ClinVar Miner

Variants with conflicting interpretations "uncertain significance" from GeneDx and "benign" from any submitter

Minimum review status of the submission from GeneDx: Collection method of the submission from GeneDx:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 1200
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HGVS dbSNP gnomAD frequency
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) rs17602729 0.08701
NM_004972.4(JAK2):c.1177C>G (p.Leu393Val) rs2230723 0.01376
NM_001278689.2(EOGT):c.562A>T (p.Lys188Ter) rs116711473 0.00908
NM_000552.5(VWF):c.4196G>A (p.Arg1399His) rs1800382 0.00907
NM_001142864.4(PIEZO1):c.5828G>A (p.Arg1943Gln) rs115799619 0.00868
NM_001080413.3(NOBOX):c.271G>T (p.Gly91Trp) rs77587352 0.00850
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met) rs121908147 0.00835
NM_025216.3(WNT10A):c.493G>A (p.Gly165Arg) rs77583146 0.00755
NM_014244.5(ADAMTS2):c.68T>C (p.Leu23Pro) rs565885690 0.00707
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839 0.00687
NM_000035.4(ALDOB):c.-214G>A rs185972191 0.00678
NM_172364.5(CACNA2D4):c.2109G>C (p.Glu703Asp) rs77175207 0.00615
NM_198428.3(BBS9):c.1280C>T (p.Ala427Val) rs138072724 0.00599
NM_176824.3(BBS7):c.1505A>G (p.His502Arg) rs114718913 0.00589
NM_000085.5(CLCNKB):c.1297+5G>T rs35351345 0.00544
NM_004318.4(ASPH):c.518del (p.Asp173fs) rs80163539 0.00541
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394 0.00532
NM_000562.3(C8A):c.856-12G>A rs74075638 0.00519
NM_017671.5(FERMT1):c.1600G>A (p.Ala534Thr) rs2232078 0.00503
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397 0.00495
NM_001378778.1(MPDZ):c.3582T>G (p.Ser1194Arg) rs188840960 0.00490
NM_005689.4(ABCB6):c.1762G>A (p.Gly588Ser) rs145526996 0.00431
NM_000186.4(CFH):c.2850G>T (p.Gln950His) rs149474608 0.00425
NM_000350.3(ABCA4):c.4925G>T (p.Ser1642Ile) rs114518437 0.00425
NM_032581.4(HYCC1):c.1492A>G (p.Thr498Ala) rs143894913 0.00421
NM_019892.6(INPP5E):c.1730C>G (p.Pro577Arg) rs147967974 0.00405
NM_000552.5(VWF):c.5170+10C>T rs61750601 0.00400
NM_001098.3(ACO2):c.220C>G (p.Leu74Val) rs141772938 0.00383
NM_000275.3(OCA2):c.1109T>C (p.Ile370Thr) rs34731820 0.00369
NM_000104.4(CYP1B1):c.241T>A (p.Tyr81Asn) rs9282671 0.00362
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_001379180.1(ESRRB):c.*1474T>C rs188462546 0.00354
NM_001199.4(BMP1):c.2161C>T (p.Arg721Ter) rs116360985 0.00352
NM_019098.5(CNGB3):c.1492T>A (p.Leu498Met) rs115246141 0.00350
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) rs147025508 0.00338
NM_003235.5(TG):c.4484T>C (p.Val1495Ala) rs61740825 0.00330
NM_005529.7(HSPG2):c.2074G>A (p.Val692Met) rs143669458 0.00326
NM_152515.5(CKAP2L):c.77A>G (p.Lys26Arg) rs35593767 0.00324
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg) rs75977701 0.00316
NM_000440.3(PDE6A):c.1546C>G (p.Leu516Val) rs61733362 0.00312
NM_000518.4(HBB):c.-133G>A rs72561473 0.00312
NM_033004.4(NLRP1):c.2605G>A (p.Glu869Lys) rs146505967 0.00309
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677 0.00308
NM_001277115.2(DNAH11):c.3237T>C (p.Leu1079=) rs72657304 0.00308
NM_001277115.2(DNAH11):c.9935A>T (p.Asp3312Val) rs72657389 0.00307
NM_001370466.1(NOD2):c.2183C>T (p.Ala728Val) rs61747625 0.00307
NM_032977.4(CASP10):c.1216A>T (p.Ile406Leu) rs80358239 0.00307
NM_002528.7(NTHL1):c.113C>T (p.Ala38Val) rs202082304 0.00305
NM_003737.4(DCHS1):c.3263C>T (p.Thr1088Ile) rs150912028 0.00305
NM_019885.4(CYP26B1):c.572G>A (p.Arg191His) rs76025186 0.00305
NM_001166108.2(PALLD):c.1273A>T (p.Thr425Ser) rs140454899 0.00299
NM_005559.4(LAMA1):c.5302G>A (p.Val1768Met) rs73938527 0.00297
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala) rs58806616 0.00296
NM_004285.4(H6PD):c.635C>T (p.Ala212Val) rs143104068 0.00293
NM_000195.5(HPS1):c.478C>T (p.Arg160Trp) rs142893758 0.00290
NM_000939.4(POMC):c.706C>G (p.Arg236Gly) rs28932472 0.00286
NM_006883.2(SHOX):c.676T>C (p.Ter226Arg) rs778160013 0.00286
NM_018136.5(ASPM):c.3599-4A>G rs149303254 0.00284
NM_004252.5(NHERF1):c.203A>C (p.Glu68Ala) rs139622189 0.00281
NM_001378183.1(PIEZO2):c.4958G>A (p.Arg1653Gln) rs190938950 0.00280
NM_004727.3(SLC24A1):c.1859C>T (p.Ala620Val) rs35398714 0.00276
NM_000717.5(CA4):c.709G>T (p.Val237Leu) rs2229178 0.00274
NM_001164277.2(SLC37A4):c.968C>T (p.Thr323Ile) rs202209699 0.00273
NM_022166.4(XYLT1):c.421C>T (p.Arg141Trp) rs74993523 0.00273
NM_000213.5(ITGB4):c.2701C>T (p.Leu901Phe) rs145644205 0.00272
NM_025074.7(FRAS1):c.11907C>G (p.His3969Gln) rs140492803 0.00272
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr) rs35648932 0.00272
NM_002972.4(SBF1):c.1058C>T (p.Pro353Leu) rs185916020 0.00271
NM_000352.6(ABCC8):c.-8G>T rs200091822 0.00270
NM_001128225.3(SLC39A13):c.1037C>T (p.Pro346Leu) rs35978122 0.00270
NM_002439.5(MSH3):c.2511G>A (p.Leu837=) rs149628160 0.00270
NM_004646.4(NPHS1):c.697A>G (p.Thr233Ala) rs35238405 0.00270
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe) rs34226296 0.00268
NM_001114134.2(EPB42):c.256G>T (p.Asp86Tyr) rs113768282 0.00268
NM_001159773.2(CANT1):c.1172G>A (p.Gly391Glu) rs34082669 0.00268
NM_000314.8(PTEN):c.-165C>G rs575260016 0.00267
NM_001377299.1(NDUFS2):c.1355-4C>G rs147235167 0.00265
NM_001384910.1(GUCA1A):c.205G>T (p.Gly69Cys) rs146354667 0.00263
NM_174936.4(PCSK9):c.2037C>A (p.Cys679Ter) rs28362286 0.00262
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_000233.4(LHCGR):c.458+3A>G rs76210637 0.00257
NM_001173990.3(TMEM216):c.211G>T (p.Val71Leu) rs57932685 0.00251
NM_017662.5(TRPM6):c.1421G>A (p.Arg474Gln) rs142043309 0.00251
NM_000243.3(MEFV):c.97G>T (p.Val33Leu) rs11466016 0.00250
NM_004525.3(LRP2):c.1973A>G (p.Tyr658Cys) rs111360923 0.00248
NM_000939.4(POMC):c.583G>A (p.Ala195Thr) rs141309351 0.00247
NM_001368882.1(COL13A1):c.236G>T (p.Arg79Leu) rs200098419 0.00247
NM_020812.4(DOCK6):c.3752G>A (p.Arg1251Gln) rs200390354 0.00245
NM_001349.4(DARS1):c.590G>A (p.Arg197His) rs141522501 0.00244
NM_020937.4(FANCM):c.1040C>T (p.Pro347Leu) rs151071546 0.00243
NM_003923.3(FOXH1):c.47C>T (p.Ser16Leu) rs180724802 0.00241
NM_003235.5(TG):c.6200-7T>A rs79724982 0.00240
NM_005876.5(SPEG):c.6076C>G (p.Arg2026Gly) rs531879999 0.00240
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys) rs35689779 0.00239
NM_004444.5(EPHB4):c.1144G>A (p.Gly382Ser) rs114926839 0.00239
NM_003383.5(VLDLR):c.982A>G (p.Ser328Gly) rs116306908 0.00238
NM_201548.5(CERKL):c.157G>A (p.Glu53Lys) rs141389059 0.00238
NM_194248.3(OTOF):c.245G>A (p.Arg82His) rs149766574 0.00237
NM_025074.7(FRAS1):c.11605A>G (p.Ile3869Val) rs145035489 0.00236
NM_031471.6(FERMT3):c.736G>A (p.Ala246Thr) rs150869428 0.00235
NM_000124.4(ERCC6):c.3745G>A (p.Asp1249Asn) rs114234514 0.00234
NM_002439.5(MSH3):c.2732T>G (p.Leu911Trp) rs41545019 0.00233
NM_003999.3(OSMR):c.1307T>A (p.Val436Asp) rs34324145 0.00232
NM_020964.3(EPG5):c.3965G>A (p.Arg1322His) rs148641800 0.00232
NM_025074.7(FRAS1):c.10594A>G (p.Ile3532Val) rs144715071 0.00232
NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser) rs11575933 0.00232
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_138422.4(ADAT3):c.383G>T (p.Arg128Leu) rs200992550 0.00230
NM_001080.3(ALDH5A1):c.1348G>A (p.Asp450Asn) rs144177566 0.00229
NM_152703.5(SAMD9L):c.1216C>T (p.Arg406Ter) rs150070697 0.00229
NM_001004334.4(GPR179):c.4306C>T (p.Arg1436Trp) rs147966258 0.00228
NM_001244008.2(KIF1A):c.4889G>A (p.Arg1630Gln) rs191428830 0.00228
NM_002470.4(MYH3):c.1411T>C (p.Tyr471His) rs115742228 0.00227
NM_005502.4(ABCA1):c.5774G>A (p.Arg1925Gln) rs142688906 0.00227
NM_001012759.3(CTU2):c.1531G>A (p.Glu511Lys) rs201215099 0.00226
NM_004998.4(MYO1E):c.153T>C (p.Tyr51=) rs113544635 0.00225
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00223
NM_000295.5(SERPINA1):c.922G>T (p.Ala308Ser) rs141620200 0.00222
NM_001039141.3(TRIOBP):c.2149C>G (p.Gln717Glu) rs186620158 0.00221
NM_002439.5(MSH3):c.1571A>C (p.Asn524Thr) rs55724159 0.00220
NM_020745.4(AARS2):c.1162C>T (p.Pro388Ser) rs139372744 0.00220
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg) rs74315416 0.00220
NM_001364905.1(LRBA):c.2444A>G (p.Asn815Ser) rs140666848 0.00218
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575 0.00218
NM_032444.4(SLX4):c.2290C>G (p.Pro764Ala) rs151105762 0.00218
NM_173630.4(RTTN):c.3338G>A (p.Cys1113Tyr) rs117774280 0.00217
NM_001256071.3(RNF213):c.8110C>T (p.Arg2704Trp) rs144074554 0.00216
NM_201384.3(PLEC):c.112+3A>G rs191308779 0.00215
NM_000275.3(OCA2):c.1153T>A (p.Phe385Ile) rs137956605 0.00213
NM_001297.5(CNGB1):c.3340G>A (p.Ala1114Thr) rs200242407 0.00213
NM_001256071.3(RNF213):c.5947C>T (p.Arg1983Trp) rs116608867 0.00212
NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp) rs144888041 0.00212
NM_016239.4(MYO15A):c.7655-7C>G rs191171943 0.00211
NM_018255.4(ELP2):c.224C>G (p.Ser75Cys) rs74438152 0.00210
NM_032444.4(SLX4):c.2103G>C (p.Glu701Asp) rs73505420 0.00210
NM_000441.1(SLC26A4):c.-103T>C rs60284988 0.00209
NM_021098.3(CACNA1H):c.4420C>T (p.Arg1474Trp) rs57105517 0.00209
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_001292063.2(OTOG):c.8476C>T (p.Arg2826Cys) rs191662816 0.00208
NM_001042413.2(GLIS3):c.1430C>T (p.Ala477Val) rs114838275 0.00207
NM_000260.4(MYO7A):c.3086A>G (p.His1029Arg) rs60103800 0.00206
NM_001715.3(BLK):c.81G>A (p.Lys27=) rs149279535 0.00205
NM_005559.4(LAMA1):c.2989C>T (p.Pro997Ser) rs148593258 0.00205
