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: 6282
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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_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_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_017668.3(NDE1):c.948-5739G>A 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_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_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_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_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_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_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_022042.4(SLC26A1):c.*878G>A 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_017668.3(NDE1):c.*384C>T 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_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_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_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_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_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_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_004937.3(CTNS):c.108C>T (p.Asn36=) rs117404824 0.00664
NM_017668.3(NDE1):c.948-3356G>A rs142108062 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_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_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_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_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_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_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_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
NM_004646.4(NPHS1):c.1758-8T>G rs187501631 0.00387
NM_014391.3(ANKRD1):c.148G>C (p.Ala50Pro) rs28730751 0.00387
NM_016938.5(EFEMP2):c.161-10C>T rs2234461 0.00387
NM_001371904.1(APOA5):c.975C>T (p.Ala325=) rs137942813 0.00386
NM_001378969.1(KCND3):c.957C>G (p.Ser319=) rs61733426 0.00386
NM_006767.4(LZTR1):c.2007C>T (p.Ile669=) rs138664443 0.00386
NM_020297.4(ABCC9):c.2631G>A (p.Thr877=) rs139408145 0.00386
NM_175914.5(HNF4A):c.1137C>T (p.Asn379=) rs61737145 0.00384
NM_002474.3(MYH11):c.2520+17A>G rs185697714 0.00383
NM_000057.4(BLM):c.1122T>C (p.His374=) rs28385009 0.00382
NM_006790.3(MYOT):c.1008G>T (p.Val336=) rs142828368 0.00381
NM_014000.3(VCL):c.1542C>T (p.Val514=) rs7904077 0.00380
NM_020778.5(ALPK3):c.2597C>T (p.Thr866Met) rs35292668 0.00380
NM_000057.4(BLM):c.1722A>G (p.Leu574=) rs28385011 0.00379
NM_206933.4(USH2A):c.15433G>A (p.Val5145Ile) rs111033269 0.00379
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile) rs116099212 0.00379
NM_206933.4(USH2A):c.7130A>G (p.Asn2377Ser) rs111033394 0.00378
NM_000631.5(NCF4):c.254C>A (p.Thr85Asn) rs112306225 0.00377
NM_006270.5(RRAS):c.408C>T (p.Pro136=) rs114187560 0.00377
NM_017617.5(NOTCH1):c.4536C>T (p.Ala1512=) rs61751540 0.00377
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_016938.5(EFEMP2):c.138C>T (p.Asp46=) rs2234457 0.00375
NM_016203.4(PRKAG2):c.1593G>A (p.Arg531=) rs148197254 0.00374
NM_020117.11(LARS1):c.245A>G (p.Lys82Arg) rs112954500 0.00374
NM_033118.4(MYLK2):c.1711-20C>G rs189282373 0.00374
NM_001110556.2(FLNA):c.882A>G (p.Thr294=) rs184864998 0.00373
NM_022114.4(PRDM16):c.387+6C>T rs369010644 0.00373
NM_001267550.2(TTN):c.69130C>T (p.Pro23044Ser) rs55980498 0.00372
NM_003060.4(SLC22A5):c.1451-16G>A rs140988771 0.00371
NM_020661.4(AICDA):c.585T>C (p.Thr195=) rs78590060 0.00370
NM_001134363.3(RBM20):c.3452-10C>T rs60618533 0.00369
NM_020117.11(LARS1):c.3077A>G (p.Tyr1026Cys) rs34823161 0.00369
NM_000039.3(APOA1):c.732C>G (p.Pro244=) rs5080 0.00368
NM_002234.4(KCNA5):c.570C>T (p.Asn190=) rs12720444 0.00368
NM_002471.4(MYH6):c.4395G>A (p.Ser1465=) rs74039310 0.00368
NM_005502.4(ABCA1):c.1530A>G (p.Leu510=) rs34590907 0.00367
NM_001035.3(RYR2):c.13566C>T (p.Val4522=) rs57360419 0.00366
NM_003060.4(SLC22A5):c.1249A>G (p.Met417Val) rs139775414 0.00365
NM_025074.7(FRAS1):c.10160T>C (p.Leu3387Pro) rs137982616 0.00365
NM_001267550.2(TTN):c.66160+16G>A rs149714835 0.00364
NM_000051.4(ATM):c.5497-15G>C rs3092828 0.00363
NM_000228.3(LAMB3):c.1439C>T (p.Pro480Leu) rs61734494 0.00363
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly) rs35248744 0.00363
NM_001999.4(FBN2):c.6511+5G>A rs200608284 0.00363
NM_004304.5(ALK):c.4836G>A (p.Lys1612=) rs78174819 0.00363
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403 0.00362
NM_000152.5(GAA):c.447G>A (p.Thr149=) rs2289536 0.00362
NM_003060.4(SLC22A5):c.59T>A (p.Leu20His) rs144020613 0.00362
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368 0.00361
NM_000335.5(SCN5A):c.4434+13C>T rs148598985 0.00361
NM_000548.5(TSC2):c.2031C>T (p.Pro677=) rs45517208 0.00361
NM_001034853.2(RPGR):c.905G>C (p.Cys302Ser) rs62640590 0.00361
NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=) rs73810366 0.00361
NM_000093.5(COL5A1):c.1333-8A>G rs145620416 0.00360
NM_004333.6(BRAF):c.1141-19C>T rs71645959 0.00360
NM_000138.5(FBN1):c.3082+8del rs193922196 0.00359
NM_000199.5(SGSH):c.701C>G (p.Ala234Gly) rs113641837 0.00359
NM_001267550.2(TTN):c.101665G>A (p.Val33889Ile) rs34924609 0.00359
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382 0.00359
NM_014697.3(NOS1AP):c.384C>T (p.Ile128=) rs41271969 0.00358
NM_022124.6(CDH23):c.3074G>A (p.Gly1025Asp) rs143179070 0.00358
NM_000059.4(BRCA2):c.2960A>T (p.Asn987Ile) rs2227944 0.00356
NM_004006.3(DMD):c.3406A>T (p.Thr1136Ser) rs3827462 0.00356
NM_000059.4(BRCA2):c.2786T>C (p.Leu929Ser) rs2227943 0.00355
NM_004004.6(GJB2):c.-6T>A rs148136545 0.00355
NM_201596.3(CACNB2):c.873G>A (p.Leu291=) rs138423466 0.00355
NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser) rs34302553 0.00354
NM_001267550.2(TTN):c.21173G>A (p.Gly7058Asp) rs72648964 0.00354
NM_000237.3(LPL):c.1135A>G (p.Thr379Ala) rs300 0.00353
NM_000719.7(CACNA1C):c.5360C>T (p.Thr1787Met) rs192749597 0.00353
NM_001042492.3(NF1):c.4577+12C>T rs17878332 0.00352
NM_144670.6(A2ML1):c.462+18G>A rs114265494 0.00352
NM_001164508.2(NEB):c.22904G>A (p.Gly7635Glu) rs3732309 0.00351
NM_000152.5(GAA):c.2646+39G>A rs41292410 0.00350
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=) rs45548237 0.00350
NM_006939.4(SOS2):c.1344G>A (p.Leu448=) rs35530861 0.00350
NM_006506.5(RASA2):c.17C>T (p.Pro6Leu) rs201352230 0.00349
NM_000535.7(PMS2):c.1266G>A (p.Glu422=) rs138049175 0.00348
NM_001164508.2(NEB):c.5102T>C (p.Val1701Ala) rs117271684 0.00348
NM_000048.4(ASL):c.556C>A (p.Arg186=) rs111407265 0.00347
NM_022124.6(CDH23):c.3845A>G (p.Asn1282Ser) rs149073355 0.00347
NM_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991 0.00346
NM_000059.4(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659 0.00346
NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met) rs2229817 0.00346
NM_001164508.2(NEB):c.3412A>G (p.Asn1138Asp) rs117048449 0.00346
NM_006231.4(POLE):c.5135C>T (p.Ala1712Val) rs5744950 0.00346
NM_153638.4(PANK2):c.137A>T (p.Asp46Val) rs148036492 0.00346
NM_000156.6(GAMT):c.79T>C (p.Tyr27His) rs200833152 0.00345
NM_020297.4(ABCC9):c.2523C>T (p.Ala841=) rs144537241 0.00345
NM_004281.4(BAG3):c.249C>A (p.His83Gln) rs151331972 0.00344
NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser) rs2234462 0.00344
NM_001267550.2(TTN):c.75441A>G (p.Lys25147=) rs56151652 0.00343
NM_017617.5(NOTCH1):c.2207+10G>A rs191892426 0.00343
NM_006231.4(POLE):c.2468+10C>T rs5744823 0.00342
NM_004281.4(BAG3):c.606G>T (p.Pro202=) rs74157690 0.00341
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=) rs61751538 0.00341
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=) rs148648778 0.00340
NM_001148.6(ANK2):c.9454A>G (p.Thr3152Ala) rs61741040 0.00340
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674 0.00340
NM_001643.2(APOA2):c.247C>T (p.Leu83=) rs5088 0.00339
NM_001999.4(FBN2):c.7824C>T (p.Thr2608=) rs28763922 0.00339
NM_000089.4(COL1A2):c.1036-14G>A rs114322680 0.00338
NM_016938.5(EFEMP2):c.368-18G>A rs80047413 0.00337
NM_174936.4(PCSK9):c.1354+9G>T rs72646516 0.00337
NM_000512.5(GALNS):c.1443C>T (p.Pro481=) rs147536058 0.00336
NM_006393.3(NEBL):c.480+3A>G rs71578983 0.00336
NM_001677.4(ATP1B1):c.222G>A (p.Pro74=) rs144621395 0.00335
NM_003060.4(SLC22A5):c.1368A>G (p.Thr456=) rs142355575 0.00335
NM_003060.4(SLC22A5):c.1590G>T (p.Met530Ile) rs148233131 0.00335
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His) rs34819316 0.00334
NM_001267550.2(TTN):c.10114+5G>A rs115985443 0.00334
NM_017617.5(NOTCH1):c.5226C>T (p.Ala1742=) rs116316039 0.00334
NM_153240.5(NPHP3):c.1189C>T (p.Arg397Cys) rs141477666 0.00334
NM_001035.3(RYR2):c.13740G>A (p.Thr4580=) rs115854664 0.00333
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219 0.00333
NM_002317.7(LOX):c.225C>G (p.Ala75=) rs2278226 0.00333
NM_004484.4(GPC3):c.1285G>A (p.Val429Met) rs11539789 0.00333
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr) rs72648923 0.00332
NM_003476.5(CSRP3):c.508+18C>T rs144404101 0.00332
NM_006412.4(AGPAT2):c.716C>T (p.Ala239Val) rs145975461 0.00332
NM_004006.3(DMD):c.3276+17A>T rs184220727 0.00329
NM_001386795.1(DTNA):c.1435-19T>C rs141620769 0.00328
NM_004281.4(BAG3):c.187C>G (p.Pro63Ala) rs144041999 0.00328
NM_001148.6(ANK2):c.10861C>G (p.Leu3621Val) rs45570339 0.00327
NM_004006.3(DMD):c.5182C>T (p.Arg1728Cys) rs34102501 0.00327
NM_004281.4(BAG3):c.1138C>T (p.Pro380Ser) rs144692954 0.00327
NM_144670.6(A2ML1):c.3789C>G (p.Asn1263Lys) rs144876785 0.00327
NM_001267550.2(TTN):c.9150A>G (p.Thr3050=) rs72647886 0.00326
NM_001384140.1(PCDH15):c.2435T>C (p.Ile812Thr) rs61731363 0.00325
NM_005732.4(RAD50):c.3153G>A (p.Leu1051=) rs35800931 0.00325
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val) rs41561818 0.00325
NM_001134363.3(RBM20):c.2318A>G (p.Lys773Arg) rs181769913 0.00324
NM_001267550.2(TTN):c.58636G>C (p.Glu19546Gln) rs201840554 0.00323
NM_000162.5(GCK):c.1019+18G>A rs150914617 0.00322
NM_003036.4(SKI):c.1410C>T (p.Pro470=) rs150985728 0.00322
NM_004525.3(LRP2):c.2933C>T (p.Thr978Met) rs114842875 0.00322
NM_058216.3(RAD51C):c.186A>G (p.Gln62=) rs28363303 0.00322
NM_000243.3(MEFV):c.1759+8C>T rs77380520 0.00321
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_000070.3(CAPN3):c.1746-20C>G rs201892814 0.00320
NM_006231.4(POLE):c.123G>A (p.Thr41=) rs5744734 0.00320
NM_017617.5(NOTCH1):c.5018+20C>T rs139772121 0.00320
NM_000152.5(GAA):c.2571G>T (p.Leu857=) rs17853996 0.00319
NM_017617.5(NOTCH1):c.1669+13G>A rs147260092 0.00319
NM_001384140.1(PCDH15):c.1039C>T (p.Leu347Phe) rs111033436 0.00318
NM_001267550.2(TTN):c.26466C>G (p.Ala8822=) rs140003804 0.00317
NM_001267550.2(TTN):c.73825G>C (p.Glu24609Gln) rs55762754 0.00317
NM_001643.2(APOA2):c.288G>A (p.Gln96=) rs6413454 0.00317
NM_004281.4(BAG3):c.181-9T>A rs139232658 0.00317
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NM_001110556.2(FLNA):c.1998G>A (p.Ala666=) rs34510365 0.00316
NM_001267550.2(TTN):c.87808G>A (p.Val29270Ile) rs141624266 0.00316
NM_001267550.2(TTN):c.25921+20G>A rs148460010 0.00315
NM_013266.4(CTNNA3):c.2142G>A (p.Glu714=) rs115972723 0.00315
NM_017617.5(NOTCH1):c.2769A>G (p.Thr923=) rs201985795 0.00314
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_001267550.2(TTN):c.31847-17A>G rs72650025 0.00313
NM_138694.4(PKHD1):c.2715+7del rs551015414 0.00313
NM_000093.5(COL5A1):c.573C>T (p.Leu191=) rs116715381 0.00312
NM_001035.3(RYR2):c.11476+15C>T rs192323827 0.00312
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_002474.3(MYH11):c.5757C>T (p.Arg1919=) rs138168272 0.00312
NM_007078.3(LDB3):c.147G>A (p.Val49=) rs45591834 0.00312
NM_001267550.2(TTN):c.30231A>G (p.Pro10077=) rs74324101 0.00310
NM_001378454.1(ALMS1):c.10751A>T (p.Gln3584Leu) rs144486524 0.00310
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_001042492.3(NF1):c.340C>T (p.Leu114=) rs7207410 0.00309
NM_002471.4(MYH6):c.1071C>T (p.Ile357=) rs58131640 0.00309
NM_024675.4(PALB2):c.1419A>C (p.Pro473=) rs62625275 0.00309
NM_170707.4(LMNA):c.811-13T>A rs80356809 0.00309
NM_001035.3(RYR2):c.9666C>T (p.Ala3222=) rs116442127 0.00308
NM_001267550.2(TTN):c.32750C>T (p.Pro10917Leu) rs73973137 0.00308
NM_017617.5(NOTCH1):c.4827C>T (p.Asp1609=) rs113634293 0.00308
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
NM_004006.3(DMD):c.802T>C (p.Leu268=) rs1800264 0.00307
NM_017617.5(NOTCH1):c.5445C>T (p.Asp1815=) rs61751535 0.00307
NM_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879 0.00306
NM_001035.3(RYR2):c.11880+16G>A rs73103904 0.00306
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=) rs11840224 0.00305
NM_000306.4(POU1F1):c.143-4A>T rs35893626 0.00305
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_001613.4(ACTA2):c.417G>A (p.Gln139=) rs111265233 0.00305
NM_000138.5(FBN1):c.2055C>T (p.Cys685=) rs140603 0.00304
NM_000383.4(AIRE):c.1400+10C>T rs372277949 0.00304
NM_005633.4(SOS1):c.2673+14T>C rs183998234 0.00304
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_004484.4(GPC3):c.1167-8T>C rs182950534 0.00303
NM_005751.5(AKAP9):c.8485G>A (p.Glu2829Lys) rs149946443 0.00303
NM_001267550.2(TTN):c.30426C>T (p.Asp10142=) rs147524531 0.00301
NM_001267550.2(TTN):c.61100G>A (p.Arg20367Gln) rs141973925 0.00301
NM_001377540.1(SLMAP):c.2064C>T (p.Thr688=) rs146313438 0.00301
NM_001677.4(ATP1B1):c.-1C>A rs144750047 0.00301
NM_005591.4(MRE11):c.771A>G (p.Glu257=) rs13447632 0.00301
NM_181486.4(TBX5):c.1234G>A (p.Val412Ile) rs114124210 0.00301
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu) rs28903085 0.00300
NM_006767.4(LZTR1):c.2373C>T (p.His791=) rs148993324 0.00299
NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys) rs111033458 0.00299
NM_005751.5(AKAP9):c.2425A>G (p.Ile809Val) rs144615758 0.00298
NM_005751.5(AKAP9):c.7275G>A (p.Gln2425=) rs61757672 0.00298
NM_145261.4(DNAJC19):c.69G>A (p.Leu23=) rs142023670 0.00298
NM_001458.5(FLNC):c.1425C>T (p.Asn475=) rs143610360 0.00297
NM_003238.6(TGFB2):c.272G>A (p.Arg91His) rs10482721 0.00297
NM_001378454.1(ALMS1):c.9886A>G (p.Thr3296Ala) rs58806616 0.00296
NM_002691.4(POLD1):c.783C>T (p.Val261=) rs34269084 0.00296
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_000492.4(CFTR):c.4242+13A>G rs76179227 0.00295
NM_001110556.2(FLNA):c.4233G>A (p.Ser1411=) rs34439033 0.00295
NM_001267550.2(TTN):c.2765G>A (p.Arg922His) rs56046320 0.00295
NM_001384474.1(LOXHD1):c.1570C>T (p.Arg524Cys) rs192376005 0.00295
NM_005477.3(HCN4):c.1371+8C>T rs199838832 0.00295
NM_002317.7(LOX):c.204C>T (p.Arg68=) rs201057539 0.00294
NM_000053.4(ATP7B):c.2355+13T>G rs139211339 0.00293
NM_000238.4(KCNH2):c.3152+12C>A rs72549420 0.00293
NM_000441.2(SLC26A4):c.849G>C (p.Met283Ile) rs146348818 0.00293
NM_001267550.2(TTN):c.23301C>T (p.Ser7767=) rs73038337 0.00293
NM_001267550.2(TTN):c.3409G>C (p.Gly1137Arg) rs72647870 0.00293
NM_005591.4(MRE11):c.121G>A (p.Asp41Asn) rs116679717 0.00293
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=) rs28903094 0.00293
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00293
NM_000059.4(BRCA2):c.4681C>A (p.His1561Asn) rs2219594 0.00292
NM_000117.3(EMD):c.83-13C>G rs201140396 0.00292
NM_000178.4(GSS):c.941C>T (p.Pro314Leu) rs75863437 0.00292
NM_006231.4(POLE):c.846C>T (p.Pro282=) rs5744758 0.00291
NM_017617.5(NOTCH1):c.5384+13C>T rs112582298 0.00291
NM_000059.4(BRCA2):c.7805+6C>G rs81002819 0.00290
NM_001267550.2(TTN):c.69716-5C>G rs72646886 0.00290
NM_002691.4(POLD1):c.1977C>T (p.Ile659=) rs45605236 0.00290
NM_000238.4(KCNH2):c.621C>T (p.Ser207=) rs41314417 0.00289
NM_005502.4(ABCA1):c.2320A>C (p.Thr774Pro) rs35819696 0.00289
NM_005751.5(AKAP9):c.9648A>G (p.Lys3216=) rs146710448 0.00289
NM_017617.5(NOTCH1):c.5673C>T (p.Ser1891=) rs2229972 0.00289
NM_017617.5(NOTCH1):c.7338G>A (p.Leu2446=) rs35320927 0.00289
NM_174936.4(PCSK9):c.1395G>A (p.Ser465=) rs146960060 0.00289
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657 0.00288
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=) rs35986575 0.00288
NM_001267550.2(TTN):c.34864G>A (p.Val11622Ile) rs202014478 0.00288
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780 0.00288
NM_007078.3(LDB3):c.2016C>T (p.Cys672=) rs45578640 0.00288
NM_000548.5(TSC2):c.4269G>A (p.Leu1423=) rs45438898 0.00287
NM_001267550.2(TTN):c.47315G>A (p.Arg15772Gln) rs72677233 0.00287
NM_001267550.2(TTN):c.7061G>A (p.Arg2354His) rs75031300 0.00287
NM_001458.5(FLNC):c.4928-7T>C rs201957008 0.00286
NM_001378454.1(ALMS1):c.1267G>A (p.Val423Ile) rs45630557 0.00285
NM_001386795.1(DTNA):c.243A>G (p.Leu81=) rs146923532 0.00285
NM_000335.5(SCN5A):c.2436+12G>A rs41312419 0.00284
NM_001032283.3(TMPO):c.565+1240G>A rs139700737 0.00284
NM_002471.4(MYH6):c.2071G>A (p.Val691Ile) rs148915045 0.00284
NM_000093.5(COL5A1):c.2058G>A (p.Pro686=) rs143443499 0.00283
NM_001035.3(RYR2):c.1218G>A (p.Ser406=) rs147389346 0.00283
NM_001458.5(FLNC):c.3006G>A (p.Arg1002=) rs61737781 0.00283
NM_006506.5(RASA2):c.1603A>G (p.Ile535Val) rs143035190 0.00283
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546 0.00283
NM_001035.3(RYR2):c.3849A>G (p.Leu1283=) rs143603583 0.00282
NM_001458.5(FLNC):c.7780+10A>G rs201149834 0.00281
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu) rs2229073 0.00281
NM_001164277.2(SLC37A4):c.593A>T (p.Asn198Ile) rs34203644 0.00280
NM_016203.4(PRKAG2):c.1296G>A (p.Thr432=) rs114079815 0.00280
NM_144670.6(A2ML1):c.2032G>T (p.Val678Leu) rs148198269 0.00280
NM_004006.3(DMD):c.4529A>G (p.Lys1510Arg) rs72468638 0.00279
NM_004304.5(ALK):c.3837-9_3837-7dup rs373764155 0.00279
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00278
NM_032578.4(MYPN):c.1079-18T>C rs114932559 0.00278
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg) rs78488552 0.00276
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) rs34120922 0.00276
NM_004100.5(EYA4):c.804+16G>T rs13362743 0.00276
NM_020297.4(ABCC9):c.1056C>T (p.Tyr352=) rs149408382 0.00276
NM_022042.4(SLC26A1):c.*877C>T rs200911718 0.00276
NM_000548.5(TSC2):c.4006-8C>T rs45517325 0.00275
NM_206933.4(USH2A):c.10858A>G (p.Ile3620Val) rs145207584 0.00275
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298 0.00274
NM_001018005.2(TPM1):c.180C>T (p.Tyr60=) rs17850194 0.00273
NM_004333.6(BRAF):c.1517+20T>C rs71645980 0.00273
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664 0.00272
NM_003480.4(MFAP5):c.6G>A (p.Ser2=) rs4132450 0.00272
NM_006393.3(NEBL):c.2149-5G>A rs71578956 0.00272
NM_016938.5(EFEMP2):c.368-11G>A rs181514768 0.00272
NM_052845.4(MMAB):c.403G>A (p.Ala135Thr) rs35648932 0.00272
NM_001105206.3(LAMA4):c.422+20G>T rs188820838 0.00271
NM_005184.4(CALM3):c.201G>A (p.Pro67=) rs34089805 0.00271
NM_000352.6(ABCC8):c.-8G>T rs200091822 0.00270
NM_003036.4(SKI):c.1527C>T (p.Ser509=) rs111935632 0.00270
NM_024426.6(WT1):c.181C>A (p.Arg61=) rs2234581 0.00270
NM_000368.5(TSC1):c.2646C>T (p.Ala882=) rs118203720 0.00269
NM_001148.6(ANK2):c.1401A>G (p.Ala467=) rs142159132 0.00269
NM_000038.6(APC):c.4893T>C (p.Ser1631=) rs35634377 0.00268
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_000441.2(SLC26A4):c.2139T>G (p.Ile713Met) rs143708308 0.00268
NM_145046.5(CALR3):c.1012-9T>C rs144370982 0.00268
NM_000218.3(KCNQ1):c.-5T>C rs532941548 0.00267
NM_000257.4(MYH7):c.4239G>A (p.Ser1413=) rs3729821 0.00267
NM_000335.5(SCN5A):c.486C>T (p.Tyr162=) rs45489099 0.00267
NM_001148.6(ANK2):c.4152T>C (p.Asp1384=) rs116128106 0.00267
NM_014000.3(VCL):c.3258+10A>T rs71579379 0.00267
NM_024649.5(BBS1):c.24T>C (p.Asp8=) rs55848325 0.00267
NM_013266.4(CTNNA3):c.1611G>A (p.Ala537=) rs146900023 0.00266
NM_013975.4(LIG3):c.2961G>A (p.Ala987=) rs76122405 0.00266
NM_000393.5(COL5A2):c.2032-7G>A rs141571092 0.00265
NM_000414.4(HSD17B4):c.2060C>T (p.Thr687Ile) rs28943592 0.00265
NM_001148.6(ANK2):c.3543C>T (p.Ala1181=) rs76685232 0.00265
NM_001267550.2(TTN):c.76113A>G (p.Glu25371=) rs140350441 0.00265
NM_002734.5(PRKAR1A):c.1029C>T (p.Gly343=) rs1803241 0.00265
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn) rs34309943 0.00264
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00264
NM_001267550.2(TTN):c.55553A>G (p.Lys18518Arg) rs72646823 0.00264
NM_005751.5(AKAP9):c.1053A>G (p.Lys351=) rs368967178 0.00263
NM_001126049.2(KLLN):c.-898G>A rs538728843 0.00262
NM_001267550.2(TTN):c.18776C>G (p.Thr6259Ser) rs72648949 0.00262
NM_001267550.2(TTN):c.92537T>C (p.Val30846Ala) rs77968867 0.00262
NM_001378454.1(ALMS1):c.2658A>G (p.Lys886=) rs80133984 0.00262
NM_005751.5(AKAP9):c.4519G>C (p.Asp1507His) rs34086871 0.00262
NM_007373.4(SHOC2):c.1302C>T (p.Asn434=) rs146147503 0.00262
NM_021871.4(FGA):c.1366A>G (p.Thr456Ala) rs2070031 0.00262
NM_001267550.2(TTN):c.5388T>C (p.Asp1796=) rs72647878 0.00261
NM_001267550.2(TTN):c.64762G>A (p.Gly21588Arg) rs181717727 0.00261
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=) rs34201226 0.00261
NM_020297.4(ABCC9):c.2093-7T>C rs185235724 0.00261
NM_002230.4(JUP):c.2025T>C (p.His675=) rs140670556 0.00259
NM_016203.4(PRKAG2):c.111T>A (p.Ile37=) rs144426409 0.00259
NM_001267550.2(TTN):c.70677T>C (p.Asp23559=) rs72646890 0.00258
NM_001386795.1(DTNA):c.999C>T (p.Ile333=) rs61737438 0.00258
NM_002230.4(JUP):c.1159-13C>A rs201627219 0.00258
NM_005477.3(HCN4):c.2275G>A (p.Val759Ile) rs62641689 0.00258
NM_005591.4(MRE11):c.969A>G (p.Pro323=) rs13447633 0.00258
NM_001130987.2(DYSF):c.5743G>A (p.Asp1915Asn) rs115013641 0.00257
NM_002834.5(PTPN11):c.332+17T>G rs115658366 0.00257
NM_001148.6(ANK2):c.3366C>T (p.Asn1122=) rs114896457 0.00256
NM_014000.3(VCL):c.2025G>A (p.Val675=) rs140766884 0.00256
NM_144670.6(A2ML1):c.1050T>C (p.Phe350=) rs201247776 0.00256
NM_000038.6(APC):c.3264G>A (p.Lys1088=) rs114774495 0.00255
NM_000527.5(LDLR):c.*13A>G rs72658871 0.00255
NM_001103.4(ACTN2):c.2368-17T>C rs78961574 0.00255
NM_001267550.2(TTN):c.88708A>G (p.Ile29570Val) rs139506970 0.00255
NM_004360.5(CDH1):c.324A>G (p.Arg108=) rs116542018 0.00255
NM_013266.4(CTNNA3):c.483C>T (p.Leu161=) rs74142830 0.00255
NM_001374353.1(GLI2):c.1751A>G (p.Asn584Ser) rs61732851 0.00254
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=) rs41310953 0.00253
NM_006502.3(POLH):c.626G>T (p.Gly209Val) rs2307456 0.00253
NM_000081.4(LYST):c.2363+4T>C rs201398337 0.00252
NM_000335.5(SCN5A):c.1890+14G>A rs145427253 0.00252
NM_001134363.3(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378 0.00252
NM_001458.5(FLNC):c.4737+15A>G rs182734223 0.00252
NM_006393.3(NEBL):c.154-11C>A rs41277376 0.00252
NM_007294.4(BRCA1):c.4987-20A>G rs80358035 0.00252
NM_144670.6(A2ML1):c.863A>G (p.Lys288Arg) rs75617691 0.00252
NM_001267550.2(TTN):c.96501T>C (p.Ser32167=) rs139223781 0.00251
NM_001267550.2(TTN):c.97490T>C (p.Ile32497Thr) rs55660660 0.00251
NM_001999.4(FBN2):c.8247A>G (p.Thr2749=) rs116413101 0.00251
NM_000243.3(MEFV):c.97G>T (p.Val33Leu) rs11466016 0.00250
NM_001267550.2(TTN):c.83740A>G (p.Thr27914Ala) rs188370772 0.00250
NM_005751.5(AKAP9):c.6556T>C (p.Ser2186Pro) rs76177450 0.00250
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_000162.5(GCK):c.209-8G>A rs144798843 0.00249
NM_206933.4(USH2A):c.11404G>A (p.Glu3802Lys) rs147900972 0.00249
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=) rs138675752 0.00248
NM_006514.4(SCN10A):c.3229-20C>T rs73825880 0.00248
NM_020297.4(ABCC9):c.407-14C>A rs201279882 0.00248
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112 0.00247
NM_001267550.2(TTN):c.41103C>T (p.Gly13701=) rs72650077 0.00247
NM_014000.3(VCL):c.2023-20A>G rs143756084 0.00247
NM_001943.5(DSG2):c.1051A>G (p.Ser351Gly) rs139326669 0.00246
NM_000098.3(CPT2):c.1806T>C (p.Phe602=) rs147953465 0.00245
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780 0.00245
NM_001267550.2(TTN):c.24820G>A (p.Glu8274Lys) rs72648981 0.00245
NM_001378454.1(ALMS1):c.9822C>G (p.Thr3274=) rs201446579 0.00245
NM_004004.6(GJB2):c.-45C>A rs397516868 0.00245
NM_005159.5(ACTC1):c.454+9G>A rs148695567 0.00245
NM_000090.4(COL3A1):c.1927T>C (p.Leu643=) rs41263757 0.00244
NM_001134363.3(RBM20):c.150A>T (p.Pro50=) rs376936285 0.00244
NM_001711.6(BGN):c.357C>T (p.Leu119=) rs146322407 0.00243
NM_000335.5(SCN5A):c.4821C>T (p.Leu1607=) rs45437099 0.00242
NM_001085049.3(MRAS):c.306C>T (p.His102=) rs138905383 0.00242
NM_002474.3(MYH11):c.453G>A (p.Pro151=) rs61734199 0.00242
NM_000719.7(CACNA1C):c.4623+13G>A rs111734850 0.00241
NM_030777.4(SLC2A10):c.1548G>T (p.Arg516=) rs116344406 0.00241
NM_001267550.2(TTN):c.26682G>A (p.Pro8894=) rs142812510 0.00240
NM_001711.6(BGN):c.573C>T (p.Gly191=) rs148808913 0.00240
NM_006231.4(POLE):c.4184A>G (p.Tyr1395Cys) rs5744933 0.00240
NM_006231.4(POLE):c.51C>G (p.Gly17=) rs780436496 0.00240
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_014000.3(VCL):c.1907A>G (p.His636Arg) rs71579374 0.00240
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_000093.5(COL5A1):c.110-19T>C rs148294644 0.00239
NM_001035.3(RYR2):c.6441-19C>T rs140440259 0.00239
NM_004281.4(BAG3):c.463G>A (p.Ala155Thr) rs61756328 0.00239
NM_000048.4(ASL):c.162C>T (p.Leu54=) rs140221164 0.00238
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=) rs17886566 0.00238
NM_001267550.2(TTN):c.103363C>T (p.Arg34455Cys) rs72629785 0.00238
NM_002471.4(MYH6):c.1449C>T (p.Asn483=) rs145447555 0.00238
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=) rs61751536 0.00238
NM_020975.6(RET):c.1336G>C (p.Gly446Arg) rs115423919 0.00238
NM_174936.4(PCSK9):c.1681+17G>A rs200529774 0.00238
NM_000033.4(ABCD1):c.38A>C (p.Asn13Thr) rs183021839 0.00235
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=) rs146100075 0.00235
NM_001035.3(RYR2):c.2204-16G>T rs368648602 0.00235
NM_001267550.2(TTN):c.101064T>C (p.Asp33688=) rs368168812 0.00235
NM_001267550.2(TTN):c.106857C>T (p.Asn35619=) rs116604145 0.00235
NM_005751.5(AKAP9):c.11098-13T>G rs76709221 0.00235
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=) rs186453356 0.00235
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln) rs201619500 0.00235
NM_053025.4(MYLK):c.3242A>G (p.His1081Arg) rs113491038 0.00235
NM_001267550.2(TTN):c.96108G>A (p.Val32036=) rs372773283 0.00234
NM_000057.4(BLM):c.4077-10C>T rs145310008 0.00233
NM_000091.5(COL4A3):c.3031C>T (p.Arg1011Cys) rs73996408 0.00233
NM_000237.3(LPL):c.429+20A>C rs3735959 0.00233
NM_001134363.3(RBM20):c.1986G>A (p.Pro662=) rs537723089 0.00233
NM_001267550.2(TTN):c.19150C>A (p.Pro6384Thr) rs72648953 0.00233
NM_007294.4(BRCA1):c.114G>A (p.Lys38=) rs1800062 0.00233
NM_001037.5(SCN1B):c.267C>T (p.Arg89=) rs140949982 0.00232
NM_001040151.2(SCN3B):c.582C>T (p.Asn194=) rs34964168 0.00232
NM_001308093.3(GATA4):c.462C>T (p.Phe154=) rs56348550 0.00232
NM_002471.4(MYH6):c.1275C>T (p.Ile425=) rs61742470 0.00232
NM_005188.4(CBL):c.869+19A>G rs181589369 0.00232
NM_005911.6(MAT2A):c.108A>G (p.Gln36=) rs115257622 0.00232
NM_003000.3(SDHB):c.170A>G (p.His57Arg) rs35962811 0.00231
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_001103.4(ACTN2):c.1423G>A (p.Asp475Asn) rs80257412 0.00230
NM_001267550.2(TTN):c.47191C>T (p.Arg15731Cys) rs72677231 0.00229
NM_053025.4(MYLK):c.24C>G (p.Ala8=) rs78118111 0.00229
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=) rs61754138 0.00228
NM_000238.4(KCNH2):c.558C>T (p.Gly186=) rs139533994 0.00228
NM_001267550.2(TTN):c.70815G>A (p.Val23605=) rs55847238 0.00228
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250 0.00228
NM_014000.3(VCL):c.1671C>T (p.Asp557=) rs137877092 0.00228
NM_001037.5(SCN1B):c.448+193G>A rs66876876 0.00227
NM_005502.4(ABCA1):c.5774G>A (p.Arg1925Gln) rs142688906 0.00227
NM_144596.4(TTC8):c.1253A>G (p.Gln418Arg) rs142938748 0.00227
NM_002474.3(MYH11):c.4239C>T (p.Ala1413=) rs138573101 0.00226
NM_001267550.2(TTN):c.101245G>A (p.Val33749Met) rs201554140 0.00225
NM_144670.6(A2ML1):c.1745A>G (p.Gln582Arg) rs200271507 0.00225
NM_001079802.2(FKTN):c.668C>T (p.Thr223Ile) rs116105846 0.00224
NM_001267550.2(TTN):c.76722T>C (p.Tyr25574=) rs55696153 0.00223
NM_001943.5(DSG2):c.3209C>T (p.Thr1070Met) rs149617776 0.00223
NM_005633.4(SOS1):c.3081+13A>G rs189695571 0.00223
NM_016938.5(EFEMP2):c.368-4G>A rs111550973 0.00223
NM_001148.6(ANK2):c.7132G>A (p.Glu2378Lys) rs141191319 0.00222
NM_006506.5(RASA2):c.1020+20G>A rs113251297 0.00222
NM_006767.4(LZTR1):c.2187C>T (p.Tyr729=) rs117346988 0.00222
NM_000527.5(LDLR):c.2390-16G>A rs183496025 0.00221
NM_005359.6(SMAD4):c.1140-10T>C rs186332162 0.00221
NM_001035.3(RYR2):c.4989C>T (p.Ala1663=) rs147060179 0.00220
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889 0.00220
NM_005911.6(MAT2A):c.501A>G (p.Leu167=) rs75623534 0.00220
NM_183050.4(BCKDHB):c.742+16A>G rs140373763 0.00220
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319 0.00219
NM_001110556.2(FLNA):c.7686C>T (p.Ala2562=) rs76337075 0.00219
NM_001267550.2(TTN):c.4199G>C (p.Ser1400Thr) rs138506461 0.00219
NM_002474.3(MYH11):c.3652-6C>T rs193922630 0.00219
NM_000465.4(BARD1):c.620A>G (p.Lys207Arg) rs34969857 0.00218
NM_004281.4(BAG3):c.-17G>A rs200388926 0.00218
NM_000293.3(PHKB):c.39G>A (p.Trp13Ter) rs141733590 0.00217
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=) rs117880912 0.00217
NM_001267550.2(TTN):c.1398+18A>G rs72647849 0.00217
NM_004525.3(LRP2):c.12379C>A (p.Arg4127Ser) rs148356370 0.00217
NM_006172.4(NPPA):c.83T>C (p.Met28Thr) rs142116829 0.00217
NM_000152.5(GAA):c.2647-8C>T rs139201641 0.00216
NM_005732.4(RAD50):c.2670G>A (p.Gln890=) rs112241748 0.00216
NM_144670.6(A2ML1):c.2029-5A>C rs145965024 0.00216
NM_144670.6(A2ML1):c.2713-8C>A rs184386564 0.00216
NM_000051.4(ATM):c.370A>G (p.Ile124Val) rs148590073 0.00215
NM_001103.4(ACTN2):c.1341C>T (p.Phe447=) rs34785693 0.00215
NM_005911.6(MAT2A):c.318G>T (p.Val106=) rs72940560 0.00215
NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val) rs201036248 0.00214
NM_000352.6(ABCC8):c.4545+13C>T rs78338172 0.00212
