ClinVar Miner

List of variants reported as benign by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 6544
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HGVS dbSNP gnomAD frequency
NM_006514.4(SCN10A):c.5137A>G (p.Met1713Val) rs6599241 1.00000
NM_000363.5(TNNI3):c.373-10= rs7252610 0.99999
NM_004006.3(DMD):c.2645= (p.Asp882=) rs228406 0.99999
NM_001492.6(GDF1):c.326-14T>C rs4808864 0.99989
NM_053025.4(MYLK):c.1486C>G (p.Leu496Val) rs9833275 0.99852
NM_005751.5(AKAP9):c.8935C>T (p.Pro2979Ser) rs1063242 0.99690
NM_001267550.2(TTN):c.67246G>C (p.Ala22416Pro) rs4145333 0.99572
NM_000263.4(NAGLU):c.423T>C (p.Ser141=) rs659497 0.99480
NM_000517.6(HBA2):c.*107A>G rs2541640 0.99433
NM_000387.6(SLC25A20):c.536-18T>C rs6414612 0.99352
NM_000112.4(SLC26A2):c.1721T>C (p.Ile574Thr) rs30832 0.99306
NM_001458.5(FLNC):c.4404T>C (p.Asp1468=) rs2249128 0.99086
NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=) rs1126058 0.99080
NM_004304.5(ALK):c.4381A>G (p.Ile1461Val) rs1670283 0.99030
NM_000890.5(KCNJ5):c.844C>G (p.Gln282Glu) rs7102584 0.98759
NM_003923.3(FOXH1):c.*20A>G rs2721176 0.98630
NM_006790.3(MYOT):c.220= (p.Gln74=) rs6890689 0.98540
NM_032578.4(MYPN):c.2886T>C (p.Val962=) rs10733838 0.98443
NM_002234.4(KCNA5):c.1149T>C (p.Gly383=) rs2359641 0.98412
NM_001267550.2(TTN):c.23223G>A (p.Gln7741=) rs2562831 0.98238
NM_001267550.2(TTN):c.14610C>T (p.Ser4870=) rs2742348 0.98231
NM_006393.3(NEBL):c.1008+5A>G rs703089 0.98186
NM_032578.4(MYPN):c.2703+17T>C rs6480306 0.98057
NM_000059.4(BRCA2):c.4563A>G (p.Leu1521=) rs206075 0.97986
NM_000349.3(STAR):c.465+20A>G rs2720050 0.97715
NM_001164508.2(NEB):c.9124T>C (p.Cys3042Arg) rs6710212 0.97529
NM_001114122.3(CHEK1):c.1411A>G (p.Ile471Val) rs506504 0.97478
NM_006231.4(POLE):c.3582+17A>G rs5744889 0.97472
NM_001267550.2(TTN):c.9879A>G (p.Glu3293=) rs4894043 0.97302
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=) rs31304 0.96579
NM_000153.4(GALC):c.1698A>T (p.Val566=) rs421466 0.95773
NM_000393.5(COL5A2):c.1311A>G (p.Pro437=) rs2229495 0.95762
NM_000228.3(LAMB3):c.2702-12dup rs397807887 0.95488
NM_000153.4(GALC):c.1921A>G (p.Thr641Ala) rs421262 0.95462
NM_000157.4(GBA1):c.1225-34C>A rs3115534 0.94932
NM_001267550.2(TTN):c.3884C>T (p.Ser1295Leu) rs1552280 0.94745
NM_053025.4(MYLK):c.3402C>T (p.Asn1134=) rs865358 0.94358
NM_001267550.2(TTN):c.4480+6C>T rs719201 0.94227
NM_006514.4(SCN10A):c.4866T>C (p.Ser1622=) rs6599242 0.93283
NM_014244.5(ADAMTS2):c.786G>A (p.Ala262=) rs423552 0.93088
NM_000282.4(PCCA):c.914+19A>G rs4306370 0.92464
NM_053025.4(MYLK):c.1804+8C>T rs820355 0.91605
NM_000388.4(CASR):c.492+19G>A rs9869985 0.91296
NM_004655.4(AXIN2):c.1365A>G (p.Pro455=) rs9915936 0.90382
NM_005957.5(MTHFR):c.1305C>T (p.Phe435=) rs4846051 0.90165
NM_005751.5(AKAP9):c.3075C>T (p.Thr1025=) rs1989779 0.90157
NM_001927.4(DES):c.75A>G (p.Pro25=) rs1318299 0.89847
NM_016938.5(EFEMP2):c.775A>G (p.Ile259Val) rs601314 0.89787
NM_001371904.1(APOA5):c.-3G>A rs651821 0.89454
NM_022114.4(PRDM16):c.1597T>C (p.Ser533Pro) rs870124 0.89071
NM_053025.4(MYLK):c.439C>T (p.Pro147Ser) rs9840993 0.88650
NM_001184.4(ATR):c.7875G>A (p.Gln2625=) rs1802904 0.88595
NM_004304.5(ALK):c.27C>G (p.Leu9=) rs4358080 0.88526
NM_005477.3(HCN4):c.3600A>G (p.Pro1200=) rs529004 0.88237
NM_002150.3(HPD):c.97A>G (p.Thr33Ala) rs1154510 0.88222
NM_017617.5(NOTCH1):c.1669+9T>C rs3125006 0.88208
NM_001927.4(DES):c.93T>C (p.Ser31=) rs2017800 0.88201
NM_001267550.2(TTN):c.10256G>A (p.Ser3419Asn) rs2291310 0.87769
NM_005902.4(SMAD3):c.309A>G (p.Leu103=) rs1065080 0.87365
NM_001267550.2(TTN):c.9781G>A (p.Val3261Met) rs2291311 0.87338
NM_000303.3(PMM2):c.348-58_348-56dup rs1799772 0.87127
NM_001918.5(DBT):c.1150A>G (p.Ser384Gly) rs12021720 0.87100
NM_000096.4(CP):c.1632A>T (p.Glu544Asp) rs701753 0.86852
NM_080424.4(SP110):c.1274T>C (p.Leu425Ser) rs3948464 0.86768
NM_000890.5(KCNJ5):c.171T>C (p.Ser57=) rs6590357 0.84812
NM_006073.4(TRDN):c.601C>G (p.Leu201Val) rs6902416 0.84721
NM_000890.5(KCNJ5):c.834T>C (p.His278=) rs7118833 0.84299
NM_004006.3(DMD):c.9649+15T>C rs2293668 0.84201
NM_000890.5(KCNJ5):c.810T>G (p.Leu270=) rs7118824 0.84187
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265 0.84043
NM_001173990.3(TMEM216):c.432-11_432-10insA rs11382548 0.83974
NM_078470.6(COX15):c.*1126T>C rs2231687 0.83974
NM_000231.3(SGCG):c.860A>G (p.Asn287Ser) rs1800354 0.83747
NM_020778.5(ALPK3):c.3450T>C (p.Gly1150=) rs167379 0.83408
NM_000518.5(HBB):c.316-185C>T rs1609812 0.82712
NM_005956.4(MTHFD1):c.401A>G (p.Lys134Arg) rs1950902 0.82707
NM_174936.4(PCSK9):c.1503+67T>C rs563641 0.82678
NM_022132.5(MCCC2):c.1368A>G (p.Ala456=) rs10064079 0.82429
NM_000535.7(PMS2):c.780C>G (p.Ser260=) rs1805319 0.82058
NM_152594.3(SPRED1):c.291G>A (p.Lys97=) rs7182445 0.82029
NM_152594.3(SPRED1):c.424-8C>A rs7180446 0.82015
NM_152594.3(SPRED1):c.1044T>C (p.Val348=) rs3751526 0.81965
NM_012452.3(TNFRSF13B):c.81G>A (p.Thr27=) rs8072293 0.81820
NM_001283009.2(RTEL1):c.2544T>C (p.Pro848=) rs3208007 0.81548
NM_001283009.2(RTEL1):c.3126A>C (p.Gln1042His) rs3208008 0.81536
NM_001283009.2(RTEL1):c.1992T>C (p.Asp664=) rs6062302 0.81476
NM_001715.3(BLK):c.843T>C (p.Phe281=) rs2306234 0.81190
NM_144670.6(A2ML1):c.2367G>A (p.Pro789=) rs1860927 0.81108
NM_006912.6(RIT1):c.430-7C>T rs1749409 0.80479
NM_006912.6(RIT1):c.-21G>C rs493446 0.80472
NM_006767.4(LZTR1):c.1785+21A>G rs178292 0.80067
NM_001250.6(CD40):c.-1T>C rs1883832 0.79882
NM_000501.4(ELN):c.1315+17C>T rs2856728 0.79828
NM_004525.3(LRP2):c.12280A>G (p.Lys4094Glu) rs2075252 0.79497
NM_001283009.2(RTEL1):c.2274G>A (p.Ala758=) rs2236506 0.79477
NM_004304.5(ALK):c.1500A>G (p.Gln500=) rs2293564 0.79300
NM_004006.3(DMD):c.7096= (p.Lys2366=) rs1800275 0.78847
NM_020778.5(ALPK3):c.3290C>T (p.Pro1097Leu) rs306197 0.78256
NM_144670.6(A2ML1):c.3769A>G (p.Met1257Val) rs7308811 0.78244
NM_006929.5(SKIC2):c.640A>C (p.Met214Leu) rs437179 0.77931
NM_000069.3(CACNA1S):c.4113+7T>C rs6702590 0.77496
NM_001105206.3(LAMA4):c.3283-15C>T rs2032568 0.77184
NM_001142800.2(EYS):c.4256T>C (p.Leu1419Ser) rs624851 0.77065
NM_001105206.3(LAMA4):c.3349G>A (p.Gly1117Ser) rs2032567 0.77036
NM_004281.4(BAG3):c.1296A>G (p.Val432=) rs196295 0.75935
NM_001128227.3(GNE):c.51+34T>C rs7875447 0.75717
NM_013339.4(ALG6):c.911C>T (p.Ser304Phe) rs4630153 0.75355
NM_206933.4(USH2A):c.12612A>G (p.Thr4204=) rs2797235 0.74921
NM_030662.4(MAP2K2):c.919+12A>G rs350911 0.74641
NM_000890.5(KCNJ5):c.938-10G>A rs4937391 0.74403
NM_002617.4(PEX10):c.291A>G (p.Thr97=) rs2494598 0.74152
NM_001165963.4(SCN1A):c.2292T>C (p.Val764=) rs6432860 0.73885
NM_001165963.4(SCN1A):c.3199G>A (p.Ala1067Thr) rs2298771 0.73872
NM_000642.3(AGL):c.959-18G>A rs634880 0.73702
NM_004004.6(GJB2):c.*84T>C rs3751385 0.73662
NM_001077653.2(TBX20):c.39T>C (p.Ser13=) rs336283 0.73657
NM_000179.3(MSH6):c.3802-40C>G rs3136367 0.73398
NM_206933.4(USH2A):c.373G>A (p.Ala125Thr) rs10779261 0.73169
NM_000152.5(GAA):c.324T>C (p.Cys108=) rs1800300 0.71989
NM_006270.5(RRAS):c.344+13G>A rs1368464 0.71978
NM_006270.5(RRAS):c.333C>T (p.Asn111=) rs1865077 0.71974
NM_144670.6(A2ML1):c.4020A>G (p.Gln1340=) rs1476910 0.71936
NM_006767.4(LZTR1):c.994-18T>C rs112544 0.71870
NM_000214.3(JAG1):c.3417T>C (p.Tyr1139=) rs1051419 0.71278
NM_000069.3(CACNA1S):c.1828-5T>C rs1998721 0.71016
NM_002076.4(GNS):c.198G>A (p.Pro66=) rs1147096 0.70681
NM_000069.3(CACNA1S):c.1551T>C (p.Gly517=) rs4915477 0.70571
NM_006514.4(SCN10A):c.3218T>C (p.Val1073Ala) rs6795970 0.70355
NM_000380.4(XPA):c.-4A>G rs1800975 0.70140
NM_000085.5(CLCNKB):c.1732A>G (p.Lys578Glu) rs2275166 0.70089
NM_001267550.2(TTN):c.3601A>G (p.Lys1201Glu) rs10497520 0.69988
NM_006514.4(SCN10A):c.1868-9A>G rs6599250 0.69912
NM_014476.6(PDLIM3):c.906C>T (p.Val302=) rs4635850 0.69865
NM_006623.4(PHGDH):c.1326G>A (p.Thr442=) rs543703 0.69798
NM_020632.3(ATP6V0A4):c.5T>C (p.Val2Ala) rs10258719 0.69303
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn) rs6735208 0.69255
NM_001999.4(FBN2):c.7200T>C (p.Ser2400=) rs190450 0.69111
NM_002615.7(SERPINF1):c.215C>T (p.Thr72Met) rs1136287 0.69033
NM_001999.4(FBN2):c.5675-9C>T rs27713 0.68788
NM_000101.4(CYBA):c.521T>C (p.Val174Ala) rs1049254 0.68722
NM_001283009.2(RTEL1):c.958+18C>T rs41309367 0.68710
NM_016169.4(SUFU):c.1365+19T>C rs12414407 0.68248
NM_000178.4(GSS):c.275+20T>G rs734111 0.68215
NM_012082.4(ZFPM2):c.302-13C>T rs3735953 0.68152
NM_020778.5(ALPK3):c.1329G>A (p.Gly443=) rs3803406 0.68083
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile) rs154001 0.68054
NM_001164508.2(NEB):c.771T>C (p.Ala257=) rs4611637 0.68008
NM_206933.4(USH2A):c.6317T>C (p.Ile2106Thr) rs6657250 0.67783
NM_000138.5(FBN1):c.6997+17C>G rs363832 0.67656
NM_000458.4(HNF1B):c.1654-22= rs3110641 0.67606
NM_001142800.2(EYS):c.1300-3C>T rs1936439 0.67522
NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro) rs9294631 0.67363
NM_001374623.1(PNPLA1):c.1564T>C (p.Ser522Pro) rs4713956 0.66570
NM_145046.5(CALR3):c.381G>A (p.Gln127=) rs3810198 0.66498
NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr) rs2288210 0.66332
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met) rs7426114 0.66326
NM_182760.4(SUMF1):c.1116T>C (p.Thr372=) rs2633852 0.66322
NM_001165963.4(SCN1A):c.1212A>G (p.Val404=) rs7580482 0.66162
NM_001105206.3(LAMA4):c.1492T>C (p.Tyr498His) rs1050348 0.66129
NM_006231.4(POLE):c.6252A>G (p.Ser2084=) rs5745022 0.66039
NM_001244710.2(GFPT1):c.1105+7A>G rs6722492 0.65895
NM_022437.3(ABCG8):c.1412-8C>T rs28517482 0.65816
NM_145046.5(CALR3):c.972C>T (p.Tyr324=) rs9305079 0.65389
NM_000152.5(GAA):c.858+30T>C rs2304845 0.65092
NM_000101.4(CYBA):c.214T>C (p.Tyr72His) rs4673 0.64973
NM_001875.5(CPS1):c.2679C>G (p.Gly893=) rs2287599 0.64925
NM_001164508.2(NEB):c.24766-18C>T rs2288195 0.64910
NM_004628.5(XPC):c.2815C>A (p.Gln939Lys) rs2228001 0.64910
NM_001018005.2(TPM1):c.453C>A (p.Ala151=) rs1071646 0.64628
NM_006231.4(POLE):c.910-6G>C rs4077170 0.64353
NM_004628.5(XPC):c.2251-6A>C rs2279017 0.64290
NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro) rs7575451 0.64120
NM_001184.4(ATR):c.1776T>A (p.Gly592=) rs2227930 0.63717
NM_004304.5(ALK):c.2535T>C (p.Gly845=) rs2256740 0.63034
NM_000426.4(LAMA2):c.7830G>C (p.Val2610=) rs2229849 0.63028
NM_000426.4(LAMA2):c.7760C>T (p.Ala2587Val) rs2229848 0.62946
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=) rs4489420 0.62688
NM_206933.4(USH2A):c.4457G>A (p.Arg1486Lys) rs1805049 0.62414
NM_015627.3(LDLRAP1):c.654A>G (p.Thr218=) rs28969504 0.62316
NM_001164508.2(NEB):c.9363T>C (p.Pro3121=) rs6709886 0.62301
NM_003793.4(CTSF):c.219T>C (p.Gly73=) rs1127894 0.62142
NM_005188.4(CBL):c.1095+19G>T rs2510152 0.61865
NM_014625.4(NPHS2):c.954C>T (p.Ala318=) rs1410592 0.61660
NM_206933.4(USH2A):c.504A>G (p.Thr168=) rs4253963 0.61366
NM_000243.3(MEFV):c.942C>T (p.Arg314=) rs224213 0.61317
NM_024312.5(GNPTAB):c.3135+5T>C rs759935 0.60955
NM_001365088.1(SLC12A6):c.3003C>T (p.Leu1001=) rs4577050 0.60784
NM_004525.3(LRP2):c.12628A>C (p.Ile4210Leu) rs4667591 0.60691
NM_000231.3(SGCG):c.705T>C (p.Leu235=) rs1800353 0.60006
NM_006939.4(SOS2):c.2232C>T (p.Asn744=) rs2229869 0.60005
NM_000243.3(MEFV):c.1530T>C (p.Asp510=) rs224206 0.59561
NM_000370.3(TTPA):c.663+11T>C rs4501570 0.59337
NM_004070.4(CLCNKA):c.247A>G (p.Arg83Gly) rs10927887 0.59220
NM_053025.4(MYLK):c.1005C>T (p.Thr335=) rs4678047 0.59203
NM_024312.5(GNPTAB):c.1932A>G (p.Thr644=) rs10778148 0.58708
NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=) rs2229974 0.58641
NM_206933.4(USH2A):c.10232A>C (p.Glu3411Ala) rs10864198 0.58403
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro) rs2270968 0.58081
NM_052845.4(MMAB):c.716T>A (p.Met239Lys) rs9593 0.57816
NM_000243.3(MEFV):c.1422G>A (p.Glu474=) rs224208 0.57768
NM_017617.5(NOTCH1):c.1441+7C>T rs9411208 0.57467
NM_002709.3(PPP1CB):c.201A>G (p.Gln67=) rs1128416 0.57257
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala) rs1801249 0.57256
NM_000093.5(COL5A1):c.1432-5T>C rs3128612 0.57159
NM_003742.4(ABCB11):c.1331T>C (p.Val444Ala) rs2287622 0.57004
NM_006073.4(TRDN):c.484+41C>T rs12198167 0.56890
NM_000287.4(PEX6):c.1961+20G>A rs2274514 0.56870
NM_000287.4(PEX6):c.2814G>A (p.Glu938=) rs1129186 0.56758
NM_001042492.3(NF1):c.702G>A (p.Leu234=) rs1801052 0.56607
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys) rs732774 0.56484
NM_002691.4(POLD1):c.2953+12C>T rs3218776 0.55791
NM_001164508.2(NEB):c.21585A>G (p.Thr7195=) rs4664475 0.55659
NM_000251.3(MSH2):c.211+9C>G rs2303426 0.55454
NM_005908.4(MANBA):c.2368T>C (p.Leu790=) rs2272697 0.55313
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg) rs1061472 0.54674
NM_000059.4(BRCA2):c.7806-14T>C rs9534262 0.53977
NM_002769.5(PRSS1):c.738T>C (p.Asn246=) rs6667 0.53816
NM_000053.4(ATP7B):c.3903+6C>T rs2282057 0.53754
NM_006231.4(POLE):c.3156G>A (p.Thr1052=) rs5744857 0.53577
NM_006231.4(POLE):c.4530A>G (p.Ala1510=) rs5744944 0.53564
NM_001159699.2(FHL1):c.737-8C>T rs2076705 0.53498
NM_053025.4(MYLK):c.3558C>T (p.Thr1186=) rs40305 0.53400
NM_000051.4(ATM):c.6807+238G>C rs609429 0.53261
NM_000251.3(MSH2):c.1077-80G>A rs2347794 0.53152
NM_033028.5(BBS4):c.1061T>C (p.Ile354Thr) rs2277598 0.52665
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) rs7190823 0.52564
NM_001142800.2(EYS):c.1146T>C (p.Asn382=) rs974110 0.52503
NM_004655.4(AXIN2):c.1386C>T (p.Pro462=) rs1133683 0.52439
NM_006506.5(RASA2):c.2160= (p.Leu720=) rs295323 0.52396
NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu) rs1142530 0.52046
NM_005911.6(MAT2A):c.792C>G (p.Arg264=) rs1078004 0.51750
NM_000093.5(COL5A1):c.2952+11A>T rs4240707 0.51337
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359 0.51262
NM_000181.4(GUSB):c.1946T>C (p.Leu649Pro) rs9530 0.50676
NM_001142800.2(EYS):c.1809C>T (p.Val603=) rs9345601 0.50550
NM_001142800.2(EYS):c.1891G>A (p.Gly631Ser) rs9342464 0.50535
NM_206933.4(USH2A):c.6506T>C (p.Ile2169Thr) rs10864219 0.50009
NM_138694.4(PKHD1):c.7587G>A (p.Gly2529=) rs12210295 0.49949
NM_001042492.3(NF1):c.5609+19T>A rs2285894 0.49901
NM_006231.4(POLE):c.6330+15G>A rs5745023 0.49667
NM_002691.4(POLD1):c.2718-12A>G rs3219433 0.49249
NM_001174089.2(SLC4A11):c.433A>C (p.Arg145=) rs3827075 0.49054
NM_017617.5(NOTCH1):c.2588-4G>A rs3125001 0.48926
NM_000104.4(CYP1B1):c.1294= (p.Leu432=) rs1056836 0.48746
NM_000243.3(MEFV):c.306T>C (p.Asp102=) rs224225 0.48544
NM_000243.3(MEFV):c.495C>A (p.Ala165=) rs224223 0.48450
NM_019109.5(ALG1):c.1149C>T (p.Phe383=) rs1047732 0.48295
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu) rs7637099 0.48281
NM_001165963.4(SCN1A):c.1028+21T>C rs1542484 0.48206
NM_017617.5(NOTCH1):c.1555+10A>G rs11145767 0.47945
NM_015627.3(LDLRAP1):c.604T>C (p.Ser202Pro) rs6687605 0.47789
NM_001386140.1(MTTP):c.453T>C (p.Gly151=) rs991811 0.47516
NM_004304.5(ALK):c.4587C>G (p.Asp1529Glu) rs1881421 0.47503
NM_017617.5(NOTCH1):c.1670-9A>G rs3124603 0.47096
NM_144997.7(FLCN):c.1062+6C>T rs8065832 0.47076
NM_000199.5(SGSH):c.663+17T>C rs6565647 0.46516
NM_016169.4(SUFU):c.182+16C>T rs2274351 0.46492
NM_002769.5(PRSS1):c.738= (p.Asn246=) rs6667 0.46184
NM_005751.5(AKAP9):c.5163-20G>A rs9785013 0.46162
NM_000020.3(ACVRL1):c.313+11C>T rs2071218 0.45979
NM_005751.5(AKAP9):c.4004_4006dup (p.Lys1335_Leu1336insGln) rs10644111 0.45670
NM_013266.4(CTNNA3):c.292+13A>G rs3750863 0.45524
NM_001999.4(FBN2):c.6880+17G>A rs2042327 0.45423
NM_004588.5(SCN2B):c.449-12C>A rs8192613 0.45401
NM_014049.5(ACAD9):c.379A>C (p.Arg127=) rs1680778 0.45398
NM_174936.4(PCSK9):c.658-7C>T rs2483205 0.45035
NM_000553.6(WRN):c.2361G>T (p.Leu787=) rs1800392 0.44630
NM_000543.5(SMPD1):c.107T>C (p.Val36Ala) rs1050228 0.44445
NM_000264.5(PTCH1):c.2560+9G>C rs2066829 0.44128
NM_000069.3(CACNA1S):c.2403T>C (p.Phe801=) rs7415038 0.43715
NM_006231.4(POLE):c.62+15C>T rs2075784 0.43566
NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=) rs10521 0.43502
NM_015506.3(MMACHC):c.321G>A (p.Val107=) rs2275276 0.43226
NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=) rs2229971 0.42989
NM_000214.3(JAG1):c.440-15T>C rs2273060 0.42936
