ClinVar Miner

List of variants reported for not provided by Genome Diagnostics Laboratory, University Medical Center Utrecht

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ClinVar version:
Total variants: 5364
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HGVS dbSNP gnomAD frequency
NM_000363.5(TNNI3):c.373-10= rs7252610 0.99999
NM_006790.3(MYOT):c.220= (p.Gln74=) rs6890689 0.98540
NM_001814.6(CTSC):c.458T>C (p.Ile153Thr) rs217086 0.87257
NM_001308093.3(GATA4):c.617-113T>C rs3735819 0.80128
NM_004836.7(EIF2AK3):c.439-170A>G rs7571971 0.77862
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr) rs1494558 0.68368
NM_000170.3(GLDC):c.*7G>C rs2228098 0.66615
NM_000448.3(RAG1):c.746A>G (p.His249Arg) rs3740955 0.48211
NM_000243.3(MEFV):c.1764G>A (p.Pro588=) rs1231122 0.41230
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro) rs5956583 0.38953
NM_001164508.2(NEB):c.13353C>T (p.Ala4451=) rs774726264 0.33333
NM_052845.4(MMAB):c.57C>A (p.Arg19=) rs10774774 0.31358
NM_001127701.1(SERPINA1):c.710T>C (p.Val237Ala) rs6647 0.31278
NM_000074.3(CD40LG):c.410-13T>C rs3092923 0.27747
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977 0.23048
NM_025000.4(DCAF17):c.322-14C>T rs192861143 0.20151
NR_003051.4(RMRP):n.158G>C rs7021463 0.17549
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile) rs1805388 0.16468
NM_021098.3(CACNA1H):c.3846-6A>C rs780882373 0.14047
NM_000265.7(NCF1):c.345C>T (p.Leu115=) rs17356100 0.12720
NM_000410.4(HFE):c.187C>G (p.His63Asp) rs1799945 0.10170
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu) rs11479 0.09354
NM_000186.4(CFH):c.3019G>T (p.Val1007Leu) rs534399 0.08522
NM_001365276.2(TNXB):c.3764G>A (p.Arg1255His) rs12211410 0.08362
NM_000041.2(APOE):c.526C>T (p.Arg176Cys) rs7412 0.07986
NM_003865.3(HESX1):c.374A>G (p.Asn125Ser) rs9878928 0.07568
NM_000137.4(FAH):c.267G>C (p.Leu89=) rs33929922 0.07529
NM_002471.4(MYH6):c.166G>A (p.Gly56Arg) rs28711516 0.06950
NM_001171.6(ABCC6):c.793A>G (p.Arg265Gly) rs72657698 0.06836
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06742
NM_000186.4(CFH):c.2669G>T (p.Ser890Ile) rs515299 0.06393
NM_000335.5(SCN5A):c.274-24C>T rs7627488 0.06378
NM_001009944.3(PKD1):c.12409C>T (p.Leu4137=) rs79899502 0.05705
NM_003036.4(SKI):c.185C>G (p.Ala62Gly) rs28384811 0.05253
NM_206937.2(LIG4):c.8C>T (p.Ala3Val) rs1805389 0.04996
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_014049.5(ACAD9):c.-44_-41dup rs387906242 0.04863
NM_006516.4(SLC2A1):c.1065A>G (p.Leu355=) rs2228490 0.04552
NM_004113.6(FGF12):c.229-7C>T rs79608878 0.04458
NM_005477.3(HCN4):c.107G>A (p.Gly36Glu) rs143090627 0.04452
NM_001130987.2(DYSF):c.2554A>G (p.Ile852Val) rs34671418 0.04349
NM_032122.5(DTNBP1):c.814C>T (p.Pro272Ser) rs17470454 0.04338
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406 0.04069
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03859
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val) rs6339 0.03698
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) rs6336 0.03696
NM_032545.4(CFC1):c.588C>A (p.Pro196=) rs587780885 0.03574
NM_001267550.2(TTN):c.105180G>C (p.Glu35060Asp) rs56308529 0.03418
NM_013275.6(ANKRD11):c.6787C>T (p.Pro2263Ser) rs76793093 0.03409
NM_001171.6(ABCC6):c.346-6G>A rs55778939 0.03265
NM_000062.3(SERPING1):c.-21T>C rs28362944 0.03250
NM_182914.3(SYNE2):c.10567A>C (p.Lys3523Gln) rs35203186 0.03124
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03116
NM_015346.4(ZFYVE26):c.7232G>A (p.Arg2411His) rs34373049 0.03090
NM_003331.5(TYK2):c.3310C>G (p.Pro1104Ala) rs34536443 0.02850
NM_002354.3(EPCAM):c.492-5T>C rs78608315 0.02826
NM_004820.5(CYP7B1):c.971G>A (p.Arg324His) rs59035258 0.02701
NM_021625.5(TRPV4):c.2459-9T>G rs115373018 0.02700
NM_003240.5(LEFTY2):c.857C>T (p.Pro286Leu) rs2295418 0.02669
NM_024496.4(IRF2BPL):c.336_346del (p.Gln113fs) rs776735350 0.02660
NM_002661.5(PLCG2):c.770A>T (p.His257Leu) rs45443101 0.02615
NM_001130987.2(DYSF):c.3119G>A (p.Arg1040Gln) rs34211915 0.02614
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) rs35996821 0.02553
NM_001386125.1(OBSCN):c.2894G>A (p.Arg965Lys) rs61560753 0.02514
NM_000069.3(CACNA1S):c.2063+7G>T rs79984703 0.02430
NM_148919.4(PSMB8):c.22G>A (p.Gly8Arg) rs114772012 0.02384
NM_001267550.2(TTN):c.22786G>C (p.Asp7596His) rs72648970 0.02369
NM_001127222.2(CACNA1A):c.3028C>G (p.Pro1010Ala) rs28413664 0.02366
NM_001267550.2(TTN):c.65147C>T (p.Ser21716Leu) rs13021201 0.02363
NM_001377.3(DYNC2H1):c.4728C>G (p.Asn1576Lys) rs72989738 0.02353
NM_000334.4(SCN4A):c.3720+10A>G rs111679484 0.02281
NM_003611.3(OFD1):c.2387+11C>T rs140369491 0.02280
NM_001365536.1(SCN9A):c.3802-8T>C rs76550960 0.02262
NM_005257.6(GATA6):c.43G>C (p.Gly15Arg) rs116262672 0.02238
NM_032119.4(ADGRV1):c.7229A>G (p.Tyr2410Cys) rs111033430 0.02235
NM_001361.5(DHODH):c.1022C>T (p.Ala341Val) rs61733129 0.02206
NM_005373.3(MPL):c.340G>A (p.Val114Met) rs12731981 0.02191
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) rs3092856 0.02156
NM_000540.3(RYR1):c.11266C>G (p.Gln3756Glu) rs4802584 0.02143
NM_001164508.2(NEB):c.7310G>A (p.Arg2437Gln) rs61730780 0.02113
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln) rs3743930 0.02112
NM_001267550.2(TTN):c.37040-13A>G rs760603937 0.02053
NM_001164508.2(NEB):c.16021T>C (p.Leu5341=) rs796103760 0.02016
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr) rs3731249 0.02007
NM_032119.4(ADGRV1):c.7576A>G (p.Ile2526Val) rs75191159 0.01965
NM_001365951.3(KIF1B):c.2115+6360G>T rs41274458 0.01961
NM_000391.4(TPP1):c.1266+5G>A rs1800753 0.01932
NM_022489.4(INF2):c.3478G>A (p.Gly1160Ser) rs9672065 0.01930
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala) rs34154371 0.01899
NM_001364905.1(LRBA):c.2170A>G (p.Ile724Val) rs72719663 0.01896
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp) rs2235000 0.01889
NM_014476.6(PDLIM3):c.734C>T (p.Thr245Ile) rs62347360 0.01871
NM_001267550.2(TTN):c.36952G>A (p.Val12318Ile) rs762149243 0.01857
NM_002334.4(LRP4):c.5165T>A (p.Leu1722His) rs117936904 0.01806
NM_000265.7(NCF1):c.496A>G (p.Asn166Asp) rs782555266 0.01786
NM_001378454.1(ALMS1):c.10303A>G (p.Lys3435Glu) rs34071195 0.01772
NM_001199107.2(TBC1D24):c.1526-20C>T rs114367256 0.01755
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NR_001566.1(TERC):n.58G>A rs113487931 0.01733
NM_001171.6(ABCC6):c.2836C>A (p.Leu946Ile) rs61340537 0.01730
NM_199242.3(UNC13D):c.2782C>T (p.Arg928Cys) rs35037984 0.01713
NM_005676.5(RBM10):c.1891G>C (p.Ala631Pro) rs79693964 0.01703
NM_004366.6(CLCN2):c.2154G>C (p.Glu718Asp) rs2228292 0.01679
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val) rs11568438 0.01617
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_004366.6(CLCN2):c.2063G>A (p.Arg688Gln) rs111656822 0.01603
NM_000186.4(CFH):c.477T>C (p.Ser159=) rs34940854 0.01586
NM_012452.3(TNFRSF13B):c.659T>C (p.Val220Ala) rs56063729 0.01586
NM_014384.3(ACAD8):c.512C>G (p.Ser171Cys) rs113488591 0.01568
NM_000334.4(SCN4A):c.968C>T (p.Thr323Met) rs80338952 0.01562
NM_001370658.1(BTD):c.1111C>T (p.Pro371Ser) rs35034250 0.01555
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748 0.01542
NM_001134888.3(RTL1):c.1672C>A (p.Pro558Thr) rs41286560 0.01542
NM_001267550.2(TTN):c.74972T>C (p.Ile24991Thr) rs744427 0.01542
NM_021098.3(CACNA1H):c.1664C>T (p.Ala555Val) rs9924241 0.01528
NM_000525.4(KCNJ11):c.801C>G (p.Leu267=) rs5216 0.01521
NM_000642.3(AGL):c.82+1565T>G rs145049634 0.01521
NM_000186.4(CFH):c.245-7G>A rs35814900 0.01519
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=) rs66523653 0.01518
NM_001171.6(ABCC6):c.3507-3C>T rs41278172 0.01517
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) rs45494092 0.01508
NM_001267550.2(TTN):c.65743C>A (p.Gln21915Lys) rs62618736 0.01503
NM_001291303.3(FAT4):c.1101A>G (p.Val367=) rs57692448 0.01498
NM_005045.4(RELN):c.2932A>G (p.Thr978Ala) rs3025962 0.01491
NM_015338.6(ASXL1):c.374-9C>T rs6087903 0.01488
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687 0.01478
NM_001267550.2(TTN):c.80635C>A (p.Gln26879Lys) rs79926414 0.01477
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) rs74874677 0.01472
NM_201384.3(PLEC):c.1706G>A (p.Arg569Gln) rs3135103 0.01472
NM_001267550.2(TTN):c.40141+7G>A rs77960621 0.01470
NM_198578.4(LRRK2):c.4317+12del rs200829235 0.01470
NM_006950.3(SYN1):c.1699A>G (p.Thr567Ala) rs200533370 0.01462
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg) rs61742937 0.01445
NM_001114753.3(ENG):c.1794T>C (p.Gly598=) rs41358947 0.01435
NM_005373.3(MPL):c.117G>T (p.Lys39Asn) rs17292650 0.01420
NM_013964.5(NRG1):c.1633C>T (p.Arg545Trp) rs80127039 0.01399
NM_000026.4(ADSL):c.440A>T (p.Lys147Met) rs11089991 0.01397
NM_025074.7(FRAS1):c.11717T>C (p.Ile3906Thr) rs61748814 0.01397
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_006493.4(CLN5):c.381T>G (p.Thr127=) rs34481987 0.01377
NM_004153.4(ORC1):c.1115C>T (p.Ala372Val) rs3087476 0.01375
NM_001267550.2(TTN):c.105769G>A (p.Glu35257Lys) rs56324595 0.01363
NM_001267550.2(TTN):c.10700G>A (p.Ser3567Asn) rs72955213 0.01357
NM_032545.4(CFC1):c.606G>C (p.Leu202=) rs587780887 0.01351
NM_002838.5(PTPRC):c.1710T>A (p.His570Gln) rs12136658 0.01344
NM_005055.5(RAPSN):c.614G>A (p.Arg205Gln) rs34625105 0.01344
NM_004407.4(DMP1):c.1388A>G (p.Lys463Arg) rs34661425 0.01341
NM_032122.5(DTNBP1):c.886C>T (p.Pro296Ser) rs74907982 0.01341
NM_003748.4(ALDH4A1):c.1162T>C (p.Phe388Leu) rs41273175 0.01334
NM_006231.4(POLE):c.91G>T (p.Ala31Ser) rs34047482 0.01320
NM_004082.5(DCTN1):c.1484G>A (p.Arg495Gln) rs17721059 0.01316
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334 0.01298
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474 0.01282
NM_000053.4(ATP7B):c.1707+9T>C rs114449708 0.01274
NM_025074.7(FRAS1):c.8417C>T (p.Thr2806Met) rs114190041 0.01251
NM_025074.7(FRAS1):c.9955C>G (p.Gln3319Glu) rs78619145 0.01249
NM_020451.3(SELENON):c.409A>G (p.Thr137Ala) rs35019869 0.01231
NM_001127222.2(CACNA1A):c.579G>A (p.Thr193=) rs41276894 0.01215
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725 0.01203
NM_000271.5(NPC1):c.3246-20G>A rs6507717 0.01199
NM_001267550.2(TTN):c.36625G>T (p.Val12209Leu) rs72650053 0.01188
NM_198525.3(KIF7):c.2481C>T (p.Asn827=) rs35837280 0.01186
NM_003722.5(TP63):c.1652+14A>C rs150685395 0.01158
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) rs35312232 0.01146
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) rs35793208 0.01141
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148 0.01138
NM_001130823.3(DNMT1):c.206G>A (p.Arg69His) rs61750053 0.01134
NM_005591.4(MRE11):c.1994+10G>A rs1805366 0.01130
NM_001330260.2(SCN8A):c.3076C>T (p.Arg1026Cys) rs117217073 0.01112
NM_000053.4(ATP7B):c.3366A>G (p.Ala1122=) rs59120265 0.01110
NM_001199107.2(TBC1D24):c.1509C>T (p.Ser503=) rs189089167 0.01110
NM_032119.4(ADGRV1):c.7945+6C>T rs139278305 0.01100
NM_001377265.1(MAPT):c.862G>A (p.Gly288Arg) rs76375268 0.01093
NM_000264.5(PTCH1):c.2199A>G (p.Ser733=) rs2227970 0.01091
NM_004369.4(COL6A3):c.4727G>A (p.Arg1576Gln) rs61729839 0.01085
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768 0.01081
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp) rs36021856 0.01079
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01077
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile) rs55842557 0.01073
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu) rs34629171 0.01070
NM_001276345.2(TNNT2):c.294+7G>A rs45490292 0.01066
NM_000152.5(GAA):c.1075+13C>T rs41292402 0.01065
NM_002335.4(LRP5):c.3918G>A (p.Ala1306=) rs11574425 0.01064
NM_006267.5(RANBP2):c.5175A>G (p.Glu1725=) rs535428027 0.01063
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys) rs2230288 0.01061
NM_004369.4(COL6A3):c.2419G>A (p.Ala807Thr) rs113155945 0.01061
NM_020451.3(SELENON):c.583G>A (p.Ala195Thr) rs115852080 0.01060
NM_002633.3(PGM1):c.247-5664G>A rs77043134 0.01056
NM_001127222.2(CACNA1A):c.2192A>C (p.Glu731Ala) rs16019 0.01053
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01035
NM_001035.3(RYR2):c.11880+13_11880+16del rs199562036 0.01032
NM_005477.3(HCN4):c.1683C>A (p.Gly561=) rs62641690 0.01030
NM_006949.4(STXBP2):c.1034C>T (p.Thr345Met) rs117761837 0.01028
NM_152564.5(VPS13B):c.11044+13G>A rs116819080 0.01028
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_004006.3(DMD):c.3734C>T (p.Thr1245Ile) rs1800269 0.01009
NM_001848.3(COL6A1):c.2441A>G (p.Lys814Arg) rs11553518 0.01008
NM_001846.4(COL4A2):c.3368A>G (p.Glu1123Gly) rs117412802 0.01005
NM_002335.4(LRP5):c.4574C>T (p.Ala1525Val) rs1127291 0.01003
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046 0.01000
NM_000250.2(MPO):c.752T>C (p.Met251Thr) rs56378716 0.00999
NM_001360.3(DHCR7):c.99-4G>A rs140748737 0.00988
NM_152246.3(CPT1B):c.1876-15A>G rs41309651 0.00986
NM_001849.4(COL6A2):c.1552C>T (p.Pro518Ser) rs141166141 0.00982
NM_006059.4(LAMC3):c.454C>T (p.Arg152Cys) rs45628035 0.00975
NM_002661.5(PLCG2):c.82A>T (p.Met28Leu) rs61749044 0.00973
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966 0.00972
NM_007325.5(GRIA3):c.1501-8T>A rs139058646 0.00969
NM_018100.4(EFHC1):c.881G>A (p.Arg294His) rs1570624 0.00969
NM_032444.4(SLX4):c.1153C>A (p.Pro385Thr) rs115694169 0.00968
NM_001267550.2(TTN):c.43603C>T (p.Arg14535Cys) rs12471771 0.00967
NM_152705.3(POLR1D):c.278A>G (p.His93Arg) rs118191175 0.00967
NM_000528.4(MAN2B1):c.2562C>G (p.Ala854=) rs10410289 0.00964
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018 0.00964
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn) rs114814747 0.00964
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=) rs61734313 0.00959
NM_182961.4(SYNE1):c.12061T>C (p.Cys4021Arg) rs111449472 0.00935
NM_019892.6(INPP5E):c.1387+19C>T rs114698406 0.00926
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys) rs138611001 0.00910
NM_001040142.2(SCN2A):c.5919C>T (p.Pro1973=) rs73025979 0.00908
NM_153240.5(NPHP3):c.450G>A (p.Ala150=) rs78527322 0.00906
NM_017813.5(BPNT2):c.856A>G (p.Lys286Glu) rs112433249 0.00905
NM_006262.4(PRPH):c.26G>A (p.Arg9Gln) rs57451017 0.00901
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr) rs5744991 0.00898
NM_001111125.3(IQSEC2):c.4408G>A (p.Ala1470Thr) rs191886831 0.00894
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg) rs1800746 0.00889
NM_001127198.5(TMC6):c.610C>T (p.Arg204Trp) rs139654750 0.00880
NM_000540.3(RYR1):c.10259+7G>A rs143752962 0.00875
NM_000334.4(SCN4A):c.2341G>A (p.Val781Ile) rs62070884 0.00873
NM_006846.4(SPINK5):c.2905A>G (p.Lys969Glu) rs3188691 0.00856
NM_001061.7(TBXAS1):c.1246C>G (p.Gln416Glu) rs4528 0.00853
NM_001164508.2(NEB):c.16669A>G (p.Ile5557Val) rs113439353 0.00852
NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp) rs5030672 0.00847
NM_014339.7(IL17RA):c.1819G>A (p.Glu607Lys) rs28376631 0.00845
NM_001458.5(FLNC):c.6771A>G (p.Pro2257=) rs34422412 0.00842
NM_012188.5(FOXI1):c.1014G>A (p.Ala338=) rs55685928 0.00841
NM_001370466.1(NOD2):c.1752C>T (p.Ala584=) rs61736932 0.00840
NM_020549.5(CHAT):c.1682G>A (p.Arg561Gln) rs80097077 0.00825
NM_003673.4(TCAP):c.316C>T (p.Arg106Cys) rs45578741 0.00813
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg) rs77632596 0.00808
NM_001291303.3(FAT4):c.8544C>T (p.Ser2848=) rs139132509 0.00802
NM_002661.5(PLCG2):c.1712A>G (p.Asn571Ser) rs75472618 0.00802
NM_005689.4(ABCB6):c.1562C>G (p.Thr521Ser) rs149363094 0.00792
NM_005529.7(HSPG2):c.8929C>T (p.Arg2977Trp) rs114851469 0.00786
NM_032119.4(ADGRV1):c.7079G>A (p.Arg2360His) rs111033470 0.00784
NM_000393.5(COL5A2):c.1104+15T>C rs75486409 0.00772
NM_182961.4(SYNE1):c.12079-12G>T rs73783853 0.00771
NM_000393.5(COL5A2):c.975C>T (p.Pro325=) rs144344474 0.00770
NM_032119.4(ADGRV1):c.7179C>T (p.Asp2393=) rs111033429 0.00767
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) rs56177950 0.00760
NM_002440.4(MSH4):c.2520G>C (p.Glu840Asp) rs114093703 0.00759
NM_001142864.4(PIEZO1):c.7529C>T (p.Pro2510Leu) rs61745086 0.00748
NM_003664.5(AP3B1):c.2324T>A (p.Ile775Lys) rs62001050 0.00745
NM_153766.3(KCNJ1):c.1013T>C (p.Met338Thr) rs59172778 0.00742
NM_001035.3(RYR2):c.3407C>T (p.Ala1136Val) rs72549415 0.00737
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg) rs148398509 0.00737
NM_015311.3(OBSL1):c.4361G>A (p.Arg1454Gln) rs183329050 0.00737
NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr) rs141933811 0.00728
NM_000501.4(ELN):c.1622-13C>T rs41362346 0.00728
NM_000070.3(CAPN3):c.319G>A (p.Glu107Lys) rs1801505 0.00719
NM_002335.4(LRP5):c.687-8G>A rs190810239 0.00718
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys) rs141703710 0.00717
NM_001099857.5(IKBKG):c.337G>A (p.Asp113Asn) rs179363896 0.00715
NM_021098.3(CACNA1H):c.3175G>T (p.Ala1059Ser) rs41292285 0.00715
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) rs72468681 0.00714
NM_001127222.2(CACNA1A):c.7431C>T (p.Tyr2477=) rs16059 0.00712
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=) rs146902870 0.00702
NM_005666.4(CFHR2):c.253+13C>T rs112814481 0.00696
NM_170665.4(ATP2A2):c.327A>G (p.Glu109=) rs55984131 0.00696
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316 0.00694
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg) rs75295839 0.00687
NM_006267.5(RANBP2):c.2351G>A (p.Arg784Lys) rs2912838 0.00684
NM_016373.4(WWOX):c.754C>G (p.Pro252Ala) rs75559202 0.00684
NM_001243133.2(NLRP3):c.423C>T (p.Tyr141=) rs56710146 0.00680
NM_032444.4(SLX4):c.2924C>T (p.Pro975Leu) rs114472821 0.00679
NM_001005242.3(PKP2):c.174G>T (p.Glu58Asp) rs146708884 0.00677
NM_000219.6(KCNE1):c.84G>A (p.Ser28=) rs17173510 0.00676
NM_001377.3(DYNC2H1):c.10864C>A (p.Arg3622=) rs117178504 0.00672
NM_005529.7(HSPG2):c.7296A>T (p.Ala2432=) rs2229485 0.00669
NM_032119.4(ADGRV1):c.746G>A (p.Arg249Lys) rs41303344 0.00668
NM_007126.5(VCP):c.1082-9G>T rs12349922 0.00667
NM_001267550.2(TTN):c.21044C>T (p.Ala7015Val) rs72648960 0.00666
NM_030787.4(CFHR5):c.429T>C (p.Thr143=) rs140215003 0.00665
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr) rs75316802 0.00658
NM_000064.4(C3):c.1976-19C>T rs11569433 0.00656
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00655
NM_153240.5(NPHP3):c.1887+6G>A rs79113972 0.00654
NM_000170.3(GLDC):c.2203G>T (p.Val735Leu) rs143119940 0.00650
NM_032444.4(SLX4):c.1803G>A (p.Ser601=) rs144892556 0.00649
NM_001845.6(COL4A1):c.1121-18G>A rs139885514 0.00644
NM_003742.4(ABCB11):c.3330G>A (p.Ala1110=) rs113099601 0.00643
NM_002470.4(MYH3):c.3592G>A (p.Ala1198Thr) rs61735358 0.00641
NM_152468.5(TMC8):c.279G>A (p.Gly93=) rs201749146 0.00640
NM_000152.5(GAA):c.852G>A (p.Ala284=) rs142626724 0.00638
NM_032444.4(SLX4):c.1755C>T (p.Pro585=) rs114016359 0.00638
NM_000489.6(ATRX):c.1633C>G (p.Gln545Glu) rs35738915 0.00636
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303 0.00633
NM_153240.5(NPHP3):c.3252A>G (p.Thr1084=) rs11915053 0.00629
NM_001849.4(COL6A2):c.1466G>A (p.Arg489Gln) rs61735828 0.00627
NM_015937.6(PIGT):c.367G>T (p.Val123Leu) rs141420243 0.00626
NM_152384.3(BBS5):c.620G>A (p.Arg207His) rs35487251 0.00625
NM_016233.2(PADI3):c.881C>T (p.Ala294Val) rs144080386 0.00620
NM_003839.4(TNFRSF11A):c.1519G>A (p.Ala507Thr) rs61751992 0.00618
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961 0.00618
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met) rs138407503 0.00618
NM_024753.5(TTC21B):c.1870A>G (p.Ile624Val) rs77106136 0.00617
NM_133642.5(LARGE1):c.1994G>A (p.Arg665His) rs1046166 0.00617
NM_182961.4(SYNE1):c.1964A>G (p.Gln655Arg) rs9397509 0.00615
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463 0.00613
NM_001267550.2(TTN):c.12580A>T (p.Ile4194Phe) rs34618570 0.00613
NM_004369.4(COL6A3):c.4285+9G>A rs75780727 0.00613
NM_000368.5(TSC1):c.2626-3C>T rs1060503192 0.00608
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00604
NM_000070.3(CAPN3):c.984C>T (p.Cys328=) rs28364441 0.00600
NM_015102.5(NPHP4):c.1442-7C>T rs146078470 0.00599
NM_024334.3(TMEM43):c.1096G>A (p.Ala366Thr) rs36083134 0.00599
NM_000498.3(CYP11B2):c.743T>C (p.Ile248Thr) rs4547 0.00598
NM_001018020.2(TPM1):c.*31G>A rs11558748 0.00598
NM_001243133.2(NLRP3):c.1600C>T (p.Leu534=) rs116054301 0.00596
NM_021098.3(CACNA1H):c.5113G>A (p.Ala1705Thr) rs148651456 0.00596
NM_006904.7(PRKDC):c.11805C>T (p.Gly3935=) rs8178249 0.00590
NM_000466.3(PEX1):c.3720C>T (p.His1240=) rs34825053 0.00582
NM_032119.4(ADGRV1):c.2553+11T>A rs73181640 0.00580
NM_000088.4(COL1A1):c.4113G>A (p.Lys1371=) rs41316723 0.00578
NM_000091.5(COL4A3):c.4484A>G (p.Gln1495Arg) rs77964815 0.00573
NM_014908.4(DOLK):c.1dup (p.Met1fs) rs531969689 0.00573
NM_201384.3(PLEC):c.9961G>A (p.Gly3321Arg) rs34132016 0.00569
NM_000051.4(ATM):c.186-7C>T rs55674039 0.00568
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_153252.5(BRWD3):c.2325+5G>A rs186391561 0.00565
NM_001040142.2(SCN2A):c.5326C>T (p.Leu1776=) rs138123155 0.00559
NM_000062.3(SERPING1):c.751C>T (p.Leu251=) rs35788383 0.00558
NM_021098.3(CACNA1H):c.5324-4G>A rs57687113 0.00558
NM_031407.7(HUWE1):c.12573C>G (p.Pro4191=) rs140734968 0.00558
NM_001126108.2(SLC12A3):c.2857-6G>A rs117981500 0.00557
NM_001370466.1(NOD2):c.785A>G (p.Asn262Ser) rs5743271 0.00557
NM_000138.5(FBN1):c.2855-9C>T rs140590 0.00556
NM_001161529.1(CSF2RA):c.491G>A (p.Arg164Gln) rs138964358 0.00550
NM_017882.3(CLN6):c.298-6C>T rs117038427 0.00549
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys) rs2307450 0.00547
NM_020207.7(ERCC6L2):c.3076G>C (p.Val1026Leu) rs149922601 0.00545
NM_004990.4(MARS1):c.2180G>A (p.Arg727Gln) rs113808165 0.00541
NM_001308093.3(GATA4):c.912+25G>A rs147860174 0.00539
NM_001035.3(RYR2):c.14809-15C>G rs790897 0.00538
NM_005359.6(SMAD4):c.*11C>T rs11663402 0.00538
NM_001365088.1(SLC12A6):c.1412G>C (p.Ser471Thr) rs140916001 0.00537
NM_001458.5(FLNC):c.5578C>T (p.Arg1860Cys) rs181067717 0.00536
NM_000439.5(PCSK1):c.397-10T>C rs142423997 0.00535
NM_019594.4(LRRC8A):c.1995G>A (p.Glu665=) rs11999752 0.00533
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr) rs193074572 0.00529
NM_001365951.3(KIF1B):c.2115+6956A>G rs148481786 0.00525
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630 0.00521
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu) rs72553883 0.00518
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_006267.5(RANBP2):c.73-6T>A rs201485597 0.00516
NM_019594.4(LRRC8A):c.1371C>T (p.Pro457=) rs11999256 0.00516
NM_001113491.2(SEPTIN9):c.1573+9C>T rs148975193 0.00515
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890 0.00513
NM_002661.5(PLCG2):c.2094C>T (p.Asp698=) rs143195637 0.00513
NM_000335.5(SCN5A):c.3508+10C>T rs41258454 0.00510
NM_172107.4(KCNQ2):c.1689C>T (p.Asp563=) rs35450031 0.00509
NM_015909.4(NBAS):c.711T>C (p.His237=) rs75347158 0.00508
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser) rs74315394 0.00508
NM_000092.5(COL4A4):c.2907A>C (p.Ser969=) rs116354015 0.00506
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg) rs104895094 0.00506
NM_001366385.1(CARD14):c.2496C>T (p.Leu832=) rs139789664 0.00506
NM_005263.5(GFI1):c.1198C>T (p.Leu400Phe) rs143708376 0.00505
NM_018941.4(CLN8):c.-123-4T>C rs114189810 0.00505
NM_000522.5(HOXA13):c.480G>A (p.Ala160=) rs537218194 0.00504
NM_004369.4(COL6A3):c.1471G>C (p.Asp491His) rs112010940 0.00503
NM_004369.4(COL6A3):c.1475C>G (p.Thr492Ser) rs113897824 0.00503
NM_006267.5(RANBP2):c.7849+4A>G rs2949961 0.00502
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_015158.5(KANK1):c.3553+5G>A rs114914725 0.00501
NM_020376.4(PNPLA2):c.919+4C>T rs148314086 0.00500
NM_174936.4(PCSK9):c.720C>T (p.Gly240=) rs41297883 0.00500
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327 0.00496
NM_032119.4(ADGRV1):c.3482C>G (p.Ser1161Cys) rs147062294 0.00492
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954 0.00491
NM_002661.5(PLCG2):c.1565C>G (p.Pro522Arg) rs72824905 0.00491
NM_003839.4(TNFRSF11A):c.327C>T (p.Pro109=) rs35003467 0.00491
NM_005629.4(SLC6A8):c.1496-5C>T rs200695210 0.00491
NM_005373.3(MPL):c.1565+5C>T rs41269541 0.00488
NM_006267.5(RANBP2):c.7754T>C (p.Ile2585Thr) rs145886643 0.00488
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_003900.5(SQSTM1):c.183C>T (p.Gly61=) rs767340839 0.00487
NM_001040142.2(SCN2A):c.2034A>G (p.Thr678=) rs147891446 0.00486
NM_004006.3(DMD):c.10789C>T (p.Leu3597=) rs1800281 0.00486
NM_006267.5(RANBP2):c.2982A>T (p.Ala994=) rs61748148 0.00486
NM_032119.4(ADGRV1):c.3289G>A (p.Gly1097Ser) rs148097083 0.00484
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846 0.00484
NM_000254.3(MTR):c.3599-18C>T rs116444161 0.00483
NM_004369.4(COL6A3):c.7928C>T (p.Ala2643Val) rs111595697 0.00482
NM_001365951.3(KIF1B):c.4158G>A (p.Ser1386=) rs116302604 0.00481
NM_001371596.2(MFSD8):c.199-8T>C rs112721309 0.00481
NM_000088.4(COL1A1):c.612C>T (p.Pro204=) rs138078016 0.00480
NM_016032.4(ZDHHC9):c.-204+6G>T rs3747339 0.00480
NM_001384732.1(CPLANE1):c.4698A>G (p.Leu1566=) rs143312971 0.00478
NM_080749.4(NEURL2):c.406dup (p.Ser136fs) rs201802475 0.00478
NM_002204.4(ITGA3):c.929C>T (p.Ala310Val) rs61730088 0.00476
NM_006019.4(TCIRG1):c.1515C>T (p.Thr505=) rs34211419 0.00473
NM_001134407.3(GRIN2A):c.3228C>A (p.Asn1076Lys) rs61758995 0.00472
NM_001258392.3(CLPB):c.2026A>G (p.Thr676Ala) rs112524097 0.00471
NM_003923.3(FOXH1):c.338G>C (p.Ser113Thr) rs144830740 0.00471
NM_001378452.1(ITPR1):c.2226G>A (p.Ala742=) rs41289636 0.00470
NM_000188.3(HK1):c.2007G>A (p.Glu669=) rs117797901 0.00468
NM_172201.2(KCNE2):c.25C>G (p.Gln9Glu) rs16991652 0.00468
NM_001127222.2(CACNA1A):c.6342C>G (p.Thr2114=) rs16049 0.00467
NM_032119.4(ADGRV1):c.10936T>C (p.Ser3646Pro) rs13171868 0.00467
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys) rs41288013 0.00466
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu) rs145191932 0.00466
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys) rs115321485 0.00466
NM_000271.5(NPC1):c.2073G>A (p.Pro691=) rs113013085 0.00465
NM_024426.6(WT1):c.1114-9T>C rs5030274 0.00465
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153 0.00463
NM_004082.5(DCTN1):c.586A>G (p.Ile196Val) rs55862001 0.00462
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952 0.00461
NM_004977.3(KCNC3):c.984G>A (p.Pro328=) rs114192110 0.00461
NM_022436.3(ABCG5):c.1864A>G (p.Met622Val) rs140374206 0.00461
NM_004006.3(DMD):c.1997C>T (p.Ser666Leu) rs34563188 0.00460
NM_024915.4(GRHL2):c.1500G>A (p.Thr500=) rs34550163 0.00460
NM_000243.3(MEFV):c.1760-4G>A rs79662406 0.00459
NM_013236.4(ATXN10):c.894+10G>T rs141434930 0.00457
NM_000098.3(CPT2):c.1578T>C (p.Gly526=) rs113493395 0.00455
NM_001025603.2(RFX5):c.1495C>T (p.Pro499Ser) rs2233855 0.00454
NM_004863.4(SPTLC2):c.1664C>T (p.Thr555Met) rs138652708 0.00454
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr) rs41276886 0.00451
NM_006197.4(PCM1):c.2715C>T (p.Asp905=) rs34504407 0.00451
NM_025137.4(SPG11):c.4923G>C (p.Lys1641Asn) rs150218102 0.00449
NM_001083116.3(PRF1):c.96G>A (p.Lys32=) rs2228018 0.00448
NM_001164508.2(NEB):c.18693G>C (p.Ala6231=) rs141338915 0.00448
NM_003183.6(ADAM17):c.148A>G (p.Ile50Val) rs61754178 0.00443
NM_020631.6(PLEKHG5):c.440-6A>G rs202049535 0.00443
NM_030973.4(MED25):c.1004C>T (p.Ala335Val) rs145770066 0.00443
NM_014000.3(VCL):c.1317T>C (p.Ser439=) rs71579355 0.00442
NM_001033855.3(DCLRE1C):c.1893C>T (p.Pro631=) rs41300676 0.00441
NM_001283009.2(RTEL1):c.1548C>T (p.Val516=) rs116057134 0.00441
NM_001723.7(DST):c.5780A>G (p.His1927Arg) rs12209266 0.00441
NM_003193.5(TBCE):c.101-5G>A rs113829976 0.00440
NM_001943.5(DSG2):c.2759T>G (p.Val920Gly) rs142841727 0.00439
NM_000057.4(BLM):c.4076+4T>G rs183176301 0.00436
NM_000088.4(COL1A1):c.4281T>C (p.Ile1427=) rs41316725 0.00431
NM_005689.4(ABCB6):c.1762G>A (p.Gly588Ser) rs145526996 0.00431
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr) rs151117904 0.00431
NM_001127198.5(TMC6):c.1276G>A (p.Gly426Arg) rs61744921 0.00430
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) rs143044921 0.00430
NM_001737.5(C9):c.387A>C (p.Ser129=) rs147450097 0.00427
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886 0.00427
NM_004371.4(COPA):c.2263+7A>G rs116596416 0.00427
NM_201384.3(PLEC):c.4366G>A (p.Val1456Met) rs186848953 0.00427
NM_025074.7(FRAS1):c.8215G>A (p.Ala2739Thr) rs192476468 0.00426
NM_000186.4(CFH):c.2850G>T (p.Gln950His) rs149474608 0.00425
NM_015631.6(TCTN3):c.1030G>A (p.Gly344Arg) rs141088838 0.00423
NM_001039569.2(AP1S3):c.95C>T (p.Thr32Ile) rs78536455 0.00422
NM_000395.3(CSF2RB):c.1119G>A (p.Glu373=) rs144452731 0.00421
NM_001113491.2(SEPTIN9):c.1574-10C>T rs192537441 0.00421
NM_001372051.1(CASP8):c.306-1918T>C rs11897628 0.00421
NM_001569.4(IRAK1):c.1874C>T (p.Thr625Met) rs35638718 0.00421
NM_002470.4(MYH3):c.690C>G (p.Ala230=) rs147148934 0.00421
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00419
NM_001142864.4(PIEZO1):c.2423G>A (p.Arg808Gln) rs202103485 0.00418
NM_015909.4(NBAS):c.3282T>C (p.His1094=) rs139891797 0.00418
NM_001365951.3(KIF1B):c.5250A>G (p.Ala1750=) rs75413741 0.00415
NM_002471.4(MYH6):c.622G>A (p.Asp208Asn) rs142027794 0.00415
NM_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser) rs200970763 0.00414
NM_002471.4(MYH6):c.4651-12A>C rs193922653 0.00413
NM_173689.7(CRB2):c.1428T>G (p.Thr476=) rs142345530 0.00412
NM_001009944.3(PKD1):c.8109C>T (p.Thr2703=) rs149879790 0.00411
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054 0.00411
NM_001377405.1(ATXN7):c.*14C>A rs180696871 0.00411
NM_013266.4(CTNNA3):c.99+11C>T rs115451937 0.00411
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988 0.00410
NM_203447.4(DOCK8):c.3701-17C>T rs376111035 0.00409
NM_007078.3(LDB3):c.352G>A (p.Val118Met) rs35507268 0.00408
NM_024577.4(SH3TC2):c.1403C>T (p.Ala468Val) rs6874630 0.00407
NM_001081.4(CUBN):c.1003G>A (p.Ala335Thr) rs57335729 0.00406
NM_024408.4(NOTCH2):c.435G>A (p.Thr145=) rs1615676 0.00405
NM_002294.3(LAMP2):c.1093+2514G>A rs144140265 0.00404
NM_053025.4(MYLK):c.1516A>G (p.Arg506Gly) rs77323602 0.00404
NM_001710.6(CFB):c.1408+7A>C rs4151656 0.00403
NM_002547.3(OPHN1):c.902C>T (p.Thr301Met) rs138108344 0.00403
NM_005634.3(SOX3):c.157G>C (p.Val53Leu) rs200361128 0.00403
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412 0.00403
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239 0.00399
NM_003705.5(SLC25A12):c.1458G>A (p.Ala486=) rs142179562 0.00399
NM_003954.5(MAP3K14):c.2434-10G>A rs34836788 0.00399
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249 0.00399
NM_014967.5(FAN1):c.1944-4T>C rs200971774 0.00399
NM_080424.4(SP110):c.1464C>T (p.Cys488=) rs147355697 0.00399
NM_015910.7(WDPCP):c.68C>A (p.Pro23Gln) rs141340867 0.00398
NM_018344.6(SLC29A3):c.618C>T (p.Ala206=) rs141413620 0.00398
NM_001163809.2(WDR81):c.4843G>A (p.Gly1615Arg) rs143688446 0.00396
NM_005340.7(HINT1):c.117T>C (p.Leu39=) rs78949626 0.00394
NM_032119.4(ADGRV1):c.10796G>C (p.Gly3599Ala) rs145294917 0.00394
NM_144687.4(NLRP12):c.910C>T (p.His304Tyr) rs141245482 0.00392
NM_001286577.2(C2CD3):c.5082G>T (p.Gln1694His) rs142214951 0.00391
NM_001378452.1(ITPR1):c.1480G>A (p.Val494Ile) rs41289628 0.00391
NM_018389.5(SLC35C1):c.1054C>T (p.Pro352Ser) rs145613857 0.00391
NM_020549.5(CHAT):c.1372C>T (p.Leu458Phe) rs76014951 0.00391
NM_022369.4(STRA6):c.1223G>A (p.Arg408Gln) rs150814749 0.00390
NM_031885.5(BBS2):c.1110T>C (p.Ala370=) rs148990271 0.00389
NM_001009944.3(PKD1):c.9957C>T (p.Ser3319=) rs141101590 0.00388
NM_022041.4(GAN):c.1684C>G (p.Pro562Ala) rs79901179 0.00388
NM_001365536.1(SCN9A):c.1398C>T (p.Ser466=) rs201531206 0.00386
NM_021098.3(CACNA1H):c.4224-6C>T rs72552039 0.00386
NM_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074 0.00385
NM_007074.4(CORO1A):c.804C>T (p.Ser268=) rs149867063 0.00385
NM_000152.5(GAA):c.-32-13T>G rs386834236 0.00384
NM_000285.4(PEPD):c.624+16G>A rs142369843 0.00383
NM_000642.3(AGL):c.3384G>A (p.Ala1128=) rs149393587 0.00383
NM_015909.4(NBAS):c.4659+12C>G rs114354862 0.00382
NM_004387.4(NKX2-5):c.594G>A (p.Gln198=) rs7728764 0.00381
NM_005428.4(VAV1):c.1047G>A (p.Glu349=) rs61750001 0.00381
NM_014231.5(VAMP1):c.*1630C>T rs71584837 0.00380
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu) rs139432601 0.00379
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011 0.00378
NM_015909.4(NBAS):c.4847A>G (p.His1616Arg) rs35295359 0.00378
NM_001130823.3(DNMT1):c.2463C>T (p.Leu821=) rs61750051 0.00377
NM_001267550.2(TTN):c.98242C>T (p.Arg32748Cys) rs72648272 0.00377
NM_017491.5(WDR1):c.182T>C (p.Val61Ala) rs200525851 0.00377
NM_017999.5(RNF31):c.415G>A (p.Glu139Lys) rs45466595 0.00376
NM_000642.3(AGL):c.2883A>G (p.Arg961=) rs113625417 0.00375
NM_024408.4(NOTCH2):c.4238T>A (p.Leu1413His) rs41313282 0.00375
NM_003900.5(SQSTM1):c.984G>A (p.Ser328=) rs146164139 0.00374
NM_015102.5(NPHP4):c.3329C>T (p.Ala1110Val) rs139767853 0.00374
NM_183235.3(RAB27A):c.594G>A (p.Val198=) rs141222527 0.00374
NM_000301.5(PLG):c.1281G>A (p.Arg427=) rs149909079 0.00373
NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp) rs201472270 0.00373
NM_032119.4(ADGRV1):c.4864T>C (p.Tyr1622His) rs111753827 0.00373
NM_001161352.2(KCNMA1):c.3240C>T (p.Asn1080=) rs45586138 0.00372
NM_000271.5(NPC1):c.1947+14_1947+15insC rs201170241 0.00371
NM_000397.4(CYBB):c.1090G>C (p.Gly364Arg) rs141756032 0.00371
NM_001271.4(CHD2):c.2577+7T>C rs146944583 0.00371
NM_001037171.2(ACOT9):c.593A>G (p.His198Arg) rs148179443 0.00370
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser) rs143037290 0.00369
NM_004260.4(RECQL4):c.1704+9C>T rs35876881 0.00365
NM_021102.4(SPINT2):c.592+3A>G rs111990687 0.00365
NM_001005361.3(DNM2):c.2543+7C>G rs201979143 0.00364
NM_001267550.2(TTN):c.66160+16G>A rs149714835 0.00364
NM_001267550.2(TTN):c.72931A>G (p.Thr24311Ala) rs56201325 0.00364
NM_021098.3(CACNA1H):c.3331G>A (p.Gly1111Arg) rs59529743 0.00364
NM_000760.4(CSF3R):c.1319G>A (p.Arg440Gln) rs3918020 0.00363
NM_001999.4(FBN2):c.6511+5G>A rs200608284 0.00363
NM_002225.5(IVD):c.551-18C>T rs142064071 0.00363
NM_014967.5(FAN1):c.718G>A (p.Glu240Lys) rs150748572 0.00363
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536 0.00362
NM_001378454.1(ALMS1):c.1182T>C (p.Tyr394=) rs139512700 0.00361
NM_015662.3(IFT172):c.4540-6C>T rs146140583 0.00361
NM_003977.4(AIP):c.100-18C>T rs202156895 0.00359
NM_004946.3(DOCK2):c.4295+9C>T rs115134653 0.00358
NM_197947.3(CLEC7A):c.547C>T (p.Leu183Phe) rs140318683 0.00358
NM_001365951.3(KIF1B):c.2115+6183T>C rs149241091 0.00357
NM_002047.4(GARS1):c.803C>T (p.Thr268Ile) rs2230310 0.00357
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg) rs148509395 0.00356
NM_003978.5(PSTPIP1):c.1112C>T (p.Thr371Ile) rs34908107 0.00355
NM_199242.3(UNC13D):c.2335G>A (p.Val779Met) rs113861754 0.00355
NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser) rs34302553 0.00354
NM_016343.4(CENPF):c.4182A>G (p.Thr1394=) rs150367049 0.00354
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser) rs25409 0.00354
NM_004260.4(RECQL4):c.543G>A (p.Gln181=) rs34159914 0.00353
NM_012073.5(CCT5):c.1059G>A (p.Leu353=) rs114634318 0.00353
NM_000195.5(HPS1):c.*12C>T rs112544050 0.00352
NM_020778.5(ALPK3):c.158G>A (p.Arg53Gln) rs145993158 0.00351
NM_020822.3(KCNT1):c.2376C>T (p.Asp792=) rs149028586 0.00351
NM_000702.4(ATP1A2):c.2943-15C>T rs111510835 0.00350
NM_001243133.2(NLRP3):c.397+7G>A rs192297357 0.00350
NM_000447.3(PSEN2):c.211C>T (p.Arg71Trp) rs140501902 0.00349
NM_001184.4(ATR):c.6394T>G (p.Tyr2132Asp) rs28910273 0.00349
NM_000631.5(NCF4):c.343-4A>G rs79312013 0.00347
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs) rs534542684 0.00347
NM_005235.3(ERBB4):c.2745C>T (p.Thr915=) rs75536447 0.00347
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659 0.00346
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152 0.00345
NM_000340.2(SLC2A2):c.203C>T (p.Pro68Leu) rs7637863 0.00345
NM_000243.3(MEFV):c.1467G>A (p.Gln489=) rs61732424 0.00341
NM_002661.5(PLCG2):c.1444T>C (p.Tyr482His) rs187956469 0.00341
NM_014981.3(MYH15):c.3361C>T (p.Arg1121Ter) rs61744539 0.00341
NM_003661.4(APOL1):c.851G>A (p.Arg284His) rs150685787 0.00340
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674 0.00340
NM_001018005.2(TPM1):c.*76A>G rs140658011 0.00339
NM_004409.5(DMPK):c.882+8C>T rs141629958 0.00339
NM_000170.3(GLDC):c.678C>T (p.His226=) rs12006003 0.00338
NM_001611.5(ACP5):c.814C>T (p.Arg272Cys) rs147025508 0.00338
NM_000252.3(MTM1):c.136+9C>T rs191553188 0.00337
NM_001003800.2(BICD2):c.2445G>A (p.Pro815=) rs34451610 0.00337
NM_003661.4(APOL1):c.809G>A (p.Gly270Asp) rs73403889 0.00337
NM_001164508.2(NEB):c.5555T>G (p.Met1852Arg) rs144180493 0.00336
NM_001540.5(HSPB1):c.9G>A (p.Glu3=) rs77586767 0.00336
NM_006393.3(NEBL):c.480+3A>G rs71578983 0.00336
NM_006612.6(KIF1C):c.2099C>T (p.Pro700Leu) rs148934699 0.00336
NM_007315.4(STAT1):c.633+6T>A rs45459703 0.00335
NM_000448.3(RAG1):c.2751G>A (p.Gln917=) rs150721661 0.00334
NM_001164508.2(NEB):c.22122C>G (p.Asp7374Glu) rs192402741 0.00334
NM_001199107.2(TBC1D24):c.1500G>A (p.Ala500=) rs201059992 0.00334
NM_018941.4(CLN8):c.777T>C (p.Asn259=) rs34814682 0.00334
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219 0.00333
NM_004484.4(GPC3):c.1285G>A (p.Val429Met) rs11539789 0.00333
NM_007347.5(AP4E1):c.1177-9T>C rs145851652 0.00333
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr) rs72648923 0.00332
NM_147191.1(MMP21):c.1046A>G (p.Glu349Gly) rs28381302 0.00331
NM_000748.3(CHRNB2):c.1233G>A (p.Ala411=) rs55857552 0.00330
NM_015102.5(NPHP4):c.2914A>G (p.Ser972Gly) rs187947581 0.00330
NM_020987.5(ANK3):c.6955G>A (p.Asp2319Asn) rs140463162 0.00330
NM_001009944.3(PKD1):c.11976C>G (p.Ala3992=) rs112387277 0.00329
NM_001283009.2(RTEL1):c.1761G>A (p.Pro587=) rs116900568 0.00329
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_001005373.4(LRSAM1):c.965A>G (p.Gln322Arg) rs56380300 0.00328
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476 0.00327
NM_001148.6(ANK2):c.10861C>G (p.Leu3621Val) rs45570339 0.00327
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187 0.00327
NM_004817.4(TJP2):c.2992-8C>T rs143965233 0.00327
NM_153365.3(TAPT1):c.1565A>G (p.Asn522Ser) rs16893137 0.00327
NM_001080414.4(CCDC88C):c.4287C>T (p.Thr1429=) rs146028766 0.00326
NM_001365276.2(TNXB):c.3445+8A>G rs201624002 0.00326
NM_006306.4(SMC1A):c.855-15C>T rs147791932 0.00326
NM_173689.7(CRB2):c.5C>T (p.Ala2Val) rs201425854 0.00326
NM_000065.5(C6):c.2067C>T (p.Asp689=) rs28651920 0.00325
NM_000458.4(HNF1B):c.1413C>T (p.Pro471=) rs140781855 0.00325
NM_001032221.6(STXBP1):c.247-8A>G rs199827018 0.00325
NM_001099922.3(ALG13):c.2248-4A>G rs370438099 0.00325
NM_207361.6(FREM2):c.8460C>G (p.Ala2820=) rs138775857 0.00325
NM_001009944.3(PKD1):c.4018C>T (p.Arg1340Trp) rs143690392 0.00324
NM_001199107.2(TBC1D24):c.1326C>T (p.Tyr442=) rs184639841 0.00324
NM_001261826.3(AP3D1):c.463-4G>A rs192634153 0.00324
NM_001558.4(IL10RA):c.75G>T (p.Glu25Asp) rs150140303 0.00324
NM_020401.4(NUP107):c.353G>A (p.Arg118His) rs34347775 0.00324
NM_020822.3(KCNT1):c.99A>G (p.Gln33=) rs146152956 0.00323
NM_001165963.4(SCN1A):c.1131A>C (p.Arg377=) rs114137271 0.00322
NM_004525.3(LRP2):c.2933C>T (p.Thr978Met) rs114842875 0.00322
NM_004999.4(MYO6):c.2534C>T (p.Thr845Ile) rs55662069 0.00322
NM_001136191.3(KANK2):c.10G>A (p.Val4Ile) rs139512726 0.00321
NM_001165963.4(SCN1A):c.2889T>C (p.Ala963=) rs144679294 0.00321
NM_001365276.2(TNXB):c.4562C>T (p.Ala1521Val) rs146120469 0.00321
NM_001572.5(IRF7):c.610G>A (p.Asp204Asn) rs41313489 0.00321
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_001365951.3(KIF1B):c.2115+7031T>C rs149267056 0.00320
NM_000022.4(ADA):c.95+9A>G rs765216 0.00319
NM_000574.5(CD55):c.1081+1107C>T rs149088550 0.00319
NM_000878.5(IL2RB):c.235G>A (p.Val79Met) rs149508414 0.00319
NM_001006658.3(CR2):c.2611G>T (p.Val871Leu) rs144572703 0.00319
NM_000310.4(PPT1):c.363-4G>A rs117284255 0.00318
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134 0.00318
NM_021098.3(CACNA1H):c.489G>C (p.Gln163His) rs60593994 0.00318
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278 0.00318
NM_005198.5(CHKB):c.983A>G (p.Gln328Arg) rs141381896 0.00317
NM_000243.3(MEFV):c.910G>A (p.Gly304Arg) rs75977701 0.00316
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile) rs141624266 0.00316
NM_001363.5(DKC1):c.776A>C (p.His259Pro) rs61757608 0.00316
NM_001386298.1(CIC):c.577A>T (p.Thr193Ser) rs547565552 0.00316
NM_014339.7(IL17RA):c.20C>T (p.Pro7Leu) rs143652002 0.00316