NM_001267550.2(TTN):c.1068G>A (p.Glu356=) rs144716589 0.00212
NM_001458.5(FLNC):c.2889G>A (p.Pro963=) rs191892345 0.00212
NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp) rs144888041 0.00212
NM_053025.4(MYLK):c.755-12C>T rs138877679 0.00212
NM_001105206.3(LAMA4):c.5016T>A (p.Ile1672=) rs148517180 0.00210
NM_005751.5(AKAP9):c.6331-8T>C rs186211000 0.00210
NM_144670.6(A2ML1):c.621T>C (p.Gly207=) rs145494834 0.00210
NM_170707.4(LMNA):c.1761G>A (p.Leu587=) rs80356813 0.00210
NM_000719.7(CACNA1C):c.1176G>T (p.Gly392=) rs1051360 0.00209
NM_001267550.2(TTN):c.54208A>C (p.Arg18070=) rs138240658 0.00209
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
NM_020297.4(ABCC9):c.3768T>C (p.Leu1256=) rs150303433 0.00209
NM_000455.5(STK11):c.464+9G>A rs376313955 0.00208
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111 0.00208
NM_001005242.3(PKP2):c.972G>A (p.Ala324=) rs142636176 0.00208
NM_001148.6(ANK2):c.6648C>G (p.Gly2216=) rs140926982 0.00208
NM_001267550.2(TTN):c.289G>A (p.Val97Met) rs185921345 0.00208
NM_001267550.2(TTN):c.73168A>G (p.Thr24390Ala) rs182491843 0.00208
NM_001330.5(CTF1):c.591C>G (p.Pro197=) rs397516652 0.00208
NM_002471.4(MYH6):c.3979-7dup rs545343612 0.00208
NM_002471.4(MYH6):c.4401T>G (p.Ser1467=) rs150081280 0.00208
NM_012452.3(TNFRSF13B):c.*98dup rs555681458 0.00208
NM_001005242.3(PKP2):c.1379-18A>G rs113698150 0.00207
NM_001035.3(RYR2):c.2396+17T>G rs376363428 0.00207
NM_001386795.1(DTNA):c.1297C>T (p.His433Tyr) rs139872140 0.00207
NM_004612.4(TGFBR1):c.1152C>T (p.Leu384=) rs115324990 0.00207
NM_017617.5(NOTCH1):c.4626C>T (p.Asp1542=) rs142375989 0.00207
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_144670.6(A2ML1):c.158C>G (p.Thr53Arg) rs79149293 0.00207
NM_000116.5(TAFAZZIN):c.646+14C>T rs191527230 0.00206
NM_000383.4(AIRE):c.1566+8C>T rs72650680 0.00206
NM_001267550.2(TTN):c.87707-4G>T rs201770959 0.00206
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_005002.5(NDUFA9):c.655+17A>G rs149534005 0.00206
NM_013266.4(CTNNA3):c.33C>T (p.Ile11=) rs61735044 0.00206
NM_000520.5(HEXA):c.-2523T>C rs189707796 0.00205
NM_001035.3(RYR2):c.2760G>A (p.Glu920=) rs186181155 0.00205
NM_001148.6(ANK2):c.2277+9C>T rs141965666 0.00205
NM_001999.4(FBN2):c.7471+6G>A rs200998513 0.00205
NM_006231.4(POLE):c.5334C>T (p.Ala1778=) rs11146986 0.00205
NM_001267550.2(TTN):c.71705T>C (p.Ile23902Thr) rs55837610 0.00204
NM_001378454.1(ALMS1):c.3311G>A (p.Gly1104Asp) rs201074268 0.00204
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala) rs114636635 0.00204
NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala) rs141893001 0.00203
NM_001005242.3(PKP2):c.2168-19T>A rs527736735 0.00203
NM_001035.3(RYR2):c.10324-4A>G rs72751287 0.00203
NM_001354604.2(MITF):c.880+9C>G rs181810413 0.00203
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_000548.5(TSC2):c.1281C>A (p.Ile427=) rs45478892 0.00202
NM_001267550.2(TTN):c.47248G>A (p.Val15750Ile) rs72677232 0.00202
NM_003060.4(SLC22A5):c.1434C>T (p.Pro478=) rs140495935 0.00202
NM_024675.4(PALB2):c.721A>G (p.Asn241Asp) rs113217267 0.00202
NM_001354604.2(MITF):c.366C>T (p.His122=) rs140663277 0.00201
NM_003098.3(SNTA1):c.311-6G>C rs139532210 0.00201
NM_033337.3(CAV3):c.-1G>A rs74377241 0.00201
NM_000051.4(ATM):c.162T>C (p.Tyr54=) rs3218690 0.00200
NM_001267550.2(TTN):c.69412+10G>C rs72646883 0.00200
NM_001999.4(FBN2):c.738G>A (p.Ala246=) rs150087436 0.00200
NM_000117.3(EMD):c.399+18C>T rs182540760 0.00199
NM_001999.4(FBN2):c.-17C>G rs372089451 0.00199
NM_002471.4(MYH6):c.4416A>G (p.Ser1472=) rs140800076 0.00199
NM_000153.4(GALC):c.195+19G>A rs189853941 0.00198
NM_000363.5(TNNI3):c.273G>A (p.Ala91=) rs75491697 0.00198
NM_004006.3(DMD):c.10087-20C>T rs41303187 0.00198
NM_005502.4(ABCA1):c.5376C>T (p.Thr1792=) rs13306077 0.00198
NM_006231.4(POLE):c.2106G>T (p.Gly702=) rs5744801 0.00198
NM_014000.3(VCL):c.2434+19T>C rs188216596 0.00198
NM_032578.4(MYPN):c.1893G>A (p.Arg631=) rs145440469 0.00198
NM_000155.4(GALT):c.377+55T>C rs184214383 0.00197
NM_001267550.2(TTN):c.105127C>T (p.Arg35043Cys) rs200378865 0.00197
NM_002691.4(POLD1):c.56G>A (p.Arg19His) rs3218773 0.00197
NM_004415.4(DSP):c.4383G>A (p.Glu1461=) rs140029036 0.00197
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_053025.4(MYLK):c.5441C>T (p.Thr1814Ile) rs142220417 0.00197
NM_000335.5(SCN5A):c.1681C>T (p.Leu561=) rs45522138 0.00196
NM_005373.3(MPL):c.1654-10T>A rs200460456 0.00196
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val) rs147327414 0.00195
NM_001378454.1(ALMS1):c.1453A>G (p.Ile485Val) rs73945001 0.00195
NM_004006.3(DMD):c.2380+11G>A rs183120304 0.00195
NM_015141.4(GPD1L):c.981G>A (p.Val327=) rs144877595 0.00195
NM_053025.4(MYLK):c.4620-6C>T rs113607507 0.00195
NM_000093.5(COL5A1):c.1158C>T (p.Ser386=) rs61729497 0.00194
NM_001165963.4(SCN1A):c.3550+11G>T rs202142409 0.00194
NM_001267550.2(TTN):c.28070C>T (p.Thr9357Ile) rs144930507 0.00194
NM_024422.6(DSC2):c.2616C>T (p.Cys872=) rs61731920 0.00194
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=) rs75091137 0.00194
NM_199242.3(UNC13D):c.847A>G (p.Ile283Val) rs61754871 0.00194
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995 0.00193
NM_001267550.2(TTN):c.98439G>A (p.Val32813=) rs368487246 0.00193
NM_001943.5(DSG2):c.6G>A (p.Ala2=) rs368809971 0.00193
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006 0.00193
NM_014000.3(VCL):c.1353-19G>A rs145537824 0.00193
NM_020297.4(ABCC9):c.1677G>A (p.Ala559=) rs76458291 0.00193
NM_024675.4(PALB2):c.1606C>T (p.Leu536=) rs151162255 0.00193
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850 0.00192
NM_001267550.2(TTN):c.34769A>G (p.Glu11590Gly) rs201167067 0.00192
NM_004329.3(BMPR1A):c.777G>A (p.Ala259=) rs56108371 0.00192
NM_005502.4(ABCA1):c.2338-17T>C rs182899836 0.00192
NM_013266.4(CTNNA3):c.2172A>C (p.Pro724=) rs116662854 0.00191
NM_015627.3(LDLRAP1):c.672C>T (p.Ser224=) rs41291054 0.00191
NM_174936.4(PCSK9):c.225T>C (p.Pro75=) rs146563151 0.00191
NM_194248.3(OTOF):c.5742G>A (p.Leu1914=) rs141235641 0.00191
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) rs121907970 0.00190
NM_000551.4(VHL):c.340+5G>C rs61758376 0.00190
NM_001042492.3(NF1):c.2553C>T (p.Cys851=) rs2230852 0.00190
NM_001164508.2(NEB):c.10452+9A>G rs117270796 0.00190
NM_001164508.2(NEB):c.11004G>A (p.Thr3668=) rs117018177 0.00190
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069 0.00190
NM_007194.4(CHEK2):c.1407G>A (p.Val469=) rs17881378 0.00190
NM_145046.5(CALR3):c.483C>A (p.Ile161=) rs143158265 0.00190
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu) rs2230850 0.00189
NM_001267550.2(TTN):c.66977A>G (p.Lys22326Arg) rs202125813 0.00189
NM_001927.4(DES):c.324G>A (p.Glu108=) rs138677215 0.00189
NM_005732.4(RAD50):c.3165-8T>G rs369581851 0.00189
NM_007078.3(LDB3):c.1460G>A (p.Arg487His) rs146265188 0.00189
NM_032578.4(MYPN):c.1563C>T (p.Tyr521=) rs77249928 0.00189
NM_000245.4(MET):c.1715G>A (p.Ser572Asn) rs199771406 0.00188
NM_001032283.3(TMPO):c.565+1728G>C rs145703021 0.00188
NM_001267550.2(TTN):c.19738C>T (p.Pro6580Ser) rs116572520 0.00188
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_002691.4(POLD1):c.378C>T (p.Arg126=) rs145324823 0.00188
NM_006393.3(NEBL):c.1869+8C>G rs188529864 0.00188
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052 0.00187
NM_000368.5(TSC1):c.106+15A>G rs80258442 0.00187
NM_013975.4(LIG3):c.2331+19G>A rs3136015 0.00186
NM_000532.5(PCCB):c.184-12G>T rs181283691 0.00185
NM_004415.4(DSP):c.1206G>A (p.Lys402=) rs150422458 0.00185
NM_005188.4(CBL):c.870-19del rs548130600 0.00185
NM_006258.4(PRKG1):c.906A>C (p.Gly302=) rs145917628 0.00185
NM_016599.5(MYOZ2):c.29A>C (p.Gln10Pro) rs76757102 0.00185
NM_001267550.2(TTN):c.18856G>A (p.Val6286Ile) rs149131555 0.00184
NM_001267550.2(TTN):c.92176C>T (p.Pro30726Ser) rs72648247 0.00184
NM_022081.6(HPS4):c.1396C>T (p.Arg466Cys) rs147435410 0.00184
NM_000306.4(POU1F1):c.370A>G (p.Met124Val) rs143373007 0.00183
NM_000492.4(CFTR):c.1365G>A (p.Ala455=) rs79074685 0.00183
NM_000527.5(LDLR):c.1545C>T (p.Asn515=) rs147896205 0.00183
NM_001164508.2(NEB):c.25542C>T (p.Thr8514=) rs3821324 0.00183
NM_006767.4(LZTR1):c.741C>T (p.Ser247=) rs114458679 0.00183
NM_000093.5(COL5A1):c.4230+5C>T rs142248898 0.00182
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586 0.00182
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=) rs61751539 0.00182
NM_001165963.4(SCN1A):c.3705+12T>G rs147032678 0.00181
NM_001267550.2(TTN):c.14765G>A (p.Ser4922Asn) rs184740744 0.00181
NM_001370259.2(MEN1):c.597C>T (p.His199=) rs150512958 0.00181
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile) rs143326262 0.00181
NM_033118.4(MYLK2):c.1458T>C (p.Asp486=) rs111888319 0.00180
NM_001999.4(FBN2):c.5353+19C>T rs183524866 0.00179
NM_003000.3(SDHB):c.423+20T>A rs190139590 0.00179
NM_006231.4(POLE):c.2561+6T>C rs116231808 0.00179
NM_030662.4(MAP2K2):c.303+11C>T rs200405512 0.00179
NM_033118.4(MYLK2):c.1295+4C>A rs113936360 0.00179
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe) rs45488304 0.00178
NM_001278116.2(L1CAM):c.2302G>A (p.Val768Ile) rs36021462 0.00178
NM_001458.5(FLNC):c.561C>T (p.Asp187=) rs149474376 0.00178
NM_004415.4(DSP):c.4489C>T (p.Arg1497Trp) rs148041814 0.00178
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=) rs2234473 0.00178
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_001079.4(ZAP70):c.1605C>T (p.Tyr535=) rs11889573 0.00177
NM_001267550.2(TTN):c.29963-13A>G rs72650008 0.00177
NM_016169.4(SUFU):c.*20= rs4917980 0.00177
NM_017780.4(CHD7):c.1179A>G (p.Pro393=) rs111238892 0.00177
NM_144670.6(A2ML1):c.9T>A (p.Ala3=) rs151044194 0.00177
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln) rs112185887 0.00176
NM_000465.4(BARD1):c.33G>T (p.Gln11His) rs143914387 0.00176
NM_000301.5(PLG):c.1878-6T>C rs192519670 0.00175
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=) rs148108322 0.00175
NM_000719.7(CACNA1C):c.1669+10G>A rs576194052 0.00175
NM_001267550.2(TTN):c.103974C>T (p.Ile34658=) rs199714102 0.00175
NM_001999.4(FBN2):c.7593A>G (p.Lys2531=) rs28763923 0.00175
NM_005751.5(AKAP9):c.5978-4A>G rs147494754 0.00175
NM_000093.5(COL5A1):c.277+6T>G rs201910803 0.00174
NM_001105206.3(LAMA4):c.196-9C>T rs144850734 0.00174
NM_000268.4(NF2):c.1123-6C>T rs147898623 0.00173
NM_001037.5(SCN1B):c.448+321G>A rs72558028 0.00173
NM_001077653.2(TBX20):c.297A>G (p.Lys99=) rs79990622 0.00173
NM_001943.5(DSG2):c.1652-12C>T rs140850369 0.00173
NM_020975.6(RET):c.468C>T (p.Ala156=) rs141290380 0.00173
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=) rs61754141 0.00173
NM_001267550.2(TTN):c.35264A>C (p.Lys11755Thr) rs189966800 0.00172
NM_002471.4(MYH6):c.2928+5G>A rs28730772 0.00172
NM_144670.6(A2ML1):c.196C>T (p.Leu66=) rs185519272 0.00172
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202 0.00171
NM_001164508.2(NEB):c.23599A>C (p.Lys7867Gln) rs118191309 0.00171
NM_002878.4(RAD51D):c.481-7G>A rs145832514 0.00171
NM_000059.4(BRCA2):c.1798T>C (p.Tyr600His) rs75419644 0.00170
NM_001267550.2(TTN):c.104365G>A (p.Glu34789Lys) rs190565627 0.00170
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 0.00170
NM_013266.4(CTNNA3):c.580-8C>T rs141983252 0.00170
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059 0.00169
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723 0.00168
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_001377.3(DYNC2H1):c.6894-4G>A rs17100043 0.00168
NM_001458.5(FLNC):c.2390-9T>C rs368068407 0.00168
NM_001927.4(DES):c.792C>T (p.Asp264=) rs150370918 0.00168
NM_007078.3(LDB3):c.954C>T (p.Pro318=) rs45603139 0.00168
NM_017636.4(TRPM4):c.1575G>A (p.Trp525Ter) rs71352737 0.00168
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr) rs80116829 0.00167
NM_003036.4(SKI):c.2184G>C (p.Pro728=) rs543584871 0.00167
NM_006231.4(POLE):c.6453C>T (p.Tyr2151=) rs116076060 0.00167
NM_004304.5(ALK):c.3594C>T (p.Leu1198=) rs56071005 0.00166
NM_005188.4(CBL):c.2484G>A (p.Pro828=) rs149533467 0.00166
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00165
NM_000268.4(NF2):c.*4G>A rs141099051 0.00165
NM_000368.5(TSC1):c.1726T>C (p.Leu576=) rs118203567 0.00165
NM_001458.5(FLNC):c.8049C>T (p.Tyr2683=) rs183104951 0.00165
NM_001852.4(COL9A2):c.250-7T>C rs146943340 0.00165
NM_006172.4(NPPA):c.190A>C (p.Ser64Arg) rs61757261 0.00165
NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=) rs61737906 0.00164
NM_000321.3(RB1):c.2212-6C>T rs776162179 0.00164
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092 0.00163
NM_001267550.2(TTN):c.46880C>T (p.Ala15627Val) rs115813214 0.00163
NM_001378454.1(ALMS1):c.6082T>C (p.Ser2028Pro) rs149096794 0.00163
NM_005477.3(HCN4):c.1518C>T (p.Tyr506=) rs139590882 0.00163
NM_014476.6(PDLIM3):c.60C>A (p.Gly20=) rs113792127 0.00163
NM_001035.3(RYR2):c.13782+20A>G rs368059068 0.00162
NM_015909.4(NBAS):c.3928A>G (p.Thr1310Ala) rs35489395 0.00162
NM_000038.6(APC):c.120G>A (p.Glu40=) rs142720069 0.00161
NM_014391.3(ANKRD1):c.208-16C>T rs79793575 0.00161
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=) rs79203206 0.00160
NM_024675.4(PALB2):c.400G>A (p.Asp134Asn) rs139555085 0.00160
NM_000093.5(COL5A1):c.3259-8C>T rs146461106 0.00159
NM_000179.3(MSH6):c.3801+17T>C rs3136365 0.00159
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799 0.00159
NM_006767.4(LZTR1):c.201-13C>T rs191677014 0.00159
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00158
NM_000090.4(COL3A1):c.3613A>G (p.Ile1205Val) rs2271683 0.00158
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299 0.00158
NM_000218.3(KCNQ1):c.435C>T (p.Ile145=) rs1800170 0.00158
NM_000314.8(PTEN):c.1104T>C (p.Asp368=) rs35979531 0.00158
NM_000383.4(AIRE):c.1567-5C>T rs192215705 0.00158
NM_001370259.2(MEN1):c.-20G>A rs386134244 0.00158
NM_001378454.1(ALMS1):c.9914A>G (p.Asn3305Ser) rs142022233 0.00158
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile) rs193922639 0.00158
NM_001999.4(FBN2):c.2940C>T (p.Cys980=) rs143255082 0.00158
NM_001999.4(FBN2):c.5448A>G (p.Pro1816=) rs138022198 0.00158
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296 0.00158
NM_138694.4(PKHD1):c.7942G>A (p.Gly2648Ser) rs139555370 0.00158
NM_170707.4(LMNA):c.1851C>T (p.Ala617=) rs143189394 0.00158
NM_000143.4(FH):c.1236+14C>T rs149241949 0.00157
NM_003000.3(SDHB):c.300T>C (p.Ser100=) rs11541235 0.00157
NM_000238.4(KCNH2):c.1129-18C>T rs78794789 0.00156
NM_001035.3(RYR2):c.14756+12C>T rs2275693 0.00156
NM_001148.6(ANK2):c.3255G>T (p.Ala1085=) rs56173868 0.00156
NM_001267550.2(TTN):c.30598+15C>T rs79685525 0.00156
NM_002838.5(PTPRC):c.3670G>A (p.Val1224Ile) rs150672767 0.00156
NM_004415.4(DSP):c.1920C>T (p.Ile640=) rs74806300 0.00156
NM_005732.4(RAD50):c.2091C>T (p.Val697=) rs61747588 0.00156
NM_053025.4(MYLK):c.4289-4C>G rs376670657 0.00156
NM_000368.5(TSC1):c.1701G>A (p.Ala567=) rs35478675 0.00155
NM_003480.4(MFAP5):c.410-18G>A rs151240610 0.00155
NM_004004.6(GJB2):c.*3C>A rs111033460 0.00155
NM_006506.5(RASA2):c.761+8C>T rs143073468 0.00155
NM_006767.4(LZTR1):c.1530C>T (p.His510=) rs190714197 0.00155
NM_000136.3(FANCC):c.840G>A (p.Ser280=) rs34671520 0.00154
NM_001267550.2(TTN):c.58612A>G (p.Thr19538Ala) rs200017524 0.00154
NM_005585.5(SMAD6):c.1359C>T (p.Asp453=) rs368834798 0.00154
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter) rs147622517 0.00154
NM_017636.4(TRPM4):c.1873+13C>G rs184297107 0.00154
NM_032578.4(MYPN):c.1104C>T (p.Gly368=) rs144764983 0.00154
NM_000245.4(MET):c.654G>A (p.Arg218=) rs35284565 0.00153
NM_001032283.3(TMPO):c.87C>T (p.Ala29=) rs114074541 0.00153
NM_001035.3(RYR2):c.4596+12G>A rs148557427 0.00153
NM_001267550.2(TTN):c.88297G>A (p.Asp29433Asn) rs189202799 0.00153
NM_004281.4(BAG3):c.909+17G>A rs139086861 0.00153
NM_005901.6(SMAD2):c.998-18A>G rs189675475 0.00153
NM_014476.6(PDLIM3):c.993C>A (p.Gly331=) rs139493914 0.00153
NM_022114.4(PRDM16):c.201G>A (p.Pro67=) rs199614349 0.00153
NM_053025.4(MYLK):c.4620-18G>A rs41305835 0.00153
NM_053025.4(MYLK):c.5501-20G>A rs186240444 0.00153
NM_001854.4(COL11A1):c.*17A>G rs190728953 0.00152
NM_002691.4(POLD1):c.971-4G>A rs200144991 0.00152
NM_005591.4(MRE11):c.822T>C (p.Leu274=) rs137868143 0.00152
NM_001105206.3(LAMA4):c.4822-3C>T rs191447048 0.00151
NM_001458.5(FLNC):c.2389+12C>T rs370526829 0.00151
NM_001035.3(RYR2):c.2301G>T (p.Ser767=) rs117588730 0.00150
NM_001113378.2(FANCI):c.3865A>G (p.Ile1289Val) rs114549781 0.00150
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=) rs142639688 0.00150
NM_016203.4(PRKAG2):c.1704G>A (p.Thr568=) rs138167675 0.00150
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528 0.00149
NM_004612.4(TGFBR1):c.-2C>T rs200224304 0.00149
NM_006231.4(POLE):c.5124C>T (p.Phe1708=) rs114891564 0.00149
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) rs363847 0.00148
NM_000393.5(COL5A2):c.1618-19C>G rs189970491 0.00148
NM_001164508.2(NEB):c.914A>G (p.Asp305Gly) rs36105240 0.00148
NM_017617.5(NOTCH1):c.1122C>T (p.Asp374=) rs192683347 0.00148
NM_000363.5(TNNI3):c.109-17C>A rs139150276 0.00147
NM_001103.4(ACTN2):c.1515+15C>T rs368107695 0.00147
NM_001113378.2(FANCI):c.2817G>T (p.Lys939Asn) rs145192583 0.00147
NM_001267550.2(TTN):c.11254+2T>C rs199565715 0.00147
NM_006361.6(HOXB13):c.735G>A (p.Lys245=) rs138675188 0.00147
NM_017617.5(NOTCH1):c.4056C>T (p.Cys1352=) rs200099319 0.00147
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp) rs61734354 0.00146
NM_000090.4(COL3A1):c.2056C>G (p.Pro686Ala) rs41263775 0.00146
NM_000218.3(KCNQ1):c.1032+11C>T rs201144841 0.00146
NM_001035.3(RYR2):c.309+7C>T rs377710043 0.00146
NM_001267550.2(TTN):c.18961A>G (p.Ile6321Val) rs145204073 0.00146
NM_001267550.2(TTN):c.73336C>T (p.Leu24446=) rs189768015 0.00146
NM_002471.4(MYH6):c.3979-15C>A rs529249069 0.00146
NM_004006.3(DMD):c.2971G>C (p.Glu991Gln) rs72468667 0.00146
NM_005732.4(RAD50):c.379G>A (p.Val127Ile) rs28903086 0.00146
NM_005751.5(AKAP9):c.1536C>T (p.Leu512=) rs61757665 0.00146
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe) rs151073129 0.00145
NM_002471.4(MYH6):c.3927T>C (p.Ser1309=) rs115742584 0.00145
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_003924.4(PHOX2B):c.288C>G (p.Arg96=) rs201892150 0.00145
NM_004360.5(CDH1):c.2440-6C>G rs139757930 0.00145
NM_004612.4(TGFBR1):c.1387-14dup rs863223800 0.00145
NM_005502.4(ABCA1):c.3542C>T (p.Ser1181Phe) rs76881554 0.00145
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met) rs55815649 0.00145
NM_020433.5(JPH2):c.642G>A (p.Ala214=) rs587780956 0.00145
NM_139276.3(STAT3):c.1680C>T (p.Ser560=) rs146817483 0.00145
NM_000397.4(CYBB):c.1551T>A (p.Asp517Glu) rs151344452 0.00144
NM_001458.5(FLNC):c.4456+14G>A rs375227447 0.00144
NM_004304.5(ALK):c.2915-9T>C rs373765395 0.00144
NM_000038.6(APC):c.6921G>A (p.Ser2307=) rs2229993 0.00143
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00143
NM_000416.3(IFNGR1):c.200+15T>G rs17175329 0.00143
NM_001035.3(RYR2):c.9067+12C>T rs112365440 0.00143
NM_001267550.2(TTN):c.37432C>T (p.Pro12478Ser) rs200992277 0.00143
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196 0.00143
NM_004360.5(CDH1):c.1272C>T (p.Val424=) rs61756284 0.00143
NM_006506.5(RASA2):c.252-18C>G rs184922882 0.00143
NM_000416.3(IFNGR1):c.538G>A (p.Gly180Arg) rs137854904 0.00142
NM_001458.5(FLNC):c.3861C>T (p.His1287=) rs375986462 0.00142
NM_002471.4(MYH6):c.3979-7T>G rs535111647 0.00142
NM_002691.4(POLD1):c.2967G>A (p.Thr989=) rs3218752 0.00142
NM_000363.5(TNNI3):c.373-15C>G rs192630178 0.00141
NM_001110556.2(FLNA):c.7506C>T (p.Gly2502=) rs200195310 0.00141
NM_001267550.2(TTN):c.32593G>C (p.Val10865Leu) rs150733188 0.00141
NM_001711.6(BGN):c.111C>T (p.Asn37=) rs145819764 0.00141
NM_004281.4(BAG3):c.549C>G (p.Ser183=) rs112929734 0.00141
NM_005502.4(ABCA1):c.5301T>C (p.Tyr1767=) rs145246003 0.00141
NM_005732.4(RAD50):c.943G>T (p.Val315Leu) rs28903090 0.00141
NM_000335.5(SCN5A):c.3246C>T (p.Ser1082=) rs111422496 0.00140
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=) rs200660642 0.00140
NM_002691.4(POLD1):c.2577C>T (p.Gly859=) rs149366027 0.00140
NM_015141.4(GPD1L):c.*18G>T rs12629676 0.00140
NM_020297.4(ABCC9):c.924T>C (p.Asp308=) rs139127928 0.00140
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742 0.00139
NM_001009944.3(PKD1):c.11538-11C>T rs377692278 0.00139
NM_001458.5(FLNC):c.5262C>T (p.Tyr1754=) rs369165766 0.00139
NM_004415.4(DSP):c.6678T>A (p.Gly2226=) rs149070106 0.00139
NM_017617.5(NOTCH1):c.2207+16G>A rs200956009 0.00139
NM_000251.3(MSH2):c.1737A>G (p.Lys579=) rs61756467 0.00138
NM_000548.5(TSC2):c.2565C>T (p.His855=) rs143537386 0.00138
NM_001110556.2(FLNA):c.942A>G (p.Gly314=) rs200763980 0.00138
NM_001365276.2(TNXB):c.10046-4C>T rs41267134 0.00138
NM_001378454.1(ALMS1):c.3732G>A (p.Lys1244=) rs140670994 0.00138
NM_013975.4(LIG3):c.471C>A (p.Ile157=) rs61749869 0.00138
NM_024422.6(DSC2):c.2194T>G (p.Leu732Val) rs151024019 0.00138
NM_030662.3(MAP2K2):c.*19C>T rs145743390 0.00138
NM_144670.6(A2ML1):c.3903G>C (p.Glu1301Asp) rs77431272 0.00138
NM_000088.4(COL1A1):c.2236-17C>G rs193922146 0.00137
NM_001267550.2(TTN):c.48460+8C>T rs2288565 0.00137
NM_001267550.2(TTN):c.72782G>A (p.Arg24261Gln) rs142874389 0.00137
NM_001943.5(DSG2):c.3295A>G (p.Thr1099Ala) rs79068489 0.00137
NM_001999.4(FBN2):c.2555-7A>G rs28763949 0.00137
NM_005188.4(CBL):c.2190G>C (p.Thr730=) rs143840974 0.00137
NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu) rs142401936 0.00137
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_001110556.2(FLNA):c.6516G>A (p.Gln2172=) rs199802825 0.00136
NM_002709.3(PPP1CB):c.27C>T (p.Asp9=) rs141050112 0.00136
NM_004100.5(EYA4):c.783G>A (p.Thr261=) rs17854076 0.00136
NM_005751.5(AKAP9):c.6921A>G (p.Gln2307=) rs141156177 0.00136
NM_007078.3(LDB3):c.1422G>A (p.Ser474=) rs142625982 0.00136
NM_001458.5(FLNC):c.2122-17T>C rs144828462 0.00135
NM_001458.5(FLNC):c.6459C>T (p.Thr2153=) rs113618587 0.00135
NM_002691.4(POLD1):c.2007-4G>A rs202035484 0.00135
NM_006393.3(NEBL):c.2685C>T (p.Asp895=) rs140245727 0.00135
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221 0.00134
NM_000179.3(MSH6):c.3647-6T>A rs182871847 0.00134
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=) rs200799870 0.00134
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys) rs1800073 0.00134
NM_000527.5(LDLR):c.1323C>T (p.Ile441=) rs5933 0.00134
NM_001134363.3(RBM20):c.1528-16T>C rs191166138 0.00134
NM_001267550.2(TTN):c.72137C>T (p.Ala24046Val) rs146767076 0.00134
NM_001267550.2(TTN):c.8902+14T>A rs13388274 0.00134
NM_001999.4(FBN2):c.8364+7A>T rs185052980 0.00134
NM_012186.3(FOXE3):c.276C>T (p.Leu92=) rs143712915 0.00134
NM_017617.5(NOTCH1):c.3511-10G>A rs139838537 0.00134
NM_194248.3(OTOF):c.367G>A (p.Gly123Ser) rs116314622 0.00134
NM_000163.5(GHR):c.439+9C>T rs138669138 0.00133
NM_000258.3(MYL3):c.81T>C (p.Pro27=) rs147584015 0.00133
NM_001267550.2(TTN):c.16621+7A>T rs10200398 0.00133
NM_001267550.2(TTN):c.17183-9T>C rs141687561 0.00133
NM_001267550.2(TTN):c.32480C>T (p.Ala10827Val) rs72650030 0.00133
NM_001379610.1(SPINK1):c.75C>T (p.Ser25=) rs35006579 0.00133
NM_001458.5(FLNC):c.6005-9T>C rs118124743 0.00133
NM_001999.4(FBN2):c.5675-12_5675-11insG rs150372632 0.00133
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His) rs144984628 0.00133
NM_005732.4(RAD50):c.3165-4A>T rs104895050 0.00133
NM_006790.3(MYOT):c.981T>C (p.Asn327=) rs148479015 0.00133
NM_012452.3(TNFRSF13B):c.618C>T (p.Ala206=) rs147846226 0.00133
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
NM_004415.4(DSP):c.3696C>A (p.Ser1232=) rs141120358 0.00132
NM_000432.4(MYL2):c.279G>A (p.Ala93=) rs28645088 0.00131
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230 0.00131
NM_001267550.2(TTN):c.77813G>C (p.Trp25938Ser) rs186681106 0.00131
NM_001267550.2(TTN):c.83315A>T (p.Asn27772Ile) rs578191491 0.00131
NM_004415.4(DSP):c.4372C>G (p.Arg1458Gly) rs28763965 0.00131
NM_000110.4(DPYD):c.2485G>A (p.Asp829Asn) rs199777072 0.00130
NM_000448.3(RAG1):c.577G>A (p.Glu193Lys) rs34841221 0.00130
NM_002471.4(MYH6):c.4782G>A (p.Arg1594=) rs142823394 0.00130
NM_003036.4(SKI):c.1338C>T (p.Leu446=) rs148632347 0.00130
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile) rs35719192 0.00130
NM_000093.5(COL5A1):c.1539C>T (p.Pro513=) rs151173863 0.00129
NM_001267550.2(TTN):c.1137A>G (p.Arg379=) rs55972547 0.00129
NM_001267550.2(TTN):c.1938+10G>C rs190935632 0.00129
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691 0.00129
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys) rs61729664 0.00128
NM_000371.4(TTR):c.360C>T (p.Ser120=) rs150127220 0.00128
NM_001148.6(ANK2):c.11718G>A (p.Arg3906=) rs35724152 0.00128
NM_001943.5(DSG2):c.1875G>C (p.Leu625=) rs35743180 0.00128
NM_004655.4(AXIN2):c.1952C>T (p.Ser651Leu) rs74006838 0.00128
NM_005633.4(SOS1):c.213+16T>C rs150536159 0.00128
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_000631.5(NCF4):c.271+7G>A rs201881905 0.00127
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524 0.00127
NM_006258.4(PRKG1):c.1299C>T (p.Ser433=) rs145035655 0.00127
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile) rs144761622 0.00126
NM_000492.4(CFTR):c.3139+18C>T rs147945812 0.00126
NM_001134363.3(RBM20):c.1286T>C (p.Leu429Pro) rs61735272 0.00126
NM_001458.5(FLNC):c.1813+11G>T rs138716837 0.00126
NM_144670.6(A2ML1):c.2560C>T (p.His854Tyr) rs200763256 0.00126
NM_173076.3(ABCA12):c.485C>T (p.Ala162Val) rs149399707 0.00126
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_001267550.2(TTN):c.426C>T (p.Ala142=) rs56137037 0.00125
NM_006231.4(POLE):c.6675C>T (p.Arg2225=) rs149973644 0.00125
NM_007078.3(LDB3):c.689+10G>A rs45563234 0.00125
NM_053025.4(MYLK):c.4415+9A>G rs187964526 0.00125
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_000151.4(G6PC1):c.340+10C>A rs368450665 0.00124
NM_001267550.2(TTN):c.1398+16C>T rs144043280 0.00124
NM_001267550.2(TTN):c.61322A>G (p.Asn20441Ser) rs147580753 0.00124
NM_004006.3(DMD):c.1888A>G (p.Thr630Ala) rs72468692 0.00124
NM_004415.4(DSP):c.522T>C (p.Cys174=) rs144781697 0.00124
NM_006393.3(NEBL):c.624C>T (p.Pro208=) rs111854914 0.00124
NM_000455.5(STK11):c.598-8C>T rs373610101 0.00123
NM_000546.6(TP53):c.139C>T (p.Pro47Ser) rs1800371 0.00123
NM_001035.3(RYR2):c.5586C>T (p.Asp1862=) rs193922628 0.00123
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) rs142712751 0.00123
NM_001267550.2(TTN):c.34453+12C>A rs74930148 0.00123
NM_001386795.1(DTNA):c.604-14G>T rs397517447 0.00123
NM_002524.5(NRAS):c.225C>T (p.Gly75=) rs142739534 0.00123
NM_003239.5(TGFB3):c.744C>A (p.Ile248=) rs45477900 0.00123
NM_144670.6(A2ML1):c.2173G>A (p.Glu725Lys) rs192221816 0.00123
NM_144670.6(A2ML1):c.2463+13G>C rs151032368 0.00123
NM_170707.4(LMNA):c.1566C>T (p.Cys522=) rs149339264 0.00123
NM_005477.3(HCN4):c.546C>G (p.Pro182=) rs571671463 0.00122
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_006432.5(NPC2):c.88G>A (p.Val30Met) rs151220873 0.00122
NM_006767.4(LZTR1):c.666C>T (p.Gly222=) rs35767542 0.00122
NM_174936.4(PCSK9):c.835C>A (p.Pro279Thr) rs72646509 0.00122
NM_003098.3(SNTA1):c.984C>T (p.Pro328=) rs138863915 0.00121
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe) rs2227988 0.00121
NM_006270.5(RRAS):c.362A>G (p.Lys121Arg) rs138124318 0.00121
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=) rs45439097 0.00121
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr) rs11570082 0.00120
NM_001386795.1(DTNA):c.1000G>A (p.Val334Met) rs148123045 0.00120
NM_001999.4(FBN2):c.255-18C>A rs200300875 0.00120
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=) rs28763920 0.00120
NM_002471.4(MYH6):c.*8T>C rs201560522 0.00120
NM_033118.4(MYLK2):c.1584G>A (p.Arg528=) rs55807353 0.00120
NM_000093.5(COL5A1):c.-15C>A rs587780907 0.00119
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val) rs75789129 0.00119
NM_001035.3(RYR2):c.4740G>A (p.Pro1580=) rs79811945 0.00119
NM_001267550.2(TTN):c.26439C>T (p.Asn8813=) rs200088963 0.00119
NM_001370259.2(MEN1):c.1296G>A (p.Leu432=) rs138770431 0.00119
NM_001458.5(FLNC):c.4947C>T (p.Gly1649=) rs201069454 0.00119
NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter) rs11574410 0.00118
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=) rs199853721 0.00118
NM_145046.5(CALR3):c.398-6T>C rs376479901 0.00118
NM_000335.5(SCN5A):c.4297-14T>C rs56104887 0.00117
NM_001267550.2(TTN):c.94846C>T (p.Leu31616=) rs72648255 0.00117
NM_020661.4(AICDA):c.48A>G (p.Lys16=) rs186739900 0.00117
NM_174936.4(PCSK9):c.525C>T (p.Asp175=) rs148612296 0.00117
NM_001458.5(FLNC):c.6309C>T (p.Thr2103=) rs376992044 0.00116
NM_002471.4(MYH6):c.1122G>A (p.Ala374=) rs148091079 0.00116
NM_002474.3(MYH11):c.4506C>T (p.Leu1502=) rs76890940 0.00116
NM_017617.5(NOTCH1):c.2970-20G>A rs367927174 0.00116
NM_000138.5(FBN1):c.6073G>T (p.Ala2025Ser) rs113577372 0.00115
NM_000249.4(MLH1):c.-7C>T rs104894994 0.00115
NM_000337.6(SGCD):c.213G>A (p.Arg71=) rs74846539 0.00115
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250 0.00115
NM_139276.3(STAT3):c.551-4G>A rs80162032 0.00115
NM_000335.5(SCN5A):c.1236C>T (p.Val412=) rs45565936 0.00114
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385 0.00114
NM_001267550.2(TTN):c.98499C>T (p.Leu32833=) rs138968178 0.00114
NM_001943.5(DSG2):c.2703A>G (p.Lys901=) rs113591687 0.00114
NM_002485.5(NBN):c.1317A>G (p.Ile439Met) rs28538230 0.00114
NM_003664.5(AP3B1):c.375+11G>A rs190638302 0.00114
NM_004333.6(BRAF):c.1433-19A>G rs369635503 0.00114
NM_033337.3(CAV3):c.*20G>A rs137946394 0.00114
NM_001267550.2(TTN):c.33581-18T>C rs148392677 0.00113
NM_005751.5(AKAP9):c.6249C>T (p.Phe2083=) rs139770404 0.00113
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_001134363.3(RBM20):c.1992C>T (p.Pro664=) rs41292592 0.00112
NM_004655.4(AXIN2):c.2051C>T (p.Ala684Val) rs138287857 0.00112