NM_000214.3(JAG1):c.765C>T (p.Tyr255=) rs1131695 0.42930
NM_001042492.3(NF1):c.2034G>A (p.Pro678=) rs2285892 0.42930
NM_001033855.3(DCLRE1C):c.643C>T (p.Leu215=) rs7076862 0.42876
NM_006073.4(TRDN):c.2051-19G>A rs7754205 0.42872
NM_001711.6(BGN):c.540C>T (p.Ser180=) rs1126499 0.42617
NM_006393.3(NEBL):c.1671+9T>C rs10491056 0.42572
NM_001177316.2(SLC34A3):c.757T>C (p.Leu253=) rs28407527 0.42407
NM_005751.5(AKAP9):c.10426A>C (p.Arg3476=) rs1063243 0.42386
NM_003060.4(SLC22A5):c.285T>C (p.Leu95=) rs2631365 0.42203
NM_003480.4(MFAP5):c.172+5A>G rs11046589 0.42157
NM_005751.5(AKAP9):c.8665C>T (p.Leu2889=) rs10228334 0.42044
NM_005751.5(AKAP9):c.3504A>G (p.Glu1168=) rs13245393 0.42036
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu) rs1801244 0.41941
NM_005751.5(AKAP9):c.1389G>T (p.Met463Ile) rs6964587 0.41920
NM_022437.3(ABCG8):c.64-7C>T rs4148210 0.41875
NM_000249.4(MLH1):c.1668-19A>G rs9876116 0.41821
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala) rs1801243 0.41549
NM_000243.3(MEFV):c.1764G>A (p.Pro588=) rs1231122 0.41230
NM_001692.4(ATP6V1B1):c.2T>C (p.Met1Thr) rs11681642 0.40886
NM_000512.5(GALNS):c.1431G>A (p.Glu477=) rs2303271 0.40780
NM_005751.5(AKAP9):c.6945+8C>T rs733957 0.40759
NM_201548.5(CERKL):c.156C>T (p.Phe52=) rs1473295 0.40745
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val) rs1061305 0.40617
NM_000287.3(PEX6):c.-55C>T rs9462859 0.40581
NM_000287.4(PEX6):c.399G>T (p.Val133=) rs9462858 0.40569
NM_005751.5(AKAP9):c.5778C>T (p.Gly1926=) rs10236397 0.40488
NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln) rs1129187 0.40479
NM_144997.7(FLCN):c.397-14C>T rs1736219 0.40309
NM_000251.3(MSH2):c.1661+12G>A rs3732183 0.40290
NM_003060.4(SLC22A5):c.807A>G (p.Leu269=) rs274558 0.39440
NM_003060.4(SLC22A5):c.824+13T>C rs274557 0.39418
NM_016938.5(EFEMP2):c.276C>T (p.His92=) rs633800 0.39212
NM_004655.4(AXIN2):c.148C>T (p.Pro50Ser) rs2240308 0.39067
NM_001711.6(BGN):c.141G>A (p.Ser47=) rs4833 0.37237
NM_030777.4(SLC2A10):c.1547+18T>G rs2425906 0.37194
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser) rs1805321 0.37107
NM_004006.3(DMD):c.5234G>A (p.Arg1745His) rs1801187 0.36912
NM_022437.3(ABCG8):c.-19T>G rs3806471 0.36621
NM_005591.4(MRE11):c.1225+19T>C rs641936 0.36577
NM_001077653.2(TBX20):c.545+13A>G rs17675148 0.36511
NM_000093.5(COL5A1):c.2430+20C>T rs3124932 0.36473
NM_000287.4(PEX6):c.883-3T>C rs9986447 0.36088
NM_000215.4(JAK3):c.3096+18A>G rs2302603 0.36048
NM_000548.5(TSC2):c.5202T>C (p.Asp1734=) rs1748 0.35806
NM_001267550.2(TTN):c.65682A>G (p.Thr21894=) rs4894029 0.35796
NM_001267550.2(TTN):c.61245A>G (p.Thr20415=) rs2163009 0.35615
NM_001267550.2(TTN):c.62058T>C (p.Tyr20686=) rs1560221 0.35601
NM_001267550.2(TTN):c.105384A>G (p.Ala35128=) rs3813250 0.35546
NM_001267550.2(TTN):c.83673T>C (p.Gly27891=) rs2366751 0.35531
NM_006073.4(TRDN):c.1188A>G (p.Lys396=) rs6901953 0.35392
NM_000426.4(LAMA2):c.7845G>A (p.Pro2615=) rs2229850 0.35164
NM_001267550.2(TTN):c.97795+6G>T rs3731750 0.35139
NM_006231.4(POLE):c.6657+16C>T rs5745075 0.34836
NM_000093.5(COL5A1):c.738C>T (p.Thr246=) rs3124299 0.34823
NM_001735.3(C5):c.1632C>T (p.Tyr544=) rs25681 0.34796
NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn) rs13013209 0.34676
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330 0.34583
NM_003242.6(TGFBR2):c.263+7A>G rs1155705 0.34308
NM_033453.4(ITPA):c.138G>A (p.Gln46=) rs8362 0.34252
NM_001379200.1(TBX1):c.691C>T (p.Leu231=) rs2301558 0.34251
NM_001184.4(ATR):c.5208T>C (p.Tyr1736=) rs2227931 0.34166
NM_000245.4(MET):c.4092G>A (p.Pro1364=) rs41737 0.34093
NM_000245.4(MET):c.4017G>A (p.Ala1339=) rs2023748 0.34017
NM_001128159.3(VPS53):c.1524C>T (p.Tyr508=) rs2075443 0.33961
NM_206933.4(USH2A):c.12666A>G (p.Thr4222=) rs2797234 0.33929
NM_014244.5(ADAMTS2):c.534+9G>C rs2271213 0.33886
NM_000245.4(MET):c.3858C>T (p.Asp1286=) rs41736 0.33828
NM_005751.5(AKAP9):c.9145C>T (p.Leu3049=) rs28927678 0.33792
NM_000535.7(PMS2):c.705+17A>G rs62456182 0.33782
NM_000169.3(GLA):c.1000-22C>T rs2071228 0.33579
NM_001267550.2(TTN):c.26289A>G (p.Glu8763=) rs2562838 0.33531
NM_006073.4(TRDN):c.1186+16C>T rs3813328 0.33405
NM_014244.5(ADAMTS2):c.321T>C (p.Ser107=) rs2271212 0.33047
NM_144670.6(A2ML1):c.3364C>T (p.Arg1122Trp) rs1860967 0.33038
NM_004006.3(DMD):c.8027+11C>T rs2270672 0.33026
NM_014244.5(ADAMTS2):c.733G>A (p.Val245Ile) rs398829 0.32945
NM_013266.4(CTNNA3):c.2266-10T>G rs2105702 0.32828
NM_000302.4(PLOD1):c.1206C>T (p.Asn402=) rs1130529 0.32745
NM_001267550.2(TTN):c.2244G>A (p.Glu748=) rs6715406 0.32532
NM_144670.6(A2ML1):c.1476+9G>A rs7136813 0.32464
NM_005666.4(CFHR2):c.430+20C>T rs3828032 0.32238
NM_004006.3(DMD):c.2168+13T>C rs228373 0.32216
NM_001458.5(FLNC):c.5398+16T>C rs13227216 0.32203
NM_000202.8(IDS):c.438C>T (p.Thr146=) rs1141608 0.32051
NM_000069.3(CACNA1S):c.597C>T (p.Ile199=) rs2296383 0.32034
NM_022114.4(PRDM16):c.3284+15G>T rs870171 0.31838
NM_000093.5(COL5A1):c.4176+9T>G rs10858282 0.31743
NM_024426.6(WT1):c.213G>T (p.Pro71=) rs2234582 0.31689
NM_000108.5(DLD):c.*18A>T rs8721 0.31455
NM_006939.4(SOS2):c.88-6T>C rs12888783 0.31349
NM_001164508.2(NEB):c.8734T>C (p.Ser2912Pro) rs6713162 0.31314
NM_001267550.2(TTN):c.23099-3T>C rs2562830 0.31174
NM_000199.5(SGSH):c.1367G>A (p.Arg456His) rs7503034 0.31021
NM_006514.4(SCN10A):c.884-13T>C rs7641844 0.30982
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala) rs1802683 0.30966
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=) rs1799949 0.30810
NM_004333.6(BRAF):c.1929A>G (p.Gly643=) rs9648696 0.30796
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942 0.30784
NM_000204.5(CFI):c.804G>A (p.Ser268=) rs2298749 0.30706
NM_001164508.2(NEB):c.5370G>A (p.Glu1790=) rs10170273 0.30371
NM_000548.5(TSC2):c.5161-10A>C rs1800718 0.30182
NM_012186.3(FOXE3):c.510C>T (p.Ala170=) rs34082359 0.30139
NM_000255.4(MMUT):c.1595G>A (p.Arg532His) rs1141321 0.30110
NM_201400.4(EEF2KMT):c.*733_*734dup rs59332251 0.30086
NM_001164508.2(NEB):c.6807+6T>G rs10930723 0.29833
NM_001267550.2(TTN):c.26091A>T (p.Leu8697=) rs2562836 0.29823
NM_001267550.2(TTN):c.26655C>T (p.Ser8885=) rs2562839 0.29759
NM_000093.5(COL5A1):c.1569+16A>G rs12685946 0.29746
NM_001105206.3(LAMA4):c.5160T>A (p.Val1720=) rs1050353 0.29327
NM_144670.6(A2ML1):c.3237G>A (p.Val1079=) rs11612600 0.29274
NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=) rs1060915 0.29170
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_007294.4(BRCA1):c.2311T>C (p.Leu771=) rs16940 0.29035
NM_005591.4(MRE11):c.403-6G>A rs535801 0.28996
NM_001458.5(FLNC):c.3973C>T (p.Leu1325=) rs34373805 0.28610
NM_001458.5(FLNC):c.3297A>G (p.Val1099=) rs3734973 0.28603
NM_000481.4(AMT):c.954G>A (p.Arg318=) rs11715915 0.28593
NM_000059.4(BRCA2):c.3396A>G (p.Lys1132=) rs1801406 0.28273
NM_206933.4(USH2A):c.1419C>T (p.Thr473=) rs1805050 0.28143
NM_014363.6(SACS):c.-13A>G rs17078720 0.27905
NM_000090.4(COL3A1):c.2244T>C (p.Gly748=) rs1801184 0.27758
NM_020778.5(ALPK3):c.*5C>T rs3748380 0.27385
NM_004304.5(ALK):c.3375C>A (p.Gly1125=) rs3795850 0.27292
NM_000147.5(FUCA1):c.857A>G (p.Gln286Arg) rs13551 0.27120
NM_001289808.2(CRYAB):c.324+4T>G rs11603779 0.26871
NM_024426.6(WT1):c.887+16G>A rs1799933 0.26810
NM_004304.5(ALK):c.4472A>G (p.Lys1491Arg) rs1881420 0.26767
NM_001105206.3(LAMA4):c.651C>T (p.Thr217=) rs2072021 0.26664
NM_000531.6(OTC):c.137A>G (p.Lys46Arg) rs1800321 0.26575
NM_001164508.2(NEB):c.16705-18C>T rs61254943 0.26527
NM_006767.4(LZTR1):c.210G>A (p.Lys70=) rs13054014 0.26457
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023 0.26237
NM_004628.5(XPC):c.2061G>A (p.Arg687=) rs2227998 0.26212
NM_004646.4(NPHS1):c.349G>A (p.Glu117Lys) rs3814995 0.25613
NM_000238.4(KCNH2):c.1539C>T (p.Phe513=) rs1805120 0.25427
NM_001283009.2(RTEL1):c.766-19G>A rs2297437 0.25212
NM_001105206.3(LAMA4):c.5326+6T>G rs3734289 0.24973
NM_001105206.3(LAMA4):c.5326+15A>C rs3734290 0.24942
NM_000512.5(GALNS):c.708C>T (p.His236=) rs1064315 0.24874
NM_014694.4(ADAMTSL2):c.1090G>A (p.Val364Ile) rs35767802 0.24762
NM_001164508.2(NEB):c.18294T>C (p.Tyr6098=) rs2288211 0.24726
NM_000302.4(PLOD1):c.294C>T (p.Phe98=) rs7529452 0.24445
NM_014244.5(ADAMTS2):c.2028C>T (p.Asp676=) rs1972715 0.24390
NM_001267550.2(TTN):c.67637-17T>C rs2288571 0.24363
NM_053025.4(MYLK):c.4317T>C (p.Asp1439=) rs1254392 0.24353
NM_005502.4(ABCA1):c.5927+18T>C rs2020927 0.24332
NM_000533.5(PLP1):c.609T>C (p.Asp203=) rs1126707 0.24238
NM_004304.5(ALK):c.3359+6C>T rs4622670 0.24182
NM_152419.3(HGSNAT):c.1377+20G>A rs17603428 0.24049
NM_001377540.1(SLMAP):c.1443C>T (p.Asp481=) rs17058639 0.23931
NM_152594.3(SPRED1):c.424-18G>A rs7179118 0.23890
NM_000179.3(MSH6):c.540T>C (p.Asp180=) rs1800935 0.23857
NM_006270.5(RRAS):c.454-10C>G rs731861 0.23663
NM_001267550.2(TTN):c.70830C>T (p.Ser23610=) rs12464787 0.23390
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_000249.4(MLH1):c.655A>G (p.Ile219Val) rs1799977 0.23048
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=) rs2070825 0.22980
NM_022114.4(PRDM16):c.444C>T (p.Ser148=) rs2282198 0.22946
NM_001365088.1(SLC12A6):c.475C>T (p.Leu159=) rs7164902 0.22884
NM_000284.4(PDHA1):c.1009-23T>C rs5955760 0.22827
NM_001267550.2(TTN):c.18029-19G>C rs17076 0.22460
NM_006393.3(NEBL):c.2031G>A (p.Arg677=) rs1006363 0.22278
NM_000214.3(JAG1):c.3528C>T (p.Tyr1176=) rs1051421 0.22213
NM_005902.4(SMAD3):c.-15G>A rs1061427 0.22024
NM_003640.5(ELP1):c.3214T>A (p.Cys1072Ser) rs3204145 0.21876
NM_053025.4(MYLK):c.4842T>C (p.Asn1614=) rs820463 0.21770
NM_014363.6(SACS):c.8853T>C (p.Val2951=) rs9552929 0.21755
NM_006514.4(SCN10A):c.3393C>G (p.Thr1131=) rs6771157 0.21708
NM_014244.5(ADAMTS2):c.2959-17C>T rs2303641 0.21622
NM_001034853.2(RPGR):c.29-15G>A rs6651585 0.21451
NM_001164508.2(NEB):c.11077-19T>C rs4303716 0.21438
NM_001267550.2(TTN):c.57315T>C (p.His19105=) rs35833641 0.21406
NM_004628.5(XPC):c.1496C>T (p.Ala499Val) rs2228000 0.21224
NM_024649.5(BBS1):c.378G>A (p.Leu126=) rs2298806 0.21158
NM_001142800.2(EYS):c.2024-14_2024-13insT rs142590049 0.21040
NM_000243.3(MEFV):c.605G>A (p.Arg202Gln) rs224222 0.20976
NM_000512.5(GALNS):c.634-19G>A rs12934499 0.20916
NM_000059.4(BRCA2):c.-26G>A rs1799943 0.20795
NM_004304.5(ALK):c.4165-6C>T rs17007646 0.20768
NM_000492.4(CFTR):c.1767-136T>C rs11978434 0.20764
NM_182760.4(SUMF1):c.188G>A (p.Ser63Asn) rs2819590 0.20761
NM_017636.4(TRPM4):c.-12G>A rs3760663 0.20754
NM_006514.4(SCN10A):c.4323A>G (p.Lys1441=) rs6790627 0.20722
NM_001035.3(RYR2):c.8873A>G (p.Gln2958Arg) rs34967813 0.20632
NM_005257.6(GATA6):c.1620+7A>G rs3764962 0.20625
NM_013266.4(CTNNA3):c.293-19A>T rs1909654 0.20576
NM_001384140.1(PCDH15):c.55T>G (p.Ser19Ala) rs11004439 0.20535
NM_014244.5(ADAMTS2):c.1630-18T>C rs2303638 0.20408
NM_206933.4(USH2A):c.3812-8T>G rs646094 0.20360
NM_001164508.2(NEB):c.4435G>A (p.Val1479Ile) rs34577613 0.20341
NM_014244.5(ADAMTS2):c.1238+18G>A rs2278222 0.20277
NM_014244.5(ADAMTS2):c.1194C>T (p.Asp398=) rs2278221 0.20236
NM_001142800.2(EYS):c.2024-14C>T rs45628235 0.20204
NM_006514.4(SCN10A):c.1476C>T (p.Leu492=) rs7617919 0.20158
NM_000328.3(RPGR):c.2241+11T>C rs4084271 0.20121
NM_006514.4(SCN10A):c.1284G>A (p.Glu428=) rs62244070 0.20052
NM_001377540.1(SLMAP):c.828+11C>A rs2306056 0.19942
NM_000112.4(SLC26A2):c.2065A>T (p.Thr689Ser) rs3776070 0.19906
NM_000321.3(RB1):c.2664-10T>A rs3092904 0.19833
NM_000277.3(PAH):c.735G>A (p.Val245=) rs1042503 0.19782
NM_000543.5(SMPD1):c.1522G>A (p.Gly508Arg) rs1050239 0.19762
NM_001142800.2(EYS):c.3444-5C>T rs9445051 0.19475
NM_000391.4(TPP1):c.1542A>T (p.Gly514=) rs1128396 0.19057
NM_006514.4(SCN10A):c.2937C>T (p.Gly979=) rs59468016 0.18899
NM_001164508.2(NEB):c.3901= (p.Tyr1301=) rs6711382 0.18897
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821 0.18742
NM_000055.2(BCHE):c.1699G>A (p.Ala567Thr) rs1803274 0.18493
NM_001458.5(FLNC):c.5763T>C (p.Thr1921=) rs3816884 0.18399
NM_000059.4(BRCA2):c.3807T>C (p.Val1269=) rs543304 0.18381
NM_170707.4(LMNA):c.1157+16G>A rs534807 0.18318
NM_000383.4(AIRE):c.99T>C (p.Ala33=) rs3746964 0.18036
NM_024649.5(BBS1):c.1413C>T (p.Leu471=) rs3816492 0.17957
NM_053025.4(MYLK):c.1651+6T>A rs820329 0.17955
NM_005732.4(RAD50):c.551+19G>A rs17166050 0.17902
NM_004304.5(ALK):c.3036G>A (p.Thr1012=) rs2293563 0.17851
NM_014244.5(ADAMTS2):c.2532C>T (p.Asp844=) rs2303644 0.17766
NM_001379200.1(TBX1):c.960A>G (p.Ala320=) rs41298840 0.17709
NM_001379200.1(TBX1):c.447T>C (p.Phe149=) rs41298814 0.17676
NM_014297.5(ETHE1):c.6G>A (p.Ala2=) rs3810381 0.17604
NM_173660.5(DOK7):c.1134G>A (p.Ala378=) rs6831659 0.17563
NM_001164508.2(NEB):c.3879+20G>T rs12618063 0.17493
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=) rs33988153 0.17490
NM_004415.4(DSP):c.1dup (p.Met1fs) rs17133512 0.17362
NM_032578.4(MYPN):c.1875C>T (p.Pro625=) rs2673793 0.17340
NM_001136271.3(NKX2-6):c.204T>C (p.Asp68=) rs61732911 0.17325
NM_014244.5(ADAMTS2):c.858C>T (p.His286=) rs66565583 0.17241
NM_144670.6(A2ML1):c.2909G>A (p.Cys970Tyr) rs1558526 0.17216
NM_198129.4(LAMA3):c.8445C>A (p.Asn2815Lys) rs1154232 0.17201
NM_001458.5(FLNC):c.2265+12C>G rs2291566 0.17192
NM_006073.4(TRDN):c.1370-11C>A rs9401658 0.16989
NM_002317.7(LOX):c.473G>A (p.Arg158Gln) rs1800449 0.16973
NM_206933.4(USH2A):c.5013C>A (p.Gly1671=) rs56110889 0.16907
NM_001267550.2(TTN):c.8902+14del rs573000455 0.16798
NM_000245.4(MET):c.1944A>G (p.Gln648=) rs13223756 0.16754
NM_001267550.2(TTN):c.8902+16del rs570467105 0.16737
NM_000093.5(COL5A1):c.2431-25G>A rs41310213 0.16712
NM_024426.6(WT1):c.1122A>G (p.Arg374=) rs16754 0.16617
NM_000152.5(GAA):c.642C>T (p.Ser214=) rs1800301 0.16610
NM_022437.3(ABCG8):c.1695C>T (p.Ala565=) rs4148221 0.16563
NM_000203.5(IDUA):c.1164G>C (p.Thr388=) rs6836258 0.16540
NM_001267550.2(TTN):c.98098+9T>A rs2288325 0.16490
NM_001378969.1(KCND3):c.1269+15C>A rs3738298 0.16477
NM_001267550.2(TTN):c.104988C>T (p.Val34996=) rs3829748 0.16457
NM_001267550.2(TTN):c.33834G>A (p.Glu11278=) rs35112591 0.16327
NM_001242957.3(MAK):c.156+25C>T rs2272883 0.16324
NM_145046.5(CALR3):c.702C>T (p.Asp234=) rs10403020 0.16282
NM_001267550.2(TTN):c.25274G>A (p.Ser8425Asn) rs13390491 0.16202
NM_001365088.1(SLC12A6):c.1333+20G>T rs2290941 0.16150
NM_001365088.1(SLC12A6):c.1551G>C (p.Pro517=) rs17236798 0.16144
NM_001365088.1(SLC12A6):c.1236G>A (p.Ser412=) rs2290940 0.16143
NM_000237.3(LPL):c.1164C>A (p.Thr388=) rs316 0.15994
NM_000368.5(TSC1):c.1335A>G (p.Glu445=) rs7862221 0.15974
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=) rs36074608 0.15932
NM_004006.3(DMD):c.7728T>C (p.Asn2576=) rs1801188 0.15883
NM_001458.5(FLNC):c.7221C>T (p.Asp2407=) rs3816885 0.15729
NM_004646.4(NPHS1):c.2289C>T (p.Val763=) rs437168 0.15697
NM_006514.4(SCN10A):c.3192G>A (p.Thr1064=) rs6791171 0.15667
NM_001267550.2(TTN):c.102519C>T (p.Gly34173=) rs2857265 0.15539
NM_001267550.2(TTN):c.93243C>T (p.Ala31081=) rs3731748 0.15537
NM_000532.5(PCCB):c.654+20T>C rs3821445 0.15527
NM_001458.5(FLNC):c.4431G>A (p.Leu1477=) rs2291568 0.15512
NM_006231.4(POLE):c.5707C>T (p.Leu1903=) rs5744990 0.15505
NM_000264.5(PTCH1):c.1686C>T (p.Ala562=) rs2066836 0.15395
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123 0.15387
NM_024426.6(WT1):c.345C>T (p.Pro115=) rs1799925 0.15374
NM_201596.3(CACNB2):c.*17T>C rs58830289 0.15250
NM_000543.5(SMPD1):c.636T>C (p.Asp212=) rs7951904 0.15081
NM_000531.6(OTC):c.299-8T>A rs73196229 0.15031
NM_006939.4(SOS2):c.3490-18A>C rs79858475 0.14981
NM_004655.4(AXIN2):c.1712+19G>T rs7219582 0.14767
NM_000179.3(MSH6):c.276A>G (p.Pro92=) rs1800932 0.14697
NM_016169.4(SUFU):c.1299T>C (p.Ile433=) rs17114803 0.14628
NM_006767.4(LZTR1):c.1683C>T (p.Arg561=) rs4822790 0.14494
NM_000237.3(LPL):c.*9G>A rs4922115 0.14446
NM_022114.4(PRDM16):c.2603+20C>T rs2493291 0.14355
NM_000126.4(ETFA):c.39+12C>G rs62027051 0.14273
NM_001999.4(FBN2):c.111G>A (p.Pro37=) rs55715053 0.14249
NM_000282.4(PCCA):c.627A>G (p.Ala209=) rs538229 0.14245
NM_001114753.3(ENG):c.207G>A (p.Leu69=) rs11545664 0.14184
NM_000093.5(COL5A1):c.4122G>A (p.Thr1374=) rs3827848 0.14130
