ClinVar Miner

List of variants reported as likely benign for multiple congenital anomalies/dysmorphic syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (856):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2006
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HGVS dbSNP gnomAD frequency
NM_004525.3(LRP2):c.79+15A>G rs1559013 0.98894
NM_000208.4(INSR):c.783C>T (p.Asp261=) rs891087 0.11869
NM_000168.6(GLI3):c.-42-11G>C rs80019165 0.03314
NM_016030.6(TRAPPC12):c.1417+16T>C rs112370205 0.02827
NM_000503.6(EYA1):c.1597+18T>C rs76259565 0.02609
NM_030957.4(ADAMTS10):c.1588-7C>G rs11882422 0.02550
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) rs45516100 0.02529
NM_001378964.1(CDON):c.1851+14G>A rs113328989 0.02329
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_000540.3(RYR1):c.13503G>A (p.Pro4501=) rs2960319 0.01964
NM_017780.4(CHD7):c.2124T>C (p.Ser708=) rs79302359 0.01911
NM_174916.3(UBR1):c.2695A>G (p.Ile899Val) rs35069201 0.01889
NM_001291303.3(FAT4):c.14361C>T (p.Val4787=) rs1014865 0.01862
NM_004380.3(CREBBP):c.7212A>G (p.Glu2404=) rs55916120 0.01802
NM_001109878.2(TBX22):c.949+12T>G rs151121450 0.01780
NM_014141.6(CNTNAP2):c.318C>T (p.Ser106=) rs61732853 0.01773
NM_000142.5(FGFR3):c.348C>T (p.Arg116=) rs2305179 0.01752
NM_000208.4(INSR):c.653-7del rs766817873 0.01724
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) rs45551636 0.01717
NM_001429.4(EP300):c.2499G>A (p.Ser833=) rs35560602 0.01700
NM_001378183.1(PIEZO2):c.6012C>T (p.Asp2004=) rs16975235 0.01635
NM_007055.4(POLR3A):c.1724A>T (p.Lys575Met) rs56214655 0.01630
NM_001291303.3(FAT4):c.8592G>A (p.Val2864=) rs111758803 0.01583
NM_000264.5(PTCH1):c.318C>T (p.Leu106=) rs1805153 0.01567
NM_178012.5(TUBB2B):c.553G>A (p.Ala185Thr) rs146544321 0.01565
NM_018026.4(PACS1):c.957C>G (p.Thr319=) rs76179533 0.01539
NM_001291303.3(FAT4):c.1101A>G (p.Val367=) rs57692448 0.01498
NM_020297.4(ABCC9):c.1848C>T (p.Asp616=) rs61001398 0.01493
NM_015338.6(ASXL1):c.374-9C>T rs6087903 0.01488
NM_025074.7(FRAS1):c.1534+19A>G rs6829493 0.01482
NM_000136.3(FANCC):c.843+4C>T rs4647506 0.01468
NM_001378183.1(PIEZO2):c.3941C>T (p.Ser1314Phe) rs9959296 0.01461
NM_016343.4(CENPF):c.9081C>T (p.Leu3027=) rs74557452 0.01439
NM_000138.5(FBN1):c.3082+6A>G rs79321504 0.01406
NM_014846.4(WASHC5):c.3225A>G (p.Pro1075=) rs34569226 0.01390
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435 0.01358
NM_139125.4(MASP1):c.1386G>A (p.Pro462=) rs35384947 0.01342
NM_001166114.2(PNPLA6):c.181G>C (p.Val61Leu) rs112732576 0.01318
NM_030665.4(RAI1):c.1894C>T (p.Leu632=) rs61736754 0.01318
NM_005996.4(TBX3):c.2082A>G (p.Lys694=) rs34831817 0.01295
NM_003072.5(SMARCA4):c.1419+8C>T rs115492175 0.01292
NM_001031689.3(PLAA):c.957C>T (p.His319=) rs112768524 0.01286
NM_025074.7(FRAS1):c.10230C>T (p.Tyr3410=) rs34034599 0.01250
NM_000540.3(RYR1):c.12012+19T>C rs181590606 0.01243
NM_001379081.2(FREM1):c.3472-20T>C rs77508679 0.01216
NM_005360.5(MAF):c.696C>A (p.Gly232=) rs868331592 0.01160
NM_153717.3(EVC):c.2363G>A (p.Arg788His) rs73795088 0.01159
NM_003922.4(HERC1):c.11332-15T>C rs78341289 0.01147
NM_032040.5(CCDC8):c.1045G>C (p.Ala349Pro) rs28498765 0.01123
NM_025074.7(FRAS1):c.1416C>T (p.Cys472=) rs35690113 0.01114
NM_025074.7(FRAS1):c.3951G>A (p.Leu1317=) rs76107832 0.01090
NM_001122681.2(SH3BP2):c.801C>T (p.Cys267=) rs114926004 0.01089
NM_004380.3(CREBBP):c.3128C>T (p.Ser1043Leu) rs61731376 0.01088
NM_018958.3(NPAP1):c.663G>A (p.Met221Ile) rs35667483 0.01078
NM_170606.3(KMT2C):c.4508-12A>T rs28418446 0.01078
NM_004187.5(KDM5C):c.564G>A (p.Lys188=) rs61751437 0.01076
NM_173660.5(DOK7):c.782G>A (p.Arg261His) rs16844460 0.01070
NM_007363.5(NONO):c.154+11G>C rs142366840 0.01069
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_004525.3(LRP2):c.5293G>A (p.Val1765Met) rs116456291 0.01031
NM_001012614.2(CTBP1):c.486C>T (p.Arg162=) rs1045458 0.01026
NM_005236.3(ERCC4):c.2655G>A (p.Thr885=) rs16963255 0.01026
NM_004525.3(LRP2):c.9033-8T>C rs140148483 0.01021
NM_014423.4(AFF4):c.2892A>G (p.Lys964=) rs34434281 0.01004
NM_003483.6(HMGA2):c.199-8A>G rs55674630 0.01002
NM_003036.4(SKI):c.456C>T (p.Arg152=) rs149898447 0.00976
NM_001330078.2(NRXN1):c.3365-110075G>A rs189873392 0.00970
NM_015443.4(KANSL1):c.2109A>G (p.Leu703=) rs34101027 0.00967
NM_001330078.2(NRXN1):c.4217-16A>C rs74520052 0.00964
NM_002485.5(NBN):c.797C>T (p.Pro266Leu) rs769420 0.00955
NM_004525.3(LRP2):c.11346C>T (p.Asn3782=) rs7598640 0.00939
NM_025074.7(FRAS1):c.4940C>T (p.Thr1647Ile) rs34271211 0.00909
NM_014822.4(SEC24D):c.1576C>T (p.Leu526Phe) rs141180741 0.00908
NM_207361.6(FREM2):c.6036C>T (p.Phe2012=) rs115455037 0.00893
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=) rs55980657 0.00869
NM_000168.6(GLI3):c.1029-11C>T rs116195563 0.00867
NM_006662.3(SRCAP):c.3699G>A (p.Pro1233=) rs34734612 0.00864
NM_000168.6(GLI3):c.368-19G>A rs79879393 0.00858
NM_024757.5(EHMT1):c.526C>T (p.Pro176Ser) rs34704821 0.00856
NM_003620.4(PPM1D):c.1149A>C (p.Gly383=) rs111239559 0.00849
NM_005573.4(LMNB1):c.360-19C>T rs74640805 0.00844
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp) rs72563785 0.00830
NM_001904.4(CTNNB1):c.14-4A>G rs5743391 0.00827
NM_207361.6(FREM2):c.3753C>T (p.Ser1251=) rs78099370 0.00823
NM_001197104.2(KMT2A):c.10209G>A (p.Pro3403=) rs9332843 0.00817
NM_052867.4(NALCN):c.2859C>T (p.Phe953=) rs34033086 0.00816
NM_007118.4(TRIO):c.7457_7468del (p.Trp2486_Pro2490delinsSer) rs140308852 0.00802
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_001197104.2(KMT2A):c.7689A>G (p.Ser2563=) rs9332840 0.00784
NM_207361.6(FREM2):c.1518C>T (p.Ser506=) rs141821695 0.00784
NM_025074.7(FRAS1):c.1710C>T (p.Pro570=) rs17003124 0.00783
NM_022463.5(NXN):c.1000+13C>T rs188195924 0.00781
NM_005592.4(MUSK):c.1991A>G (p.Asn664Ser) rs55963442 0.00777
NM_001018115.3(FANCD2):c.3105+15C>T rs460965 0.00770
NM_014991.6(WDFY3):c.9094A>G (p.Ile3032Val) rs17368018 0.00766
NM_004044.7(ATIC):c.1499G>A (p.Gly500Asp) rs76414987 0.00763
NM_006766.5(KAT6A):c.4324G>A (p.Ala1442Thr) rs113195648 0.00745
NM_022463.5(NXN):c.543C>T (p.Asn181=) rs113173467 0.00737
NM_004525.3(LRP2):c.10403C>T (p.Pro3468Leu) rs143367996 0.00734
NM_024408.4(NOTCH2):c.4311C>T (p.Gly1437=) rs34561092 0.00733
NM_001083603.1(PTCH1):c.131A>G (p.Glu44Gly) rs202111971 0.00732
NM_001374828.1(ARID1B):c.5576A>C (p.Glu1859Ala) rs149518409 0.00727
NM_001365999.1(SZT2):c.2631C>T (p.Thr877=) rs140831372 0.00717
NM_001145358.2(SIN3A):c.3466A>T (p.Met1156Leu) rs60213317 0.00716
NM_002485.5(NBN):c.1489A>G (p.Thr497Ala) rs3026268 0.00711
NM_006939.4(SOS2):c.3489+19C>T rs149825446 0.00700
NM_018027.5(FRMD4A):c.705G>A (p.Leu235=) rs61755072 0.00698
NM_000540.3(RYR1):c.6498C>T (p.Leu2166=) rs151313865 0.00691
NM_015559.3(SETBP1):c.3618T>C (p.His1206=) rs34882016 0.00689
NM_001197104.2(KMT2A):c.4218+20A>G rs9332798 0.00681
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836 0.00678
NM_000264.5(PTCH1):c.1119C>T (p.Tyr373=) rs2066831 0.00677
NM_000264.5(PTCH1):c.1074T>C (p.His358=) rs2066832 0.00674
NM_001372066.1(TFAP2A):c.826T>C (p.Leu276=) rs35008125 0.00674
NM_004629.2(FANCG):c.988C>T (p.Pro330Ser) rs4986940 0.00670
NM_015634.4(KIFBP):c.68A>G (p.Glu23Gly) rs148768851 0.00669
NM_002894.3(RBBP8):c.736C>G (p.Pro246Ala) rs34372414 0.00661
NM_004153.4(ORC1):c.806C>T (p.Ser269Leu) rs61753390 0.00653
NM_004044.7(ATIC):c.1494C>G (p.Thr498=) rs116255553 0.00651
NM_001145358.2(SIN3A):c.1428T>C (p.Ser476=) rs58376508 0.00645
NM_030632.3(ASXL3):c.3324T>G (p.Ala1108=) rs77617474 0.00638
NM_002968.3(SALL1):c.3222G>A (p.Ala1074=) rs61731131 0.00636
NM_175875.5(SIX5):c.375G>C (p.Pro125=) rs147268086 0.00636
NM_015559.3(SETBP1):c.1491G>A (p.Pro497=) rs113053616 0.00634
NM_030665.4(RAI1):c.1044C>T (p.Arg348=) rs142316059 0.00634
NM_024665.7(TBL1XR1):c.669A>G (p.Pro223=) rs61750378 0.00631
NM_207361.6(FREM2):c.5264-19T>G rs112155555 0.00631
NM_014243.3(ADAMTS3):c.661+7G>A rs72852050 0.00624
NM_170606.3(KMT2C):c.162-17T>A rs187902675 0.00620
NM_000214.3(JAG1):c.2459-17A>C rs35891274 0.00618
NM_032444.4(SLX4):c.90C>T (p.Ser30=) rs118089506 0.00612
NM_030957.4(ADAMTS10):c.2403+4A>G rs187565033 0.00608
NM_000540.3(RYR1):c.13502C>T (p.Pro4501Leu) rs73933023 0.00601
NM_007055.4(POLR3A):c.2938A>G (p.Ile980Val) rs146253630 0.00599
NM_001365999.1(SZT2):c.4701G>A (p.Leu1567=) rs111932993 0.00598
NM_004560.4(ROR2):c.717C>T (p.Cys239=) rs56302651 0.00597
NM_025074.7(FRAS1):c.9806G>A (p.Arg3269Gln) rs61729366 0.00592
NM_017780.4(CHD7):c.309G>A (p.Ser103=) rs115293759 0.00586
NM_003072.5(SMARCA4):c.2002-19T>C rs111899994 0.00578
NM_003036.4(SKI):c.1446G>A (p.Ala482=) rs114345135 0.00570
NM_007373.4(SHOC2):c.1423-7C>T rs180671383 0.00563
NM_005862.3(STAG1):c.1402C>T (p.Leu468=) rs34807246 0.00562
NM_004525.3(LRP2):c.11092G>A (p.Val3698Met) rs34355135 0.00560
NM_030665.4(RAI1):c.4512G>T (p.Leu1504=) rs117995220 0.00559
NM_003922.4(HERC1):c.1988C>G (p.Ala663Gly) rs137926425 0.00552
NM_024757.5(EHMT1):c.1249-9G>T rs73669157 0.00552
NM_004044.7(ATIC):c.1670C>T (p.Ala557Val) rs76436141 0.00548
NM_015100.4(POGZ):c.357A>G (p.Thr119=) rs145173739 0.00547
NM_003072.5(SMARCA4):c.1419+7T>C rs112977340 0.00546
NM_004044.7(ATIC):c.380-18G>A rs190975135 0.00546
NM_002465.4(MYBPC1):c.608+14A>G rs4448745 0.00545
NM_002465.4(MYBPC1):c.594T>C (p.Ser198=) rs79442861 0.00543
NM_005360.5(MAF):c.453C>A (p.Gly151=) rs529173060 0.00540
NM_004247.4(EFTUD2):c.1058+3_1058+7del rs536749831 0.00538
NM_030632.3(ASXL3):c.1995A>G (p.Arg665=) rs143855418 0.00536
NM_001282531.3(ADNP):c.2475G>T (p.Gly825=) rs148502910 0.00534
NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys) rs149814240 0.00533
NM_002470.4(MYH3):c.1575C>T (p.Ile525=) rs34695778 0.00528
NM_207361.6(FREM2):c.2600C>T (p.Thr867Ile) rs61995710 0.00520
NM_058216.3(RAD51C):c.572-17G>T rs193023469 0.00513
NM_052867.4(NALCN):c.2241C>T (p.Pro747=) rs79264337 0.00512
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_000193.4(SHH):c.300+17G>A rs116412905 0.00504
NM_000522.5(HOXA13):c.480G>A (p.Ala160=) rs537218194 0.00504
NM_004153.4(ORC1):c.2314G>A (p.Val772Ile) rs61753389 0.00503
NM_022916.6(VPS33A):c.282T>C (p.Ala94=) rs76521771 0.00502
NM_005445.4(SMC3):c.2007T>C (p.Tyr669=) rs147404470 0.00501
NM_000052.7(ATP7A):c.4201G>C (p.Val1401Leu) rs5959130 0.00500
NM_018161.5(NADSYN1):c.1138G>A (p.Val380Met) rs147585323 0.00500
NM_001113378.2(FANCI):c.1699-7C>A rs28446881 0.00498
NM_030665.4(RAI1):c.2907C>T (p.Asp969=) rs141757356 0.00492
NM_014846.4(WASHC5):c.867A>C (p.Val289=) rs79464415 0.00491