NM_000338.3(SLC12A1):c.2787C>T (p.Ile929=) rs145464740 0.00111
NM_001267550.2(TTN):c.8314G>A (p.Val2772Met) rs143035953 0.00111
NM_001267550.2(TTN):c.89994G>A (p.Ser29998=) rs142891278 0.00111
NM_002474.3(MYH11):c.57C>T (p.Asn19=) rs148464745 0.00111
NM_005732.4(RAD50):c.3253A>G (p.Ile1085Val) rs143189763 0.00111
NM_005751.5(AKAP9):c.10767G>A (p.Leu3589=) rs56198613 0.00111
NM_006270.5(RRAS):c.379C>T (p.Leu127=) rs145907892 0.00111
NM_013975.4(LIG3):c.67C>T (p.Leu23=) rs144307769 0.00111
NM_001267550.2(TTN):c.107605A>G (p.Ser35869Gly) rs201835888 0.00110
NM_001267550.2(TTN):c.49371A>T (p.Leu16457=) rs146163169 0.00110
NM_001267550.2(TTN):c.66898G>A (p.Val22300Ile) rs200343420 0.00110
NM_001267550.2(TTN):c.107700A>G (p.Glu35900=) rs55832587 0.00109
NM_001267550.2(TTN):c.57648C>T (p.Ile19216=) rs55956577 0.00109
NM_002691.4(POLD1):c.33C>T (p.Pro11=) rs3218768 0.00109
NM_005591.4(MRE11):c.426C>T (p.Asp142=) rs3218740 0.00109
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile) rs146571352 0.00109
NM_000016.6(ACADM):c.678A>G (p.Ala226=) rs2229249 0.00108
NM_000336.3(SCNN1B):c.1152+10T>C rs72654341 0.00108
NM_000393.5(COL5A2):c.261G>A (p.Thr87=) rs142044596 0.00108
NM_001267550.2(TTN):c.15542G>C (p.Gly5181Ala) rs201185434 0.00108
NM_001267550.2(TTN):c.16055-9A>C rs368897883 0.00108
NM_001267550.2(TTN):c.91565-13C>T rs200847757 0.00108
NM_001267550.2(TTN):c.95148C>T (p.Thr31716=) rs140663434 0.00108
NM_003476.5(CSRP3):c.*12G>A rs45607943 0.00108
NM_005585.5(SMAD6):c.909G>A (p.Thr303=) rs139719094 0.00108
NM_006767.4(LZTR1):c.1395G>A (p.Ala465=) rs142418387 0.00108
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=) rs188357478 0.00108
NM_020975.6(RET):c.1197G>A (p.Pro399=) rs148371113 0.00108
NM_144670.6(A2ML1):c.4061+1G>A rs202067416 0.00108
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_001103.4(ACTN2):c.441G>A (p.Ser147=) rs150182164 0.00107
NM_001267550.2(TTN):c.41166C>T (p.Asp13722=) rs143049740 0.00107
NM_003322.6(TULP1):c.1486G>A (p.Ala496Thr) rs141980901 0.00107
NM_004646.4(NPHS1):c.3482-7A>T rs73928326 0.00107
NM_181507.2(HPS5):c.2562-14G>C rs199999276 0.00107
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=) rs61736827 0.00106
NM_000093.5(COL5A1):c.924+13C>T rs199836060 0.00106
NM_000337.6(SGCD):c.144G>C (p.Val48=) rs372152495 0.00106
NM_001267550.2(TTN):c.41958A>G (p.Ala13986=) rs186699871 0.00106
NM_001458.5(FLNC):c.6998-5C>T rs139030003 0.00106
NM_002474.3(MYH11):c.291C>T (p.Asn97=) rs113363750 0.00106
NM_006231.4(POLE):c.1323G>A (p.Pro441=) rs116573514 0.00106
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459 0.00106
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu) rs35912339 0.00106
NM_139076.3(ABRAXAS1):c.-4T>C rs202166386 0.00106
NM_000368.5(TSC1):c.-7C>T rs62621221 0.00105
NM_001267550.2(TTN):c.63165G>A (p.Pro21055=) rs72646852 0.00105
NM_001852.4(COL9A2):c.151-8T>C rs144162904 0.00105
NM_058216.3(RAD51C):c.195A>G (p.Arg65=) rs45511291 0.00105
NM_000090.4(COL3A1):c.2445T>G (p.Pro815=) rs199727625 0.00104
NM_000371.4(TTR):c.417G>A (p.Thr139=) rs2276382 0.00104
NM_001267550.2(TTN):c.24150C>T (p.Ser8050=) rs185062935 0.00104
NM_001267550.2(TTN):c.29605-12T>C rs143352892 0.00104
NM_001267550.2(TTN):c.30384T>C (p.Asp10128=) rs188584219 0.00104
NM_001927.4(DES):c.18G>A (p.Ser6=) rs199972656 0.00104
NM_003476.5(CSRP3):c.162G>A (p.Ser54=) rs112848043 0.00104
NM_005359.6(SMAD4):c.565C>T (p.Arg189Cys) rs140743238 0.00104
NM_024422.6(DSC2):c.1073C>T (p.Thr358Ile) rs139399951 0.00104
NM_000035.4(ALDOB):c.324+8C>G rs118168553 0.00103
NM_000352.6(ABCC8):c.1920G>A (p.Ala640=) rs146156937 0.00103
NM_000631.5(NCF4):c.172C>T (p.Arg58Cys) rs143532979 0.00103
NM_001018115.3(FANCD2):c.491+10G>A rs17032279 0.00103
NM_001267550.2(TTN):c.101406C>G (p.Val33802=) rs55802460 0.00103
NM_001267550.2(TTN):c.106638G>A (p.Arg35546=) rs56324602 0.00103
NM_001267550.2(TTN):c.72624A>G (p.Pro24208=) rs56293906 0.00103
NM_002691.4(POLD1):c.3054G>A (p.Val1018=) rs369613619 0.00103
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu) rs138329459 0.00103
NM_005591.4(MRE11):c.1798G>C (p.Glu600Gln) rs145415033 0.00103
NM_005911.6(MAT2A):c.813T>C (p.Tyr271=) rs149459768 0.00103
NM_024675.4(PALB2):c.1194G>A (p.Val398=) rs61755173 0.00103
NM_000051.4(ATM):c.2127T>C (p.Ile709=) rs56252953 0.00102
NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=) rs139544503 0.00102
NM_000719.7(CACNA1C):c.5609C>T (p.Thr1870Met) rs201777030 0.00102
NM_001267550.2(TTN):c.21668G>A (p.Arg7223His) rs138853909 0.00102
NM_001267550.2(TTN):c.80701A>G (p.Ile26901Val) rs201562505 0.00102
NM_000093.5(COL5A1):c.1953C>T (p.Ser651=) rs78215347 0.00101
NM_000179.3(MSH6):c.984C>T (p.Ser328=) rs138143769 0.00101
NM_000251.3(MSH2):c.819A>G (p.Val273=) rs146577635 0.00101
NM_000492.4(CFTR):c.3897A>G (p.Thr1299=) rs1800131 0.00101
NM_006939.4(SOS2):c.858+9A>G rs201701595 0.00101
NM_033118.4(MYLK2):c.102A>G (p.Lys34=) rs28763880 0.00101
NM_144670.6(A2ML1):c.200A>T (p.Glu67Val) rs190479708 0.00101
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624 0.00100
NM_000455.5(STK11):c.894C>A (p.Phe298Leu) rs199681533 0.00100
NM_001079.4(ZAP70):c.1737-3C>T rs56249179 0.00100
NM_001267550.2(TTN):c.79612A>G (p.Thr26538Ala) rs150682764 0.00100
NM_003239.5(TGFB3):c.164G>A (p.Ser55Asn) rs143229915 0.00100
NM_024334.3(TMEM43):c.392+16G>A rs150859949 0.00100
NM_032578.4(MYPN):c.3792C>T (p.Tyr1264=) rs142307556 0.00100
NM_000270.4(PNP):c.653-4T>C rs199866228 0.00099
NM_000535.7(PMS2):c.353+9A>C rs139990791 0.00099
NM_001267550.2(TTN):c.100059T>A (p.Ile33353=) rs56026369 0.00099
NM_001267550.2(TTN):c.39296-13C>T rs372380420 0.00099
NM_024675.4(PALB2):c.2365C>T (p.Leu789=) rs145805054 0.00099
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=) rs142034311 0.00098
NM_001103.4(ACTN2):c.126+14C>T rs373269478 0.00098
NM_001110556.2(FLNA):c.1239G>A (p.Thr413=) rs200278701 0.00098
NM_002691.4(POLD1):c.1620C>T (p.Gly540=) rs140216790 0.00098
NM_003664.5(AP3B1):c.3132-22G>A rs201198522 0.00098
NM_174936.4(PCSK9):c.757C>T (p.Leu253Phe) rs72646508 0.00098
NM_000038.6(APC):c.5790A>G (p.Gln1930=) rs141152252 0.00097
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655 0.00097
NM_000077.5(CDKN2A):c.-2G>A rs191394143 0.00097
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=) rs143011005 0.00097
NM_001103.4(ACTN2):c.2076C>T (p.Ile692=) rs144122893 0.00097
NM_001267550.2(TTN):c.107397C>T (p.Ser35799=) rs371480338 0.00097
NM_001267550.2(TTN):c.25704G>A (p.Arg8568=) rs150544093 0.00097
NM_001267550.2(TTN):c.74891C>T (p.Pro24964Leu) rs72646899 0.00097
NM_003036.4(SKI):c.798C>T (p.Ala266=) rs149642284 0.00097
NM_006258.4(PRKG1):c.1071A>G (p.Lys357=) rs75650199 0.00097
NM_006514.4(SCN10A):c.5295G>A (p.Ser1765=) rs145313578 0.00097
NM_006767.4(LZTR1):c.-11G>A rs370616172 0.00097
NM_006767.4(LZTR1):c.1719C>T (p.Ser573=) rs150897932 0.00097
NM_007373.4(SHOC2):c.*3T>C rs143187497 0.00097
NM_000038.6(APC):c.1825G>A (p.Val609Ile) rs147863331 0.00096
NM_000038.6(APC):c.2262T>G (p.Val754=) rs148987776 0.00096
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402 0.00096
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_000179.3(MSH6):c.3265T>C (p.Leu1089=) rs34490141 0.00096
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=) rs56394008 0.00096
NM_000719.7(CACNA1C):c.5199G>A (p.Ala1733=) rs200638007 0.00096
NM_001267550.2(TTN):c.104251G>C (p.Ala34751Pro) rs185683410 0.00096
NM_001267550.2(TTN):c.107961T>C (p.His35987=) rs377439315 0.00096
NM_001267550.2(TTN):c.7961G>A (p.Arg2654Lys) rs147207100 0.00096
NM_001267550.2(TTN):c.88721G>A (p.Arg29574His) rs111727915 0.00096
NM_001999.4(FBN2):c.3273T>C (p.Asn1091=) rs116741030 0.00096
NM_002834.5(PTPN11):c.526-17T>C rs375184329 0.00096
NM_004304.5(ALK):c.2148C>T (p.Ser716=) rs55733526 0.00096
NM_006939.4(SOS2):c.213+18A>T rs143888968 0.00096
NM_007078.3(LDB3):c.1653C>T (p.Cys551=) rs45581435 0.00096
NM_015311.3(OBSL1):c.2407+11A>G rs62191613 0.00096
NM_032578.4(MYPN):c.1460-14T>A rs201156035 0.00096
NM_001103.4(ACTN2):c.1657-16T>C rs148194175 0.00095
NM_001148.6(ANK2):c.5985G>A (p.Lys1995=) rs116652427 0.00095
NM_007078.3(LDB3):c.993G>A (p.Ala331=) rs140347820 0.00095
NM_000548.5(TSC2):c.5161-9C>T rs45515893 0.00094
NM_001148.6(ANK2):c.11716C>T (p.Arg3906Trp) rs121912706 0.00094
NM_001267550.2(TTN):c.29079G>A (p.Ala9693=) rs372997298 0.00094
NM_001267550.2(TTN):c.80322C>T (p.Ala26774=) rs55892928 0.00094
NM_001458.5(FLNC):c.6362-17C>G rs368901431 0.00094
NM_004415.4(DSP):c.88G>A (p.Val30Met) rs121912998 0.00094
NM_004655.4(AXIN2):c.1101C>T (p.Pro367=) rs141697521 0.00094
NM_006231.4(POLE):c.1347G>A (p.Thr449=) rs142373951 0.00094
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu) rs146170087 0.00094
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln) rs147549623 0.00093
NM_000090.4(COL3A1):c.1051-13G>A rs371934572 0.00093
NM_000159.4(GCDH):c.1011A>G (p.Ala337=) rs2229460 0.00093
NM_000719.7(CACNA1C):c.3049-10C>T rs186741807 0.00093
NM_001267550.2(TTN):c.33053G>A (p.Arg11018Gln) rs72650034 0.00093
NM_001267550.2(TTN):c.45499G>A (p.Val15167Ile) rs183245562 0.00093
NM_001267550.2(TTN):c.65776G>A (p.Val21926Met) rs145527033 0.00093
NM_005751.5(AKAP9):c.8286A>C (p.Lys2762Asn) rs144875383 0.00093
NM_013975.4(LIG3):c.1041+11C>T rs116677517 0.00093
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553 0.00093
NM_024422.6(DSC2):c.34G>A (p.Gly12Arg) rs568391206 0.00093
NM_000038.6(APC):c.8043G>C (p.Pro2681=) rs149347068 0.00092
NM_001005242.3(PKP2):c.156G>A (p.Lys52=) rs201210997 0.00092
NM_001267550.2(TTN):c.95582A>G (p.Tyr31861Cys) rs59148238 0.00092
NM_002471.4(MYH6):c.1083G>T (p.Gly361=) rs138928022 0.00092
NM_020297.4(ABCC9):c.2826T>C (p.Tyr942=) rs141025897 0.00092
NM_152594.3(SPRED1):c.675C>T (p.Ser225=) rs144764225 0.00092
NM_000039.3(APOA1):c.181G>A (p.Ala61Thr) rs12718465 0.00091
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776 0.00091
NM_001267550.2(TTN):c.58419A>G (p.Gln19473=) rs186563991 0.00091
NM_001267550.2(TTN):c.72379G>A (p.Glu24127Lys) rs149763294 0.00091
NM_003036.4(SKI):c.1851G>A (p.Glu617=) rs146789646 0.00091
NM_022114.4(PRDM16):c.573+17A>G rs370287328 0.00091
NM_139276.3(STAT3):c.1329C>T (p.Thr443=) rs147955721 0.00091
NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln) rs138842207 0.00090
NM_001267550.2(TTN):c.105228G>A (p.Ser35076=) rs55938627 0.00090
NM_001267550.2(TTN):c.25351+13C>G rs138362885 0.00090
NM_001458.5(FLNC):c.5418G>A (p.Ser1806=) rs376078394 0.00090
NM_002230.4(JUP):c.567C>T (p.Val189=) rs35297577 0.00090
NM_002471.4(MYH6):c.3297G>A (p.Glu1099=) rs144957142 0.00090
NM_004387.4(NKX2-5):c.355G>T (p.Ala119Ser) rs137852684 0.00090
NM_006767.4(LZTR1):c.906G>A (p.Ala302=) rs143128466 0.00090
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00089
NM_001110556.2(FLNA):c.1066-19C>T rs369196285 0.00089
NM_004329.3(BMPR1A):c.1395G>C (p.Pro465=) rs55845713 0.00089
NM_000465.4(BARD1):c.90T>A (p.Gly30=) rs150354152 0.00088
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585 0.00088
NM_001077653.2(TBX20):c.501C>T (p.Ser167=) rs75947625 0.00088
NM_001267550.2(TTN):c.83299C>A (p.Pro27767Thr) rs184643087 0.00088
NM_002691.4(POLD1):c.2628C>T (p.Ile876=) rs75874199 0.00088
NM_033337.3(CAV3):c.40G>A (p.Val14Ile) rs121909281 0.00088
NM_053025.4(MYLK):c.3832-6C>T rs185681684 0.00088
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_001384732.1(CPLANE1):c.3828T>C (p.Leu1276=) rs145520487 0.00087
NM_003238.6(TGFB2):c.114G>A (p.Glu38=) rs149215818 0.00087
NM_004415.4(DSP):c.7734C>T (p.Ser2578=) rs28763970 0.00087
NM_000264.5(PTCH1):c.2304C>T (p.Thr768=) rs1805156 0.00086
NM_000268.4(NF2):c.1386C>T (p.Arg462=) rs138354622 0.00086
NM_001035.3(RYR2):c.828A>G (p.Arg276=) rs180711819 0.00086
NM_001085049.3(MRAS):c.453G>A (p.Pro151=) rs149904534 0.00086
NM_001110219.3(GJB6):c.607A>G (p.Met203Val) rs200674715 0.00086
NM_001267550.2(TTN):c.70250T>C (p.Ile23417Thr) rs201836227 0.00086
NM_006258.4(PRKG1):c.312-12C>G rs371409852 0.00086
NM_006270.5(RRAS):c.573-12G>A rs201690554 0.00086
NM_006506.5(RASA2):c.2514G>C (p.Gly838=) rs114158487 0.00086
NM_014000.3(VCL):c.1572C>T (p.Ala524=) rs138566234 0.00086
NM_014714.4(IFT140):c.4319G>A (p.Arg1440His) rs34813273 0.00086
NM_022081.6(HPS4):c.133-12C>T rs199691721 0.00086
NM_078470.6(COX15):c.90+16G>A rs369863209 0.00086
NM_000238.4(KCNH2):c.1528C>T (p.Leu510=) rs75648145 0.00085
NM_001035.3(RYR2):c.231G>A (p.Ala77=) rs376225470 0.00084
NM_001148.6(ANK2):c.11538C>T (p.Leu3846=) rs45602336 0.00084
NM_004655.4(AXIN2):c.1985T>C (p.Leu662Pro) rs142476324 0.00084
NM_138694.4(PKHD1):c.9492C>T (p.Ser3164=) rs17752991 0.00084
NM_174936.4(PCSK9):c.1929C>T (p.His643=) rs145770391 0.00084
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783 0.00083
NM_000238.4(KCNH2):c.51C>G (p.Thr17=) rs144338227 0.00083
NM_000352.6(ABCC8):c.1707C>T (p.Ala569=) rs147623093 0.00083
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=) rs111606207 0.00083
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=) rs147955381 0.00083
NM_001267550.2(TTN):c.31757C>A (p.Pro10586Gln) rs200459347 0.00083
NM_001267550.2(TTN):c.59318A>G (p.Glu19773Gly) rs371719028 0.00083
NM_001999.4(FBN2):c.3974-19T>C rs112950479 0.00083
NM_002691.4(POLD1):c.612C>T (p.His204=) rs147881471 0.00083
NM_002878.4(RAD51D):c.919G>A (p.Glu307Lys) rs115031549 0.00083
NM_004415.4(DSP):c.741G>A (p.Ala247=) rs2806234 0.00083
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe) rs137961578 0.00083
NM_000204.5(CFI):c.482+8C>T rs371324158 0.00082
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770 0.00081
NM_000268.4(NF2):c.1416C>T (p.Leu472=) rs148776784 0.00081
NM_000393.5(COL5A2):c.2376A>C (p.Gly792=) rs35860166 0.00081
NM_001164508.2(NEB):c.9052G>A (p.Asp3018Asn) rs192098032 0.00081
NM_001267550.2(TTN):c.36701-16A>G rs577899845 0.00081
NM_001267550.2(TTN):c.91347T>C (p.Asp30449=) rs193022702 0.00081
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090 0.00081
NM_005502.4(ABCA1):c.720+6T>C rs188308962 0.00081
NM_032578.4(MYPN):c.1293C>A (p.Ile431=) rs147184158 0.00081
NM_000051.4(ATM):c.334G>A (p.Ala112Thr) rs146382972 0.00080
NM_001110556.2(FLNA):c.3805+16G>A rs201016252 0.00080
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975 0.00080
NM_001267550.2(TTN):c.32807-10T>A rs138192315 0.00080
NM_002471.4(MYH6):c.735+16C>T rs76202841 0.00080
NM_002474.3(MYH11):c.3102T>C (p.Ser1034=) rs181744522 0.00080
NM_006231.4(POLE):c.3747G>A (p.Val1249=) rs80290414 0.00080
NM_139076.3(ABRAXAS1):c.917T>C (p.Val306Ala) rs138986552 0.00080
NM_144670.6(A2ML1):c.2249A>C (p.Glu750Ala) rs200618482 0.00080
NM_144670.6(A2ML1):c.3269G>A (p.Gly1090Asp) rs200964353 0.00080
NM_181507.2(HPS5):c.109-10_109-9del rs557184781 0.00080
NM_000051.4(ATM):c.3517T>C (p.Leu1173=) rs141460670 0.00079
NM_000238.4(KCNH2):c.2617G>A (p.Gly873Ser) rs41314354 0.00079
NM_000321.3(RB1):c.920C>T (p.Thr307Ile) rs183898408 0.00079
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=) rs150015024 0.00079
NM_001267550.2(TTN):c.1537-4G>A rs56006378 0.00079
NM_024422.6(DSC2):c.2636A>G (p.Asp879Gly) rs143342988 0.00079
NM_032495.6(HOPX):c.264C>T (p.Ser88=) rs76751592 0.00079
NM_198576.4(AGRN):c.2266G>A (p.Ala756Thr) rs140764403 0.00079
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407 0.00078
NM_000238.4(KCNH2):c.2145+16C>T rs41314369 0.00078
NM_000271.5(NPC1):c.1947+8G>C rs66620415 0.00078
NM_001134363.3(RBM20):c.1179C>T (p.Pro393=) rs200588338 0.00078
NM_001267550.2(TTN):c.102103G>A (p.Asp34035Asn) rs144963736 0.00078
NM_001267550.2(TTN):c.54812-5A>G rs375343798 0.00078
NM_001267550.2(TTN):c.98683+7G>C rs141150066 0.00078
NM_002474.3(MYH11):c.4673C>T (p.Thr1558Met) rs111854563 0.00078
NM_017780.4(CHD7):c.7165-5A>G rs376076407 0.00078
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr) rs181255269 0.00078
NM_053025.4(MYLK):c.373+18C>T rs140559450 0.00078
NM_000117.3(EMD):c.396C>T (p.His132=) rs145985318 0.00077
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535 0.00077
NM_000548.5(TSC2):c.255C>T (p.Val85=) rs45517098 0.00077
NM_001458.5(FLNC):c.7990+9C>T rs566679569 0.00077
NM_002335.4(LRP5):c.1413-7T>A rs141889567 0.00077
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val) rs28763971 0.00077
NM_144670.6(A2ML1):c.2764+12C>G rs372457078 0.00077
NM_000051.4(ATM):c.3150T>C (p.Leu1050=) rs3092859 0.00076
NM_000138.5(FBN1):c.510C>T (p.Tyr170=) rs111671429 0.00076
NM_000214.3(JAG1):c.1349-11T>G rs80338240 0.00076
NM_000238.4(KCNH2):c.568G>A (p.Ala190Thr) rs150817714 0.00076
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr) rs370890951 0.00076
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly) rs138753870 0.00076
NM_000264.5(PTCH1):c.3387C>T (p.Gly1129=) rs28446339 0.00076
NM_000335.5(SCN5A):c.2437-13C>T rs45455099 0.00076
NM_000371.4(TTR):c.*3_*11del rs143948820 0.00076
NM_000432.4(MYL2):c.36C>T (p.Gly12=) rs139794370 0.00076
NM_001110556.2(FLNA):c.720+12C>T rs367894653 0.00076
NM_001267550.2(TTN):c.15860C>T (p.Thr5287Met) rs148551876 0.00076
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=) rs146662880 0.00076
NM_004655.4(AXIN2):c.270C>T (p.Asp90=) rs141655687 0.00076
NM_005188.4(CBL):c.2036+9G>T rs142704935 0.00076
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr) rs146517083 0.00076
NM_006506.5(RASA2):c.2215C>G (p.Pro739Ala) rs201360260 0.00076
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp) rs145855459 0.00076
NM_170707.4(LMNA):c.1489-16C>G rs201379016 0.00076
NM_174936.4(PCSK9):c.1851C>T (p.Ala617=) rs140364657 0.00076
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863 0.00075
NM_000138.5(FBN1):c.6998-33del rs563973570 0.00075
NM_001267550.2(TTN):c.21555C>A (p.Ile7185=) rs201155967 0.00075
NM_001267550.2(TTN):c.65775C>T (p.Ser21925=) rs72646867 0.00075
NM_003242.6(TGFBR2):c.1458C>T (p.Ser486=) rs139881155 0.00075
NM_014000.3(VCL):c.1348A>C (p.Arg450=) rs142128712 0.00075
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00074
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336 0.00074
NM_001267550.2(TTN):c.54903C>G (p.Gly18301=) rs190830121 0.00074
NM_003280.3(TNNC1):c.201C>T (p.Asp67=) rs150881554 0.00074
NM_000302.4(PLOD1):c.976-16C>T rs142329815 0.00073
NM_000393.5(COL5A2):c.2931+11C>T rs184002749 0.00073
NM_000891.3(KCNJ2):c.1065T>G (p.Leu355=) rs139564374 0.00073
NM_001943.5(DSG2):c.216+16G>A rs200239610 0.00073
NM_002755.4(MAP2K1):c.1069-16G>A rs146942812 0.00073
NM_004006.3(DMD):c.1731A>T (p.Glu577Asp) rs150199251 0.00073
NM_004415.4(DSP):c.4065T>C (p.Tyr1355=) rs148478829 0.00073
NM_013975.4(LIG3):c.2660C>T (p.Ser887Phe) rs35501315 0.00073
NM_017617.5(NOTCH1):c.1962C>T (p.Thr654=) rs61751554 0.00073
NM_138694.4(PKHD1):c.9215C>T (p.Ala3072Val) rs139306706 0.00073
NM_152594.3(SPRED1):c.207+15A>G rs377288061 0.00073
NM_001035.3(RYR2):c.7619A>G (p.His2540Arg) rs200105499 0.00072
NM_001371904.1(APOA5):c.165C>G (p.Thr55=) rs138300114 0.00072
NM_001371904.1(APOA5):c.962A>T (p.His321Leu) rs201201147 0.00072
NM_004100.5(EYA4):c.277+9G>A rs145320803 0.00072
NM_005502.4(ABCA1):c.3053A>G (p.Asp1018Gly) rs140365800 0.00072
NM_030662.4(MAP2K2):c.603C>T (p.Leu201=) rs148291450 0.00072
NM_144670.6(A2ML1):c.2234+16A>G rs560345386 0.00072
NM_001035.3(RYR2):c.1134C>T (p.Asp378=) rs193922621 0.00071
NM_001110556.2(FLNA):c.1191C>T (p.Ile397=) rs200048692 0.00071
NM_001164508.2(NEB):c.4720-18C>T rs79402065 0.00071
NM_001267550.2(TTN):c.106578T>A (p.Ser35526=) rs55838839 0.00071
NM_001267550.2(TTN):c.1246-16G>A rs72647847 0.00071
NM_001267550.2(TTN):c.44529C>T (p.His14843=) rs55973744 0.00071
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320 0.00071
NM_006270.5(RRAS):c.453+20C>T rs117957448 0.00071
NM_053025.4(MYLK):c.4014T>C (p.Pro1338=) rs55669734 0.00071
NM_000368.5(TSC1):c.1526G>A (p.Arg509Gln) rs118203543 0.00070
NM_000393.5(COL5A2):c.3364-17C>T rs201720941 0.00070
NM_000551.4(VHL):c.150C>G (p.Ala50=) rs61751580 0.00070
NM_000891.3(KCNJ2):c.213C>T (p.Asp71=) rs150671256 0.00070
NM_001267550.2(TTN):c.30224-8T>G rs72650010 0.00070
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_017617.5(NOTCH1):c.5500C>T (p.Leu1834=) rs73668312 0.00070
NM_024529.5(CDC73):c.1032T>G (p.Val344=) rs148612206 0.00070
NM_030662.4(MAP2K2):c.823C>T (p.Leu275=) rs145934142 0.00070
NM_030662.4(MAP2K2):c.844C>T (p.Pro282Ser) rs142307980 0.00070
NM_033118.4(MYLK2):c.173C>A (p.Ala58Asp) rs138130914 0.00070
NM_152594.3(SPRED1):c.939G>A (p.Thr313=) rs140644874 0.00070
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=) rs151027388 0.00069
NM_001267550.2(TTN):c.93900C>T (p.Ser31300=) rs200173934 0.00069
NM_004006.3(DMD):c.10262+1G>A rs145603325 0.00069
NM_006767.4(LZTR1):c.453C>T (p.Asp151=) rs142421078 0.00069
NM_000071.3(CBS):c.636C>T (p.Asn212=) rs2298758 0.00068
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu) rs121909034 0.00068
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154 0.00068
NM_001267550.2(TTN):c.106920G>A (p.Leu35640=) rs183923129 0.00068
NM_001999.4(FBN2):c.436+16G>A rs372098570 0.00068
NM_004333.6(BRAF):c.1332G>A (p.Arg444=) rs56101602 0.00068
NM_017617.5(NOTCH1):c.1389C>T (p.Asn463=) rs61733293 0.00068
NM_017617.5(NOTCH1):c.1669+15C>T rs576849563 0.00068
NM_000551.4(VHL):c.183C>G (p.Pro61=) rs63650860 0.00067
NM_000093.5(COL5A1):c.252C>T (p.Ser84=) rs151293601 0.00066
NM_000179.3(MSH6):c.1665A>G (p.Ala555=) rs146785465 0.00066
NM_001035.3(RYR2):c.11557+14C>T rs374155447 0.00066
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_001103.4(ACTN2):c.2649G>A (p.Ala883=) rs146426213 0.00066
NM_002471.4(MYH6):c.4986G>A (p.Ala1662=) rs77416370 0.00066
NM_004006.3(DMD):c.4233+2C>T rs147474070 0.00066
NM_004333.6(BRAF):c.981-20C>T rs374896031 0.00066
NM_005591.4(MRE11):c.120C>T (p.Leu40=) rs1805364 0.00066
NM_005633.4(SOS1):c.3391+7A>G rs201982464 0.00066
NM_007294.4(BRCA1):c.1427A>G (p.His476Arg) rs55720177 0.00066
NM_007294.4(BRCA1):c.81-12C>G rs80358055 0.00066
NM_000093.5(COL5A1):c.3115-14G>A rs368945793 0.00065
NM_000335.5(SCN5A):c.647C>T (p.Ser216Leu) rs41276525 0.00065
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=) rs148795690 0.00065
NM_001110556.2(FLNA):c.3756G>A (p.Ala1252=) rs186619828 0.00065
NM_001267550.2(TTN):c.40927+16C>T rs369965589 0.00065
NM_002474.3(MYH11):c.633+1942T>C rs199755371 0.00065
NM_003036.4(SKI):c.1593T>C (p.Pro531=) rs144279718 0.00065
NM_004484.4(GPC3):c.995A>G (p.Gln332Arg) rs78696048 0.00065
NM_005666.4(CFHR2):c.760C>T (p.Arg254Ter) rs41313888 0.00065
NM_005732.4(RAD50):c.671G>A (p.Arg224His) rs28903088 0.00065
NM_005751.5(AKAP9):c.4342A>G (p.Ile1448Val) rs150379637 0.00065
NM_006506.5(RASA2):c.2163C>T (p.Asn721=) rs144508155 0.00065
NM_006767.4(LZTR1):c.1353+8C>G rs75959644 0.00065
NM_007194.4(CHEK2):c.-6G>A rs376995740 0.00065
NM_022114.4(PRDM16):c.2634C>T (p.Pro878=) rs201338158 0.00065
NM_024334.3(TMEM43):c.780+16A>G rs146077457 0.00065
NM_030662.4(MAP2K2):c.1093-6T>C rs369681843 0.00065
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217 0.00064
NM_000335.5(SCN5A):c.630G>A (p.Val210=) rs193922727 0.00064
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714 0.00064
NM_001267550.2(TTN):c.96918C>T (p.Ile32306=) rs72648266 0.00064
NM_002834.5(PTPN11):c.526-8C>A rs184804143 0.00064
NM_004360.5(CDH1):c.2520C>T (p.Ser840=) rs140328601 0.00064
NM_005751.5(AKAP9):c.3223T>C (p.Leu1075=) rs143712699 0.00064
NM_014000.3(VCL):c.1555A>C (p.Ile519Leu) rs141033098 0.00064
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys) rs201312636 0.00063
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln) rs149514924 0.00063
NM_001035.3(RYR2):c.4347T>C (p.Asp1449=) rs368930040 0.00063
NM_001035.3(RYR2):c.615C>T (p.Ala205=) rs112680790 0.00063
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr) rs72629793 0.00063
NM_001267550.2(TTN):c.19191G>A (p.Thr6397=) rs140495148 0.00063
NM_001267550.2(TTN):c.62385C>A (p.Gly20795=) rs72646848 0.00063
NM_001267550.2(TTN):c.6790+12C>T rs200187117 0.00063
NM_001458.5(FLNC):c.3621C>T (p.Asn1207=) rs117864464 0.00063
NM_001999.4(FBN2):c.7841-16G>T rs201231807 0.00063
NM_003098.3(SNTA1):c.497-7C>T rs116972153 0.00063
NM_006270.5(RRAS):c.243C>T (p.Ile81=) rs116683551 0.00063
NM_006767.4(LZTR1):c.543G>A (p.Thr181=) rs151294009 0.00063
NM_017617.5(NOTCH1):c.3115G>A (p.Gly1039Ser) rs200207651 0.00063
NM_022114.4(PRDM16):c.2406G>A (p.Pro802=) rs368750536 0.00063
NM_144670.6(A2ML1):c.2243G>A (p.Gly748Glu) rs74582459 0.00063
NM_000321.3(RB1):c.1770T>C (p.Cys590=) rs145310579 0.00062
NM_000719.7(CACNA1C):c.1707A>G (p.Ala569=) rs375534041 0.00062
NM_001330.5(CTF1):c.274G>A (p.Ala92Thr) rs2234933 0.00062
NM_002471.4(MYH6):c.5652C>T (p.Ala1884=) rs200662317 0.00062
NM_002485.5(NBN):c.441C>T (p.Cys147=) rs137857529 0.00062
NM_005732.4(RAD50):c.921A>G (p.Leu307=) rs144639596 0.00062
NM_005911.6(MAT2A):c.-15C>T rs202218397 0.00062
NM_000393.5(COL5A2):c.3471+8A>T rs367643805 0.00061
NM_001267550.2(TTN):c.39211+6C>T rs187365142 0.00061
NM_001267550.2(TTN):c.75738A>G (p.Glu25246=) rs371344165 0.00061
NM_001267550.2(TTN):c.9703+17T>A rs377693857 0.00061
NM_002474.3(MYH11):c.2049C>T (p.His683=) rs150924100 0.00061
NM_006767.4(LZTR1):c.-6C>T rs188063382 0.00061
NM_006767.4(LZTR1):c.1723G>A (p.Asp575Asn) rs139368531 0.00061
NM_006939.4(SOS2):c.3602A>G (p.His1201Arg) rs555945363 0.00061
NM_006939.4(SOS2):c.621C>T (p.Ile207=) rs147109760 0.00061
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=) rs142459158 0.00061
NM_024334.3(TMEM43):c.*16C>T rs3796310 0.00061
NM_144670.6(A2ML1):c.3878A>G (p.Asn1293Ser) rs201478459 0.00061
NM_000393.5(COL5A2):c.2770-5A>G rs370313198 0.00060
NM_001105206.3(LAMA4):c.1035G>A (p.Thr345=) rs147069572 0.00060
NM_001105206.3(LAMA4):c.196-15G>C rs371906362 0.00060
NM_001267550.2(TTN):c.59322A>G (p.Pro19774=) rs188063446 0.00060
NM_003238.6(TGFB2):c.-5A>T rs200702935 0.00060
NM_005502.4(ABCA1):c.99A>G (p.Leu33=) rs141151519 0.00060
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_017780.4(CHD7):c.2835+8T>C rs202141372 0.00060
NM_000059.4(BRCA2):c.4071A>C (p.Leu1357=) rs140556653 0.00059
NM_000090.4(COL3A1):c.3202-14del rs767971610 0.00059
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00059
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004 0.00059
NM_001042492.3(NF1):c.7410T>C (p.Asn2470=) rs17881903 0.00059
NM_001110792.2(MECP2):c.411C>A (p.Ile137=) rs146107517 0.00059
NM_001267550.2(TTN):c.77205G>A (p.Val25735=) rs55857909 0.00059
NM_007294.4(BRCA1):c.4691T>C (p.Leu1564Pro) rs56119278 0.00059
NM_030662.4(MAP2K2):c.1074G>A (p.Ala358=) rs140896887 0.00059
NM_000093.5(COL5A1):c.996C>T (p.Asp332=) rs144763302 0.00058
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) rs200663253 0.00058
NM_000518.5(HBB):c.316-37G>T rs193922559 0.00058
NM_000719.7(CACNA1C):c.4317C>T (p.Asn1439=) rs183192651 0.00058
NM_001035.3(RYR2):c.3054T>C (p.Tyr1018=) rs113422365 0.00058
NM_001148.6(ANK2):c.6912T>C (p.Thr2304=) rs190680846 0.00058
NM_004360.5(CDH1):c.2104G>A (p.Glu702Lys) rs149127230 0.00058
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr) rs55808233 0.00058
NM_000152.5(GAA):c.1343G>C (p.Ser448Thr) rs145712232 0.00057
NM_001110556.2(FLNA):c.7756+8A>G rs201663443 0.00057
NM_001130987.2(DYSF):c.4993G>A (p.Val1665Ile) rs147056383 0.00057
NM_004360.5(CDH1):c.2439+10C>T rs35236080 0.00057
NM_006270.5(RRAS):c.154-4C>G rs372925843 0.00057
NM_015141.4(GPD1L):c.619-9C>G rs2044880 0.00057
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540 0.00056
NM_000038.6(APC):c.4336G>A (p.Ala1446Thr) rs146572883 0.00056
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp) rs138828590 0.00056
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396 0.00056
NM_001267550.2(TTN):c.296-14T>C rs199951296 0.00056
NM_001267550.2(TTN):c.32011+10C>G rs192002980 0.00056
NM_002474.3(MYH11):c.2520+8C>A rs8063833 0.00056
NM_002474.3(MYH11):c.2649G>A (p.Ser883=) rs150943863 0.00056
NM_002474.3(MYH11):c.429G>A (p.Lys143=) rs200672270 0.00056
NM_002691.4(POLD1):c.1138-8A>G rs41544624 0.00056
NM_020975.6(RET):c.262A>G (p.Ile88Val) rs141679950 0.00056
NM_024422.6(DSC2):c.270G>A (p.Glu90=) rs138643506 0.00056
NM_144670.6(A2ML1):c.2924T>C (p.Met975Thr) rs202179061 0.00056
NM_001134363.3(RBM20):c.448G>A (p.Ala150Thr) rs199868951 0.00055
NM_004281.4(BAG3):c.870C>G (p.Pro290=) rs140737221 0.00055
NM_004415.4(DSP):c.1778A>G (p.Asn593Ser) rs34239595 0.00055
NM_005502.4(ABCA1):c.1055-7T>C rs199586194 0.00055
NM_006270.5(RRAS):c.174C>T (p.Tyr58=) rs145282813 0.00055
NM_006790.3(MYOT):c.1190+12A>G rs183456886 0.00055
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr) rs116952709 0.00055
NM_138694.4(PKHD1):c.1675C>T (p.Arg559Trp) rs141384205 0.00055
NM_000090.4(COL3A1):c.114C>G (p.Ser38=) rs141241764 0.00054
NM_000548.5(TSC2):c.1609C>T (p.Arg537Cys) rs142257684 0.00054
NM_001110556.2(FLNA):c.3597G>A (p.Ser1199=) rs200258756 0.00054
NM_001267550.2(TTN):c.39689C>T (p.Ala13230Val) rs148140756 0.00054
NM_001267550.2(TTN):c.63589A>G (p.Ile21197Val) rs72646855 0.00054
NM_001267550.2(TTN):c.63876C>T (p.Asn21292=) rs199598302 0.00054
NM_001999.4(FBN2):c.4472-12T>A rs551686237 0.00054
NM_002317.7(LOX):c.918G>A (p.Leu306=) rs201494622 0.00054
NM_002755.4(MAP2K1):c.69C>T (p.Thr23=) rs140749690 0.00054
NM_004304.5(ALK):c.3939-8A>G rs3738869 0.00054
NM_030662.4(MAP2K2):c.303+8C>G rs199612401 0.00054
NM_139276.3(STAT3):c.2281T>C (p.Leu761=) rs142236792 0.00054
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
NM_000245.4(MET):c.607T>A (p.Ser203Thr) rs200861145 0.00053
NM_001035.3(RYR2):c.1548T>C (p.Asp516=) rs146129084 0.00053
NM_001042492.3(NF1):c.6379A>G (p.Ile2127Val) rs200022550 0.00053
NM_001330.5(CTF1):c.280C>T (p.Leu94=) rs397516648 0.00053
