.2(L1CAM):c.1880C>T (p.Thr627Met) rs398123360 0.00001
NM_001278431.2(C1QTNF5):c.306G>A (p.Pro102=) rs751346951 0.00001
NM_001291415.2(KDM6A):c.4208G>A (p.Arg1403Gln) rs370765411 0.00001
NM_001292063.2(OTOG):c.7268-7T>A rs911853347 0.00001
NM_001292063.2(OTOG):c.7995C>T (p.Cys2665=) rs200809116 0.00001
NM_001297.5(CNGB1):c.705C>T (p.Pro235=) rs748140894 0.00001
NM_001298.3(CNGA3):c.1831C>T (p.Leu611=) rs747855074 0.00001
NM_001323289.2(CDKL5):c.2152+10C>G rs763466606 0.00001
NM_001330078.2(NRXN1):c.1326A>C (p.Val442=) rs201485014 0.00001
NM_001330078.2(NRXN1):c.3042C>T (p.Thr1014=) rs75137449 0.00001
NM_001330078.2(NRXN1):c.3071-10C>T rs398123573 0.00001
NM_001330078.2(NRXN1):c.3245-4G>T rs1057520338 0.00001
NM_001330078.2(NRXN1):c.3364+3A>G rs762891600 0.00001
NM_001330260.2(SCN8A):c.2733C>T (p.Asp911=) rs763201344 0.00001
NM_001330260.2(SCN8A):c.929-4C>G rs771227940 0.00001
NM_001360.3(DHCR7):c.831+7G>A rs1318919210 0.00001
NM_001367624.2(ZNF469):c.2017G>A (p.Ala673Thr) rs770623245 0.00001
NM_001367721.1(CASK):c.1390A>G (p.Thr464Ala) rs886042221 0.00001
NM_001367721.1(CASK):c.159G>T (p.Gly53=) rs761946846 0.00001
NM_001371596.2(MFSD8):c.15G>A (p.Arg5=) rs762559863 0.00001
NM_001374353.1(GLI2):c.765G>A (p.Ser255=) rs200901345 0.00001
NM_001374385.1(ATP8B1):c.1812T>C (p.Ser604=) rs754573787 0.00001
NM_001374385.1(ATP8B1):c.2209+9T>C rs377124910 0.00001
NM_001374385.1(ATP8B1):c.2932-9C>T rs776616431 0.00001
NM_001374385.1(ATP8B1):c.549T>C (p.Asp183=) rs201160977 0.00001
NM_001378120.1(MBD5):c.258C>T (p.Thr86=) rs542137271 0.00001
NM_001378120.1(MBD5):c.4731C>T (p.Ser1577=) rs777735514 0.00001
NM_001378414.1(HDAC4):c.922G>A (p.Gly308Arg) rs551711839 0.00001
NM_001378454.1(ALMS1):c.6827G>A (p.Arg2276Gln) rs200979896 0.00001
NM_001378615.1(CC2D2A):c.1836C>T (p.Pro612=) rs763567590 0.00001
NM_001378615.1(CC2D2A):c.2196C>T (p.Val732=) rs764246302 0.00001
NM_001378615.1(CC2D2A):c.4728C>T (p.Asp1576=) rs774919996 0.00001
NM_001378615.1(CC2D2A):c.541-5G>A rs369022150 0.00001
NM_001379110.1(SLC9A6):c.1380C>T (p.Ser460=) rs782177396 0.00001
NM_001379270.1(CNGA1):c.1560C>T (p.Leu520=) rs775781523 0.00001
NM_001379270.1(CNGA1):c.438-6C>T rs794727950 0.00001
NM_001384140.1(PCDH15):c.189A>G (p.Lys63=) rs1554940478 0.00001
NM_001384474.1(LOXHD1):c.6516C>T (p.Ala2172=) rs886042223 0.00001
NM_001429.4(EP300):c.1453C>A (p.Gln485Lys) rs772407988 0.00001
NM_001457.4(FLNB):c.3144C>T (p.Pro1048=) rs376519914 0.00001
NM_001457.4(FLNB):c.5043G>A (p.Pro1681=) rs886042162 0.00001
NM_001458.5(FLNC):c.3054C>T (p.Gly1018=) rs769624093 0.00001
NM_001458.5(FLNC):c.6441C>T (p.Ile2147=) rs762017885 0.00001
NM_001844.5(COL2A1):c.2286G>A (p.Gly762=) rs371835359 0.00001
NM_001844.5(COL2A1):c.3886G>C (p.Gly1296Arg) rs546672421 0.00001
NM_001844.5(COL2A1):c.3952G>A (p.Glu1318Lys) rs781229123 0.00001
NM_001844.5(COL2A1):c.4326C>T (p.Thr1442=) rs201223454 0.00001
NM_001848.3(COL6A1):c.2643G>A (p.Thr881=) rs372725624 0.00001
NM_001849.4(COL6A2):c.2241G>A (p.Leu747=) rs398123649 0.00001
NM_001849.4(COL6A2):c.2397T>C (p.Asp799=) rs754203636 0.00001
NM_001849.4(COL6A2):c.2841C>T (p.Leu947=) rs532522222 0.00001
NM_001849.4(COL6A2):c.459C>T (p.Thr153=) rs764014106 0.00001
NM_001851.6(COL9A1):c.2562T>C (p.Pro854=) rs1135057 0.00001
NM_001851.6(COL9A1):c.88+7G>C rs755501266 0.00001
NM_001852.4(COL9A2):c.1857C>G (p.Pro619=) rs771660985 0.00001
NM_001852.4(COL9A2):c.846+10C>T rs1045951380 0.00001
NM_001853.4(COL9A3):c.1263C>T (p.Gly421=) rs776017580 0.00001
NM_001853.4(COL9A3):c.72G>A (p.Gly24=) rs777240987 0.00001
NM_001854.4(COL11A1):c.1414-9T>A rs794727062 0.00001
NM_001854.4(COL11A1):c.215C>G (p.Thr72Ser) rs56230601 0.00001
NM_001854.4(COL11A1):c.2610+9T>C rs754222130 0.00001
NM_001854.4(COL11A1):c.2725G>A (p.Asp909Asn) rs779028602 0.00001
NM_001854.4(COL11A1):c.3650C>T (p.Pro1217Leu) rs753649097 0.00001
NM_001854.4(COL11A1):c.4320T>C (p.Pro1440=) rs762511819 0.00001
NM_001854.4(COL11A1):c.4859-3T>C rs774985706 0.00001
NM_001927.4(DES):c.-7C>G rs764966574 0.00001
NM_001927.4(DES):c.1050G>A (p.Arg350=) rs769505280 0.00001
NM_001927.4(DES):c.1180G>A (p.Val394Met) rs776786349 0.00001
NM_001927.4(DES):c.1372-8C>T rs794727968 0.00001
NM_001927.4(DES):c.210G>C (p.Arg70=) rs761255472 0.00001
NM_001927.4(DES):c.218G>A (p.Arg73Gln) rs752518966 0.00001
NM_001927.4(DES):c.822C>T (p.Leu274=) rs763599850 0.00001
NM_001931.5(DLAT):c.423G>A (p.Glu141=) rs781936816 0.00001
NM_001966.4(EHHADH):c.1693C>T (p.Leu565Phe) rs771154497 0.00001
NM_001966.4(EHHADH):c.2078A>G (p.Glu693Gly) rs747498106 0.00001
NM_001999.4(FBN2):c.2013G>A (p.Gly671=) rs778762668 0.00001
NM_002024.6(FMR1):c.1654+10T>A rs782472011 0.00001
NM_002335.4(LRP5):c.1002G>A (p.Arg334=) rs868085658 0.00001
NM_002335.4(LRP5):c.2241G>A (p.Leu747=) rs867927445 0.00001
NM_002335.4(LRP5):c.2463C>T (p.Thr821=) rs778180589 0.00001
NM_002335.4(LRP5):c.480C>T (p.Pro160=) rs377114189 0.00001
NM_002397.5(MEF2C):c.585C>T (p.Asn195=) rs398123686 0.00001
NM_002427.4(MMP13):c.1251G>A (p.Pro417=) rs150203792 0.00001
NM_002437.5(MPV17):c.70+8T>G rs755647054 0.00001
NM_002473.6(MYH9):c.5151-5C>T rs762613036 0.00001
NM_002615.7(SERPINF1):c.510G>A (p.Thr170=) rs765928741 0.00001
NM_002617.4(PEX10):c.194-5C>T rs375032738 0.00001
NM_002617.4(PEX10):c.913-3C>T rs777570617 0.00001
NM_002693.3(POLG):c.114G>T (p.Gly38=) rs794727268 0.00001
NM_002693.3(POLG):c.116A>G (p.Gln39Arg) rs749750052 0.00001
NM_002693.3(POLG):c.129G>A (p.Gln43=) rs570989155 0.00001
NM_002693.3(POLG):c.3258G>A (p.Ser1086=) rs763312940 0.00001
NM_002693.3(POLG):c.330C>T (p.His110=) rs376266682 0.00001
NM_002693.3(POLG):c.522C>G (p.Gly174=) rs766842881 0.00001
NM_002693.3(POLG):c.581C>T (p.Ala194Val) rs779122022 0.00001
NM_002693.3(POLG):c.603C>T (p.Val201=) rs768005050 0.00001
NM_002968.3(SALL1):c.2590G>A (p.Ala864Thr) rs199626036 0.00001
NM_002979.5(SCP2):c.1347A>G (p.Glu449=) rs376582235 0.00001
NM_002979.5(SCP2):c.648T>C (p.Phe216=) rs774694600 0.00001
NM_003001.5(SDHC):c.420A>G (p.Gly140=) rs794727791 0.00001
NM_003073.5(SMARCB1):c.362+8G>A rs727504162 0.00001
NM_003482.4(KMT2D):c.11304T>C (p.Ala3768=) rs771212750 0.00001
NM_003482.4(KMT2D):c.13797G>A (p.Ala4599=) rs727503980 0.00001
NM_003482.4(KMT2D):c.16299C>T (p.Asn5433=) rs975080118 0.00001
NM_003482.4(KMT2D):c.6434C>T (p.Pro2145Leu) rs574231443 0.00001
NM_003482.4(KMT2D):c.6435G>A (p.Pro2145=) rs374077422 0.00001
NM_003482.4(KMT2D):c.7998C>A (p.Asp2666Glu) rs1258008817 0.00001
NM_003482.4(KMT2D):c.8288C>T (p.Pro2763Leu) rs398123762 0.00001
NM_003630.3(PEX3):c.513A>G (p.Leu171=) rs769938240 0.00001
NM_003630.3(PEX3):c.748-4A>G rs1024883914 0.00001
NM_003659.4(AGPS):c.891T>C (p.Cys297=) rs755884284 0.00001
NM_003673.4(TCAP):c.225C>T (p.Gly75=) rs754744780 0.00001
NM_003742.4(ABCB11):c.216T>C (p.His72=) rs1174260635 0.00001
NM_003742.4(ABCB11):c.2457C>A (p.Ala819=) rs1398103963 0.00001
NM_003742.4(ABCB11):c.2490G>A (p.Arg830=) rs775663263 0.00001
NM_003742.4(ABCB11):c.2523G>A (p.Gly841=) rs367874361 0.00001
NM_003742.4(ABCB11):c.2565A>G (p.Gly855=) rs1014304470 0.00001
NM_003742.4(ABCB11):c.2628C>T (p.Ile876=) rs200127070 0.00001
NM_003742.4(ABCB11):c.2655C>T (p.Asn885=) rs756738723 0.00001
NM_003742.4(ABCB11):c.2988T>C (p.Asn996=) rs762824612 0.00001
NM_003742.4(ABCB11):c.3246T>C (p.Asp1082=) rs750944055 0.00001
NM_003742.4(ABCB11):c.3766-10C>T rs369104228 0.00001
NM_003742.4(ABCB11):c.3768G>A (p.Thr1256=) rs773371540 0.00001
NM_003742.4(ABCB11):c.477+8G>T rs745477056 0.00001
NM_003816.3(ADAM9):c.2160G>A (p.Arg720=) rs536279890 0.00001
NM_003835.4(RGS9):c.1645C>T (p.Arg549Cys) rs574696410 0.00001
NM_003846.3(PEX11B):c.192A>G (p.Ser64=) rs781844151 0.00001
NM_003846.3(PEX11B):c.375-7G>A rs1049689144 0.00001
NM_003977.4(AIP):c.345G>C (p.Leu115=) rs996404334 0.00001
NM_004006.3(DMD):c.-5T>C rs794726910 0.00001
NM_004006.3(DMD):c.1058C>T (p.Ser353Leu) rs374713915 0.00001
NM_004006.3(DMD):c.1150-4T>A rs794727031 0.00001
NM_004006.3(DMD):c.1582G>A (p.Ala528Thr) rs201067368 0.00001
NM_004006.3(DMD):c.1919C>T (p.Thr640Met) rs183677010 0.00001
NM_004006.3(DMD):c.243G>A (p.Leu81=) rs748842563 0.00001
NM_004006.3(DMD):c.2617T>C (p.Cys873Arg) rs200872948 0.00001
NM_004006.3(DMD):c.2937C>T (p.Leu979=) rs774450833 0.00001
NM_004006.3(DMD):c.3688C>T (p.Pro1230Ser) rs886042862 0.00001
NM_004006.3(DMD):c.4561A>G (p.Met1521Val) rs757350813 0.00001
NM_004006.3(DMD):c.4773T>C (p.Asp1591=) rs886044358 0.00001
NM_004006.3(DMD):c.4775T>C (p.Met1592Thr) rs398123966 0.00001
NM_004006.3(DMD):c.4941G>A (p.Thr1647=) rs750090479 0.00001
NM_004006.3(DMD):c.4995C>T (p.Ser1665=) rs775659020 0.00001
NM_004006.3(DMD):c.5658T>C (p.Ala1886=) rs398123994 0.00001
NM_004006.3(DMD):c.6896A>C (p.Asn2299Thr) rs747055774 0.00001
NM_004006.3(DMD):c.6973C>A (p.Gln2325Lys) rs781054741 0.00001
NM_004006.3(DMD):c.7427A>G (p.Asn2476Ser) rs757394130 0.00001
NM_004006.3(DMD):c.7956T>C (p.Ser2652=) rs757902182 0.00001
NM_004006.3(DMD):c.8083C>T (p.Pro2695Ser) rs755445214 0.00001
NM_004006.3(DMD):c.8508C>T (p.Gly2836=) rs374374549 0.00001
NM_004006.3(DMD):c.8705G>A (p.Arg2902Gln) rs754308757 0.00001
NM_004006.3(DMD):c.8847G>A (p.Lys2949=) rs185664502 0.00001
NM_004006.3(DMD):c.8913C>T (p.Leu2971=) rs780354925 0.00001
NM_004006.3(DMD):c.9051G>A (p.Leu3017=) rs772255929 0.00001
NM_004086.3(COCH):c.239+5G>A rs563163157 0.00001
NM_004086.3(COCH):c.482-4G>A rs773935807 0.00001
NM_004187.5(KDM5C):c.4338C>T (p.His1446=) rs797044695 0.00001
NM_004260.4(RECQL4):c.2585C>T (p.Ser862Leu) rs781636798 0.00001
NM_004281.4(BAG3):c.465A>G (p.Ala155=) rs775151738 0.00001
NM_004333.6(BRAF):c.1305G>A (p.Arg435=) rs763771673 0.00001
NM_004341.5(CAD):c.1536C>T (p.Thr512=) rs368889621 0.00001
NM_004360.5(CDH1):c.1500C>T (p.Gly500=) rs781317341 0.00001
NM_004369.4(COL6A3):c.1080C>T (p.Asp360=) rs762463347 0.00001
NM_004369.4(COL6A3):c.2487C>T (p.Leu829=) rs752530417 0.00001
NM_004369.4(COL6A3):c.2674G>A (p.Glu892Lys) rs760380736 0.00001