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_006306.4(SMC1A):c.699G>A (p.Val233=) rs145319852 0.00488
NM_003620.4(PPM1D):c.456C>T (p.Ala152=) rs149400522 0.00475
NM_000540.3(RYR1):c.12881C>T (p.Thr4294Met) rs587784372 0.00471
NM_001360.3(DHCR7):c.549C>T (p.Cys183=) rs115446684 0.00470
NM_006015.6(ARID1A):c.6586C>T (p.Leu2196=) rs149633292 0.00468
NM_004525.3(LRP2):c.3659C>T (p.Ala1220Val) rs144723964 0.00467
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys) rs115321485 0.00466
NM_003072.5(SMARCA4):c.4272G>A (p.Pro1424=) rs114882905 0.00462
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204 0.00460
NM_004958.4(MTOR):c.2649+9C>T rs144243347 0.00459
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_022455.5(NSD1):c.1690G>T (p.Ala564Ser) rs116520623 0.00445
NM_015922.3(NSDHL):c.1054C>T (p.Leu352=) rs142351862 0.00444
NM_004525.3(LRP2):c.7917A>C (p.Gly2639=) rs144126440 0.00441
NM_013275.6(ANKRD11):c.744+18C>G rs147328392 0.00441
NM_019066.5(MAGEL2):c.3017C>G (p.Thr1006Ser) rs138628273 0.00437
NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689 0.00433
NM_000135.4(FANCA):c.903G>T (p.Val301=) rs56062548 0.00432
NM_006306.4(SMC1A):c.298+19A>G rs113817745 0.00432
NM_018958.3(NPAP1):c.3046G>T (p.Asp1016Tyr) rs74942536 0.00430
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) rs143044921 0.00430
NM_021922.3(FANCE):c.1572G>A (p.Arg524=) rs115195341 0.00429
NM_004044.7(ATIC):c.5C>T (p.Ala2Val) rs138988481 0.00428
NM_015937.6(PIGT):c.969C>T (p.Thr323=) rs116312756 0.00428
NM_006766.5(KAT6A):c.1599-9C>T rs74337152 0.00424
NM_012330.4(KAT6B):c.4407G>A (p.Ser1469=) rs114126792 0.00421
NM_178012.5(TUBB2B):c.609C>T (p.Asp203=) rs1054332 0.00411
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710 0.00410
NM_207361.6(FREM2):c.7068C>T (p.Ala2356=) rs74577582 0.00410
NM_003072.5(SMARCA4):c.3547-11T>C rs190104006 0.00408
NM_005633.4(SOS1):c.345+15C>T rs75937422 0.00407
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala) rs150918383 0.00405
NM_000540.3(RYR1):c.1923C>G (p.Thr641=) rs116591968 0.00404
NM_003482.4(KMT2D):c.6076A>G (p.Ile2026Val) rs190995850 0.00402
NM_001113378.2(FANCI):c.1211T>C (p.Ile404Thr) rs79080874 0.00400
NM_030665.4(RAI1):c.1142C>T (p.Ala381Val) rs113208290 0.00400
NM_012431.3(SEMA3E):c.2102G>T (p.Ser701Ile) rs142204796 0.00396
NM_001270.4(CHD1):c.1371A>G (p.Leu457=) rs116648225 0.00391
NM_001378183.1(PIEZO2):c.3757+13A>G rs73389079 0.00391
NM_001904.4(CTNNB1):c.2320C>T (p.Leu774=) rs4135386 0.00390
NM_001113378.2(FANCI):c.2832A>C (p.Arg944Ser) rs79685648 0.00388
NM_003072.5(SMARCA4):c.1119-12C>T rs113870824 0.00387
NM_003072.5(SMARCA4):c.2001+8T>G rs112549813 0.00384
NM_004525.3(LRP2):c.13620+14C>G rs142018904 0.00384
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr) rs77357563 0.00382
NM_001854.4(COL11A1):c.130G>A (p.Ala44Thr) rs150090939 0.00381
NM_004134.7(HSPA9):c.21T>G (p.Ala7=) rs36043650 0.00380
NM_133433.4(NIPBL):c.1965G>T (p.Glu655Asp) rs80358350 0.00379
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile) rs116099212 0.00379
NM_015335.5(MED13L):c.3512A>G (p.Lys1171Arg) rs147863200 0.00377
NM_000381.4(MID1):c.498G>A (p.Pro166=) rs7391874 0.00376
NM_025074.7(FRAS1):c.10160T>C (p.Leu3387Pro) rs137982616 0.00365
NM_133433.4(NIPBL):c.535G>A (p.Ala179Thr) rs142923613 0.00365
NM_005857.5(ZMPSTE24):c.954+3G>A rs112612481 0.00363
NM_032444.4(SLX4):c.5029C>T (p.Pro1677Ser) rs7196345 0.00363
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile) rs76675748 0.00361
NM_004333.6(BRAF):c.1141-19C>T rs71645959 0.00360
NM_005445.4(SMC3):c.2644+6T>A rs201281088 0.00359
NM_005850.5(SF3B4):c.735C>T (p.Pro245=) rs113949235 0.00359
NM_006565.4(CTCF):c.1702-10T>C rs151017109 0.00359
NM_001371986.1(UNC80):c.8589G>A (p.Ala2863=) rs192024023 0.00357
NM_025074.7(FRAS1):c.776T>G (p.Leu259Arg) rs148509395 0.00356
NM_018062.4(FANCL):c.670A>G (p.Thr224Ala) rs149731356 0.00355
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) rs41312172 0.00354
NM_001101.5(ACTB):c.426G>T (p.Leu142=) rs79074016 0.00353
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro) rs144372453 0.00352
NM_005633.4(SOS1):c.2997T>C (p.Asn999=) rs145364368 0.00352
NM_000142.5(FGFR3):c.1150T>C (p.Phe384Leu) rs17881656 0.00342
NM_004525.3(LRP2):c.149C>G (p.Thr50Ser) rs114460450 0.00342
NM_030632.3(ASXL3):c.4817G>A (p.Arg1606Gln) rs116363417 0.00339
NM_080680.3(COL11A2):c.2186G>A (p.Arg729Gln) rs61730262 0.00339
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) rs75501942 0.00334
NM_014008.5(CCDC22):c.536-7C>T rs191605685 0.00334
NM_006662.3(SRCAP):c.4596A>C (p.Ser1532=) rs114204931 0.00331
NM_004629.2(FANCG):c.238C>T (p.Leu80=) rs115131067 0.00330
NM_015443.4(KANSL1):c.773T>C (p.Leu258Ser) rs145714368 0.00328
NM_207361.6(FREM2):c.8460C>G (p.Ala2820=) rs138775857 0.00325
NM_001017420.3(ESCO2):c.1076A>C (p.Gln359Pro) rs57479434 0.00323
NM_004793.4(LONP1):c.1309G>A (p.Val437Ile) rs139554429 0.00321
NM_003482.4(KMT2D):c.6180C>T (p.Tyr2060=) rs186577948 0.00315
NM_001374828.1(ARID1B):c.3768C>T (p.Thr1256=) rs142391292 0.00312
NM_175875.5(SIX5):c.1963C>T (p.Leu655=) rs151072042 0.00312
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_004560.4(ROR2):c.937+10C>T rs201083970 0.00310
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439 0.00308
NM_198525.3(KIF7):c.1429G>A (p.Ala477Thr) rs527804875 0.00307
NM_004525.3(LRP2):c.2456G>A (p.Arg819His) rs142080405 0.00306
NM_024408.4(NOTCH2):c.1567+12C>T rs78223268 0.00306
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_005633.4(SOS1):c.2673+14T>C rs183998234 0.00304
NM_015295.3(SMCHD1):c.4808C>T (p.Thr1603Ile) rs147034750 0.00303
NM_052867.4(NALCN):c.3735A>G (p.Ser1245=) rs111383689 0.00300
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=) rs139721775 0.00296
NM_004525.3(LRP2):c.5538+10C>T rs115659204 0.00296
NM_003482.4(KMT2D):c.12867C>T (p.Leu4289=) rs202082835 0.00294
NM_025074.7(FRAS1):c.790-20C>T rs74461034 0.00292
NM_001034852.3(SMOC1):c.567G>A (p.Pro189=) rs142590267 0.00290
NM_000540.3(RYR1):c.425-19A>G rs193169917 0.00289
NM_004525.3(LRP2):c.1869C>T (p.Ala623=) rs148468966 0.00288
NM_004187.5(KDM5C):c.3540G>A (p.Thr1180=) rs76525703 0.00287
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=) rs17227361 0.00286
NM_000503.6(EYA1):c.840C>A (p.Ile280=) rs55972891 0.00286
NM_181741.4(ORC4):c.604T>G (p.Leu202Val) rs73003466 0.00285
NM_001453.3(FOXC1):c.1333A>C (p.Ser445Arg) rs75089353 0.00284
NM_005631.5(SMO):c.621C>T (p.Tyr207=) rs56318556 0.00282
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu) rs112581563 0.00281
NM_004525.3(LRP2):c.92C>T (p.Ala31Val) rs144829356 0.00280
NM_001371986.1(UNC80):c.9752C>G (p.Thr3251Arg) rs59504201 0.00276
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) rs34120922 0.00276
NM_207361.6(FREM2):c.7335T>C (p.Gly2445=) rs141921562 0.00276
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys) rs146458902 0.00274
NM_170606.3(KMT2C):c.11139C>T (p.Ala3713=) rs140482040 0.00273
NM_001271938.2(MEGF8):c.6481+11T>G rs138919410 0.00270
NM_000381.4(MID1):c.1242C>T (p.Tyr414=) rs142718564 0.00269
NM_012330.4(KAT6B):c.375C>T (p.Ser125=) rs41314998 0.00269
NM_004380.3(CREBBP):c.6849C>T (p.Ser2283=) rs148904096 0.00267
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249 0.00267
NM_022916.6(VPS33A):c.624G>A (p.Arg208=) rs2277335 0.00267
NM_001614.5(ACTG1):c.471C>T (p.Asp157=) rs11549222 0.00264
NM_004715.5(CTDP1):c.2070C>T (p.Gly690=) rs145726709 0.00262
NM_004560.4(ROR2):c.7C>T (p.Arg3Trp) rs539329891 0.00261
NM_006662.3(SRCAP):c.8703A>G (p.Leu2901=) rs61746613 0.00260
NM_000135.4(FANCA):c.2021C>T (p.Ser674Leu) rs17232973 0.00257
NM_001113378.2(FANCI):c.2011A>G (p.Ile671Val) rs139814895 0.00257
NM_000168.6(GLI3):c.1357-17C>G rs190600888 0.00256
NM_006662.3(SRCAP):c.8865C>G (p.Ser2955=) rs149043190 0.00256
NM_021922.3(FANCE):c.248+7C>A rs186563531 0.00255
NM_000168.6(GLI3):c.1028+15G>A rs116842918 0.00250
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=) rs143916832 0.00249
NM_005629.4(SLC6A8):c.813C>T (p.Val271=) rs138064933 0.00248
NM_020964.3(EPG5):c.740C>T (p.Pro247Leu) rs140494095 0.00247
NM_000540.3(RYR1):c.4443C>T (p.Asn1481=) rs141317474 0.00246
NM_002470.4(MYH3):c.3409C>T (p.Arg1137Cys) rs12941197 0.00245
NM_005816.5(CD96):c.807+14A>C rs144245769 0.00245
NM_004560.4(ROR2):c.175+17A>G rs372392835 0.00243
NM_001366722.1(GRIP1):c.2880G>A (p.Ser960=) rs181527317 0.00242
NM_004560.4(ROR2):c.372C>T (p.Asp124=) rs145568368 0.00241
NM_024408.4(NOTCH2):c.7042T>C (p.Leu2348=) rs61734328 0.00241
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_001379403.1(WDR26):c.1635T>C (p.His545=) rs140546120 0.00235
NM_005633.4(SOS1):c.570C>T (p.Asp190=) rs55980502 0.00233
NM_001113378.2(FANCI):c.1179T>C (p.Tyr393=) rs3743377 0.00228
NM_001009999.3(KDM1A):c.2448G>A (p.Pro816=) rs137940710 0.00226
NM_004525.3(LRP2):c.769+9G>A rs148452352 0.00225
NM_005120.3(MED12):c.384A>G (p.Gln128=) rs201566660 0.00225
NM_005633.4(SOS1):c.3081+13A>G rs189695571 0.00223
NM_030662.4(MAP2K2):c.1162C>T (p.Arg388Trp) rs144383241 0.00222
NM_001519.4(BRF1):c.549G>A (p.Pro183=) rs144658695 0.00221
NM_005359.6(SMAD4):c.1140-10T>C rs186332162 0.00221
NM_006662.3(SRCAP):c.9444T>C (p.Ser3148=) rs142948420 0.00220
NM_030665.4(RAI1):c.725C>T (p.Pro242Leu) rs150563155 0.00220
NM_004525.3(LRP2):c.8831-13G>A rs144717648 0.00218
NM_017780.4(CHD7):c.1536A>G (p.Pro512=) rs148577619 0.00218
NM_004380.3(CREBBP):c.4822C>A (p.Pro1608Thr) rs73491901 0.00217
NM_004380.3(CREBBP):c.6564G>A (p.Gln2188=) rs73491896 0.00217
NM_007294.4(BRCA1):c.-19-361C>T rs141625477 0.00217
NM_030632.3(ASXL3):c.6359C>T (p.Ala2120Val) rs151081332 0.00217
NM_006908.5(RAC1):c.495C>G (p.Leu165=) rs61753123 0.00215
NM_001330311.2(DVL1):c.1366A>G (p.Thr456Ala) rs140107023 0.00213
NM_001079520.2(DACT1):c.930G>C (p.Gln310His) rs139223977 0.00212
NM_032444.4(SLX4):c.2103G>C (p.Glu701Asp) rs73505420 0.00210
NM_001330311.2(DVL1):c.272C>T (p.Ala91Val) rs145496306 0.00208
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836 0.00206
NM_000346.4(SOX9):c.685+8G>A rs117696751 0.00205
NM_003922.4(HERC1):c.10547-7C>T rs192840076 0.00205
NM_015100.4(POGZ):c.1788A>G (p.Gln596=) rs144945886 0.00205
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) rs1800338 0.00201
NM_001042424.3(NSD2):c.4023C>T (p.Pro1341=) rs149925711 0.00201
NM_001113378.2(FANCI):c.3592-8T>C rs185599057 0.00200
NM_138927.4(SON):c.4583A>G (p.His1528Arg) rs138957569 0.00199
NM_000168.6(GLI3):c.840C>G (p.Ser280=) rs77084911 0.00198
NM_024408.4(NOTCH2):c.1568-17C>T rs373665797 0.00198