NM_002474.3(MYH11):c.3031T>C (p.Leu1011=) rs112861184 0.00053
NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile) rs142004123 0.00053
NM_006231.4(POLE):c.6495C>T (p.Arg2165=) rs114778730 0.00053
NM_006939.4(SOS2):c.700C>T (p.Leu234=) rs145848231 0.00053
NM_017617.5(NOTCH1):c.2136C>A (p.Thr712=) rs369346436 0.00053
NM_017617.5(NOTCH1):c.3249C>T (p.Cys1083=) rs139994842 0.00053
NM_053025.4(MYLK):c.5166T>C (p.Asp1722=) rs140870383 0.00053
NM_000527.5(LDLR):c.1167G>A (p.Thr389=) rs139066906 0.00052
NM_000719.7(CACNA1C):c.3156+17G>A rs201709484 0.00052
NM_001267550.2(TTN):c.97386C>T (p.Thr32462=) rs376810671 0.00052
NM_002471.4(MYH6):c.3903G>A (p.Ser1301=) rs201804323 0.00052
NM_002474.3(MYH11):c.1732A>G (p.Ile578Val) rs111936548 0.00052
NM_004006.3(DMD):c.832-20C>T rs201026834 0.00052
NM_006258.4(PRKG1):c.1963-16T>G rs376174664 0.00052
NM_007373.4(SHOC2):c.1162-16T>G rs376859485 0.00052
NM_000038.6(APC):c.3963C>T (p.Ser1321=) rs150595875 0.00051
NM_000071.3(CBS):c.954+20C>T rs372327925 0.00051
NM_000143.4(FH):c.77C>T (p.Pro26Leu) rs187226800 0.00051
NM_000264.5(PTCH1):c.4128C>T (p.Ser1376=) rs142148876 0.00051
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00051
NM_000548.5(TSC2):c.1593C>T (p.Ile531=) rs45517180 0.00051
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00051
NM_000719.7(CACNA1C):c.5091+17C>T rs375537358 0.00051
NM_001005242.3(PKP2):c.2168-6T>C rs368531764 0.00051
NM_001035.3(RYR2):c.10941T>G (p.Pro3647=) rs370332882 0.00051
NM_001103.4(ACTN2):c.927C>T (p.Pro309=) rs145411160 0.00051
NM_001148.6(ANK2):c.7971C>T (p.Ser2657=) rs146085234 0.00051
NM_001267550.2(TTN):c.21404-4A>G rs72648965 0.00051
NM_001267550.2(TTN):c.23378-10C>A rs72648975 0.00051
NM_001371904.1(APOA5):c.944C>T (p.Ala315Val) rs143292359 0.00051
NM_002382.5(MAX):c.*7C>T rs199514174 0.00051
NM_002474.3(MYH11):c.4240G>A (p.Ala1414Thr) rs112467954 0.00051
NM_002667.5(PLN):c.27C>T (p.Arg9=) rs145623013 0.00051
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056 0.00051
NM_006270.5(RRAS):c.*4A>G rs199675852 0.00051
NM_006767.4(LZTR1):c.2407-19C>T rs151123840 0.00051
NM_014000.3(VCL):c.2521G>C (p.Asp841His) rs150385900 0.00051
NM_017617.5(NOTCH1):c.6108C>T (p.Ala2036=) rs369167693 0.00051
NM_020297.4(ABCC9):c.372T>C (p.Asn124=) rs377384557 0.00051
NM_022089.4(ATP13A2):c.3405+9C>T rs374766933 0.00051
NM_144670.6(A2ML1):c.174_175dup (p.Lys59fs) rs745711489 0.00051
NM_181507.2(HPS5):c.220-9G>C rs200661298 0.00051
NM_000038.6(APC):c.3739G>A (p.Ala1247Thr) rs148223181 0.00050
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00050
NM_001042492.3(NF1):c.8151G>A (p.Pro2717=) rs2285895 0.00050
NM_001267550.2(TTN):c.65604T>C (p.Ala21868=) rs200825430 0.00050
NM_003239.5(TGFB3):c.517-16T>C rs3917176 0.00050
NM_005359.6(SMAD4):c.880A>G (p.Met294Val) rs7238500 0.00050
NM_005633.4(SOS1):c.345+12_345+13dup rs397517167 0.00050
NM_000218.3(KCNQ1):c.984C>T (p.Ile328=) rs140019543 0.00049
NM_001035.3(RYR2):c.9450-3T>C rs188671846 0.00049
NM_001037.5(SCN1B):c.448+112G>A rs72558026 0.00049
NM_001148.6(ANK2):c.231G>A (p.Val77=) rs149699185 0.00049
NM_001267550.2(TTN):c.39466C>A (p.Pro13156Thr) rs72650064 0.00049
NM_001267550.2(TTN):c.51809G>T (p.Ser17270Ile) rs200650668 0.00049
NM_001999.4(FBN2):c.5674+7A>G rs367877964 0.00049
NM_002230.4(JUP):c.1054+7A>T rs371988639 0.00049
NM_002230.4(JUP):c.297G>A (p.Ser99=) rs200976464 0.00049
NM_005633.4(SOS1):c.1203-13T>A rs145166996 0.00049
NM_006767.4(LZTR1):c.652-10C>A rs200169897 0.00049
NM_020297.4(ABCC9):c.4512+16C>T rs376147813 0.00049
NM_033337.3(CAV3):c.276C>T (p.Phe92=) rs72546669 0.00049
NM_174936.4(PCSK9):c.657+7A>C rs72646506 0.00049
NM_181486.4(TBX5):c.827G>A (p.Ser276Asn) rs147977741 0.00049
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838 0.00048
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745 0.00048
NM_000258.3(MYL3):c.482-14C>A rs201780962 0.00048
NM_000264.5(PTCH1):c.3687G>A (p.Thr1229=) rs139123130 0.00048
NM_001035.3(RYR2):c.10231-4T>C rs117180147 0.00048
NM_001130987.2(DYSF):c.4560C>T (p.Phe1520=) rs544993852 0.00048
NM_001267550.2(TTN):c.30181A>C (p.Lys10061Gln) rs184153985 0.00048
NM_001267550.2(TTN):c.67542T>G (p.Thr22514=) rs72646876 0.00048
NM_001267550.2(TTN):c.74895A>C (p.Gln24965His) rs201512527 0.00048
NM_001458.5(FLNC):c.5592C>T (p.Ala1864=) rs117517372 0.00048
NM_002474.3(MYH11):c.3973C>G (p.Gln1325Glu) rs150033906 0.00048
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_005188.4(CBL):c.1227+4C>T rs201747825 0.00048
NM_020632.3(ATP6V0A4):c.1498A>G (p.Ser500Gly) rs142818468 0.00048
NM_024334.3(TMEM43):c.705+7G>A rs201916031 0.00048
NM_032043.3(BRIP1):c.317G>A (p.Arg106His) rs143615668 0.00048
NM_144670.6(A2ML1):c.2029-8C>T rs7298954 0.00048
NM_174936.4(PCSK9):c.1491C>T (p.Gly497=) rs147599496 0.00048
NM_000059.4(BRCA2):c.9411T>G (p.Thr3137=) rs1799968 0.00047
NM_000256.3(MYBPC3):c.478C>T (p.Arg160Trp) rs193068692 0.00047
NM_000455.5(STK11):c.1185A>G (p.Thr395=) rs370207155 0.00047
NM_001035.3(RYR2):c.8209-3A>G rs376788358 0.00047
NM_001267550.2(TTN):c.54189T>C (p.Tyr18063=) rs2303834 0.00047
NM_001267550.2(TTN):c.59943C>A (p.Pro19981=) rs202017608 0.00047
NM_004415.4(DSP):c.8019C>T (p.Asp2673=) rs144275591 0.00047
NM_000051.4(ATM):c.1986T>C (p.Phe662=) rs1800055 0.00046
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_000162.5(GCK):c.*11C>T rs200698755 0.00046
NM_000251.3(MSH2):c.815C>T (p.Ala272Val) rs34136999 0.00046
NM_000393.5(COL5A2):c.1456-20T>C rs150724439 0.00046
NM_000545.8(HNF1A):c.1502-7C>T rs193922581 0.00046
NM_000548.5(TSC2):c.1839+6G>A rs45517204 0.00046
NM_001035.3(RYR2):c.1822C>T (p.His608Tyr) rs727504718 0.00046
NM_001035.3(RYR2):c.3888C>T (p.Asn1296=) rs373721253 0.00046
NM_001035.3(RYR2):c.5619A>G (p.Ala1873=) rs373282364 0.00046
NM_001110556.2(FLNA):c.3717C>T (p.Pro1239=) rs372265042 0.00046
NM_001110792.2(MECP2):c.855G>T (p.Gly285=) rs61750245 0.00046
NM_001848.3(COL6A1):c.738+14C>T rs374896651 0.00046
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633 0.00046
NM_002474.3(MYH11):c.3816G>A (p.Glu1272=) rs112990531 0.00046
NM_002691.4(POLD1):c.2103C>T (p.Tyr701=) rs201483538 0.00046
NM_004415.4(DSP):c.8301C>G (p.Thr2767=) rs145362059 0.00046
NM_004655.4(AXIN2):c.2052G>A (p.Ala684=) rs200573256 0.00046
NM_005502.4(ABCA1):c.3099G>C (p.Leu1033=) rs144726669 0.00046
NM_006939.4(SOS2):c.1071A>G (p.Gln357=) rs111961549 0.00046
NM_006939.4(SOS2):c.346-10C>G rs146395803 0.00046
NM_020433.5(JPH2):c.1137C>A (p.Ile379=) rs143158930 0.00046
NM_144670.6(A2ML1):c.105C>T (p.Ser35=) rs201185025 0.00046
NM_174936.4(PCSK9):c.1504-7C>T rs72646520 0.00046
NM_000059.4(BRCA2):c.5879G>A (p.Cys1960Tyr) rs56157628 0.00045
NM_000059.4(BRCA2):c.7976+12G>A rs81002827 0.00045
NM_000077.5(CDKN2A):c.273G>A (p.Leu91=) rs4987127 0.00045
NM_000090.4(COL3A1):c.1476A>C (p.Gly492=) rs111683983 0.00045
NM_000138.5(FBN1):c.5296+14G>A rs140650 0.00045
NM_000335.5(SCN5A):c.2437-5C>A rs72549411 0.00045
NM_001267550.2(TTN):c.25619C>T (p.Ser8540Phe) rs201523784 0.00045
NM_001458.5(FLNC):c.3966C>T (p.Gly1322=) rs200237564 0.00045
NM_002471.4(MYH6):c.1141+8G>T rs377327277 0.00045
NM_002471.4(MYH6):c.531-19T>A rs374174532 0.00045
NM_002691.4(POLD1):c.653G>A (p.Arg218His) rs150010804 0.00045
NM_004004.6(GJB2):c.*1C>T rs111033327 0.00045
NM_004360.5(CDH1):c.1744C>T (p.Leu582=) rs1801025 0.00045
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=) rs568700183 0.00045
NM_053025.4(MYLK):c.999G>A (p.Pro333=) rs13319347 0.00045
NM_144573.4(NEXN):c.732C>A (p.Pro244=) rs201171783 0.00045
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728 0.00044
NM_000093.5(COL5A1):c.2751G>A (p.Pro917=) rs200319017 0.00044
NM_000249.4(MLH1):c.1410-10T>G rs372053184 0.00044
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu) rs79777494 0.00044
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp) rs75321043 0.00044
NM_001267550.2(TTN):c.99345T>G (p.Gly33115=) rs56398525 0.00044
NM_001395413.1(POR):c.889G>A (p.Glu297Lys) rs11540674 0.00044
NM_001999.4(FBN2):c.5675-8dup rs767398234 0.00044
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile) rs142334798 0.00044
NM_006767.4(LZTR1):c.2022C>T (p.Asp674=) rs145303406 0.00044
NM_024334.3(TMEM43):c.279C>T (p.Gly93=) rs149883381 0.00044
NM_144670.6(A2ML1):c.2749T>C (p.Leu917=) rs200462659 0.00044
NM_000251.3(MSH2):c.1680T>C (p.Asn560=) rs200056411 0.00043
NM_000256.3(MYBPC3):c.3699G>A (p.Gln1233=) rs200162906 0.00043
NM_000335.5(SCN5A):c.1044C>T (p.Pro348=) rs370346797 0.00043
NM_001035.3(RYR2):c.1053A>G (p.Thr351=) rs187565743 0.00043
NM_001035.3(RYR2):c.13974A>G (p.Gly4658=) rs374606415 0.00043
NM_001048174.2(MUTYH):c.1365C>T (p.Thr455=) rs150269172 0.00043
NM_001267550.2(TTN):c.101376T>C (p.Tyr33792=) rs367732133 0.00043
NM_001267550.2(TTN):c.34856-17A>G rs188686309 0.00043
NM_001267550.2(TTN):c.44014+19G>C rs139264089 0.00043
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser) rs12877501 0.00043
NM_002471.4(MYH6):c.4905C>T (p.Asn1635=) rs143048583 0.00043
NM_004304.5(ALK):c.3057C>A (p.Val1019=) rs138406372 0.00043
NM_004333.6(BRAF):c.2127+3A>G rs371976102 0.00043
NM_006767.4(LZTR1):c.855C>T (p.Tyr285=) rs140612093 0.00043
NM_000048.4(ASL):c.392C>T (p.Thr131Met) rs143793815 0.00042
NM_000138.5(FBN1):c.2148A>G (p.Gly716=) rs141039922 0.00042
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg) rs61756468 0.00042
NM_000335.5(SCN5A):c.1008G>A (p.Pro336=) rs200285003 0.00042
NM_000719.7(CACNA1C):c.966C>T (p.His322=) rs112539787 0.00042
NM_001267550.2(TTN):c.39044-9T>A rs184888200 0.00042
NM_002294.3(LAMP2):c.*15T>C rs376806600 0.00042
NM_004360.5(CDH1):c.1138-3C>T rs36103202 0.00042
NM_004415.4(DSP):c.3123C>T (p.Leu1041=) rs149929637 0.00042
NM_006939.4(SOS2):c.2162-10C>T rs375702667 0.00042
NM_000093.5(COL5A1):c.2089-9C>T rs181246690 0.00041
NM_000093.5(COL5A1):c.924+14G>A rs200595318 0.00041
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003 0.00041
NM_001035.3(RYR2):c.12705C>T (p.Phe4235=) rs373606009 0.00041
NM_001035.3(RYR2):c.273+18G>A rs371912039 0.00041
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536 0.00041
NM_001110792.2(MECP2):c.870C>T (p.Ala290=) rs61750248 0.00041
NM_001267550.2(TTN):c.30433+11T>G rs199848546 0.00041
NM_002471.4(MYH6):c.210T>C (p.Thr70=) rs147397431 0.00041
NM_003000.3(SDHB):c.158G>A (p.Gly53Glu) rs34916635 0.00041
NM_004360.5(CDH1):c.1239C>T (p.Tyr413=) rs36074916 0.00041
NM_004415.4(DSP):c.2723G>A (p.Arg908His) rs142494121 0.00041
NM_006939.4(SOS2):c.2959-20T>C rs375042033 0.00041
NM_006939.4(SOS2):c.3744G>T (p.Trp1248Cys) rs138133010 0.00041
NM_006939.4(SOS2):c.3830T>C (p.Leu1277Pro) rs146802994 0.00041
NM_016203.4(PRKAG2):c.946+3A>G rs376173303 0.00041
NM_020297.4(ABCC9):c.2862C>T (p.Asp954=) rs2291550 0.00041
NM_022114.4(PRDM16):c.2142G>A (p.Lys714=) rs200167919 0.00041
NM_024334.3(TMEM43):c.45C>A (p.Val15=) rs150334659 0.00041
NM_144670.6(A2ML1):c.3003G>A (p.Arg1001=) rs200269317 0.00041
NM_144670.6(A2ML1):c.4076G>A (p.Arg1359His) rs200744656 0.00041
NM_000059.4(BRCA2):c.6842-20T>A rs81002811 0.00040
NM_000093.5(COL5A1):c.126C>T (p.Leu42=) rs149369116 0.00040
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074 0.00040
NM_000466.3(PEX1):c.2718+3A>G rs370536529 0.00040
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr) rs201386642 0.00040
NM_000527.5(LDLR):c.694+9G>A rs34093283 0.00040
NM_004281.4(BAG3):c.888C>T (p.His296=) rs139399890 0.00040
NM_005159.5(ACTC1):c.219C>T (p.Ile73=) rs376566924 0.00040
NM_017617.5(NOTCH1):c.3644-4G>A rs376161552 0.00040
NM_033028.5(BBS4):c.24+8C>T rs200055760 0.00040
NM_053025.4(MYLK):c.3653-10_3653-8del rs576620371 0.00040
NM_145046.5(CALR3):c.398-4G>A rs374008030 0.00040
NM_000038.6(APC):c.2847G>T (p.Met949Ile) rs147394539 0.00039
NM_000214.3(JAG1):c.894T>C (p.Asn298=) rs149897344 0.00039
NM_000251.3(MSH2):c.1168C>T (p.Leu390Phe) rs17224367 0.00039
NM_000535.7(PMS2):c.1560G>A (p.Ala520=) rs201167814 0.00039
NM_001035.3(RYR2):c.9519T>C (p.Thr3173=) rs371931287 0.00039
NM_001267550.2(TTN):c.32197+11G>A rs369265969 0.00039
NM_001384140.1(PCDH15):c.3451G>A (p.Gly1151Arg) rs149478475 0.00039
NM_001458.5(FLNC):c.6120C>T (p.Asp2040=) rs116974302 0.00039
NM_002335.4(LRP5):c.4511C>T (p.Pro1504Leu) rs201475647 0.00039
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile) rs56105708 0.00039
NM_003924.4(PHOX2B):c.639C>G (p.Gly213=) rs17879258 0.00039
NM_004006.3(DMD):c.6828C>T (p.Pro2276=) rs72466595 0.00039
NM_004415.4(DSP):c.4500G>T (p.Leu1500=) rs372881903 0.00039
NM_005188.4(CBL):c.1564-13C>T rs117902985 0.00039
NM_005902.4(SMAD3):c.66G>A (p.Glu22=) rs187952791 0.00039
NM_006506.5(RASA2):c.540C>T (p.Cys180=) rs148503095 0.00039
NM_006767.4(LZTR1):c.2208C>T (p.Pro736=) rs140879560 0.00039
NM_017617.5(NOTCH1):c.3326-11A>C rs377648586 0.00039
NM_017617.5(NOTCH1):c.7369C>G (p.Leu2457Val) rs61755043 0.00039
NM_017668.3(NDE1):c.948-6833A>G rs111858392 0.00039
NM_020297.4(ABCC9):c.3030T>C (p.Ala1010=) rs76102634 0.00039
NM_020975.6(RET):c.2037C>T (p.Pro679=) rs55862116 0.00039
NM_201596.3(CACNB2):c.1054+18G>A rs192538011 0.00039
NR_003051.4(RMRP):n.177G>A rs377566038 0.00039
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
NM_000053.4(ATP7B):c.2785A>G (p.Ile929Val) rs534960245 0.00038
NM_000077.5(CDKN2A):c.298G>T (p.Ala100Ser) rs200863613 0.00038
NM_000093.5(COL5A1):c.3690+6T>A rs375998368 0.00038
NM_000335.5(SCN5A):c.3748G>A (p.Val1250Met) rs199473600 0.00038
NM_000393.5(COL5A2):c.745-13G>A rs145442880 0.00038
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112 0.00038
NM_000520.6(HEXA):c.1435G>A (p.Ala479Thr) rs145012038 0.00038
NM_001035.3(RYR2):c.10381A>G (p.Met3461Val) rs147512481 0.00038
NM_001267550.2(TTN):c.26694G>T (p.Gly8898=) rs199525540 0.00038
NM_001267550.2(TTN):c.69231T>C (p.Leu23077=) rs12615797 0.00038
NM_005591.4(MRE11):c.1727G>A (p.Arg576Gln) rs139461096 0.00038
NM_006231.4(POLE):c.2026+9C>T rs373790607 0.00038
NM_017617.5(NOTCH1):c.2646A>T (p.Ala882=) rs61751550 0.00038
NM_020297.4(ABCC9):c.1200G>A (p.Thr400=) rs150096625 0.00038
NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=) rs147091980 0.00037
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049 0.00037
NM_001042492.3(NF1):c.731-6A>C rs369366499 0.00037
NM_003098.3(SNTA1):c.677G>A (p.Cys226Tyr) rs34479952 0.00037
NM_004415.4(DSP):c.3923G>A (p.Arg1308Gln) rs184154918 0.00037
NM_020297.4(ABCC9):c.407-13T>C rs199717786 0.00037
NM_032578.4(MYPN):c.1662A>C (p.Ala554=) rs71584488 0.00037
NM_033118.4(MYLK2):c.783G>A (p.Pro261=) rs144621796 0.00037
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met) rs34374438 0.00036
NM_000258.3(MYL3):c.307+15C>T rs184025552 0.00036
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu) rs118203504 0.00036
NM_000368.5(TSC1):c.250G>A (p.Ala84Thr) rs118203357 0.00036
NM_000492.4(CFTR):c.1920T>C (p.Phe640=) rs145877746 0.00036
NM_000719.7(CACNA1C):c.5639G>A (p.Arg1880Gln) rs182208896 0.00036
NM_001103.4(ACTN2):c.1975-12C>T rs371352710 0.00036
NM_001148.6(ANK2):c.2727T>A (p.Thr909=) rs144548535 0.00036
NM_001267550.2(TTN):c.64654A>G (p.Ile21552Val) rs201247592 0.00036
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met) rs145611185 0.00036
NM_002474.3(MYH11):c.471C>T (p.Ile157=) rs140267000 0.00036
NM_002709.3(PPP1CB):c.520+7T>C rs200836202 0.00036
NM_004006.3(DMD):c.3163-18T>C rs72468662 0.00036
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp) rs117671123 0.00036
NM_006767.4(LZTR1):c.2511C>T (p.Gly837=) rs202072955 0.00036
NM_017780.4(CHD7):c.6216C>G (p.Pro2072=) rs199828744 0.00036
NM_024422.6(DSC2):c.1914G>C (p.Gln638His) rs147742157 0.00036
NM_024426.6(WT1):c.216G>T (p.Gln72His) rs5030135 0.00036
NM_053025.4(MYLK):c.4929C>T (p.Asp1643=) rs138423692 0.00036
NM_139076.3(ABRAXAS1):c.33G>C (p.Ser11=) rs368088450 0.00036
NM_144670.6(A2ML1):c.357G>C (p.Gly119=) rs200671971 0.00036
NM_144670.6(A2ML1):c.4233C>T (p.Asn1411=) rs371033800 0.00036
NM_144670.6(A2ML1):c.63-4A>G rs200007710 0.00036
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000243.3(MEFV):c.1260+10C>T rs104895137 0.00035
NM_000455.5(STK11):c.1284G>A (p.Ser428=) rs369097329 0.00035
NM_000719.7(CACNA1C):c.1390+11G>A rs376570105 0.00035
NM_004006.3(DMD):c.1095A>C (p.Gln365His) rs1800266 0.00035
NM_017617.5(NOTCH1):c.4014G>A (p.Ala1338=) rs377217445 0.00035
NM_017617.5(NOTCH1):c.432C>T (p.Cys144=) rs373713957 0.00035
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_033118.4(MYLK2):c.549C>T (p.His183=) rs3746597 0.00035
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417 0.00034
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_000059.4(BRCA2):c.322A>C (p.Asn108His) rs80358567 0.00034
NM_000093.5(COL5A1):c.4683A>C (p.Gly1561=) rs149959668 0.00034
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365 0.00034
NM_000256.3(MYBPC3):c.471C>T (p.Phe157=) rs150291001 0.00034
NM_000335.5(SCN5A):c.5709G>A (p.Ser1903=) rs376826051 0.00034
NM_001267550.2(TTN):c.14998C>T (p.Arg5000Cys) rs369933152 0.00034
NM_001267550.2(TTN):c.55449C>T (p.Pro18483=) rs187366691 0.00034
NM_001909.5(CTSD):c.1071+12A>G rs113936232 0.00034
NM_001999.4(FBN2):c.4472-11A>T rs528062851 0.00034
NM_002524.5(NRAS):c.360G>A (p.Leu120=) rs143020946 0.00034
NM_002734.5(PRKAR1A):c.550-8C>T rs375936679 0.00034
NM_002769.5(PRSS1):c.121C>T (p.Leu41=) rs369646357 0.00034
NM_003673.4(TCAP):c.60C>G (p.Ala20=) rs146502276 0.00034
NM_006767.4(LZTR1):c.2190C>T (p.Gly730=) rs144092577 0.00034
NM_006790.3(MYOT):c.120T>A (p.Ile40=) rs139254363 0.00034
NM_006939.4(SOS2):c.2854G>A (p.Asp952Asn) rs200387871 0.00034
NM_007194.4(CHEK2):c.1176G>A (p.Ala392=) rs142692907 0.00034
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_017668.3(NDE1):c.948-2788A>G rs118072250 0.00034
NM_017668.3(NDE1):c.948-9293G>A rs374454501 0.00034
NM_020975.6(RET):c.1158G>A (p.Ala386=) rs373540097 0.00034
NM_030662.4(MAP2K2):c.1140C>T (p.Ala380=) rs146618055 0.00034
NM_030662.4(MAP2K2):c.893C>T (p.Pro298Leu) rs200371894 0.00034
NM_000038.6(APC):c.5027G>C (p.Arg1676Thr) rs143674116 0.00033
NM_000251.3(MSH2):c.2154A>G (p.Gln718=) rs63750810 0.00033
NM_000268.4(NF2):c.1113C>T (p.Asn371=) rs142459414 0.00033
NM_000368.5(TSC1):c.1079C>A (p.Thr360Asn) rs118203493 0.00033
NM_000548.5(TSC2):c.2743-3C>A rs45517264 0.00033
NM_001110556.2(FLNA):c.1044C>T (p.Pro348=) rs375821223 0.00033
NM_001110556.2(FLNA):c.4179G>A (p.Glu1393=) rs182074603 0.00033
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly) rs201057307 0.00033
NM_001379200.1(TBX1):c.540-16C>T rs200786105 0.00033
NM_002474.3(MYH11):c.1989G>A (p.Lys663=) rs138581000 0.00033
NM_004281.4(BAG3):c.230C>T (p.Pro77Leu) rs141355480 0.00033
NM_006231.4(POLE):c.6714C>T (p.Cys2238=) rs200082120 0.00033
NM_007373.4(SHOC2):c.704-16G>T rs185614302 0.00033
NM_174936.4(PCSK9):c.336G>A (p.Leu112=) rs79805678 0.00033
NM_000038.6(APC):c.2232T>G (p.Ser744=) rs145751759 0.00032
NM_000179.3(MSH6):c.3488A>T (p.Glu1163Val) rs63750252 0.00032
NM_000432.4(MYL2):c.342G>A (p.Leu114=) rs199572927 0.00032
NM_000451.4(SHOX):c.633+5C>G rs374178366 0.00032
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile) rs35691292 0.00032
NM_001042492.3(NF1):c.1933A>G (p.Met645Val) rs146051850 0.00032
NM_001103.4(ACTN2):c.2601C>T (p.Pro867=) rs147245615 0.00032
NM_001148.6(ANK2):c.8727C>T (p.Pro2909=) rs144821187 0.00032
NM_001458.5(FLNC):c.2568C>T (p.Pro856=) rs201611050 0.00032
NM_001999.4(FBN2):c.339G>A (p.Pro113=) rs144540627 0.00032
NM_001999.4(FBN2):c.7012+6C>T rs749376421 0.00032
NM_002474.3(MYH11):c.3669C>T (p.Asp1223=) rs111940956 0.00032
NM_002769.5(PRSS1):c.417C>T (p.Cys139=) rs141847266 0.00032
NM_002880.4(RAF1):c.321-14T>A rs3730270 0.00032
NM_005359.6(SMAD4):c.102A>G (p.Thr34=) rs146104321 0.00032
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys) rs104895016 0.00032
NM_005732.4(RAD50):c.2647C>T (p.Arg883Cys) rs138749920 0.00032
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser) rs80357015 0.00032
NM_015909.4(NBAS):c.915G>A (p.Met305Ile) rs562939436 0.00032
NM_030662.4(MAP2K2):c.93-20A>C rs189388604 0.00032
NM_000038.6(APC):c.4905G>A (p.Gly1635=) rs137988845 0.00031
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu) rs141010008 0.00031
NM_000093.5(COL5A1):c.3006+17C>T rs140528268 0.00031
NM_000093.5(COL5A1):c.3591C>T (p.Asp1197=) rs370349155 0.00031
NM_000138.5(FBN1):c.8363C>T (p.Thr2788Met) rs143007898 0.00031
NM_001032283.3(TMPO):c.565+1493A>G rs141347778 0.00031
NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val) rs146315101 0.00031
NM_001134363.3(RBM20):c.3648C>T (p.Ser1216=) rs554167951 0.00031
NM_001148.6(ANK2):c.7488A>G (p.Thr2496=) rs143161930 0.00031
NM_002471.4(MYH6):c.5112G>A (p.Ala1704=) rs150450178 0.00031
NM_004655.4(AXIN2):c.1685C>T (p.Pro562Leu) rs149764887 0.00031
NM_004985.5(KRAS):c.451-5565G>A rs200970347 0.00031
NM_005751.5(AKAP9):c.948A>G (p.Val316=) rs767404316 0.00031
NM_006939.4(SOS2):c.2640A>G (p.Ser880=) rs146730136 0.00031
NM_006949.4(STXBP2):c.497C>T (p.Thr166Met) rs181216956 0.00031
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_017617.5(NOTCH1):c.186G>C (p.Pro62=) rs374320445 0.00031
NM_020297.4(ABCC9):c.2154C>T (p.Ile718=) rs74067815 0.00031
NM_024334.3(TMEM43):c.442+7G>A rs373590238 0.00031
NM_053025.4(MYLK):c.711C>T (p.Asn237=) rs149407805 0.00031
NM_053025.4(MYLK):c.754+17G>A rs146661440 0.00031
NM_206933.4(USH2A):c.9915G>C (p.Glu3305Asp) rs145278250 0.00031
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser) rs55870064 0.00030
NM_000368.5(TSC1):c.1977G>A (p.Ala659=) rs35958226 0.00030
NM_001110556.2(FLNA):c.5589C>T (p.Val1863=) rs200787122 0.00030
NM_001110792.2(MECP2):c.1108G>A (p.Ala370Thr) rs147017239 0.00030
NM_001267550.2(TTN):c.80271C>T (p.Val26757=) rs199875474 0.00030
NM_001267550.2(TTN):c.94863C>T (p.His31621=) rs373871146 0.00030
NM_001927.4(DES):c.924C>T (p.Asn308=) rs578191306 0.00030
NM_001943.5(DSG2):c.1280+18G>C rs141175168 0.00030
NM_002317.7(LOX):c.534T>C (p.Ser178=) rs144768703 0.00030
NM_002471.4(MYH6):c.4611G>A (p.Val1537=) rs142983918 0.00030
NM_002485.5(NBN):c.1690G>A (p.Glu564Lys) rs72550742 0.00030
NM_002691.4(POLD1):c.714G>A (p.Thr238=) rs149096523 0.00030
NM_003280.3(TNNC1):c.108C>A (p.Ile36=) rs202000367 0.00030
NM_030662.4(MAP2K2):c.303+12G>A rs376432107 0.00030
NM_000039.3(APOA1):c.*19C>G rs187335584 0.00029
NM_000218.3(KCNQ1):c.1794+11G>A rs186188610 0.00029
NM_000238.4(KCNH2):c.3366G>A (p.Pro1122=) rs371473271 0.00029
NM_000251.3(MSH2):c.471C>A (p.Gly157=) rs61756463 0.00029
NM_000268.4(NF2):c.1340+8G>T rs370604189 0.00029
NM_000335.5(SCN5A):c.3388-16A>T rs376625229 0.00029
NM_000335.5(SCN5A):c.3837+17G>A rs45466091 0.00029
NM_000465.4(BARD1):c.346C>T (p.His116Tyr) rs144856889 0.00029
NM_000548.5(TSC2):c.5068+9G>A rs45445593 0.00029
NM_001042492.3(NF1):c.1976G>A (p.Arg659Gln) rs151138158 0.00029
NM_001110556.2(FLNA):c.2449C>T (p.Pro817Ser) rs200053635 0.00029
NM_001267550.2(TTN):c.4645+8G>T rs144456585 0.00029
NM_001267550.2(TTN):c.73604C>A (p.Ser24535Tyr) rs201804005 0.00029
NM_001267550.2(TTN):c.88306+8T>C rs369690199 0.00029
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly) rs199665922 0.00029
NM_002755.4(MAP2K1):c.1068+19G>A rs188235318 0.00029
NM_002834.5(PTPN11):c.48A>G (p.Ala16=) rs372736227 0.00029
NM_002880.4(RAF1):c.212A>G (p.Asn71Ser) rs184022679 0.00029
NM_003242.6(TGFBR2):c.263+17A>C rs34771516 0.00029
NM_006231.4(POLE):c.5496T>C (p.Leu1832=) rs147543146 0.00029
NM_006270.5(RRAS):c.345-4G>A rs377672475 0.00029
NM_006939.4(SOS2):c.3952C>T (p.Pro1318Ser) rs140995728 0.00029
NM_007078.3(LDB3):c.1035C>T (p.Ile345=) rs121908336 0.00029
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_007294.4(BRCA1):c.2368A>G (p.Thr790Ala) rs41286298 0.00029
NM_017617.5(NOTCH1):c.4548C>T (p.Phe1516=) rs199740882 0.00029
NM_020297.4(ABCC9):c.1557G>A (p.Glu519=) rs143346402 0.00029
NM_020297.4(ABCC9):c.2262T>C (p.Tyr754=) rs145561881 0.00029
NM_030662.4(MAP2K2):c.525C>T (p.Ile175=) rs150833333 0.00029
NM_144670.6(A2ML1):c.2841G>A (p.Thr947=) rs201562692 0.00029
NM_144670.6(A2ML1):c.3502+11C>T rs138636296 0.00029
NM_174936.4(PCSK9):c.399+4A>G rs376653409 0.00029
NM_201596.3(CACNB2):c.967G>A (p.Ala323Thr) rs561197163 0.00029
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_000093.5(COL5A1):c.2331+16G>A rs199654385 0.00028
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr) rs201407189 0.00028
NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile) rs140537304 0.00028
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875 0.00028
NM_000546.5(TP53):c.319T>C (p.Tyr107His) rs368771578 0.00028
NM_001035.3(RYR2):c.10231-5C>T rs186326951 0.00028
NM_001035.3(RYR2):c.14809-20C>T rs141119268 0.00028
NM_001110792.2(MECP2):c.813C>T (p.Ala271=) rs1042870 0.00028
NM_001134363.3(RBM20):c.1378T>C (p.Leu460=) rs374014662 0.00028
NM_001267550.2(TTN):c.17543G>A (p.Gly5848Glu) rs185962498 0.00028
NM_002471.4(MYH6):c.2401A>G (p.Ile801Val) rs75487328 0.00028
NM_002474.3(MYH11):c.1512C>T (p.Ile504=) rs149630866 0.00028
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr) rs142822590 0.00028
NM_005502.4(ABCA1):c.3204C>T (p.Arg1068=) rs55814314 0.00028
NM_005502.4(ABCA1):c.6018C>T (p.His2006=) rs367815303 0.00028
NM_006129.5(BMP1):c.433+12A>G rs201334369 0.00028
NM_006502.3(POLH):c.1603A>G (p.Lys535Glu) rs56307355 0.00028
NM_007294.4(BRCA1):c.548-17G>T rs80358014 0.00028
NM_014476.6(PDLIM3):c.331-16C>T rs200663921 0.00028
NM_053025.4(MYLK):c.5114+8G>A rs202229368 0.00028
NM_144670.6(A2ML1):c.1602G>C (p.Leu534=) rs146213855 0.00028
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210 0.00027
NM_000179.3(MSH6):c.-18G>T rs199913053 0.00027
NM_000465.4(BARD1):c.1491A>G (p.Pro497=) rs61754117 0.00027
NM_000719.7(CACNA1C):c.846C>T (p.Tyr282=) rs200847105 0.00027
NM_001105206.3(LAMA4):c.1158G>A (p.Glu386=) rs147894075 0.00027
NM_001105206.3(LAMA4):c.1614G>A (p.Ala538=) rs143587921 0.00027
NM_001267550.2(TTN):c.30433+15A>T rs371872220 0.00027
NM_001267550.2(TTN):c.42329T>C (p.Val14110Ala) rs34706299 0.00027
NM_002834.3(PTPN11):c.*13A>G rs201957261 0.00027
NM_004360.5(CDH1):c.303C>T (p.Tyr101=) rs150789339 0.00027
NM_006939.4(SOS2):c.294A>G (p.Lys98=) rs149713664 0.00027
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu) rs28897688 0.00027
NM_053025.4(MYLK):c.2127G>A (p.Val709=) rs138575251 0.00027
NM_206933.4(USH2A):c.8357T>C (p.Phe2786Ser) rs111033262 0.00027
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=) rs80359788 0.00026
NM_000059.4(BRCA2):c.516+14C>T rs182828913 0.00026
NM_000152.5(GAA):c.1286A>G (p.Gln429Arg) rs200294882 0.00026
NM_000179.3(MSH6):c.4002-10T>A rs545466048 0.00026
NM_000305.3(PON2):c.695+14T>C rs372870308 0.00026
NM_000393.5(COL5A2):c.322+8T>C rs372227642 0.00026
NM_000393.5(COL5A2):c.4392T>C (p.Tyr1464=) rs142544320 0.00026
NM_000458.4(HNF1B):c.1207-18T>C rs199849203 0.00026
NM_000478.6(ALPL):c.1002C>T (p.Gly334=) rs370122334 0.00026
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=) rs45475501 0.00026
NM_001035.3(RYR2):c.14757-19A>G rs190533014 0.00026
NM_001035.3(RYR2):c.8831-9A>C rs187977513 0.00026
NM_001042492.3(NF1):c.7554C>G (p.Ala2518=) rs141897690 0.00026
NM_001103.4(ACTN2):c.1406+8C>T rs397516567 0.00026
NM_002230.4(JUP):c.486G>A (p.Ala162=) rs113317262 0.00026
NM_002474.3(MYH11):c.4197G>A (p.Lys1399=) rs113302393 0.00026
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser) rs185661462 0.00026
NM_002734.5(PRKAR1A):c.678C>T (p.Ile226=) rs200592054 0.00026
NM_002834.5(PTPN11):c.333-3T>C rs146749153 0.00026
NM_004281.4(BAG3):c.898G>A (p.Asp300Asn) rs78439745 0.00026
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn) rs200894246 0.00026
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866 0.00026
NM_006506.5(RASA2):c.2493A>G (p.Arg831=) rs142634033 0.00026
NM_014697.3(NOS1AP):c.576C>T (p.Ser192=) rs146496289 0.00026
NM_020433.5(JPH2):c.1233G>A (p.Glu411=) rs143061111 0.00026
NM_030662.4(MAP2K2):c.678C>T (p.Ser226=) rs200874968 0.00026
NM_053025.4(MYLK):c.1609G>A (p.Val537Ile) rs199988497 0.00026
NM_144670.6(A2ML1):c.2026C>T (p.Arg676Trp) rs200503836 0.00026
NM_144670.6(A2ML1):c.814C>T (p.Arg272Trp) rs201215628 0.00026
NM_152594.3(SPRED1):c.377-10A>G rs376134678 0.00026
NM_000432.4(MYL2):c.275-14G>C rs375703502 0.00025
NM_000535.7(PMS2):c.1242C>T (p.Asp414=) rs142839559 0.00025
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_000546.6(TP53):c.704A>G (p.Asn235Ser) rs144340710 0.00025
NM_000719.7(CACNA1C):c.3747C>T (p.Ile1249=) rs370576211 0.00025
NM_000719.7(CACNA1C):c.618G>A (p.Gly206=) rs200602896 0.00025
NM_001035.3(RYR2):c.6689-12T>C rs370972311 0.00025
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met) rs140731963 0.00025
NM_001677.4(ATP1B1):c.837C>T (p.Tyr279=) rs145238933 0.00025
NM_002471.4(MYH6):c.642+16C>T rs547762012 0.00025
NM_002485.5(NBN):c.939G>A (p.Ala313=) rs145750430 0.00025
NM_002524.5(NRAS):c.112-8A>G rs9724626 0.00025
NM_002755.4(MAP2K1):c.6C>T (p.Pro2=) rs377720622 0.00025
NM_002880.4(RAF1):c.909A>C (p.Thr303=) rs5746219 0.00025
NM_004006.3(DMD):c.8076A>G (p.Gln2692=) rs144518527 0.00025
NM_004333.6(BRAF):c.64G>A (p.Asp22Asn) rs397507456 0.00025
NM_004985.5(KRAS):c.24A>G (p.Val8=) rs147406419 0.00025
NM_005751.5(AKAP9):c.3952+14A>G rs147955593 0.00025
NM_005902.4(SMAD3):c.207-10G>A rs201912204 0.00025
NM_006231.4(POLE):c.1405C>T (p.Leu469=) rs368303888 0.00025
NM_006258.4(PRKG1):c.840+14G>T rs146372571 0.00025
NM_007078.3(LDB3):c.1971C>T (p.Cys657=) rs140552419 0.00025
NM_012186.3(FOXE3):c.831C>T (p.Gly277=) rs527783871 0.00025
NM_053025.4(MYLK):c.2253C>T (p.Thr751=) rs138777049 0.00025
NM_144670.6(A2ML1):c.728+13G>A rs373095814 0.00025
NM_000038.6(APC):c.5274T>A (p.Ser1758=) rs199600387 0.00024
NM_000059.4(BRCA2):c.6455C>A (p.Ser2152Tyr) rs80358881 0.00024