NM_000393.5(COL5A2):c.852+14C>T rs56310996 0.14063
NM_024301.5(FKRP):c.135C>T (p.Ala45=) rs2287717 0.14031
NM_001999.4(FBN2):c.6511+15A>G rs56131649 0.14023
NM_006172.4(NPPA):c.123+16C>T rs5064 0.13980
NM_004655.4(AXIN2):c.1060-17C>T rs35399989 0.13976
NM_002691.4(POLD1):c.463+8G>T rs1726802 0.13898
NM_002691.4(POLD1):c.356G>A (p.Arg119His) rs1726801 0.13815
NM_001034853.2(RPGR):c.1245+16A>G rs5918522 0.13807
NM_017849.4(TMEM127):c.621G>A (p.Ala207=) rs3852673 0.13717
NM_000535.7(PMS2):c.1621= (p.Lys541=) rs2228006 0.13518
NM_000512.5(GALNS):c.244+19C>T rs35137494 0.13406
NM_000090.4(COL3A1):c.1293+15T>A rs2271679 0.13320
NM_024426.6(WT1):c.609C>T (p.Asn203=) rs2234583 0.13287
NM_001999.4(FBN2):c.8274C>T (p.Ser2758=) rs10070365 0.13267
NM_001039958.2(MESP2):c.573G>A (p.Gly191=) rs113097169 0.13255
NM_021023.6(CFHR3):c.786A>T (p.Pro262=) rs149352569 0.13118
NM_000393.5(COL5A2):c.568-10G>A rs58106884 0.13056
NM_000548.5(TSC2):c.482-3C>T rs1800720 0.12927
NM_006506.5(RASA2):c.2016T>C (p.Asn672=) rs295322 0.12892
NM_004006.3(DMD):c.837G>A (p.Thr279=) rs1800265 0.12849
NM_001184.4(ATR):c.7274G>A (p.Arg2425Gln) rs2229032 0.12815
NM_006231.4(POLE):c.4187A>G (p.Asn1396Ser) rs5744934 0.12807
NM_000179.3(MSH6):c.186C>A (p.Arg62=) rs1042820 0.12806
NM_004006.3(DMD):c.1635A>G (p.Arg545=) rs5927083 0.12751
NM_014476.6(PDLIM3):c.906-18C>T rs12644280 0.12748
NM_000264.5(PTCH1):c.1665T>C (p.Asn555=) rs1805155 0.12597
NM_145046.5(CALR3):c.397+10C>T rs3810197 0.12582
NM_000169.3(GLA):c.640-16A>G rs2071397 0.12447
NM_004281.4(BAG3):c.1220C>T (p.Pro407Leu) rs3858340 0.12393
NM_004281.4(BAG3):c.1002T>G (p.Pro334=) rs3858339 0.12375
NM_013266.4(CTNNA3):c.579+15T>G rs10997691 0.12289
NM_000215.4(JAK3):c.1701+9A>G rs3212752 0.12273
NM_002691.4(POLD1):c.810T>C (p.Ala270=) rs1143666 0.12250
NM_017617.5(NOTCH1):c.852G>A (p.Pro284=) rs2229975 0.12249
NM_005472.5(KCNE3):c.198T>C (p.Phe66=) rs2270676 0.12227
NM_001386140.1(MTTP):c.522T>C (p.Cys174=) rs982424 0.12209
NM_001458.5(FLNC):c.1032C>T (p.Val344=) rs2291562 0.12206
NM_001077365.2(POMT1):c.699+52C>T rs3887873 0.12205
NM_000535.7(PMS2):c.2007-7C>T rs55954143 0.12135
NM_000823.4(GHRHR):c.169G>A (p.Ala57Thr) rs4988496 0.12048
NM_012082.4(ZFPM2):c.3207C>T (p.His1069=) rs11995760 0.11999
NM_012082.4(ZFPM2):c.1362A>G (p.Pro454=) rs920628 0.11991
NM_001458.5(FLNC):c.1458C>A (p.Pro486=) rs2291563 0.11830
NM_001034853.2(RPGR):c.1164G>A (p.Ala388=) rs1801686 0.11812
NM_017617.5(NOTCH1):c.2740+12C>T rs36119806 0.11457
NM_000535.7(PMS2):c.2466T>C (p.Leu822=) rs10000 0.11447
NM_003002.4(SDHD):c.204C>T (p.Ser68=) rs9919552 0.11428
NM_002691.4(POLD1):c.3218+10A>G rs2463239 0.11362
NM_000228.3(LAMB3):c.2554A>T (p.Met852Leu) rs12748250 0.11215
NM_015166.4(MLC1):c.594C>T (p.Tyr198=) rs6010165 0.11145
NM_004655.4(AXIN2):c.2062C>T (p.Leu688=) rs35415678 0.11118
NM_001999.4(FBN2):c.6931A>G (p.Met2311Val) rs32209 0.11103
NM_001458.5(FLNC):c.720T>C (p.Ile240=) rs2291560 0.11080
NM_006361.6(HOXB13):c.513T>C (p.Ser171=) rs9900627 0.11073
NM_001458.5(FLNC):c.795T>C (p.Gly265=) rs2291561 0.10971
NM_003073.5(SMARCB1):c.897G>A (p.Ser299=) rs2229354 0.10948
NM_005502.4(ABCA1):c.814-14dup rs2067484 0.10846
NM_004304.5(ALK):c.4338C>T (p.Thr1446=) rs56132472 0.10831
NM_144670.6(A2ML1):c.3843T>C (p.Val1281=) rs61749073 0.10820
NM_000093.5(COL5A1):c.3745-18G>A rs45556931 0.10766
NM_012434.5(SLC17A5):c.246G>A (p.Ala82=) rs472294 0.10691
NM_000053.4(ATP7B):c.2866-13G>C rs7325983 0.10642
NM_001386140.1(MTTP):c.969T>C (p.Ala323=) rs17533489 0.10642
NM_002691.4(POLD1):c.2244T>C (p.Ser748=) rs1274607 0.10634
NM_000214.3(JAG1):c.588C>T (p.Cys196=) rs1801138 0.10620
NM_001999.4(FBN2):c.183C>G (p.Pro61=) rs73348287 0.10581
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385 0.10476
NM_000181.4(GUSB):c.1740C>T (p.Tyr580=) rs1061361 0.10447
NM_033380.3(COL4A5):c.1095G>C (p.Gly365=) rs2272945 0.10302
NM_001371904.1(APOA5):c.132C>A (p.Ile44=) rs12287066 0.10299
NM_001164508.2(NEB):c.2944-9G>A rs13427102 0.10205
NM_001365088.1(SLC12A6):c.1825-13C>T rs74010036 0.10170
NM_033380.3(COL4A5):c.4293C>T (p.Asp1431=) rs61746140 0.10149
NM_000512.5(GALNS):c.199C>A (p.Leu67Met) rs11862754 0.10099
NM_000215.4(JAK3):c.1915-30C>T rs2072496 0.10048
NM_001267550.2(TTN):c.9597A>G (p.Glu3199=) rs2291312 0.09947
NM_001379200.1(TBX1):c.1086A>G (p.Ala362=) rs13054377 0.09863
NM_001267550.2(TTN):c.68217T>C (p.His22739=) rs10497517 0.09829
NM_005502.4(ABCA1):c.-18G>C rs1800978 0.09771
NM_002691.4(POLD1):c.1485C>T (p.Thr495=) rs2230245 0.09769
NM_001875.5(CPS1):c.2193-15G>T rs2287600 0.09707
NM_001164508.2(NEB):c.6184-14T>A rs10173335 0.09664
NM_024312.5(GNPTAB):c.18G>A (p.Leu6=) rs4764655 0.09551
NM_174936.4(PCSK9):c.-64C>T rs45448095 0.09487
NM_001999.4(FBN2):c.5823T>C (p.His1941=) rs11955288 0.09446
NM_001368809.2(AMPD2):c.91+180C>G rs186745159 0.09427
NM_000237.3(LPL):c.1428-11C>T rs11570891 0.09356
NM_001034853.2(RPGR):c.1572+11A>G rs62635008 0.09352
NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg) rs35441642 0.09351
NM_002691.4(POLD1):c.3121-19C>T rs3212330 0.09350
NM_033118.4(MYLK2):c.1710+15A>G rs6060980 0.09349
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=) rs10197596 0.09320
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525 0.09281
NM_001458.5(FLNC):c.147C>T (p.His49=) rs3734972 0.09267
NM_001267550.2(TTN):c.7545C>T (p.Tyr2515=) rs2291306 0.09235
NM_001267550.2(TTN):c.75522A>C (p.Ala25174=) rs6732060 0.09129
NM_000251.3(MSH2):c.1511-9A>T rs12998837 0.09123
NM_001384140.1(PCDH15):c.92-13796_92-13795insC rs144361159 0.08987
NM_001370658.1(BTD):c.1353T>C (p.Cys451=) rs3817641 0.08986
NM_001267550.2(TTN):c.24516C>T (p.Thr8172=) rs72648978 0.08958
NM_000237.3(LPL):c.1421C>G (p.Ser474Ter) rs328 0.08934
NM_006393.3(NEBL):c.2997A>G (p.Thr999=) rs2296614 0.08806
NM_000512.5(GALNS):c.634-20C>T rs17603837 0.08794
NM_001458.5(FLNC):c.4056C>T (p.Arg1352=) rs75770585 0.08775
NM_001105206.3(LAMA4):c.1710T>C (p.Ser570=) rs3752577 0.08618
NM_001040151.2(SCN3B):c.438C>T (p.Thr146=) rs1275085 0.08505
NM_006258.4(PRKG1):c.479-9C>T rs45615337 0.08494
NM_004655.4(AXIN2):c.956+16A>G rs35285779 0.08430
NM_198129.4(LAMA3):c.5322C>T (p.Phe1774=) rs958631 0.08419
NM_000214.3(JAG1):c.2214A>C (p.Thr738=) rs1801140 0.08364
NM_001378969.1(KCND3):c.264C>T (p.Pro88=) rs17221819 0.08351
NM_000251.3(MSH2):c.2006-6T>C rs2303428 0.08349
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08329
NM_001164508.2(NEB):c.10707G>A (p.Lys3569=) rs6717213 0.08304
NM_000214.3(JAG1):c.267G>A (p.Gly89=) rs1051415 0.08298
NM_001267550.2(TTN):c.96158T>C (p.Ile32053Thr) rs62621236 0.08189
NM_174936.4(PCSK9):c.524-11G>A rs11800231 0.08151
NM_000196.4(HSD11B2):c.588G>A (p.Ala196=) rs5480 0.08122
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=) rs61741041 0.08115
NM_000344.4(SMN1):c.*3+80T>G rs143838139 0.08111
NM_000093.5(COL5A1):c.1092C>T (p.Pro364=) rs41306391 0.08110
NM_016492.5(RANGRF):c.437+16C>T rs869773 0.08087
NM_001458.5(FLNC):c.850+18G>A rs55907818 0.08058
NM_000548.5(TSC2):c.2580T>C (p.Phe860=) rs13337626 0.08017
NM_000214.3(JAG1):c.2382C>T (p.Ser794=) rs56225585 0.07991
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254 0.07931
NM_000709.4(BCKDHA):c.116C>A (p.Pro39His) rs11549936 0.07892
NM_000093.5(COL5A1):c.1569+15C>T rs62574081 0.07860
NM_000218.3(KCNQ1):c.1590+14T>C rs11024034 0.07860
NM_005477.3(HCN4):c.1558C>T (p.Leu520=) rs12909882 0.07848
NM_001267550.2(TTN):c.106275G>C (p.Gly35425=) rs56207956 0.07828
NM_001105206.3(LAMA4):c.1357+4G>T rs6917763 0.07821
NM_001267550.2(TTN):c.25921+10C>T rs10183237 0.07769
NM_001999.4(FBN2):c.4718-13T>C rs10044959 0.07765
NM_006231.4(POLE):c.755C>T (p.Ala252Val) rs5744751 0.07688
NM_001351132.2(PEX5):c.551+71C>T rs73050080 0.07647
NM_000137.4(FAH):c.267G>C (p.Leu89=) rs33929922 0.07529
NM_017636.4(TRPM4):c.2380C>T (p.Leu794=) rs3745301 0.07523
NM_000138.5(FBN1):c.5066-35C>T rs77105137 0.07470
NM_000179.3(MSH6):c.642C>T (p.Tyr214=) rs1800937 0.07457
NM_003060.4(SLC22A5):c.-77G>A rs13180295 0.07424
NM_003060.4(SLC22A5):c.-78C>T rs13180043 0.07424
NM_001164508.2(NEB):c.25150+12G>A rs4414676 0.07283
NM_000264.5(PTCH1):c.1504-8T>C rs2277184 0.07277
NM_002474.3(MYH11):c.2208C>T (p.Ile736=) rs12931799 0.07252
NM_000823.4(GHRHR):c.363G>T (p.Glu121Asp) rs4988498 0.07235
NM_000245.4(MET):c.534C>T (p.Ser178=) rs35775721 0.07211
NM_152564.5(VPS13B):c.6963A>G (p.Val2321=) rs61753724 0.07191
NM_001267550.2(TTN):c.42783A>G (p.Lys14261=) rs16866425 0.07162
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074 0.07150
NM_006231.4(POLE):c.2469-15G>A rs5744833 0.07057
NM_144997.7(FLCN):c.397-13G>A rs3744123 0.07012
NM_001999.4(FBN2):c.7739C>T (p.Ser2580Leu) rs2291628 0.07011
NM_000156.6(GAMT):c.626C>T (p.Thr209Met) rs17851582 0.07010
NM_000527.5(LDLR):c.1617C>T (p.Pro539=) rs5929 0.07003
NM_001999.4(FBN2):c.7013-5T>C rs28763927 0.06995
NM_000383.4(AIRE):c.538+42del rs3214074 0.06978
NM_000214.3(JAG1):c.744A>G (p.Pro248=) rs10485741 0.06947
NM_003480.4(MFAP5):c.59-4A>T rs12833793 0.06923
NM_022437.3(ABCG8):c.453G>A (p.Val151=) rs56132765 0.06877
NM_001105206.3(LAMA4):c.4716C>T (p.Leu1572=) rs35679345 0.06874
NM_006514.4(SCN10A):c.3088-20T>C rs11129804 0.06869
NM_001458.5(FLNC):c.3624G>A (p.Ala1208=) rs35281128 0.06868
NM_000135.4(FANCA):c.1143G>T (p.Thr381=) rs1800331 0.06866
NM_020778.5(ALPK3):c.3711C>T (p.Asp1237=) rs35931910 0.06807
NM_000521.4(HEXB):c.772-4A>G rs17561000 0.06806
NM_004004.6(GJB2):c.*111C>T rs7329857 0.06802
NM_000891.3(KCNJ2):c.660C>T (p.Ser220=) rs7221086 0.06793
NM_001114753.3(ENG):c.1029C>T (p.Thr343=) rs3739817 0.06792
NM_014000.3(VCL):c.768T>C (p.Asp256=) rs56413529 0.06776
NM_014000.3(VCL):c.339G>A (p.Arg113=) rs56314318 0.06767
NM_004484.4(GPC3):c.1500T>C (p.Asp500=) rs2314298 0.06746
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06742
NM_000393.5(COL5A2):c.315= (p.Thr105=) rs4128539 0.06734
NM_144670.6(A2ML1):c.1275A>G (p.Val425=) rs7308106 0.06706
NM_001267550.2(TTN):c.29763T>C (p.Ile9921=) rs2742343 0.06625
NM_006506.5(RASA2):c.2519+10T>G rs295324 0.06624
NM_000170.3(GLDC):c.438G>A (p.Thr146=) rs13289273 0.06458
NM_000890.5(KCNJ5):c.937+7C>T rs45516097 0.06448
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_017617.5(NOTCH1):c.5639-12C>T rs11574908 0.06332
NM_030777.4(SLC2A10):c.1541A>G (p.Lys514Arg) rs41283344 0.06229
NM_053025.4(MYLK):c.3253A>G (p.Thr1085Ala) rs75370906 0.06202
NM_000371.4(TTR):c.337-18G>C rs36204272 0.06198
NM_001002294.3(FMO3):c.769G>A (p.Val257Met) rs1736557 0.06174
NM_000287.4(PEX6):c.2364G>A (p.Val788=) rs2274515 0.06152
NM_001927.4(DES):c.578+11G>A rs111548596 0.06130
NM_000093.5(COL5A1):c.1431G>A (p.Ala477=) rs61729545 0.06122
NM_001035.3(RYR2):c.5656G>A (p.Gly1886Ser) rs3766871 0.06110
NM_001378454.1(ALMS1):c.3894A>G (p.Gln1298=) rs112034360 0.06109
NM_000137.4(FAH):c.1056C>T (p.Ser352=) rs1801374 0.06041
NM_001267550.2(TTN):c.71993G>A (p.Arg23998His) rs10164753 0.06031
NM_001267550.2(TTN):c.29042-16G>A rs10203085 0.05999
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg) rs3730238 0.05965
NM_032588.4(TRIM63):c.267G>T (p.Val89=) rs35123100 0.05922
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681 0.05868
NM_005502.4(ABCA1):c.1195-13C>T rs2297399 0.05862
NM_001267550.2(TTN):c.22080T>C (p.Asp7360=) rs16866473 0.05854
NM_017636.4(TRPM4):c.375G>A (p.Ser125=) rs34333830 0.05846
NM_000237.3(LPL):c.435G>A (p.Glu145=) rs248 0.05843
NM_006493.4(CLN5):c.173+18C>T rs112141862 0.05807
NM_012082.4(ZFPM2):c.1776T>C (p.Pro592=) rs16873732 0.05790
NM_001267550.2(TTN):c.79062T>A (p.Gly26354=) rs3731744 0.05786
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850 0.05782
NM_012082.4(ZFPM2):c.2976T>C (p.Tyr992=) rs1442320 0.05781
NM_004484.4(GPC3):c.1626A>G (p.Ala542=) rs61754631 0.05751
NM_001035.3(RYR2):c.1611G>A (p.Leu537=) rs78281932 0.05734
NM_020778.5(ALPK3):c.3954G>A (p.Glu1318=) rs34122391 0.05659
NM_000302.4(PLOD1):c.1632A>C (p.Ala544=) rs2230898 0.05658
NM_006231.4(POLE):c.4444+4T>A rs5744941 0.05640
NM_001267550.2(TTN):c.105582C>T (p.Ser35194=) rs3829749 0.05620
NM_017636.4(TRPM4):c.2210+11C>G rs1175796 0.05613
NM_000245.4(MET):c.1131C>T (p.Ile377=) rs28444388 0.05590
NM_001267550.2(TTN):c.15792T>C (p.Ile5264=) rs12993099 0.05590
NM_000249.4(MLH1):c.1558+14G>A rs41562513 0.05554
NM_013266.4(CTNNA3):c.460-13T>C rs7903421 0.05538
NM_014391.3(ANKRD1):c.346-19T>A rs10881854 0.05519
NM_001110556.2(FLNA):c.6642G>C (p.Val2214=) rs1064822 0.05512
NM_003172.4(SURF1):c.573C>G (p.Thr191=) rs28715079 0.05492
NM_001371904.1(APOA5):c.457G>A (p.Val153Met) rs3135507 0.05465
NM_012434.5(SLC17A5):c.606A>G (p.Ser202=) rs3757112 0.05389
NM_004006.3(DMD):c.4234-13A>G rs41303181 0.05327
NM_170707.4(LMNA):c.810+13G>T rs11264444 0.05317
NM_002834.5(PTPN11):c.854-21C>T rs41279090 0.05308
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497 0.05303
NM_000070.3(CAPN3):c.606T>C (p.Ser202=) rs17593 0.05293
NM_004937.3(CTNS):c.462T>C (p.Ser154=) rs77453839 0.05257
NM_000088.4(COL1A1):c.642+25T>C rs73987448 0.05218
NM_005732.4(RAD50):c.3846T>C (p.Tyr1282=) rs1804670 0.05209
NM_000512.5(GALNS):c.1177G>T (p.Ala393Ser) rs2303269 0.05170
NM_001458.5(FLNC):c.*1A>G rs114713626 0.05145
NM_006258.4(PRKG1):c.1008T>C (p.Phe336=) rs56047641 0.05131
NM_001267550.2(TTN):c.3087T>C (p.Tyr1029=) rs55863869 0.05117
NM_001267550.2(TTN):c.29799G>A (p.Ser9933=) rs2742344 0.05063
NM_000383.4(AIRE):c.1203T>C (p.Pro401=) rs61737072 0.05045
NM_001267550.2(TTN):c.8919C>G (p.Ser2973=) rs4894045 0.05021
NM_001018005.2(TPM1):c.486T>C (p.Tyr162=) rs11558747 0.05001
NM_001999.4(FBN2):c.5675-9del rs112666443 0.05000
NM_003172.4(SURF1):c.280T>C (p.Leu94=) rs28615629 0.04975
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_000237.3(LPL):c.405G>A (p.Val135=) rs1121923 0.04960
NM_015506.3(MMACHC):c.811A>G (p.Ser271Gly) rs35219601 0.04960
NM_001386140.1(MTTP):c.285G>C (p.Gln95His) rs61733139 0.04959
NM_012082.4(ZFPM2):c.2385C>G (p.Val795=) rs35998713 0.04956
NM_005502.4(ABCA1):c.6401+13A>G rs2066881 0.04938
NM_001164508.2(NEB):c.5971C>T (p.His1991Tyr) rs75807392 0.04908
NM_000823.4(GHRHR):c.366+13T>G rs4988499 0.04905
NM_005477.3(HCN4):c.2556G>A (p.Pro852=) rs117819825 0.04888
NM_014244.5(ADAMTS2):c.2291-8A>G rs140401199 0.04871
NM_000321.3(RB1):c.1390-14A>T rs9535023 0.04866
NM_022114.4(PRDM16):c.677-16G>A rs192554855 0.04854
NM_000053.4(ATP7B):c.2973G>A (p.Thr991=) rs1801246 0.04852
NM_000548.5(TSC2):c.1578C>T (p.Ser526=) rs34012042 0.04830
NM_000393.5(COL5A2):c.403-42A>G rs73051214 0.04827
NM_144670.6(A2ML1):c.186C>T (p.Thr62=) rs17792974 0.04826
NM_001267550.2(TTN):c.3759A>G (p.Arg1253=) rs2291308 0.04799
NM_000823.4(GHRHR):c.564C>T (p.His188=) rs740336 0.04789
NM_004006.3(DMD):c.8810= (p.Arg2937=) rs1800280 0.04757
NM_030662.4(MAP2K2):c.450+15G>T rs10424545 0.04749
NM_001918.5(DBT):c.1210-10T>A rs183058253 0.04736
NM_000487.6(ARSA):c.1493G>A (p.Arg498His) rs6151428 0.04709
NM_001366110.1(PAX4):c.474C>T (p.Gly158=) rs77039439 0.04703
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_024426.6(WT1):c.1074A>G (p.Gln358=) rs2234590 0.04693
NM_022437.3(ABCG8):c.675G>A (p.Val225=) rs9282575 0.04664
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405 0.04656
NM_013266.4(CTNNA3):c.1872C>A (p.Val624=) rs10997034 0.04630
NM_000155.4(GALT):c.378-27G>C rs41274865 0.04615
NM_000155.4(GALT):c.508-24G>A rs41274867 0.04612
NM_022124.6(CDH23):c.3625A>G (p.Thr1209Ala) rs41281314 0.04612
NM_053025.4(MYLK):c.3027G>A (p.Glu1009=) rs12172926 0.04612
NM_005534.4(IFNGR2):c.173C>G (p.Thr58Arg) rs4986958 0.04587
NM_004821.3(HAND1):c.468T>G (p.Ser156=) rs34402828 0.04584
NM_001267550.2(TTN):c.88272G>A (p.Glu29424=) rs9808036 0.04549
NM_000302.4(PLOD1):c.2124T>C (p.His708=) rs879690 0.04545
NM_002691.4(POLD1):c.1548C>T (p.Ala516=) rs2230247 0.04514
NM_002691.4(POLD1):c.1539G>A (p.Leu513=) rs2230246 0.04513
NM_001999.4(FBN2):c.6292+12C>A rs10042349 0.04495
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968 0.04425
NM_004821.3(HAND1):c.531G>C (p.Arg177=) rs34198899 0.04411