NM_001371623.1(TCOF1):c.4346-17T>A rs76350524 0.00195
NM_003482.4(KMT2D):c.12913G>A (p.Val4305Ile) rs199895011 0.00195
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373 0.00194
NM_207361.6(FREM2):c.84C>G (p.Pro28=) rs141718695 0.00194
NM_000168.6(GLI3):c.280C>T (p.Leu94=) rs115137047 0.00193
NM_024675.4(PALB2):c.1606C>T (p.Leu536=) rs151162255 0.00193
NM_000193.4(SHH):c.869G>A (p.Gly290Asp) rs104894047 0.00191
NM_004667.6(HERC2):c.3687C>T (p.Asp1229=) rs149204675 0.00190
NM_139125.4(MASP1):c.893-14T>G rs188032187 0.00190
NM_032444.4(SLX4):c.2328-9G>C rs73505419 0.00188
NM_000540.3(RYR1):c.297G>A (p.Thr99=) rs144241486 0.00186
NM_004525.3(LRP2):c.10030G>A (p.Ala3344Thr) rs137983840 0.00185
NM_006306.4(SMC1A):c.1323C>T (p.Tyr441=) rs144850468 0.00183
NM_006306.4(SMC1A):c.3450C>T (p.Ala1150=) rs142611198 0.00183
NM_025074.7(FRAS1):c.1108-12T>G rs150372637 0.00183
NM_015335.5(MED13L):c.1215T>G (p.Pro405=) rs147976467 0.00182
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196 0.00180
NM_015338.6(ASXL1):c.2957A>G (p.Asn986Ser) rs145132837 0.00178
NM_175875.5(SIX5):c.2173C>T (p.Leu725=) rs112320524 0.00178
NM_017780.4(CHD7):c.1179A>G (p.Pro393=) rs111238892 0.00177
NM_000503.6(EYA1):c.1200-11C>A rs181457812 0.00176
NM_001197104.2(KMT2A):c.9039T>A (p.Gly3013=) rs142875797 0.00175
NM_002709.3(PPP1CB):c.53-9G>A rs368197884 0.00172
NM_003184.4(TAF2):c.1655A>T (p.Tyr552Phe) rs149772375 0.00172
NM_015335.5(MED13L):c.4593C>T (p.Thr1531=) rs138774472 0.00172
NM_004525.3(LRP2):c.3122A>G (p.Asn1041Ser) rs143028579 0.00170
NM_015443.4(KANSL1):c.1653-10C>G rs199642265 0.00170
NM_016023.5(OTUD6B):c.658G>A (p.Val220Ile) rs143121527 0.00169
NM_025074.7(FRAS1):c.7652A>G (p.Gln2551Arg) rs183712679 0.00169
NM_001366722.1(GRIP1):c.2283G>A (p.Ser761=) rs200863167 0.00168
NM_004525.3(LRP2):c.1976-5T>A rs373234680 0.00167
NM_000540.3(RYR1):c.4999C>T (p.Arg1667Cys) rs144157950 0.00165
NM_003482.4(KMT2D):c.8149C>T (p.Pro2717Ser) rs201336660 0.00165
NM_001614.5(ACTG1):c.803-6C>T rs199600452 0.00164
NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671 0.00164
NM_000503.6(EYA1):c.321T>C (p.Ala107=) rs112282055 0.00162
NM_001018115.3(FANCD2):c.3560+20C>T rs55804542 0.00162
NM_147127.5(EVC2):c.1471-6C>T rs115466792 0.00162
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=) rs79203206 0.00160
NM_000142.5(FGFR3):c.1959+15G>C rs17886888 0.00158
NM_001031689.3(PLAA):c.1486+6A>T rs189073379 0.00158
NM_001379081.2(FREM1):c.2337+19A>G rs201898982 0.00158
NM_007294.4(BRCA1):c.1137T>G (p.Ile379Met) rs56128296 0.00158
NM_015443.4(KANSL1):c.607G>C (p.Gly203Arg) rs138175526 0.00156
NM_004525.3(LRP2):c.6954C>T (p.Asp2318=) rs34223099 0.00155
NM_003072.5(SMARCA4):c.258C>T (p.Asp86=) rs115992445 0.00153
NM_023110.3(FGFR1):c.336C>T (p.Thr112=) rs148480919 0.00153
NM_004465.2(FGF10):c.620A>C (p.His207Pro) rs147715509 0.00152
NM_001110792.2(MECP2):c.638C>T (p.Ala213Val) rs61748381 0.00150
NM_004525.3(LRP2):c.9914G>A (p.Arg3305His) rs3213760 0.00150
NM_013275.6(ANKRD11):c.5088C>G (p.Asp1696Glu) rs146205997 0.00150
NM_170606.3(KMT2C):c.1139G>T (p.Arg380Leu) rs138908625 0.00150
NM_207361.6(FREM2):c.714G>A (p.Gln238=) rs116236946 0.00150
NM_004525.3(LRP2):c.3081C>T (p.Gly1027=) rs138156358 0.00147
NM_133433.4(NIPBL):c.294C>T (p.Ala98=) rs142184978 0.00147
NM_001079520.2(DACT1):c.769G>A (p.Glu257Lys) rs77323631 0.00146
NM_000208.4(INSR):c.2682+9C>G rs41398545 0.00145
NM_017780.4(CHD7):c.1419G>C (p.Gly473=) rs186394299 0.00144
NM_015922.3(NSDHL):c.893G>T (p.Trp298Leu) rs139186585 0.00143
NM_019066.5(MAGEL2):c.2074G>A (p.Val692Ile) rs200926181 0.00142
NM_025074.7(FRAS1):c.5947C>T (p.Leu1983=) rs74893124 0.00142
NM_025074.7(FRAS1):c.789+12T>G rs142206350 0.00142
NM_002968.3(SALL1):c.3942C>T (p.Phe1314=) rs189411650 0.00141
NM_015910.7(WDPCP):c.1263A>C (p.Leu421Phe) rs189817127 0.00141
NM_024408.4(NOTCH2):c.6223G>A (p.Val2075Met) rs150516342 0.00141
NM_207361.6(FREM2):c.5544G>A (p.Glu1848=) rs114674141 0.00141
NM_000540.3(RYR1):c.11141+7A>G rs78350770 0.00140
NM_002968.3(SALL1):c.264C>T (p.Ser88=) rs143501736 0.00140
NM_004629.2(FANCG):c.646+12A>G rs17878604 0.00139
NM_015922.3(NSDHL):c.306C>T (p.Phe102=) rs141089248 0.00138
NM_004525.3(LRP2):c.2908+18G>A rs182125868 0.00136
NM_001282531.3(ADNP):c.2931A>G (p.Gly977=) rs144684998 0.00132
NM_006662.3(SRCAP):c.8755C>T (p.Leu2919Phe) rs149217909 0.00130
NM_001360.3(DHCR7):c.208G>A (p.Gly70Ser) rs144512551 0.00129
NM_003392.7(WNT5A):c.14T>C (p.Ile5Thr) rs200914260 0.00129
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691 0.00129
NM_004525.3(LRP2):c.12287T>C (p.Ile4096Thr) rs137922929 0.00129
NM_015570.4(AUTS2):c.1464C>T (p.Tyr488=) rs143055091 0.00129
NM_003072.5(SMARCA4):c.1419+9C>T rs374635008 0.00128
NM_015338.6(ASXL1):c.252+11T>C rs143337375 0.00128
NM_006265.3(RAD21):c.-32-1G>A rs16889042 0.00127
NM_001080517.3(SETD5):c.3196-8C>T rs373633825 0.00126
NM_017780.4(CHD7):c.3522+13T>A rs199581494 0.00126
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln) rs35625434 0.00124
NM_005445.4(SMC3):c.1671-6A>G rs200848781 0.00124
NM_175875.5(SIX5):c.1609+14C>T rs200640688 0.00124
NM_000168.6(GLI3):c.1671C>T (p.Tyr557=) rs143948870 0.00123
NM_030973.4(MED25):c.1675-7C>T rs79635160 0.00123
NM_000214.3(JAG1):c.909T>C (p.His303=) rs139574260 0.00121
NM_005343.4(HRAS):c.357C>T (p.Asp119=) rs111352454 0.00121
NM_006662.3(SRCAP):c.3097T>C (p.Ser1033Pro) rs202000509 0.00121
NM_018062.4(FANCL):c.1115G>C (p.Gly372Ala) rs149803148 0.00121
NM_014822.4(SEC24D):c.1042-6C>G rs117971741 0.00120
NM_001110792.2(MECP2):c.246C>T (p.Ser82=) rs61754439 0.00119
NM_002968.3(SALL1):c.3794G>A (p.Gly1265Glu) rs149302006 0.00118
NM_173660.5(DOK7):c.1507C>A (p.Pro503Thr) rs184556570 0.00117
NM_005026.5(PIK3CD):c.2919C>T (p.Leu973=) rs143168081 0.00114
NM_001197104.2(KMT2A):c.6572G>A (p.Arg2191Gln) rs141727765 0.00109
NM_001282531.3(ADNP):c.2943G>T (p.Val981=) rs143103063 0.00107
NM_003482.4(KMT2D):c.1938C>G (p.Pro646=) rs147212187 0.00107
NM_015443.4(KANSL1):c.1116A>G (p.Lys372=) rs62639965 0.00107
NM_001042750.2(STAG2):c.45-11T>C rs183562950 0.00106
NM_001374353.1(GLI2):c.2437T>C (p.Phe813Leu) rs556743028 0.00106
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459 0.00106
NM_006662.3(SRCAP):c.5403C>T (p.Ala1801=) rs140196853 0.00105
NM_001365999.1(SZT2):c.7256G>A (p.Arg2419Gln) rs72637949 0.00103
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649 0.00102
NM_017780.4(CHD7):c.6660T>G (p.Gly2220=) rs34527521 0.00100
NM_033360.4(KRAS):c.5-18A>G rs200189105 0.00100
NM_007294.4(BRCA1):c.5277+78G>A rs80358107 0.00099
NM_025074.7(FRAS1):c.9228C>T (p.Thr3076=) rs369529123 0.00099
NM_001365999.1(SZT2):c.4983T>C (p.Asp1661=) rs139810154 0.00098
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854 0.00098
NM_024408.4(NOTCH2):c.1108+14G>A rs377649578 0.00098
NM_001197104.2(KMT2A):c.9391G>A (p.Gly3131Ser) rs150804738 0.00097
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711 0.00096
NM_002834.5(PTPN11):c.526-17T>C rs375184329 0.00096
NM_003922.4(HERC1):c.12967-4C>G rs374953824 0.00096
NM_207361.6(FREM2):c.5109C>T (p.Ala1703=) rs11619157 0.00096
NM_001197104.2(KMT2A):c.4326T>C (p.His1442=) rs141961986 0.00093
NM_001270.4(CHD1):c.4033A>G (p.Ile1345Val) rs139215644 0.00093
NM_006662.3(SRCAP):c.7121C>A (p.Thr2374Asn) rs142242633 0.00093
NM_000214.3(JAG1):c.1578C>T (p.Ile526=) rs1801139 0.00092
NM_003482.4(KMT2D):c.5874C>T (p.Arg1958=) rs182887940 0.00091
NM_000540.3(RYR1):c.7836-19C>T rs201378267 0.00090
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu) rs363831 0.00089
NM_001379081.2(FREM1):c.5049C>T (p.Asn1683=) rs200063334 0.00089
NM_000540.3(RYR1):c.14130-9T>G rs191894192 0.00088
NM_003070.5(SMARCA2):c.4731T>C (p.Asp1577=) rs143522467 0.00088
NM_004525.3(LRP2):c.1042+19C>T rs183348926 0.00088
NM_004525.3(LRP2):c.2909-19C>T rs144286272 0.00087
NM_000264.5(PTCH1):c.4048C>T (p.Arg1350Trp) rs140417636 0.00086
NM_001371986.1(UNC80):c.2616G>A (p.Pro872=) rs200238702 0.00086
NM_022455.5(NSD1):c.2450C>T (p.Ser817Phe) rs115722008 0.00086
NM_181486.4(TBX5):c.316A>G (p.Ile106Val) rs147710408 0.00086
NM_000168.6(GLI3):c.501G>A (p.Thr167=) rs149901929 0.00084
NM_005633.4(SOS1):c.2238T>C (p.Asn746=) rs75877625 0.00084
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=) rs146673563 0.00084
NM_001101.5(ACTB):c.687G>A (p.Thr229=) rs138499594 0.00083
NM_175875.5(SIX5):c.549G>A (p.Val183=) rs143904307 0.00083
NM_005633.4(SOS1):c.73C>T (p.Pro25Ser) rs139592595 0.00082
NM_207361.6(FREM2):c.8100T>G (p.Leu2700=) rs141834289 0.00082
NM_000214.3(JAG1):c.439+10G>A rs201371037 0.00081
NM_003922.4(HERC1):c.6195A>G (p.Thr2065=) rs182614197 0.00081
NM_001101.5(ACTB):c.762G>C (p.Arg254=) rs145818896 0.00080
NM_017780.4(CHD7):c.7165-5A>G rs376076407 0.00078
NM_021922.3(FANCE):c.522G>A (p.Gly174=) rs145648734 0.00078
NM_003482.4(KMT2D):c.3572C>T (p.Pro1191Leu) rs112236653 0.00076
NM_015338.6(ASXL1):c.2059T>C (p.Cys687Arg) rs140197482 0.00076
NM_017780.4(CHD7):c.3202-5T>C rs147994149 0.00076
NM_170707.4(LMNA):c.1489-16C>G rs201379016 0.00076
NM_003482.4(KMT2D):c.1120C>A (p.Pro374Thr) rs202013880 0.00075
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_006662.3(SRCAP):c.8982C>G (p.Thr2994=) rs150765091 0.00074
NM_170784.3(MKKS):c.15A>G (p.Glu5=) rs145396188 0.00074
NM_001372066.1(TFAP2A):c.579C>T (p.Ser193=) rs143363077 0.00073
NM_004525.3(LRP2):c.3311A>G (p.His1104Arg) rs144906000 0.00073
NM_030632.3(ASXL3):c.6603C>T (p.Ala2201=) rs3809986 0.00073
NM_001122681.2(SH3BP2):c.1686A>G (p.Ter562Trp) rs190648042 0.00072
NM_001378964.1(CDON):c.350-11A>G rs199981607 0.00072
NM_001018115.3(FANCD2):c.577A>G (p.Thr193Ala) rs34936017 0.00070
NM_001429.4(EP300):c.1519A>G (p.Ser507Gly) rs146242251 0.00070
NM_004380.3(CREBBP):c.3698+7G>A rs374345970 0.00070
NM_015443.4(KANSL1):c.1938C>T (p.Pro646=) rs371047711 0.00070
NM_025074.7(FRAS1):c.10390-18A>T rs146407399 0.00070
NM_025074.7(FRAS1):c.8574G>A (p.Lys2858=) rs201745281 0.00070
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_000214.3(JAG1):c.2231G>A (p.Arg744Gln) rs147809756 0.00069
NM_012431.3(SEMA3E):c.738C>A (p.Phe246Leu) rs192697566 0.00069
NM_022455.5(NSD1):c.1980C>T (p.Asn660=) rs140072393 0.00069
NM_001904.4(CTNNB1):c.1683+17A>G rs2276826 0.00068
NM_001018115.3(FANCD2):c.2269+12A>G rs34751191 0.00067
NM_001372066.1(TFAP2A):c.426C>T (p.Leu142=) rs369051842 0.00067
NM_006662.3(SRCAP):c.1134+6G>C rs143387966 0.00067
NM_000168.6(GLI3):c.1647+13G>A rs149955824 0.00066
NM_004333.6(BRAF):c.981-20C>T rs374896031 0.00066
NM_007294.4(BRCA1):c.1427A>G (p.His476Arg) rs55720177 0.00066