NM_004369.4(COL6A3):c.3198C>T (p.Arg1066=) rs200621867 0.00001
NM_004369.4(COL6A3):c.3220G>A (p.Asp1074Asn) rs778403814 0.00001
NM_004369.4(COL6A3):c.6156+5G>A rs112374074 0.00001
NM_004369.4(COL6A3):c.6754-9C>G rs886038542 0.00001
NM_004369.4(COL6A3):c.7029+3A>G rs886044464 0.00001
NM_004369.4(COL6A3):c.7368G>A (p.Thr2456=) rs778474394 0.00001
NM_004369.4(COL6A3):c.7983C>T (p.Phe2661=) rs375222168 0.00001
NM_004369.4(COL6A3):c.8256G>A (p.Leu2752=) rs769124771 0.00001
NM_004369.4(COL6A3):c.8376C>T (p.Asp2792=) rs772967228 0.00001
NM_004380.3(CREBBP):c.1520A>G (p.Gln507Arg) rs766320521 0.00001
NM_004380.3(CREBBP):c.2943A>G (p.Ala981=) rs1053049323 0.00001
NM_004380.3(CREBBP):c.504G>A (p.Thr168=) rs373310969 0.00001
NM_004380.3(CREBBP):c.5517C>T (p.Pro1839=) rs760307939 0.00001
NM_004393.6(DAG1):c.2652C>A (p.Thr884=) rs762428862 0.00001
NM_004393.6(DAG1):c.498G>A (p.Ser166=) rs794727500 0.00001
NM_004407.4(DMP1):c.402G>A (p.Leu134=) rs780110476 0.00001
NM_004463.3(FGD1):c.714C>T (p.Pro238=) rs747008412 0.00001
NM_004482.4(GALNT3):c.591G>A (p.Ala197=) rs766232837 0.00001
NM_004484.4(GPC3):c.171G>A (p.Val57=) rs398124166 0.00001
NM_004519.4(KCNQ3):c.604+10G>T rs541587196 0.00001
NM_004525.3(LRP2):c.2599A>G (p.Thr867Ala) rs143822500 0.00001
NM_004560.4(ROR2):c.938-6G>C rs769467387 0.00001
NM_004817.4(TJP2):c.1056+8G>C rs779964139 0.00001
NM_004817.4(TJP2):c.1960T>C (p.Leu654=) rs765975804 0.00001
NM_004817.4(TJP2):c.2239T>C (p.Leu747=) rs886043789 0.00001
NM_004817.4(TJP2):c.258C>T (p.Val86=) rs530810462 0.00001
NM_004817.4(TJP2):c.3076G>A (p.Glu1026Lys) rs201202451 0.00001
NM_004817.4(TJP2):c.3372G>A (p.Thr1124=) rs745427593 0.00001
NM_004817.4(TJP2):c.3522C>G (p.Ser1174=) rs761272308 0.00001
NM_004817.4(TJP2):c.61-7267A>G rs896087137 0.00001
NM_004817.4(TJP2):c.966G>T (p.Arg322=) rs199857597 0.00001
NM_004820.5(CYP7B1):c.339A>G (p.Val113=) rs770923196 0.00001
NM_004820.5(CYP7B1):c.999A>G (p.Lys333=) rs746555297 0.00001
NM_004836.7(EIF2AK3):c.2052C>G (p.Leu684=) rs1013032001 0.00001
NM_004836.7(EIF2AK3):c.270G>C (p.Pro90=) rs762693700 0.00001
NM_004839.4(HOMER2):c.33G>A (p.Ala11=) rs201522712 0.00001
NM_004937.3(CTNS):c.612C>T (p.Asn204=) rs200170842 0.00001
NM_004984.4(KIF5A):c.927T>C (p.Tyr309=) rs755457098 0.00001
NM_005005.3(NDUFB9):c.530G>A (p.Arg177Gln) rs780144498 0.00001
NM_005045.4(RELN):c.1734G>A (p.Leu578=) rs727504126 0.00001
NM_005188.4(CBL):c.1320C>T (p.Gly440=) rs794727972 0.00001
NM_005413.4(SIX3):c.876C>G (p.Gly292=) rs886043297 0.00001
NM_005422.4(TECTA):c.1572C>T (p.Cys524=) rs767426110 0.00001
NM_005477.3(HCN4):c.2055C>T (p.Ser685=) rs886042819 0.00001
NM_005477.3(HCN4):c.2523G>A (p.Ser841=) rs768157473 0.00001
NM_005529.7(HSPG2):c.2664C>T (p.Ser888=) rs560919408 0.00001
NM_005529.7(HSPG2):c.3747C>T (p.Cys1249=) rs886042933 0.00001
NM_005529.7(HSPG2):c.8199A>G (p.Ser2733=) rs886044168 0.00001
NM_005633.4(SOS1):c.2728G>C (p.Asp910His) rs369277679 0.00001
NM_005708.5(GPC6):c.930G>A (p.Ser310=) rs754858999 0.00001
NM_005989.4(AKR1D1):c.24C>T (p.His8=) rs138462322 0.00001
NM_006005.3(WFS1):c.2380G>A (p.Glu794Lys) rs201078003 0.00001
NM_006019.4(TCIRG1):c.60G>A (p.Ala20=) rs111424326 0.00001
NM_006031.6(PCNT):c.1593G>A (p.Glu531=) rs767430243 0.00001
NM_006059.4(LAMC3):c.4031-10G>A rs555619019 0.00001
NM_006059.4(LAMC3):c.4698C>T (p.Ser1566=) rs754122699 0.00001
NM_006086.4(TUBB3):c.606C>T (p.Ile202=) rs576180572 0.00001
NM_006129.5(BMP1):c.2745C>T (p.Thr915=) rs374251317 0.00001
NM_006261.5(PROP1):c.456T>C (p.Ala152=) rs758911793 0.00001
NM_006261.5(PROP1):c.592T>C (p.Leu198=) rs780774091 0.00001
NM_006343.3(MERTK):c.1938C>T (p.His646=) rs1309440527 0.00001
NM_006363.6(SEC23B):c.773A>G (p.Gln258Arg) rs534770840 0.00001
NM_006516.4(SLC2A1):c.1446G>C (p.Leu482=) rs794726996 0.00001
NM_006516.4(SLC2A1):c.19-4G>A rs398124229 0.00001
NM_006662.3(SRCAP):c.3484C>T (p.Pro1162Ser) rs753700157 0.00001
NM_006766.5(KAT6A):c.3026C>T (p.Thr1009Met) rs750975358 0.00001
NM_006946.4(SPTBN2):c.4833G>C (p.Met1611Ile) rs1328577241 0.00001
NM_007254.4(PNKP):c.762C>T (p.His254=) rs794727920 0.00001
NM_007294.4(BRCA1):c.1467G>A (p.Glu489=) rs794726997 0.00001
NM_007294.4(BRCA1):c.1866G>A (p.Ala622=) rs1800064 0.00001
NM_007294.4(BRCA1):c.2963C>T (p.Ser988Leu) rs397507206 0.00001
NM_007294.4(BRCA1):c.4047G>A (p.Thr1349=) rs758515222 0.00001
NM_007294.4(BRCA1):c.4097-10G>A rs80358057 0.00001
NM_007294.4(BRCA1):c.4209C>T (p.Asn1403=) rs786201224 0.00001
NM_007373.4(SHOC2):c.183A>G (p.Gln61=) rs371640183 0.00001
NM_012186.3(FOXE3):c.834C>T (p.Pro278=) rs886042525 0.00001
NM_012193.4(FZD4):c.729C>T (p.Ile243=) rs560649393 0.00001
NM_012210.4(TRIM32):c.1326T>A (p.Ile442=) rs1372713940 0.00001
NM_012210.4(TRIM32):c.1386G>A (p.Val462=) rs762905941 0.00001
NM_012210.4(TRIM32):c.807G>A (p.Leu269=) rs1184553729 0.00001
NM_012254.3(SLC27A5):c.1182+7C>T rs376013474 0.00001
NM_012254.3(SLC27A5):c.1498G>T (p.Val500Leu) rs748584848 0.00001
NM_012254.3(SLC27A5):c.169G>A (p.Gly57Ser) rs887693979 0.00001
NM_012301.4(MAGI2):c.878C>T (p.Thr293Ile) rs587780389 0.00001
NM_012418.4(FSCN2):c.1274-6C>T rs1048819854 0.00001
NM_012470.4(TNPO3):c.1810A>G (p.Ile604Val) rs886043402 0.00001
NM_012470.4(TNPO3):c.189T>C (p.Ala63=) rs755216120 0.00001
NM_014014.5(SNRNP200):c.3354C>T (p.Ile1118=) rs376352502 0.00001
NM_014053.4(FLVCR1):c.501G>A (p.Leu167=) rs886043715 0.00001
NM_014112.5(TRPS1):c.933G>A (p.Arg311=) rs886043713 0.00001
NM_014141.6(CNTNAP2):c.3402G>A (p.Val1134=) rs727503877 0.00001
NM_014251.3(SLC25A13):c.1665C>T (p.Gly555=) rs199735534 0.00001
NM_014324.6(AMACR):c.714C>G (p.Pro238=) rs200824585 0.00001
NM_014363.6(SACS):c.8133G>A (p.Ser2711=) rs143386746 0.00001
NM_014363.6(SACS):c.8414C>T (p.Thr2805Ile) rs772742353 0.00001
NM_014780.5(CUL7):c.4068A>G (p.Glu1356=) rs886043610 0.00001
NM_014795.4(ZEB2):c.773G>A (p.Arg258Gln) rs730881173 0.00001
NM_014920.5(CILK1):c.1412C>T (p.Thr471Met) rs56164633 0.00001
NM_014920.5(CILK1):c.816A>T (p.Arg272=) rs868057037 0.00001
NM_015102.5(NPHP4):c.3234C>G (p.Ala1078=) rs1036816659 0.00001
NM_015102.5(NPHP4):c.3927C>T (p.Asp1309=) rs377183096 0.00001
NM_015102.5(NPHP4):c.4143C>T (p.Val1381=) rs766613810 0.00001
NM_015102.5(NPHP4):c.4182G>A (p.Ala1394=) rs754549864 0.00001
NM_015102.5(NPHP4):c.510C>T (p.Pro170=) rs545943420 0.00001
NM_015141.4(GPD1L):c.787C>T (p.Leu263=) rs754888410 0.00001
NM_015272.5(RPGRIP1L):c.1701C>A (p.Ala567=) rs1555604462 0.00001
NM_015272.5(RPGRIP1L):c.1812A>G (p.Glu604=) rs779429646 0.00001
NM_015272.5(RPGRIP1L):c.502G>A (p.Ala168Thr) rs780770984 0.00001
NM_015295.3(SMCHD1):c.3277-5C>T rs542259388 0.00001
NM_015311.3(OBSL1):c.2681-7C>T rs1193236223 0.00001
NM_015311.3(OBSL1):c.4812C>T (p.Ala1604=) rs564855597 0.00001
NM_015404.4(WHRN):c.1632T>C (p.Thr544=) rs759107735 0.00001
NM_015570.4(AUTS2):c.770C>G (p.Pro257Arg) rs200108105 0.00001
NM_015629.4(PRPF31):c.837C>T (p.Ile279=) rs1374316824 0.00001
NM_016239.4(MYO15A):c.3841G>A (p.Gly1281Arg) rs576515898 0.00001
NM_016729.3(FOLR1):c.261C>T (p.Asn87=) rs375444839 0.00001
NM_017617.5(NOTCH1):c.1380G>A (p.Pro460=) rs368963607 0.00001
NM_017668.3(NDE1):c.513T>C (p.Asp171=) rs794727785 0.00001
NM_017739.4(POMGNT1):c.1596T>C (p.Asn532=) rs200730202 0.00001
NM_017777.4(MKS1):c.959-8T>G rs763444295 0.00001
NM_017780.4(CHD7):c.3463C>T (p.Arg1155Cys) rs201769233 0.00001
NM_017780.4(CHD7):c.5828G>A (p.Arg1943Gln) rs753723769 0.00001
NM_017780.4(CHD7):c.768C>T (p.Phe256=) rs727503859 0.00001
NM_018006.5(TRMU):c.579G>T (p.Gly193=) rs1294405938 0.00001
NM_018006.5(TRMU):c.651+9G>A rs1006261196 0.00001
NM_018006.5(TRMU):c.705+10del rs1569081805 0.00001
NM_018006.5(TRMU):c.879C>T (p.Pro293=) rs781401971 0.00001
NM_018006.5(TRMU):c.954C>T (p.Pro318=) rs758271660 0.00001
NM_018100.4(EFHC1):c.564A>G (p.Gln188=) rs766444850 0.00001
NM_018136.5(ASPM):c.174A>T (p.Gly58=) rs908430857 0.00001
NM_018136.5(ASPM):c.4035A>G (p.Lys1345=) rs537034419 0.00001
NM_018451.5(CPAP):c.2457T>C (p.Tyr819=) rs780573822 0.00001
NM_018668.5(VPS33B):c.75G>A (p.Gln25=) rs1289650070 0.00001
NM_019066.5(MAGEL2):c.2919G>A (p.Pro973=) rs544938560 0.00001
NM_019066.5(MAGEL2):c.42G>A (p.Pro14=) rs794726942 0.00001
NM_020223.4(FAM20C):c.915C>T (p.Tyr305=) rs150808056 0.00001
NM_020247.5(COQ8A):c.819G>A (p.Ala273=) rs371866536 0.00001
NM_020247.5(COQ8A):c.957C>T (p.Asp319=) rs764147237 0.00001
NM_020436.5(SALL4):c.1567G>C (p.Gly523Arg) rs113920122 0.00001
NM_020754.4(ARHGAP31):c.1430C>T (p.Pro477Leu) rs200233879 0.00001
NM_020822.3(KCNT1):c.2594+6G>A rs973179248 0.00001
NM_020975.6(RET):c.867+4del rs398124368 0.00001
NM_021167.5(GATAD1):c.*4A>G rs768338694 0.00001
NM_021939.4(FKBP10):c.1399+8G>T rs782073490 0.00001
NM_022081.6(HPS4):c.2040C>T (p.Ser680=) rs752931351 0.00001
NM_022124.6(CDH23):c.4782C>T (p.Arg1594=) rs756336099 0.00001
NM_022124.6(CDH23):c.8065-8G>A rs376332131 0.00001
NM_022124.6(CDH23):c.9759C>T (p.Asp3253=) rs540567272 0.00001
NM_022436.3(ABCG5):c.1446C>T (p.Phe482=) rs886044572 0.00001
NM_022436.3(ABCG5):c.1602G>C (p.Val534=) rs1280735521 0.00001
NM_022436.3(ABCG5):c.780T>C (p.Phe260=) rs765847597 0.00001
NM_022436.3(ABCG5):c.828G>A (p.Thr276=) rs539178581 0.00001
NM_022437.3(ABCG8):c.1059G>C (p.Val353=) rs751866338 0.00001
NM_022437.3(ABCG8):c.1211+7A>T rs568899040 0.00001
NM_022437.3(ABCG8):c.1212-10G>C rs765938367 0.00001
NM_022437.3(ABCG8):c.1533C>T (p.Tyr511=) rs763640657 0.00001
NM_022437.3(ABCG8):c.1789C>A (p.Arg597=) rs776778929 0.00001
NM_022437.3(ABCG8):c.1923C>T (p.Tyr641=) rs369023184 0.00001
NM_022437.3(ABCG8):c.579G>A (p.Ala193=) rs747555833 0.00001
NM_022455.5(NSD1):c.2103G>A (p.Lys701=) rs727504053 0.00001
NM_022455.5(NSD1):c.3355C>G (p.Pro1119Ala) rs727504054 0.00001
NM_022455.5(NSD1):c.3762C>T (p.Pro1254=) rs794727734 0.00001
NM_022726.4(ELOVL4):c.192A>C (p.Pro64=) rs201014417 0.00001
NM_023110.3(FGFR1):c.615C>T (p.Gly205=) rs781689191 0.00001