NM_000245.4(MET):c.967A>G (p.Ser323Gly) rs201467281 0.00024
NM_000489.6(ATRX):c.1825C>G (p.Pro609Ala) rs186742436 0.00024
NM_000518.5(HBB):c.316-45G>C rs140033163 0.00024
NM_000545.8(HNF1A):c.586A>G (p.Thr196Ala) rs139712739 0.00024
NM_000891.3(KCNJ2):c.372C>T (p.Ser124=) rs138877244 0.00024
NM_001035.3(RYR2):c.10554+16T>C rs370288739 0.00024
NM_001035.3(RYR2):c.12492G>A (p.Gln4164=) rs377293019 0.00024
NM_001042492.3(NF1):c.369C>G (p.Thr123=) rs146691765 0.00024
NM_001267550.2(TTN):c.15552C>T (p.Thr5184=) rs146353237 0.00024
NM_002294.3(LAMP2):c.741+11C>T rs149155417 0.00024
NM_002471.4(MYH6):c.4359+10G>A rs368183862 0.00024
NM_002474.3(MYH11):c.120G>A (p.Ser40=) rs144275008 0.00024
NM_002474.3(MYH11):c.2802G>A (p.Glu934=) rs138977949 0.00024
NM_002755.4(MAP2K1):c.1068+9A>G rs368800650 0.00024
NM_002755.4(MAP2K1):c.237C>T (p.Gly79=) rs148656020 0.00024
NM_002880.4(RAF1):c.1537-11G>A rs182394722 0.00024
NM_004333.6(BRAF):c.-5A>G rs71645936 0.00024
NM_004612.4(TGFBR1):c.810T>C (p.Asn270=) rs147388628 0.00024
NM_005911.6(MAT2A):c.324A>T (p.Val108=) rs377763337 0.00024
NM_007294.4(BRCA1):c.4358-10C>T rs80358111 0.00024
NM_017617.5(NOTCH1):c.1950C>T (p.Cys650=) rs147086700 0.00024
NM_024529.5(CDC73):c.-10G>T rs188082584 0.00024
NM_030662.4(MAP2K2):c.1194C>T (p.Thr398=) rs144850779 0.00024
NM_205861.3(DHDDS):c.908C>T (p.Ser303Leu) rs141852437 0.00024
NM_000038.6(APC):c.6526T>C (p.Leu2176=) rs183468041 0.00023
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_000059.4(BRCA2):c.5170A>G (p.Ile1724Val) rs35335654 0.00023
NM_000090.4(COL3A1):c.1815+5G>A rs146652498 0.00023
NM_000179.3(MSH6):c.3438+11_3438+14del rs377746844 0.00023
NM_000368.5(TSC1):c.615T>C (p.Ser205=) rs118203414 0.00023
NM_000455.5(STK11):c.1194G>A (p.Ala398=) rs184271025 0.00023
NM_000719.7(CACNA1C):c.5478G>A (p.Ala1826=) rs200283756 0.00023
NM_001267550.2(TTN):c.59344+3G>A rs142095604 0.00023
NM_001370259.2(MEN1):c.-6G>A rs768088337 0.00023
NM_002230.4(JUP):c.546G>A (p.Ser182=) rs202038498 0.00023
NM_002471.4(MYH6):c.2430-4C>A rs376527296 0.00023
NM_003239.5(TGFB3):c.647-12C>G rs61762490 0.00023
NM_004646.4(NPHS1):c.65C>T (p.Ala22Val) rs116617171 0.00023
NM_017617.5(NOTCH1):c.2349C>T (p.Phe783=) rs200092299 0.00023
NM_017617.5(NOTCH1):c.6975T>C (p.Pro2325=) rs200814776 0.00023
NM_139276.3(STAT3):c.825T>G (p.Leu275=) rs200098006 0.00023
NM_144670.6(A2ML1):c.1477T>C (p.Leu493=) rs200088686 0.00023
NM_000030.3(AGXT):c.145A>C (p.Met49Leu) rs74205173 0.00022
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935 0.00022
NM_000059.4(BRCA2):c.9502-12T>G rs81002803 0.00022
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg) rs63750702 0.00022
NM_000432.4(MYL2):c.353+12C>A rs186323458 0.00022
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201 0.00022
NM_000546.6(TP53):c.216C>T (p.Pro72=) rs56275308 0.00022
NM_000719.7(CACNA1C):c.4726+9G>A rs369267978 0.00022
NM_001148.6(ANK2):c.10531C>T (p.Leu3511=) rs148462839 0.00022
NM_001613.4(ACTA2):c.455-18C>T rs139684702 0.00022
NM_001999.4(FBN2):c.5670T>C (p.Cys1890=) rs74811638 0.00022
NM_002317.7(LOX):c.395C>T (p.Ser132Phe) rs141394149 0.00022
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala) rs116093741 0.00022
NM_004360.5(CDH1):c.2589C>T (p.Asn863=) rs115817750 0.00022
NM_004360.5(CDH1):c.33G>C (p.Leu11=) rs730881654 0.00022
NM_005633.4(SOS1):c.1770G>A (p.Glu590=) rs553331572 0.00022
NM_006258.4(PRKG1):c.1002-9G>A rs200218082 0.00022
NM_006361.6(HOXB13):c.567C>T (p.Asn189=) rs143945091 0.00022
NM_006361.6(HOXB13):c.602-9G>A rs148901331 0.00022
NM_017617.5(NOTCH1):c.3198G>A (p.Ser1066=) rs199892488 0.00022
NM_017668.3(NDE1):c.948-3127C>T rs181115969 0.00022
NM_053025.4(MYLK):c.5121C>T (p.Arg1707=) rs144436556 0.00022
NM_144670.6(A2ML1):c.1328G>A (p.Arg443Gln) rs142219499 0.00022
NM_174936.4(PCSK9):c.993C>T (p.Pro331=) rs376753957 0.00022
NM_000038.6(APC):c.1419G>A (p.Gln473=) rs141579422 0.00021
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp) rs140493115 0.00021
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_000090.4(COL3A1):c.1977+9C>T rs184223621 0.00021
NM_000093.5(COL5A1):c.1440C>T (p.Pro480=) rs150940930 0.00021
NM_000093.5(COL5A1):c.3888G>A (p.Pro1296=) rs375631252 0.00021
NM_000548.5(TSC2):c.3420C>T (p.Gly1140=) rs373968155 0.00021
NM_001148.6(ANK2):c.8388G>A (p.Pro2796=) rs369684289 0.00021
NM_001267550.2(TTN):c.8589A>G (p.Glu2863=) rs72647883 0.00021
NM_001927.4(DES):c.736-8C>A rs140375681 0.00021
NM_002734.5(PRKAR1A):c.489T>C (p.Thr163=) rs143672551 0.00021
NM_002878.4(RAD51D):c.983C>T (p.Thr328Ile) rs138969595 0.00021
NM_003242.6(TGFBR2):c.1548G>A (p.Thr516=) rs140662877 0.00021
NM_004006.3(DMD):c.2827C>T (p.Arg943Cys) rs199986217 0.00021
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys) rs200310662 0.00021
NM_004985.5(KRAS):c.264A>G (p.Lys88=) rs370920665 0.00021
NM_005751.5(AKAP9):c.11580T>G (p.Gly3860=) rs756398963 0.00021
NM_006231.4(POLE):c.519C>T (p.Ala173=) rs187690610 0.00021
NM_006231.4(POLE):c.561C>T (p.Tyr187=) rs143938822 0.00021
NM_006767.4(LZTR1):c.2301C>T (p.Asn767=) rs112615858 0.00021
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile) rs80357090 0.00021
NM_013975.4(LIG3):c.1383G>A (p.Val461=) rs3135988 0.00021
NM_014000.3(VCL):c.1788A>C (p.Ser596=) rs199582103 0.00021
NM_017617.5(NOTCH1):c.2970-9C>T rs568052902 0.00021
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=) rs61743849 0.00021
NM_022114.4(PRDM16):c.1797G>A (p.Ser599=) rs201769516 0.00021
NM_024334.3(TMEM43):c.1095G>A (p.Ala365=) rs141675061 0.00021
NM_024334.3(TMEM43):c.347G>A (p.Arg116Gln) rs143535006 0.00021
NM_024334.3(TMEM43):c.896G>C (p.Arg299Thr) rs139590716 0.00021
NM_030662.4(MAP2K2):c.450+17C>T rs199892711 0.00021
NM_170707.4(LMNA):c.1017G>A (p.Ala339=) rs17847242 0.00021
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624 0.00020
NM_000059.4(BRCA2):c.5710C>G (p.Leu1904Val) rs55875643 0.00020
NM_000455.5(STK11):c.1296G>A (p.Gln432=) rs587781179 0.00020
NM_000719.7(CACNA1C):c.2067C>T (p.Phe689=) rs112170830 0.00020
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=) rs142636150 0.00020
NM_001110556.2(FLNA):c.732C>T (p.Pro244=) rs371092631 0.00020
NM_001110792.2(MECP2):c.1173C>T (p.Pro391=) rs61752980 0.00020
NM_001999.4(FBN2):c.8049G>A (p.Gly2683=) rs138044126 0.00020
NM_003001.5(SDHC):c.120G>A (p.Arg40=) rs36097930 0.00020
NM_004006.3(DMD):c.3666T>C (p.Asn1222=) rs373281760 0.00020
NM_004006.3(DMD):c.6571C>T (p.Arg2191Trp) rs149322279 0.00020
NM_006506.5(RASA2):c.1826+20C>T rs373342734 0.00020
NM_006939.4(SOS2):c.2712A>G (p.Glu904=) rs143332839 0.00020
NM_013975.4(LIG3):c.1332G>A (p.Ser444=) rs111958156 0.00020
NM_024675.4(PALB2):c.1492G>T (p.Asp498Tyr) rs75023630 0.00020
NM_033118.4(MYLK2):c.972+14G>A rs193922713 0.00020
NM_053025.4(MYLK):c.1310-20T>C rs375101899 0.00020
NM_053025.4(MYLK):c.3525C>T (p.Asp1175=) rs147735490 0.00020
NM_144997.7(FLCN):c.246C>T (p.Cys82=) rs150712346 0.00020
NM_000038.6(APC):c.1488A>T (p.Thr496=) rs9282599 0.00019
NM_000038.6(APC):c.2205G>A (p.Ala735=) rs141001261 0.00019
NM_000038.6(APC):c.3249T>G (p.Asp1083Glu) rs201629780 0.00019
NM_000051.4(ATM):c.4980C>T (p.Asn1660=) rs144338238 0.00019
NM_000059.4(BRCA2):c.1123C>T (p.Pro375Ser) rs80358408 0.00019
NM_000059.4(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205 0.00019
NM_000059.4(BRCA2):c.7805+13A>G rs149769332 0.00019
NM_000075.4(CDK4):c.306A>G (p.Thr102=) rs201202764 0.00019
NM_000088.4(COL1A1):c.299-15C>T rs199523510 0.00019
NM_000117.3(EMD):c.445G>C (p.Asp149His) rs2070818 0.00019
NM_000138.5(FBN1):c.79G>A (p.Ala27Thr) rs25397 0.00019
NM_000179.3(MSH6):c.4001+11_4001+15dup rs587779302 0.00019
NM_000249.4(MLH1):c.394G>C (p.Asp132His) rs28930073 0.00019
NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys) rs63750006 0.00019
NM_000352.6(ABCC8):c.1678G>A (p.Val560Met) rs4148619 0.00019
NM_000444.6(PHEX):c.631G>A (p.Asp211Asn) rs370610267 0.00019
NM_000520.4(HEXA):c.745C>T (p.Arg249Trp) rs138058578 0.00019
NM_000521.4(HEXB):c.1614-14C>A rs201448394 0.00019
NM_000548.5(TSC2):c.251C>T (p.Ala84Val) rs35660529 0.00019
NM_000551.4(VHL):c.341-6C>T rs191201783 0.00019
NM_001032283.3(TMPO):c.-11A>C rs377404642 0.00019
NM_001035.3(RYR2):c.1006-12C>T rs367998175 0.00019
NM_001042492.3(NF1):c.1032A>G (p.Leu344=) rs199832006 0.00019
NM_001042492.3(NF1):c.4749A>G (p.Glu1583=) rs144091165 0.00019
NM_001110792.2(MECP2):c.1224C>T (p.Ser408=) rs781816931 0.00019
NM_001267550.2(TTN):c.39127+10A>C rs397517554 0.00019
NM_001267550.2(TTN):c.86052T>C (p.Thr28684=) rs76928874 0.00019
NM_002485.5(NBN):c.2220T>C (p.Ala740=) rs147494981 0.00019
NM_002691.4(POLD1):c.2955G>T (p.Arg985=) rs770495723 0.00019
NM_004100.5(EYA4):c.*16G>A rs376077686 0.00019
NM_004360.5(CDH1):c.1296C>T (p.Asn432=) rs187862045 0.00019
NM_004415.4(DSP):c.1344G>A (p.Leu448=) rs138226280 0.00019
NM_004415.4(DSP):c.6351T>C (p.Asp2117=) rs148743859 0.00019
NM_004415.4(DSP):c.8415C>T (p.Ala2805=) rs377148997 0.00019
NM_004985.5(KRAS):c.451-5535A>C rs201170656 0.00019
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr) rs138272051 0.00019
NM_005502.4(ABCA1):c.*16del rs762785983 0.00019
NM_005732.4(RAD50):c.3861C>T (p.Tyr1287=) rs368356436 0.00019
NM_006231.4(POLE):c.3378+10A>G rs193075152 0.00019
NM_006506.5(RASA2):c.528-4T>G rs201832322 0.00019
NM_006939.4(SOS2):c.2010A>G (p.Ala670=) rs147081547 0.00019
NM_007294.4(BRCA1):c.1789G>A (p.Glu597Lys) rs55650082 0.00019
NM_007294.4(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087 0.00019
NM_007373.4(SHOC2):c.841+12G>A rs201258692 0.00019
NM_012186.3(FOXE3):c.828C>G (p.Pro276=) rs887265865 0.00019
NM_017617.5(NOTCH1):c.2353+13C>T rs200756000 0.00019
NM_017617.5(NOTCH1):c.5384+14G>A rs755122664 0.00019
NM_017668.3(NDE1):c.948-3368C>A rs189463893 0.00019
NM_020975.6(RET):c.2052G>A (p.Pro684=) rs145122337 0.00019
NM_032043.3(BRIP1):c.36G>T (p.Gly12=) rs45566938 0.00019
NM_033337.3(CAV3):c.306G>A (p.Ala102=) rs149375325 0.00019
NM_053025.4(MYLK):c.2140+15C>T rs370641462 0.00019
NM_172201.2(KCNE2):c.354G>A (p.Gly118=) rs187917779 0.00019
NM_174936.4(PCSK9):c.996+8del rs768213924 0.00019
NM_000038.6(APC):c.3374T>C (p.Val1125Ala) rs377278397 0.00018
NM_000038.6(APC):c.4237A>G (p.Met1413Val) rs141519952 0.00018
NM_000090.4(COL3A1):c.2805T>C (p.Pro935=) rs111567071 0.00018
NM_000152.5(GAA):c.1285C>G (p.Gln429Glu) rs528369909 0.00018
NM_000169.3(GLA):c.129C>T (p.Gly43=) rs146177035 0.00018
NM_000218.3(KCNQ1):c.605-11G>A rs200828849 0.00018
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910 0.00018
NM_000397.4(CYBB):c.1414G>A (p.Gly472Ser) rs13306300 0.00018
NM_000535.7(PMS2):c.2253T>C (p.Phe751=) rs1805325 0.00018
NM_000546.6(TP53):c.1014C>T (p.Phe338=) rs150293825 0.00018
NM_000546.6(TP53):c.935C>G (p.Thr312Ser) rs145151284 0.00018
NM_001148.6(ANK2):c.6633C>T (p.Ala2211=) rs143516811 0.00018
NM_001267550.2(TTN):c.25209T>C (p.Asp8403=) rs569860898 0.00018
NM_001370259.2(MEN1):c.762G>A (p.Leu254=) rs199909967 0.00018
NM_002230.4(JUP):c.1377G>T (p.Leu459=) rs147370522 0.00018
NM_002230.4(JUP):c.2031G>A (p.Pro677=) rs188888662 0.00018
NM_002230.4(JUP):c.426C>T (p.Arg142=) rs142599474 0.00018
NM_002471.4(MYH6):c.4536G>A (p.Ser1512=) rs142539180 0.00018
NM_002878.4(RAD51D):c.904-3C>T rs45478491 0.00018
NM_003242.6(TGFBR2):c.984C>T (p.His328=) rs193922666 0.00018
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu) rs754765424 0.00018
NM_005633.4(SOS1):c.*4C>T rs188849286 0.00018
NM_005633.4(SOS1):c.2964+17A>G rs201906525 0.00018
NM_006939.4(SOS2):c.3076-17A>T rs200184350 0.00018
NM_012281.3(KCND2):c.1338G>A (p.Gln446=) rs144966242 0.00018
NM_014000.3(VCL):c.81C>T (p.His27=) rs200733607 0.00018
NM_024422.6(DSC2):c.135C>T (p.Ala45=) rs749323567 0.00018
NM_139076.3(ABRAXAS1):c.63G>A (p.Gln21=) rs745494968 0.00018
NM_144670.6(A2ML1):c.1368C>T (p.His456=) rs200983183 0.00018
NM_000051.4(ATM):c.6108T>C (p.Tyr2036=) rs3092826 0.00017
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102 0.00017
NM_000090.4(COL3A1):c.560C>T (p.Thr187Ile) rs371583734 0.00017
NM_000455.5(STK11):c.597+8C>T rs565387911 0.00017
NM_000535.7(PMS2):c.-7T>C rs199660792 0.00017
NM_000719.7(CACNA1C):c.1419C>T (p.Ser473=) rs368065584 0.00017
NM_001267550.2(TTN):c.68527+15G>A rs184043128 0.00017
NM_001943.5(DSG2):c.1280+17C>T rs199885701 0.00017
NM_002474.3(MYH11):c.3531G>A (p.Thr1177=) rs149980738 0.00017
NM_003673.4(TCAP):c.270G>A (p.Pro90=) rs372538567 0.00017
NM_004333.6(BRAF):c.240+18A>G rs368584855 0.00017
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686 0.00017
NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile) rs28897690 0.00017
NM_020297.4(ABCC9):c.574-18G>A rs376566343 0.00017
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile) rs147204964 0.00017
NM_000038.6(APC):c.6510A>C (p.Pro2170=) rs138571760 0.00016
NM_000038.6(APC):c.6669A>G (p.Ser2223=) rs372680843 0.00016
NM_000077.5(CDKN2A):c.384G>A (p.Arg128=) rs199901898 0.00016
NM_000090.4(COL3A1):c.1617C>T (p.Pro539=) rs141091206 0.00016
NM_000093.5(COL5A1):c.4383C>T (p.Pro1461=) rs368551709 0.00016
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075 0.00016
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys) rs63750114 0.00016
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala) rs41295280 0.00016
NM_000251.3(MSH2):c.1275A>G (p.Glu425=) rs63751650 0.00016
NM_000314.8(PTEN):c.234C>T (p.Thr78=) rs35917308 0.00016
NM_001148.6(ANK2):c.2080-18G>T rs199937888 0.00016
NM_001165963.4(SCN1A):c.1378-3T>C rs150964803 0.00016
NM_001267550.2(TTN):c.40515G>A (p.Pro13505=) rs367958537 0.00016
NM_001386795.1(DTNA):c.1485G>A (p.Ala495=) rs397517443 0.00016
NM_002230.4(JUP):c.1172G>A (p.Ser391Asn) rs199826380 0.00016
NM_002230.4(JUP):c.2178C>T (p.Ile726=) rs141295561 0.00016
NM_002230.4(JUP):c.527G>A (p.Arg176Gln) rs144171604 0.00016
NM_002317.7(LOX):c.631+10C>T rs199948468 0.00016
NM_002471.4(MYH6):c.4560A>G (p.Glu1520=) rs200918670 0.00016
NM_002471.4(MYH6):c.4812T>C (p.Asp1604=) rs201667127 0.00016
NM_002474.3(MYH11):c.2541G>A (p.Val847=) rs373920725 0.00016
NM_002474.3(MYH11):c.3309C>T (p.Ile1103=) rs370854451 0.00016
NM_002474.3(MYH11):c.5094C>T (p.Ala1698=) rs771742318 0.00016
NM_002691.4(POLD1):c.2337G>A (p.Ala779=) rs147108748 0.00016
NM_002734.5(PRKAR1A):c.330G>A (p.Ala110=) rs371834376 0.00016
NM_002769.5(PRSS1):c.40+13C>T rs368872847 0.00016
NM_002880.4(RAF1):c.576A>G (p.Gln192=) rs148759910 0.00016
NM_003036.4(SKI):c.1095+18G>A rs748998967 0.00016
NM_003480.4(MFAP5):c.195T>A (p.Ile65=) rs146558268 0.00016
NM_004333.6(BRAF):c.1860+16A>G rs368859030 0.00016
NM_004333.6(BRAF):c.483G>C (p.Leu161=) rs61730029 0.00016
NM_004612.4(TGFBR1):c.1216T>C (p.Leu406=) rs200062984 0.00016
NM_004985.5(KRAS):c.198A>G (p.Ala66=) rs200229810 0.00016
NM_005502.4(ABCA1):c.4155C>T (p.Asn1385=) rs367846898 0.00016
NM_005981.5(TSPAN31):c.*2031T>A rs370609910 0.00016
NM_006270.5(RRAS):c.516G>C (p.Ser172=) rs199924228 0.00016
NM_006767.4(LZTR1):c.945C>T (p.Asp315=) rs559942119 0.00016
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00016
NM_012452.3(TNFRSF13B):c.-20A>G rs754331452 0.00016
NM_014000.3(VCL):c.1842G>A (p.Thr614=) rs144117013 0.00016
NM_015141.4(GPD1L):c.1038C>T (p.Ser346=) rs147092668 0.00016
NM_017617.5(NOTCH1):c.1689C>T (p.Cys563=) rs760548976 0.00016
NM_017617.5(NOTCH1):c.3288G>C (p.Val1096=) rs374944458 0.00016
NM_024675.4(PALB2):c.3054G>C (p.Glu1018Asp) rs183489969 0.00016
NM_030662.4(MAP2K2):c.420C>T (p.Asp140=) rs369925884 0.00016
NM_032043.3(BRIP1):c.1872G>A (p.Ser624=) rs145504336 0.00016
NM_053025.4(MYLK):c.3075C>T (p.Pro1025=) rs144885184 0.00016
NM_053025.4(MYLK):c.4293G>A (p.Pro1431=) rs370153686 0.00016
NM_058216.3(RAD51C):c.744T>C (p.Phe248=) rs150142859 0.00016
NM_144670.6(A2ML1):c.2590+19A>G rs368826484 0.00016
NM_000038.6(APC):c.6985A>G (p.Ile2329Val) rs146048493 0.00015
NM_000152.5(GAA):c.368G>A (p.Gly123Glu) rs138034915 0.00015
NM_000162.5(GCK):c.364-13G>A rs372405219 0.00015
NM_000249.4(MLH1):c.1820T>A (p.Leu607His) rs41295284 0.00015
NM_000432.4(MYL2):c.243G>T (p.Val81=) rs368851472 0.00015
NM_000535.7(PMS2):c.1467G>A (p.Glu489=) rs542522853 0.00015
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu) rs148736217 0.00015
NM_001110556.2(FLNA):c.-20C>A rs781821429 0.00015
NM_001110792.2(MECP2):c.1176G>A (p.Val392=) rs201711454 0.00015
NM_001999.4(FBN2):c.7569G>A (p.Leu2523=) rs375141964 0.00015
NM_002230.4(JUP):c.2086+13C>T rs199935213 0.00015
NM_004006.3(DMD):c.9486G>A (p.Glu3162=) rs370724251 0.00015
NM_004100.5(EYA4):c.1501+19A>G rs200678450 0.00015
NM_004360.5(CDH1):c.394G>A (p.Val132Ile) rs142498771 0.00015
NM_005502.4(ABCA1):c.5034G>A (p.Gln1678=) rs13306075 0.00015
NM_006231.4(POLE):c.252C>T (p.Tyr84=) rs148838481 0.00015
NM_006270.5(RRAS):c.255G>A (p.Ala85=) rs142801791 0.00015
NM_006270.5(RRAS):c.600G>A (p.Pro200=) rs183538580 0.00015
NM_006361.6(HOXB13):c.6G>A (p.Glu2=) rs371544984 0.00015
NM_006767.4(LZTR1):c.96T>C (p.His32=) rs372440263 0.00015
NM_006912.6(RIT1):c.237+10C>A rs367785615 0.00015
NM_006939.4(SOS2):c.2057+19T>A rs544924513 0.00015
NM_024422.6(DSC2):c.1521-7C>T rs374810953 0.00015
NM_024422.6(DSC2):c.2019C>T (p.Thr673=) rs201469817 0.00015
NM_024675.4(PALB2):c.1794G>A (p.Leu598=) rs182494675 0.00015
NM_053025.4(MYLK):c.3652+10C>T rs199521089 0.00015
NM_000038.6(APC):c.6609T>C (p.Val2203=) rs149328018 0.00014
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656 0.00014
NM_000059.4(BRCA2):c.502C>A (p.Pro168Thr) rs80358726 0.00014
NM_000093.5(COL5A1):c.3114+12G>C rs528913410 0.00014
NM_000093.5(COL5A1):c.3291C>T (p.Ala1097=) rs371821655 0.00014
NM_000138.5(FBN1):c.3936C>T (p.Ser1312=) rs779913610 0.00014
NM_000138.5(FBN1):c.5917+3A>G rs202158568 0.00014
NM_000303.3(PMM2):c.634A>G (p.Met212Val) rs3743808 0.00014
NM_000388.4(CASR):c.546T>A (p.Ser182=) rs200545177 0.00014
NM_000416.3(IFNGR1):c.85+56_85+74dup rs1414548029 0.00014
NM_000546.6(TP53):c.869G>A (p.Arg290His) rs55819519 0.00014
NM_000719.7(CACNA1C):c.3209+12T>C rs372982213 0.00014
NM_000891.3(KCNJ2):c.174C>T (p.Phe58=) rs587781006 0.00014
NM_001032283.3(TMPO):c.565+1469A>G rs147812883 0.00014
NM_001042492.3(NF1):c.7368A>G (p.Lys2456=) rs201287021 0.00014
NM_001103.4(ACTN2):c.615+15C>T rs369293885 0.00014
NM_001105206.3(LAMA4):c.2977-16T>A rs368833887 0.00014
NM_001110556.2(FLNA):c.4659C>T (p.Pro1553=) rs375163471 0.00014
NM_001267550.2(TTN):c.103053C>T (p.Thr34351=) rs3731753 0.00014
NM_001267550.2(TTN):c.23029G>A (p.Gly7677Arg) rs367826445 0.00014
NM_001267550.2(TTN):c.74042A>G (p.Gln24681Arg) rs537071956 0.00014
NM_001844.5(COL2A1):c.1635C>T (p.Asn545=) rs141321284 0.00014
NM_001999.4(FBN2):c.7841-17C>T rs371643668 0.00014
NM_002230.4(JUP):c.708-4C>G rs201313464 0.00014
NM_002230.4(JUP):c.84G>A (p.Ser28=) rs144137028 0.00014
NM_002294.3(LAMP2):c.591G>A (p.Val197=) rs201030806 0.00014
NM_002471.4(MYH6):c.1132G>A (p.Gly378Ser) rs148962966 0.00014
NM_002471.4(MYH6):c.2429+14A>C rs200817451 0.00014
NM_002474.3(MYH11):c.5160C>T (p.Ser1720=) rs199564260 0.00014
NM_002485.5(NBN):c.1809C>A (p.Phe603Leu) rs192236678 0.00014
NM_002880.4(RAF1):c.1587G>A (p.Ser529=) rs114687276 0.00014
NM_002880.4(RAF1):c.680+6T>C rs371846795 0.00014
NM_004004.6(GJB2):c.368C>A (p.Thr123Asn) rs111033188 0.00014
NM_004006.3(DMD):c.4876G>A (p.Val1626Met) rs776998846 0.00014
NM_004329.3(BMPR1A):c.676-6A>C rs186999445 0.00014
NM_004360.5(CDH1):c.1353T>C (p.Ile451=) rs114192597 0.00014
NM_005502.4(ABCA1):c.3768G>A (p.Gly1256=) rs140160885 0.00014
NM_005633.4(SOS1):c.1962G>A (p.Glu654=) rs144382701 0.00014
NM_005751.5(AKAP9):c.717G>A (p.Gln239=) rs370346906 0.00014
NM_006231.4(POLE):c.6657+9T>C rs375333174 0.00014
NM_006270.5(RRAS):c.344+6_344+7del rs755223611 0.00014
NM_006506.5(RASA2):c.38C>T (p.Ser13Phe) rs376313232 0.00014
NM_006767.4(LZTR1):c.1449+18C>G rs369921461 0.00014
NM_006939.4(SOS2):c.2668-13T>C rs368749459 0.00014
NM_007078.3(LDB3):c.897-14T>C rs763081924 0.00014
NM_012186.3(FOXE3):c.51T>C (p.Pro17=) rs548368038 0.00014
NM_017617.5(NOTCH1):c.2354-5T>C rs371944522 0.00014
NM_017780.4(CHD7):c.1326C>A (p.Ala442=) rs370097651 0.00014
NM_024334.3(TMEM43):c.864C>T (p.His288=) rs377585035 0.00014
NM_030662.3(MAP2K2):c.*8C>T rs377675706 0.00014
NM_030662.4(MAP2K2):c.529-12G>A rs375701469 0.00014
NM_030662.4(MAP2K2):c.529-15C>T rs778783152 0.00014
NM_030662.4(MAP2K2):c.580+15G>A rs370921720 0.00014
NM_053025.4(MYLK):c.3438C>T (p.Leu1146=) rs146320279 0.00014
NM_053025.4(MYLK):c.3448+15G>A rs199789942 0.00014
NM_053025.4(MYLK):c.3915C>T (p.Cys1305=) rs371602931 0.00014
NM_000039.3(APOA1):c.200+19G>A rs377408912 0.00013
NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val) rs80358589 0.00013
NM_000179.3(MSH6):c.102C>A (p.Ala34=) rs201132087 0.00013
NM_000251.3(MSH2):c.2425G>A (p.Glu809Lys) rs202145681 0.00013
NM_000251.3(MSH2):c.505A>G (p.Ile169Val) rs63750716 0.00013
NM_000337.6(SGCD):c.3+20G>A rs187786098 0.00013
NM_000535.7(PMS2):c.255G>A (p.Leu85=) rs200491279 0.00013
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu) rs374704824 0.00013
NM_001035.3(RYR2):c.14703G>C (p.Val4901=) rs201371633 0.00013
NM_001035.3(RYR2):c.3067-15T>C rs185110433 0.00013
NM_001035.3(RYR2):c.7062C>T (p.Ala2354=) rs182038403 0.00013
NM_001035.3(RYR2):c.9963G>A (p.Pro3321=) rs199730192 0.00013
NM_001085049.3(MRAS):c.488A>G (p.Asn163Ser) rs536326964 0.00013
NM_001110792.2(MECP2):c.*13C>T rs782334844 0.00013
NM_001110792.2(MECP2):c.771C>G (p.Val257=) rs782027467 0.00013
NM_001110792.2(MECP2):c.789C>T (p.Pro263=) rs63582063 0.00013
NM_001148.6(ANK2):c.11119G>A (p.Asp3707Asn) rs199549660 0.00013
NM_001458.5(FLNC):c.600C>T (p.Pro200=) rs202105410 0.00013
NM_002474.3(MYH11):c.3858+16G>C rs370164910 0.00013
NM_002474.3(MYH11):c.633+1900G>A rs371799677 0.00013
NM_002834.5(PTPN11):c.1746C>T (p.Asn582=) rs397516800 0.00013
NM_003098.3(SNTA1):c.311-20C>T rs200764326 0.00013
NM_004006.3(DMD):c.821A>G (p.Tyr274Cys) rs745868830 0.00013
NM_004281.4(BAG3):c.1029C>A (p.Arg343=) rs117972572 0.00013
NM_004333.6(BRAF):c.504+17A>G rs201797624 0.00013
NM_004333.6(BRAF):c.723G>A (p.Thr241=) rs369182143 0.00013
NM_005188.4(CBL):c.-5A>G rs552214111 0.00013
NM_005633.4(SOS1):c.1953A>G (p.Pro651=) rs141507912 0.00013
NM_005633.4(SOS1):c.214-10A>G rs371447614 0.00013
NM_006231.4(POLE):c.2935C>T (p.Leu979=) rs56081968 0.00013
NM_006361.6(HOXB13):c.474G>A (p.Pro158=) rs35033273 0.00013
NM_006767.4(LZTR1):c.1353+17G>A rs372409921 0.00013
NM_006939.4(SOS2):c.195G>A (p.Arg65=) rs1803661 0.00013
NM_006939.4(SOS2):c.2625A>T (p.Ala875=) rs761442415 0.00013
NM_007078.3(LDB3):c.1956C>T (p.Asp652=) rs139213290 0.00013
NM_007078.3(LDB3):c.714C>T (p.Ala238=) rs727503125 0.00013
NM_007294.4(BRCA1):c.2773A>C (p.Ile925Leu) rs4986847 0.00013
NM_007373.4(SHOC2):c.*16C>A rs753327392 0.00013
NM_017668.3(NDE1):c.948-4464C>G rs375979600 0.00013
NM_024422.6(DSC2):c.1788G>A (p.Ala596=) rs146161960 0.00013
NM_030662.4(MAP2K2):c.33G>A (p.Ala11=) rs368233443 0.00013
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=) rs202228407 0.00013
NM_170707.4(LMNA):c.1051A>C (p.Arg351=) rs771623461 0.00013
NM_000038.6(APC):c.2204C>T (p.Ala735Val) rs147655929 0.00012
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600 0.00012
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479 0.00012
NM_000059.4(BRCA2):c.2919G>A (p.Ser973=) rs45525041 0.00012
NM_000090.4(COL3A1):c.3537C>A (p.Gly1179=) rs146837092 0.00012
NM_000170.3(GLDC):c.635+16A>G rs182471927 0.00012
NM_000256.3(MYBPC3):c.2614G>A (p.Glu872Lys) rs190765116 0.00012
NM_000258.3(MYL3):c.559+19G>A rs552393482 0.00012
NM_000535.7(PMS2):c.1320A>G (p.Pro440=) rs138697590 0.00012
NM_001035.3(RYR2):c.7824+20G>A rs373240466 0.00012
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=) rs140994965 0.00012
NM_001267550.2(TTN):c.15218-17C>T rs192438325 0.00012
NM_001267550.2(TTN):c.18816T>C (p.Ile6272=) rs146219199 0.00012
NM_001267550.2(TTN):c.24505+13C>T rs534803807 0.00012
NM_001267550.2(TTN):c.82497C>T (p.Thr27499=) rs199629314 0.00012
NM_002769.5(PRSS1):c.390C>T (p.Thr130=) rs561097415 0.00012
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile) rs370864592 0.00012
NM_005159.5(ACTC1):c.1092C>T (p.Tyr364=) rs140261885 0.00012
NM_005188.4(CBL):c.1459A>G (p.Met487Val) rs17848896 0.00012
NM_005359.6(SMAD4):c.582A>G (p.Thr194=) rs145805120 0.00012
NM_005502.4(ABCA1):c.66+9G>T rs562165874 0.00012
NM_005751.5(AKAP9):c.5058+12T>G rs373705132 0.00012
NM_006258.4(PRKG1):c.1017G>A (p.Leu339=) rs187636159 0.00012
NM_006506.5(RASA2):c.1422C>T (p.Cys474=) rs137996961 0.00012
NM_006767.4(LZTR1):c.264-14C>T rs199963374 0.00012
NM_006767.4(LZTR1):c.351C>T (p.Pro117=) rs202066345 0.00012
NM_006939.4(SOS2):c.702G>A (p.Leu234=) rs200208472 0.00012
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln) rs368570187 0.00012
NM_007294.4(BRCA1):c.5304C>T (p.Cys1768=) rs138493864 0.00012
NM_017617.5(NOTCH1):c.5676G>A (p.Gly1892=) rs763584589 0.00012
NM_030662.4(MAP2K2):c.581-8G>A rs369262004 0.00012
NM_174936.4(PCSK9):c.1355-16C>G rs28385713 0.00012
NM_000051.4(ATM):c.6348-8T>C rs730881292 0.00011
NM_000059.4(BRCA2):c.2680G>A (p.Val894Ile) rs28897715 0.00011
NM_000059.4(BRCA2):c.943T>A (p.Cys315Ser) rs79483201 0.00011
NM_000059.4(BRCA2):c.9501+9A>C rs81002867 0.00011
NM_000093.5(COL5A1):c.3594C>T (p.Gly1198=) rs146176718 0.00011
NM_000162.5(GCK):c.666C>T (p.Val222=) rs193922318 0.00011
NM_000335.5(SCN5A):c.1152C>T (p.Ser384=) rs372970828 0.00011
NM_000393.5(COL5A2):c.906+9A>G rs761662868 0.00011
NM_000432.4(MYL2):c.33G>A (p.Gly11=) rs199742269 0.00011
NM_000455.5(STK11):c.825G>A (p.Pro275=) rs202011521 0.00011
NM_000455.5(STK11):c.900C>T (p.Ile300=) rs546089394 0.00011
NM_000535.7(PMS2):c.1533G>A (p.Thr511=) rs542520309 0.00011
NM_000546.6(TP53):c.217G>A (p.Val73Met) rs587782423 0.00011
NM_000546.6(TP53):c.97-9C>T rs202217267 0.00011
NM_001035.3(RYR2):c.10221G>A (p.Ser3407=) rs373769240 0.00011
NM_001035.3(RYR2):c.2630A>C (p.His877Pro) rs561321743 0.00011
NM_001035.3(RYR2):c.6793-3C>T rs372314209 0.00011
NM_001035.3(RYR2):c.8208+15A>G rs142975943 0.00011
NM_001103.4(ACTN2):c.1974+10C>T rs368354944 0.00011
NM_001110556.2(FLNA):c.7410C>A (p.Ser2470=) rs368746337 0.00011
NM_001148.6(ANK2):c.792+15A>G rs375914552 0.00011
NM_001165963.4(SCN1A):c.1680T>C (p.Arg560=) rs145662732 0.00011
NM_001267550.2(TTN):c.48353A>G (p.Asp16118Gly) rs376273101 0.00011
NM_001927.4(DES):c.897+16C>T rs370385097 0.00011
NM_001999.4(FBN2):c.6285A>G (p.Arg2095=) rs28763933 0.00011
NM_002230.4(JUP):c.*3G>A rs201552065 0.00011
NM_002317.7(LOX):c.916C>T (p.Leu306=) rs368947781 0.00011
NM_002471.4(MYH6):c.678C>T (p.Pro226=) rs768893926 0.00011
NM_002485.5(NBN):c.1035C>T (p.Gly345=) rs146605798 0.00011
NM_002691.4(POLD1):c.1785C>T (p.Asp595=) rs769563176 0.00011
NM_002691.4(POLD1):c.645G>A (p.Ala215=) rs377058651 0.00011
NM_002734.5(PRKAR1A):c.381T>C (p.Ala127=) rs372669687 0.00011
NM_002755.4(MAP2K1):c.636C>T (p.Ser212=) rs138466751 0.00011
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 0.00011
NM_003036.4(SKI):c.1329C>T (p.Pro443=) rs150033567 0.00011
NM_004304.5(ALK):c.1111G>A (p.Ala371Thr) rs149968229 0.00011
NM_004329.3(BMPR1A):c.961C>T (p.Leu321=) rs377412651 0.00011
NM_004333.6(BRAF):c.36G>A (p.Ala12=) rs397507454 0.00011
NM_004360.5(CDH1):c.2643C>T (p.Asp881=) rs114708971 0.00011
NM_004612.4(TGFBR1):c.120C>T (p.Leu40=) rs201267786 0.00011
NM_005188.4(CBL):c.1432-6C>T rs371919794 0.00011
NM_005343.4(HRAS):c.330C>T (p.Pro110=) rs200747280 0.00011
NM_005633.4(SOS1):c.3357C>T (p.Thr1119=) rs373319212 0.00011
NM_006258.4(PRKG1):c.1026G>A (p.Gly342=) rs374834674 0.00011
NM_006258.4(PRKG1):c.1662C>T (p.Ala554=) rs374202731 0.00011
NM_006767.4(LZTR1):c.1149+16C>A rs200517966 0.00011
NM_006767.4(LZTR1):c.2205G>A (p.Pro735=) rs368690209 0.00011
NM_007078.3(LDB3):c.897-16G>C rs45513100 0.00011
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=) rs41286292 0.00011
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280 0.00011
NM_007294.4(BRCA1):c.441+18C>T rs371973519 0.00011
NM_013975.4(LIG3):c.2825G>A (p.Arg942Gln) rs200974999 0.00011
NM_024334.3(TMEM43):c.429G>A (p.Thr143=) rs201217046 0.00011
NM_024422.6(DSC2):c.1070G>A (p.Arg357His) rs201201194 0.00011
NM_024675.4(PALB2):c.2027T>C (p.Ile676Thr) rs200875161 0.00011
NM_030662.4(MAP2K2):c.981C>T (p.Asn327=) rs143275018 0.00011
NM_033360.4(KRAS):c.90C>T (p.Asp30=) rs113623140 0.00011
NM_053025.4(MYLK):c.4983C>T (p.Phe1661=) rs367656778 0.00011
NM_139076.3(ABRAXAS1):c.246G>A (p.Glu82=) rs367969368 0.00011
NM_139276.3(STAT3):c.1234-4dup rs763332844 0.00011
NM_152594.3(SPRED1):c.963G>A (p.Lys321=) rs369711772 0.00011
NM_000038.6(APC):c.388A>G (p.Ser130Gly) rs150973053 0.00010
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile) rs200381392 0.00010
NM_000059.4(BRCA2):c.10045A>G (p.Thr3349Ala) rs80358387 0.00010
NM_000093.5(COL5A1):c.5034G>A (p.Ser1678=) rs148006741 0.00010
NM_000138.5(FBN1):c.2094G>T (p.Pro698=) rs144775475 0.00010
NM_000138.5(FBN1):c.2892C>T (p.Asp964=) rs116945525 0.00010
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu) rs191109849 0.00010
NM_000251.3(MSH2):c.2210+7G>T rs374675118 0.00010
NM_000314.8(PTEN):c.579G>A (p.Leu193=) rs568851024 0.00010
NM_000335.5(SCN5A):c.*1G>A rs375282305 0.00010
NM_000384.3(APOB):c.10575C>T (p.Ser3525=) rs142573551 0.00010
NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val) rs111033423 0.00010
NM_000540.3(RYR1):c.2786+20G>A rs71337552 0.00010
NM_001035.3(RYR2):c.5571G>A (p.Pro1857=) rs371934582 0.00010
NM_001035.3(RYR2):c.9067+10C>T rs372631657 0.00010
NM_001040151.2(SCN3B):c.105C>T (p.Ala35=) rs368979661 0.00010
NM_001042492.3(NF1):c.2541T>C (p.Leu847=) rs147433258 0.00010