NM_032119.4(ADGRV1):c.18273A>G (p.Ala6091=) rs137853918 0.00316
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val) rs41306397 0.00315
NM_001386298.1(CIC):c.1638C>T (p.Pro546=) rs189529121 0.00315
NM_000053.4(ATP7B):c.3557-6C>T rs140708492 0.00314
NM_001378778.1(MPDZ):c.2032A>T (p.Thr678Ser) rs189005767 0.00314
NM_001963.6(EGF):c.2433G>A (p.Val811=) rs149396988 0.00314
NM_004393.6(DAG1):c.258G>C (p.Leu86Phe) rs145403829 0.00314
NM_182961.4(SYNE1):c.2882G>A (p.Arg961Gln) rs76646638 0.00314
NM_000536.4(RAG2):c.22G>A (p.Val8Ile) rs150762709 0.00313
NM_130839.5(UBE3A):c.2618A>G (p.Ter873=) rs76794400 0.00313
NM_001164508.2(NEB):c.4649A>G (p.Lys1550Arg) rs114089598 0.00312
NM_001264.5(CDSN):c.1302C>A (p.Ser434Arg) rs150846158 0.00312
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_002292.4(LAMB2):c.3858G>T (p.Val1286=) rs34967349 0.00312
NM_007078.3(LDB3):c.147G>A (p.Val49=) rs45591834 0.00312
NM_024675.4(PALB2):c.1572A>G (p.Ser524=) rs45472400 0.00312
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr) rs142476821 0.00312
NM_001032221.6(STXBP1):c.325+8C>T rs117372398 0.00310
NM_001848.3(COL6A1):c.1182+3G>A rs62215499 0.00310
NM_020831.6(MRTFA):c.1332G>A (p.Pro444=) rs148478967 0.00310
NM_019066.5(MAGEL2):c.225G>A (p.Pro75=) rs564216035 0.00309
NM_033004.4(NLRP1):c.2605G>A (p.Glu869Lys) rs146505967 0.00309
NM_001089.3(ABCA3):c.4420C>T (p.Arg1474Trp) rs146709251 0.00308
NM_015937.6(PIGT):c.1061C>T (p.Ala354Val) rs146896700 0.00308
NM_017553.3(INO80):c.452A>G (p.Asn151Ser) rs145473172 0.00308
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr) rs61753380 0.00307
NM_001177316.2(SLC34A3):c.1512C>T (p.Phe504=) rs146854507 0.00306
NM_022081.6(HPS4):c.250A>G (p.Ile84Val) rs149830675 0.00306
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser) rs2229194 0.00305
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_001031725.6(DDX59):c.946C>A (p.Leu316Ile) rs147684909 0.00304
NM_001042413.2(GLIS3):c.1545G>C (p.Glu515Asp) rs72687988 0.00304
NM_001374623.1(PNPLA1):c.745G>A (p.Glu249Lys) rs45524833 0.00304
NM_005633.4(SOS1):c.2673+14T>C rs183998234 0.00304
NM_015450.3(POT1):c.903G>T (p.Gln301His) rs116916706 0.00304
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_004484.4(GPC3):c.1167-8T>C rs182950534 0.00303
NM_005689.4(ABCB6):c.575G>A (p.Arg192Gln) rs150221689 0.00303
NM_015909.4(NBAS):c.4913G>A (p.Arg1638His) rs146449593 0.00303
NR_003051.4(RMRP):n.55C>T rs193117694 0.00303
NM_000789.4(ACE):c.3304C>A (p.Pro1102Thr) rs145349565 0.00302
NM_138348.6(OTULIN):c.405G>C (p.Leu135=) rs115519180 0.00302
NM_153026.3(PRICKLE1):c.114G>A (p.Pro38=) rs141743294 0.00302
NM_001122955.4(BSCL2):c.1280T>C (p.Leu427Pro) rs145649423 0.00301
NM_001710.6(CFB):c.1778+9G>A rs188688680 0.00301
NM_000760.4(CSF3R):c.447G>C (p.Glu149Asp) rs139332126 0.00300
NM_000890.5(KCNJ5):c.121C>T (p.Arg41Cys) rs115012103 0.00300
NM_001715.3(BLK):c.713G>A (p.Arg238Gln) rs141865425 0.00300
NM_014043.4(CHMP2B):c.34+8C>T rs35413339 0.00300
NM_001130823.3(DNMT1):c.891+8C>T rs117294281 0.00299
NM_003466.4(PAX8):c.1317A>G (p.Ala439=) rs368201100 0.00299
NM_004655.4(AXIN2):c.1530G>A (p.Thr510=) rs141014640 0.00299
NM_021098.3(CACNA1H):c.2354A>T (p.Lys785Met) rs28365117 0.00299
NM_052989.3(IFT122):c.321A>G (p.Gln107=) rs138793724 0.00299
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245 0.00298
NM_001458.5(FLNC):c.1425C>T (p.Asn475=) rs143610360 0.00297
NM_001458.5(FLNC):c.2078A>C (p.Asp693Ala) rs34972246 0.00297
NM_003193.5(TBCE):c.214C>T (p.Pro72Ser) rs62620041 0.00297
NM_014714.4(IFT140):c.1542C>A (p.Leu514=) rs141542834 0.00297
NM_198576.4(AGRN):c.1993G>A (p.Glu665Lys) rs143324306 0.00297
NM_007126.5(VCP):c.1704A>G (p.Gln568=) rs142577424 0.00296
NM_003664.5(AP3B1):c.2613C>T (p.His871=) rs144420604 0.00295
NM_003954.5(MAP3K14):c.114C>T (p.Ser38=) rs143313926 0.00295
NM_005475.3(SH2B3):c.-28+5G>A rs572454376 0.00295
NM_020964.3(EPG5):c.2063T>C (p.Phe688Ser) rs61978576 0.00295
NM_004187.5(KDM5C):c.1764G>A (p.Gln588=) rs61733871 0.00293
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) rs121908601 0.00293
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn) rs2219594 0.00292
NM_014363.6(SACS):c.3129A>G (p.Ser1043=) rs148878361 0.00292
NM_015102.5(NPHP4):c.3559-19del rs201335783 0.00292
NM_001370466.1(NOD2):c.485C>T (p.Thr162Met) rs61755182 0.00291
NM_001458.5(FLNC):c.8003T>C (p.Met2668Thr) rs200502811 0.00291
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val) rs72552293 0.00291
NM_015909.4(NBAS):c.6932G>A (p.Arg2311His) rs148186764 0.00291
NM_138927.4(SON):c.5754T>C (p.Val1918=) rs150122403 0.00291
NM_001009944.3(PKD1):c.6488G>A (p.Arg2163Gln) rs145217118 0.00290
NM_001077350.3(NPRL3):c.629+9G>C rs142080016 0.00290
NM_004415.4(DSP):c.6208G>A (p.Asp2070Asn) rs41302885 0.00290
NM_006267.5(RANBP2):c.3162G>T (p.Gln1054His) rs141230513 0.00290
NM_006267.5(RANBP2):c.3163C>T (p.Pro1055Ser) rs140860785 0.00290
NM_006662.3(SRCAP):c.3388C>T (p.Pro1130Ser) rs143519723 0.00290
NM_020436.5(SALL4):c.2215G>T (p.Ala739Ser) rs41274696 0.00290
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=) rs35986575 0.00288
NM_001376.5(DYNC1H1):c.11942C>G (p.Thr3981Arg) rs138428684 0.00288
NM_001943.5(DSG2):c.2211C>T (p.Gly737=) rs74578148 0.00288
NM_007078.3(LDB3):c.2016C>T (p.Cys672=) rs45578640 0.00288
NM_015991.4(C1QA):c.525C>T (p.Ile175=) rs149050968 0.00288
NM_000051.4(ATM):c.3993+5G>T rs3092842 0.00287
NM_000660.7(TGFB1):c.348C>T (p.Thr116=) rs56281462 0.00287
NM_001199138.2(NLRC4):c.2357G>T (p.Gly786Val) rs149451729 0.00287
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln) rs72677233 0.00287
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926 0.00287
NM_005045.4(RELN):c.906C>T (p.Ala302=) rs114494558 0.00287
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_173551.5(ANKS6):c.658G>A (p.Ala220Thr) rs200419394 0.00287
NM_000503.6(EYA1):c.840C>A (p.Ile280=) rs55972891 0.00286
NM_000939.4(POMC):c.706C>G (p.Arg236Gly) rs28932472 0.00286
NM_001458.5(FLNC):c.4928-7T>C rs201957008 0.00286
NM_138694.4(PKHD1):c.4920A>G (p.Val1640=) rs142465959 0.00286
NM_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395 0.00286
NM_001943.5(DSG2):c.2886T>G (p.Ile962Met) rs79229040 0.00285
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val) rs142787001 0.00284
NM_001014987.2(LAT):c.318T>C (p.Ser106=) rs140327086 0.00284
NM_001943.5(DSG2):c.2586T>C (p.Ser862=) rs78310842 0.00284
NM_002471.4(MYH6):c.2071G>A (p.Val691Ile) rs148915045 0.00284
NM_018389.5(SLC35C1):c.522C>T (p.Cys174=) rs141379070 0.00284
NM_001035.3(RYR2):c.1218G>A (p.Ser406=) rs147389346 0.00283
NM_001385012.1(NBEA):c.8413G>T (p.Val2805Phe) rs41292207 0.00283
NM_001458.5(FLNC):c.3006G>A (p.Arg1002=) rs61737781 0.00283
NM_021813.4(BACH2):c.15G>A (p.Glu5=) rs45447599 0.00283
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317 0.00282
NM_000271.5(NPC1):c.1071G>A (p.Ser357=) rs61731964 0.00282
NM_000543.5(SMPD1):c.1460C>T (p.Ala487Val) rs141641266 0.00282
NM_000593.6(TAP1):c.1051-3C>T rs56366814 0.00282
NM_001267550.2(TTN):c.94046G>A (p.Arg31349His) rs181104321 0.00282
NM_020312.4(COQ9):c.835G>A (p.Asp279Asn) rs76508383 0.00282
NM_145725.3(TRAF3):c.1509C>T (p.Ser503=) rs138943371 0.00282
NM_014363.6(SACS):c.9846A>G (p.Pro3282=) rs61753111 0.00281
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu) rs112581563 0.00281
NM_001164277.2(SLC37A4):c.593A>T (p.Asn198Ile) rs34203644 0.00280
NM_016373.4(WWOX):c.816G>T (p.Leu272Phe) rs186745328 0.00280
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser) rs112532048 0.00279
NM_020458.4(TTC7A):c.1095G>T (p.Val365=) rs113844968 0.00279
NM_001278512.2(AP3B2):c.3009G>A (p.Lys1003=) rs184007787 0.00278
NM_005334.3(HCFC1):c.4725C>T (p.Pro1575=) rs192386572 0.00278
NM_014994.3(MAPKBP1):c.1156G>A (p.Val386Ile) rs75869993 0.00278
NM_015202.5(KATNIP):c.1303C>T (p.Leu435=) rs147645225 0.00278
NM_144687.4(NLRP12):c.2141A>G (p.Asn714Ser) rs150848917 0.00278
NM_000257.4(MYH7):c.4788G>A (p.Ser1596=) rs146858930 0.00277
NM_001558.4(IL10RA):c.136A>G (p.Thr46Ala) rs112317511 0.00277
NM_015331.3(NCSTN):c.1249A>T (p.Asn417Tyr) rs143039637 0.00277
NM_173689.7(CRB2):c.1236C>T (p.Ile412=) rs55641439 0.00277
NM_000152.5(GAA):c.1552-13G>A rs111261964 0.00276
NM_005263.5(GFI1):c.792C>T (p.Phe264=) rs114487177 0.00276
NM_032415.7(CARD11):c.1630A>C (p.Ile544Leu) rs147687933 0.00276
NM_000257.4(MYH7):c.4452C>T (p.Leu1484=) rs61737803 0.00275
NM_001308093.3(GATA4):c.825C>T (p.Cys275=) rs55980825 0.00275
NM_001365276.2(TNXB):c.12058+15G>A rs762839811 0.00275
NM_182961.4(SYNE1):c.5101G>T (p.Ala1701Ser) rs149758808 0.00275
NM_000969.5(RPL5):c.3+3G>C rs200628272 0.00274
NM_001145252.3(CFP):c.157G>A (p.Val53Met) rs8177068 0.00274
NM_003764.4(STX11):c.546G>A (p.Glu182=) rs146949718 0.00274
NM_003982.4(SLC7A7):c.720A>C (p.Ser240=) rs151261004 0.00274
NM_007315.4(STAT1):c.1347+8T>G rs16833147 0.00274
NM_001370466.1(NOD2):c.1188G>T (p.Val396=) rs77966199 0.00273
NM_020822.3(KCNT1):c.333G>A (p.Ser111=) rs56008253 0.00273
NM_000059.4(BRCA2):c.67+82C>G rs189026060 0.00272
NM_000065.5(C6):c.2518G>A (p.Gly840Ser) rs142836385 0.00272
NM_000246.4(CIITA):c.2448C>T (p.Ala816=) rs112250421 0.00272
NM_000540.3(RYR1):c.8376G>A (p.Arg2792=) rs150388417 0.00272
NM_001031725.6(DDX59):c.148G>C (p.Ala50Pro) rs150913822 0.00272
NM_001031725.6(DDX59):c.251G>C (p.Ser84Thr) rs146060105 0.00272
NM_001184880.2(PCDH19):c.1683G>A (p.Pro561=) rs192354176 0.00272
NM_003480.4(MFAP5):c.6G>A (p.Ser2=) rs4132450 0.00272
NM_006267.5(RANBP2):c.8407A>G (p.Ile2803Val) rs61758804 0.00272
NM_007315.4(STAT1):c.990G>A (p.Gln330=) rs41509946 0.00272
NM_144596.4(TTC8):c.284A>G (p.Lys95Arg) rs150880478 0.00272
NM_000186.4(CFH):c.428-14T>C rs184188486 0.00271
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg) rs45550635 0.00271
NM_004184.4(WARS1):c.25C>G (p.Leu9Val) rs143974221 0.00271
NM_006363.6(SEC23B):c.1512T>C (p.Asn504=) rs138198461 0.00271
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_032119.4(ADGRV1):c.6317C>T (p.Ala2106Val) rs186999408 0.00271
NM_000278.5(PAX2):c.360C>T (p.Ala120=) rs41291450 0.00270
NM_001378373.1(MBL2):c.187+5G>A rs192251459 0.00270
NM_002206.3(ITGA7):c.2569G>A (p.Gly857Ser) rs149081471 0.00270
NM_003047.5(SLC9A1):c.1356C>T (p.Ile452=) rs35607809 0.00270
NM_017864.4(INTS8):c.2766T>C (p.His922=) rs34558403 0.00270
NM_024426.6(WT1):c.181C>A (p.Arg61=) rs2234581 0.00270
NM_032119.4(ADGRV1):c.17856+11G>A rs187039736 0.00270
NM_212482.4(FN1):c.1070G>A (p.Gly357Glu) rs140926439 0.00270
NM_000186.4(CFH):c.3150T>C (p.Asn1050=) rs113347629 0.00269
NM_000213.5(ITGB4):c.4008C>T (p.Asp1336=) rs61735288 0.00269
NM_005263.5(GFI1):c.319C>G (p.Pro107Ala) rs149914857 0.00269
NM_014391.3(ANKRD1):c.319G>T (p.Val107Leu) rs114435632 0.00269
NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met) rs61757691 0.00269
NM_025074.7(FRAS1):c.4648C>T (p.Leu1550Phe) rs148663672 0.00269
NM_182919.4(TICAM1):c.1702G>A (p.Ala568Thr) rs143679494 0.00269
NM_000218.3(KCNQ1):c.-5T>C rs532941548 0.00267
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=) rs3729821 0.00267
NM_000335.5(SCN5A):c.486C>T (p.Tyr162=) rs45489099 0.00267
NM_001023570.4(IQCB1):c.588T>C (p.Ser196=) rs80015876 0.00267
NM_001365999.1(SZT2):c.6573C>T (p.Asp2191=) rs114046098 0.00267
NM_001127198.5(TMC6):c.1536-4G>A rs117553598 0.00265
NM_007074.4(CORO1A):c.1097C>A (p.Pro366His) rs150857828 0.00265
NM_014639.4(SKIC3):c.4344A>G (p.Leu1448=) rs139074002 0.00264
NM_000744.7(CHRNA4):c.1352C>T (p.Pro451Leu) rs55915440 0.00262
NM_001191061.2(SLC25A22):c.705T>C (p.Ala235=) rs142861804 0.00262
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala) rs77968867 0.00262
NM_001378454.1(ALMS1):c.2658A>G (p.Lys886=) rs80133984 0.00262
NM_003466.4(PAX8):c.1189+15G>A rs149585280 0.00262
NM_004958.4(MTOR):c.985G>A (p.Ala329Thr) rs35903812 0.00262
NM_005199.5(CHRNG):c.125G>A (p.Arg42Gln) rs148468628 0.00262
NM_198525.3(KIF7):c.2192-13C>T rs201251064 0.00262
NM_001122681.2(SH3BP2):c.1429C>T (p.Arg477Trp) rs148761331 0.00261
NM_001164508.2(NEB):c.13081G>A (p.Glu4361Lys) rs202017360 0.00261
NM_001379286.1(ZNF423):c.3393C>T (p.Pro1131=) rs61755180 0.00261
NM_012452.3(TNFRSF13B):c.215G>A (p.Arg72His) rs55916807 0.00261
NM_030578.4(B9D2):c.195C>T (p.Phe65=) rs34088631 0.00261
NM_000341.4(SLC3A1):c.231T>A (p.Ser77=) rs146630359 0.00260
NM_006947.4(SRP72):c.58C>T (p.Arg20Trp) rs111673705 0.00260
NM_000431.4(MVK):c.238G>A (p.Val80Ile) rs76914224 0.00259
NM_002693.3(POLG):c.948G>A (p.Lys316=) rs61756401 0.00259
NM_004463.3(FGD1):c.676G>A (p.Ala226Thr) rs138723423 0.00259
NM_013372.7(GREM1):c.103C>G (p.Pro35Ala) rs111262341 0.00259
NM_017662.5(TRPM6):c.633T>C (p.Gly211=) rs144221623 0.00259
NM_001077350.3(NPRL3):c.1024G>T (p.Val342Leu) rs11558704 0.00258
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=) rs72646890 0.00258
NM_004958.4(MTOR):c.6624T>C (p.Leu2208=) rs56051835 0.00258
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689 0.00258
NM_024408.4(NOTCH2):c.3625T>G (p.Phe1209Val) rs147223770 0.00258
NM_133379.5(TTN):c.16160G>A (p.Cys5387Tyr) rs72648913 0.00258
NM_198252.3(GSN):c.597C>T (p.Asn199=) rs146329975 0.00258
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125 0.00257
NM_002474.3(MYH11):c.5691C>T (p.Asn1897=) rs149566621 0.00257
NM_004409.5(DMPK):c.161-459C>T rs199935282 0.00257
NM_138694.4(PKHD1):c.1950G>A (p.Arg650=) rs143226202 0.00257
NM_001128164.2(ATXN1):c.556A>T (p.Ser186Cys) rs112175378 0.00256
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg) rs117844037 0.00256
NM_014804.3(KIAA0753):c.1545+10C>T rs147784976 0.00255
NM_001035.3(RYR2):c.13983C>T (p.Tyr4661=) rs138498780 0.00254
NM_005529.7(HSPG2):c.12982G>A (p.Ala4328Thr) rs114015043 0.00254
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=) rs41310953 0.00253
NM_001267550.2(TTN):c.98294C>G (p.Ala32765Gly) rs72648273 0.00253
NM_005765.3(ATP6AP2):c.189C>T (p.Leu63=) rs150392503 0.00253
NM_014141.6(CNTNAP2):c.1220A>G (p.Asn407Ser) rs143877693 0.00253
NM_022168.4(IFIH1):c.2105C>T (p.Thr702Ile) rs72650663 0.00253
NM_025074.7(FRAS1):c.4579C>T (p.Arg1527Trp) rs1872267 0.00253
NM_000152.5(GAA):c.2481+16G>A rs41292408 0.00252
NM_001458.5(FLNC):c.4737+15A>G rs182734223 0.00252
NM_002972.4(SBF1):c.898-18G>A rs369814596 0.00252
NM_005548.3(KARS1):c.1674C>T (p.Leu558=) rs143267922 0.00252
NM_001130823.3(DNMT1):c.4428T>G (p.His1476Gln) rs142647321 0.00251
NM_014915.3(ANKRD26):c.2332G>C (p.Glu778Gln) rs139949439 0.00251
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
NM_003042.4(SLC6A1):c.1243C>A (p.Leu415Ile) rs112095333 0.00250
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly) rs112089123 0.00250
NM_015202.5(KATNIP):c.2175T>C (p.Pro725=) rs146330054 0.00250
NM_017739.4(POMGNT1):c.301G>A (p.Val101Ile) rs150576537 0.00250
NM_024496.4(IRF2BPL):c.636C>T (p.Asn212=) rs145413239 0.00250
NM_030787.4(CFHR5):c.732C>T (p.Asn244=) rs41306229 0.00250
NM_177550.5(SLC13A5):c.426G>A (p.Thr142=) rs72836208 0.00250
NM_003665.4(FCN3):c.750C>T (p.His250=) rs28385652 0.00249
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=) rs143916832 0.00249
NM_016356.5(DCDC2):c.855A>G (p.Ser285=) rs141519329 0.00249
NM_000276.4(OCRL):c.439+3A>G rs61752971 0.00248
NM_000338.3(SLC12A1):c.2067G>A (p.Gly689=) rs35783293 0.00248
NM_003673.4(TCAP):c.*76G>T rs45506294 0.00248
NM_005629.4(SLC6A8):c.813C>T (p.Val271=) rs138064933 0.00248
NM_000505.4(F12):c.418C>G (p.Leu140Val) rs35515200 0.00247
NM_000718.4(CACNA1B):c.4473+17G>A rs80100052 0.00247
NM_001098671.2(RASGRP2):c.1466C>G (p.Ser489Cys) rs140514685 0.00247
NM_001099922.3(ALG13):c.2898T>C (p.Tyr966=) rs368002375 0.00247
NM_001379081.2(FREM1):c.6528C>T (p.Ser2176=) rs144454947 0.00247
NM_002972.4(SBF1):c.4833C>T (p.Asn1611=) rs199573140 0.00247
NM_021813.4(BACH2):c.1244G>A (p.Gly415Glu) rs149898769 0.00247
NM_000540.3(RYR1):c.4443C>T (p.Asn1481=) rs141317474 0.00246
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly) rs139326669 0.00246
NM_003467.3(CXCR4):c.783C>T (p.Ile261=) rs148279552 0.00246
NM_004260.4(RECQL4):c.1390+3G>A rs148912524 0.00246
NM_004525.3(LRP2):c.2079C>T (p.Phe693=) rs145709922 0.00246
NM_015650.4(TRAF3IP1):c.1199A>C (p.Asp400Ala) rs61756349 0.00246
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780 0.00245
NM_001365088.1(SLC12A6):c.3042+8A>G rs186141509 0.00245
NM_001378454.1(ALMS1):c.9822C>G (p.Thr3274=) rs201446579 0.00245
NM_005908.4(MANBA):c.2136G>A (p.Ser712=) rs149687835 0.00245
NM_032119.4(ADGRV1):c.3295A>G (p.Thr1099Ala) rs61754947 0.00245
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617 0.00244
NM_000875.5(IGF1R):c.2782+17G>A rs186895929 0.00244
NM_173689.7(CRB2):c.1464G>A (p.Leu488=) rs145392563 0.00244
NM_000204.5(CFI):c.1322A>G (p.Lys441Arg) rs41278047 0.00243
NM_000211.5(ITGB2):c.147+9C>T rs199948899 0.00243
NM_000611.6(CD59):c.18G>A (p.Gly6=) rs111771149 0.00243
NM_001081.4(CUBN):c.1470G>A (p.Pro490=) rs143255616 0.00243
NM_001267550.2(TTN):c.61922G>A (p.Arg20641Gln) rs199895260 0.00243
NM_001711.6(BGN):c.357C>T (p.Leu119=) rs146322407 0.00243
NM_005529.7(HSPG2):c.10677C>T (p.Asn3559=) rs138049720 0.00243
NM_000065.5(C6):c.2381+2T>C rs76202909 0.00242
NM_002292.4(LAMB2):c.109C>G (p.Pro37Ala) rs144765752 0.00242
NM_005619.5(RTN2):c.1168G>A (p.Gly390Ser) rs143937661 0.00242
NM_005918.4(MDH2):c.982A>C (p.Lys328Gln) rs144919730 0.00242
NM_152564.5(VPS13B):c.11392+8G>A rs147921058 0.00242
NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser) rs149547196 0.00241
NM_000137.4(FAH):c.1259G>A (p.Ter420=) rs61747586 0.00241
NM_001394998.1(TANC2):c.3549C>T (p.Ser1183=) rs138962211 0.00241
NM_005876.5(SPEG):c.6076C>G (p.Arg2026Gly) rs531879999 0.00240
NM_014000.3(VCL):c.1907A>G (p.His636Arg) rs71579374 0.00240
NM_018896.5(CACNA1G):c.1925-10C>T rs139447235 0.00240
NM_020366.4(RPGRIP1):c.2284C>T (p.Leu762=) rs145896974 0.00240
NM_001379110.1(SLC9A6):c.1460+4A>G rs180727016 0.00239
NM_003839.4(TNFRSF11A):c.1348C>T (p.Arg450Trp) rs34945627 0.00239
NM_004990.4(MARS1):c.2204+11G>A rs202080192 0.00239
NM_018344.6(SLC29A3):c.1146C>T (p.Phe382=) rs148092033 0.00239
NM_021813.4(BACH2):c.2103A>G (p.Glu701=) rs116588681 0.00238
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys) rs1800386 0.00237
NM_001009944.3(PKD1):c.9795C>T (p.Ser3265=) rs150949575 0.00237
NM_001023570.4(IQCB1):c.1549A>T (p.Asn517Tyr) rs139468837 0.00237
NM_001164508.2(NEB):c.18653G>A (p.Gly6218Asp) rs34471889 0.00237
NM_001291303.3(FAT4):c.10390A>G (p.Ile3464Val) rs147872710 0.00237
NM_001365276.2(TNXB):c.9612C>T (p.Asp3204=) rs61746872 0.00237
NM_002661.5(PLCG2):c.714C>T (p.Ala238=) rs138981519 0.00237
NM_003664.5(AP3B1):c.1040+9T>A rs201876461 0.00237
NM_021098.3(CACNA1H):c.6418G>A (p.Ala2140Thr) rs59487037 0.00237
NM_182961.4(SYNE1):c.18185C>T (p.Ser6062Leu) rs139790539 0.00237
NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser) rs551521196 0.00237
NM_000059.4(BRCA2):c.8953+98T>C rs81002901 0.00236
NM_000426.4(LAMA2):c.4959+6G>T rs148060790 0.00236
NM_001065.4(TNFRSF1A):c.1110C>T (p.Arg370=) rs201683984 0.00236
NM_001569.4(IRAK1):c.1104C>T (p.Ala368=) rs11556424 0.00236
NM_001605.3(AARS1):c.1672-4T>A rs187509039 0.00236
NM_005186.4(CAPN1):c.1781T>C (p.Val594Ala) rs148743672 0.00236
NM_014141.6(CNTNAP2):c.681C>T (p.His227=) rs142984073 0.00236
NM_000254.3(MTR):c.3079C>T (p.Arg1027Trp) rs116836001 0.00235
NM_002292.4(LAMB2):c.2307C>T (p.Leu769=) rs147076626 0.00235
NM_003982.4(SLC7A7):c.1380C>G (p.Ile460Met) rs139415285 0.00235
NM_053025.4(MYLK):c.3242A>G (p.His1081Arg) rs113491038 0.00235
NM_001385012.1(NBEA):c.282G>A (p.Thr94=) rs201561325 0.00234
NM_005535.3(IL12RB1):c.1098G>A (p.Thr366=) rs61734350 0.00234
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=) rs537723089 0.00233
NM_007294.4(BRCA1):c.114G>A (p.Lys38=) rs1800062 0.00233
NM_015602.4(TOR1AIP1):c.70C>G (p.Pro24Ala) rs146976883 0.00233
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly) rs149804567 0.00233
NM_000334.4(SCN4A):c.355G>A (p.Val119Ile) rs41280110 0.00232
NM_001037.5(SCN1B):c.267C>T (p.Arg89=) rs140949982 0.00232
NM_001308093.3(GATA4):c.462C>T (p.Phe154=) rs56348550 0.00232
NM_002471.4(MYH6):c.1275C>T (p.Ile425=) rs61742470 0.00232
NM_003978.5(PSTPIP1):c.543G>A (p.Lys181=) rs375950478 0.00232
NM_005045.4(RELN):c.4408G>A (p.Val1470Ile) rs143213152 0.00232
NM_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=) rs61749163 0.00231
NM_001382391.1(CSPP1):c.3165T>C (p.Asp1055=) rs10112748 0.00231
NM_002473.6(MYH9):c.7C>G (p.Gln3Glu) rs56200894 0.00231
NM_020774.4(MIB1):c.843A>T (p.Thr281=) rs137957940 0.00231
NM_001303256.3(MORC2):c.63A>G (p.Thr21=) rs73156742 0.00230
NM_138694.4(PKHD1):c.2853C>T (p.Thr951=) rs139815340 0.00230
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231 0.00229
NM_003265.3(TLR3):c.634-10C>A rs113654222 0.00229
NM_004260.4(RECQL4):c.2463+6C>T rs35029361 0.00229
NM_018344.6(SLC29A3):c.128T>G (p.Leu43Arg) rs146764905 0.00229
NM_020247.5(COQ8A):c.948C>T (p.Leu316=) rs55637780 0.00229
NM_000092.5(COL4A4):c.4217-15T>C rs200926310 0.00228
NM_000285.4(PEPD):c.1098C>T (p.His366=) rs149579451 0.00228
NM_001366385.1(CARD14):c.1065C>T (p.Cys355=) rs140246774 0.00228
NM_006118.4(HAX1):c.207A>T (p.Pro69=) rs142150013 0.00228
NM_032119.4(ADGRV1):c.7582C>T (p.Pro2528Ser) rs201733037 0.00228
NM_000053.4(ATP7B):c.2955C>T (p.Cys985=) rs116587608 0.00227
NM_000448.3(RAG1):c.2571C>T (p.Ala857=) rs141560248 0.00227
NM_001037.5(SCN1B):c.448+193G>A rs66876876 0.00227
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00227
NM_001282225.2(ADA2):c.1045G>A (p.Val349Ile) rs74317375 0.00227
NM_001379081.2(FREM1):c.2796C>T (p.Arg932=) rs138176565 0.00227
NM_014339.7(IL17RA):c.1530C>T (p.Asp510=) rs148319877 0.00227
NM_000395.3(CSF2RB):c.2526G>A (p.Pro842=) rs75527703 0.00226
NM_000722.4(CACNA2D1):c.2126G>A (p.Ser709Asn) rs78086631 0.00226
NM_001009944.3(PKD1):c.3316C>G (p.Leu1106Val) rs141625744 0.00226
NM_004946.3(DOCK2):c.90G>C (p.Gln30His) rs141894939 0.00226
NM_201384.3(PLEC):c.12642C>T (p.Ile4214=) rs111227648 0.00226
NM_001374736.1(DST):c.2256A>T (p.Ser752=) rs113432929 0.00225
NM_003151.4(STAT4):c.1476T>C (p.Ser492=) rs138191914 0.00225
NM_005120.3(MED12):c.384A>G (p.Gln128=) rs201566660 0.00225
NM_000211.5(ITGB2):c.1635C>T (p.Asn545=) rs61747606 0.00224
NM_000379.4(XDH):c.2634T>C (p.Ile878=) rs146994573 0.00224
NM_001371596.2(MFSD8):c.66A>T (p.Glu22Asp) rs145529594 0.00224
NM_003978.5(PSTPIP1):c.786C>T (p.Asp262=) rs35860563 0.00224
NM_025193.4(HSD3B7):c.357C>T (p.Thr119=) rs117645456 0.00224
NM_032564.5(DGAT2):c.890G>A (p.Arg297Gln) rs140793537 0.00224
NM_148919.4(PSMB8):c.501C>T (p.Leu167=) rs11540143 0.00224
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776 0.00223
NM_004990.4(MARS1):c.280-14C>T rs183195960 0.00223
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp) rs201620358 0.00223
NM_138694.4(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255 0.00223
NM_152703.5(SAMD9L):c.1503A>G (p.Arg501=) rs75446743 0.00223
NM_000091.5(COL4A3):c.987+20C>G rs141425127 0.00222
NM_000379.4(XDH):c.3536T>C (p.Ile1179Thr) rs139515054 0.00222
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481 0.00222
NM_004984.4(KIF5A):c.1293+9G>A rs201749114 0.00222
NM_007046.4(EMILIN1):c.2576-8C>A rs150596062 0.00222
NM_025132.4(WDR19):c.1915A>G (p.Ser639Gly) rs150649460 0.00222
NM_001270508.2(TNFAIP3):c.2175G>A (p.Leu725=) rs140354477 0.00221
NM_017553.3(INO80):c.57C>T (p.Pro19=) rs144276063 0.00221
NM_203447.4(DOCK8):c.6201A>G (p.Glu2067=) rs145573166 0.00221
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862 0.00220
NM_001033855.3(DCLRE1C):c.1284A>C (p.Lys428Asn) rs113870881 0.00220
NM_003661.4(APOL1):c.573C>T (p.Leu191=) rs150846072 0.00220
NM_019842.4(KCNQ5):c.972A>G (p.Gly324=) rs138701359 0.00220
NM_152618.3(BBS12):c.212A>G (p.Asn71Ser) rs143960329 0.00220
NM_153460.4(IL17RC):c.161T>C (p.Val54Ala) rs138985119 0.00220
NM_000186.4(CFH):c.3207T>C (p.Ser1069=) rs62641697 0.00219
NM_000282.4(PCCA):c.1236A>G (p.Pro412=) rs41281120 0.00219
NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=) rs76337075 0.00219
NM_032608.7(MYO18B):c.2377-4G>A rs200030443 0.00219
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys) rs181347577 0.00218
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_000243.3(MEFV):c.329T>C (p.Leu110Pro) rs11466018 0.00217
NM_001113491.2(SEPTIN9):c.201C>T (p.Gly67=) rs61744333 0.00217
NM_001130438.3(SPTAN1):c.1303T>G (p.Ser435Ala) rs144787939 0.00217
NM_001136219.3(FCGR2A):c.210C>T (p.Ser70=) rs148868087 0.00217
NM_004463.3(FGD1):c.2268C>T (p.Cys756=) rs61734178 0.00217
NM_007289.4(MME):c.855+6A>T rs41267907 0.00217
NM_019109.5(ALG1):c.1222C>T (p.Leu408=) rs149319732 0.00217
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_001127255.2(NLRP7):c.574A>C (p.Met192Leu) rs104895529 0.00216
NM_001267550.2(TTN):c.65092C>T (p.Arg21698Cys) rs72646861 0.00216
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met) rs7196804 0.00216
NM_000522.5(HOXA13):c.1002A>G (p.Leu334=) rs35608915 0.00215
NM_001103.4(ACTN2):c.1341C>T (p.Phe447=) rs34785693 0.00215
NM_001267550.2(TTN):c.36347A>G (p.Glu12116Gly) rs200513156 0.00215
NM_001378452.1(ITPR1):c.5265C>T (p.Asn1755=) rs61757111 0.00215
NM_002029.4(FPR1):c.26C>T (p.Thr9Met) rs148095693 0.00215
NM_006070.6(TFG):c.415+16A>G rs201290760 0.00215
NM_014140.4(SMARCAL1):c.1271A>T (p.Asp424Val) rs2066520 0.00215
NM_020822.3(KCNT1):c.2235C>T (p.Ser745=) rs146810749 0.00215
NM_001244008.2(KIF1A):c.3345C>G (p.Ala1115=) rs370286749 0.00214
NM_001267550.2(TTN):c.34505G>T (p.Gly11502Val) rs190209925 0.00214
NM_002547.3(OPHN1):c.2056C>T (p.Pro686Ser) rs139691746 0.00214
NM_000213.5(ITGB4):c.3861C>T (p.Asn1287=) rs145351926 0.00213
NM_000466.3(PEX1):c.473-3C>T rs150576000 0.00213
NM_001377265.1(MAPT):c.2091+29G>A rs63751443 0.00213
NM_006393.3(NEBL):c.109T>C (p.Leu37=) rs140734883 0.00213
NM_000334.4(SCN4A):c.1100+7G>A rs200770684 0.00212
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) rs41275239 0.00212
NM_020433.5(JPH2):c.1794C>A (p.Ser598=) rs369883442 0.00212
NM_020708.5(SLC12A5):c.96C>T (p.Thr32=) rs143969641 0.00212
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356 0.00212
NM_001244008.2(KIF1A):c.3888C>T (p.Arg1296=) rs144520412 0.00211
NM_013236.4(ATXN10):c.1053C>T (p.Phe351=) rs41279801 0.00211
NM_015967.8(PTPN22):c.1108C>A (p.His370Asn) rs72650671 0.00211
NM_133379.5(TTN):c.11849T>C (p.Ile3950Thr) rs72647897 0.00211
NM_000085.5(CLCNKB):c.171G>A (p.Gly57=) rs150723240 0.00210
NM_001323289.2(CDKL5):c.1332C>T (p.Arg444=) rs150844616 0.00210
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637 0.00210
NM_006393.3(NEBL):c.604G>A (p.Gly202Arg) rs137973321 0.00210
NM_006949.4(STXBP2):c.1538+10C>T rs139200597 0.00210
NM_000391.4(TPP1):c.293C>T (p.Thr98Met) rs140726254 0.00209
NM_001267550.2(TTN):c.54208A>C (p.Arg18070=) rs138240658 0.00209
NM_013322.3(SNX10):c.25-5T>C rs184384013 0.00209
NM_020297.4(ABCC9):c.3768T>C (p.Leu1256=) rs150303433 0.00209
NM_000170.3(GLDC):c.1156-7C>G rs150095531 0.00208
NM_000431.4(MVK):c.381G>A (p.Pro127=) rs140397628 0.00208
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_001148.6(ANK2):c.6648C>G (p.Gly2216=) rs140926982 0.00208
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met) rs78592085 0.00208
NM_001267550.2(TTN):c.73168A>G (p.Thr24390Ala) rs182491843 0.00208
NM_002471.4(MYH6):c.3979-7dup rs545343612 0.00208
NM_000243.3(MEFV):c.1459G>C (p.Val487Leu) rs104895100 0.00207
NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr) rs139872140 0.00207
NM_014314.4(RIGI):c.1059C>T (p.Asn353=) rs45471397 0.00207
NM_198253.3(TERT):c.3105C>T (p.Val1035=) rs181612536 0.00207
NM_000383.4(AIRE):c.1566+8C>T rs72650680 0.00206
NM_001267550.2(TTN):c.31399G>A (p.Val10467Ile) rs72650019 0.00206
NM_001267550.2(TTN):c.87707-4G>T rs201770959 0.00206
NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys) rs147232392 0.00206
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836 0.00206
NM_015474.4(SAMHD1):c.237T>C (p.Pro79=) rs7271776 0.00206
NM_000346.4(SOX9):c.685+8G>A rs117696751 0.00205
NM_001035.3(RYR2):c.2760G>A (p.Glu920=) rs186181155 0.00205
NM_001202.6(BMP4):c.76T>C (p.Leu26=) rs74486266 0.00205
NM_001267550.2(TTN):c.9077A>T (p.Asn3026Ile) rs11900987 0.00205
NM_002972.4(SBF1):c.5625C>T (p.Asp1875=) rs146489206 0.00205
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995 0.00205
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
NM_001191061.2(SLC25A22):c.169G>A (p.Val57Ile) rs150242281 0.00204
NM_006267.5(RANBP2):c.4760G>T (p.Gly1587Val) rs148677577 0.00204
NM_006612.6(KIF1C):c.3071G>A (p.Arg1024Gln) rs141225452 0.00204
NM_001267550.2(TTN):c.91937A>G (p.Asn30646Ser) rs72648245 0.00203
NM_004260.4(RECQL4):c.2817G>A (p.Ala939=) rs202045203 0.00203
NM_016373.4(WWOX):c.1197G>A (p.Ala399=) rs376935572 0.00203
NM_138927.4(SON):c.3326C>T (p.Ala1109Val) rs144188863 0.00203
NM_003647.3(DGKE):c.129G>A (p.Gln43=) rs139071284 0.00202
NM_032119.4(ADGRV1):c.14943G>C (p.Gln4981His) rs200153555 0.00202
NM_033118.4(MYLK2):c.284C>A (p.Ala95Glu) rs121908108 0.00202
NM_000211.5(ITGB2):c.162G>A (p.Pro54=) rs138303556 0.00201
NM_002163.4(IRF8):c.724T>C (p.Tyr242His) rs142267779 0.00201
NM_002204.4(ITGA3):c.1420G>A (p.Val474Met) rs61730081 0.00201
NM_007074.4(CORO1A):c.738G>A (p.Gln246=) rs143729497 0.00201
NM_014956.5(CEP164):c.2772C>G (p.Leu924=) rs117473319 0.00201
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys) rs121918007 0.00200
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser) rs146616621 0.00200
NM_003611.3(OFD1):c.517+20T>C rs139112266 0.00200
NM_017864.4(INTS8):c.873A>G (p.Leu291=) rs77629237 0.00200
NM_203446.3(SYNJ1):c.3590C>T (p.Thr1197Met) rs145937537 0.00200
NM_000117.3(EMD):c.399+18C>T rs182540760 0.00199
NM_000722.4(CACNA2D1):c.1983G>A (p.Ser661=) rs75158917 0.00199
NM_001042413.2(GLIS3):c.893C>A (p.Ser298Tyr) rs148572278 0.00199
NM_133379.5(TTN):c.10917C>T (p.Gly3639=) rs140804168 0.00199
NM_182914.3(SYNE2):c.18039-5T>A rs189611387 0.00199
NM_001378120.1(MBD5):c.2030G>A (p.Ser677Asn) rs114314967 0.00198
NM_002473.6(MYH9):c.5143G>A (p.Gly1715Ser) rs148109368 0.00198
NM_004958.4(MTOR):c.663C>G (p.Thr221=) rs112439072 0.00198
NM_012448.4(STAT5B):c.375+17G>A rs148509105 0.00198
NM_001267550.2(TTN):c.37247C>T (p.Ser12416Leu) rs370765948 0.00197
NM_001365999.1(SZT2):c.4898C>T (p.Ser1633Leu) rs138762270 0.00197
NM_001963.6(EGF):c.1602G>A (p.Lys534=) rs140682556 0.00197
NM_004415.4(DSP):c.4383G>A (p.Glu1461=) rs140029036 0.00197
NM_024426.6(WT1):c.309C>A (p.Gly103=) rs547333427 0.00197
NM_001127255.2(NLRP7):c.2094C>T (p.His698=) rs104895524 0.00196
NM_001329943.3(KIAA0586):c.4519G>A (p.Ala1507Thr) rs140026883 0.00196
NM_203447.4(DOCK8):c.380G>A (p.Arg127His) rs150742426 0.00196
NM_203447.4(DOCK8):c.4024-4C>T rs111306749 0.00196
NM_000051.4(ATM):c.8269-14A>T rs114320959 0.00195
NM_000379.4(XDH):c.882C>T (p.Pro294=) rs138246330 0.00195
NM_001267550.2(TTN):c.67099T>C (p.Ser22367Pro) rs72646873 0.00195
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001 0.00195
NM_002473.6(MYH9):c.4396C>T (p.Arg1466Trp) rs139134727 0.00195
NM_004415.4(DSP):c.1488G>A (p.Thr496=) rs35820473 0.00195
NM_004525.3(LRP2):c.12380G>A (p.Arg4127His) rs142934522 0.00195
NM_005529.7(HSPG2):c.4627-3del rs368983547 0.00195
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=) rs61742381 0.00195
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373 0.00194
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=) rs142381345 0.00194
NM_024422.6(DSC2):c.2616C>T (p.Cys872=) rs61731920 0.00194
NM_153717.3(EVC):c.550G>A (p.Asp184Asn) rs41269549 0.00194
NM_207361.6(FREM2):c.84C>G (p.Pro28=) rs141718695 0.00194
NM_000760.4(CSF3R):c.108C>T (p.Val36=) rs3918011 0.00193
NM_001012339.3(DNAJC21):c.316-8T>G rs182094106 0.00193
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006 0.00193
NM_015937.6(PIGT):c.675T>C (p.Val225=) rs147475258 0.00193
NM_019888.3(MC3R):c.658C>A (p.Arg220Ser) rs61735259 0.00193
NM_182914.3(SYNE2):c.19964A>T (p.Gln6655Leu) rs149978500 0.00193
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_015158.5(KANK1):c.3609G>A (p.Ala1203=) rs114625699 0.00192
NM_032119.4(ADGRV1):c.12527+6G>T rs141701016 0.00192
NM_000392.5(ABCC2):c.159A>G (p.Lys53=) rs17222596 0.00191
NM_001330078.2(NRXN1):c.4473G>A (p.Ala1491=) rs113380721 0.00191
NM_005670.4(EPM2A):c.719-4G>A rs145030227 0.00191
NM_058246.4(DNAJB6):c.279C>T (p.Phe93=) rs149278319 0.00191
NM_000204.5(CFI):c.1443C>T (p.Val481=) rs114091883 0.00190
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=) rs151013014 0.00190
NM_000551.4(VHL):c.340+5G>C rs61758376 0.00190
NM_003647.3(DGKE):c.1679A>G (p.Gln560Arg) rs61751972 0.00190
NM_022786.3(ARV1):c.64A>T (p.Thr22Ser) rs143532693 0.00190
NM_001005242.3(PKP2):c.706G>T (p.Ala236Ser) rs62001015 0.00189
NM_001110792.2(MECP2):c.618C>T (p.Ser206=) rs61749711 0.00189
NM_001267550.2(TTN):c.5823A>G (p.Arg1941=) rs149668487 0.00189
NM_001270508.2(TNFAIP3):c.1939A>C (p.Thr647Pro) rs142253225 0.00189
NM_001360.3(DHCR7):c.321+10C>T rs377108406 0.00189
NM_022436.3(ABCG5):c.1567A>G (p.Ile523Val) rs140899003 0.00189
NM_152617.4(RNF168):c.1278C>T (p.Thr426=) rs115264746 0.00189
NM_000383.4(AIRE):c.1065C>T (p.Pro355=) rs201551372 0.00188
NM_001127222.2(CACNA1A):c.4632C>T (p.Thr1544=) rs150378053 0.00188
NM_001267550.2(TTN):c.18659G>C (p.Cys6220Ser) rs191692293 0.00188
NM_002972.4(SBF1):c.2079C>T (p.His693=) rs199672732 0.00188
NM_005529.7(HSPG2):c.1238G>A (p.Arg413Gln) rs140621959 0.00188
NM_024426.6(WT1):c.123G>C (p.Pro41=) rs555140661 0.00188
NM_080424.4(SP110):c.584-10C>G rs148591984 0.00188
NM_152296.5(ATP1A3):c.154-5C>G rs191645384 0.00188
NM_182746.3(MCM4):c.961C>T (p.Arg321Cys) rs142732823 0.00188
NM_000722.4(CACNA2D1):c.2837-7A>G rs112176710 0.00187
NM_032119.4(ADGRV1):c.7874G>A (p.Arg2625His) rs201214794 0.00187
NM_000166.6(GJB1):c.235C>T (p.Leu79=) rs144717157 0.00186
NM_000572.3(IL10):c.43G>A (p.Gly15Arg) rs145922845 0.00186
NM_001382347.1(MYO5A):c.5234+12C>T rs113067572 0.00185
NM_001556.3(IKBKB):c.1702A>C (p.Arg568=) rs151057347 0.00185
NM_001963.6(EGF):c.1723G>A (p.Gly575Arg) rs115396821 0.00185
NM_004415.4(DSP):c.1206G>A (p.Lys402=) rs150422458 0.00185
NM_005060.4(RORC):c.990C>T (p.Tyr330=) rs61754474 0.00185
NM_006929.5(SKIC2):c.1705G>A (p.Val569Met) rs144147284 0.00185
NM_014339.7(IL17RA):c.1689C>T (p.Gly563=) rs146292661 0.00185
NM_153834.4(ADGRG4):c.4639T>A (p.Cys1547Ser) rs143353057 0.00185
NM_000091.5(COL4A3):c.3566-9T>C rs147886850 0.00184
NM_000301.5(PLG):c.1259G>A (p.Gly420Asp) rs139071351 0.00184
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451 0.00184
NM_001329943.3(KIAA0586):c.698G>A (p.Arg233Lys) rs193056942 0.00184
NM_003611.3(OFD1):c.1654+8A>G rs200767363 0.00184
NM_021625.5(TRPV4):c.2498A>G (p.Asn833Ser) rs116035946 0.00184
NM_000208.4(INSR):c.1080C>T (p.Cys360=) rs56066516 0.00183
NM_000350.3(ABCA4):c.2588-12C>G rs61751396 0.00183
NM_000587.4(C7):c.1341G>A (p.Glu447=) rs150696042 0.00183
NM_005918.4(MDH2):c.480G>A (p.Val160=) rs139959689 0.00183
NM_006279.5(ST3GAL3):c.618C>T (p.Arg206=) rs115003742 0.00183
NM_006306.4(SMC1A):c.3450C>T (p.Ala1150=) rs142611198 0.00183
NM_016599.5(MYOZ2):c.76+20G>A rs113920336 0.00183
NM_020655.4(JPH3):c.406G>A (p.Gly136Ser) rs149647215 0.00183
NM_030930.4(UNC93B1):c.239-6C>T rs182093266 0.00183
NM_203446.3(SYNJ1):c.3369A>G (p.Pro1123=) rs368850131 0.00183
NM_000093.5(COL5A1):c.4230+5C>T rs142248898 0.00182
NM_001009944.3(PKD1):c.8713G>A (p.Val2905Ile) rs147788838 0.00182
NM_001130823.3(DNMT1):c.150C>T (p.His50=) rs146112081 0.00182
NM_001145252.3(CFP):c.895G>A (p.Asp299Asn) rs61737993 0.00182
NM_001378969.1(KCND3):c.627G>C (p.Thr209=) rs149299911 0.00182
NM_002335.4(LRP5):c.4380C>T (p.Ser1460=) rs11574420 0.00182
NM_003664.5(AP3B1):c.1069A>G (p.Ile357Val) rs142025324 0.00182
NM_020822.3(KCNT1):c.3383C>T (p.Ala1128Val) rs143704418 0.00182
NM_001128178.3(NPHP1):c.1270-4C>T rs151204566 0.00181
NM_001366385.1(CARD14):c.2569+4T>C rs146678380 0.00181
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708 0.00181
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu) rs139029314 0.00181
NM_000170.3(GLDC):c.1927-9A>G rs41281773 0.00180
NM_001130438.3(SPTAN1):c.3720-5T>G rs200543425 0.00180
NM_001365536.1(SCN9A):c.1997A>G (p.Lys666Arg) rs121908919 0.00180
NM_001605.3(AARS1):c.2459A>G (p.Lys820Arg) rs147319762 0.00180
NM_020738.4(KIDINS220):c.3586-7T>C rs139887022 0.00180
NM_020812.4(DOCK6):c.3517C>T (p.Arg1173Trp) rs145081732 0.00180
NM_033118.4(MYLK2):c.1458T>C (p.Asp486=) rs111888319 0.00180
NM_001395656.1(ROBO2):c.1956T>C (p.Thr652=) rs61731263 0.00179
NM_003000.3(SDHB):c.423+20T>A rs190139590 0.00179
NM_006231.4(POLE):c.2561+6T>C rs116231808 0.00179
NM_182643.3(DLC1):c.3856-6G>A rs200102232 0.00179
NM_001256545.2(MEGF10):c.1564G>A (p.Gly522Arg) rs140563851 0.00178
NM_001379286.1(ZNF423):c.312C>T (p.Asp104=) rs117266679 0.00178
NM_013266.4(CTNNA3):c.1195C>A (p.Leu399Ile) rs115276158 0.00178
NM_013266.4(CTNNA3):c.429T>C (p.Asp143=) rs111880127 0.00178
NM_015713.5(RRM2B):c.48+265C>G rs550765773 0.00178
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=) rs2234473 0.00178
NM_033004.4(NLRP1):c.3784-4G>A rs146498193 0.00178
NM_130849.4(SLC39A4):c.504G>A (p.Glu168=) rs138825974 0.00178
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_182961.4(SYNE1):c.25856T>C (p.Leu8619Pro) rs139834542 0.00178
NM_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys) rs149146258 0.00178
NM_198253.3(TERT):c.2517G>A (p.Thr839=) rs140124989 0.00178
NM_001267550.2(TTN):c.29963-13A>G rs72650008 0.00177
NM_014425.5(INVS):c.3017-5T>G rs201018893 0.00177
NM_020458.4(TTC7A):c.2211G>A (p.Ala737=) rs142959785 0.00177
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln) rs112185887 0.00176
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys) rs75762896 0.00176
NM_000383.4(AIRE):c.63C>T (p.Ala21=) rs371796437 0.00176
NM_001283009.2(RTEL1):c.2444G>T (p.Ser815Ile) rs150461578 0.00176
NM_000173.7(GP1BA):c.206C>T (p.Pro69Leu) rs138825640 0.00175
NM_000301.5(PLG):c.1878-6T>C rs192519670 0.00175
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr) rs121912691 0.00175
NM_000443.4(ABCB4):c.1893+6T>C rs8187798 0.00175
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=) rs148108322 0.00175
NM_001080414.4(CCDC88C):c.6027G>A (p.Pro2009=) rs200979954 0.00175
NM_001244008.2(KIF1A):c.2958G>C (p.Val986=) rs186881889 0.00175
NM_001710.6(CFB):c.1143C>T (p.Arg381=) rs150920440 0.00175
NM_002591.4(PCK1):c.413C>T (p.Thr138Ile) rs28359542 0.00175
NM_004281.4(BAG3):c.25A>G (p.Met9Val) rs137965903 0.00175
NM_004821.3(HAND1):c.247G>T (p.Gly83Trp) rs201302313 0.00175
NM_004944.4(DNASE1L3):c.543G>A (p.Ala181=) rs61730077 0.00175
NM_021245.4(MYOZ1):c.253-20T>C rs188206000 0.00175
NM_033118.4(MYLK2):c.508G>A (p.Glu170Lys) rs145656924 0.00175
NM_152468.5(TMC8):c.1571C>T (p.Pro524Leu) rs144120533 0.00175
NM_001365536.1(SCN9A):c.3832C>G (p.Leu1278Val) rs180922748 0.00174
NM_001715.3(BLK):c.711C>T (p.Pro237=) rs143699141 0.00174
NM_147686.4(TRAF3IP2):c.1184A>G (p.Asn395Ser) rs139767840 0.00174
NM_177438.3(DICER1):c.3972G>A (p.Lys1324=) rs45562437 0.00174
NM_001037.5(SCN1B):c.448+321G>A rs72558028 0.00173
NM_001943.5(DSG2):c.1652-12C>T rs140850369 0.00173
NM_020754.4(ARHGAP31):c.349-7T>G rs200397968 0.00173
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918 0.00172
NM_000532.5(PCCB):c.49C>A (p.Leu17Met) rs200185747 0.00172
NM_001377.3(DYNC2H1):c.6478-17C>T rs61899765 0.00172
NM_002471.4(MYH6):c.2928+5G>A rs28730772 0.00172
NM_014639.4(SKIC3):c.1848A>G (p.Thr616=) rs145518834 0.00172
NM_000044.6(AR):c.636G>A (p.Arg212=) rs150226204 0.00171
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202 0.00171
NM_001365536.1(SCN9A):c.4314C>T (p.Val1438=) rs188336294 0.00171
NM_021098.3(CACNA1H):c.6195C>T (p.Ala2065=) rs375589233 0.00171
NM_001006658.3(CR2):c.2352T>C (p.Ile784=) rs142319454 0.00170
NM_001378183.1(PIEZO2):c.6013G>A (p.Asp2005Asn) rs199842060 0.00170
NM_004738.5(VAPB):c.510G>A (p.Met170Ile) rs143144050 0.00170
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 0.00170
NM_148960.3(CLDN19):c.626+75C>G rs199656937 0.00170
NM_001077365.2(POMT1):c.1499G>A (p.Arg500Lys) rs117985576 0.00169
NM_001113491.2(SEPTIN9):c.1752G>A (p.Pro584=) rs367775215 0.00169