NM_024301.5(FKRP):c.703C>T (p.Leu235=) rs1428469954 0.00001
NM_024408.4(NOTCH2):c.1134A>G (p.Ala378=) rs782178170 0.00001
NM_024408.4(NOTCH2):c.1791C>T (p.Pro597=) rs781999109 0.00001
NM_024408.4(NOTCH2):c.3252G>A (p.Glu1084=) rs372751663 0.00001
NM_024408.4(NOTCH2):c.4992G>A (p.Val1664=) rs587748556 0.00001
NM_024408.4(NOTCH2):c.6222C>T (p.Thr2074=) rs764335447 0.00001
NM_024408.4(NOTCH2):c.7199G>A (p.Arg2400Gln) rs587654671 0.00001
NM_024408.4(NOTCH2):c.822T>G (p.Val274=) rs782642000 0.00001
NM_024596.5(MCPH1):c.954T>C (p.Ala318=) rs770723949 0.00001
NM_024649.5(BBS1):c.1743C>T (p.His581=) rs61890368 0.00001
NM_024675.4(PALB2):c.2505C>T (p.Ser835=) rs756502783 0.00001
NM_024685.4(BBS10):c.483A>G (p.Lys161=) rs748732850 0.00001
NM_024757.5(EHMT1):c.575C>T (p.Pro192Leu) rs35285441 0.00001
NM_025074.7(FRAS1):c.6876T>C (p.Asp2292=) rs779794904 0.00001
NM_025114.4(CEP290):c.6132T>G (p.Pro2044=) rs765002773 0.00001
NM_030665.4(RAI1):c.1850C>A (p.Ala617Asp) rs549244691 0.00001
NM_030665.4(RAI1):c.1937A>C (p.His646Pro) rs757197196 0.00001
NM_030665.4(RAI1):c.3720C>T (p.Val1240=) rs778274557 0.00001
NM_030665.4(RAI1):c.4616G>A (p.Arg1539His) rs776440167 0.00001
NM_032119.4(ADGRV1):c.10066A>G (p.Ile3356Val) rs727503078 0.00001
NM_032119.4(ADGRV1):c.1140A>G (p.Gln380=) rs373902384 0.00001
NM_032119.4(ADGRV1):c.12176C>T (p.Thr4059Met) rs376833921 0.00001
NM_032119.4(ADGRV1):c.1254A>G (p.Thr418=) rs1315101894 0.00001
NM_032119.4(ADGRV1):c.14304G>A (p.Ser4768=) rs373822878 0.00001
NM_032119.4(ADGRV1):c.15959A>T (p.Asp5320Val) rs398124425 0.00001
NM_032119.4(ADGRV1):c.16226G>A (p.Arg5409Gln) rs567881943 0.00001
NM_032119.4(ADGRV1):c.16745C>T (p.Thr5582Met) rs771468922 0.00001
NM_032119.4(ADGRV1):c.17349A>G (p.Ala5783=) rs747992951 0.00001
NM_032119.4(ADGRV1):c.17794A>C (p.Arg5932=) rs747728554 0.00001
NM_032119.4(ADGRV1):c.17973+7A>G rs751094041 0.00001
NM_032119.4(ADGRV1):c.2567A>G (p.Tyr856Cys) rs558804189 0.00001
NM_032119.4(ADGRV1):c.2735-8T>C rs1181016921 0.00001
NM_032119.4(ADGRV1):c.2820A>G (p.Val940=) rs369910075 0.00001
NM_032119.4(ADGRV1):c.4168A>G (p.Asn1390Asp) rs794727329 0.00001
NM_032119.4(ADGRV1):c.4550G>T (p.Arg1517Ile) rs756555904 0.00001
NM_032119.4(ADGRV1):c.5379T>C (p.Thr1793=) rs772972763 0.00001
NM_032119.4(ADGRV1):c.754A>G (p.Ile252Val) rs1299020576 0.00001
NM_032119.4(ADGRV1):c.8156-6T>C rs574939589 0.00001
NM_032119.4(ADGRV1):c.8292G>A (p.Ser2764=) rs778011573 0.00001
NM_032119.4(ADGRV1):c.8791A>G (p.Met2931Val) rs1250073917 0.00001
NM_032119.4(ADGRV1):c.8938T>C (p.Leu2980=) rs397517442 0.00001
NM_032273.4(TMEM126A):c.385C>G (p.Leu129Val) rs546358774 0.00001
NM_033056.4(PCDH15):c.4608A>G (p.Val1536=) rs727504070 0.00001
NM_033056.4(PCDH15):c.5805G>T (p.Gly1935=) rs727504069 0.00001
NM_033109.5(PNPT1):c.1923G>A (p.Gln641=) rs779794474 0.00001
NM_033337.3(CAV3):c.-2C>T rs772475990 0.00001
NM_033337.3(CAV3):c.117G>C (p.Val39=) rs753959620 0.00001
NM_053025.4(MYLK):c.588+10C>T rs886038709 0.00001
NM_080680.3(COL11A2):c.1298G>A (p.Arg433Gln) rs762813373 0.00001
NM_080916.3(DGUOK):c.143-4G>A rs544350167 0.00001
NM_080916.3(DGUOK):c.256-6C>T rs568816337 0.00001
NM_080916.3(DGUOK):c.405G>A (p.Lys135=) rs775871024 0.00001
NM_080916.3(DGUOK):c.808-10C>G rs758503693 0.00001
NM_130468.4(CHST14):c.198C>G (p.Ala66=) rs1014902072 0.00001
NM_130837.3(OPA1):c.1398T>C (p.Ala466=) rs886043473 0.00001
NM_130837.3(OPA1):c.2729T>G (p.Leu910Arg) rs139106405 0.00001
NM_130839.5(UBE3A):c.1965A>G (p.Leu655=) rs371296838 0.00001
NM_133379.5(TTN):c.11940T>C (p.Asn3980=) rs923904530 0.00001
NM_133379.5(TTN):c.14055A>G (p.Arg4685=) rs1466986172 0.00001
NM_133379.5(TTN):c.14206C>T (p.Leu4736Phe) rs770663802 0.00001
NM_133433.4(NIPBL):c.1077A>G (p.Thr359=) rs767162047 0.00001
NM_133433.4(NIPBL):c.1392T>A (p.Pro464=) rs555179389 0.00001
NM_133433.4(NIPBL):c.6400C>T (p.Leu2134=) rs372730081 0.00001
NM_133433.4(NIPBL):c.772-8A>G rs398124473 0.00001
NM_138694.4(PKHD1):c.2697T>A (p.Thr899=) rs1562217633 0.00001
NM_138694.4(PKHD1):c.6042C>T (p.Tyr2014=) rs373208457 0.00001
NM_138694.4(PKHD1):c.642G>A (p.Gln214=) rs762584715 0.00001
NM_138694.4(PKHD1):c.7308T>G (p.Thr2436=) rs771622189 0.00001
NM_138694.4(PKHD1):c.7641A>G (p.Ser2547=) rs771563591 0.00001
NM_138694.4(PKHD1):c.8997A>G (p.Pro2999=) rs777095602 0.00001
NM_144573.4(NEXN):c.1653A>G (p.Leu551=) rs794727078 0.00001
NM_145200.5(CABP4):c.102G>A (p.Glu34=) rs536552621 0.00001
NM_147127.5(EVC2):c.2758C>T (p.Leu920Phe) rs762404021 0.00001
NM_152564.5(VPS13B):c.10938C>T (p.Val3646=) rs758028194 0.00001
NM_152564.5(VPS13B):c.2651-10T>G rs398124330 0.00001
NM_152564.5(VPS13B):c.3690T>C (p.Thr1230=) rs751715193 0.00001
NM_152564.5(VPS13B):c.6654A>G (p.Leu2218=) rs1046756662 0.00001
NM_152594.3(SPRED1):c.684+50A>T rs200338097 0.00001
NM_153240.5(NPHP3):c.2154C>T (p.Phe718=) rs558637226 0.00001
NM_153240.5(NPHP3):c.306C>T (p.Arg102=) rs762134618 0.00001
NM_153676.4(USH1C):c.2391G>A (p.Val797=) rs375973884 0.00001
NM_153676.4(USH1C):c.966G>C (p.Arg322=) rs748749433 0.00001
NM_170707.4(LMNA):c.111G>A (p.Glu37=) rs886038906 0.00001
NM_170707.4(LMNA):c.1488+8G>A rs762836610 0.00001
NM_170707.4(LMNA):c.498G>A (p.Arg166=) rs886043189 0.00001
NM_170707.4(LMNA):c.643C>T (p.Leu215=) rs397517905 0.00001
NM_170707.4(LMNA):c.732G>A (p.Ala244=) rs756952925 0.00001
NM_172107.4(KCNQ2):c.1209C>T (p.Leu403=) rs752280961 0.00001
NM_172107.4(KCNQ2):c.2052C>T (p.Gly684=) rs764444302 0.00001
NM_173495.3(PTCHD1):c.1003G>A (p.Val335Ile) rs727504113 0.00001
NM_176824.3(BBS7):c.189G>T (p.Gly63=) rs541833400 0.00001
NM_176824.3(BBS7):c.213G>A (p.Leu71=) rs778509860 0.00001
NM_178335.3(CCDC50):c.1430-9C>G rs794727079 0.00001
NM_182914.3(SYNE2):c.18393C>T (p.Ile6131=) rs370317926 0.00001
NM_182961.4(SYNE1):c.10444-6T>C rs376803162 0.00001
NM_182961.4(SYNE1):c.10650C>T (p.Asn3550=) rs772377391 0.00001
NM_182961.4(SYNE1):c.11490G>A (p.Gln3830=) rs746623465 0.00001
NM_182961.4(SYNE1):c.13299C>T (p.His4433=) rs763090658 0.00001
NM_182961.4(SYNE1):c.14079A>G (p.Gln4693=) rs778820710 0.00001
NM_182961.4(SYNE1):c.19815T>A (p.Gly6605=) rs776418227 0.00001
NM_182961.4(SYNE1):c.20322G>A (p.Glu6774=) rs758437949 0.00001
NM_182961.4(SYNE1):c.21768G>A (p.Gln7256=) rs1554226552 0.00001
NM_182961.4(SYNE1):c.23145+6T>G rs794727081 0.00001
NM_182961.4(SYNE1):c.24633C>T (p.Ile8211=) rs201078523 0.00001
NM_182961.4(SYNE1):c.26106G>A (p.Lys8702=) rs765865910 0.00001
NM_182961.4(SYNE1):c.3735C>T (p.Leu1245=) rs758375991 0.00001
NM_194248.3(OTOF):c.2690G>A (p.Arg897Gln) rs760896684 0.00001
NM_198506.5(LRIT3):c.654C>T (p.Val218=) rs763629262 0.00001
NM_198525.3(KIF7):c.510A>G (p.Glu170=) rs761029778 0.00001
NM_198859.4(PRICKLE2):c.516G>A (p.Leu172=) rs727504105 0.00001
NM_198965.2(PTHLH):c.408G>A (p.Gln136=) rs753350587 0.00001
NM_198999.3(SLC26A5):c.117T>G (p.Pro39=) rs764308981 0.00001
NM_201384.3(PLEC):c.11562C>T (p.Arg3854=) rs781931763 0.00001
NM_201384.3(PLEC):c.12354C>T (p.Leu4118=) rs782692436 0.00001
NM_201384.3(PLEC):c.13023G>A (p.Val4341=) rs567904252 0.00001
NM_201384.3(PLEC):c.8066G>A (p.Arg2689His) rs782161008 0.00001
NM_201384.3(PLEC):c.8175G>A (p.Thr2725=) rs1209777415 0.00001
NM_201384.3(PLEC):c.8202G>A (p.Ala2734=) rs782252692 0.00001
NM_201384.3(PLEC):c.8735C>T (p.Ala2912Val) rs935096656 0.00001
NM_201384.3(PLEC):c.9130C>T (p.Leu3044=) rs782038680 0.00001
NM_201525.4(ADGRG1):c.1191C>T (p.Ala397=) rs1367685651 0.00001
NM_201525.4(ADGRG1):c.1578G>A (p.Thr526=) rs727503955 0.00001
NM_206933.4(USH2A):c.13097C>T (p.Ala4366Val) rs727505097 0.00001
NM_206933.4(USH2A):c.3489C>T (p.Asp1163=) rs139156019 0.00001
NM_206933.4(USH2A):c.6958-10A>G rs727504213 0.00001
NM_207346.3(TSEN54):c.1276G>A (p.Val426Met) rs747473434 0.00001
NM_207346.3(TSEN54):c.1527C>T (p.Asp509=) rs201415896 0.00001
NM_207361.6(FREM2):c.7177G>A (p.Ala2393Thr) rs769767420 0.00001
NM_213599.3(ANO5):c.1800+5G>A rs794727179 0.00001
NM_213599.3(ANO5):c.1801-9T>C rs202034123 0.00001
NM_213599.3(ANO5):c.185A>G (p.Gln62Arg) rs754497228 0.00001
NC_000011.10:g.17634839_17634845dup rs1295062471
NM_000018.4(ACADVL):c.1434+14T>A rs202217537
NM_000018.4(ACADVL):c.678C>A (p.Ala226=) rs372114185
NM_000023.4(SGCA):c.861G>A (p.Leu287=) rs1555569293
NM_000038.6(APC):c.4212C>T (p.Ser1404=) rs144655979
NM_000053.4(ATP7B):c.2976C>A (p.Pro992=) rs746358240
NM_000059.4(BRCA2):c.10102T>C (p.Ser3368Pro) rs786205482
NM_000059.4(BRCA2):c.1909+11C>T rs794726968
NM_000059.4(BRCA2):c.1909+9G>T rs794726969
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile) rs276174831
NM_000059.4(BRCA2):c.6513G>T (p.Val2171=) rs206076
NM_000059.4(BRCA2):c.67+16A>T rs529148674
NM_000059.4(BRCA2):c.7630G>A (p.Gly2544Ser) rs587781485
NM_000070.3(CAPN3):c.1227A>C (p.Thr409=) rs111806046
NM_000070.3(CAPN3):c.1227A>G (p.Thr409=) rs111806046
NM_000088.4(COL1A1):c.2283C>T (p.Gly761=) rs759665341
NM_000088.4(COL1A1):c.2838T>G (p.Pro946=) rs1555572418
NM_000088.4(COL1A1):c.516C>T (p.Thr172=) rs377195143
NM_000091.5(COL4A3):c.3825C>T (p.His1275=) rs143380907
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_000093.5(COL5A1):c.67CTG[7] (p.Leu28dup) rs773994971
NM_000101.4(CYBA):c.204-4C>A rs377055239
NM_000101.4(CYBA):c.524CGG[3] (p.Ala176dup) rs760275837
NM_000104.4(CYP1B1):c.1590T>C (p.Asp530=) rs146770394
NM_000117.3(EMD):c.144C>G (p.Leu48=) rs200537612
NM_000117.3(EMD):c.460A>G (p.Met154Val) rs782806462
NM_000117.3(EMD):c.466G>C (p.Gly156Arg) rs144594695
NM_000117.3(EMD):c.610C>G (p.Arg204Gly) rs782299893
NM_000124.4(ERCC6):c.2287-4G>A rs375617750
NM_000124.4(ERCC6):c.4066G>A (p.Gly1356Ser) rs574272317
NM_000136.3(FANCC):c.345+4AG[2] rs755657969
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.5(FBN1):c.5358T>C (p.Val1786=) rs1057521207
NM_000141.5(FGFR2):c.1086G>C (p.Ala362=) rs151250769
NM_000141.5(FGFR2):c.2040C>T (p.Tyr680=) rs751495618
NM_000142.5(FGFR3):c.1657G>A (p.Val553Met) rs199544087
