ClinVar Miner

Variants with conflicting interpretations "likely benign" from Genome Diagnostics Laboratory, University Medical Center Utrecht and "benign" from any submitter

Minimum review status of the submission from Genome Diagnostics Laboratory, University Medical Center Utrecht: Collection method of the submission from Genome Diagnostics Laboratory, University Medical Center Utrecht:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 2865
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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_005535.3(IL12RB1):c.641A>G (p.Gln214Arg) rs11575934 0.25155
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_000265.7(NCF1):c.345C>T (p.Leu115=) rs17356100 0.12720
NM_005535.3(IL12RB1):c.467G>A (p.Arg156His) rs11575926 0.12190
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_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120 0.07445
NM_002471.4(MYH6):c.166G>A (p.Gly56Arg) rs28711516 0.06950
NM_019109.5(ALG1):c.800G>A (p.Ser267Asn) rs17849848 0.06910
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_016373.4(WWOX):c.517-108230A>G rs77067228 0.05744
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_000070.3(CAPN3):c.2380+12del rs28364538 0.04623
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_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359 0.04130
NM_001077365.2(POMT1):c.1233C>A (p.Asp411Glu) rs11243406 0.04069
NM_000043.6(FAS):c.46G>A (p.Ala16Thr) rs3218619 0.03995
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_001199397.3(NEK1):c.1388C>T (p.Ala463Val) rs34540355 0.03694
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_000051.4(ATM):c.3403-15T>A rs79701258 0.02975
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149 0.02935
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_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818 0.02573
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_000051.4(ATM):c.8786+8A>C rs4986839 0.02488
NM_182895.5(SCARF2):c.1967C>T (p.Pro656Leu) rs9680797 0.02487
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.5497-8T>C rs3092829 0.02183
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_000303.3(PMM2):c.590A>C (p.Glu197Ala) rs34258285 0.02088
NM_024306.5(FA2H):c.289C>G (p.Pro97Ala) rs35874850 0.02064
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_001148.6(ANK2):c.9900C>A (p.Ser3300Arg) rs34270799 0.01986
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_182914.3(SYNE2):c.12122G>A (p.Arg4041His) rs17101661 0.01834
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_000642.3(AGL):c.1155G>T (p.Lys385Asn) rs28730701 0.01764
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_005676.5(RBM10):c.1891G>C (p.Ala631Pro) rs79693964 0.01703
NM_004366.6(CLCN2):c.2154G>C (p.Glu718Asp) rs2228292 0.01679
NM_000271.5(NPC1):c.1503C>T (p.Asp501=) rs116046557 0.01665
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile) rs1805324 0.01651
NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val) rs11568438 0.01617
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_003640.5(ELP1):c.2587+14C>T rs141670242 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_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_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_001232.4(CASQ2):c.226G>A (p.Val76Met) rs10801999 0.01289
NM_000053.4(ATP7B):c.1707+9T>C rs114449708 0.01274
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg) rs76116949 0.01253
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_004984.4(KIF5A):c.2957C>T (p.Pro986Leu) rs113247976 0.01241
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_002506.3(NGF):c.239G>A (p.Arg80Gln) rs11466111 0.01173
NM_003722.5(TP63):c.1652+14A>C rs150685395 0.01158
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01150
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_000264.5(PTCH1):c.2199A>G (p.Ser733=) rs2227970 0.01091
NM_201596.3(CACNB2):c.1518C>T (p.Arg506=) rs34813638 0.01090
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_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_000059.4(BRCA2):c.8487+19A>G rs11571743 0.01055
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_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
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_001605.3(AARS1):c.2900A>T (p.Lys967Met) rs35744709 0.00971
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_015192.4(PLCB1):c.2413+9C>T rs138442805 0.00934
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_138694.4(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726 0.00885
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_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
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_003482.4(KMT2D):c.10192A>G (p.Met3398Val) rs75937132 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_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072 0.00832
NM_024422.6(DSC2):c.351A>G (p.Thr117=) rs117812913 0.00832
NM_020549.5(CHAT):c.1682G>A (p.Arg561Gln) rs80097077 0.00825
NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr) rs36210417 0.00822
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_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_005689.4(ABCB6):c.1562C>G (p.Thr521Ser) rs149363094 0.00792
NM_000709.4(BCKDHA):c.452C>T (p.Thr151Met) rs34442879 0.00790
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_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
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_000059.4(BRCA2):c.316+108A>G rs115376548 0.00769
NM_032119.4(ADGRV1):c.7179C>T (p.Asp2393=) rs111033429 0.00767
NM_001134407.3(GRIN2A):c.2190C>T (p.Tyr730=) rs61753382 0.00763
NM_001386140.1(MTTP):c.502G>A (p.Val168Ile) rs61750974 0.00763
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) rs56177950 0.00760
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_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290 0.00735
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783 0.00733
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_001605.3(AARS1):c.2791G>A (p.Gly931Ser) rs149377346 0.00718
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_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_001127222.2(CACNA1A):c.7431C>T (p.Tyr2477=) rs16059 0.00712
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679 0.00707
NM_004519.4(KCNQ3):c.2306C>A (p.Pro769His) rs114095081 0.00702
NM_015272.5(RPGRIP1L):c.3372C>T (p.Ser1124=) rs146902870 0.00702
NM_024411.5(PDYN):c.436A>C (p.Met146Leu) rs77155664 0.00698
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_016373.4(WWOX):c.754C>G (p.Pro252Ala) rs75559202 0.00684
NM_001148.6(ANK2):c.2377-8C>T rs139893914 0.00682
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_001106.4(ACVR2B):c.1075-5C>T rs115155428 0.00657
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_000051.4(ATM):c.6235G>A (p.Val2079Ile) rs1800060 0.00649
NM_032444.4(SLX4):c.1803G>A (p.Ser601=) rs144892556 0.00649
NM_020529.3(NFKBIA):c.548-3C>T rs2233418 0.00648
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_017668.3(NDE1):c.948-6839G>A rs183176702 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_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_000081.4(LYST):c.10941-7C>A rs72761794 0.00614
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_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00601
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_001018020.2(TPM1):c.*31G>A rs11558748 0.00598
NM_001243133.2(NLRP3):c.1600C>T (p.Leu534=) rs116054301 0.00596
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile) rs148355156 0.00591
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_001161352.2(KCNMA1):c.3195C>T (p.Thr1065=) rs45527834 0.00578
NM_025243.4(SLC19A3):c.421G>A (p.Gly141Ser) rs148144444 0.00577
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_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_005535.3(IL12RB1):c.783+10C>T rs79972275 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_000043.6(FAS):c.369G>A (p.Gln123=) rs28362318 0.00529
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_014946.4(SPAST):c.131C>T (p.Ser44Leu) rs121908515 0.00521
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 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_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
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_014363.6(SACS):c.6781C>A (p.Leu2261Ile) rs146722795 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_182746.3(MCM4):c.2064G>A (p.Lys688=) rs143488457 0.00503
NM_006267.5(RANBP2):c.7849+4A>G rs2949961 0.00502
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_000081.4(LYST):c.5518T>G (p.Ser1840Ala) rs115330112 0.00485
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_001384732.1(CPLANE1):c.4698A>G (p.Leu1566=) rs143312971 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_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_001182.5(ALDH7A1):c.1567A>G (p.Thr523Ala) rs61757684 0.00449
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_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_000081.4(LYST):c.10800+4G>T rs41308172 0.00441
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_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
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_031885.5(BBS2):c.805-20A>G rs41280892 0.00423
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_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_002471.4(MYH6):c.4651-12A>C rs193922653 0.00413
NM_173689.7(CRB2):c.1428T>G (p.Thr476=) rs142345530 0.00412
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_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297 0.00407
NM_001081.4(CUBN):c.1003G>A (p.Ala335Thr) rs57335729 0.00406