NM_001199397.3(NEK1):c.3411G>A (p.Leu1137=) rs56077602 0.00169
NM_005419.4(STAT2):c.759C>T (p.His253=) rs147605088 0.00169
NM_016156.6(MTMR2):c.1855T>C (p.Ser619Pro) rs116750638 0.00169
NM_017882.3(CLN6):c.923G>C (p.Ser308Thr) rs143578698 0.00169
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr) rs114925667 0.00169
NM_000026.4(ADSL):c.1010+18A>G rs201019280 0.00168
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346 0.00168
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_001366722.1(GRIP1):c.2283G>A (p.Ser761=) rs200863167 0.00168
NM_001378452.1(ITPR1):c.3461A>G (p.Asp1154Gly) rs61751570 0.00168
NM_006929.5(SKIC2):c.3666G>A (p.Leu1222=) rs142860816 0.00168
NM_153460.4(IL17RC):c.1768A>G (p.Ser590Gly) rs141404925 0.00168
NM_000836.4(GRIN2D):c.2271C>T (p.Ile757=) rs144676582 0.00167
NM_001242896.3(DEPDC5):c.814G>A (p.Val272Ile) rs187334123 0.00167
NM_001384732.1(CPLANE1):c.8790C>T (p.Ser2930=) rs148005445 0.00167
NM_002292.4(LAMB2):c.510C>T (p.Arg170=) rs149856537 0.00167
NM_053025.4(MYLK):c.399G>T (p.Gln133His) rs140148380 0.00167
NM_000384.3(APOB):c.9105T>C (p.Asn3035=) rs147510760 0.00166
NM_001040142.2(SCN2A):c.3453C>T (p.Pro1151=) rs145662546 0.00166
NM_001099922.3(ALG13):c.2617G>C (p.Ala873Pro) rs142841538 0.00166
NM_001379110.1(SLC9A6):c.1637G>A (p.Arg546Gln) rs146263125 0.00166
NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln) rs72659383 0.00166
NM_005419.4(STAT2):c.285+5T>C rs79264292 0.00166
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950 0.00165
NM_006172.4(NPPA):c.190A>C (p.Ser64Arg) rs61757261 0.00165
NM_025132.4(WDR19):c.2361C>T (p.Phe787=) rs200133722 0.00165
NM_177438.3(DICER1):c.20A>G (p.Gln7Arg) rs117358479 0.00165
NM_000448.3(RAG1):c.725A>G (p.Gln242Arg) rs76897604 0.00164
NM_002661.5(PLCG2):c.987G>A (p.Thr329=) rs200506549 0.00164
NM_003978.5(PSTPIP1):c.1143C>T (p.Ser381=) rs141227274 0.00164
NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671 0.00164
NM_000044.6(AR):c.1174C>T (p.Pro392Ser) rs201934623 0.00163
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879 0.00163
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092 0.00163
NM_001037.5(SCN1B):c.448+29C>T rs186759145 0.00163
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006 0.00163
NM_001144967.3(NEDD4L):c.2613C>T (p.Asn871=) rs141136641 0.00163
NM_001349253.2(SCN11A):c.2213C>T (p.Pro738Leu) rs140995438 0.00163
NM_001382567.1(STIM1):c.1664C>T (p.Ser555Phe) rs141215990 0.00163
NM_001482.3(GATM):c.669T>C (p.Tyr223=) rs151231277 0.00163
NM_006397.3(RNASEH2A):c.339G>T (p.Leu113=) rs145176499 0.00163
NM_014476.6(PDLIM3):c.60C>A (p.Gly20=) rs113792127 0.00163
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val) rs142403318 0.00162
NM_001009944.3(PKD1):c.6297G>T (p.Gly2099=) rs137925121 0.00162
NM_001143992.2(WRAP53):c.1566G>A (p.Ala522=) rs148329158 0.00162
NM_005448.2(BMP15):c.581T>C (p.Phe194Ser) rs141218518 0.00162
NM_015909.4(NBAS):c.3928A>G (p.Thr1310Ala) rs35489395 0.00162
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln) rs151272083 0.00162
NM_199242.3(UNC13D):c.2341G>A (p.Val781Ile) rs149871493 0.00162
NM_001370298.3(FGD4):c.666A>T (p.Ala222=) rs139357821 0.00161
NM_004946.3(DOCK2):c.4201G>T (p.Ala1401Ser) rs143100569 0.00161
NM_006509.4(RELB):c.1563C>T (p.Ala521=) rs199742203 0.00161
NM_000718.4(CACNA1B):c.6095C>G (p.Thr2032Ser) rs201940970 0.00160
NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val) rs184018403 0.00160
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_003200.5(TCF3):c.315G>A (p.Arg105=) rs144176765 0.00160
NM_005548.3(KARS1):c.1178G>A (p.Arg393Gln) rs149772470 0.00160
NM_006904.7(PRKDC):c.3315G>T (p.Val1105=) rs56047668 0.00160
NM_018979.4(WNK1):c.1074C>T (p.Thr358=) rs72648621 0.00160
NM_001081.4(CUBN):c.4200C>T (p.Gly1400=) rs150663813 0.00159
NM_004260.4(RECQL4):c.615C>G (p.Pro205=) rs35639991 0.00159
NM_020822.3(KCNT1):c.3239G>T (p.Gly1080Val) rs200250181 0.00159
NM_152743.4(BRAT1):c.2208G>T (p.Leu736=) rs61753093 0.00159
NM_173689.7(CRB2):c.3128C>T (p.Ser1043Phe) rs35578485 0.00159
NM_000383.4(AIRE):c.1567-5C>T rs192215705 0.00158
NM_000497.4(CYP11B1):c.1014G>A (p.Gln338=) rs151335623 0.00158
NM_001365276.2(TNXB):c.2030A>G (p.Asp677Gly) rs141190850 0.00158
NM_018668.5(VPS33B):c.1166G>A (p.Arg389Gln) rs145070485 0.00158
NM_152468.5(TMC8):c.1364G>A (p.Arg455Gln) rs151076155 0.00158
NM_170707.4(LMNA):c.1851C>T (p.Ala617=) rs143189394 0.00158
NM_001001548.3(CD36):c.1150del (p.Ala384fs) rs551607784 0.00157
NM_018979.4(WNK1):c.6150T>C (p.Leu2050=) rs151331381 0.00157
NM_152424.4(AMER1):c.2651C>T (p.Pro884Leu) rs201092215 0.00157
NM_000238.4(KCNH2):c.1129-18C>T rs78794789 0.00156
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897 0.00156
NM_001077350.3(NPRL3):c.447C>T (p.Ile149=) rs367592989 0.00156
NM_001110556.2(FLNA):c.1429+8C>T rs202181557 0.00156
NM_001142864.4(PIEZO1):c.5728G>A (p.Glu1910Lys) rs200929552 0.00156
NM_001282225.2(ADA2):c.927G>A (p.Met309Ile) rs146597836 0.00156
NM_002473.6(MYH9):c.5818G>A (p.Gly1940Arg) rs140588099 0.00156
NM_002838.5(PTPRC):c.3670G>A (p.Val1224Ile) rs150672767 0.00156
NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln) rs115961753 0.00156
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_015272.5(RPGRIP1L):c.2153-4G>C rs201380599 0.00156
NM_015910.7(WDPCP):c.176T>A (p.Ile59Asn) rs202196322 0.00156
NM_017864.4(INTS8):c.2031A>G (p.Thr677=) rs138818665 0.00156
NM_022098.4(XPNPEP3):c.590-8A>G rs143719656 0.00156
NM_053025.4(MYLK):c.4289-4C>G rs376670657 0.00156
NM_000336.3(SCNN1B):c.1545C>T (p.Ile515=) rs61759916 0.00155
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=) rs145762491 0.00155
NM_001330078.2(NRXN1):c.1575A>G (p.Arg525=) rs201941844 0.00155
NM_001366722.1(GRIP1):c.2381T>G (p.Met794Arg) rs144494437 0.00155
NM_016341.4(PLCE1):c.2076A>T (p.Thr692=) rs147203844 0.00155
NM_017654.4(SAMD9):c.4102G>A (p.Glu1368Lys) rs138600971 0.00155
NM_130849.4(SLC39A4):c.595T>C (p.Leu199=) rs141199511 0.00155
NM_172245.4(CSF2RA):c.279A>G (p.Thr93=) rs140581875 0.00155
NM_177965.4(CFAP418):c.528A>G (p.Thr176=) rs143748636 0.00155
NM_001003787.4(STRADA):c.135G>A (p.Ala45=) rs56163554 0.00154
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln) rs121918817 0.00154
NM_001848.3(COL6A1):c.2635A>G (p.Ser879Gly) rs140534207 0.00154
NM_003200.5(TCF3):c.750G>A (p.Pro250=) rs201703361 0.00154
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter) rs147622517 0.00154
NM_032588.4(TRIM63):c.375C>T (p.His125=) rs144196126 0.00154
NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=) rs118187988 0.00154
NM_000204.5(CFI):c.782G>A (p.Gly261Asp) rs112534524 0.00153
NM_000302.4(PLOD1):c.77-3358C>T rs534978828 0.00153
NM_001035.3(RYR2):c.4596+12G>A rs148557427 0.00153
NM_001127222.2(CACNA1A):c.1614C>T (p.Tyr538=) rs182505786 0.00153
NM_001130823.3(DNMT1):c.2117+13G>A rs112660071 0.00153
NM_001498.4(GCLC):c.1039G>A (p.Asp347Asn) rs80120302 0.00153
NM_001540.5(HSPB1):c.178C>T (p.Pro60Ser) rs61751217 0.00153
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala) rs142992009 0.00153
NM_003665.4(FCN3):c.232+1G>A rs141300199 0.00153
NM_014476.6(PDLIM3):c.993C>A (p.Gly331=) rs139493914 0.00153
NM_025137.4(SPG11):c.4744-6T>C rs147550048 0.00153
NM_000377.3(WAS):c.1378C>T (p.Pro460Ser) rs143885622 0.00152
NM_000618.5(IGF1):c.207G>A (p.Arg69=) rs147960415 0.00152
NM_000744.7(CHRNA4):c.1460G>A (p.Arg487Gln) rs121912280 0.00152
NM_001032221.6(STXBP1):c.1548C>T (p.Ser516=) rs145304925 0.00152
NM_001374736.1(DST):c.2350C>G (p.Pro784Ala) rs151271595 0.00152
NM_005591.4(MRE11):c.822T>C (p.Leu274=) rs137868143 0.00152
NM_017780.4(CHD7):c.7278G>A (p.Gln2426=) rs187311127 0.00152
NM_001101426.4(CRPPA):c.1059G>A (p.Lys353=) rs181099904 0.00151
NM_001267550.2(TTN):c.98267C>T (p.Thr32756Ile) rs199805060 0.00151
NM_001458.5(FLNC):c.2389+12C>T rs370526829 0.00151
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=) rs145798966 0.00150
NM_001009944.3(PKD1):c.10325C>T (p.Ala3442Val) rs144593342 0.00150
NM_001355436.2(SPTB):c.5651C>T (p.Ala1884Val) rs148337824 0.00150
NM_001365951.3(KIF1B):c.4596C>T (p.Pro1532=) rs147066476 0.00150
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013 0.00150
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=) rs142639688 0.00150
NM_198525.3(KIF7):c.3514C>A (p.Arg1172=) rs138196132 0.00150
NM_201384.3(PLEC):c.3543C>T (p.Val1181=) rs202185399 0.00150
NM_001005361.3(DNM2):c.1902C>T (p.Asn634=) rs2229919 0.00149
NM_001386125.1(OBSCN):c.23303C>A (p.Pro7768His) rs201092597 0.00149
NM_005477.3(HCN4):c.458A>G (p.Glu153Gly) rs560874115 0.00149
NM_031892.3(SH3KBP1):c.162+36464C>G rs138422588 0.00149
NM_152424.4(AMER1):c.401A>C (p.His134Pro) rs146489129 0.00149
NM_000393.5(COL5A2):c.1618-19C>G rs189970491 0.00148
NM_000726.5(CACNB4):c.1413G>A (p.Arg471=) rs1805029 0.00148
NM_001005242.3(PKP2):c.2353G>A (p.Asp785Asn) rs151264959 0.00148
NM_001358263.1(HK1):c.75+16T>C rs372162023 0.00148
NM_153033.5(KCTD7):c.384G>A (p.Glu128=) rs145238250 0.00148
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala) rs28940579 0.00147
NM_000301.5(PLG):c.1962G>T (p.Val654=) rs4252196 0.00147
NM_000606.3(C8G):c.586G>A (p.Val196Ile) rs150744928 0.00147
NM_001366722.1(GRIP1):c.1756A>C (p.Ile586Leu) rs189438534 0.00147
NM_003665.4(FCN3):c.266-7T>C rs28385723 0.00147
NM_004706.4(ARHGEF1):c.2506C>G (p.Gln836Glu) rs45580632 0.00147
NM_015346.4(ZFYVE26):c.677G>A (p.Arg226His) rs147919567 0.00147
NM_213720.3(CHCHD10):c.41+7G>A rs141526972 0.00147
NM_001267550.2(TTN):c.73336C>T (p.Leu24446=) rs189768015 0.00146
NM_002582.4(PARN):c.1741G>A (p.Gly581Arg) rs75007073 0.00146
NM_002591.4(PCK1):c.1642G>A (p.Ala548Thr) rs148684857 0.00146
NM_002693.3(POLG):c.1890C>T (p.Asn630=) rs148658588 0.00146
NM_007074.4(CORO1A):c.1189G>A (p.Val397Ile) rs35967690 0.00146
NM_032119.4(ADGRV1):c.11378-20G>A rs190125624 0.00146
NM_152296.5(ATP1A3):c.1943+12A>T rs201197776 0.00146
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr) rs200037070 0.00145
NM_001164508.2(NEB):c.22878C>A (p.Ala7626=) rs185574478 0.00145
NM_001267550.2(TTN):c.10104T>G (p.Val3368=) rs142460433 0.00145
NM_001330078.2(NRXN1):c.501C>G (p.Leu167=) rs200248561 0.00145
NM_001365999.1(SZT2):c.9723G>A (p.Ala3241=) rs146635122 0.00145
NM_002471.4(MYH6):c.3927T>C (p.Ser1309=) rs115742584 0.00145
NM_005957.5(MTHFR):c.1761C>T (p.Ala587=) rs115049252 0.00145
NM_006766.5(KAT6A):c.4952C>T (p.Pro1651Leu) rs144417514 0.00145
NM_022436.3(ABCG5):c.696C>T (p.Val232=) rs72796720 0.00145
NM_024496.4(IRF2BPL):c.2203A>T (p.Ser735Cys) rs141239534 0.00145
NM_138694.4(PKHD1):c.6854G>A (p.Gly2285Glu) rs142526715 0.00145
NM_001009944.3(PKD1):c.2235C>G (p.Ala745=) rs533569454 0.00144
NM_001283009.2(RTEL1):c.1605G>A (p.Glu535=) rs114292675 0.00144
NM_003737.4(DCHS1):c.2975G>A (p.Gly992Glu) rs145749053 0.00144
NM_198253.3(TERT):c.1574-16G>C rs79698601 0.00144
NM_001378452.1(ITPR1):c.3207C>T (p.Thr1069=) rs186541002 0.00143
NM_001848.3(COL6A1):c.105C>G (p.Pro35=) rs145579577 0.00143
NM_024809.5(TCTN2):c.615C>T (p.Gly205=) rs147485641 0.00143
NM_031483.7(ITCH):c.2271C>T (p.Ile757=) rs56366303 0.00143
NM_032634.4(PIGO):c.2166G>C (p.Ala722=) rs147101825 0.00143
NM_033118.4(MYLK2):c.4G>A (p.Ala2Thr) rs117502839 0.00143
NM_000064.4(C3):c.2901C>T (p.Leu967=) rs34029609 0.00142
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805 0.00142
NM_003737.4(DCHS1):c.1493G>A (p.Arg498Gln) rs150834672 0.00142
NM_005585.5(SMAD6):c.79A>G (p.Ser27Gly) rs374058045 0.00142
NM_005751.5(AKAP9):c.6037G>A (p.Glu2013Lys) rs61757671 0.00142
NM_031407.7(HUWE1):c.5091A>G (p.Gly1697=) rs149893977 0.00142
NM_032802.4(SPPL2A):c.1554C>G (p.Val518=) rs146593203 0.00142
NM_153240.5(NPHP3):c.449C>T (p.Ala150Val) rs142663818 0.00142
NM_001127255.2(NLRP7):c.2095G>A (p.Val699Ile) rs77072552 0.00141
NM_001267550.2(TTN):c.32593G>C (p.Val10865Leu) rs150733188 0.00141
NM_001267550.2(TTN):c.61029T>C (p.Phe20343=) rs6706088 0.00141
NM_001267550.2(TTN):c.65747G>A (p.Arg21916Gln) rs148849567 0.00141
NM_001385012.1(NBEA):c.7746G>A (p.Pro2582=) rs146396146 0.00141
NM_001711.6(BGN):c.111C>T (p.Asn37=) rs145819764 0.00141
NM_002471.4(MYH6):c.5400C>T (p.Asp1800=) rs144329079 0.00141
NM_004281.4(BAG3):c.549C>G (p.Ser183=) rs112929734 0.00141
NM_007118.4(TRIO):c.34G>A (p.Ala12Thr) rs1045136451 0.00141
NM_014254.3(RXYLT1):c.252C>T (p.Ser84=) rs141095352 0.00141
NM_015967.8(PTPN22):c.197-4A>G rs72650669 0.00141
NM_024408.4(NOTCH2):c.6223G>A (p.Val2075Met) rs150516342 0.00141
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_144596.4(TTC8):c.1077C>T (p.Asn359=) rs150896551 0.00141
NM_173689.7(CRB2):c.3204C>T (p.Asp1068=) rs377347664 0.00141
NM_000431.4(MVK):c.924C>T (p.Leu308=) rs72648042 0.00140
NM_000540.3(RYR1):c.2919C>T (p.His973=) rs139363830 0.00140
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325 0.00140
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642 0.00140
NM_001291303.3(FAT4):c.10107A>G (p.Glu3369=) rs147646369 0.00140
NM_001723.7(DST):c.7135G>A (p.Ala2379Thr) rs140192373 0.00140
NM_004958.4(MTOR):c.1830C>T (p.Phe610=) rs139687094 0.00140
NM_006096.4(NDRG1):c.31G>A (p.Ala11Thr) rs145871479 0.00140
NM_017882.3(CLN6):c.214G>C (p.Glu72Gln) rs104894483 0.00140
NM_020366.4(RPGRIP1):c.95T>A (p.Met32Lys) rs200510462 0.00140
NM_020822.3(KCNT1):c.435-17G>A rs140115987 0.00140
NM_032119.4(ADGRV1):c.10260C>T (p.Phe3420=) rs113938044 0.00140
NM_080911.3(UNG):c.246G>C (p.Leu82=) rs144083363 0.00140
NM_138694.4(PKHD1):c.11338C>T (p.Pro3780Ser) rs41273722 0.00140
NM_152296.5(ATP1A3):c.816G>A (p.Thr272=) rs149898088 0.00140
NM_181523.3(PIK3R1):c.687G>A (p.Ser229=) rs34175949 0.00140
NM_000536.4(RAG2):c.1095T>C (p.Ser365=) rs140519815 0.00139
NM_005223.4(DNASE1):c.567C>T (p.Gly189=) rs8175352 0.00139
NM_012079.6(DGAT1):c.1407C>T (p.Val469=) rs17851331 0.00139
NM_000043.6(FAS):c.580G>A (p.Glu194Lys) rs56006128 0.00138
NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu) rs55816687 0.00138
NM_001165963.4(SCN1A):c.68C>T (p.Ala23Val) rs139397227 0.00138
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019 0.00138
NM_145046.5(CALR3):c.848C>T (p.Thr283Ile) rs75099211 0.00138
NM_000051.4(ATM):c.998C>T (p.Ser333Phe) rs28904919 0.00137
NM_000379.4(XDH):c.1868C>T (p.Thr623Ile) rs45448694 0.00137
NM_001013838.3(CARMIL2):c.2286C>T (p.Ala762=) rs201745158 0.00137
NM_001191061.2(SLC25A22):c.570C>T (p.Leu190=) rs145322467 0.00137
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927 0.00137
NM_002292.4(LAMB2):c.3645G>A (p.Ala1215=) rs13082063 0.00137
NM_005188.4(CBL):c.2190G>C (p.Thr730=) rs143840974 0.00137
NM_153460.4(IL17RC):c.823-4C>T rs200220568 0.00137
NM_000501.4(ELN):c.1358-253G>A rs370619098 0.00136
NM_001458.5(FLNC):c.2501C>T (p.Thr834Met) rs75133741 0.00136
NM_004100.5(EYA4):c.783G>A (p.Thr261=) rs17854076 0.00136
NM_007078.3(LDB3):c.1422G>A (p.Ser474=) rs142625982 0.00136
NM_020458.4(TTC7A):c.1348G>A (p.Val450Met) rs114276698 0.00136
NM_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945 0.00135
NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr) rs139956524 0.00135
NM_000760.4(CSF3R):c.1410G>A (p.Ala470=) rs3917988 0.00135
NM_001082486.2(ACD):c.80G>A (p.Arg27Gln) rs142507451 0.00135
NM_001105206.3(LAMA4):c.1633C>T (p.Arg545Cys) rs138153075 0.00135
NM_001111.5(ADAR):c.1926T>C (p.His642=) rs150171059 0.00135
NM_001111.5(ADAR):c.2668+6T>C rs190881240 0.00135
NM_002547.3(OPHN1):c.133G>A (p.Ala45Thr) rs148262378 0.00135
NM_007315.4(STAT1):c.1222-5T>C rs191364028 0.00135
NM_014639.4(SKIC3):c.1392C>T (p.Tyr464=) rs142058280 0.00135
NM_022041.4(GAN):c.1612+12A>G rs150344737 0.00135
NM_138694.4(PKHD1):c.3537T>C (p.Asn1179=) rs141574387 0.00135
NM_138927.4(SON):c.1664C>T (p.Thr555Met) rs13049658 0.00135
NM_152564.5(VPS13B):c.2651-15A>C rs370251406 0.00135
NM_000176.3(NR3C1):c.685G>A (p.Ala229Thr) rs72542742 0.00134
NM_000334.4(SCN4A):c.2623C>T (p.Pro875Ser) rs201148948 0.00134
NM_001014987.2(LAT):c.341-38G>A rs145698858 0.00134
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300 0.00134
NM_001267550.2(TTN):c.8902+14T>A rs13388274 0.00134
NM_005957.5(MTHFR):c.708C>T (p.Phe236=) rs34279942 0.00134
NM_024027.5(COLEC11):c.432C>T (p.Ala144=) rs141691492 0.00134
NM_000243.3(MEFV):c.986G>A (p.Arg329His) rs104895112 0.00133
NM_001005373.4(LRSAM1):c.268G>A (p.Asp90Asn) rs117692127 0.00133
NM_001267550.2(TTN):c.32480C>T (p.Ala10827Val) rs72650030 0.00133
NM_001458.5(FLNC):c.6005-9T>C rs118124743 0.00133
NM_002133.3(HMOX1):c.330C>T (p.Ala110=) rs150515195 0.00133
NM_002435.3(MPI):c.10C>T (p.Pro4Ser) rs143982014 0.00133
NM_002772.3(TMPRSS15):c.1608A>G (p.Thr536=) rs147743156 0.00133
NM_015175.3(NBEAL2):c.3338C>T (p.Thr1113Met) rs202071400 0.00133
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492 0.00133
NM_182961.4(SYNE1):c.9489A>G (p.Gln3163=) rs35379711 0.00133
NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr) rs142614369 0.00132
NM_001330700.2(TOP2B):c.2251T>A (p.Leu751Ile) rs200930765 0.00132
NM_006393.3(NEBL):c.2482A>G (p.Ile828Val) rs143930021 0.00132
NM_006846.4(SPINK5):c.1451G>A (p.Arg484Lys) rs190657753 0.00132
NM_019066.5(MAGEL2):c.1304C>T (p.Pro435Leu) rs2233062 0.00132
NM_024570.4(RNASEH2B):c.859G>T (p.Ala287Ser) rs144408326 0.00132
NM_153460.4(IL17RC):c.977C>T (p.Ala326Val) rs11719981 0.00132
NM_000433.4(NCF2):c.1184G>A (p.Arg395Gln) rs145229115 0.00131
NM_001382391.1(CSPP1):c.3493C>T (p.Pro1165Ser) rs200161440 0.00131
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_006947.4(SRP72):c.1803G>A (p.Gly601=) rs143643243 0.00131
NM_001267550.2(TTN):c.24195C>T (p.Ser8065=) rs182425565 0.00130
NM_002471.4(MYH6):c.4782G>A (p.Arg1594=) rs142823394 0.00130
NM_002609.4(PDGFRB):c.581T>C (p.Ile194Thr) rs2229560 0.00130
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_013266.4(CTNNA3):c.1453A>T (p.Thr485Ser) rs140913916 0.00130
NM_153460.4(IL17RC):c.1203A>G (p.Arg401=) rs138063632 0.00130
NM_000186.4(CFH):c.1707C>T (p.Cys569=) rs144976181 0.00129
NM_001492.6(GDF1):c.55C>G (p.Leu19Val) rs370986101 0.00129
NM_002693.3(POLG):c.1585+11T>C rs201566815 0.00129
NM_006306.4(SMC1A):c.1545+4A>C rs377270943 0.00129
NM_014140.4(SMARCAL1):c.1196C>T (p.Thr399Met) rs139872089 0.00129
NM_080387.5(CLEC4D):c.177G>A (p.Glu59=) rs138087450 0.00129
NM_001267550.2(TTN):c.1002C>T (p.Thr334=) rs148094198 0.00128
NM_001267550.2(TTN):c.36285C>T (p.His12095=) rs201184203 0.00128
NM_001378969.1(KCND3):c.117T>C (p.Asp39=) rs12720446 0.00128
NM_001382347.1(MYO5A):c.2067C>G (p.Thr689=) rs111806567 0.00128
NM_001770.6(CD19):c.1580-4C>A rs148808609 0.00128
NM_004999.4(MYO6):c.1025C>T (p.Ala342Val) rs145564837 0.00128
NM_006567.5(FARS2):c.606G>A (p.Lys202=) rs17851782 0.00128
NM_007254.4(PNKP):c.831G>A (p.Thr277=) rs148491228 0.00128
NM_014845.6(FIG4):c.446+9G>A rs190287033 0.00128
NM_016373.4(WWOX):c.1035G>A (p.Ala345=) rs189695070 0.00128
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=) rs117587497 0.00128
NM_032588.4(TRIM63):c.143C>T (p.Ala48Val) rs140523053 0.00128
NM_177438.3(DICER1):c.4891T>G (p.Ser1631Ala) rs145551486 0.00128
NM_000631.5(NCF4):c.271+7G>A rs201881905 0.00127
NM_001364905.1(LRBA):c.2340A>G (p.Thr780=) rs79392371 0.00127
NM_001385012.1(NBEA):c.3833G>A (p.Arg1278Gln) rs193066744 0.00127
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272 0.00126
NM_001458.5(FLNC):c.1813+11G>T rs138716837 0.00126
NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val) rs147810437 0.00126
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590 0.00126
NM_004415.4(DSP):c.2346C>T (p.Asp782=) rs139071827 0.00126
NM_004615.4(TSPAN7):c.515C>A (p.Pro172His) rs104894951 0.00126
NM_006389.5(HYOU1):c.2029G>A (p.Val677Ile) rs147081612 0.00126
NM_018489.3(ASH1L):c.3319A>G (p.Ile1107Val) rs140137038 0.00126
NM_032119.4(ADGRV1):c.1086A>G (p.Leu362=) rs186639101 0.00126
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292 0.00125
NM_000439.5(PCSK1):c.1197-9C>T rs200973203 0.00125
NM_000628.5(IL10RB):c.442G>A (p.Val148Met) rs45545138 0.00125
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595 0.00125
NM_001365276.2(TNXB):c.9314G>A (p.Arg3105Gln) rs202113575 0.00125
NM_004369.4(COL6A3):c.489G>A (p.Ala163=) rs148970984 0.00125
NM_007078.3(LDB3):c.689+10G>A rs45563234 0.00125
NM_057176.3(BSND):c.189C>T (p.Val63=) rs144505461 0.00125
NM_001458.5(FLNC):c.597C>T (p.Ala199=) rs143942649 0.00124
NM_012232.6(CAVIN1):c.540G>A (p.Glu180=) rs143511306 0.00124
NM_000044.6(AR):c.1937C>A (p.Ala646Asp) rs1800053 0.00123
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=) rs193922628 0.00123
NM_001101426.4(CRPPA):c.790-14T>C rs142414812 0.00123
NM_005045.4(RELN):c.3123C>T (p.Gly1041=) rs41276148 0.00123
NM_005535.3(IL12RB1):c.1172C>T (p.Pro391Leu) rs140254802 0.00123
NM_022437.3(ABCG8):c.1785C>T (p.Phe595=) rs139677898 0.00123
NM_032119.4(ADGRV1):c.6608T>C (p.Val2203Ala) rs200055351 0.00123
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr) rs199865688 0.00122
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter) rs72653706 0.00122
NM_001330360.2(POLA1):c.4185C>T (p.Tyr1395=) rs61756363 0.00122
NM_003179.3(SYP):c.877G>A (p.Gly293Ser) rs139475570 0.00122
NM_005120.3(MED12):c.5748+16G>T rs199760183 0.00122
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu) rs144334281 0.00122
NM_018082.6(POLR3B):c.1873T>C (p.Leu625=) rs139376910 0.00122
NM_033004.4(NLRP1):c.923G>A (p.Arg308Gln) rs140628502 0.00122
NM_000215.4(JAK3):c.1581G>A (p.Leu527=) rs3213408 0.00121
NM_000243.3(MEFV):c.124C>T (p.Arg42Trp) rs61754767 0.00121
NM_000562.3(C8A):c.606T>C (p.Asp202=) rs150755683 0.00121
NM_001005498.4(RHBDF2):c.2064+7A>G rs201734337 0.00121
NM_001061.7(TBXAS1):c.1394G>A (p.Arg465Gln) rs41311778 0.00121
NM_001378454.1(ALMS1):c.11745C>T (p.Ser3915=) rs147831309 0.00121
NM_001550.4(IFRD1):c.568-10T>A rs565300368 0.00121
NM_004208.4(AIFM1):c.1329C>T (p.Tyr443=) rs143792929 0.00121
NM_004517.4(ILK):c.631C>T (p.Arg211Cys) rs140322345 0.00121
NM_005120.3(MED12):c.5400+6C>T rs192656109 0.00121
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe) rs2227988 0.00121
NM_005356.5(LCK):c.601G>A (p.Gly201Ser) rs11567841 0.00121
NM_021625.5(TRPV4):c.2248G>A (p.Val750Ile) rs148171058 0.00121
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=) rs45439097 0.00121
NM_001009944.3(PKD1):c.1281G>A (p.Ala427=) rs141553109 0.00120
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu) rs141493373 0.00120
NM_001201550.3(CFHR4):c.983C>T (p.Thr328Ile) rs200497324 0.00120
NM_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile) rs150860808 0.00120
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=) rs28763920 0.00120
NM_006736.6(DNAJB2):c.195C>T (p.Tyr65=) rs116719245 0.00120
NM_018668.5(VPS33B):c.357G>A (p.Lys119=) rs146758743 0.00120
NM_033118.4(MYLK2):c.1584G>A (p.Arg528=) rs55807353 0.00120
NM_201384.3(PLEC):c.9333G>A (p.Gly3111=) rs188739870 0.00120
NM_001267550.2(TTN):c.66692G>A (p.Arg22231His) rs200971254 0.00119
NM_001378452.1(ITPR1):c.4843-8C>T rs41304179 0.00119
NM_001378454.1(ALMS1):c.945T>C (p.Ser315=) rs183390773 0.00119
NM_001379081.2(FREM1):c.6258C>T (p.Tyr2086=) rs187325866 0.00119
NM_002294.3(LAMP2):c.755T>G (p.Ile252Ser) rs141541387 0.00119
NM_002473.6(MYH9):c.1158C>T (p.Thr386=) rs138502859 0.00119
NM_014629.4(ARHGEF10):c.2921+5G>C rs112954668 0.00119
NM_030930.4(UNC93B1):c.135G>A (p.Glu45=) rs572359733 0.00119
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln) rs150712805 0.00119
NM_000064.4(C3):c.2067G>A (p.Glu689=) rs147477257 0.00118
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743 0.00118
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) rs199853721 0.00118
NM_001365951.3(KIF1B):c.3259+9A>G rs149566646 0.00118
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met) rs143713841 0.00118
NM_153460.4(IL17RC):c.969C>T (p.Pro323=) rs137952141 0.00118
NM_000335.5(SCN5A):c.4297-14T>C rs56104887 0.00117
NM_001267550.2(TTN):c.60721G>C (p.Glu20241Gln) rs200212521 0.00117
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=) rs72648255 0.00117
NM_001374736.1(DST):c.17108+10A>G rs191140581 0.00117
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln) rs145644275 0.00117
NM_006267.5(RANBP2):c.7172C>G (p.Thr2391Ser) rs2433786 0.00117
NM_022114.4(PRDM16):c.3621A>T (p.Glu1207Asp) rs199972068 0.00117
NM_000123.4(ERCC5):c.3356C>T (p.Ala1119Val) rs2227871 0.00116
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu) rs143523271 0.00116
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln) rs138246328 0.00116
NM_000878.5(IL2RB):c.126C>T (p.Ala42=) rs148800183 0.00116
NM_001005361.3(DNM2):c.1218C>T (p.Asp406=) rs147668465 0.00116
NM_001035.3(RYR2):c.12159G>A (p.Glu4053=) rs41267517 0.00116
NM_001199138.2(NLRC4):c.2614+12A>T rs187140134 0.00116
NM_001261826.3(AP3D1):c.810G>A (p.Thr270=) rs200136075 0.00116
NM_002471.4(MYH6):c.1122G>A (p.Ala374=) rs148091079 0.00116
NM_002838.5(PTPRC):c.782G>T (p.Gly261Val) rs142941257 0.00116
NM_004646.4(NPHS1):c.658T>G (p.Ser220Ala) rs115333628 0.00116
NM_005477.3(HCN4):c.1356C>T (p.Ser452=) rs148453034 0.00116
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109 0.00116
NM_000337.6(SGCD):c.213G>A (p.Arg71=) rs74846539 0.00115
NM_000815.5(GABRD):c.1107C>A (p.Gly369=) rs148300882 0.00115
NM_001006658.3(CR2):c.1458T>C (p.Phe486=) rs147378770 0.00115
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) rs201213901 0.00115
NM_001374736.1(DST):c.258A>G (p.Ala86=) rs201106926 0.00115
NM_005391.5(PDK3):c.376A>G (p.Met126Val) rs138321172 0.00115
NM_001127222.2(CACNA1A):c.1518T>C (p.Val506=) rs16009 0.00114
NM_001165963.4(SCN1A):c.4731T>C (p.Asn1577=) rs145296488 0.00114
NM_001365276.2(TNXB):c.2170C>T (p.Arg724Cys) rs138771398 0.00114
NM_001943.5(DSG2):c.2703A>G (p.Lys901=) rs113591687 0.00114
NM_002473.6(MYH9):c.705+11C>T rs201738304 0.00114
NM_005026.5(PIK3CD):c.2919C>T (p.Leu973=) rs143168081 0.00114
NM_005045.4(RELN):c.3424T>A (p.Ser1142Thr) rs145484343 0.00114
NM_014704.4(CEP104):c.2736C>T (p.Gly912=) rs148360595 0.00114
NM_025099.6(CTC1):c.147C>T (p.Val49=) rs201492796 0.00114
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033 0.00113
NM_001083116.3(PRF1):c.528C>T (p.Cys176=) rs138588977 0.00113
NM_001282933.2(ZNF341):c.2148C>T (p.Cys716=) rs61734271 0.00113
NM_001365999.1(SZT2):c.2955C>T (p.Cys985=) rs151189395 0.00113
NM_001384732.1(CPLANE1):c.1755A>G (p.Ser585=) rs186970259 0.00113
NM_004006.3(DMD):c.1513G>C (p.Val505Leu) rs140340626 0.00113
NM_007126.5(VCP):c.1081+17C>T rs200756991 0.00113
NM_020964.3(EPG5):c.800C>T (p.Ser267Leu) rs180913079 0.00113
NM_022168.4(IFIH1):c.2863C>G (p.Gln955Glu) rs144455277 0.00113
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys) rs116998555 0.00113
NM_031885.5(BBS2):c.865A>G (p.Ile289Val) rs150384293 0.00113
NM_001105206.3(LAMA4):c.4665+8G>T rs184220860 0.00112
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=) rs41292592 0.00112
NM_002473.6(MYH9):c.2448C>T (p.Cys816=) rs113285582 0.00112
NM_021023.6(CFHR3):c.805A>G (p.Ile269Val) rs139520520 0.00112
NM_022369.4(STRA6):c.1685-5C>G rs201730717 0.00112
NM_001458.5(FLNC):c.4581-5T>A rs368660628 0.00111
NM_002334.4(LRP4):c.5660C>G (p.Ser1887Cys) rs149082597 0.00111
NM_002474.3(MYH11):c.57C>T (p.Asn19=) rs148464745 0.00111
NM_002661.5(PLCG2):c.1671G>A (p.Lys557=) rs372347274 0.00111
NM_014476.6(PDLIM3):c.387G>A (p.Pro129=) rs138670107 0.00111
NM_022168.4(IFIH1):c.1046A>G (p.Lys349Arg) rs72650664 0.00111
NM_153747.2(PIGC):c.393T>C (p.Tyr131=) rs61747502 0.00111
NM_000170.3(GLDC):c.498T>C (p.Pro166=) rs150193069 0.00110
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950 0.00110
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser) rs143978652 0.00110
NM_145239.3(PRRT2):c.67G>A (p.Glu23Lys) rs140383655 0.00110
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030 0.00109
NM_001009944.3(PKD1):c.580G>A (p.Ala194Thr) rs769369111 0.00109
NM_001365999.1(SZT2):c.3309+9C>T rs140366288 0.00109
NM_004525.3(LRP2):c.391A>G (p.Arg131Gly) rs34592807 0.00109
NM_015102.5(NPHP4):c.271T>C (p.Phe91Leu) rs201065230 0.00109
NM_000081.4(LYST):c.4548C>T (p.Ser1516=) rs116551057 0.00108
NM_000124.4(ERCC6):c.3456T>G (p.Gly1152=) rs148366188 0.00108
NM_000395.3(CSF2RB):c.1503G>A (p.Ser501=) rs145912937 0.00108
NM_001008212.2(OPTN):c.489A>G (p.Glu163=) rs113811959 0.00108
NM_001134363.3(RBM20):c.530C>T (p.Thr177Ile) rs183130427 0.00108
NM_006254.4(PRKCD):c.603C>T (p.Ile201=) rs75794462 0.00108
NM_006772.3(SYNGAP1):c.3134C>G (p.Ala1045Gly) rs139759084 0.00108
NM_014798.3(PLEKHM1):c.3168C>T (p.Ala1056=) rs116886592 0.00108
NM_017909.4(RMND1):c.1209T>C (p.Asn403=) rs75177593 0.00108
NM_020631.6(PLEKHG5):c.994C>T (p.Arg332Trp) rs140202670 0.00108
NM_152296.5(ATP1A3):c.357C>T (p.Asn119=) rs143547136 0.00108
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_001130823.3(DNMT1):c.493+8C>T rs138998574 0.00107
NM_001134363.3(RBM20):c.3170G>A (p.Arg1057Gln) rs188054898 0.00107
NM_001378452.1(ITPR1):c.4254G>T (p.Val1418=) rs142527379 0.00107
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln) rs184394424 0.00107
NM_001723.7(DST):c.6401C>T (p.Thr2134Met) rs115983672 0.00107
NM_006950.3(SYN1):c.1107C>T (p.Ile369=) rs150248483 0.00107
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=) rs61736827 0.00106
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His) rs187705120 0.00106
NM_000611.6(CD59):c.150G>A (p.Ala50=) rs149071679 0.00106
NM_001103.4(ACTN2):c.1383C>T (p.Ile461=) rs34827377 0.00106
NM_001843.4(CNTN1):c.804-8A>G rs56172264 0.00106
NM_006267.5(RANBP2):c.1920A>G (p.Ala640=) rs147080366 0.00106
NM_020401.4(NUP107):c.751A>T (p.Thr251Ser) rs61756065 0.00106
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) rs35912339 0.00106
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu) rs144968313 0.00106
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter) rs121434254 0.00105
NM_001267550.2(TTN):c.63165G>A (p.Pro21055=) rs72646852 0.00105
NM_005045.4(RELN):c.474-7T>C rs55693709 0.00105
NM_021628.3(ALOXE3):c.1889C>T (p.Pro630Leu) rs147149459 0.00105
NM_138694.4(PKHD1):c.3783C>T (p.Gly1261=) rs138388301 0.00105
NM_147686.4(TRAF3IP2):c.281G>A (p.Ser94Asn) rs61756667 0.00105
NM_182961.4(SYNE1):c.12350C>T (p.Thr4117Met) rs146567178 0.00105
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro) rs138760432 0.00105
NM_000188.3(HK1):c.2610-13T>A rs140249926 0.00104
NM_001035.3(RYR2):c.1135G>A (p.Val379Met) rs199693714 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_001943.5(DSG2):c.221A>G (p.His74Arg) rs201855245 0.00104
NM_002661.5(PLCG2):c.923C>T (p.Ala308Val) rs199636472 0.00104
NM_006904.7(PRKDC):c.4435G>C (p.Val1479Leu) rs199731143 0.00104
NM_000029.4(AGT):c.696T>C (p.Pro232=) rs56010258 0.00103
NM_001042432.2(CLN3):c.768C>T (p.Thr256=) rs145967477 0.00103
NM_015192.4(PLCB1):c.1230G>A (p.Ser410=) rs148848282 0.00103
NM_015662.3(IFT172):c.3530+7T>C rs150882197 0.00103
NM_018979.4(WNK1):c.3112-10C>T rs72650715 0.00103
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile) rs28937900 0.00103
NM_024675.4(PALB2):c.1194G>A (p.Val398=) rs61755173 0.00103
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp) rs145643238 0.00103
NM_152468.5(TMC8):c.660T>C (p.Thr220=) rs144040084 0.00103
NM_198252.3(GSN):c.1225G>A (p.Val409Met) rs140042418 0.00103
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=) rs147961615 0.00102
NM_000215.4(JAK3):c.252G>A (p.Pro84=) rs139738701 0.00102
NM_001009944.3(PKD1):c.2192C>T (p.Pro731Leu) rs979342927 0.00102
NM_001267550.2(TTN):c.82691C>T (p.Ala27564Val) rs55634791 0.00102
NM_003954.5(MAP3K14):c.1546G>A (p.Val516Ile) rs367938510 0.00102
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649 0.00102
NM_006096.4(NDRG1):c.789G>A (p.Ser263=) rs61755062 0.00102
NM_138694.4(PKHD1):c.5478G>A (p.Ala1826=) rs137925439 0.00102
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027 0.00101
NM_000489.6(ATRX):c.846C>T (p.Ser282=) rs148015780 0.00101
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_001009944.3(PKD1):c.6915+14A>G rs199559513 0.00101
NM_005751.5(AKAP9):c.9358+11T>C rs199714035 0.00101
NM_006231.4(POLE):c.1360-6C>T rs139836643 0.00101
NM_006279.5(ST3GAL3):c.118+10G>C rs147330005 0.00101
NM_014467.3(SRPX2):c.481C>A (p.Arg161=) rs150552508 0.00101
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=) rs147295026 0.00101
NM_025219.3(DNAJC5):c.107+10C>T rs181906972 0.00101
NM_207361.6(FREM2):c.5417G>A (p.Gly1806Asp) rs145208009 0.00101
NM_000169.3(GLA):c.978G>A (p.Lys326=) rs151195362 0.00100
NM_002972.4(SBF1):c.3765C>T (p.Tyr1255=) rs201985055 0.00100
NM_004984.4(KIF5A):c.2418G>A (p.Thr806=) rs113155897 0.00100
NM_022114.4(PRDM16):c.3570G>A (p.Pro1190=) rs541512137 0.00100
NM_022369.4(STRA6):c.357C>T (p.Pro119=) rs139775570 0.00100
NM_024334.3(TMEM43):c.392+16G>A rs150859949 0.00100
NM_032578.4(MYPN):c.3792C>T (p.Tyr1264=) rs142307556 0.00100
NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=) rs148700620 0.00099
NM_001267550.2(TTN):c.96998G>A (p.Arg32333His) rs138846756 0.00099
NM_001379286.1(ZNF423):c.3602-16C>T rs200838088 0.00099
NM_015202.5(KATNIP):c.4668C>T (p.Thr1556=) rs113619157 0.00099
NM_138927.4(SON):c.7105+10C>T rs200288082 0.00099
NM_205836.3(FBXO38):c.3019C>A (p.Gln1007Lys) rs112383068 0.00099
NM_000027.4(AGA):c.762C>T (p.Ala254=) rs145465919 0.00098
NM_004260.4(RECQL4):c.2460C>T (p.Pro820=) rs202078917 0.00098
NM_005045.4(RELN):c.4748-11T>C rs201494847 0.00098
NM_005051.3(QARS1):c.1055+10G>C rs372899947 0.00098
NM_015570.4(AUTS2):c.385C>G (p.Leu129Val) rs145480547 0.00098
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=) rs144122893 0.00097
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=) rs371480338 0.00097
NM_002582.4(PARN):c.1263-8T>G rs182460499 0.00097
NM_004281.4(BAG3):c.1436C>T (p.Ala479Val) rs34656239 0.00097
NM_006258.4(PRKG1):c.1071A>G (p.Lys357=) rs75650199 0.00097
NM_203447.4(DOCK8):c.580G>A (p.Val194Ile) rs141210649 0.00097
NM_000091.5(COL4A3):c.222G>T (p.Pro74=) rs187950806 0.00096
NM_001130987.2(DYSF):c.1447A>G (p.Met483Val) rs141818764 0.00096
NM_001191061.2(SLC25A22):c.132C>T (p.Arg44=) rs146402942 0.00096
NM_001267550.2(TTN):c.107961T>C (p.His35987=) rs377439315 0.00096
NM_001605.3(AARS1):c.1332G>A (p.Glu444=) rs150442667 0.00096
NM_004706.4(ARHGEF1):c.2412C>T (p.Thr804=) rs144745694 0.00096
NM_018979.4(WNK1):c.2206A>G (p.Ile736Val) rs147099510 0.00096
NM_020435.4(GJC2):c.1234C>T (p.His412Tyr) rs200334298 0.00096
NM_025074.7(FRAS1):c.527G>A (p.Arg176Gln) rs183328334 0.00096
NM_032578.4(MYPN):c.2880T>G (p.Ser960=) rs146028308 0.00096
NM_052813.5(CARD9):c.288C>A (p.Gly96=) rs137986801 0.00096
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=) rs139082033 0.00096
NM_172107.4(KCNQ2):c.1348G>A (p.Val450Met) rs146492238 0.00096
NM_001128840.3(CACNA1D):c.5496C>T (p.Gly1832=) rs149746093 0.00095
NM_001267550.2(TTN):c.102271C>T (p.Arg34091Trp) rs140319117 0.00095
NM_003047.5(SLC9A1):c.1821G>A (p.Gln607=) rs139314838 0.00095
NM_004960.4(FUS):c.1566G>A (p.Arg522=) rs138901914 0.00095
NM_005188.4(CBL):c.1227+20dup rs530081144 0.00095
NM_007078.3(LDB3):c.993G>A (p.Ala331=) rs140347820 0.00095
NM_020458.4(TTC7A):c.2085C>G (p.Pro695=) rs139460494 0.00095
NM_020779.4(WDR35):c.770T>C (p.Val257Ala) rs142955097 0.00095
NM_031407.7(HUWE1):c.3663G>A (p.Ser1221=) rs142126065 0.00095
NM_138927.4(SON):c.4399A>G (p.Ile1467Val) rs142751481 0.00095
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile) rs61750604 0.00094
NM_001079.4(ZAP70):c.1467C>T (p.Asp489=) rs55997284 0.00094
NM_001103.4(ACTN2):c.1864G>A (p.Asp622Asn) rs138452803 0.00094
NM_001735.3(C5):c.3029C>T (p.Ala1010Val) rs34362143 0.00094
NM_002661.5(PLCG2):c.432-3C>T rs147749022 0.00094
NM_022437.3(ABCG8):c.1941C>G (p.Val647=) rs147991100 0.00094
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu) rs146170087 0.00094
NM_138382.3(RIPPLY1):c.362A>G (p.Asn121Ser) rs41306259 0.00094
NM_001009944.3(PKD1):c.2109C>T (p.His703=) rs527655141 0.00093
NM_001282933.2(ZNF341):c.1640A>G (p.Asn547Ser) rs147329875 0.00093
NM_001365999.1(SZT2):c.8702C>T (p.Pro2901Leu) rs139027171 0.00093
NM_001556.3(IKBKB):c.-18-4A>G rs200336151 0.00093
NM_002968.3(SALL1):c.411C>T (p.Ser137=) rs151051011 0.00093
NM_006070.6(TFG):c.258G>T (p.Leu86=) rs150620449 0.00093
NM_006302.3(MOGS):c.12C>G (p.Gly4=) rs555329045 0.00093
NM_014915.3(ANKRD26):c.542C>T (p.Thr181Ile) rs191015656 0.00093
NM_021076.4(NEFH):c.883+16G>A rs534281794 0.00093
NM_032578.4(MYPN):c.734C>G (p.Ala245Gly) rs143574079 0.00093
NM_139058.3(ARX):c.802G>T (p.Val268Leu) rs587783141 0.00093
NM_000214.3(JAG1):c.1578C>T (p.Ile526=) rs1801139 0.00092
NM_001077418.3(TMEM231):c.-15C>T rs138060715 0.00092
NM_001164508.2(NEB):c.16637G>A (p.Arg5546His) rs201111610 0.00092
NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=) rs147318592 0.00092
NM_001379081.2(FREM1):c.3147C>T (p.Ser1049=) rs200894045 0.00092
NM_002471.4(MYH6):c.1083G>T (p.Gly361=) rs138928022 0.00092
NM_005120.3(MED12):c.5711C>T (p.Ala1904Val) rs200663107 0.00092
NM_014391.3(ANKRD1):c.197G>A (p.Arg66Gln) rs150797476 0.00092
NM_014967.5(FAN1):c.1194G>A (p.Glu398=) rs141494062 0.00092
NM_015909.4(NBAS):c.5808C>T (p.Asn1936=) rs141404162 0.00092
NM_000218.3(KCNQ1):c.619G>A (p.Val207Met) rs75813654 0.00091
NM_000426.4(LAMA2):c.9211+6T>C rs201375881 0.00091
NM_000726.5(CACNB4):c.5C>T (p.Ser2Phe) rs200092211 0.00091
NM_001037.5(SCN1B):c.5+7C>T rs28365106 0.00091
NM_001105206.3(LAMA4):c.514G>A (p.Gly172Ser) rs147695488 0.00091
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu) rs72646845 0.00091
NM_002661.5(PLCG2):c.771T>C (p.His257=) rs369555285 0.00091
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240 0.00091
NM_005334.3(HCFC1):c.3290A>C (p.Asn1097Thr) rs201404751 0.00091
NM_014000.3(VCL):c.660C>T (p.Asn220=) rs56264452 0.00091
NM_017654.4(SAMD9):c.3008A>G (p.Asn1003Ser) rs146087534 0.00091
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=) rs201614215 0.00091
NM_152564.5(VPS13B):c.10905T>C (p.Pro3635=) rs61754107 0.00091
NM_182961.4(SYNE1):c.6826-6A>G rs183683592 0.00091
NM_001363118.2(SLC52A2):c.228C>T (p.Asp76=) rs111588500 0.00090
NM_001458.5(FLNC):c.5418G>A (p.Ser1806=) rs376078394 0.00090
NM_000335.5(SCN5A):c.856G>T (p.Ala286Ser) rs61746118 0.00089
NM_001099922.3(ALG13):c.3414A>C (p.Ter1138Tyr) rs201820102 0.00089
NM_001136219.3(FCGR2A):c.363C>T (p.Ser121=) rs151051324 0.00089
NM_001197104.2(KMT2A):c.10850T>C (p.Leu3617Pro) rs146191865 0.00089
NM_001267550.2(TTN):c.4396T>C (p.Phe1466Leu) rs151310601 0.00089
NM_001353812.2(ATP11C):c.571C>T (p.Arg191Cys) rs140504622 0.00089
NM_001365951.3(KIF1B):c.2115+6581G>A rs41274460 0.00089
NM_001374736.1(DST):c.5059-17C>G rs190803185 0.00089
NM_001385012.1(NBEA):c.7767C>T (p.His2589=) rs139508021 0.00089
NM_015107.3(PHF8):c.2131G>A (p.Glu711Lys) rs41306749 0.00089
NM_033163.5(FGF8):c.582G>A (p.Thr194=) rs147342890 0.00089
NM_138927.4(SON):c.4851A>G (p.Ala1617=) rs146914239 0.00089
NM_182961.4(SYNE1):c.11127A>G (p.Glu3709=) rs149260051 0.00089
NM_182961.4(SYNE1):c.24481A>C (p.Asn8161His) rs36215251 0.00089
NM_000059.4(BRCA2):c.5768A>C (p.Asp1923Ala) rs45491005 0.00088
NM_000276.4(OCRL):c.40-5C>T rs201211377 0.00088
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00088
NM_001291303.3(FAT4):c.14940A>G (p.Glu4980=) rs149073729 0.00088
NM_006785.4(MALT1):c.649+9C>T rs200919386 0.00088
NM_017617.5(NOTCH1):c.6980G>A (p.Arg2327Gln) rs202065858 0.00088
NM_020822.3(KCNT1):c.1134C>T (p.Val378=) rs149960236 0.00088
NM_020964.3(EPG5):c.214G>A (p.Ala72Thr) rs201067154 0.00088
NM_025074.7(FRAS1):c.4095C>T (p.Ile1365=) rs79869130 0.00088
NM_031471.6(FERMT3):c.1188G>A (p.Gln396=) rs148021416 0.00088
NM_032119.4(ADGRV1):c.8572A>G (p.Ile2858Val) rs41308297 0.00088
NM_053025.4(MYLK):c.3832-6C>T rs185681684 0.00088
NM_138295.5(PKD1L1):c.2979A>T (p.Ser993=) rs147875086 0.00088
NM_138927.4(SON):c.3012T>C (p.Ala1004=) rs148794591 0.00088
NM_181523.3(PIK3R1):c.427+5C>A rs375394677 0.00088
NM_199355.4(ADAMTS18):c.1979G>A (p.Ser660Asn) rs148442712 0.00088
NM_203446.3(SYNJ1):c.2346G>A (p.Pro782=) rs61753644 0.00088
NM_000282.4(PCCA):c.2040+11dup rs779884567 0.00087
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser) rs141213991 0.00087
NM_001735.3(C5):c.989T>C (p.Ile330Thr) rs147430470 0.00087
NM_003665.4(FCN3):c.498G>C (p.Glu166Asp) rs56405086 0.00087
NM_006267.5(RANBP2):c.8599+16G>A rs145152325 0.00087