NM_000152.5(GAA):c.1416C>G (p.Thr472=) rs368492669
NM_000152.5(GAA):c.1434G>A (p.Gly478=) rs886043285
NM_000152.5(GAA):c.1438-7_1438-5del rs764583466
NM_000152.5(GAA):c.1536C>T (p.Phe512=) rs143491365
NM_000152.5(GAA):c.1722C>T (p.Leu574=) rs561357893
NM_000152.5(GAA):c.2064C>T (p.Ser688=) rs140996643
NM_000152.5(GAA):c.2155G>T (p.Ala719Ser) rs143324027
NM_000152.5(GAA):c.2647-6G>A rs201525743
NM_000152.5(GAA):c.2800-15CT[3] rs770227589
NM_000159.4(GCDH):c.1167G>A (p.Leu389=) rs398123191
NM_000168.6(GLI3):c.2826G>T (p.Pro942=) rs34245321
NM_000179.3(MSH6):c.2752C>T (p.His918Tyr) rs1558666591
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3393T>C (p.Leu1131=) rs757716138
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del) rs552184470
NM_000190.4(HMBS):c.962G>A (p.Arg321His) rs150428209
NM_000194.3(HPRT1):c.134+6_134+9del rs794727238
NM_000195.5(HPS1):c.1653T>G (p.Thr551=) rs765995574
NM_000202.8(IDS):c.419-16dup rs781852261
NM_000208.4(INSR):c.3165G>A (p.Ala1055=) rs201445608
NM_000208.4(INSR):c.653-9T>C rs868296217
NM_000214.3(JAG1):c.2859T>C (p.Tyr953=) rs1388481192
NM_000214.3(JAG1):c.294C>G (p.Ser98=) rs79338570
NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=) rs112113213
NM_000218.3(KCNQ1):c.879C>A (p.Arg293=) rs181106858
NM_000231.3(SGCG):c.507G>T (p.Gly169=) rs199905729
NM_000232.5(SGCB):c.430-5dup rs762831481
NM_000232.5(SGCB):c.9_14dup (p.Ala8_Ala9dup) rs886044103
NM_000235.4(LIPA):c.1032C>G (p.His344Gln) rs779601441
NM_000235.4(LIPA):c.429-10T>G rs1554865817
NM_000235.4(LIPA):c.539-5C>A rs2297472
NM_000235.4(LIPA):c.615C>G (p.Ser205=) rs143930279
NM_000235.4(LIPA):c.615C>T (p.Ser205=) rs143930279
NM_000235.4(LIPA):c.618C>T (p.Val206=) rs763651849
NM_000235.4(LIPA):c.885C>T (p.His295=) rs886044197
NM_000238.4(KCNH2):c.1320G>T (p.Pro440=) rs144926928
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000245.4(MET):c.2584-7del rs587780736
NM_000257.4(MYH7):c.1755C>T (p.Ile585=) rs201860580
NM_000257.4(MYH7):c.2052G>A (p.Met684Ile) rs727503262
NM_000260.4(MYO7A):c.1056G>A (p.Leu352=) rs886044867
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.5227C>A (p.Arg1743=) rs111033287
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp) rs111033287
NM_000260.4(MYO7A):c.5860C>G (p.Leu1954Val) rs948962
NM_000264.5(PTCH1):c.3624C>T (p.Ala1208=) rs149691476
NM_000264.5(PTCH1):c.4020C>T (p.Gly1340=) rs773564643
NM_000271.5(NPC1):c.1521C>T (p.Ala507=) rs780100866
NM_000271.5(NPC1):c.1947+10G>T rs71534236
NM_000271.5(NPC1):c.1947+10_1947+11insGGC rs1555634676
NM_000271.5(NPC1):c.1947+7_1947+8insCGG rs1555634618
NM_000271.5(NPC1):c.1947+7_1947+8insCGGGG rs1555634618
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe) rs145362908
NM_000271.5(NPC1):c.57+7G>A rs886042901
NM_000275.3(OCA2):c.1015G>T (p.Ala339Ser) rs148468031
NM_000287.4(PEX6):c.1774G>A (p.Glu592Lys) rs375288192
NM_000287.4(PEX6):c.2301-5_2301-2del rs748032659
NM_000287.4(PEX6):c.855C>A (p.Pro285=) rs757897959
NM_000288.4(PEX7):c.130+10C>A rs794726882
NM_000288.4(PEX7):c.330C>T (p.His110=) rs199648976
NM_000293.3(PHKB):c.1969C>A (p.Gln657Lys) rs34667348
NM_000295.5(SERPINA1):c.514G>T (p.Gly172Trp) rs112030253
NM_000295.5(SERPINA1):c.552C>T (p.Tyr184=) rs199422210
NM_000297.4(PKD2):c.2846C>G (p.Ser949Cys) rs749666891
NM_000316.3(PTH1R):c.1716C>T (p.Asp572=) rs200062157
NM_000327.4(ROM1):c.213G>A (p.Ala71=) rs886042979
NM_000334.4(SCN4A):c.483-5C>G rs191547933
NM_000335.5(SCN5A):c.1714_1715delinsTT (p.Ala572Phe) rs730880211
NM_000337.6(SGCD):c.516A>G (p.Thr172=) rs753952200
NM_000350.3(ABCA4):c.4611G>A (p.Thr1537=) rs138475920
NM_000350.3(ABCA4):c.5880C>T (p.Val1960=) rs746250336
NM_000350.3(ABCA4):c.870G>A (p.Arg290=) rs794727902
NM_000360.4(TH):c.342G>A (p.Glu114=) rs886038763
NM_000388.4(CASR):c.1163C>G (p.Ser388Trp) rs377282860
NM_000388.4(CASR):c.2229C>T (p.Leu743=) rs372578790
NM_000388.4(CASR):c.2901C>A (p.Ile967=) rs199594582
NM_000391.4(TPP1):c.244C>T (p.Leu82=) rs794727623
NM_000391.4(TPP1):c.687+20C>T rs569432039
NM_000392.5(ABCC2):c.1434G>A (p.Ala478=) rs4267009
NM_000392.5(ABCC2):c.1446C>T (p.Thr482=) rs113646094
NM_000392.5(ABCC2):c.2034C>T (p.Ser678=) rs1554850241
NM_000392.5(ABCC2):c.2620+10_2620+12del rs764566414
NM_000392.5(ABCC2):c.3057G>A (p.Gln1019=) rs144521346
NM_000392.5(ABCC2):c.3525C>G (p.Ala1175=) rs1554853606
NM_000392.5(ABCC2):c.417G>T (p.Ser139=) rs145350474
NM_000392.5(ABCC2):c.4449C>T (p.Phe1483=) rs756299268
NM_000392.5(ABCC2):c.601C>T (p.Leu201=) rs749655460
NM_000392.5(ABCC2):c.636C>A (p.Ile212=) rs1564673185
NM_000414.4(HSD17B4):c.1768-6_1768-4del rs755128532
NM_000426.4(LAMA2):c.9340G>A (p.Val3114Ile) rs200796753
NM_000441.2(SLC26A4):c.1572C>T (p.Ile524=) rs1562837305
NM_000443.4(ABCB4):c.102G>T (p.Thr34=) rs1277340029
NM_000443.4(ABCB4):c.1413C>T (p.Ile471=) rs771303478
NM_000443.4(ABCB4):c.207A>G (p.Ser69=) rs914166042
NM_000443.4(ABCB4):c.2325G>A (p.Thr775=) rs8187802
NM_000443.4(ABCB4):c.303G>A (p.Ser101=) rs886044650
NM_000443.4(ABCB4):c.3244C>T (p.Leu1082=) rs1562950567
NM_000451.4(SHOX):c.85AAG[1] (p.Lys30del) rs776789883
NM_000452.3(SLC10A2):c.1005G>C (p.Ser335=) rs201571450
NM_000452.3(SLC10A2):c.269T>C (p.Phe90Ser) rs199894506
NM_000452.3(SLC10A2):c.39T>C (p.Val13=) rs201994393
NM_000452.3(SLC10A2):c.39T>G (p.Val13=) rs201994393
NM_000458.4(HNF1B):c.1006C>G (p.His336Asp) rs138986885
NM_000458.4(HNF1B):c.1389C>T (p.Ala463=) rs761684626
NM_000458.4(HNF1B):c.1614C>T (p.Ser538=) rs1568636744
NM_000458.4(HNF1B):c.300C>T (p.Thr100=) rs369134247
NM_000458.4(HNF1B):c.345-4C>T rs200590728
NM_000458.4(HNF1B):c.657C>G (p.Ser219=) rs148713761
NM_000466.3(PEX1):c.1380A>C (p.Glu460Asp) rs565049190
NM_000466.3(PEX1):c.363G>A (p.Leu121=) rs200866361
NM_000466.3(PEX1):c.453G>A (p.Thr151=) rs368714078
NM_000478.6(ALPL):c.921G>A (p.Pro307=) rs1553414111
NM_000489.6(ATRX):c.1446A>G (p.Glu482=) rs886044778
NM_000492.4(CFTR):c.1365G>T (p.Ala455=) rs79074685
NM_000492.4(CFTR):c.1446T>A (p.Ile482=) rs914422460
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile) rs1800097
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.4(CFTR):c.960A>G (p.Leu320=) rs56093012
NM_000493.4(COL10A1):c.720G>A (p.Pro240=) rs112875740
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu) rs184649564
NM_000515.5(GH1):c.16C>A (p.Arg6=) rs140576665
NM_000516.7(GNAS):c.213-5A>G rs763548893
NM_000516.7(GNAS):c.531-13_531-10del rs576071932
NM_000535.7(PMS2):c.164-5T>C rs1554305071
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000540.3(RYR1):c.12852CACGGCGGC[1] (p.4285TAA[1]) rs398123469
NM_000540.3(RYR1):c.12860_12869delinsT (p.Ala4287_Ala4290delinsVal) rs796065337
NM_000540.3(RYR1):c.12990C>G (p.Thr4330=) rs184450380
NM_000540.3(RYR1):c.13044G>A (p.Ala4348=) rs794727985
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.13565C>T (p.Pro4522Leu) rs145167688
NM_000540.3(RYR1):c.4878C>T (p.Ala1626=) rs369466056
NM_000540.3(RYR1):c.6150G>A (p.Glu2050=) rs727504131
NM_000540.3(RYR1):c.6904C>T (p.Leu2302=) rs886042146
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg) rs202081954
NM_000545.8(HNF1A):c.-167TGGGGGT[3] rs538476099
NM_000546.6(TP53):c.559+8G>A rs775915220
NM_000548.5(TSC2):c.1258-10C>G rs794727093
NM_000548.5(TSC2):c.2167A>G (p.Ile723Val) rs764725850
NM_000548.5(TSC2):c.3476G>A (p.Arg1159Gln) rs45473098
NM_000548.5(TSC2):c.3846_3855delinsG (p.Ser1282_Gly1285delinsArg) rs587778732
NM_000548.5(TSC2):c.4216G>T (p.Asp1406Tyr) rs147719291
NM_000553.6(WRN):c.1518AGA[4] (p.Glu510del) rs781777438
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del) rs575583988
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=) rs199538058
NM_000719.7(CACNA1C):c.5706A>G (p.Glu1902=) rs537002656
NM_000744.7(CHRNA4):c.681C>A (p.Ala227=) rs45588436
NM_000782.5(CYP24A1):c.469C>T (p.Arg157Trp) rs35873579
NM_000784.4(CYP27A1):c.1029G>T (p.Thr343=) rs771343931
NM_000784.4(CYP27A1):c.1102_1104delinsTTA (p.Val368Leu) rs886043512
NM_000784.4(CYP27A1):c.1371C>T (p.Thr457=) rs1177463640
NM_000784.4(CYP27A1):c.1471G>A (p.Ala491Thr) rs72551323
NM_000784.4(CYP27A1):c.693A>T (p.Arg231=) rs1187804477
NM_000875.5(IGF1R):c.885G>T (p.Gly295=) rs56303650
NM_000883.4(IMPDH1):c.1362C>A (p.Thr454=) rs62481098
NM_001004334.4(GPR179):c.582C>A (p.Thr194=) rs756762102
NM_001017995.3(SH3PXD2B):c.1063-7G>T rs186443822
NM_001017995.3(SH3PXD2B):c.1063-9_1063-8delinsCT rs797044638
NM_001017995.3(SH3PXD2B):c.1422G>A (p.Pro474=) rs199727236
NM_001024630.4(RUNX2):c.172CAACAGCAGCAGCAGCAGCAG[1] (p.Gln65_Gln71del) rs774172072
NM_001025295.3(IFITM5):c.120G>A (p.Ser40=) rs79625057
NM_001029883.3(PCARE):c.2346A>G (p.Gln782=) rs181545106
NM_001029883.3(PCARE):c.2950C>A (p.Arg984=) rs774215025
NM_001029883.3(PCARE):c.3813C>T (p.His1271=) rs369662857
NM_001035.3(RYR2):c.14757-7_14757-6delinsAT rs727504630
NM_001039141.3(TRIOBP):c.6472+14G>T rs45503898
NM_001040142.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_001042432.2(CLN3):c.537C>G (p.Ala179=) rs147667964
NM_001042472.3(ABHD12):c.405C>A (p.Asp135Glu) rs147070618
NM_001042472.3(ABHD12):c.788-10_788-7del rs565270893
NM_001048166.1(STIL):c.2070A>T (p.Ser690=) rs367887740
NM_001048166.1(STIL):c.873-6G>T rs375670720
NM_001048174.2(MUTYH):c.633A>G (p.Val211=) rs1557474374
NM_001077365.2(POMT1):c.1194C>G (p.Pro398=) rs371653610
NM_001077365.2(POMT1):c.1749C>G (p.Leu583=) rs755379319
NM_001077365.2(POMT1):c.57T>C (p.Leu19=) rs886043325
NM_001077525.3(MTMR14):c.1089C>T (p.Ile363=) rs769182078
NM_001079802.2(FKTN):c.1179G>C (p.Leu393=) rs369117043
NM_001079802.2(FKTN):c.166-9C>T rs1361772036
NM_001079802.2(FKTN):c.411C>T (p.Cys137=) rs537001725
NM_001079802.2(FKTN):c.766C>A (p.Arg256=) rs377417974
NM_001079866.2(BCS1L):c.349C>A (p.Arg117=) rs777735526
NM_001080.3(ALDH5A1):c.102C>G (p.Ala34=) rs779034609
NM_001082538.3(TCTN1):c.699TAA[1] (p.Asn235del) rs797046038
NM_001083961.2(WDR62):c.156C>G (p.Ser52=) rs398123559
NM_001083961.2(WDR62):c.1959-10A>C rs767989054