NM_024408.4(NOTCH2):c.2752+17G>C rs370708756 0.00066
NM_025074.7(FRAS1):c.9317-4G>A rs142971896 0.00066
NM_001101.5(ACTB):c.1107C>T (p.Ile369=) rs71531321 0.00065
NM_003036.4(SKI):c.1593T>C (p.Pro531=) rs144279718 0.00065
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_001379081.2(FREM1):c.4867T>C (p.Leu1623=) rs369101934 0.00064
NM_004380.3(CREBBP):c.4494A>G (p.Arg1498=) rs149560660 0.00064
NM_004380.3(CREBBP):c.4133+9G>A rs376602227 0.00063
NM_004525.3(LRP2):c.7926T>G (p.Thr2642=) rs138903794 0.00063
NM_024408.4(NOTCH2):c.2981+11A>G rs148899572 0.00063
NM_025074.7(FRAS1):c.5010A>G (p.Leu1670=) rs187816883 0.00063
NM_030665.4(RAI1):c.3650G>A (p.Arg1217Gln) rs142415050 0.00063
NM_004525.3(LRP2):c.891T>C (p.Asp297=) rs112343092 0.00062
NM_078480.3(PUF60):c.1254G>A (p.Glu418=) rs117178721 0.00062
NM_022455.5(NSD1):c.480C>T (p.Asp160=) rs79427433 0.00061
NM_024675.4(PALB2):c.2996+17T>C rs180177128 0.00060
NM_006662.3(SRCAP):c.307-7T>C rs201397245 0.00059
NM_006662.3(SRCAP):c.9229C>A (p.Arg3077=) rs143133981 0.00059
NM_006766.5(KAT6A):c.3561C>T (p.Cys1187=) rs368311389 0.00059
NM_000540.3(RYR1):c.14070G>A (p.Thr4690=) rs113058779 0.00057
NM_003737.4(DCHS1):c.3481+9A>T rs141566818 0.00057
NM_015922.3(NSDHL):c.834C>T (p.Phe278=) rs149698967 0.00057
NM_012431.3(SEMA3E):c.1680A>G (p.Arg560=) rs186628513 0.00056
NM_001374828.1(ARID1B):c.535C>A (p.His179Asn) rs374989034 0.00055
NM_194318.4(B3GLCT):c.1185-6C>G rs202096313 0.00055
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716 0.00054
NM_001122681.2(SH3BP2):c.1549-12C>A rs202005559 0.00054
NM_000135.4(FANCA):c.1047G>A (p.Ala349=) rs144900606 0.00053
NM_000138.5(FBN1):c.4683C>T (p.Ser1561=) rs148024160 0.00053
NM_001113378.2(FANCI):c.1893A>C (p.Leu631Phe) rs118138806 0.00053
NM_004560.4(ROR2):c.494+17C>T rs201549038 0.00053
NM_006701.5(TXNL4A):c.423C>T (p.Arg141=) rs143131944 0.00053
NM_015295.3(SMCHD1):c.1132-14C>T rs184510956 0.00053
NM_015443.4(KANSL1):c.688A>G (p.Asn230Asp) rs34756740 0.00053
NM_001083962.2(TCF4):c.*5-10C>T rs552239655 0.00052
NM_015311.3(OBSL1):c.2577G>T (p.Gly859=) rs141559295 0.00052
NM_015311.3(OBSL1):c.2578C>T (p.Pro860Ser) rs117788171 0.00052
NM_175875.5(SIX5):c.1264C>T (p.Leu422=) rs193244455 0.00052
NM_024408.4(NOTCH2):c.7140G>C (p.Val2380=) rs150785478 0.00051
NM_032444.4(SLX4):c.4836C>T (p.Asp1612=) rs140844106 0.00051
NM_004380.3(CREBBP):c.2409C>T (p.Ser803=) rs139207930 0.00050
NM_000965.5(RARB):c.768C>T (p.Ala256=) rs115482149 0.00049
NM_001379081.2(FREM1):c.4995C>T (p.Asp1665=) rs372941168 0.00049
NM_004380.3(CREBBP):c.5886C>T (p.Ile1962=) rs370565083 0.00049
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met) rs148176616 0.00048
NM_002968.3(SALL1):c.3310C>G (p.Pro1104Ala) rs547153228 0.00048
NM_001018115.3(FANCD2):c.4038+8G>A rs190990145 0.00047
NM_002834.5(PTPN11):c.1379+20C>T rs184743462 0.00047
NM_030665.4(RAI1):c.4317G>T (p.Gly1439=) rs572421943 0.00047
NM_001018113.3(FANCB):c.1067C>T (p.Ser356Leu) rs142304943 0.00046
NM_001282531.3(ADNP):c.3058C>G (p.Gln1020Glu) rs150374762 0.00046
NM_001291415.2(KDM6A):c.1683+20C>T rs557391484 0.00046
NM_001372066.1(TFAP2A):c.924C>T (p.Tyr308=) rs141711078 0.00046
NM_004525.3(LRP2):c.13728+13G>A rs200492791 0.00046
NM_006306.4(SMC1A):c.1912-14C>T rs375109064 0.00046
NM_006662.3(SRCAP):c.633+9T>C rs150267250 0.00046
NM_007118.4(TRIO):c.7401T>C (p.Ser2467=) rs377647192 0.00046
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His) rs80356892 0.00046
NM_002968.3(SALL1):c.2331C>T (p.Asn777=) rs144747142 0.00045
NM_015922.3(NSDHL):c.351T>C (p.Phe117=) rs138711934 0.00045
NM_015443.4(KANSL1):c.1689C>T (p.Asp563=) rs113557856 0.00044
NM_015922.3(NSDHL):c.678C>T (p.Phe226=) rs147293409 0.00044
NM_004333.6(BRAF):c.2127+3A>G rs371976102 0.00043
NM_024757.5(EHMT1):c.204T>C (p.Asn68=) rs3812496 0.00043
NM_207361.6(FREM2):c.4632T>C (p.Ser1544=) rs146140915 0.00043
NM_013275.6(ANKRD11):c.1852G>A (p.Ala618Thr) rs140370885 0.00042
NM_014780.5(CUL7):c.1030G>A (p.Ala344Thr) rs183119565 0.00042
NM_015443.4(KANSL1):c.571G>T (p.Gly191Cys) rs149566146 0.00042
NM_022455.5(NSD1):c.3564G>C (p.Arg1188Ser) rs199814669 0.00042
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003 0.00041
NM_001004356.3(FGFRL1):c.541G>A (p.Asp181Asn) rs201262483 0.00041
NM_001904.4(CTNNB1):c.1155C>A (p.Leu385=) rs74692094 0.00041
NM_004380.3(CREBBP):c.879G>A (p.Val293=) rs144344016 0.00041
NM_004525.3(LRP2):c.6048C>T (p.Ala2016=) rs144449508 0.00040
NM_006939.4(SOS2):c.1521G>T (p.Glu507Asp) rs141604342 0.00040
NM_020699.4(GATAD2B):c.1020C>T (p.Ser340=) rs140272058 0.00040
NM_032444.4(SLX4):c.2160+18C>T rs373726275 0.00040
NM_001101.5(ACTB):c.984+15T>C rs372551192 0.00039
NM_001372066.1(TFAP2A):c.141G>A (p.Leu47=) rs149126243 0.00039
NM_004958.4(MTOR):c.1145A>G (p.Asn382Ser) rs146393749 0.00039
NM_006662.3(SRCAP):c.8676T>G (p.Ala2892=) rs140675498 0.00039
NM_181486.4(TBX5):c.354T>C (p.Asp118=) rs151249768 0.00039
NM_207361.6(FREM2):c.2538C>A (p.Ile846=) rs377627650 0.00039
NM_207361.6(FREM2):c.4581C>T (p.Ser1527=) rs114925418 0.00039
NM_001018113.3(FANCB):c.1393T>C (p.Ser465Pro) rs143976596 0.00038
NM_001366722.1(GRIP1):c.2886G>A (p.Pro962=) rs375330927 0.00038
NM_002968.3(SALL1):c.3120A>G (p.Thr1040=) rs146655918 0.00038
NM_004380.3(CREBBP):c.4119C>T (p.Pro1373=) rs3025679 0.00038
NM_005629.4(SLC6A8):c.1496-8C>T rs376038235 0.00038
NM_006268.5(DPF2):c.302-11C>T rs373181445 0.00038
NM_006662.3(SRCAP):c.9562C>T (p.Arg3188Cys) rs201133838 0.00038
NM_007118.4(TRIO):c.9178G>A (p.Val3060Ile) rs149252703 0.00038
NM_015443.4(KANSL1):c.635A>G (p.His212Arg) rs141110759 0.00038
NM_005982.4(SIX1):c.615T>G (p.Pro205=) rs148433316 0.00037
NM_015443.4(KANSL1):c.3170A>G (p.Gln1057Arg) rs201083879 0.00037
NM_015570.4(AUTS2):c.2397G>A (p.Thr799=) rs140914046 0.00037
NM_000136.3(FANCC):c.457-18A>G rs377206543 0.00036
NM_001081550.2(THOC2):c.1261G>A (p.Ala421Thr) rs145905162 0.00036
NM_001113378.2(FANCI):c.1992+10T>C rs375345390 0.00036
NM_001371623.1(TCOF1):c.2842G>T (p.Ala948Ser) rs181102251 0.00036
NM_001374353.1(GLI2):c.4530T>C (p.Gly1510=) rs144700510 0.00036
NM_014780.5(CUL7):c.1542G>T (p.Gln514His) rs146808129 0.00036
NM_022455.5(NSD1):c.4379-15A>G rs143520065 0.00036
NM_170606.3(KMT2C):c.2702T>C (p.Leu901Pro) rs370313067 0.00036
NM_000135.4(FANCA):c.543G>A (p.Ala181=) rs143314367 0.00035
NM_000141.5(FGFR2):c.2232C>T (p.Pro744=) rs142639988 0.00035
NM_001429.4(EP300):c.6951G>A (p.Arg2317=) rs139551099 0.00035
NM_012330.4(KAT6B):c.3729G>C (p.Lys1243Asn) rs550048327 0.00035
NM_012431.3(SEMA3E):c.1174G>A (p.Gly392Arg) rs181129823 0.00035
NM_012431.3(SEMA3E):c.15G>A (p.Gly5=) rs140094033 0.00035
NM_017780.4(CHD7):c.1666-15A>G rs372978951 0.00035
NM_024675.4(PALB2):c.1470C>T (p.Pro490=) rs45612837 0.00035
NM_170784.3(MKKS):c.231G>A (p.Leu77=) rs373913834 0.00035
NM_001018115.3(FANCD2):c.246C>T (p.Thr82=) rs371915501 0.00034
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser) rs61749713 0.00034
NM_001110792.2(MECP2):c.978C>T (p.Ile326=) rs61751446 0.00034
NM_001113378.2(FANCI):c.2291+12C>G rs369540539 0.00034
NM_004525.3(LRP2):c.9069C>T (p.Asp3023=) rs148612649 0.00034
NM_006662.3(SRCAP):c.8515G>A (p.Gly2839Ser) rs139886717 0.00034
NM_012330.4(KAT6B):c.2374-10T>C rs376833457 0.00034
NM_015100.4(POGZ):c.747C>T (p.Thr249=) rs148175159 0.00034
NM_023110.3(FGFR1):c.1398C>T (p.Pro466=) rs150652786 0.00034
NM_147127.5(EVC2):c.2310G>T (p.Trp770Cys) rs572056540 0.00034
NM_001379081.2(FREM1):c.6279A>G (p.Val2093=) rs373107801 0.00033
NM_006662.3(SRCAP):c.492+11C>T rs192794742 0.00033
NM_017780.4(CHD7):c.1188G>T (p.Met396Ile) rs201653177 0.00033
NM_170606.3(KMT2C):c.5171G>T (p.Ser1724Ile) rs138819584 0.00033
NM_000136.3(FANCC):c.-78-18T>G rs560839822 0.00032
NM_000141.5(FGFR2):c.1986+7C>T rs199697707 0.00032
NM_000503.6(EYA1):c.966+4C>T rs139429307 0.00032
NM_004560.4(ROR2):c.721G>A (p.Ala241Thr) rs141577636 0.00032
NM_006662.3(SRCAP):c.7850C>T (p.Pro2617Leu) rs201670251 0.00032
NM_006662.3(SRCAP):c.8406C>T (p.Ser2802=) rs147473528 0.00032
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser) rs80357015 0.00032
NM_015443.4(KANSL1):c.2698G>A (p.Gly900Arg) rs74867664 0.00032
NM_015910.7(WDPCP):c.1916-18A>G rs201068492 0.00032
NM_022455.5(NSD1):c.639C>T (p.Ser213=) rs755931458 0.00032
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_000168.6(GLI3):c.211G>A (p.Val71Ile) rs143843875 0.00031
NM_001371986.1(UNC80):c.6758T>C (p.Met2253Thr) rs528391043 0.00031
NM_001371986.1(UNC80):c.9504G>A (p.Pro3168=) rs376511864 0.00031
NM_004380.3(CREBBP):c.3982+9C>T rs114668693 0.00031
NM_004525.3(LRP2):c.6057A>G (p.Ser2019=) rs150970767 0.00031
NM_005982.4(SIX1):c.162G>A (p.Ala54=) rs150550985 0.00031
NM_006662.3(SRCAP):c.6501C>T (p.Ile2167=) rs202092944 0.00031
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_025074.7(FRAS1):c.396G>A (p.Pro132=) rs370747359 0.00031
NM_025074.7(FRAS1):c.7344C>T (p.Leu2448=) rs201842464 0.00031
NM_170784.3(MKKS):c.416G>A (p.Arg139Gln) rs145045986 0.00031
NM_000135.4(FANCA):c.1225+12C>T rs200672872 0.00030
NM_000135.4(FANCA):c.1716-20T>C rs367726674 0.00030
NM_002834.5(PTPN11):c.643-6dup rs758889732 0.00030
NM_004380.3(CREBBP):c.2616G>A (p.Thr872=) rs781112420 0.00030
NM_006662.3(SRCAP):c.8373G>A (p.Pro2791=) rs150187491 0.00030
NM_006662.3(SRCAP):c.8893C>T (p.Arg2965Trp) rs141497857 0.00030
NM_012330.4(KAT6B):c.6162C>T (p.His2054=) rs192237531 0.00030
NM_001018115.3(FANCD2):c.2256T>A (p.Ile752=) rs373461068 0.00029
NM_001197104.2(KMT2A):c.8697A>G (p.Val2899=) rs139469741 0.00029
NM_001429.4(EP300):c.6481A>G (p.Met2161Val) rs188035979 0.00029
NM_003070.5(SMARCA2):c.246C>T (p.Asp82=) rs181403075 0.00029
NM_003070.5(SMARCA2):c.4595-7G>C rs199897032 0.00029
NM_004525.3(LRP2):c.80-13T>C rs201879092 0.00029
NM_012431.3(SEMA3E):c.999-12T>C rs373951907 0.00029
NM_015559.3(SETBP1):c.2934C>T (p.His978=) rs145566816 0.00029
NM_017780.4(CHD7):c.3989+9C>T rs373206209 0.00029
NM_017780.4(CHD7):c.4014C>T (p.Gly1338=) rs188679907 0.00029
NM_023110.3(FGFR1):c.2424C>G (p.Pro808=) rs374507681 0.00029
NM_024408.4(NOTCH2):c.7086C>T (p.Asp2362=) rs150657714 0.00029
NM_000135.4(FANCA):c.801T>C (p.Val267=) rs55660936 0.00028
NM_001429.4(EP300):c.2380-18T>C rs189468196 0.00028
NM_015910.7(WDPCP):c.252G>T (p.Glu84Asp) rs201399904 0.00028
NM_025074.7(FRAS1):c.10649-18T>C rs183886250 0.00028
NM_000141.5(FGFR2):c.1761C>T (p.Ser587=) rs147173572 0.00027
NM_002968.3(SALL1):c.387C>T (p.Ala129=) rs147647889 0.00027
NM_003072.5(SMARCA4):c.1245+18C>T rs376247014 0.00027
NM_004360.5(CDH1):c.303C>T (p.Tyr101=) rs150789339 0.00027