NM_001267550.2(TTN):c.26200+19A>T rs2562837 0.04396
NM_001267550.2(TTN):c.28662G>A (p.Arg9554=) rs2742332 0.04384
NM_005343.4(HRAS):c.111+15G>A rs41258054 0.04363
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944 0.04357
NM_000093.5(COL5A1):c.2745+15A>T rs79481146 0.04340
NM_022114.4(PRDM16):c.2502C>T (p.Gly834=) rs115226069 0.04338
NM_181486.4(TBX5):c.309C>T (p.Leu103=) rs28730763 0.04319
NM_000391.4(TPP1):c.441A>G (p.Glu147=) rs2555170 0.04313
NM_017636.4(TRPM4):c.1151-20T>A rs11668638 0.04248
NM_000302.4(PLOD1):c.644-17T>G rs41307745 0.04239
NM_032578.4(MYPN):c.2163C>A (p.Ala721=) rs71584491 0.04239
NM_004655.4(AXIN2):c.432T>C (p.Ile144=) rs2240307 0.04207
NM_030662.4(MAP2K2):c.528+20A>G rs73918030 0.04206
NM_000020.3(ACVRL1):c.747G>A (p.Val249=) rs1058563 0.04166
NM_001110556.2(FLNA):c.374-19G>A rs2070817 0.04163
NM_000466.3(PEX1):c.358-11G>C rs113104510 0.04153
NM_000022.4(ADA):c.390G>A (p.Val130=) rs61737144 0.04145
NM_000282.4(PCCA):c.1423A>G (p.Ile475Val) rs35719359 0.04130
NM_206933.4(USH2A):c.6587G>C (p.Ser2196Thr) rs79444516 0.04057
NM_000053.4(ATP7B):c.3009G>A (p.Ala1003=) rs1801247 0.04023
NM_004628.5(XPC):c.1475G>A (p.Arg492His) rs2227999 0.03986
NM_001267550.2(TTN):c.98912G>A (p.Arg32971His) rs4894028 0.03961
NM_001386140.1(MTTP):c.1769+14C>T rs41275713 0.03960
NM_002471.4(MYH6):c.4960-17A>T rs28730764 0.03950
NM_012186.3(FOXE3):c.-14G>A rs181190356 0.03946
NM_001267550.2(TTN):c.49731T>C (p.His16577=) rs2115558 0.03943
NM_000156.6(GAMT):c.571-6G>A rs2074899 0.03927
NM_014244.5(ADAMTS2):c.2730A>G (p.Pro910=) rs6869261 0.03924
NM_000228.3(LAMB3):c.3448C>T (p.Leu1150=) rs2228342 0.03922
NM_000393.5(COL5A2):c.3411= (p.Gly1137=) rs6434312 0.03908
NM_013266.4(CTNNA3):c.1531+16T>C rs78806593 0.03870
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_144670.6(A2ML1):c.2868C>T (p.Ala956=) rs56179521 0.03852
NM_001165963.4(SCN1A):c.3723T>C (p.Tyr1241=) rs36031496 0.03789
NM_000264.5(PTCH1):c.3141T>G (p.Leu1047=) rs2066835 0.03773
NM_022437.3(ABCG8):c.-15A>C rs72647315 0.03755
NM_004646.4(NPHS1):c.2971G>C (p.Val991Leu) rs34736717 0.03743
NM_000512.5(GALNS):c.846C>T (p.Phe282=) rs35232749 0.03726
NM_000059.4(BRCA2):c.2229T>C (p.His743=) rs1801499 0.03698
NM_000512.5(GALNS):c.510T>C (p.Tyr170=) rs3743544 0.03694
NM_000059.4(BRCA2):c.865A>C (p.Asn289His) rs766173 0.03693
NM_000059.4(BRCA2):c.1365A>G (p.Ser455=) rs1801439 0.03688
NM_000543.5(SMPD1):c.714A>G (p.Ala238=) rs2682091 0.03664
NM_006493.4(CLN5):c.173+8C>T rs9565308 0.03653
NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=) rs2228559 0.03652
NM_005751.5(AKAP9):c.4199T>C (p.Met1400Thr) rs73407505 0.03644
NM_194248.3(OTOF):c.2401G>T (p.Glu801Ter) rs75624587 0.03607
NM_053025.4(MYLK):c.411C>G (p.Ser137=) rs55760507 0.03602
NM_002471.4(MYH6):c.999C>T (p.Thr333=) rs78107039 0.03596
NM_002474.3(MYH11):c.5172-14C>T rs34839877 0.03595
NM_002691.4(POLD1):c.1860G>A (p.Thr620=) rs1726790 0.03590
NM_002691.4(POLD1):c.234C>G (p.Arg78=) rs2228665 0.03571
NM_001267550.2(TTN):c.48996G>A (p.Glu16332=) rs72677244 0.03561
NM_000512.5(GALNS):c.1376C>T (p.Ala459Val) rs114703967 0.03559
NM_144997.7(FLCN):c.1233G>A (p.Glu411=) rs61750032 0.03557
NM_144670.6(A2ML1):c.3676_3677del (p.Ala1226fs) rs144686314 0.03504
NM_001032283.3(TMPO):c.565+1369C>G rs35969221 0.03471
NM_001103.4(ACTN2):c.2139G>A (p.Thr713=) rs34975493 0.03463
NM_001711.6(BGN):c.564C>T (p.Ile188=) rs2070933 0.03463
NM_003924.4(PHOX2B):c.762A>C (p.Ala254=) rs17884724 0.03446
NM_002617.4(PEX10):c.*11G>A rs3795270 0.03427
NM_144670.6(A2ML1):c.2550= (p.Asp850=) rs1860926 0.03420
NM_001458.5(FLNC):c.3838C>T (p.Leu1280=) rs34180031 0.03419
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) rs35874463 0.03414
NM_001105206.3(LAMA4):c.1190-8C>G rs73538515 0.03405
NM_000245.4(MET):c.144G>A (p.Ala48=) rs11762213 0.03399
NM_005188.4(CBL):c.2592C>T (p.Leu864=) rs1893177 0.03391
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636 0.03364
NM_004937.3(CTNS):c.970+15G>A rs76153698 0.03340
NM_000155.4(GALT):c.945T>C (p.His315=) rs61735982 0.03311
NM_053025.4(MYLK):c.3652+11G>A rs41271437 0.03294
NM_015627.3(LDLRAP1):c.712C>T (p.Arg238Trp) rs41291058 0.03285
NM_006073.4(TRDN):c.1105+5G>A rs41284430 0.03253
NM_001875.5(CPS1):c.4275-10A>G rs41272673 0.03250
NM_003924.4(PHOX2B):c.870C>A (p.Pro290=) rs17885864 0.03243
NM_017636.4(TRPM4):c.1041G>T (p.Leu347=) rs61732831 0.03220
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756 0.03206
NM_001267550.2(TTN):c.65575+19T>G rs72646865 0.03204
NM_138694.4(PKHD1):c.5896C>T (p.Leu1966=) rs1266923 0.03202
NM_000093.5(COL5A1):c.2892C>T (p.Gly964=) rs78511105 0.03168
NM_002691.4(POLD1):c.518G>A (p.Ser173Asn) rs1726803 0.03166
NM_000143.4(FH):c.1302C>T (p.Cys434=) rs2070080 0.03163
NM_014476.6(PDLIM3):c.678G>A (p.Ser226=) rs34943562 0.03158
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03116
NM_001377540.1(SLMAP):c.1300+14A>G rs111294347 0.03108
NM_001164508.2(NEB):c.21963A>G (p.Lys7321=) rs61730765 0.03096
NM_006767.4(LZTR1):c.1962C>T (p.Asp654=) rs1131176 0.03087
NM_000295.5(SERPINA1):c.424C>T (p.Leu142=) rs20546 0.03085
NM_053025.4(MYLK):c.4620-12G>A rs41301337 0.03066
NM_005751.5(AKAP9):c.3318+13C>A rs73403768 0.03055
NM_017636.4(TRPM4):c.2982G>A (p.Ser994=) rs1175810 0.03027
NM_004415.4(DSP):c.423-16_423-15insC rs113028223 0.03015
NM_001164508.2(NEB):c.19102-6C>T rs145127681 0.03008
NM_001458.5(FLNC):c.1614C>T (p.Tyr538=) rs76046880 0.02993
NM_024312.5(GNPTAB):c.3602+8C>A rs79493678 0.02992
NM_000719.7(CACNA1C):c.372-15G>A rs55792866 0.02977
NM_004006.3(DMD):c.8734A>G (p.Asn2912Asp) rs1800278 0.02976
NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=) rs2228047 0.02974
NM_032588.4(TRIM63):c.12G>A (p.Lys4=) rs3795690 0.02971
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247 0.02918
NM_001267550.2(TTN):c.20861C>T (p.Ala6954Val) rs17355446 0.02915
NM_144997.7(FLCN):c.726A>T (p.Thr242=) rs113938514 0.02907
NM_001148.6(ANK2):c.3510A>G (p.Val1170=) rs35336373 0.02906
NM_003060.4(SLC22A5):c.393+17G>A rs11568522 0.02888
NM_001267550.2(TTN):c.32393-12A>G rs16866434 0.02884
NM_000143.4(FH):c.309C>T (p.Ala103=) rs10926501 0.02876
NM_001927.4(DES):c.669T>C (p.Ile223=) rs75882680 0.02876
NM_004006.3(DMD):c.8729A>T (p.Glu2910Val) rs41305353 0.02876
NM_144670.6(A2ML1):c.463-9C>G rs11047493 0.02873
NM_017617.5(NOTCH1):c.7233A>G (p.Pro2411=) rs11574911 0.02871
NM_000277.3(PAH):c.707-7A>T rs62508624 0.02868
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328 0.02868
NM_001037.5(SCN1B):c.207+14G>A rs16969924 0.02860
NM_144670.6(A2ML1):c.1109T>C (p.Phe370Ser) rs61744220 0.02860
NM_000091.5(COL4A3):c.805G>A (p.Glu269Lys) rs80109666 0.02845
NM_015506.3(MMACHC):c.178G>C (p.Asp60His) rs6662272 0.02835
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118 0.02828
NM_002234.4(KCNA5):c.381C>T (p.Ser127=) rs45504599 0.02823
NM_000228.3(LAMB3):c.2702-14G>A rs199838217 0.02820
NM_001164508.2(NEB):c.4407G>C (p.Glu1469Asp) rs34800215 0.02813
NM_000501.4(ELN):c.2033-16A>G rs45618836 0.02805
NM_001458.5(FLNC):c.2390-13C>T rs78086167 0.02800
NM_000155.4(GALT):c.876G>A (p.Thr292=) rs1055607 0.02790
NM_001711.6(BGN):c.910-18C>T rs55934508 0.02787
NM_013266.4(CTNNA3):c.843+17A>G rs77409659 0.02787
NM_001458.5(FLNC):c.5669-12C>T rs79790270 0.02786
NM_001085049.3(MRAS):c.177A>G (p.Gln59=) rs16848033 0.02779
NM_004304.5(ALK):c.3408C>T (p.Ser1136=) rs56146053 0.02769
NM_004006.3(DMD):c.6463C>T (p.Arg2155Trp) rs1800273 0.02767
NM_002691.4(POLD1):c.1173C>T (p.Asp391=) rs2230244 0.02764
NM_001164508.2(NEB):c.21382T>C (p.Leu7128=) rs114218081 0.02752
NM_001148.6(ANK2):c.384+19C>T rs45502093 0.02751
NM_013975.4(LIG3):c.2472A>G (p.Gln824=) rs3136022 0.02750
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_004006.3(DMD):c.4162T>G (p.Phe1388Val) rs28715870 0.02748
NM_030777.4(SLC2A10):c.1552A>G (p.Thr518Ala) rs6018008 0.02748
NM_014244.5(ADAMTS2):c.936C>T (p.Asn312=) rs35462609 0.02744
NM_000391.4(TPP1):c.381-10dup rs146315473 0.02726
NM_145046.5(CALR3):c.820G>A (p.Val274Ile) rs12459238 0.02726
NM_017636.4(TRPM4):c.3024G>A (p.Ala1008=) rs35145363 0.02710
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_000093.5(COL5A1):c.4230+6G>A rs77176843 0.02700
NM_001077653.2(TBX20):c.765C>A (p.Ile255=) rs6950175 0.02695
NM_007078.3(LDB3):c.1074C>T (p.Ala358=) rs45459491 0.02688
NM_000466.3(PEX1):c.2584-20T>A rs111535201 0.02687
NM_000091.5(COL4A3):c.547-9A>C rs55667591 0.02682
NM_006231.4(POLE):c.3379-5T>C rs5744886 0.02670
NM_005732.4(RAD50):c.2025C>T (p.Asp675=) rs34147298 0.02660
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693 0.02655
NM_000302.4(PLOD1):c.177C>T (p.Gly59=) rs34032489 0.02651
NM_017636.4(TRPM4):c.2934T>C (p.Ile978=) rs35516880 0.02629
NM_006939.4(SOS2):c.1448G>A (p.Ser483Asn) rs17122201 0.02622
NM_014244.5(ADAMTS2):c.1281C>T (p.Asp427=) rs34424371 0.02621
NM_005502.4(ABCA1):c.2960+18G>A rs60913410 0.02619
NM_001267550.2(TTN):c.8116+19G>A rs13011633 0.02607
NM_004415.4(DSP):c.1903+7T>C rs28763962 0.02605
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=) rs1801248 0.02598
NM_001164508.2(NEB):c.19732-6C>T rs11894996 0.02589
NM_032122.5(DTNBP1):c.667+2C>T rs61739410 0.02578
NM_014244.5(ADAMTS2):c.2480G>A (p.Arg827Gln) rs35445112 0.02575
NM_002691.4(POLD1):c.463+9C>T rs1673046 0.02570
NM_004006.3(DMD):c.2623-11C>G rs1028360 0.02567
NM_004304.5(ALK):c.1427T>C (p.Val476Ala) rs35093491 0.02566
NM_022114.4(PRDM16):c.1113C>T (p.Cys371=) rs61745281 0.02560
NM_000093.5(COL5A1):c.4393-9C>T rs11792181 0.02555
NM_024334.3(TMEM43):c.163-14C>T rs113745859 0.02553
NM_001110556.2(FLNA):c.7224C>T (p.Gly2408=) rs12008807 0.02548
NM_000155.4(GALT):c.652C>T (p.Leu218=) rs2070075 0.02537
NM_003242.6(TGFBR2):c.999A>G (p.Leu333=) rs2229102 0.02537
NM_001042492.3(NF1):c.2544G>A (p.Gly848=) rs17883704 0.02535
NM_000093.5(COL5A1):c.2724G>A (p.Pro908=) rs41310207 0.02534
NM_000302.4(PLOD1):c.1329-20G>A rs78527487 0.02519
NM_001232.4(CASQ2):c.731A>G (p.His244Arg) rs28730716 0.02511
NM_000310.4(PPT1):c.837G>C (p.Gln279His) rs72937434 0.02506
NM_001692.4(ATP6V1B1):c.481G>A (p.Glu161Lys) rs114234874 0.02502
NM_001999.4(FBN2):c.8733C>G (p.Leu2911=) rs34383505 0.02500
NM_144670.6(A2ML1):c.1101T>C (p.Asp367=) rs61744222 0.02500
NM_004628.5(XPC):c.622-16C>G rs3731111 0.02487
NM_017636.4(TRPM4):c.1050+13_1050+16dup rs137898843 0.02485
NM_006493.4(CLN5):c.87C>G (p.Ala29=) rs138037471 0.02484
NM_053025.4(MYLK):c.4194C>T (p.His1398=) rs17298941 0.02481
NM_006383.4(CIB2):c.303G>A (p.Ser101=) rs77370542 0.02451
NM_004006.3(DMD):c.-8T>A rs113726961 0.02450
NM_001134363.3(RBM20):c.517C>A (p.Pro173Thr) rs7908490 0.02441
NM_000441.2(SLC26A4):c.1708-18T>A rs55701254 0.02432
NM_000143.4(FH):c.927G>A (p.Pro309=) rs61737760 0.02428
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=) rs28763943 0.02427
NM_000487.6(ARSA):c.243C>T (p.Gly81=) rs6151410 0.02425
NM_014476.6(PDLIM3):c.42C>T (p.Gly14=) rs116775669 0.02423
NM_000018.4(ACADVL):c.1038G>A (p.Ala346=) rs8064573 0.02419
NM_001267550.2(TTN):c.25626G>T (p.Gln8542His) rs2562832 0.02406
NM_000151.4(G6PC1):c.432G>A (p.Pro144=) rs161628 0.02402
NM_001267550.2(TTN):c.25707T>C (p.Tyr8569=) rs2742329 0.02401
NM_005901.6(SMAD2):c.1280+16T>C rs72661148 0.02401
NM_000136.3(FANCC):c.408A>G (p.Gln136=) rs1800360 0.02397
NM_004628.5(XPC):c.300G>A (p.Arg100=) rs2228002 0.02396
NM_001134363.3(RBM20):c.695G>A (p.Gly232Asp) rs61735268 0.02395
NM_001267550.2(TTN):c.45526C>T (p.Leu15176=) rs61004744 0.02387
NM_001384474.1(LOXHD1):c.2T>A (p.Met1Lys) rs36024592 0.02382
NM_206933.4(USH2A):c.15377T>C (p.Ile5126Thr) rs111033266 0.02380
NM_001164508.2(NEB):c.612+8T>C rs113095802 0.02379
NM_000055.4(BCHE):c.849G>C (p.Glu283Asp) rs16849700 0.02374
NM_000093.5(COL5A1):c.1935+8T>G rs79195626 0.02373
NM_000492.4(CFTR):c.3468+2109T>C rs213982 0.02368
NM_000214.3(JAG1):c.924C>T (p.Asn308=) rs45575136 0.02367
NM_001377540.1(SLMAP):c.2145G>A (p.Gln715=) rs17745496 0.02362
NM_001177316.2(SLC34A3):c.175+123C>T rs111532084 0.02353
NM_001386140.1(MTTP):c.660T>C (p.Tyr220=) rs113557405 0.02353
NM_001267550.2(TTN):c.52917T>C (p.Asp17639=) rs73036398 0.02352
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873 0.02345
NM_003060.4(SLC22A5):c.1645C>T (p.Pro549Ser) rs11568525 0.02345
NM_006231.4(POLE):c.3126G>A (p.Lys1042=) rs5744856 0.02344
NM_144670.6(A2ML1):c.4234A>G (p.Thr1412Ala) rs7315591 0.02333
NM_001110556.2(FLNA):c.1968C>T (p.Leu656=) rs73638274 0.02319
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NM_000501.4(ELN):c.2086+5G>C rs111866046 0.02303
NM_000182.5(HADHA):c.1392+10G>A rs60085478 0.02277
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914 0.02271
NM_001042492.3(NF1):c.4882T>C (p.Leu1628=) rs10512435 0.02270
NM_000136.3(FANCC):c.1345G>A (p.Val449Met) rs1800367 0.02254
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=) rs35534817 0.02253
NM_001267550.2(TTN):c.26991A>G (p.Thr8997=) rs61232800 0.02248
NM_024312.5(GNPTAB):c.3693+10A>T rs76021817 0.02246
NM_000264.5(PTCH1):c.735A>G (p.Thr245=) rs1805154 0.02243
NM_001164508.2(NEB):c.8466C>T (p.His2822=) rs61730771 0.02236
NM_017636.4(TRPM4):c.267+14C>G rs113040724 0.02235
NM_006514.4(SCN10A):c.5217C>T (p.Asp1739=) rs116353929 0.02232
NM_000337.6(SGCD):c.700-19T>C rs80086857 0.02231
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn) rs138579182 0.02227
NM_014625.4(NPHS2):c.725C>T (p.Ala242Val) rs61747727 0.02224
NM_133378.4(TTN):c.93062-10T>C rs202214630 0.02222
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02218
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=) rs11551373 0.02216
NM_013266.4(CTNNA3):c.393G>A (p.Ala131=) rs80182543 0.02215
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys) rs2229420 0.02193
NM_004006.3(DMD):c.8762A>G (p.His2921Arg) rs1800279 0.02191
NM_001267550.2(TTN):c.41508T>C (p.Ala13836=) rs55847232 0.02188
NM_001267550.2(TTN):c.45738T>C (p.Ala15246=) rs2303829 0.02187
NM_000335.5(SCN5A):c.2263-18T>C rs9835588 0.02184
NM_000110.4(DPYD):c.1218G>A (p.Met406Ile) rs61622928 0.02183
NM_001267550.2(TTN):c.15717G>A (p.Thr5239=) rs72648932 0.02158
NM_000448.3(RAG1):c.906C>A (p.Asp302Glu) rs4151030 0.02153
NM_001378454.1(ALMS1):c.9907+20C>T rs74730457 0.02147
NM_001267550.2(TTN):c.93387C>T (p.Ser31129=) rs35445420 0.02143
NM_006506.5(RASA2):c.528-19C>T rs75293937 0.02143
NM_001384140.1(PCDH15):c.3718-19C>A rs75248212 0.02141
NM_000016.6(ACADM):c.489T>G (p.Pro163=) rs78392995 0.02136
NM_000465.4(BARD1):c.1933T>C (p.Cys645Arg) rs2228456 0.02135
NM_000414.4(HSD17B4):c.420A>T (p.Lys140Asn) rs28943589 0.02134
NM_006939.4(SOS2):c.816T>C (p.Ser272=) rs35396088 0.02130
NM_000302.4(PLOD1):c.1788G>T (p.Val596=) rs35460537 0.02126
NM_022114.4(PRDM16):c.627C>T (p.His209=) rs12058363 0.02126
NM_004006.3(DMD):c.4878G>T (p.Val1626=) rs61733574 0.02120
NM_000098.3(CPT2):c.511C>T (p.Leu171=) rs2229292 0.02118
NM_001267550.2(TTN):c.43488G>A (p.Arg14496=) rs56034831 0.02114
NM_030777.4(SLC2A10):c.1609A>G (p.Ile537Val) rs7348121 0.02113
NM_000302.4(PLOD1):c.2133C>G (p.Leu711=) rs879691 0.02109
NM_001267550.2(TTN):c.67635T>C (p.Val22545=) rs2288570 0.02106
NM_001378454.1(ALMS1):c.11523G>A (p.Glu3841=) rs35760114 0.02099
NM_001267550.2(TTN):c.52821T>C (p.Asp17607=) rs2303831 0.02082
NM_000018.4(ACADVL):c.49C>T (p.Leu17Phe) rs2230179 0.02069
NM_002691.4(POLD1):c.2154+13_2154+14insA rs3218767 0.02057
NM_006258.4(PRKG1):c.888T>C (p.Leu296=) rs113994747 0.02057
NM_001267550.2(TTN):c.51684G>A (p.Ala17228=) rs2288566 0.02055
NM_001711.6(BGN):c.120A>G (p.Glu40=) rs34441665 0.02054
NM_006231.4(POLE):c.4290+5C>T rs5744936 0.02053
NM_006231.4(POLE):c.2340G>A (p.Ser780=) rs5744822 0.02051
NM_001110556.2(FLNA):c.3270C>T (p.Ile1090=) rs79391751 0.02044
NM_005188.4(CBL):c.869+4A>G rs77284821 0.02038
NM_054012.4(ASS1):c.688+4T>C rs78432485 0.02036
NM_017636.4(TRPM4):c.449-10G>A rs78444754 0.02013
NM_001267550.2(TTN):c.86811A>G (p.Val28937=) rs55972010 0.02012
NM_001099857.5(IKBKG):c.1056-18C>T rs386134237 0.02010
NM_000179.3(MSH6):c.2253T>C (p.Asn751=) rs2020913 0.02003