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766 0.00405
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_003705.5(SLC25A12):c.1458G>A (p.Ala486=) rs142179562 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_015910.7(WDPCP):c.68C>A (p.Pro23Gln) rs141340867 0.00398
NM_018344.6(SLC29A3):c.618C>T (p.Ala206=) rs141413620 0.00398
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581 0.00396
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_001378452.1(ITPR1):c.1480G>A (p.Val494Ile) rs41289628 0.00391
NM_015192.4(PLCB1):c.1469A>G (p.Tyr490Cys) rs45608240 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_031885.5(BBS2):c.1110T>C (p.Ala370=) rs148990271 0.00389
NM_001009944.3(PKD1):c.9957C>T (p.Ser3319=) rs141101590 0.00388
NM_001385875.1(ZFYVE27):c.62C>T (p.Ala21Val) rs140812293 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_000091.5(COL4A3):c.3258G>A (p.Gly1086=) rs147085074 0.00385
NM_007074.4(CORO1A):c.804C>T (p.Ser268=) rs149867063 0.00385
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_198428.3(BBS9):c.1246G>A (p.Val416Met) rs61764067 0.00375
NM_003900.5(SQSTM1):c.984G>A (p.Ser328=) rs146164139 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_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser) rs143037290 0.00369
NM_004064.5(CDKN1B):c.426G>A (p.Thr142=) rs149775942 0.00366
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_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_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_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_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_014629.4(ARHGEF10):c.38-10T>C rs138713415 0.00351
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_001184.4(ATR):c.6394T>G (p.Tyr2132Asp) rs28910273 0.00349
NM_000535.7(PMS2):c.1266G>A (p.Glu422=) rs138049175 0.00348
NM_000631.5(NCF4):c.343-4A>G rs79312013 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_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_005472.5(KCNE3):c.248G>A (p.Arg83His) rs17215437 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_005546.4(ITK):c.1759G>A (p.Val587Ile) rs56005928 0.00337
NM_001540.5(HSPB1):c.9G>A (p.Glu3=) rs77586767 0.00336
NM_006393.3(NEBL):c.480+3A>G rs71578983 0.00336
NM_007315.4(STAT1):c.633+6T>A rs45459703 0.00335
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_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_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_001165963.4(SCN1A):c.2889T>C (p.Ala963=) rs144679294 0.00321
NM_001365276.2(TNXB):c.4562C>T (p.Ala1521Val) rs146120469 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_000878.5(IL2RB):c.235G>A (p.Val79Met) rs149508414 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_032119.4(ADGRV1):c.18273A>G (p.Ala6091=) rs137853918 0.00316
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val) rs41306397 0.00315
NM_000053.4(ATP7B):c.3557-6C>T rs140708492 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_030930.4(UNC93B1):c.393-10C>T rs117183629 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_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_017636.4(TRPM4):c.3611C>T (p.Pro1204Leu) rs150391806 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_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_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
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_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_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_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
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_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_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_001558.4(IL10RA):c.67+8T>C rs200992970 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_001458.5(FLNC):c.4928-7T>C rs201957008 0.00286
NM_001943.5(DSG2):c.2886T>G (p.Ile962Met) rs79229040 0.00285
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_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_000022.4(ADA):c.162G>A (p.Lys54=) rs45557242 0.00282
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_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_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_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_000257.4(MYH7):c.4452C>T (p.Leu1484=) rs61737803 0.00275
NM_001308093.3(GATA4):c.825C>T (p.Cys275=) rs55980825 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_001558.4(IL10RA):c.696C>T (p.Thr232=) rs4252311 0.00274
NM_003764.4(STX11):c.546G>A (p.Glu182=) rs146949718 0.00274
NM_007315.4(STAT1):c.1347+8T>G rs16833147 0.00274
NM_016729.3(FOLR1):c.292C>T (p.Arg98Trp) rs76191655 0.00274
NM_020822.3(KCNT1):c.333G>A (p.Ser111=) rs56008253 0.00273
NM_000065.5(C6):c.2518G>A (p.Gly840Ser) rs142836385 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_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_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_000186.4(CFH):c.3150T>C (p.Asn1050=) rs113347629 0.00269
NM_000213.5(ITGB4):c.4008C>T (p.Asp1336=) rs61735288 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_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_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_001379286.1(ZNF423):c.3393C>T (p.Pro1131=) rs61755180 0.00261
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_006947.4(SRP72):c.58C>T (p.Arg20Trp) rs111673705 0.00260
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_017662.5(TRPM6):c.633T>C (p.Gly211=) rs144221623 0.00259
NM_182914.3(SYNE2):c.20410G>A (p.Asp6804Asn) rs150644129 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_138694.4(PKHD1):c.1950G>A (p.Arg650=) rs143226202 0.00257
NM_001271.4(CHD2):c.608A>G (p.Lys203Arg) rs117844037 0.00256
NM_014804.3(KIAA0753):c.1545+10C>T rs147784976 0.00255
NM_018344.6(SLC29A3):c.1001A>G (p.Asn334Ser) rs144665176 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_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_005751.5(AKAP9):c.6556T>C (p.Ser2186Pro) rs76177450 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_030787.4(CFHR5):c.732C>T (p.Asn244=) rs41306229 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_005629.4(SLC6A8):c.813C>T (p.Val271=) rs138064933 0.00248
NM_000718.4(CACNA1B):c.4473+17G>A rs80100052 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_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_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_032119.4(ADGRV1):c.3295A>G (p.Thr1099Ala) rs61754947 0.00245
NM_000875.5(IGF1R):c.2782+17G>A rs186895929 0.00244
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482 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_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_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_002474.3(MYH11):c.3828G>A (p.Ala1276=) rs113154524 0.00240
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_021813.4(BACH2):c.2103A>G (p.Glu701=) rs116588681 0.00238
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_001365276.2(TNXB):c.9612C>T (p.Asp3204=) rs61746872 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_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_014141.6(CNTNAP2):c.681C>T (p.His227=) rs142984073 0.00236
NM_002292.4(LAMB2):c.2307C>T (p.Leu769=) rs147076626 0.00235
NM_012388.4(BLOC1S6):c.82+10A>G rs370370639 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_001134363.3(RBM20):c.1986G>A (p.Pro662=) rs537723089 0.00233
NM_007294.4(BRCA1):c.114G>A (p.Lys38=) rs1800062 0.00233
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly) rs149804567 0.00233
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_001033855.3(DCLRE1C):c.2001A>G (p.Leu667=) rs61749163 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_020247.5(COQ8A):c.948C>T (p.Leu316=) rs55637780 0.00229
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_000092.5(COL4A4):c.4217-15T>C rs200926310 0.00228
NM_000285.4(PEPD):c.1098C>T (p.His366=) rs149579451 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_001037.5(SCN1B):c.448+193G>A rs66876876 0.00227
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu) rs187029309 0.00227
NM_001379081.2(FREM1):c.2796C>T (p.Arg932=) rs138176565 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_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_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_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_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_001270508.2(TNFAIP3):c.2175G>A (p.Leu725=) rs140354477 0.00221
NM_001375808.2(LPIN2):c.1735T>C (p.Ser579Pro) rs150022314 0.00221
NM_000257.4(MYH7):c.297C>T (p.Pro99=) rs140245862 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_000186.4(CFH):c.3207T>C (p.Ser1069=) rs62641697 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_003640.5(ELP1):c.2543C>A (p.Thr848Asn) rs10979599 0.00218
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575 0.00218
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_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
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_000824.5(GLRB):c.527+7T>C rs138020195 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_006070.6(TFG):c.415+16A>G rs201290760 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_001244008.2(KIF1A):c.3888C>T (p.Arg1296=) rs144520412 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_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_001148.6(ANK2):c.6648C>G (p.Gly2216=) rs140926982 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_001386795.1(DTNA):c.1297C>T (p.His433Tyr) rs139872140 0.00207
NM_014314.4(RIGI):c.1059C>T (p.Asn353=) rs45471397 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_000346.4(SOX9):c.685+8G>A rs117696751 0.00205