NM_004525.3(LRP2):c.8505T>C (p.Cys2835=) rs140925226 0.00027
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_000141.5(FGFR2):c.1911C>T (p.Asn637=) rs149008039 0.00026
NM_000168.6(GLI3):c.1242+8G>A rs75925934 0.00026
NM_000214.3(JAG1):c.414G>A (p.Ala138=) rs371682149 0.00026
NM_001018115.3(FANCD2):c.1766+16C>T rs201040143 0.00026
NM_001101.5(ACTB):c.645G>A (p.Lys215=) rs145017784 0.00026
NM_001113378.2(FANCI):c.1822-18C>T rs373603139 0.00026
NM_001379200.1(TBX1):c.941G>A (p.Arg314Gln) rs555522870 0.00026
NM_002641.4(PIGA):c.525T>C (p.Leu175=) rs61751426 0.00026
NM_003482.4(KMT2D):c.1365A>G (p.Glu455=) rs141231056 0.00026
NM_006662.3(SRCAP):c.2655C>A (p.Gly885=) rs144028938 0.00026
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00026
NM_012330.4(KAT6B):c.4434C>T (p.Gly1478=) rs148364222 0.00026
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701 0.00025
NM_000059.4(BRCA2):c.9876G>A (p.Pro3292=) rs369047997 0.00025
NM_000135.4(FANCA):c.399C>T (p.His133=) rs56190097 0.00025
NM_001018115.3(FANCD2):c.1143C>T (p.Asp381=) rs376349741 0.00025
NM_001366722.1(GRIP1):c.55+9C>A rs199740150 0.00025
NM_004667.6(HERC2):c.3133C>T (p.Arg1045Cys) rs117802902 0.00025
NM_004985.5(KRAS):c.24A>G (p.Val8=) rs147406419 0.00025
NM_006015.6(ARID1A):c.1803+9T>C rs371726505 0.00025
NM_022455.5(NSD1):c.3187A>G (p.Thr1063Ala) rs193290006 0.00025
NM_022455.5(NSD1):c.7908C>T (p.Leu2636=) rs143159630 0.00025
NM_001018113.3(FANCB):c.1995C>T (p.Pro665=) rs192743430 0.00024
NM_001366722.1(GRIP1):c.579-8C>T rs375593950 0.00024
NM_002755.4(MAP2K1):c.237C>T (p.Gly79=) rs148656020 0.00024
NM_002968.3(SALL1):c.3729C>T (p.Asn1243=) rs148612488 0.00024
NM_003482.4(KMT2D):c.10423G>A (p.Ala3475Thr) rs370434981 0.00024
NM_004380.3(CREBBP):c.4251C>T (p.Tyr1417=) rs61731412 0.00024
NM_004525.3(LRP2):c.13108+12G>A rs370126040 0.00024
NM_004560.4(ROR2):c.1572G>A (p.Glu524=) rs138666116 0.00024
NM_006662.3(SRCAP):c.9253A>G (p.Met3085Val) rs369935740 0.00024
NM_012330.4(KAT6B):c.4611C>T (p.Ile1537=) rs371945178 0.00024
NM_012330.4(KAT6B):c.5355C>T (p.Pro1785=) rs138711901 0.00024
NM_015311.3(OBSL1):c.423G>A (p.Arg141=) rs79796143 0.00024
NM_015443.4(KANSL1):c.286T>C (p.Leu96=) rs140268765 0.00024
NM_015910.7(WDPCP):c.826-13T>C rs368439537 0.00024
NM_025074.7(FRAS1):c.6834G>A (p.Glu2278=) rs375278138 0.00024
NM_138927.4(SON):c.3640C>T (p.Pro1214Ser) rs191169903 0.00024
NM_000141.5(FGFR2):c.64C>T (p.Arg22Trp) rs377570596 0.00023
NM_000168.6(GLI3):c.30C>T (p.Thr10=) rs148154157 0.00023
NM_000168.6(GLI3):c.474-4C>T rs74536326 0.00023
NM_001018115.3(FANCD2):c.609T>C (p.Ala203=) rs374019283 0.00023
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_020297.4(ABCC9):c.3315+17C>T rs200692327 0.00023
NM_025074.7(FRAS1):c.7053C>T (p.Ile2351=) rs187011600 0.00023
NM_000214.3(JAG1):c.3507G>C (p.Arg1169=) rs138452567 0.00022
NM_001110792.2(MECP2):c.1174G>A (p.Val392Met) rs267608572 0.00022
NM_005732.4(RAD50):c.1677C>T (p.His559=) rs142619269 0.00022
NM_006662.3(SRCAP):c.2883C>T (p.Asp961=) rs141067629 0.00022
NM_022455.5(NSD1):c.2968G>A (p.Glu990Lys) rs138673583 0.00022
NM_025074.7(FRAS1):c.1635C>T (p.Ser545=) rs528765554 0.00022
NM_032444.4(SLX4):c.1065G>A (p.Gln355=) rs200183071 0.00022
NM_001018115.3(FANCD2):c.696-18T>G rs56083801 0.00021
NM_001197104.2(KMT2A):c.6576C>T (p.Ser2192=) rs201483860 0.00021
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys) rs200310662 0.00021
NM_004380.3(CREBBP):c.4560+14A>G rs200934101 0.00021
NM_004525.3(LRP2):c.8847G>A (p.Ser2949=) rs181346149 0.00021
NM_007294.4(BRCA1):c.571G>A (p.Val191Ile) rs80357090 0.00021
NM_012330.4(KAT6B):c.4211G>A (p.Arg1404His) rs563033366 0.00021
NM_015443.4(KANSL1):c.525C>T (p.Ser175=) rs148321376 0.00021
NM_021922.3(FANCE):c.1316+10C>T rs200479051 0.00021
NM_024408.4(NOTCH2):c.6997G>C (p.Ala2333Pro) rs143506822 0.00021
NM_024675.4(PALB2):c.1281T>C (p.Ala427=) rs138697796 0.00021
NM_025074.7(FRAS1):c.5214C>T (p.Tyr1738=) rs368304108 0.00021
NM_030662.4(MAP2K2):c.450+17C>T rs199892711 0.00021
NM_207361.6(FREM2):c.9007-8C>T rs374741888 0.00021
NM_001379081.2(FREM1):c.4941C>T (p.Tyr1647=) rs373880888 0.00020
NM_003482.4(KMT2D):c.6836G>A (p.Gly2279Glu) rs200578414 0.00020
NM_004247.4(EFTUD2):c.106-17C>T rs190562796 0.00020
NM_004525.3(LRP2):c.10768+12C>T rs17848185 0.00020
NM_006306.4(SMC1A):c.3438-7C>T rs782796392 0.00020
NM_032444.4(SLX4):c.465A>G (p.Glu155=) rs138512851 0.00020
NM_000214.3(JAG1):c.2073T>C (p.Cys691=) rs200648035 0.00019
NM_001003722.2(GLE1):c.1731C>T (p.Tyr577=) rs199722904 0.00019
NM_001367561.1(DOCK7):c.6045C>T (p.Pro2015=) rs202231787 0.00019
NM_003392.7(WNT5A):c.522G>T (p.Pro174=) rs559836923 0.00019
NM_004525.3(LRP2):c.12360C>A (p.Ile4120=) rs150906896 0.00019
NM_006306.4(SMC1A):c.1173G>A (p.Gln391=) rs147952638 0.00019
NM_006662.3(SRCAP):c.1135-14C>T rs534965827 0.00019
NM_007294.4(BRCA1):c.827C>G (p.Thr276Arg) rs80357436 0.00019
NM_015443.4(KANSL1):c.620A>G (p.Asn207Ser) rs144882998 0.00019
NM_015559.3(SETBP1):c.2062G>A (p.Val688Ile) rs370618204 0.00019
NM_020964.3(EPG5):c.5631T>C (p.Leu1877=) rs376297358 0.00019
NM_022455.5(NSD1):c.6444T>C (p.Asn2148=) rs146601031 0.00019
NM_025074.7(FRAS1):c.11871G>A (p.Arg3957=) rs367585112 0.00019
NM_025074.7(FRAS1):c.8058C>T (p.Asn2686=) rs767860539 0.00019
NM_030665.4(RAI1):c.4295C>T (p.Pro1432Leu) rs201405375 0.00019
NM_032444.4(SLX4):c.1389A>G (p.Lys463=) rs376668879 0.00019
NM_080680.3(COL11A2):c.4230+13C>G rs200051654 0.00019
NM_175875.5(SIX5):c.543C>A (p.Gly181=) rs372584912 0.00019
NM_001101.5(ACTB):c.364-4A>G rs763065691 0.00018
NM_005120.3(MED12):c.4111C>T (p.Pro1371Ser) rs587778437 0.00018
NM_024408.4(NOTCH2):c.6486C>T (p.Ser2162=) rs372865598 0.00018
NM_032444.4(SLX4):c.2079C>T (p.Val693=) rs150206155 0.00018
NM_032444.4(SLX4):c.4545C>T (p.Asp1515=) rs142851654 0.00018
NM_004333.6(BRAF):c.240+18A>G rs368584855 0.00017
NM_004525.3(LRP2):c.828G>A (p.Ser276=) rs146048301 0.00017
NM_006662.3(SRCAP):c.8387T>C (p.Met2796Thr) rs143103128 0.00017
NM_015922.3(NSDHL):c.987C>T (p.Val329=) rs149122192 0.00017
NM_016111.4(TELO2):c.2376C>T (p.Asp792=) rs200969710 0.00017
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val) rs141458731 0.00017
NM_032444.4(SLX4):c.5433C>T (p.Ala1811=) rs142477564 0.00017
NM_175875.5(SIX5):c.1462C>T (p.Pro488Ser) rs200487992 0.00017
NM_000135.4(FANCA):c.2152-20T>A rs200403206 0.00016
NM_000264.5(PTCH1):c.4001G>A (p.Ser1334Asn) rs200620662 0.00016
NM_000503.6(EYA1):c.1185C>T (p.Asn395=) rs372488542 0.00016
NM_001101.5(ACTB):c.315G>C (p.Leu105=) rs139795454 0.00016
NM_001113378.2(FANCI):c.3051C>T (p.Asn1017=) rs768378979 0.00016
NM_001142730.3(KCTD1):c.2181C>T (p.Pro727=) rs180735402 0.00016
NM_001330078.2(NRXN1):c.4176T>C (p.Asp1392=) rs201135028 0.00016
NM_001367561.1(DOCK7):c.4491G>A (p.Thr1497=) rs373928701 0.00016
NM_003392.7(WNT5A):c.807G>A (p.Lys269=) rs117338660 0.00016
NM_004333.6(BRAF):c.1860+16A>G rs368859030 0.00016
NM_004380.3(CREBBP):c.6138G>A (p.Ala2046=) rs371656213 0.00016
NM_004525.3(LRP2):c.12072C>T (p.Thr4024=) rs140444992 0.00016
NM_004525.3(LRP2):c.8005+14C>A rs374471253 0.00016
NM_004525.3(LRP2):c.8352G>C (p.Thr2784=) rs200194530 0.00016
NM_004525.3(LRP2):c.8409A>G (p.Val2803=) rs201263376 0.00016
NM_004560.4(ROR2):c.2274G>A (p.Ser758=) rs139915017 0.00016
NM_004560.4(ROR2):c.525G>A (p.Gln175=) rs147616624 0.00016
NM_006662.3(SRCAP):c.3519C>T (p.Pro1173=) rs368322185 0.00016
NM_012330.4(KAT6B):c.3028C>T (p.Arg1010Trp) rs142309185 0.00016
NM_012330.4(KAT6B):c.5922G>A (p.Ala1974=) rs780751688 0.00016
NM_012330.4(KAT6B):c.6048G>A (p.Thr2016=) rs116978399 0.00016
NM_012431.3(SEMA3E):c.1435C>T (p.Leu479=) rs757610572 0.00016
NM_012431.3(SEMA3E):c.1732G>A (p.Val578Ile) rs200779956 0.00016
NM_015570.4(AUTS2):c.188C>A (p.Pro63Gln) rs199945820 0.00016
NM_018062.4(FANCL):c.97-11A>G rs201875132 0.00016
NM_022455.5(NSD1):c.7421A>C (p.Gln2474Pro) rs202220730 0.00016
NM_024408.4(NOTCH2):c.2480-4C>G rs201770901 0.00016
NM_025074.7(FRAS1):c.4308+10G>T rs146718957 0.00016
NM_025074.7(FRAS1):c.687+20A>G rs779551290 0.00016
NM_170606.3(KMT2C):c.10980G>A (p.Ser3660=) rs201190450 0.00016
NM_000214.3(JAG1):c.2497G>A (p.Ala833Thr) rs574205422 0.00015
NM_001018115.3(FANCD2):c.4206A>G (p.Gln1402=) rs745841768 0.00015
NM_001018115.3(FANCD2):c.888+9T>C rs777620616 0.00015
NM_001110792.2(MECP2):c.1293C>T (p.Pro431=) rs199540575 0.00015
NM_001113378.2(FANCI):c.446-6T>G rs377255054 0.00015
NM_004380.3(CREBBP):c.2846C>T (p.Pro949Leu) rs147083140 0.00015
NM_004380.3(CREBBP):c.833A>C (p.Gln278Pro) rs577305576 0.00015
NM_004525.3(LRP2):c.12461+20C>T rs368683982 0.00015
NM_004525.3(LRP2):c.6040+9T>C rs185280219 0.00015
NM_004525.3(LRP2):c.7743G>T (p.Thr2581=) rs140698184 0.00015
NM_004560.4(ROR2):c.2613A>C (p.Thr871=) rs751280391 0.00015
NM_006306.4(SMC1A):c.1098G>A (p.Thr366=) rs140585416 0.00015
NM_024675.4(PALB2):c.1794G>A (p.Leu598=) rs182494675 0.00015
NM_032444.4(SLX4):c.5403G>C (p.Leu1801=) rs577770118 0.00015
NM_001018115.3(FANCD2):c.571-19A>T rs141566218 0.00014
NM_001379200.1(TBX1):c.1178C>A (p.Pro393Gln) rs918788695 0.00014
NM_004525.3(LRP2):c.7296A>G (p.Arg2432=) rs370035430 0.00014
NM_006662.3(SRCAP):c.3676C>G (p.Leu1226Val) rs201583296 0.00014
NM_006662.3(SRCAP):c.492+12G>A rs200528955 0.00014
NM_006662.3(SRCAP):c.7536A>C (p.Thr2512=) rs777936953 0.00014
NM_006766.5(KAT6A):c.600+5G>T rs138578452 0.00014
NM_012330.4(KAT6B):c.1994-20C>T rs373239366 0.00014
NM_012330.4(KAT6B):c.4659C>T (p.Ser1553=) rs147158118 0.00014
NM_018062.4(FANCL):c.1021-6T>C rs377052216 0.00014
NM_022455.5(NSD1):c.2339C>T (p.Ser780Leu) rs201327209 0.00014
NM_023110.3(FGFR1):c.2298C>T (p.Tyr766=) rs376173540 0.00014
NM_024757.5(EHMT1):c.2025C>T (p.Ala675=) rs367662089 0.00014
NM_025074.7(FRAS1):c.4362C>T (p.Ile1454=) rs367736746 0.00014
NM_175875.5(SIX5):c.1042C>T (p.Leu348=) rs779368770 0.00014
NM_175875.5(SIX5):c.492C>T (p.Tyr164=) rs372293937 0.00014
NM_000168.6(GLI3):c.168C>T (p.Asn56=) rs376845825 0.00013
NM_000214.3(JAG1):c.526G>A (p.Val176Ile) rs199674138 0.00013
NM_001018115.3(FANCD2):c.206-20C>A rs200170760 0.00013
NM_001018115.3(FANCD2):c.2754A>G (p.Leu918=) rs149395670 0.00013
NM_002834.5(PTPN11):c.1746C>T (p.Asn582=) rs397516800 0.00013
NM_003482.4(KMT2D):c.15558C>T (p.His5186=) rs2024 0.00013
NM_004560.4(ROR2):c.1524G>A (p.Thr508=) rs114395148 0.00013
NM_012431.3(SEMA3E):c.1668-16A>G rs371322188 0.00013
NM_015910.7(WDPCP):c.1435+19T>C rs367947125 0.00013
NM_017780.4(CHD7):c.5607+11G>A rs369304706 0.00013
NM_017780.4(CHD7):c.7119C>T (p.Ser2373=) rs201046385 0.00013
