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
|
|