NM_001035.3(RYR2):c.2760G>A (p.Glu920=) rs186181155 0.00205
NM_001148.6(ANK2):c.2277+9C>T rs141965666 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_001191061.2(SLC25A22):c.169G>A (p.Val57Ile) rs150242281 0.00204
NM_006267.5(RANBP2):c.4760G>T (p.Gly1587Val) rs148677577 0.00204
NM_001267550.2(TTN):c.91937A>G (p.Asn30646Ser) rs72648245 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_014956.5(CEP164):c.2772C>G (p.Leu924=) rs117473319 0.00201
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_001164508.2(NEB):c.3593A>G (p.Asn1198Ser) rs146616621 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_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_004958.4(MTOR):c.663C>G (p.Thr221=) rs112439072 0.00198
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_001127255.2(NLRP7):c.2094C>T (p.His698=) rs104895524 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_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_194454.3(KRIT1):c.1245T>G (p.Ile415Met) rs41278788 0.00194
NM_207361.6(FREM2):c.84C>G (p.Pro28=) rs141718695 0.00194
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006 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_001605.3(AARS1):c.2521-3C>T rs200586605 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_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_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_001382347.1(MYO5A):c.5234+12C>T rs113067572 0.00185
NM_004415.4(DSP):c.1206G>A (p.Lys402=) rs150422458 0.00185
NM_006929.5(SKIC2):c.1705G>A (p.Val569Met) rs144147284 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_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_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_000535.7(PMS2):c.23+10G>C rs192027828 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_020822.3(KCNT1):c.3383C>T (p.Ala1128Val) rs143704418 0.00182
NM_001128178.3(NPHP1):c.1270-4C>T rs151204566 0.00181
NM_198586.3(NHLRC1):c.32C>A (p.Ala11Glu) rs139029314 0.00181
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_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_033118.4(MYLK2):c.1295+4C>A rs113936360 0.00179
NM_182643.3(DLC1):c.3856-6G>A rs200102232 0.00179
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_031471.6(FERMT3):c.1317G>A (p.Gln439=) rs72920390 0.00178
NM_032193.4(RNASEH2C):c.468+13G>A rs182000627 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_182961.4(SYNE1):c.5999G>A (p.Arg2000Lys) rs149146258 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_000090.4(COL3A1):c.812G>A (p.Arg271Gln) rs112185887 0.00176
NM_000297.4(PKD2):c.1445T>G (p.Phe482Cys) rs75762896 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_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_004281.4(BAG3):c.25A>G (p.Met9Val) rs137965903 0.00175
NM_004944.4(DNASE1L3):c.543G>A (p.Ala181=) rs61730077 0.00175
NM_001715.3(BLK):c.711C>T (p.Pro237=) rs143699141 0.00174
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461 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_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_002474.3(MYH11):c.5800A>T (p.Thr1934Ser) rs113667224 0.00171
NM_021098.3(CACNA1H):c.6195C>T (p.Ala2065=) rs375589233 0.00171
NM_001148.6(ANK2):c.8354C>T (p.Ser2785Leu) rs145895389 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_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
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_016156.6(MTMR2):c.1855T>C (p.Ser619Pro) rs116750638 0.00169
NM_000026.4(ADSL):c.1010+18A>G rs201019280 0.00168
NM_001366722.1(GRIP1):c.2283G>A (p.Ser761=) rs200863167 0.00168
NM_006929.5(SKIC2):c.3666G>A (p.Leu1222=) rs142860816 0.00168
NM_000836.4(GRIN2D):c.2271C>T (p.Ile757=) rs144676582 0.00167
NM_001384732.1(CPLANE1):c.8790C>T (p.Ser2930=) rs148005445 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_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_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_001144967.3(NEDD4L):c.2613C>T (p.Asn871=) rs141136641 0.00163
NM_001349253.2(SCN11A):c.2213C>T (p.Pro738Leu) rs140995438 0.00163
NM_001482.3(GATM):c.669T>C (p.Tyr223=) rs151231277 0.00163
NM_014476.6(PDLIM3):c.60C>A (p.Gly20=) rs113792127 0.00163
NM_000355.4(TCN2):c.280G>A (p.Gly94Ser) rs11557600 0.00162
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_001370298.3(FGD4):c.666A>T (p.Ala222=) rs139357821 0.00161
NM_006509.4(RELB):c.1563C>T (p.Ala521=) rs199742203 0.00161
NM_001166114.2(PNPLA6):c.2359G>A (p.Val787Met) rs145988230 0.00160
NM_001458.5(FLNC):c.5644A>G (p.Ile1882Val) rs184018403 0.00160
NM_003200.5(TCF3):c.315G>A (p.Arg105=) rs144176765 0.00160
NM_006904.7(PRKDC):c.3315G>T (p.Val1105=) rs56047668 0.00160
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_032193.4(RNASEH2C):c.468G>T (p.Ala156=) rs61736590 0.00159
NM_152743.4(BRAT1):c.2208G>T (p.Leu736=) rs61753093 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_018668.5(VPS33B):c.1166G>A (p.Arg389Gln) rs145070485 0.00158
NM_170707.4(LMNA):c.1851C>T (p.Ala617=) rs143189394 0.00158
NM_152424.4(AMER1):c.2651C>T (p.Pro884Leu) rs201092215 0.00157
NM_000238.4(KCNH2):c.1129-18C>T rs78794789 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_002473.6(MYH9):c.5818G>A (p.Gly1940Arg) rs140588099 0.00156
NM_002838.5(PTPRC):c.3670G>A (p.Val1224Ile) rs150672767 0.00156
NM_053025.4(MYLK):c.4289-4C>G rs376670657 0.00156
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_016341.4(PLCE1):c.2076A>T (p.Thr692=) rs147203844 0.00155
NM_017654.4(SAMD9):c.4102G>A (p.Glu1368Lys) rs138600971 0.00155
NM_177965.4(CFAP418):c.528A>G (p.Thr176=) rs143748636 0.00155
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_032578.4(MYPN):c.1104C>T (p.Gly368=) rs144764983 0.00154
NM_182961.4(SYNE1):c.25617G>A (p.Glu8539=) rs118187988 0.00154
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_001540.5(HSPB1):c.178C>T (p.Pro60Ser) rs61751217 0.00153
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala) rs142992009 0.00153
NM_014476.6(PDLIM3):c.993C>A (p.Gly331=) rs139493914 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_001999.4(FBN2):c.953-8T>G rs201818403 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_001161352.2(KCNMA1):c.1320C>T (p.Ile440=) rs45617636 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_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_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_004115.4(FGF14):c.636T>C (p.His212=) rs41281644 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_015346.4(ZFYVE26):c.677G>A (p.Arg226His) rs147919567 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_002693.3(POLG):c.1890C>T (p.Asn630=) rs148658588 0.00146
NM_032119.4(ADGRV1):c.11378-20G>A rs190125624 0.00146
NM_001009944.3(PKD1):c.7636C>T (p.His2546Tyr) rs200037070 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_006766.5(KAT6A):c.4952C>T (p.Pro1651Leu) rs144417514 0.00145
NM_022436.3(ABCG5):c.696C>T (p.Val232=) rs72796720 0.00145
NM_001009944.3(PKD1):c.2235C>G (p.Ala745=) rs533569454 0.00144
NM_001378452.1(ITPR1):c.3207C>T (p.Thr1069=) rs186541002 0.00143
NM_000064.4(C3):c.2901C>T (p.Leu967=) rs34029609 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_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_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_152296.5(ATP1A3):c.816G>A (p.Thr272=) rs149898088 0.00140
NM_012079.6(DGAT1):c.1407C>T (p.Val469=) rs17851331 0.00139
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_000059.4(BRCA2):c.631+43G>T rs276174869 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_001999.4(FBN2):c.2555-7A>G rs28763949 0.00137
NM_005188.4(CBL):c.2190G>C (p.Thr730=) rs143840974 0.00137
NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu) rs142401936 0.00137
NM_153460.4(IL17RC):c.823-4C>T rs200220568 0.00137
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_000053.4(ATP7B):c.1278C>T (p.Val426=) rs143556945 0.00135
NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr) rs139956524 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_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_138927.4(SON):c.1664C>T (p.Thr555Met) rs13049658 0.00135
NM_000176.3(NR3C1):c.685G>A (p.Ala229Thr) rs72542742 0.00134
NM_001267550.2(TTN):c.8902+14T>A rs13388274 0.00134
NM_024027.5(COLEC11):c.432C>T (p.Ala144=) rs141691492 0.00134
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_019066.5(MAGEL2):c.1304C>T (p.Pro435Leu) rs2233062 0.00132
NM_024570.4(RNASEH2B):c.859G>T (p.Ala287Ser) rs144408326 0.00132
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_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_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_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_030777.4(SLC2A10):c.1512G>A (p.Ser504=) rs117587497 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_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_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_000439.5(PCSK1):c.1197-9C>T rs200973203 0.00125
NM_001164508.2(NEB):c.2510A>G (p.Lys837Arg) rs189623595 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_022437.3(ABCG8):c.1785C>T (p.Phe595=) rs139677898 0.00123
NM_032119.4(ADGRV1):c.6608T>C (p.Val2203Ala) rs200055351 0.00123
NM_032578.4(MYPN):c.3481C>A (p.Leu1161Ile) rs138313730 0.00123
NM_145046.5(CALR3):c.125A>G (p.Asn42Ser) rs149634686 0.00123
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_001005498.4(RHBDF2):c.2064+7A>G rs201734337 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_005120.3(MED12):c.5400+6C>T rs192656109 0.00121
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe) rs2227988 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_001374385.1(ATP8B1):c.913T>A (p.Phe305Ile) rs150860808 0.00120
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=) rs28763920 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_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743 0.00118