NM_001085049.3(MRAS):c.*8G>C rs756972675 0.00010
NM_001148.6(ANK2):c.8673C>T (p.Pro2891=) rs374884110 0.00010
NM_001148.6(ANK2):c.962G>A (p.Arg321Gln) rs150226540 0.00010
NM_001370259.2(MEN1):c.1638G>A (p.Pro546=) rs368783097 0.00010
NM_001458.5(FLNC):c.1813+12G>A rs750404224 0.00010
NM_001458.5(FLNC):c.4952-9G>T rs747821376 0.00010
NM_001458.5(FLNC):c.602-11C>T rs371111092 0.00010
NM_001844.5(COL2A1):c.1996-10C>T rs144804336 0.00010
NM_002471.4(MYH6):c.420C>T (p.Ala140=) rs145023897 0.00010
NM_002474.3(MYH11):c.2520+15C>G rs199771313 0.00010
NM_002691.4(POLD1):c.666G>A (p.Pro222=) rs746678748 0.00010
NM_002755.4(MAP2K1):c.439-19C>A rs766207567 0.00010
NM_004006.3(DMD):c.1318G>A (p.Glu440Lys) rs189143447 0.00010
NM_004006.3(DMD):c.606C>T (p.Ile202=) rs138335295 0.00010
NM_004360.5(CDH1):c.2451G>A (p.Ala817=) rs149450874 0.00010
NM_004415.4(DSP):c.1140+6T>C rs534740669 0.00010
NM_004655.4(AXIN2):c.1181G>A (p.Arg394His) rs200899695 0.00010
NM_005359.6(SMAD4):c.21G>A (p.Thr7=) rs142292491 0.00010
NM_005633.4(SOS1):c.553A>G (p.Ile185Val) rs143962515 0.00010
NM_005732.4(RAD50):c.204C>T (p.His68=) rs28903084 0.00010
NM_005902.4(SMAD3):c.207-13C>T rs200548744 0.00010
NM_005902.4(SMAD3):c.457C>T (p.Leu153=) rs145380987 0.00010
NM_006517.5(SLC16A2):c.23G>A (p.Ser8Asn) rs746783950 0.00010
NM_006767.4(LZTR1):c.263+7G>A rs185749722 0.00010
NM_007078.3(LDB3):c.273G>A (p.Thr91=) rs45613039 0.00010
NM_007078.3(LDB3):c.891G>A (p.Arg297=) rs374336814 0.00010
NM_013975.4(LIG3):c.2316C>T (p.Ile772=) rs775019742 0.00010
NM_014391.3(ANKRD1):c.750+17G>A rs373898620 0.00010
NM_016203.4(PRKAG2):c.240C>A (p.Gly80=) rs142482217 0.00010
NM_017617.5(NOTCH1):c.3771G>A (p.Pro1257=) rs536479643 0.00010
NM_017617.5(NOTCH1):c.390G>A (p.Pro130=) rs61751559 0.00010
NM_033118.4(MYLK2):c.1590C>T (p.Asn530=) rs374233822 0.00010
NM_033337.3(CAV3):c.168C>T (p.Gly56=) rs116840774 0.00010
NM_139076.3(ABRAXAS1):c.381C>T (p.Asn127=) rs201470211 0.00010
NM_144997.7(FLCN):c.1538+10A>C rs12451312 0.00010
NM_152594.3(SPRED1):c.26A>T (p.Asp9Val) rs200157475 0.00010
NM_172245.4(CSF2RA):c.681T>C (p.Arg227=) rs186487689 0.00010
NM_201596.3(CACNB2):c.1140T>C (p.His380=) rs151199943 0.00010
NM_000038.6(APC):c.1958+10G>T rs375175370 0.00009
NM_000038.6(APC):c.2586C>G (p.Asn862Lys) rs147972247 0.00009
NM_000038.6(APC):c.3786T>C (p.Tyr1262=) rs147411334 0.00009
NM_000038.6(APC):c.5025T>G (p.Val1675=) rs876658169 0.00009
NM_000038.6(APC):c.6525A>G (p.Thr2175=) rs200151646 0.00009
NM_000051.4(ATM):c.5005+7_5005+8del rs587780626 0.00009
NM_000059.4(BRCA2):c.1568A>G (p.His523Arg) rs80358443 0.00009
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=) rs11571654 0.00009
NM_000059.4(BRCA2):c.3262C>T (p.Pro1088Ser) rs80358572 0.00009
NM_000059.4(BRCA2):c.4977C>T (p.Ser1659=) rs45484897 0.00009
NM_000059.4(BRCA2):c.516+18T>C rs81002834 0.00009
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser) rs80358768 0.00009
NM_000059.4(BRCA2):c.6338A>G (p.Asn2113Ser) rs80358874 0.00009
NM_000059.4(BRCA2):c.8215G>A (p.Val2739Ile) rs80359069 0.00009
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817 0.00009
NM_000093.5(COL5A1):c.2134-11G>C rs369317619 0.00009
NM_000138.5(FBN1):c.3337+11G>A rs368726848 0.00009
NM_000218.3(KCNQ1):c.1033-12A>G rs200423553 0.00009
NM_000238.4(KCNH2):c.1635C>T (p.Tyr545=) rs200692436 0.00009
NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg) rs63750876 0.00009
NM_000305.3(PON2):c.708T>G (p.Val236=) rs758886833 0.00009
NM_000335.5(SCN5A):c.2103G>A (p.Pro701=) rs564847999 0.00009
NM_000335.5(SCN5A):c.3951G>A (p.Glu1317=) rs769473892 0.00009
NM_000433.4(NCF2):c.1342A>G (p.Asn448Asp) rs141569987 0.00009
NM_000455.5(STK11):c.735-9G>A rs201899557 0.00009
NM_000458.4(HNF1B):c.1534+11G>A rs373875820 0.00009
NM_000546.6(TP53):c.474C>T (p.Arg158=) rs139200646 0.00009
NM_000546.6(TP53):c.6G>A (p.Glu2=) rs143458271 0.00009
NM_000719.7(CACNA1C):c.3969C>T (p.Ile1323=) rs201345843 0.00009
NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=) rs563090568 0.00009
NM_001035.3(RYR2):c.14101A>G (p.Ile4701Val) rs755065507 0.00009
NM_001035.3(RYR2):c.4044G>A (p.Lys1348=) rs755391572 0.00009
NM_001035.3(RYR2):c.7689A>G (p.Lys2563=) rs201082550 0.00009
NM_001085049.3(MRAS):c.252G>A (p.Thr84=) rs373727168 0.00009
NM_001103.4(ACTN2):c.165C>T (p.Ala55=) rs193922634 0.00009
NM_001110556.2(FLNA):c.7756+19C>T rs781867343 0.00009
NM_001110792.2(MECP2):c.1216G>A (p.Glu406Lys) rs63094662 0.00009
NM_001148.6(ANK2):c.11181C>T (p.Gly3727=) rs185569619 0.00009
NM_001148.6(ANK2):c.2127T>C (p.Asn709=) rs113454484 0.00009
NM_001148.6(ANK2):c.2712C>T (p.Ser904=) rs149310669 0.00009
NM_001148.6(ANK2):c.5313G>A (p.Lys1771=) rs140992864 0.00009
NM_001927.4(DES):c.736-19G>A rs745667526 0.00009
NM_002471.4(MYH6):c.-8G>A rs28730779 0.00009
NM_002471.4(MYH6):c.1485C>T (p.Phe495=) rs181613656 0.00009
NM_002471.4(MYH6):c.2520G>A (p.Pro840=) rs141945051 0.00009
NM_002474.3(MYH11):c.5277C>T (p.Val1759=) rs112564682 0.00009
NM_002691.4(POLD1):c.1596C>T (p.Ala532=) rs550441767 0.00009
NM_002691.4(POLD1):c.2388+5G>A rs750085275 0.00009
NM_002834.5(PTPN11):c.486C>T (p.Asp162=) rs397507522 0.00009
NM_002878.4(RAD51D):c.196G>A (p.Val66Met) rs56026142 0.00009
NM_004329.3(BMPR1A):c.33G>A (p.Leu11=) rs535411352 0.00009
NM_004333.6(BRAF):c.399A>G (p.Ser133=) rs397507463 0.00009
NM_004360.5(CDH1):c.1359C>T (p.His453=) rs114861467 0.00009
NM_004360.5(CDH1):c.894C>T (p.Ala298=) rs139110184 0.00009
NM_005732.4(RAD50):c.1239A>G (p.Gln413=) rs182206007 0.00009
NM_005902.4(SMAD3):c.885G>A (p.Arg295=) rs139616052 0.00009
NM_006231.4(POLE):c.1905C>T (p.Ile635=) rs145203544 0.00009
NM_006231.4(POLE):c.4047G>A (p.Ala1349=) rs201746181 0.00009
NM_006393.3(NEBL):c.120A>G (p.Glu40=) rs397517203 0.00009
NM_006393.3(NEBL):c.582+9T>C rs185873503 0.00009
NM_006506.5(RASA2):c.382T>C (p.Leu128=) rs193019405 0.00009
NM_006767.4(LZTR1):c.*9G>A rs371599187 0.00009
NM_006767.4(LZTR1):c.1377C>T (p.His459=) rs752985853 0.00009
NM_006767.4(LZTR1):c.366G>A (p.Ser122=) rs367767120 0.00009
NM_006939.4(SOS2):c.2520A>G (p.Ala840=) rs775682587 0.00009
NM_007294.4(BRCA1):c.5152+20T>A rs376836050 0.00009
NM_014000.3(VCL):c.1290C>T (p.Asp430=) rs576271894 0.00009
NM_014000.3(VCL):c.2142C>T (p.Asp714=) rs373790383 0.00009
NM_014000.3(VCL):c.3066C>T (p.Ile1022=) rs138619320 0.00009
NM_022124.6(CDH23):c.9238G>A (p.Ala3080Thr) rs369395479 0.00009
NM_024675.4(PALB2):c.2379C>T (p.Gly793=) rs377626805 0.00009
NM_030662.4(MAP2K2):c.919+4C>T rs763424788 0.00009
NM_053025.4(MYLK):c.2589G>A (p.Glu863=) rs536506601 0.00009
NM_053025.4(MYLK):c.3750C>T (p.Arg1250=) rs201873975 0.00009
NM_053025.4(MYLK):c.4289-13del rs779252356 0.00009
NM_053025.4(MYLK):c.4725C>T (p.Tyr1575=) rs374665486 0.00009
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala) rs587780256 0.00009
NM_144670.6(A2ML1):c.2234+10G>A rs753021676 0.00009
NM_144670.6(A2ML1):c.4261C>T (p.Gln1421Ter) rs182070540 0.00009
NM_144670.6(A2ML1):c.855+9A>G rs200524501 0.00009
NM_144997.7(FLCN):c.779+9C>T rs373504780 0.00009
NM_174934.4(SCN4B):c.22G>A (p.Gly8Ser) rs149868494 0.00009
NM_000038.6(APC):c.4212C>A (p.Ser1404=) rs144655979 0.00008
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478 0.00008
NM_000051.4(ATM):c.2466+7A>G rs55812024 0.00008
NM_000059.4(BRCA2):c.506A>G (p.Lys169Arg) rs80358730 0.00008
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097 0.00008
NM_000059.4(BRCA2):c.6748A>G (p.Thr2250Ala) rs80358899 0.00008
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00008
NM_000093.5(COL5A1):c.684G>A (p.Ser228=) rs139705205 0.00008
NM_000129.4(F13A1):c.1184C>T (p.Ala395Val) rs76451285 0.00008
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala) rs55778204 0.00008
NM_000426.4(LAMA2):c.4436+18A>G rs184907128 0.00008
NM_000535.7(PMS2):c.1656T>C (p.His552=) rs113726095 0.00008
NM_001032283.3(TMPO):c.565+2387G>A rs201034441 0.00008
NM_001035.3(RYR2):c.684C>T (p.Leu228=) rs72549417 0.00008
NM_001035.3(RYR2):c.7158C>T (p.Asn2386=) rs376057173 0.00008
NM_001035.3(RYR2):c.7608T>C (p.Ala2536=) rs367987360 0.00008
NM_001103.4(ACTN2):c.2541G>A (p.Ala847=) rs374278766 0.00008
NM_001110556.2(FLNA):c.3504C>T (p.Pro1168=) rs368009936 0.00008
NM_001165963.4(SCN1A):c.2946+19T>C rs180873219 0.00008
NM_001165963.4(SCN1A):c.4887C>T (p.Phe1629=) rs587780445 0.00008
NM_001386795.1(DTNA):c.1454G>C (p.Ser485Thr) rs190619495 0.00008
NM_001458.5(FLNC):c.4488T>C (p.Asn1496=) rs377258966 0.00008
NM_002474.3(MYH11):c.300C>T (p.Ser100=) rs111662326 0.00008
NM_002691.4(POLD1):c.2718-4G>A rs755348897 0.00008
NM_004333.6(BRAF):c.375T>G (p.Ser125=) rs201507202 0.00008
NM_004360.5(CDH1):c.1020G>A (p.Thr340=) rs61747632 0.00008
NM_004937.3(CTNS):c.461+16G>A rs201772152 0.00008
NM_005751.5(AKAP9):c.3066A>G (p.Gly1022=) rs372748115 0.00008
NM_005911.6(MAT2A):c.729C>T (p.His243=) rs757299832 0.00008
NM_006270.5(RRAS):c.344+17G>A rs761080520 0.00008
NM_006767.4(LZTR1):c.1548C>T (p.Ala516=) rs545065457 0.00008
NM_006767.4(LZTR1):c.369C>T (p.Ala123=) rs773126123 0.00008
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val) rs80357465 0.00008
NM_007373.4(SHOC2):c.1161+9A>G rs201795589 0.00008
NM_016203.4(PRKAG2):c.429G>A (p.Ser143=) rs757727533 0.00008
NM_017617.5(NOTCH1):c.5018+13C>T rs752508890 0.00008
NM_017617.5(NOTCH1):c.6083-4G>A rs570242146 0.00008
NM_024334.3(TMEM43):c.798G>A (p.Arg266=) rs139078900 0.00008
NM_053025.4(MYLK):c.3832-9C>T rs200022087 0.00008
NM_000038.6(APC):c.3624C>T (p.Thr1208=) rs730882125 0.00007
NM_000059.4(BRCA2):c.1644G>A (p.Gln548=) rs55986646 0.00007
NM_000059.4(BRCA2):c.3568C>T (p.Arg1190Trp) rs80358604 0.00007
NM_000059.4(BRCA2):c.3839A>T (p.Asp1280Val) rs56337919 0.00007
NM_000093.5(COL5A1):c.5271G>A (p.Thr1757=) rs142886387 0.00007
NM_000098.3(CPT2):c.84C>T (p.Gly28=) rs772541454 0.00007
NM_000173.7(GP1BA):c.256C>T (p.Leu86Phe) rs13306411 0.00007
NM_000249.4(MLH1):c.649C>T (p.Arg217Cys) rs4986984 0.00007
NM_000264.5(PTCH1):c.3963C>T (p.Asp1321=) rs139071993 0.00007
NM_000337.6(SGCD):c.402T>C (p.Ala134=) rs190935424 0.00007
NM_000432.4(MYL2):c.*10C>T rs193922452 0.00007
NM_000455.5(STK11):c.-2G>T rs774072752 0.00007
NM_000455.5(STK11):c.357C>T (p.Asn119=) rs372511774 0.00007
NM_000497.4(CYP11B1):c.1144C>T (p.Leu382=) rs5293 0.00007
NM_000719.7(CACNA1C):c.2854-4G>A rs113929946 0.00007
NM_001035.3(RYR2):c.8830+19T>C rs770534794 0.00007
NM_001110556.2(FLNA):c.1587G>A (p.Lys529=) rs782615607 0.00007
NM_001110792.2(MECP2):c.1197C>T (p.Pro399=) rs61750246 0.00007
NM_001148.6(ANK2):c.3224+7G>A rs376534098 0.00007
NM_001276345.2(TNNT2):c.52+7G>A rs374443596 0.00007
NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu) rs144574441 0.00007
NM_002474.3(MYH11):c.3228G>A (p.Ala1076=) rs773672888 0.00007
NM_002755.4(MAP2K1):c.1068+18G>A rs369137482 0.00007
NM_002755.4(MAP2K1):c.292-3C>T rs55694358 0.00007
NM_004360.5(CDH1):c.1298A>G (p.Asp433Gly) rs376097289 0.00007
NM_005188.4(CBL):c.1299G>A (p.Pro433=) rs199633558 0.00007
NM_005188.4(CBL):c.1443G>T (p.Pro481=) rs768111719 0.00007
NM_005633.4(SOS1):c.1854C>T (p.Tyr618=) rs727505181 0.00007
NM_006231.4(POLE):c.6331-8C>T rs769766403 0.00007
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val) rs56039126 0.00007
NM_007294.4(BRCA1):c.5332+13G>T rs372391060 0.00007
NM_017617.5(NOTCH1):c.4506C>T (p.Asp1502=) rs751191827 0.00007
NM_022114.4(PRDM16):c.*15G>A rs771401380 0.00007
NM_022124.6(CDH23):c.8120C>T (p.Pro2707Leu) rs373230009 0.00007
NM_030662.4(MAP2K2):c.825G>A (p.Leu275=) rs587781027 0.00007
NM_033337.3(CAV3):c.204C>A (p.Ser68=) rs116840775 0.00007
NM_053025.4(MYLK):c.2070G>A (p.Thr690=) rs141049942 0.00007
NM_053025.4(MYLK):c.5238+6G>A rs769544580 0.00007
NM_053025.4(MYLK):c.5514C>T (p.Pro1838=) rs147536036 0.00007
NM_144670.6(A2ML1):c.1477-13T>C rs778863549 0.00007
NM_174936.4(PCSK9):c.1206C>T (p.Ala402=) rs200091654 0.00007
NM_174936.4(PCSK9):c.609C>T (p.Thr203=) rs200856421 0.00007
NM_000038.6(APC):c.1005A>G (p.Leu335=) rs3797704 0.00006
NM_000038.6(APC):c.7929A>G (p.Leu2643=) rs138796072 0.00006
NM_000040.3(APOC3):c.126C>T (p.Thr42=) rs533891893 0.00006
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451 0.00006
NM_000059.4(BRCA2):c.2320A>G (p.Thr774Ala) rs55968715 0.00006
NM_000059.4(BRCA2):c.4828G>A (p.Val1610Met) rs80358705 0.00006
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr) rs148216434 0.00006
NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile) rs139619440 0.00006
NM_000090.4(COL3A1):c.3228C>T (p.Pro1076=) rs200917999 0.00006
NM_000093.5(COL5A1):c.1809C>T (p.Ala603=) rs371345820 0.00006
NM_000093.5(COL5A1):c.3231A>G (p.Glu1077=) rs376248130 0.00006
NM_000093.5(COL5A1):c.3780C>T (p.Ser1260=) rs150591401 0.00006
NM_000138.5(FBN1):c.4998C>G (p.Thr1666=) rs141925790 0.00006
NM_000138.5(FBN1):c.6834C>T (p.Pro2278=) rs397515839 0.00006
NM_000138.5(FBN1):c.7902C>T (p.Pro2634=) rs138621371 0.00006
NM_000153.4(GALC):c.1731C>T (p.Phe577=) rs201560122 0.00006
NM_000179.3(MSH6):c.2724A>G (p.Glu908=) rs35389622 0.00006
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser) rs63751467 0.00006
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527 0.00006
NM_000249.4(MLH1):c.1733A>G (p.Glu578Gly) rs63751612 0.00006
NM_000251.3(MSH2):c.499G>C (p.Asp167His) rs63750255 0.00006
NM_000314.8(PTEN):c.720C>T (p.Tyr240=) rs190070312 0.00006
NM_000335.5(SCN5A):c.3243G>A (p.Val1081=) rs41312407 0.00006
NM_000337.6(SGCD):c.295-20C>A rs144250417 0.00006
NM_000455.5(STK11):c.1257C>T (p.Ser419=) rs375328708 0.00006
NM_000455.5(STK11):c.842C>T (p.Pro281Leu) rs121913322 0.00006
NM_000455.5(STK11):c.921-10G>A rs183406870 0.00006
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys) rs3738885 0.00006
NM_000492.4(CFTR):c.2604A>G (p.Val868=) rs1800105 0.00006
NM_000527.5(LDLR):c.1887C>T (p.Phe629=) rs751234870 0.00006
NM_000535.7(PMS2):c.477G>A (p.Val159=) rs147701251 0.00006
NM_000546.6(TP53):c.248C>T (p.Ala83Val) rs201717599 0.00006
NM_000548.5(TSC2):c.4683C>T (p.Ile1561=) rs145033857 0.00006
NM_001035.3(RYR2):c.14808+17A>C rs368520821 0.00006
NM_001035.3(RYR2):c.2643A>C (p.Ile881=) rs751869107 0.00006
NM_001035.3(RYR2):c.2772G>A (p.Leu924=) rs780664060 0.00006
NM_001035.3(RYR2):c.4695T>C (p.Pro1565=) rs368826662 0.00006
NM_001035.3(RYR2):c.6738G>T (p.Ser2246=) rs368207198 0.00006
NM_001037.5(SCN1B):c.448+8G>C rs200222933 0.00006
NM_001085049.3(MRAS):c.291G>A (p.Lys97=) rs548156011 0.00006
NM_001103.4(ACTN2):c.1794G>A (p.Pro598=) rs137890030 0.00006
NM_001103.4(ACTN2):c.354C>T (p.Gly118=) rs539250948 0.00006
NM_001105206.3(LAMA4):c.2232G>A (p.Thr744=) rs145489423 0.00006
NM_001110556.2(FLNA):c.4494C>T (p.Asp1498=) rs183948518 0.00006
NM_001110792.2(MECP2):c.414-20C>G rs368684221 0.00006
NM_001134363.3(RBM20):c.1161G>A (p.Ala387=) rs374299043 0.00006
NM_001148.6(ANK2):c.1135C>T (p.Arg379Cys) rs143043717 0.00006
NM_001148.6(ANK2):c.2679A>G (p.Gly893=) rs766183219 0.00006
NM_001148.6(ANK2):c.8484T>C (p.Asp2828=) rs371140760 0.00006
NM_001267550.2(TTN):c.22077A>T (p.Gly7359=) rs202102237 0.00006
NM_001267550.2(TTN):c.28462+11T>C rs563062273 0.00006
NM_001386795.1(DTNA):c.603+15T>C rs367772080 0.00006
NM_001458.5(FLNC):c.6114C>T (p.Ile2038=) rs559639511 0.00006
NM_002230.4(JUP):c.1055-14del rs140002183 0.00006
NM_002230.4(JUP):c.561C>T (p.Ala187=) rs139552714 0.00006
NM_002471.4(MYH6):c.2293-19A>G rs375891567 0.00006
NM_002471.4(MYH6):c.4245A>G (p.Ser1415=) rs779697115 0.00006
NM_002471.4(MYH6):c.4525+13T>C rs397516770 0.00006
NM_002474.3(MYH11):c.3897C>T (p.Ala1299=) rs190546350 0.00006
NM_002474.3(MYH11):c.5313C>T (p.Asn1771=) rs190675029 0.00006
NM_002524.5(NRAS):c.36T>G (p.Gly12=) rs759764705 0.00006
NM_002691.4(POLD1):c.1893-6A>C rs963949260 0.00006
NM_002691.4(POLD1):c.2700C>T (p.His900=) rs769965495 0.00006
NM_002734.5(PRKAR1A):c.798G>A (p.Thr266=) rs201774040 0.00006
NM_002880.4(RAF1):c.1107C>T (p.His369=) rs761947194 0.00006
NM_002880.4(RAF1):c.1371-15C>A rs371491379 0.00006
NM_003036.4(SKI):c.360C>T (p.Arg120=) rs375024753 0.00006
NM_003239.5(TGFB3):c.504C>T (p.Ile168=) rs148029842 0.00006
NM_003239.5(TGFB3):c.96C>T (p.Phe32=) rs748977151 0.00006
NM_003673.4(TCAP):c.132C>T (p.Asp44=) rs397516861 0.00006
NM_004281.4(BAG3):c.693G>A (p.Thr231=) rs144034433 0.00006
NM_004360.5(CDH1):c.2637C>T (p.Gly879=) rs141001592 0.00006
NM_004360.5(CDH1):c.393C>T (p.Ser131=) rs145430811 0.00006
NM_004415.4(DSP):c.2437-20T>G rs778134276 0.00006
NM_004415.4(DSP):c.4320G>A (p.Val1440=) rs571103583 0.00006
NM_004415.4(DSP):c.7548G>A (p.Arg2516=) rs756527780 0.00006
NM_004415.4(DSP):c.8268A>C (p.Ile2756=) rs397516963 0.00006
NM_004612.4(TGFBR1):c.574+18C>T rs370062838 0.00006
NM_004985.5(KRAS):c.451-5560T>A rs373169526 0.00006
NM_005188.4(CBL):c.2252-8T>C rs555179188 0.00006
NM_005199.5(CHRNG):c.994C>T (p.Arg332Trp) rs567899708 0.00006
NM_005343.4(HRAS):c.369C>T (p.Arg123=) rs200945755 0.00006
NM_005477.3(HCN4):c.2634C>G (p.Ser878=) rs748478312 0.00006
NM_005585.5(SMAD6):c.93T>C (p.Gly31=) rs780659575 0.00006
NM_005591.4(MRE11):c.777G>A (p.Gln259=) rs774144789 0.00006
NM_005732.4(RAD50):c.2658A>G (p.Gln886=) rs768654795 0.00006
NM_005902.4(SMAD3):c.990C>T (p.Thr330=) rs774470515 0.00006
NM_006231.4(POLE):c.1794+5C>T rs200095915 0.00006
NM_006270.5(RRAS):c.229G>A (p.Ala77Thr) rs200611081 0.00006
NM_006514.4(SCN10A):c.3705G>A (p.Ala1235=) rs147376215 0.00006
NM_006767.4(LZTR1):c.*12G>A rs561664122 0.00006
NM_006767.4(LZTR1):c.2232G>A (p.Ala744=) rs139261473 0.00006
NM_006767.4(LZTR1):c.2325+17G>A rs570834637 0.00006
NM_006767.4(LZTR1):c.593+11G>A rs200649588 0.00006
NM_006912.6(RIT1):c.106+15C>T rs755316223 0.00006
NM_006939.4(SOS2):c.2700C>T (p.Asp900=) rs369410641 0.00006
NM_006939.4(SOS2):c.2959-16A>G rs147830734 0.00006
NM_006939.4(SOS2):c.720C>T (p.Ile240=) rs373852615 0.00006
NM_007078.3(LDB3):c.1521C>T (p.Thr507=) rs200838004 0.00006
NM_007078.3(LDB3):c.689+9C>T rs727503124 0.00006
NM_007194.4(CHEK2):c.1260-10C>G rs730881706 0.00006
NM_007294.4(BRCA1):c.1392C>T (p.Thr464=) rs533802049 0.00006
NM_007294.4(BRCA1):c.1534C>T (p.Leu512Phe) rs41286294 0.00006
NM_007294.4(BRCA1):c.2412G>C (p.Gln804His) rs55746541 0.00006
NM_007294.4(BRCA1):c.2522G>A (p.Arg841Gln) rs80357337 0.00006
NM_007294.4(BRCA1):c.301+7G>A rs80358113 0.00006
NM_007294.4(BRCA1):c.3608G>A (p.Arg1203Gln) rs55930959 0.00006
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys) rs80356923 0.00006
NM_007294.4(BRCA1):c.3739G>A (p.Val1247Ile) rs80357191 0.00006
NM_007294.4(BRCA1):c.5278-14C>G rs80358105 0.00006
NM_014391.3(ANKRD1):c.150C>G (p.Ala50=) rs147484763 0.00006
NM_015141.4(GPD1L):c.996C>T (p.Tyr332=) rs149423659 0.00006
NM_017617.5(NOTCH1):c.2640C>T (p.His880=) rs374946182 0.00006
NM_017617.5(NOTCH1):c.3171+9G>A rs377541723 0.00006
NM_020297.4(ABCC9):c.4212-18A>C rs761501699 0.00006
NM_024334.3(TMEM43):c.921G>A (p.Lys307=) rs201771608 0.00006
NM_030662.4(MAP2K2):c.*20G>A rs377441764 0.00006
NM_030662.4(MAP2K2):c.581-18G>A rs372759920 0.00006
NM_030662.4(MAP2K2):c.903C>T (p.Pro301=) rs560316877 0.00006
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=) rs374362388 0.00006
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys) rs45437094 0.00006
NM_033337.3(CAV3):c.39C>T (p.Ile13=) rs200562715 0.00006
NM_033360.4(KRAS):c.4+5G>A rs201789109 0.00006
NM_139076.3(ABRAXAS1):c.18G>A (p.Thr6=) rs752871858 0.00006
NM_139076.3(ABRAXAS1):c.476+5A>C rs753767582 0.00006
NM_144670.6(A2ML1):c.1684-16C>T rs761750413 0.00006
NM_144670.6(A2ML1):c.3516C>T (p.Tyr1172=) rs747281942 0.00006
NM_144670.6(A2ML1):c.4061+11_4061+12del rs767089812 0.00006
NM_174936.4(PCSK9):c.429C>T (p.Ile143=) rs368511429 0.00006
NM_174936.4(PCSK9):c.657+8C>T rs376502208 0.00006
NM_174936.4(PCSK9):c.939C>G (p.Thr313=) rs534113572 0.00006
NM_000038.6(APC):c.7878T>G (p.Thr2626=) rs757020188 0.00005
NM_000059.4(BRCA2):c.5552T>G (p.Ile1851Ser) rs80358776 0.00005
NM_000059.4(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932 0.00005
NM_000059.4(BRCA2):c.8090G>A (p.Ser2697Asn) rs80359051 0.00005
NM_000093.5(COL5A1):c.4812C>T (p.Tyr1604=) rs542783734 0.00005
NM_000219.6(KCNE1):c.-5C>A rs191334763 0.00005
NM_000249.4(MLH1):c.1128T>C (p.Asp376=) rs267607824 0.00005
NM_000371.4(TTR):c.437A>G (p.Lys146Arg) rs536294863 0.00005
NM_000455.5(STK11):c.237C>T (p.Ile79=) rs751859508 0.00005
NM_000455.5(STK11):c.666C>T (p.Pro222=) rs542189325 0.00005
NM_000455.5(STK11):c.920+6C>T rs730881964 0.00005
NM_000455.5(STK11):c.970C>G (p.Pro324Ala) rs549474196 0.00005
NM_000458.4(HNF1B):c.1239C>T (p.Val413=) rs201113814 0.00005
NM_000719.7(CACNA1C):c.4941C>T (p.Asn1647=) rs773832706 0.00005
NM_000719.7(CACNA1C):c.5931C>T (p.Val1977=) rs757236915 0.00005
NM_001035.3(RYR2):c.594C>T (p.Asn198=) rs727504676 0.00005
NM_001110792.2(MECP2):c.563C>G (p.Pro188Arg) rs61749701 0.00005
NM_001148.6(ANK2):c.813T>C (p.His271=) rs774848857 0.00005
NM_001165963.4(SCN1A):c.4905C>T (p.Phe1635=) rs774858072 0.00005
NM_001283009.2(RTEL1):c.3823-14C>T rs536966266 0.00005
NM_001386795.1(DTNA):c.675G>A (p.Leu225=) rs376519672 0.00005
NM_002769.5(PRSS1):c.366C>T (p.Arg122=) rs201487096 0.00005
NM_003036.4(SKI):c.1242C>T (p.Ala414=) rs757550300 0.00005
NM_004304.5(ALK):c.3030C>T (p.His1010=) rs367642503 0.00005
NM_004360.5(CDH1):c.699C>T (p.His233=) rs115494727 0.00005
NM_004415.4(DSP):c.3507C>T (p.Tyr1169=) rs148894066 0.00005
NM_004484.4(GPC3):c.168C>G (p.Pro56=) rs188592483 0.00005
NM_005343.4(HRAS):c.222C>T (p.Thr74=) rs372223975 0.00005
NM_005359.6(SMAD4):c.1647A>G (p.Gln549=) rs113545983 0.00005
NM_006172.4(NPPA):c.272A>G (p.Gln91Arg) rs201879717 0.00005
NM_006767.4(LZTR1):c.1416G>A (p.Arg472=) rs367740343 0.00005
NM_006767.4(LZTR1):c.2514C>T (p.Ala838=) rs772037780 0.00005
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102 0.00005
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala) rs80356860 0.00005
NM_017617.5(NOTCH1):c.2388G>A (p.Ala796=) rs561956078 0.00005
NM_017617.5(NOTCH1):c.5091C>T (p.Thr1697=) rs775882968 0.00005
NM_017617.5(NOTCH1):c.743-4G>T rs748001079 0.00005
NM_017617.5(NOTCH1):c.963C>T (p.Cys321=) rs201158068 0.00005
NM_022114.4(PRDM16):c.3405C>T (p.Ala1135=) rs765114438 0.00005
NM_024334.3(TMEM43):c.442+12G>C rs530183718 0.00005
NM_030662.4(MAP2K2):c.1198G>A (p.Val400Met) rs533247725 0.00005
NM_030662.4(MAP2K2):c.690G>A (p.Thr230=) rs201287884 0.00005
NM_032119.4(ADGRV1):c.13996A>G (p.Ile4666Val) rs765672841 0.00005
NM_053025.4(MYLK):c.2595C>T (p.Asp865=) rs567610011 0.00005
NM_144670.6(A2ML1):c.1970G>A (p.Arg657His) rs372629661 0.00005
NM_152594.3(SPRED1):c.685-8T>C rs760690837 0.00005
NM_174936.4(PCSK9):c.1487G>A (p.Arg496Gln) rs139669564 0.00005
NM_174936.4(PCSK9):c.1878C>T (p.Cys626=) rs199815786 0.00005
NM_000038.6(APC):c.6219T>G (p.Gly2073=) rs766559927 0.00004
NM_000038.6(APC):c.6387G>A (p.Ser2129=) rs374310157 0.00004
NM_000038.6(APC):c.7095A>G (p.Ser2365=) rs747844776 0.00004
NM_000040.3(APOC3):c.99G>A (p.Gln33=) rs200557528 0.00004
NM_000059.4(BRCA2):c.4570T>G (p.Phe1524Val) rs56386506 0.00004
NM_000059.4(BRCA2):c.6143A>T (p.Asn2048Ile) rs80358853 0.00004
NM_000059.4(BRCA2):c.7102T>G (p.Leu2368Val) rs397507382 0.00004
NM_000059.4(BRCA2):c.7505G>A (p.Arg2502His) rs56070345 0.00004
NM_000077.5(CDKN2A):c.405G>A (p.Gly135=) rs751586391 0.00004
NM_000090.4(COL3A1):c.3336T>C (p.Pro1112=) rs749357239 0.00004
NM_000093.5(COL5A1):c.12T>C (p.His4=) rs368818087 0.00004
NM_000093.5(COL5A1):c.4473C>T (p.Ile1491=) rs537768945 0.00004
NM_000138.5(FBN1):c.538+4A>G rs375721252 0.00004
NM_000138.5(FBN1):c.5442C>T (p.Asn1814=) rs397515822 0.00004
NM_000151.4(G6PC1):c.132C>T (p.Tyr44=) rs202190197 0.00004
NM_000179.3(MSH6):c.2904C>G (p.Val968=) rs150683226 0.00004
NM_000179.3(MSH6):c.3557-3A>T rs41295274 0.00004
NM_000258.3(MYL3):c.246G>A (p.Ala82=) rs368364468 0.00004
NM_000393.5(COL5A2):c.3588T>C (p.Ile1196=) rs201460445 0.00004
NM_000416.3(IFNGR1):c.135C>T (p.Ile45=) rs148104171 0.00004
NM_000455.5(STK11):c.1109-5C>T rs587782020 0.00004
NM_000455.5(STK11):c.1200G>A (p.Leu400=) rs368661707 0.00004
NM_000455.5(STK11):c.432G>A (p.Pro144=) rs376788924 0.00004
NM_000455.5(STK11):c.651G>A (p.Pro217=) rs368348370 0.00004
NM_000455.5(STK11):c.723T>C (p.Ala241=) rs533550278 0.00004
NM_000455.5(STK11):c.795G>A (p.Glu265=) rs730881963 0.00004
NM_000465.4(BARD1):c.1788A>G (p.Lys596=) rs777084777 0.00004
NM_000465.4(BARD1):c.253G>T (p.Val85Leu) rs370359540 0.00004
NM_000465.4(BARD1):c.773T>C (p.Ile258Thr) rs146223579 0.00004
NM_000521.4(HEXB):c.1243-6T>C rs759404927 0.00004
NM_000535.7(PMS2):c.1197G>A (p.Lys399=) rs757730609 0.00004
NM_000535.7(PMS2):c.831G>A (p.Thr277=) rs116481522 0.00004
NM_000546.6(TP53):c.1096T>G (p.Ser366Ala) rs17881470 0.00004
NM_000546.6(TP53):c.91G>A (p.Val31Ile) rs201753350 0.00004
NM_000719.7(CACNA1C):c.1114-10G>A rs371725005 0.00004
NM_000719.7(CACNA1C):c.3567C>T (p.Cys1189=) rs202058956 0.00004
NM_000719.7(CACNA1C):c.3717+11G>A rs763622598 0.00004
NM_000719.7(CACNA1C):c.375A>G (p.Pro125=) rs587780882 0.00004
NM_001032283.3(TMPO):c.565+1304T>A rs142500409 0.00004
NM_001035.3(RYR2):c.12858C>T (p.Ser4286=) rs185482345 0.00004
NM_001035.3(RYR2):c.13293A>G (p.Glu4431=) rs778248995 0.00004
NM_001035.3(RYR2):c.7386A>G (p.Pro2462=) rs546545700 0.00004
NM_001035.3(RYR2):c.8591-8A>G rs1369273531 0.00004
NM_001085049.3(MRAS):c.*11G>T rs569173400 0.00004
NM_001103.4(ACTN2):c.2235A>G (p.Arg745=) rs141884271 0.00004
NM_001148.6(ANK2):c.11864A>G (p.Asn3955Ser) rs201555985 0.00004
NM_001148.6(ANK2):c.2901-16C>G rs200750637 0.00004
NM_001267550.2(TTN):c.24227-15C>T rs397517505 0.00004
NM_001370259.2(MEN1):c.784-10C>T rs71526470 0.00004
NM_001386795.1(DTNA):c.1875G>A (p.Gly625=) rs542483546 0.00004
NM_002230.4(JUP):c.945C>T (p.Leu315=) rs146804895 0.00004
NM_002474.3(MYH11):c.1575+7G>A rs754750176 0.00004
NM_002474.3(MYH11):c.831C>T (p.Asp277=) rs113537940 0.00004
NM_002524.5(NRAS):c.291-8G>A rs376187980 0.00004
NM_002691.4(POLD1):c.3204C>T (p.Asp1068=) rs759019419 0.00004
NM_002734.5(PRKAR1A):c.546G>A (p.Thr182=) rs117639566 0.00004
NM_002880.4(RAF1):c.570C>T (p.Ile190=) rs780912024 0.00004
NM_003242.6(TGFBR2):c.975C>T (p.Thr325=) rs532098604 0.00004
NM_004006.3(DMD):c.4275A>G (p.Glu1425=) rs72468647 0.00004
NM_004006.3(DMD):c.4845+10A>G rs199958675 0.00004
NM_004281.4(BAG3):c.181-15C>T rs397516882 0.00004
NM_004333.6(BRAF):c.1150A>G (p.Arg384Gly) rs545495379 0.00004
NM_004360.5(CDH1):c.1174G>A (p.Val392Ile) rs141864044 0.00004
NM_004360.5(CDH1):c.1224G>A (p.Ala408=) rs200161607 0.00004
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355 0.00004
NM_004415.4(DSP):c.264C>T (p.Ile88=) rs727502997 0.00004
NM_005343.4(HRAS):c.36C>T (p.Gly12=) rs727504424 0.00004
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser) rs397517144 0.00004
NM_005359.6(SMAD4):c.1218G>A (p.Ala406=) rs145097078 0.00004
NM_005359.6(SMAD4):c.1653A>G (p.Leu551=) rs199526820 0.00004
NM_005591.4(MRE11):c.1098+8C>A rs749039246 0.00004
NM_005902.4(SMAD3):c.608-15T>C rs371614939 0.00004
NM_006231.4(POLE):c.1560A>G (p.Gln520=) rs201841065 0.00004
NM_006231.4(POLE):c.330+3G>A rs369152225 0.00004
NM_006231.4(POLE):c.4150-6C>T rs756837862 0.00004
NM_006231.4(POLE):c.555C>T (p.Asp185=) rs763871536 0.00004
NM_006231.4(POLE):c.6539C>T (p.Ala2180Val) rs552452448 0.00004
NM_006393.3(NEBL):c.1116+17G>C rs370094745 0.00004
NM_006506.5(RASA2):c.2400C>T (p.Ile800=) rs144565084 0.00004
NM_006506.5(RASA2):c.615T>C (p.Asn205=) rs767353410 0.00004
NM_006506.5(RASA2):c.717C>T (p.Ser239=) rs183729614 0.00004
NM_006514.4(SCN10A):c.1110G>T (p.Gly370=) rs267599808 0.00004
NM_006767.4(LZTR1):c.1260+16G>A rs376876059 0.00004
NM_006767.4(LZTR1):c.1353+16C>T rs143592070 0.00004
NM_006767.4(LZTR1):c.1450-14C>T rs767640622 0.00004
NM_006767.4(LZTR1):c.1943-4C>G rs368391573 0.00004
NM_006767.4(LZTR1):c.2247C>T (p.Tyr749=) rs779077819 0.00004
NM_006767.4(LZTR1):c.2274G>A (p.Ala758=) rs144870586 0.00004
NM_006767.4(LZTR1):c.2355A>G (p.Ala785=) rs751681487 0.00004
NM_006939.4(SOS2):c.970-19A>G rs369274700 0.00004
NM_007194.4(CHEK2):c.1008+8A>G rs139986197 0.00004
NM_007194.4(CHEK2):c.847-10C>G rs745745105 0.00004
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His) rs56272539 0.00004
NM_007294.4(BRCA1):c.1616C>T (p.Thr539Met) rs80357374 0.00004
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682 0.00004
NM_007294.4(BRCA1):c.2351C>T (p.Ser784Leu) rs55914168 0.00004
NM_007294.4(BRCA1):c.4036G>A (p.Glu1346Lys) rs80357407 0.00004
NM_007294.4(BRCA1):c.4357+17A>G rs80358180 0.00004
NM_007294.4(BRCA1):c.4402A>C (p.Asn1468His) rs80357022 0.00004
NM_007294.4(BRCA1):c.4729T>C (p.Ser1577Pro) rs80356909 0.00004
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln) rs80357442 0.00004
NM_007294.4(BRCA1):c.81-11del rs273902788 0.00004
NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg) rs397517231 0.00004
NM_014697.3(NOS1AP):c.1317C>A (p.Thr439=) rs746807377 0.00004
NM_014697.3(NOS1AP):c.400C>A (p.Arg134=) rs771468647 0.00004
NM_017617.5(NOTCH1):c.3513C>T (p.Cys1171=) rs758860870 0.00004
NM_017617.5(NOTCH1):c.4656G>A (p.Ala1552=) rs375091696 0.00004
NM_017617.5(NOTCH1):c.5168-4G>A rs751709616 0.00004
NM_022089.4(ATP13A2):c.3205G>A (p.Ala1069Thr) rs774238872 0.00004
NM_024334.3(TMEM43):c.402C>T (p.Thr134=) rs370422391 0.00004
NM_024675.4(PALB2):c.2067G>A (p.Ser689=) rs371149159 0.00004
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe) rs373478248 0.00004
NM_030662.4(MAP2K2):c.240G>A (p.Ala80=) rs543217722 0.00004
NM_030662.4(MAP2K2):c.456C>T (p.Gly152=) rs143106439 0.00004
NM_030662.4(MAP2K2):c.528+11C>T rs369913089 0.00004
NM_032043.3(BRIP1):c.1626C>T (p.Ser542=) rs373709958 0.00004
NM_032043.3(BRIP1):c.1935+7T>C rs201024366 0.00004
NM_032043.3(BRIP1):c.297C>T (p.Asp99=) rs201617644 0.00004