NM_000921.5(PDE3A):c.1801C>A (p.Pro601Thr) rs151312475 0.00204
NM_005612.5(REST):c.2203C>T (p.Pro735Ser) rs141166149 0.00204
NM_014639.4(SKIC3):c.3940G>A (p.Glu1314Lys) rs74664147 0.00203
NM_153816.6(SNX14):c.994-5T>A rs145795023 0.00203
NM_001379500.1(COL18A1):c.3665G>A (p.Arg1222His) rs201006742 0.00202
NM_000726.5(CACNB4):c.44C>G (p.Pro15Arg) rs200662010 0.00201
NM_001374385.1(ATP8B1):c.1286A>C (p.Glu429Ala) rs34018205 0.00201
NM_002439.5(MSH3):c.1469C>A (p.Ser490Tyr) rs76249824 0.00201
NM_003321.5(TUFM):c.1292A>G (p.Asn431Ser) rs146326033 0.00200
NM_005373.3(MPL):c.1654-10T>A rs200460456 0.00196
NM_201550.4(LRRC10):c.521T>C (p.Leu174Pro) rs146361892 0.00196
NM_001361.5(DHODH):c.983C>T (p.Pro328Leu) rs79673084 0.00195
NM_001378609.3(OTOGL):c.3488A>G (p.Asp1163Gly) rs202085918 0.00195
NM_016292.3(TRAP1):c.2053G>A (p.Asp685Asn) rs61756352 0.00195
NM_001142864.4(PIEZO1):c.985C>G (p.Leu329Val) rs114507258 0.00194
NM_006261.5(PROP1):c.425C>T (p.Ala142Val) rs143790367 0.00193
NM_004813.4(PEX16):c.204G>T (p.Glu68Asp) rs149348130 0.00192
NM_002439.5(MSH3):c.2480A>G (p.His827Arg) rs138339194 0.00191
NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe) rs139596860 0.00189
NM_021222.3(PRUNE1):c.640A>G (p.Ile214Val) rs150450383 0.00188
NM_152384.3(BBS5):c.584A>G (p.Asp195Gly) rs143191074 0.00187
NM_206933.4(USH2A):c.3123C>A (p.His1041Gln) rs149304901 0.00187
NM_002742.3(PRKD1):c.1356C>T (p.Thr452=) rs147948478 0.00185
NM_019032.6(ADAMTSL4):c.584C>T (p.Pro195Leu) rs139990606 0.00185
NM_033629.6(TREX1):c.797A>G (p.Glu266Gly) rs55999987 0.00184
NM_000306.4(POU1F1):c.370A>G (p.Met124Val) rs143373007 0.00183
NM_006208.3(ENPP1):c.2757A>T (p.Pro919=) rs73541508 0.00178
NM_000350.3(ABCA4):c.2701A>G (p.Thr901Ala) rs61754030 0.00174
NM_178857.6(RP1L1):c.899C>T (p.Ser300Leu) rs200642524 0.00172
NM_002296.4(LBR):c.866G>A (p.Gly289Glu) rs148541545 0.00171
NM_002439.5(MSH3):c.1897-12T>A rs56244266 0.00171
NM_002875.5(RAD51):c.449G>A (p.Arg150Gln) rs121917739 0.00171
NM_004525.3(LRP2):c.12725A>G (p.Asp4242Gly) rs35942532 0.00171
NM_138295.5(PKD1L1):c.6949C>T (p.Arg2317Trp) rs139293796 0.00171
NM_004817.4(TJP2):c.185C>T (p.Thr62Met) rs138241615 0.00168
NM_001370658.1(BTD):c.202C>G (p.Gln68Glu) rs151071780 0.00167
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) rs147407423 0.00166
NM_016953.4(PDE11A):c.1825G>A (p.Asp609Asn) rs77934668 0.00166
NM_003193.5(TBCE):c.394G>A (p.Val132Ile) rs144448831 0.00164
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_001199107.2(TBC1D24):c.1327G>A (p.Glu443Lys) rs141399869 0.00163
NM_000036.3(AMPD1):c.334G>A (p.Val112Met) rs61741025 0.00162
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142 0.00162
NM_005559.4(LAMA1):c.2900G>A (p.Gly967Asp) rs141851670 0.00161
NM_001004334.4(GPR179):c.5975G>A (p.Gly1992Asp) rs200936863 0.00160
NM_005422.4(TECTA):c.1834G>A (p.Asp612Asn) rs143730090 0.00160
NM_001199799.2(ILDR1):c.227C>T (p.Ala76Val) rs143072070 0.00159
NM_032782.5(HAVCR2):c.245A>G (p.Tyr82Cys) rs184868814 0.00159
NM_178857.6(RP1L1):c.217C>T (p.Pro73Ser) rs202082944 0.00158
NM_002838.5(PTPRC):c.3670G>A (p.Val1224Ile) rs150672767 0.00156
NM_182961.4(SYNE1):c.7433C>G (p.Ser2478Cys) rs149030452 0.00156
NM_000523.4(HOXD13):c.32G>C (p.Gly11Ala) rs536639583 0.00154
NM_001848.3(COL6A1):c.2635A>G (p.Ser879Gly) rs140534207 0.00154
NM_020754.4(ARHGAP31):c.2344C>A (p.Pro782Thr) rs139659618 0.00154
NM_001024630.4(RUNX2):c.1166A>G (p.Asn389Ser) rs115347084 0.00151
NM_001366110.1(PAX4):c.133C>T (p.Arg45Trp) rs35155575 0.00151
NM_012079.6(DGAT1):c.797A>G (p.Asn266Ser) rs146196839 0.00151
NM_001177316.2(SLC34A3):c.756G>A (p.Gln252=) rs121918239 0.00149
NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser) rs148072630 0.00148
NM_001080413.3(NOBOX):c.362C>T (p.Pro121Leu) rs187273709 0.00147
NM_001369268.1(ACAN):c.230G>A (p.Arg77His) rs199701329 0.00147
NM_003361.4(UMOD):c.1375C>T (p.Arg459Trp) rs139607138 0.00146
NM_005422.4(TECTA):c.625-4G>T rs142007879 0.00146
NM_005732.4(RAD50):c.379G>A (p.Val127Ile) rs28903086 0.00146
NM_014467.3(SRPX2):c.1030C>A (p.Leu344Ile) rs149051060 0.00145
NM_005732.4(RAD50):c.943G>T (p.Val315Leu) rs28903090 0.00141
NM_014915.3(ANKRD26):c.3007G>A (p.Glu1003Lys) rs41304587 0.00141
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229 0.00140
NM_004431.5(EPHA2):c.2239G>A (p.Val747Ile) rs145592908 0.00139
NM_001355436.2(SPTB):c.5050C>T (p.Arg1684Cys) rs141226650 0.00138
NM_173500.4(TTBK2):c.1105C>T (p.Pro369Ser) rs202237707 0.00137
NM_003126.4(SPTA1):c.5378G>A (p.Arg1793Gln) rs200938874 0.00136
NM_001367624.2(ZNF469):c.10330G>C (p.Gly3444Arg) rs569602115 0.00135
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_001177316.2(SLC34A3):c.493G>A (p.Val165Ile) rs146054276 0.00134
NM_020987.5(ANK3):c.5137G>A (p.Val1713Ile) rs544357242 0.00134
NM_002156.5(HSPD1):c.425G>A (p.Arg142Lys) rs61755731 0.00131
NM_002439.5(MSH3):c.2740A>G (p.Ile914Val) rs148633216 0.00130
NM_017654.4(SAMD9):c.4724G>A (p.Gly1575Glu) rs148724199 0.00129
NM_020639.3(RIPK4):c.832+2T>C rs146341788 0.00129
NM_006231.4(POLE):c.296C>T (p.Pro99Leu) rs5744739 0.00127
NM_182476.3(COQ6):c.1009A>G (p.Arg337Gly) rs139010315 0.00127
NM_000278.5(PAX2):c.932C>T (p.Ala311Val) rs78738655 0.00126
NM_001378609.3(OTOGL):c.2456C>T (p.Ser819Leu) rs199855270 0.00126
NM_018685.5(ANLN):c.143G>A (p.Ser48Asn) rs138687537 0.00126
NM_173076.3(ABCA12):c.485C>T (p.Ala162Val) rs149399707 0.00126
NM_004320.6(ATP2A1):c.159G>A (p.Val53=) rs148925426 0.00125
NM_001122681.2(SH3BP2):c.937G>A (p.Gly313Arg) rs141518457 0.00123
NM_004655.4(AXIN2):c.2428G>A (p.Asp810Asn) rs140344858 0.00123
NM_004936.4(CDKN2B):c.256G>A (p.Asp86Asn) rs148421170 0.00123
NM_032387.5(WNK4):c.1885C>T (p.Arg629Cys) rs61755600 0.00123
NM_001009944.3(PKD1):c.4654G>A (p.Val1552Ile) rs149874529 0.00121
NM_001378609.3(OTOGL):c.917C>T (p.Pro306Leu) rs200050988 0.00121
NM_002291.3(LAMB1):c.2723T>C (p.Ile908Thr) rs139487685 0.00121
NM_003332.4(TYROBP):c.46C>T (p.Leu16=) rs147393700 0.00121
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile) rs150860808 0.00120
NM_001089.3(ABCA3):c.3784A>G (p.Ser1262Gly) rs35089233 0.00117
NM_001715.3(BLK):c.974A>C (p.Lys325Thr) rs77401687 0.00117
NM_170707.4(LMNA):c.1930C>T (p.Arg644Cys) rs142000963 0.00117
NM_003742.4(ABCB11):c.3548T>C (p.Ile1183Thr) rs143484849 0.00116
NM_003977.4(AIP):c.68G>A (p.Gly23Glu) rs116940576 0.00115
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_004924.6(ACTN4):c.2680G>A (p.Gly894Ser) rs141002044 0.00113
NM_001166108.2(PALLD):c.1394G>A (p.Arg465His) rs115372194 0.00111
NM_001367624.2(ZNF469):c.2297G>A (p.Arg766Gln) rs144492145 0.00111
NM_005732.4(RAD50):c.3253A>G (p.Ile1085Val) rs143189763 0.00111
NM_173560.4(RFX6):c.2039C>A (p.Thr680Lys) rs146081967 0.00111
NM_000044.6(AR):c.1424C>T (p.Ala475Val) rs200390780 0.00110
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile) rs146571352 0.00109
NM_001142800.2(EYS):c.2039T>C (p.Ile680Thr) rs376807770 0.00108
NM_001166108.2(PALLD):c.909A>T (p.Arg303Ser) rs138897963 0.00108
NM_003126.4(SPTA1):c.2600C>A (p.Ala867Glu) rs115877891 0.00108
NM_006267.5(RANBP2):c.783-6T>C rs138540027 0.00108
NM_025074.7(FRAS1):c.641C>T (p.Pro214Leu) rs200053639 0.00108
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750 0.00107
NM_001399.5(EDA):c.458G>A (p.Arg153His) rs140642493 0.00106
NM_022124.6(CDH23):c.9670C>T (p.Arg3224Trp) rs111033457 0.00106
NM_178857.6(RP1L1):c.326_327insT (p.Lys111fs) rs771427543 0.00106
NM_022124.6(CDH23):c.2865C>T (p.Arg955=) rs79636933 0.00105
NM_181882.3(PRX):c.3186G>T (p.Lys1062Asn) rs139188673 0.00105
NM_001378609.3(OTOGL):c.1815G>T (p.Gln605His) rs192234924 0.00101
NM_003742.4(ABCB11):c.2811A>T (p.Gly937=) rs192375476 0.00101
NM_000350.3(ABCA4):c.317A>T (p.Tyr106Phe) rs201150919 0.00100
NM_000455.5(STK11):c.894C>A (p.Phe298Leu) rs199681533 0.00100
NM_000040.3(APOC3):c.127G>A (p.Ala43Thr) rs147210663 0.00098
NM_000094.4(COL7A1):c.5819C>T (p.Pro1940Leu) rs149267939 0.00098
NM_003126.4(SPTA1):c.3357G>C (p.Lys1119Asn) rs200230894 0.00098
NM_003640.5(ELP1):c.3280A>G (p.Arg1094Gly) rs146440397 0.00098
NM_005883.3(APC2):c.209C>T (p.Thr70Met) rs144391493 0.00098
NM_014846.4(WASHC5):c.647C>T (p.Pro216Leu) rs72720524 0.00098
NM_000751.3(CHRND):c.1400G>A (p.Arg467His) rs148939701 0.00096
NM_002470.4(MYH3):c.4082C>T (p.Ala1361Val) rs140218185 0.00096
NM_033305.3(VPS13A):c.5265C>T (p.Gly1755=) rs143021112 0.00096
NM_001374385.1(ATP8B1):c.607A>G (p.Lys203Glu) rs56355310 0.00095
NM_017636.4(TRPM4):c.2740A>T (p.Lys914Ter) rs140799936 0.00094
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776 0.00091
NM_000310.4(PPT1):c.904A>G (p.Ile302Val) rs146902902 0.00091
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe) rs200092211 0.00091
NM_032977.4(CASP10):c.1502C>T (p.Pro501Leu) rs148939095 0.00091
NM_174916.3(UBR1):c.4895C>T (p.Ala1632Val) rs141227308 0.00091
NM_000350.3(ABCA4):c.1411G>A (p.Glu471Lys) rs1800548 0.00090
NM_001384732.1(CPLANE1):c.4517A>G (p.His1506Arg) rs141911199 0.00090
NM_000400.4(ERCC2):c.1775G>A (p.Arg592His) rs147224585 0.00089
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145 0.00089
NM_006946.4(SPTBN2):c.6797C>T (p.Ala2266Val) rs145891813 0.00089
NM_001292063.2(OTOG):c.4314C>T (p.Val1438=) rs150138913 0.00088
NM_001854.4(COL11A1):c.328G>C (p.Gly110Arg) rs141978499 0.00088
NM_152722.5(HEPACAM):c.1072G>A (p.Ala358Thr) rs536963649 0.00087