NM_014363.6(SACS):c.12813T>G (p.Pro4271=) rs146376949 0.00087
NM_017491.5(WDR1):c.507C>T (p.Asn169=) rs370876028 0.00087
NM_020822.3(KCNT1):c.2994G>A (p.Leu998=) rs143198263 0.00087
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter) rs121908119 0.00087
NM_000593.6(TAP1):c.465C>T (p.His155=) rs56016563 0.00086
NM_001267550.2(TTN):c.12748G>A (p.Val4250Met) rs201437752 0.00086
NM_001458.5(FLNC):c.1600G>A (p.Glu534Lys) rs201905890 0.00086
NM_002334.4(LRP4):c.3620A>G (p.Asn1207Ser) rs151234321 0.00086
NM_004356.4(CD81):c.654C>T (p.Phe218=) rs139978456 0.00086
NM_016203.4(PRKAG2):c.1584+7C>T rs111627309 0.00086
NM_017777.4(MKS1):c.27C>T (p.Asp9=) rs369488349 0.00086
NM_031942.5(CDCA7):c.45G>A (p.Lys15=) rs139753635 0.00086
NM_182914.3(SYNE2):c.14792A>G (p.Lys4931Arg) rs147640636 0.00086
NM_000208.4(INSR):c.2970G>A (p.Pro990=) rs41304772 0.00085
NM_000540.3(RYR1):c.8327C>T (p.Ser2776Phe) rs147707463 0.00085
NM_003060.4(SLC22A5):c.934A>G (p.Ile312Val) rs77300588 0.00085
NM_003327.4(TNFRSF4):c.619G>A (p.Val207Met) rs201461846 0.00085
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe) rs145393807 0.00085
NM_005334.3(HCFC1):c.2787C>T (p.Ile929=) rs200003914 0.00085
NM_001267550.2(TTN):c.102751A>G (p.Met34251Val) rs56173891 0.00084
NM_001734.5(C1S):c.1326C>T (p.Ser442=) rs148573885 0.00084
NM_002661.5(PLCG2):c.1859C>T (p.Thr620Met) rs147396004 0.00084
NM_004958.4(MTOR):c.3630T>C (p.Asp1210=) rs377751542 0.00084
NM_000238.4(KCNH2):c.51C>G (p.Thr17=) rs144338227 0.00083
NM_000282.4(PCCA):c.1065+5C>T rs201597816 0.00083
NM_001242823.2(C4B_2):c.3358C>A (p.Leu1120Ile) rs201206908 0.00083
NM_001244008.2(KIF1A):c.2117-20C>T rs200852469 0.00083
NM_001283009.2(RTEL1):c.1348+6G>A rs371358328 0.00083
NM_001290043.2(TAP2):c.1462-7T>C rs201974007 0.00083
NM_001375808.2(LPIN2):c.1876C>T (p.Pro626Ser) rs150806357 0.00083
NM_001458.5(FLNC):c.7947C>T (p.Phe2649=) rs368849358 0.00083
NM_003036.4(SKI):c.216C>T (p.Pro72=) rs756778048 0.00083
NM_015909.4(NBAS):c.5440T>C (p.Leu1814=) rs141034921 0.00083
NM_019066.5(MAGEL2):c.2281G>C (p.Ala761Pro) rs146970674 0.00083
NM_021098.3(CACNA1H):c.1824G>A (p.Leu608=) rs57260464 0.00083
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met) rs71534280 0.00083
NM_173689.7(CRB2):c.516C>T (p.Cys172=) rs146687164 0.00083
NM_194318.4(B3GLCT):c.660+1G>A rs80338851 0.00083
NM_000092.5(COL4A4):c.195T>C (p.Gly65=) rs201278620 0.00082
NM_000257.4(MYH7):c.1395C>T (p.Phe465=) rs45508293 0.00082
NM_000789.4(ACE):c.45G>C (p.Pro15=) rs1110991 0.00082
NM_001136219.3(FCGR2A):c.418A>G (p.Met140Val) rs4986941 0.00082
NM_007078.3(LDB3):c.466G>A (p.Ala156Thr) rs200596619 0.00082
NM_014629.4(ARHGEF10):c.401C>T (p.Ala134Val) rs151080025 0.00082
NM_182914.3(SYNE2):c.12673C>T (p.Pro4225Ser) rs149296737 0.00082
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356 0.00081
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090 0.00081
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser) rs113994097 0.00081
NM_007259.5(VPS45):c.290-10T>C rs192850081 0.00081
NM_015158.5(KANK1):c.1491G>A (p.Ser497=) rs114649126 0.00081
NM_016373.4(WWOX):c.1178C>T (p.Thr393Met) rs139253468 0.00081
NM_031407.7(HUWE1):c.3082A>G (p.Thr1028Ala) rs145758265 0.00081
NM_176869.3(PPA2):c.222+4T>A rs200307466 0.00081
NM_001009944.3(PKD1):c.8247G>A (p.Ala2749=) rs143265128 0.00080
NM_004517.4(ILK):c.65A>G (p.Asn22Ser) rs114115159 0.00080
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg) rs146873848 0.00080
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser) rs149636614 0.00079
NM_000051.4(ATM):c.3517T>C (p.Leu1173=) rs141460670 0.00079
NM_000051.4(ATM):c.7928-10T>C rs188404773 0.00079
NM_000540.3(RYR1):c.10119G>A (p.Val3373=) rs140689610 0.00079
NM_001130144.3(LTBP3):c.1064-10C>T rs202221935 0.00079
NM_001365999.1(SZT2):c.9555C>T (p.His3185=) rs150150240 0.00079
NM_003954.5(MAP3K14):c.326+10G>A rs372339711 0.00079
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys) rs79782048 0.00079
NM_024422.6(DSC2):c.2636A>G (p.Asp879Gly) rs143342988 0.00079
NM_031407.7(HUWE1):c.10707T>C (p.Phe3569=) rs150358853 0.00079
NM_000158.4(GBE1):c.691+2T>C rs192044702 0.00078
NM_000257.4(MYH7):c.261C>T (p.Ile87=) rs148560996 0.00078
NM_001134363.3(RBM20):c.1179C>T (p.Pro393=) rs200588338 0.00078
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn) rs144963736 0.00078
NM_001376.5(DYNC1H1):c.2719-6C>T rs199763298 0.00078
NM_001918.5(DBT):c.327C>T (p.Thr109=) rs138796800 0.00078
NM_002693.3(POLG):c.2853C>T (p.Tyr951=) rs41546712 0.00078
NM_022168.4(IFIH1):c.1066C>A (p.Pro356Thr) rs150317197 0.00078
NM_032043.3(BRIP1):c.918+15T>A rs117820198 0.00078
NM_170707.4(LMNA):c.1804G>A (p.Gly602Ser) rs60662302 0.00078
NM_000122.2(ERCC3):c.618C>T (p.Ala206=) rs145830873 0.00077
NM_000213.5(ITGB4):c.5172C>T (p.Phe1724=) rs144339436 0.00077
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=) rs143318498 0.00077
NM_001077365.2(POMT1):c.986+9A>G rs202095070 0.00077
NM_001199138.2(NLRC4):c.478G>A (p.Ala160Thr) rs113631419 0.00077
NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His) rs34700927 0.00077
NM_001458.5(FLNC):c.7990+9C>T rs566679569 0.00077
NM_004958.4(MTOR):c.2070G>A (p.Ala690=) rs55752564 0.00077
NM_021245.4(MYOZ1):c.147G>A (p.Leu49=) rs144920278 0.00077
NM_000064.4(C3):c.600-12C>T rs200316931 0.00076
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr) rs370890951 0.00076
NM_000256.3(MYBPC3):c.646G>A (p.Ala216Thr) rs201098973 0.00076
NM_000335.5(SCN5A):c.2437-13C>T rs45455099 0.00076
NM_001172303.3(MASTL):c.2120A>T (p.His707Leu) rs34635408 0.00076
NM_001243133.2(NLRP3):c.930C>T (p.Asp310=) rs143840033 0.00076
NM_001370466.1(NOD2):c.2474A>G (p.Asn825Ser) rs104895467 0.00076
NM_001458.5(FLNC):c.6175G>A (p.Val2059Met) rs201333104 0.00076
NM_003482.4(KMT2D):c.3572C>T (p.Pro1191Leu) rs112236653 0.00076
NM_004974.4(KCNA2):c.213C>T (p.Pro71=) rs116111724 0.00076
NM_005245.4(FAT1):c.2734G>A (p.Val912Ile) rs200097846 0.00076
NM_005477.3(HCN4):c.1703G>C (p.Ser568Thr) rs138714806 0.00076
NM_016122.3(CEP83):c.1151A>G (p.Lys384Arg) rs185058802 0.00076
NM_016532.4(INPP5K):c.693G>A (p.Pro231=) rs151311702 0.00076
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863 0.00075
NM_000117.3(EMD):c.495G>A (p.Thr165=) rs151074632 0.00075
NM_001164508.2(NEB):c.7581C>T (p.Tyr2527=) rs200425929 0.00075
NM_001267550.2(TTN):c.21555C>A (p.Ile7185=) rs201155967 0.00075
NM_003183.6(ADAM17):c.435C>G (p.Ala145=) rs143124556 0.00075
NM_004960.4(FUS):c.1464C>T (p.Gly488=) rs150529460 0.00075
NM_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981 0.00075
NM_024589.3(ROGDI):c.783C>T (p.Phe261=) rs142481526 0.00075
NM_138694.4(PKHD1):c.7912-5T>G rs371510537 0.00075
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe) rs1805031 0.00074
NM_001105206.3(LAMA4):c.1959T>C (p.Asp653=) rs143269044 0.00074
NM_001159699.2(FHL1):c.786C>T (p.His262=) rs141231353 0.00074
NM_006439.5(MAB21L2):c.954C>T (p.His318=) rs201523389 0.00074
NM_000303.3(PMM2):c.640-13C>T rs372181885 0.00073
NM_000501.4(ELN):c.1232T>G (p.Val411Gly) rs200180992 0.00073
NM_000878.5(IL2RB):c.1152C>T (p.Tyr384=) rs146986731 0.00073
NM_001097577.3(ANG):c.208A>G (p.Ile70Val) rs121909541 0.00073
NM_001127178.3(PIGG):c.1515G>A (p.Trp505Ter) rs150259543 0.00073
NM_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227 0.00073
NM_001370466.1(NOD2):c.2506A>G (p.Met836Val) rs104895447 0.00073
NM_001943.5(DSG2):c.216+16G>A rs200239610 0.00073
NM_002582.4(PARN):c.825C>T (p.His275=) rs374114285 0.00073
NM_002788.4(PSMA3):c.510G>A (p.Arg170=) rs17852654 0.00073
NM_003640.5(ELP1):c.3347-15A>G rs200154542 0.00073
NM_018896.5(CACNA1G):c.1646G>C (p.Gly549Ala) rs527691624 0.00073
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe) rs200059077 0.00073
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val) rs139306706 0.00073
NM_152468.5(TMC8):c.1168G>A (p.Val390Ile) rs150546646 0.00073
NM_182961.4(SYNE1):c.17797G>A (p.Ala5933Thr) rs113962905 0.00073
NM_000481.4(AMT):c.354G>A (p.Leu118=) rs145194293 0.00072
NM_001079.4(ZAP70):c.1638G>A (p.Pro546=) rs115143372 0.00072
NM_001105206.3(LAMA4):c.2950G>A (p.Val984Ile) rs145648026 0.00072
NM_001605.3(AARS1):c.2185C>T (p.Arg729Trp) rs138081804 0.00072
NM_004100.5(EYA4):c.277+9G>A rs145320803 0.00072
NM_014141.6(CNTNAP2):c.2508T>C (p.Phe836=) rs149185385 0.00072
NM_019066.5(MAGEL2):c.2290G>A (p.Ala764Thr) rs201984254 0.00072
NM_031471.6(FERMT3):c.615C>T (p.Pro205=) rs142774418 0.00072
NM_033004.4(NLRP1):c.3973G>A (p.Val1325Ile) rs144711602 0.00072
NM_152564.5(VPS13B):c.11613C>T (p.Phe3871=) rs139436386 0.00072
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000246.4(CIITA):c.691C>T (p.Pro231Ser) rs147472574 0.00071
NM_001035.3(RYR2):c.1134C>T (p.Asp378=) rs193922621 0.00071
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=) rs200048692 0.00071
NM_001184880.2(PCDH19):c.1294A>G (p.Met432Val) rs200728466 0.00071
NM_001267550.2(TTN):c.1246-16G>A rs72647847 0.00071
NM_005334.3(HCFC1):c.5298G>A (p.Pro1766=) rs377035512 0.00071
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320 0.00071
NM_006231.4(POLE):c.6004+11A>G rs201591857 0.00071
NM_000551.4(VHL):c.150C>G (p.Ala50=) rs61751580 0.00070
NM_001009944.3(PKD1):c.4836G>A (p.Thr1612=) rs138116334 0.00070
NM_001077415.3(CRELD1):c.985C>T (p.Arg329Cys) rs28942091 0.00070
NM_001113491.2(SEPTIN9):c.914-4C>T rs199809734 0.00070
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910 0.00070
NM_001267550.2(TTN):c.47077G>A (p.Val15693Ile) rs201717871 0.00070
NM_001267550.2(TTN):c.95653G>A (p.Ala31885Thr) rs72648263 0.00070
NM_001382567.1(STIM1):c.2079C>A (p.Gly693=) rs147912041 0.00070
NM_001556.3(IKBKB):c.1677G>T (p.Thr559=) rs143855451 0.00070
NM_005751.5(AKAP9):c.6176A>G (p.Glu2059Gly) rs73226383 0.00070
NM_006904.7(PRKDC):c.4009G>A (p.Val1337Ile) rs56080897 0.00070
NM_014339.7(IL17RA):c.833G>A (p.Arg278His) rs141467790 0.00070
NM_017617.5(NOTCH1):c.5500C>T (p.Leu1834=) rs73668312 0.00070
NM_138694.4(PKHD1):c.7675G>C (p.Val2559Leu) rs150046042 0.00070
NM_138927.4(SON):c.5964T>C (p.Pro1988=) rs139304331 0.00070
NM_000052.7(ATP7A):c.1009G>A (p.Ala337Thr) rs138039591 0.00069
NM_000363.5(TNNI3):c.25-4C>T rs202086705 0.00069
NM_000702.4(ATP1A2):c.2751G>A (p.Thr917=) rs146839867 0.00069
NM_001035.3(RYR2):c.8162T>C (p.Ile2721Thr) rs201500134 0.00069
NM_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) rs56102764 0.00069
NM_001164508.2(NEB):c.25038A>G (p.Gln8346=) rs184319249 0.00069
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=) rs200173934 0.00069
NM_001558.4(IL10RA):c.1235G>A (p.Arg412Gln) rs117423374 0.00069
NM_003331.5(TYK2):c.44T>C (p.Val15Ala) rs144960992 0.00069
NM_003661.4(APOL1):c.318T>C (p.Asn106=) rs141898256 0.00069
NM_004484.4(GPC3):c.1032+9C>T rs200782847 0.00069
NM_024334.3(TMEM43):c.424G>A (p.Glu142Lys) rs145619906 0.00069
NM_182916.3(TRNT1):c.331A>G (p.Ile111Val) rs149263693 0.00069
NM_000064.4(C3):c.876+19G>A rs11569574 0.00068
NM_001167.4(XIAP):c.769C>G (p.Pro257Ala) rs138783302 0.00068
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu) rs2234704 0.00068
NM_001320752.2(STS):c.1124G>C (p.Gly375Ala) rs145886038 0.00068
NM_001363118.2(SLC52A2):c.1039G>A (p.Val347Met) rs145502954 0.00068
NM_001458.5(FLNC):c.4022G>A (p.Arg1341Gln) rs149641783 0.00068
NM_006267.5(RANBP2):c.3226T>G (p.Leu1076Val) rs142768885 0.00068
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=) rs78388808 0.00068
NM_020822.3(KCNT1):c.3503-18C>T rs373901872 0.00068
NM_024782.3(NHEJ1):c.560A>G (p.Asn187Ser) rs146861504 0.00068
NM_031471.6(FERMT3):c.332G>A (p.Arg111His) rs145419469 0.00068
NM_170784.3(MKKS):c.67A>G (p.Arg23Gly) rs147545395 0.00068
NM_001105206.3(LAMA4):c.2171G>A (p.Arg724Lys) rs146868519 0.00067
NM_001276345.2(TNNT2):c.98-81G>A rs45576939 0.00067
NM_001278512.2(AP3B2):c.2349C>T (p.Ser783=) rs143109436 0.00067
NM_001734.5(C1S):c.1284C>G (p.Pro428=) rs144851896 0.00067
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_000088.4(COL1A1):c.3099+7T>C rs201682029 0.00066
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275 0.00066
NM_001077415.3(CRELD1):c.1049-299C>G rs41276501 0.00066
NM_001103.4(ACTN2):c.2649G>A (p.Ala883=) rs146426213 0.00066
NM_001267550.2(TTN):c.40498G>T (p.Val13500Phe) rs201944202 0.00066
NM_001375405.1(CEP120):c.1671G>A (p.Leu557=) rs75289011 0.00066
NM_001558.4(IL10RA):c.1072G>A (p.Asp358Asn) rs78753252 0.00066
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) rs147369153 0.00066
NM_003384.3(VRK1):c.1020C>T (p.Asp340=) rs147853760 0.00066
NM_004187.5(KDM5C):c.4303C>T (p.Arg1435Cys) rs140506776 0.00066
NM_005633.4(SOS1):c.3391+7A>G rs201982464 0.00066
NM_015559.3(SETBP1):c.4554G>A (p.Glu1518=) rs574196735 0.00066
NM_024422.6(DSC2):c.172T>G (p.Phe58Val) rs138749562 0.00066
NM_031157.4(HNRNPA1):c.546A>G (p.Ser182=) rs200707918 0.00066
NM_033380.3(COL4A5):c.3808+7C>T rs371130625 0.00066
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=) rs148795690 0.00065
NM_001009944.3(PKD1):c.3430G>A (p.Val1144Ile) rs140991712 0.00065
NM_001099922.3(ALG13):c.3093A>G (p.Gln1031=) rs372260338 0.00065
NM_001110556.2(FLNA):c.3756G>A (p.Ala1252=) rs186619828 0.00065
NM_001110556.2(FLNA):c.4866C>T (p.Tyr1622=) rs200835571 0.00065
NM_001142864.4(PIEZO1):c.1495G>A (p.Val499Ile) rs530486445 0.00065
NM_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027 0.00065
NM_001370298.3(FGD4):c.167-29728T>C rs561223009 0.00065
NM_005751.5(AKAP9):c.10254G>C (p.Gln3418His) rs61757663 0.00065
NM_152415.3(VPS37A):c.1176A>G (p.Gln392=) rs117336150 0.00065
NM_000335.5(SCN5A):c.630G>A (p.Val210=) rs193922727 0.00064
NM_001105206.3(LAMA4):c.3943G>A (p.Val1315Ile) rs70940811 0.00064
NM_001322934.2(NFKB2):c.921G>A (p.Leu307=) rs146926941 0.00064
NM_004260.4(RECQL4):c.1621-8A>G rs373357384 0.00064
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu) rs141033098 0.00064
NM_018941.4(CLN8):c.546G>A (p.Ala182=) rs144047076 0.00064
NM_025074.7(FRAS1):c.9827T>C (p.Val3276Ala) rs78006948 0.00064
NM_033004.4(NLRP1):c.3654C>A (p.Leu1218=) rs138536037 0.00064
NM_182914.3(SYNE2):c.4178G>A (p.Arg1393Gln) rs117647282 0.00064
NM_203446.3(SYNJ1):c.*552G>A rs146425050 0.00064
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943 0.00063
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter) rs121965020 0.00063
NM_001035.3(RYR2):c.1110A>G (p.Leu370=) rs150705689 0.00063
NM_001111.5(ADAR):c.3018C>T (p.Asn1006=) rs151241634 0.00063
NM_001242896.3(DEPDC5):c.3567A>G (p.Thr1189=) rs142197878 0.00063
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr) rs72629793 0.00063
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=) rs72646848 0.00063
NM_001267550.2(TTN):c.6790+12C>T rs200187117 0.00063
NM_003900.5(SQSTM1):c.924G>A (p.Ala308=) rs139482113 0.00063
NM_004172.5(SLC1A3):c.320-7C>T rs200867287 0.00063
NM_005245.4(FAT1):c.3929C>T (p.Ser1310Leu) rs200252550 0.00063
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly) rs141619382 0.00063
NM_006516.4(SLC2A1):c.276-7T>C rs369273744 0.00063
NM_019066.5(MAGEL2):c.919C>T (p.Pro307Ser) rs555920534 0.00063
NM_024570.4(RNASEH2B):c.455A>G (p.Asn152Ser) rs146451037 0.00063
NM_030665.4(RAI1):c.3650G>A (p.Arg1217Gln) rs142415050 0.00063
NM_032782.5(HAVCR2):c.776G>A (p.Arg259His) rs138681649 0.00063
NM_033028.5(BBS4):c.1236A>T (p.Glu412Asp) rs147202164 0.00063
NM_080647.1(TBX1):c.-39C>T rs72646950 0.00063
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr) rs74315448 0.00063
NM_182919.4(TICAM1):c.238G>A (p.Val80Met) rs199816697 0.00063
NM_201596.3(CACNB2):c.209G>A (p.Arg70His) rs150722502 0.00063
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114 0.00062
NM_001365088.1(SLC12A6):c.1164C>T (p.Asp388=) rs145615604 0.00062
NM_003482.4(KMT2D):c.3373C>T (p.Leu1125=) rs190643171 0.00062
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331 0.00062
NM_004415.4(DSP):c.6881C>G (p.Ala2294Gly) rs147000526 0.00062
NM_013382.7(POMT2):c.1701C>G (p.Pro567=) rs151051452 0.00062
NM_020964.3(EPG5):c.4134A>G (p.Glu1378=) rs200489622 0.00062
NM_152274.5(CCNQ):c.627C>T (p.Ala209=) rs139186601 0.00062
NM_000088.4(COL1A1):c.1461+13G>T rs371161009 0.00061
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684 0.00061
NM_000257.4(MYH7):c.1230C>T (p.Tyr410=) rs150885220 0.00061
NM_000379.4(XDH):c.3052-4C>T rs370085305 0.00061
NM_000393.5(COL5A2):c.3471+8A>T rs367643805 0.00061
NM_000875.5(IGF1R):c.2202-16T>G rs187330252 0.00061
NM_001122681.2(SH3BP2):c.441G>A (p.Ser147=) rs145235325 0.00061
NM_001122955.4(BSCL2):c.124C>T (p.Arg42Cys) rs201493373 0.00061
NM_001130438.3(SPTAN1):c.7161-9C>T rs187613754 0.00061
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_001267550.2(TTN):c.20335A>T (p.Ser6779Cys) rs149470241 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.9703+17T>A rs377693857 0.00061
NM_001365276.2(TNXB):c.9663G>A (p.Val3221=) rs2242569 0.00061
NM_001365536.1(SCN9A):c.4315G>A (p.Val1439Ile) rs149346064 0.00061
NM_001368067.1(LDB3):c.780C>T (p.Asn260=) rs372789789 0.00061
NM_001378454.1(ALMS1):c.11223G>A (p.Glu3741=) rs28730859 0.00061
NM_001943.5(DSG2):c.852T>C (p.Asn284=) rs62095193 0.00061
NM_002180.3(IGHMBP2):c.1290C>T (p.Tyr430=) rs140654955 0.00061
NM_002292.4(LAMB2):c.816T>C (p.Tyr272=) rs151251039 0.00061
NM_002474.3(MYH11):c.2049C>T (p.His683=) rs150924100 0.00061
NM_004172.5(SLC1A3):c.15T>C (p.Asn5=) rs143791614 0.00061
NM_005751.5(AKAP9):c.1737T>G (p.Ser579=) rs138049714 0.00061
NM_005883.3(APC2):c.4557G>A (p.Pro1519=) rs111280997 0.00061
NM_006267.5(RANBP2):c.7499C>T (p.Thr2500Ile) rs140280672 0.00061
NM_015102.5(NPHP4):c.4114C>T (p.Leu1372=) rs374146357 0.00061
NM_015419.4(MXRA5):c.6907G>A (p.Val2303Ile) rs201973408 0.00061
NM_015662.3(IFT172):c.1433A>T (p.Asn478Ile) rs143491198 0.00061
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr) rs191645600 0.00061
NM_024422.6(DSC2):c.2498G>A (p.Arg833His) rs370325533 0.00061
NM_032119.4(ADGRV1):c.12181G>T (p.Val4061Phe) rs200816323 0.00061
NM_177924.5(ASAH1):c.382+10A>G rs201735910 0.00061
NM_203447.4(DOCK8):c.494C>T (p.Ser165Leu) rs146490788 0.00061
NM_203447.4(DOCK8):c.5962-8C>T rs749575443 0.00061
NM_000054.7(AVPR2):c.1055G>A (p.Gly352Asp) rs146350208 0.00060
NM_001005242.3(PKP2):c.1955A>G (p.Asn652Ser) rs140852019 0.00060
NM_001105206.3(LAMA4):c.1035G>A (p.Thr345=) rs147069572 0.00060
NM_001105206.3(LAMA4):c.196-15G>C rs371906362 0.00060
NM_001111125.3(IQSEC2):c.2508G>A (p.Ala836=) rs2274308 0.00060
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=) rs188063446 0.00060
NM_001374736.1(DST):c.11542-8C>T rs370887046 0.00060
NM_001458.5(FLNC):c.1519G>A (p.Gly507Arg) rs189525930 0.00060
NM_002691.4(POLD1):c.883G>A (p.Val295Met) rs199545019 0.00060
NM_005257.6(GATA6):c.855G>T (p.Ala285=) rs1014349671 0.00060
NM_012301.4(MAGI2):c.3706+5G>A rs188293910 0.00060
NM_013236.4(ATXN10):c.76C>T (p.Leu26=) rs186793141 0.00060
NM_014874.4(MFN2):c.-4-13G>T rs373679523 0.00060
NM_024422.6(DSC2):c.1787C>T (p.Ala596Val) rs148185335 0.00060
NM_024675.4(PALB2):c.2996+17T>C rs180177128 0.00060
NM_032119.4(ADGRV1):c.14761G>A (p.Ala4921Thr) rs200115167 0.00060
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00059
NM_000206.3(IL2RG):c.325G>A (p.Glu109Lys) rs17875899 0.00059
NM_000334.4(SCN4A):c.952T>C (p.Trp318Arg) rs199676994 0.00059
NM_000431.4(MVK):c.441C>T (p.Ala147=) rs138342076 0.00059
NM_001009944.3(PKD1):c.8111C>T (p.Ala2704Val) rs200509641 0.00059
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517 0.00059
NM_001177316.2(SLC34A3):c.575C>T (p.Ser192Leu) rs199690076 0.00059
NM_001197104.2(KMT2A):c.7183T>C (p.Ser2395Pro) rs142985138 0.00059
NM_001267550.2(TTN):c.77205G>A (p.Val25735=) rs55857909 0.00059
NM_001267550.2(TTN):c.78147A>G (p.Gln26049=) rs149127072 0.00059
NM_001378615.1(CC2D2A):c.355T>C (p.Leu119=) rs202150325 0.00059
NM_018896.5(CACNA1G):c.3024C>T (p.Pro1008=) rs60632394 0.00059
NM_025074.7(FRAS1):c.2598C>T (p.Thr866=) rs149802708 0.00059
NM_032119.4(ADGRV1):c.1837C>A (p.Gln613Lys) rs199587998 0.00059
NM_133379.5(TTN):c.10920T>C (p.Ser3640=) rs142585268 0.00059
NM_000091.5(COL4A3):c.4494C>G (p.Thr1498=) rs200454769 0.00058
NM_000093.5(COL5A1):c.341C>A (p.Ala114Asp) rs147589613 0.00058
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) rs200663253 0.00058
NM_000944.5(PPP3CA):c.91G>T (p.Ala31Ser) rs200056844 0.00058
NM_001037.5(SCN1B):c.412G>A (p.Val138Ile) rs72558029 0.00058
NM_001099922.3(ALG13):c.2796A>T (p.Pro932=) rs748742452 0.00058
NM_001365276.2(TNXB):c.6972G>A (p.Thr2324=) rs202133293 0.00058
NM_001377405.1(ATXN7):c.1012+13T>A rs183496477 0.00058
NM_001558.4(IL10RA):c.320G>A (p.Arg107Gln) rs145949718 0.00058
NM_006950.3(SYN1):c.1615G>A (p.Gly539Ser) rs794727076 0.00058
NM_000142.5(FGFR3):c.1671C>T (p.Tyr557=) rs370408732 0.00057
NM_000501.4(ELN):c.1507G>A (p.Val503Met) rs41523046 0.00057
NM_000540.3(RYR1):c.2091C>T (p.Ala697=) rs138704724 0.00057
NM_001009944.3(PKD1):c.7429C>T (p.Arg2477Cys) rs376283361 0.00057
NM_001110556.2(FLNA):c.7756+8A>G rs201663443 0.00057
NM_001267550.2(TTN):c.44281C>T (p.Pro14761Ser) rs192766485 0.00057
NM_002474.3(MYH11):c.12G>A (p.Lys4=) rs112650390 0.00057
NM_005245.4(FAT1):c.1146C>A (p.Pro382=) rs371822287 0.00057
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_182972.3(IRF2BP2):c.453G>C (p.Pro151=) rs567164754 0.00057
NM_000124.4(ERCC6):c.1992+7C>T rs373710355 0.00056
NM_000234.3(LIG1):c.108-5T>C rs200668350 0.00056
NM_001110556.2(FLNA):c.3915G>A (p.Thr1305=) rs201488545 0.00056
NM_001572.5(IRF7):c.739G>A (p.Gly247Arg) rs201379782 0.00056
NM_001743.6(CALM2):c.243C>T (p.Asp81=) rs141298844 0.00056
NM_002474.3(MYH11):c.429G>A (p.Lys143=) rs200672270 0.00056
NM_002693.3(POLG):c.1275C>T (p.Ala425=) rs147404477 0.00056
NM_002693.3(POLG):c.678G>C (p.Gln226His) rs147282197 0.00056
NM_002693.3(POLG):c.798G>T (p.Val266=) rs143631183 0.00056
NM_005477.3(HCN4):c.2739G>A (p.Ala913=) rs373411041 0.00056
NM_013382.7(POMT2):c.1537A>G (p.Asn513Asp) rs117173425 0.00056
NM_014813.3(LRIG2):c.6G>C (p.Ala2=) rs140301079 0.00056
NM_016464.5(TMEM138):c.102T>A (p.Thr34=) rs139387935 0.00056
NM_033004.4(NLRP1):c.4128G>A (p.Pro1376=) rs199842944 0.00056
NM_201378.4(PLEC):c.71-11923G>A rs200842821 0.00056
NM_001134407.3(GRIN2A):c.3190A>G (p.Thr1064Ala) rs138809301 0.00055
NM_001267550.2(TTN):c.50714G>A (p.Arg16905His) rs191539637 0.00055
NM_001267550.2(TTN):c.64174C>T (p.Arg21392Cys) rs72646859 0.00055
NM_001365999.1(SZT2):c.1791C>T (p.His597=) rs151110718 0.00055
NM_001709.5(BDNF):c.-21-15601_-21-15600del rs539177035 0.00055
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser) rs34239595 0.00055
NM_013266.4(CTNNA3):c.1929C>T (p.His643=) rs147760277 0.00055
NM_014639.4(SKIC3):c.3341+9A>G rs376170264 0.00055
NM_016203.4(PRKAG2):c.1106+9G>C rs200429988 0.00055
NM_018979.4(WNK1):c.4320C>T (p.Ile1440=) rs72650730 0.00055
NM_133459.4(CCBE1):c.519A>G (p.Thr173=) rs141327514 0.00055
NM_000090.4(COL3A1):c.114C>G (p.Ser38=) rs141241764 0.00054
NM_000383.4(AIRE):c.1476C>T (p.Pro492=) rs72650679 0.00054
NM_001005373.4(LRSAM1):c.1860C>T (p.His620=) rs147734401 0.00054
NM_001018005.2(TPM1):c.*68A>G rs374459540 0.00054
NM_001103.4(ACTN2):c.1452G>A (p.Gln484=) rs200529923 0.00054
NM_001110556.2(FLNA):c.3597G>A (p.Ser1199=) rs200258756 0.00054
NM_001130438.3(SPTAN1):c.4283C>G (p.Ala1428Gly) rs143166100 0.00054
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) rs72646855 0.00054
NM_001943.5(DSG2):c.437G>T (p.Arg146Leu) rs113451409 0.00054
NM_001943.5(DSG2):c.44T>A (p.Leu15Gln) rs372174546 0.00054
NM_002470.4(MYH3):c.3731C>T (p.Ala1244Val) rs140074626 0.00054
NM_002471.4(MYH6):c.3573C>T (p.Ala1191=) rs727505358 0.00054
NM_006950.3(SYN1):c.426A>G (p.Lys142=) rs145911562 0.00054
NM_007078.3(LDB3):c.1111G>A (p.Ala371Thr) rs45539535 0.00054
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=) rs141078449 0.00054
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln) rs74315342 0.00054
NM_181078.3(IL21R):c.426C>T (p.Tyr142=) rs137868301 0.00054
NM_000335.5(SCN5A):c.895T>A (p.Leu299Met) rs199473087 0.00053
NM_000391.4(TPP1):c.509-1G>C rs56144125 0.00053
NM_000417.3(IL2RA):c.711A>G (p.Thr237=) rs11256354 0.00053
NM_001032221.6(STXBP1):c.326-8A>G rs180716154 0.00053
NM_001082486.2(ACD):c.22G>A (p.Val8Ile) rs149365469 0.00053
NM_001376.5(DYNC1H1):c.345-10T>G rs202110844 0.00053
NM_001458.5(FLNC):c.2125G>A (p.Ala709Thr) rs192725607 0.00053
NM_002474.3(MYH11):c.3031T>C (p.Leu1011=) rs112861184 0.00053
NM_003042.4(SLC6A1):c.846C>T (p.Ser282=) rs139315755 0.00053
NM_006904.7(PRKDC):c.11337C>T (p.Ser3779=) rs55789637 0.00053
NM_015046.7(SETX):c.3336T>C (p.Ala1112=) rs150687078 0.00053
NM_015922.3(NSDHL):c.356G>A (p.Arg119Lys) rs200930841 0.00053
NM_017553.3(INO80):c.2998C>T (p.Arg1000Cys) rs149600837 0.00053
NM_025074.7(FRAS1):c.11306A>G (p.Asn3769Ser) rs112039037 0.00053
NM_152564.5(VPS13B):c.983A>G (p.His328Arg) rs181625846 0.00053
NM_201384.3(PLEC):c.8040C>T (p.Asp2680=) rs373341589 0.00053
NM_000298.6(PKLR):c.1529G>A (p.Arg510Gln) rs113403872 0.00052
NM_001018004.2(TPM1):c.775A>G (p.Lys259Glu) rs144045691 0.00052
NM_001148.6(ANK2):c.9046G>A (p.Glu3016Lys) rs149963885 0.00052
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=) rs376810671 0.00052
NM_002471.4(MYH6):c.3903G>A (p.Ser1301=) rs201804323 0.00052
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921 0.00052
NM_004484.4(GPC3):c.359G>A (p.Arg120His) rs148021273 0.00052
NM_006258.4(PRKG1):c.1963-16T>G rs376174664 0.00052
NM_007126.5(VCP):c.*4G>T rs201091341 0.00052
NM_024408.4(NOTCH2):c.1567+8C>T rs372367275 0.00052
NM_025074.7(FRAS1):c.6939C>T (p.Pro2313=) rs150936204 0.00052
NM_152266.5(FAAP24):c.312A>G (p.Leu104=) rs146829849 0.00052
NM_182914.3(SYNE2):c.4912T>C (p.Tyr1638His) rs146801942 0.00052
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=) rs56025670 0.00051
NM_000057.4(BLM):c.465T>C (p.Asp155=) rs185349681 0.00051
NM_000250.2(MPO):c.518A>G (p.Tyr173Cys) rs78950939 0.00051
NM_000454.5(SOD1):c.72+19G>A rs201574089 0.00051
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00051
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=) rs370332882 0.00051
NM_001103.4(ACTN2):c.927C>T (p.Pro309=) rs145411160 0.00051
NM_001105206.3(LAMA4):c.2655C>T (p.Leu885=) rs35772073 0.00051
NM_001267550.2(TTN):c.93005G>T (p.Ser31002Ile) rs180975448 0.00051
NM_001330260.2(SCN8A):c.1470A>G (p.Glu490=) rs187115247 0.00051
NM_001375808.2(LPIN2):c.1043C>T (p.Pro348Leu) rs34676691 0.00051
NM_002667.5(PLN):c.27C>T (p.Arg9=) rs145623013 0.00051
NM_003384.3(VRK1):c.375-8G>C rs191021502 0.00051
NM_004208.4(AIFM1):c.72C>T (p.Cys24=) rs373609902 0.00051
NM_005245.4(FAT1):c.4516C>T (p.Arg1506Cys) rs199516712 0.00051
NM_014000.3(VCL):c.2521G>C (p.Asp841His) rs150385900 0.00051
NM_014629.4(ARHGEF10):c.2063G>A (p.Ser688Asn) rs143290224 0.00051
NM_015046.7(SETX):c.7914C>T (p.Phe2638=) rs80296256 0.00051
NM_020297.4(ABCC9):c.372T>C (p.Asn124=) rs377384557 0.00051
NM_021625.5(TRPV4):c.769C>G (p.Leu257Val) rs56217500 0.00051
NM_024496.4(IRF2BPL):c.387C>T (p.Asn129=) rs767883776 0.00051
NM_199242.3(UNC13D):c.2553+5C>G rs201930023 0.00051
NM_001065.4(TNFRSF1A):c.1075C>T (p.Leu359=) rs151344628 0.00050
NM_001323289.2(CDKL5):c.2022C>G (p.Ser674=) rs763419895 0.00050
NM_001365276.2(TNXB):c.7954G>A (p.Glu2652Lys) rs202211608 0.00050
NM_001378156.1(C1QB):c.621C>T (p.Thr207=) rs149718049 0.00050
NM_004484.4(GPC3):c.660C>T (p.Ser220=) rs138450923 0.00050
NM_004531.5(MOCS2):c.510C>T (p.Tyr170=) rs77310478 0.00050
NM_005529.7(HSPG2):c.7337C>T (p.Ser2446Leu) rs146950983 0.00050
NM_006254.4(PRKCD):c.1362C>T (p.Ala454=) rs41295962 0.00050
NM_198253.3(TERT):c.2106G>A (p.Pro702=) rs151055240 0.00050
NM_000186.4(CFH):c.285T>C (p.Thr95=) rs148182625 0.00049
NM_000218.3(KCNQ1):c.984C>T (p.Ile328=) rs140019543 0.00049
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682 0.00049
NM_001148.6(ANK2):c.231G>A (p.Val77=) rs149699185 0.00049
NM_001243133.2(NLRP3):c.2176A>G (p.Ser726Gly) rs147946775 0.00049
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064 0.00049
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile) rs200650668 0.00049
NM_001379200.1(TBX1):c.540-8C>T rs72646960 0.00049
NM_002838.5(PTPRC):c.3073-6A>G rs191867796 0.00049
NM_004168.4(SDHA):c.723C>T (p.Asp241=) rs146653693 0.00049
NM_004407.4(DMP1):c.1107C>T (p.Asp369=) rs147451774 0.00049
NM_017864.4(INTS8):c.1665T>C (p.Ser555=) rs373374701 0.00049
NM_031885.5(BBS2):c.472-10T>C rs138714256 0.00049
NM_033337.3(CAV3):c.276C>T (p.Phe92=) rs72546669 0.00049
NM_181486.4(TBX5):c.827G>A (p.Ser276Asn) rs147977741 0.00049
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=) rs80359810 0.00048
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137 0.00048
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys) rs3729712 0.00048
NM_001035.3(RYR2):c.10231-4T>C rs117180147 0.00048
NM_001126108.2(SLC12A3):c.1386C>T (p.Phe462=) rs142199602 0.00048
NM_001291415.2(KDM6A):c.1558T>C (p.Cys520Arg) rs138723332 0.00048
NM_001386125.1(OBSCN):c.11476C>T (p.Arg3826Cys) rs368391379 0.00048
NM_001845.6(COL4A1):c.708C>G (p.Val236=) rs139523466 0.00048
NM_002474.3(MYH11):c.3973C>G (p.Gln1325Glu) rs150033906 0.00048
NM_004415.4(DSP):c.1574+14G>T rs200443042 0.00048
NM_006284.4(TAF10):c.*1629G>A rs149710421 0.00048
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948 0.00048
NM_020366.4(RPGRIP1):c.2100G>T (p.Arg700=) rs369515171 0.00048
NM_020433.5(JPH2):c.572C>G (p.Pro191Arg) rs554853074 0.00048
NM_020774.4(MIB1):c.2586+17A>G rs370642266 0.00048
NM_021871.4(FGA):c.1417G>A (p.Asp473Asn) rs200378626 0.00048
NM_024334.3(TMEM43):c.705+7G>A rs201916031 0.00048
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944 0.00048
NM_138694.4(PKHD1):c.9363T>C (p.Asn3121=) rs183674012 0.00048
NM_170707.4(LMNA):c.1911C>T (p.Phe637=) rs117939448 0.00048
NM_001174147.2(LMX1B):c.140-4A>G rs368126014 0.00047
NM_001267550.2(TTN):c.54189T>C (p.Tyr18063=) rs2303834 0.00047
NM_001267550.2(TTN):c.55925T>A (p.Leu18642Gln) rs140714512 0.00047
NM_001303256.3(MORC2):c.1499-9T>C rs201213165 0.00047
NM_001365276.2(TNXB):c.1302C>G (p.Ala434=) rs767040315 0.00047
NM_001365276.2(TNXB):c.4209C>T (p.Thr1403=) rs148934769 0.00047
NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe) rs115223340 0.00047
NM_003238.6(TGFB2):c.356C>T (p.Pro119Leu) rs149533093 0.00047
NM_005120.3(MED12):c.2613G>A (p.Gln871=) rs372344160 0.00047
NM_015330.6(SPECC1L):c.496A>G (p.Met166Val) rs199673620 0.00047
NM_019842.4(KCNQ5):c.1689A>G (p.Arg563=) rs116950019 0.00047
NM_024782.3(NHEJ1):c.57A>G (p.Ala19=) rs61757394 0.00047
NM_138295.5(PKD1L1):c.5108G>A (p.Arg1703His) rs146605392 0.00047
NM_000081.4(LYST):c.143A>G (p.His48Arg) rs200132460 0.00046
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) rs200754249 0.00046
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_000489.6(ATRX):c.4120+4A>C rs200420513 0.00046
NM_000552.5(VWF):c.7344C>T (p.Cys2448=) rs55944252 0.00046
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=) rs373721253 0.00046
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=) rs373282364 0.00046
NM_001099922.3(ALG13):c.2485A>G (p.Met829Val) rs368075878 0.00046
NM_001105206.3(LAMA4):c.5344C>T (p.Arg1782Cys) rs145897390 0.00046
NM_001110556.2(FLNA):c.1579C>T (p.Arg527Cys) rs202029322 0.00046
NM_001110556.2(FLNA):c.7267C>T (p.Pro2423Ser) rs200198847 0.00046
NM_001111125.3(IQSEC2):c.2571C>A (p.Ile857=) rs146979083 0.00046
NM_001134363.3(RBM20):c.1659G>A (p.Ser553=) rs375626512 0.00046
NM_001267550.2(TTN):c.52110G>A (p.Pro17370=) rs139789997 0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_002474.3(MYH11):c.3816G>A (p.Glu1272=) rs112990531 0.00046
NM_004006.3(DMD):c.2457A>C (p.Leu819=) rs72468680 0.00046
NM_005720.4(ARPC1B):c.432C>T (p.Thr144=) rs148826187 0.00046
NM_006888.6(CALM1):c.303C>T (p.Ile101=) rs143503733 0.00046
NM_007254.4(PNKP):c.672C>T (p.Arg224=) rs151180981 0.00046
NM_015272.5(RPGRIP1L):c.3312C>T (p.Pro1104=) rs568801926 0.00046
NM_021245.4(MYOZ1):c.343G>A (p.Gly115Ser) rs139908512 0.00046
NM_024334.3(TMEM43):c.1105C>T (p.Leu369Phe) rs144152046 0.00046
NM_000053.4(ATP7B):c.2544C>T (p.Gly848=) rs200996053 0.00045
NM_000091.5(COL4A3):c.2826C>T (p.Pro942=) rs201064766 0.00045
NM_000335.5(SCN5A):c.2437-5C>A rs72549411 0.00045
NM_001009944.3(PKD1):c.10654G>T (p.Ala3552Ser) rs141670808 0.00045
NM_001042432.2(CLN3):c.831G>A (p.Val277=) rs1142183 0.00045
NM_001267550.2(TTN):c.11370A>G (p.Gln3790=) rs72648918 0.00045
NM_001283009.2(RTEL1):c.2706C>T (p.Ala902=) rs116788553 0.00045
NM_001368809.2(AMPD2):c.1992C>T (p.Val664=) rs143163487 0.00045
NM_001395656.1(ROBO2):c.4341C>T (p.Gly1447=) rs184958084 0.00045
NM_001458.5(FLNC):c.3966C>T (p.Gly1322=) rs200237564 0.00045
NM_004100.5(EYA4):c.1035G>C (p.Arg345Ser) rs140170914 0.00045
NM_004172.5(SLC1A3):c.648T>C (p.Asn216=) rs139342707 0.00045
NM_006892.4(DNMT3B):c.2142G>A (p.Leu714=) rs143847495 0.00045
NM_015346.4(ZFYVE26):c.5260G>A (p.Ala1754Thr) rs146968463 0.00045
NM_053025.4(MYLK):c.999G>A (p.Pro333=) rs13319347 0.00045
NM_133379.5(TTN):c.16328T>C (p.Val5443Ala) rs145183384 0.00045
NM_173689.7(CRB2):c.2547C>T (p.Pro849=) rs201242880 0.00045
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=) rs147797612 0.00044
NM_001083116.3(PRF1):c.368G>A (p.Arg123His) rs139336186 0.00044
NM_001308093.3(GATA4):c.348C>T (p.Ser116=) rs772532276 0.00044
NM_002087.4(GRN):c.903G>A (p.Ser301=) rs63750142 0.00044
NM_003611.3(OFD1):c.1654+9C>T rs200007045 0.00044
NM_014314.4(RIGI):c.9C>T (p.Thr3=) rs142058831 0.00044
NM_015922.3(NSDHL):c.678C>T (p.Phe226=) rs147293409 0.00044
NM_024101.7(MLPH):c.487G>A (p.Asp163Asn) rs3751108 0.00044
NM_145239.3(PRRT2):c.439G>C (p.Asp147His) rs79568162 0.00044
NM_176869.3(PPA2):c.683C>T (p.Pro228Leu) rs138215926 0.00044
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=) rs370346797 0.00043
NM_000538.4(RFXAP):c.666A>G (p.Ala222=) rs139675642 0.00043
NM_001037.5(SCN1B):c.448+314C>A rs373295182 0.00043
NM_001267550.2(TTN):c.41521G>A (p.Asp13841Asn) rs201257644 0.00043
NM_001270508.2(TNFAIP3):c.2231G>A (p.Gly744Asp) rs150355046 0.00043
NM_001572.5(IRF7):c.392G>A (p.Arg131Gln) rs201036875 0.00043
NM_002303.6(LEPR):c.1246C>T (p.His416Tyr) rs144710810 0.00043
NM_002471.4(MYH6):c.4905C>T (p.Asn1635=) rs143048583 0.00043
NM_004715.5(CTDP1):c.668C>T (p.Thr223Met) rs149796311 0.00043
NM_006412.4(AGPAT2):c.589-2A>G rs116807569 0.00043
NM_014365.3(HSPB8):c.432-16C>T rs183447670 0.00043
NM_001103.4(ACTN2):c.893G>A (p.Arg298His) rs142482143 0.00042
NM_001267550.2(TTN):c.57442A>G (p.Met19148Val) rs188185141 0.00042
NM_001384732.1(CPLANE1):c.8175A>C (p.Ala2725=) rs201122718 0.00042
NM_001999.4(FBN2):c.8257G>A (p.Glu2753Lys) rs146781484 0.00042
NM_007294.4(BRCA1):c.-20+11C>T rs273898672 0.00042
NM_153240.5(NPHP3):c.393+18C>T rs367765709 0.00042
NM_000116.5(TAFAZZIN):c.542-20C>T rs373841640 0.00041
NM_000213.5(ITGB4):c.1749C>T (p.Ile583=) rs144302042 0.00041
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser) rs118203670 0.00041
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser) rs147420365 0.00041
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=) rs373606009 0.00041
NM_001164277.2(SLC37A4):c.1240C>T (p.Leu414=) rs200703321 0.00041
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln) rs77563738 0.00041
NM_001365536.1(SCN9A):c.4923T>C (p.Leu1641=) rs199550149 0.00041
NM_001374353.1(GLI2):c.2034G>A (p.Thr678=) rs139298853 0.00041
NM_001374736.1(DST):c.4638+7A>T rs185349093 0.00041
NM_002471.4(MYH6):c.4193G>A (p.Arg1398Gln) rs150815925 0.00041
NM_002471.4(MYH6):c.643-5C>T rs199859986 0.00041
NM_003664.5(AP3B1):c.3207G>A (p.Gln1069=) rs34089426 0.00041
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121 0.00041
NM_005245.4(FAT1):c.10194C>T (p.Leu3398=) rs373756658 0.00041
NM_005546.4(ITK):c.1455C>T (p.Ala485=) rs201568204 0.00041
NM_005660.3(SLC35A2):c.30C>G (p.Thr10=) rs373480204 0.00041
NM_014467.3(SRPX2):c.980A>G (p.Asn327Ser) rs121918363 0.00041
NM_015335.5(MED13L):c.4691C>T (p.Pro1564Leu) rs112709561 0.00041
NM_017617.5(NOTCH1):c.2325C>T (p.Tyr775=) rs749686245 0.00041
NM_024685.4(BBS10):c.886G>A (p.Ala296Thr) rs150587582 0.00041
NM_030665.4(RAI1):c.1941C>T (p.Ser647=) rs140198185 0.00041
NM_000093.5(COL5A1):c.126C>T (p.Leu42=) rs149369116 0.00040
NM_000238.4(KCNH2):c.2965+14C>T rs201706355 0.00040
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074 0.00040
NM_001023570.4(IQCB1):c.782T>G (p.Leu261Arg) rs199959360 0.00040
NM_001040142.2(SCN2A):c.1416A>G (p.Arg472=) rs200246820 0.00040
NM_001368067.1(LDB3):c.771G>A (p.Thr257=) rs144445130 0.00040
NM_004006.3(DMD):c.2490C>T (p.Asn830=) rs72468679 0.00040
NM_004281.4(BAG3):c.888C>T (p.His296=) rs139399890 0.00040
NM_017617.5(NOTCH1):c.3644-4G>A rs376161552 0.00040
NM_017780.4(CHD7):c.2751G>A (p.Thr917=) rs369429961 0.00040
NM_019066.5(MAGEL2):c.1423G>T (p.Ala475Ser) rs760039339 0.00040
NM_052813.5(CARD9):c.12C>T (p.Tyr4=) rs35051231 0.00040
NM_000059.4(BRCA2):c.516+54T>C rs368799999 0.00039
NM_000433.4(NCF2):c.93C>T (p.Ala31=) rs143889676 0.00039
NM_000475.5(NR0B1):c.600C>G (p.Cys200Trp) rs143141578 0.00039
NM_001005242.3(PKP2):c.1418A>G (p.Asn473Ser) rs144536197 0.00039
NM_001035.3(RYR2):c.9519T>C (p.Thr3173=) rs371931287 0.00039
NM_001105206.3(LAMA4):c.863C>G (p.Ala288Gly) rs150084275 0.00039
NM_002294.3(LAMP2):c.586A>T (p.Thr196Ser) rs138991195 0.00039
NM_003041.4(SLC5A2):c.1275G>A (p.Val425=) rs183103554 0.00039
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile) rs56105708 0.00039
NM_003982.4(SLC7A7):c.999G>A (p.Arg333=) rs146720775 0.00039
NM_004006.3(DMD):c.6828C>T (p.Pro2276=) rs72466595 0.00039
NM_004408.4(DNM1):c.1707C>T (p.Asn569=) rs145318071 0.00039
NM_006306.4(SMC1A):c.2824C>T (p.Leu942=) rs139654605 0.00039
NM_014141.6(CNTNAP2):c.1777+13T>G rs188140291 0.00039
NM_015046.7(SETX):c.3345C>G (p.Ala1115=) rs142020270 0.00039
NM_020297.4(ABCC9):c.2050G>A (p.Gly684Ser) rs148174226 0.00039
NM_024921.4(POF1B):c.85C>A (p.His29Asn) rs145288396 0.00039
NM_025137.4(SPG11):c.3486T>C (p.Phe1162=) rs139532029 0.00039
NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=) rs139070070 0.00038
NM_000186.4(CFH):c.245-8C>T rs537160602 0.00038
NM_000217.3(KCNA1):c.1125C>T (p.Tyr375=) rs144351014 0.00038
NM_000238.4(KCNH2):c.1128+1865C>T rs200324802 0.00038
NM_000302.4(PLOD1):c.1756-13C>T rs370882934 0.00038
NM_001008537.3(NEXMIF):c.2098G>C (p.Val700Leu) rs141776597 0.00038
NM_001164508.2(NEB):c.13175G>A (p.Arg4392His) rs772352938 0.00038
NM_001199107.2(TBC1D24):c.204G>A (p.Thr68=) rs201374999 0.00038
NM_003640.5(ELP1):c.1911T>C (p.Val637=) rs369645371 0.00038
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala) rs142303658 0.00038
NM_020433.5(JPH2):c.1204G>A (p.Glu402Lys) rs147407445 0.00038
NM_020919.4(ALS2):c.1641G>A (p.Arg547=) rs34122078 0.00038
NM_022436.3(ABCG5):c.1365C>T (p.Asp455=) rs141016088 0.00038
NM_032634.4(PIGO):c.655+7A>C rs118002220 0.00038
NM_080911.3(UNG):c.183G>A (p.Pro61=) rs147490205 0.00038
NM_138694.4(PKHD1):c.1234-9T>C rs200707468 0.00038
NM_000098.3(CPT2):c.1602G>A (p.Glu534=) rs148110518 0.00037
NM_000179.3(MSH6):c.1449G>T (p.Val483=) rs35590297 0.00037
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893 0.00037
NM_000593.6(TAP1):c.1927C>T (p.Leu643=) rs41559815 0.00037
NM_001009944.3(PKD1):c.5577T>C (p.Ala1859=) rs140662778 0.00037
NM_001079.4(ZAP70):c.1656C>T (p.Ile552=) rs150096962 0.00037
NM_001287.6(CLCN7):c.1883+7C>T rs372691390 0.00037
NM_001349253.2(SCN11A):c.268-3C>T rs200598776 0.00037
NM_018648.4(NOP10):c.55-9C>T rs72720799 0.00037
NM_032578.4(MYPN):c.1662A>C (p.Ala554=) rs71584488 0.00037
NM_138295.5(PKD1L1):c.3845T>A (p.Val1282Glu) rs138130715 0.00037
NM_000257.4(MYH7):c.2349C>T (p.Arg783=) rs139882431 0.00036
NM_000258.3(MYL3):c.307+15C>T rs184025552 0.00036
NM_001009944.3(PKD1):c.3495C>T (p.Asp1165=) rs375384742 0.00036
NM_001065.4(TNFRSF1A):c.369C>T (p.Thr123=) rs104895260 0.00036
NM_001148.6(ANK2):c.2727T>A (p.Thr909=) rs144548535 0.00036
NM_001267550.2(TTN):c.79410G>A (p.Gly26470=) rs140942979 0.00036
NM_001364905.1(LRBA):c.3009T>A (p.Ser1003=) rs149919062 0.00036
NM_001378454.1(ALMS1):c.4329G>T (p.Leu1443Phe) rs192499639 0.00036
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met) rs145611185 0.00036
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp) rs145252402 0.00036