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=) rs202228407 0.00013
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys) rs374162669 0.00012
NM_000135.4(FANCA):c.1776+11G>A rs377308050 0.00012
NM_000141.5(FGFR2):c.748+18C>T rs377269009 0.00012
NM_001101.5(ACTB):c.453C>T (p.Ile151=) rs150837984 0.00012
NM_001330078.2(NRXN1):c.3365-109899A>G rs562219421 0.00012
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile) rs370864592 0.00012
NM_004525.3(LRP2):c.4691+16A>T rs201303681 0.00012
NM_004525.3(LRP2):c.9177C>T (p.Asp3059=) rs763193608 0.00012
NM_004525.3(LRP2):c.975G>A (p.Pro325=) rs368492082 0.00012
NM_013275.6(ANKRD11):c.1577A>T (p.His526Leu) rs374369335 0.00012
NM_015910.7(WDPCP):c.385-12A>G rs528402153 0.00012
NM_017780.4(CHD7):c.1203A>G (p.Ala401=) rs147960212 0.00012
NM_017780.4(CHD7):c.1245G>A (p.Pro415=) rs745900311 0.00012
NM_020297.4(ABCC9):c.2339+13A>G rs189255166 0.00012
NM_022455.5(NSD1):c.7933C>T (p.Leu2645=) rs61730553 0.00012
NM_025074.7(FRAS1):c.10008G>A (p.Pro3336=) rs76120498 0.00012
NM_025074.7(FRAS1):c.1255+10T>C rs540508144 0.00012
NM_170707.4(LMNA):c.811-12C>T rs372962650 0.00012
NM_207361.6(FREM2):c.7216-4G>A rs373594819 0.00012
NM_000135.4(FANCA):c.1471-20G>A rs374579239 0.00011
NM_000135.4(FANCA):c.1683G>A (p.Thr561=) rs143451067 0.00011
NM_000136.3(FANCC):c.1534-9T>C rs536836859 0.00011
NM_000136.3(FANCC):c.250+16G>A rs371993188 0.00011
NM_000138.5(FBN1):c.1323A>G (p.Pro441=) rs202030761 0.00011
NM_000168.6(GLI3):c.367+20G>A rs371365628 0.00011
NM_000168.6(GLI3):c.411T>C (p.Ile137=) rs200203051 0.00011
NM_000214.3(JAG1):c.1885+12T>C rs377670685 0.00011
NM_001018115.3(FANCD2):c.4281+81G>A rs145889419 0.00011
NM_001197104.2(KMT2A):c.9947C>T (p.Ala3316Val) rs201447376 0.00011
NM_001291303.3(FAT4):c.14935G>A (p.Ala4979Thr) rs17009858 0.00011
NM_002834.5(PTPN11):c.1224+15G>A rs373271861 0.00011
NM_002834.5(PTPN11):c.558G>T (p.Arg186=) rs200920312 0.00011
NM_004187.5(KDM5C):c.2112G>A (p.Glu704=) rs782570746 0.00011
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) rs121964872 0.00011
NM_004525.3(LRP2):c.12988+18T>C rs201970419 0.00011
NM_004525.3(LRP2):c.1342-13G>A rs372705473 0.00011
NM_004525.3(LRP2):c.8277C>T (p.Arg2759=) rs546544412 0.00011
NM_004560.4(ROR2):c.2586C>T (p.His862=) rs56158629 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_006662.3(SRCAP):c.8760A>G (p.Gly2920=) rs199928454 0.00011
NM_012330.4(KAT6B):c.5679G>A (p.Pro1893=) rs370977553 0.00011
NM_014795.4(ZEB2):c.1840C>T (p.Leu614=) rs145201706 0.00011
NM_017780.4(CHD7):c.2109T>G (p.Pro703=) rs192950146 0.00011
NM_017780.4(CHD7):c.4653G>A (p.Leu1551=) rs368093874 0.00011
NM_024675.4(PALB2):c.1455T>G (p.Thr485=) rs566105533 0.00011
NM_025074.7(FRAS1):c.2070C>T (p.Ile690=) rs531800217 0.00011
NM_025074.7(FRAS1):c.783C>T (p.Cys261=) rs374802344 0.00011
NM_032444.4(SLX4):c.2241C>T (p.Ala747=) rs143790956 0.00011
NM_033360.4(KRAS):c.90C>T (p.Asp30=) rs113623140 0.00011
NM_000135.4(FANCA):c.1755C>G (p.Pro585=) rs144704750 0.00010
NM_000141.5(FGFR2):c.454+15G>A rs200275522 0.00010
NM_000214.3(JAG1):c.1570-20G>A rs140937305 0.00010
NM_000214.3(JAG1):c.1608C>T (p.Asn536=) rs200648453 0.00010
NM_000264.5(PTCH1):c.1809C>T (p.Arg603=) rs145690756 0.00010
NM_001018113.3(FANCB):c.504C>G (p.Ser168=) rs373738816 0.00010
NM_001083962.2(TCF4):c.923-17G>T rs550597992 0.00010
NM_001110792.2(MECP2):c.1196C>T (p.Pro399Leu) rs63390262 0.00010
NM_002485.5(NBN):c.-2C>T rs202104448 0.00010
NM_004380.3(CREBBP):c.5271C>T (p.Gly1757=) rs190121951 0.00010
NM_004525.3(LRP2):c.4045+20T>C rs202173572 0.00010
NM_004560.4(ROR2):c.97+7T>C rs377341845 0.00010
NM_004629.2(FANCG):c.729T>C (p.Pro243=) rs199736443 0.00010
NM_005055.5(RAPSN):c.831C>T (p.Thr277=) rs148078235 0.00010
NM_005120.3(MED12):c.3942T>C (p.Ser1314=) rs3810670 0.00010
NM_012330.4(KAT6B):c.3337T>C (p.Leu1113=) rs751986009 0.00010
NM_012330.4(KAT6B):c.699A>G (p.Glu233=) rs188787788 0.00010
NM_017780.4(CHD7):c.303G>A (p.Pro101=) rs373868449 0.00010
NM_017780.4(CHD7):c.6108G>A (p.Pro2036=) rs372755547 0.00010
NM_023110.3(FGFR1):c.2331C>G (p.Ser777=) rs763571736 0.00010
NM_025074.7(FRAS1):c.4339C>T (p.Leu1447=) rs779095746 0.00010
NM_030928.4(CDT1):c.999G>A (p.Pro333=) rs202026460 0.00010
NM_032444.4(SLX4):c.1563T>C (p.Pro521=) rs146360238 0.00010
NM_032444.4(SLX4):c.1602C>T (p.Ser534=) rs201754095 0.00010
NM_080680.3(COL11A2):c.4587G>A (p.Pro1529=) rs765931315 0.00010
NM_000059.4(BRCA2):c.4656T>C (p.Gly1552=) rs41293491 0.00009
NM_000135.4(FANCA):c.1776+13C>T rs371272310 0.00009
NM_000135.4(FANCA):c.1900+7T>A rs377401016 0.00009
NM_000135.4(FANCA):c.3810G>A (p.Ser1270=) rs138144828 0.00009
NM_000136.3(FANCC):c.251-20T>C rs370867462 0.00009
NM_000138.5(FBN1):c.7266A>G (p.Arg2422=) rs532737688 0.00009
NM_000168.6(GLI3):c.288C>T (p.His96=) rs200905584 0.00009
NM_000168.6(GLI3):c.4533C>T (p.Asp1511=) rs145513625 0.00009
NM_000214.3(JAG1):c.3567G>A (p.Thr1189=) rs373846021 0.00009
NM_000918.4(P4HB):c.430G>A (p.Ala144Thr) rs138621837 0.00009
NM_001018115.3(FANCD2):c.3165C>T (p.Tyr1055=) rs375929975 0.00009
NM_001113378.2(FANCI):c.165C>T (p.Pro55=) rs139039885 0.00009
NM_001197104.2(KMT2A):c.6158+9C>T rs200249108 0.00009
NM_001360.3(DHCR7):c.690G>C (p.Gly230=) rs773393807 0.00009
NM_001371986.1(UNC80):c.9078G>A (p.Ser3026=) rs564176510 0.00009
NM_002968.3(SALL1):c.1227C>T (p.Ile409=) rs368412604 0.00009
NM_003070.5(SMARCA2):c.680A>C (p.Gln227Pro) rs940521825 0.00009
NM_003392.7(WNT5A):c.502G>A (p.Ala168Thr) rs572796263 0.00009
NM_004333.6(BRAF):c.1993-11T>C rs750297886 0.00009
NM_004333.6(BRAF):c.399A>G (p.Ser133=) rs397507463 0.00009
NM_004380.3(CREBBP):c.1143G>A (p.Ser381=) rs147342740 0.00009
NM_004380.3(CREBBP):c.2118A>G (p.Gly706=) rs778065124 0.00009
NM_004380.3(CREBBP):c.3204C>T (p.Asn1068=) rs150189749 0.00009
NM_004380.3(CREBBP):c.681T>C (p.Pro227=) rs201193684 0.00009
NM_004525.3(LRP2):c.12989-10C>T rs186870588 0.00009
NM_004525.3(LRP2):c.3191-17G>A rs763192172 0.00009
NM_004525.3(LRP2):c.4294+20G>A rs377152498 0.00009
NM_004525.3(LRP2):c.4755C>T (p.Asp1585=) rs141871628 0.00009
NM_004525.3(LRP2):c.7878G>A (p.Gln2626=) rs199593393 0.00009
NM_005026.5(PIK3CD):c.2997+10G>A rs377699493 0.00009
NM_006662.3(SRCAP):c.3183T>C (p.Ile1061=) rs1312053021 0.00009
NM_006662.3(SRCAP):c.4170C>T (p.Pro1390=) rs769774517 0.00009
NM_006662.3(SRCAP):c.6664G>A (p.Val2222Met) rs201837401 0.00009
NM_006662.3(SRCAP):c.7777C>T (p.Leu2593=) rs200333706 0.00009
NM_012330.4(KAT6B):c.147A>G (p.Glu49=) rs1041827351 0.00009
NM_012330.4(KAT6B):c.5433G>A (p.Pro1811=) rs201084874 0.00009
NM_012431.3(SEMA3E):c.1366+11G>A rs369202554 0.00009
NM_012431.3(SEMA3E):c.651C>T (p.Asp217=) rs766680673 0.00009
NM_017780.4(CHD7):c.8661G>A (p.Pro2887=) rs148517660 0.00009
NM_022455.5(NSD1):c.6795C>T (p.Ser2265=) rs148585227 0.00009
NM_022455.5(NSD1):c.7275A>G (p.Leu2425=) rs139879749 0.00009
NM_023110.3(FGFR1):c.921T>C (p.Tyr307=) rs377010221 0.00009
NM_024408.4(NOTCH2):c.1681+9C>A rs192886452 0.00009
NM_025074.7(FRAS1):c.10540+15G>A rs766110910 0.00009
NM_025074.7(FRAS1):c.1716C>T (p.Ser572=) rs756854613 0.00009
NM_030662.4(MAP2K2):c.919+4C>T rs763424788 0.00009
NM_032444.4(SLX4):c.1641G>A (p.Thr547=) rs200497436 0.00009
NM_147127.5(EVC2):c.2077G>A (p.Val693Ile) rs199824658 0.00009
NM_152564.5(VPS13B):c.10868-7G>A rs376141593 0.00009
NM_181486.4(TBX5):c.147+9A>T rs375693592 0.00009
NM_000136.3(FANCC):c.1533+13G>A rs200515307 0.00008
NM_000214.3(JAG1):c.1720+17G>A rs371096301 0.00008
NM_001018113.3(FANCB):c.330A>C (p.Leu110=) rs201633684 0.00008
NM_001018115.3(FANCD2):c.439-18C>A rs184060118 0.00008
NM_001113378.2(FANCI):c.669+14A>G rs369804967 0.00008
NM_001347721.2(DYRK1A):c.2049T>C (p.Phe683=) rs375130004 0.00008
NM_001372066.1(TFAP2A):c.1215C>T (p.Thr405=) rs201494266 0.00008
NM_002968.3(SALL1):c.3330T>C (p.Ser1110=) rs374166565 0.00008
NM_004525.3(LRP2):c.10413C>T (p.Thr3471=) rs781066641 0.00008
NM_004525.3(LRP2):c.13519-18T>C rs1031924195 0.00008
NM_004525.3(LRP2):c.3333C>T (p.Asp1111=) rs372322747 0.00008
NM_004525.3(LRP2):c.909C>T (p.Thr303=) rs375394006 0.00008
NM_005982.4(SIX1):c.474C>T (p.Ala158=) rs199743522 0.00008
NM_006662.3(SRCAP):c.3542-5T>C rs141077295 0.00008
NM_017780.4(CHD7):c.3765G>A (p.Pro1255=) rs371633293 0.00008
NM_017780.4(CHD7):c.3778+17C>T rs111863846 0.00008
NM_017780.4(CHD7):c.4644+17A>G rs376953317 0.00008
NM_018486.3(HDAC8):c.384C>T (p.Asp128=) rs1250641302 0.00008
NM_021922.3(FANCE):c.1238-10C>T rs765940689 0.00008
NM_022455.5(NSD1):c.7350T>C (p.Asn2450=) rs200241618 0.00008
NM_023110.3(FGFR1):c.1888C>T (p.Leu630=) rs746123129 0.00008
NM_032444.4(SLX4):c.5229G>A (p.Ser1743=) rs140231739 0.00008
NM_170784.3(MKKS):c.1356T>C (p.Ser452=) rs201977053 0.00008
NM_000135.4(FANCA):c.3420C>T (p.Asn1140=) rs369765552 0.00007
NM_000168.6(GLI3):c.1740C>T (p.His580=) rs146154710 0.00007
NM_000168.6(GLI3):c.4524C>T (p.Ala1508=) rs201112421 0.00007
NM_000168.6(GLI3):c.528C>T (p.Ile176=) rs539622820 0.00007
NM_000214.3(JAG1):c.1344C>T (p.Asp448=) rs754081766 0.00007
NM_000503.6(EYA1):c.1377T>A (p.Ala459=) rs112593082 0.00007
NM_000540.3(RYR1):c.10476A>G (p.Glu3492=) rs767496164 0.00007
NM_000540.3(RYR1):c.8342T>C (p.Ile2781Thr) rs767805554 0.00007
NM_002968.3(SALL1):c.1953C>T (p.Pro651=) rs147169088 0.00007
NM_002968.3(SALL1):c.3084A>G (p.Pro1028=) rs377643763 0.00007
NM_004333.6(BRAF):c.1694+13C>T rs368578780 0.00007
NM_004380.3(CREBBP):c.1633T>C (p.Leu545=) rs371285951 0.00007
NM_004380.3(CREBBP):c.2439G>A (p.Pro813=) rs763702839 0.00007
NM_004380.3(CREBBP):c.3370-17A>T rs767500889 0.00007
NM_004560.4(ROR2):c.2604C>T (p.Ser868=) rs369150056 0.00007
NM_004560.4(ROR2):c.485A>G (p.His162Arg) rs569718323 0.00007
NM_006306.4(SMC1A):c.1911+12C>G rs200324148 0.00007
NM_006306.4(SMC1A):c.2562+17T>G rs782781158 0.00007
NM_006306.4(SMC1A):c.3438-18C>T rs781873202 0.00007
NM_006662.3(SRCAP):c.4872A>G (p.Ser1624=) rs377094082 0.00007
NM_012330.4(KAT6B):c.3477C>G (p.Pro1159=) rs145574734 0.00007
NM_012330.4(KAT6B):c.4077G>A (p.Glu1359=) rs560274634 0.00007
NM_012330.4(KAT6B):c.4478C>T (p.Ala1493Val) rs369068910 0.00007
NM_015910.7(WDPCP):c.2178C>T (p.Asp726=) rs367690400 0.00007
NM_017780.4(CHD7):c.4659T>A (p.Ile1553=) rs748644473 0.00007
NM_017780.4(CHD7):c.729C>T (p.Pro243=) rs371398600 0.00007
NM_020297.4(ABCC9):c.142+10C>A rs138917284 0.00007
NM_022455.5(NSD1):c.1095C>T (p.Tyr365=) rs200080728 0.00007
NM_022455.5(NSD1):c.3089T>C (p.Leu1030Ser) rs200856103 0.00007
NM_022455.5(NSD1):c.3090G>T (p.Leu1030Phe) rs201860097 0.00007
NM_023110.3(FGFR1):c.359-13C>G rs376369060 0.00007