NM_001267550.2(TTN):c.92901C>T (p.Ser30967=) rs11694623 0.01999
NM_006767.4(LZTR1):c.2160C>T (p.Phe720=) rs79640036 0.01999
NM_001267550.2(TTN):c.87669T>C (p.His29223=) rs72648229 0.01997
NM_001267550.2(TTN):c.87087T>C (p.Leu29029=) rs12621078 0.01996
NM_000091.5(COL4A3):c.2715C>T (p.Pro905=) rs75519005 0.01995
NM_001035.3(RYR2):c.11557+19C>T rs113408406 0.01994
NM_033118.4(MYLK2):c.1082+11G>A rs76530988 0.01993
NM_001267550.2(TTN):c.91852+8T>A rs56145100 0.01992
NM_017617.5(NOTCH1):c.2587+20G>A rs148381982 0.01991
NM_001267550.2(TTN):c.80799C>A (p.Thr26933=) rs3813247 0.01986
NM_012434.5(SLC17A5):c.1111+7G>A rs146729568 0.01982
NM_001267550.2(TTN):c.95553C>T (p.Ser31851=) rs72648260 0.01980
NM_001110556.2(FLNA):c.7553-18A>G rs112682871 0.01979
NM_001267550.2(TTN):c.81855C>T (p.Ile27285=) rs56214710 0.01979
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801 0.01974
NM_000512.5(GALNS):c.318C>T (p.Asn106=) rs34278797 0.01971
NM_001927.4(DES):c.-30_-18dup rs794728983 0.01968
NM_006514.4(SCN10A):c.4710G>A (p.Thr1570=) rs78425180 0.01966
NM_006915.3(RP2):c.844C>T (p.Arg282Trp) rs1805147 0.01957
NM_001267550.2(TTN):c.18903C>T (p.Thr6301=) rs72648950 0.01956
NM_001042492.3(NF1):c.7971-19G>T rs17887156 0.01950
NM_004646.4(NPHS1):c.59-5C>G rs114595892 0.01945
NM_001105206.3(LAMA4):c.423-4T>G rs79008328 0.01927
NM_001267550.2(TTN):c.29812A>T (p.Thr9938Ser) rs72650006 0.01917
NM_017780.4(CHD7):c.2124T>C (p.Ser708=) rs79302359 0.01911
NM_003640.5(ELP1):c.959-15C>T rs112114410 0.01906
NM_017780.4(CHD7):c.5307C>T (p.Ala1769=) rs16926499 0.01905
NM_000182.5(HADHA):c.109+20A>G rs7569108 0.01898
NM_001032283.3(TMPO):c.565+1296T>G rs35645287 0.01895
NM_000335.5(SCN5A):c.482+16G>C rs41312949 0.01894
NM_001384732.1(CPLANE1):c.1809T>C (p.Thr603=) rs115435816 0.01890
NM_001105206.3(LAMA4):c.4173T>C (p.Tyr1391=) rs35042032 0.01889
NM_000302.4(PLOD1):c.540G>A (p.Gln180=) rs35958757 0.01887
NM_004628.5(XPC):c.46C>G (p.Leu16Val) rs1870134 0.01876
NM_004304.5(ALK):c.4596C>T (p.Asn1532=) rs1881422 0.01874
NM_003640.5(ELP1):c.189C>T (p.Leu63=) rs2230786 0.01873
NM_001267550.2(TTN):c.24909G>A (p.Lys8303=) rs72648983 0.01872
NM_001378969.1(KCND3):c.669G>C (p.Ser223=) rs17215423 0.01872
NM_004304.5(ALK):c.4203T>C (p.Tyr1401=) rs55772745 0.01865
NM_001378969.1(KCND3):c.375G>A (p.Pro125=) rs2289723 0.01862
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=) rs28763946 0.01862
NM_017617.5(NOTCH1):c.711C>T (p.Gly237=) rs61751557 0.01860
NM_005901.6(SMAD2):c.828G>A (p.Ser276=) rs1051066 0.01853
NM_006231.4(POLE):c.2320-13A>G rs75329753 0.01853
NM_014391.3(ANKRD1):c.346-15T>A rs11595794 0.01849
NM_007078.3(LDB3):c.1903G>A (p.Val635Ile) rs45618633 0.01846
NM_017636.4(TRPM4):c.783G>A (p.Lys261=) rs111930830 0.01836
NM_020778.5(ALPK3):c.2177A>G (p.Gln726Arg) rs78778733 0.01836
NM_020778.5(ALPK3):c.2431G>A (p.Glu811Lys) rs35633849 0.01835
NM_030777.4(SLC2A10):c.1154C>G (p.Ala385Gly) rs79849424 0.01835
NM_138694.4(PKHD1):c.9577G>A (p.Val3193Ile) rs35445653 0.01835
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_138694.4(PKHD1):c.8108-16G>C rs73442356 0.01832
NM_001267550.2(TTN):c.49648+16T>C rs57677875 0.01831
NM_004646.4(NPHS1):c.1175T>C (p.Leu392Pro) rs34320609 0.01801
NM_001134363.3(RBM20):c.1914G>A (p.Pro638=) rs74339620 0.01800
NM_000249.4(MLH1):c.381-41A>G rs4647245 0.01794
NM_000153.4(GALC):c.1072C>T (p.Leu358=) rs74073730 0.01792
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala) rs35852101 0.01792
NM_001136271.3(NKX2-6):c.786C>G (p.Gly262=) rs61749320 0.01783
NM_000719.7(CACNA1C):c.5680+15C>T rs114036394 0.01782
NM_001267550.2(TTN):c.542G>A (p.Ser181Asn) rs72647843 0.01782
NM_144670.6(A2ML1):c.1444_1445del (p.Ser482fs) rs143864957 0.01780
NM_001035.3(RYR2):c.5654G>A (p.Gly1885Glu) rs41315858 0.01767
NM_001184.4(ATR):c.1326A>G (p.Lys442=) rs28897765 0.01766
NM_181486.4(TBX5):c.1281C>T (p.Ser427=) rs6489957 0.01766
NM_001267550.2(TTN):c.22611T>C (p.His7537=) rs16866469 0.01765
NM_001164508.2(NEB):c.8318G>A (p.Arg2773Gln) rs35974308 0.01764
NM_017617.5(NOTCH1):c.2205C>T (p.Asn735=) rs2229970 0.01759
NM_006258.4(PRKG1):c.408G>A (p.Pro136=) rs55806342 0.01754
NM_017636.4(TRPM4):c.3641-19C>G rs7256050 0.01753
NM_001032283.3(TMPO):c.565+1132T>G rs35998138 0.01742
NM_005502.4(ABCA1):c.813+17C>T rs116728780 0.01740
NM_001184.4(ATR):c.1950G>A (p.Glu650=) rs28910270 0.01739
NM_001032283.3(TMPO):c.565+1853G>C rs35761089 0.01735
NM_001164508.2(NEB):c.23381C>T (p.Ser7794Leu) rs41270201 0.01730
NM_001110792.2(MECP2):c.1269C>T (p.Ser423=) rs3027928 0.01726
NM_000245.4(MET):c.1124A>G (p.Asn375Ser) rs33917957 0.01723
NM_003476.5(CSRP3):c.312C>G (p.Thr104=) rs45582433 0.01721
NM_001384140.1(PCDH15):c.157+41381G>C rs115394626 0.01718
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) rs4987188 0.01714
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) rs76148000 0.01714
NM_001378454.1(ALMS1):c.671C>A (p.Pro224His) rs11889925 0.01714
NM_031885.5(BBS2):c.612+12C>A rs77019529 0.01713
NM_000093.5(COL5A1):c.4955-16C>T rs112712705 0.01710
NM_002691.4(POLD1):c.1713C>T (p.Pro571=) rs2230248 0.01698
NM_001164508.2(NEB):c.21856G>A (p.Asp7286Asn) rs35625617 0.01691
NM_000093.5(COL5A1):c.5067+20C>G rs112600748 0.01689
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His) rs45517323 0.01675
NM_004100.5(EYA4):c.804+17T>C rs57845656 0.01673
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_001377540.1(SLMAP):c.1968T>A (p.Leu656=) rs35219531 0.01667
NM_001267550.2(TTN):c.25936C>T (p.Arg8646Cys) rs72648987 0.01656
NM_144997.7(FLCN):c.872-13A>G rs114970273 0.01651
NM_000352.6(ABCC8):c.-19A>G rs193922394 0.01648
NM_001743.6(CALM2):c.421+18A>G rs2016682 0.01645
NM_001184.4(ATR):c.2875G>A (p.Val959Met) rs28910271 0.01643
NM_001378454.1(ALMS1):c.1871A>G (p.His624Arg) rs41291187 0.01638
NM_001105206.3(LAMA4):c.196-12T>C rs78871662 0.01634
NM_003923.3(FOXH1):c.1077G>A (p.Leu359=) rs7833404 0.01634
NM_004006.3(DMD):c.5724T>C (p.Asp1908=) rs143159113 0.01630
NM_033337.3(CAV3):c.171G>A (p.Val57=) rs61147808 0.01628
NM_001164508.2(NEB):c.571G>C (p.Glu191Gln) rs35686968 0.01624
NM_003982.4(SLC7A7):c.272C>T (p.Ala91Val) rs11568438 0.01617
NM_006790.3(MYOT):c.780G>A (p.Ser260=) rs116773838 0.01617
NM_003640.5(ELP1):c.2587+14C>T rs141670242 0.01614
NM_000360.4(TH):c.1035G>T (p.Ala345=) rs11826260 0.01611
NM_000543.5(SMPD1):c.807C>T (p.Ala269=) rs35933246 0.01598
NM_032495.6(HOPX):c.87G>A (p.Glu29=) rs11555052 0.01597
NM_001105206.3(LAMA4):c.423-10C>T rs75058449 0.01596
NM_003640.5(ELP1):c.2855A>T (p.Lys952Ile) rs2230798 0.01592
NM_002230.4(JUP):c.867C>T (p.Thr289=) rs2230407 0.01591
NM_012452.3(TNFRSF13B):c.563A>T (p.Lys188Met) rs74811083 0.01589
NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=) rs78905646 0.01586
NM_001134363.3(RBM20):c.3144C>T (p.Ser1048=) rs75858380 0.01586
NM_000719.7(CACNA1C):c.171C>T (p.Asp57=) rs34419050 0.01584
NM_000277.3(PAH):c.963C>T (p.Leu321=) rs61747292 0.01582
NM_000543.5(SMPD1):c.559C>T (p.Pro187Ser) rs74053349 0.01580
NM_012082.4(ZFPM2):c.3369A>G (p.Leu1123=) rs16873744 0.01580
NM_001267550.2(TTN):c.62178T>C (p.Thr20726=) rs72646847 0.01577
NM_000271.5(NPC1):c.1947+14G>T rs3745024 0.01574
NM_000264.5(PTCH1):c.318C>T (p.Leu106=) rs1805153 0.01567
NM_002755.4(MAP2K1):c.438+20C>T rs16949939 0.01567
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_005751.5(AKAP9):c.2782T>C (p.Leu928=) rs34370932 0.01563
NM_053025.4(MYLK):c.1516+16C>T rs77590783 0.01553
NM_000393.5(COL5A2):c.1006-9C>T rs73978832 0.01552
NM_005751.5(AKAP9):c.10608-15G>C rs112467497 0.01552
NM_001267550.2(TTN):c.106476T>C (p.Cys35492=) rs6725673 0.01548
NM_000218.3(KCNQ1):c.1455C>T (p.Phe485=) rs17215465 0.01545
NM_001042492.3(NF1):c.2851-16T>C rs17880825 0.01543
NM_017780.4(CHD7):c.6738G>A (p.Glu2246=) rs61729627 0.01533
NM_000022.4(ADA):c.36= (p.Val12=) rs394105 0.01530
NM_000642.3(AGL):c.112A>G (p.Thr38Ala) rs35278779 0.01527
NM_001042492.3(NF1):c.4929G>A (p.Val1643=) rs17880521 0.01527
NM_152564.5(VPS13B):c.10065G>T (p.Ala3355=) rs61753726 0.01526
NM_001267550.2(TTN):c.52706-17A>G rs72646807 0.01524
NM_001458.5(FLNC):c.8121T>C (p.Ile2707=) rs28437296 0.01520
NM_005477.3(HCN4):c.1737+20G>A rs115706632 0.01520
NM_001267550.2(TTN):c.18390A>T (p.Thr6130=) rs66523653 0.01518
NM_001384140.1(PCDH15):c.546A>G (p.Gly182=) rs34164469 0.01517
NM_001458.5(FLNC):c.1374C>T (p.Pro458=) rs115140972 0.01514
NM_013266.4(CTNNA3):c.348A>C (p.Pro116=) rs61749224 0.01511
NM_004006.3(DMD):c.3705C>T (p.Ala1235=) rs143628111 0.01510
NM_174936.4(PCSK9):c.1504-16C>T rs28362269 0.01510
NM_005751.5(AKAP9):c.10331A>G (p.Gln3444Arg) rs34956633 0.01509
NM_001184.4(ATR):c.293-20C>T rs115097590 0.01504
NM_030787.4(CFHR5):c.507C>T (p.Asp169=) rs34533956 0.01500
NM_004006.3(DMD):c.4344+17A>T rs72468646 0.01496
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362 0.01494
NM_001267550.2(TTN):c.2781A>C (p.Thr927=) rs55892860 0.01493
NM_022114.4(PRDM16):c.2793C>T (p.Asn931=) rs59135929 0.01493
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892 0.01492
NM_020533.3(MCOLN1):c.777+99G>A rs12462124 0.01482
NM_017617.5(NOTCH1):c.*6G>A rs73668310 0.01480
NM_024301.5(FKRP):c.192C>T (p.Pro64=) rs111754012 0.01474
NM_000093.5(COL5A1):c.5068-7T>C rs113256540 0.01472
NM_000136.3(FANCC):c.843+4C>T rs4647506 0.01468
NM_001458.5(FLNC):c.8118C>T (p.Leu2706=) rs28379666 0.01465
NM_005902.4(SMAD3):c.870C>T (p.Ile290=) rs117185005 0.01464
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=) rs61749202 0.01463
NM_001105206.3(LAMA4):c.531C>T (p.Pro177=) rs61742228 0.01462
NM_000020.3(ACVRL1):c.330G>A (p.Ser110=) rs77341011 0.01461
NM_022114.4(PRDM16):c.2940-17G>A rs41301967 0.01452
NM_003640.5(ELP1):c.3492C>T (p.Asp1164=) rs79596285 0.01448
NM_000305.3(PON2):c.-5G>A rs17876183 0.01439
NM_001386795.1(DTNA):c.1903+8G>A rs111817603 0.01438
NM_006231.4(POLE):c.2550C>T (p.Ile850=) rs5744834 0.01438
NM_001114753.3(ENG):c.1794T>C (p.Gly598=) rs41358947 0.01435
NM_000251.3(MSH2):c.1077-10T>C rs17224360 0.01428
NM_006767.4(LZTR1):c.2253C>T (p.Phe751=) rs143758478 0.01424
NM_024312.5(GNPTAB):c.204-15G>T rs10860787 0.01423
NM_000318.3(PEX2):c.550= (p.Cys184=) rs10087163 0.01422
NM_001267550.2(TTN):c.3993C>T (p.Ile1331=) rs55757622 0.01419
NM_003238.6(TGFB2):c.643+7A>C rs7531245 0.01418
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys) rs5745066 0.01416
NM_001042492.3(NF1):c.8113+20G>A rs55747230 0.01406
NM_006231.4(POLE):c.5678+4C>T rs5744973 0.01405
NM_022437.3(ABCG8):c.165+13C>T rs75365565 0.01403
NM_001267550.2(TTN):c.58933C>T (p.Leu19645=) rs2303836 0.01401
NM_002471.4(MYH6):c.3979-7del rs397516766 0.01401
NM_000719.7(CACNA1C):c.213G>A (p.Ala71=) rs113869350 0.01399
NM_000543.5(SMPD1):c.1763C>T (p.Thr588Met) rs35785620 0.01390
NM_001267550.2(TTN):c.49985A>C (p.Asn16662Thr) rs36043230 0.01390
NM_000237.3(LPL):c.1018+16T>C rs59184895 0.01380
NM_006493.4(CLN5):c.381T>G (p.Thr127=) rs34481987 0.01377
NM_001042492.3(NF1):c.168C>T (p.Ser56=) rs17881168 0.01374
NM_053025.4(MYLK):c.2533C>T (p.Arg845Cys) rs3732485 0.01370
NM_144670.6(A2ML1):c.3380C>T (p.Ser1127Leu) rs61749078 0.01369
NM_004655.4(AXIN2):c.1383C>T (p.Ser461=) rs9914661 0.01367
NM_003036.4(SKI):c.99C>G (p.Gly33=) rs200019352 0.01364
NM_000257.4(MYH7):c.1408-42del rs45490796 0.01363
NM_032578.4(MYPN):c.2925+9G>C rs12241644 0.01362
NM_004655.4(AXIN2):c.1615G>A (p.Val539Met) rs9913621 0.01361
NM_000282.4(PCCA):c.1429+7A>G rs16957276 0.01356
NM_001110556.2(FLNA):c.7434G>A (p.Glu2478=) rs74667788 0.01349
NM_005591.4(MRE11):c.1002C>G (p.Ser334Arg) rs115244417 0.01348
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_002474.3(MYH11):c.4770G>A (p.Lys1590=) rs11648119 0.01341
NM_004415.4(DSP):c.4773G>A (p.Arg1591=) rs28763968 0.01341
NM_144670.6(A2ML1):c.3392C>T (p.Thr1131Met) rs7959680 0.01340
NM_017882.3(CLN6):c.486+8C>T rs149692285 0.01339
NM_004304.5(ALK):c.-5G>A rs56270786 0.01336
NM_017617.5(NOTCH1):c.2468-19G>A rs116515776 0.01328
NM_000237.3(LPL):c.953A>G (p.Asn318Ser) rs268 0.01327
NM_000352.6(ABCC8):c.4120-19C>T rs1800853 0.01325
NM_144670.6(A2ML1):c.3272T>C (p.Val1091Ala) rs61736726 0.01323
NM_006231.4(POLE):c.91G>T (p.Ala31Ser) rs34047482 0.01320
NM_001114122.3(CHEK1):c.1260A>G (p.Arg420=) rs141332865 0.01316
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala) rs140598 0.01315
NM_000198.4(HSD3B2):c.707T>C (p.Leu236Ser) rs35887327 0.01309
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly) rs11203289 0.01309
NM_001267550.2(TTN):c.2949C>T (p.Ile983=) rs56310516 0.01308
NM_000352.6(ABCC8):c.3329+6C>T rs113873225 0.01304
NM_000110.4(DPYD):c.1236G>A (p.Glu412=) rs56038477 0.01297
NM_000548.5(TSC2):c.3883+8C>G rs45517316 0.01297
NM_017617.5(NOTCH1):c.1100-16G>C rs146815871 0.01292
NM_032588.4(TRIM63):c.502-8C>T rs6656100 0.01290
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_000093.5(COL5A1):c.2799+4T>C rs75815945 0.01279
NM_025137.4(SPG11):c.6330G>A (p.Gly2110=) rs35932349 0.01279
NM_001267550.2(TTN):c.104576G>A (p.Arg34859Gln) rs68080670 0.01276
NM_005472.4(KCNE3):c.*17C>T rs11822977 0.01276
NM_020778.5(ALPK3):c.2811C>G (p.Ala937=) rs35621845 0.01276
NM_000053.4(ATP7B):c.1707+9T>C rs114449708 0.01274
NM_001159699.2(FHL1):c.737-13T>C rs11798700 0.01269
NM_033118.4(MYLK2):c.430C>G (p.Pro144Ala) rs34396614 0.01268
NM_001267550.2(TTN):c.23001G>A (p.Thr7667=) rs16866467 0.01263
NM_001110556.2(FLNA):c.2433C>T (p.Ala811=) rs35986650 0.01258
NM_001110556.2(FLNA):c.4598+8G>C rs112379782 0.01252
NM_000238.4(KCNH2):c.*15G>A rs41313746 0.01245
NM_001127649.3(PEX26):c.*10C>T rs117472525 0.01244
NM_001250.5(CD40):c.-69delT rs11569300 0.01244
NM_004415.4(DSP):c.2815G>A (p.Gly939Ser) rs80325569 0.01244
NM_000303.3(PMM2):c.324G>A (p.Ala108=) rs62031146 0.01239
NM_005751.5(AKAP9):c.1301G>A (p.Arg434Gln) rs60031334 0.01237
NM_001164508.2(NEB):c.20766C>T (p.Asp6922=) rs34555492 0.01234
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_001458.5(FLNC):c.6004+19G>A rs12530507 0.01231
NM_020297.4(ABCC9):c.3321C>T (p.Ile1107=) rs35404804 0.01226
NM_001164508.2(NEB):c.3775-6T>C rs80232472 0.01222
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=) rs9590940 0.01220
NM_004006.3(DMD):c.3021G>A (p.Ser1007=) rs1800268 0.01212
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584 0.01206
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln) rs1800725 0.01203
NM_003098.3(SNTA1):c.1350C>T (p.Phe450=) rs116747979 0.01203
NM_000393.5(COL5A2):c.403-16T>A rs117085226 0.01199
NM_000393.5(COL5A2):c.98-12T>G rs117917418 0.01199
NM_017617.5(NOTCH1):c.5679C>T (p.Gly1893=) rs2229973 0.01198
NM_001267550.2(TTN):c.1003G>A (p.Val335Met) rs72647846 0.01195
NM_001267550.2(TTN):c.98595A>G (p.Glu32865=) rs55977045 0.01192
NM_003036.4(SKI):c.294C>T (p.Thr98=) rs115746142 0.01188
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361 0.01187
NM_138694.4(PKHD1):c.10585G>C (p.Glu3529Gln) rs145184792 0.01187
NM_145046.5(CALR3):c.861G>A (p.Thr287=) rs118131979 0.01186
NM_001267550.2(TTN):c.69585C>T (p.Ser23195=) rs67041405 0.01183
NM_020297.4(ABCC9):c.789C>T (p.Cys263=) rs58386780 0.01183
NM_033118.4(MYLK2):c.918C>T (p.Ala306=) rs41293106 0.01179
NM_001159699.2(FHL1):c.871G>A (p.Asp291Asn) rs151315725 0.01175
NM_022124.6(CDH23):c.1423G>A (p.Val475Met) rs62622410 0.01173
NM_001267550.2(TTN):c.1398+8C>T rs72647848 0.01171
NM_000093.5(COL5A1):c.5190C>T (p.Phe1730=) rs61729481 0.01170
NM_002474.3(MYH11):c.3651+7_3651+11del rs369806813 0.01163
NM_004484.4(GPC3):c.204G>A (p.Lys68=) rs61754632 0.01163
NM_017617.5(NOTCH1):c.2664C>T (p.His888=) rs61751548 0.01162
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=) rs116091486 0.01159
NM_000512.5(GALNS):c.1413C>T (p.Val471=) rs73251084 0.01159
NM_001105206.3(LAMA4):c.4065C>T (p.Phe1355=) rs34753919 0.01154
NM_138694.4(PKHD1):c.8174-18T>A rs111383080 0.01154
NM_000249.4(MLH1):c.1039-8T>A rs193922367 0.01153
NM_005502.4(ABCA1):c.6450G>A (p.Pro2150=) rs61741359 0.01152
NM_032578.4(MYPN):c.3279C>T (p.Asp1093=) rs115033934 0.01152
NM_144670.6(A2ML1):c.1686T>G (p.Val562=) rs12296765 0.01152
NM_001267550.2(TTN):c.106619T>C (p.Ile35540Thr) rs55880440 0.01150