NM_003359.4(UGDH):c.792G>A (p.Lys264=) rs116145557 0.00036
NM_004006.3(DMD):c.3163-18T>C rs72468662 0.00036
NM_006267.5(RANBP2):c.3350C>T (p.Ser1117Leu) rs137976808 0.00036
NM_014795.4(ZEB2):c.1276T>A (p.Leu426Ile) rs201881288 0.00036
NM_020774.4(MIB1):c.736T>C (p.Leu246=) rs188600853 0.00036
NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val) rs115976458 0.00036
NM_024422.6(DSC2):c.1914G>C (p.Gln638His) rs147742157 0.00036
NM_145725.3(TRAF3):c.1194C>T (p.Arg398=) rs151258452 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_198994.3(TGM6):c.555C>T (p.Asp185=) rs144101264 0.00036
NM_203447.4(DOCK8):c.54-1G>T rs192864327 0.00036
NM_000229.2(LCAT):c.597C>T (p.Val199=) rs5922 0.00035
NM_000257.4(MYH7):c.2334C>T (p.Asp778=) rs2069544 0.00035
NM_000834.5(GRIN2B):c.3807A>T (p.Pro1269=) rs78765966 0.00035
NM_001009944.3(PKD1):c.5783C>G (p.Pro1928Arg) rs201991587 0.00035
NM_001081.4(CUBN):c.5196C>T (p.Thr1732=) rs182162293 0.00035
NM_001267550.2(TTN):c.57212T>C (p.Ile19071Thr) rs200001206 0.00035
NM_001267550.2(TTN):c.70907G>A (p.Arg23636His) rs56071233 0.00035
NM_001267550.2(TTN):c.96016G>A (p.Val32006Met) rs191786700 0.00035
NM_002470.4(MYH3):c.3729+9C>T rs201955505 0.00035
NM_002578.5(PAK3):c.277-1193G>A rs200670003 0.00035
NM_002764.4(PRPS1):c.573G>A (p.Leu191=) rs770518315 0.00035
NM_004006.3(DMD):c.1095A>C (p.Gln365His) rs1800266 0.00035
NM_004463.3(FGD1):c.2043C>T (p.Val681=) rs144902747 0.00035
NM_005373.3(MPL):c.305G>C (p.Arg102Pro) rs28928907 0.00035
NM_016123.4(IRAK4):c.877C>T (p.Gln293Ter) rs121908002 0.00035
NM_016203.4(PRKAG2):c.247C>T (p.Pro83Ser) rs148791216 0.00035
NM_021072.4(HCN1):c.124C>T (p.Pro42Ser) rs56164833 0.00035
NM_024422.6(DSC2):c.1775C>T (p.Ala592Val) rs140232809 0.00035
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_144573.4(NEXN):c.512T>C (p.Ile171Thr) rs372065024 0.00035
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=) rs150291001 0.00034
NM_000277.3(PAH):c.898G>T (p.Ala300Ser) rs5030853 0.00034
NM_000454.5(SOD1):c.423T>A (p.Ala141=) rs143100660 0.00034
NM_001083962.2(TCF4):c.966T>C (p.Asp322=) rs142998298 0.00034
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) rs61749713 0.00034
NM_001267550.2(TTN):c.52536C>G (p.Asn17512Lys) rs199615557 0.00034
NM_001270508.2(TNFAIP3):c.2090G>A (p.Arg697Lys) rs201429571 0.00034
NM_001378454.1(ALMS1):c.7820C>G (p.Ala2607Gly) rs140223281 0.00034
NM_001378969.1(KCND3):c.641A>G (p.Lys214Arg) rs142744204 0.00034
NM_001458.5(FLNC):c.7991-19C>T rs537052947 0.00034
NM_001715.3(BLK):c.879C>T (p.His293=) rs142623841 0.00034
NM_001909.5(CTSD):c.1071+12A>G rs113936232 0.00034
NM_001999.4(FBN2):c.6666G>A (p.Pro2222=) rs192923239 0.00034
NM_002474.3(MYH11):c.472G>A (p.Ala158Thr) rs375998236 0.00034
NM_002524.5(NRAS):c.360G>A (p.Leu120=) rs143020946 0.00034
NM_002578.5(PAK3):c.1518G>A (p.Arg506=) rs377693111 0.00034
NM_002972.4(SBF1):c.5370C>T (p.Tyr1790=) rs184360634 0.00034
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812 0.00034
NM_003673.4(TCAP):c.60C>G (p.Ala20=) rs146502276 0.00034
NM_004463.3(FGD1):c.935C>T (p.Pro312Leu) rs28935498 0.00034
NM_004975.4(KCNB1):c.1576G>A (p.Val526Ile) rs140932636 0.00034
NM_007375.4(TARDBP):c.239-15G>A rs200066188 0.00034
NM_017617.5(NOTCH1):c.1981G>A (p.Gly661Ser) rs201077220 0.00034
NM_017668.3(NDE1):c.948-2788A>G rs118072250 0.00034
NM_017739.4(POMGNT1):c.1539+1G>A rs138642840 0.00034
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu) rs41272437 0.00034
NM_021098.3(CACNA1H):c.3925G>A (p.Val1309Ile) rs201352768 0.00034
NM_032043.3(BRIP1):c.380-17T>A rs200050729 0.00034
NM_133379.5(TTN):c.15575G>A (p.Arg5192Lys) rs62179016 0.00034
NM_172107.4(KCNQ2):c.297-18C>T rs370109710 0.00034
NM_000251.3(MSH2):c.2154A>G (p.Gln718=) rs63750810 0.00033
NM_000268.4(NF2):c.1113C>T (p.Asn371=) rs142459414 0.00033
NM_000836.4(GRIN2D):c.3628C>T (p.Pro1210Ser) rs773824115 0.00033
NM_001110556.2(FLNA):c.1044C>T (p.Pro348=) rs375821223 0.00033
NM_001270508.2(TNFAIP3):c.322A>G (p.Thr108Ala) rs376205580 0.00033
NM_001999.4(FBN2):c.4983C>T (p.Cys1661=) rs143907156 0.00033
NM_004281.4(BAG3):c.230C>T (p.Pro77Leu) rs141355480 0.00033
NM_004415.4(DSP):c.5178C>A (p.Asn1726Lys) rs147415451 0.00033
NM_014000.3(VCL):c.492T>G (p.Leu164=) rs143702799 0.00033
NM_014795.4(ZEB2):c.759C>T (p.Arg253=) rs150853991 0.00033
NM_018834.6(MATR3):c.1893C>T (p.Ser631=) rs143527811 0.00033
NM_022436.3(ABCG5):c.27C>T (p.Pro9=) rs72542428 0.00033
NM_170665.4(ATP2A2):c.3064A>G (p.Ile1022Val) rs140234740 0.00033
NM_000061.3(BTK):c.1701A>G (p.Glu567=) rs146681416 0.00032
NM_000257.4(MYH7):c.4188G>A (p.Arg1396=) rs200852418 0.00032
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786 0.00032
NM_001103.4(ACTN2):c.2601C>T (p.Pro867=) rs147245615 0.00032
NM_001267550.2(TTN):c.72723C>G (p.Val24241=) rs372701206 0.00032
NM_001270508.2(TNFAIP3):c.295+8T>C rs370813134 0.00032
NM_001291303.3(FAT4):c.13206C>A (p.Gly4402=) rs200101519 0.00032
NM_003042.4(SLC6A1):c.6G>A (p.Ala2=) rs6343 0.00032
NM_003978.5(PSTPIP1):c.354+10G>A rs370745407 0.00032
NM_004006.3(DMD):c.5010G>T (p.Trp1670Cys) rs727503828 0.00032
NM_004356.4(CD81):c.288C>T (p.Thr96=) rs202086417 0.00032
NM_004972.4(JAK2):c.2488C>T (p.Leu830=) rs138340828 0.00032
NM_005629.4(SLC6A8):c.544G>A (p.Val182Met) rs149024147 0.00032
NM_006329.4(FBLN5):c.1341A>G (p.Pro447=) rs145296787 0.00032
NM_015335.5(MED13L):c.4697C>T (p.Ser1566Leu) rs113890513 0.00032
NM_020297.4(ABCC9):c.1887G>T (p.Glu629Asp) rs150036969 0.00032
NM_021072.4(HCN1):c.240C>A (p.Gly80=) rs373664268 0.00032
NM_153252.5(BRWD3):c.5101G>A (p.Gly1701Arg) rs200751676 0.00032
NM_000501.4(ELN):c.1884C>T (p.Ala628=) rs372315353 0.00031
NM_000501.4(ELN):c.1999C>T (p.Pro667Ser) rs142316834 0.00031
NM_000540.3(RYR1):c.8616+7G>A rs200023171 0.00031
NM_000587.4(C7):c.2350+2T>C rs201240159 0.00031
NM_001079872.2(CUL4B):c.792C>T (p.Ser264=) rs201566181 0.00031
NM_001110556.2(FLNA):c.1691+7C>A rs199565118 0.00031
NM_001134363.3(RBM20):c.3648C>T (p.Ser1216=) rs554167951 0.00031
NM_001148.6(ANK2):c.7488A>G (p.Thr2496=) rs143161930 0.00031
NM_001267550.2(TTN):c.78855T>C (p.Asp26285=) rs139953862 0.00031
NM_001267550.2(TTN):c.84640A>G (p.Met28214Val) rs72648221 0.00031
NM_001267550.2(TTN):c.93524G>A (p.Arg31175His) rs72648251 0.00031
NM_001360.3(DHCR7):c.126C>T (p.Ser42=) rs150928869 0.00031
NM_002163.4(IRF8):c.982T>G (p.Phe328Val) rs202046728 0.00031
NM_002335.4(LRP5):c.675C>T (p.Asp225=) rs138207107 0.00031
NM_002471.4(MYH6):c.5112G>A (p.Ala1704=) rs150450178 0.00031
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile) rs200018416 0.00031
NM_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn) rs150821246 0.00031
NM_005068.3(SIM1):c.1569T>C (p.His523=) rs138590764 0.00031
NM_006231.4(POLE):c.5173+17A>G rs368209692 0.00031
NM_006904.7(PRKDC):c.42G>A (p.Arg14=) rs564283387 0.00031
NM_014476.6(PDLIM3):c.169A>G (p.Thr57Ala) rs142951316 0.00031
NM_015102.5(NPHP4):c.2115T>C (p.Pro705=) rs200848754 0.00031
NM_015158.5(KANK1):c.565G>A (p.Gly189Ser) rs200751333 0.00031
NM_015570.4(AUTS2):c.581C>T (p.Ser194Phe) rs150765660 0.00031
NM_053025.4(MYLK):c.711C>T (p.Asn237=) rs149407805 0.00031
NM_182914.3(SYNE2):c.4910A>G (p.Tyr1637Cys) rs143578863 0.00031
NM_207361.6(FREM2):c.2432G>A (p.Gly811Glu) rs147293913 0.00031
NM_000092.5(COL4A4):c.3108T>C (p.Gly1036=) rs201962241 0.00030
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter) rs34295337 0.00030
NM_000258.3(MYL3):c.482-17C>T rs201289145 0.00030
NM_000335.5(SCN5A):c.1844G>A (p.Gly615Glu) rs12720452 0.00030
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) rs200787122 0.00030
NM_001267550.2(TTN):c.70097T>C (p.Val23366Ala) rs372782502 0.00030
NM_001267550.2(TTN):c.94863C>T (p.His31621=) rs373871146 0.00030
NM_002473.6(MYH9):c.4902C>T (p.Asp1634=) rs146184921 0.00030
NM_002691.4(POLD1):c.714G>A (p.Thr238=) rs149096523 0.00030
NM_003280.3(TNNC1):c.108C>A (p.Ile36=) rs202000367 0.00030
NM_020822.3(KCNT1):c.2166G>A (p.Leu722=) rs374347802 0.00030
NM_000186.4(CFH):c.3172T>C (p.Tyr1058His) rs55679475 0.00029
NM_000186.4(CFH):c.3178G>C (p.Val1060Leu) rs55771831 0.00029
NM_000335.5(SCN5A):c.3837+17G>A rs45466091 0.00029
NM_000359.3(TGM1):c.919C>G (p.Arg307Gly) rs121918731 0.00029
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_000492.4(CFTR):c.3558A>G (p.Gln1186=) rs1800121 0.00029
NM_001009944.3(PKD1):c.10221-14C>T rs201207354 0.00029
NM_001018005.2(TPM1):c.375-5T>C rs377061868 0.00029
NM_001018005.2(TPM1):c.563+313A>G rs144700226 0.00029
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) rs200053635 0.00029
NM_001110556.2(FLNA):c.5193G>A (p.Val1731=) rs201458268 0.00029
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330 0.00029
NM_001267550.2(TTN):c.74602A>G (p.Ile24868Val) rs72646898 0.00029
NM_003482.4(KMT2D):c.14202C>T (p.Asp4734=) rs200979074 0.00029
NM_004972.4(JAK2):c.1686C>T (p.Gly562=) rs143997706 0.00029
NM_007078.3(LDB3):c.1035C>T (p.Ile345=) rs121908336 0.00029
NM_014476.6(PDLIM3):c.195G>A (p.Ala65=) rs148570356 0.00029
NM_015631.6(TCTN3):c.889-8G>A rs374331871 0.00029
NM_017553.3(INO80):c.1833C>T (p.Phe611=) rs147454171 0.00029
NM_020297.4(ABCC9):c.1557G>A (p.Glu519=) rs143346402 0.00029
NM_024422.6(DSC2):c.1559T>C (p.Ile520Thr) rs561310777 0.00029
NM_024649.5(BBS1):c.1695+10G>A rs200276861 0.00029
NM_025114.4(CEP290):c.2991+1655A>G rs281865192 0.00029
NM_080473.5(GATA5):c.678C>T (p.Leu226=) rs139428354 0.00029
NM_199242.3(UNC13D):c.2830+7G>A rs201023196 0.00029
NM_000039.3(APOA1):c.327G>A (p.Glu109=) rs113733249 0.00028
NM_000093.5(COL5A1):c.3474+7C>T rs550497696 0.00028
NM_000156.6(GAMT):c.279C>T (p.Asp93=) rs144630886 0.00028
NM_000277.3(PAH):c.1066-11G>A rs5030855 0.00028
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868 0.00028
NM_001035.3(RYR2):c.10231-5C>T rs186326951 0.00028
NM_001110792.2(MECP2):c.813C>T (p.Ala271=) rs1042870 0.00028
NM_001267550.2(TTN):c.62572A>G (p.Thr20858Ala) rs200689750 0.00028
NM_001267550.2(TTN):c.75762G>T (p.Val25254=) rs374003257 0.00028
NM_004281.4(BAG3):c.771C>T (p.Pro257=) rs200212999 0.00028
NM_006790.3(MYOT):c.617G>A (p.Gly206Asp) rs151094883 0.00028
NM_053025.4(MYLK):c.5114+8G>A rs202229368 0.00028
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210 0.00027
NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg) rs199875457 0.00027
NM_000359.3(TGM1):c.877-2A>G rs142634031 0.00027
NM_000489.6(ATRX):c.1303A>G (p.Ile435Val) rs371580333 0.00027
NM_001105206.3(LAMA4):c.1158G>A (p.Glu386=) rs147894075 0.00027
NM_001105206.3(LAMA4):c.1614G>A (p.Ala538=) rs143587921 0.00027
NM_001242896.3(DEPDC5):c.363+6_363+7del rs748242785 0.00027
NM_001267550.2(TTN):c.57646A>G (p.Ile19216Val) rs374058726 0.00027
NM_001330260.2(SCN8A):c.4748T>C (p.Ile1583Thr) rs201458257 0.00027
NM_001394477.1(FCGR2B):c.646+7G>A rs377291694 0.00027
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_005334.3(HCFC1):c.4442C>T (p.Thr1481Met) rs199798029 0.00027
NM_007118.4(TRIO):c.7397C>T (p.Pro2466Leu) rs373471708 0.00027
NM_000059.4(BRCA2):c.516+14C>T rs182828913 0.00026
NM_000064.4(C3):c.4635C>T (p.Tyr1545=) rs189948635 0.00026
NM_000214.3(JAG1):c.414G>A (p.Ala138=) rs371682149 0.00026
NM_000215.4(JAK3):c.2235G>A (p.Pro745=) rs149207170 0.00026
NM_000379.4(XDH):c.704C>T (p.Thr235Met) rs45469499 0.00026
NM_000393.5(COL5A2):c.322+8T>C rs372227642 0.00026
NM_000393.5(COL5A2):c.75A>G (p.Lys25=) rs549894501 0.00026
NM_000532.5(PCCB):c.82C>G (p.Leu28Val) rs141137691 0.00026
NM_001035.3(RYR2):c.14757-19A>G rs190533014 0.00026
NM_001035.3(RYR2):c.8831-9A>C rs187977513 0.00026
NM_001244008.2(KIF1A):c.5168C>T (p.Ala1723Val) rs199804623 0.00026
NM_001267550.2(TTN):c.101925A>G (p.Leu33975=) rs201246720 0.00026
NM_001267550.2(TTN):c.98892C>T (p.Pro32964=) rs374081262 0.00026
NM_001378615.1(CC2D2A):c.4675-15G>A rs377573053 0.00026
NM_001458.5(FLNC):c.5367C>T (p.Ile1789=) rs377214486 0.00026
NM_001999.4(FBN2):c.1850-9C>T rs199937209 0.00026
NM_002227.4(JAK1):c.3258+7C>T rs371900175 0.00026
NM_003153.5(STAT6):c.135C>T (p.Ser45=) rs141476151 0.00026
NM_003331.5(TYK2):c.2670G>C (p.Thr890=) rs144332908 0.00026
NM_004260.4(RECQL4):c.3495C>T (p.His1165=) rs202083938 0.00026
NM_004370.6(COL12A1):c.8622A>G (p.Pro2874=) rs368321891 0.00026
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr) rs148147581 0.00026
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=) rs190878719 0.00026
NM_017617.5(NOTCH1):c.4407C>T (p.Asn1469=) rs202231073 0.00026
NM_017617.5(NOTCH1):c.5638+19A>G rs368675083 0.00026
NM_020774.4(MIB1):c.1830-18T>C rs201761957 0.00026
NM_020919.4(ALS2):c.1677A>G (p.Lys559=) rs367640165 0.00026
NM_024009.3(GJB3):c.264G>A (p.Ser88=) rs201469743 0.00026
NM_139058.3(ARX):c.1515A>G (p.Thr505=) rs398124509 0.00026
NM_152296.5(ATP1A3):c.1192+6C>T rs367771319 0.00026
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter) rs137853108 0.00026
NM_000089.4(COL1A2):c.2163C>T (p.Gly721=) rs150670521 0.00025
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met) rs200119454 0.00025
NM_000384.3(APOB):c.2817-19T>G rs72653069 0.00025
NM_000431.4(MVK):c.876C>T (p.Leu292=) rs370301290 0.00025
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_001243133.2(NLRP3):c.937A>G (p.Ile313Val) rs180177501 0.00025
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser) rs146057575 0.00025
NM_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro) rs201517720 0.00025
NM_001711.6(BGN):c.351+6G>A rs370838225 0.00025
NM_002661.5(PLCG2):c.1160A>C (p.Gln387Pro) rs201654184 0.00025
NM_003978.5(PSTPIP1):c.1151A>G (p.Asp384Gly) rs200771233 0.00025
NM_004006.3(DMD):c.9225-5795G>A rs138287985 0.00025
NM_004985.5(KRAS):c.24A>G (p.Val8=) rs147406419 0.00025
NM_018706.7(DHTKD1):c.33G>A (p.Arg11=) rs199768968 0.00025
NM_025074.7(FRAS1):c.3065A>C (p.Lys1022Thr) rs201252328 0.00025
NM_053025.4(MYLK):c.2253C>T (p.Thr751=) rs138777049 0.00025
NM_170707.4(LMNA):c.1634G>A (p.Arg545His) rs142191737 0.00025
NM_000256.3(MYBPC3):c.184A>C (p.Thr62Pro) rs377225516 0.00024
NM_000383.4(AIRE):c.1344C>T (p.His448=) rs201131119 0.00024
NM_001009944.3(PKD1):c.6882C>T (p.Leu2294=) rs758337073 0.00024
NM_001013838.3(CARMIL2):c.810G>A (p.Ala270=) rs368850534 0.00024
NM_001035.3(RYR2):c.10554+16T>C rs370288739 0.00024
NM_001103.4(ACTN2):c.2147C>T (p.Thr716Met) rs193922635 0.00024
NM_001126108.2(SLC12A3):c.2856+1G>T rs199974259 0.00024
NM_001127222.2(CACNA1A):c.7291G>A (p.Ala2431Thr) rs1052515747 0.00024
NM_001164508.2(NEB):c.3637G>A (p.Val1213Ile) rs202124287 0.00024
NM_001261826.3(AP3D1):c.2892G>A (p.Ala964=) rs367708267 0.00024
NM_001267550.2(TTN):c.1050C>T (p.Tyr350=) rs375448572 0.00024
NM_001267550.2(TTN):c.35875+8T>G rs192408585 0.00024
NM_001267550.2(TTN):c.37120+16G>A rs1392731996 0.00024
NM_001267550.2(TTN):c.90624T>C (p.Asn30208=) rs370479059 0.00024
NM_001375808.2(LPIN2):c.1168+6C>T rs200130790 0.00024
NM_001378156.1(C1QB):c.426C>T (p.His142=) rs376737563 0.00024
NM_001558.4(IL10RA):c.883C>T (p.Pro295Ser) rs201777547 0.00024
NM_002294.3(LAMP2):c.741+11C>T rs149155417 0.00024
NM_002471.4(MYH6):c.2685+10C>T rs202155137 0.00024
NM_002474.3(MYH11):c.2802G>A (p.Glu934=) rs138977949 0.00024
NM_004281.4(BAG3):c.1240G>A (p.Glu414Lys) rs117749531 0.00024
NM_004484.4(GPC3):c.876T>C (p.Ile292=) rs61754633 0.00024
NM_004667.6(HERC2):c.10021C>T (p.Gln3341Ter) rs371406398 0.00024
NM_004963.4(GUCY2C):c.138C>T (p.Ala46=) rs373943895 0.00024
NM_005585.5(SMAD6):c.1260C>T (p.Pro420=) rs371930288 0.00024
NM_005609.4(PYGM):c.729C>T (p.Arg243=) rs151160016 0.00024
NM_006949.4(STXBP2):c.1247-1G>C rs140148806 0.00024
NM_007074.4(CORO1A):c.1146T>C (p.Gly382=) rs201734831 0.00024
NM_007294.4(BRCA1):c.5075-107A>G rs560197308 0.00024
NM_007294.4(BRCA1):c.528G>A (p.Thr176=) rs34545365 0.00024
NM_007315.4(STAT1):c.1248C>G (p.Gly416=) rs140787216 0.00024
NM_013275.6(ANKRD11):c.2373G>A (p.Lys791=) rs138267414 0.00024
NM_015102.5(NPHP4):c.3175G>A (p.Ala1059Thr) rs202004152 0.00024
NM_015991.4(C1QA):c.581A>C (p.Asn194Thr) rs201816009 0.00024
NM_016599.5(MYOZ2):c.39G>A (p.Gln13=) rs145688699 0.00024
NM_020458.4(TTC7A):c.1449G>A (p.Gly483=) rs142810509 0.00024
NM_024422.6(DSC2):c.1520+8C>G rs372979057 0.00024
NM_030653.4(DDX11):c.1763-1G>C rs148856317 0.00024
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_058216.3(RAD51C):c.145+12T>G rs377297129 0.00024
NM_153033.5(KCTD7):c.687T>C (p.Asp229=) rs372150992 0.00024
NM_171998.4(RAB39B):c.543A>G (p.Thr181=) rs369970931 0.00024
NM_198253.3(TERT):c.1138C>T (p.Pro380Ser) rs144756946 0.00024
NM_000206.3(IL2RG):c.78A>T (p.Thr26=) rs147424359 0.00023
NM_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788 0.00023
NM_001110556.2(FLNA):c.3872C>T (p.Pro1291Leu) rs137853319 0.00023
NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys) rs200524526 0.00023
NM_001127222.2(CACNA1A):c.4311G>A (p.Lys1437=) rs572036869 0.00023
NM_001145252.3(CFP):c.663C>T (p.Ser221=) rs367635632 0.00023
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter) rs575822089 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.98726T>C (p.Val32909Ala) rs368877793 0.00023
NM_002661.5(PLCG2):c.2658G>A (p.Val886=) rs549242688 0.00023
NM_003611.3(OFD1):c.2260+12G>A rs375507459 0.00023
NM_004006.3(DMD):c.2386G>A (p.Val796Ile) rs139726281 0.00023
NM_004946.3(DOCK2):c.1896G>A (p.Glu632=) rs771194180 0.00023
NM_005051.3(QARS1):c.1388+7G>A rs201234869 0.00023
NM_005245.4(FAT1):c.13158A>C (p.Ser4386=) rs201618936 0.00023
NM_005629.4(SLC6A8):c.1890G>C (p.Val630=) rs376385129 0.00023
NM_005911.6(MAT2A):c.831T>C (p.His277=) rs144914741 0.00023
NM_080646.2(TBX1):c.1095A>G (p.Ala365=) rs147647675 0.00023
NM_152296.5(ATP1A3):c.1193-4C>G rs200111818 0.00023
NM_153704.6(TMEM67):c.1379G>C (p.Arg460Thr) rs375991767 0.00023
NM_000062.3(SERPING1):c.686-5C>G rs28362952 0.00022
NM_000238.4(KCNH2):c.2941A>G (p.Ser981Gly) rs76649554 0.00022
NM_000243.3(MEFV):c.1760-28T>A rs104895169 0.00022
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849 0.00022
NM_000487.6(ARSA):c.982G>A (p.Val328Met) rs143994992 0.00022
NM_001105206.3(LAMA4):c.456T>A (p.Ala152=) rs149106800 0.00022
NM_001267550.2(TTN):c.99991T>C (p.Cys33331Arg) rs56061641 0.00022
NM_001330260.2(SCN8A):c.5601G>A (p.Gln1867=) rs368449473 0.00022
NM_001378615.1(CC2D2A):c.3480G>T (p.Leu1160=) rs771914973 0.00022
NM_002471.4(MYH6):c.4137G>A (p.Thr1379=) rs372158844 0.00022
NM_002471.4(MYH6):c.4594C>T (p.Arg1532Cys) rs201827489 0.00022
NM_006393.3(NEBL):c.2964C>T (p.Asp988=) rs144946187 0.00022
NM_014467.3(SRPX2):c.693C>A (p.His231Gln) rs142719253 0.00022
NM_014795.4(ZEB2):c.304A>T (p.Ile102Phe) rs201109457 0.00022
NM_017777.4(MKS1):c.644+8G>T rs370117125 0.00022
NM_020207.7(ERCC6L2):c.1930C>T (p.Arg644Ter) rs147948835 0.00022
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334 0.00022
NM_025099.6(CTC1):c.3515-10C>T rs200225342 0.00022
NM_053025.4(MYLK):c.5477C>T (p.Ala1826Val) rs147187907 0.00022
NM_153460.4(IL17RC):c.909C>T (p.Ala303=) rs370054868 0.00022
NM_000081.4(LYST):c.4006+8G>A rs369153654 0.00021
NM_000138.5(FBN1):c.1027G>A (p.Gly343Arg) rs146726731 0.00021
NM_000548.5(TSC2):c.2427C>T (p.Ser809=) rs182849638 0.00021
NM_001035.3(RYR2):c.1005+13A>G rs552027921 0.00021
NM_001037.5(SCN1B):c.348G>A (p.Ser116=) rs375050816 0.00021
NM_001110792.2(MECP2):c.1020C>T (p.Leu340=) rs61751442 0.00021
NM_001184880.2(PCDH19):c.1725C>T (p.Val575=) rs200471732 0.00021
NM_001267550.2(TTN):c.101055T>C (p.Asp33685=) rs372788551 0.00021
NM_001267550.2(TTN):c.55306G>A (p.Glu18436Lys) rs201510986 0.00021
NM_001267550.2(TTN):c.62280T>C (p.Val20760=) rs372065796 0.00021
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr) rs200766837 0.00021
NM_001365276.2(TNXB):c.1671C>T (p.Arg557=) rs367731133 0.00021
NM_001369369.1(FOXN1):c.1932C>T (p.Pro644=) rs199499942 0.00021
NM_001370466.1(NOD2):c.1036C>T (p.Arg346Cys) rs145293873 0.00021
NM_002474.3(MYH11):c.217A>C (p.Lys73Gln) rs147447269 0.00021
NM_002972.4(SBF1):c.3294G>A (p.Glu1098=) rs373108686 0.00021
NM_004100.5(EYA4):c.987G>T (p.Met329Ile) rs146144708 0.00021
NM_006846.4(SPINK5):c.2419T>G (p.Cys807Gly) rs201815688 0.00021
NM_014425.5(INVS):c.67G>A (p.Val23Ile) rs145303373 0.00021
NM_017553.3(INO80):c.159T>C (p.Asp53=) rs147465346 0.00021
NM_017617.5(NOTCH1):c.2970-9C>T rs568052902 0.00021
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=) rs61743849 0.00021
NM_021167.5(GATAD1):c.48G>A (p.Ser16=) rs376686657 0.00021
NM_138295.5(PKD1L1):c.7795A>G (p.Met2599Val) rs140233929 0.00021
NM_139058.3(ARX):c.558G>T (p.Pro186=) rs748764628 0.00021
NM_170707.4(LMNA):c.1017G>A (p.Ala339=) rs17847242 0.00021
NM_174934.4(SCN4B):c.18C>A (p.Asp6Glu) rs149979176 0.00021
NR_028089.1(NXF5):n.775A>G rs141000813 0.00021
NM_000117.3(EMD):c.428C>T (p.Ser143Phe) rs139983160 0.00020
NM_000393.5(COL5A2):c.2338-6T>C rs375291199 0.00020
NM_000489.6(ATRX):c.2720G>A (p.Arg907Gln) rs143413618 0.00020
NM_001164508.2(NEB):c.10608C>T (p.Gly3536=) rs144673752 0.00020
NM_001267550.2(TTN):c.30389G>A (p.Arg10130His) rs373355159 0.00020
NM_001267550.2(TTN):c.80555G>A (p.Arg26852His) rs202149931 0.00020
NM_001291867.2(NHS):c.4937C>T (p.Ser1646Phe) rs374462247 0.00020
NM_001376.5(DYNC1H1):c.13808G>T (p.Ser4603Ile) rs200731839 0.00020
NM_001386795.1(DTNA):c.126G>A (p.Arg42=) rs376001633 0.00020
NM_004356.4(CD81):c.126C>G (p.Thr42=) rs370819047 0.00020
NM_004972.4(JAK2):c.143G>A (p.Gly48Glu) rs143227399 0.00020
NM_015967.8(PTPN22):c.1701G>A (p.Leu567=) rs190093444 0.00020
NM_021625.5(TRPV4):c.1584+13C>T rs199712027 0.00020
NM_025114.4(CEP290):c.1729C>T (p.Leu577=) rs201295052 0.00020
NM_053025.4(MYLK):c.1310-20T>C rs375101899 0.00020
NM_144997.7(FLCN):c.396+4A>G rs370353839 0.00020
NM_152424.4(AMER1):c.790G>A (p.Ala264Thr) rs150929706 0.00020
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475 0.00019
NM_000051.4(ATM):c.4980C>T (p.Asn1660=) rs144338238 0.00019
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550 0.00019
NM_000138.5(FBN1):c.6705A>C (p.Gly2235=) rs2229326 0.00019
NM_000256.3(MYBPC3):c.2684G>A (p.Arg895His) rs372628478 0.00019
NM_001035.3(RYR2):c.3024G>A (p.Ala1008=) rs566157997 0.00019
NM_001105206.3(LAMA4):c.668G>A (p.Arg223His) rs200017155 0.00019
NM_001111125.3(IQSEC2):c.3735C>T (p.His1245=) rs797045630 0.00019
NM_001127222.2(CACNA1A):c.2955G>C (p.Pro985=) rs749357610 0.00019
NM_001165963.4(SCN1A):c.694+10A>G rs373417440 0.00019
NM_001267550.2(TTN):c.100447G>C (p.Glu33483Gln) rs368321767 0.00019
NM_001267550.2(TTN):c.52826A>T (p.Gln17609Leu) rs368820294 0.00019
NM_001267550.2(TTN):c.70644C>T (p.Thr23548=) rs148210834 0.00019
NM_001271.4(CHD2):c.4278+5T>C rs202174434 0.00019
NM_001330078.2(NRXN1):c.3129A>G (p.Val1043=) rs200698497 0.00019
NM_001365536.1(SCN9A):c.129T>C (p.Asp43=) rs200826539 0.00019
NM_001386795.1(DTNA):c.1918T>C (p.Leu640=) rs372620035 0.00019
NM_001458.5(FLNC):c.1924G>A (p.Val642Ile) rs369387744 0.00019
NM_002471.4(MYH6):c.2841C>T (p.Asp947=) rs140305424 0.00019
NM_003482.4(KMT2D):c.8068C>T (p.Leu2690=) rs370846697 0.00019
NM_003737.4(DCHS1):c.4553G>A (p.Arg1518Gln) rs753287108 0.00019
NM_004415.4(DSP):c.1344G>A (p.Leu448=) rs138226280 0.00019
NM_004484.4(GPC3):c.889A>G (p.Arg297Gly) rs148951753 0.00019
NM_004595.5(SMS):c.171C>T (p.Ser57=) rs201558273 0.00019
NM_004715.5(CTDP1):c.351G>A (p.Pro117=) rs139441883 0.00019
NM_004985.5(KRAS):c.451-5535A>C rs201170656 0.00019
NM_004991.4(MECOM):c.180G>A (p.Glu60=) rs188488402 0.00019
NM_005957.5(MTHFR):c.870C>T (p.Asn290=) rs141769179 0.00019
NM_006019.4(TCIRG1):c.1674-1G>A rs139617644 0.00019
NM_007294.4(BRCA1):c.4484+14A>G rs80358022 0.00019
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087 0.00019
NM_014000.3(VCL):c.590C>T (p.Thr197Ile) rs189242810 0.00019
NM_014467.3(SRPX2):c.449C>T (p.Ser150Phe) rs373847965 0.00019
NM_015102.5(NPHP4):c.1120-13G>T rs192450719 0.00019
NM_015450.3(POT1):c.64A>G (p.Ile22Val) rs375440229 0.00019
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=) rs397517263 0.00019
NM_022168.4(IFIH1):c.2682G>A (p.Lys894=) rs374488772 0.00019
NM_024426.6(WT1):c.193G>A (p.Gly65Arg) rs374404615 0.00019
NM_030787.4(CFHR5):c.880G>A (p.Glu294Lys) rs201084185 0.00019
NM_030930.4(UNC93B1):c.1449C>T (p.Phe483=) rs371738908 0.00019
NM_145239.3(PRRT2):c.225G>A (p.Pro75=) rs199662641 0.00019
NM_178170.3(NEK8):c.294C>G (p.Ser98=) rs140255077 0.00019
NM_198282.4(STING1):c.575G>T (p.Gly192Val) rs201096097 0.00019
NM_000238.4(KCNH2):c.1128+1811G>A rs41313083 0.00018
NM_000431.4(MVK):c.803T>C (p.Ile268Thr) rs104895304 0.00018
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe) rs72552778 0.00018
NM_001009944.3(PKD1):c.10168-8C>T rs199808929 0.00018
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro) rs121909379 0.00018
NM_001148.6(ANK2):c.6633C>T (p.Ala2211=) rs143516811 0.00018
NM_001267550.2(TTN):c.14232C>A (p.Asp4744Glu) rs55906845 0.00018
NM_001267550.2(TTN):c.63439G>A (p.Ala21147Thr) rs72646853 0.00018
NM_001267550.2(TTN):c.96234C>T (p.Tyr32078=) rs376532382 0.00018
NM_001267550.2(TTN):c.96252A>G (p.Thr32084=) rs369626133 0.00018
NM_001282225.2(ADA2):c.973-2A>G rs139750129 0.00018
NM_001365536.1(SCN9A):c.2344-20A>T rs199905079 0.00018
NM_001366385.1(CARD14):c.2476C>T (p.Arg826Trp) rs139467141 0.00018
NM_001371415.1(ACE2):c.1840G>T (p.Ala614Ser) rs201715513 0.00018
NM_001458.5(FLNC):c.6720G>A (p.Gln2240=) rs371391208 0.00018
NM_002230.4(JUP):c.426C>T (p.Arg142=) rs142599474 0.00018
NM_003239.5(TGFB3):c.412T>G (p.Ser138Ala) rs201453600 0.00018
NM_006393.3(NEBL):c.2307T>C (p.Ala769=) rs144815863 0.00018
NM_007294.4(BRCA1):c.5406+33A>T rs80358092 0.00018
NM_014000.3(VCL):c.81C>T (p.His27=) rs200733607 0.00018
NM_015141.4(GPD1L):c.247G>A (p.Glu83Lys) rs72552292 0.00018
NM_015158.5(KANK1):c.2686G>C (p.Gly896Arg) rs180806437 0.00018
NM_024570.4(RNASEH2B):c.64+8C>T rs957777357 0.00018
NM_207111.4(RNF216):c.2544C>T (p.Asn848=) rs149012430 0.00018
NM_000169.3(GLA):c.123C>T (p.Thr41=) rs137902198 0.00017
NM_000335.5(SCN5A):c.4810+24G>A rs45440596 0.00017
NM_000371.4(TTR):c.14G>A (p.Arg5His) rs138657343 0.00017
NM_001009944.3(PKD1):c.8689G>A (p.Val2897Ile) rs145532417 0.00017
NM_001110792.2(MECP2):c.621C>T (p.Gly207=) rs61749712 0.00017
NM_001267550.2(TTN):c.54148C>T (p.Arg18050Cys) rs55734111 0.00017
NM_001267550.2(TTN):c.65575+10T>C rs72646864 0.00017
NM_001267550.2(TTN):c.687T>C (p.Phe229=) rs376527094 0.00017
NM_001267550.2(TTN):c.81892G>A (p.Asp27298Asn) rs200697681 0.00017
NM_001421.4(ELF4):c.1144G>A (p.Val382Ile) rs148953158 0.00017
NM_001458.5(FLNC):c.6888C>T (p.His2296=) rs375259002 0.00017
NM_001943.5(DSG2):c.1851C>T (p.Leu617=) rs202057770 0.00017
NM_002474.3(MYH11):c.3531G>A (p.Thr1177=) rs149980738 0.00017
NM_002547.3(OPHN1):c.2362C>T (p.Arg788Trp) rs148208753 0.00017
NM_004415.4(DSP):c.2121C>T (p.Asn707=) rs368590198 0.00017
NM_017617.5(NOTCH1):c.4095C>T (p.Ser1365=) rs202023240 0.00017
NM_032119.4(ADGRV1):c.13382A>G (p.His4461Arg) rs182698253 0.00017
NM_130837.3(OPA1):c.70A>G (p.Ile24Val) rs201520438 0.00017
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851 0.00017
NM_198282.4(STING1):c.61G>A (p.Ala21Thr) rs140011636 0.00017
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg) rs200287952 0.00016
NM_000122.2(ERCC3):c.417C>T (p.Tyr139=) rs529637184 0.00016
NM_000243.3(MEFV):c.1016C>T (p.Ser339Phe) rs104895157 0.00016
NM_000257.4(MYH7):c.3727-18C>T rs369549958 0.00016
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln) rs200476861 0.00016
NM_000492.4(CFTR):c.2502T>G (p.Phe834Leu) rs200735475 0.00016
NM_001035.3(RYR2):c.2267G>A (p.Ser756Asn) rs193922623 0.00016
NM_001040151.2(SCN3B):c.583G>A (p.Ala195Thr) rs375755770 0.00016
NM_001134363.3(RBM20):c.1455A>G (p.Ser485=) rs751559376 0.00016
NM_001165963.4(SCN1A):c.1378-3T>C rs150964803 0.00016
NM_001267550.2(TTN):c.62994C>T (p.Tyr20998=) rs375006117 0.00016
NM_001267550.2(TTN):c.85443A>G (p.Ala28481=) rs373326137 0.00016
NM_001289125.3(IFNAR2):c.1315G>A (p.Asp439Asn) rs149040664 0.00016
NM_001365999.1(SZT2):c.7224C>T (p.Asn2408=) rs373992628 0.00016
NM_001365999.1(SZT2):c.8316G>A (p.Thr2772=) rs532810601 0.00016
NM_001458.5(FLNC):c.1166G>A (p.Gly389Asp) rs763039506 0.00016
NM_001458.5(FLNC):c.1923C>T (p.His641=) rs375361259 0.00016
NM_001458.5(FLNC):c.4153C>T (p.Leu1385=) rs202125701 0.00016
NM_001458.5(FLNC):c.4763C>G (p.Ala1588Gly) rs148545460 0.00016
NM_001458.5(FLNC):c.96G>A (p.Ala32=) rs368239688 0.00016
NM_001943.5(DSG2):c.1912G>A (p.Gly638Arg) rs201564919 0.00016
NM_002049.4(GATA1):c.163G>A (p.Ala55Thr) rs150572851 0.00016
NM_002471.4(MYH6):c.5293G>A (p.Ala1765Thr) rs397516775 0.00016
NM_003172.4(SURF1):c.745A>G (p.Asn249Asp) rs587669420 0.00016
NM_004172.5(SLC1A3):c.1425-8G>C rs202233020 0.00016
NM_004281.4(BAG3):c.1588G>A (p.Val530Met) rs144678100 0.00016
NM_005045.4(RELN):c.2376T>C (p.Gly792=) rs398124191 0.00016
NM_005902.4(SMAD3):c.984G>A (p.Pro328=) rs150994304 0.00016
NM_006393.3(NEBL):c.2775C>T (p.Pro925=) rs199887353 0.00016
NM_006516.4(SLC2A1):c.972+7del rs531385270 0.00016
NM_007294.4(BRCA1):c.81-65G>C rs80358117 0.00016
NM_014000.3(VCL):c.1842G>A (p.Thr614=) rs144117013 0.00016
NM_014476.6(PDLIM3):c.697G>C (p.Val233Leu) rs143121072 0.00016
NM_017617.5(NOTCH1):c.3288G>C (p.Val1096=) rs374944458 0.00016
NM_020297.4(ABCC9):c.4062G>A (p.Ser1354=) rs145005748 0.00016
NM_020822.3(KCNT1):c.2220C>G (p.Asp740Glu) rs148162797 0.00016
NM_024422.6(DSC2):c.2509-153_2509-152del rs372836109 0.00016
NM_053025.4(MYLK):c.4293G>A (p.Pro1431=) rs370153686 0.00016
NM_144573.4(NEXN):c.865-17A>G rs201771600 0.00016
NM_144573.4(NEXN):c.893C>G (p.Thr298Arg) rs200753280 0.00016
NM_147191.1(MMP21):c.1372C>T (p.Arg458Ter) rs145119918 0.00016
NM_170707.4(LMNA):c.1656C>T (p.Asp552=) rs370219874 0.00016
NM_000059.4(BRCA2):c.517-89G>A rs570584580 0.00015
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr) rs199472676 0.00015
NM_000243.3(MEFV):c.1518C>T (p.Ile506=) rs104895099 0.00015
NM_000371.4(TTR):c.384C>T (p.Ala128=) rs143906738 0.00015
NM_000501.4(ELN):c.232+3G>A rs377172364 0.00015
NM_001015877.2(PHF6):c.241-13C>T rs375674521 0.00015
NM_001018005.2(TPM1):c.115-316G>A rs397516491 0.00015
NM_001042432.2(CLN3):c.677+8G>A rs368568189 0.00015
NM_001370259.2(MEN1):c.1508G>A (p.Gly503Asp) rs375804228 0.00015
NM_001458.5(FLNC):c.3153G>A (p.Pro1051=) rs373694043 0.00015
NM_001458.5(FLNC):c.7136-6C>A rs368292177 0.00015
NM_001849.4(COL6A2):c.2331C>T (p.Cys777=) rs181711180 0.00015
NM_002230.4(JUP):c.2086+13C>T rs199935213 0.00015
NM_002294.3(LAMP2):c.73C>T (p.Arg25Trp) rs730880478 0.00015
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His) rs267606904 0.00015
NM_002471.4(MYH6):c.3732+13C>T rs369889994 0.00015
NM_002474.3(MYH11):c.3766A>C (p.Lys1256Gln) rs149241435 0.00015
NM_004006.3(DMD):c.9486G>A (p.Glu3162=) rs370724251 0.00015
NM_004341.5(CAD):c.246C>T (p.His82=) rs146668657 0.00015
NM_005334.3(HCFC1):c.2289C>T (p.Pro763=) rs200081632 0.00015
NM_017617.5(NOTCH1):c.2353+14G>A rs140288481 0.00015
NM_017780.4(CHD7):c.6513C>T (p.Ala2171=) rs376020564 0.00015
NM_000204.5(CFI):c.905-3T>C rs377535161 0.00014
NM_000256.3(MYBPC3):c.654+17C>T rs369864892 0.00014
NM_000277.3(PAH):c.1042C>G (p.Leu348Val) rs62516092 0.00014
NM_000540.3(RYR1):c.641C>T (p.Thr214Met) rs727504129 0.00014
NM_001001548.3(CD36):c.1215G>A (p.Leu405=) rs201929460 0.00014
NM_001018005.2(TPM1):c.114+14C>T rs576659891 0.00014
NM_001035.3(RYR2):c.10523T>C (p.Ile3508Thr) rs115622575 0.00014
NM_001035.3(RYR2):c.1476+4C>T rs369442980 0.00014
NM_001035.3(RYR2):c.3152G>A (p.Arg1051His) rs79457258 0.00014
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu) rs140012781 0.00014
NM_001130144.3(LTBP3):c.3408C>T (p.Asp1136=) rs779288121 0.00014
NM_001139.3(ALOX12B):c.1562A>G (p.Tyr521Cys) rs199766569 0.00014
NM_001267550.2(TTN):c.102561C>T (p.Tyr34187=) rs375625664 0.00014
NM_001330260.2(SCN8A):c.2586C>T (p.Asn862=) rs377396450 0.00014
NM_001458.5(FLNC):c.6594C>T (p.Gly2198=) rs754112206 0.00014
NM_002661.5(PLCG2):c.688C>T (p.Leu230=) rs373962897 0.00014
NM_003238.6(TGFB2):c.347-14C>G rs371982231 0.00014
NM_004006.3(DMD):c.3816G>C (p.Leu1272Phe) rs760733415 0.00014
NM_004006.3(DMD):c.7151C>A (p.Ser2384Tyr) rs185706283 0.00014
NM_004484.4(GPC3):c.172C>T (p.Pro58Ser) rs147231796 0.00014
NM_005428.4(VAV1):c.927+7G>A rs373764318 0.00014
NM_013275.6(ANKRD11):c.4235T>C (p.Ile1412Thr) rs578198369 0.00014
NM_014874.4(MFN2):c.870C>T (p.Gly290=) rs368302487 0.00014
NM_015272.5(RPGRIP1L):c.530-15T>C rs368728064 0.00014
NM_015311.3(OBSL1):c.4745G>A (p.Gly1582Glu) rs201690766 0.00014
NM_017617.5(NOTCH1):c.1670-19C>T rs377686947 0.00014
NM_017777.4(MKS1):c.417G>A (p.Glu139=) rs386834048 0.00014
NM_022114.4(PRDM16):c.3406G>A (p.Gly1136Arg) rs775245244 0.00014
NM_024334.3(TMEM43):c.864C>T (p.His288=) rs377585035 0.00014
NM_033004.4(NLRP1):c.2341C>A (p.Pro781Thr) rs201368394 0.00014
NM_053025.4(MYLK):c.2919G>A (p.Pro973=) rs149482336 0.00014
NM_152424.4(AMER1):c.1802G>A (p.Arg601Gln) rs149865410 0.00014
NM_170784.3(MKKS):c.1553G>A (p.Arg518His) rs149051148 0.00014
NM_182961.4(SYNE1):c.19026C>T (p.Asp6342=) rs370053768 0.00014
NM_000138.5(FBN1):c.8232G>A (p.Gln2744=) rs376119827 0.00013
NM_000257.4(MYH7):c.2526T>C (p.Ser842=) rs554560162 0.00013
NM_000302.4(PLOD1):c.303C>T (p.Ser101=) rs147980436 0.00013
NM_000384.3(APOB):c.13302C>T (p.Ser4434=) rs144040999 0.00013
NM_000431.4(MVK):c.877G>A (p.Val293Met) rs104895356 0.00013
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279 0.00013
NM_001110556.2(FLNA):c.6350A>G (p.Asn2117Ser) rs375205247 0.00013
NM_001112741.2(KCNC1):c.683G>T (p.Arg228Leu) rs200873319 0.00013
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg) rs121907899 0.00013
NM_001134407.3(GRIN2A):c.819A>G (p.Pro273=) rs148085725 0.00013
NM_001270508.2(TNFAIP3):c.619A>C (p.Ile207Leu) rs141807543 0.00013
NM_001365276.2(TNXB):c.2981G>A (p.Arg994His) rs372167278 0.00013
NM_001365999.1(SZT2):c.327+7G>T rs201252901 0.00013
NM_001366722.1(GRIP1):c.3048T>C (p.Phe1016=) rs372970620 0.00013
NM_001379081.2(FREM1):c.3971T>G (p.Leu1324Arg) rs281875281 0.00013
NM_001458.5(FLNC):c.3090C>T (p.Pro1030=) rs760926290 0.00013
NM_001458.5(FLNC):c.600C>T (p.Pro200=) rs202105410 0.00013
NM_001943.5(DSG2):c.148G>A (p.Ala50Thr) rs1267795586 0.00013
NM_002230.4(JUP):c.1365C>T (p.Ala455=) rs77375949 0.00013
NM_002471.4(MYH6):c.1252G>A (p.Val418Met) rs147606900 0.00013
NM_002968.3(SALL1):c.235G>C (p.Ala79Pro) rs536108231 0.00013
NM_003588.4(CUL4B):c.26G>A (p.Gly9Glu) rs149016283 0.00013
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu) rs146251034 0.00013
NM_003640.5(ELP1):c.3222+14C>T rs374787755 0.00013
NM_003923.3(FOXH1):c.410G>C (p.Arg137Pro) rs748316496 0.00013
NM_004006.3(DMD):c.8027+7A>T rs72466580 0.00013
NM_004380.3(CREBBP):c.4280+8T>C rs376814421 0.00013
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter) rs13447324 0.00013
NM_005912.2(MC4R):c.110A>T (p.Asp37Val) rs13447325 0.00013
NM_007078.3(LDB3):c.1956C>T (p.Asp652=) rs139213290 0.00013
NM_014927.5(CNKSR2):c.1677C>T (p.Ser559=) rs371945192 0.00013
NM_015559.3(SETBP1):c.927C>T (p.Asn309=) rs199603131 0.00013
NM_017636.4(TRPM4):c.24+6C>G rs767900879 0.00013
NM_017649.5(CNNM2):c.804G>T (p.Leu268=) rs148386496 0.00013
NM_021628.3(ALOXE3):c.700C>T (p.Arg234Ter) rs121434233 0.00013
NM_024577.4(SH3TC2):c.2582G>A (p.Arg861Gln) rs142971473 0.00013
NM_139276.3(STAT3):c.1143C>G (p.Ser381=) rs143571879 0.00013
NM_182961.4(SYNE1):c.20070G>C (p.Thr6690=) rs141263831 0.00013
NM_000219.6(KCNE1):c.162C>T (p.Phe54=) rs17173508 0.00012
NM_000243.3(MEFV):c.2080A>G (p.Met694Val) rs61752717 0.00012
NM_000257.4(MYH7):c.4953+17G>A rs376604168 0.00012
NM_000384.3(APOB):c.288G>T (p.Gln96His) rs186544754 0.00012
NM_001008537.3(NEXMIF):c.3823A>G (p.Ser1275Gly) rs201434271 0.00012
NM_001099922.3(ALG13):c.2685C>T (p.His895=) rs374572450 0.00012
NM_001106.4(ACVR2B):c.6G>C (p.Thr2=) rs890359144 0.00012
NM_001111.5(ADAR):c.1935-20C>T rs17843867 0.00012
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=) rs201236364 0.00012
NM_001148.6(ANK2):c.8903T>C (p.Val2968Ala) rs751095004 0.00012
NM_001195553.2(DCX):c.429T>C (p.Asn143=) rs761104151 0.00012
NM_001197104.2(KMT2A):c.4086+8G>C rs200865931 0.00012
NM_001267550.2(TTN):c.77052C>T (p.Gly25684=) rs372543652 0.00012
NM_001267550.2(TTN):c.82688G>A (p.Arg27563His) rs118079537 0.00012
NM_001458.5(FLNC):c.1568T>C (p.Val523Ala) rs182845462 0.00012
NM_001458.5(FLNC):c.1608G>A (p.Glu536=) rs549086803 0.00012
NM_001458.5(FLNC):c.5127C>T (p.Pro1709=) rs540345016 0.00012
NM_001737.5(C9):c.1345G>A (p.Val449Met) rs374259433 0.00012
NM_001999.4(FBN2):c.2625T>C (p.Cys875=) rs371502563 0.00012
NM_002335.4(LRP5):c.2175T>C (p.Val725=) rs200570645 0.00012
NM_005477.3(HCN4):c.621C>G (p.Arg207=) rs727503958 0.00012
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187 0.00012
NM_013266.4(CTNNA3):c.832G>A (p.Asp278Asn) rs143693772 0.00012
NM_014846.4(WASHC5):c.1217A>G (p.Asn406Ser) rs200456170 0.00012
NM_017617.5(NOTCH1):c.2805C>T (p.Pro935=) rs200332386 0.00012
NM_145046.5(CALR3):c.403G>A (p.Asp135Asn) rs143932873 0.00012
NM_000059.4(BRCA2):c.9256+58A>T rs777427197 0.00011
NM_000081.4(LYST):c.6432A>G (p.Ser2144=) rs145080654 0.00011
NM_000091.5(COL4A3):c.3644G>A (p.Arg1215Gln) rs200443942 0.00011
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp) rs577618553 0.00011
NM_000151.4(G6PC1):c.910G>A (p.Val304Ile) rs768385469 0.00011
NM_000169.3(GLA):c.48T>G (p.Leu16=) rs201449986 0.00011
NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=) rs370676650 0.00011
NM_000229.2(LCAT):c.879C>T (p.Pro293=) rs200225997 0.00011
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile) rs104895081 0.00011
NM_000256.3(MYBPC3):c.1467C>T (p.Asp489=) rs35690719 0.00011
NM_000335.5(SCN5A):c.1152C>T (p.Ser384=) rs372970828 0.00011
NM_000383.4(AIRE):c.705G>A (p.Lys235=) rs145255118 0.00011
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys) rs118192172 0.00011
NM_000722.4(CACNA2D1):c.1648G>T (p.Asp550Tyr) rs542692632 0.00011
NM_001009944.3(PKD1):c.3525G>A (p.Pro1175=) rs375443604 0.00011
NM_001009944.3(PKD1):c.7605C>T (p.Tyr2535=) rs146363575 0.00011
NM_001032283.3(TMPO):c.949A>T (p.Ile317Leu) rs368800243 0.00011
NM_001032382.2(PQBP1):c.585C>T (p.Ser195=) rs149688357 0.00011
NM_001103.4(ACTN2):c.1974+10C>T rs368354944 0.00011
NM_001110556.2(FLNA):c.1828+3A>G rs368041880 0.00011
NM_001126108.2(SLC12A3):c.961C>T (p.Arg321Trp) rs150046661 0.00011
NM_001130438.3(SPTAN1):c.5044-4C>T rs749484552 0.00011
NM_001134363.3(RBM20):c.1275+8G>T rs727505318 0.00011
NM_001148.6(ANK2):c.4287A>G (p.Ser1429=) rs72556369 0.00011
NM_001191061.2(SLC25A22):c.834C>T (p.His278=) rs187824231 0.00011
NM_001232.4(CASQ2):c.540G>A (p.Lys180=) rs72554057 0.00011
NM_001267550.2(TTN):c.1449C>T (p.Ala483=) rs141617218 0.00011
NM_001267550.2(TTN):c.18379T>G (p.Cys6127Gly) rs370812788 0.00011
NM_001267550.2(TTN):c.22091G>A (p.Arg7364Gln) rs200128066 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.70651C>T (p.Leu23551=) rs72646889 0.00011
NM_001267550.2(TTN):c.80554C>T (p.Arg26852Cys) rs185887755 0.00011
NM_001267550.2(TTN):c.93255G>A (p.Pro31085=) rs372611171 0.00011
NM_001291867.2(NHS):c.566-5T>C rs760065199 0.00011
NM_001372044.2(SHANK3):c.3959C>T (p.Ala1320Val) rs552332994 0.00011
NM_001375808.2(LPIN2):c.1169-3C>T rs200259086 0.00011
NM_001386795.1(DTNA):c.1652G>A (p.Arg551His) rs142108185 0.00011
NM_001458.5(FLNC):c.6387C>T (p.Thr2129=) rs200182180 0.00011
NM_001735.3(C5):c.2420C>T (p.Thr807Ile) rs372326645 0.00011
NM_001845.6(COL4A1):c.2316C>T (p.Ile772=) rs377593990 0.00011
NM_001927.4(DES):c.665G>A (p.Arg222His) rs367961979 0.00011
NM_002471.4(MYH6):c.1410C>T (p.Asp470=) rs139886074 0.00011
NM_002485.5(NBN):c.1914+10G>A rs577706448 0.00011
NM_002800.5(PSMB9):c.377G>A (p.Arg126His) rs56239515 0.00011
NM_003742.4(ABCB11):c.890A>G (p.Glu297Gly) rs11568372 0.00011
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys) rs74315511 0.00011
NM_005585.5(SMAD6):c.75C>T (p.Gly25=) rs755856670 0.00011
NM_006015.6(ARID1A):c.5636G>A (p.Arg1879Gln) rs371595717 0.00011
NM_006790.3(MYOT):c.594G>A (p.Val198=) rs372287923 0.00011
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=) rs41286292 0.00011
NM_007294.4(BRCA1):c.441+18C>T rs371973519 0.00011
NM_012464.5(TLL1):c.809C>G (p.Pro270Arg) rs560690746 0.00011
NM_013266.4(CTNNA3):c.1628G>A (p.Arg543Gln) rs369033938 0.00011