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) rs199853721 0.00118
NM_002547.3(OPHN1):c.2029C>A (p.Leu677Met) rs143713841 0.00118
NM_145046.5(CALR3):c.398-6T>C rs376479901 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_004463.3(FGD1):c.395G>A (p.Arg132Gln) rs145644275 0.00117
NM_004984.4(KIF5A):c.2839A>G (p.Thr947Ala) rs150672943 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_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_002471.4(MYH6):c.1122G>A (p.Ala374=) rs148091079 0.00116
NM_005477.3(HCN4):c.1356C>T (p.Ser452=) rs148453034 0.00116
NM_182914.3(SYNE2):c.19248C>G (p.Pro6416=) rs150363140 0.00116
NM_000337.6(SGCD):c.213G>A (p.Arg71=) rs74846539 0.00115
NM_001267550.2(TTN):c.52852C>T (p.Arg17618Cys) rs201213901 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_001943.5(DSG2):c.2703A>G (p.Lys901=) rs113591687 0.00114
NM_002473.6(MYH9):c.705+11C>T rs201738304 0.00114
NM_000335.5(SCN5A):c.3870G>A (p.Leu1290=) rs41313033 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_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_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_001458.5(FLNC):c.4581-5T>A rs368660628 0.00111
NM_002474.3(MYH11):c.57C>T (p.Asn19=) rs148464745 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_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_004525.3(LRP2):c.391A>G (p.Arg131Gly) rs34592807 0.00109
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_006772.3(SYNGAP1):c.3134C>G (p.Ala1045Gly) rs139759084 0.00108
NM_017909.4(RMND1):c.1209T>C (p.Asn403=) rs75177593 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_001134363.3(RBM20):c.3170G>A (p.Arg1057Gln) rs188054898 0.00107
NM_001378452.1(ITPR1):c.4254G>T (p.Val1418=) rs142527379 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_001103.4(ACTN2):c.1383C>T (p.Ile461=) rs34827377 0.00106
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) rs35912339 0.00106
NM_001267550.2(TTN):c.63165G>A (p.Pro21055=) rs72646852 0.00105
NM_005045.4(RELN):c.474-7T>C rs55693709 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_000188.3(HK1):c.2610-13T>A rs140249926 0.00104
NM_001927.4(DES):c.18G>A (p.Ser6=) rs199972656 0.00104
NM_001042432.2(CLN3):c.768C>T (p.Thr256=) rs145967477 0.00103
NM_015662.3(IFT172):c.3530+7T>C rs150882197 0.00103
NM_024675.4(PALB2):c.1194G>A (p.Val398=) rs61755173 0.00103
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=) rs147961615 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_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649 0.00102
NM_006096.4(NDRG1):c.789G>A (p.Ser263=) rs61755062 0.00102
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_005751.5(AKAP9):c.9358+11T>C rs199714035 0.00101
NM_006231.4(POLE):c.1360-6C>T rs139836643 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_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_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_205836.3(FBXO38):c.3019C>A (p.Gln1007Lys) rs112383068 0.00099
NM_005045.4(RELN):c.4748-11T>C rs201494847 0.00098
NM_015570.4(AUTS2):c.385C>G (p.Leu129Val) rs145480547 0.00098
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655 0.00097
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_004281.4(BAG3):c.1436C>T (p.Ala479Val) rs34656239 0.00097
NM_006258.4(PRKG1):c.1071A>G (p.Lys357=) rs75650199 0.00097
NM_000091.5(COL4A3):c.222G>T (p.Pro74=) rs187950806 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_032578.4(MYPN):c.2880T>G (p.Ser960=) rs146028308 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_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_001079.4(ZAP70):c.1467C>T (p.Asp489=) rs55997284 0.00094
NM_001103.4(ACTN2):c.1864G>A (p.Asp622Asn) rs138452803 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_182914.3(SYNE2):c.12572G>A (p.Gly4191Asp) rs145227848 0.00094
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_002968.3(SALL1):c.411C>T (p.Ser137=) rs151051011 0.00093
NM_006070.6(TFG):c.258G>T (p.Leu86=) rs150620449 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_139058.3(ARX):c.802G>T (p.Val268Leu) rs587783141 0.00093
NM_000214.3(JAG1):c.1578C>T (p.Ile526=) rs1801139 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_000726.5(CACNB4):c.5C>T (p.Ser2Phe) rs200092211 0.00091
NM_001037.5(SCN1B):c.5+7C>T rs28365106 0.00091
NM_001267550.2(TTN):c.60821C>T (p.Pro20274Leu) rs72646845 0.00091
NM_004415.4(DSP):c.5218G>A (p.Glu1740Lys) rs142885240 0.00091
NM_014000.3(VCL):c.660C>T (p.Asn220=) rs56264452 0.00091
NM_139276.3(STAT3):c.1329C>T (p.Thr443=) rs147955721 0.00091
NM_182961.4(SYNE1):c.6826-6A>G rs183683592 0.00091
NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln) rs138842207 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_001197104.2(KMT2A):c.10850T>C (p.Leu3617Pro) rs146191865 0.00089
NM_001374736.1(DST):c.5059-17C>G rs190803185 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_001289808.2(CRYAB):c.460G>A (p.Gly154Ser) rs150516929 0.00088
NM_001291303.3(FAT4):c.14940A>G (p.Glu4980=) rs149073729 0.00088
NM_020822.3(KCNT1):c.1134C>T (p.Val378=) rs149960236 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_138927.4(SON):c.3012T>C (p.Ala1004=) rs148794591 0.00088
NM_001267550.2(TTN):c.5479G>T (p.Ala1827Ser) rs141213991 0.00087
NM_003665.4(FCN3):c.498G>C (p.Glu166Asp) rs56405086 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_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_016203.4(PRKAG2):c.1584+7C>T rs111627309 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_004281.4(BAG3):c.280A>T (p.Ile94Phe) rs145393807 0.00085
NM_001734.5(C1S):c.1326C>T (p.Ser442=) rs148573885 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_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_173689.7(CRB2):c.516C>T (p.Cys172=) rs146687164 0.00083
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_007078.3(LDB3):c.466G>A (p.Ala156Thr) rs200596619 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_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_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_024422.6(DSC2):c.2636A>G (p.Asp879Gly) rs143342988 0.00079
NM_031407.7(HUWE1):c.10707T>C (p.Phe3569=) rs150358853 0.00079
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_032043.3(BRIP1):c.918+15T>A rs117820198 0.00078
NM_000122.2(ERCC3):c.618C>T (p.Ala206=) rs145830873 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_001458.5(FLNC):c.7990+9C>T rs566679569 0.00077
NM_004958.4(MTOR):c.2070G>A (p.Ala690=) rs55752564 0.00077
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) rs148058006 0.00077
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr) rs370890951 0.00076
NM_000335.5(SCN5A):c.2437-13C>T rs45455099 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_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_005334.3(HCFC1):c.2590G>A (p.Ala864Thr) rs190023981 0.00075
NM_001105206.3(LAMA4):c.1959T>C (p.Asp653=) rs143269044 0.00074
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_001267550.2(TTN):c.87412C>A (p.Pro29138Thr) rs72648227 0.00073
NM_001943.5(DSG2):c.216+16G>A rs200239610 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_138694.4(PKHD1):c.9215C>T (p.Ala3072Val) rs139306706 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_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_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_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_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.95653G>A (p.Ala31885Thr) rs72648263 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_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_001110556.2(FLNA):c.5251C>T (p.Pro1751Ser) rs56102764 0.00069
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=) rs200173934 0.00069
NM_001134407.3(GRIN2A):c.4307A>G (p.Asn1436Ser) rs77029288 0.00068
NM_001289808.2(CRYAB):c.152C>T (p.Pro51Leu) rs2234704 0.00068
NM_001320752.2(STS):c.1124G>C (p.Gly375Ala) rs145886038 0.00068
NM_001458.5(FLNC):c.4022G>A (p.Arg1341Gln) rs149641783 0.00068
NM_006516.4(SLC2A1):c.777C>T (p.Ile259=) rs78388808 0.00068
NM_001276345.2(TNNT2):c.98-81G>A rs45576939 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_001375405.1(CEP120):c.1671G>A (p.Leu557=) rs75289011 0.00066
NM_002294.3(LAMP2):c.339C>T (p.Ser113=) rs147369153 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_031157.4(HNRNPA1):c.546A>G (p.Ser182=) rs200707918 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_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_001184880.2(PCDH19):c.769G>C (p.Val257Leu) rs201713027 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_007294.4(BRCA1):c.4812A>G (p.Gln1604=) rs28897693 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_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_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_033028.5(BBS4):c.1236A>T (p.Glu412Asp) rs147202164 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_003482.4(KMT2D):c.3373C>T (p.Leu1125=) rs190643171 0.00062
NM_013382.7(POMT2):c.1701C>G (p.Pro567=) rs151051452 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_000393.5(COL5A2):c.3471+8A>T rs367643805 0.00061
NM_001130438.3(SPTAN1):c.7161-9C>T rs187613754 0.00061
NM_001267550.2(TTN):c.39211+6C>T rs187365142 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_001943.5(DSG2):c.852T>C (p.Asn284=) rs62095193 0.00061
NM_002180.3(IGHMBP2):c.1290C>T (p.Tyr430=) rs140654955 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.5246T>C (p.Ile1749Thr) rs150016098 0.00061
NM_015102.5(NPHP4):c.4114C>T (p.Leu1372=) rs374146357 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_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.5962-8C>T rs749575443 0.00061