NM_005751.5(AKAP9):c.747A>G (p.Glu249=) rs78515732 0.01148
NM_001267550.2(TTN):c.47400G>A (p.Lys15800=) rs114145817 0.01143
NM_000203.5(IDUA):c.1174C>T (p.Leu392=) rs201682298 0.01139
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148 0.01138
NM_001105206.3(LAMA4):c.4287+15C>T rs116361180 0.01137
NM_006231.4(POLE):c.2174-8G>A rs117409343 0.01137
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=) rs11574895 0.01135
NM_001374623.1(PNPLA1):c.1464T>A (p.Tyr488Ter) rs45621032 0.01134
NM_002474.3(MYH11):c.2412-9C>A rs148682361 0.01132
NM_000016.6(ACADM):c.900C>T (p.Thr300=) rs17097429 0.01131
NM_001267550.2(TTN):c.53192T>C (p.Ile17731Thr) rs72646809 0.01131
NM_005591.4(MRE11):c.1994+10G>A rs1805366 0.01130
NM_017636.4(TRPM4):c.3082C>T (p.Leu1028=) rs79286201 0.01125
NM_001035.3(RYR2):c.10230+20T>C rs74323916 0.01122
NM_000090.4(COL3A1):c.3525+19del rs138061246 0.01120
NM_001164508.2(NEB):c.3147+5G>A rs74859201 0.01118
NM_001267550.2(TTN):c.16095C>T (p.Asn5365=) rs72648935 0.01116
NM_004333.6(BRAF):c.-19C>T rs71645935 0.01115
NM_000478.6(ALPL):c.1542G>T (p.Ala514=) rs3200256 0.01113
NM_005502.4(ABCA1):c.2868C>T (p.Thr956=) rs35561837 0.01113
NM_002691.4(POLD1):c.2862G>C (p.Thr954=) rs3219440 0.01109
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_005477.3(HCN4):c.1839C>T (p.Phe613=) rs117731813 0.01108
NM_002878.4(RAD51D):c.698A>G (p.Glu233Gly) rs28363284 0.01102
NM_004006.3(DMD):c.1554T>A (p.Asp518Glu) rs61733587 0.01098
NM_001035.3(RYR2):c.6440+20C>T rs115755128 0.01092
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln) rs3219497 0.01092
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_000074.3(CD40LG):c.684A>G (p.Val228=) rs11575983 0.01089
NM_000264.5(PTCH1):c.3606C>T (p.Pro1202=) rs138240178 0.01089
NM_000321.3(RB1):c.380+12T>C rs3092881 0.01087
NM_002691.4(POLD1):c.849G>T (p.Gln283His) rs113282414 0.01085
NM_005184.4(CALM3):c.-14C>A rs201296349 0.01085
NM_001110556.2(FLNA):c.869-7C>T rs143311779 0.01084
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) rs28936670 0.01082
NM_001267550.2(TTN):c.4034G>A (p.Gly1345Asp) rs36021856 0.01079
NM_138694.4(PKHD1):c.7298A>T (p.Asp2433Val) rs76895755 0.01078
NM_024334.3(TMEM43):c.934C>T (p.Arg312Trp) rs113449357 0.01077
NM_001042492.3(NF1):c.7755C>T (p.Ser2585=) rs17881980 0.01075
NM_001164508.2(NEB):c.5763+4C>T rs78916288 0.01075
NM_001267550.2(TTN):c.104769A>C (p.Thr34923=) rs56375087 0.01075
NM_001267550.2(TTN):c.106787C>T (p.Thr35596Ile) rs55842557 0.01073
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=) rs114771537 0.01071
NM_138694.4(PKHD1):c.3876C>T (p.Thr1292=) rs2499482 0.01071
NM_000448.3(RAG1):c.1346G>A (p.Arg449Lys) rs4151031 0.01070
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu) rs34629171 0.01070
NM_001276345.2(TNNT2):c.294+7G>A rs45490292 0.01066
NM_138694.4(PKHD1):c.3686G>C (p.Trp1229Ser) rs2499481 0.01066
NM_001142800.2(EYS):c.5044G>T (p.Asp1682Tyr) rs75831552 0.01062
NM_004982.4(KCNJ8):c.855G>A (p.Leu285=) rs34093632 0.01061
NM_005633.4(SOS1):c.1203-20T>C rs112906251 0.01058
NM_000059.4(BRCA2):c.8487+19A>G rs11571743 0.01055
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_002471.4(MYH6):c.2946G>A (p.Glu982=) rs145274612 0.01048
NM_144670.6(A2ML1):c.4325-18A>T rs113456917 0.01045
NM_001267550.2(TTN):c.4347A>G (p.Ser1449=) rs719202 0.01042
NM_003172.4(SURF1):c.543C>T (p.Phe181=) rs62637580 0.01036
NM_000215.4(JAK3):c.2259C>T (p.Ala753=) rs35458530 0.01034
NM_000098.3(CPT2):c.1767G>A (p.Thr589=) rs77565483 0.01032
NM_001035.3(RYR2):c.11880+13_11880+16del rs199562036 0.01032
NM_053025.4(MYLK):c.1327C>T (p.Pro443Ser) rs35156360 0.01032
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544 0.01031
NM_001267550.2(TTN):c.84453A>G (p.Pro28151=) rs73036373 0.01031
NM_001458.5(FLNC):c.2266-14G>C rs75612085 0.01030
NM_005477.3(HCN4):c.1683C>A (p.Gly561=) rs62641690 0.01030
NM_003924.4(PHOX2B):c.552C>T (p.Ser184=) rs17885216 0.01029
NM_000218.3(KCNQ1):c.1394-14C>T rs28730758 0.01027
NM_000070.3(CAPN3):c.551C>T (p.Thr184Met) rs35889956 0.01026
NM_004646.4(NPHS1):c.1930+10C>T rs76131336 0.01025
NM_012186.3(FOXE3):c.423G>A (p.Lys141=) rs145081583 0.01025
NM_002474.3(MYH11):c.387A>G (p.Lys129=) rs78754138 0.01024
NM_000512.5(GALNS):c.1002+17C>T rs78494153 0.01020
NM_001042492.3(NF1):c.1845+13A>T rs17885739 0.01016
NM_000074.3(CD40LG):c.655G>A (p.Gly219Arg) rs148594123 0.01015
NM_000548.5(TSC2):c.4959C>T (p.Ser1653=) rs45517384 0.01015
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_001267550.2(TTN):c.19004A>G (p.Asp6335Gly) rs72648951 0.01012
NM_004006.3(DMD):c.3734C>T (p.Thr1245Ile) rs1800269 0.01009
NM_000019.4(ACAT1):c.731-28G>A rs112489357 0.01003
NM_001308093.3(GATA4):c.1026T>C (p.Pro342=) rs56206007 0.01003
NM_004006.3(DMD):c.8668+19A>G rs148241865 0.01001
NM_017617.5(NOTCH1):c.6648G>A (p.Pro2216=) rs3812596 0.01000
NM_014476.6(PDLIM3):c.831G>A (p.Pro277=) rs61734674 0.00997
NM_000249.4(MLH1):c.588+11G>C rs4647258 0.00993
NM_001999.4(FBN2):c.2778C>T (p.Ala926=) rs28763948 0.00992
NM_017617.5(NOTCH1):c.1665G>A (p.Thr555=) rs148331061 0.00992
NM_001354604.2(MITF):c.1566G>A (p.Thr522=) rs36118030 0.00991
NM_144670.6(A2ML1):c.2252C>T (p.Ala751Val) rs61741216 0.00991
NM_001035.3(RYR2):c.13977G>A (p.Glu4659=) rs78369334 0.00989
NM_001360.3(DHCR7):c.99-4G>A rs140748737 0.00988
NM_001458.5(FLNC):c.4302C>T (p.Arg1434=) rs114697352 0.00988
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_004006.3(DMD):c.6322C>T (p.Arg2108Cys) rs16990169 0.00981
NM_001164508.2(NEB):c.8995-14T>C rs79875240 0.00977
NM_002691.4(POLD1):c.1761C>T (p.Ile587=) rs3218755 0.00976
NM_003036.4(SKI):c.456C>T (p.Arg152=) rs149898447 0.00976
NM_016203.4(PRKAG2):c.*3G>A rs113234987 0.00973
NM_000237.3(LPL):c.1279G>A (p.Ala427Thr) rs5934 0.00972
NM_001164508.2(NEB):c.18555G>A (p.Lys6185=) rs145252235 0.00972
NM_006767.4(LZTR1):c.2219+13C>T rs144005025 0.00972
NM_001267550.2(TTN):c.82575G>A (p.Thr27525=) rs11896779 0.00966
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018 0.00964
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_000719.7(CACNA1C):c.5604A>G (p.Gln1868=) rs11062316 0.00963
NM_006939.4(SOS2):c.2162-4C>A rs57179949 0.00961
NM_005591.4(MRE11):c.1032T>G (p.Leu344=) rs11020793 0.00960
NM_007078.3(LDB3):c.302C>T (p.Pro101Leu) rs45592139 0.00960
NM_000091.5(COL4A3):c.1505-11T>C rs115757151 0.00959
NM_000020.3(ACVRL1):c.1246+9C>T rs115378744 0.00958
NM_000057.4(BLM):c.419A>G (p.Glu140Gly) rs35886055 0.00958
NM_001267550.2(TTN):c.17741-9A>G rs72648944 0.00958
NM_006231.4(POLE):c.2928C>T (p.Arg976=) rs5744845 0.00958
NM_206933.4(USH2A):c.12445T>C (p.Trp4149Arg) rs115884084 0.00956
NM_000091.5(COL4A3):c.73C>T (p.Pro25Ser) rs139271412 0.00952
NM_016599.5(MYOZ2):c.237A>G (p.Ala79=) rs17851524 0.00952
NM_022114.4(PRDM16):c.783C>T (p.Tyr261=) rs61756439 0.00952
NM_006231.4(POLE):c.5583A>C (p.Ser1861=) rs5744972 0.00949
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr) rs9209 0.00948
NM_003098.3(SNTA1):c.555C>T (p.Val185=) rs34995247 0.00948
NM_001035.3(RYR2):c.2204-7C>G rs147479514 0.00944
NM_003742.4(ABCB11):c.3556G>A (p.Glu1186Lys) rs1521808 0.00943
NM_000215.4(JAK3):c.2625C>T (p.Leu875=) rs2230589 0.00942
NM_017617.5(NOTCH1):c.7515T>G (p.Pro2505=) rs34152221 0.00938
NM_022114.4(PRDM16):c.1071C>T (p.Arg357=) rs2483221 0.00935
NM_003036.4(SKI):c.1211+11G>A rs115186522 0.00934
NM_000255.4(MMUT):c.711A>G (p.Pro237=) rs138085432 0.00930
NM_004655.4(AXIN2):c.1573C>G (p.Pro525Ala) rs73346297 0.00930
NM_005901.6(SMAD2):c.730+11T>A rs191998339 0.00929
NM_001308093.3(GATA4):c.1116A>G (p.Ser372=) rs112435835 0.00928
NM_000203.5(IDUA):c.299+6C>T rs147498923 0.00924
NM_000093.5(COL5A1):c.4699-6C>T rs113090154 0.00923
NM_000249.4(MLH1):c.1732-19T>A rs77120160 0.00923
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_005751.5(AKAP9):c.10840A>G (p.Met3614Val) rs34327395 0.00921
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys) rs2230180 0.00920
NM_000018.4(ACADVL):c.623-8C>T rs144996066 0.00919
NM_032578.4(MYPN):c.1245+20A>G rs111634581 0.00919
NM_001943.5(DSG2):c.1543G>A (p.Val515Ile) rs2230235 0.00917
NM_139276.3(STAT3):c.1654-11C>G rs17882035 0.00917
NM_001267550.2(TTN):c.55029G>A (p.Arg18343=) rs62178963 0.00915
NM_001378454.1(ALMS1):c.5463G>A (p.Pro1821=) rs62151609 0.00915
NM_000090.4(COL3A1):c.80-16C>T rs28763875 0.00914
NM_000426.4(LAMA2):c.7431A>T (p.Arg2477Ser) rs34367843 0.00914
NM_000249.4(MLH1):c.1959G>T (p.Leu653=) rs1800146 0.00913
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_001151.4(SLC25A4):c.567T>C (p.Ala189=) rs149101873 0.00911
NM_144670.6(A2ML1):c.590C>T (p.Thr197Ile) rs61734941 0.00911
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052 0.00910
NM_002834.5(PTPN11):c.854-30T>C rs144391508 0.00909
NM_000070.3(CAPN3):c.2332G>A (p.Asp778Asn) rs115311625 0.00908
NM_000719.7(CACNA1C):c.771C>T (p.Val257=) rs112315742 0.00908
NM_001042492.3(NF1):c.2022C>T (p.Ser674=) rs2230851 0.00908
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_014244.5(ADAMTS2):c.1993G>A (p.Gly665Arg) rs35372714 0.00904
NM_000391.4(TPP1):c.1494C>T (p.Pro498=) rs117942457 0.00902
NM_001386795.1(DTNA):c.933C>T (p.Ser311=) rs114170541 0.00902
NM_024996.7(GFM1):c.127A>G (p.Asn43Asp) rs35942089 0.00900
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr) rs5744991 0.00898
NM_022114.4(PRDM16):c.3109+10G>A rs7549401 0.00898
NM_024301.5(FKRP):c.249C>T (p.Ala83=) rs149030303 0.00897
NM_000157.4(GBA1):c.762-18T>A rs140335079 0.00896
NM_030662.4(MAP2K2):c.303+18G>A rs116988721 0.00894
NM_004304.5(ALK):c.645T>C (p.Leu215=) rs115392387 0.00889
NM_000443.4(ABCB4):c.1584G>C (p.Glu528Asp) rs8187797 0.00888
NM_000548.5(TSC2):c.4990-7C>T rs45457095 0.00888
NM_000264.5(PTCH1):c.1854C>T (p.Cys618=) rs62637628 0.00887
NM_001999.4(FBN2):c.1466-5C>T rs28763952 0.00887
NM_005502.4(ABCA1):c.1635C>T (p.Ser545=) rs9282539 0.00886
NM_017780.4(CHD7):c.657C>T (p.Gly219=) rs113483301 0.00881
NM_001114753.3(ENG):c.1374A>G (p.Pro458=) rs34828244 0.00879
NM_201596.3(CACNB2):c.1785C>T (p.His595=) rs61733967 0.00879
NM_000207.3(INS):c.-9C>T rs5505 0.00878
NM_000393.5(COL5A2):c.2661+20G>A rs79623676 0.00876
NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn) rs79040751 0.00875
NM_001164508.2(NEB):c.10338T>C (p.Asn3446=) rs147569843 0.00870
NM_001164508.2(NEB):c.10344C>T (p.Asn3448=) rs145052299 0.00870
NM_001164508.2(NEB):c.10347+6C>T rs141088433 0.00870
NM_001384140.1(PCDH15):c.1360G>A (p.Val454Ile) rs61735473 0.00870
NM_000179.3(MSH6):c.3306T>A (p.Thr1102=) rs2020910 0.00869
NM_030777.4(SLC2A10):c.1288+10G>A rs76315093 0.00869
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_144670.6(A2ML1):c.2295G>A (p.Ala765=) rs79067860 0.00866
NM_014476.6(PDLIM3):c.*12C>T rs8315 0.00865
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
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_000478.6(ALPL):c.1381G>A (p.Val461Ile) rs34810399 0.00860
NM_004100.5(EYA4):c.905G>A (p.Gly302Asp) rs75133151 0.00860
NM_020778.5(ALPK3):c.3362A>G (p.Gln1121Arg) rs114132013 0.00860
NM_000138.5(FBN1):c.3965-8T>C rs140637 0.00859
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123 0.00859
NM_004100.5(EYA4):c.1845C>T (p.Asn615=) rs142721902 0.00854
NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=) rs11574889 0.00854
NM_000416.3(IFNGR1):c.200+18A>G rs41505745 0.00852
NM_201596.3(CACNB2):c.993G>A (p.Ser331=) rs76956014 0.00852
NM_005751.5(AKAP9):c.4841G>A (p.Arg1614Gln) rs2230768 0.00849
NM_002474.3(MYH11):c.4116+12G>A rs193005461 0.00847
NM_001201550.3(CFHR4):c.228T>C (p.Asp76=) rs145744152 0.00846
NM_025137.4(SPG11):c.808G>A (p.Val270Ile) rs80338868 0.00845
NM_001458.5(FLNC):c.2390-14C>T rs71581921 0.00843
NM_001458.5(FLNC):c.6771A>G (p.Pro2257=) rs34422412 0.00842
NM_004333.6(BRAF):c.1315-18T>G rs6959000 0.00840
NM_001384140.1(PCDH15):c.475-3C>T rs41304641 0.00837
NM_006939.4(SOS2):c.591A>G (p.Leu197=) rs113460230 0.00834
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072 0.00832
NM_001267550.2(TTN):c.33340+10T>C rs72650039 0.00830
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp) rs72563785 0.00830
NM_144670.6(A2ML1):c.3108-3dup rs142794811 0.00828
NM_000264.5(PTCH1):c.1641C>T (p.Ser547=) rs2066830 0.00827
NM_000391.4(TPP1):c.1076-18A>G rs78676565 0.00826
NM_001267550.2(TTN):c.71940G>A (p.Leu23980=) rs72646893 0.00826
NM_001267550.2(TTN):c.79689C>A (p.Val26563=) rs10185798 0.00826
NM_006904.7(PRKDC):c.9601C>T (p.Pro3201Ser) rs8178216 0.00825
NM_000548.5(TSC2):c.1110G>A (p.Gln370=) rs1800742 0.00823
NM_001386795.1(DTNA):c.2162+14G>A rs76713874 0.00820
NM_002230.4(JUP):c.2047-14C>G rs116666639 0.00819
NM_002880.4(RAF1):c.1669-13T>C rs147475396 0.00819
NM_001378454.1(ALMS1):c.2661A>G (p.Val887=) rs76266696 0.00818
NM_003073.5(SMARCB1):c.362+7C>T rs34746244 0.00815
NM_001148.6(ANK2):c.3379+12T>G rs139528815 0.00812
NM_000136.3(FANCC):c.1330-3C>T rs4647542 0.00811
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_001079802.2(FKTN):c.1336A>G (p.Asn446Asp) rs41313301 0.00809
NM_001079802.2(FKTN):c.166-6A>G rs41277795 0.00808
NM_001267550.2(TTN):c.105468G>A (p.Pro35156=) rs55806007 0.00808
NM_004006.3(DMD):c.1332-18C>T rs193153078 0.00806
NM_004628.5(XPC):c.1001C>A (p.Pro334His) rs74737358 0.00806
NM_005184.4(CALM3):c.390C>T (p.Asp130=) rs35617141 0.00806
NM_004628.5(XPC):c.2028C>T (p.Tyr676=) rs2228004 0.00805
NM_006231.4(POLE):c.1007A>G (p.Asn336Ser) rs5744760 0.00805
NM_004646.4(NPHS1):c.1758-11C>G rs145554982 0.00802
NM_001943.5(DSG2):c.3135A>C (p.Thr1045=) rs8095704 0.00801
NM_001267550.2(TTN):c.86301G>A (p.Lys28767=) rs56310931 0.00799
NM_000719.7(CACNA1C):c.371+17G>A rs78645318 0.00797
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_005477.3(HCN4):c.2979G>A (p.Thr993=) rs75307879 0.00796
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_001164508.2(NEB):c.24208-7C>T rs113048349 0.00793
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331 0.00792
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00792
NM_003640.5(ELP1):c.1758T>G (p.Pro586=) rs35054425 0.00792
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119 0.00791
NM_003640.5(ELP1):c.2631C>T (p.Ala877=) rs138023874 0.00791
NM_004525.3(LRP2):c.13803G>A (p.Met4601Ile) rs34564141 0.00790
NM_017636.4(TRPM4):c.2619C>T (p.Thr873=) rs144544237 0.00790
NM_001110556.2(FLNA):c.1829-13T>C rs192905521 0.00789
NM_000040.3(APOC3):c.180-16C>T rs5129 0.00787
NM_014476.6(PDLIM3):c.849C>T (p.Gly283=) rs61734675 0.00785
NM_170707.4(LMNA):c.438C>T (p.Ala146=) rs80356805 0.00782
NM_000093.5(COL5A1):c.5151C>T (p.Asp1717=) rs61729558 0.00781
NM_000277.3(PAH):c.1242C>T (p.Tyr414=) rs1801152 0.00779
NM_001148.6(ANK2):c.9996T>C (p.Ser3332=) rs145557320 0.00778
NM_017617.5(NOTCH1):c.2969+13C>T rs7864720 0.00778
NM_000642.3(AGL):c.2802A>C (p.Ala934=) rs34230588 0.00775
NM_005751.5(AKAP9):c.139C>T (p.His47Tyr) rs35669569 0.00775
NM_001267550.2(TTN):c.49443A>C (p.Pro16481=) rs74321406 0.00774
NM_005911.6(MAT2A):c.406-19G>A rs114500620 0.00774
NM_138694.4(PKHD1):c.7921A>G (p.Thr2641Ala) rs7766366 0.00773
NM_000393.5(COL5A2):c.1104+15T>C rs75486409 0.00772
NM_000545.8(HNF1A):c.326+20C>A rs80051981 0.00772
NM_000393.5(COL5A2):c.975C>T (p.Pro325=) rs144344474 0.00770
NM_138694.4(PKHD1):c.7110-7T>A rs113034899 0.00770
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn) rs114402911 0.00770
NM_020297.4(ABCC9):c.2200G>A (p.Val734Ile) rs61688134 0.00769
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=) rs11571642 0.00768
NM_000458.4(HNF1B):c.345-19C>T rs59527848 0.00765
NM_002471.4(MYH6):c.4959+13G>A rs28730765 0.00762
NM_013266.4(CTNNA3):c.1047C>T (p.Asn349=) rs60262757 0.00761
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172 0.00760
NM_000302.4(PLOD1):c.302+15G>A rs140227667 0.00760
NM_006912.6(RIT1):c.375C>T (p.Asp125=) rs34831194 0.00759
NM_022725.4(FANCF):c.387C>T (p.Leu129=) rs45556032 0.00759
NM_000215.4(JAK3):c.1442-5C>T rs3212750 0.00758
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu) rs45517320 0.00758
NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=) rs61730035 0.00758
NM_001267550.2(TTN):c.34970G>A (p.Arg11657His) rs59887778 0.00758
NM_001267550.2(TTN):c.42219C>T (p.Phe14073=) rs150612172 0.00757
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser) rs28933375 0.00756
NM_145261.4(DNAJC19):c.285A>C (p.Gly95=) rs17850540 0.00755
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=) rs201354526 0.00754
NM_014391.3(ANKRD1):c.-17A>G rs79341122 0.00753
NM_005502.4(ABCA1):c.3159T>G (p.Val1053=) rs35871586 0.00751
NM_000548.5(TSC2):c.1543C>T (p.Leu515=) rs35896166 0.00749
NM_001103.4(ACTN2):c.705G>C (p.Val235=) rs2288599 0.00749
NM_005502.4(ABCA1):c.2961-10C>T rs78329992 0.00749
NM_030777.4(SLC2A10):c.1548-18G>A rs113496485 0.00749
NM_000393.5(COL5A2):c.370-16C>T rs148220961 0.00748
NM_014391.3(ANKRD1):c.348G>A (p.Thr116=) rs137914723 0.00748
NM_053025.4(MYLK):c.383C>T (p.Ala128Val) rs143896146 0.00747
NM_000091.5(COL4A3):c.88-4C>T rs148393022 0.00744
NM_001042492.3(NF1):c.7322-17C>T rs17884859 0.00744
NM_001458.5(FLNC):c.3852C>T (p.Gly1284=) rs111337293 0.00743
NM_001458.5(FLNC):c.4289-4A>C rs140031589 0.00743
NM_006939.4(SOS2):c.3075+7C>T rs144391749 0.00743
NM_005188.4(CBL):c.513T>C (p.Ser171=) rs2227987 0.00741
NM_024685.4(BBS10):c.424G>A (p.Asp142Asn) rs142863601 0.00738
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) rs12324002 0.00737
NM_012186.3(FOXE3):c.618C>G (p.Ala206=) rs189628587 0.00737
NM_005751.5(AKAP9):c.9929G>A (p.Arg3310Gln) rs78351282 0.00735
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427 0.00734
NM_000243.3(MEFV):c.1503C>T (p.Arg501=) rs76464258 0.00733
NM_032588.4(TRIM63):c.135G>C (p.Arg45=) rs61760891 0.00733
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=) rs73202048 0.00732
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=) rs35015603 0.00732
NM_014476.6(PDLIM3):c.162C>T (p.Gly54=) rs112661328 0.00729
NM_000170.3(GLDC):c.2380G>A (p.Ala794Thr) rs141933811 0.00728
NM_002471.4(MYH6):c.4206C>T (p.Ala1402=) rs111638554 0.00728
NM_000497.4(CYP11B1):c.243C>T (p.Tyr81=) rs9657022 0.00726
NM_144670.6(A2ML1):c.3686= (p.His1229=) rs10219561 0.00725
NM_000152.5(GAA):c.2400C>T (p.Ser800=) rs115705591 0.00724
NM_006073.4(TRDN):c.1871-15G>A rs59935057 0.00724
NM_138694.4(PKHD1):c.10515C>A (p.Ser3505Arg) rs139014478 0.00721
NM_005477.3(HCN4):c.1591-19C>A rs41279186 0.00720
NM_001458.5(FLNC):c.6004+11G>A rs117653869 0.00719
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137 0.00715
NM_004006.3(DMD):c.2391T>G (p.Asn797Lys) rs72468681 0.00714
NM_006506.5(RASA2):c.2226-5C>T rs112582979 0.00714
NM_000090.4(COL3A1):c.583-8C>T rs10166835 0.00713
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_139276.3(STAT3):c.711C>T (p.Asp237=) rs17882069 0.00712
NM_001267550.2(TTN):c.50551+20C>T rs67636125 0.00708
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679 0.00707
NM_014244.5(ADAMTS2):c.68T>C (p.Leu23Pro) rs565885690 0.00707
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp) rs3218772 0.00706
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_000093.5(COL5A1):c.787-15G>A rs150200872 0.00704
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=) rs35593170 0.00704
NM_000393.5(COL5A2):c.2554-14A>G rs142429770 0.00703
NM_001267550.2(TTN):c.57462G>A (p.Gln19154=) rs72646832 0.00703
NM_004415.4(DSP):c.2673T>C (p.Tyr891=) rs146407262 0.00703
NM_000218.3(KCNQ1):c.387-17G>A rs28730661 0.00702
NM_001267550.2(TTN):c.24579A>G (p.Thr8193=) rs72648979 0.00702
NM_138694.4(PKHD1):c.8521A>G (p.Met2841Val) rs113562492 0.00702
NM_001267550.2(TTN):c.23177C>T (p.Ser7726Leu) rs17452588 0.00701
NM_001267550.2(TTN):c.24345C>T (p.Ser8115=) rs72648977 0.00701
NM_001035.3(RYR2):c.13260+14A>G rs141528541 0.00700
NM_006939.4(SOS2):c.3489+19C>T rs149825446 0.00700
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser) rs77615401 0.00699
NM_001384140.1(PCDH15):c.4024C>A (p.Gln1342Lys) rs61731387 0.00699
NM_000071.3(CBS):c.829-12C>T rs75616587 0.00698
NM_001035.3(RYR2):c.7342+16A>G rs76678214 0.00698
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=) rs113510895 0.00698
NM_001267550.2(TTN):c.45328G>A (p.Asp15110Asn) rs17354992 0.00698
NM_001267550.2(TTN):c.39183T>A (p.Pro13061=) rs12474306 0.00697
NM_001267550.2(TTN):c.56529G>A (p.Thr18843=) rs72646827 0.00697
NM_001267550.2(TTN):c.32722+9G>A rs148231130 0.00695
NM_000059.4(BRCA2):c.517-19C>T rs11571623 0.00693
NM_000075.4(CDK4):c.696G>A (p.Leu232=) rs2227953 0.00692
NM_001267550.2(TTN):c.43596T>C (p.Asn14532=) rs16866423 0.00691
NM_006361.6(HOXB13):c.330C>A (p.Pro110=) rs33993186 0.00691
NM_000075.4(CDK4):c.447A>G (p.Thr149=) rs2069501 0.00690
NM_003002.4(SDHD):c.312C>T (p.His104=) rs61734352 0.00690
NM_152564.5(VPS13B):c.2934+14A>T rs187151724 0.00690
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722 0.00690
NM_001378454.1(ALMS1):c.10628C>G (p.Thr3543Ser) rs45501594 0.00688
NM_000393.5(COL5A2):c.249C>T (p.Ala83=) rs142388534 0.00687
NM_017617.5(NOTCH1):c.663C>T (p.Pro221=) rs11574872 0.00685
NM_022114.4(PRDM16):c.2091A>T (p.Ala697=) rs35184988 0.00685
NM_006514.4(SCN10A):c.45C>T (p.Arg15=) rs34314583 0.00684
NM_001267550.2(TTN):c.45083-10A>G rs72677222 0.00683
NM_000093.5(COL5A1):c.1566G>A (p.Leu522=) rs61737941 0.00682
NM_001267550.2(TTN):c.99111T>C (p.Tyr33037=) rs77257306 0.00682
NM_000088.4(COL1A1):c.904-9G>T rs141726413 0.00680
NM_000337.6(SGCD):c.507G>A (p.Ala169=) rs10071079 0.00680
NM_003597.5(KLF11):c.429C>T (p.Ala143=) rs113903638 0.00679
NM_006231.4(POLE):c.1470C>T (p.Asp490=) rs5744777 0.00679
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304 0.00678
NM_000264.5(PTCH1):c.1119C>T (p.Tyr373=) rs2066831 0.00677
NM_004304.5(ALK):c.2175C>T (p.Ile725=) rs57881134 0.00677
NM_000219.6(KCNE1):c.84G>A (p.Ser28=) rs17173510 0.00676
NM_000098.3(CPT2):c.302C>T (p.Ala101Val) rs75939866 0.00675
NM_001267550.2(TTN):c.16303G>A (p.Val5435Met) rs72648937 0.00675
NM_000264.5(PTCH1):c.1074T>C (p.His358=) rs2066832 0.00674
NM_001148.6(ANK2):c.2178+18C>T rs45447896 0.00674
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265 0.00674
NM_001042492.3(NF1):c.3496+19T>C rs9890283 0.00673
NM_001267550.2(TTN):c.81057T>C (p.Thr27019=) rs114908705 0.00671
NM_002691.4(POLD1):c.2546G>A (p.Arg849His) rs3218775 0.00670
NM_001267550.2(TTN):c.42156C>T (p.Ile14052=) rs76815324 0.00667
NM_001267550.2(TTN):c.95259C>T (p.Leu31753=) rs72648258 0.00667
NM_005901.6(SMAD2):c.997+18T>G rs139429167 0.00667
NM_002474.3(MYH11):c.4791+4C>T rs142108062 0.00664
NM_004937.3(CTNS):c.108C>T (p.Asn36=) rs117404824 0.00664
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_017636.4(TRPM4):c.301G>A (p.Ala101Thr) rs113984787 0.00662
NM_017636.4(TRPM4):c.306T>G (p.Val102=) rs111783027 0.00662
NM_022114.4(PRDM16):c.38-15C>T rs9662053 0.00658
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048 0.00655
NM_001042492.3(NF1):c.6393C>T (p.His2131=) rs17881788 0.00655
NM_001267550.2(TTN):c.22074A>G (p.Lys7358=) rs34562585 0.00654
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954 0.00654
NM_000152.5(GAA):c.1726G>A (p.Gly576Ser) rs1800307 0.00653
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_001943.5(DSG2):c.2647T>C (p.Ser883Pro) rs34417028 0.00652
NM_006073.4(TRDN):c.1538-13T>G rs55704802 0.00651
NM_006514.4(SCN10A):c.3087+15C>T rs140924179 0.00650
NM_001943.5(DSG2):c.2708C>T (p.Thr903Ile) rs34065672 0.00649
NM_004655.4(AXIN2):c.2282C>A (p.Ala761Asp) rs79732150 0.00649
NM_017617.5(NOTCH1):c.5019-13A>G rs148002954 0.00648
NM_000090.4(COL3A1):c.1816-19T>C rs114299724 0.00647
NM_000215.4(JAK3):c.452C>G (p.Pro151Arg) rs55778349 0.00647
NM_004304.5(ALK):c.2133C>T (p.Ser711=) rs77102810 0.00647
NM_001164508.2(NEB):c.8189A>G (p.Asp2730Gly) rs76767949 0.00646
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser) rs34135067 0.00646
NM_017617.5(NOTCH1):c.5168-10G>A rs199903655 0.00645
NM_001267550.2(TTN):c.53288-18G>T rs72646810 0.00643
NM_000238.4(KCNH2):c.1558-5C>T rs114186001 0.00642
NM_000245.4(MET):c.948A>G (p.Ile316Met) rs35225896 0.00641
NM_000337.6(SGCD):c.294+8T>C rs11748588 0.00640
NM_001267550.2(TTN):c.33063A>G (p.Glu11021=) rs115744476 0.00640
NM_002317.7(LOX):c.476C>A (p.Pro159Gln) rs41407546 0.00640
NM_144670.6(A2ML1):c.483+7G>A rs73037000 0.00640
NM_001458.5(FLNC):c.352+10G>A rs79489893 0.00639
NM_000152.5(GAA):c.852G>A (p.Ala284=) rs142626724 0.00638
NM_004982.4(KCNJ8):c.793T>C (p.Leu265=) rs16924297 0.00638
NM_017617.5(NOTCH1):c.6777T>C (p.Gly2259=) rs61751490 0.00638
NM_001267550.2(TTN):c.19383T>C (p.Asn6461=) rs76771282 0.00636
NM_001613.4(ACTA2):c.455-17G>A rs3816245 0.00636
NM_001999.4(FBN2):c.8154C>T (p.Leu2718=) rs34119447 0.00635
NM_005477.3(HCN4):c.36C>G (p.Leu12=) rs201193660 0.00635
NM_005751.5(AKAP9):c.3827G>A (p.Arg1276Gln) rs146797353 0.00635
NM_000093.5(COL5A1):c.1062C>T (p.Asp354=) rs61737708 0.00634
NM_022114.4(PRDM16):c.2673G>A (p.Pro891=) rs3819970 0.00634
NM_138694.4(PKHD1):c.4343A>G (p.Glu1448Gly) rs116809571 0.00632
NM_152564.5(VPS13B):c.2451T>C (p.His817=) rs114120664 0.00630
NM_152594.3(SPRED1):c.583-7A>G rs115970207 0.00630
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met) rs75548401 0.00627
NM_005732.4(RAD50):c.3037-3T>C rs115737081 0.00627
NM_199242.3(UNC13D):c.753+3G>A rs116229331 0.00627
NM_004006.3(DMD):c.7476T>C (p.Val2492=) rs142153424 0.00626
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=) rs41312170 0.00625
NM_152384.3(BBS5):c.620G>A (p.Arg207His) rs35487251 0.00625
NM_001034853.2(RPGR):c.778+13T>A rs199625400 0.00624
NM_001110556.2(FLNA):c.5814C>T (p.Tyr1938=) rs140084263 0.00624
NM_014797.3(ZBTB24):c.146G>A (p.Arg49Gln) rs147441359 0.00624
NM_022437.3(ABCG8):c.154C>G (p.Leu52Val) rs142250628 0.00624
NM_003036.4(SKI):c.1974C>T (p.Arg658=) rs201895384 0.00623
NM_004006.3(DMD):c.3787-18T>C rs72468656 0.00621
NM_012452.3(TNFRSF13B):c.61+10C>T rs148297590 0.00621
NM_000061.3(BTK):c.141+11C>T rs138411530 0.00620
NM_000071.3(CBS):c.1145+7C>T rs201158177 0.00620
NM_004100.5(EYA4):c.111T>C (p.Ser37=) rs35863035 0.00620
NM_000287.4(PEX6):c.2770G>T (p.Ala924Ser) rs34551839 0.00619
NM_000243.3(MEFV):c.*9C>T rs11466048 0.00618
NM_024685.4(BBS10):c.1631A>G (p.Asn544Ser) rs34737974 0.00618
NM_000207.3(INS):c.188-16C>T rs5507 0.00616
NM_001999.4(FBN2):c.629-9A>G rs56025995 0.00616
NM_000071.3(CBS):c.573G>A (p.Thr191=) rs73906420 0.00615
NM_001267550.2(TTN):c.81558T>C (p.Asn27186=) rs56181243 0.00615
NM_004304.5(ALK):c.1464C>T (p.Gly488=) rs56165377 0.00615
NM_001267550.2(TTN):c.101212C>T (p.Arg33738Cys) rs56273463 0.00613
NM_001148.6(ANK2):c.1881+8C>G rs74976371 0.00612
NM_001148.6(ANK2):c.1995A>G (p.Pro665=) rs45442693 0.00612
NM_139276.3(STAT3):c.1381G>C (p.Val461Leu) rs149214040 0.00612
NM_000361.3(THBD):c.1092G>A (p.Glu364=) rs73901577 0.00611
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_001148.6(ANK2):c.1245A>G (p.Glu415=) rs34145832 0.00608
NM_001267550.2(TTN):c.83063G>A (p.Arg27688His) rs185002960 0.00608
NM_031885.5(BBS2):c.*13C>T rs141170836 0.00607
NM_206933.4(USH2A):c.9262G>A (p.Glu3088Lys) rs56056328 0.00606
NM_022725.4(FANCF):c.373G>A (p.Asp125Asn) rs61752920 0.00605
NM_006231.4(POLE):c.776G>A (p.Arg259His) rs61732929 0.00604
NM_001035.3(RYR2):c.14299-12A>G rs41267519 0.00603
NM_001037.5(SCN1B):c.-9C>A rs66671189 0.00603
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00601
NM_006019.4(TCIRG1):c.479G>A (p.Gly160Glu) rs186758849 0.00601
NM_001267550.2(TTN):c.45350-13T>C rs113084617 0.00600
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile) rs141159831 0.00600
NM_001458.5(FLNC):c.-12G>T rs199842696 0.00599
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195 0.00598
NM_001267550.2(TTN):c.90638T>C (p.Ile30213Thr) rs114026724 0.00598
NM_004646.4(NPHS1):c.563A>T (p.Asn188Ile) rs145125791 0.00598
NM_000059.4(BRCA2):c.9257-16T>C rs11571818 0.00597
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_000143.4(FH):c.53C>T (p.Pro18Leu) rs201887750 0.00597
NM_004100.5(EYA4):c.103C>T (p.Leu35=) rs35562371 0.00597
NM_000203.5(IDUA):c.296C>T (p.Thr99Ile) rs147490060 0.00596
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884 0.00596
NM_004415.4(DSP):c.1702-18C>T rs148417566 0.00594
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln) rs61729366 0.00592
NM_001267550.2(TTN):c.88858C>T (p.Leu29620=) rs115070904 0.00590
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784 0.00587
NM_005502.4(ABCA1):c.6729C>A (p.Asp2243Glu) rs34879708 0.00586
NM_017780.4(CHD7):c.309G>A (p.Ser103=) rs115293759 0.00586
NM_206933.4(USH2A):c.7685T>C (p.Val2562Ala) rs56385601 0.00586
NM_000719.7(CACNA1C):c.3114G>C (p.Leu1038=) rs114139824 0.00585
NM_000182.5(HADHA):c.573+8dup rs112196218 0.00584
NM_020297.4(ABCC9):c.2643+17G>C rs151310554 0.00584
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809 0.00583
NM_172351.3(CD46):c.417A>G (p.Leu139=) rs12126088 0.00583
NM_000249.4(MLH1):c.589-15C>T rs55658850 0.00582
NM_181703.4(GJA5):c.369C>T (p.Tyr123=) rs2232191 0.00582
NM_000093.5(COL5A1):c.*14C>T rs12553247 0.00580
NM_000170.3(GLDC):c.871T>G (p.Cys291Gly) rs141014950 0.00580
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) rs72554028 0.00578
NM_001103.4(ACTN2):c.1371C>T (p.Arg457=) rs114008185 0.00577
NM_004304.5(ALK):c.1719C>T (p.Thr573=) rs74830770 0.00577
NM_000335.5(SCN5A):c.1587T>C (p.Ile529=) rs45624133 0.00575
NM_001134363.3(RBM20):c.1881-3C>T rs138436392 0.00575
NM_053025.4(MYLK):c.5079G>A (p.Lys1693=) rs141467675 0.00575
NM_001677.4(ATP1B1):c.600A>C (p.Pro200=) rs61803314 0.00574
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792 0.00573
NM_002471.4(MYH6):c.2579G>A (p.Arg860His) rs115845031 0.00573
NM_014908.4(DOLK):c.1dup (p.Met1fs) rs531969689 0.00573
NM_001369369.1(FOXN1):c.1215C>T (p.Ser405=) rs116778145 0.00572
NM_138694.4(PKHD1):c.2279+13T>G rs188914598 0.00572
NM_000543.5(SMPD1):c.1071C>T (p.Ala357=) rs72896268 0.00571
NM_000321.3(RB1):c.2521-11G>A rs4151624 0.00570
NM_000492.4(CFTR):c.3285A>T (p.Thr1095=) rs1800118 0.00570
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=) rs2279582 0.00570
NM_003036.4(SKI):c.1446G>A (p.Ala482=) rs114345135 0.00570
NM_004341.5(CAD):c.4930T>C (p.Phe1644Leu) rs144692793 0.00569
NM_013975.4(LIG3):c.2367C>T (p.Phe789=) rs114522796 0.00569
NM_206933.4(USH2A):c.2522C>A (p.Ser841Tyr) rs111033282 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_001378454.1(ALMS1):c.10272G>C (p.Lys3424Asn) rs34398445 0.00566
NM_032601.4(MCEE):c.427C>T (p.Arg143Cys) rs138436961 0.00566
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val) rs2020908 0.00565
NM_002709.3(PPP1CB):c.52+15G>T rs113766757 0.00563
NM_007373.4(SHOC2):c.1423-7C>T rs180671383 0.00563
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile) rs34139502 0.00561
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=) rs35980907 0.00561
NM_014244.5(ADAMTS2):c.1629+9G>A rs115550684 0.00560
NM_024685.4(BBS10):c.966T>C (p.Tyr322=) rs139053702 0.00560
NM_001267550.2(TTN):c.24471C>T (p.Gly8157=) rs113391261 0.00559
NM_001267550.2(TTN):c.82740G>A (p.Thr27580=) rs56345408 0.00559
NM_000432.4(MYL2):c.381G>A (p.Ala127=) rs2233261 0.00558
NM_053025.4(MYLK):c.3987T>G (p.Asp1329Glu) rs9844788 0.00558
NM_004304.5(ALK):c.267C>A (p.Gly89=) rs192127241 0.00557
NM_005502.4(ABCA1):c.2814G>A (p.Gly938=) rs9282546 0.00556
NM_201596.3(CACNB2):c.*16_*17insC rs753335762 0.00556
NM_000359.3(TGM1):c.1559A>G (p.Glu520Gly) rs142404759 0.00555
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984 0.00554
NM_002230.4(JUP):c.1774-13C>T rs116772523 0.00553
NM_001267550.2(TTN):c.1079G>C (p.Arg360Thr) rs56128843 0.00552
NM_144670.6(A2ML1):c.3880G>A (p.Val1294Ile) rs61746590 0.00552
NM_053025.4(MYLK):c.5368+13_5368+21del rs146990616 0.00551
NM_138694.4(PKHD1):c.5725C>T (p.Arg1909Trp) rs115338476 0.00551
NM_001164508.2(NEB):c.5905T>C (p.Tyr1969His) rs34532796 0.00550
NM_001943.5(DSG2):c.473T>G (p.Val158Gly) rs191143292 0.00550
NM_006231.4(POLE):c.6494G>A (p.Arg2165His) rs5745068 0.00550
NM_006767.4(LZTR1):c.1209C>T (p.Phe403=) rs145833752 0.00550
NM_000391.4(TPP1):c.185C>T (p.Ser62Leu) rs2734715 0.00549