NM_013266.4(CTNNA3):c.1732+8A>G rs372686443 0.00011
NM_013275.6(ANKRD11):c.3274C>T (p.Pro1092Ser) rs773172347 0.00011
NM_014476.6(PDLIM3):c.246G>A (p.Arg82=) rs200354645 0.00011
NM_015909.4(NBAS):c.4968C>T (p.Asp1656=) rs542221151 0.00011
NM_016938.5(EFEMP2):c.1065C>A (p.Ser355Arg) rs377646143 0.00011
NM_017780.4(CHD7):c.4008C>T (p.Ile1336=) rs370471177 0.00011
NM_021830.5(TWNK):c.169G>A (p.Ala57Thr) rs373068264 0.00011
NM_022114.4(PRDM16):c.1719G>A (p.Ala573=) rs374254884 0.00011
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu) rs140511594 0.00011
NM_025132.4(WDR19):c.3615C>T (p.Gly1205=) rs202102903 0.00011
NM_032977.4(CASP10):c.347+10G>T rs377184631 0.00011
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys) rs74315396 0.00011
NM_173842.3(IL1RN):c.529G>A (p.Glu177Lys) rs114929884 0.00011
NM_182961.4(SYNE1):c.2395G>A (p.Val799Ile) rs199670962 0.00011
NM_000059.4(BRCA2):c.6937+74C>G rs971938860 0.00010
NM_000093.5(COL5A1):c.1970C>T (p.Pro657Leu) rs149912828 0.00010
NM_000214.3(JAG1):c.1608C>T (p.Asn536=) rs200648453 0.00010
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000256.3(MYBPC3):c.529C>T (p.Arg177Cys) rs193922385 0.00010
NM_000277.3(PAH):c.533A>G (p.Glu178Gly) rs77958223 0.00010
NM_000335.5(SCN5A):c.1338+20G>A rs45626543 0.00010
NM_000335.5(SCN5A):c.5199C>T (p.Asn1733=) rs368980118 0.00010
NM_000355.4(TCN2):c.921A>C (p.Pro307=) rs138738105 0.00010
NM_000383.4(AIRE):c.1115C>T (p.Ser372Leu) rs202237214 0.00010
NM_000388.4(CASR):c.73C>T (p.Arg25Ter) rs201633414 0.00010
NM_000455.5(STK11):c.787T>C (p.Leu263=) rs372378119 0.00010
NM_000489.6(ATRX):c.6871A>G (p.Ile2291Val) rs374244026 0.00010
NM_000501.4(ELN):c.1149C>T (p.Tyr383=) rs199621188 0.00010
NM_000528.4(MAN2B1):c.2670A>G (p.Ser890=) rs199606152 0.00010
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_000562.3(C8A):c.1657G>A (p.Ala553Thr) rs375719279 0.00010
NM_000834.5(GRIN2B):c.2172-6G>A rs201390691 0.00010
NM_001035.3(RYR2):c.9067+10C>T rs372631657 0.00010
NM_001081.4(CUBN):c.3746G>A (p.Arg1249His) rs151039810 0.00010
NM_001103.4(ACTN2):c.1192C>T (p.Arg398Cys) rs148189507 0.00010
NM_001105206.3(LAMA4):c.1821G>A (p.Lys607=) rs374481199 0.00010
NM_001159699.2(FHL1):c.737-11_737-8del rs754404850 0.00010
NM_001159699.2(FHL1):c.737-18del rs776759929 0.00010
NM_001191061.2(SLC25A22):c.414C>T (p.Ala138=) rs199887745 0.00010
NM_001267550.2(TTN):c.12587C>A (p.Ser4196Ter) rs370912401 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.63960T>A (p.Val21320=) rs397517655 0.00010
NM_001267550.2(TTN):c.93981C>G (p.Val31327=) rs370894846 0.00010
NM_001330588.2(TPP2):c.2591A>G (p.Lys864Arg) rs770781368 0.00010
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met) rs104893688 0.00010
NM_001376.5(DYNC1H1):c.2211T>A (p.Val737=) rs149902566 0.00010
NM_001386795.1(DTNA):c.614C>T (p.Thr205Met) rs201071018 0.00010
NM_001458.5(FLNC):c.7289C>T (p.Ala2430Val) rs200516164 0.00010
NM_001943.5(DSG2):c.1597G>A (p.Val533Ile) rs199761749 0.00010
NM_001943.5(DSG2):c.2643C>T (p.Thr881=) rs180695545 0.00010
NM_002471.4(MYH6):c.161G>A (p.Arg54Gln) rs727503239 0.00010
NM_002661.5(PLCG2):c.2898C>T (p.Ile966=) rs61749046 0.00010
NM_003239.5(TGFB3):c.873G>A (p.Pro291=) rs370006165 0.00010
NM_003664.5(AP3B1):c.2340C>T (p.Ser780=) rs199599147 0.00010
NM_004006.3(DMD):c.4877T>A (p.Val1626Glu) rs72468634 0.00010
NM_004415.4(DSP):c.3922C>T (p.Arg1308Trp) rs144641271 0.00010
NM_005045.4(RELN):c.5274G>T (p.Ala1758=) rs139102992 0.00010
NM_005548.3(KARS1):c.222+10C>T rs374496494 0.00010
NM_006892.4(DNMT3B):c.2055G>A (p.Lys685=) rs144497819 0.00010
NM_012275.3(IL36RN):c.142C>T (p.Arg48Trp) rs151325121 0.00010
NM_014391.3(ANKRD1):c.750+17G>A rs373898620 0.00010
NM_015404.4(WHRN):c.2384G>A (p.Arg795Gln) rs143763650 0.00010
NM_017617.5(NOTCH1):c.2740+14C>T rs375880798 0.00010
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter) rs376161880 0.00010
NM_025103.4(IFT74):c.968A>G (p.Glu323Gly) rs202139740 0.00010
NM_032119.4(ADGRV1):c.15829C>T (p.Arg5277Cys) rs375450242 0.00010
NM_033337.3(CAV3):c.168C>T (p.Gly56=) rs116840774 0.00010
NM_053025.4(MYLK):c.1133G>A (p.Arg378His) rs56378658 0.00010
NM_170707.4(LMNA):c.1202G>A (p.Arg401His) rs141490569 0.00010
NM_000051.4(ATM):c.5005+7_5005+8del rs587780626 0.00009
NM_000051.4(ATM):c.670A>G (p.Lys224Glu) rs145053092 0.00009
NM_000093.5(COL5A1):c.3691-9T>C rs187584029 0.00009
NM_000169.3(GLA):c.945C>T (p.Asp315=) rs151208856 0.00009
NM_000256.3(MYBPC3):c.648C>T (p.Ala216=) rs777418402 0.00009
NM_000277.3(PAH):c.721C>T (p.Arg241Cys) rs76687508 0.00009
NM_000285.4(PEPD):c.183C>T (p.Thr61=) rs560782839 0.00009
NM_000302.4(PLOD1):c.1650G>A (p.Thr550=) rs201999965 0.00009
NM_000335.5(SCN5A):c.885G>A (p.Glu295=) rs373342830 0.00009
NM_000337.6(SGCD):c.717G>A (p.Ala239=) rs145430692 0.00009
NM_000368.5(TSC1):c.1333+5A>G rs118203515 0.00009
NM_000431.4(MVK):c.591C>T (p.His197=) rs104895329 0.00009
NM_000458.4(HNF1B):c.1578C>G (p.Ser526=) rs751225159 0.00009
NM_000639.3(FASLG):c.177G>A (p.Pro59=) rs559795993 0.00009
NM_000722.4(CACNA2D1):c.1066A>G (p.Lys356Glu) rs201682618 0.00009
NM_000747.3(CHRNB1):c.647G>A (p.Arg216Gln) rs200684767 0.00009
NM_001008537.3(NEXMIF):c.4422G>A (p.Lys1474=) rs371190782 0.00009
NM_001009944.3(PKD1):c.11589G>A (p.Leu3863=) rs778410054 0.00009
NM_001110556.2(FLNA):c.7450C>T (p.Arg2484Cys) rs782557713 0.00009
NM_001110792.2(MECP2):c.1270G>A (p.Val424Ile) rs61753966 0.00009
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser) rs759377924 0.00009
NM_001134363.3(RBM20):c.3451+14A>G rs774391134 0.00009
NM_001267550.2(TTN):c.1245+20G>T rs371234481 0.00009
NM_001267550.2(TTN):c.2061A>G (p.Gln687=) rs188680791 0.00009
NM_001267550.2(TTN):c.41931T>C (p.Tyr13977=) rs369128249 0.00009
NM_001267550.2(TTN):c.47133A>G (p.Ala15711=) rs573218266 0.00009
NM_001267550.2(TTN):c.52317A>G (p.Lys17439=) rs370450339 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_001353921.2(ARHGEF9):c.1530A>T (p.Pro510=) rs145815177 0.00009
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr) rs121909100 0.00009
NM_001378969.1(KCND3):c.1062C>A (p.Ile354=) rs150934088 0.00009
NM_001458.5(FLNC):c.1605C>T (p.Cys535=) rs199976790 0.00009
NM_001458.5(FLNC):c.2292C>T (p.Pro764=) rs369916201 0.00009
NM_001458.5(FLNC):c.5888C>T (p.Thr1963Met) rs772580545 0.00009
NM_002294.3(LAMP2):c.157C>T (p.Arg53Cys) rs752321157 0.00009
NM_002294.3(LAMP2):c.42C>T (p.Leu14=) rs727503122 0.00009
NM_002471.4(MYH6):c.3118C>T (p.Leu1040=) rs368497504 0.00009
NM_002471.4(MYH6):c.4833C>T (p.Asn1611=) rs139329956 0.00009
NM_002474.3(MYH11):c.5226G>C (p.Glu1742Asp) rs144421849 0.00009
NM_003239.5(TGFB3):c.558C>T (p.Ile186=) rs138389291 0.00009
NM_003476.5(CSRP3):c.379G>A (p.Val127Ile) rs149201422 0.00009
NM_004006.3(DMD):c.8027+13T>G rs772027445 0.00009
NM_004287.5(GOSR2):c.430G>T (p.Gly144Trp) rs387906881 0.00009
NM_004415.4(DSP):c.5523A>C (p.Ser1841=) rs730882116 0.00009
NM_004715.5(CTDP1):c.753G>A (p.Leu251=) rs370316956 0.00009
NM_006267.5(RANBP2):c.8859C>T (p.Arg2953=) rs779450120 0.00009
NM_012448.4(STAT5B):c.2352C>T (p.His784=) rs375173590 0.00009
NM_015915.5(ATL1):c.322A>G (p.Thr108Ala) rs112496709 0.00009
NM_016122.3(CEP83):c.625C>T (p.Arg209Ter) rs369483167 0.00009
NM_017491.5(WDR1):c.489C>G (p.Ala163=) rs201161346 0.00009
NM_017777.4(MKS1):c.516-10T>C rs375046501 0.00009
NM_018055.5(NODAL):c.586C>T (p.Leu196Phe) rs200445211 0.00009
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro) rs193251130 0.00009
NM_022114.4(PRDM16):c.3301G>A (p.Val1101Met) rs201654872 0.00009
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met) rs104894705 0.00009
NM_032119.4(ADGRV1):c.14373T>A (p.Ala4791=) rs375062187 0.00009
NM_032578.4(MYPN):c.2864G>A (p.Arg955Gln) rs199476414 0.00009
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958 0.00009
NM_144573.4(NEXN):c.1435C>T (p.Leu479Phe) rs181520023 0.00009
NM_201384.3(PLEC):c.11077G>A (p.Ala3693Thr) rs369497741 0.00009
NM_000038.6(APC):c.573T>C (p.Tyr191=) rs185154886 0.00008
NM_000152.5(GAA):c.1194+3G>C rs368539333 0.00008
NM_000377.3(WAS):c.264C>T (p.Tyr88=) rs150520117 0.00008
NM_000548.5(TSC2):c.4662+18G>A rs45517357 0.00008
NM_000726.5(CACNB4):c.771G>A (p.Thr257=) rs2293219 0.00008
NM_001099274.3(TINF2):c.1302C>T (p.His434=) rs568909774 0.00008
NM_001105206.3(LAMA4):c.2599C>A (p.Pro867Thr) rs782162498 0.00008
NM_001127649.3(PEX26):c.292C>T (p.Arg98Trp) rs62641228 0.00008
NM_001134363.3(RBM20):c.2147G>A (p.Arg716Gln) rs375798246 0.00008
NM_001165963.4(SCN1A):c.4887C>T (p.Phe1629=) rs587780445 0.00008
NM_001199397.3(NEK1):c.1080+4T>C rs757527637 0.00008
NM_001232.4(CASQ2):c.774T>C (p.Phe258=) rs181769947 0.00008
NM_001369.3(DNAH5):c.7888-4A>G rs775268409 0.00008
NM_001370259.2(MEN1):c.1185+12G>A rs373609932 0.00008
NM_001458.5(FLNC):c.6988G>A (p.Gly2330Ser) rs527248119 0.00008
NM_002230.4(JUP):c.475G>T (p.Val159Leu) rs782702266 0.00008
NM_002637.4(PHKA1):c.3080G>C (p.Gly1027Ala) rs145272281 0.00008
NM_004519.4(KCNQ3):c.1935A>G (p.Gln645=) rs587781011 0.00008
NM_004958.4(MTOR):c.3802-8G>T rs546427418 0.00008
NM_005477.3(HCN4):c.3531G>T (p.Gly1177=) rs375911378 0.00008
NM_006904.7(PRKDC):c.2529C>T (p.Asn843=) rs576550975 0.00008
NM_015102.5(NPHP4):c.1923C>T (p.Asn641=) rs372430727 0.00008
NM_015922.3(NSDHL):c.1020C>T (p.Cys340=) rs376794048 0.00008
NM_017780.4(CHD7):c.3778+17C>T rs111863846 0.00008
NM_024334.3(TMEM43):c.798G>A (p.Arg266=) rs139078900 0.00008
NM_025132.4(WDR19):c.2454C>T (p.Ala818=) rs748535483 0.00008
NM_030665.4(RAI1):c.1650C>T (p.Pro550=) rs143287802 0.00008
NM_033629.6(TREX1):c.486G>A (p.Leu162=) rs55786737 0.00008
NM_144573.4(NEXN):c.78T>C (p.Leu26=) rs376535223 0.00008
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079 0.00008
NM_198253.3(TERT):c.1392C>T (p.Phe464=) rs186596886 0.00008
NM_000117.3(EMD):c.400-9C>T rs782061626 0.00007
NM_000234.3(LIG1):c.1569C>T (p.His523=) rs758926643 0.00007
NM_000238.4(KCNH2):c.2376C>T (p.Gly792=) rs745993706 0.00007
NM_000256.3(MYBPC3):c.2196C>T (p.Asp732=) rs397515955 0.00007
NM_000256.3(MYBPC3):c.3107G>A (p.Arg1036His) rs374255381 0.00007
NM_000277.3(PAH):c.473G>A (p.Arg158Gln) rs5030843 0.00007
NM_000335.5(SCN5A):c.1842A>G (p.Pro614=) rs766696979 0.00007
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val) rs199473625 0.00007
NM_000337.6(SGCD):c.402T>C (p.Ala134=) rs190935424 0.00007
NM_001017420.3(ESCO2):c.1132-7A>G rs80359862 0.00007
NM_001035.3(RYR2):c.10017C>T (p.His3339=) rs376439588 0.00007
NM_001035.3(RYR2):c.11766G>A (p.Glu3922=) rs774625105 0.00007
NM_001105206.3(LAMA4):c.874G>A (p.Glu292Lys) rs781838464 0.00007
NM_001110556.2(FLNA):c.2023-4C>G rs368719012 0.00007
NM_001111125.3(IQSEC2):c.3015+9A>G rs781956154 0.00007
NM_001111125.3(IQSEC2):c.3541C>T (p.Pro1181Ser) rs782101524 0.00007
NM_001267550.2(TTN):c.100396C>T (p.Arg33466Cys) rs371908649 0.00007
NM_001267550.2(TTN):c.102984C>T (p.Asp34328=) rs541125667 0.00007
NM_001267550.2(TTN):c.66C>T (p.Thr22=) rs143623862 0.00007
NM_001267550.2(TTN):c.71452A>G (p.Ile23818Val) rs776911847 0.00007
NM_001365276.2(TNXB):c.6819C>T (p.Pro2273=) rs374172438 0.00007
NM_001366385.1(CARD14):c.345T>C (p.Phe115=) rs372257600 0.00007
NM_001458.5(FLNC):c.1886G>A (p.Arg629Gln) rs765173966 0.00007
NM_001458.5(FLNC):c.7605G>A (p.Ser2535=) rs777724201 0.00007
NM_002163.4(IRF8):c.1077C>T (p.Pro359=) rs148203070 0.00007
NM_002230.4(JUP):c.1774-6C>T rs375016135 0.00007
NM_004006.3(DMD):c.9093C>T (p.Val3031=) rs72466563 0.00007
NM_004187.5(KDM5C):c.3533C>T (p.Ser1178Leu) rs370672146 0.00007
NM_004320.6(ATP2A1):c.100G>T (p.Glu34Ter) rs141559558 0.00007
NM_004356.4(CD81):c.426C>T (p.Asn142=) rs369472934 0.00007
NM_004646.4(NPHS1):c.1868G>T (p.Cys623Phe) rs386833895 0.00007
NM_004958.4(MTOR):c.1566C>T (p.Tyr522=) rs369221365 0.00007
NM_005120.3(MED12):c.1167G>A (p.Lys389=) rs374324656 0.00007
NM_006397.3(RNASEH2A):c.402C>T (p.Asn134=) rs778120777 0.00007
NM_016938.5(EFEMP2):c.975-15C>T rs768211662 0.00007
NM_017617.5(NOTCH1):c.2014+16C>T rs199814619 0.00007
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) rs756972680 0.00007
NM_017617.5(NOTCH1):c.7397C>T (p.Thr2466Met) rs369167555 0.00007
NM_020988.3(GNAO1):c.75G>A (p.Glu25=) rs182812404 0.00007
NM_021625.5(TRPV4):c.387-9C>T rs552614584 0.00007
NM_025099.6(CTC1):c.2923A>G (p.Arg975Gly) rs199473678 0.00007
NM_025216.3(WNT10A):c.383G>A (p.Arg128Gln) rs121908121 0.00007
NM_030777.4(SLC2A10):c.581C>T (p.Thr194Ile) rs763889166 0.00007
NM_031407.7(HUWE1):c.4527C>T (p.Thr1509=) rs368416687 0.00007
NM_032119.4(ADGRV1):c.6174A>T (p.Ile2058=) rs370197017 0.00007
NM_032578.4(MYPN):c.660G>A (p.Arg220=) rs372218308 0.00007
NM_033337.3(CAV3):c.204C>A (p.Ser68=) rs116840775 0.00007
NM_178170.3(NEK8):c.1795C>T (p.Arg599Ter) rs375661404 0.00007
NM_000051.4(ATM):c.3577-13T>C rs587780856 0.00006
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg) rs121907992 0.00006
NM_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg) rs80358935 0.00006
NM_000059.4(BRCA2):c.8662C>T (p.Arg2888Cys) rs80359123 0.00006
NM_000081.4(LYST):c.3030A>G (p.Gly1010=) rs751511204 0.00006
NM_000089.4(COL1A2):c.81+15T>C rs758384218 0.00006
NM_000117.3(EMD):c.188-12C>T rs371016049 0.00006
NM_000117.3(EMD):c.454C>T (p.Arg152Cys) rs376456050 0.00006
NM_000132.4(F8):c.3701A>T (p.His1234Leu) rs145507297 0.00006
NM_000138.5(FBN1):c.8310C>T (p.His2770=) rs112189340 0.00006
NM_000179.3(MSH6):c.643G>A (p.Val215Ile) rs145959653 0.00006
NM_000214.3(JAG1):c.1383C>T (p.Asp461=) rs140604589 0.00006
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile) rs28940578 0.00006
NM_000256.3(MYBPC3):c.1224-80G>A rs1025692267 0.00006
NM_000256.3(MYBPC3):c.132C>T (p.Arg44=) rs377579620 0.00006
NM_000256.3(MYBPC3):c.1720C>A (p.Arg574=) rs61897383 0.00006
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645 0.00006
NM_000257.4(MYH7):c.4283T>C (p.Leu1428Ser) rs727503244 0.00006
NM_000277.3(PAH):c.814G>T (p.Gly272Ter) rs62514952 0.00006
NM_000302.4(PLOD1):c.77-7T>C rs371488160 0.00006
NM_000337.6(SGCD):c.295-20C>A rs144250417 0.00006
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu) rs118203553 0.00006
NM_000439.5(PCSK1):c.1764G>A (p.Lys588=) rs538803955 0.00006
NM_000487.6(ARSA):c.641C>T (p.Ala214Val) rs74315467 0.00006
NM_000722.4(CACNA2D1):c.3218T>C (p.Ile1073Thr) rs146250893 0.00006
NM_001002295.2(GATA3):c.840G>C (p.Thr280=) rs144796042 0.00006
NM_001035.3(RYR2):c.14808+17A>C rs368520821 0.00006
NM_001035.3(RYR2):c.1612+13A>G rs368200572 0.00006
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter) rs199469707 0.00006
NM_001083116.3(PRF1):c.666C>A (p.His222Gln) rs751247865 0.00006
NM_001105206.3(LAMA4):c.2232G>A (p.Thr744=) rs145489423 0.00006
NM_001110556.2(FLNA):c.5616G>C (p.Gly1872=) rs782204300 0.00006
NM_001130823.3(DNMT1):c.3960C>T (p.Tyr1320=) rs139728982 0.00006
NM_001134363.3(RBM20):c.3478G>A (p.Gly1160Ser) rs374611807 0.00006
NM_001148.6(ANK2):c.6143A>G (p.Gln2048Arg) rs201628725 0.00006
NM_001161352.2(KCNMA1):c.3144C>T (p.Ser1048=) rs2227913 0.00006
NM_001261826.3(AP3D1):c.3285C>T (p.His1095=) rs773829362 0.00006
NM_001267550.2(TTN):c.10659A>G (p.Thr3553=) rs748958021 0.00006
NM_001267550.2(TTN):c.3514C>A (p.Leu1172Ile) rs375735354 0.00006
NM_001267550.2(TTN):c.49937G>A (p.Arg16646Gln) rs746384579 0.00006
NM_001267550.2(TTN):c.57112-14T>C rs777473081 0.00006
NM_001267550.2(TTN):c.59474G>C (p.Arg19825Thr) rs376465623 0.00006
NM_001267550.2(TTN):c.64673-5T>C rs530496528 0.00006
NM_001267550.2(TTN):c.65389T>G (p.Cys21797Gly) rs375830234 0.00006
NM_001267550.2(TTN):c.73491T>C (p.Tyr24497=) rs545377175 0.00006
NM_001267550.2(TTN):c.76566_76568dup (p.Arg25523dup) rs772268958 0.00006
NM_001267550.2(TTN):c.76699G>T (p.Val25567Phe) rs3813244 0.00006
NM_001267550.2(TTN):c.86463A>G (p.Gly28821=) rs368268066 0.00006
NM_001267550.2(TTN):c.89520C>T (p.Asp29840=) rs746569192 0.00006
NM_001267550.2(TTN):c.93444C>T (p.Tyr31148=) rs561739832 0.00006
NM_001267550.2(TTN):c.97643G>A (p.Arg32548His) rs55676195 0.00006
NM_001352000.1(LOC110384692):c.2719= (p.Ala907=) rs796750528 0.00006
NM_001372044.2(SHANK3):c.5412C>T (p.Asp1804=) rs1012662762 0.00006
NM_001378454.1(ALMS1):c.6458A>G (p.Gln2153Arg) rs534635095 0.00006
NM_001458.5(FLNC):c.5468C>T (p.Thr1823Met) rs140857707 0.00006
NM_001927.4(DES):c.1024-7C>G rs779098835 0.00006
NM_001943.5(DSG2):c.1643G>A (p.Arg548His) rs551034751 0.00006
NM_002230.4(JUP):c.1909C>T (p.Arg637Cys) rs531732438 0.00006
NM_002471.4(MYH6):c.3177C>T (p.Gly1059=) rs529676901 0.00006
NM_002471.4(MYH6):c.5292C>T (p.Ala1764=) rs753745013 0.00006
NM_002661.5(PLCG2):c.421A>G (p.Ile141Val) rs554363067 0.00006
NM_002834.5(PTPN11):c.616T>C (p.Leu206=) rs78376169 0.00006
NM_003036.4(SKI):c.1182C>T (p.Ser394=) rs542616415 0.00006
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro) rs104894205 0.00006
NM_003482.4(KMT2D):c.4392C>A (p.Val1464=) rs758265897 0.00006
NM_003482.4(KMT2D):c.4986C>T (p.Cys1662=) rs143063879 0.00006
NM_003482.4(KMT2D):c.7904G>A (p.Arg2635Gln) rs200359477 0.00006
NM_003640.5(ELP1):c.2803A>T (p.Thr935Ser) rs145484092 0.00006
NM_003824.4(FADD):c.313T>C (p.Cys105Arg) rs369869993 0.00006
NM_003982.4(SLC7A7):c.1417C>T (p.Arg473Ter) rs386833808 0.00006
NM_004100.5(EYA4):c.1338A>G (p.Leu446=) rs200309400 0.00006
NM_004415.4(DSP):c.2437-20T>G rs778134276 0.00006
NM_005188.4(CBL):c.2262T>G (p.Asn754Lys) rs148139669 0.00006
NM_005629.4(SLC6A8):c.1038C>T (p.Leu346=) rs369716393 0.00006
NM_005751.5(AKAP9):c.3793G>A (p.Glu1265Lys) rs1424485718 0.00006
NM_005765.3(ATP6AP2):c.822T>C (p.Ile274=) rs149902247 0.00006
NM_007078.3(LDB3):c.676G>A (p.Gly226Arg) rs771099131 0.00006
NM_007118.4(TRIO):c.2686G>A (p.Ala896Thr) rs753652108 0.00006
NM_007294.4(BRCA1):c.1617G>A (p.Thr539=) rs372002119 0.00006
NM_012134.3(LMOD1):c.349C>T (p.Arg117Trp) rs559672115 0.00006
NM_012431.3(SEMA3E):c.479C>T (p.Ser160Leu) rs142392597 0.00006
NM_014000.3(VCL):c.2349G>A (p.Val783=) rs558040780 0.00006
NM_014000.3(VCL):c.2467C>T (p.Arg823Trp) rs779047174 0.00006
NM_014140.4(SMARCAL1):c.836T>C (p.Phe279Ser) rs775057827 0.00006
NM_014391.3(ANKRD1):c.544C>T (p.Arg182Cys) rs754717867 0.00006
NM_015909.4(NBAS):c.648-7A>T rs765237685 0.00006
NM_017617.5(NOTCH1):c.3271G>A (p.Gly1091Ser) rs768095251 0.00006
NM_017668.3(NDE1):c.948-9103C>T rs202120792 0.00006
NM_017837.4(PIGV):c.439C>T (p.Gln147Ter) rs185641230 0.00006
NM_020297.4(ABCC9):c.4512+711G>A rs72559751 0.00006
NM_020774.4(MIB1):c.376C>T (p.Arg126Ter) rs190657514 0.00006
NM_021245.4(MYOZ1):c.551A>G (p.Tyr184Cys) rs201443990 0.00006
NM_022114.4(PRDM16):c.2691+4C>T rs374015321 0.00006
NM_022489.4(INF2):c.885G>A (p.Leu295=) rs370680236 0.00006
NM_024426.6(WT1):c.1146T>A (p.Thr382=) rs371168589 0.00006
NM_025009.5(CEP135):c.874C>T (p.Arg292Ter) rs752140135 0.00006
NM_025099.6(CTC1):c.1002C>T (p.Leu334=) rs369276308 0.00006
NM_025099.6(CTC1):c.3326A>G (p.Asp1109Gly) rs202226502 0.00006
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832 0.00006
NM_053025.4(MYLK):c.4565T>C (p.Val1522Ala) rs763880352 0.00006
NM_144573.4(NEXN):c.1453G>A (p.Glu485Lys) rs368812830 0.00006
NM_152381.6(XIRP2):c.3918G>A (p.Gln1306=) rs577878226 0.00006
NM_152564.5(VPS13B):c.1303-9G>A rs370251445 0.00006
NM_153704.6(TMEM67):c.755T>C (p.Met252Thr) rs202149403 0.00006
NM_170707.4(LMNA):c.1567G>A (p.Gly523Arg) rs201583907 0.00006
NM_175875.5(SIX5):c.1498G>A (p.Gly500Arg) rs766460655 0.00006
NM_182961.4(SYNE1):c.22016C>A (p.Ala7339Asp) rs146907132 0.00006
NM_000051.4(ATM):c.4724G>A (p.Arg1575His) rs550552791 0.00005
NM_000057.4(BLM):c.4077-5T>C rs200653178 0.00005
NM_000059.4(BRCA2):c.5268A>G (p.Val1756=) rs199879914 0.00005
NM_000090.4(COL3A1):c.1188C>T (p.Gly396=) rs745743884 0.00005
NM_000214.3(JAG1):c.3570G>A (p.Pro1190=) rs201572666 0.00005
NM_000219.6(KCNE1):c.226G>A (p.Asp76Asn) rs74315445 0.00005
NM_000228.3(LAMB3):c.727C>T (p.Gln243Ter) rs80356681 0.00005
NM_000256.3(MYBPC3):c.1494C>G (p.Thr498=) rs397515906 0.00005
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys) rs730880555 0.00005
NM_000518.5(HBB):c.92+1G>A rs33971440 0.00005
NM_000540.3(RYR1):c.4306G>A (p.Val1436Met) rs200289457 0.00005
NM_001040151.2(SCN3B):c.570A>G (p.Ala190=) rs575419664 0.00005
NM_001065.4(TNFRSF1A):c.168G>A (p.Ser56=) rs104895280 0.00005
NM_001080512.3(BICC1):c.637A>G (p.Ile213Val) rs550455235 0.00005
NM_001105206.3(LAMA4):c.4208C>T (p.Pro1403Leu) rs1255830395 0.00005
NM_001110556.2(FLNA):c.3678C>T (p.Pro1226=) rs377579695 0.00005
NM_001110556.2(FLNA):c.543G>A (p.Pro181=) rs201486643 0.00005
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg) rs34803727 0.00005
NM_001127222.2(CACNA1A):c.4591-9C>G rs16032 0.00005
NM_001134363.3(RBM20):c.2017C>T (p.Arg673Trp) rs397516599 0.00005
NM_001184880.2(PCDH19):c.2976G>A (p.Ala992=) rs772345040 0.00005
NM_001267550.2(TTN):c.3380+9A>G rs770149480 0.00005
NM_001267550.2(TTN):c.49649-11T>C rs727504474 0.00005
NM_001267550.2(TTN):c.49704A>G (p.Val16568=) rs565691537 0.00005
NM_001267550.2(TTN):c.54178G>A (p.Val18060Ile) rs190574498 0.00005
NM_001267550.2(TTN):c.54811+10C>T rs796651993 0.00005
NM_001267550.2(TTN):c.59456C>T (p.Thr19819Ile) rs758287054 0.00005
NM_001267550.2(TTN):c.72113C>T (p.Thr24038Met) rs370375696 0.00005
NM_001267550.2(TTN):c.80168G>A (p.Arg26723His) rs371615296 0.00005
NM_001267550.2(TTN):c.82486G>A (p.Asp27496Asn) rs554231442 0.00005
NM_001267550.2(TTN):c.90452T>C (p.Leu30151Pro) rs568322187 0.00005
NM_001267550.2(TTN):c.93708C>T (p.Asp31236=) rs560835240 0.00005
NM_001267550.2(TTN):c.98866A>G (p.Met32956Val) rs727503538 0.00005
NM_001276345.2(TNNT2):c.887G>A (p.Arg296His) rs141121678 0.00005
NM_001291303.3(FAT4):c.9163C>A (p.Gln3055Lys) rs199778782 0.00005
NM_001367721.1(CASK):c.195C>T (p.Ile65=) rs769320891 0.00005
NM_001378615.1(CC2D2A):c.4553G>A (p.Arg1518Gln) rs200645738 0.00005
NM_001458.5(FLNC):c.2425G>A (p.Val809Met) rs775770671 0.00005
NM_001458.5(FLNC):c.2490C>T (p.Thr830=) rs777580254 0.00005
NM_001458.5(FLNC):c.4054C>T (p.Arg1352Cys) rs367931139 0.00005
NM_002230.4(JUP):c.460G>A (p.Glu154Lys) rs782765314 0.00005
NM_002471.4(MYH6):c.5427A>C (p.Gly1809=) rs149294569 0.00005
NM_002473.6(MYH9):c.2280A>G (p.Lys760=) rs549515435 0.00005
NM_002474.3(MYH11):c.5176G>A (p.Ala1726Thr) rs376154041 0.00005
NM_003737.4(DCHS1):c.4608C>T (p.Val1536=) rs769958055 0.00005
NM_004408.4(DNM1):c.1422+7C>A rs761674210 0.00005
NM_004484.4(GPC3):c.168C>G (p.Pro56=) rs188592483 0.00005
NM_004958.4(MTOR):c.5811+13G>A rs370120494 0.00005
NM_004958.4(MTOR):c.5812-19G>A rs374670621 0.00005
NM_005334.3(HCFC1):c.4025C>T (p.Thr1342Met) rs782413424 0.00005
NM_005956.4(MTHFD1):c.1128-10C>T rs377181293 0.00005
NM_006231.4(POLE):c.5253C>T (p.Ala1751=) rs765888059 0.00005
NM_007078.3(LDB3):c.992C>T (p.Ala331Val) rs368053281 0.00005
NM_014000.3(VCL):c.528C>T (p.Asp176=) rs746453891 0.00005
NM_014339.7(IL17RA):c.327C>T (p.Leu109=) rs202060976 0.00005
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu) rs140781535 0.00005
NM_016203.4(PRKAG2):c.1114G>A (p.Asp372Asn) rs760826751 0.00005
NM_016203.4(PRKAG2):c.147C>T (p.Asp49=) rs761196275 0.00005
NM_016203.4(PRKAG2):c.1659C>T (p.Ala553=) rs374476363 0.00005
NM_017617.5(NOTCH1):c.1774C>T (p.Arg592Cys) rs1472690723 0.00005
NM_017617.5(NOTCH1):c.2908A>G (p.Thr970Ala) rs201053795 0.00005
NM_020297.4(ABCC9):c.4512+7A>G rs371646433 0.00005
NM_021942.6(TRAPPC11):c.1288-5A>G rs774073046 0.00005
NM_024334.3(TMEM43):c.442+12G>C rs530183718 0.00005
NM_024334.3(TMEM43):c.882+17A>G rs370443570 0.00005
NM_024411.5(PDYN):c.74G>A (p.Arg25Gln) rs369559888 0.00005
NM_031407.7(HUWE1):c.2614C>A (p.Arg872=) rs782695696 0.00005
NM_138704.4(NSMCE3):c.790C>T (p.Leu264Phe) rs199905054 0.00005
NM_000027.4(AGA):c.645A>G (p.Thr215=) rs201441868 0.00004
NM_000051.4(ATM):c.2610C>T (p.Asn870=) rs587780618 0.00004
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884 0.00004
NM_000059.4(BRCA2):c.7806-48A>G rs751904687 0.00004
NM_000081.4(LYST):c.9804A>G (p.Pro3268=) rs368740409 0.00004
NM_000091.5(COL4A3):c.934-6C>A rs369438839 0.00004
NM_000138.5(FBN1):c.3145G>A (p.Gly1049Ser) rs778181932 0.00004
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989 0.00004
NM_000152.5(GAA):c.1655T>C (p.Leu552Pro) rs779556619 0.00004
NM_000188.3(HK1):c.1265+19A>G rs560638858 0.00004
NM_000213.5(ITGB4):c.4932A>G (p.Pro1644=) rs368991974 0.00004
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val) rs149366993 0.00004
NM_000215.4(JAK3):c.2772C>T (p.Ser924=) rs199939250 0.00004
NM_000238.4(KCNH2):c.2717C>T (p.Ser906Leu) rs199473435 0.00004
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp) rs104895079 0.00004
NM_000249.4(MLH1):c.1269G>A (p.Arg423=) rs373076967 0.00004
NM_000256.3(MYBPC3):c.150C>T (p.Ser50=) rs368918487 0.00004
NM_000256.3(MYBPC3):c.2783C>T (p.Ser928Leu) rs773819168 0.00004
NM_000256.3(MYBPC3):c.540C>T (p.Gly180=) rs371842442 0.00004
NM_000256.3(MYBPC3):c.787G>A (p.Gly263Arg) rs373730381 0.00004
NM_000257.4(MYH7):c.1405G>A (p.Asp469Asn) rs397516106 0.00004
NM_000257.4(MYH7):c.3993C>T (p.His1331=) rs200288088 0.00004
NM_000257.4(MYH7):c.4083T>G (p.Leu1361=) rs754295295 0.00004
NM_000257.4(MYH7):c.4827C>T (p.Asn1609=) rs587781085 0.00004
NM_000257.4(MYH7):c.5253T>C (p.Ala1751=) rs776282574 0.00004
NM_000257.4(MYH7):c.640-18C>T rs776778917 0.00004
NM_000277.3(PAH):c.331C>T (p.Arg111Ter) rs76296470 0.00004
NM_000277.3(PAH):c.727C>T (p.Arg243Ter) rs5030846 0.00004
NM_000277.3(PAH):c.842+1G>A rs5030852 0.00004
NM_000335.5(SCN5A):c.3080G>A (p.Arg1027Gln) rs763891399 0.00004
NM_000335.5(SCN5A):c.5958C>A (p.Asn1986Lys) rs199473335 0.00004
NM_000337.6(SGCD):c.15G>C (p.Glu5Asp) rs549319429 0.00004
NM_000363.5(TNNI3):c.422G>A (p.Arg141Gln) rs397516347 0.00004
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_000383.4(AIRE):c.531C>T (p.Leu177=) rs538568691 0.00004
NM_000432.4(MYL2):c.403-1G>C rs199474813 0.00004
NM_000481.4(AMT):c.959G>A (p.Arg320His) rs121964985 0.00004
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln) rs74315458 0.00004
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe) rs74315456 0.00004
NM_000498.3(CYP11B2):c.554C>T (p.Thr185Ile) rs121912978 0.00004
NM_000533.5(PLP1):c.799G>A (p.Val267Ile) rs137966879 0.00004
NM_000719.7(CACNA1C):c.3567C>T (p.Cys1189=) rs202058956 0.00004
NM_000744.7(CHRNA4):c.383+7C>T rs200690355 0.00004
NM_001005242.3(PKP2):c.2001C>T (p.Ala667=) rs529442984 0.00004
NM_001005242.3(PKP2):c.2019G>A (p.Pro673=) rs147995773 0.00004
NM_001005242.3(PKP2):c.464G>C (p.Ser155Thr) rs141438322 0.00004
NM_001005242.3(PKP2):c.714G>A (p.Pro238=) rs727503372 0.00004
NM_001009944.3(PKD1):c.3429C>T (p.Pro1143=) rs377661579 0.00004
NM_001009944.3(PKD1):c.9708C>T (p.Ala3236=) rs755291122 0.00004
NM_001035.3(RYR2):c.12207T>C (p.Cys4069=) rs756280887 0.00004
NM_001035.3(RYR2):c.4160+7A>G rs377465289 0.00004
NM_001042432.2(CLN3):c.516C>T (p.Leu172=) rs148846795 0.00004
NM_001079802.2(FKTN):c.207T>C (p.Asn69=) rs752921570 0.00004
NM_001099274.3(TINF2):c.819C>T (p.Ala273=) rs376845893 0.00004
NM_001126108.2(SLC12A3):c.1387G>A (p.Gly463Arg) rs374163823 0.00004
NM_001134363.3(RBM20):c.2916G>A (p.Gly972=) rs1391384955 0.00004
NM_001134363.3(RBM20):c.3344C>T (p.Ser1115Phe) rs769531546 0.00004
NM_001134363.3(RBM20):c.933G>C (p.Leu311=) rs761015603 0.00004
NM_001148.6(ANK2):c.417A>G (p.Gln139=) rs145234030 0.00004
NM_001161352.2(KCNMA1):c.1239C>T (p.Cys413=) rs139515379 0.00004
NM_001161352.2(KCNMA1):c.1563C>A (p.Ile521=) rs78544619 0.00004
NM_001267550.2(TTN):c.102275G>A (p.Arg34092His) rs757918924 0.00004
NM_001267550.2(TTN):c.11066T>C (p.Ile3689Thr) rs527924868 0.00004
NM_001267550.2(TTN):c.33015A>C (p.Pro11005=) rs369298371 0.00004
NM_001267550.2(TTN):c.4274C>T (p.Ala1425Val) rs746063269 0.00004
NM_001267550.2(TTN):c.43214-16T>C rs760520019 0.00004
NM_001267550.2(TTN):c.46489G>T (p.Val15497Phe) rs371299188 0.00004
NM_001267550.2(TTN):c.54382-17G>T rs567215912 0.00004
NM_001267550.2(TTN):c.70833G>A (p.Ala23611=) rs377220635 0.00004
NM_001267550.2(TTN):c.75997G>A (p.Gly25333Ser) rs757343393 0.00004
NM_001267550.2(TTN):c.82692G>A (p.Ala27564=) rs557628408 0.00004
NM_001267550.2(TTN):c.85308C>T (p.Ala28436=) rs765611726 0.00004
NM_001267550.2(TTN):c.86949A>G (p.Glu28983=) rs375565646 0.00004
NM_001267550.2(TTN):c.92716G>A (p.Asp30906Asn) rs534881266 0.00004
NM_001267550.2(TTN):c.96390G>A (p.Thr32130=) rs200999706 0.00004
NM_001276345.2(TNNT2):c.461G>A (p.Arg154Gln) rs745632066 0.00004
NM_001276345.2(TNNT2):c.52+13G>A rs376820377 0.00004
NM_001308093.3(GATA4):c.860C>T (p.Ala287Val) rs116430078 0.00004
NM_001323289.2(CDKL5):c.100-7C>T rs752279222 0.00004
NM_001330588.2(TPP2):c.495+4G>C rs376579048 0.00004
NM_001370466.1(NOD2):c.1088A>T (p.Asp363Val) rs769622495 0.00004
NM_001376.5(DYNC1H1):c.10627-16C>T rs762039479 0.00004
NM_001384732.1(CPLANE1):c.662T>C (p.Val221Ala) rs370118778 0.00004
NM_001386795.1(DTNA):c.2168C>T (p.Thr723Met) rs200977103 0.00004
NM_001458.5(FLNC):c.1936G>A (p.Asp646Asn) rs372668691 0.00004
NM_001458.5(FLNC):c.6864C>T (p.Val2288=) rs761269440 0.00004
NM_001572.5(IRF7):c.180C>T (p.Phe60=) rs772718686 0.00004
NM_001605.3(AARS1):c.1102C>T (p.Pro368Ser) rs371184292 0.00004
NM_001943.5(DSG2):c.390C>T (p.Tyr130=) rs369489095 0.00004
NM_001943.5(DSG2):c.593A>G (p.Tyr198Cys) rs786204291 0.00004
NM_002087.4(GRN):c.709-12G>C rs771557106 0.00004
NM_002230.4(JUP):c.1945C>T (p.Leu649=) rs149148171 0.00004
NM_002294.3(LAMP2):c.*2771A>G rs747304113 0.00004
NM_002335.4(LRP5):c.91+9G>C rs569517144 0.00004
NM_002474.3(MYH11):c.1575+7G>A rs754750176 0.00004
NM_002641.4(PIGA):c.981+8G>A rs778602062 0.00004
NM_002661.5(PLCG2):c.183C>T (p.Ile61=) rs553657822 0.00004
NM_002834.5(PTPN11):c.173A>G (p.Asn58Ser) rs751437780 0.00004
NM_003119.4(SPG7):c.861+2dup rs771256761 0.00004
NM_003239.5(TGFB3):c.288C>T (p.Thr96=) rs201047560 0.00004
NM_003467.3(CXCR4):c.87C>T (p.Phe29=) rs768296315 0.00004
NM_003476.5(CSRP3):c.365G>A (p.Arg122Gln) rs193922667 0.00004
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) rs72549395 0.00004
NM_004006.3(DMD):c.10223C>T (p.Thr3408Ile) rs777510517 0.00004
NM_004211.5(SLC6A5):c.2114A>G (p.Tyr705Cys) rs143918578 0.00004
NM_004415.4(DSP):c.8500C>T (p.Arg2834Cys) rs753033333 0.00004
NM_004517.4(ILK):c.551A>C (p.Lys184Thr) rs762454800 0.00004
NM_005051.3(QARS1):c.1542A>G (p.Pro514=) rs370232570 0.00004
NM_005097.4(LGI1):c.744G>A (p.Glu248=) rs199916185 0.00004
NM_005359.6(SMAD4):c.228A>G (p.Arg76=) rs587780556 0.00004
NM_006393.3(NEBL):c.311G>A (p.Arg104Gln) rs537661572 0.00004
NM_007078.3(LDB3):c.867C>T (p.Asp289=) rs397517227 0.00004
NM_007078.3(LDB3):c.944C>T (p.Pro315Leu) rs371649487 0.00004
NM_007118.4(TRIO):c.2964C>T (p.Cys988=) rs144236504 0.00004
NM_007126.5(VCP):c.446-17A>G rs543629555 0.00004
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly) rs28897672 0.00004
NM_012186.3(FOXE3):c.334C>T (p.Pro112Ser) rs745571457 0.00004
NM_013266.4(CTNNA3):c.1721T>C (p.Leu574Pro) rs375428912 0.00004
NM_014000.3(VCL):c.1177-14G>A rs778137720 0.00004
NM_014000.3(VCL):c.1206G>A (p.Pro402=) rs779265817 0.00004
NM_015102.5(NPHP4):c.1764-5C>T rs370899989 0.00004
NM_016203.4(PRKAG2):c.981A>G (p.Leu327=) rs764162597 0.00004
NM_016464.5(TMEM138):c.387G>A (p.Leu129=) rs553815473 0.00004
NM_017617.5(NOTCH1):c.2772C>T (p.Asp924=) rs762732089 0.00004
NM_017617.5(NOTCH1):c.3121G>A (p.Gly1041Ser) rs375260339 0.00004
NM_017617.5(NOTCH1):c.5168-4G>A rs751709616 0.00004
NM_017617.5(NOTCH1):c.5421C>T (p.Asp1807=) rs376590737 0.00004
NM_018136.5(ASPM):c.3811C>T (p.Arg1271Ter) rs140602858 0.00004
NM_018136.5(ASPM):c.9190C>T (p.Arg3064Ter) rs199422185 0.00004
NM_019842.4(KCNQ5):c.2405G>A (p.Arg802His) rs772426088 0.00004
NM_020774.4(MIB1):c.138G>A (p.Glu46=) rs376396687 0.00004
NM_020778.5(ALPK3):c.2444G>A (p.Gly815Glu) rs199907297 0.00004
NM_021625.5(TRPV4):c.2010C>T (p.Leu670=) rs755755753 0.00004
NM_021942.6(TRAPPC11):c.1287+5G>A rs397509418 0.00004
NM_022168.4(IFIH1):c.1642-8A>G rs772580594 0.00004
NM_024334.3(TMEM43):c.121A>G (p.Met41Val) rs144334386 0.00004
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu) rs62625272 0.00004
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) rs398122978 0.00004
NM_025132.4(WDR19):c.641T>A (p.Leu214Ter) rs751290509 0.00004
NM_033118.4(MYLK2):c.417C>T (p.Ala139=) rs560951755 0.00004
NM_033337.3(CAV3):c.201C>A (p.Val67=) rs201593267 0.00004
NM_080680.3(COL11A2):c.544G>A (p.Val182Ile) rs375937729 0.00004
NM_144573.4(NEXN):c.1471G>C (p.Glu491Gln) rs373057251 0.00004
NM_144573.4(NEXN):c.249G>A (p.Glu83=) rs372532824 0.00004
NM_152274.5(CCNQ):c.501C>T (p.Ala167=) rs782615471 0.00004
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys) rs374726751 0.00004
NM_170707.4(LMNA):c.992G>A (p.Arg331Gln) rs59301204 0.00004
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met) rs587777577 0.00004
NM_182961.4(SYNE1):c.2893-13C>T rs148337270 0.00004
NM_000022.4(ADA):c.1079-7C>T rs551934402 0.00003
NM_000051.4(ATM):c.1661C>T (p.Thr554Met) rs1060501694 0.00003
NM_000053.4(ATP7B):c.2484C>T (p.Gly828=) rs570594838 0.00003
NM_000059.4(BRCA2):c.3254A>G (p.His1085Arg) rs80358570 0.00003
NM_000064.4(C3):c.4520G>A (p.Arg1507His) rs551187980 0.00003
NM_000073.3(CD3G):c.205A>T (p.Lys69Ter) rs199676861 0.00003
NM_000085.5(CLCNKB):c.968+1G>A rs201204502 0.00003
NM_000090.4(COL3A1):c.3576C>T (p.Ala1192=) rs574331101 0.00003
NM_000116.5(TAFAZZIN):c.371-6C>A rs782195445 0.00003
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val) rs200909606 0.00003
NM_000132.4(F8):c.733C>T (p.Arg245Trp) rs781943956 0.00003
NM_000152.5(GAA):c.2105G>A (p.Arg702His) rs398123172 0.00003
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415 0.00003
NM_000152.5(GAA):c.925G>A (p.Gly309Arg) rs543300039 0.00003
NM_000169.3(GLA):c.416A>G (p.Asn139Ser) rs138886989 0.00003
NM_000243.3(MEFV):c.2164G>A (p.Val722Met) rs104895201 0.00003
NM_000257.4(MYH7):c.611G>A (p.Arg204His) rs397516260 0.00003
NM_000277.3(PAH):c.311C>A (p.Ala104Asp) rs62642929 0.00003
NM_000277.3(PAH):c.937G>A (p.Ala313Thr) rs62642912 0.00003
NM_000286.3(PEX12):c.126+1G>T rs144259891 0.00003
NM_000298.6(PKLR):c.401T>A (p.Val134Asp) rs574051756 0.00003
NM_000335.5(SCN5A):c.1663G>A (p.Glu555Lys) rs199473123 0.00003
NM_000335.5(SCN5A):c.2253C>T (p.Val751=) rs371649934 0.00003
NM_000335.5(SCN5A):c.3401G>T (p.Ser1134Ile) rs557957405 0.00003
NM_000371.4(TTR):c.70-9T>C rs764059061 0.00003
NM_000393.5(COL5A2):c.537G>A (p.Pro179=) rs762891893 0.00003
NM_000489.6(ATRX):c.2001G>A (p.Pro667=) rs139997330 0.00003
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn) rs104894503 0.00003
NM_001035.3(RYR2):c.13593G>A (p.Lys4531=) rs548313130 0.00003
NM_001035.3(RYR2):c.14152-15G>A rs371785571 0.00003
NM_001065.4(TNFRSF1A):c.1038C>G (p.His346Gln) rs201994938 0.00003
NM_001103.4(ACTN2):c.1162T>A (p.Trp388Arg) rs376144003 0.00003
NM_001103.4(ACTN2):c.1541T>C (p.Ile514Thr) rs371954663 0.00003
NM_001103.4(ACTN2):c.1984C>T (p.Arg662Trp) rs150021739 0.00003
NM_001110792.2(MECP2):c.967A>G (p.Thr323Ala) rs782208190 0.00003
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met) rs61751445 0.00003
NM_001126108.2(SLC12A3):c.815T>C (p.Leu272Pro) rs568513106 0.00003
NM_001127222.2(CACNA1A):c.7052G>A (p.Gly2351Glu) rs1442777428 0.00003
NM_001134363.3(RBM20):c.2358C>T (p.Asp786=) rs1045844360 0.00003
NM_001159699.2(FHL1):c.792C>T (p.Tyr264=) rs755385158 0.00003
NM_001161352.2(KCNMA1):c.2340C>T (p.Asn780=) rs767100016 0.00003
NM_001242896.3(DEPDC5):c.3461C>T (p.Ser1154Phe) rs578244490 0.00003
NM_001261826.3(AP3D1):c.309C>T (p.His103=) rs371510538 0.00003
NM_001267550.2(TTN):c.26893G>A (p.Glu8965Lys) rs200325324 0.00003
NM_001267550.2(TTN):c.28137A>G (p.Ile9379Met) rs1060500516 0.00003
NM_001267550.2(TTN):c.30444G>A (p.Ser10148=) rs367901929 0.00003
NM_001267550.2(TTN):c.45779T>C (p.Leu15260Pro) rs552053581 0.00003
NM_001267550.2(TTN):c.46697-19_46697-18del rs530484268 0.00003
NM_001267550.2(TTN):c.50355-15T>C rs757425897 0.00003
NM_001267550.2(TTN):c.54140C>T (p.Ala18047Val) rs373815064 0.00003
NM_001267550.2(TTN):c.5741C>T (p.Ala1914Val) rs374203813 0.00003
NM_001267550.2(TTN):c.63330G>A (p.Ala21110=) rs727504885 0.00003
NM_001267550.2(TTN):c.64916G>A (p.Arg21639Gln) rs373282633 0.00003
NM_001267550.2(TTN):c.72271G>C (p.Asp24091His) rs878924658 0.00003
NM_001267550.2(TTN):c.87815A>G (p.Tyr29272Cys) rs886039083 0.00003
NM_001267550.2(TTN):c.90845C>T (p.Thr30282Met) rs756769026 0.00003
NM_001267550.2(TTN):c.93940G>A (p.Gly31314Ser) rs368608059 0.00003
NM_001308093.3(GATA4):c.1067C>G (p.Thr356Ser) rs200167770 0.00003
NM_001329943.3(KIAA0586):c.2536del (p.Val846fs) rs1307758243 0.00003
NM_001330260.2(SCN8A):c.3957C>T (p.Ala1319=) rs764790057 0.00003
NM_001360.3(DHCR7):c.3G>A (p.Met1Ile) rs121909767 0.00003
NM_001367721.1(CASK):c.1686T>C (p.Ser562=) rs758121698 0.00003
NM_001378454.1(ALMS1):c.11283C>T (p.Val3761=) rs183916999 0.00003
NM_001382567.1(STIM1):c.1611A>G (p.Pro537=) rs199512211 0.00003
NM_001458.5(FLNC):c.5273G>A (p.Arg1758Gln) rs573984029 0.00003
NM_001458.5(FLNC):c.602-16T>A rs1236096502 0.00003
NM_001458.5(FLNC):c.7545C>T (p.Leu2515=) rs369791058 0.00003
NM_001943.5(DSG2):c.1376A>G (p.Tyr459Cys) rs576404380 0.00003
NM_001943.5(DSG2):c.2340G>T (p.Ala780=) rs375539435 0.00003
NM_002471.4(MYH6):c.3583C>T (p.Arg1195Cys) rs769756450 0.00003
NM_002471.4(MYH6):c.3860-15T>G rs200883903 0.00003
NM_002471.4(MYH6):c.4959+12C>T rs371661383 0.00003
NM_002641.4(PIGA):c.1421G>T (p.Gly474Val) rs142772459 0.00003
NM_002667.5(PLN):c.26G>A (p.Arg9His) rs754782171 0.00003
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) rs376607329 0.00003
NM_003042.4(SLC6A1):c.582G>A (p.Glu194=) rs372085480 0.00003
NM_003098.3(SNTA1):c.114C>T (p.Asp38=) rs780018849 0.00003
NM_003476.5(CSRP3):c.140C>T (p.Thr47Met) rs397516851 0.00003
NM_003611.3(OFD1):c.1694T>C (p.Val565Ala) rs529916753 0.00003
NM_003673.4(TCAP):c.208C>T (p.Arg70Trp) rs775636212 0.00003
NM_004006.3(DMD):c.6614+7C>T rs180719577 0.00003
NM_004006.3(DMD):c.9649T>C (p.Tyr3217His) rs766981643 0.00003
NM_004260.4(RECQL4):c.20T>G (p.Val7Gly) rs781721739 0.00003
NM_004281.4(BAG3):c.483G>A (p.Gln161=) rs758279156 0.00003
NM_004415.4(DSP):c.1904-17C>G rs370715047 0.00003
NM_004415.4(DSP):c.3650C>T (p.Thr1217Met) rs535202724 0.00003
NM_004415.4(DSP):c.6368G>A (p.Arg2123His) rs142272846 0.00003
NM_005572.4(LMNA):c.1712G>A (p.Arg571His) rs200917748 0.00003
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter) rs104893950 0.00003
NM_005751.5(AKAP9):c.4872A>G (p.Glu1624=) rs570384292 0.00003
NM_007254.4(PNKP):c.817-12C>T rs369567366 0.00003
NM_007294.4(BRCA1):c.-19-22A>G rs774892235 0.00003
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val) rs80356740 0.00003
NM_017617.5(NOTCH1):c.1801G>A (p.Glu601Lys) rs749381544 0.00003
NM_017617.5(NOTCH1):c.2003C>T (p.Pro668Leu) rs576030298 0.00003
NM_018941.4(CLN8):c.470A>G (p.His157Arg) rs149308952 0.00003
NM_020297.4(ABCC9):c.1416T>C (p.Phe472=) rs777308898 0.00003
NM_020822.3(KCNT1):c.130G>T (p.Gly44Cys) rs773228285 0.00003
NM_020975.6(RET):c.2331C>T (p.Asn777=) rs753977221 0.00003
NM_024422.6(DSC2):c.870A>G (p.Pro290=) rs142653119 0.00003
NM_030777.4(SLC2A10):c.306C>T (p.Val102=) rs530216827 0.00003
NM_031407.7(HUWE1):c.4827C>T (p.Tyr1609=) rs782435043 0.00003
NM_144573.4(NEXN):c.1053+1G>A rs397517843 0.00003
NM_152564.5(VPS13B):c.5761A>G (p.Thr1921Ala) rs112749780 0.00003
NM_152564.5(VPS13B):c.581-10T>C rs770058631 0.00003
NM_170707.4(LMNA):c.1001G>A (p.Ser334Asn) rs370656306 0.00003
NM_206937.2(LIG4):c.1954G>A (p.Val652Ile) rs754457967 0.00003
NM_207361.6(FREM2):c.1250T>C (p.Leu417Pro) rs571694324 0.00003
NM_000038.6(APC):c.835-3T>C rs372090940 0.00002
NM_000059.4(BRCA2):c.2459A>G (p.Asp820Gly) rs80358511 0.00002
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe) rs80358980 0.00002
NM_000059.4(BRCA2):c.8331+16C>G rs730881595 0.00002
NM_000059.4(BRCA2):c.9234C>T (p.Val3078=) rs587782428 0.00002
NM_000081.4(LYST):c.2757G>A (p.Ser919=) rs753541871 0.00002
NM_000081.4(LYST):c.9834T>C (p.Thr3278=) rs901343967 0.00002
NM_000090.4(COL3A1):c.186C>T (p.Cys62=) rs764749176 0.00002
NM_000116.5(TAFAZZIN):c.254G>A (p.Arg85His) rs782196269 0.00002
NM_000116.5(TAFAZZIN):c.351G>A (p.Lys117=) rs782564325 0.00002
NM_000117.3(EMD):c.276C>T (p.Asp92=) rs782680849 0.00002
NM_000138.5(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054 0.00002