NM_000316.3(PTH1R):c.1710C>T (p.Gly570=) rs112382430 0.00086
NM_019098.5(CNGB3):c.1534A>G (p.Ile512Val) rs146062161 0.00086
NM_001457.4(FLNB):c.2494G>A (p.Ala832Thr) rs114804033 0.00085
NM_001013838.3(CARMIL2):c.3554A>C (p.Glu1185Ala) rs200875393 0.00084
NM_206933.4(USH2A):c.5048A>G (p.Asn1683Ser) rs140080678 0.00084
NM_001927.4(DES):c.785A>T (p.Glu262Val) rs147327878 0.00083
NM_002335.4(LRP5):c.2234C>T (p.Ala745Val) rs148550774 0.00083
NM_003394.4(WNT10B):c.229C>T (p.His77Tyr) rs151284263 0.00083
NM_139076.3(ABRAXAS1):c.755G>A (p.Arg252Gln) rs114513239 0.00083
NM_001367624.2(ZNF469):c.11425G>A (p.Glu3809Lys) rs201834513 0.00081
NM_006946.4(SPTBN2):c.157+5G>A rs150159444 0.00081
NM_022089.4(ATP13A2):c.1309C>G (p.Leu437Val) rs149372969 0.00081
NM_002181.4(IHH):c.857C>T (p.Pro286Leu) rs140093604 0.00080
NM_000051.4(ATM):c.7928-10T>C rs188404773 0.00079
NM_032545.4(CFC1):c.522del (p.Ala175fs) rs746231039 0.00079
NM_033163.5(FGF8):c.77C>T (p.Pro26Leu) rs137852660 0.00079
NM_001430.5(EPAS1):c.1104G>A (p.Met368Ile) rs61757375 0.00078
NM_004608.4(TBX6):c.815G>A (p.Arg272Gln) rs201231713 0.00078
NM_001378969.1(KCND3):c.1456A>G (p.Thr486Ala) rs149008060 0.00077
NM_002335.4(LRP5):c.1413-7T>A rs141889567 0.00077
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met) rs61753019 0.00076
NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser) rs104895467 0.00076
NM_005138.3(SCO2):c.341G>A (p.Arg114His) rs145100473 0.00076
NM_001089.3(ABCA3):c.160G>A (p.Ala54Thr) rs147278907 0.00075
NM_004369.4(COL6A3):c.5610C>A (p.Ser1870Arg) rs113153193 0.00075
NM_015046.7(SETX):c.3010A>G (p.Asn1004Asp) rs77984885 0.00075
NM_206933.4(USH2A):c.12046G>A (p.Val4016Met) rs138803855 0.00075
NM_000719.7(CACNA1C):c.6272A>G (p.Asn2091Ser) rs201090446 0.00074
NM_004369.4(COL6A3):c.775G>A (p.Ala259Thr) rs141609058 0.00074
NM_199355.4(ADAMTS18):c.37G>C (p.Ala13Pro) rs751818903 0.00074
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His) rs137932199 0.00073
NM_005422.4(TECTA):c.2604G>T (p.Thr868=) rs139509847 0.00073
NM_001035.3(RYR2):c.7619A>G (p.His2540Arg) rs200105499 0.00072
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp) rs138081804 0.00072
NM_005502.4(ABCA1):c.3053A>G (p.Asp1018Gly) rs140365800 0.00072
NM_024685.4(BBS10):c.765G>A (p.Met255Ile) rs139658279 0.00072
NM_000346.4(SOX9):c.531G>A (p.Arg177=) rs144824678 0.00071
NM_001145809.2(MYH14):c.394G>A (p.Gly132Ser) rs199910006 0.00071
NM_001378452.1(ITPR1):c.7099G>A (p.Ala2367Thr) rs201144431 0.00071
NM_001379500.1(COL18A1):c.2890C>T (p.Arg964Trp) rs371106773 0.00071
NM_014633.5(CTR9):c.3149A>G (p.Lys1050Arg) rs141131642 0.00071
NM_133379.5(TTN):c.11075G>C (p.Ser3692Thr) rs147314430 0.00071
NM_001243133.2(NLRP3):c.1463G>A (p.Arg488Lys) rs145268073 0.00070
NM_004525.3(LRP2):c.1176C>T (p.Gly392=) rs369145798 0.00070
NM_006796.3(AFG3L2):c.793G>A (p.Ala265Thr) rs149605021 0.00069
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile) rs45620037 0.00068
NM_001142864.4(PIEZO1):c.1591C>T (p.Arg531Cys) rs146505418 0.00068
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356 0.00068
NM_017837.4(PIGV):c.1369C>T (p.Leu457Phe) rs143676075 0.00068
NM_153676.4(USH1C):c.2167C>T (p.Gln723Ter) rs146451547 0.00068
NM_000719.7(CACNA1C):c.911T>C (p.Ile304Thr) rs201756421 0.00066
NM_001378969.1(KCND3):c.5C>A (p.Ala2Glu) rs201340369 0.00066
NM_005529.7(HSPG2):c.9564G>C (p.Gln3188His) rs149644947 0.00066
NM_020191.4(MRPS22):c.938C>T (p.Ser313Leu) rs147932653 0.00066
NM_005732.4(RAD50):c.671G>A (p.Arg224His) rs28903088 0.00065
NM_007194.4(CHEK2):c.-6G>A rs376995740 0.00065
NM_014855.3(AP5Z1):c.1964C>T (p.Ser655Leu) rs61750324 0.00065
NM_032638.5(GATA2):c.121C>G (p.Pro41Ala) rs143590990 0.00064
NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp) rs148046938 0.00063
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr) rs35698242 0.00063
NM_004304.5(ALK):c.932G>A (p.Arg311His) rs150966028 0.00063
NM_016239.4(MYO15A):c.3622C>T (p.Arg1208Cys) rs201618718 0.00063
NM_005422.4(TECTA):c.1502C>T (p.Ser501Phe) rs148426950 0.00062
NM_001243133.2(NLRP3):c.1639A>T (p.Ser547Cys) rs139833874 0.00061
NM_001367624.2(ZNF469):c.7573C>G (p.Pro2525Ala) rs574478833 0.00061
NM_001367624.2(ZNF469):c.8860T>C (p.Trp2954Arg) rs557063759 0.00061
NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys) rs140512665 0.00061
NM_006946.4(SPTBN2):c.6751C>T (p.Arg2251Trp) rs150607879 0.00061
NM_002691.4(POLD1):c.883G>A (p.Val295Met) rs199545019 0.00060
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr) rs140736646 0.00060
NM_005726.6(TSFM):c.760C>T (p.Arg254Cys) rs200132571 0.00060
NM_022114.4(PRDM16):c.934G>A (p.Asp312Asn) rs191798831 0.00060
NM_000334.4(SCN4A):c.1462G>A (p.Ala488Thr) rs185941768 0.00059
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys) rs146505280 0.00059
NM_194248.3(OTOF):c.4216G>A (p.Asp1406Asn) rs111033352 0.00059
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_001142864.4(PIEZO1):c.6905G>A (p.Arg2302His) rs200555745 0.00058
NM_001374736.1(DST):c.2042G>A (p.Arg681His) rs143101723 0.00058
NM_001927.4(DES):c.656C>T (p.Thr219Ile) rs144901249 0.00058
NM_002972.4(SBF1):c.3157C>T (p.Arg1053Trp) rs202156491 0.00058
NM_006158.5(NEFL):c.1610A>G (p.Gln537Arg) rs377121179 0.00058
NM_138694.4(PKHD1):c.2194G>T (p.Val732Phe) rs201432731 0.00058
NM_000335.5(SCN5A):c.568C>G (p.Arg190Gly) rs199473068 0.00057
NM_001142864.4(PIEZO1):c.6836G>A (p.Arg2279His) rs577357377 0.00057
NM_001289104.2(PRKCSH):c.1055C>T (p.Pro352Leu) rs201537803 0.00057
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp) rs138828590 0.00056
NM_001142864.4(PIEZO1):c.3437C>T (p.Pro1146Leu) rs538640563 0.00056
NM_001292063.2(OTOG):c.7534C>T (p.Arg2512Cys) rs533820347 0.00056
NM_001397406.1(FDX2):c.201-8G>A rs201352690 0.00056
NM_015160.3(PMPCA):c.476G>T (p.Gly159Val) rs143813417 0.00055
NM_032409.3(PINK1):c.558G>C (p.Lys186Asn) rs143204084 0.00055
NM_004793.4(LONP1):c.83G>C (p.Gly28Ala) rs541961432 0.00054
NM_000261.2(MYOC):c.648G>A (p.Lys216=) rs141584495 0.00053
NM_001367624.2(ZNF469):c.697G>A (p.Asp233Asn) rs538330967 0.00053
NM_002087.4(GRN):c.393C>G (p.Phe131Leu) rs149180605 0.00052
NM_004444.5(EPHB4):c.1692-6C>A rs202035530 0.00052
NM_004999.4(MYO6):c.1030G>A (p.Val344Ile) rs199798449 0.00052
NM_014332.3(SMPX):c.132G>A (p.Glu44=) rs199907508 0.00052
NM_014915.3(ANKRD26):c.1998A>G (p.Lys666=) rs372489280 0.00052
NM_000190.4(HMBS):c.257A>T (p.Glu86Val) rs150763621 0.00051
NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr) rs112467954 0.00051
NM_003361.4(UMOD):c.1406C>T (p.Thr469Met) rs143583842 0.00051
NM_014844.5(TECPR2):c.4033G>A (p.Ala1345Thr) rs77170608 0.00051
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys) rs200038092 0.00051
NM_000041.4(APOE):c.761T>A (p.Val254Glu) rs199768005 0.00050
NM_001202.6(BMP4):c.345C>T (p.Asn115=) rs143687498 0.00050
NM_002473.6(MYH9):c.5542C>G (p.Leu1848Val) rs201174456 0.00050
NM_001384140.1(PCDH15):c.4671+1046A>G rs201855435 0.00049
NM_003002.4(SDHD):c.278A>G (p.Tyr93Cys) rs142135772 0.00049
NM_016239.4(MYO15A):c.4497G>T (p.Glu1499Asp) rs149813580 0.00049
NM_178172.6(GPIHBP1):c.368G>A (p.Gly123Glu) rs201685731 0.00049
NM_000334.4(SCN4A):c.3001C>T (p.Arg1001Cys) rs199713025 0.00048
NM_001355436.2(SPTB):c.4075C>T (p.Arg1359Trp) rs189656371 0.00048
NM_001845.6(COL4A1):c.7C>A (p.Pro3Thr) rs751749989 0.00048
NM_000208.4(INSR):c.41T>C (p.Leu14Pro) rs745857330 0.00047
NM_001035.3(RYR2):c.8209-3A>G rs376788358 0.00047
NM_004972.4(JAK2):c.1711G>A (p.Gly571Ser) rs139504737 0.00047
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_000452.3(SLC10A2):c.80A>G (p.Asn27Ser) rs147075283 0.00046
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr) rs727504718 0.00046
NM_005422.4(TECTA):c.2638A>G (p.Thr880Ala) rs143315827 0.00046
NM_005422.4(TECTA):c.3704A>G (p.Asn1235Ser) rs200852252 0.00046
NM_005422.4(TECTA):c.3896A>G (p.Gln1299Arg) rs137916023 0.00046
NM_000077.5(CDKN2A):c.273G>A (p.Leu91=) rs4987127 0.00045
NM_000222.3(KIT):c.200C>G (p.Thr67Ser) rs144933028 0.00045
NM_001292063.2(OTOG):c.94+75G>T rs550807341 0.00045
NM_001374385.1(ATP8B1):c.2595C>T (p.Cys865=) rs201885528 0.00045
NM_002691.4(POLD1):c.653G>A (p.Arg218His) rs150010804 0.00045
NM_003126.4(SPTA1):c.3742C>T (p.Arg1248Trp) rs200714808 0.00045
NM_005546.4(ITK):c.1741C>T (p.Arg581Trp) rs34482255 0.00045
NM_014336.5(AIPL1):c.627G>A (p.Arg209=) rs142319505 0.00045
NM_016239.4(MYO15A):c.7665C>T (p.Ser2555=) rs183834387 0.00045
NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser) rs200696965 0.00044
NM_001171.6(ABCC6):c.2359G>A (p.Val787Ile) rs72653792 0.00044
NM_000484.4(APP):c.592T>C (p.Ser198Pro) rs145081708 0.00043
NM_001135146.2(SLC39A8):c.97G>A (p.Val33Met) rs373562040 0.00043
NM_001457.4(FLNB):c.4730C>T (p.Ala1577Val) rs148101195 0.00043
NM_014391.3(ANKRD1):c.417C>A (p.Phe139Leu) rs201398260 0.00043
NM_018993.4(RIN2):c.604G>A (p.Glu202Lys) rs200682836 0.00043
NM_004064.5(CDKN1B):c.518A>G (p.Asn173Ser) rs141509450 0.00042
NM_004187.5(KDM5C):c.2726G>A (p.Arg909Gln) rs148661902 0.00042
NM_000492.4(CFTR):c.3469-17T>C rs199630678 0.00041
NM_001367624.2(ZNF469):c.10762G>A (p.Gly3588Arg) rs750481489 0.00041
NM_003126.4(SPTA1):c.3829C>T (p.Arg1277Cys) rs143642542 0.00041
NM_006231.4(POLE):c.1015G>A (p.Asp339Asn) rs149029910 0.00041
NM_178452.6(DNAAF1):c.1698+1G>A rs139519641 0.00041
NM_053025.4(MYLK):c.3653-10_3653-8del rs576620371 0.00040