NM_001083961.2(WDR62):c.2580C>T (p.Pro860=) rs886043531
NM_001083961.2(WDR62):c.3162G>A (p.Pro1054=) rs200232641
NM_001083961.2(WDR62):c.3641C>T (p.Thr1214Ile) rs752898108
NM_001083962.2(TCF4):c.594G>T (p.Ser198=) rs368553922
NM_001099922.3(ALG13):c.2754ACC[14] (p.Pro945del) rs750710267
NM_001101426.4(CRPPA):c.261A>G (p.Val87=) rs886044356
NM_001110219.3(GJB6):c.111G>A (p.Val37=) rs543659673
NM_001110556.2(FLNA):c.7092C>A (p.Ile2364=) rs782591917
NM_001110792.2(MECP2):c.1200A>C (p.Pro400=) rs797044732
NM_001110792.2(MECP2):c.1351G>T (p.Ala451Ser) rs61753973
NM_001110792.2(MECP2):c.563C>A (p.Pro188His) rs61749701
NM_001110792.2(MECP2):c.564C>G (p.Pro188=) rs61754420
NM_001110792.2(MECP2):c.6CGC[7] (p.Ala8dup) rs398123566
NM_001110792.2(MECP2):c.972C>T (p.Val324=) rs398124188
NM_001112704.2(VAX1):c.375G>C (p.Val125=) rs753533789
NM_001122630.2(CDKN1C):c.522TCCGGC[2] (p.168AP[7]) rs878853632
NM_001122630.2(CDKN1C):c.573GGCCCC[5] (p.186AP[11]) rs759134767
NM_001126049.2(KLLN):c.-812G>A rs587779981
NM_001127222.2(CACNA1A):c.2968GAGGGC[4] (p.990EG[4]) rs764399373
NM_001127222.2(CACNA1A):c.3525A>C (p.Pro1175=) rs886044439
NM_001127222.2(CACNA1A):c.3531C>G (p.Pro1177=) rs184723350
NM_001127222.2(CACNA1A):c.4290G>T (p.Ala1430=) rs555959123
NM_001127222.2(CACNA1A):c.6630CCA[10] (p.His2219dup) rs759331923
NM_001127222.2(CACNA1A):c.6630CCA[6] (p.His2217_His2219del) rs759331923
NM_001127222.2(CACNA1A):c.6653_6658del (p.His2218_His2219del) rs774721955
NM_001127649.3(PEX26):c.99G>C (p.Pro33=) rs1284941471
NM_001128178.3(NPHP1):c.1530-10del rs779032904
NM_001128178.3(NPHP1):c.415GAAGAG[1] (p.Glu141_Glu142del) rs777574728
NM_001128178.3(NPHP1):c.728+9G>A rs1280756117
NM_001128178.3(NPHP1):c.771+58C>A rs367600757
NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) rs140574574
NM_001130438.3(SPTAN1):c.1528G>A (p.Glu510Lys) rs769320860
NM_001130438.3(SPTAN1):c.3580-5_3580-2del rs754528571
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=) rs72758823
NM_001130987.2(DYSF):c.1371G>A (p.Ala457=) rs140667960
NM_001130987.2(DYSF):c.1518C>A (p.Ile506=) rs34387018
NM_001130987.2(DYSF):c.1799G>T (p.Arg600Leu) rs546679270
NM_001130987.2(DYSF):c.1944G>T (p.Pro648=) rs115849497
NM_001130987.2(DYSF):c.2865-7_2865-5del rs761299898
NM_001130987.2(DYSF):c.3552G>A (p.Ala1184=) rs201319864
NM_001130987.2(DYSF):c.3678C>G (p.Ile1226Met) rs148858485
NM_001130987.2(DYSF):c.3678C>T (p.Ile1226=) rs148858485
NM_001130987.2(DYSF):c.378G>T (p.Pro126=) rs377056951
NM_001130987.2(DYSF):c.4983G>T (p.Thr1661=) rs142301132
NM_001134363.3(RBM20):c.3047G>C (p.Gly1016Ala) rs540014314
NM_001134363.3(RBM20):c.3331G>T (p.Val1111Leu) rs77110978
NM_001134363.3(RBM20):c.3584C>A (p.Ser1195Tyr) rs753102653
NM_001134831.2(AHI1):c.2961+7_2961+21delinsGACTTTTTTAAAGTTTTAAA rs786200964
NM_001148.6(ANK2):c.7054_7059del (p.Gly2352_Gln2353del) rs774514148
NM_001159699.2(FHL1):c.737-9del rs374867802
NM_001159773.2(CANT1):c.1026C>T (p.His342=) rs755288092
NM_001161352.2(KCNMA1):c.31_51del (p.Ser11_Gly17del) rs1484259264
NM_001164508.2(NEB):c.15237A>G (p.Leu5079=) rs1057522592
NM_001164508.2(NEB):c.153_167dup (p.52LAQPA[3]) rs757726895
NM_001164508.2(NEB):c.15445A>T (p.Ser5149Cys) rs1057521769
NM_001164508.2(NEB):c.5971-6dup rs551520922
NM_001165963.4(SCN1A):c.135C>T (p.Asp45=) rs201985242
NM_001165963.4(SCN1A):c.2044-5dup rs549232924
NM_001165963.4(SCN1A):c.4339-5G>A rs1057522587
NM_001170629.2(CHD8):c.2691G>A (p.Gln897=) rs1369694963
NM_001170629.2(CHD8):c.6447A>G (p.Gln2149=) rs370106194
NM_001177316.2(SLC34A3):c.837G>A (p.Thr279=) rs368153798
NM_001184880.2(PCDH19):c.3127A>T (p.Ile1043Phe) rs189342249
NM_001193315.2(VIPAS39):c.110G>A (p.Arg37Gln) rs537717904
NM_001195248.2(APTX):c.484-25_484-10del rs774597262
NM_001195263.2(PDZD7):c.1348_1350del (p.Glu450del) rs555444131
NM_001199397.3(NEK1):c.1081-8dup rs398124255
NM_001232.4(CASQ2):c.1132GAT[7] (p.Asp383dup) rs72554069
NM_001267550.2(TTN):c.100397G>A (p.Arg33466His) rs189626540
NM_001267550.2(TTN):c.100980G>A (p.Glu33660=) rs727503536
NM_001267550.2(TTN):c.101291C>T (p.Ala33764Val) rs773542514
NM_001267550.2(TTN):c.102885T>C (p.Gly34295=) rs886039175
NM_001267550.2(TTN):c.103113T>C (p.Asn34371=) rs886042668
NM_001267550.2(TTN):c.103246T>C (p.Leu34416=) rs1553492053
NM_001267550.2(TTN):c.103514A>T (p.Glu34505Val) rs761105256
NM_001267550.2(TTN):c.103958G>A (p.Arg34653His) rs72629786
NM_001267550.2(TTN):c.104660C>T (p.Pro34887Leu) rs774131659
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del) rs573843615
NM_001267550.2(TTN):c.107301C>A (p.Ser35767Arg) rs1558965303
NM_001267550.2(TTN):c.12813C>T (p.His4271=) rs373302409
NM_001267550.2(TTN):c.1398+4C>T rs368548209
NM_001267550.2(TTN):c.14212C>A (p.Arg4738=) rs1311308523
NM_001267550.2(TTN):c.14788C>A (p.Pro4930Thr) rs201744218
NM_001267550.2(TTN):c.14788C>G (p.Pro4930Ala) rs201744218
NM_001267550.2(TTN):c.16964T>C (p.Met5655Thr) rs886044306
NM_001267550.2(TTN):c.177C>A (p.Ser59Arg) rs191057824
NM_001267550.2(TTN):c.2218C>A (p.Arg740Ser) rs566299753
NM_001267550.2(TTN):c.2283_2288del (p.Lys762_Ala763del) rs727503701
NM_001267550.2(TTN):c.2396C>T (p.Thr799Met) rs149061352
NM_001267550.2(TTN):c.24156A>G (p.Thr8052=) rs749823104
NM_001267550.2(TTN):c.25087G>T (p.Ala8363Ser) rs200972189
NM_001267550.2(TTN):c.2589T>C (p.Thr863=) rs794727178
NM_001267550.2(TTN):c.26762-10_26762-9insTTGTTTTGTA rs1553893826
NM_001267550.2(TTN):c.26762-39TTTGT[11] rs71393436
NM_001267550.2(TTN):c.26991A>C (p.Thr8997=) rs61232800
NM_001267550.2(TTN):c.28754A>G (p.Glu9585Gly) rs200856239
NM_001267550.2(TTN):c.29144C>T (p.Ala9715Val) rs533172128
NM_001267550.2(TTN):c.3002T>G (p.Met1001Arg) rs148269839
NM_001267550.2(TTN):c.30683-18_30683-9del rs775388232
NM_001267550.2(TTN):c.30713A>G (p.Lys10238Arg) rs780073797
NM_001267550.2(TTN):c.31762+5_31762+7del rs397517538
NM_001267550.2(TTN):c.32554+5_32554+6del rs771419718
NM_001267550.2(TTN):c.32970_32987del (p.10987_10989EEY[1]) rs766756026
NM_001267550.2(TTN):c.33501AGA[4] (p.Glu11172del) rs368327166
NM_001267550.2(TTN):c.34092A>T (p.Leu11364=) rs765888527
NM_001267550.2(TTN):c.34660GAA[1] (p.Glu11555del) rs763098227
NM_001267550.2(TTN):c.34708+9G>T rs397517551
NM_001267550.2(TTN):c.35199A>G (p.Val11733=) rs1560255134
NM_001267550.2(TTN):c.37421T>C (p.Ile12474Thr) rs72650057
NM_001267550.2(TTN):c.40408+3dup rs727504922
NM_001267550.2(TTN):c.40576GAA[3] (p.Glu13529del) rs727504199
NM_001267550.2(TTN):c.40595T>C (p.Val13532Ala) rs756446770
NM_001267550.2(TTN):c.40788A>G (p.Glu13596=) rs886042511
NM_001267550.2(TTN):c.41178C>T (p.Ile13726=) rs1559992784
NM_001267550.2(TTN):c.43502C>G (p.Thr14501Ser) rs115825044
NM_001267550.2(TTN):c.43653T>C (p.His14551=) rs768244114
NM_001267550.2(TTN):c.44210G>A (p.Arg14737His) rs373298007
NM_001267550.2(TTN):c.45748A>T (p.Ser15250Cys) rs776190494
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn) rs397517583
NM_001267550.2(TTN):c.46848G>T (p.Thr15616=) rs766610061
NM_001267550.2(TTN):c.5196A>C (p.Pro1732=) rs142262519
NM_001267550.2(TTN):c.52152C>T (p.Thr17384=) rs1004455055
NM_001267550.2(TTN):c.52290T>C (p.Tyr17430=) rs990974705
NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val) rs886042743
NM_001267550.2(TTN):c.53185C>T (p.Leu17729=) rs767559716
NM_001267550.2(TTN):c.5577G>A (p.Arg1859=) rs551538420
NM_001267550.2(TTN):c.57360T>A (p.Pro19120=) rs778995340
NM_001267550.2(TTN):c.57478G>A (p.Val19160Ile) rs200778464
NM_001267550.2(TTN):c.58205A>G (p.Glu19402Gly) rs886042539
NM_001267550.2(TTN):c.587AAG[2] (p.Glu198del) rs771898264
NM_001267550.2(TTN):c.62534C>T (p.Thr20845Met) rs727505316
NM_001267550.2(TTN):c.62931AGA[1] (p.Glu20979del) rs727505236
NM_001267550.2(TTN):c.64683C>G (p.Gly21561=) rs542156552
NM_001267550.2(TTN):c.65577C>A (p.Val21859=) rs1553629776
NM_001267550.2(TTN):c.66385C>T (p.Arg22129Cys) rs763729258
NM_001267550.2(TTN):c.68604C>T (p.Asp22868=) rs750368181
NM_001267550.2(TTN):c.69876A>C (p.Thr23292=) rs1267766480
NM_001267550.2(TTN):c.69903C>A (p.Phe23301Leu) rs372799151
NM_001267550.2(TTN):c.69903C>T (p.Phe23301=) rs372799151
NM_001267550.2(TTN):c.70026T>C (p.Pro23342=) rs878983731
NM_001267550.2(TTN):c.70137C>A (p.Thr23379=) rs770349910
NM_001267550.2(TTN):c.71832A>C (p.Lys23944Asn) rs1449315408
NM_001267550.2(TTN):c.72174T>C (p.Pro24058=) rs886042700
NM_001267550.2(TTN):c.72716T>A (p.Met24239Lys) rs750298083
NM_001267550.2(TTN):c.74059_74060delinsCA (p.Phe24687His) rs1559409373
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del) rs543318580
NM_001267550.2(TTN):c.76383TAA[1] (p.Asn25462del) rs749648136
NM_001267550.2(TTN):c.77249G>A (p.Arg25750Gln) rs368038362
NM_001267550.2(TTN):c.79519_79520delinsAA (p.Ala26507Asn) rs886044012
NM_001267550.2(TTN):c.79883G>A (p.Arg26628Gln) rs201091376
NM_001267550.2(TTN):c.8184C>G (p.Val2728=) rs753356474
NM_001267550.2(TTN):c.82385C>T (p.Thr27462Met) rs55933739
NM_001267550.2(TTN):c.83281G>A (p.Val27761Ile) rs371788070
NM_001267550.2(TTN):c.85040T>C (p.Ile28347Thr) rs397517731
NM_001267550.2(TTN):c.85722C>T (p.Pro28574=) rs763685410
NM_001267550.2(TTN):c.86729AAG[1] (p.Glu28911del) rs727504797
NM_001267550.2(TTN):c.89457A>G (p.Gly29819=) rs1553542686
NM_001267550.2(TTN):c.89742A>G (p.Ile29914Met) rs1230340692
NM_001267550.2(TTN):c.90594T>C (p.His30198=) rs765307374
NM_001267550.2(TTN):c.90715G>A (p.Ala30239Thr) rs879126335
NM_001267550.2(TTN):c.90758GAG[2] (p.Gly30255del) rs748912340
NM_001267550.2(TTN):c.91884A>G (p.Arg30628=) rs144922355
NM_001267550.2(TTN):c.92871T>C (p.Ala30957=) rs748822553
NM_001267550.2(TTN):c.93129C>T (p.Asp31043=) rs758336721
NM_001267550.2(TTN):c.94282C>A (p.Arg31428Ser) rs190282707
NM_001267550.2(TTN):c.95598C>T (p.Thr31866=) rs1553520323
NM_001267550.2(TTN):c.9618T>C (p.Phe3206=) rs878971586
NM_001267550.2(TTN):c.96235G>A (p.Asp32079Asn) rs200540781
NM_001267550.2(TTN):c.98721C>T (p.Leu32907=) rs375361462