NM_000142.5(FGFR3):c.870C>T (p.His290=) rs370518637 0.00002
NM_000156.6(GAMT):c.642G>A (p.Leu214=) rs746723263 0.00002
NM_000214.3(JAG1):c.2049C>T (p.Arg683=) rs1389234825 0.00002
NM_000218.3(KCNQ1):c.590C>T (p.Pro197Leu) rs200108320 0.00002
NM_000219.6(KCNE1):c.142C>T (p.Leu48Phe) rs75610894 0.00002
NM_000219.6(KCNE1):c.174C>G (p.Thr58=) rs727503101 0.00002
NM_000238.4(KCNH2):c.1558-6C>T rs777107971 0.00002
NM_000243.3(MEFV):c.56A>G (p.Tyr19Cys) rs769605806 0.00002
NM_000243.3(MEFV):c.955G>A (p.Glu319Lys) rs104895110 0.00002
NM_000256.3(MYBPC3):c.133G>A (p.Gly45Arg) rs775837337 0.00002
NM_000256.3(MYBPC3):c.2112C>T (p.Asp704=) rs547477069 0.00002
NM_000256.3(MYBPC3):c.2275G>A (p.Glu759Lys) rs750810342 0.00002
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723 0.00002
NM_000256.3(MYBPC3):c.26-2A>G rs376395543 0.00002
NM_000256.3(MYBPC3):c.2877G>A (p.Thr959=) rs727503181 0.00002
NM_000256.3(MYBPC3):c.818G>A (p.Arg273His) rs376461745 0.00002
NM_000257.4(MYH7):c.1384A>T (p.Ile462Phe) rs397516105 0.00002
NM_000257.4(MYH7):c.3056C>A (p.Thr1019Asn) rs755392435 0.00002
NM_000257.4(MYH7):c.354G>A (p.Ser118=) rs368925624 0.00002
NM_000257.4(MYH7):c.4076G>A (p.Arg1359His) rs750836033 0.00002
NM_000257.4(MYH7):c.5736C>T (p.Ile1912=) rs200728597 0.00002
NM_000258.3(MYL3):c.187C>T (p.Arg63Cys) rs565312070 0.00002
NM_000277.3(PAH):c.842+5G>A rs62516146 0.00002
NM_000335.5(SCN5A):c.1308G>A (p.Glu436=) rs555224775 0.00002
NM_000335.5(SCN5A):c.3381C>T (p.Cys1127=) rs561922849 0.00002
NM_000335.5(SCN5A):c.3732G>A (p.Met1244Ile) rs753677814 0.00002
NM_000363.5(TNNI3):c.543C>T (p.Thr181=) rs926550445 0.00002
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn) rs104895380 0.00002
NM_000487.6(ARSA):c.346C>T (p.Arg116Ter) rs761860059 0.00002
NM_000540.3(RYR1):c.3877C>A (p.Pro1293Thr) rs146407179 0.00002
NM_000548.5(TSC2):c.2358C>T (p.Arg786=) rs372834284 0.00002
NM_000702.4(ATP1A2):c.589G>A (p.Val197Ile) rs540087535 0.00002
NM_001005242.3(PKP2):c.1379-1972G>A rs779392697 0.00002
NM_001035.3(RYR2):c.9259C>T (p.Pro3087Ser) rs777736127 0.00002
NM_001037.5(SCN1B):c.546C>T (p.Tyr182=) rs775659068 0.00002
NM_001042432.2(CLN3):c.240G>A (p.Thr80=) rs373911322 0.00002
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter) rs267606814 0.00002
NM_001105206.3(LAMA4):c.815-13G>A rs372004668 0.00002
NM_001110556.2(FLNA):c.4368C>T (p.Pro1456=) rs782080545 0.00002
NM_001110556.2(FLNA):c.5160C>T (p.Tyr1720=) rs782152127 0.00002
NM_001110556.2(FLNA):c.6503-9A>G rs781919390 0.00002
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) rs137852972 0.00002
NM_001127222.2(CACNA1A):c.3000G>A (p.Glu1000=) rs965510264 0.00002
NM_001127222.2(CACNA1A):c.6013G>A (p.Ala2005Thr) rs374063403 0.00002
NM_001134363.3(RBM20):c.3550G>A (p.Ala1184Thr) rs1300657058 0.00002
NM_001195248.2(APTX):c.559C>T (p.Gln187Ter) rs770579215 0.00002
NM_001195518.2(MICU1):c.735+1G>A rs369915689 0.00002
NM_001243133.2(NLRP3):c.1642C>T (p.Arg548Cys) rs201678213 0.00002
NM_001243133.2(NLRP3):c.2419G>A (p.Ala807Thr) rs201096167 0.00002
NM_001267550.2(TTN):c.105562A>C (p.Ile35188Leu) rs727504491 0.00002
NM_001267550.2(TTN):c.16576A>C (p.Asn5526His) rs752558197 0.00002
NM_001267550.2(TTN):c.1851A>C (p.Thr617=) rs727504530 0.00002
NM_001267550.2(TTN):c.343G>A (p.Val115Met) rs564777385 0.00002
NM_001267550.2(TTN):c.35351G>A (p.Arg11784His) rs756874306 0.00002
NM_001267550.2(TTN):c.38465-14T>C rs887421079 0.00002
NM_001267550.2(TTN):c.3989G>A (p.Arg1330His) rs761402128 0.00002
NM_001267550.2(TTN):c.45498C>T (p.Asp15166=) rs752554634 0.00002
NM_001267550.2(TTN):c.47712T>C (p.Asp15904=) rs1397706325 0.00002
NM_001267550.2(TTN):c.49570C>T (p.Arg16524Cys) rs779336886 0.00002
NM_001267550.2(TTN):c.55808C>T (p.Pro18603Leu) rs531760043 0.00002
NM_001267550.2(TTN):c.57405A>G (p.Gln19135=) rs773605848 0.00002
NM_001267550.2(TTN):c.60314T>G (p.Val20105Gly) rs727504490 0.00002
NM_001267550.2(TTN):c.69554G>A (p.Arg23185Gln) rs201448988 0.00002
NM_001267550.2(TTN):c.732C>T (p.Ala244=) rs761859812 0.00002
NM_001267550.2(TTN):c.7331-11T>C rs1198109375 0.00002
NM_001267550.2(TTN):c.80717G>A (p.Arg26906Gln) rs536183519 0.00002
NM_001267550.2(TTN):c.87041G>A (p.Arg29014Gln) rs772536290 0.00002
NM_001267550.2(TTN):c.97510G>A (p.Glu32504Lys) rs768612570 0.00002
NM_001276345.2(TNNT2):c.282A>G (p.Arg94=) rs397516453 0.00002
NM_001289808.2(CRYAB):c.516C>A (p.Ala172=) rs143500486 0.00002
NM_001308093.3(GATA4):c.786+15C>T rs374933423 0.00002
NM_001399.5(EDA):c.463C>T (p.Arg155Cys) rs132630312 0.00002
NM_001458.5(FLNC):c.1976T>G (p.Leu659Arg) rs576402053 0.00002
NM_001458.5(FLNC):c.5124G>A (p.Ala1708=) rs764707313 0.00002
NM_001458.5(FLNC):c.7382G>A (p.Ser2461Asn) rs550547714 0.00002
NM_001458.5(FLNC):c.977T>C (p.Val326Ala) rs570010538 0.00002
NM_001845.6(COL4A1):c.1239G>A (p.Pro413=) rs572045661 0.00002
NM_001927.4(DES):c.1308G>C (p.Arg436Ser) rs985185092 0.00002
NM_001999.4(FBN2):c.811A>C (p.Thr271Pro) rs201988564 0.00002
NM_002087.4(GRN):c.139-3T>C rs371119011 0.00002
NM_002180.3(IGHMBP2):c.2979G>A (p.Thr993=) rs201760315 0.00002
NM_002230.4(JUP):c.654G>A (p.Gly218=) rs112105828 0.00002
NM_002471.4(MYH6):c.3468C>T (p.Gly1156=) rs545420992 0.00002
NM_002471.4(MYH6):c.4010C>T (p.Ser1337Leu) rs758922922 0.00002
NM_002471.4(MYH6):c.4059A>G (p.Thr1353=) rs780653498 0.00002
NM_002474.3(MYH11):c.1077C>T (p.Ile359=) rs763238555 0.00002
NM_003041.4(SLC5A2):c.1102C>T (p.Arg368Trp) rs148410166 0.00002
NM_003183.6(ADAM17):c.2346C>T (p.Phe782=) rs201360504 0.00002
NM_003239.5(TGFB3):c.324C>T (p.Phe108=) rs779502039 0.00002
NM_004006.3(DMD):c.1945C>T (p.Arg649Trp) rs770572107 0.00002
NM_004006.3(DMD):c.6072T>C (p.Cys2024=) rs373804251 0.00002
NM_004415.4(DSP):c.1903+4G>A rs757726608 0.00002
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=) rs372440854 0.00002
NM_004415.4(DSP):c.3729A>G (p.Ser1243=) rs150241609 0.00002
NM_004415.4(DSP):c.5324G>T (p.Arg1775Ile) rs34738426 0.00002
NM_004415.4(DSP):c.82T>G (p.Tyr28Asp) rs766454930 0.00002
NM_004415.4(DSP):c.8394T>A (p.Thr2798=) rs775346694 0.00002
NM_004484.4(GPC3):c.485A>G (p.Asn162Ser) rs780431445 0.00002
NM_005045.4(RELN):c.9933C>T (p.Gly3311=) rs532153046 0.00002
NM_005477.3(HCN4):c.1818C>T (p.Ser606=) rs1247778865 0.00002
NM_005633.4(SOS1):c.2996A>G (p.Asn999Ser) rs765070830 0.00002
NM_006306.4(SMC1A):c.1254+4G>A rs781824288 0.00002
NM_007294.4(BRCA1):c.212+16A>G rs1057522049 0.00002
NM_007294.4(BRCA1):c.5074+6C>G rs80358032 0.00002
NM_013266.4(CTNNA3):c.2104A>G (p.Ile702Val) rs1197911296 0.00002
NM_013266.4(CTNNA3):c.67G>A (p.Val23Met) rs776250185 0.00002
NM_013275.6(ANKRD11):c.5274C>T (p.Pro1758=) rs367764283 0.00002
NM_014009.4(FOXP3):c.70C>T (p.Pro24Ser) rs1557116742 0.00002
NM_014141.6(CNTNAP2):c.1603G>A (p.Glu535Lys) rs76475298 0.00002
NM_014141.6(CNTNAP2):c.3303C>T (p.Asp1101=) rs772181075 0.00002
NM_014476.6(PDLIM3):c.803C>T (p.Pro268Leu) rs1188446991 0.00002
NM_014639.4(SKIC3):c.2369C>T (p.Ala790Val) rs750530127 0.00002
NM_015102.5(NPHP4):c.578C>T (p.Pro193Leu) rs779760001 0.00002
NM_015991.4(C1QA):c.271C>T (p.Leu91Phe) rs567106778 0.00002
NM_016734.3(PAX5):c.476-3C>T rs372871442 0.00002
NM_017617.5(NOTCH1):c.1245G>A (p.Glu415=) rs768028742 0.00002
NM_017780.4(CHD7):c.6446G>T (p.Gly2149Val) rs369433978 0.00002
NM_017837.4(PIGV):c.494C>A (p.Ala165Glu) rs376328153 0.00002
NM_018685.5(ANLN):c.688C>T (p.Pro230Ser) rs369437029 0.00002
NM_020297.4(ABCC9):c.3221A>G (p.Asn1074Ser) rs765629988 0.00002
NM_020297.4(ABCC9):c.3331T>C (p.Leu1111=) rs764155671 0.00002
NM_020297.4(ABCC9):c.3492C>T (p.Asp1164=) rs1030398826 0.00002
NM_020433.5(JPH2):c.1564C>T (p.Arg522Trp) rs770850932 0.00002
NM_022454.4(SOX17):c.867A>T (p.Pro289=) rs778271163 0.00002
NM_024334.3(TMEM43):c.1000+16G>A rs377252553 0.00002
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys) rs575957641 0.00002
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter) rs539400286 0.00002
NM_030787.4(CFHR5):c.1029G>A (p.Lys343=) rs555221057 0.00002
NM_053025.4(MYLK):c.304G>C (p.Gly102Arg) rs1345796517 0.00002
NM_144573.4(NEXN):c.1368A>C (p.Gly456=) rs397517845 0.00002
NM_144573.4(NEXN):c.874G>A (p.Asp292Asn) rs373377525 0.00002
NM_153026.3(PRICKLE1):c.861T>C (p.Ser287=) rs537302175 0.00002
NM_170707.4(LMNA):c.1038C>T (p.Ala346=) rs1019030652 0.00002
NM_170707.4(LMNA):c.1879C>T (p.Arg627Cys) rs777841827 0.00002
NM_182746.3(MCM4):c.714C>T (p.Asp238=) rs924803520 0.00002
NM_198428.3(BBS9):c.2059A>G (p.Lys687Glu) rs760800602 0.00002
NM_207361.6(FREM2):c.2206C>T (p.Arg736Ter) rs939534674 0.00002
NM_000051.4(ATM):c.4420C>G (p.His1474Asp) rs587779840 0.00001
NM_000053.4(ATP7B):c.1847G>A (p.Arg616Gln) rs752850609 0.00001
NM_000053.4(ATP7B):c.2463C>T (p.Pro821=) rs755237462 0.00001
NM_000053.4(ATP7B):c.51+4A>T rs369488210 0.00001
NM_000059.4(BRCA2):c.3330A>C (p.Glu1110Asp) rs369294255 0.00001
NM_000059.4(BRCA2):c.5857G>T (p.Glu1953Ter) rs80358814 0.00001
NM_000064.4(C3):c.1908C>T (p.Ala636=) rs757684194 0.00001
NM_000070.3(CAPN3):c.1342C>T (p.Arg448Cys) rs776043976 0.00001
NM_000081.4(LYST):c.5037T>C (p.Gly1679=) rs753293453 0.00001
NM_000081.4(LYST):c.6216A>G (p.Val2072=) rs371248013 0.00001
NM_000091.5(COL4A3):c.1918G>A (p.Gly640Arg) rs200672668 0.00001
NM_000092.5(COL4A4):c.2690G>A (p.Gly897Glu) rs121912860 0.00001
NM_000093.5(COL5A1):c.1005C>T (p.Ile335=) rs761397885 0.00001
NM_000093.5(COL5A1):c.3725C>T (p.Thr1242Ile) rs769091549 0.00001
NM_000132.4(F8):c.5122C>T (p.Arg1708Cys) rs111033613 0.00001
NM_000132.4(F8):c.5954G>A (p.Arg1985Gln) rs1490417405 0.00001
NM_000138.5(FBN1):c.6659G>A (p.Arg2220Gln) rs780651466 0.00001
NM_000152.5(GAA):c.1799G>A (p.Arg600His) rs377544304 0.00001
NM_000152.5(GAA):c.2331+2T>A rs1057517148 0.00001
NM_000152.5(GAA):c.875A>G (p.Tyr292Cys) rs1057516600 0.00001
NM_000169.3(GLA):c.1196G>C (p.Trp399Ser) rs782449839 0.00001
NM_000170.3(GLDC):c.3002C>A (p.Thr1001Asn) rs555776146 0.00001
NM_000170.3(GLDC):c.806C>T (p.Thr269Met) rs386833587 0.00001
NM_000238.4(KCNH2):c.473-6C>T rs751673669 0.00001
NM_000243.3(MEFV):c.2296A>C (p.Asn766His) rs148707371 0.00001
NM_000243.3(MEFV):c.536G>A (p.Ser179Asn) rs104895125 0.00001
NM_000256.3(MYBPC3):c.1091-8G>A rs749622191 0.00001
NM_000256.3(MYBPC3):c.148A>G (p.Ser50Gly) rs373164247 0.00001
NM_000256.3(MYBPC3):c.1985T>C (p.Val662Ala) rs772970643 0.00001
NM_000256.3(MYBPC3):c.3776del (p.Gln1259fs) rs727503166 0.00001
NM_000256.3(MYBPC3):c.705C>T (p.Gly235=) rs767913494 0.00001
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys) rs121913625 0.00001
NM_000257.4(MYH7):c.1816G>A (p.Val606Met) rs121913627 0.00001
NM_000257.4(MYH7):c.2727C>A (p.Ile909=) rs377722048 0.00001
NM_000257.4(MYH7):c.3246-10T>C rs1333183479 0.00001
NM_000257.4(MYH7):c.328G>A (p.Gly110Ser) rs763893822 0.00001
NM_000257.4(MYH7):c.3408C>T (p.Arg1136=) rs947702752 0.00001
NM_000257.4(MYH7):c.3682C>T (p.Leu1228=) rs560995739 0.00001
NM_000257.4(MYH7):c.3828G>C (p.Gln1276His) rs1892377170 0.00001
NM_000257.4(MYH7):c.4130C>T (p.Thr1377Met) rs397516201 0.00001
NM_000257.4(MYH7):c.430G>A (p.Gly144Ser) rs1036184671 0.00001
NM_000257.4(MYH7):c.4353+6C>T rs765398896 0.00001
NM_000257.4(MYH7):c.5527A>G (p.Ser1843Gly) rs200157204 0.00001
NM_000257.4(MYH7):c.727C>T (p.Arg243Cys) rs397516265 0.00001
NM_000257.4(MYH7):c.797-17T>C rs532401716 0.00001
NM_000257.4(MYH7):c.896-17C>T rs569428750 0.00001
NM_000258.3(MYL3):c.482-18G>A rs1055139411 0.00001
NM_000276.4(OCRL):c.1944G>A (p.Ser648=) rs776881376 0.00001
NM_000285.4(PEPD):c.1125C>T (p.Asp375=) rs752440638 0.00001
NM_000297.4(PKD2):c.1249C>T (p.Arg417Ter) rs1324209174 0.00001
NM_000302.4(PLOD1):c.1097+10G>A rs562510011 0.00001
NM_000302.4(PLOD1):c.1202+14G>A rs757830518 0.00001
NM_000335.5(SCN5A):c.1820G>T (p.Gly607Val) rs757119370 0.00001
NM_000335.5(SCN5A):c.3388-3T>C rs949932623 0.00001
NM_000335.5(SCN5A):c.5664C>T (p.Tyr1888=) rs1438433663 0.00001
NM_000337.6(SGCD):c.382+11G>A rs1760629317 0.00001
NM_000359.3(TGM1):c.2059C>T (p.Arg687Cys) rs147516124 0.00001
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp) rs104894724 0.00001
NM_000363.5(TNNI3):c.585C>T (p.Ile195=) rs200085986 0.00001
NM_000363.5(TNNI3):c.606G>A (p.Glu202=) rs796474405 0.00001
NM_000416.3(IFNGR1):c.373+1G>T rs532749039 0.00001
NM_000419.5(ITGA2B):c.526C>G (p.Pro176Ala) rs2048640485 0.00001
NM_000431.4(MVK):c.500C>T (p.Pro167Leu) rs104895300 0.00001
NM_000431.4(MVK):c.59A>C (p.His20Pro) rs104895295 0.00001
NM_000434.4(NEU1):c.679G>A (p.Gly227Arg) rs769765227 0.00001
NM_000443.4(ABCB4):c.1938T>C (p.Asp646=) rs553616378 0.00001
NM_000448.3(RAG1):c.1211G>A (p.Arg404Gln) rs750055861 0.00001
NM_000481.4(AMT):c.889C>T (p.Arg297Ter) rs766422988 0.00001
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys) rs74315479 0.00001
NM_000492.4(CFTR):c.1766+5G>T rs121908796 0.00001
NM_000540.3(RYR1):c.15021G>C (p.Gln5007His) rs376293495 0.00001
NM_000540.3(RYR1):c.2113G>A (p.Gly705Arg) rs565825739 0.00001
NM_000719.7(CACNA1C):c.2579G>A (p.Arg860Gln) rs730880056 0.00001
NM_000719.7(CACNA1C):c.5023G>A (p.Ala1675Thr) rs773930851 0.00001
NM_000784.4(CYP27A1):c.646G>C (p.Ala216Pro) rs201346271 0.00001
NM_001005242.3(PKP2):c.2213T>C (p.Val738Ala) rs1555141066 0.00001
NM_001005242.3(PKP2):c.713C>T (p.Pro238Leu) rs560220280 0.00001
NM_001008537.3(NEXMIF):c.3222G>A (p.Pro1074=) rs748567167 0.00001
NM_001013838.3(CARMIL2):c.540C>T (p.Asp180=) rs745676569 0.00001
NM_001032221.6(STXBP1):c.902+10C>T rs760108945 0.00001
NM_001035.3(RYR2):c.10816G>A (p.Ala3606Thr) rs772511386 0.00001
NM_001035.3(RYR2):c.2444C>T (p.Pro815Leu) rs537596448 0.00001
NM_001035.3(RYR2):c.4359T>C (p.Tyr1453=) rs1054102228 0.00001
NM_001035.3(RYR2):c.4755C>T (p.Arg1585=) rs768562077 0.00001
NM_001042432.2(CLN3):c.1017C>G (p.Cys339Trp) rs768479701 0.00001
NM_001042432.2(CLN3):c.777G>A (p.Pro259=) rs751443804 0.00001
NM_001042492.3(NF1):c.7623G>A (p.Arg2541=) rs876660737 0.00001
NM_001077350.3(NPRL3):c.1023C>T (p.Ser341=) rs781712669 0.00001
NM_001077653.2(TBX20):c.4G>A (p.Glu2Lys) rs752468331 0.00001
NM_001080467.3(MYO5B):c.655C>T (p.Arg219Cys) rs755378266 0.00001
NM_001083116.3(PRF1):c.260G>A (p.Arg87His) rs557951406 0.00001
NM_001103.4(ACTN2):c.1256-13A>T rs778085872 0.00001
NM_001103.4(ACTN2):c.1656+16C>T rs1659326562 0.00001
NM_001103.4(ACTN2):c.2569G>C (p.Asp857His) rs533267299 0.00001
NM_001103.4(ACTN2):c.616-3C>T rs111464645 0.00001
NM_001105206.3(LAMA4):c.1778A>G (p.His593Arg) rs751004946 0.00001
NM_001105206.3(LAMA4):c.2057-2A>T rs1780342227 0.00001
NM_001105206.3(LAMA4):c.3109C>T (p.Arg1037Ter) rs782727584 0.00001
NM_001105206.3(LAMA4):c.3311A>G (p.Asn1104Ser) rs542157463 0.00001
NM_001110556.2(FLNA):c.5116G>A (p.Gly1706Ser) rs781993685 0.00001
NM_001110556.2(FLNA):c.696G>A (p.Ala232=) rs781907486 0.00001
NM_001126108.2(SLC12A3):c.514T>C (p.Trp172Arg) rs757792232 0.00001
NM_001127222.2(CACNA1A):c.3450C>T (p.Ser1150=) rs751700486 0.00001
NM_001130144.3(LTBP3):c.2913C>T (p.Cys971=) rs559704168 0.00001
NM_001130987.2(DYSF):c.3928-12G>C rs1322835903 0.00001
NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln) rs267607001 0.00001
NM_001134363.3(RBM20):c.2272G>A (p.Gly758Ser) rs1371567866 0.00001
NM_001134363.3(RBM20):c.3578A>G (p.Tyr1193Cys) rs535839168 0.00001
NM_001134831.2(AHI1):c.2174G>A (p.Trp725Ter) rs587783013 0.00001
NM_001165963.4(SCN1A):c.1910C>T (p.Ala637Val) rs1266240114 0.00001
NM_001242896.3(DEPDC5):c.2527C>T (p.Arg843Ter) rs541024038 0.00001
NM_001267550.2(TTN):c.104082A>G (p.Ser34694=) rs1413571023 0.00001
NM_001267550.2(TTN):c.105083C>T (p.Thr35028Met) rs56001826 0.00001
NM_001267550.2(TTN):c.1168G>A (p.Gly390Ser) rs794729412 0.00001
NM_001267550.2(TTN):c.1292C>T (p.Ala431Val) rs1417215136 0.00001
NM_001267550.2(TTN):c.16179T>A (p.Asp5393Glu) rs768837104 0.00001
NM_001267550.2(TTN):c.30492G>T (p.Glu10164Asp) rs1064797276 0.00001
NM_001267550.2(TTN):c.39128-16A>G rs769738352 0.00001
NM_001267550.2(TTN):c.41180G>A (p.Arg13727His) rs750520224 0.00001
NM_001267550.2(TTN):c.44272C>T (p.Arg14758Ter) rs140743001 0.00001
NM_001267550.2(TTN):c.55302G>A (p.Gln18434=) rs567251026 0.00001
NM_001267550.2(TTN):c.55432+19G>A rs1213547538 0.00001
NM_001267550.2(TTN):c.57378G>A (p.Trp19126Ter) rs1192054216 0.00001
NM_001267550.2(TTN):c.62219A>T (p.Glu20740Val) rs559490402 0.00001
NM_001267550.2(TTN):c.6383G>C (p.Trp2128Ser) rs751340835 0.00001
NM_001267550.2(TTN):c.64443G>A (p.Gly21481=) rs747850027 0.00001
NM_001267550.2(TTN):c.66780G>C (p.Glu22260Asp) rs574543857 0.00001
NM_001267550.2(TTN):c.66820C>T (p.Arg22274Cys) rs770627108 0.00001
NM_001267550.2(TTN):c.68484del (p.Lys22828fs) rs1370805955 0.00001
NM_001267550.2(TTN):c.70854A>G (p.Glu23618=) rs768115158 0.00001
NM_001267550.2(TTN):c.72105T>C (p.Phe24035=) rs397517691 0.00001
NM_001267550.2(TTN):c.7530A>G (p.Ser2510=) rs189187431 0.00001
NM_001267550.2(TTN):c.84225T>C (p.Ser28075=) rs753003337 0.00001
NM_001267550.2(TTN):c.85090C>T (p.Arg28364Ter) rs770038577 0.00001
NM_001267550.2(TTN):c.85646C>T (p.Thr28549Ile) rs774609232 0.00001
NM_001267550.2(TTN):c.87040C>T (p.Arg29014Ter) rs776065839 0.00001
NM_001267550.2(TTN):c.93154G>A (p.Val31052Met) rs764170998 0.00001
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter) rs146572907 0.00001
NM_001267550.2(TTN):c.94880T>C (p.Ile31627Thr) rs751714990 0.00001
NM_001267550.2(TTN):c.96566A>T (p.Glu32189Val) rs1002475776 0.00001
NM_001267550.2(TTN):c.97192+6G>A rs367760700 0.00001
NM_001270508.2(TNFAIP3):c.2269C>A (p.Pro757Thr) rs771436999 0.00001
NM_001276345.2(TNNT2):c.144C>T (p.Thr48=) rs746492909 0.00001
NM_001276345.2(TNNT2):c.277G>A (p.Glu93Lys) rs727504244 0.00001
NM_001276345.2(TNNT2):c.304C>T (p.Arg102Trp) rs397516456 0.00001
NM_001276345.2(TNNT2):c.431G>A (p.Arg144Gln) rs754037135 0.00001
NM_001276345.2(TNNT2):c.890G>A (p.Trp297Ter) rs727504247 0.00001
NM_001287.6(CLCN7):c.2330A>G (p.Gln777Arg) rs2038658229 0.00001
NM_001323289.2(CDKL5):c.1613C>T (p.Thr538Met) rs1413837885 0.00001
NM_001365536.1(SCN9A):c.4668C>A (p.Ile1556=) rs771245206 0.00001
NM_001375834.1(WIPF1):c.231C>T (p.Gly77=) rs772302114 0.00001
NM_001378454.1(ALMS1):c.5452C>T (p.Arg1818Ter) rs749339938 0.00001
NM_001379150.1(IRS4):c.1523A>G (p.Asn508Ser) rs769725218 0.00001
NM_001384732.1(CPLANE1):c.9669C>T (p.Leu3223=) rs571665485 0.00001
NM_001386795.1(DTNA):c.1007C>T (p.Pro336Leu) rs1293106380 0.00001
NM_001458.5(FLNC):c.2627G>T (p.Gly876Val) rs534407127 0.00001
NM_001458.5(FLNC):c.4728C>T (p.Val1576=) rs1222823077 0.00001
NM_001927.4(DES):c.1285C>T (p.Arg429Ter) rs150974575 0.00001
NM_001927.4(DES):c.66G>A (p.Pro22=) rs767502653 0.00001
NM_001927.4(DES):c.79G>A (p.Gly27Ser) rs727504877 0.00001
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln) rs121913008 0.00001
NM_001943.5(DSG2):c.145C>T (p.Arg49Cys) rs762526848 0.00001
NM_001943.5(DSG2):c.222T>C (p.His74=) rs367797047 0.00001
NM_001943.5(DSG2):c.3027A>G (p.Gln1009=) rs1383834116 0.00001
NM_001943.5(DSG2):c.445G>A (p.Val149Ile) rs372606274 0.00001
NM_001943.5(DSG2):c.874C>T (p.Arg292Cys) rs770921270 0.00001
NM_001999.4(FBN2):c.3609A>G (p.Glu1203=) rs941219425 0.00001
NM_002049.4(GATA1):c.647G>A (p.Arg216Gln) rs104894809 0.00001
NM_002230.4(JUP):c.1667T>C (p.Met556Thr) rs781884735 0.00001
NM_002230.4(JUP):c.1925-19T>G rs545000698 0.00001
NM_002230.4(JUP):c.335A>G (p.Asn112Ser) rs372364561 0.00001
NM_002230.4(JUP):c.374C>T (p.Ser125Leu) rs782527770 0.00001
NM_002317.7(LOX):c.643C>T (p.Leu215=) rs992964699 0.00001
NM_002354.3(EPCAM):c.307G>A (p.Gly103Arg) rs1346393896 0.00001
NM_002397.5(MEF2C):c.798G>A (p.Thr266=) rs761222463 0.00001
NM_002471.4(MYH6):c.1545C>T (p.Gly515=) rs200235378 0.00001
NM_002471.4(MYH6):c.5407G>C (p.Glu1803Gln) rs768893054 0.00001
NM_002471.4(MYH6):c.5653G>A (p.Glu1885Lys) rs760353963 0.00001
NM_002474.3(MYH11):c.1402-12C>G rs769036516 0.00001
NM_002474.3(MYH11):c.3294-10del rs756946356 0.00001
NM_002524.5(NRAS):c.450+12C>T rs749906475 0.00001
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_002880.4(RAF1):c.1051C>T (p.Leu351=) rs1478388712 0.00001
NM_003000.3(SDHB):c.343C>T (p.Arg115Ter) rs751000085 0.00001
NM_003000.3(SDHB):c.423+1G>A rs398122805 0.00001
NM_003002.4(SDHD):c.274G>T (p.Asp92Tyr) rs80338845 0.00001
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr) rs370558210 0.00001
NM_003052.5(SLC34A1):c.1006+1G>A rs200095793 0.00001
NM_003060.4(SLC22A5):c.95A>G (p.Asn32Ser) rs72552725 0.00001
NM_003098.3(SNTA1):c.497-5A>G rs202178576 0.00001
NM_003190.5(TAPBP):c.1014C>T (p.Gly338=) rs749398191 0.00001
NM_003283.6(TNNT1):c.309+1G>A rs149559898 0.00001
NM_003476.5(CSRP3):c.98C>T (p.Thr33Met) rs758947977 0.00001
NM_003611.3(OFD1):c.2136C>T (p.Asp712=) rs775705991 0.00001
NM_004006.3(DMD):c.3937A>G (p.Met1313Val) rs794729003 0.00001
NM_004006.3(DMD):c.9291C>T (p.Asp3097=) rs796934165 0.00001
NM_004281.4(BAG3):c.452G>A (p.Cys151Tyr) rs770678896 0.00001
NM_004281.4(BAG3):c.828G>A (p.Arg276=) rs752538980 0.00001
NM_004281.4(BAG3):c.957C>G (p.Asn319Lys) rs767223665 0.00001
NM_004415.4(DSP):c.2933T>A (p.Ile978Lys) rs1060500615 0.00001
NM_004415.4(DSP):c.6059G>C (p.Gly2020Ala) rs1327599046 0.00001
NM_004415.4(DSP):c.6423C>A (p.Val2141=) rs1455331228 0.00001
NM_004415.4(DSP):c.6930A>G (p.Leu2310=) rs1759552189 0.00001
NM_004415.4(DSP):c.695G>A (p.Arg232His) rs749438581 0.00001
NM_004415.4(DSP):c.7994C>T (p.Thr2665Met) rs151309106 0.00001
NM_004484.4(GPC3):c.1033-4249C>A rs76180513 0.00001
NM_004517.4(ILK):c.721C>T (p.Arg241Trp) rs765298592 0.00001
NM_004715.5(CTDP1):c.1723A>G (p.Ser575Gly) rs779827748 0.00001
NM_004946.3(DOCK2):c.5262C>T (p.Ala1754=) rs757478455 0.00001
NM_004958.4(MTOR):c.1500T>C (p.Asp500=) rs533405069 0.00001
NM_004960.4(FUS):c.1561C>T (p.Arg521Cys) rs121909668 0.00001
NM_005045.4(RELN):c.5100G>A (p.Glu1700=) rs1293123413 0.00001
NM_005120.3(MED12):c.3797G>A (p.Arg1266His) rs587780391 0.00001
NM_005120.3(MED12):c.6045-5T>C rs1294743596 0.00001
NM_005159.5(ACTC1):c.447T>C (p.Arg149=) rs1315206069 0.00001
NM_005159.5(ACTC1):c.617-7T>C rs750536667 0.00001
NM_005159.5(ACTC1):c.622C>T (p.Arg208Cys) rs727505179 0.00001
NM_005334.3(HCFC1):c.4194C>T (p.Ser1398=) rs782322654 0.00001
NM_005477.3(HCN4):c.1444G>C (p.Gly482Arg) rs794727637 0.00001
NM_005751.5(AKAP9):c.7788G>A (p.Glu2596=) rs777561134 0.00001
NM_005912.3(MC4R):c.493C>T (p.Arg165Trp) rs13447332 0.00001
NM_006231.4(POLE):c.1656C>T (p.Phe552=) rs1555228270 0.00001
NM_006231.4(POLE):c.3651C>T (p.Leu1217=) rs765445494 0.00001
NM_006258.4(PRKG1):c.1016T>C (p.Leu339Ser) rs775720873 0.00001
NM_006412.4(AGPAT2):c.202C>T (p.Arg68Ter) rs104894093 0.00001
NM_006950.3(SYN1):c.450T>G (p.Asp150Glu) rs1482229221 0.00001
NM_007078.3(LDB3):c.1870G>A (p.Ala624Thr) rs879218802 0.00001
NM_007078.3(LDB3):c.2091C>T (p.Cys697=) rs571356142 0.00001
NM_007126.5(VCP):c.476G>A (p.Arg159His) rs121909335 0.00001
NM_007194.4(CHEK2):c.1265G>A (p.Ser422Asn) rs549755590 0.00001
NM_007294.4(BRCA1):c.2393C>T (p.Pro798Leu) rs876660005 0.00001
NM_007294.4(BRCA1):c.4342A>G (p.Ser1448Gly) rs80357486 0.00001
NM_007294.4(BRCA1):c.4764T>C (p.Ala1588=) rs753651115 0.00001
NM_007294.4(BRCA1):c.5406+65A>C rs1325470549 0.00001
NM_013266.4(CTNNA3):c.1351C>T (p.His451Tyr) rs1844757301 0.00001
NM_013266.4(CTNNA3):c.451G>T (p.Val151Leu) rs1418212392 0.00001
NM_013266.4(CTNNA3):c.889C>T (p.Arg297Ter) rs771161312 0.00001
NM_014000.3(VCL):c.1298G>A (p.Arg433His) rs754046223 0.00001
NM_014000.3(VCL):c.1681A>G (p.Arg561Gly) rs1321164216 0.00001
NM_014000.3(VCL):c.2285G>A (p.Arg762Gln) rs540039788 0.00001
NM_014000.3(VCL):c.2848G>A (p.Glu950Lys) rs1174019524 0.00001
NM_014000.3(VCL):c.3154-6C>T rs371257509 0.00001
NM_014000.3(VCL):c.539A>G (p.Gln180Arg) rs1841681941 0.00001
NM_014000.3(VCL):c.689G>A (p.Arg230His) rs749628307 0.00001
NM_014000.3(VCL):c.875-5T>C rs1225977039 0.00001
NM_014055.4(IFT81):c.1617C>T (p.Leu539=) rs747127910 0.00001
NM_014391.3(ANKRD1):c.560C>T (p.Ser187Phe) rs397517251 0.00001
NM_015450.3(POT1):c.916A>G (p.Ile306Val) rs1415345156 0.00001
NM_015474.4(SAMHD1):c.626-5T>C rs768848252 0.00001
NM_015910.7(WDPCP):c.541C>T (p.Gln181Ter) rs749286148 0.00001
NM_016203.4(PRKAG2):c.253C>T (p.Pro85Ser) rs754570613 0.00001
NM_017617.5(NOTCH1):c.3694G>A (p.Val1232Met) rs750169914 0.00001
NM_017668.3(NDE1):c.948-39G>A rs571613839 0.00001
NM_018055.5(NODAL):c.1021G>A (p.Val341Met) rs751176757 0.00001
NM_020297.4(ABCC9):c.2324C>A (p.Pro775His) rs796559062 0.00001
NM_020297.4(ABCC9):c.842G>A (p.Arg281Gln) rs753456211 0.00001
NM_020433.5(JPH2):c.1293G>A (p.Pro431=) rs2072193158 0.00001
NM_020435.4(GJC2):c.1027G>T (p.Ala343Ser) rs1021631118 0.00001
NM_020529.3(NFKBIA):c.847A>T (p.Ser283Cys) rs989569540 0.00001
NM_020774.4(MIB1):c.1372-12T>A rs772089721 0.00001
NM_020774.4(MIB1):c.2307A>G (p.Arg769=) rs374946957 0.00001
NM_020778.5(ALPK3):c.3867C>T (p.Ser1289=) rs188837127 0.00001
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys) rs397515405 0.00001
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352 0.00001
NM_020975.6(RET):c.2370G>T (p.Leu790Phe) rs75030001 0.00001
NM_022788.5(P2RY12):c.772C>A (p.Pro258Thr) rs202099742 0.00001
NM_024334.3(TMEM43):c.1141G>A (p.Gly381Ser) rs767916602 0.00001
NM_024334.3(TMEM43):c.658C>T (p.Arg220Cys) rs562700595 0.00001
NM_024422.6(DSC2):c.2104T>C (p.Leu702=) rs753742489 0.00001
NM_024426.6(WT1):c.1568G>A (p.Ter523=) rs148856160 0.00001
NM_024426.6(WT1):c.468G>T (p.Pro156=) rs961309280 0.00001
NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu) rs142103232 0.00001
NM_024675.4(PALB2):c.1697G>A (p.Arg566His) rs144617793 0.00001
NM_024928.5(STN1):c.283G>A (p.Glu95Lys) rs1389781569 0.00001
NM_031407.7(HUWE1):c.754G>A (p.Asp252Asn) rs782531338 0.00001
NM_031844.3(HNRNPU):c.2193T>C (p.Asn731=) rs372228779 0.00001
NM_032273.4(TMEM126A):c.163C>T (p.Arg55Ter) rs121434508 0.00001
NM_032588.4(TRIM63):c.644C>T (p.Thr215Met) rs537877132 0.00001
NM_058179.4(PSAT1):c.299A>C (p.Asp100Ala) rs118203967 0.00001
NM_138694.4(PKHD1):c.10219C>T (p.Gln3407Ter) rs781368899 0.00001
NM_144573.4(NEXN):c.1364T>C (p.Ile455Thr) rs1338886488 0.00001
NM_144573.4(NEXN):c.66T>C (p.Tyr22=) rs749182975 0.00001
NM_144596.4(TTC8):c.624+1G>A rs587777808 0.00001
NM_152384.3(BBS5):c.209-2A>G rs1477098739 0.00001
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) rs386134243 0.00001
NM_170707.4(LMNA):c.1728C>T (p.Pro576=) rs767783294 0.00001
NM_170707.4(LMNA):c.1785C>T (p.Ala595=) rs748139390 0.00001
NM_170707.4(LMNA):c.1969-4T>C rs751715969 0.00001
NM_170707.4(LMNA):c.568C>T (p.Arg190Trp) rs59026483 0.00001
NM_170707.4(LMNA):c.949G>A (p.Glu317Lys) rs56816490 0.00001
NM_173842.3(IL1RN):c.229G>T (p.Glu77Ter) rs121913161 0.00001
NM_181507.2(HPS5):c.1960A>T (p.Lys654Ter) rs1179872960 0.00001
NM_182961.4(SYNE1):c.2685G>A (p.Thr895=) rs754176545 0.00001
NM_198252.3(GSN):c.487G>A (p.Asp163Asn) rs121909715 0.00001
NM_198428.3(BBS9):c.832C>T (p.Arg278Ter) rs767005321 0.00001
NM_199242.3(UNC13D):c.2695C>T (p.Arg899Ter) rs766657895 0.00001
NM_000020.3(ACVRL1):c.439C>T (p.Gln147Ter) rs1555152650
NM_000026.4(ADSL):c.357+7G>T rs199993991
NM_000043.6(FAS):c.749G>A (p.Arg250Gln) rs121913080
NM_000043.6(FAS):c.749G>C (p.Arg250Pro) rs121913080
NM_000044.6(AR):c.171GCA[20] (p.Gln78_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[26] (p.Gln78_Gln80dup) rs3032358
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs) rs587780612
NM_000051.4(ATM):c.1380G>C (p.Thr460=) rs145333518
NM_000051.4(ATM):c.1803-2A>G rs1057517358
NM_000051.4(ATM):c.2574dup (p.Asn859Ter) rs587778068
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.6529C>T (p.Gln2177Ter) rs766706861
NM_000051.4(ATM):c.8988-1G>A rs730881386
NM_000053.4(ATP7B):c.813C>A (p.Cys271Ter) rs572147914
NM_000054.7(AVPR2):c.310C>T (p.Arg104Cys) rs104894760
NM_000059.4(BRCA2):c.1796_1800del (p.Thr598_Ser599insTer) rs276174813
NM_000059.4(BRCA2):c.3074AGA[3] (p.Lys1026dup) rs1342774938
NM_000059.4(BRCA2):c.3545_3546del (p.Gln1181_Phe1182insTer) rs80359388
NM_000059.4(BRCA2):c.4130A>T (p.Asn1377Ile) rs749624669
NM_000059.4(BRCA2):c.4206T>C (p.Asn1402=) rs878853580
NM_000059.4(BRCA2):c.425+22A>G rs2137447215
NM_000059.4(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000059.4(BRCA2):c.5644T>C (p.Ser1882Pro) rs730881538
NM_000059.4(BRCA2):c.596C>T (p.Ala199Val) rs878853593
NM_000059.4(BRCA2):c.68-7dup rs276174878
NM_000059.4(BRCA2):c.7051G>T (p.Ala2351Ser) rs80358930
NM_000059.4(BRCA2):c.7388A>T (p.Asn2463Ile) rs1593918551
NM_000059.4(BRCA2):c.7617+2T>G rs81002843
NM_000059.4(BRCA2):c.7806-2A>G rs81002836
NM_000059.4(BRCA2):c.9253dup (p.Thr3085fs) rs80359752
NM_000061.3(BTK):c.1573C>T (p.Arg525Ter) rs886041149
NM_000061.3(BTK):c.862C>T (p.Arg288Trp) rs128621194
NM_000064.4(C3):c.4350+6G>C rs369993135
NM_000064.4(C3):c.4645C>A (p.Leu1549Met) rs149202905
NM_000064.4(C3):c.481C>T (p.Arg161Trp) rs776423109
NM_000066.4(C8B):c.255G>A (p.Arg85=) rs530181040
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp) rs35534614
NM_000081.4(LYST):c.5922+10A>G rs375422713
NM_000081.4(LYST):c.9785-21_9785-17del rs547173744
NM_000090.4(COL3A1):c.753del (p.Gly252fs) rs2153501973
NM_000091.5(COL4A3):c.2881G>C (p.Gly961Arg) rs1285576172
NM_000091.5(COL4A3):c.520G>T (p.Gly174Trp) rs1014839148
NM_000092.5(COL4A4):c.1848del (p.Pro617fs) rs2150476941
NM_000092.5(COL4A4):c.2174G>A (p.Gly725Asp) rs2150277040
NM_000092.5(COL4A4):c.2833G>T (p.Gly945Ter) rs1303057809
NM_000092.5(COL4A4):c.4334-3del rs780415519
NM_000093.5(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_000093.5(COL5A1):c.1390-18CT[3] rs863223441
NM_000093.5(COL5A1):c.1936-16C>G rs199694949
NM_000093.5(COL5A1):c.514G>T (p.Val172Phe) rs150147262
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_000093.5(COL5A1):c.67CTG[5] (p.Leu28del) rs773994971
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys) rs375968699
NM_000116.5(TAFAZZIN):c.324A>G (p.Leu108=) rs2068387204
NM_000117.3(EMD):c.212C>T (p.Ala71Val) rs2148128318
NM_000132.4(F8):c.1910A>G (p.Asn637Ser) rs2073315379
NM_000132.4(F8):c.2440C>T (p.Arg814Ter) rs137852437
NM_000132.4(F8):c.5399G>A (p.Arg1800His) rs137852442
NM_000132.4(F8):c.541G>A (p.Val181Met) rs137852394
NM_000132.4(F8):c.6754G>C (p.Asp2252His) rs2072683196
NM_000132.4(F8):c.6794A>G (p.Gln2265Arg) rs137852470
NM_000132.4(F8):c.6956C>T (p.Pro2319Leu) rs137852472
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.5(FBN1):c.4786C>T (p.Arg1596Ter) rs113871094
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.5(FBN1):c.7530A>G (p.Lys2510=) rs754992689
NM_000138.5(FBN1):c.8082A>C (p.Arg2694=) rs1597507799
NM_000138.5(FBN1):c.8232G>C (p.Gln2744His) rs376119827
NM_000141.5(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000143.4(FH):c.1210G>T (p.Glu404Ter) rs797044974
NM_000143.4(FH):c.1237-50TC[18] rs144131869
NM_000152.5(GAA):c.1115A>T (p.His372Leu) rs1057516520
NM_000152.5(GAA):c.1657C>T (p.Gln553Ter) rs1221156663
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000166.6(GJB1):c.151T>C (p.Phe51Leu) rs876661269
NM_000169.3(GLA):c.334C>T (p.Arg112Cys) rs104894834
NM_000169.3(GLA):c.53T>C (p.Phe18Ser) rs2147487622
NM_000169.3(GLA):c.658C>T (p.Arg220Ter) rs727503949
NM_000169.3(GLA):c.921C>G (p.Ala307=) rs2147472055
NM_000169.3(GLA):c.956T>C (p.Ile319Thr) rs2147471929
NM_000170.3(GLDC):c.1055C>G (p.Thr352Arg) rs1554648060
NM_000173.7(GP1BA):c.1305C>T (p.Thr435=) rs761456793
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000179.3(MSH6):c.642C>G (p.Tyr214Ter) rs1800937
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter) rs587779318
NM_000186.4(CFH):c.2783-3del rs748791414
NM_000208.4(INSR):c.653-23TC[11] rs3835070
NM_000213.5(ITGB4):c.2009G>A (p.Arg670His) rs149659118
NM_000214.3(JAG1):c.611A>G (p.Asp204Gly) rs2122623598
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp) rs199473411
NM_000218.3(KCNQ1):c.1174T>C (p.Trp392Arg) rs199472774
NM_000218.3(KCNQ1):c.1320C>G (p.Val440=) rs781151116
NM_000218.3(KCNQ1):c.421G>A (p.Val141Met) rs199472687
NM_000218.3(KCNQ1):c.568C>T (p.Arg190Trp) rs199473662
NM_000238.4(KCNH2):c.260T>C (p.Leu87Pro) rs199473495
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile) rs28940580
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser) rs61732874
NM_000243.3(MEFV):c.751G>A (p.Glu251Lys) rs104895111
NM_000245.4(MET):c.3658G>A (p.Val1220Ile) rs121913670
NM_000249.4(MLH1):c.1039-8_1039-7insTA rs535965616
NM_000249.4(MLH1):c.1896G>A (p.Glu632=) rs63751632
NM_000249.4(MLH1):c.901C>T (p.Gln301Ter) rs63750489
NM_000256.3(MYBPC3):c.1224-19G>A rs587776699
NM_000256.3(MYBPC3):c.1404del (p.Gln469fs) rs886037900
NM_000256.3(MYBPC3):c.149G>A (p.Ser50Asn) rs2142869623
NM_000256.3(MYBPC3):c.1586C>A (p.Thr529Asn) rs397515911
NM_000256.3(MYBPC3):c.1696T>C (p.Cys566Arg) rs730880695
NM_000256.3(MYBPC3):c.1791-1G>A rs2142859427
NM_000256.3(MYBPC3):c.2013C>T (p.Val671=) rs1168755518
NM_000256.3(MYBPC3):c.2749del (p.Val917fs) rs2142853029
NM_000256.3(MYBPC3):c.3142C>A (p.Arg1048Ser) rs11570113
NM_000256.3(MYBPC3):c.3257_3258dup (p.Lys1087fs) rs2142850930
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000256.3(MYBPC3):c.3416T>C (p.Val1139Ala) rs2142850291
NM_000256.3(MYBPC3):c.676_701dup (p.Gly235fs) rs786204329
NM_000256.3(MYBPC3):c.852-20C>A rs371941585
NM_000256.3(MYBPC3):c.932C>A (p.Ser311Ter) rs193922386
NM_000257.4(MYH7):c.1063G>A (p.Ala355Thr) rs397516088
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp) rs3218714
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln) rs121913624
NM_000257.4(MYH7):c.1291G>C (p.Val431Leu) rs606231322
NM_000257.4(MYH7):c.1319T>C (p.Val440Ala) rs1244840759
NM_000257.4(MYH7):c.1436A>C (p.Asn479Thr) rs727504236
NM_000257.4(MYH7):c.1578+13C>T rs1178580158
NM_000257.4(MYH7):c.1823T>C (p.Leu608Ser) rs2138671995
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln) rs121913641
NM_000257.4(MYH7):c.2334C>G (p.Asp778Glu) rs2069544
NM_000257.4(MYH7):c.2711G>A (p.Arg904His) rs397516165
NM_000257.4(MYH7):c.2783A>T (p.Asp928Val) rs727504558
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) rs574005462
NM_000257.4(MYH7):c.4159G>A (p.Glu1387Lys) rs730880792
NM_000257.4(MYH7):c.4327G>A (p.Asp1443Asn) rs2138646412
NM_000257.4(MYH7):c.4541A>G (p.Glu1514Gly) rs1351712658
NM_000257.4(MYH7):c.4853T>C (p.Met1618Thr) rs1257400566
NM_000257.4(MYH7):c.495G>A (p.Met165Ile) rs1555338758
NM_000257.4(MYH7):c.5368A>G (p.Ile1790Val) rs2138638553
NM_000257.4(MYH7):c.5494C>T (p.Arg1832Cys) rs201865159
NM_000257.4(MYH7):c.5534G>A (p.Arg1845Gln) rs730880822
NM_000257.4(MYH7):c.5754C>G (p.Asn1918Lys) rs138110910
NM_000257.4(MYH7):c.5773C>G (p.Arg1925Gly) rs755706526
NM_000257.4(MYH7):c.689T>C (p.Phe230Ser) rs886038844
NM_000258.3(MYL3):c.421G>A (p.Asp141Asn) rs1483805765
NM_000265.7(NCF1):c.936C>T (p.His312=) rs587594457
NM_000271.5(NPC1):c.1918G>A (p.Gly640Arg) rs2058768195
NM_000271.5(NPC1):c.1947+10G>A rs71534236
NM_000271.5(NPC1):c.1947+8_1947+12dup rs3837910
NM_000271.5(NPC1):c.1947+8_1947+9dup rs3837910
NM_000277.3(PAH):c.782G>C (p.Arg261Pro) rs5030849
NM_000278.5(PAX2):c.343C>T (p.Arg115Ter) rs1845412705
NM_000292.3(PHKA2):c.3614C>T (p.Pro1205Leu) rs137852288
NM_000297.4(PKD2):c.2286C>A (p.Tyr762Ter) rs555242193
NM_000297.4(PKD2):c.2584del (p.Ala862fs) rs2110150747
NM_000297.4(PKD2):c.290AGG[5] (p.Glu102del) rs750077647
NM_000297.4(PKD2):c.710-2A>G rs2110104722
NM_000302.4(PLOD1):c.1334T>G (p.Val445Gly) rs922997919
NM_000303.3(PMM2):c.61C>G (p.Arg21Gly) rs758340382
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000310.4(PPT1):c.627+4A>G rs572153728
NM_000334.4(SCN4A):c.483-5C>A rs191547933
NM_000335.5(SCN5A):c.2320del (p.Tyr774fs) rs2125881165
NM_000335.5(SCN5A):c.3213G>A (p.Glu1071=) rs531062263
NM_000335.5(SCN5A):c.327C>T (p.Asn109=) rs199473056
NM_000335.5(SCN5A):c.3370G>T (p.Ala1124Ser) rs796070621
NM_000335.5(SCN5A):c.481G>A (p.Glu161Lys) rs199473062
NM_000335.5(SCN5A):c.5123C>T (p.Thr1708Met) rs199473297
NM_000335.5(SCN5A):c.5225G>A (p.Gly1742Glu) rs199473629
NM_000335.5(SCN5A):c.726C>T (p.Ala242=) rs746812420
NM_000342.4(SLC4A1):c.37G>T (p.Glu13Ter) rs2144625139
NM_000363.5(TNNI3):c.373-4C>T rs2288530
NM_000363.5(TNNI3):c.539A>G (p.Asp180Gly) rs1060499912
NM_000363.5(TNNI3):c.626A>C (p.Glu209Ala) rs730881083
NM_000371.4(TTR):c.337-14_337-11del rs112263266
NM_000383.4(AIRE):c.799-17G>A rs72650675
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg) rs1800520
NM_000383.4(AIRE):c.967_979del (p.Leu323fs) rs386833675
NM_000391.4(TPP1):c.1142C>G (p.Ser381Cys) rs1241569976
NM_000417.3(IL2RA):c.76G>C (p.Asp26His) rs55868253
NM_000431.4(MVK):c.185G>A (p.Trp62Ter) rs104895306
NM_000431.4(MVK):c.925G>A (p.Gly309Ser) rs104895305
NM_000443.4(ABCB4):c.1893G>C (p.Gln631His) rs1810212221
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
NM_000458.4(HNF1B):c.345-4C>T rs200590728
NM_000458.4(HNF1B):c.544+1G>A
NM_000483.5(APOC2):c.195C>A (p.Pro65=) rs145771233
NM_000487.6(ARSA):c.1079T>C (p.Leu360Pro) rs2082658031
NM_000489.6(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.6(ATRX):c.5787-24GTTT[4] rs782072699
NM_000490.5(AVP):c.260C>A (p.Ser87Tyr) rs121964890
NM_000490.5(AVP):c.346T>G (p.Cys116Gly) rs74315383
NM_000490.5(AVP):c.55G>A (p.Ala19Thr) rs387906511
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000501.4(ELN):c.1269C>G (p.Val423=) rs61734583
NM_000501.4(ELN):c.134-7C>A rs782721415
NM_000501.4(ELN):c.1778C>A (p.Ala593Asp) rs1796553212
NM_000501.4(ELN):c.483C>A (p.Pro161=) rs150690195
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr) rs137854537
NM_000516.7(GNAS):c.531-13_531-10del rs576071932
NM_000528.4(MAN2B1):c.935C>A (p.Thr312Asn) rs1054487
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys) rs118192181
NM_000540.3(RYR1):c.14731G>A (p.Glu4911Lys) rs886044196
NM_000540.3(RYR1):c.7445-13T>A rs1600825341
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=) rs45483700
NM_000551.4(VHL):c.194C>G (p.Ser65Trp) rs5030826
NM_000551.4(VHL):c.340+1G>A rs730882032
NM_000551.4(VHL):c.353T>C (p.Leu118Pro) rs5030830
NM_000551.4(VHL):c.358A>G (p.Arg120Gly) rs869025642
NM_000551.4(VHL):c.463+3A>G rs1131690954
NM_000551.4(VHL):c.497T>C (p.Val166Ala) rs397516445
NM_000551.4(VHL):c.500G>A (p.Arg167Gln) rs5030821
NM_000551.4(VHL):c.509T>A (p.Val170Asp) rs864321642
NM_000552.5(VWF):c.2435del (p.Pro812fs) rs62643632
NM_000552.5(VWF):c.4105T>A (p.Phe1369Ile) rs61750069
NM_000569.8(FCGR3A):c.32T>A (p.Leu11Gln) rs371773367
NM_000574.5(CD55):c.155G>C (p.Arg52Pro) rs28371588
NM_000593.6(TAP1):c.955A>C (p.Ile319Leu) rs748668600
NM_000702.4(ATP1A2):c.1318G>A (p.Val440Met) rs768088341
NM_000702.4(ATP1A2):c.1652-7C>A rs200102433
NM_000719.7(CACNA1C):c.2573G>A (p.Arg858His) rs786205753
NM_000719.7(CACNA1C):c.3050A>G (p.His1017Arg) rs2153426949
NM_000719.7(CACNA1C):c.3712A>G (p.Met1238Val) rs2077233710
NM_000719.7(CACNA1C):c.6302G>A (p.Arg2101Lys) rs2153891904
NM_000722.4(CACNA2D1):c.3160-9del rs367960608
NM_000722.4(CACNA2D1):c.659-23CT[2] rs66474649
NM_000733.4(CD3E):c.211G>C (p.Asp71His) rs148647954
NM_000789.4(ACE):c.2673_2674dup (p.Tyr892fs) rs2030333357
NM_000789.4(ACE):c.870G>A (p.Trp290Ter) rs2147530850
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala) rs797044849
NM_000939.4(POMC):c.394C>G (p.Pro132Ala) rs8192606
NM_001003841.3(SLC6A19):c.1173+2T>G rs142979576
NM_001005242.3(PKP2):c.1211dup (p.Val406fs) rs397516989
NM_001005242.3(PKP2):c.1379-2114G>A rs2137838518
NM_001005242.3(PKP2):c.2357+4A>C rs1064793905
NM_001005242.3(PKP2):c.834G>T (p.Gln278His) rs1956949832
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp) rs121909091
NM_001006658.3(CR2):c.624C>A (p.Pro208=) rs61759494
NM_001007228.2(SPOP):c.412C>T (p.Arg138Cys) rs968974699
NM_001009944.3(PKD1):c.10602G>A (p.Ala3534=) rs572474052
NM_001009944.3(PKD1):c.3437_3439del (p.Phe1146del) rs1320867301
NM_001009944.3(PKD1):c.4475G>C (p.Arg1492Pro) rs757055929
NM_001009944.3(PKD1):c.4524C>T (p.Leu1508=) rs144200494
NM_001009944.3(PKD1):c.4654GTC[1] (p.Val1553del) rs1362745259
NM_001009944.3(PKD1):c.5622G>A (p.Trp1874Ter) rs2151792322
NM_001009944.3(PKD1):c.7120A>T (p.Lys2374Ter) rs2151776957
NM_001009944.3(PKD1):c.7546C>T (p.Arg2516Cys) rs797044902
NM_001009944.3(PKD1):c.7555C>T (p.Gln2519Ter) rs2151772321
NM_001009944.3(PKD1):c.8932TTC[1] (p.Phe2979del) rs1358948221
NM_001010874.5(TECRL):c.552-13dup rs577970051
NM_001012339.3(DNAJC21):c.1193A>G (p.Asp398Gly) rs934565737
NM_001018005.2(TPM1):c.591G>A (p.Leu197=) rs2140963657