NM_194248.3(OTOF):c.4435G>A (p.Gly1479Ser) rs145588516 0.00040
NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys) rs201816080 0.00039
NM_002335.4(LRP5):c.4511C>T (p.Pro1504Leu) rs201475647 0.00039
NM_016169.4(SUFU):c.1084C>T (p.Arg362Cys) rs36049457 0.00039
NM_178554.6(KY):c.988C>T (p.Pro330Ser) rs201201519 0.00039
NM_000077.5(CDKN2A):c.298G>T (p.Ala100Ser) rs200863613 0.00038
NM_001378454.1(ALMS1):c.3307C>G (p.Pro1103Ala) rs200257398 0.00038
NM_002691.4(POLD1):c.13C>T (p.Arg5Trp) rs9282830 0.00038
NM_003235.5(TG):c.8026C>T (p.Arg2676Trp) rs114613744 0.00038
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln) rs139461096 0.00038
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala) rs142303658 0.00038
NM_016239.4(MYO15A):c.1562C>T (p.Pro521Leu) rs867630446 0.00038
NM_033380.3(COL4A5):c.2768-10T>C rs370284884 0.00038
NM_002907.4(RECQL):c.401C>T (p.Thr134Ile) rs150306543 0.00037
NM_018136.5(ASPM):c.7475G>A (p.Arg2492Lys) rs118010078 0.00037
NM_022124.6(CDH23):c.9569C>T (p.Ala3190Val) rs111033536 0.00037
NM_000256.3(MYBPC3):c.906-7G>T rs397516079 0.00036
NM_001142864.4(PIEZO1):c.4252T>C (p.Tyr1418His) rs147153006 0.00036
NM_000088.4(COL1A1):c.334-5C>A rs115997082 0.00035
NM_005422.4(TECTA):c.714C>T (p.Asn238=) rs148478527 0.00035
NM_014915.3(ANKRD26):c.2855A>C (p.Lys952Thr) rs564448342 0.00035
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=) rs377217445 0.00035
NM_022124.6(CDH23):c.6809G>A (p.Arg2270His) rs139409005 0.00035
NM_000260.4(MYO7A):c.5169-5G>A rs727505232 0.00034
NM_001042545.2(LTBP4):c.3338G>A (p.Arg1113His) rs199887429 0.00034
NM_001145809.2(MYH14):c.2233-13C>A rs368249273 0.00034
NM_001256071.3(RNF213):c.10997T>C (p.Met3666Thr) rs375097553 0.00034
NM_001355436.2(SPTB):c.26A>C (p.Asn9Thr) rs138437526 0.00034
NM_006767.4(LZTR1):c.2190C>T (p.Gly730=) rs144092577 0.00034
NM_015046.7(SETX):c.4433C>A (p.Ala1478Glu) rs143661911 0.00034
NM_032119.4(ADGRV1):c.6326T>C (p.Ile2109Thr) rs369891542 0.00034
NM_194248.3(OTOF):c.2507G>A (p.Arg836His) rs200670445 0.00034
NM_001008212.2(OPTN):c.1559G>A (p.Arg520His) rs200088838 0.00033
NM_001288705.3(CSF1R):c.2746G>A (p.Glu916Lys) rs142435467 0.00033
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945 0.00032
NM_000085.5(CLCNKB):c.1669A>C (p.Thr557Pro) rs145798229 0.00032
NM_000091.5(COL4A3):c.3270A>C (p.Pro1090=) rs201989155 0.00032
NM_000283.4(PDE6B):c.1401+5G>A rs201623488 0.00032
NM_001171.6(ABCC6):c.1639G>A (p.Ala547Thr) rs56877937 0.00032
NM_001378454.1(ALMS1):c.10238A>G (p.Glu3413Gly) rs184779459 0.00032
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys) rs104895016 0.00032
NM_005732.4(RAD50):c.2647C>T (p.Arg883Cys) rs138749920 0.00032
NM_001130987.2(DYSF):c.3002A>C (p.Lys1001Thr) rs34061568 0.00031
NM_001844.5(COL2A1):c.508C>T (p.Pro170Ser) rs200882049 0.00031
NM_001851.6(COL9A1):c.460G>C (p.Val154Leu) rs138583508 0.00031
NM_004655.4(AXIN2):c.1685C>T (p.Pro562Leu) rs149764887 0.00031
NM_005006.7(NDUFS1):c.1600G>A (p.Val534Met) rs201806038 0.00031
NM_005422.4(TECTA):c.3406G>C (p.Asp1136His) rs147890616 0.00031
NM_005502.4(ABCA1):c.2660G>T (p.Cys887Phe) rs187652566 0.00031
NM_005886.3(KATNB1):c.1568C>T (p.Thr523Met) rs142649985 0.00031
NM_017654.4(SAMD9):c.2374G>A (p.Val792Ile) rs147587391 0.00031
NM_078470.6(COX15):c.929C>G (p.Pro310Arg) rs138293000 0.00031
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val) rs121913016 0.00030
NM_001853.4(COL9A3):c.1135G>A (p.Gly379Ser) rs201250184 0.00030
NM_004826.4(ECEL1):c.1499G>A (p.Arg500Gln) rs151119841 0.00030
NM_207581.4(DUOXA2):c.463C>G (p.Leu155Val) rs201808443 0.00030
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg) rs199473183 0.00029
NM_001142864.4(PIEZO1):c.5647C>T (p.Arg1883Trp) rs200031013 0.00029
NM_002528.7(NTHL1):c.74G>A (p.Arg25Lys) rs2302172 0.00029
NM_005157.6(ABL1):c.589G>A (p.Glu197Lys) rs150134901 0.00029
NM_005502.4(ABCA1):c.1486C>T (p.Arg496Trp) rs147675550 0.00029
NM_130837.3(OPA1):c.222A>T (p.Lys74Asn) rs114157340 0.00029
NM_174936.4(PCSK9):c.399+4A>G rs376653409 0.00029
NM_201384.3(PLEC):c.4524G>A (p.Gln1508=) rs370168097 0.00029
NM_207581.4(DUOXA2):c.205+2T>C rs201506037 0.00029
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598 0.00028
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg) rs202039659 0.00028
NM_001128228.3(TPRN):c.1094A>G (p.Gln365Arg) rs780953179 0.00028
NM_003560.4(PLA2G6):c.325C>G (p.His109Asp) rs142530390 0.00028
NM_006005.3(WFS1):c.1760G>A (p.Arg587Gln) rs71539657 0.00028
NM_006947.4(SRP72):c.406G>A (p.Val136Ile) rs145817936 0.00028
NM_016239.4(MYO15A):c.2225G>T (p.Arg742Leu) rs772776336 0.00028
NM_018943.3(TUBA8):c.902A>G (p.Gln301Arg) rs2234333 0.00028
NM_020207.7(ERCC6L2):c.379C>G (p.Gln127Glu) rs146075543 0.00027
NM_183357.3(ADCY5):c.208G>C (p.Ala70Pro) rs559947047 0.00027
NM_000059.4(BRCA2):c.4813G>A (p.Val1605Ile) rs786201175 0.00026
NM_000077.5(CDKN2A):c.318G>A (p.Val106=) rs199888003 0.00026
NM_000478.6(ALPL):c.1002C>T (p.Gly334=) rs370122334 0.00026
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 0.00026
NM_004999.4(MYO6):c.475G>A (p.Glu159Lys) rs201507590 0.00026
NM_005228.5(EGFR):c.2543C>T (p.Pro848Leu) rs148934350 0.00026
NM_005422.4(TECTA):c.1651G>A (p.Val551Met) rs200857366 0.00026
NM_144670.6(A2ML1):c.814C>T (p.Arg272Trp) rs201215628 0.00026
NM_001394062.1(MACF1):c.15226C>G (p.Leu5076Val) rs144367111 0.00025
NM_001845.6(COL4A1):c.2126C>T (p.Pro709Leu) rs150129180 0.00025
NM_005618.4(DLL1):c.303C>A (p.Asp101Glu) rs201394102 0.00025
NM_024740.2(ALG9):c.1750C>T (p.Arg584Trp) rs199995104 0.00025
NM_032229.3(SLITRK6):c.1318T>G (p.Leu440Val) rs200767869 0.00025
NM_177438.3(DICER1):c.1124C>G (p.Pro375Arg) rs148758903 0.00025
NM_000260.4(MYO7A):c.2527G>A (p.Val843Met) rs140559111 0.00024
NM_000359.3(TGM1):c.167C>T (p.Ala56Val) rs147479810 0.00024
NM_000384.3(APOB):c.8550T>G (p.Ile2850Met) rs148498577 0.00024
NM_000399.5(EGR2):c.192G>C (p.Met64Ile) rs146631014 0.00024
NM_000719.7(CACNA1C):c.1485C>A (p.His495Gln) rs373335068 0.00024
NM_001059.3(TACR3):c.1321C>T (p.Arg441Cys) rs146482011 0.00024
NM_001114753.3(ENG):c.7C>T (p.Arg3Cys) rs139334561 0.00024
NM_001142864.4(PIEZO1):c.752C>T (p.Ala251Val) rs539005229 0.00024
NM_001378609.3(OTOGL):c.2345C>T (p.Pro782Leu) rs200797401 0.00024
NM_001453.3(FOXC1):c.962C>A (p.Pro321Gln) rs754743917 0.00024
NM_003321.5(TUFM):c.427G>A (p.Gly143Ser) rs34283928 0.00024
NM_006796.3(AFG3L2):c.2195A>G (p.Glu732Gly) rs562544252 0.00024
NM_016204.4(GDF2):c.221G>A (p.Gly74Glu) rs151296940 0.00024
NM_173689.7(CRB2):c.1429C>T (p.Arg477Cys) rs146271715 0.00024
NM_000238.4(KCNH2):c.2729C>T (p.Pro910Leu) rs199473436 0.00023
NM_006231.4(POLE):c.761C>T (p.Pro254Leu) rs200211438 0.00023
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185 0.00023
NM_000059.4(BRCA2):c.9502-12T>G rs81002803 0.00022
NM_000143.4(FH):c.1237-7C>T rs376260223 0.00022
NM_001286577.2(C2CD3):c.4097C>T (p.Ser1366Leu) rs144630140 0.00022
NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro) rs201517720 0.00022
NM_002230.4(JUP):c.2207C>T (p.Pro736Leu) rs151178348 0.00022
NM_032119.4(ADGRV1):c.6443C>T (p.Ala2148Val) rs375921325 0.00022
NM_206965.2(FTCD):c.623G>A (p.Arg208His) rs199508525 0.00022
NM_000069.3(CACNA1S):c.743C>T (p.Thr248Met) rs200665694 0.00021
NM_000260.4(MYO7A):c.5005G>A (p.Val1669Ile) rs374655803 0.00021
NM_001142864.4(PIEZO1):c.1001C>T (p.Ala334Val) rs574402639 0.00021
NM_001161352.2(KCNMA1):c.2398G>T (p.Asp800Tyr) rs142210216 0.00021
NM_001184.4(ATR):c.483A>G (p.Arg161=) rs182268224 0.00021
NM_001927.4(DES):c.736-8C>A rs140375681 0.00021
NM_004667.6(HERC2):c.10474T>C (p.Ser3492Pro) rs185865505 0.00021
NM_014363.6(SACS):c.973G>A (p.Gly325Arg) rs144303334 0.00021
NM_032119.4(ADGRV1):c.9054T>G (p.Phe3018Leu) rs186975400 0.00021
NM_001009944.3(PKD1):c.6395T>G (p.Phe2132Cys) rs150154235 0.00020
NM_001101362.3(KBTBD13):c.769G>C (p.Asp257His) rs568675071 0.00020
NM_001330311.2(DVL1):c.473G>A (p.Arg158Gln) rs150617550 0.00020
NM_005618.4(DLL1):c.1981C>T (p.Arg661Cys) rs61757616 0.00020
NM_015102.5(NPHP4):c.1196A>G (p.Glu399Gly) rs117898549 0.00020
NM_194248.3(OTOF):c.4552G>A (p.Ala1518Thr) rs145556189 0.00020
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700 0.00019
NM_000092.5(COL4A4):c.431C>T (p.Ser144Leu) rs368884003 0.00019
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855 0.00019
NM_000207.3(INS):c.-153C>G rs915076855 0.00019
NM_000465.4(BARD1):c.308G>A (p.Ser103Asn) rs145629242 0.00019
NM_001330311.2(DVL1):c.1592C>T (p.Pro531Leu) rs199505104 0.00019
NM_001458.5(FLNC):c.3790+5G>A rs199917473 0.00019
NM_001854.4(COL11A1):c.4594C>G (p.Pro1532Ala) rs140954784 0.00019
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg) rs80357436 0.00019
NM_016343.4(CENPF):c.3352C>G (p.Gln1118Glu) rs200341117 0.00019
NM_018100.4(EFHC1):c.661C>T (p.Arg221Cys) rs139197513 0.00019
NM_080680.3(COL11A2):c.4854C>G (p.Asp1618Glu) rs151319255 0.00019
NM_194248.3(OTOF):c.5029G>A (p.Ala1677Thr) rs372908847 0.00019
NM_000069.3(CACNA1S):c.1745G>C (p.Gly582Ala) rs377459546 0.00018
NM_000334.4(SCN4A):c.211C>T (p.Pro71Ser) rs187055074 0.00018
NM_000546.6(TP53):c.935C>G (p.Thr312Ser) rs145151284 0.00018
NM_001288705.3(CSF1R):c.110C>T (p.Thr37Met) rs139635308 0.00018
NM_003126.4(SPTA1):c.5081G>A (p.Arg1694His) rs201822255 0.00018
NM_004793.4(LONP1):c.2203G>A (p.Val735Met) rs200317240 0.00018