NM_000054.7(AVPR2):c.1055G>A (p.Gly352Asp) rs146350208 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_001458.5(FLNC):c.1519G>A (p.Gly507Arg) rs189525930 0.00060
NM_002691.4(POLD1):c.883G>A (p.Val295Met) rs199545019 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_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_001134407.3(GRIN2A):c.2883C>T (p.Asn961=) rs77705198 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_133379.5(TTN):c.10920T>C (p.Ser3640=) rs142585268 0.00059
NM_000022.4(ADA):c.606+10G>A rs201045221 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_001037.5(SCN1B):c.412G>A (p.Val138Ile) rs72558029 0.00058
NM_001377405.1(ATXN7):c.1012+13T>A rs183496477 0.00058
NM_032578.4(MYPN):c.1236C>A (p.Thr412=) rs151220474 0.00058
NM_000142.5(FGFR3):c.1671C>T (p.Tyr557=) rs370408732 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_000234.3(LIG1):c.108-5T>C rs200668350 0.00056
NM_001110556.2(FLNA):c.3915G>A (p.Thr1305=) rs201488545 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.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_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_004415.4(DSP):c.1778A>G (p.Asn593Ser) rs34239595 0.00055
NM_013266.4(CTNNA3):c.1929C>T (p.His643=) rs147760277 0.00055
NM_016203.4(PRKAG2):c.1106+9G>C rs200429988 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_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_002470.4(MYH3):c.3731C>T (p.Ala1244Val) rs140074626 0.00054
NM_002471.4(MYH6):c.3573C>T (p.Ala1191=) rs727505358 0.00054
NM_014141.6(CNTNAP2):c.3522A>T (p.Gly1174=) rs141078449 0.00054
NM_000335.5(SCN5A):c.895T>A (p.Leu299Met) rs199473087 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_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_015046.7(SETX):c.3336T>C (p.Ala1112=) rs150687078 0.00053
NM_015922.3(NSDHL):c.356G>A (p.Arg119Lys) rs200930841 0.00053
NM_201384.3(PLEC):c.8040C>T (p.Asp2680=) rs373341589 0.00053
NM_001018004.2(TPM1):c.775A>G (p.Lys259Glu) rs144045691 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_006258.4(PRKG1):c.1963-16T>G rs376174664 0.00052
NM_007126.5(VCP):c.*4G>T rs201091341 0.00052
NM_025074.7(FRAS1):c.6939C>T (p.Pro2313=) rs150936204 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_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_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_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_001065.4(TNFRSF1A):c.1075C>T (p.Leu359=) rs151344628 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_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_004168.4(SDHA):c.723C>T (p.Asp241=) rs146653693 0.00049
NM_004407.4(DMP1):c.1107C>T (p.Asp369=) rs147451774 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.631+25C>T rs367871824 0.00048
NM_000059.4(BRCA2):c.9720T>C (p.Val3240=) rs80359810 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_001291415.2(KDM6A):c.1558T>C (p.Cys520Arg) rs138723332 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_020433.5(JPH2):c.572C>G (p.Pro191Arg) rs554853074 0.00048
NM_020774.4(MIB1):c.2586+17A>G rs370642266 0.00048
NM_024334.3(TMEM43):c.705+7G>A rs201916031 0.00048
NM_170707.4(LMNA):c.1911C>T (p.Phe637=) rs117939448 0.00048
NM_000059.4(BRCA2):c.9649-19G>A rs11571830 0.00047
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_005120.3(MED12):c.2613G>A (p.Gln871=) rs372344160 0.00047
NM_019842.4(KCNQ5):c.1689A>G (p.Arg563=) rs116950019 0.00047
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_000059.4(BRCA2):c.7976+45G>C rs11571718 0.00046
NM_000364.3(TNNT2):c.113C>T (p.Ala38Val) rs200754249 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_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_002474.3(MYH11):c.3816G>A (p.Glu1272=) rs112990531 0.00046
NM_004006.3(DMD):c.2457A>C (p.Leu819=) rs72468680 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_024334.3(TMEM43):c.1105C>T (p.Leu369Phe) rs144152046 0.00046
NM_000335.5(SCN5A):c.2437-5C>A rs72549411 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_001458.5(FLNC):c.3966C>T (p.Gly1322=) rs200237564 0.00045
NM_004172.5(SLC1A3):c.648T>C (p.Asn216=) rs139342707 0.00045
NM_053025.4(MYLK):c.999G>A (p.Pro333=) rs13319347 0.00045
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728 0.00044
NM_000257.4(MYH7):c.3960G>A (p.Glu1320=) rs147797612 0.00044
NM_002087.4(GRN):c.903G>A (p.Ser301=) rs63750142 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_000335.5(SCN5A):c.1044C>T (p.Pro348=) rs370346797 0.00043
NM_001037.5(SCN1B):c.448+314C>A rs373295182 0.00043
NM_002471.4(MYH6):c.4905C>T (p.Asn1635=) rs143048583 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_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_000368.5(TSC1):c.2285A>G (p.Asn762Ser) rs118203670 0.00041
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=) rs373606009 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_002471.4(MYH6):c.643-5C>T rs199859986 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_005660.3(SLC35A2):c.30C>G (p.Thr10=) rs373480204 0.00041
NM_015335.5(MED13L):c.4691C>T (p.Pro1564Leu) rs112709561 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_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_001005242.3(PKP2):c.1418A>G (p.Asn473Ser) rs144536197 0.00039
NM_001035.3(RYR2):c.9519T>C (p.Thr3173=) rs371931287 0.00039
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile) rs56105708 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_000186.4(CFH):c.245-8C>T rs537160602 0.00038
NM_000238.4(KCNH2):c.1128+1865C>T rs200324802 0.00038
NM_001008537.3(NEXMIF):c.2098G>C (p.Val700Leu) rs141776597 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_006397.3(RNASEH2A):c.662A>G (p.Lys221Arg) rs143534021 0.00038
NM_015046.7(SETX):c.7432A>G (p.Thr2478Ala) rs142303658 0.00038
NM_022436.3(ABCG5):c.1365C>T (p.Asp455=) rs141016088 0.00038
NM_000179.3(MSH6):c.1449G>T (p.Val483=) rs35590297 0.00037
NM_001009944.3(PKD1):c.5577T>C (p.Ala1859=) rs140662778 0.00037
NM_032578.4(MYPN):c.1662A>C (p.Ala554=) rs71584488 0.00037
NM_000256.3(MYBPC3):c.906-7G>T rs397516079 0.00036
NM_000257.4(MYH7):c.2349C>T (p.Arg783=) rs139882431 0.00036
NM_000258.3(MYL3):c.307+15C>T rs184025552 0.00036
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met) rs74772771 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_002471.4(MYH6):c.4136C>T (p.Thr1379Met) rs145611185 0.00036
NM_004006.3(DMD):c.3163-18T>C rs72468662 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_024422.6(DSC2):c.1914G>C (p.Gln638His) rs147742157 0.00036
NM_198994.3(TGM6):c.555C>T (p.Asp185=) rs144101264 0.00036
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_001267550.2(TTN):c.70907G>A (p.Arg23636His) rs56071233 0.00035
NM_002470.4(MYH3):c.3729+9C>T rs201955505 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_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_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_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_002524.5(NRAS):c.360G>A (p.Leu120=) rs143020946 0.00034
NM_002578.5(PAK3):c.1518G>A (p.Arg506=) rs377693111 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_017668.3(NDE1):c.948-2788A>G rs118072250 0.00034
NM_017780.4(CHD7):c.2185A>G (p.Lys729Glu) rs41272437 0.00034
NM_032043.3(BRIP1):c.380-17T>A rs200050729 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_000257.4(MYH7):c.4188G>A (p.Arg1396=) rs200852418 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_003042.4(SLC6A1):c.6G>A (p.Ala2=) rs6343 0.00032
NM_003978.5(PSTPIP1):c.354+10G>A rs370745407 0.00032
NM_004356.4(CD81):c.288C>T (p.Thr96=) rs202086417 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_021072.4(HCN1):c.240C>A (p.Gly80=) rs373664268 0.00032
NM_025137.4(SPG11):c.257+13G>A rs201936649 0.00032
NM_000501.4(ELN):c.1999C>T (p.Pro667Ser) rs142316834 0.00031
NM_000540.3(RYR1):c.8616+7G>A rs200023171 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_001360.3(DHCR7):c.126C>T (p.Ser42=) rs150928869 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_004519.4(KCNQ3):c.2263G>A (p.Asp755Asn) rs150821246 0.00031
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_053025.4(MYLK):c.711C>T (p.Asn237=) rs149407805 0.00031
NM_000092.5(COL4A4):c.3108T>C (p.Gly1036=) rs201962241 0.00030
NM_000258.3(MYL3):c.482-17C>T rs201289145 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_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.3178G>C (p.Val1060Leu) rs55771831 0.00029
NM_000335.5(SCN5A):c.3837+17G>A rs45466091 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_007078.3(LDB3):c.1035C>T (p.Ile345=) rs121908336 0.00029
NM_015631.6(TCTN3):c.889-8G>A rs374331871 0.00029
NM_020297.4(ABCC9):c.1557G>A (p.Glu519=) rs143346402 0.00029
NM_024649.5(BBS1):c.1695+10G>A rs200276861 0.00029
NM_145046.5(CALR3):c.60C>G (p.Thr20=) rs370721650 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_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.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_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_005334.3(HCFC1):c.4442C>T (p.Thr1481Met) rs199798029 0.00027
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=) rs80359788 0.00026
NM_000059.4(BRCA2):c.516+14C>T rs182828913 0.00026
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235 0.00026
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521 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_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_001035.3(RYR2):c.14757-19A>G rs190533014 0.00026
NM_001035.3(RYR2):c.8831-9A>C rs187977513 0.00026
NM_001267550.2(TTN):c.101925A>G (p.Leu33975=) rs201246720 0.00026
NM_001267550.2(TTN):c.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_002474.3(MYH11):c.914A>G (p.Asn305Ser) rs185661462 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_020774.4(MIB1):c.1830-18T>C rs201761957 0.00026