NM_033337.3(CAV3):c.201C>A (p.Val67=) rs201593267 0.00004
NM_053025.4(MYLK):c.5001C>T (p.Asn1667=) rs375038682 0.00004
NM_058216.3(RAD51C):c.1062A>G (p.Ala354=) rs201000407 0.00004
NM_139076.3(ABRAXAS1):c.676T>C (p.Leu226=) rs769383568 0.00004
NM_144573.4(NEXN):c.1065T>C (p.Asp355=) rs369897647 0.00004
NM_144670.6(A2ML1):c.1476+15C>T rs759159005 0.00004
NM_144670.6(A2ML1):c.3962C>T (p.Pro1321Leu) rs190379856 0.00004
NM_152594.3(SPRED1):c.32+20C>T rs374284804 0.00004
NM_174934.4(SCN4B):c.*7C>T rs79071006 0.00004
NM_175914.5(HNF4A):c.50-4700G>A rs568730599 0.00004
NM_000038.6(APC):c.7731A>G (p.Ser2577=) rs537187449 0.00003
NM_000059.4(BRCA2):c.1744A>C (p.Thr582Pro) rs80358457 0.00003
NM_000059.4(BRCA2):c.316+12A>G rs186419778 0.00003
NM_000059.4(BRCA2):c.3575T>G (p.Phe1192Cys) rs80358606 0.00003
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721 0.00003
NM_000059.4(BRCA2):c.3682A>G (p.Asn1228Asp) rs28897722 0.00003
NM_000059.4(BRCA2):c.4670C>G (p.Thr1557Ser) rs80358698 0.00003
NM_000059.4(BRCA2):c.8917C>T (p.Arg2973Cys) rs45469092 0.00003
NM_000088.4(COL1A1):c.3045+3G>A rs41316695 0.00003
NM_000093.5(COL5A1):c.774T>C (p.Asn258=) rs199742873 0.00003
NM_000162.5(GCK):c.138G>A (p.Arg46=) rs550111033 0.00003
NM_000179.3(MSH6):c.-8C>T rs565211544 0.00003
NM_000179.3(MSH6):c.1049C>T (p.Ala350Val) rs587782331 0.00003
NM_000251.3(MSH2):c.1963G>A (p.Val655Ile) rs549467183 0.00003
NM_000251.3(MSH2):c.2120G>A (p.Cys707Tyr) rs373226409 0.00003
NM_000251.3(MSH2):c.2205C>T (p.Ile735=) rs533553381 0.00003
NM_000335.5(SCN5A):c.3048G>A (p.Thr1016=) rs376734571 0.00003
NM_000335.5(SCN5A):c.3508+11G>A rs200058362 0.00003
NM_000455.5(STK11):c.464+10C>T rs587782445 0.00003
NM_000455.5(STK11):c.552C>T (p.Leu184=) rs587780719 0.00003
NM_000540.3(RYR1):c.345+15G>A rs199755207 0.00003
NM_000546.6(TP53):c.920-5C>T rs34361146 0.00003
NM_000719.7(CACNA1C):c.3157-7C>T rs759274364 0.00003
NM_001018005.2(TPM1):c.375-3C>T rs202228866 0.00003
NM_001035.3(RYR2):c.13175A>G (p.Lys4392Arg) rs753733164 0.00003
NM_001035.3(RYR2):c.1962-13C>T rs549804448 0.00003
NM_001035.3(RYR2):c.2396+10T>C rs745329806 0.00003
NM_001035.3(RYR2):c.5001T>C (p.Leu1667=) rs397516537 0.00003
NM_001035.3(RYR2):c.8515-7A>G rs766622060 0.00003
NM_001042492.3(NF1):c.*4T>C rs201044568 0.00003
NM_001103.4(ACTN2):c.18C>T (p.Pro6=) rs368367224 0.00003
NM_001354604.2(MITF):c.1569G>A (p.Glu523=) rs200830148 0.00003
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=) rs587780841 0.00003
NM_001613.4(ACTA2):c.165C>T (p.Tyr55=) rs747205071 0.00003
NM_002471.4(MYH6):c.3860-15T>G rs200883903 0.00003
NM_002691.4(POLD1):c.841-10A>G rs140160345 0.00003
NM_003098.3(SNTA1):c.114C>T (p.Asp38=) rs780018849 0.00003
NM_004006.3(DMD):c.4373T>A (p.Phe1458Tyr) rs777274879 0.00003
NM_004333.6(BRAF):c.1068A>G (p.Gln356=) rs143335467 0.00003
NM_004333.6(BRAF):c.1694+14G>A rs184144181 0.00003
NM_004333.6(BRAF):c.2136C>T (p.Ala712=) rs377165711 0.00003
NM_004333.6(BRAF):c.608+18C>T rs764984248 0.00003
NM_004333.6(BRAF):c.708C>T (p.Asn236=) rs138333692 0.00003
NM_004360.5(CDH1):c.1161C>T (p.Asn387=) rs111266450 0.00003
NM_004360.5(CDH1):c.2331C>T (p.Asp777=) rs114265540 0.00003
NM_004360.5(CDH1):c.304G>A (p.Ala102Thr) rs368492235 0.00003
NM_005343.4(HRAS):c.54G>A (p.Ala18=) rs148380285 0.00003
NM_005502.4(ABCA1):c.3515A>G (p.Glu1172Gly) rs142877738 0.00003
NM_005633.4(SOS1):c.141T>C (p.Tyr47=) rs201649682 0.00003
NM_005633.4(SOS1):c.510+9C>G rs553448375 0.00003
NM_005751.5(AKAP9):c.6330+19T>C rs376744370 0.00003
NM_006506.5(RASA2):c.1314C>T (p.Ile438=) rs751326898 0.00003
NM_006939.4(SOS2):c.-4G>A rs777488196 0.00003
NM_007078.3(LDB3):c.900C>A (p.Thr300=) rs760071118 0.00003
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys) rs80357413 0.00003
NM_007294.4(BRCA1):c.671-8A>G rs80358144 0.00003
NM_007294.4(BRCA1):c.81-6T>C rs80358179 0.00003
NM_007294.4(BRCA1):c.811G>A (p.Val271Met) rs80357244 0.00003
NM_007373.4(SHOC2):c.886C>T (p.Leu296=) rs199723694 0.00003
NM_013975.4(LIG3):c.1208+3G>T rs375260860 0.00003
NM_016203.4(PRKAG2):c.*2C>T rs199559205 0.00003
NM_020297.4(ABCC9):c.3357G>A (p.Leu1119=) rs2287626 0.00003
NM_022124.6(CDH23):c.9014C>G (p.Ala3005Gly) rs188966938 0.00003
NM_030662.4(MAP2K2):c.534C>G (p.Leu178=) rs765573431 0.00003
NM_032043.3(BRIP1):c.2748C>T (p.Tyr916=) rs555200296 0.00003
NM_139276.3(STAT3):c.1465-16G>A rs189319171 0.00003
NM_144670.6(A2ML1):c.21A>G (p.Leu7=) rs529431349 0.00003
NM_144670.6(A2ML1):c.3339+20G>A rs758617412 0.00003
NM_206933.4(USH2A):c.3532C>G (p.Pro1178Ala) rs372081834 0.00003
NM_000038.6(APC):c.1554G>A (p.Thr518=) rs546568052 0.00002
NM_000038.6(APC):c.5363G>A (p.Arg1788His) rs201472075 0.00002
NM_000038.6(APC):c.7821C>T (p.Ser2607=) rs532235331 0.00002
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser) rs80358463 0.00002
NM_000059.4(BRCA2):c.1804G>A (p.Gly602Arg) rs80358466 0.00002
NM_000059.4(BRCA2):c.3304A>T (p.Asn1102Tyr) rs28897719 0.00002
NM_000059.4(BRCA2):c.3916G>A (p.Val1306Ile) rs80358636 0.00002
NM_000059.4(BRCA2):c.794-11T>C rs81002822 0.00002
NM_000059.4(BRCA2):c.8573A>G (p.Gln2858Arg) rs80359114 0.00002
NM_000059.4(BRCA2):c.8972G>A (p.Arg2991His) rs80359150 0.00002
NM_000059.4(BRCA2):c.9085G>A (p.Ala3029Thr) rs56179254 0.00002
NM_000077.5(CDKN2A):c.*6C>G rs375628411 0.00002
NM_000152.5(GAA):c.-2C>T rs560511228 0.00002
NM_000218.3(KCNQ1):c.1794+16G>A rs199660137 0.00002
NM_000238.4(KCNH2):c.2331C>T (p.Thr777=) rs41307292 0.00002
NM_000249.4(MLH1):c.303T>G (p.Gly101=) rs4647220 0.00002
NM_000258.3(MYL3):c.219C>T (p.Tyr73=) rs780500137 0.00002
NM_000335.5(SCN5A):c.2976C>T (p.Pro992=) rs193922725 0.00002
NM_000388.4(CASR):c.1732+17T>G rs201033132 0.00002
NM_000393.5(COL5A2):c.799-6A>G rs111586240 0.00002
NM_000455.5(STK11):c.735C>G (p.Leu245=) rs773147894 0.00002
NM_000719.7(CACNA1C):c.2339+20C>A rs201164691 0.00002
NM_000719.7(CACNA1C):c.372-9C>G rs367763190 0.00002
NM_001035.3(RYR2):c.12648G>A (p.Ala4216=) rs781557399 0.00002
NM_001035.3(RYR2):c.463+7A>G rs755850445 0.00002
NM_001085049.3(MRAS):c.369C>T (p.Leu123=) rs145069429 0.00002
NM_001103.4(ACTN2):c.1425C>T (p.Asp475=) rs148223734 0.00002
NM_001110792.2(MECP2):c.108A>G (p.Lys36=) rs782202329 0.00002
NM_001110792.2(MECP2):c.645G>A (p.Thr215=) rs61749722 0.00002
NM_001148.6(ANK2):c.1680C>T (p.Thr560=) rs752903781 0.00002
NM_001148.6(ANK2):c.5715G>A (p.Ser1905=) rs143404578 0.00002
NM_001267550.2(TTN):c.24075T>G (p.Ile8025Met) rs371496970 0.00002
NM_001267550.2(TTN):c.67809G>A (p.Ala22603=) rs548223512 0.00002
NM_001267550.2(TTN):c.88895-18C>T rs547463003 0.00002
NM_001276345.2(TNNT2):c.63T>G (p.Val21=) rs397516477 0.00002
NM_001458.5(FLNC):c.1209G>A (p.Ala403=) rs746938160 0.00002
NM_001999.4(FBN2):c.7961-10G>A rs752746367 0.00002
NM_002471.4(MYH6):c.1047C>T (p.Gly349=) rs370709048 0.00002
NM_002474.3(MYH11):c.2112G>A (p.Val704=) rs781085663 0.00002
NM_002474.3(MYH11):c.2361C>T (p.Thr787=) rs763003023 0.00002
NM_002880.4(RAF1):c.1668+4A>G rs771344560 0.00002
NM_002880.4(RAF1):c.639T>C (p.Thr213=) rs397516823 0.00002
NM_004100.5(EYA4):c.370+16C>T rs376239950 0.00002
NM_004281.4(BAG3):c.897C>T (p.Val299=) rs763915884 0.00002
NM_004333.6(BRAF):c.138+17C>G rs756400234 0.00002
NM_004415.4(DSP):c.3303C>T (p.Tyr1101=) rs372440854 0.00002
NM_004415.4(DSP):c.6655G>A (p.Val2219Ile) rs397516953 0.00002
NM_005184.4(CALM3):c.249G>A (p.Glu83=) rs755348000 0.00002
NM_006767.4(LZTR1):c.1615+4C>T rs551144605 0.00002
NM_006767.4(LZTR1):c.1749C>T (p.Cys583=) rs758399311 0.00002
NM_007294.4(BRCA1):c.1001C>T (p.Pro334Leu) rs41286290 0.00002
NM_007294.4(BRCA1):c.2525A>G (p.Glu842Gly) rs28897684 0.00002
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr) rs80357480 0.00002
NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp) rs80356876 0.00002
NM_007294.4(BRCA1):c.4955T>C (p.Met1652Thr) rs80356968 0.00002
NM_007294.4(BRCA1):c.5074+6C>G rs80358032 0.00002
NM_007294.4(BRCA1):c.5402G>A (p.Gly1801Asp) rs531210457 0.00002
NM_007294.4(BRCA1):c.5576C>G (p.Pro1859Arg) rs80357322 0.00002
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327 0.00002
NM_007373.4(SHOC2):c.894A>C (p.Ala298=) rs767912952 0.00002
NM_014476.6(PDLIM3):c.114G>A (p.Ala38=) rs377383830 0.00002
NM_014476.6(PDLIM3):c.663-16C>T rs527271064 0.00002
NM_020297.4(ABCC9):c.3331T>C (p.Leu1111=) rs764155671 0.00002
NM_020297.4(ABCC9):c.928C>T (p.Leu310=) rs747640613 0.00002
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg) rs749494645 0.00002
NM_024675.4(PALB2):c.2228A>G (p.Tyr743Cys) rs141749524 0.00002
NM_030662.4(MAP2K2):c.450+13G>A rs572847821 0.00002
NM_053025.4(MYLK):c.2760C>T (p.Ala920=) rs368080781 0.00002
NM_058216.3(RAD51C):c.945T>C (p.Phe315=) rs201235884 0.00002
NM_152594.3(SPRED1):c.879G>A (p.Leu293=) rs535687467 0.00002
NM_000038.6(APC):c.5298T>C (p.Asp1766=) rs781533317 0.00001
NM_000038.6(APC):c.597G>A (p.Ala199=) rs587780601 0.00001
NM_000038.6(APC):c.6948A>G (p.Pro2316=) rs202144406 0.00001
NM_000038.6(APC):c.993G>A (p.Ser331=) rs148343173 0.00001
NM_000039.3(APOA1):c.201-9A>G rs377207262 0.00001
NM_000051.4(ATM):c.2879C>A (p.Pro960His) rs587779828 0.00001
NM_000051.4(ATM):c.8987+3G>A rs56360226 0.00001
NM_000059.4(BRCA2):c.1810A>G (p.Lys604Glu) rs80358467 0.00001
NM_000059.4(BRCA2):c.2127G>C (p.Leu709=) rs554040246 0.00001
NM_000059.4(BRCA2):c.2416G>C (p.Asp806His) rs56404215 0.00001
NM_000059.4(BRCA2):c.2698A>G (p.Asn900Asp) rs55736268 0.00001
NM_000059.4(BRCA2):c.2946A>G (p.Ile982Met) rs80358541 0.00001
NM_000059.4(BRCA2):c.3495T>C (p.His1165=) rs776655838 0.00001
NM_000059.4(BRCA2):c.4599A>C (p.Lys1533Asn) rs80358694 0.00001
NM_000059.4(BRCA2):c.53G>A (p.Arg18His) rs80358762 0.00001
NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val) rs56191579 0.00001
NM_000059.4(BRCA2):c.6953G>A (p.Arg2318Gln) rs80358921 0.00001
NM_000059.4(BRCA2):c.7232A>C (p.Lys2411Thr) rs80358950 0.00001
NM_000059.4(BRCA2):c.7307A>T (p.Asn2436Ile) rs80358955 0.00001
NM_000059.4(BRCA2):c.7448G>A (p.Ser2483Asn) rs80358967 0.00001
NM_000059.4(BRCA2):c.8488-19G>A rs398122607 0.00001
NM_000059.4(BRCA2):c.8764A>G (p.Ser2922Gly) rs80359132 0.00001
NM_000059.4(BRCA2):c.9509A>G (p.Asp3170Gly) rs80359224 0.00001
NM_000059.4(BRCA2):c.9581C>A (p.Pro3194Gln) rs28897760 0.00001
NM_000069.3(CACNA1S):c.766A>G (p.Ile256Val) rs190152688 0.00001
NM_000075.4(CDK4):c.523-4T>A rs587780667 0.00001
NM_000077.5(CDKN2A):c.151-4G>C rs529380972 0.00001
NM_000089.4(COL1A2):c.2777G>A (p.Arg926His) rs200331961 0.00001
NM_000090.4(COL3A1):c.1509+7A>C rs201740954 0.00001
NM_000090.4(COL3A1):c.2607T>A (p.Pro869=) rs376643618 0.00001
NM_000093.5(COL5A1):c.2845-8G>A rs775063630 0.00001
NM_000138.5(FBN1):c.3043G>A (p.Ala1015Thr) rs55831697 0.00001
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser) rs375996640 0.00001
NM_000138.5(FBN1):c.3969C>T (p.Ile1323=) rs536546914 0.00001
NM_000138.5(FBN1):c.6038-8T>A rs569460847 0.00001
NM_000138.5(FBN1):c.75G>A (p.Ala25=) rs543230518 0.00001
NM_000179.3(MSH6):c.3647-7T>G rs780269667 0.00001
NM_000179.3(MSH6):c.846G>C (p.Val282=) rs573638836 0.00001
NM_000218.3(KCNQ1):c.1608C>T (p.Tyr536=) rs138551008 0.00001
NM_000249.4(MLH1):c.1990-6G>A rs117221851 0.00001
NM_000251.3(MSH2):c.942+5A>G rs769242733 0.00001
NM_000251.3(MSH2):c.972G>A (p.Gln324=) rs63750505 0.00001
NM_000314.8(PTEN):c.321T>C (p.Asp107=) rs372876243 0.00001
NM_000352.6(ABCC8):c.3989-10C>T rs373737642 0.00001
NM_000368.5(TSC1):c.651A>G (p.Glu217=) rs766250769 0.00001
NM_000393.5(COL5A2):c.1542T>C (p.Pro514=) rs770622592 0.00001
NM_000455.5(STK11):c.972G>A (p.Pro324=) rs553474397 0.00001
NM_000465.4(BARD1):c.882G>A (p.Arg294=) rs778855056 0.00001
NM_000486.6(AQP2):c.375G>A (p.Thr125=) rs772192893 0.00001
NM_000545.8(HNF1A):c.1800C>T (p.Ser600=) rs756416683 0.00001
NM_000546.6(TP53):c.885T>C (p.Pro295=) rs200073907 0.00001
NM_000548.5(TSC2):c.3711G>A (p.Ala1237=) rs754945653 0.00001
NM_000719.7(CACNA1C):c.1428C>T (p.Thr476=) rs750843602 0.00001
NM_000719.7(CACNA1C):c.579C>T (p.Asn193=) rs561224137 0.00001
NM_001005242.3(PKP2):c.1539C>T (p.Asn513=) rs535581825 0.00001
NM_001035.3(RYR2):c.10155A>G (p.Leu3385=) rs543120030 0.00001
NM_001035.3(RYR2):c.10200T>C (p.Ala3400=) rs779316628 0.00001
NM_001035.3(RYR2):c.3537T>C (p.Gly1179=) rs397516526 0.00001
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp) rs773378630 0.00001
NM_001042492.3(NF1):c.888+5G>A rs556444929 0.00001
NM_001085049.3(MRAS):c.525T>C (p.Ile175=) rs568889988 0.00001
NM_001148.6(ANK2):c.5508C>T (p.Ser1836=) rs766217545 0.00001
NM_001164508.2(NEB):c.20089G>A (p.Gly6697Arg) rs201071685 0.00001
NM_001165963.4(SCN1A):c.2044-20A>G rs777660738 0.00001
NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val) rs373967247 0.00001
NM_001267550.2(TTN):c.72105T>C (p.Phe24035=) rs397517691 0.00001
NM_001267550.2(TTN):c.72803G>A (p.Arg24268His) rs140018785 0.00001
NM_001371904.1(APOA5):c.764A>G (p.Glu255Gly) rs543375884 0.00001
NM_001378454.1(ALMS1):c.5245A>G (p.Thr1749Ala) rs546111188 0.00001
NM_001999.4(FBN2):c.522T>C (p.Tyr174=) rs573915338 0.00001
NM_001999.4(FBN2):c.5487C>T (p.Gly1829=) rs375136629 0.00001
NM_002230.4(JUP):c.1774-16C>T rs371727352 0.00001
NM_002230.4(JUP):c.1815C>T (p.Ala605=) rs543862977 0.00001
NM_002471.4(MYH6):c.3909G>C (p.Leu1303=) rs572682388 0.00001
NM_002471.4(MYH6):c.5565+8G>A rs751363583 0.00001
NM_002474.3(MYH11):c.2653-7C>T rs372698538 0.00001
NM_002474.3(MYH11):c.5580C>T (p.Asp1860=) rs750821241 0.00001
NM_002524.5(NRAS):c.159G>A (p.Leu53=) rs114668710 0.00001
NM_002734.5(PRKAR1A):c.63C>T (p.Tyr21=) rs777110464 0.00001
NM_002755.4(MAP2K1):c.804C>G (p.Ala268=) rs371652992 0.00001
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=) rs374896287 0.00001
NM_002834.5(PTPN11):c.951G>A (p.Lys317=) rs576405446 0.00001
NM_002880.4(RAF1):c.1141G>A (p.Asp381Asn) rs559632360 0.00001
NM_002880.4(RAF1):c.1193+18G>C rs201845942 0.00001
NM_002880.4(RAF1):c.1914G>A (p.Thr638=) rs144876026 0.00001
NM_002880.4(RAF1):c.907A>G (p.Thr303Ala) rs775898894 0.00001
NM_003036.4(SKI):c.405G>T (p.Ser135=) rs769774481 0.00001
NM_003242.6(TGFBR2):c.1014G>A (p.Thr338=) rs764720370 0.00001
NM_003242.6(TGFBR2):c.75A>G (p.Pro25=) rs572435149 0.00001
NM_004006.3(DMD):c.6140A>G (p.Gln2047Arg) rs773782786 0.00001
NM_004329.3(BMPR1A):c.1536C>T (p.Leu512=) rs758796892 0.00001
NM_004329.3(BMPR1A):c.682C>A (p.Arg228=) rs587782682 0.00001
NM_004333.6(BRAF):c.951C>A (p.Ser317=) rs755298519 0.00001
NM_004333.6(BRAF):c.976A>G (p.Ile326Val) rs775040765 0.00001
NM_004360.5(CDH1):c.2638G>A (p.Glu880Lys) rs34507583 0.00001
NM_004360.5(CDH1):c.546A>C (p.Lys182Asn) rs201141645 0.00001
NM_004360.5(CDH1):c.570C>T (p.Tyr190=) rs761753486 0.00001
NM_004360.5(CDH1):c.604G>A (p.Val202Ile) rs546716073 0.00001
NM_004360.5(CDH1):c.897C>T (p.Ala299=) rs769799936 0.00001
NM_004415.4(DSP):c.8191T>C (p.Tyr2731His) rs201397978 0.00001
NM_004655.4(AXIN2):c.1671C>T (p.Ser557=) rs763146338 0.00001
NM_005159.5(ACTC1):c.129+19_129+20insT rs386134228 0.00001
NM_005159.5(ACTC1):c.617-7T>C rs750536667 0.00001
NM_005343.4(HRAS):c.378A>G (p.Glu126=) rs397517140 0.00001
NM_005343.4(HRAS):c.510G>A (p.Lys170=) rs397517143 0.00001
NM_005359.6(SMAD4):c.693C>T (p.Gly231=) rs765597059 0.00001
NM_005633.4(SOS1):c.3391+3T>C rs761579423 0.00001
NM_005633.4(SOS1):c.3552T>G (p.Pro1184=) rs200485215 0.00001
NM_005902.4(SMAD3):c.798G>A (p.Ser266=) rs761391442 0.00001
NM_006270.5(RRAS):c.372G>A (p.Thr124=) rs368978550 0.00001
NM_006393.3(NEBL):c.2913C>T (p.Asp971=) rs575423101 0.00001
NM_006767.4(LZTR1):c.450C>T (p.Asn150=) rs560328641 0.00001
NM_006767.4(LZTR1):c.522T>G (p.Ala174=) rs745514794 0.00001
NM_006939.4(SOS2):c.859-10A>T rs761341096 0.00001
NM_007078.3(LDB3):c.2091C>T (p.Cys697=) rs571356142 0.00001
NM_007294.4(BRCA1):c.1105G>A (p.Asp369Asn) rs56056711 0.00001
NM_007294.4(BRCA1):c.154C>T (p.Leu52Phe) rs80357084 0.00001
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu) rs80356927 0.00001
NM_007294.4(BRCA1):c.3448C>T (p.Pro1150Ser) rs80357272 0.00001
NM_007294.4(BRCA1):c.3541G>A (p.Val1181Ile) rs56336919 0.00001
NM_007294.4(BRCA1):c.3717T>A (p.Ser1239=) rs730881453 0.00001
NM_007294.4(BRCA1):c.3797G>C (p.Ser1266Thr) rs80357160 0.00001
NM_007294.4(BRCA1):c.4097-10G>A rs80358057 0.00001
NM_007294.4(BRCA1):c.4204C>T (p.His1402Tyr) rs80357365 0.00001
NM_007294.4(BRCA1):c.4347A>G (p.Thr1449=) rs80356840 0.00001
NM_007294.4(BRCA1):c.4485-10A>G rs863224420 0.00001
NM_007294.4(BRCA1):c.4910C>T (p.Pro1637Leu) rs80357048 0.00001
NM_007294.4(BRCA1):c.4985T>C (p.Phe1662Ser) rs28897695 0.00001
NM_007294.4(BRCA1):c.5075-9A>T rs80358059 0.00001
NM_007294.4(BRCA1):c.5153-13A>G rs45471406 0.00001
NM_007294.4(BRCA1):c.5333A>G (p.Asp1778Gly) rs80357041 0.00001
NM_007294.4(BRCA1):c.5412C>T (p.Val1804=) rs730881456 0.00001
NM_007294.4(BRCA1):c.81-17C>G rs757442952 0.00001
NM_014000.3(VCL):c.874+13T>C rs777617736 0.00001
NM_014697.3(NOS1AP):c.300G>A (p.Thr100=) rs578153577 0.00001
NM_015909.4(NBAS):c.2990A>C (p.Glu997Ala) rs538592084 0.00001
NM_016599.5(MYOZ2):c.75T>C (p.Asn25=) rs201476980 0.00001
NM_017617.5(NOTCH1):c.453C>T (p.Asn151=) rs368733465 0.00001
NM_017668.3(NDE1):c.948-5748G>A rs574893374 0.00001
NM_020297.4(ABCC9):c.1050C>T (p.Asn350=) rs143373045 0.00001
NM_020297.4(ABCC9):c.1770G>A (p.Thr590=) rs746239063 0.00001
NM_020975.6(RET):c.2538C>T (p.Leu846=) rs201816539 0.00001
NM_024422.6(DSC2):c.1971C>A (p.Gly657=) rs397517396 0.00001
NM_024422.6(DSC2):c.2379C>A (p.Thr793=) rs773813155 0.00001
NM_024675.4(PALB2):c.495C>T (p.Gly165=) rs200937538 0.00001
NM_032043.3(BRIP1):c.1442G>A (p.Gly481Asp) rs200062099 0.00001
NM_032043.3(BRIP1):c.1474-3T>C rs552752779 0.00001
NM_032043.3(BRIP1):c.225C>T (p.Gly75=) rs186802750 0.00001
NM_053025.4(MYLK):c.3209A>G (p.Asp1070Gly) rs751450529 0.00001
NM_053025.4(MYLK):c.4920C>T (p.Tyr1640=) rs756699701 0.00001
NM_138694.4(PKHD1):c.7482A>T (p.Gly2494=) rs199996156 0.00001
NM_138694.4(PKHD1):c.7873T>C (p.Leu2625=) rs140033417 0.00001
NM_144670.6(A2ML1):c.1538-13T>A rs765050311 0.00001
NM_144670.6(A2ML1):c.2676C>T (p.Gly892=) rs188045880 0.00001
NM_144670.6(A2ML1):c.3264+5G>A rs200006435 0.00001
NM_144670.6(A2ML1):c.3933+14C>T rs200874703 0.00001
NM_144670.6(A2ML1):c.483+6C>T rs754169968 0.00001
NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys) rs138453594 0.00001
NM_152594.3(SPRED1):c.446G>A (p.Ser149Asn) rs373384814 0.00001
NM_174936.4(PCSK9):c.1560C>T (p.Val520=) rs542863545 0.00001
NM_203447.4(DOCK8):c.3079G>A (p.Val1027Ile) rs199782622 0.00001
FBN1:c.3589+62_3589+71del rs72132658
MSH6:c.3647-51_3647-35del17 rs267607687
MYH11:c.503-14_503-12del rs141564071
NC_000002.11:g.(228235697_228243801)_(228244023_?)dup
NC_000008.10:g.(11352101_11400732)_(11422109_?)dup
NM_000019.4(ACAT1):c.*6dup rs111390656
NM_000019.4(ACAT1):c.826+85_826+86insGTAA rs10682490
NM_000023.4(SGCA):c.747+21C>T
NM_000030.3(AGXT):c.165+16A>G rs66494441
NM_000030.3(AGXT):c.32C>T (p.Pro11Leu) rs34116584
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) rs386833391
NM_000038.6(APC):c.5268T>A (p.Ser1756=) rs866006
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup) rs587780602
NM_000038.6(APC):c.777G>T (p.Arg259=) rs147704593
NM_000038.6(APC):c.[5026A>G;7399C>A]
NM_000039.3(APOA1):c.564C>G (p.Ala188=) rs558064576
NM_000044.6(AR):c.171GCA[28] (p.Gln76_Gln80dup) rs3032358
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del) rs550086186
NM_000051.4(ATM):c.2922-8del rs373881770
NM_000051.4(ATM):c.2922-8dup rs373881770
NM_000051.4(ATM):c.5556_5557delinsGA (p.Asp1853Asn) rs2083595502
NM_000051.4(ATM):c.6808-72ATT[4] rs3212322
NM_000051.4(ATM):c.7516-9dup rs573494809
NM_000053.4(ATP7B):c.-123_-119dupCGCCG rs148013251
NM_000059.4(BRCA2):c.10095delinsGAATTATATCT (p.Ser3366fs) rs276174803
NM_000059.4(BRCA2):c.1166C>A (p.Pro389Gln) rs397507263
NM_000059.4(BRCA2):c.2926_2927delinsAT (p.Ser976Ile) rs276174831
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.4(BRCA2):c.5095G>A (p.Asp1699Asn) rs80358731
NM_000059.4(BRCA2):c.6513G>C (p.Val2171=) rs206076
NM_000059.4(BRCA2):c.68-7dup rs276174878
NM_000059.4(BRCA2):c.6938-25_6938-19del rs762815401
NM_000059.4(BRCA2):c.7242A>G (p.Ser2414=) rs1799955
NM_000059.4(BRCA2):c.7985C>T (p.Thr2662Met) rs431825362
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.8954-5_8954-2del rs587782878
NM_000059.4(BRCA2):c.9104A>C (p.Tyr3035Ser) rs80359165
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu) rs80359167
NM_000059.4(BRCA2):c.9257-8C>T rs11571819
NM_000061.3(BTK):c.391+143dup rs193922127
NM_000071.2(CBS):c.843_844ins68 (p.?)
NM_000077.5(CDKN2A):c.369T>A (p.His123Gln) rs6413463
NM_000089.4(COL1A2):c.594+118del rs193922172
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.4(COL3A1):c.2022+17T>C
NM_000091.5(COL4A3):c.127G>C (p.Gly43Arg) rs13424243
NM_000093.5(COL5A1):c.1191G>T (p.Ala397=) rs199755089
NM_000093.5(COL5A1):c.1332+16C>T
NM_000093.5(COL5A1):c.1390-18CT[3] rs863223441
NM_000093.5(COL5A1):c.1977C>T (p.Asp659=) rs370766020
NM_000093.5(COL5A1):c.2592+16C>G rs145429817
NM_000093.5(COL5A1):c.2800-18C>A rs73664144
NM_000093.5(COL5A1):c.2800-18C>T rs73664144
NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=) rs2228560
NM_000093.5(COL5A1):c.4482G>C (p.Pro1494=) rs2228560
NM_000117.3(EMD):c.266-35_266-18dup rs200992013
NM_000122.2(ERCC3):c.1960G>A (p.Glu654Lys) rs568193912
NM_000123.4(ERCC5):c.3157= (p.Gly1053=)
NM_000123.4(ERCC5):c.3238= (p.Gly1080=)
NM_000138.5(FBN1):c.2855-139dup rs200982490
NM_000138.5(FBN1):c.3337+13del rs563620440
NM_000138.5(FBN1):c.3464-16_3464-14del rs775944757
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser) rs363835
NM_000138.5(FBN1):c.737-25CT[2] rs72041020
NM_000138.5(FBN1):c.7699+18C>T rs753819758
NM_000152.5(GAA):c.858+17_858+23del rs1555599723
NM_000152.5(GAA):c.858+7_858+8insAGCGGGC rs3071247
NM_000153.4(GALC):c.1162-4del rs11300320
NM_000155.3(GALT):c.-1004delT rs201344398
NM_000155.3(GALT):c.-1004dupT rs201344398
NM_000155.3(GALT):c.-1005_-1004dupTT rs201344398
NM_000155.3(GALT):c.-631_-630delAG rs149007102
NM_000155.3(GALT):c.-837delT rs549043849
NM_000155.3(GALT):c.-837dupT rs549043849
NM_000155.3(GALT):c.-838_-837dupTT rs549043849
NM_000155.3(GALT):c.-839_-837dupTTT rs549043849
NM_000155.3(GALT):c.-840_-837dupTTTT rs549043849
NM_000155.3(GALT):c.-841_-837dupTTTTT rs549043849
NM_000155.3(GALT):c.-842_-837dupTTTTTT rs549043849
NM_000155.3(GALT):c.-843_-837dupTTTTTTT rs549043849
NM_000155.4(GALT):c.1060-79_1060-71dup rs56121779
NM_000155.4(GALT):c.508-17G>A rs12000481
NM_000157.4(GBA1):c.589-86A>G rs2974923
NM_000170.3(GLDC):c.1545G>A (p.Arg515=) rs121964976
NM_000170.3(GLDC):c.2316-6dup rs3215923
NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile) rs576269342
NM_000179.3(MSH6):c.3173-18T>C rs189672273
NM_000179.3(MSH6):c.3246G>A (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3354G>A (p.Glu1118=) rs35642130
NM_000179.3(MSH6):c.3384T>C (p.Tyr1128=) rs544518097
NM_000179.3(MSH6):c.3439-26_3439-25del rs750310368
NM_000179.3(MSH6):c.3556+36_3556+39del rs55684722
NM_000179.3(MSH6):c.3557-4dup rs267608102
NM_000179.3(MSH6):c.3647-35_3647-34insTTTGTTCTAATTCCTTT rs397515292
NM_000179.3(MSH6):c.3647-6T>C rs182871847
NM_000179.3(MSH6):c.3852G>T (p.Thr1284=) rs2229018
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4001+2TAAC[4] rs267608132
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer) rs55740729
NM_000179.3(MSH6):c.627+25_627+27del rs560035113
NM_000199.5(SGSH):c.664-39_664-36delinsGC rs386799751
NM_000203.5(IDUA):c.1190-10del rs150523349
NM_000203.5(IDUA):c.1190-10dup rs150523349
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln) rs3755955
NM_000203.5(IDUA):c.590-8C>T rs6848974
NM_000209.4(PDX1):c.693C>T (p.Ser231=) rs200411304
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro) rs193922357
NM_000215.4(JAK3):c.1142+13C>A rs3212733
NM_000215.4(JAK3):c.308+16del rs3212717
NM_000218.3(KCNQ1):c.1394-8C>T rs371488379
NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=) rs112113213
NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=) rs139042529
NM_000218.3(KCNQ1):c.781-19TG[2] rs727503103
NM_000237.3(LPL):c.678A>G (p.Pro226=) rs558390128
NM_000238.4(KCNH2):c.1320G>T (p.Pro440=) rs144926928
NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000238.4(KCNH2):c.3331-13GT[2] rs41313749
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1]) rs551056698
NM_000243.3(MEFV):c.414A>G (p.Gly138=) rs224224
NM_000245.4(MET):c.2584-7del rs587780736
NM_000245.4(MET):c.3936-13_3936-10del rs745366999
NM_000249.4(MLH1):c.*32CTT[1] rs193922366
NM_000251.3(MSH2):c.1387-14_1387-11del rs370436680
NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del) rs267607919
NM_000251.3(MSH2):c.67T>C (p.Phe23Leu) rs372619120
NM_000251.3(MSH2):c.942+29del rs11309117
NM_000256.3(MYBPC3):c.1457+20_1457+21delinsTT rs2095890222
NM_000256.3(MYBPC3):c.3628-41_3628-17del rs36212066
NM_000256.3(MYBPC3):c.705_706inv (p.Ser236Gly)
NM_000260.4(MYO7A):c.3503+12_3503+33del rs111033223
NM_000263.4(NAGLU):c.2209C>G (p.Arg737Gly) rs86312
NM_000264.5(PTCH1):c.-24GGC[5] rs71366293
NM_000264.5(PTCH1):c.-24GGC[8] rs71366293
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu) rs357564
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=) rs62637631
NM_000265.7(NCF1):c.295= (p.Ser99=) rs10614
NM_000271.5(NPC1):c.1947+8dup rs3837910
NM_000277.3(PAH):c.510-20_510-18dup rs398123293
NM_000282.4(PCCA):c.184-17_184-16del rs111778723
NM_000286.3(PEX12):c.681-3_681-2del rs138568975
NM_000302.4(PLOD1):c.1328+17T>G
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn) rs142978362
NM_000303.3(PMM2):c.447+19T>C rs11074924
NM_000305.3(PON2):c.195T>C (p.Phe65=)
NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del) rs72555383
NM_000308.4(CTSA):c.33GCT[9] (p.Leu19dup) rs72555383
NM_000314.8(PTEN):c.165-24TTTG[2] rs786204877
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000321.3(RB1):c.1390-17del rs753535084
NM_000321.3(RB1):c.1390-17dup rs753535084
NM_000321.3(RB1):c.1499-10del rs148580581
NM_000321.3(RB1):c.45_53del (p.Ala16_Ala18del) rs572454921
NM_000321.3(RB1):c.608-4del rs762805947
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000337.6(SGCD):c.105G>C (p.Leu35=) rs193922392
NM_000337.6(SGCD):c.3+19C>T rs182715924
NM_000337.6(SGCD):c.383-33CTCTCTAT[2] rs727504998
NM_000337.6(SGCD):c.383-33CTCTCTAT[4] rs727504998
NM_000337.6(SGCD):c.699+13_699+15del rs397517924
NM_000363.5(TNNI3):c.12-7del rs370714315
NM_000363.5(TNNI3):c.282+16_282+17delinsTT rs1555864004
NM_000368.5(TSC1):c.2626-21_2626-19dup rs5901000
NM_000368.5(TSC1):c.2626-4del rs5901000
NM_000368.5(TSC1):c.2626-4dup rs5901000
NM_000368.5(TSC1):c.2626-5_2626-4dup rs5901000
NM_000368.5(TSC1):c.3112AGC[7] (p.Ser1043dup) rs2234980
NM_000370.3(TTPA):c.359-3del rs398123340
NM_000371.4(TTR):c.337-14_337-11del rs112263266
NM_000371.4(TTR):c.372C>G (p.Arg124=) rs780119793
NM_000371.4(TTR):c.70-7C>T rs587780990
NM_000377.3(WAS):c.273+10_273+11dup rs58371799
NM_000384.3(APOB):c.10740C>T (p.Asn3580=) rs150312765
NM_000393.5(COL5A2):c.1455+6G>A rs113512079
NM_000393.5(COL5A2):c.1455+6G>T rs113512079
NM_000393.5(COL5A2):c.2770-15del rs577038385
NM_000397.4(CYBB):c.1314+19C>T rs34834015
NM_000397.4(CYBB):c.1586+74_1586+76dup
NM_000404.4(GLB1):c.1310A>G (p.Asn437Ser) rs202237232
NM_000404.4(GLB1):c.792+10G>T rs79518579
NM_000412.5(HRG):c.392-3C>T
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000432.4(MYL2):c.274+16_274+17insTC rs200007468
NM_000432.4(MYL2):c.353+46dup rs142220381
NM_000455.5(STK11):c.1041G>A (p.Ala347=) rs537906142
NM_000455.5(STK11):c.1225C>A (p.Arg409=) rs368466538
NM_000455.5(STK11):c.96C>G (p.Thr32=) rs79175212
NM_000458.4(HNF1B):c.657C>T (p.Ser219=) rs148713761
NM_000465.4(BARD1):c.365-8del rs776103948
NM_000478.6(ALPL):c.472+12del rs35423948
NM_000492.4(CFTR):c.1584+53_1584+63dup rs397508232
NM_000492.4(CFTR):c.224G>A (p.Arg75Gln) rs1800076
NM_000492.4(CFTR):c.2684G>A (p.Ser895Asn) rs201864483
NM_000492.4(CFTR):c.3367+196C>T rs28449716
NM_000492.4(CFTR):c.3367+214_3367+259del rs149975806
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.4(CFTR):c.4243-35del rs193922527
NM_000492.4(CFTR):c.54-589A>G
NM_000517.6(HBA2):c.301-24delinsCTCGGCCC rs1596570272
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.1060+10G>C
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.2548-19G>A
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_000528.4(MAN2B1):c.1231-13C>T rs372848519
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
NM_000535.7(PMS2):c.1209C>T (p.Ser403=) rs147399413
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.2007-6C>G rs376018314
NM_000535.7(PMS2):c.2160G>A (p.Gly720=) rs546441038
NM_000535.7(PMS2):c.538-53_538-42dup rs775465039
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000543.4(SMPD1):c.126_143del (p.Ala44_Leu49del) rs3838786
NM_000543.5(SMPD1):c.107_112del (p.Val36_Leu37del) rs775860642
NM_000543.5(SMPD1):c.107_118del (p.Val36_Leu39del) rs550365194
NM_000543.5(SMPD1):c.107_124del (p.Val36_Leu41del) rs794726889
NM_000543.5(SMPD1):c.108GCTGGC[5] (p.38AL[5]) rs3838786
NM_000545.8(HNF1A):c.327-18G>A
NM_000545.8(HNF1A):c.519G>A (p.Val173=) rs534301078
NM_000546.6(TP53):c.63C>T (p.Asp21=) rs1800369
NM_000546.6(TP53):c.666G>T (p.Pro222=) rs72661118
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.5106C>A (p.Ile1702=) rs45483700
NM_000548.5(TSC2):c.5397G>C (p.Ser1799=) rs1051771
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=) rs199538058
NM_000719.7(CACNA1C):c.5680+11C>T rs66611965
NM_000719.7(CACNA1C):c.617+17_617+19delinsATC
NM_000823.4(GHRHR):c.975-18G>A rs188490880
NM_001005242.3(PKP2):c.2168-11del rs746936605
NM_001005242.3(PKP2):c.2168-21_2168-20del rs200266270