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys) rs138398778 0.00017
NM_000090.4(COL3A1):c.560C>T (p.Thr187Ile) rs371583734 0.00017
NM_000249.4(MLH1):c.1040C>A (p.Thr347Asn) rs201541505 0.00017
NM_005502.4(ABCA1):c.4250G>A (p.Arg1417His) rs116034780 0.00017
NM_024876.4(COQ8B):c.706G>A (p.Val236Met) rs146225943 0.00017
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile) rs147204964 0.00017
NM_000069.3(CACNA1S):c.1143C>T (p.Phe381=) rs144883479 0.00016
NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met) rs147112322 0.00016
NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu) rs140330831 0.00016
NM_000218.3(KCNQ1):c.1354C>T (p.Arg452Trp) rs140452381 0.00016
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr) rs201343342 0.00016
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673 0.00016
NM_000918.4(P4HB):c.709G>A (p.Val237Ile) rs145040305 0.00016
NM_001009944.3(PKD1):c.9009G>A (p.Ala3003=) rs374619113 0.00016
NM_001142864.4(PIEZO1):c.2744A>G (p.Asn915Ser) rs543115615 0.00016
NM_001457.4(FLNB):c.1868A>T (p.Asp623Val) rs145314043 0.00016
NM_025114.4(CEP290):c.4555A>T (p.Ile1519Leu) rs200817579 0.00016
NM_052867.4(NALCN):c.2307T>G (p.His769Gln) rs147070169 0.00016
NM_130837.3(OPA1):c.530G>T (p.Ser177Ile) rs150279202 0.00016
NM_000260.4(MYO7A):c.3404C>A (p.Ser1135Tyr) rs376688581 0.00015
NM_000291.4(PGK1):c.241G>T (p.Val81Phe) rs202138276 0.00015
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile) rs199473660 0.00015
NM_000891.3(KCNJ2):c.1045G>A (p.Glu349Lys) rs375330016 0.00015
NM_001145809.2(MYH14):c.560A>G (p.Gln187Arg) rs199583971 0.00015
NM_001457.4(FLNB):c.5506G>A (p.Ala1836Thr) rs199964133 0.00015
NM_004646.4(NPHS1):c.1183G>A (p.Gly395Ser) rs372069596 0.00015
NM_006361.6(HOXB13):c.6G>A (p.Glu2=) rs371544984 0.00015
NM_015046.7(SETX):c.1869A>C (p.Glu623Asp) rs139200312 0.00015
NM_016239.4(MYO15A):c.484C>T (p.Arg162Cys) rs546203218 0.00015
NM_016938.5(EFEMP2):c.422A>T (p.His141Leu) rs148315164 0.00015
NM_033380.3(COL4A5):c.880C>T (p.Pro294Ser) rs374201703 0.00015
NM_000092.5(COL4A4):c.2840G>A (p.Arg947Gln) rs373540400 0.00014
NM_000719.7(CACNA1C):c.202G>A (p.Ala68Thr) rs752000790 0.00014
NM_001035.3(RYR2):c.10523T>C (p.Ile3508Thr) rs115622575 0.00014
NM_001042545.2(LTBP4):c.4411G>A (p.Gly1471Arg) rs375100061 0.00014
NM_001142864.4(PIEZO1):c.3340C>G (p.Gln1114Glu) rs373706590 0.00014
NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg) rs367826445 0.00014
NM_001378452.1(ITPR1):c.1034G>A (p.Arg345Gln) rs201804963 0.00014
NM_001457.4(FLNB):c.1290C>G (p.Ile430Met) rs147854989 0.00014
NM_001854.4(COL11A1):c.1522A>G (p.Thr508Ala) rs55851925 0.00014
NM_002473.6(MYH9):c.5378A>G (p.Lys1793Arg) rs141440715 0.00014
NM_014363.6(SACS):c.2329T>C (p.Ser777Pro) rs147837803 0.00014
NM_014639.4(SKIC3):c.829G>A (p.Gly277Ser) rs200385766 0.00014
NM_020247.5(COQ8A):c.1258G>A (p.Asp420Asn) rs147097934 0.00014
NM_020937.4(FANCM):c.30G>A (p.Gln10=) rs145745979 0.00014
NM_173076.3(ABCA12):c.627A>C (p.Lys209Asn) rs149882663 0.00014
NM_000020.3(ACVRL1):c.917C>T (p.Ala306Val) rs150038846 0.00013
NM_000069.3(CACNA1S):c.1465C>T (p.Arg489Cys) rs138364213 0.00013
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His) rs144751329 0.00013
NM_000540.3(RYR1):c.9152G>A (p.Arg3051His) rs147303895 0.00013
NM_000891.3(KCNJ2):c.1244C>T (p.Pro415Leu) rs373799322 0.00013
NM_001039958.2(MESP2):c.306C>A (p.His102Gln) rs77473319 0.00013
NM_001042545.2(LTBP4):c.3050G>A (p.Arg1017Gln) rs376010452 0.00013
NM_001104631.2(PDE4D):c.125C>A (p.Pro42Gln) rs372946517 0.00013
NM_001148.6(ANK2):c.11119G>A (p.Asp3707Asn) rs199549660 0.00013
NM_001846.4(COL4A2):c.4096G>A (p.Asp1366Asn) rs558814304 0.00013
NM_001854.4(COL11A1):c.3542A>C (p.Gln1181Pro) rs370534700 0.00013
NM_002473.6(MYH9):c.5185G>T (p.Ala1729Ser) rs140662138 0.00013
NM_002691.4(POLD1):c.371T>C (p.Val124Ala) rs199993010 0.00013
NM_003924.4(PHOX2B):c.773C>A (p.Ala258Glu) rs747626591 0.00013
NM_014967.5(FAN1):c.1090A>C (p.Asn364His) rs187082481 0.00013
NM_015046.7(SETX):c.7490G>A (p.Ser2497Asn) rs61735488 0.00013
NM_015506.3(MMACHC):c.799C>T (p.Arg267Trp) rs34258482 0.00013
NM_018100.4(EFHC1):c.1057C>T (p.Arg353Trp) rs527295360 0.00013
NM_024334.3(TMEM43):c.718C>T (p.Arg240Cys) rs367910936 0.00013
NM_024422.6(DSC2):c.734A>C (p.Glu245Ala) rs373201722 0.00013
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln) rs146377793 0.00013
NM_033056.4(PCDH15):c.5435C>T (p.Pro1812Leu) rs139668636 0.00013
NM_080680.3(COL11A2):c.3932A>G (p.Asn1311Ser) rs727504460 0.00013
NM_080680.3(COL11A2):c.4538G>A (p.Arg1513Gln) rs371674362 0.00013
NM_130837.3(OPA1):c.344C>T (p.Ala115Val) rs200983556 0.00013
NM_000784.4(CYP27A1):c.578G>A (p.Arg193Gln) rs181649030 0.00012
NM_001243133.2(NLRP3):c.1079T>A (p.Leu360Gln) rs201593863 0.00012
NM_001349338.3(FOXP1):c.13T>C (p.Ser5Pro) rs762898505 0.00012
NM_001844.5(COL2A1):c.4275C>T (p.Gly1425=) rs41272767 0.00012
NM_001854.4(COL11A1):c.1504G>T (p.Asp502Tyr) rs1212773301 0.00012
NM_001854.4(COL11A1):c.907G>A (p.Val303Ile) rs369925361 0.00012
NM_033380.3(COL4A5):c.319C>T (p.Pro107Ser) rs182634806 0.00012
NM_080680.3(COL11A2):c.3328C>T (p.Pro1110Ser) rs141164483 0.00012
NM_080680.3(COL11A2):c.4126C>G (p.Gln1376Glu) rs150784358 0.00012
NM_000062.3(SERPING1):c.798G>A (p.Val266=) rs375950989 0.00011
NM_000069.3(CACNA1S):c.1166A>T (p.Asp389Val) rs148770452 0.00011
NM_000069.3(CACNA1S):c.2582G>C (p.Gly861Ala) rs369192794 0.00011
NM_000093.5(COL5A1):c.3594C>T (p.Gly1198=) rs146176718 0.00011
NM_000095.3(COMP):c.412C>G (p.Pro138Ala) rs763966726 0.00011
NM_000214.3(JAG1):c.3329A>C (p.Asn1110Thr) rs150811951 0.00011
NM_001005361.3(DNM2):c.1384A>G (p.Thr462Ala) rs201575500 0.00011
NM_001035.3(RYR2):c.6793-3C>T rs372314209 0.00011
NM_001375524.1(TRRAP):c.11191G>A (p.Ala3731Thr) rs199541716 0.00011
NM_001378454.1(ALMS1):c.109G>C (p.Val37Leu) rs774784126 0.00011
NM_001457.4(FLNB):c.3476C>T (p.Ser1159Leu) rs201254275 0.00011
NM_001844.5(COL2A1):c.3683C>T (p.Pro1228Leu) rs371974287 0.00011
NM_001852.4(COL9A2):c.2036G>A (p.Arg679His) rs199897562 0.00011
NM_001853.4(COL9A3):c.245C>T (p.Pro82Leu) rs199653123 0.00011
NM_001854.4(COL11A1):c.2453G>A (p.Arg818Gln) rs142523692 0.00011
NM_001927.4(DES):c.665G>A (p.Arg222His) rs367961979 0.00011
NM_002230.4(JUP):c.352G>A (p.Glu118Lys) rs149004293 0.00011
NM_003036.4(SKI):c.1329C>T (p.Pro443=) rs150033567 0.00011
NM_003722.5(TP63):c.1814G>A (p.Arg605Gln) rs142981128 0.00011
NM_004667.6(HERC2):c.815C>T (p.Thr272Met) rs201979656 0.00011
NM_007294.4(BRCA1):c.694G>A (p.Asp232Asn) rs55975699 0.00011
NM_014363.6(SACS):c.1033C>T (p.Arg345Trp) rs776156836 0.00011
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr) rs45510998 0.00011
NM_032119.4(ADGRV1):c.3269T>C (p.Ile1090Thr) rs771410054 0.00011
NM_080680.3(COL11A2):c.1208C>T (p.Pro403Leu) rs201179101 0.00011
NM_000093.5(COL5A1):c.1889G>A (p.Arg630Gln) rs781667754 0.00010
NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys) rs369717556 0.00010
NM_001148.6(ANK2):c.11230A>C (p.Thr3744Pro) rs372212045 0.00010
NM_004984.4(KIF5A):c.152G>A (p.Arg51His) rs773336059 0.00010
NM_005359.6(SMAD4):c.424+5G>A rs200772603 0.00010
NM_024422.6(DSC2):c.2314G>A (p.Val772Met) rs146029947 0.00010
NM_025074.7(FRAS1):c.4181G>C (p.Gly1394Ala) rs376487875 0.00010
NM_182961.4(SYNE1):c.19534G>T (p.Ala6512Ser) rs149272010 0.00010
NM_194248.3(OTOF):c.5128A>C (p.Met1710Leu) rs368639052 0.00010
NM_000069.3(CACNA1S):c.3067G>A (p.Ala1023Thr) rs551510986 0.00009
NM_000092.5(COL4A4):c.3995C>T (p.Pro1332Leu) rs200860702 0.00009
NM_000334.4(SCN4A):c.1120G>A (p.Glu374Lys) rs766463226 0.00009
NM_000719.7(CACNA1C):c.3969C>T (p.Ile1323=) rs201345843 0.00009
NM_001103.4(ACTN2):c.1292C>T (p.Ser431Leu) rs149846886 0.00009
NM_001142864.4(PIEZO1):c.7195G>A (p.Gly2399Ser) rs545171267 0.00009
NM_001148.6(ANK2):c.2060A>G (p.Asn687Ser) rs29372 0.00009
NM_001291303.3(FAT4):c.6985C>T (p.Arg2329Cys) rs148293496 0.00009
NM_001844.5(COL2A1):c.3047G>A (p.Arg1016Lys) rs146046296 0.00009
NM_001854.4(COL11A1):c.4661C>T (p.Thr1554Met) rs759287748 0.00009
NM_002230.4(JUP):c.1862T>C (p.Ile621Thr) rs752594411 0.00009
NM_002473.6(MYH9):c.4817C>T (p.Ser1606Leu) rs145319741 0.00009
NM_002691.4(POLD1):c.2388+5G>A rs750085275 0.00009
NM_003722.5(TP63):c.1367C>T (p.Pro456Leu) rs201479097 0.00009
NM_005422.4(TECTA):c.3728G>A (p.Arg1243His) rs376745254 0.00009
NM_005876.5(SPEG):c.8860G>A (p.Gly2954Ser) rs377476081 0.00009
NM_006941.4(SOX10):c.574G>A (p.Gly192Ser) rs200475773 0.00009
NM_006996.3(SLC19A2):c.1486A>G (p.Thr496Ala) rs769397647 0.00009
NM_016239.4(MYO15A):c.7547C>T (p.Ala2516Val) rs201073816 0.00009
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478 0.00008
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00008
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser) rs121434406 0.00008
NM_001844.5(COL2A1):c.2902G>A (p.Glu968Lys) rs144572461 0.00008
NM_001854.4(COL11A1):c.4709T>C (p.Leu1570Pro) rs558265763 0.00008
NM_002230.4(JUP):c.1982G>A (p.Arg661Gln) rs555499592 0.00008
NM_002335.4(LRP5):c.3901G>A (p.Ala1301Thr) rs149166384 0.00008
NM_006361.6(HOXB13):c.832G>T (p.Val278Leu) rs200997384 0.00008
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) rs531398630 0.00008
NM_014363.6(SACS):c.13027G>A (p.Glu4343Lys) rs749383532 0.00008
NM_014363.6(SACS):c.7394C>T (p.Ser2465Leu) rs747676277 0.00008
NM_033380.3(COL4A5):c.2286A>G (p.Pro762=) rs369726425 0.00008