NM_001267550.2(TTN):c.98893G>C (p.Asp32965His) rs186405108
NM_001267550.2(TTN):c.99567C>T (p.Leu33189=) rs745708104
NM_001272071.2(AP1S2):c.252T>C (p.His84=) rs727503807
NM_001278116.2(L1CAM):c.2137+5_2137+6insGGCAGGTGT rs398123361
NM_001291867.2(NHS):c.4428_4430dup (p.Ser1480dup) rs398124609
NM_001292063.2(OTOG):c.600CTT[1] (p.Phe202del) rs753906203
NM_001292063.2(OTOG):c.6667G>A (p.Val2223Met) rs572886375
NM_001297.5(CNGB1):c.49C>T (p.Arg17Trp) rs200694933
NM_001329943.3(KIAA0586):c.64C>T (p.Arg22Cys) rs202124602
NM_001330078.2(NRXN1):c.1843C>T (p.Leu615=) rs201029409
NM_001330260.2(SCN8A):c.1846GGCTACAGC[1] (p.616GYS[1]) rs758276968
NM_001351132.2(PEX5):c.135G>C (p.Pro45=) rs761885230
NM_001351132.2(PEX5):c.48G>A (p.Pro16=) rs147958315
NM_001354604.2(MITF):c.639C>T (p.Asn213=) rs137944487
NM_001360.3(DHCR7):c.906C>T (p.Phe302=) rs80338858
NM_001360016.2(G6PD):c.1398C>T (p.Thr466=) rs398123547
NM_001364905.1(LRBA):c.3789C>T (p.Asn1263=) rs150689413
NM_001365276.2(TNXB):c.1259T>C (p.Val420Ala) rs200226242
NM_001365951.3(KIF1B):c.430-9del rs771477893
NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala) rs532620482
NM_001367624.2(ZNF469):c.5340C>G (p.Pro1780=) rs184374078
NM_001367624.2(ZNF469):c.725_726delinsTT (p.Ser242Ile) rs886043704
NM_001367721.1(CASK):c.1215A>G (p.Ala405=) rs1555989329
NM_001367721.1(CASK):c.1224A>G (p.Arg408=) rs1555989321
NM_001367721.1(CASK):c.1419A>G (p.Pro473=) rs764194945
NM_001367916.1(MAGT1):c.16C>T (p.Arg6Trp) rs140854076
NM_001368397.1(FRMPD4):c.3937C>A (p.Arg1313=) rs41303149
NM_001371596.2(MFSD8):c.63-4del rs755011754
NM_001374353.1(GLI2):c.3418C>T (p.Leu1140=) rs141988240
NM_001374385.1(ATP8B1):c.182-5dup rs34583775
NM_001374385.1(ATP8B1):c.2209+10T>C rs1555689635
NM_001374385.1(ATP8B1):c.306C>T (p.Tyr102=) rs1555693515
NM_001374385.1(ATP8B1):c.3636G>A (p.Ser1212=) rs748084795
NM_001374385.1(ATP8B1):c.921C>T (p.His307=) rs747429748
NM_001378120.1(MBD5):c.3603G>T (p.Ser1201=) rs138058889
NM_001378454.1(ALMS1):c.2038C>G (p.Arg680Gly) rs115444326
NM_001378454.1(ALMS1):c.4843T>G (p.Leu1615Val) rs375736124
NM_001378454.1(ALMS1):c.6211A>G (p.Ile2071Val) rs1020163869
NM_001378454.1(ALMS1):c.6960G>A (p.Gln2320=) rs794727925
NM_001378615.1(CC2D2A):c.2182-9_2182-8delinsAA rs1560177950
NM_001378615.1(CC2D2A):c.3145C>A (p.Arg1049=) rs386833750
NM_001384140.1(PCDH15):c.2277T>C (p.Phe759=) rs1565043296
NM_001384140.1(PCDH15):c.2885G>T (p.Arg962Leu) rs45483395
NM_001384140.1(PCDH15):c.3699C>T (p.Ser1233=) rs774857947
NM_001384140.1(PCDH15):c.4308GCC[6] (p.Pro1443dup) rs559130985
NM_001384140.1(PCDH15):c.4320_4328dup (p.Pro1441_Pro1443dup) rs776051221
NM_001384474.1(LOXHD1):c.2874_2891dup (p.Ser960_Ser965dup) rs759237437
NM_001384474.1(LOXHD1):c.5712C>T (p.Asn1904=) rs746023380
NM_001384474.1(LOXHD1):c.710A>G (p.Asn237Ser) rs539278802
NM_001385.3(DPYS):c.1506del (p.Arg503fs) rs79080341
NM_001453.3(FOXC1):c.1464GGC[4] (p.Ala494_Ala495del) rs747574884
NM_001457.4(FLNB):c.5967C>T (p.Pro1989=) rs374686904
NM_001457.4(FLNB):c.6367+7G>C rs201871482
NM_001458.5(FLNC):c.3489G>C (p.Pro1163=) rs369853278
NM_001540.5(HSPB1):c.364+6C>G rs753061670
NM_001692.4(ATP6V1B1):c.815C>T (p.Ala272Val) rs145735762
NM_001701.4(BAAT):c.9G>A (p.Gln3=) rs149369902
NM_001793.6(CDH3):c.2430C>T (p.Asn810=) rs774229703
NM_001844.5(COL2A1):c.1077C>T (p.Val359=) rs202002349
NM_001844.5(COL2A1):c.3222C>A (p.Gly1074=) rs746453469
NM_001844.5(COL2A1):c.4414G>C (p.Gly1472Arg) rs763352763
NM_001848.3(COL6A1):c.1959C>T (p.Phe653=) rs112104768
NM_001848.3(COL6A1):c.2220G>T (p.Pro740=) rs138976133
NM_001849.4(COL6A2):c.1117-9C>T rs1057523383
NM_001849.4(COL6A2):c.2422+7G>A rs773282809
NM_001849.4(COL6A2):c.2422+7G>T rs773282809
NM_001849.4(COL6A2):c.2748C>A (p.His916Gln) rs372206114
NM_001851.6(COL9A1):c.1342-11_1342-3del rs774856588
NM_001851.6(COL9A1):c.2076A>G (p.Glu692=) rs557157592
NM_001851.6(COL9A1):c.56C>T (p.Pro19Leu) rs146700420
NM_001854.4(COL11A1):c.1201T>A (p.Phe401Ile) rs141817156
NM_001854.4(COL11A1):c.1792-39ATG[11] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[13] rs71752747
NM_001854.4(COL11A1):c.2976T>C (p.Pro992=) rs368868551
NM_001918.5(DBT):c.1210-10dup rs398123658
NM_001927.4(DES):c.1353C>T (p.Ile451=) rs121913002
NM_001927.4(DES):c.1372-3dup rs876657769
NM_001927.4(DES):c.1404A>G (p.Glu468=) rs397516691
NM_001927.4(DES):c.404C>T (p.Ala135Val) rs546741834
NM_001966.4(EHHADH):c.411G>A (p.Gln137=) rs148984368
NM_001999.4(FBN2):c.3710G>A (p.Arg1237His) rs142185964
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln) rs142755118
NM_002047.4(GARS1):c.1614-4G>C rs376324026
NM_002098.6(GUCA1B):c.297G>A (p.Lys99=) rs794727264
NM_002181.4(IHH):c.228_229delinsAA (p.Arg77Ser) rs886043368
NM_002234.4(KCNA5):c.859_860delinsTT (p.Ala287Leu) rs1565465582
NM_002242.4(KCNJ13):c.558T>C (p.Asn186=) rs886043769
NM_002335.4(LRP5):c.-19del rs763941232
NM_002335.4(LRP5):c.34CTG[7] (p.Leu19_Leu20del) rs72555376
NM_002335.4(LRP5):c.3552C>A (p.Thr1184=) rs764663599
NM_002381.5(MATN3):c.132C>T (p.Pro44=) rs886043710
NM_002435.3(MPI):c.678C>A (p.Ala226=) rs199972529
NM_002437.5(MPV17):c.279+9_279+11del rs751559319
NM_002437.5(MPV17):c.450C>T (p.Pro150=) rs1244633595
NM_002472.3(MYH8):c.3254+1G>T rs372740784
NM_002474.3(MYH11):c.3651+5T>G rs794727439
NM_002474.3(MYH11):c.5787-4733CT[3] rs747642850
NM_002485.5(NBN):c.1846-11_1846-7del rs1060504925
NM_002617.4(PEX10):c.333C>T (p.Leu111=) rs781710848
NM_002693.3(POLG):c.119GGC[4] (p.Arg42dup) rs761080016
NM_002693.3(POLG):c.125_139del (p.Arg42_Gln46del) rs780010436
NM_002693.3(POLG):c.155_166del (p.Gln52_Gln55del) rs761909257
NM_002693.3(POLG):c.1905G>A (p.Pro635=) rs550592814
NM_002693.3(POLG):c.1905G>T (p.Pro635=) rs550592814
NM_002693.3(POLG):c.1950-10C>T rs749522324
NM_002693.3(POLG):c.237C>G (p.Leu79=) rs774537232
NM_002693.3(POLG):c.2481-10A>C rs555280530
NM_002693.3(POLG):c.2994G>T (p.Ser998=) rs567030498
NM_002693.3(POLG):c.33C>T (p.Gly11=) rs1482684558
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_002857.4(PEX19):c.115C>T (p.Pro39Ser) rs144256391
NM_002857.4(PEX19):c.162G>A (p.Ser54=) rs540593146
NM_002880.4(RAF1):c.124_125delinsAT (p.Ala42Ile) rs876657965
NM_002900.3(RBP3):c.1641G>A (p.Thr547=) rs534717081
NM_003036.4(SKI):c.1890C>T (p.Ala630=) rs773151547
NM_003193.5(TBCE):c.660+9_660+10del rs569925016
NM_003242.6(TGFBR2):c.1254+8A>G rs200630803
NM_003289.4(TPM2):c.81C>T (p.Ala27=) rs564977715
NM_003322.6(TULP1):c.846G>A (p.Pro282=) rs149980694
NM_003392.7(WNT5A):c.141-8C>T rs188798140
NM_003413.4(ZIC3):c.135CGC[10] (p.Ala55dup) rs748325646
NM_003477.3(PDHX):c.160+9C>T rs886042781
NM_003482.4(KMT2D):c.11702AGC[6] (p.Gln3905dup) rs944680171
NM_003482.4(KMT2D):c.11738AGC[8] (p.Gln3919dup) rs576788910
NM_003482.4(KMT2D):c.11864_11893del (p.Leu3955_Gln3964del) rs886042299
NM_003482.4(KMT2D):c.13437G>T (p.Gly4479=) rs727503981
NM_003482.4(KMT2D):c.1940C>A (p.Pro647Gln) rs200088180
NM_003482.4(KMT2D):c.2232_2258del (p.746RPEEPHLSP[1]) rs398123736
NM_003482.4(KMT2D):c.2264G>A (p.Arg755Gln) rs776110112
NM_003482.4(KMT2D):c.2551C>T (p.Leu851=) rs186151848
NM_003482.4(KMT2D):c.2860T>C (p.Leu954=) rs398123740
NM_003482.4(KMT2D):c.2992C>A (p.Pro998Thr) rs143711798
NM_003482.4(KMT2D):c.6456C>T (p.Gly2152=) rs727503985
NM_003482.4(KMT2D):c.7109G>C (p.Arg2370Pro) rs373234419
NM_003494.4(DYSF):c.4C>T (p.Leu2=) rs772536111
NM_003659.4(AGPS):c.638-7T>C rs886044553
NM_003673.4(TCAP):c.313G>A (p.Glu105Lys) rs146906267
NM_003722.5(TP63):c.435G>C (p.Ala145=) rs546908184
NM_003742.4(ABCB11):c.1435-13_1435-8del rs748716950
NM_003742.4(ABCB11):c.1608T>C (p.Asn536=) rs1227759001
NM_003742.4(ABCB11):c.1857G>T (p.Thr619=) rs760948323
NM_003742.4(ABCB11):c.2298G>A (p.Gly766=) rs200087122
NM_003742.4(ABCB11):c.2700G>A (p.Leu900=) rs371263629
NM_003742.4(ABCB11):c.585G>C (p.Val195=) rs11568365
NM_003742.4(ABCB11):c.896G>A (p.Arg299Lys) rs2287617
NM_003835.4(RGS9):c.313_314delinsGG (p.Thr105Gly) rs797044755
NM_003846.3(PEX11B):c.238G>A (p.Val80Ile) rs587764801
NM_003919.3(SGCE):c.436T>A (p.Leu146Met) rs752074255
NM_004006.3(DMD):c.-29dup rs398123823
NM_004006.3(DMD):c.1311T>G (p.Ala437=) rs398123855
NM_004006.3(DMD):c.1482+7G>T rs766338928
NM_004006.3(DMD):c.1687C>A (p.Arg563Ser) rs145739725
NM_004006.3(DMD):c.3080G>C (p.Gly1027Ala) rs370171367
NM_004006.3(DMD):c.31+134AT[6] rs764891575
NM_004006.3(DMD):c.3649C>G (p.Leu1217Val) rs886042839
NM_004006.3(DMD):c.3696A>C (p.Ala1232=) rs369971712
NM_004006.3(DMD):c.445C>A (p.Arg149Ser) rs774139970
NM_004006.3(DMD):c.468A>C (p.Val156=) rs886044031
NM_004006.3(DMD):c.5326-11dup rs398123988
NM_004006.3(DMD):c.5358T>C (p.Phe1786=) rs886042125
NM_004006.3(DMD):c.5481G>A (p.Leu1827=) rs794727612
NM_004006.3(DMD):c.5933G>A (p.Arg1978His) rs148135406
NM_004006.3(DMD):c.8172C>T (p.Leu2724=) rs886044500
NM_004006.3(DMD):c.8322G>T (p.Leu2774=) rs72466575
NM_004006.3(DMD):c.9150G>A (p.Gln3050=) rs1352900858
NM_004187.5(KDM5C):c.1794C>T (p.Pro598=) rs35353912
NM_004239.4(TRIP11):c.4892+10del rs794727098
NM_004260.4(RECQL4):c.213+6del rs535285068
NM_004260.4(RECQL4):c.3624C>A (p.Arg1208=) rs56341125
NM_004333.6(BRAF):c.83GCGCCG[4] (p.28GA[4]) rs397507458
NM_004333.6(BRAF):c.918C>G (p.Ser306=) rs794727865
NM_004369.4(COL6A3):c.3852C>T (p.Phe1284=) rs148561729
NM_004369.4(COL6A3):c.3982C>T (p.Leu1328=) rs727503885
NM_004369.4(COL6A3):c.4011G>A (p.Pro1337=) rs114498197
NM_004369.4(COL6A3):c.4510C>A (p.Arg1504=) rs144223596
NM_004369.4(COL6A3):c.5148C>T (p.His1716=) rs114845780
NM_004369.4(COL6A3):c.576G>T (p.Pro192=) rs141560881
NM_004369.4(COL6A3):c.7645C>A (p.Arg2549=) rs151079701
NM_004380.3(CREBBP):c.1331-12_1331-9del rs765955245
NM_004380.3(CREBBP):c.6666_6677del (p.2220_2223GMAG[1]) rs778220523
NM_004385.5(VCAN):c.1458G>T (p.Ser486=) rs150735474
NM_004385.5(VCAN):c.6902T>G (p.Phe2301Cys) rs160278
NM_004565.3(PEX14):c.299-8G>A rs112851814
NM_004565.3(PEX14):c.48T>C (p.Thr16=) rs779545665