NM_144670.6(A2ML1):c.633G>A (p.Val211=) rs79151946 0.00549
NM_005591.4(MRE11):c.2092A>G (p.Met698Val) rs1805362 0.00548
NM_005188.4(CBL):c.1485G>A (p.Pro495=) rs2229072 0.00547
NM_001267550.2(TTN):c.6353T>C (p.Ile2118Thr) rs56404770 0.00546
NM_032588.4(TRIM63):c.1041G>A (p.Gly347=) rs61749354 0.00546
NM_001267550.2(TTN):c.29178C>A (p.Ile9726=) rs72650003 0.00545
NM_001267550.2(TTN):c.32624C>T (p.Pro10875Leu) rs72650031 0.00544
NM_000093.5(COL5A1):c.4231-12G>A rs188473199 0.00543
NM_001159699.2(FHL1):c.204+5C>T rs182106777 0.00542
NM_005585.5(SMAD6):c.711C>T (p.His237=) rs144415105 0.00542
NM_002234.4(KCNA5):c.1020C>T (p.Leu340=) rs72546671 0.00541
NM_004004.6(GJB2):c.-23+12G>A rs397516866 0.00541
NM_000059.4(BRCA2):c.-11C>T rs76874770 0.00539
NM_001037.5(SCN1B):c.300C>T (p.Asp100=) rs16969927 0.00539
NM_001035.3(RYR2):c.14809-15C>G rs790897 0.00538
NM_001148.6(ANK2):c.2278-11G>A rs146312675 0.00538
NM_005359.6(SMAD4):c.*11C>T rs11663402 0.00538
NM_005585.5(SMAD6):c.1167C>T (p.Phe389=) rs12591946 0.00538
NM_006393.3(NEBL):c.1117-6T>G rs71578938 0.00538
NM_006767.4(LZTR1):c.320+12C>T rs73879461 0.00538
NM_000049.4(ASPA):c.703G>A (p.Glu235Lys) rs149842031 0.00537
NM_022114.4(PRDM16):c.3369C>T (p.Asp1123=) rs370420046 0.00537
NM_003073.5(SMARCB1):c.438A>G (p.Pro146=) rs35105793 0.00536
NM_001267550.2(TTN):c.42024+6T>C rs140002940 0.00535
NM_001267550.2(TTN):c.39709+6C>T rs72650067 0.00533
NM_000275.3(OCA2):c.79G>A (p.Gly27Arg) rs61738394 0.00532
NM_001079.4(ZAP70):c.890-16C>T rs191682943 0.00532
NM_001267550.2(TTN):c.104560G>C (p.Val34854Leu) rs55866005 0.00531
NM_001267550.2(TTN):c.10242C>T (p.Tyr3414=) rs45447891 0.00530
NM_000158.4(GBE1):c.2017G>A (p.Ala673Thr) rs193074572 0.00529
NM_002880.4(RAF1):c.208-17T>C rs3730268 0.00529
NM_001378454.1(ALMS1):c.12362+18A>T rs535484933 0.00525
NM_000137.4(FAH):c.315-14G>A rs139830755 0.00521
NM_006767.4(LZTR1):c.201-8C>T rs183476594 0.00520
NM_032578.4(MYPN):c.3493+11C>T rs113674647 0.00520
NM_006258.4(PRKG1):c.1080T>C (p.Tyr360=) rs141218982 0.00519
NM_138694.4(PKHD1):c.9829+10T>G rs143526199 0.00518
NM_174936.4(PCSK9):c.1869C>T (p.Thr623=) rs28362285 0.00518
NM_001267550.2(TTN):c.79319G>A (p.Arg26440His) rs56044609 0.00516
NM_000093.5(COL5A1):c.4393-17C>T rs141152269 0.00515
NM_007294.4(BRCA1):c.5406+8T>C rs55946644 0.00514
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890 0.00513
NM_000110.4(DPYD):c.775A>G (p.Lys259Glu) rs45589337 0.00513
NM_000093.5(COL5A1):c.5137-11T>C rs183495554 0.00512
NM_001267550.2(TTN):c.45408G>T (p.Lys15136Asn) rs72677225 0.00512
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_024529.5(CDC73):c.1185A>G (p.Gln395=) rs116358657 0.00511
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_000335.5(SCN5A):c.3508+10C>T rs41258454 0.00510
NM_000314.6(PTEN):c.-1059C>G rs144620057 0.00509
NM_014697.3(NOS1AP):c.1217C>T (p.Ala406Val) rs34398505 0.00508
NM_024312.5(GNPTAB):c.137G>A (p.Arg46Gln) rs117566084 0.00508
NM_002230.4(JUP):c.777C>T (p.Gly259=) rs34890640 0.00507
NM_020297.4(ABCC9):c.2644-19G>A rs73254534 0.00507
NM_001103.4(ACTN2):c.870G>A (p.Ala290=) rs116464082 0.00506
NM_020632.3(ATP6V0A4):c.2035G>T (p.Asp679Tyr) rs150777839 0.00506
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703 0.00504
NM_017617.5(NOTCH1):c.7209G>A (p.Gln2403=) rs61751486 0.00503
NM_000057.4(BLM):c.3960C>T (p.Pro1320=) rs56009845 0.00502
NM_012096.3(APPL1):c.256T>C (p.Leu86=) rs147166062 0.00501
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly) rs2274083 0.00499
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=) rs56056823 0.00499
NM_001267550.2(TTN):c.47271T>C (p.Asp15757=) rs76081119 0.00498
NM_006231.4(POLE):c.1359+9G>A rs75135381 0.00498
NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe) rs117447608 0.00497
NM_000057.4(BLM):c.615G>A (p.Lys205=) rs28903082 0.00496
NM_006915.3(RP2):c.260C>T (p.Thr87Ile) rs147783915 0.00496
NM_001360.3(DHCR7):c.99-10G>A rs189549129 0.00495
NM_000053.4(ATP7B):c.*15C>T rs73498144 0.00493
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802 0.00493
NM_001035.3(RYR2):c.1292+20C>T rs182050281 0.00493
NM_016203.4(PRKAG2):c.639C>T (p.Thr213=) rs140001300 0.00493
NM_000492.4(CFTR):c.1581A>G (p.Glu527=) rs1800094 0.00491
NM_002471.4(MYH6):c.330G>A (p.Ala110=) rs77679218 0.00490
NM_144670.6(A2ML1):c.3252C>T (p.His1084=) rs61745125 0.00490
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_000093.5(COL5A1):c.5137-12C>T rs191758714 0.00488
NM_000335.5(SCN5A):c.3360G>A (p.Ala1120=) rs9858585 0.00488
NM_005373.3(MPL):c.1565+5C>T rs41269541 0.00488
NM_174936.4(PCSK9):c.1431C>T (p.Cys477=) rs28362268 0.00488
NM_016169.4(SUFU):c.1291T>C (p.Leu431=) rs141950577 0.00487
NM_017849.4(TMEM127):c.409+7C>T rs189327749 0.00487
NM_000030.3(AGXT):c.166-14C>T rs180177176 0.00486
NM_002691.4(POLD1):c.1275C>T (p.Ala425=) rs3219392 0.00486
NM_004006.3(DMD):c.10789C>T (p.Leu3597=) rs1800281 0.00486
NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261 0.00485
NM_001308093.3(GATA4):c.1150-20G>A rs114345849 0.00483
NM_001384140.1(PCDH15):c.3983+12T>C rs149867749 0.00483
NM_001378454.1(ALMS1):c.11872+18G>A rs139647347 0.00482
NM_138694.4(PKHD1):c.6777C>T (p.Phe2259=) rs140065359 0.00482
NM_000393.5(COL5A2):c.2769+19A>T rs111609220 0.00481
NM_001267550.2(TTN):c.68079G>A (p.Thr22693=) rs11904444 0.00481
NM_000071.3(CBS):c.531+11G>A rs186114513 0.00479
NM_000393.5(COL5A2):c.2716-4C>T rs111644889 0.00479
NM_017617.5(NOTCH1):c.873C>T (p.Tyr291=) rs143654474 0.00477
NM_001377.3(DYNC2H1):c.3097-4A>G rs368802969 0.00476
NM_016599.5(MYOZ2):c.76+19C>T rs77591499 0.00476
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=) rs61742801 0.00476
NM_004415.4(DSP):c.2630+18C>T rs145963404 0.00475
NM_000152.5(GAA):c.546+18G>A rs190153982 0.00474
NM_145046.5(CALR3):c.850G>A (p.Asp284Asn) rs10404156 0.00473
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_001267550.2(TTN):c.17048A>G (p.Tyr5683Cys) rs72648942 0.00471
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802 0.00471
NM_000453.3(SLC5A5):c.1632C>G (p.Ala544=) rs45531732 0.00469
NM_005732.4(RAD50):c.572C>T (p.Thr191Ile) rs2230017 0.00469
NM_001267550.2(TTN):c.64032C>T (p.Asn21344=) rs72646857 0.00468
NM_001378454.1(ALMS1):c.2764C>T (p.Leu922=) rs143885319 0.00467
NM_000264.5(PTCH1):c.2937C>T (p.Asn979=) rs58629309 0.00466
NM_001378454.1(ALMS1):c.8742A>G (p.Val2914=) rs142611294 0.00466
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys) rs115321485 0.00466
NM_014000.3(VCL):c.1557C>A (p.Ile519=) rs150120464 0.00466
NM_000152.5(GAA):c.859-21G>A rs185883087 0.00465
NM_001148.6(ANK2):c.9061G>A (p.Ala3021Thr) rs74348333 0.00465
NM_024426.6(WT1):c.1114-9T>C rs5030274 0.00465
NM_007294.4(BRCA1):c.5468-10C>A rs8176316 0.00464
NM_001267550.2(TTN):c.33742+11A>G rs72650042 0.00463
NM_000360.4(TH):c.16G>A (p.Ala6Thr) rs74555599 0.00462
NM_001035.3(RYR2):c.1863C>T (p.His621=) rs17686573 0.00461
NM_001105206.3(LAMA4):c.888C>T (p.Ser296=) rs17073495 0.00461
NM_000152.5(GAA):c.2580C>T (p.Asp860=) rs61736894 0.00459
NM_000243.3(MEFV):c.1760-4G>A rs79662406 0.00459
NM_001386795.1(DTNA):c.210G>A (p.Leu70=) rs117571555 0.00459
NM_000098.3(CPT2):c.1578T>C (p.Gly526=) rs113493395 0.00455
NM_003001.5(SDHC):c.354T>C (p.Phe118=) rs61733156 0.00454
NM_005188.4(CBL):c.2710G>A (p.Val904Ile) rs17122769 0.00454
NM_001110556.2(FLNA):c.663C>T (p.Pro221=) rs2073470 0.00452
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu) rs75029862 0.00451
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_000182.5(HADHA):c.1981C>T (p.Leu661=) rs142348718 0.00450
NM_007078.3(LDB3):c.1014A>G (p.Thr338=) rs150209221 0.00450
NM_017636.4(TRPM4):c.3405A>C (p.Ala1135=) rs144647383 0.00450
NM_000305.3(PON2):c.456G>A (p.Leu152=) rs116520226 0.00449
NM_000719.7(CACNA1C):c.5064C>T (p.Ser1688=) rs139872789 0.00449
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_001164508.2(NEB):c.18693G>C (p.Ala6231=) rs141338915 0.00448
NM_020297.4(ABCC9):c.285-16G>A rs144825585 0.00448
NM_001360.3(DHCR7):c.1008C>T (p.His336=) rs75225632 0.00447
NM_001035.3(RYR2):c.14029C>T (p.Leu4677=) rs112864477 0.00446
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=) rs201173693 0.00446
NM_001267550.2(TTN):c.101697C>T (p.Asp33899=) rs114267234 0.00446
NM_000218.3(KCNQ1):c.1514+18C>T rs12577654 0.00444
NM_000383.4(AIRE):c.1401-11C>T rs371136111 0.00444
NM_002769.5(PRSS1):c.567T>C (p.Leu189=) rs377124851 0.00444
NM_006231.4(POLE):c.6817A>T (p.Thr2273Ser) rs73481453 0.00444
NM_000090.4(COL3A1):c.1659T>A (p.Pro553=) rs41263751 0.00443
NM_000093.5(COL5A1):c.2799+13C>A rs75668257 0.00443
NM_001142800.2(EYS):c.8429C>T (p.Thr2810Ile) rs144513453 0.00443
NM_001267550.2(TTN):c.3668C>T (p.Ala1223Val) rs78269740 0.00443
NM_002471.4(MYH6):c.2168+17C>A rs192337153 0.00443
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=) rs116703544 0.00442
NM_012281.3(KCND2):c.1116-16T>A rs192275893 0.00442
NM_004281.4(BAG3):c.231G>A (p.Pro77=) rs143752613 0.00441
NM_053025.4(MYLK):c.652C>T (p.Leu218=) rs113035707 0.00441
NM_053025.4(MYLK):c.479C>G (p.Pro160Arg) rs111256888 0.00440
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=) rs111844882 0.00439
NM_005562.3(LAMC2):c.2422C>G (p.Pro808Ala) rs144355456 0.00439
NM_006258.4(PRKG1):c.426C>T (p.Asp142=) rs55754654 0.00439
NM_022114.4(PRDM16):c.1212G>A (p.Thr404=) rs139129844 0.00438
NM_022437.3(ABCG8):c.1506G>A (p.Pro502=) rs145756111 0.00437
NM_000057.4(BLM):c.4076+4T>G rs183176301 0.00436
NM_000138.5(FBN1):c.1746C>T (p.Cys582=) rs112366266 0.00436
NM_000138.5(FBN1):c.3675G>A (p.Pro1225=) rs148147223 0.00436
NM_001134363.3(RBM20):c.2655+15A>G rs187915202 0.00436
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=) rs113115949 0.00435
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=) rs61751545 0.00435
NM_000057.4(BLM):c.410A>G (p.Lys137Arg) rs28384988 0.00434
NM_001999.4(FBN2):c.6000A>G (p.Leu2000=) rs148293104 0.00434
NM_000237.3(LPL):c.430-6C>T rs11570897 0.00432
NM_006506.5(RASA2):c.26C>T (p.Ala9Val) rs200191034 0.00432
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_006514.4(SCN10A):c.4656G>A (p.Ala1552=) rs151182542 0.00431
NM_020778.5(ALPK3):c.1522T>G (p.Cys508Gly) rs114207635 0.00431
NM_000053.4(ATP7B):c.3015C>T (p.Asn1005=) rs74085888 0.00430
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882 0.00430
NM_000090.4(COL3A1):c.3654G>T (p.Pro1218=) rs35759441 0.00430
NM_006412.4(AGPAT2):c.475C>T (p.Arg159Cys) rs142993240 0.00430
NM_016169.4(SUFU):c.210T>C (p.Tyr70=) rs35166585 0.00430
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) rs143044921 0.00430
NM_000179.3(MSH6):c.1345C>T (p.Leu449=) rs3136333 0.00429
NM_001103.4(ACTN2):c.536+10C>T rs141219516 0.00429
NM_020297.4(ABCC9):c.142+15dup rs571187142 0.00428
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886 0.00427
NM_001999.4(FBN2):c.6512-17G>C rs28763932 0.00427
NM_014244.5(ADAMTS2):c.1458C>T (p.Tyr486=) rs61757478 0.00427
NM_001042492.3(NF1):c.2985G>C (p.Leu995=) rs17881467 0.00426
NM_004525.3(LRP2):c.9613A>G (p.Asn3205Asp) rs35734447 0.00426
NM_016169.4(SUFU):c.12G>A (p.Leu4=) rs189234140 0.00425
NM_000249.4(MLH1):c.545+20A>T rs121909453 0.00424
NM_000257.4(MYH7):c.3972+16G>A rs114978322 0.00424
NM_002317.7(LOX):c.740+6G>A rs41478244 0.00424
NM_005502.4(ABCA1):c.634T>A (p.Ser212Thr) rs115216814 0.00424
NM_000719.7(CACNA1C):c.5091+18G>A rs143343491 0.00423
NM_007373.4(SHOC2):c.1594A>G (p.Ser532Gly) rs145463534 0.00423
NM_181486.4(TBX5):c.787G>A (p.Val263Met) rs147405081 0.00423
NM_001378454.1(ALMS1):c.11821G>A (p.Gly3941Ser) rs61741524 0.00422
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=) rs28763931 0.00422
NM_005732.4(RAD50):c.2910C>T (p.Asp970=) rs148269640 0.00422
NM_017636.4(TRPM4):c.618G>A (p.Ser206=) rs142788545 0.00422
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) rs2229035 0.00421
NM_000382.3(ALDH3A2):c.28C>G (p.Gln10Glu) rs72547554 0.00421
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869 0.00421
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569 0.00420
NM_013266.4(CTNNA3):c.2553G>A (p.Lys851=) rs115814032 0.00420
NM_000170.3(GLDC):c.1705G>A (p.Ala569Thr) rs151268759 0.00419
NM_000382.3(ALDH3A2):c.1270C>T (p.Pro424Ser) rs61737992 0.00419
NM_001267550.2(TTN):c.25008C>T (p.Cys8336=) rs116378128 0.00419
NM_003098.3(SNTA1):c.701+10G>A rs6057846 0.00419
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_144670.6(A2ML1):c.3550A>T (p.Ser1184Cys) rs143603619 0.00419
NM_206933.4(USH2A):c.14074G>A (p.Gly4692Arg) rs45549044 0.00419
NM_003036.4(SKI):c.1834C>T (p.Leu612=) rs35833638 0.00418
NM_033380.3(COL4A5):c.1289C>A (p.Ala430Asp) rs142883891 0.00418
NM_001005242.3(PKP2):c.1460T>G (p.Ile487Ser) rs147240502 0.00417
NM_000249.4(MLH1):c.453+25A>G rs4647246 0.00414
NM_001458.5(FLNC):c.1902G>A (p.Glu634=) rs12536635 0.00414
NM_014000.3(VCL):c.1177-15C>T rs115083446 0.00414
NM_001035.3(RYR2):c.7365C>T (p.Asp2455=) rs72549416 0.00413
NM_002471.4(MYH6):c.4651-12A>C rs193922653 0.00413
NM_000091.5(COL4A3):c.3325C>T (p.Pro1109Ser) rs55816283 0.00412
NM_000182.5(HADHA):c.1690-6G>A rs111662358 0.00412
NM_000520.6(HEXA):c.759G>A (p.Val253=) rs117513345 0.00412
NM_001378454.1(ALMS1):c.4605A>G (p.Gln1535=) rs144720929 0.00412
NM_003924.4(PHOX2B):c.450C>G (p.Arg150=) rs17881486 0.00412
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054 0.00411
NM_001384140.1(PCDH15):c.3502-8C>T rs184144118 0.00411
NM_013266.4(CTNNA3):c.99+11C>T rs115451937 0.00411
NM_020778.5(ALPK3):c.1710T>C (p.Asp570=) rs56005718 0.00411
NM_030777.4(SLC2A10):c.366C>T (p.Tyr122=) rs34990188 0.00411
NM_001148.6(ANK2):c.4404+16T>C rs2272233 0.00409
NM_000335.5(SCN5A):c.717C>T (p.Ile239=) rs41285129 0.00407
NM_004006.3(DMD):c.7542+13A>G rs72466585 0.00407
NM_005633.4(SOS1):c.345+15C>T rs75937422 0.00407
NM_138694.4(PKHD1):c.9415G>T (p.Asp3139Tyr) rs45503297 0.00407
NM_000293.3(PHKB):c.500A>G (p.Tyr167Cys) rs151155518 0.00406
NM_053025.4(MYLK):c.4349G>A (p.Arg1450Gln) rs41366751 0.00406
NM_000170.3(GLDC):c.2113G>A (p.Val705Met) rs147275962 0.00405
NM_000117.3(EMD):c.465C>T (p.Tyr155=) rs143447675 0.00404
NM_000383.4(AIRE):c.595G>A (p.Val199Ile) rs74162061 0.00404
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe) rs16955851 0.00404
NM_053025.4(MYLK):c.1516A>G (p.Arg506Gly) rs77323602 0.00404
NM_000784.4(CYP27A1):c.673C>T (p.Arg225Cys) rs114768494 0.00403
NM_001148.6(ANK2):c.4744C>T (p.Arg1582Trp) rs35249198 0.00403
NM_001386795.1(DTNA):c.1993+7T>C rs138590000 0.00403
NM_001458.5(FLNC):c.1549+15C>A rs181134489 0.00403
NM_006231.4(POLE):c.6766G>A (p.Gly2256Arg) rs116323660 0.00402
NM_000433.4(NCF2):c.1360C>T (p.Pro454Ser) rs55761650 0.00401
NM_017617.5(NOTCH1):c.62-8C>T rs202023246 0.00401
NM_001267550.2(TTN):c.72132T>C (p.Gly24044=) rs56169243 0.00400
NM_053025.4(MYLK):c.422+14G>C rs146112057 0.00400
NM_000432.4(MYL2):c.170-19T>C rs115522476 0.00399
NM_001035.3(RYR2):c.7038A>C (p.Ala2346=) rs116601686 0.00399
NM_022132.5(MCCC2):c.282-7G>A rs115078899 0.00399
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=) rs61751488 0.00398
NM_144670.6(A2ML1):c.*1+12G>A rs115808815 0.00398
NM_001035.3(RYR2):c.7488C>T (p.Leu2496=) rs143906555 0.00397
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_004655.4(AXIN2):c.2109G>A (p.Arg703=) rs116525755 0.00396
NM_014697.3(NOS1AP):c.1434G>C (p.Ser478=) rs115433966 0.00395
NM_001378454.1(ALMS1):c.6007A>G (p.Ile2003Val) rs7587103 0.00394
NM_004655.4(AXIN2):c.1410C>T (p.His470=) rs149483825 0.00394
NM_006270.5(RRAS):c.397G>A (p.Asp133Asn) rs61760904 0.00394
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=) rs2066733 0.00392
NM_001134363.3(RBM20):c.1275+13A>G rs373230569 0.00392
NM_001201543.2(FAM161A):c.1133T>G (p.Leu378Arg) rs187695569 0.00389
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser) rs111966833 0.00389
NM_031885.5(BBS2):c.1110T>C (p.Ala370=) rs148990271 0.00389
NM_001374385.1(ATP8B1):c.1177A>G (p.Ile393Val) rs34315917 0.00388
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129 0.00388
NM_001042492.3(NF1):c.3198-4T>C rs587782218 0.00387