NM_199334.5(THRA):c.54-1G>A rs199530759 0.00008
NM_000142.5(FGFR3):c.639G>A (p.Leu213=) rs138707520 0.00007
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile) rs147750704 0.00007
NM_000891.3(KCNJ2):c.973C>T (p.Arg325Cys) rs202067116 0.00007
NM_001114753.3(ENG):c.1762G>A (p.Val588Ile) rs201768056 0.00007
NM_001134363.3(RBM20):c.1024C>A (p.Pro342Thr) rs876657971 0.00007
NM_001184.4(ATR):c.7667C>G (p.Thr2556Ser) rs200490116 0.00007
NM_001303.4(COX10):c.1193G>A (p.Arg398His) rs200942884 0.00007
NM_001844.5(COL2A1):c.4255G>A (p.Val1419Met) rs371226850 0.00007
NM_001845.6(COL4A1):c.1545A>T (p.Gln515His) rs144950610 0.00007
NM_001854.4(COL11A1):c.1853G>A (p.Arg618Gln) rs192313594 0.00007
NM_001854.4(COL11A1):c.2150A>G (p.Gln717Arg) rs142524348 0.00007
NM_001854.4(COL11A1):c.4495C>T (p.Pro1499Ser) rs199952288 0.00007
NM_002230.4(JUP):c.56C>T (p.Thr19Ile) rs570878629 0.00007
NM_002739.5(PRKCG):c.2075T>G (p.Val692Gly) rs78437096 0.00007
NM_014363.6(SACS):c.175T>A (p.Ser59Thr) rs539836931 0.00007
NM_014363.6(SACS):c.9791C>G (p.Thr3264Arg) rs758563983 0.00007
NM_033380.3(COL4A5):c.1813C>A (p.Pro605Thr) rs781016371 0.00007
NM_000249.4(MLH1):c.2174G>A (p.Arg725His) rs566928243 0.00006
NM_000264.5(PTCH1):c.1808G>A (p.Arg603His) rs199523893 0.00006
NM_000335.5(SCN5A):c.393-5C>A rs368678204 0.00006
NM_000352.6(ABCC8):c.1958G>A (p.Arg653Gln) rs146378237 0.00006
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp) rs150201462 0.00006
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634 0.00006
NM_000719.7(CACNA1C):c.959C>T (p.Thr320Met) rs377737331 0.00006
NM_001165963.4(SCN1A):c.3481G>A (p.Ala1161Thr) rs201079458 0.00006
NM_001355436.2(SPTB):c.5422G>A (p.Glu1808Lys) rs143950158 0.00006
NM_001367624.2(ZNF469):c.1663G>A (p.Asp555Asn) rs749179728 0.00006
NM_001367624.2(ZNF469):c.4910G>A (p.Arg1637Gln) rs273585621 0.00006
NM_001367624.2(ZNF469):c.6236C>T (p.Ser2079Phe) rs765190704 0.00006
NM_001852.4(COL9A2):c.1123C>G (p.Arg375Gly) rs375476174 0.00006
NM_001854.4(COL11A1):c.1059A>T (p.Lys353Asn) rs572826781 0.00006
NM_001854.4(COL11A1):c.2246C>T (p.Pro749Leu) rs776773238 0.00006
NM_001854.4(COL11A1):c.3136G>A (p.Gly1046Arg) rs760387652 0.00006
NM_001854.4(COL11A1):c.4328A>C (p.Lys1443Thr) rs769350133 0.00006
NM_001854.4(COL11A1):c.4586T>C (p.Leu1529Pro) rs578137786 0.00006
NM_002230.4(JUP):c.568G>A (p.Val190Met) rs370143312 0.00006
NM_002471.4(MYH6):c.2685G>A (p.Ala895=) rs752345245 0.00006
NM_002473.6(MYH9):c.5456T>G (p.Leu1819Arg) rs368440234 0.00006
NM_002691.4(POLD1):c.3218+5G>A rs569395274 0.00006
NM_005502.4(ABCA1):c.5492C>T (p.Ala1831Val) rs753324965 0.00006
NM_006180.6(NTRK2):c.746C>A (p.Ser249Tyr) rs772111782 0.00006
NM_006767.4(LZTR1):c.2232G>A (p.Ala744=) rs139261473 0.00006
NM_014363.6(SACS):c.13106A>G (p.Asp4369Gly) rs770895110 0.00006
NM_016239.4(MYO15A):c.2174C>G (p.Pro725Arg) rs781006180 0.00006
NM_018896.5(CACNA1G):c.3553C>T (p.Arg1185Cys) rs573971701 0.00006
NM_020297.4(ABCC9):c.1988G>A (p.Arg663His) rs141999048 0.00006
NM_020297.4(ABCC9):c.3070A>G (p.Ile1024Val) rs376701259 0.00006
NM_022114.4(PRDM16):c.2747C>T (p.Ala916Val) rs756209340 0.00006
NM_024334.3(TMEM43):c.802C>T (p.Arg268Trp) rs201138253 0.00006
NM_024747.6(HPS6):c.2029G>A (p.Glu677Lys) rs373272114 0.00006
NM_080680.3(COL11A2):c.3101G>A (p.Arg1034His) rs957902805 0.00006
NM_080680.3(COL11A2):c.4057G>A (p.Val1353Met) rs752706766 0.00006
NM_080680.3(COL11A2):c.4541G>A (p.Arg1514His) rs756194499 0.00006
NM_080680.3(COL11A2):c.4705C>T (p.Arg1569Cys) rs727504458 0.00006
NM_133379.5(TTN):c.12226G>A (p.Glu4076Lys) rs144690298 0.00006
NM_170707.4(LMNA):c.937-7C>G rs267607681 0.00006
NM_000089.4(COL1A2):c.526T>C (p.Phe176Leu) rs370234887 0.00005
NM_000092.5(COL4A4):c.4421C>T (p.Thr1474Met) rs201615111 0.00005
NM_000214.3(JAG1):c.3521C>T (p.Pro1174Leu) rs775363555 0.00005
NM_000458.4(HNF1B):c.1239C>T (p.Val413=) rs201113814 0.00005
NM_000719.7(CACNA1C):c.101C>T (p.Ala34Val) rs551396698 0.00005
NM_001110792.2(MECP2):c.1469G>A (p.Arg490Gln) rs145790362 0.00005
NM_001148.6(ANK2):c.9172C>T (p.Arg3058Cys) rs188282049 0.00005
NM_001844.5(COL2A1):c.175A>G (p.Thr59Ala) rs376641474 0.00005
NM_001844.5(COL2A1):c.4375C>T (p.Arg1459Cys) rs148838496 0.00005
NM_001844.5(COL2A1):c.4448C>T (p.Pro1483Leu) rs376442872 0.00005
NM_004415.4(DSP):c.727-10T>G rs375327581 0.00005
NM_004700.4(KCNQ4):c.648C>T (p.Arg216=) rs80358269 0.00005
NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln) rs139669564 0.00005
NM_000032.5(ALAS2):c.713A>T (p.Glu238Val) rs137978657 0.00004
NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His) rs141031133 0.00004
NM_000251.3(MSH2):c.1121A>G (p.Gln374Arg) rs749660228 0.00004
NM_000399.5(EGR2):c.665T>C (p.Met222Thr) rs530614586 0.00004
NM_000455.5(STK11):c.612C>T (p.Phe204=) rs774100153 0.00004
NM_000523.4(HOXD13):c.500A>G (p.Tyr167Cys) rs200067774 0.00004
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272 0.00004
NM_001184880.2(PCDH19):c.224A>G (p.Asn75Ser) rs796052790 0.00004
NM_001378452.1(ITPR1):c.5386G>A (p.Gly1796Ser) rs760608076 0.00004
NM_001830.4(CLCN4):c.822C>T (p.Gly274=) rs748967139 0.00004
NM_001844.5(COL2A1):c.2368C>T (p.Pro790Ser) rs1306517572 0.00004
NM_001844.5(COL2A1):c.4061A>G (p.Asn1354Ser) rs200621622 0.00004
NM_001854.4(COL11A1):c.1444G>A (p.Ala482Thr) rs150428394 0.00004
NM_001854.4(COL11A1):c.173C>T (p.Thr58Met) rs770162224 0.00004
NM_001854.4(COL11A1):c.3227G>A (p.Arg1076His) rs148464130 0.00004
NM_002382.5(MAX):c.56A>T (p.Gln19Leu) rs200547781 0.00004
NM_002473.6(MYH9):c.3320G>A (p.Arg1107Gln) rs137924205 0.00004
NM_003098.3(SNTA1):c.1033G>A (p.Ala345Thr) rs150474420 0.00004
NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe) rs184474885 0.00004
NM_004329.3(BMPR1A):c.760C>T (p.Arg254Cys) rs587782578 0.00004
NM_005559.4(LAMA1):c.4618G>A (p.Asp1540Asn) rs373453681 0.00004
NM_006231.4(POLE):c.155G>A (p.Arg52Gln) rs372459649 0.00004
NM_006231.4(POLE):c.6539C>T (p.Ala2180Val) rs552452448 0.00004
NM_006514.4(SCN10A):c.1110G>T (p.Gly370=) rs267599808 0.00004
NM_006941.4(SOX10):c.826G>A (p.Val276Met) rs766175657 0.00004
NM_018972.4(GDAP1):c.248G>C (p.Gly83Ala) rs371138642 0.00004
NM_020778.5(ALPK3):c.245C>T (p.Thr82Met) rs369383271 0.00004
NM_024334.3(TMEM43):c.206C>T (p.Ser69Leu) rs369779779 0.00004
NM_024334.3(TMEM43):c.947G>C (p.Trp316Ser) rs199526104 0.00004
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr) rs370422990 0.00004
NM_030665.4(RAI1):c.2965A>G (p.Lys989Glu) rs993240093 0.00004
NM_031407.7(HUWE1):c.2570C>T (p.Pro857Leu) rs782526786 0.00004
NM_080680.3(COL11A2):c.1451C>T (p.Ala484Val) rs143965711 0.00004
NM_080680.3(COL11A2):c.4027G>A (p.Ala1343Thr) rs759017753 0.00004
NM_080680.3(COL11A2):c.4399G>T (p.Ala1467Ser) rs779385536 0.00004
NM_130837.3(OPA1):c.1094A>G (p.Gln365Arg) rs770966290 0.00004
NM_130837.3(OPA1):c.619G>A (p.Glu207Lys) rs569675223 0.00004
NM_206933.4(USH2A):c.9611A>G (p.His3204Arg) rs745539518 0.00004
NM_000038.6(APC):c.5506G>A (p.Gly1836Arg) rs766739164 0.00003
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys) rs754691867 0.00003
NM_000069.3(CACNA1S):c.2055G>C (p.Lys685Asn) rs200844059 0.00003
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val) rs200909606 0.00003
NM_000207.3(INS):c.130G>A (p.Gly44Arg) rs765512575 0.00003
NM_000251.3(MSH2):c.2120G>A (p.Cys707Tyr) rs373226409 0.00003
NM_000518.5(HBB):c.50G>A (p.Gly17Asp) rs33962676 0.00003
NM_000719.7(CACNA1C):c.2813T>C (p.Ile938Thr) rs377165829 0.00003
NM_000891.3(KCNJ2):c.359A>C (p.Lys120Thr) rs375646186 0.00003
NM_001008537.3(NEXMIF):c.1119G>C (p.Trp373Cys) rs780581302 0.00003
NM_001127644.2(GABRA1):c.86C>T (p.Pro29Leu) rs200218956 0.00003
NM_001144967.3(NEDD4L):c.2093A>G (p.Asn698Ser) rs377143286 0.00003
NM_001171.6(ABCC6):c.179G>A (p.Arg60Gln) rs183648123 0.00003
NM_001457.4(FLNB):c.3265G>A (p.Asp1089Asn) rs369045614 0.00003
NM_001844.5(COL2A1):c.2143C>T (p.Leu715Phe) rs1482498887 0.00003
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu) rs200786329 0.00003
NM_001854.4(COL11A1):c.1147T>A (p.Phe383Ile) rs368746938 0.00003
NM_001854.4(COL11A1):c.1426C>T (p.Arg476Cys) rs756352775 0.00003
NM_001854.4(COL11A1):c.3868G>T (p.Ala1290Ser) rs370988085 0.00003
NM_001854.4(COL11A1):c.4561G>A (p.Ala1521Thr) rs769920499 0.00003
NM_001854.4(COL11A1):c.5119C>T (p.Arg1707Trp) rs757608461 0.00003
NM_002473.6(MYH9):c.5806C>T (p.Arg1936Trp) rs727503281 0.00003
NM_004958.4(MTOR):c.3481C>G (p.Arg1161Gly) rs202197441 0.00003
NM_005529.7(HSPG2):c.2520C>T (p.Asp840=) rs544565016 0.00003
NM_006015.6(ARID1A):c.5753G>A (p.Arg1918Gln) rs369532498 0.00003
NM_006361.6(HOXB13):c.122C>T (p.Thr41Met) rs199799743 0.00003
NM_007194.4(CHEK2):c.1130A>G (p.Glu377Gly) rs560973106 0.00003
NM_007294.4(BRCA1):c.5189A>G (p.Asn1730Ser) rs80357171 0.00003
NM_032043.3(BRIP1):c.2324A>G (p.Asn775Ser) rs571108955 0.00003
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu) rs140233356 0.00003
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val) rs200239986 0.00003
NM_032119.4(ADGRV1):c.2848G>C (p.Gly950Arg) rs569112173 0.00003
NM_080680.3(COL11A2):c.1381G>T (p.Gly461Cys) rs764998691 0.00003
NM_080680.3(COL11A2):c.1427C>A (p.Ala476Glu) rs373983482 0.00003
NM_080680.3(COL11A2):c.2669C>T (p.Pro890Leu) rs764307090 0.00003
NM_080680.3(COL11A2):c.3173C>T (p.Pro1058Leu) rs562253142 0.00003
NM_080680.3(COL11A2):c.3352C>A (p.Gln1118Lys) rs369849667 0.00003