NM_024009.3(GJB3):c.264G>A (p.Ser88=) rs201469743 0.00026
NM_000384.3(APOB):c.2817-19T>G rs72653069 0.00025
NM_001267550.2(TTN):c.26672A>G (p.Asn8891Ser) rs146057575 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_053025.4(MYLK):c.2253C>T (p.Thr751=) rs138777049 0.00025
NM_001035.3(RYR2):c.10554+16T>C rs370288739 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.90624T>C (p.Asn30208=) rs370479059 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_007074.4(CORO1A):c.1146T>C (p.Gly382=) rs201734831 0.00024
NM_007294.4(BRCA1):c.528G>A (p.Thr176=) rs34545365 0.00024
NM_016599.5(MYOZ2):c.39G>A (p.Gln13=) rs145688699 0.00024
NM_024422.6(DSC2):c.1520+8C>G rs372979057 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_001110556.2(FLNA):c.237G>C (p.Ala79=) rs200626788 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_001267550.2(TTN):c.59344+3G>A rs142095604 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_005249.5(FOXG1):c.1323C>T (p.Ser441=) rs144434028 0.00023
NM_152296.5(ATP1A3):c.1193-4C>G rs200111818 0.00023
NM_000243.3(MEFV):c.1760-28T>A rs104895169 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_001378454.1(ALMS1):c.4228G>C (p.Ala1410Pro) rs201517720 0.00022
NM_002471.4(MYH6):c.4137G>A (p.Thr1379=) rs372158844 0.00022
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 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.62280T>C (p.Val20760=) rs372065796 0.00021
NM_001267550.2(TTN):c.93803A>C (p.Lys31268Thr) rs200766837 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_024422.6(DSC2):c.907G>A (p.Val303Met) rs145560678 0.00021
NM_170707.4(LMNA):c.1017G>A (p.Ala339=) rs17847242 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_004972.4(JAK2):c.143G>A (p.Gly48Glu) rs143227399 0.00020
NM_021625.5(TRPV4):c.1584+13C>T rs199712027 0.00020
NM_033118.4(MYLK2):c.972+14G>A rs193922713 0.00020
NM_053025.4(MYLK):c.1310-20T>C rs375101899 0.00020
NM_152424.4(AMER1):c.790G>A (p.Ala264Thr) rs150929706 0.00020
NM_000051.4(ATM):c.4980C>T (p.Asn1660=) rs144338238 0.00019
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205 0.00019
NM_000138.5(FBN1):c.6705A>C (p.Gly2235=) rs2229326 0.00019
NM_001035.3(RYR2):c.3024G>A (p.Ala1008=) rs566157997 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.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_002471.4(MYH6):c.2841C>T (p.Asp947=) rs140305424 0.00019
NM_004415.4(DSP):c.1344G>A (p.Leu448=) rs138226280 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_007294.4(BRCA1):c.4484+14A>G rs80358022 0.00019
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087 0.00019
NM_015102.5(NPHP4):c.1120-13G>T rs192450719 0.00019
NM_016203.4(PRKAG2):c.123C>T (p.Ser41=) rs397517263 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_000238.4(KCNH2):c.1128+1811G>A rs41313083 0.00018
NM_001148.6(ANK2):c.6633C>T (p.Ala2211=) rs143516811 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_001365536.1(SCN9A):c.2344-20A>T rs199905079 0.00018
NM_002230.4(JUP):c.426C>T (p.Arg142=) rs142599474 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_000169.3(GLA):c.123C>T (p.Thr41=) rs137902198 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_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_000257.4(MYH7):c.3727-18C>T rs369549958 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_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.96G>A (p.Ala32=) rs368239688 0.00016
NM_004172.5(SLC1A3):c.1425-8G>C rs202233020 0.00016
NM_006516.4(SLC2A1):c.972+7del rs531385270 0.00016
NM_014000.3(VCL):c.1842G>A (p.Thr614=) rs144117013 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_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_170707.4(LMNA):c.1656C>T (p.Asp552=) rs370219874 0.00016
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_001849.4(COL6A2):c.2331C>T (p.Cys777=) rs181711180 0.00015
NM_002230.4(JUP):c.2086+13C>T rs199935213 0.00015
NM_004006.3(DMD):c.9486G>A (p.Glu3162=) rs370724251 0.00015
NM_017780.4(CHD7):c.6513C>T (p.Ala2171=) rs376020564 0.00015
NM_000256.3(MYBPC3):c.2149-5C>T rs36211722 0.00014
NM_000256.3(MYBPC3):c.654+17C>T rs369864892 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_001267550.2(TTN):c.102561C>T (p.Tyr34187=) rs375625664 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_015272.5(RPGRIP1L):c.530-15T>C rs368728064 0.00014
NM_024334.3(TMEM43):c.864C>T (p.His288=) rs377585035 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_000138.5(FBN1):c.8232G>A (p.Gln2744=) rs376119827 0.00013
NM_000257.4(MYH7):c.2526T>C (p.Ser842=) rs554560162 0.00013
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279 0.00013
NM_001112741.2(KCNC1):c.683G>T (p.Arg228Leu) rs200873319 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_001458.5(FLNC):c.3090C>T (p.Pro1030=) rs760926290 0.00013
NM_001458.5(FLNC):c.600C>T (p.Pro200=) rs202105410 0.00013
NM_002230.4(JUP):c.1365C>T (p.Ala455=) rs77375949 0.00013
NM_002968.3(SALL1):c.235G>C (p.Ala79Pro) rs536108231 0.00013
NM_003640.5(ELP1):c.3222+14C>T rs374787755 0.00013
NM_007078.3(LDB3):c.1956C>T (p.Asp652=) rs139213290 0.00013
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633 0.00012
NM_000219.6(KCNE1):c.162C>T (p.Phe54=) rs17173508 0.00012
NM_000257.4(MYH7):c.4953+17G>A rs376604168 0.00012
NM_001008537.3(NEXMIF):c.3823A>G (p.Ser1275Gly) rs201434271 0.00012
NM_001127222.2(CACNA1A):c.3618A>G (p.Glu1206=) rs201236364 0.00012
NM_001267550.2(TTN):c.77052C>T (p.Gly25684=) rs372543652 0.00012
NM_001458.5(FLNC):c.5127C>T (p.Pro1709=) rs540345016 0.00012
NM_001999.4(FBN2):c.2625T>C (p.Cys875=) rs371502563 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_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_000059.4(BRCA2):c.6317T>C (p.Leu2106Pro) rs56172926 0.00011
NM_000218.3(KCNQ1):c.1476A>G (p.Glu492=) rs370676650 0.00011
NM_000335.5(SCN5A):c.1152C>T (p.Ser384=) rs372970828 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_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_001267550.2(TTN):c.18379T>G (p.Cys6127Gly) rs370812788 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_001291867.2(NHS):c.566-5T>C rs760065199 0.00011
NM_001372044.2(SHANK3):c.3959C>T (p.Ala1320Val) rs552332994 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_007294.4(BRCA1):c.1065G>A (p.Lys355=) rs41286292 0.00011
NM_007294.4(BRCA1):c.441+18C>T rs371973519 0.00011
NM_013266.4(CTNNA3):c.1732+8A>G rs372686443 0.00011
NM_022114.4(PRDM16):c.1719G>A (p.Ala573=) rs374254884 0.00011
NM_182961.4(SYNE1):c.2395G>A (p.Val799Ile) rs199670962 0.00011
NM_000214.3(JAG1):c.1608C>T (p.Asn536=) rs200648453 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_000455.5(STK11):c.787T>C (p.Leu263=) rs372378119 0.00010
NM_001035.3(RYR2):c.9067+10C>T rs372631657 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.49278T>C (p.Ala16426=) rs372633280 0.00010
NM_001267550.2(TTN):c.57478G>C (p.Val19160Leu) rs200778464 0.00010
NM_001267550.2(TTN):c.93981C>G (p.Val31327=) rs370894846 0.00010
NM_001943.5(DSG2):c.2643C>T (p.Thr881=) rs180695545 0.00010
NM_003664.5(AP3B1):c.2340C>T (p.Ser780=) rs199599147 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_033337.3(CAV3):c.168C>T (p.Gly56=) rs116840774 0.00010
NM_000051.4(ATM):c.5005+7_5005+8del rs587780626 0.00009
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser) rs80358572 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_000335.5(SCN5A):c.885G>A (p.Glu295=) rs373342830 0.00009
NM_000368.5(TSC1):c.1333+5A>G rs118203515 0.00009
NM_001008537.3(NEXMIF):c.4422G>A (p.Lys1474=) rs371190782 0.00009
NM_001110792.2(MECP2):c.1270G>A (p.Val424Ile) rs61753966 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_001378969.1(KCND3):c.1062C>A (p.Ile354=) rs150934088 0.00009
NM_001458.5(FLNC):c.2292C>T (p.Pro764=) rs369916201 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_018136.5(ASPM):c.9539A>C (p.Gln3180Pro) rs193251130 0.00009
NM_022114.4(PRDM16):c.3301G>A (p.Val1101Met) rs201654872 0.00009
NM_000038.6(APC):c.573T>C (p.Tyr191=) rs185154886 0.00008
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 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_001165963.4(SCN1A):c.4887C>T (p.Phe1629=) rs587780445 0.00008
NM_001458.5(FLNC):c.6988G>A (p.Gly2330Ser) rs527248119 0.00008
NM_004519.4(KCNQ3):c.1935A>G (p.Gln645=) rs587781011 0.00008
NM_005477.3(HCN4):c.3531G>T (p.Gly1177=) rs375911378 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_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_000238.4(KCNH2):c.2376C>T (p.Gly792=) rs745993706 0.00007
NM_000256.3(MYBPC3):c.2196C>T (p.Asp732=) rs397515955 0.00007
NM_000335.5(SCN5A):c.1842A>G (p.Pro614=) rs766696979 0.00007
NM_000337.6(SGCD):c.402T>C (p.Ala134=) rs190935424 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_001110556.2(FLNA):c.2023-4C>G rs368719012 0.00007
NM_002230.4(JUP):c.1774-6C>T rs375016135 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_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_000059.4(BRCA2):c.7057G>C (p.Gly2353Arg) rs80358935 0.00006
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705 0.00006
NM_000059.4(BRCA2):c.8662C>T (p.Arg2888Cys) rs80359123 0.00006
NM_000138.5(FBN1):c.8310C>T (p.His2770=) rs112189340 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_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_001035.3(RYR2):c.14808+17A>C rs368520821 0.00006
NM_001035.3(RYR2):c.1612+13A>G rs368200572 0.00006
NM_001105206.3(LAMA4):c.2232G>A (p.Thr744=) rs145489423 0.00006
NM_001261826.3(AP3D1):c.3285C>T (p.His1095=) rs773829362 0.00006
NM_001267550.2(TTN):c.57112-14T>C rs777473081 0.00006
NM_001267550.2(TTN):c.64673-5T>C rs530496528 0.00006
NM_001267550.2(TTN):c.73491T>C (p.Tyr24497=) rs545377175 0.00006
NM_001267550.2(TTN):c.86463A>G (p.Gly28821=) rs368268066 0.00006