NM_024408.4(NOTCH2):c.3912C>T (p.Phe1304=) rs764301517 0.00007
NM_024675.4(PALB2):c.2032C>T (p.Leu678=) rs376189676 0.00007
NM_025074.7(FRAS1):c.8064C>T (p.Ser2688=) rs371145937 0.00007
NM_032444.4(SLX4):c.1706C>T (p.Pro569Leu) rs534528576 0.00007
NM_032444.4(SLX4):c.2034T>G (p.Val678=) rs200278096 0.00007
NM_032444.4(SLX4):c.4344C>T (p.Pro1448=) rs368388100 0.00007
NM_170707.4(LMNA):c.1488+7G>A rs374209100 0.00007
NM_175875.5(SIX5):c.603C>T (p.Gly201=) rs202164217 0.00007
NM_207361.6(FREM2):c.7359G>A (p.Val2453=) rs115054860 0.00007
NM_000135.4(FANCA):c.1734C>T (p.Tyr578=) rs762647468 0.00006
NM_000135.4(FANCA):c.1901-10C>T rs766654290 0.00006
NM_000135.4(FANCA):c.2292G>A (p.Arg764=) rs56267906 0.00006
NM_000135.4(FANCA):c.2778+12T>C rs775047268 0.00006
NM_000135.4(FANCA):c.3408+16A>G rs373636902 0.00006
NM_000141.5(FGFR2):c.420G>A (p.Ala140=) rs765024365 0.00006
NM_000168.6(GLI3):c.1800G>A (p.Thr600=) rs138445547 0.00006
NM_000168.6(GLI3):c.240C>T (p.Asp80=) rs149400571 0.00006
NM_000168.6(GLI3):c.4089C>T (p.Cys1363=) rs202059951 0.00006
NM_000214.3(JAG1):c.1383C>T (p.Asp461=) rs140604589 0.00006
NM_000214.3(JAG1):c.1655C>T (p.Pro552Leu) rs201785359 0.00006
NM_000214.3(JAG1):c.1720+16C>T rs374498402 0.00006
NM_000503.6(EYA1):c.399G>A (p.Pro133=) rs146356299 0.00006
NM_000503.6(EYA1):c.639+17G>C rs199791692 0.00006
NM_000540.3(RYR1):c.10803C>T (p.Ala3601=) rs141542477 0.00006
NM_000540.3(RYR1):c.1479A>C (p.Leu493=) rs748552245 0.00006
NM_000540.3(RYR1):c.7092C>T (p.Phe2364=) rs369456396 0.00006
NM_000540.3(RYR1):c.7560C>T (p.His2520=) rs749322590 0.00006
NM_001018115.3(FANCD2):c.889-9T>A rs767122938 0.00006
NM_001113378.2(FANCI):c.1797T>C (p.Ala599=) rs563218968 0.00006
NM_001113378.2(FANCI):c.2890-19G>A rs758850736 0.00006
NM_001197104.2(KMT2A):c.9342A>C (p.Thr3114=) rs782427944 0.00006
NM_001366722.1(GRIP1):c.1791A>G (p.Gly597=) rs768730046 0.00006
NM_001372066.1(TFAP2A):c.51+20G>T rs369679945 0.00006
NM_001374828.1(ARID1B):c.4674G>A (p.Pro1558=) rs566865279 0.00006
NM_001379081.2(FREM1):c.4983T>A (p.Pro1661=) rs111333359 0.00006
NM_001453.3(FOXC1):c.351C>T (p.Asp117=) rs1391853754 0.00006
NM_001854.4(COL11A1):c.4032+16A>G rs200202502 0.00006
NM_002834.5(PTPN11):c.392A>G (p.Lys131Arg) rs397516805 0.00006
NM_002834.5(PTPN11):c.616T>C (p.Leu206=) rs78376169 0.00006
NM_002968.3(SALL1):c.351C>T (p.Asn117=) rs145806303 0.00006
NM_002968.3(SALL1):c.618G>A (p.Ala206=) rs773443491 0.00006
NM_004153.4(ORC1):c.1745A>G (p.Gln582Arg) rs547441862 0.00006
NM_004260.4(RECQL4):c.1170T>C (p.Phe390=) rs768991485 0.00006
NM_004333.6(BRAF):c.504+19C>T rs780617193 0.00006
NM_004360.5(CDH1):c.48+15_48+16del rs730881655 0.00006
NM_004380.3(CREBBP):c.435C>T (p.Pro145=) rs201435679 0.00006
NM_004380.3(CREBBP):c.4956C>T (p.Pro1652=) rs139365408 0.00006
NM_004525.3(LRP2):c.10314A>G (p.Gly3438=) rs368626587 0.00006
NM_004525.3(LRP2):c.13728+12C>T rs368463648 0.00006
NM_004525.3(LRP2):c.2886G>C (p.Ser962=) rs138299719 0.00006
NM_004525.3(LRP2):c.3123T>C (p.Asn1041=) rs1028631475 0.00006
NM_004525.3(LRP2):c.4524C>T (p.Ile1508=) rs376111498 0.00006
NM_004560.4(ROR2):c.1863G>A (p.Val621=) rs778321761 0.00006
NM_004958.4(MTOR):c.6810+12G>A rs373052413 0.00006
NM_006306.4(SMC1A):c.372G>C (p.Leu124Phe) rs148835205 0.00006
NM_006662.3(SRCAP):c.1614C>T (p.Ser538=) rs374756213 0.00006
NM_006662.3(SRCAP):c.5322G>A (p.Ser1774=) rs773168431 0.00006
NM_006662.3(SRCAP):c.5658+15C>T rs775744605 0.00006
NM_006662.3(SRCAP):c.8508T>G (p.Thr2836=) rs758398423 0.00006
NM_012330.4(KAT6B):c.519G>A (p.Arg173=) rs374557982 0.00006
NM_012330.4(KAT6B):c.846+16G>A rs374506959 0.00006
NM_012431.3(SEMA3E):c.1366+10C>T rs144608744 0.00006
NM_012431.3(SEMA3E):c.999-16T>C rs376833826 0.00006
NM_015443.4(KANSL1):c.1527T>G (p.Asp509Glu) rs527948436 0.00006
NM_015443.4(KANSL1):c.2230G>C (p.Asp744His) rs200103894 0.00006
NM_015443.4(KANSL1):c.3053C>T (p.Thr1018Ile) rs145863194 0.00006
NM_015443.4(KANSL1):c.3306G>A (p.Pro1102=) rs143746890 0.00006
NM_015443.4(KANSL1):c.729A>G (p.Gln243=) rs775976415 0.00006
NM_015570.4(AUTS2):c.979C>T (p.Arg327Cys) rs141599415 0.00006
NM_017780.4(CHD7):c.3523-12G>A rs373865383 0.00006
NM_017780.4(CHD7):c.381T>C (p.Pro127=) rs373676882 0.00006
NM_017780.4(CHD7):c.510G>A (p.Pro170=) rs748841915 0.00006
NM_017780.4(CHD7):c.7863G>A (p.Gln2621=) rs749381782 0.00006
NM_017780.4(CHD7):c.7989G>A (p.Ala2663=) rs767067759 0.00006
NM_021922.3(FANCE):c.901-20C>T rs754828130 0.00006
NM_021922.3(FANCE):c.954A>G (p.Glu318=) rs149719310 0.00006
NM_021922.3(FANCE):c.970-17C>A rs758179752 0.00006
NM_023110.3(FGFR1):c.1285-15C>T rs760069564 0.00006
NM_023110.3(FGFR1):c.2049-13C>T rs756845879 0.00006
NM_024408.4(NOTCH2):c.1803C>T (p.Gly601=) rs377566312 0.00006
NM_024408.4(NOTCH2):c.3462G>A (p.Ala1154=) rs146593279 0.00006
NM_024675.4(PALB2):c.1935G>A (p.Glu645=) rs141707455 0.00006
NM_024675.4(PALB2):c.3297G>A (p.Thr1099=) rs45565738 0.00006
NM_024675.4(PALB2):c.765T>C (p.Asp255=) rs45465299 0.00006
NM_025074.7(FRAS1):c.1072-5C>T rs570183677 0.00006
NM_032444.4(SLX4):c.2898G>A (p.Gln966=) rs748700450 0.00006
NM_032444.4(SLX4):c.4335G>C (p.Arg1445=) rs139377113 0.00006
NM_033360.4(KRAS):c.4+5G>A rs201789109 0.00006
NM_181486.4(TBX5):c.1476C>T (p.Gly492=) rs369034176 0.00006
NM_000135.4(FANCA):c.2317-8C>T rs753766357 0.00005
NM_000138.5(FBN1):c.346+16C>T rs369090026 0.00005
NM_000142.5(FGFR3):c.1827C>G (p.Ala609=) rs750472969 0.00005
NM_000168.6(GLI3):c.1365C>T (p.Pro455=) rs544431683 0.00005
NM_000503.6(EYA1):c.1530G>A (p.Ala510=) rs147434089 0.00005
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn) rs199510538 0.00005
NM_001018115.3(FANCD2):c.2022-4G>A rs748941966 0.00005
NM_001018115.3(FANCD2):c.3850-17G>T rs369702202 0.00005
NM_001113378.2(FANCI):c.1263C>T (p.Leu421=) rs376956791 0.00005
NM_001113378.2(FANCI):c.2946C>T (p.Ala982=) rs762453164 0.00005
NM_001113378.2(FANCI):c.3007-7A>G rs778906473 0.00005
NM_001113378.2(FANCI):c.534C>T (p.Thr178=) rs754733731 0.00005
NM_001122681.2(SH3BP2):c.247C>A (p.Arg83=) rs139626310 0.00005
NM_001360.3(DHCR7):c.303C>T (p.Thr101=) rs777709295 0.00005
NM_001360.3(DHCR7):c.964-5C>T rs767108226 0.00005
NM_004380.3(CREBBP):c.6195C>T (p.Ser2065=) rs374150949 0.00005
NM_004525.3(LRP2):c.1043-19T>C rs374755698 0.00005
NM_004525.3(LRP2):c.5367G>A (p.Glu1789=) rs528249827 0.00005
NM_004525.3(LRP2):c.9312C>T (p.Ser3104=) rs538919316 0.00005
NM_004525.3(LRP2):c.9981C>G (p.Ala3327=) rs149558767 0.00005
NM_004560.4(ROR2):c.1712A>G (p.His571Arg) rs376970201 0.00005
NM_004629.2(FANCG):c.1158C>G (p.Pro386=) rs201041980 0.00005
NM_006306.4(SMC1A):c.2646G>A (p.Ser882=) rs1193658492 0.00005
NM_007294.4(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102 0.00005
NM_012330.4(KAT6B):c.3801C>T (p.Thr1267=) rs375206291 0.00005
NM_012330.4(KAT6B):c.4878C>T (p.Tyr1626=) rs146568876 0.00005
NM_015910.7(WDPCP):c.1793G>A (p.Gly598Asp) rs771029060 0.00005
NM_015910.7(WDPCP):c.825+19T>G rs780109239 0.00005
NM_017780.4(CHD7):c.2675G>A (p.Arg892His) rs200188105 0.00005
NM_017780.4(CHD7):c.5301-13T>C rs368716487 0.00005
NM_017780.4(CHD7):c.5745G>A (p.Arg1915=) rs376993840 0.00005
NM_021922.3(FANCE):c.210G>A (p.Glu70=) rs1008512809 0.00005
NM_032444.4(SLX4):c.237T>C (p.Ala79=) rs375620914 0.00005
NM_207361.6(FREM2):c.4569T>C (p.Arg1523=) rs146585542 0.00005
NM_207361.6(FREM2):c.6465T>C (p.Asp2155=) rs373878188 0.00005
NM_000135.4(FANCA):c.2602-16T>G rs762865666 0.00004
NM_000135.4(FANCA):c.3239+7C>T rs775293779 0.00004
NM_000138.5(FBN1):c.3837A>G (p.Val1279=) rs59007872 0.00004
NM_000168.6(GLI3):c.2307G>A (p.Pro769=) rs766163765 0.00004
NM_000168.6(GLI3):c.2706C>T (p.Ala902=) rs779103816 0.00004
NM_000214.3(JAG1):c.1349-7T>A rs554200350 0.00004
NM_000214.3(JAG1):c.400T>C (p.Leu134=) rs140511204 0.00004
NM_000264.5(PTCH1):c.584+10G>A rs765713791 0.00004
NM_000540.3(RYR1):c.12813C>T (p.Gly4271=) rs750757411 0.00004
NM_001018115.3(FANCD2):c.2058G>A (p.Leu686=) rs773593671 0.00004
NM_001018115.3(FANCD2):c.695+19A>G rs369890094 0.00004
NM_001101.5(ACTB):c.36C>T (p.Asn12=) rs764325153 0.00004
NM_001110792.2(MECP2):c.1302C>T (p.Gly434=) rs61753970 0.00004
NM_001113378.2(FANCI):c.2334C>T (p.Tyr778=) rs139857614 0.00004
NM_001113378.2(FANCI):c.993G>A (p.Lys331=) rs146916445 0.00004
NM_001282531.3(ADNP):c.393G>A (p.Pro131=) rs201360495 0.00004
NM_001291415.2(KDM6A):c.3423C>T (p.Asp1141=) rs781105490 0.00004
NM_001365999.1(SZT2):c.3355C>G (p.Pro1119Ala) rs137956992 0.00004
NM_001372066.1(TFAP2A):c.539-19C>T rs375564449 0.00004
NM_001379081.2(FREM1):c.3378A>G (p.Thr1126=) rs202213402 0.00004
NM_002834.5(PTPN11):c.14+11C>A rs1486505121 0.00004
NM_002880.4(RAF1):c.435G>A (p.Thr145=) rs371565419 0.00004
NM_002968.3(SALL1):c.2565T>G (p.Pro855=) rs778734691 0.00004
NM_002968.3(SALL1):c.3231C>T (p.Pro1077=) rs148808830 0.00004
NM_003072.5(SMARCA4):c.3552G>A (p.Leu1184=) rs368250779 0.00004
NM_003392.7(WNT5A):c.6+18T>A rs192224802 0.00004
NM_003482.4(KMT2D):c.14574G>A (p.Lys4858=) rs562830182 0.00004
NM_004333.6(BRAF):c.915G>A (p.Ala305=) rs145675911 0.00004
NM_004360.5(CDH1):c.84C>T (p.Cys28=) rs587780789 0.00004
NM_004380.3(CREBBP):c.3060+9C>T rs372291994 0.00004
NM_004380.3(CREBBP):c.6795G>A (p.Ala2265=) rs748072121 0.00004
NM_004380.3(CREBBP):c.7236G>A (p.Leu2412=) rs745992971 0.00004
NM_004525.3(LRP2):c.10572-13G>A rs372963344 0.00004
NM_004525.3(LRP2):c.11635+17C>T rs199625884 0.00004
NM_004525.3(LRP2):c.11850C>T (p.Ala3950=) rs765289317 0.00004
NM_004525.3(LRP2):c.13268-14A>G rs199622240 0.00004
NM_004525.3(LRP2):c.13305C>T (p.Val4435=) rs375801132 0.00004
NM_004525.3(LRP2):c.3312C>T (p.His1104=) rs188152163 0.00004
NM_004525.3(LRP2):c.378G>A (p.Arg126=) rs753521481 0.00004
NM_004560.4(ROR2):c.1998C>T (p.Tyr666=) rs773389306 0.00004
NM_004560.4(ROR2):c.2724C>T (p.Thr908=) rs374824850 0.00004
NM_004560.4(ROR2):c.888C>T (p.Asp296=) rs755825636 0.00004
NM_004629.2(FANCG):c.77A>G (p.Gln26Arg) rs200677800 0.00004
NM_004629.2(FANCG):c.795A>T (p.Ala265=) rs537570311 0.00004
NM_004985.5(KRAS):c.451-5652C>T rs727505314 0.00004
NM_005236.3(ERCC4):c.1830C>T (p.Tyr610=) rs763332387 0.00004
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser) rs397517144 0.00004
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838 0.00004
NM_005633.4(SOS1):c.1905C>T (p.Cys635=) rs762900789 0.00004
NM_005732.4(RAD50):c.1602A>G (p.Thr534=) rs150348197 0.00004
NM_005857.5(ZMPSTE24):c.1338T>C (p.Pro446=) rs370202496 0.00004
NM_005982.4(SIX1):c.816C>T (p.Leu272=) rs750377629 0.00004
NM_006306.4(SMC1A):c.109+13T>G rs782668468 0.00004