NM_201596.3(CACNB2):c.1522G>A (p.Ala508Thr) rs759958799 0.00003
NM_000038.6(APC):c.4310A>G (p.Lys1437Arg) rs745825088 0.00002
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val) rs375131360 0.00002
NM_000059.4(BRCA2):c.6017G>C (p.Ser2006Thr) rs144784912 0.00002
NM_000069.3(CACNA1S):c.1204G>T (p.Ala402Ser) rs756022224 0.00002
NM_000256.3(MYBPC3):c.502G>A (p.Val168Met) rs569740494 0.00002
NM_000441.2(SLC26A4):c.1983C>A (p.Asp661Glu) rs199588131 0.00002
NM_000458.4(HNF1B):c.1373T>G (p.Val458Gly) rs375644184 0.00002
NM_000532.5(PCCB):c.595C>T (p.Pro199Ser) rs371155999 0.00002
NM_000890.5(KCNJ5):c.10G>A (p.Asp4Asn) rs529755922 0.00002
NM_001110556.2(FLNA):c.4420G>A (p.Asp1474Asn) rs782129236 0.00002
NM_001110556.2(FLNA):c.4503C>T (p.Asp1501=) rs1324926264 0.00002
NM_001142864.4(PIEZO1):c.6692C>T (p.Ser2231Phe) rs575482829 0.00002
NM_001243133.2(NLRP3):c.2419G>A (p.Ala807Thr) rs201096167 0.00002
NM_001278116.2(L1CAM):c.202C>T (p.Arg68Cys) rs1172761444 0.00002
NM_001375524.1(TRRAP):c.4405-5A>G rs782409632 0.00002
NM_001844.5(COL2A1):c.1975C>T (p.Pro659Ser) rs747852608 0.00002
NM_001844.5(COL2A1):c.3898A>G (p.Ile1300Val) rs556788032 0.00002
NM_001844.5(COL2A1):c.446G>A (p.Arg149His) rs763538232 0.00002
NM_001854.4(COL11A1):c.1031C>T (p.Thr344Met) rs544289862 0.00002
NM_001854.4(COL11A1):c.2039A>G (p.Asn680Ser) rs375314757 0.00002
NM_001854.4(COL11A1):c.2722G>A (p.Gly908Ser) rs758953085 0.00002
NM_001854.4(COL11A1):c.3361T>G (p.Ser1121Ala) rs778937772 0.00002
NM_001854.4(COL11A1):c.475A>G (p.Ile159Val) rs774693614 0.00002
NM_002473.6(MYH9):c.318C>T (p.Tyr106=) rs202117532 0.00002
NM_003978.5(PSTPIP1):c.247+1G>A rs573784011 0.00002
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr) rs80357480 0.00002
NM_015559.3(SETBP1):c.3860C>T (p.Ser1287Leu) rs771332971 0.00002
NM_015559.3(SETBP1):c.4619C>T (p.Pro1540Leu) rs1037280105 0.00002
NM_024334.3(TMEM43):c.323T>C (p.Val108Ala) rs182351748 0.00002
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg) rs749494645 0.00002
NM_030665.4(RAI1):c.4855G>T (p.Asp1619Tyr) rs752659701 0.00002
NM_032119.4(ADGRV1):c.8308T>C (p.Phe2770Leu) rs375272281 0.00002
NM_080680.3(COL11A2):c.914C>T (p.Ser305Leu) rs1049821607 0.00002
NM_000038.6(APC):c.6403A>G (p.Ile2135Val) rs757633174 0.00001
NM_000059.4(BRCA2):c.2771A>T (p.Asn924Ile) rs80358530 0.00001
NM_000059.4(BRCA2):c.2946A>G (p.Ile982Met) rs80358541 0.00001
NM_000059.4(BRCA2):c.7466A>G (p.Asp2489Gly) rs80358970 0.00001
NM_000059.4(BRCA2):c.9076C>G (p.Gln3026Glu) rs80359159 0.00001
NM_000069.3(CACNA1S):c.1369C>T (p.Pro457Ser) rs372374492 0.00001
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser) rs181528936 0.00001
NM_000218.3(KCNQ1):c.1109C>T (p.Ala370Val) rs775362401 0.00001
NM_000384.3(APOB):c.11356C>T (p.Leu3786Phe) rs571485213 0.00001
NM_001008537.3(NEXMIF):c.3371A>T (p.Gln1124Leu) rs992677972 0.00001
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val) rs199474766 0.00001
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp) rs773378630 0.00001
NM_001128840.3(CACNA1D):c.2562G>A (p.Lys854=) rs1332817040 0.00001
NM_001205293.3(CACNA1E):c.2635C>T (p.Arg879Trp) rs771126920 0.00001
NM_001205293.3(CACNA1E):c.6641C>T (p.Pro2214Leu) rs767278261 0.00001
NM_001256071.3(RNF213):c.10567G>A (p.Gly3523Arg) rs547158013 0.00001
NM_001267550.2(TTN):c.74144C>T (p.Pro24715Leu) rs55713856 0.00001
NM_001290043.2(TAP2):c.139G>C (p.Gly47Arg) rs370260585 0.00001
NM_001367624.2(ZNF469):c.1768G>A (p.Glu590Lys) rs571115191 0.00001
NM_001367721.1(CASK):c.2317C>T (p.His773Tyr) rs398123811 0.00001
NM_001374828.1(ARID1B):c.1934T>A (p.Ile645Asn) rs1057522610 0.00001
NM_001376.5(DYNC1H1):c.390C>T (p.Pro130=) rs2273439 0.00001
NM_001844.5(COL2A1):c.4376G>A (p.Arg1459His) rs777416478 0.00001
NM_001854.4(COL11A1):c.1129G>T (p.Asp377Tyr) rs376421641 0.00001
NM_001854.4(COL11A1):c.1321G>A (p.Glu441Lys) rs995254814 0.00001
NM_001854.4(COL11A1):c.1493G>A (p.Arg498His) rs545363972 0.00001
NM_001854.4(COL11A1):c.1624C>T (p.Pro542Ser) rs745841296 0.00001
NM_001854.4(COL11A1):c.1859C>T (p.Pro620Leu) rs777479105 0.00001
NM_001854.4(COL11A1):c.2951G>A (p.Arg984His) rs147271219 0.00001
NM_001854.4(COL11A1):c.3077G>A (p.Arg1026His) rs944650989 0.00001
NM_001854.4(COL11A1):c.3185G>A (p.Arg1062His) rs1234848212 0.00001
NM_001854.4(COL11A1):c.3698A>G (p.Asn1233Ser) rs778311240 0.00001
NM_001854.4(COL11A1):c.3869C>G (p.Ala1290Gly) rs199555214 0.00001
NM_001854.4(COL11A1):c.437C>T (p.Pro146Leu) rs543199135 0.00001
NM_001854.4(COL11A1):c.4700A>G (p.Asp1567Gly) rs756511227 0.00001
NM_001854.4(COL11A1):c.4717T>C (p.Ser1573Pro) rs865904271 0.00001
NM_001854.4(COL11A1):c.478G>A (p.Ala160Thr) rs146954848 0.00001
NM_001854.4(COL11A1):c.496C>T (p.Arg166Trp) rs780211105 0.00001
NM_001854.4(COL11A1):c.5120G>A (p.Arg1707Gln) rs751989395 0.00001
NM_001927.4(DES):c.1180G>A (p.Val394Met) rs776786349 0.00001
NM_002473.6(MYH9):c.2618C>T (p.Thr873Met) rs763516009 0.00001
NM_002473.6(MYH9):c.4332G>A (p.Lys1444=) rs758755198 0.00001
NM_002691.4(POLD1):c.1148C>T (p.Thr383Ile) rs201654210 0.00001
NM_004113.6(FGF12):c.164C>T (p.Ala55Val) rs200858435 0.00001
NM_004187.5(KDM5C):c.2830A>T (p.Arg944Trp) rs1018074229 0.00001
NM_004360.5(CDH1):c.1162G>A (p.Glu388Lys) rs372838203 0.00001
NM_004817.4(TJP2):c.853C>T (p.Arg285Cys) rs546327568 0.00001
NM_004958.4(MTOR):c.3269G>C (p.Arg1090Pro) rs573466361 0.00001
NM_006231.4(POLE):c.4555C>T (p.Arg1519Cys) rs542430685 0.00001
NM_006231.4(POLE):c.4744C>T (p.Pro1582Ser) rs556887600 0.00001
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe) rs80357084 0.00001
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His) rs80356911 0.00001
NM_007294.4(BRCA1):c.3448C>T (p.Pro1150Ser) rs80357272 0.00001
NM_007294.4(BRCA1):c.3541G>A (p.Val1181Ile) rs56336919 0.00001
NM_007294.4(BRCA1):c.508C>T (p.Arg170Trp) rs80357325 0.00001
NM_007294.4(BRCA1):c.564A>G (p.Glu188=) rs768065826 0.00001
NM_014363.6(SACS):c.11737G>C (p.Asp3913His) rs746782589 0.00001
NM_014727.3(KMT2B):c.2323G>C (p.Ala775Pro) rs1969217856 0.00001
NM_014727.3(KMT2B):c.542G>A (p.Arg181Gln) rs368286257 0.00001
NM_015559.3(SETBP1):c.2148C>T (p.Ser716=) rs762804357 0.00001
NM_015559.3(SETBP1):c.2915G>A (p.Arg972Gln) rs759901142 0.00001
NM_015559.3(SETBP1):c.4034C>G (p.Thr1345Arg) rs148195272 0.00001
NM_015559.3(SETBP1):c.4058G>T (p.Gly1353Val) rs1486460574 0.00001
NM_018136.5(ASPM):c.2195T>C (p.Leu732Ser) rs587783224 0.00001
NM_024675.4(PALB2):c.1697G>A (p.Arg566His) rs144617793 0.00001
NM_024675.4(PALB2):c.2204C>T (p.Pro735Leu) rs199743500 0.00001
NM_024675.4(PALB2):c.734C>T (p.Ala245Val) rs571063157 0.00001
NM_030665.4(RAI1):c.2885C>T (p.Pro962Leu) rs1198795075 0.00001
NM_031407.7(HUWE1):c.11747C>T (p.Pro3916Leu) rs1430366832 0.00001
NM_032043.3(BRIP1):c.1018C>T (p.Leu340Phe) rs755796609 0.00001
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp) rs200062099 0.00001
NM_032043.3(BRIP1):c.2390A>G (p.Lys797Arg) rs730881622 0.00001
NM_032043.3(BRIP1):c.787C>T (p.Leu263Phe) rs1060501776 0.00001
NM_032119.4(ADGRV1):c.7030G>T (p.Ala2344Ser) rs373807911 0.00001
NM_032119.4(ADGRV1):c.7382C>T (p.Pro2461Leu) rs560465803 0.00001
NM_033305.3(VPS13A):c.3804A>C (p.Arg1268=) rs527418139 0.00001
NM_080680.3(COL11A2):c.1097C>T (p.Ala366Val) rs534335166 0.00001
NM_080680.3(COL11A2):c.1880G>A (p.Arg627Gln) rs528989984 0.00001
NM_080680.3(COL11A2):c.3182G>A (p.Arg1061Gln) rs528982644 0.00001
NM_080680.3(COL11A2):c.3446A>G (p.Asn1149Ser) rs754703121 0.00001
NM_080680.3(COL11A2):c.3545C>A (p.Pro1182Gln) rs1411737210 0.00001
NM_080680.3(COL11A2):c.4495G>A (p.Glu1499Lys) rs727504543 0.00001
NM_080680.3(COL11A2):c.5121G>T (p.Gln1707His) rs138667578 0.00001
NM_130837.3(OPA1):c.464C>T (p.Ala155Val) rs751318725 0.00001
NM_182961.4(SYNE1):c.9349G>A (p.Gly3117Arg) rs566953005 0.00001
NM_000038.6(APC):c.5723A>G (p.Asn1908Ser) rs1064795748
NM_000051.4(ATM):c.5556_5557delinsGA (p.Asp1853Asn) rs2083595502
NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile) rs150503164
NM_000051.4(ATM):c.8011-6T>G rs762092284
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000059.4(BRCA2):c.1730C>T (p.Ala577Val) rs876661280
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.4(BRCA2):c.28A>G (p.Thr10Ala) rs786203080
NM_000059.4(BRCA2):c.6304G>A (p.Val2102Ile) rs80358869
NM_000059.4(BRCA2):c.7559G>C (p.Arg2520Pro) rs80358982
NM_000059.4(BRCA2):c.7985C>T (p.Thr2662Met) rs431825362
NM_000059.4(BRCA2):c.9344A>G (p.Lys3115Arg) rs276174923
NM_000069.3(CACNA1S):c.3686G>A (p.Arg1229His) rs774416016
NM_000069.3(CACNA1S):c.773G>T (p.Gly258Val) rs35534614
NM_000091.5(COL4A3):c.4825C>A (p.Arg1609=) rs756231749
NM_000092.5(COL4A4):c.2776G>A (p.Glu926Lys)
NM_000141.5(FGFR2):c.2416G>A (p.Glu806Lys) rs764959117
NM_000179.3(MSH6):c.4002-11_4002-10del rs59056100
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) rs137852787
NM_000209.4(PDX1):c.97C>A (p.Pro33Thr) rs192902098
NM_000209.4(PDX1):c.97C>G (p.Pro33Ala) rs192902098
NM_000245.4(MET):c.3936-13_3936-10del rs745366999
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066
NM_000384.3(APOB):c.2863C>T (p.Pro955Ser)
NM_000384.3(APOB):c.2981C>T (p.Pro994Leu)
NM_000384.3(APOB):c.307T>C (p.Tyr103His)
NM_000384.3(APOB):c.7285T>A (p.Ser2429Thr)
NM_000384.3(APOB):c.7619G>T (p.Gly2540Val) rs571626569
NM_000395.3(CSF2RB):c.2124del (p.Ser709fs) rs568607741