NM_001267550.2(TTN):c.93444C>T (p.Tyr31148=) rs561739832 0.00006
NM_001352000.1(LOC110384692):c.2719= (p.Ala907=) rs796750528 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_003482.4(KMT2D):c.4986C>T (p.Cys1662=) rs143063879 0.00006
NM_004415.4(DSP):c.2437-20T>G rs778134276 0.00006
NM_007294.4(BRCA1):c.1617G>A (p.Thr539=) rs372002119 0.00006
NM_007294.4(BRCA1):c.2522G>A (p.Arg841Gln) rs80357337 0.00006
NM_014000.3(VCL):c.2349G>A (p.Val783=) rs558040780 0.00006
NM_017668.3(NDE1):c.948-9103C>T rs202120792 0.00006
NM_000059.4(BRCA2):c.5268A>G (p.Val1756=) rs199879914 0.00005
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932 0.00005
NM_000059.4(BRCA2):c.8525G>A (p.Arg2842His) rs80359105 0.00005
NM_000256.3(MYBPC3):c.1494C>G (p.Thr498=) rs397515906 0.00005
NM_001040151.2(SCN3B):c.570A>G (p.Ala190=) rs575419664 0.00005
NM_001080512.3(BICC1):c.637A>G (p.Ile213Val) rs550455235 0.00005
NM_001127222.2(CACNA1A):c.4591-9C>G rs16032 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.72113C>T (p.Thr24038Met) rs370375696 0.00005
NM_001267550.2(TTN):c.82486G>A (p.Asp27496Asn) rs554231442 0.00005
NM_001367721.1(CASK):c.195C>T (p.Ile65=) rs769320891 0.00005
NM_001458.5(FLNC):c.2490C>T (p.Thr830=) rs777580254 0.00005
NM_002471.4(MYH6):c.5427A>C (p.Gly1809=) rs149294569 0.00005
NM_003737.4(DCHS1):c.4608C>T (p.Val1536=) rs769958055 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_005956.4(MTHFD1):c.1128-10C>T rs377181293 0.00005
NM_006231.4(POLE):c.5253C>T (p.Ala1751=) rs765888059 0.00005
NM_014000.3(VCL):c.528C>T (p.Asp176=) rs746453891 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_024334.3(TMEM43):c.442+12G>C rs530183718 0.00005
NM_024334.3(TMEM43):c.882+17A>G rs370443570 0.00005
NM_000051.4(ATM):c.2610C>T (p.Asn870=) rs587780618 0.00004
NM_000081.4(LYST):c.9804A>G (p.Pro3268=) rs368740409 0.00004
NM_000188.3(HK1):c.1265+19A>G rs560638858 0.00004
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val) rs149366993 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.540C>T (p.Gly180=) rs371842442 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_000337.6(SGCD):c.15G>C (p.Glu5Asp) rs549319429 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_001032283.3(TMPO):c.280-8G>A rs943754313 0.00004
NM_001035.3(RYR2):c.12207T>C (p.Cys4069=) rs756280887 0.00004
NM_001042432.2(CLN3):c.516C>T (p.Leu172=) rs148846795 0.00004
NM_001267550.2(TTN):c.46489G>T (p.Val15497Phe) rs371299188 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.96390G>A (p.Thr32130=) rs200999706 0.00004
NM_001276345.2(TNNT2):c.52+13G>A rs376820377 0.00004
NM_001384732.1(CPLANE1):c.662T>C (p.Val221Ala) rs370118778 0.00004
NM_001458.5(FLNC):c.6864C>T (p.Val2288=) rs761269440 0.00004
NM_001943.5(DSG2):c.390C>T (p.Tyr130=) rs369489095 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_005097.4(LGI1):c.744G>A (p.Glu248=) rs199916185 0.00004
NM_005359.6(SMAD4):c.228A>G (p.Arg76=) rs587780556 0.00004
NM_014000.3(VCL):c.1177-14G>A rs778137720 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.5168-4G>A rs751709616 0.00004
NM_020774.4(MIB1):c.138G>A (p.Glu46=) rs376396687 0.00004
NM_033337.3(CAV3):c.201C>A (p.Val67=) rs201593267 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_000053.4(ATP7B):c.2484C>T (p.Gly828=) rs570594838 0.00003
NM_000059.4(BRCA2):c.3682A>G (p.Asn1228Asp) rs28897722 0.00003
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val) rs200909606 0.00003
NM_000335.5(SCN5A):c.2253C>T (p.Val751=) rs371649934 0.00003
NM_000371.4(TTR):c.70-9T>C rs764059061 0.00003
NM_001035.3(RYR2):c.14152-15G>A rs371785571 0.00003
NM_001110792.2(MECP2):c.968C>T (p.Thr323Met) rs61751445 0.00003
NM_001134363.3(RBM20):c.2358C>T (p.Asp786=) rs1045844360 0.00003
NM_001267550.2(TTN):c.30444G>A (p.Ser10148=) rs367901929 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_001367721.1(CASK):c.1686T>C (p.Ser562=) rs758121698 0.00003
NM_001378454.1(ALMS1):c.11283C>T (p.Val3761=) rs183916999 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.3860-15T>G rs200883903 0.00003
NM_003098.3(SNTA1):c.114C>T (p.Asp38=) rs780018849 0.00003
NM_003611.3(OFD1):c.1694T>C (p.Val565Ala) rs529916753 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_005572.4(LMNA):c.1712G>A (p.Arg571His) rs200917748 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_020297.4(ABCC9):c.1416T>C (p.Phe472=) rs777308898 0.00003
NM_024422.6(DSC2):c.870A>G (p.Pro290=) rs142653119 0.00003
NM_207361.6(FREM2):c.1250T>C (p.Leu417Pro) rs571694324 0.00003
NM_000059.4(BRCA2):c.1804G>A (p.Gly602Arg) rs80358466 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_000117.3(EMD):c.276C>T (p.Asp92=) rs782680849 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_000256.3(MYBPC3):c.2112C>T (p.Asp704=) rs547477069 0.00002
NM_000257.4(MYH7):c.354G>A (p.Ser118=) rs368925624 0.00002
NM_000257.4(MYH7):c.5736C>T (p.Ile1912=) rs200728597 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_000363.5(TNNI3):c.543C>T (p.Thr181=) rs926550445 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_001105206.3(LAMA4):c.815-13G>A rs372004668 0.00002
NM_001243133.2(NLRP3):c.2419G>A (p.Ala807Thr) rs201096167 0.00002
NM_001267550.2(TTN):c.1851A>C (p.Thr617=) rs727504530 0.00002
NM_001267550.2(TTN):c.57405A>G (p.Gln19135=) rs773605848 0.00002
NM_001267550.2(TTN):c.7331-11T>C rs1198109375 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_001458.5(FLNC):c.1976T>G (p.Leu659Arg) rs576402053 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.4059A>G (p.Thr1353=) rs780653498 0.00002
NM_003183.6(ADAM17):c.2346C>T (p.Phe782=) rs201360504 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_005477.3(HCN4):c.1818C>T (p.Ser606=) rs1247778865 0.00002
NM_007294.4(BRCA1):c.5074+6C>G rs80358032 0.00002
NM_020297.4(ABCC9):c.3331T>C (p.Leu1111=) rs764155671 0.00002
NM_030787.4(CFHR5):c.1029G>A (p.Lys343=) rs555221057 0.00002
NM_000059.4(BRCA2):c.67+4T>C rs373546450 0.00001
NM_000059.4(BRCA2):c.7977-14G>A rs879255467 0.00001
NM_000238.4(KCNH2):c.473-6C>T rs751673669 0.00001
NM_000257.4(MYH7):c.2727C>A (p.Ile909=) rs377722048 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.797-17T>C rs532401716 0.00001
NM_000257.4(MYH7):c.896-17C>T rs569428750 0.00001
NM_000285.4(PEPD):c.1125C>T (p.Asp375=) rs752440638 0.00001
NM_000335.5(SCN5A):c.5664C>T (p.Tyr1888=) rs1438433663 0.00001
NM_000443.4(ABCB4):c.1938T>C (p.Asp646=) rs553616378 0.00001
NM_001035.3(RYR2):c.4755C>T (p.Arg1585=) rs768562077 0.00001
NM_001042492.3(NF1):c.7623G>A (p.Arg2541=) rs876660737 0.00001
NM_001103.4(ACTN2):c.1256-13A>T rs778085872 0.00001
NM_001103.4(ACTN2):c.616-3C>T rs111464645 0.00001
NM_001110556.2(FLNA):c.5116G>A (p.Gly1706Ser) rs781993685 0.00001
NM_001267550.2(TTN):c.104082A>G (p.Ser34694=) rs1413571023 0.00001
NM_001267550.2(TTN):c.39128-16A>G rs769738352 0.00001
NM_001267550.2(TTN):c.55432+19G>A rs1213547538 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_001276345.2(TNNT2):c.144C>T (p.Thr48=) rs746492909 0.00001
NM_001323289.2(CDKL5):c.1613C>T (p.Thr538Met) rs1413837885 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_002230.4(JUP):c.1925-19T>G rs545000698 0.00001
NM_004958.4(MTOR):c.1500T>C (p.Asp500=) rs533405069 0.00001
NM_005159.5(ACTC1):c.617-7T>C rs750536667 0.00001
NM_005751.5(AKAP9):c.7788G>A (p.Glu2596=) rs777561134 0.00001
NM_007078.3(LDB3):c.2091C>T (p.Cys697=) rs571356142 0.00001
NM_014000.3(VCL):c.3154-6C>T rs371257509 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_020774.4(MIB1):c.1372-12T>A rs772089721 0.00001
NM_020778.5(ALPK3):c.3867C>T (p.Ser1289=) rs188837127 0.00001
NM_024334.3(TMEM43):c.1141G>A (p.Gly381Ser) rs767916602 0.00001
NM_024422.6(DSC2):c.2104T>C (p.Leu702=) rs753742489 0.00001
NM_024675.4(PALB2):c.1697G>A (p.Arg566His) rs144617793 0.00001
NM_031844.3(HNRNPU):c.2193T>C (p.Asn731=) rs372228779 0.00001
NM_144573.4(NEXN):c.66T>C (p.Tyr22=) rs749182975 0.00001
NM_170707.4(LMNA):c.1728C>T (p.Pro576=) rs767783294 0.00001
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.1380G>C (p.Thr460=) rs145333518
NM_000051.4(ATM):c.3285-9del rs1799757
NM_000051.4(ATM):c.6347+31del rs58978479
NM_000059.4(BRCA2):c.68-7dup rs276174878
NM_000059.4(BRCA2):c.8487+47C>T rs11571744
NM_000064.4(C3):c.4645C>A (p.Leu1549Met) rs149202905
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp) rs35534614
NM_000081.4(LYST):c.9785-21_9785-17del rs547173744
NM_000093.5(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_000093.5(COL5A1):c.1390-18CT[3] rs863223441
NM_000093.5(COL5A1):c.67CTG[5] (p.Leu28del) rs773994971
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
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_000218.3(KCNQ1):c.1320C>G (p.Val440=) rs781151116
NM_000249.4(MLH1):c.1039-8_1039-7insTA rs535965616
NM_000256.3(MYBPC3):c.2013C>T (p.Val671=) rs1168755518
NM_000256.3(MYBPC3):c.852-20C>A rs371941585
NM_000257.4(MYH7):c.1578+13C>T rs1178580158
NM_000257.4(MYH7):c.3770A>G (p.Asn1257Ser) rs574005462
NM_000271.5(NPC1):c.1947+10G>A rs71534236
NM_000271.5(NPC1):c.1947+8_1947+9dup rs3837910
NM_000271.5(NPC1):c.1947+8dup rs3837910
NM_000310.4(PPT1):c.627+4A>G rs572153728
NM_000334.4(SCN4A):c.483-5C>A rs191547933
NM_000335.5(SCN5A):c.327C>T (p.Asn109=) rs199473056
NM_000335.5(SCN5A):c.726C>T (p.Ala242=) rs746812420
NM_000363.5(TNNI3):c.373-4C>T rs2288530
NM_000371.4(TTR):c.337-14_337-11del rs112263266
NM_000383.4(AIRE):c.834C>G (p.Ser278Arg) rs1800520
NM_000458.4(HNF1B):c.244G>A (p.Asp82Asn)
NM_000483.5(APOC2):c.195C>A (p.Pro65=) rs145771233
NM_000489.6(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000492.3(CFTR):c.1210-12T[9] rs1805177
NM_000516.7(GNAS):c.531-13_531-10del rs576071932
NM_000528.4(MAN2B1):c.935C>A (p.Thr312Asn) rs1054487
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.706-4dup rs60794673
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=) rs45483700