NM_004568.6(SERPINB6):c.441G>A (p.Ala147=) rs201913568
NM_004646.4(NPHS1):c.3456G>T (p.Thr1152=) rs138092189
NM_004715.5(CTDP1):c.2307C>T (p.Pro769=) rs1403055370
NM_004817.4(TJP2):c.1520+6T>C rs886044597
NM_004817.4(TJP2):c.3408-6del rs778863371
NM_004817.4(TJP2):c.395C>G (p.Pro132Arg) rs141496493
NM_004817.4(TJP2):c.850AGCCGC[3] (p.284SR[3]) rs760152519
NM_004820.5(CYP7B1):c.963A>G (p.Glu321=) rs1045912447
NM_004982.4(KCNJ8):c.471G>C (p.Thr157=) rs143319002
NM_004999.4(MYO6):c.2898AGA[3] (p.Glu970del) rs727504743
NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del) rs762015967
NM_005045.4(RELN):c.9837C>G (p.Thr3279=) rs202224350
NM_005097.4(LGI1):c.297A>G (p.Thr99=) rs777027658
NM_005120.3(MED12):c.6288GCA[9] (p.Gln2114_Gln2115dup) rs766775649
NM_005188.4(CBL):c.2190G>A (p.Thr730=) rs143840974
NM_005199.5(CHRNG):c.806-7T>C rs773463683
NM_005219.5(DIAPH1):c.1769G>T (p.Gly590Val) rs189809247
NM_005249.5(FOXG1):c.209AGC[5] (p.Gln73dup) rs398124201
NM_005249.5(FOXG1):c.219GCC[7] (p.Pro80dup) rs786200975
NM_005379.4(MYO1A):c.3128A>G (p.Gln1043Arg) rs370617353
NM_005422.4(TECTA):c.336T>C (p.Tyr112=) rs886043412
NM_005422.4(TECTA):c.4004G>A (p.Gly1335Glu) rs148619105
NM_005476.7(GNE):c.2086G>T (p.Val696Leu) rs121908627
NM_005477.3(HCN4):c.2804C>T (p.Ser935Phe) rs775803239
NM_005477.3(HCN4):c.321C>T (p.Gly107=) rs1555479019
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_005634.3(SOX3):c.735_737dup (p.Ala248dup) rs398124211
NM_005708.5(GPC6):c.1152+9T>A rs794727797
NM_005802.5(TOPORS):c.1953C>T (p.Ser651=) rs727504178
NM_005802.5(TOPORS):c.2018G>T (p.Arg673Leu) rs147497536
NM_005881.4(BCKDK):c.*9C>A rs199965337
NM_005957.5(MTHFR):c.1408_1409delinsCT (p.Glu470Leu) rs886043349
NM_006005.3(WFS1):c.154C>A (p.Pro52Thr) rs111773340
NM_006005.3(WFS1):c.2370G>C (p.Ser790=) rs150936382
NM_006005.3(WFS1):c.2385G>A (p.Glu795=) rs373310972
NM_006015.6(ARID1A):c.729GGC[4] (p.Ala247dup) rs749970078
NM_006019.4(TCIRG1):c.1623G>A (p.Leu541=) rs534950651
NM_006019.4(TCIRG1):c.1755G>T (p.Val585=) rs1554999033
NM_006019.4(TCIRG1):c.1836C>T (p.Asn612=) rs886042823
NM_006031.6(PCNT):c.2108A>T (p.Tyr703Phe) rs572444748
NM_006031.6(PCNT):c.24G>C (p.Arg8=) rs375279759
NM_006031.6(PCNT):c.481_519dup (p.Val161_Thr173dup) rs886042352
NM_006031.6(PCNT):c.5563C>A (p.Arg1855=) rs151138182
NM_006031.6(PCNT):c.7464C>G (p.Leu2488=) rs572321857
NM_006031.6(PCNT):c.8889G>A (p.Ser2963=) rs151325202
NM_006059.4(LAMC3):c.1939G>C (p.Gly647Arg) rs144242690
NM_006059.4(LAMC3):c.3250G>C (p.Glu1084Gln) rs146221263
NM_006059.4(LAMC3):c.3379G>A (p.Glu1127Lys) rs140955110
NM_006059.4(LAMC3):c.4146G>C (p.Arg1382Ser) rs147092908
NM_006208.3(ENPP1):c.27C>G (p.Gly9=) rs794726927
NM_006261.5(PROP1):c.636T>C (p.Pro212=) rs759632048
NM_006343.3(MERTK):c.1137T>G (p.Thr379=) rs1558793454
NM_006343.3(MERTK):c.1961-4dup rs772574056
NM_006343.3(MERTK):c.2435A>C (p.Tyr812Ser) rs141361084
NM_006420.3(ARFGEF2):c.3624C>G (p.Ala1208=) rs372376922
NM_006445.4(PRPF8):c.5001C>T (p.Arg1667=) rs794727562
NM_006445.4(PRPF8):c.5943G>C (p.Val1981=) rs758937794
NM_006486.3(FBLN1):c.279G>T (p.Thr93=) rs765918593
NM_006516.4(SLC2A1):c.679+4C>T rs139492241
NM_006517.5(SLC16A2):c.113AGCCCG[4] (p.34EP[6]) rs757881983
NM_006642.5(SDCCAG8):c.597C>A (p.Gly199=) rs143407309
NM_006662.3(SRCAP):c.5838C>A (p.Pro1946=) rs1276291921
NM_006790.3(MYOT):c.1275A>G (p.Ala425=) rs140678912
NM_006790.3(MYOT):c.1401T>C (p.Asn467=) rs145427063
NM_006846.4(SPINK5):c.2494ACAGGAGAAAGGAGCAAT[1] (p.832TGERSN[1]) rs554634510
NM_006859.4(LIAS):c.-1A>G rs139360916
NM_006899.5(IDH3B):c.522G>T (p.Leu174=) rs778097475
NM_006899.5(IDH3B):c.665+8G>T rs1555781271
NM_006922.4(SCN3A):c.5172C>T (p.Pro1724=) rs370428859
NM_007126.5(VCP):c.1896C>A (p.Ala632=) rs141275388
NM_007129.5(ZIC2):c.1392_1406del (p.Ala466_Ala470del) rs761822481
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met) rs200611702
NM_007294.4(BRCA1):c.439T>C (p.Leu147=) rs794727800
NM_007294.4(BRCA1):c.548-9del rs273902774
NM_007294.4(BRCA1):c.81-13C>G rs56328013
NM_012210.4(TRIM32):c.1710G>A (p.Ser570=) rs555217187
NM_012210.4(TRIM32):c.319C>T (p.Leu107=) rs886042410
NM_012210.4(TRIM32):c.633T>C (p.Ala211=) rs753960738
NM_012254.3(SLC27A5):c.1407C>T (p.Phe469=) rs536826731
NM_012254.3(SLC27A5):c.309G>A (p.Lys103=) rs956885811
NM_012254.3(SLC27A5):c.813G>T (p.Ala271=) rs559467414
NM_012463.4(ATP6V0A2):c.264G>T (p.Ala88=) rs139785866
NM_012463.4(ATP6V0A2):c.422G>T (p.Arg141Leu) rs143509747
NM_012463.4(ATP6V0A2):c.840C>T (p.Thr280=) rs139680786
NM_013382.7(POMT2):c.1726-9A>T rs747493997
NM_013382.7(POMT2):c.232G>C (p.Glu78Gln) rs151103906
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_014014.5(SNRNP200):c.3897C>G (p.Thr1299=) rs144934076
NM_014140.4(SMARCAL1):c.340C>G (p.Arg114Gly) rs202031614
NM_014141.6(CNTNAP2):c.2136C>T (p.Asn712=) rs187552025
NM_014141.6(CNTNAP2):c.3193C>A (p.Leu1065Ile) rs146225600
NM_014141.6(CNTNAP2):c.3595G>T (p.Ala1199Ser) rs727503878
NM_014141.6(CNTNAP2):c.3678C>T (p.Ser1226=) rs201219937
NM_014236.4(GNPAT):c.1752C>T (p.Cys584=) rs775776447
NM_014244.5(ADAMTS2):c.1869C>T (p.Arg623=) rs376058580
NM_014251.3(SLC25A13):c.848+9G>T rs201395793
NM_014319.5(LEMD3):c.636G>A (p.Gly212=) rs771253349
NM_014324.6(AMACR):c.109C>A (p.Pro37Thr) rs199734111
NM_014336.5(AIPL1):c.971G>T (p.Arg324Leu) rs150427474
NM_014363.6(SACS):c.4279C>A (p.Pro1427Thr) rs527513599
NM_014363.6(SACS):c.6008A>T (p.Asp2003Val) rs537408260
NM_014363.6(SACS):c.8022T>C (p.Phe2674=) rs34928783
NM_014425.5(INVS):c.3182dup (p.Asn1061fs) rs760013326
NM_014467.3(SRPX2):c.605G>A (p.Arg202Gln) rs200784551
NM_014491.4(FOXP2):c.1434A>T (p.Arg478=) rs201343293
NM_014639.4(SKIC3):c.2292-7C>T rs1554050960
NM_014639.4(SKIC3):c.4497-14dup rs755628334
NM_014780.5(CUL7):c.1782G>A (p.Ala594=) rs369092411
NM_014780.5(CUL7):c.2229C>G (p.Ala743=) rs188565648
NM_014780.5(CUL7):c.2754G>A (p.Thr918=) rs138777262
NM_014795.4(ZEB2):c.1542G>A (p.Pro514=) rs141674976
NM_014795.4(ZEB2):c.1542G>T (p.Pro514=) rs141674976
NM_014845.6(FIG4):c.2097-10C>G rs142482745
NM_014874.4(MFN2):c.1920C>G (p.Leu640=) rs141468012
NM_014989.7(RIMS1):c.2107T>A (p.Ser703Thr) rs772471723
NM_015102.5(NPHP4):c.1257C>T (p.His419=) rs768393994
NM_015102.5(NPHP4):c.2250C>T (p.Asp750=) rs201090359
NM_015102.5(NPHP4):c.3758G>A (p.Arg1253Gln) rs560944258
NM_015102.5(NPHP4):c.594G>C (p.Ala198=) rs141538649
NM_015192.4(PLCB1):c.3135C>T (p.Val1045=) rs577076166
NM_015295.3(SMCHD1):c.162G>T (p.Ala54=) rs766395572
NM_015295.3(SMCHD1):c.3444T>A (p.Pro1148=) rs76290319
NM_015295.3(SMCHD1):c.4282-5dup rs752013568
NM_015295.3(SMCHD1):c.4695C>T (p.Phe1565=) rs757300247
NM_015404.4(WHRN):c.2644C>A (p.Arg882Ser) rs150586098
NM_015506.3(MMACHC):c.848G>C (p.Ter283Ser) rs201025783
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu) rs201025783
NM_015702.3(MMADHC):c.609+8_609+100del rs1553453945
NM_015922.3(NSDHL):c.842G>A (p.Arg281His) rs782143078
NM_016239.4(MYO15A):c.1323G>A (p.Ala441=) rs376905344
NM_016239.4(MYO15A):c.534C>T (p.Ala178=) rs749146534
NM_016247.4(IMPG2):c.534-13dup rs567795716
NM_016356.5(DCDC2):c.543C>T (p.Ser181=) rs141060456
NM_016356.5(DCDC2):c.696G>A (p.Arg232=) rs758802517
NM_016366.3(CABP2):c.201C>A (p.Ala67=) rs138981491
NM_016729.3(FOLR1):c.510A>G (p.Ala170=) rs564331848
NM_017433.5(MYO3A):c.1643C>A (p.Pro548His) rs143918373
NM_017433.5(MYO3A):c.3585G>T (p.Val1195=) rs372169216
NM_017433.5(MYO3A):c.4567C>G (p.Arg1523Gly) rs727504688
NM_017668.3(NDE1):c.701G>A (p.Arg234His) rs138255766
NM_017780.4(CHD7):c.3949C>T (p.Arg1317Cys) rs373301291
NM_017837.4(PIGV):c.348_349delinsAG (p.Ile117Val) rs886044116
NM_017837.4(PIGV):c.678G>A (p.Thr226=) rs769023704
NM_017946.4(FKBP14):c.493AAG[1] (p.Lys166del) rs542254849
NM_018006.5(TRMU):c.102G>A (p.Val34=) rs1426898716
NM_018006.5(TRMU):c.248+9_248+18del rs763718617
NM_018006.5(TRMU):c.99G>A (p.Gly33=) rs1569060096
NM_018136.5(ASPM):c.4115ATT[1] (p.Tyr1373del) rs587783241
NM_018136.5(ASPM):c.5138G>A (p.Arg1713His) rs141297873
NM_018136.5(ASPM):c.8309T>G (p.Val2770Gly) rs886043529
NM_018668.5(VPS33B):c.456G>T (p.Leu152=) rs997425993
NM_018941.4(CLN8):c.648C>T (p.Phe216=) rs564074916
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_019098.5(CNGB3):c.843A>G (p.Gly281=) rs1200686449
NM_020166.5(MCCC1):c.156C>A (p.Val52=) rs398124353
NM_020184.4(CNNM4):c.627G>A (p.Leu209=) rs1553474576
NM_020297.4(ABCC9):c.1165-6dup rs35857705
NM_020320.5(RARS2):c.888G>A (p.Thr296=) rs145189950
NM_020433.5(JPH2):c.624C>G (p.Ala208=) rs398124358
NM_020631.6(PLEKHG5):c.2160G>A (p.Glu720=) rs867638588
NM_020631.6(PLEKHG5):c.997C>A (p.Arg333=) rs148232621
NM_020822.3(KCNT1):c.1620-15_1620-5dup rs761464076
NM_020975.6(RET):c.2284+54C>A rs566375223
NM_020975.6(RET):c.44TGC[8] (p.Leu19_Pro20insLeuLeuLeu) rs768132465
NM_021072.4(HCN1):c.336C>A (p.Arg112=) rs794726951
NM_021728.4(OTX2):c.444G>C (p.Pro148=) rs147896150
NM_021939.4(FKBP10):c.1029C>T (p.Ile343=) rs782632205
NM_021939.4(FKBP10):c.21C>T (p.Pro7=) rs781985978
NM_021939.4(FKBP10):c.246-5C>G rs140027863
NM_022124.6(CDH23):c.10036G>C (p.Glu3346Gln) rs562525508
NM_022124.6(CDH23):c.2532C>T (p.Asn844=) rs756454038
NM_022124.6(CDH23):c.3477G>C (p.Leu1159=) rs1564759522
NM_022124.6(CDH23):c.5130C>A (p.Ile1710=) rs111033487
NM_022124.6(CDH23):c.6108C>T (p.Ile2036=) rs749235545
NM_022436.3(ABCG5):c.1311C>T (p.Asn437=) rs575266356
NM_022436.3(ABCG5):c.139G>A (p.Val47Ile) rs72542426
NM_022436.3(ABCG5):c.550C>T (p.Leu184=) rs762951266
NM_022437.3(ABCG8):c.1024G>T (p.Ala342Ser) rs145373839
NM_022437.3(ABCG8):c.1285A>G (p.Met429Val) rs147194762
NM_022437.3(ABCG8):c.1293C>A (p.Ile431=) rs202176869
NM_022437.3(ABCG8):c.1756+6G>A rs375563605
NM_022437.3(ABCG8):c.1756+6G>T rs375563605
NM_022437.3(ABCG8):c.1757-4C>G rs765522418
NM_022437.3(ABCG8):c.1884+9G>A rs759152941
NM_022437.3(ABCG8):c.1885-7T>C rs1485558944
NM_022437.3(ABCG8):c.576C>A (p.Ile192=) rs148058949