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001018115.3(FANCD2):c.1275C>T (p.Tyr425=) rs764447374
NM_001018115.3(FANCD2):c.1278+3_1278+6del rs369823368
NM_001018115.3(FANCD2):c.1278+5G>T rs796652647
NM_001032386.2(SUOX):c.1281G>C (p.Ser427=) rs773115
NM_001032386.2(SUOX):c.1281G>T (p.Ser427=) rs773115
NM_001034853.2(RPGR):c.1576CAA[1] (p.Gln527del) rs62653033
NM_001035.2(RYR2):c.14091-11dup rs35563566
NM_001035.3(RYR2):c.10935+17_10935+18delinsTT rs1690568496
NM_001035.3(RYR2):c.11092-13_11092-11dup rs397516499
NM_001035.3(RYR2):c.11403-16dup
NM_001035.3(RYR2):c.12609G>T (p.Ala4203=) rs372943408
NM_001035.3(RYR2):c.14091-12_14091-11dup rs35563566
NM_001035.3(RYR2):c.14152-16dup rs727503406
NM_001035.3(RYR2):c.14481C>A (p.Ile4827=) rs114303476
NM_001035.3(RYR2):c.1477-11del rs397516518
NM_001035.3(RYR2):c.1477-11dup rs397516518
NM_001035.3(RYR2):c.1477-12_1477-11del rs397516518
NM_001035.3(RYR2):c.1477-12_1477-11dup rs397516518
NM_001035.3(RYR2):c.1477-13_1477-11del rs397516518
NM_001035.3(RYR2):c.1477-13_1477-11dup rs397516518
NM_001035.3(RYR2):c.3599-9del rs11331089
NM_001035.3(RYR2):c.385-9A>C rs140998248
NM_001035.3(RYR2):c.4597-11del rs3841805
NM_001035.3(RYR2):c.4734C>T (p.Pro1578=) rs201880756
NM_001035.3(RYR2):c.5154G>A (p.Arg1718=) rs114534505
NM_001035.3(RYR2):c.7161G>A (p.Ala2387=) rs371560909
NM_001035.3(RYR2):c.7222-12dup rs145140335
NM_001035.3(RYR2):c.9318T>A (p.Ser3106=) rs2797436
NM_001035.3(RYR2):c.9601G>A (p.Val3201Met) rs762549821
NM_001037.5(SCN1B):c.207+13C>T rs373809858
NM_001037.5(SCN1B):c.448+167C>G rs529053826
NM_001039958.2(MESP2):c.558_573delinsAGGA (p.180QG[11])
NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln) rs111588143
NM_001041.4(SI):c.5198-20dup rs566002300
NM_001042492.3(NF1):c.3197+9dup rs755212937
NM_001042492.3(NF1):c.3198-4del rs371047262
NM_001042492.3(NF1):c.4174-8_4174-6del rs751729752
NM_001042492.3(NF1):c.61-14del rs376172637
NM_001042492.3(NF1):c.61-14dup rs376172637
NM_001042492.3(NF1):c.61-4del rs551568608
NM_001042492.3(NF1):c.6147+8C>G rs182709912
NM_001042492.3(NF1):c.6147+8C>T rs182709912
NM_001042492.3(NF1):c.6148-17dup rs33925668
NM_001042492.3(NF1):c.6148-18_6148-17dup rs33925668
NM_001042492.3(NF1):c.6922-14_6922-13del rs146785663
NM_001042492.3(NF1):c.7190-33TTGT[3] rs149197458
NM_001042492.3(NF1):c.7190-33TTGT[5] rs149197458
NM_001042492.3(NF1):c.7190-33TTGT[7] rs149197458
NM_001042492.3(NF1):c.7971-8del rs564545012
NM_001042545.2(LTBP4):c.3035dup (p.Tyr1013fs) rs59030801
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001079.4(ZAP70):c.474C>T (p.His158=) rs56404668
NM_001079802.2(FKTN):c.*4388del rs148253503
NM_001079802.2(FKTN):c.*4397_*4401del rs1047701788
NM_001085049.3(MRAS):c.528-2del rs541655371
NM_001103.4(ACTN2):c.1704G>A (p.Ala568=) rs369560444
NM_001103.4(ACTN2):c.18C>A (p.Pro6=) rs368367224
NM_001103.4(ACTN2):c.918C>T (p.Asn306=) rs148646265
NM_001105206.3(LAMA4):c.848_849= (p.Asp283=) rs71543223
NM_001110556.2(FLNA):c.-19dup rs782079491
NM_001110556.2(FLNA):c.3387C>T (p.Thr1129=) rs372874251
NM_001110556.2(FLNA):c.3805+15C>T rs144968452
NM_001110792.2(MECP2):c.-31AG[2] rs587783128
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup) rs398123566
NM_001126049.2(KLLN):c.-1007C>G rs587780001
NM_001126049.2(KLLN):c.-1007C>T rs587780001
NM_001126049.2(KLLN):c.-924G>C rs1218806407
NM_001134363.3(RBM20):c.1880+4_1880+6dup rs397516597
NM_001134363.3(RBM20):c.2303C>G (p.Ser768Trp) rs1417635
NM_001134363.3(RBM20):c.2303C>T (p.Ser768Leu) rs1417635
NM_001134363.3(RBM20):c.3317-20C>T rs202039414
NM_001134363.3(RBM20):c.3317-21_3317-20delinsTT rs1844942393
NM_001142800.2(EYS):c.6079-24TC[10] rs35395170
NM_001148.6(ANK2):c.10976G>T (p.Arg3659Leu) rs556640912
NM_001164508.2(NEB):c.154CTGGCACAGCCAGCA[1] (p.52LAQPA[1]) rs377452683
NM_001164508.2(NEB):c.19285_19286delinsAA (p.Ala6429Asn) rs796065338
NM_001164508.2(NEB):c.21418-6del rs56026241
NM_001164508.2(NEB):c.22161+18G>C rs6721666
NM_001164508.2(NEB):c.25405-17dup rs148839798
NM_001164508.2(NEB):c.9467T>A (p.Ile3156Asn) rs145770770
NM_001165963.4(SCN1A):c.2044-5del rs549232924
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) rs541666319
NM_001173990.3(TMEM216):c.432-1G>C rs10897158
NM_001177316.2(SLC34A3):c.*14A>C rs28591989
NM_001177316.2(SLC34A3):c.*14A>T
NM_001184.4(ATR):c.3120G>A (p.Leu1040=) rs28910272
NM_001184.4(ATR):c.4153-10del rs112116713
NM_001184.4(ATR):c.4153-21dup rs112116713
NM_001201550.3(CFHR4):c.1206G>A (p.Glu402=)
NM_001232.4(CASQ2):c.1185_1187del (p.Asp398del) rs397516641
NM_001232.4(CASQ2):c.738-10_738-5del rs56889721
NM_001232.4(CASQ2):c.738-12_738-5del rs56889721
NM_001232.4(CASQ2):c.738-6_738-5del rs56889721
NM_001232.4(CASQ2):c.738-8_738-5del rs56889721
NM_001232.4(CASQ2):c.738-9_738-5del rs56889721
NM_001244710.2(GFPT1):c.2056-11del rs201268947
NM_001250.6(CD40):c.647-3dup rs749590513
NM_001267550.2(TTN):c.100172-17dup rs397517782
NM_001267550.2(TTN):c.100766-10del rs749872538
NM_001267550.2(TTN):c.105787_105788delinsTT (p.Ala35263Phe) rs794729250
NM_001267550.2(TTN):c.11255-17_11255-16del rs72647895
NM_001267550.2(TTN):c.15178G>C (p.Val5060Leu) rs72648929
NM_001267550.2(TTN):c.23853C>A (p.Ala7951=) rs201766927
NM_001267550.2(TTN):c.26762-10_26762-9insTTGTTTTGTA rs1553893826
NM_001267550.2(TTN):c.26762-39TTTGT[10] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[11] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[12] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[5] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[7] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[8] rs71393436
NM_001267550.2(TTN):c.26762-39TTTGT[9] rs71393436
NM_001267550.2(TTN):c.30512-19dup rs397517532
NM_001267550.2(TTN):c.30683-17dup rs368277751
NM_001267550.2(TTN):c.30683-19del rs752002029
NM_001267550.2(TTN):c.30683-21_30683-19del rs752002029
NM_001267550.2(TTN):c.30683-28_30683-14del rs776394673
NM_001267550.2(TTN):c.30683-3del rs368277751
NM_001267550.2(TTN):c.33501AGA[6] (p.Glu11172dup) rs368327166
NM_001267550.2(TTN):c.34129GTTCTACCTGAAGAAGAGGAA[1] (p.11363VLPEEEE[3]) rs587780487
NM_001267550.2(TTN):c.34453+14G>A rs397517550
NM_001267550.2(TTN):c.39212-9C>A rs373056460
NM_001267550.2(TTN):c.39731TTGCTCCTGAAGAGGAAA[1] (p.13244IAPEEE[1]) rs139512154
NM_001267550.2(TTN):c.44210G>T (p.Arg14737Leu) rs373298007
NM_001267550.2(TTN):c.46065G>C (p.Lys15355Asn) rs397517583
NM_001267550.2(TTN):c.56910C>T (p.Gly18970=) rs148299739
NM_001267550.2(TTN):c.56962+21dup rs3214578
NM_001267550.2(TTN):c.57847+19del rs111496283
NM_001267550.2(TTN):c.57847+7dup rs111496283
NM_001267550.2(TTN):c.5875T>A (p.Phe1959Ile) rs562856820
NM_001267550.2(TTN):c.5993G>A (p.Arg1998His) rs144135510
NM_001267550.2(TTN):c.72033A>G (p.Pro24011=) rs72646894
NM_001267550.2(TTN):c.8902+14_8902+16delinsA rs786200994
NM_001267550.2(TTN):c.91071T>G (p.Thr30357=) rs11897366
NM_001267550.2(TTN):c.91557T>C (p.Asp30519=) rs202185465
NM_001267550.2(TTN):c.9472-19del rs201990196
NM_001267550.2(TTN):c.97760G>C (p.Arg32587Pro) rs55704830
NM_001276345.2(TNNT2):c.412-6_412-4del rs397516462
NM_001276345.2(TNNT2):c.412-94del rs35559054
NM_001352514.2(HLCS):c.*7_*9del rs201681436
NM_001366110.1(PAX4):c.772-10T>C
NM_001370259.2(MEN1):c.655-6C>T rs77461664
NM_001371904.1(APOA5):c.*12C>T
NM_001371904.1(APOA5):c.-11C>G
NM_001371904.1(APOA5):c.162-8T>G
NM_001371904.1(APOA5):c.696C>G (p.Ser232=) rs146781249
NM_001377304.1(GFI1B):c.-16G>A
NM_001377540.1(SLMAP):c.2311-13del rs3832206
NM_001378454.1(ALMS1):c.10213+12G>A rs527508238
NM_001378454.1(ALMS1):c.12115-8del rs748193431
NM_001378454.1(ALMS1):c.12362+16_12362+17del rs563514664
NM_001378454.1(ALMS1):c.12362+16_12362+18delinsT
NM_001378454.1(ALMS1):c.2416G>C (p.Val806Leu) rs138921247
NM_001378454.1(ALMS1):c.36GGA[15] (p.Glu27_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[17] (p.Glu25_Glu28dup) rs55889738
NM_001378454.1(ALMS1):c.36GGA[9] (p.Glu25_Glu28del) rs55889738
NM_001378454.1(ALMS1):c.36_74= (p.Leu12_Glu25=) rs55889738
NM_001378454.1(ALMS1):c.6302C>T (p.Ser2101Leu) rs28730854
NM_001384140.1(PCDH15):c.1590+20A>G rs7093302
NM_001384140.1(PCDH15):c.3502-14del rs5785023
NM_001384140.1(PCDH15):c.3502-14dup rs5785023
NM_001386795.1(DTNA):c.1532+18T>C rs115712655
NM_001386795.1(DTNA):c.1744-10G>T rs192561043
NM_001386795.1(DTNA):c.231C>T (p.Asn77=) rs147759402
NM_001458.5(FLNC):c.7990+19G>T rs534098005
NM_001458.5(FLNC):c.8118_8121delinsTATC (p.Leu2706_Ile2707=) rs2128940705
NM_001643.2(APOA2):c.53-11_53-4del rs753413807
NM_001643.2(APOA2):c.53-43TG[13] rs17244502
NM_001643.2(APOA2):c.53-43TG[14] rs17244502
NM_001643.2(APOA2):c.53-43TG[15] rs17244502
NM_001643.2(APOA2):c.53-43TG[16] rs17244502
NM_001643.2(APOA2):c.53-43TG[17] rs17244502
NM_001643.2(APOA2):c.53-43TG[18] rs17244502
NM_001643.2(APOA2):c.53-43TG[20] rs17244502
NM_001643.2(APOA2):c.53-43TG[22] rs17244502
NM_001677.4(ATP1B1):c.522G>A (p.Pro174=) rs144685960
NM_001711.6(BGN):c.*18G>A
NM_001711.6(BGN):c.*20G>A
NM_001711.6(BGN):c.1023C>G (p.Pro341=) rs200711767
NM_001715.3(BLK):c.473-7C>T
NM_001743.6(CALM2):c.286-18_286-17del rs112882205
NM_001875.5(CPS1):c.-4_-3insTTC rs61509952
NM_001875.5(CPS1):c.1030A>G (p.Thr344Ala) rs1047883
NM_001875.5(CPS1):c.3141+15del rs577707531
NM_001927.4(DES):c.114G>A (p.Ala38=) rs368901105
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001999.4(FBN2):c.3848-10G>T rs140017238
NM_001999.4(FBN2):c.629-26TCTT[4] rs778383061
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=) rs17608368
NM_002113.3(CFHR1):c.431-2A>G
NM_002230.4(JUP):c.*18C>T rs200222165
NM_002230.4(JUP):c.708-3dup rs782230165
NM_002230.4(JUP):c.909+6C>T rs193922705
NM_002294.3(LAMP2):c.-32GTCGCCGCC[1] rs193922648
NM_002351.5(SH2D1A):c.347-32_347-28del rs200198093
NM_002354.3(EPCAM):c.267G>C (p.Gln89His) rs146480420
NM_002354.3(EPCAM):c.344_345inv (p.Met115Thr)
NM_002382.5(MAX):c.37-15del rs747340873
NM_002382.5(MAX):c.37-15dup rs747340873
NM_002471.4(MYH6):c.1131C>T (p.Asp377=) rs61742472
NM_002471.4(MYH6):c.1581+10_1581+19delinsGGCCTCACG
NM_002471.4(MYH6):c.3343-3del rs1027186100
NM_002471.4(MYH6):c.3979-10C>A rs28730768
NM_002471.4(MYH6):c.3979-10C>G rs28730768
NM_002471.4(MYH6):c.3979-11C>G rs200618133
NM_002471.4(MYH6):c.3979-14C>A rs372226248
NM_002471.4(MYH6):c.3979-3dup rs770492637
NM_002471.4(MYH6):c.3979-7T>C rs535111647
NM_002471.4(MYH6):c.3979-8C>G rs555976716
NM_002471.4(MYH6):c.3979-8_3979-7delinsGC rs727503235
NM_002471.4(MYH6):c.3979-8dup rs193922652
NM_002471.4(MYH6):c.3979-9C>G rs57660219
NM_002471.4(MYH6):c.3979-9_3979-8del rs193922652
NM_002471.4(MYH6):c.4175+18C>A rs200234758
NM_002471.4(MYH6):c.5566-19dup rs756566399
NM_002474.3(MYH11):c.1575+8del rs769321167
NM_002474.3(MYH11):c.348G>A (p.Thr116=) rs781275376
NM_002474.3(MYH11):c.3651+5_3651+11delinsG rs371843272
NM_002474.3(MYH11):c.530+20C>T rs780914854
NM_002495.4(NDUFS4):c.424+19dup rs140172554
NM_002500.5(NEUROD1):c.129C>A (p.Leu43=) rs116321775
NM_002524.5(NRAS):c.112-24dup rs780595451
NM_002524.5(NRAS):c.451-21_451-19del rs754048062
NM_002691.4(POLD1):c.3218+9_3218+10inv
NM_002691.4(POLD1):c.3219-24CCCTGC[3] rs3219456
NM_002691.4(POLD1):c.3219-24CCCTGC[4] rs3219456
NM_002691.4(POLD1):c.324G>A (p.Ala108=) rs20582
NM_002691.4(POLD1):c.324G>T (p.Ala108=) rs20582
NM_002734.5(PRKAR1A):c.-6-4G>A rs190803359
NM_002734.5(PRKAR1A):c.770-9G>T rs562094333
NM_002755.4(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002755.4(MAP2K1):c.291+18A>T rs577549188
NM_002769.4(PRSS1):c.-30_-28delTCC rs386134264
NM_002769.5(PRSS1):c.200+17C>T rs200688125
NM_002769.5(PRSS1):c.200+1G>A rs143909348
NM_002769.5(PRSS1):c.40+40del rs748794481
NM_002769.5(PRSS1):c.41-45del
NM_002769.5(PRSS1):c.454+16A>T rs377570765
NM_002769.5(PRSS1):c.486T>C (p.Asp162=) rs6666
NM_002769.5(PRSS1):c.72C>T (p.Ile24=) rs372637371
NM_002834.5(PTPN11):c.1052G>A (p.Arg351Gln) rs397507534
NM_002834.5(PTPN11):c.1448-15_1448-13del rs775920290
NM_002834.5(PTPN11):c.333-19del rs766492276
NM_002875.5(RAD51):c.531-14C>T
NM_002880.4(RAF1):c.1108+9_1108+21del rs727504451
NM_002880.4(RAF1):c.124_125delinsAT (p.Ala42Ile) rs876657965
NM_002880.4(RAF1):c.1629G>C (p.Thr543=) rs5746244
NM_002880.4(RAF1):c.1668+10_1668+11del rs730880997
NM_002880.4(RAF1):c.1668+19G>T rs5746245
NM_002880.4(RAF1):c.321-14dup rs202103447
NM_003000.3(SDHB):c.424-37TTC[10] rs34261028
NM_003001.3(SDHC):c.20+11_20+12dup rs35215598
NM_003036.4(SKI):c.1311C>T (p.Ala437=) rs140889128
NM_003060.4(SLC22A5):c.-78_-77delinsTA rs71590771
NM_003060.4(SLC22A5):c.652+6= rs4551059
NM_003172.3(SURF1):c.-70_-69del rs967498500
NM_003172.4(SURF1):c.54+13TGCGGGG[5] rs3041852
NM_003238.6(TGFB2):c.933-6del rs11285412
NM_003238.6(TGFB2):c.933-7_933-6del rs11285412
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu) rs35766612
NM_003242.6(TGFBR2):c.464C>T (p.Thr155Ile) rs727504406
NM_003480.4(MFAP5):c.139+15_139+19del rs71042401
NM_003480.4(MFAP5):c.248-18del rs3841565
NM_003647.3(DGKE):c.579A>C (p.Thr193=) rs3760158
NM_003664.5(AP3B1):c.1650+12del rs563512609
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del) rs397516862
NM_003924.4(PHOX2B):c.741_755del (p.Ala256_Ala260del) rs775006915
NM_003924.4(PHOX2B):c.741_758del (p.Ala255_Ala260del) rs771383153
NM_003924.4(PHOX2B):c.756_776del (p.Ala254_Ala260del) rs17879189
NM_003924.4(PHOX2B):c.765_779del (p.Ala256_Ala260del) rs761018157
NM_004004.5(GJB2):c.[79G>A;341A>G]
NM_004006.3(DMD):c.*23_*35del rs752332058
NM_004006.3(DMD):c.1869C>T (p.Leu623=) rs1800267
NM_004006.3(DMD):c.832-18_832-17delinsGA rs2063783358
NM_004006.3(DMD):c.94-9dup rs3834997
NM_004070.4(CLCNKA):c.1339G>A (p.Ala447Thr) rs1805152
NM_004100.5(EYA4):c.580+14_580+16del rs139659489
NM_004100.5(EYA4):c.925A>G (p.Thr309Ala) rs556335059
NM_004281.4(BAG3):c.212G>A (p.Arg71Gln) rs35434411
NM_004281.4(BAG3):c.468GGC[4] (p.Ala160dup) rs139438727
NM_004304.5(ALK):c.3600G>C (p.Ala1200=) rs56247462
NM_004304.5(ALK):c.702T>A (p.Pro234=) rs2246745
NM_004329.3(BMPR1A):c.231-10dup rs747206781
NM_004333.6(BRAF):c.1432+17_1432+19del rs777363183
NM_004333.6(BRAF):c.1992+16G>A rs3789806
NM_004333.6(BRAF):c.1992+16G>C rs3789806
NM_004333.6(BRAF):c.2128-16C>T rs368721021
NM_004333.6(BRAF):c.2128-16_2128-7del rs766844227
NM_004333.6(BRAF):c.2128-16del rs376886058
NM_004333.6(BRAF):c.2128-16delinsTCT rs1796250484
NM_004333.6(BRAF):c.2128-26dup rs370332827
NM_004333.6(BRAF):c.2128-27_2128-18del rs774138098
NM_004333.6(BRAF):c.2128-5del rs373442098
NM_004333.6(BRAF):c.2128-5dup rs373442098
NM_004333.6(BRAF):c.608+19G>C rs200908826
NM_004333.6(BRAF):c.68T>A (p.Met23Lys) rs746778122
NM_004360.5(CDH1):c.1308G>A (p.Leu436=) rs557551011
NM_004415.4(DSP):c.1266+6G>T rs73375345
NM_004415.4(DSP):c.2436+16A>G rs199555263
NM_004415.4(DSP):c.8496ATCTCGCTCCGG[1] (p.2827SGSR[4]) rs397516971
NM_004588.5(SCN2B):c.70+11_70+12insCT rs72544143
NM_004612.4(TGFBR1):c.-91C>T
NM_004612.4(TGFBR1):c.575-9dup rs863223798
NM_004646.4(NPHS1):c.791C>G (p.Pro264Arg) rs34982899
NM_004655.4(AXIN2):c.1235A>G (p.Asn412Ser) rs115931022
NM_004655.4(AXIN2):c.2013_2024del (p.Thr672_Arg675del) rs151279728
NM_004655.4(AXIN2):c.2124G>C (p.Ser708=) rs143243661
NM_004750.5(CRLF1):c.1212+17C>T
NM_005159.5(ACTC1):c.129+18dup rs148433308
NM_005159.5(ACTC1):c.809-58TG[14] rs59431308
NM_005159.5(ACTC1):c.809-58TG[15] rs59431308
NM_005159.5(ACTC1):c.809-58TG[17] rs59431308
NM_005159.5(ACTC1):c.809-58TG[19] rs59431308
NM_005159.5(ACTC1):c.809-58TG[20] rs59431308
NM_005159.5(ACTC1):c.809-58TG[21] rs59431308
NM_005159.5(ACTC1):c.809-58TG[22] rs59431308
NM_005159.5(ACTC1):c.809-58TG[24] rs59431308
NM_005159.5(ACTC1):c.809-58TG[25] rs59431308
NM_005159.5(ACTC1):c.809-58TG[26] rs59431308
NM_005159.5(ACTC1):c.809-58TG[31]
NM_005184.4(CALM3):c.422-24CT[4] rs200365925
NM_005188.4(CBL):c.107ACC[8] (p.His42dup) rs373212940
NM_005188.4(CBL):c.1095+18_1095+19delinsGT rs2135303045
NM_005188.4(CBL):c.1228-10dup rs397517078
NM_005188.4(CBL):c.1228-20_1228-17del rs370327162
NM_005188.4(CBL):c.1365TGA[7] (p.Asp460dup) rs397507494
NM_005188.4(CBL):c.869+44dup rs3842642
NM_005263.5(GFI1):c.925-40CT[13] rs35896485
NM_005343.4(HRAS):c.291-6T>G rs766909143
NM_005502.4(ABCA1):c.303-42_303-5dup rs539194794
NM_005502.4(ABCA1):c.4698+14C>G rs550787183
NM_005502.4(ABCA1):c.4774-17G>A rs202067417
NM_005502.4(ABCA1):c.5383-20_5383-15dup rs77663187
NM_005502.4(ABCA1):c.5383-20_5383-17dup rs77663187
NM_005502.4(ABCA1):c.5383-20_5383-18dup rs77663187
NM_005502.4(ABCA1):c.5383-20_5383-19dup rs77663187
NM_005502.4(ABCA1):c.5383-3del rs77663187
NM_005502.4(ABCA1):c.5406C>T (p.Ile1802=) rs141980942
NM_005585.5(SMAD6):c.120C>A (p.Gly40=) rs149612008
NM_005585.5(SMAD6):c.120C>T (p.Gly40=) rs149612008
NM_005585.5(SMAD6):c.952+13del rs761315842
NM_005591.4(MRE11):c.1090C>A (p.Arg364=) rs371077728
NM_005591.4(MRE11):c.1098+17T>C rs1805365
NM_005591.4(MRE11):c.315-14dup rs35062043
NM_005591.4(MRE11):c.315-4del rs35062043
NM_005591.4(MRE11):c.37T>A (p.Phe13Ile) rs149101834
NM_005633.3(SOS1):c.2511-9dup rs727503436
NM_005633.4(SOS1):c.2167+16del rs79984786
NM_005666.4(CFHR2):c.114A>G (p.Lys38=)
NM_005732.4(RAD50):c.1052-6del rs201800554
NM_005732.4(RAD50):c.1636-9del rs762814289
NM_005732.4(RAD50):c.2923-5dup rs2066742
NM_005732.4(RAD50):c.3476-18TTC[2] rs730881922
NM_005732.4(RAD50):c.756+7del rs377720482
NM_005901.6(SMAD2):c.27G>A (p.Pro9=) rs546743584
NM_005901.6(SMAD2):c.521-16del rs143256118
NM_005901.6(SMAD2):c.730+3dup rs149135973
NM_005901.6(SMAD2):c.785-18dup rs755626653
NM_005901.6(SMAD2):c.999A>G (p.Gly333=)
NM_005908.4(MANBA):c.2102C>T (p.Thr701Met) rs2866413
NM_005908.4(MANBA):c.2416-10del rs5860729
NM_006073.4(TRDN):c.1313T>G (p.Ile438Ser) rs2873479
NM_006073.4(TRDN):c.1369+3dup rs537388823
NM_006073.4(TRDN):c.1598-6dup rs147062785
NM_006231.4(POLE):c.2083T>A (p.Phe695Ile) rs5744799
NM_006231.4(POLE):c.2089C>T (p.Pro697Ser) rs5744800
NM_006231.4(POLE):c.4552-10G>T rs5744946
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg) rs5744971
NM_006231.4(POLE):c.6765C>T (p.Ile2255=) rs376336585
NM_006258.4(PRKG1):c.1076+19_1076+20insTGGCCTT rs146504019
NM_006258.4(PRKG1):c.546G>A (p.Gly182=) rs73336216
NM_006258.4(PRKG1):c.763-15G>T rs1904010
NM_006270.5(RRAS):c.472_473insTT (p.Ser158fs) rs760978291
NM_006270.5(RRAS):c.54A>T (p.Gly18=) rs571103858
NM_006270.5(RRAS):c.563G>A (p.Arg188Gln) rs374621936
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006361.6(HOXB13):c.366C>T (p.Ser122=) rs8556
NM_006393.3(NEBL):c.1008+18C>T rs75903914
NM_006393.3(NEBL):c.1008+4_1008+5inv
NM_006506.5(RASA2):c.12_32dup (p.Ala5_Ala11dup) rs1194909078
NM_006506.5(RASA2):c.1483+7G>A
NM_006506.5(RASA2):c.1549G>T (p.Val517Leu) rs201190266
NM_006506.5(RASA2):c.2124A>T (p.Gln708His) rs61750362
NM_006506.5(RASA2):c.356-15A>C rs772907849
NM_006506.5(RASA2):c.527+15dup rs562128860
NM_006506.5(RASA2):c.657G>A (p.Pro219=) rs34238772
NM_006514.4(SCN10A):c.2850A>G (p.Lys950=) rs7374804
NM_006767.4(LZTR1):c.1620T>C (p.His540=) rs141610191
NM_006767.4(LZTR1):c.1785+13_1785+33dup
NM_006767.4(LZTR1):c.1992G>A (p.Ala664=)
NM_006767.4(LZTR1):c.2103C>G (p.Pro701=) rs139080986
NM_006767.4(LZTR1):c.2103C>T (p.Pro701=) rs139080986
NM_006767.4(LZTR1):c.263+7_263+10del rs765081424
NM_006767.4(LZTR1):c.320+13G>A rs188924002
NM_006767.4(LZTR1):c.321-14_321-3del rs137977968
NM_006767.4(LZTR1):c.651+10_651+46del rs541944601
NM_006767.4(LZTR1):c.918G>A (p.Thr306=) rs367738742
NM_006904.7(PRKDC):c.325-19dup rs567466258
NM_006939.4(SOS2):c.1263T>C (p.Asn421=) rs369267864
NM_006939.4(SOS2):c.1609G>T (p.Ala537Ser) rs748632850
NM_006939.4(SOS2):c.1935-20C>G rs376985307
NM_006939.4(SOS2):c.2057+19_2057+20del rs111970905
NM_006939.4(SOS2):c.2217G>A (p.Lys739=) rs186110427
NM_006939.4(SOS2):c.2786-18dup rs201957103
NM_006939.4(SOS2):c.2786-6del rs201957103
NM_006939.4(SOS2):c.3490-13_3490-12dup rs10658395
NM_006939.4(SOS2):c.3490-13dup rs10658395
NM_006939.4(SOS2):c.3490-4del rs10658395
NM_006939.4(SOS2):c.3540TCC[4] (p.Pro1183dup) rs765097073
NM_006939.4(SOS2):c.3755_3757del (p.Ile1252del) rs775506222
NM_006939.4(SOS2):c.3813G>A (p.Pro1271=) rs2227276
NM_006939.4(SOS2):c.399A>C (p.Val133=) rs144584870
NM_006939.4(SOS2):c.622G>A (p.Ala208Thr) rs61755579
NM_006949.4(STXBP2):c.1027-17CACCCTG[3] rs776600326
NM_007078.3(LDB3):c.-16C>T
NM_007078.3(LDB3):c.1041C>A (p.Ser347=) rs45555240
NM_007078.3(LDB3):c.1232-12dup rs752301693
NM_007078.3(LDB3):c.1296_1343del (p.Ala434_Pro449del) rs397517209
NM_007078.3(LDB3):c.465C>T (p.Leu155=) rs45516997
NM_007078.3(LDB3):c.576G>A (p.Pro192=) rs45543741
NM_007078.3(LDB3):c.576G>T (p.Pro192=) rs45543741
NM_007194.4(CHEK2):c.907T>C (p.Leu303=) rs752359705
NM_007294.4(BRCA1):c.1106_1108del (p.Asp369del) rs80358325
NM_007294.4(BRCA1):c.135-23CTTT[2] rs878854931
NM_007294.4(BRCA1):c.2232T>C (p.Ala744=) rs4986846
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.305C>G (p.Ala102Gly) rs80357190
NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His) rs56214134
NM_007294.4(BRCA1):c.4186-10G>A rs80358172
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_007294.4(BRCA1):c.441+17T>C rs368415464
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.4(BRCA1):c.5198A>G (p.Asp1733Gly) rs80357270
NM_007294.4(BRCA1):c.547+14del rs273902771
NM_007294.4(BRCA1):c.5572A>C (p.Ile1858Leu) rs765656957
NM_007294.4(BRCA1):c.671-12del rs273902781
NM_007294.4(BRCA1):c.81-13C>A rs56328013
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser) rs8176153
NM_007373.4(SHOC2):c.1541-7del rs371544139
NM_007373.4(SHOC2):c.1541-7dup rs371544139
NM_007373.4(SHOC2):c.704-19del rs768697153
NM_007373.4(SHOC2):c.973-5del rs730881016
NM_012281.3(KCND2):c.468C>G (p.Thr156=) rs149119940
NM_012452.3(TNFRSF13B):c.*86_*88del rs150068036
NM_012452.3(TNFRSF13B):c.61+11G>C rs201483236
NM_013246.3(CLCF1):c.660_666del (p.Gly221fs) rs140997186
NM_013975.4(LIG3):c.1990-17_1990-14del rs147265750
NM_013975.4(LIG3):c.2133C>T (p.Phe711=)
NM_013975.4(LIG3):c.2712G>C (p.Val904=) rs372207276
NM_014000.3(VCL):c.622+4C>T rs201020802
NM_014026.6(DCPS):c.574G>C (p.Glu192Gln) rs139170738
NM_014244.5(ADAMTS2):c.47TGC[9] (p.Leu23dup) rs568040559
NM_014244.5(ADAMTS2):c.722G>A (p.Arg241His) rs11750821
NM_014244.5(ADAMTS2):c.80_100dup (p.Leu27_Pro33dup) rs1064794627
NM_014244.5(ADAMTS2):c.80_88dup (p.Leu27_Pro29dup) rs775509290
NM_014391.3(ANKRD1):c.345+17del rs746808032
NM_014391.3(ANKRD1):c.345+17dup rs746808032
NM_014391.3(ANKRD1):c.346-15_346-14del rs794728971
NM_014391.3(ANKRD1):c.346-19_346-14del rs58762441
NM_014391.3(ANKRD1):c.346-31_346-12del rs750974250
NM_014391.3(ANKRD1):c.346-43AT[11] rs60406118
NM_014391.3(ANKRD1):c.346-43AT[13] rs60406118
NM_014391.3(ANKRD1):c.346-43AT[15] rs60406118
NM_014391.3(ANKRD1):c.652-13del rs3839929
NM_014697.3(NOS1AP):c.1350C>T (p.Gly450=)
NM_014697.3(NOS1AP):c.596-5T>G
NM_014704.4(CEP104):c.1083G>A (p.Pro361=) rs61740614
NM_015120.4(ALMS1):c.1577_1579dup (p.Pro526_Leu527insPro) rs34628045
NM_015506.3(MMACHC):c.848G>T (p.Ter283Leu) rs201025783
NM_015627.3(LDLRAP1):c.653_654inv (p.Thr218Met)
NM_016203.4(PRKAG2):c.1679-19A>T rs200262620
NM_016203.4(PRKAG2):c.471C>T (p.Ser157=) rs141804012
NM_016599.5(MYOZ2):c.-3dup rs397517288
NM_017415.3(KLHL3):c.903+16A>G
NM_017617.5(NOTCH1):c.1441+11C>T rs376506127
NM_017617.5(NOTCH1):c.2496G>T (p.Pro832=) rs61751551
NM_017617.5(NOTCH1):c.5019-13_5019-10del rs374419074
NM_017617.5(NOTCH1):c.6396G>C (p.Thr2132=) rs554843595
NM_017617.5(NOTCH1):c.750C>A (p.Thr250=) rs375772590
NM_017617.5(NOTCH1):c.750C>T (p.Thr250=) rs375772590
NM_017633.3(TENT5A):c.72CGGCGACTTCGGCGG[7] (p.26DFGGG[7]) rs754008809
NM_017636.4(TRPM4):c.1459_1494del (p.Lys487_Leu498del) rs878855029
NM_017668.3(NDE1):c.*388del rs543763112
NM_017668.3(NDE1):c.948-4460_948-4457del rs766943222
NM_017780.4(CHD7):c.2614-14del rs748282026
NM_017780.4(CHD7):c.8477A>G (p.Asn2826Ser) rs370129047
NM_018062.4(FANCL):c.822-15dup rs570217357
NM_018297.4(NGLY1):c.1790-12del rs531889481
NM_019109.5(ALG1):c.208+16_208+19dup rs35400794
NM_019109.5(ALG1):c.390+13C>T rs62036244
NM_020297.4(ABCC9):c.1165-6del rs35857705
NM_020297.4(ABCC9):c.2238-17del rs4148670
NM_020297.4(ABCC9):c.2644-11G>A rs61926078
NM_020297.4(ABCC9):c.4450-5del rs4148680
NM_020297.4(ABCC9):c.817-14_817-4del rs774857795
NM_020297.4(ABCC9):c.817-18del rs199947733
NM_020297.4(ABCC9):c.817-18dup rs199947733
NM_020297.4(ABCC9):c.817-7del rs193922684
NM_020433.5(JPH2):c.624C>G (p.Ala208=) rs398124358
NM_020631.6(PLEKHG5):c.2145GGA[7] (p.Glu723del) rs113541584
NM_020631.6(PLEKHG5):c.2160_2163delinsA (p.Glu723del) rs386628081
NM_020778.5(ALPK3):c.305-18C>A rs1896864
NM_020806.5(GPHN):c.127G>T (p.Val43Leu) rs117256383
NM_020975.6(RET):c.960C>T (p.Pro320=) rs756761746
NM_021939.4(FKBP10):c.246-5C>G rs140027863
NM_022114.4(PRDM16):c.-14C>A rs180925565
NM_022114.4(PRDM16):c.2448C>T (p.Asn816=) rs372189819
NM_022437.3(ABCG8):c.1412-8delinsTT
NM_022437.3(ABCG8):c.1412-9_1412-8insT rs138296512
NM_022437.3(ABCG8):c.1895T>C (p.Val632Ala) rs6544718
NM_024312.5(GNPTAB):c.1931_1932inv (p.Thr644Met)
NM_024312.5(GNPTAB):c.27G>A (p.Gln9=) rs222504
NM_024334.3(TMEM43):c.163-3del rs371706980
NM_024334.3(TMEM43):c.512+19G>T rs114026215
NM_024422.6(DSC2):c.1350A>G (p.Arg450=) rs144242114
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del) rs377272752
NM_024422.6(DSC2):c.2393G>A (p.Arg798Gln) rs61731921
NM_024422.6(DSC2):c.370C>T (p.His124Tyr) rs371443698
NM_024422.6(DSC2):c.70-11del rs572309510
NM_024422.6(DSC2):c.70-20G>A rs374486794
NM_024529.5(CDC73):c.-4dup rs545666726
NM_024529.5(CDC73):c.1418-17C>G rs11583414
NM_024529.5(CDC73):c.1560-4dup rs761016442
NM_024570.4(RNASEH2B):c.925dup (p.Ile309fs) rs75254367
NM_024675.4(PALB2):c.1881G>T (p.Val627=) rs139362268
NM_024675.4(PALB2):c.2607C>T (p.Ser869=) rs45542234
NM_024675.4(PALB2):c.2996+9del rs769414858
NM_024675.4(PALB2):c.3141A>G (p.Lys1047=) rs2142299817
NM_025000.4(DCAF17):c.322-14_322-11del rs753818890
NM_025099.6(CTC1):c.248G>C (p.Ser83Thr) rs78870822
NM_030662.4(MAP2K2):c.225C>T (p.Ile75=) rs561400866
NM_030662.4(MAP2K2):c.303+15G>T rs373530124
NM_030662.4(MAP2K2):c.705+11G>A rs202086678
NM_030662.4(MAP2K2):c.705+11G>C rs202086678
NM_031885.5(BBS2):c.266A>G (p.Tyr89Cys) rs560910758
NM_032043.3(BRIP1):c.2400C>T (p.Tyr800=) rs574552037
NM_032122.5(DTNBP1):c.811+70G>A
NM_032578.4(MYPN):c.2409C>G (p.Ser803Arg) rs3814182
NM_032578.4(MYPN):c.3075+5_3075+13del rs864622652
NM_032578.4(MYPN):c.3493+15_3493+20del rs11279655
NM_032790.4(ORAI1):c.132_137delACCGCC (p.Pro46_Pro47del)
NM_033056.4(PCDH15):c.5598AAC[1] (p.Thr1869del) rs113363047
NM_033305.3(VPS13A):c.385+6_385+15del rs72275336
NM_033337.3(CAV3):c.399C>T (p.Phe133=) rs769859957
NM_033380.3(COL4A5):c.1033-15del rs104886089
NM_052845.4(MMAB):c.56_57delinsAA (p.Arg19Gln) rs36013132
NM_053025.4(MYLK):c.1005_1007delinsTCT (p.Pro336Leu)
NM_053025.4(MYLK):c.4289-10dup rs41431347
NM_053025.4(MYLK):c.4289-9C>G rs41443051
NM_053025.4(MYLK):c.588+13_588+16del rs570821069
NM_053025.4(MYLK):c.999G>T (p.Pro333=) rs13319347
NM_058172.6(ANTXR2):c.1069G>C (p.Ala357Pro) rs12647691
NM_133259.4(LRPPRC):c.2629+18A>G rs572783698
NM_138694.4(PKHD1):c.11525G>T (p.Arg3842Leu) rs76572975
NM_138694.4(PKHD1):c.449-15TTC[2] rs545812620
NM_138694.4(PKHD1):c.5199C>A (p.Thr1733=) rs148790132
NM_138694.4(PKHD1):c.6333-8_6333-7del rs138161138
NM_138694.4(PKHD1):c.733C>T (p.Leu245=) rs111809699
NM_138694.4(PKHD1):c.7734-27dup rs201176305
NM_139076.3(ABRAXAS1):c.594C>T (p.His198=) rs144724610
NM_139076.3(ABRAXAS1):c.7G>C (p.Gly3Arg) rs370520589
NM_139276.3(STAT3):c.*123dup
NM_139276.3(STAT3):c.1365+143_1365+146del rs143987966
NM_139276.3(STAT3):c.1365+146dup rs143987966
NM_144670.6(A2ML1):c.1476+8C>G rs75676135
NM_144670.6(A2ML1):c.1476+8C>T rs75676135
NM_144670.6(A2ML1):c.2145del (p.Phe715fs) rs759217676
NM_144670.6(A2ML1):c.2719_2720del (p.Gly907fs) rs560609581
NM_144670.6(A2ML1):c.289C>G (p.Arg97Gly) rs199701571
NM_144670.6(A2ML1):c.3124A>G (p.Thr1042Ala) rs565930773
NM_144670.6(A2ML1):c.3381G>A (p.Ser1127=)
NM_144670.6(A2ML1):c.462+19A>G
NM_144670.6(A2ML1):c.462+9GGA[2] rs750639846
NM_144670.6(A2ML1):c.619G>C (p.Gly207Arg) rs11047499
NM_144670.6(A2ML1):c.861C>A (p.Asp287Glu) rs61921916
NM_145046.5(CALR3):c.1067G>T (p.Arg356Leu) rs140290452
NM_145046.5(CALR3):c.493-6A>G rs566199743
NM_152419.3(HGSNAT):c.204C>T (p.Thr68=) rs199816365
NM_152564.5(VPS13B):c.6455-4dup rs398124337
NM_152564.5(VPS13B):c.9331-2_9331-1del rs764288792
NM_152906.7(TANGO2):c.56+122_56+131del rs545147497
NM_170707.4(LMNA):c.1551G>A (p.Gln517=) rs41314035
NM_174934.4(SCN4B):c.282G>A (p.Thr94=)
NM_174936.4(PCSK9):c.1503+20GT[25] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[27] rs35115360
NM_174936.4(PCSK9):c.1503+20GT[28] rs35115360
NM_174936.4(PCSK9):c.1504-5_1504-4del rs755817854
NM_174936.4(PCSK9):c.158C>T (p.Ala53Val)
NM_174936.4(PCSK9):c.1658A>G (p.His553Arg)
NM_174936.4(PCSK9):c.1856A>C (p.Gln619Pro)
NM_174936.4(PCSK9):c.1959G>A (p.Thr653=) rs139894975
NM_174936.4(PCSK9):c.2009G>A (p.Gly670Glu)
NM_174936.4(PCSK9):c.45GCT[6] (p.Leu23del)
NM_174936.4(PCSK9):c.45GCT[9] (p.Leu22_Leu23dup) rs35574083
NM_174936.4(PCSK9):c.566_567dup (p.Gln190fs) rs755197912
NM_175914.5(HNF4A):c.224+17dup rs371937621
NM_182760.4(SUMF1):c.*10_*11delinsGT rs71623163
NM_199037.3(SCN1B):c.749G>C (p.Arg250Thr) rs67486287
NM_201596.3(CACNB2):c.1206+4_1206+7dup rs1456201116
NM_201596.3(CACNB2):c.622T>C (p.Leu208=) rs538160664
NM_206933.4(USH2A):c.15428G>A (p.Arg5143His) rs111033435
NM_213569.2(NEBL):c.357+73449dup rs57918610
NM_213569.2(NEBL):c.357+73457del rs57918610
NR_003051.3(RMRP):n.-20C>G rs183974004
NR_003051.4(RMRP):n.54dup rs151011853
STAT3:c.469-34_469-30del rs140846959

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