NM_000702.4(ATP1A2):c.1652-7C>A rs200102433
NM_000722.4(CACNA2D1):c.3160-9del rs367960608
NM_000722.4(CACNA2D1):c.659-23CT[2] rs66474649
NM_000939.4(POMC):c.394C>G (p.Pro132Ala) rs8192606
NM_001005242.3(PKP2):c.2168-11del rs746936605
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001006658.3(CR2):c.624C>A (p.Pro208=) rs61759494
NM_001010874.5(TECRL):c.552-13dup rs577970051
NM_001035.3(RYR2):c.1293-14A>G rs752527636
NM_001035.3(RYR2):c.1395C>A (p.Pro465=) rs111990043
NM_001035.3(RYR2):c.14217del (p.Phe4739fs) rs749201569
NM_001040151.2(SCN3B):c.390G>A (p.Ala130=) rs148484744
NM_001081.4(CUBN):c.7346T>C (p.Met2449Thr) rs41301097
NM_001083962.2(TCF4):c.1299G>A (p.Leu433=) rs552340151
NM_001085377.2(MCC):c.71_72insGGCAGCAGC (p.Ser24delinsArgAlaAlaAla) rs2150439379
NM_001099922.3(ALG13):c.2380GAA[1] (p.Glu795del) rs772766102
NM_001099922.3(ALG13):c.2797CCT[14] (p.Pro945dup) rs56717389
NM_001103.4(ACTN2):c.1512A>G (p.Leu504=) rs2102934725
NM_001105206.3(LAMA4):c.2475C>G (p.Thr825=) rs189313630
NM_001105206.3(LAMA4):c.85G>C (p.Asp29His) rs150662822
NM_001110792.2(MECP2):c.1351G>A (p.Ala451Thr) rs61753973
NM_001127222.2(CACNA1A):c.3265G>T (p.Gly1089Cys) rs201311000
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_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[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.3317-20C>T rs202039414
NM_001134407.3(GRIN2A):c.422C>T (p.Thr141Met) rs78631453
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_001148.6(ANK2):c.5778G>A (p.Pro1926=) rs754030532
NM_001159699.2(FHL1):c.737-3del rs368428875
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_001165963.4(SCN1A):c.2177-11dup rs11394960
NM_001232.4(CASQ2):c.421-15C>G rs199939582
NM_001267550.2(TTN):c.100172-17dup rs397517782
NM_001267550.2(TTN):c.2775+19G>T rs199707799
NM_001267550.2(TTN):c.36949G>A (p.Ala12317Thr) rs1405466072
NM_001267550.2(TTN):c.39704C>G (p.Pro13235Arg) rs72650066
NM_001267550.2(TTN):c.40634-15_40634-11del rs375561641
NM_001267550.2(TTN):c.54812-14del rs770542364
NM_001267550.2(TTN):c.58433-16dup rs758370659
NM_001267550.2(TTN):c.58433-7del rs758370659
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.6359G>T (p.Arg2120Leu) rs141142920
NM_001267550.2(TTN):c.70560A>G (p.Pro23520=) rs759355651
NM_001267550.2(TTN):c.8902+12_8902+13del rs774238749
NM_001267550.2(TTN):c.91557T>C (p.Asp30519=) rs202185465
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro) rs55704830
NM_001267550.2(TTN):c.99830G>A (p.Gly33277Glu) rs397517781
NM_001291415.2(KDM6A):c.2859-5del rs10605935
NM_001354930.2(RIPK1):c.1935G>A (p.Thr645=) rs114183703
NM_001358263.1(HK1):c.75+23del rs111682217
NM_001364905.1(LRBA):c.1015-20dup rs753223643
NM_001365088.1(SLC12A6):c.317-5del rs747243268
NM_001365536.1(SCN9A):c.1828C>A (p.Pro610Thr) rs41268673
NM_001366385.1(CARD14):c.2919C>G (p.Asp973Glu) rs144285237
NM_001369.3(DNAH5):c.2578-9_2578-7del rs71600031
NM_001371623.1(TCOF1):c.1993G>C (p.Ala665Pro) rs2071240
NM_001375808.2(LPIN2):c.1169-7del rs746626720
NM_001378454.1(ALMS1):c.10214-12dup rs543855806
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_001379110.1(SLC9A6):c.1582-3C>T rs563279759
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.5399-17C>T rs930809365
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_001605.3(AARS1):c.1737C>T (p.Ile579=) rs144323646
NM_001643.2(APOA2):c.53-43TG[20] rs17244502
NM_001710.6(CFB):c.1524C>T (p.His508=) rs138207668
NM_001743.6(CALM2):c.285+16G>C rs3729963
NM_001814.6(CTSC):c.173-19dup rs11326739
NM_001854.4(COL11A1):c.652-6dup rs36076089
NM_001875.5(CPS1):c.3928-8del rs397703682
NM_001875.5(CPS1):c.3928-9_3928-8del rs397703682
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.735+14C>T rs2125167702
NM_001931.4(DLAT):c.381+22delT rs5794771
NM_001943.5(DSG2):c.2796T>C (p.Asn932=) rs2073307337
NM_001943.5(DSG2):c.523+23_523+24del rs77324780
NM_001961.4(EEF2):c.1011+17G>A rs190562397
NM_002087.4(GRN):c.99C>T (p.Asp33=) rs63750742
NM_002227.4(JAK1):c.414C>T (p.Tyr138=) rs35237903
NM_002230.4(JUP):c.909+6C>T rs193922705
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_002470.4(MYH3):c.1960-17dup rs3216884
NM_002470.4(MYH3):c.1960-8del rs3216884
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_002474.3(MYH11):c.1575+8del rs769321167
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_002968.3(SALL1):c.448AGC[7] (p.Ser157_Ser159del) rs113614842
NM_003042.4(SLC6A1):c.651G>A (p.Thr217=) rs6344
NM_003070.5(SMARCA2):c.669GCA[14] (p.Gln238dup) rs113070757
NM_003070.5(SMARCA2):c.669GCA[15] (p.Gln237_Gln238dup) rs113070757
NM_003200.5(TCF3):c.888C>T (p.Ala296=) rs34203855
NM_003242.6(TGFBR2):c.383del (p.Lys128fs) rs79375991
NM_003265.3(TLR3):c.1234C>T (p.Leu412Phe) rs3775291
NM_003289.4(TPM2):c.773-3dup rs35401252
NM_003413.4(ZIC3):c.135CGC[10] (p.Ala55dup) rs748325646
NM_003482.4(KMT2D):c.11202GCA[8] (p.Gln3745dup) rs398123707
NM_003482.4(KMT2D):c.3392C>T (p.Pro1131Leu) rs201623566
NM_003611.3(OFD1):c.2052C>G (p.Ser684=) rs61742891
NM_003737.4(DCHS1):c.5035+10dup rs554638348
NM_003923.3(FOXH1):c.771C>T (p.Gly257=) rs115750264
NM_004056.6(CA8):c.*36-24dup rs57677078
NM_004168.4(SDHA):c.1909-12_1909-11del rs372662724
NM_004168.4(SDHA):c.622-13del rs3835068
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.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_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_004415.4(DSP):c.1266+6G>T rs73375345
NM_004415.4(DSP):c.2436+16A>G rs199555263
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004525.3(LRP2):c.428-9_428-8del rs370823033
NM_004646.4(NPHS1):c.3418C>A (p.Arg1140Ser) rs143092783
NM_004655.4(AXIN2):c.1235A>G (p.Asn412Ser) rs115931022
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_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_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_005475.3(SH2B3):c.1236+4TGGGG[4] rs111340708
NM_005477.3(HCN4):c.785+18T>A rs1412056222
NM_005529.7(HSPG2):c.8545G>T (p.Val2849Leu) rs147114700
NM_005591.4(MRE11):c.315-14dup rs35062043
NM_005591.4(MRE11):c.315-4del rs35062043
NM_005629.4(SLC6A8):c.87G>A (p.Gly29=) rs782373793
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_006265.3(RAD21):c.815-5del rs35902828
NM_006284.4(TAF10):c.*784T>G rs769283883
NM_006440.5(TXNRD2):c.1150G>A (p.Gly384Ser) rs192869629
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_006796.3(AFG3L2):c.293-14_293-13del rs556473698
NM_006883.2(SHOX):c.-512C>A rs113313554
NM_006904.7(PRKDC):c.9337-4del rs11311765
NM_007078.3(LDB3):c.465C>T (p.Leu155=) rs45516997
NM_007078.3(LDB3):c.690-4837C>T rs528725791
NM_007118.4(TRIO):c.3948+26_3948+27dup rs57751910
NM_007187.5(WBP4):c.262+23del rs58699334
NM_007214.5(SEC63):c.1697AAG[2] (p.Glu568del) rs752018806
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007294.4(BRCA1):c.441+36_441+49del rs373413425
NM_007294.4(BRCA1):c.441+64del rs72434991
NM_007294.4(BRCA1):c.81-14C>T rs80358006
NM_012079.6(DGAT1):c.856-3C>T rs201711241
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.622+4C>T rs201020802
NM_014055.4(IFT81):c.714A>C (p.Gln238His) rs146627387
NM_014251.3(SLC25A13):c.1452+19del rs749506606
NM_014915.3(ANKRD26):c.1269+7_1269+9del rs200015812
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_015450.3(POT1):c.-153-9del rs57468586
NM_016203.4(PRKAG2):c.471C>T (p.Ser157=) rs141804012
NM_017668.3(NDE1):c.*388del rs543763112
NM_017780.4(CHD7):c.2096+21dup rs111577577
NM_018122.5(DARS2):c.228-12C>G rs9425753
NM_018979.4(WNK1):c.5542_5550del (p.Thr1848_Ser1850del) rs544395150
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.2020-6T>C rs1234670723
NM_020297.4(ABCC9):c.4450-5del rs4148680
NM_020297.4(ABCC9):c.817-18del rs199947733
NM_020774.4(MIB1):c.180C>T (p.Tyr60=) rs141633387
NM_020964.3(EPG5):c.6622-23dup rs11333207
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del) rs747975797
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs) rs2066847
NM_024009.3(GJB3):c.479G>A (p.Arg160His) rs200055020
NM_024312.5(GNPTAB):c.-62GGC[7] rs76300806
NM_024334.3(TMEM43):c.163-3del rs371706980
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del) rs377272752
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_024675.4(PALB2):c.2607C>T (p.Ser869=) rs45542234
NM_025137.4(SPG11):c.6477+13del rs574960359
NM_025137.4(SPG11):c.833A>G (p.Asn278Ser) rs75309308
NM_030665.4(RAI1):c.834GCA[9] (p.Gln288_Gln291del) rs371983878
NM_030962.4(SBF2):c.3292C>G (p.Leu1098Val) rs117957652
NM_032043.3(BRIP1):c.380-28G>A rs4988343
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_033380.3(COL4A5):c.406A>G (p.Ser136Gly) rs768580195
NM_033629.6(TREX1):c.720G>A (p.Arg240=) rs72556555
NM_053025.4(MYLK):c.4289-10dup rs41431347
NM_080425.4(GNAS):c.1394_1395insCGACTCCGGGGCGGCCCGTGACGCCCCAGCCGATCC (p.Asp466_Ala467insSerGlyAlaAlaArgAspAlaProAlaAspProAsp) rs1196950915
NM_138638.5(CFL2):c.312-7del rs35515423
NM_144596.4(TTC8):c.1464G>C (p.Ala488=) rs142073418
NM_145239.3(PRRT2):c.564G>A (p.Gln188=) rs545201760
NM_145239.3(PRRT2):c.647C>T (p.Pro216Leu) rs76335820
NM_152384.3(BBS5):c.387-15_387-12del rs756793669
NM_152564.5(VPS13B):c.1293T>G (p.Thr431=) rs77759532
NM_153026.3(PRICKLE1):c.954C>G (p.Ser318=) rs139421676
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_170707.4(LMNA):c.876G>A (p.Leu292=) rs2102883669
NM_172362.3(KCNH1):c.80-19dup rs56223346
NM_172362.3(KCNH1):c.80-6del rs56223346
NM_175875.5(SIX5):c.1773G>T (p.Thr591=) rs138916954
NM_176787.5(PIGN):c.1117-1= rs9959632
NM_182895.5(SCARF2):c.1425-35_1425-25del rs761153453
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_198060.4(NRAP):c.994-13dup rs35741231
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_213599.3(ANO5):c.2236-10del rs72105710

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