NM_022437.3(ABCG8):c.768C>T (p.Ser256=) rs1558811634
NM_022455.5(NSD1):c.1260A>G (p.Lys420=) rs1397377820
NM_022455.5(NSD1):c.2309G>T (p.Gly770Val) rs375566261
NM_022455.5(NSD1):c.3383C>T (p.Ser1128Phe) rs559441081
NM_022455.5(NSD1):c.4564G>T (p.Asp1522Tyr) rs201483724
NM_022455.5(NSD1):c.750AGC[1] (p.Ala252del) rs398124385
NM_022455.5(NSD1):c.7632C>T (p.Ala2544=) rs886042468
NM_024009.3(GJB3):c.652_663del (p.Leu218_Asp221del) rs727503069
NM_024408.4(NOTCH2):c.15C>G (p.Arg5=) rs4021006
NM_024408.4(NOTCH2):c.3789A>C (p.Gly1263=) rs149036937
NM_024408.4(NOTCH2):c.5781+10A>C rs369586235
NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=) rs144873879
NM_024596.5(MCPH1):c.216G>A (p.Ser72=) rs775942126
NM_024596.5(MCPH1):c.433C>T (p.Leu145=) rs139607465
NM_024608.4(NEIL1):c.314dup (p.Pro106fs) rs556576971
NM_024757.5(EHMT1):c.35G>C (p.Arg12Thr) rs777999570
NM_024757.5(EHMT1):c.390G>A (p.Pro130=) rs144323841
NM_025074.7(FRAS1):c.4365G>C (p.Ala1455=) rs375417798
NM_025074.7(FRAS1):c.4857A>G (p.Val1619=) rs886044144
NM_025114.4(CEP290):c.2067G>A (p.Lys689=) rs1425613490
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.251-19dup rs752284551
NM_025243.4(SLC19A3):c.*8G>A rs188532608
NM_025243.4(SLC19A3):c.399C>G (p.Pro133=) rs138363524
NM_025265.4(TSEN2):c.560G>C (p.Arg187Pro) rs146117200
NM_030665.4(RAI1):c.3270C>G (p.Ala1090=) rs398124416
NM_030665.4(RAI1):c.834GCA[17] (p.Gln288_Gln291dup) rs371983878
NM_030665.4(RAI1):c.834GCA[6] (p.Gln285_Gln291del) rs371983878
NM_030665.4(RAI1):c.849G>A (p.Gln283=) rs886042730
NM_030753.5(WNT3):c.309C>A (p.Pro103=) rs749737942
NM_032119.4(ADGRV1):c.11157C>A (p.Ile3719=) rs762094907
NM_032119.4(ADGRV1):c.13130C>A (p.Pro4377His) rs542081391
NM_032119.4(ADGRV1):c.14432C>T (p.Pro4811Leu) rs201747452
NM_032119.4(ADGRV1):c.14928C>T (p.His4976=) rs1251473317
NM_032119.4(ADGRV1):c.15837C>A (p.Ile5279=) rs765630970
NM_032119.4(ADGRV1):c.16248C>G (p.Val5416=) rs3763073
NM_032119.4(ADGRV1):c.17215A>G (p.Ile5739Val) rs747089219
NM_032119.4(ADGRV1):c.18433-9_18433-5del rs35858094
NM_032119.4(ADGRV1):c.2106G>A (p.Val702=) rs749630454
NM_032119.4(ADGRV1):c.5784C>T (p.Ser1928=) rs199605700
NM_032119.4(ADGRV1):c.5785G>T (p.Ala1929Ser) rs41311335
NM_032119.4(ADGRV1):c.5830G>T (p.Asp1944Tyr) rs41302834
NM_032119.4(ADGRV1):c.5953A>C (p.Asn1985His) rs41303352
NM_032119.4(ADGRV1):c.600A>G (p.Pro200=) rs776978539
NM_032119.4(ADGRV1):c.6290G>A (p.Arg2097His) rs572910896
NM_032119.4(ADGRV1):c.7095G>A (p.Leu2365=) rs794727564
NM_032856.5(WDR73):c.1132dup (p.Arg378fs) rs747109506
NM_033056.4(PCDH15):c.5245CCT[3] (p.Pro1752del) rs397517462
NM_033056.4(PCDH15):c.5296_5304dup (p.Ala1766_Pro1768dup) rs397517466
NM_033056.4(PCDH15):c.5630_5633del (p.Arg1877fs) rs794727570
NM_033337.3(CAV3):c.312G>A (p.Val104=) rs794727305
NM_033337.3(CAV3):c.399C>T (p.Phe133=) rs769859957
NM_033337.3(CAV3):c.402G>C (p.Ala134=) rs559206877
NM_033641.4(COL4A6):c.2685G>T (p.Lys895Asn) rs150454971
NM_052867.4(NALCN):c.4977C>G (p.Asp1659Glu) rs78817184
NM_058246.4(DNAJB6):c.429G>A (p.Ala143=) rs150709673
NM_080680.3(COL11A2):c.1180-4A>G rs1554221961
NM_080680.3(COL11A2):c.1637G>A (p.Arg546Gln) rs199866657
NM_080680.3(COL11A2):c.4767C>T (p.Asp1589=) rs886044178
NM_130837.3(OPA1):c.113_130del (p.Arg38_Ser43del) rs863224140
NM_130837.3(OPA1):c.2441-4C>G rs763386320
NM_133261.3(GIPC3):c.855C>G (p.Ser285=) rs766192644
NM_133378.4(TTN):c.37385_37387delAAG rs759525338
NM_133379.5(TTN):c.12699T>C (p.Ala4233=) rs185931752
NM_133379.5(TTN):c.15313C>A (p.Arg5105=) rs376396183
NM_133433.4(NIPBL):c.5863-31TA[11] rs10554564
NM_133433.4(NIPBL):c.6322G>A (p.Ala2108Thr) rs587784006
NM_138694.4(PKHD1):c.10251C>T (p.Ser3417=) rs372394177
NM_138694.4(PKHD1):c.10411G>A (p.Val3471Ile) rs553752644
NM_138694.4(PKHD1):c.10893T>C (p.Tyr3631=) rs1290859259
NM_138694.4(PKHD1):c.12147G>A (p.Glu4049=) rs1561967407
NM_138694.4(PKHD1):c.4257G>A (p.Arg1419=) rs577832997
NM_138694.4(PKHD1):c.5133C>T (p.Ala1711=) rs144841026
NM_138694.4(PKHD1):c.528-17dup rs753686281
NM_138694.4(PKHD1):c.8174-18dup rs566540835
NM_138694.4(PKHD1):c.9369G>T (p.Ala3123=) rs745523374
NM_138735.4(NRXN1):c.49GGC[11] (p.Gly17[11]) rs750165040
NM_139058.3(ARX):c.1300GCC[8] (p.Ala440dup) rs398124508
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup) rs387906492
NM_139058.3(ARX):c.306GGC[6] (p.Ala112_Ala115del) rs387906492
NM_139125.4(MASP1):c.1773C>T (p.Ala591=) rs753546269
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_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup) rs386834068
NM_153240.5(NPHP3):c.1525-5del rs762115717
NM_153240.5(NPHP3):c.171C>A (p.Pro57=) rs778581370
NM_153240.5(NPHP3):c.1853T>C (p.Ile618Thr) rs139730838
NM_153240.5(NPHP3):c.3697-14dup rs564013823
NM_153717.3(EVC):c.1940G>A (p.Arg647Gln) rs35401386
NM_170699.3(GPBAR1):c.975C>A (p.Val325=) rs202200326
NM_170699.3(GPBAR1):c.975C>T (p.Val325=) rs202200326
NM_170707.4(LMNA):c.1122C>T (p.His374=) rs143715750
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1599C>T (p.Ser533=) rs886043346
NM_170707.4(LMNA):c.1827A>T (p.Gly609=) rs1558135172
NM_170707.4(LMNA):c.483G>A (p.Glu161=) rs1553264647
NM_172107.4(KCNQ2):c.1503C>T (p.Ala501=) rs1801545
NM_172364.5(CACNA2D4):c.2046C>T (p.Ala682=) rs116214586
NM_173660.5(DOK7):c.1305C>A (p.Gly435=) rs201894731
NM_173660.5(DOK7):c.1313C>G (p.Thr438Arg) rs376805794
NM_173660.5(DOK7):c.918C>T (p.Ala306=) rs141947707
NM_174936.4(PCSK9):c.45GCT[10] (p.Leu21_Leu23dup) rs35574083
NM_175737.4(KLB):c.2329_2331del (p.Phe777del) rs549659598
NM_175875.5(SIX5):c.1872C>T (p.Pro624=) rs373614429
NM_175875.5(SIX5):c.1943C>T (p.Pro648Leu) rs140816771
NM_182914.3(SYNE2):c.12109-10_12109-7del rs755277543
NM_182961.3(SYNE1):c.23146-7dup rs770820426
NM_182961.4(SYNE1):c.10503A>G (p.Leu3501=) rs1563330296
NM_182961.4(SYNE1):c.1062C>T (p.Phe354=) rs1057523855
NM_182961.4(SYNE1):c.10869C>T (p.Pro3623=) rs1554523565
NM_182961.4(SYNE1):c.12585G>A (p.Lys4195=) rs149536991
NM_182961.4(SYNE1):c.1290C>T (p.Thr430=) rs755709525
NM_182961.4(SYNE1):c.14106C>T (p.Thr4702=) rs146180064
NM_182961.4(SYNE1):c.14955+4G>C rs535755402
NM_182961.4(SYNE1):c.16984C>T (p.Arg5662Cys) rs145899734
NM_182961.4(SYNE1):c.21639G>A (p.Leu7213=) rs886043685
NM_182961.4(SYNE1):c.23791-6del rs757124573
NM_182961.4(SYNE1):c.23979-7G>C rs376918337
NM_182961.4(SYNE1):c.24723C>T (p.His8241=) rs141586001
NM_182961.4(SYNE1):c.393A>C (p.Leu131=) rs139291592
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=) rs146789107
NM_182961.4(SYNE1):c.5877A>G (p.Val1959=) rs1057522688
NM_182961.4(SYNE1):c.7620G>A (p.Thr2540=) rs142663488
NM_182961.4(SYNE1):c.7713-5T>C rs893217390
NM_182961.4(SYNE1):c.779-4dup rs567435072
NM_182961.4(SYNE1):c.8310C>T (p.Phe2770=) rs749172868
NM_182961.4(SYNE1):c.9375G>C (p.Leu3125=) rs376622495
NM_182961.4(SYNE1):c.9897G>A (p.Ala3299=) rs184006845
NM_183050.4(BCKDHB):c.51A>C (p.Ala17=) rs376293687
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198506.5(LRIT3):c.1752_1754del (p.Leu585del) rs145776307
NM_198525.3(KIF7):c.2236C>T (p.Arg746Trp) rs141867330
NM_198525.3(KIF7):c.2549G>T (p.Arg850Leu) rs141514601
NM_198525.3(KIF7):c.978C>T (p.Val326=) rs555659148
NM_198904.4(GABRG2):c.1113_1115del (p.Lys374del) rs727503941
NM_201384.3(PLEC):c.1002C>T (p.Ala334=) rs370574829
NM_201384.3(PLEC):c.11573C>T (p.Thr3858Met) rs373863249
NM_201384.3(PLEC):c.11724G>T (p.Ala3908=) rs374595008
NM_201384.3(PLEC):c.1191C>A (p.Ile397=) rs781888321
NM_201384.3(PLEC):c.12243C>T (p.Thr4081=) rs185022156
NM_201384.3(PLEC):c.1245C>G (p.Ala415=) rs782527499
NM_201384.3(PLEC):c.1248C>T (p.Asp416=) rs572481168
NM_201384.3(PLEC):c.1263+7_1263+10delinsCAGTCGGTGAGGCAGCAGTCG rs1064794978
NM_201384.3(PLEC):c.13287C>A (p.Gly4429=) rs782581005
NM_201384.3(PLEC):c.13347G>A (p.Ala4449=) rs368660987
NM_201384.3(PLEC):c.13479G>A (p.Ser4493=) rs781929758
NM_201384.3(PLEC):c.1418+10G>C rs782571969
NM_201384.3(PLEC):c.2962G>C (p.Glu988Gln) rs367627441
NM_201384.3(PLEC):c.3375C>G (p.Leu1125=) rs782733038
NM_201384.3(PLEC):c.5444G>A (p.Arg1815Gln) rs782213742
NM_201384.3(PLEC):c.5968G>A (p.Val1990Met) rs201588551
NM_201384.3(PLEC):c.6313_6314delinsAT (p.Ala2105Met) rs886044784
NM_201384.3(PLEC):c.6531G>A (p.Thr2177=) rs782621816
NM_201384.3(PLEC):c.6573G>A (p.Leu2191=) rs1564019780
NM_201384.3(PLEC):c.7370G>C (p.Arg2457Pro) rs199504105
NM_201384.3(PLEC):c.7830G>A (p.Ala2610=) rs376112916
NM_201384.3(PLEC):c.7983C>T (p.Ala2661=) rs376058402
NM_201384.3(PLEC):c.804G>A (p.Val268=) rs1554721745
NM_201384.3(PLEC):c.8506G>A (p.Asp2836Asn) rs200814155
NM_201384.3(PLEC):c.8532G>C (p.Ala2844=) rs782732824
NM_201384.3(PLEC):c.9081G>A (p.Ala3027=) rs199758196
NM_201384.3(PLEC):c.9577G>T (p.Gly3193Cys) rs201402970
NM_201525.4(ADGRG1):c.1537C>T (p.Leu513=) rs762771228
NM_201525.4(ADGRG1):c.2040C>G (p.Gly680=) rs794727146
NM_203486.3(DLL3):c.982G>T (p.Val328Phe) rs749513254
NM_206933.4(USH2A):c.10388-17_10388-7del rs1442627890
NM_206933.4(USH2A):c.13198G>T (p.Ala4400Ser) rs541022183
NM_206933.4(USH2A):c.15306C>G (p.Ala5102=) rs149506333
NM_206933.4(USH2A):c.1891G>A (p.Asp631Asn) rs552400144
NM_206933.4(USH2A):c.2835C>T (p.Ala945=) rs1311224729
NM_206933.4(USH2A):c.4383A>G (p.Gln1461=) rs978359064
NM_206933.4(USH2A):c.6094C>T (p.Leu2032=) rs1385829693
NM_206933.4(USH2A):c.6711C>A (p.Asp2237Glu) rs138959688
NM_206933.4(USH2A):c.7527G>T (p.Arg2509=) rs575939496
NM_206933.4(USH2A):c.7718G>A (p.Arg2573His) rs189748047
NM_206933.4(USH2A):c.8709C>T (p.Phe2903=) rs397518040
NM_206933.4(USH2A):c.8778G>A (p.Glu2926=) rs374146074
NM_206933.4(USH2A):c.9958+8G>T rs370383574
NM_207361.6(FREM2):c.7329T>A (p.Pro2443=) rs1303270704
NM_213599.3(ANO5):c.1222C>T (p.Leu408=) rs997655691
NM_213599.3(ANO5):c.2688C>G (p.Ala896=) rs377549896
NM_213599.3(ANO5):c.295-8dup rs778435515
NM_213599.3(ANO5):c.879-7_879-6del rs143977836
Single allele

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.