NM_001018005.2(TPM1):c.607A>G (p.Asn203Asp) rs1555409523
NM_001018005.2(TPM1):c.832C>G (p.Leu278Val) rs730881161
NM_001018005.2(TPM1):c.851+5dup rs2036008903
NM_001022.4(RPS19):c.185G>A (p.Arg62Gln) rs1555841301
NM_001024630.4(RUNX2):c.674G>A (p.Arg225Gln) rs104893991
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His) rs886041246
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln) rs796053356
NM_001032221.6(STXBP1):c.579-2A>G rs112111568
NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter) rs796053359
NM_001034850.3(RETREG1):c.18T>G (p.Pro6=) rs773314283
NM_001035.3(RYR2):c.1069G>A (p.Gly357Ser) rs1401116572
NM_001035.3(RYR2):c.1293-14A>G rs752527636
NM_001035.3(RYR2):c.13956+9_13956+12del rs2149392567
NM_001035.3(RYR2):c.1395C>A (p.Pro465=) rs111990043
NM_001035.3(RYR2):c.14217del (p.Phe4739fs) rs749201569
NM_001035.3(RYR2):c.14876G>A (p.Arg4959Gln) rs794728811
NM_001035.3(RYR2):c.473G>A (p.Cys158Tyr) rs2149792694
NM_001035.3(RYR2):c.8643G>A (p.Glu2881=) rs749903392
NM_001039569.2(AP1S3):c.3+8C>A rs758275363
NM_001040113.2(MYH11):c.5819C>G (p.Pro1940Arg) rs111588143
NM_001040142.2(SCN2A):c.2016+6G>T rs748611550
NM_001040142.2(SCN2A):c.2642T>C (p.Leu881Pro) rs796053116
NM_001040142.2(SCN2A):c.781G>A (p.Val261Met) rs1057520413
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
NM_001040151.2(SCN3B):c.390G>A (p.Ala130=) rs148484744
NM_001042413.2(GLIS3):c.2656+8G>C rs1817905872
NM_001042413.2(GLIS3):c.844C>G (p.Pro282Ala) rs143051164
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu) rs104895271
NM_001065.4(TNFRSF1A):c.151C>T (p.His51Tyr) rs104895227
NM_001079802.2(FKTN):c.22G>T (p.Val8Leu) rs368981218
NM_001080421.3(UNC13A):c.2441C>T (p.Pro814Leu) rs2076985517
NM_001080517.3(SETD5):c.3214C>T (p.Arg1072Ter) rs2045524028
NM_001080517.3(SETD5):c.3520C>T (p.Arg1174Ter) rs1559496157
NM_001080522.2(CC2D2A):c.3289delG rs386833751
NM_001081.4(CUBN):c.7346T>C (p.Met2449Thr) rs41301097
NM_001083962.2(TCF4):c.1299G>A (p.Leu433=) rs552340151
NM_001083962.2(TCF4):c.1841C>T (p.Ala614Val) rs1568303352
NM_001085377.2(MCC):c.71_72insGGCAGCAGC (p.Ser24delinsArgAlaAlaAla) rs2150439379
NM_001099857.5(IKBKG):c.1056-16G>C rs1557236756
NM_001099857.5(IKBKG):c.1219A>G (p.Met407Val) rs137853322
NM_001099922.3(ALG13):c.2380GAA[1] (p.Glu795del) rs772766102
NM_001099922.3(ALG13):c.2754ACC[14] (p.Pro945del) rs750710267
NM_001099922.3(ALG13):c.2797CCT[14] (p.Pro945dup) rs56717389
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser) rs398122394
NM_001103.4(ACTN2):c.1444C>T (p.Arg482Trp) rs199604590
NM_001103.4(ACTN2):c.1512A>G (p.Leu504=) rs2102934725
NM_001103.4(ACTN2):c.1741G>A (p.Glu581Lys) rs1398504608
NM_001103.4(ACTN2):c.343G>C (p.Val115Leu) rs397516579
NM_001105206.3(LAMA4):c.1176_1177insT (p.Asp393Ter) rs2114895179
NM_001105206.3(LAMA4):c.2475C>G (p.Thr825=) rs189313630
NM_001105206.3(LAMA4):c.3296G>T (p.Arg1099Ile) rs1779337380
NM_001105206.3(LAMA4):c.85G>C (p.Asp29His) rs150662822
NM_001110556.2(FLNA):c.7713C>T (p.Tyr2571=) rs782308141
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr) rs61753973
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp) rs28934907
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys) rs28934904
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp) rs61748420
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter) rs61748421
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter) rs61749721
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter) rs61750240
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys) rs28935468
NM_001111125.3(IQSEC2):c.1402-15dup rs781861463
NM_001111125.3(IQSEC2):c.2278G>A (p.Gly760Ser) rs1556862958
NM_001114753.3(ENG):c.247C>T (p.Gln83Ter) rs863223532
NM_001114753.3(ENG):c.583G>A (p.Glu195Lys) rs1255912441
NM_001114753.3(ENG):c.67+1G>A rs1554813783
NM_001127222.2(CACNA1A):c.3265G>T (p.Gly1089Cys) rs201311000
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met) rs794727411
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His) rs121908216
NM_001127222.2(CACNA1A):c.6658_6659insACC (p.His2219dup) rs768950814
NM_001127222.2(CACNA1A):c.6937CAG[11] (p.Gln2324_Gln2325del) rs16054
NM_001127222.2(CACNA1A):c.6937CAG[15] (p.Gln2324_Gln2325dup) rs16054
NM_001127222.2(CACNA1A):c.7440C>G (p.His2480Gln) rs539546830
NM_001128148.3(TFRC):c.1038T>C (p.Phe346=) rs201264476
NM_001128164.2(ATXN1):c.636GCA[15] (p.Gln225dup) rs751421308
NM_001128840.3(CACNA1D):c.3279G>A (p.Ala1093=) rs36061665
NM_001130144.3(LTBP3):c.76CTG[11] (p.Leu35dup) rs71036212
NM_001130144.3(LTBP3):c.76CTG[13] (p.Leu33_Leu35dup) rs71036212
NM_001130144.3(LTBP3):c.76CTG[9] (p.Leu35del) rs71036212
NM_001130438.3(SPTAN1):c.6498C>T (p.Arg2166=) rs72758823
NM_001130987.2(DYSF):c.605C>A (p.Ala202Glu) rs34999029
NM_001134363.3(RBM20):c.146A>C (p.Gln49Pro) rs1554886578
NM_001134363.3(RBM20):c.150A>C (p.Pro50=) rs376936285
NM_001134363.3(RBM20):c.1527+18T>G rs2135051286
NM_001134363.3(RBM20):c.1528-1G>C rs534513476
NM_001134363.3(RBM20):c.1900C>T (p.Arg634Trp) rs796734066
NM_001134363.3(RBM20):c.2761A>T (p.Ile921Phe) rs397516608
NM_001134363.3(RBM20):c.3262C>G (p.Pro1088Ala) rs969716149
NM_001134363.3(RBM20):c.3317-20C>T rs202039414
NM_001134363.3(RBM20):c.665C>T (p.Ala222Val) rs2135042487
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met) rs78631453
NM_001134673.4(NFIA):c.1413G>A (p.Thr471=) rs146012018
NM_001142864.4(PIEZO1):c.4495+10_4495+14dup rs567560285
NM_001142864.4(PIEZO1):c.4969C>T (p.Pro1657Ser) rs763940836
NM_001142864.4(PIEZO1):c.5139C>T (p.Leu1713=) rs369279313
NM_001142864.4(PIEZO1):c.7367G>A (p.Arg2456His) rs587776988
NM_001148.6(ANK2):c.5778G>A (p.Pro1926=) rs754030532
NM_001159699.2(FHL1):c.737-3del rs368428875
NM_001164508.2(NEB):c.1266T>A (p.Tyr422Ter) rs2149360884
NM_001164508.2(NEB):c.14563T>C (p.Leu4855=) rs2288217
NM_001164508.2(NEB):c.20467-4del rs10687343
NM_001164508.2(NEB):c.20467-6_20467-4dup rs10687343
NM_001164508.2(NEB):c.5032-13dup rs148862132
NM_001164508.2(NEB):c.9346G>A (p.Glu3116Lys) rs193042896
NM_001165963.4(SCN1A):c.2177-11dup rs11394960
NM_001165963.4(SCN1A):c.2589+19del rs3032638
NM_001165963.4(SCN1A):c.2589+3A>T rs794726775
NM_001165963.4(SCN1A):c.2837G>A (p.Arg946His)
NM_001165963.4(SCN1A):c.4168G>A (p.Val1390Met) rs121917986
NM_001165963.4(SCN1A):c.4547C>A (p.Ser1516Ter) rs139300715
NM_001165963.4(SCN1A):c.4573C>T (p.Arg1525Ter) rs794726752
NM_001165963.4(SCN1A):c.677C>T (p.Thr226Met) rs121917984
NM_001170629.2(CHD8):c.3562C>T (p.Arg1188Ter) rs1555314911
NM_001182.5(ALDH7A1):c.1483G>A (p.Ala495Thr) rs1749930972
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser) rs796052839
NM_001184880.2(PCDH19):c.462C>G (p.Tyr154Ter) rs1569315876
NM_001195553.2(DCX):c.540G>T (p.Lys180Asn) rs1927758267
NM_001201550.3(CFHR4):c.1234C>A (p.Arg412=) rs75774768
NM_001232.4(CASQ2):c.757C>T (p.Arg253Cys) rs727504510
NM_001242896.3(DEPDC5):c.2512C>T (p.Arg838Ter) rs1569067939
NM_001243133.2(NLRP3):c.1043C>T (p.Thr348Met) rs151344629
NM_001243133.2(NLRP3):c.1316C>T (p.Ala439Val) rs121908146
NM_001243133.2(NLRP3):c.450A>G (p.Glu150=) rs1194375582
NM_001243133.2(NLRP3):c.778C>T (p.Arg260Ter) rs121908150
NM_001243133.2(NLRP3):c.907G>A (p.Asp303Asn) rs121908153
NM_001244008.2(KIF1A):c.2493G>T (p.Val831=) rs201861261
NM_001244008.2(KIF1A):c.4926C>T (p.Ala1642=) rs376581099
NM_001250.6(CD40):c.57T>A (p.His19Gln) rs1204102934
NM_001257180.2(SLC20A2):c.1158C>A (p.Tyr386Ter) rs2131006757
NM_001267550.2(TTN):c.100172-17dup rs397517782
NM_001267550.2(TTN):c.100825C>T (p.Arg33609Ter) rs1057518195
NM_001267550.2(TTN):c.103132C>T (p.Gln34378Ter) rs2154135182
NM_001267550.2(TTN):c.10433_10443del (p.Asn3478fs) rs2154336089
NM_001267550.2(TTN):c.105428del (p.Gly35143fs) rs886042825
NM_001267550.2(TTN):c.106793A>C (p.Gln35598Pro) rs953569145
NM_001267550.2(TTN):c.11605G>C (p.Val3869Leu) rs747929496
NM_001267550.2(TTN):c.13003GAA[1] (p.Glu4336del) rs1481572021
NM_001267550.2(TTN):c.23674A>G (p.Ile7892Val) rs2078060561
NM_001267550.2(TTN):c.23939-7del rs796323548
NM_001267550.2(TTN):c.2775+19G>T rs199707799
NM_001267550.2(TTN):c.2921del (p.Val974fs) rs2154350102
NM_001267550.2(TTN):c.32554+5_32554+6del rs771419718
NM_001267550.2(TTN):c.34175C>T (p.Pro11392Leu) rs868108980
NM_001267550.2(TTN):c.36949G>A (p.Ala12317Thr) rs1405466072
NM_001267550.2(TTN):c.37029A>G (p.Pro12343=) rs200163049
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg) rs72650066
NM_001267550.2(TTN):c.40603A>T (p.Lys13535Ter) rs2154238618
NM_001267550.2(TTN):c.40634-15_40634-11del rs375561641
NM_001267550.2(TTN):c.41329+1G>T rs796238032
NM_001267550.2(TTN):c.42235C>T (p.Arg14079Ter) rs745926057
NM_001267550.2(TTN):c.42682+14A>C rs2154225957
NM_001267550.2(TTN):c.44481AGA[1] (p.Glu14828del) rs727505315
NM_001267550.2(TTN):c.47352T>G (p.Tyr15784Ter) rs2057661952
NM_001267550.2(TTN):c.47805T>G (p.Ser15935=) rs918631230
NM_001267550.2(TTN):c.49263C>A (p.Tyr16421Ter) rs376188859
NM_001267550.2(TTN):c.50317G>A (p.Glu16773Lys) rs879025295
NM_001267550.2(TTN):c.50793C>A (p.Val16931=) rs2056308114
NM_001267550.2(TTN):c.50794A>T (p.Asn16932Tyr) rs2056307677
NM_001267550.2(TTN):c.50923C>A (p.Pro16975Thr) rs2154199573
NM_001267550.2(TTN):c.51379G>T (p.Val17127Phe) rs397517603
NM_001267550.2(TTN):c.5209G>T (p.Glu1737Ter) rs2154346241
NM_001267550.2(TTN):c.52903C>T (p.Arg17635Ter) rs2154197219
NM_001267550.2(TTN):c.53918del (p.Gly17973fs) rs1486129583
NM_001267550.2(TTN):c.54812-14del rs770542364
NM_001267550.2(TTN):c.55393G>T (p.Ala18465Ser) rs899078606
NM_001267550.2(TTN):c.57508G>T (p.Gly19170Ter) rs750947988
NM_001267550.2(TTN):c.5780T>G (p.Leu1927Arg) rs2154345987
NM_001267550.2(TTN):c.58433-16dup rs758370659
NM_001267550.2(TTN):c.58433-7del rs758370659
NM_001267550.2(TTN):c.59926+1G>A rs553526525
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.62246del (p.Gly20749fs) rs2154183801
NM_001267550.2(TTN):c.6292C>T (p.Arg2098Trp) rs763722868
NM_001267550.2(TTN):c.63505C>T (p.Leu21169=) rs543686186
NM_001267550.2(TTN):c.6359G>T (p.Arg2120Leu) rs141142920
NM_001267550.2(TTN):c.63625C>T (p.Arg21209Ter) rs794729279
NM_001267550.2(TTN):c.63794-1G>A rs2049262622
NM_001267550.2(TTN):c.64672+2T>C rs2154180290
NM_001267550.2(TTN):c.64708del (p.Ser21570fs) rs2048590205
NM_001267550.2(TTN):c.65042del (p.Asp21681fs) rs2154179867
NM_001267550.2(TTN):c.67667del (p.Pro22556fs) rs2154175408
NM_001267550.2(TTN):c.70560A>G (p.Pro23520=) rs759355651
NM_001267550.2(TTN):c.71000G>A (p.Trp23667Ter) rs865930770
NM_001267550.2(TTN):c.71602C>T (p.Arg23868Ter) rs397517689
NM_001267550.2(TTN):c.71848_71855dup (p.Gly23953fs) rs1254650118
NM_001267550.2(TTN):c.74597CAA[1] (p.Thr24867del) rs543318580
NM_001267550.2(TTN):c.77452G>T (p.Glu25818Ter) rs748619096
NM_001267550.2(TTN):c.7855+1G>T rs746566745
NM_001267550.2(TTN):c.79018G>T (p.Glu26340Ter) rs2154166071
NM_001267550.2(TTN):c.7907A>T (p.Glu2636Val) rs1207371966
NM_001267550.2(TTN):c.80530del (p.Ser26844fs) rs2154164929
NM_001267550.2(TTN):c.82255C>T (p.Gln27419Ter) rs2154161716
NM_001267550.2(TTN):c.82309_82312dup (p.Asn27438delinsArgTer) rs2154161683
NM_001267550.2(TTN):c.83062C>T (p.Arg27688Cys) rs757441189
NM_001267550.2(TTN):c.84524G>A (p.Trp28175Ter) rs2154159874
NM_001267550.2(TTN):c.85809del (p.Lys28603fs) rs796983799
NM_001267550.2(TTN):c.86640C>A (p.Tyr28880Ter) rs794729298
NM_001267550.2(TTN):c.86742_86745del (p.Tyr28915fs) rs1415420768
NM_001267550.2(TTN):c.8902+12_8902+13del rs774238749
NM_001267550.2(TTN):c.89314G>T (p.Glu29772Ter) rs200503016
NM_001267550.2(TTN):c.90298G>C (p.Glu30100Gln) rs762287310
NM_001267550.2(TTN):c.91152T>A (p.Tyr30384Ter) rs796635140
NM_001267550.2(TTN):c.91557T>C (p.Asp30519=) rs202185465
NM_001267550.2(TTN):c.92847C>G (p.Tyr30949Ter) rs2154147680
NM_001267550.2(TTN):c.94032_94040dup (p.Val31346_Glu31347insAspIleVal) rs1697753486
NM_001267550.2(TTN):c.95950A>G (p.Arg31984Gly) rs2154144165
NM_001267550.2(TTN):c.97604T>C (p.Ile32535Thr) rs2154141649
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro) rs55704830
NM_001267550.2(TTN):c.98713G>A (p.Glu32905Lys) rs763344306
NM_001267550.2(TTN):c.98990-1G>T rs796111471
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu) rs397517781
NM_001267550.2(TTN):c.99966G>T (p.Trp33322Cys) rs775769503
NM_001276345.2(TNNT2):c.42-6T>C rs1660720268
NM_001276345.2(TNNT2):c.443A>G (p.Gln148Arg) rs730880232
NM_001276345.2(TNNT2):c.508GAG[3] (p.Glu173del) rs397516470
NM_001276345.2(TNNT2):c.810+7C>A rs373069229
NM_001282225.2(ADA2):c.140G>T (p.Gly47Val) rs200930463
NM_001289808.2(CRYAB):c.167G>C (p.Arg56Pro) rs781986102
NM_001289808.2(CRYAB):c.201+17C>G rs782366958
NM_001290043.2(TAP2):c.983C>G (p.Ala328Gly) rs148663600
NM_001291415.2(KDM6A):c.2859-5del rs10605935
NM_001318777.2(TIRAP):c.286G>A (p.Asp96Asn) rs8177400
NM_001318777.2(TIRAP):c.646+36T>G rs373668992
NM_001323289.2(CDKL5):c.533G>A (p.Arg178Gln) rs267606715
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu) rs267608501
NM_001330260.2(SCN8A):c.4787C>G (p.Ser1596Cys) rs879255705
NM_001352027.3(PHF21A):c.1741C>T (p.Arg581Ter)
NM_001354930.2(RIPK1):c.1935G>A (p.Thr645=) rs114183703
NM_001356.5(DDX3X):c.731C>G (p.Ser244Ter) rs1275844963
NM_001358263.1(HK1):c.75+23del rs111682217
NM_001364905.1(LRBA):c.1015-20dup rs753223643
NM_001364905.1(LRBA):c.114G>T (p.Gly38=) rs72721739
NM_001365088.1(SLC12A6):c.317-5del rs747243268
NM_001365276.2(TNXB):c.3763C>G (p.Arg1255Gly) rs376472382
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001365536.1(SCN9A):c.2467C>G (p.Leu823Val) rs1029813878
NM_001365536.1(SCN9A):c.2874+12G>T rs201188263
NM_001366385.1(CARD14):c.2919C>G (p.Asp973Glu) rs144285237
NM_001369.3(DNAH5):c.2578-9_2578-7del rs71600031
NM_001370259.2(MEN1):c.1052A>G (p.Tyr351Cys) rs2136111524
NM_001370259.2(MEN1):c.1154C>T (p.Ala385Val) rs1298484645
NM_001370259.2(MEN1):c.1630C>T (p.Pro544Ser) rs1387157979
NM_001370259.2(MEN1):c.1A>G (p.Met1Val) rs386134250
NM_001371623.1(TCOF1):c.1993G>C (p.Ala665Pro) rs2071240
NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu) rs180177042
NM_001374736.1(DST):c.21676-15_21676-14del rs540330544
NM_001374828.1(ARID1B):c.6751C>T (p.Arg2251Ter) rs1554238072
NM_001375405.1(CEP120):c.1431-31dup rs75744800
NM_001378454.1(ALMS1):c.10214-12dup rs543855806
NM_001378454.1(ALMS1):c.10262del (p.Pro3421fs) rs2104063769
NM_001378454.1(ALMS1):c.3197_3200del (p.Asp1066fs) rs2103777977
NM_001378454.1(ALMS1):c.36GGA[16] (p.Glu26_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[9] (p.Glu25_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.68_69insAGAGGA (p.Glu27_Glu28dup) rs756301830
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del) rs386833764
NM_001379081.2(FREM1):c.2459C>T (p.Pro820Leu) rs868815512
NM_001379110.1(SLC9A6):c.1582-3C>T rs563279759
NM_001382567.1(STIM1):c.271-3C>T rs561797617
NM_001388492.1(HTT):c.54GCA[26] (p.Gln32_Gln38dup) rs71180116
NM_001388492.1(HTT):c.58_110= (p.Gln20_Gln37=) rs71180116
NM_001458.5(FLNC):c.1948C>T (p.Arg650Ter) rs770606675
NM_001458.5(FLNC):c.248_265dup (p.Pro88_Arg89insHisArgLysPheHisPro) rs2128932214
NM_001458.5(FLNC):c.3259A>C (p.Thr1087Pro) rs1272329612
NM_001458.5(FLNC):c.4418G>A (p.Gly1473Asp) rs1174959724
NM_001458.5(FLNC):c.4456+1G>A rs1318885805
NM_001458.5(FLNC):c.4925C>G (p.Thr1642Arg) rs756074974
NM_001458.5(FLNC):c.5399-17C>T rs930809365
NM_001458.5(FLNC):c.6716G>A (p.Arg2239Gln) rs1350832784
NM_001458.5(FLNC):c.6716G>T (p.Arg2239Leu) rs1350832784
NM_001458.5(FLNC):c.6864_6867dup (p.Val2290fs) rs2128939508
NM_001458.5(FLNC):c.7334A>G (p.His2445Arg) rs2128940144
NM_001458.5(FLNC):c.7372G>A (p.Glu2458Lys) rs2128940160
NM_001458.5(FLNC):c.7609G>A (p.Ala2537Thr) rs201486752
NM_001458.5(FLNC):c.969+14G>T rs765545958
NM_001543.5(NDST1):c.1749+8dup rs528143978
NM_001555.5(IGSF1):c.1966G>A (p.Gly656Arg) rs2124097454
NM_001605.3(AARS1):c.1737C>T (p.Ile579=) rs144323646
NM_001626.6(AKT2):c.1110G>T (p.Pro370=) rs41309435
NM_001643.2(APOA2):c.53-43TG[20] rs17244502
NM_001692.4(ATP6V1B1):c.175-1G>C rs1572919267
NM_001710.6(CFB):c.1524C>T (p.His508=) rs138207668
NM_001723.7(DST):c.5892C>T (p.Thr1964=) rs146263203
NM_001733.7(C1R):c.647C>G (p.Pro216Arg) rs189155429
NM_001734.5(C1S):c.306A>G (p.Pro102=) rs144939472
NM_001737.5(C9):c.162C>T (p.Cys54=) rs34000044
NM_001743.6(CALM2):c.285+16G>C rs3729963
NM_001814.6(CTSC):c.173-19dup rs11326739
NM_001848.3(COL6A1):c.1056+1G>A rs398123631
NM_001854.4(COL11A1):c.652-6dup rs36076089
NM_001875.5(CPS1):c.3928-9_3928-8del rs397703682
NM_001918.5(DBT):c.1282-4C>A rs1410431336
NM_001927.4(DES):c.114G>A (p.Ala38=) rs368901105
NM_001927.4(DES):c.1353C>T (p.Ile451=) rs121913002
NM_001927.4(DES):c.195C>T (p.Gly65=) rs1256584430
NM_001927.4(DES):c.407T>C (p.Leu136Pro) rs397516695
NM_001927.4(DES):c.725T>A (p.Val242Glu) rs794728984
NM_001927.4(DES):c.735+14C>T rs2125167702
NM_001927.4(DES):c.802C>G (p.Pro268Ala) rs1434613160
NM_001927.4(DES):c.816dup (p.Ala273fs) rs2125167896
NM_001940.4(ATN1):c.1464GCA[12] (p.Gln500_Gln502del) rs60216939
NM_001943.5(DSG2):c.2796T>C (p.Asn932=) rs2073307337
NM_001943.5(DSG2):c.523+23_523+24del rs77324780
NM_001943.5(DSG2):c.829-15G>C rs2144322515
NM_001961.4(EEF2):c.1011+17G>A rs190562397
NM_001999.4(FBN2):c.1826C>G (p.Thr609Ser) rs2126958666
NM_001999.4(FBN2):c.4472-12del rs758812755
NM_001999.4(FBN2):c.6948C>T (p.Ile2316=) rs17608368
NM_001999.4(FBN2):c.8082C>A (p.His2694Gln) rs142755118
NM_002087.4(GRN):c.99C>T (p.Asp33=) rs63750742
NM_002133.3(HMOX1):c.709C>G (p.Arg237Gly) rs145427664
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs) rs724159994
NM_002184.4(IL6ST):c.658+5dup rs530599601
NM_002227.4(JAK1):c.414C>T (p.Tyr138=) rs35237903
NM_002230.4(JUP):c.633C>A (p.Asn211Lys) rs372145644
NM_002230.4(JUP):c.809T>G (p.Leu270Arg) rs794729040
NM_002230.4(JUP):c.909+6C>T rs193922705
NM_002241.5(KCNJ10):c.300C>A (p.Asp100Glu) rs139069413
NM_002294.3(LAMP2):c.928G>A (p.Val310Ile) rs104894858
NM_002335.4(LRP5):c.34CTG[6] (p.Leu18_Leu20del) rs72555376
NM_002351.5(SH2D1A):c.48C>T (p.Gly16=) rs72610640
NM_002354.3(EPCAM):c.267G>C (p.Gln89His) rs146480420
NM_002448.3(MSX1):c.469+5G>C rs2108777804
NM_002448.3(MSX1):c.605G>A (p.Arg202His) rs121913129
NM_002470.4(MYH3):c.1960-17dup rs3216884
NM_002470.4(MYH3):c.1960-8del rs3216884
NM_002471.3(MYH6):c.3979-8C>A rs555976716
NM_002471.4(MYH6):c.1007C>G (p.Ala336Gly) rs138572790
NM_002471.4(MYH6):c.1100A>T (p.Gln367Leu) rs2138615086
NM_002471.4(MYH6):c.1887T>C (p.Asp629=) rs2138609012
NM_002471.4(MYH6):c.2093A>G (p.Asn698Ser) rs2138604595
NM_002471.4(MYH6):c.2292+1G>T rs771569935
NM_002471.4(MYH6):c.2702A>G (p.Asn901Ser) rs1891315952
NM_002471.4(MYH6):c.3979-10C>A rs28730768
NM_002471.4(MYH6):c.3979-11C>G rs200618133
NM_002471.4(MYH6):c.3979-11C>T rs200618133
NM_002471.4(MYH6):c.3979-14C>A rs372226248
NM_002471.4(MYH6):c.3979-7_3979-5del rs397516764
NM_002471.4(MYH6):c.4429C>T (p.Arg1477Cys) rs201989347
NM_002471.4(MYH6):c.4651-7T>A rs1891033978
NM_002471.4(MYH6):c.4955T>C (p.Leu1652Pro) rs2138584834
NM_002474.3(MYH11):c.1575+8del rs769321167
NM_002474.3(MYH11):c.232A>G (p.Lys78Glu) rs2151381334
NM_002474.3(MYH11):c.2998-18_2998-17del rs746744616
NM_002474.3(MYH11):c.5370C>G (p.Leu1790=) rs35295469
NM_002479.6(MYOG):c.106G>C (p.Glu36Gln) rs141951943
NM_002495.4(NDUFS4):c.291del (p.Lys96_Trp97insTer) rs121908985
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del) rs397516784
NM_002693.3(POLG):c.126GCA[14] (p.Gln53_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[8] (p.Gln53_Gln55del) rs41550117
NM_002693.3(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.3(POLG):c.856-17CTC[4] rs200056162
NM_002693.3(POLG):c.970C>T (p.Pro324Ser) rs2307437
NM_002739.5(PRKCG):c.353G>A (p.Gly118Asp) rs121918514
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro) rs121918470
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_002860.4(ALDH18A1):c.809-1G>C rs1202802893
NM_002968.3(SALL1):c.448AGC[7] (p.Ser157_Ser159del) rs113614842
NM_003000.3(SDHB):c.200+1G>A rs2101541309
NM_003000.3(SDHB):c.490C>T (p.Gln164Ter) rs1553177679
NM_003000.3(SDHB):c.653G>C (p.Trp218Ser) rs1553177290
NM_003002.4(SDHD):c.284T>C (p.Leu95Pro) rs80338846
NM_003036.4(SKI):c.27C>A (p.Gly9=) rs1476360335
NM_003042.4(SLC6A1):c.651G>A (p.Thr217=) rs6344
NM_003042.4(SLC6A1):c.889G>A (p.Gly297Arg) rs876657400
NM_003060.4(SLC22A5):c.825-1G>C rs1057516805
NM_003070.5(SMARCA2):c.669GCA[14] (p.Gln238_Pro239insGln) rs113070757
NM_003070.5(SMARCA2):c.669GCA[15] (p.Gln238_Pro239insGlnGln) rs113070757
NM_003193.5(TBCE):c.569A>C (p.Lys190Thr) rs150592371
NM_003200.5(TCF3):c.879CTC[1] (p.Ser295del) rs550914200
NM_003200.5(TCF3):c.888C>T (p.Ala296=) rs34203855
NM_003239.5(TGFB3):c.1138C>T (p.Pro380Ser) rs1555360033
NM_003242.6(TGFBR2):c.1114A>G (p.Lys372Glu) rs2125436283
NM_003242.6(TGFBR2):c.123C>T (p.Asn41=) rs2125404707
NM_003242.6(TGFBR2):c.383del (p.Lys128fs) rs79375991
NM_003289.4(TPM2):c.773-3dup rs35401252
NM_003334.4(UBA1):c.122T>C (p.Met41Thr) rs782416867
NM_003413.4(ZIC3):c.135CGC[10] (p.Ala55dup) rs748325646
NM_003413.4(ZIC3):c.667AACATG[3] (p.223NM[3]) rs779610526
NM_003476.5(CSRP3):c.286_287del (p.Pro96fs) rs960577385
NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup) rs398123707
NM_003482.4(KMT2D):c.11538C>T (p.Gly3846=) rs990458285
NM_003482.4(KMT2D):c.15256C>T (p.Arg5086Ter) rs727503979
NM_003482.4(KMT2D):c.3392C>T (p.Pro1131Leu) rs201623566
NM_003491.4(NAA10):c.346C>T (p.Arg116Trp)
NM_003611.3(OFD1):c.2052C>G (p.Ser684=) rs61742891
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln) rs149845612
NM_003661.4(APOL1):c.945T>G (p.Gly315=) rs1603482264
NM_003737.4(DCHS1):c.5035+10dup rs554638348
NM_003749.3(IRS2):c.2081CCG[9] (p.Ala701dup) rs34412495
NM_003824.4(FADD):c.276T>G (p.Pro92=) rs2135898214
NM_003923.3(FOXH1):c.771C>T (p.Gly257=) rs115750264
NM_003978.5(PSTPIP1):c.688G>A (p.Ala230Thr) rs121908130
NM_003978.5(PSTPIP1):c.748G>A (p.Glu250Lys) rs28939089
NM_003978.5(PSTPIP1):c.821C>T (p.Thr274Met) rs2076440871
NM_004006.3(DMD):c.2168+11C>G rs376214348
NM_004006.3(DMD):c.3940C>T (p.Arg1314Ter) rs5030730
NM_004056.6(CA8):c.*36-24dup rs57677078
NM_004168.4(SDHA):c.1909-12_1909-11del rs372662724
NM_004168.4(SDHA):c.1945_1946del (p.Leu649fs) rs112307877
NM_004168.4(SDHA):c.622-13del rs3835068
NM_004177.5(STX3):c.739C>T (p.Arg247Ter) rs575668968
NM_004187.5(KDM5C):c.1794C>T (p.Pro598=) rs35353912
NM_004187.5(KDM5C):c.2517-9_2517-7dup rs398124111
NM_004260.4(RECQL4):c.2547_2548del (p.Phe850fs) rs778141083
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647
NM_004281.4(BAG3):c.212G>A (p.Arg71Gln) rs35434411
NM_004281.4(BAG3):c.612G>A (p.Gly204=) rs2134065088
NM_004360.5(CDH1):c.1320+1G>T rs886039685
NM_004369.4(COL6A3):c.2488G>T (p.Ala830Ser) rs77181645
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.3370-16dup rs75459669
NM_004380.3(CREBBP):c.6624A>C (p.Gln2208His) rs142545779
NM_004387.4(NKX2-5):c.335-311_335-303del rs200467566
NM_004393.6(DAG1):c.-116-4dup rs200455639
NM_004415.3(DSP):c.8487_8498del12 rs727504704
NM_004415.4(DSP):c.1266+6G>T rs73375345
NM_004415.4(DSP):c.2436+16A>G rs199555263
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter) rs730880082
NM_004415.4(DSP):c.3054_3055del (p.Ser1018fs) rs2113690064
NM_004415.4(DSP):c.3146C>G (p.Ser1049Trp) rs751361395
NM_004415.4(DSP):c.3337C>T (p.Arg1113Ter) rs746877365
NM_004415.4(DSP):c.4245T>G (p.Thr1415=) rs397516936
NM_004415.4(DSP):c.4608_4612del (p.Arg1537fs) rs796620239
NM_004415.4(DSP):c.5798C>T (p.Ser1933Phe) rs558069434
NM_004415.4(DSP):c.6073C>T (p.Pro2025Ser) rs1759514545
NM_004415.4(DSP):c.6075T>A (p.Pro2025=) rs2113699490
NM_004415.4(DSP):c.8230A>G (p.Arg2744Gly) rs1198357388
NM_004415.4(DSP):c.8531G>T (p.Gly2844Val) rs374137476
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004525.3(LRP2):c.428-9_428-8del rs370823033
NM_004577.4(PSPH):c.268G>A (p.Gly90Ser) rs75395437
NM_004612.4(TGFBR1):c.927G>C (p.Thr309=) rs201323409
NM_004646.4(NPHS1):c.3250dup (p.Val1084fs) rs386833935
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser) rs143092783
NM_004655.4(AXIN2):c.1235A>G (p.Asn412Ser) rs115931022
NM_004655.4(AXIN2):c.1966C>T (p.Arg656Ter) rs121908568
NM_004738.5(VAPB):c.476CTT[1] (p.Ser160del) rs566283411
NM_004787.4(SLIT2):c.4253C>T (p.Ala1418Val) rs143417693
NM_004958.4(MTOR):c.5502_5519dup (p.Ala1835_Thr1840dup) rs770515802
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys) rs397518423
NM_005045.4(RELN):c.5211-7del rs34125550
NM_005045.4(RELN):c.5211-8_5211-7del rs34125550
NM_005060.4(RORC):c.1391C>G (p.Ala464Gly) rs113195254
NM_005097.4(LGI1):c.432-6_432-5dup rs61662431
NM_005120.3(MED12):c.6348_6359dup (p.His2116_Gln2119dup) rs398124200
NM_005159.5(ACTC1):c.809-58TG[16] rs59431308
NM_005159.5(ACTC1):c.809-58TG[22] rs59431308
NM_005159.5(ACTC1):c.811A>G (p.Met271Val) rs2140429730
NM_005159.5(ACTC1):c.967G>T (p.Ala323Ser) rs771011464
NM_005219.5(DIAPH1):c.1821TCC[13] (p.Pro619_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.3149-25_3149-24dup rs79558427
NM_005263.5(GFI1):c.925-40CT[15] rs35896485
NM_005263.5(GFI1):c.925-40CT[19] rs35896485
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_005475.3(SH2B3):c.1236+4TGGGG[4] rs111340708
NM_005475.3(SH2B3):c.1236+4TGGGG[6] rs111340708
NM_005477.3(HCN4):c.1441T>C (p.Tyr481His) rs1057519275
NM_005477.3(HCN4):c.785+18T>A rs1412056222
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu) rs147114700
NM_005559.4(LAMA1):c.842G>A (p.Trp281Ter) rs2144193240
NM_005559.4(LAMA1):c.8761C>T (p.Arg2921Ter) rs1480105908
NM_005585.5(SMAD6):c.1318G>A (p.Asp440Asn) rs924329960
NM_005591.4(MRE11):c.228C>T (p.Leu76=) rs748605250
NM_005591.4(MRE11):c.315-14dup rs35062043
NM_005609.4(PYGM):c.1A>G (p.Met1Val) rs267606993
NM_005629.4(SLC6A8):c.87G>A (p.Gly29=) rs782373793
NM_005857.5(ZMPSTE24):c.1085dup (p.Leu362fs) rs137854889
NM_005902.4(SMAD3):c.304G>A (p.Glu102Lys) rs1962537574
NM_005912.3(MC4R):c.240C>A (p.Tyr80Ter) rs895704914
NM_005912.3(MC4R):c.779C>A (p.Pro260Gln) rs1435358988
NM_005989.4(AKR1D1):c.379-4del rs35402657
NM_006208.3(ENPP1):c.313+9GT[20] rs59956343
NM_006208.3(ENPP1):c.313+9GT[22] rs59956343
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
NM_006267.5(RANBP2):c.3363G>T (p.Lys1121Asn) rs112835359
NM_006267.5(RANBP2):c.6612C>A (p.Ala2204=) rs202005268
NM_006267.5(RANBP2):c.7790T>C (p.Phe2597Ser) rs2949962
NM_006284.4(TAF10):c.*784T>G rs769283883
NM_006393.3(NEBL):c.1775C>A (p.Ala592Glu) rs146275785
NM_006393.3(NEBL):c.1775C>T (p.Ala592Val) rs146275785
NM_006440.5(TXNRD2):c.1150G>A (p.Gly384Ser) rs192869629
NM_006440.5(TXNRD2):c.1407C>A (p.Asn469Lys) rs200063300
NM_006440.5(TXNRD2):c.64G>A (p.Val22Met) rs370819229
NM_006516.4(SLC2A1):c.274C>T (p.Arg92Trp) rs202060209
NM_006516.4(SLC2A1):c.679+4C>T rs139492241
NM_006516.4(SLC2A1):c.679+7G>C rs13306757
NM_006642.5(SDCCAG8):c.1094G>A (p.Arg365Lys) rs115098969
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464
NM_006772.3(SYNGAP1):c.1735C>T (p.Arg579Ter) rs121918316
NM_006790.3(MYOT):c.1401T>C (p.Asn467=) rs145427063
NM_006796.3(AFG3L2):c.293-14_293-13del rs556473698
NM_006883.2(SHOX):c.-512C>A rs113313554
NM_006904.7(PRKDC):c.8662G>C (p.Val2888Leu) rs185741285
NM_006904.7(PRKDC):c.9337-4del rs11311765
NM_006929.5(SKIC2):c.116C>T (p.Pro39Leu) rs2151802046
NM_006941.4(SOX10):c.723T>A (p.Pro241=) rs1601879433
NM_006950.3(SYN1):c.189G>T (p.Pro63=) rs371739376
NM_006950.3(SYN1):c.472A>C (p.Asn158His) rs759485248
NM_007078.3(LDB3):c.1098T>G (p.Ser366=) rs2132465936
NM_007078.3(LDB3):c.465C>T (p.Leu155=) rs45516997
NM_007078.3(LDB3):c.690-4837C>T rs528725791
NM_007118.4(TRIO):c.3332-8T>C rs369818812
NM_007118.4(TRIO):c.3948+26_3948+27dup rs57751910
NM_007126.5(VCP):c.464G>A (p.Arg155His) rs121909329
NM_007126.5(VCP):c.475C>T (p.Arg159Cys) rs387906789
NM_007187.5(WBP4):c.262+23del rs58699334
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.597del (p.Phe199fs) rs1250779080
NM_007194.4(CHEK2):c.78_79del (p.Gln27fs) rs2146153237
NM_007214.5(SEC63):c.1697AAG[2] (p.Glu568del) rs752018806
NM_007254.4(PNKP):c.1360C>A (p.Leu454Met) rs200611702
NM_007289.4(MME):c.467del (p.Pro156fs) rs749320057
NM_007294.4(BRCA1):c.1287dup (p.Asp430fs) rs80357576
NM_007294.4(BRCA1):c.1292dup (p.Leu431fs) rs80357528
NM_007294.4(BRCA1):c.1525A>G (p.Thr509Ala) rs1238203770
NM_007294.4(BRCA1):c.1529C>G (p.Ser510Ter) rs80357427
NM_007294.4(BRCA1):c.1961del (p.Lys654fs) rs80357522
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly) rs80357382
NM_007294.4(BRCA1):c.2139A>C (p.Ser713=) rs1131692089
NM_007294.4(BRCA1):c.2197_2201del (p.Glu733fs) rs80357507
NM_007294.4(BRCA1):c.3467A>C (p.Asp1156Ala) rs2154312065
NM_007294.4(BRCA1):c.3888TTC[1] (p.Ser1298del) rs80358339
NM_007294.4(BRCA1):c.3918G>T (p.Leu1306Phe) rs786202068
NM_007294.4(BRCA1):c.439T>C (p.Leu147=) rs794727800
NM_007294.4(BRCA1):c.441+36_441+49del rs373413425
NM_007294.4(BRCA1):c.441+51del rs921962743
NM_007294.4(BRCA1):c.441+64del rs72434991
NM_007294.4(BRCA1):c.4485-134C>T rs1213345369
NM_007294.4(BRCA1):c.4699G>T (p.Gly1567Ter) rs568753972
NM_007294.4(BRCA1):c.4987-53G>A rs2153723422
NM_007294.4(BRCA1):c.53T>C (p.Met18Thr) rs80356929
NM_007294.4(BRCA1):c.548-41A>G rs1377029950
NM_007294.4(BRCA1):c.66dup (p.Glu23fs) rs80357783
NM_007294.4(BRCA1):c.81-14C>T rs80358006
NM_007315.4(STAT1):c.800C>T (p.Ala267Val) rs387906759
NM_007315.4(STAT1):c.821G>A (p.Arg274Gln) rs387906760
NM_007327.4(GRIN1):c.1976G>A (p.Arg659Gln) rs2131299400
NM_007375.4(TARDBP):c.1055A>G (p.Asn352Ser) rs80356734
NM_012079.6(DGAT1):c.856-3C>T rs201711241
NM_012134.3(LMOD1):c.1769T>C (p.Leu590Pro) rs1681246206
NM_012186.3(FOXE3):c.562TACGCGCCC[3] (p.188YAP[3]) rs768610152
NM_012216.4(MID2):c.1662G>A (p.Leu554=) rs749983502
NM_012330.4(KAT6B):c.4079AAGAGGAAG[4] (p.Glu1366_Glu1368dup) rs375513122
NM_013266.4(CTNNA3):c.2401-23dup rs1338241471
NM_014000.3(VCL):c.1294C>T (p.Leu432=) rs144146254
NM_014000.3(VCL):c.2276G>A (p.Arg759Gln) rs1425397914
NM_014000.3(VCL):c.379G>A (p.Asp127Asn) rs1554816666
NM_014000.3(VCL):c.622+4C>T rs201020802
NM_014055.4(IFT81):c.714A>C (p.Gln238His) rs146627387
NM_014251.3(SLC25A13):c.1452+19del rs749506606
NM_014270.5(SLC7A9):c.120G>A (p.Val40=) rs140179068
NM_014391.3(ANKRD1):c.222dup (p.Leu75fs) rs776659587
NM_014425.5(INVS):c.2069-18_2069-16del rs577372332
NM_014476.6(PDLIM3):c.246-9_246-5del rs765292127
NM_014625.4(NPHS2):c.862G>A (p.Ala288Thr) rs1490010141
NM_014846.4(WASHC5):c.2149C>T (p.Arg717Cys) rs1354434507
NM_014846.4(WASHC5):c.694G>C (p.Asp232His) rs1817136668
NM_014874.4(MFN2):c.475-10C>G rs2100825982
NM_014915.3(ANKRD26):c.1269+7_1269+9del rs200015812
NM_014946.4(SPAST):c.1378C>T (p.Arg460Cys) rs878854990
NM_014956.5(CEP164):c.380C>A (p.Pro127His) rs143659874
NM_014956.5(CEP164):c.380C>T (p.Pro127Leu) rs143659874
NM_014967.5(FAN1):c.2418C>T (p.Asp806=) rs143461130
NM_015202.5(KATNIP):c.1113+10G>A rs376063239
NM_015272.5(RPGRIP1L):c.3295-8del rs113083177
NM_015311.3(OBSL1):c.5210C>A (p.Thr1737Lys) rs199594182
NM_015450.3(POT1):c.-153-9del rs57468586
NM_015909.4(NBAS):c.540C>T (p.Ser180=) rs202027230
NM_016188.5(ACTL6B):c.144G>C (p.Glu48Asp) rs141807780
NM_016203.4(PRKAG2):c.471C>T (p.Ser157=) rs141804012
NM_016203.4(PRKAG2):c.504A>C (p.Gln168His) rs2151477345
NM_016599.5(MYOZ2):c.688C>T (p.Arg230Trp) rs372215131
NM_017534.6(MYH2):c.2615C>G (p.Ser872Ter) rs2142303290
NM_017617.5(NOTCH1):c.4985G>A (p.Arg1662Gln) rs774808496
NM_017668.3(NDE1):c.*388del rs543763112
NM_017780.4(CHD7):c.2096+21dup rs111577577
NM_017780.4(CHD7):c.7173C>T (p.Ala2391=) rs545381857
NM_017838.4(NHP2):c.160+10A>T rs376220034
NM_017849.4(TMEM127):c.410-2A>G rs121908826
NM_018051.5(DYNC2I1):c.471G>A (p.Ala157=) rs375082266
NM_018100.4(EFHC1):c.723+106C>T rs190021570
NM_018122.5(DARS2):c.228-12C>G rs9425753
NM_018486.3(HDAC8):c.738-1G>A rs1602975601
NM_018979.4(WNK1):c.4605_4607del (p.Ser1536del) rs72650732
NM_018979.4(WNK1):c.5542_5550del (p.Thr1848_Ser1850del) rs544395150
NM_019026.6(TMCO1):c.324-7C>T rs200248108
NM_019066.5(MAGEL2):c.3140T>C (p.Val1047Ala) rs576711188
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTAGAGG rs71269007
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=) rs10870182
NM_020223.4(FAM20C):c.953_956+30dup rs771282640
NM_020297.4(ABCC9):c.1137T>C (p.Thr379=) rs1389562014
NM_020297.4(ABCC9):c.2020-6T>C rs1234670723
NM_020297.4(ABCC9):c.2474C>T (p.Ala825Val) rs964127282
NM_020297.4(ABCC9):c.3346C>T (p.Arg1116Cys) rs387907228
NM_020297.4(ABCC9):c.3460C>T (p.Arg1154Trp) rs387907208
NM_020297.4(ABCC9):c.3461G>A (p.Arg1154Gln) rs387907209
NM_020297.4(ABCC9):c.4450-5del rs4148680
NM_020297.4(ABCC9):c.817-18del rs199947733
NM_020458.4(TTC7A):c.1026C>T (p.Ile342=) rs151317740
NM_020751.3(COG6):c.1646G>T (p.Gly549Val) rs387906959
NM_020774.4(MIB1):c.1322A>C (p.Asn441Thr) rs730880135
NM_020774.4(MIB1):c.180C>T (p.Tyr60=) rs141633387
NM_020778.5(ALPK3):c.1688T>C (p.Met563Thr) rs150028343
NM_020822.3(KCNT1):c.1420C>T (p.Arg474Cys) rs866242631
NM_020822.3(KCNT1):c.862G>A (p.Gly288Ser) rs587777264
NM_020944.3(GBA2):c.1196G>C (p.Arg399Pro) rs142607078
NM_020964.3(EPG5):c.6622-23dup rs11333207
NM_020975.6(RET):c.1832G>A (p.Cys611Tyr) rs377767397
NM_020975.6(RET):c.1853G>C (p.Cys618Ser) rs79781594
NM_020975.6(RET):c.1859G>T (p.Cys620Phe) rs77503355
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_021008.4(DEAF1):c.670C>T (p.Arg224Trp) rs587777408
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del) rs747975797
NM_021098.3(CACNA1H):c.988G>A (p.Val330Met) rs752653043
NM_021245.4(MYOZ1):c.652T>G (p.Tyr218Asp) rs145071008
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847
NM_022336.4(EDAR):c.964-1G>C rs2105390253
NM_024009.3(GJB3):c.479G>A (p.Arg160His) rs200055020
NM_024312.5(GNPTAB):c.-62GGC[7] rs76300806
NM_024334.3(TMEM43):c.1061G>C (p.Cys354Ser) rs187262922
NM_024334.3(TMEM43):c.163-3del rs371706980
NM_024408.4(NOTCH2):c.312A>G (p.Ser104=) rs2793999
NM_024422.6(DSC2):c.2125+1del rs794728072
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp) rs121907900
NM_024426.6(WT1):c.785-14G>C rs375514482
NM_024496.4(IRF2BPL):c.462CGC[8] (p.Ala164del) rs371633333
NM_024496.4(IRF2BPL):c.491_492insCGC (p.Ala164dup) rs780441372
NM_024577.4(SH3TC2):c.3795G>C (p.Leu1265=) rs144873879
NM_024589.3(ROGDI):c.117+10C>G rs113858060
NM_024592.5(SRD5A3):c.951_955del (p.Phe318fs) rs565935886
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.363C>A (p.Tyr121Ter) rs1856010874
NM_024675.4(PALB2):c.2607C>T (p.Ser869=) rs45542234
NM_024675.4(PALB2):c.3523C>T (p.Gln1175Ter) rs1555457841
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter) rs118203998
NM_024757.5(EHMT1):c.2929C>T (p.Gln977Ter) rs2137711618
NM_025074.7(FRAS1):c.11544del (p.Arg3849fs) rs776789412
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs) rs62640570
NM_025114.4(CEP290):c.4960C>T (p.Gln1654Ter) rs1226324483
NM_025132.4(WDR19):c.553C>G (p.Gln185Glu) rs769602871
NM_025137.4(SPG11):c.833A>G (p.Asn278Ser) rs75309308
NM_025216.3(WNT10A):c.831G>C (p.Trp277Cys) rs1234227647
NM_025243.4(SLC19A3):c.980-10T>C rs750918156
NM_030665.4(RAI1):c.834GCA[9] (p.Gln288_Gln291del) rs371983878
NM_031443.4(CCM2):c.236_237del (p.Tyr79fs) rs2128747325
NM_032043.3(BRIP1):c.1236del (p.Val413fs) rs863224525
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs) rs587778134
NM_032043.3(BRIP1):c.380-28G>A rs4988343
NM_032119.4(ADGRV1):c.14691C>T (p.Leu4897=) rs1282851932
NM_032119.4(ADGRV1):c.17017A>G (p.Lys5673Glu) rs41303350
NM_032119.4(ADGRV1):c.18433-5del rs35858094
NM_032119.4(ADGRV1):c.7176C>T (p.Ser2392=) rs111033452
NM_032383.5(HPS3):c.884+25del rs10693502
NM_032427.4(MAML2):c.1782GCA[12] (p.Gln621del) rs60727839
NM_032578.4(MYPN):c.2302C>T (p.Pro768Ser) rs772356751
NM_032578.4(MYPN):c.2565-8T>A rs2043210119
NM_032578.4(MYPN):c.3417C>G (p.Arg1139=) rs144488384
NM_032578.4(MYPN):c.3659+8A>G rs2134311963
NM_032588.4(TRIM63):c.1052-21_1052-20del rs768795582
NM_033028.5(BBS4):c.777_778del (p.Tyr259_Arg260delinsTer) rs1459736027
NM_033380.3(COL4A5):c.1117C>T (p.Arg373Ter) rs104886094
NM_033380.3(COL4A5):c.1525G>T (p.Gly509Cys) rs754223700
NM_033380.3(COL4A5):c.406A>G (p.Ser136Gly) rs768580195
NM_033629.6(TREX1):c.720G>A (p.Arg240=) rs72556555
NM_053025.4(MYLK):c.3637G>C (p.Val1213Leu) rs368390254
NM_053025.4(MYLK):c.4289-10dup rs41431347
NM_058179.4(PSAT1):c.571-4dup rs536197677
NM_080425.4(GNAS):c.1394_1395insCGACTCCGGGGCGGCCCGTGACGCCCCAGCCGATCC (p.Asp466_Ala467insSerGlyAlaAlaArgAspAlaProAlaAspProAsp) rs1196950915
NM_130797.4(DPP6):c.1095C>T (p.Thr365=) rs2150383792
NM_130797.4(DPP6):c.244-141059C>T rs606231226
NM_138554.5(TLR4):c.2288G>A (p.Arg763His) rs5030723
NM_138638.5(CFL2):c.312-7del rs35515423
NM_138694.4(PKHD1):c.8302+2T>C rs2151510946
NM_138713.4(NFAT5):c.1005+14_1005+17del rs751067427
NM_138927.4(SON):c.3688_3741dup (p.Tyr1230_Thr1247dup) rs1569055881
NM_144573.4(NEXN):c.1112C>T (p.Pro371Leu) rs200067011
NM_144573.4(NEXN):c.1671GGA[2] (p.Glu561_Glu562del) rs397517848
NM_144573.4(NEXN):c.1733G>T (p.Arg578Ile) rs374878979
NM_144573.4(NEXN):c.1909_1912del (p.Tyr637fs) rs775629965
NM_144596.4(TTC8):c.1464G>C (p.Ala488=) rs142073418
NM_145046.5(CALR3):c.1068_1069del (p.Glu357fs) rs2122122870
NM_145207.3(AFG2A):c.1677C>A (p.Tyr559Ter) rs139834687
NM_145207.3(AFG2A):c.1883A>G (p.Asp628Gly) rs768528444
NM_145207.3(AFG2A):c.1A>C (p.Met1Leu) rs552219028
NM_145207.3(AFG2A):c.983CAA[2] (p.Thr330del) rs796052243
NM_145239.3(PRRT2):c.564G>A (p.Gln188=) rs545201760
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_145239.3(PRRT2):c.649C>T (p.Arg217Ter) rs77838305
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
NM_152384.3(BBS5):c.387-15_387-12del rs756793669
NM_152384.3(BBS5):c.425T>G (p.Leu142Ter) rs1574339529
NM_152564.5(VPS13B):c.1293T>G (p.Thr431=) rs77759532
NM_152564.5(VPS13B):c.2014-2A>G rs1588095580
NM_153026.3(PRICKLE1):c.954C>G (p.Ser318=) rs139421676
NM_170707.4(LMNA):c.1130G>T (p.Arg377Leu) rs61672878
NM_170707.4(LMNA):c.1146C>T (p.Gly382=) rs57508089
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.1608+5G>C rs267607539
NM_170707.4(LMNA):c.308A>G (p.Gln103Arg) rs2102818914
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys) rs28933093
NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter) rs58048078
NM_170707.4(LMNA):c.876G>A (p.Leu292=) rs2102883669
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp) rs759584387
NM_172107.4(KCNQ2):c.365C>T (p.Ser122Leu) rs118192194
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
NM_172107.4(KCNQ2):c.587C>T (p.Ala196Val) rs118192199
NM_172107.4(KCNQ2):c.602G>A (p.Arg201His) rs1057516085
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser) rs1057516099
NM_172107.4(KCNQ2):c.917C>T (p.Ala306Val) rs864321707
NM_172107.4(KCNQ2):c.997C>T (p.Arg333Trp) rs118192215
NM_172362.3(KCNH1):c.80-19dup rs56223346
NM_172362.3(KCNH1):c.80-6del rs56223346
NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs) rs879255251
NM_174934.4(SCN4B):c.208T>C (p.Tyr70His) rs1029021066
NM_175875.5(SIX5):c.1773G>T (p.Thr591=) rs138916954
NM_176787.5(PIGN):c.1117-1= rs9959632
NM_181523.3(PIK3R1):c.634+8T>C rs368138177
NM_182895.5(SCARF2):c.1425-35_1425-25del rs761153453
NM_182919.4(TICAM1):c.733G>A (p.Gly245Ser) rs151272128
NM_182961.4(SYNE1):c.17203-6del rs55633181
NM_182961.4(SYNE1):c.17203-7_17203-6del rs55633181
NM_182961.4(SYNE1):c.3670-14del rs111322292
NM_182961.4(SYNE1):c.5070C>G (p.Val1690=) rs146789107
NM_194454.3(KRIT1):c.1166del (p.Gly389fs) rs2131511467
NM_194454.3(KRIT1):c.1287del (p.Ser430fs) rs2131454847
NM_194454.3(KRIT1):c.1412-1G>C rs1554513070
NM_194454.3(KRIT1):c.2043del (p.Lys682fs) rs1563212150
NM_198060.4(NRAP):c.994-13dup rs35741231
NM_198253.3(TERT):c.2970+7A>G rs530914674
NM_198253.3(TERT):c.395G>A (p.Arg132Gln) rs2126690021
NM_198271.5(LMOD3):c.426A>C (p.Glu142Asp) rs111848977
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_201384.3(PLEC):c.378T>G (p.Ala126=) rs6993938
NM_201596.3(CACNB2):c.121-17_121-3dup rs71402148
NM_201596.3(CACNB2):c.121-25_121-3dup rs71402148
NM_201596.3(CACNB2):c.121-3_121-2insTTTTGT rs769211879
NM_201596.3(CACNB2):c.121-9_121-3del rs71402148
NM_203447.4(DOCK8):c.3234+15del rs375864618
NM_213599.3(ANO5):c.191dup (p.Asn64fs) rs137854521
NM_213599.3(ANO5):c.2236-10del rs72105710

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