NM_000399.5(EGR2):c.910GCC[7] (p.Ala309dup) rs753747037
NM_000444.6(PHEX):c.436+4A>G rs1057520344
NM_000455.5(STK11):c.1041G>A (p.Ala347=) rs537906142
NM_000458.4(HNF1B):c.226G>T (p.Gly76Cys)
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
NM_000493.4(COL10A1):c.1300_1322del (p.Gly434fs) rs753599581
NM_000501.4(ELN):c.1178_1201del (p.Gly393_Gly400del) rs781838239
NM_000516.7(GNAS):c.-18_-16GCC[9] rs745433225
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000540.3(RYR1):c.11049GGA[4] (p.Glu3689del) rs760784102
NM_000545.8(HNF1A):c.-124G>C rs563304627
NM_000546.6(TP53):c.256G>A (p.Ala86Thr) rs587782148
NM_000744.7(CHRNA4):c.1726G>C (p.Asp576His) rs537904499
NM_000899.5(KITLG):c.67G>A (p.Val23Ile)
NM_000939.4(POMC):c.394C>G (p.Pro132Ala) rs8192606
NM_001042545.2(LTBP4):c.1355_1366del (p.Asp452_Pro455del) rs529188563
NM_001042681.2(RERE):c.2449_2460dup (p.Pro817_Pro820dup) rs749071713
NM_001080414.4(CCDC88C):c.4538C>T (p.Ser1513Leu)
NM_001083614.2(EARS2):c.263_264delinsAA (p.Ala88Glu) rs1555504721
NM_001083614.2(EARS2):c.569G>A (p.Arg190His) rs533072942
NM_001101362.3(KBTBD13):c.742C>T (p.Arg248Cys) rs200549195
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup) rs398123566
NM_001127222.2(CACNA1A):c.6466C>G (p.Arg2156Gly) rs554393704
NM_001127644.2(GABRA1):c.1225C>T (p.Pro409Ser) rs139793542
NM_001134363.3(RBM20):c.125AGC[3] (p.Gln43dup) rs397516593
NM_001142864.4(PIEZO1):c.2132T>A (p.Met711Lys)
NM_001142864.4(PIEZO1):c.4640G>A (p.Arg1547His)
NM_001142864.4(PIEZO1):c.5564C>T (p.Pro1855Leu)
NM_001142864.4(PIEZO1):c.5590C>T (p.Arg1864Cys)
NM_001142864.4(PIEZO1):c.6886A>C (p.Thr2296Pro)
NM_001144967.3(NEDD4L):c.1249A>G (p.Ile417Val) rs1057524052
NM_001148.6(ANK2):c.10976G>T (p.Arg3659Leu) rs556640912
NM_001148.6(ANK2):c.2806C>G (p.Leu936Val) rs786205725
NM_001161352.2(KCNMA1):c.117CTC[5] (p.Ser59_Ser60del) rs572827902
NM_001190274.2(FBXO11):c.427T>G (p.Ser143Ala) rs1284695050
NM_001195.5(BFSP1):c.106_107delinsTT (p.Ala36Phe) rs886038419
NM_001205293.3(CACNA1E):c.3011C>A (p.Thr1004Asn) rs1655719165
NM_001205293.3(CACNA1E):c.4565C>T (p.Ser1522Phe)
NM_001205293.3(CACNA1E):c.5045C>G (p.Thr1682Ser) rs775398717
NM_001205293.3(CACNA1E):c.50G>A (p.Gly17Glu)
NM_001205293.3(CACNA1E):c.5762T>G (p.Leu1921Arg) rs770750685
NM_001243279.3(ACSF3):c.1406G>A (p.Arg469Gln) rs144681140
NM_001267550.2(TTN):c.49814T>G (p.Val16605Gly) rs781195013
NM_001267550.2(TTN):c.53122_53123delinsGT (p.Lys17708Val) rs886042743
NM_001273.5(CHD4):c.1040G>A (p.Arg347Gln)
NM_001291303.3(FAT4):c.3515C>T (p.Thr1172Ile) rs535333070
NM_001292063.2(OTOG):c.1353C>A (p.Phe451Leu) rs189947237
NM_001297.5(CNGB1):c.2853C>A (p.Asp951Glu) rs7190978
NM_001356.5(DDX3X):c.1616-4_1616-3del rs751868529
NM_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp) rs117500243
NM_001365276.2(TNXB):c.8542G>C (p.Gly2848Arg) rs61745355
NM_001367624.2(ZNF469):c.10331G>T (p.Gly3444Val) rs530393871
NM_001367624.2(ZNF469):c.9368G>A (p.Arg3123His) rs536601676
NM_001375524.1(TRRAP):c.4415G>A (p.Arg1472His)
NM_001378120.1(MBD5):c.644G>A (p.Arg215His) rs771325235
NM_001378452.1(ITPR1):c.-2A>G rs369723935
NM_001378609.3(OTOGL):c.5729C>T (p.Thr1910Met) rs375155261
NM_001844.5(COL2A1):c.3827G>A (p.Arg1276His) rs142168567
NM_001844.5(COL2A1):c.4389T>G (p.Ile1463Met) rs1224083058
NM_001845.6(COL4A1):c.2144G>A (p.Arg715His) rs199573161
NM_001853.4(COL9A3):c.665C>T (p.Pro222Leu) rs202005710
NM_001854.4(COL11A1):c.1201T>C (p.Phe401Leu) rs141817156
NM_001854.4(COL11A1):c.1718C>T (p.Thr573Met) rs202011565
NM_001854.4(COL11A1):c.2285G>A (p.Arg762Gln) rs758825857
NM_001854.4(COL11A1):c.2551C>T (p.Pro851Ser)
NM_001854.4(COL11A1):c.3175C>G (p.Pro1059Ala)
NM_001854.4(COL11A1):c.352A>G (p.Ile118Val)
NM_001854.4(COL11A1):c.4805A>G (p.Asn1602Ser) rs75495145
NM_001854.4(COL11A1):c.497G>A (p.Arg166Gln) rs142753283
NM_001854.4(COL11A1):c.560C>A (p.Thr187Lys) rs184606223
NM_001854.4(COL11A1):c.565C>A (p.Pro189Thr) rs201557468
NM_002296.4(LBR):c.629G>T (p.Gly210Val) rs565288775
NM_002335.4(LRP5):c.3446T>A (p.Leu1149Gln) rs200389686
NM_002336.3(LRP6):c.113A>G (p.Asn38Ser)
NM_002473.5(MYH9):c.2344G>A rs139966058
NM_002473.6(MYH9):c.2807C>T (p.Ala936Val)
NM_002473.6(MYH9):c.3677G>T (p.Arg1226Leu) rs200697030
NM_002473.6(MYH9):c.5807G>A (p.Arg1936Gln)
NM_002473.6(MYH9):c.626G>A (p.Arg209Gln)
NM_002500.5(NEUROD1):c.723C>G (p.His241Gln) rs561017686
NM_002528.7(NTHL1):c.792-3C>T rs3087467
NM_002887.4(RARS1):c.741G>A (p.Met247Ile)
NM_002894.3(RBBP8):c.808-11del rs368252010
NM_003070.5(SMARCA2):c.1941G>T (p.Glu647Asp)
NM_003108.4(SOX11):c.588C>A (p.Asp196Glu) rs544581532
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln) rs149845612
NM_004006.3(DMD):c.932A>G (p.Asp311Gly) rs760932600
NM_004064.5(CDKN1B):c.-7G>A rs751341214
NM_004304.5(ALK):c.2577G>C (p.Glu859Asp) rs61754865
NM_004380.3(CREBBP):c.2355_2366del (p.Ala787_Gln790del) rs755265819
NM_004793.4(LONP1):c.2581G>A (p.Val861Ile)
NM_004958.4(MTOR):c.3578C>T (p.Pro1193Leu)
NM_004958.4(MTOR):c.5432G>A (p.Arg1811His) rs751393552
NM_004958.4(MTOR):c.5502_5519dup (p.Ala1835_Thr1840dup) rs770515802
NM_004975.4(KCNB1):c.2396G>A (p.Ser799Asn) rs1256695300
NM_005245.4(FAT1):c.3349G>A (p.Val1117Met) rs149295542
NM_005245.4(FAT1):c.6361A>G (p.Lys2121Glu)
NM_005422.4(TECTA):c.5672C>T (p.Thr1891Met)
NM_005445.4(SMC3):c.1410-6_1410-3del rs546049291
NM_005502.4(ABCA1):c.613C>A (p.Gln205Lys)
NM_005559.4(LAMA1):c.4066G>A (p.Ala1356Thr)
NM_005591.4(MRE11):c.1090C>A (p.Arg364=) rs371077728
NM_006015.6(ARID1A):c.1649C>A (p.Pro550His) rs761975620
NM_006015.6(ARID1A):c.488C>T (p.Ala163Val) rs2080268991
NM_006031.6(PCNT):c.8830_8832del (p.Lys2944del) rs562568796
NM_006086.4(TUBB3):c.805G>A (p.Gly269Ser) rs2151092918
NM_006158.5(NEFL):c.338_339delinsCC (p.Gln113Pro) rs1554497641
NM_006231.4(POLE):c.1781C>T (p.Thr594Ile) rs574033788
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006502.3(POLH):c.1000C>G (p.Arg334Gly) rs9333548
NM_006579.3(EBP):c.38C>G (p.Pro13Arg)
NM_006767.4(LZTR1):c.26G>C (p.Gly9Ala) rs756485244
NM_007078.3(LDB3):c.1325C>T (p.Ala442Val) rs786205349
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007254.4(PNKP):c.1385G>A (p.Arg462Gln) rs376854895
NM_012208.4(HARS2):c.1439G>T (p.Arg480Leu) rs200089613
NM_014252.4(SLC25A15):c.565G>A (p.Gly189Ser) rs151239794
NM_014363.6(SACS):c.3912G>T (p.Leu1304Phe)
NM_014727.3(KMT2B):c.2081G>A (p.Arg694Gln)
NM_015046.7(SETX):c.7200-11_7200-10del rs531485265
NM_015335.5(MED13L):c.3913C>T (p.His1305Tyr) rs1231044656
NM_015559.3(SETBP1):c.1598C>T (p.Thr533Ile) rs2145099229
NM_015559.3(SETBP1):c.3397A>T (p.Asn1133Tyr)
NM_015559.3(SETBP1):c.4234C>G (p.Arg1412Gly) rs145996171
NM_015662.3(IFT172):c.1525-6C>G rs201231401
NM_015713.5(RRM2B):c.551-11_551-10del rs771845744
NM_016097.5(IER3IP1):c.170G>A (p.Arg57Gln) rs149009126
NM_016222.4(DDX41):c.591G>A (p.Lys197=)
NM_016239.4(MYO15A):c.950C>T (p.Ala317Val)
NM_016373.4(WWOX):c.*200GGGCT[1] rs144412859
NM_017950.4(CCDC40):c.2900G>A (p.Arg967His) rs61686936
NM_018122.5(DARS2):c.228-14C>G rs376561321
NM_018896.5(CACNA1G):c.2754+4C>T
NM_018979.4(WNK1):c.6624C>A (p.Ser2208Arg) rs72650768
NM_019032.6(ADAMTSL4):c.2288C>T (p.Pro763Leu) rs56055939
NM_020778.4(ALPK3):c.431_435CCAGG[3] (p.Glu148Glnfs) rs527847958
NM_020821.3(VPS13C):c.6039-4del
NM_021628.3(ALOXE3):c.1559_1562+3dup rs552323537
NM_022114.4(PRDM16):c.2815C>G (p.Leu939Val) rs150022595
NM_024101.7(MLPH):c.1142AGG[2] (p.Glu383del) rs528863829
NM_024570.4(RNASEH2B):c.925del (p.Ile309fs) rs75254367
NM_024675.4(PALB2):c.2752C>T (p.Pro918Ser) rs515726094
NM_024757.5(EHMT1):c.82G>C (p.Glu28Gln) rs1342402816
NM_030665.4(RAI1):c.2391C>A (p.Asp797Glu)
NM_030665.4(RAI1):c.4310C>T (p.Pro1437Leu) rs1453585230
NM_032043.3(BRIP1):c.2372A>T (p.Asp791Val) rs876658934
NM_032119.4(ADGRV1):c.11060G>A (p.Arg3687His)
NM_032119.4(ADGRV1):c.15737G>A (p.Arg5246Gln) rs772037044
NM_033163.5(FGF8):c.86_103dup (p.Gly29_Arg34dup) rs762175290
NM_052876.4(NACC1):c.1010G>A (p.Arg337Gln) rs2019706242
NM_080680.3(COL11A2):c.15C>T (p.Ser5=)
NM_080680.3(COL11A2):c.3343C>T (p.Pro1115Ser) rs372806452
NM_080680.3(COL11A2):c.3622C>G (p.Pro1208Ala) rs374515005
NM_080680.3(COL11A2):c.973G>A (p.Asp325Asn) rs369790491
NM_130837.3(OPA1):c.1737G>C (p.Gln579His) rs538099724
NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr) rs200686732
NM_138715.3(MSR1):c.877C>T (p.Arg293Ter) rs41341748
NM_139076.3(ABRAXAS1):c.364C>G (p.Gln122Glu) rs137876115
NM_144573.4(NEXN):c.1573GAA[3] (p.Glu528del) rs764505909
NM_144687.4(NLRP12):c.3088C>G (p.Arg1030Gly) rs201619538
NM_152906.7(TANGO2):c.56+122_56+131del rs545147497
NM_170606.3(KMT2C):c.7388G>A (p.Arg2463His)
NM_170707.4(LMNA):c.937-8C>G rs751707982
NM_172362.3(KCNH1):c.2486G>A (p.Gly829Asp) rs759201321
NM_174936.4(PCSK9):c.1405C>T (p.Arg469Trp)
NM_177986.5(DSG4):c.2295_2296insTCAGGGGCCGCAAGGAAGAGGAGCTCTACCATGGGAGCC (p.Thr765_Leu766insSerGlyAlaAlaArgLysArgSerSerThrMetGlyAla) rs577438163
NM_178857.6(RP1L1):c.803C>A (p.Pro268Gln)
NM_182641.4(BPTF):c.5884A>G (p.Thr1962Ala)
NM_183357.3(ADCY5):c.471G>T (p.Glu157Asp)
NM_194248.3(OTOF):c.32C>T (p.Ser11Leu) rs200972155
NM_198334.3(GANAB):c.367C>G (p.Pro123Ala)
NM_198999.3(SLC26A5):c.571-12dup rs753273893
NM_201525.4(ADGRG1):c.843_844delinsGC (p.Ser281_Gly282delinsArgArg) rs1057517931
NM_207361.6(FREM2):c.3035_3040dup (p.Gly1012_Ser1013dup) rs570476408

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