NM_006306.4(SMC1A):c.854+17G>A rs781860125 0.00004
NM_006662.3(SRCAP):c.1350G>A (p.Gln450=) rs146916680 0.00004
NM_006662.3(SRCAP):c.2559C>T (p.Tyr853=) rs769009513 0.00004
NM_006662.3(SRCAP):c.4680G>A (p.Pro1560=) rs146141702 0.00004
NM_006662.3(SRCAP):c.8535C>T (p.Asp2845=) rs778040460 0.00004
NM_006662.3(SRCAP):c.8958T>C (p.Thr2986=) rs368889629 0.00004
NM_006941.4(SOX10):c.975C>T (p.Ala325=) rs760496644 0.00004
NM_007294.4(BRCA1):c.-19-3A>G rs273898669 0.00004
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682 0.00004
NM_007294.4(BRCA1):c.427G>A (p.Glu143Lys) rs80356991 0.00004
NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg) rs397517231 0.00004
NM_012330.4(KAT6B):c.3216A>G (p.Glu1072=) rs776709807 0.00004
NM_012330.4(KAT6B):c.6153C>T (p.Pro2051=) rs544887456 0.00004
NM_015100.4(POGZ):c.3279A>T (p.Leu1093=) rs567756416 0.00004
NM_015338.6(ASXL1):c.3621C>G (p.Val1207=) rs781523302 0.00004
NM_015443.4(KANSL1):c.2414T>C (p.Met805Thr) rs201526313 0.00004
NM_015443.4(KANSL1):c.2985G>A (p.Pro995=) rs371484505 0.00004
NM_017780.4(CHD7):c.2097-9G>C rs759100071 0.00004
NM_017780.4(CHD7):c.3378+18T>C rs141625014 0.00004
NM_017780.4(CHD7):c.409T>G (p.Ser137Ala) rs183761594 0.00004
NM_017780.4(CHD7):c.5029C>A (p.Arg1677=) rs777652245 0.00004
NM_017780.4(CHD7):c.5665+11A>G rs765928233 0.00004
NM_018062.4(FANCL):c.375-15T>C rs767038810 0.00004
NM_018062.4(FANCL):c.755T>G (p.Phe252Cys) rs139801716 0.00004
NM_022455.5(NSD1):c.7852G>A (p.Val2618Ile) rs373787813 0.00004
NM_023110.3(FGFR1):c.621+7G>T rs377200873 0.00004
NM_023110.3(FGFR1):c.92-14C>T rs547772178 0.00004
NM_024408.4(NOTCH2):c.1109-12A>C rs782601589 0.00004
NM_024408.4(NOTCH2):c.1158G>A (p.Lys386=) rs781863099 0.00004
NM_024408.4(NOTCH2):c.5217T>C (p.Asn1739=) rs768669808 0.00004
NM_024675.4(PALB2):c.2834+13C>A rs551516577 0.00004
NM_024675.4(PALB2):c.3252G>A (p.Ser1084=) rs141570833 0.00004
NM_024675.4(PALB2):c.900A>G (p.Thr300=) rs771660444 0.00004
NM_025074.7(FRAS1):c.7431G>A (p.Ala2477=) rs750729569 0.00004
NM_025074.7(FRAS1):c.8397G>A (p.Ser2799=) rs113839220 0.00004
NM_032444.4(SLX4):c.1764C>T (p.His588=) rs201638593 0.00004
NM_032444.4(SLX4):c.1824G>A (p.Glu608=) rs1028896815 0.00004
NM_032444.4(SLX4):c.4456A>C (p.Arg1486=) rs200536796 0.00004
NM_032444.4(SLX4):c.4740-5G>A rs372656323 0.00004
NM_032444.4(SLX4):c.5382G>A (p.Ser1794=) rs368848191 0.00004
NM_058216.3(RAD51C):c.1062A>G (p.Ala354=) rs201000407 0.00004
NM_058216.3(RAD51C):c.546T>G (p.Leu182=) rs1476282276 0.00004
NM_080680.3(COL11A2):c.2737-4C>T rs1322401943 0.00004
NM_170707.4(LMNA):c.1299C>T (p.His433=) rs61217436 0.00004
NM_175875.5(SIX5):c.15T>G (p.Pro5=) rs1366167968 0.00004
NM_000052.7(ATP7A):c.2111A>G (p.Gln704Arg) rs782577253 0.00003
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916 0.00003
NM_000135.4(FANCA):c.12G>C (p.Ser4=) rs1009539881 0.00003
NM_000135.4(FANCA):c.2964G>C (p.Leu988=) rs751495133 0.00003
NM_000135.4(FANCA):c.3349-19G>T rs377180908 0.00003
NM_000135.4(FANCA):c.3627-9C>T rs547300201 0.00003
NM_000135.4(FANCA):c.426+13C>T rs755598667 0.00003
NM_000136.3(FANCC):c.1330-6G>T rs1223668739 0.00003
NM_000138.5(FBN1):c.2658G>A (p.Pro886=) rs193922192 0.00003
NM_000141.5(FGFR2):c.1086G>A (p.Ala362=) rs151250769 0.00003
NM_000141.5(FGFR2):c.1545C>T (p.Ala515=) rs778789088 0.00003
NM_000214.3(JAG1):c.1797T>C (p.Cys599=) rs746760284 0.00003
NM_000214.3(JAG1):c.2250C>T (p.Pro750=) rs368675736 0.00003
NM_000214.3(JAG1):c.3039T>C (p.His1013=) rs770077297 0.00003
NM_000214.3(JAG1):c.3141G>A (p.Ser1047=) rs202075581 0.00003
NM_000214.3(JAG1):c.819C>T (p.His273=) rs368502056 0.00003
NM_000503.6(EYA1):c.125-13T>C rs753263675 0.00003
NM_000540.3(RYR1):c.13932G>T (p.Leu4644=) rs199698011 0.00003
NM_000540.3(RYR1):c.1925+19G>A rs764074598 0.00003
NM_001018115.3(FANCD2):c.2716-15G>A rs771386311 0.00003
NM_001018115.3(FANCD2):c.3466+9C>G rs33998487 0.00003
NM_001101.5(ACTB):c.1014C>T (p.Ser338=) rs1064790 0.00003
NM_001101.5(ACTB):c.24C>G (p.Leu8=) rs151181948 0.00003
NM_001101.5(ACTB):c.267C>T (p.Thr89=) rs760279394 0.00003
NM_001101.5(ACTB):c.363+15A>C rs772907450 0.00003
NM_001101.5(ACTB):c.429C>T (p.Tyr143=) rs375215955 0.00003
NM_001101.5(ACTB):c.858C>T (p.Asp286=) rs150105166 0.00003
NM_001113378.2(FANCI):c.2349C>T (p.Asp783=) rs768234660 0.00003
NM_001113378.2(FANCI):c.705C>T (p.Ala235=) rs542117175 0.00003
NM_001360.3(DHCR7):c.822C>T (p.Asn274=) rs139787408 0.00003
NM_001365999.1(SZT2):c.2875C>T (p.Leu959=) rs1570647334 0.00003
NM_001366722.1(GRIP1):c.162C>T (p.Val54=) rs759704197 0.00003
NM_001372066.1(TFAP2A):c.714G>A (p.Arg238=) rs761298686 0.00003
NM_001379081.2(FREM1):c.2811G>A (p.Gly937=) rs150482858 0.00003
NM_002968.3(SALL1):c.1565C>T (p.Thr522Met) rs200304033 0.00003
NM_002968.3(SALL1):c.219C>T (p.Ile73=) rs774483464 0.00003
NM_002968.3(SALL1):c.3771C>T (p.Asn1257=) rs145423593 0.00003
NM_003072.5(SMARCA4):c.2562C>T (p.Asn854=) rs369724341 0.00003
NM_003392.7(WNT5A):c.684+18C>A rs1264331427 0.00003
NM_004333.6(BRAF):c.1314+17T>C rs1057524397 0.00003
NM_004333.6(BRAF):c.2128-10_2128-9insC rs758588300 0.00003
NM_004333.6(BRAF):c.2136C>T (p.Ala712=) rs377165711 0.00003
NM_004360.5(CDH1):c.1225T>C (p.Trp409Arg) rs587778176 0.00003
NM_004380.3(CREBBP):c.2400G>A (p.Pro800=) rs756570921 0.00003
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=) rs200287696 0.00003
NM_004525.3(LRP2):c.2076A>G (p.Thr692=) rs772992405 0.00003
NM_004525.3(LRP2):c.2117-20C>T rs190077478 0.00003
NM_004525.3(LRP2):c.5535C>A (p.Ile1845=) rs772030872 0.00003
NM_004525.3(LRP2):c.6281-7C>A rs200673871 0.00003
NM_004525.3(LRP2):c.8578+19C>T rs184250625 0.00003
NM_004560.4(ROR2):c.2451C>T (p.Leu817=) rs200396791 0.00003
NM_006306.4(SMC1A):c.2059-9T>C rs782041729 0.00003
NM_006306.4(SMC1A):c.429T>C (p.Ile143=) rs782366028 0.00003
NM_006662.3(SRCAP):c.5340G>C (p.Leu1780=) rs1028599771 0.00003
NM_006662.3(SRCAP):c.5478G>C (p.Ser1826=) rs754115748 0.00003
NM_012330.4(KAT6B):c.4384C>A (p.Leu1462Ile) rs374530664 0.00003
NM_013275.6(ANKRD11):c.6085G>A (p.Val2029Ile) rs199785661 0.00003
NM_014795.4(ZEB2):c.2255C>T (p.Thr752Met) rs143438888 0.00003
NM_015443.4(KANSL1):c.1059C>A (p.Ala353=) rs761810633 0.00003
NM_015443.4(KANSL1):c.1830C>T (p.Ile610=) rs150800846 0.00003
NM_015443.4(KANSL1):c.1855C>T (p.Arg619Trp) rs141298741 0.00003
NM_015443.4(KANSL1):c.2130C>T (p.Pro710=) rs190201507 0.00003
NM_015443.4(KANSL1):c.468G>C (p.Gly156=) rs150877831 0.00003
NM_015443.4(KANSL1):c.843C>T (p.Asp281=) rs753023870 0.00003
NM_015443.4(KANSL1):c.963G>A (p.Leu321=) rs772111208 0.00003
NM_015559.3(SETBP1):c.1037C>T (p.Thr346Ile) rs557430935 0.00003
NM_017780.4(CHD7):c.4881C>T (p.His1627=) rs774433565 0.00003
NM_017780.4(CHD7):c.6468C>T (p.Val2156=) rs777858802 0.00003
NM_017780.4(CHD7):c.8610G>A (p.Ala2870=) rs375459176 0.00003
NM_018062.4(FANCL):c.471+12G>A rs369756342 0.00003
NM_021922.3(FANCE):c.1092C>T (p.Thr364=) rs776318917 0.00003
NM_022455.5(NSD1):c.6045T>C (p.Tyr2015=) rs745760201 0.00003
NM_023110.3(FGFR1):c.2106C>T (p.Pro702=) rs777061347 0.00003
NM_023110.3(FGFR1):c.2186+19C>T rs776791517 0.00003
NM_023110.3(FGFR1):c.456T>C (p.Ala152=) rs369175953 0.00003
NM_024408.4(NOTCH2):c.5214-12T>C rs770224035 0.00003
NM_024675.4(PALB2):c.1272C>T (p.Ala424=) rs754720030 0.00003
NM_032444.4(SLX4):c.2022C>T (p.Leu674=) rs139900828 0.00003
NM_032444.4(SLX4):c.4185C>T (p.Val1395=) rs993089915 0.00003
NM_032444.4(SLX4):c.4599T>C (p.Ala1533=) rs1320958776 0.00003
NM_058216.3(RAD51C):c.705+14T>C rs771168730 0.00003
NM_058216.3(RAD51C):c.905-19T>C rs368114768 0.00003
NM_170707.4(LMNA):c.1380+18G>A rs777846700 0.00003
NM_170707.4(LMNA):c.1381-13A>G rs750192865 0.00003
NM_170784.3(MKKS):c.822C>T (p.Asp274=) rs761342904 0.00003
NM_175875.5(SIX5):c.936C>T (p.Pro312=) rs374751577 0.00003
NM_207361.6(FREM2):c.219G>A (p.Val73=) rs115510540 0.00003
NM_207361.6(FREM2):c.3747C>T (p.Val1249=) rs773900493 0.00003
NM_000052.7(ATP7A):c.3522T>C (p.Asn1174=) rs1179465472 0.00002
NM_000059.4(BRCA2):c.1538A>G (p.Lys513Arg) rs28897709 0.00002
NM_000059.4(BRCA2):c.7986G>A (p.Thr2662=) rs1057522378 0.00002
NM_000135.4(FANCA):c.1236G>A (p.Ala412=) rs371993688 0.00002
NM_000135.4(FANCA):c.2151+20A>G rs374555419 0.00002
NM_000135.4(FANCA):c.3627-17C>T rs754751562 0.00002
NM_000135.4(FANCA):c.57G>C (p.Arg19=) rs930955916 0.00002
NM_000135.4(FANCA):c.6C>G (p.Ser2=) rs982258436 0.00002
NM_000135.4(FANCA):c.888G>A (p.Arg296=) rs942855447 0.00002
NM_000136.3(FANCC):c.165+17A>G rs1046183823 0.00002
NM_000138.5(FBN1):c.7533T>C (p.Cys2511=) rs750331217 0.00002
NM_000138.5(FBN1):c.8227-10G>A rs765093559 0.00002
NM_000142.5(FGFR3):c.1935C>T (p.Leu645=) rs104886006 0.00002
NM_000168.6(GLI3):c.3864G>A (p.Gly1288=) rs369272004 0.00002
NM_000214.3(JAG1):c.1707G>A (p.Thr569=) rs745608068 0.00002
NM_000214.3(JAG1):c.2372+13T>A rs768213112 0.00002
NM_000214.3(JAG1):c.2499G>A (p.Ala833=) rs201954371 0.00002
NM_000214.3(JAG1):c.975T>G (p.Pro325=) rs1179713453 0.00002
NM_000503.6(EYA1):c.107C>T (p.Thr36Ile) rs727503048 0.00002
NM_000540.3(RYR1):c.11091C>T (p.Pro3697=) rs201296563 0.00002
NM_000540.3(RYR1):c.1533C>T (p.Ala511=) rs758172706 0.00002
NM_000540.3(RYR1):c.2787-16A>G rs998030731 0.00002
NM_001018113.3(FANCB):c.2385T>C (p.Ser795=) rs1034395123 0.00002
NM_001018115.3(FANCD2):c.2751A>G (p.Leu917=) rs766286504 0.00002
NM_001018115.3(FANCD2):c.377+17T>C rs45593431 0.00002
NM_001018115.3(FANCD2):c.469T>C (p.Leu157=) rs373600764 0.00002
NM_001080517.3(SETD5):c.541G>A (p.Ala181Thr) rs568483869 0.00002
NM_001113378.2(FANCI):c.1112+8G>C rs761741904 0.00002
NM_001113378.2(FANCI):c.1513-16A>C rs768296894 0.00002
NM_001113378.2(FANCI):c.1923G>A (p.Leu641=) rs750462548 0.00002
NM_001113378.2(FANCI):c.976-5T>C rs775680372 0.00002
NM_001197104.2(KMT2A):c.3635-7C>T rs782489094 0.00002
NM_001360.3(DHCR7):c.279G>A (p.Thr93=) rs774554996 0.00002
NM_001360.3(DHCR7):c.543G>C (p.Leu181=) rs146839126 0.00002
NM_002485.5(NBN):c.995-17A>G rs372875251 0.00002
NM_002834.5(PTPN11):c.327T>G (p.Ser109=) rs1039250039 0.00002
NM_002880.4(RAF1):c.1113T>C (p.Asp371=) rs146668293 0.00002
NM_004333.6(BRAF):c.1433-18G>A rs763267814 0.00002
NM_004380.3(CREBBP):c.2464-7C>G rs772258017 0.00002
NM_004380.3(CREBBP):c.2482G>T (p.Ala828Ser) rs779000839 0.00002
NM_004380.3(CREBBP):c.3021G>C (p.Glu1007Asp) rs774653315 0.00002
NM_004380.3(CREBBP):c.7116G>A (p.Ser2372=) rs758454751 0.00002
NM_004525.3(LRP2):c.10803C>T (p.Cys3601=) rs370876114 0.00002
NM_004525.3(LRP2):c.427+18C>T rs775148958 0.00002
NM_004525.3(LRP2):c.8831-16C>T rs775327679 0.00002
NM_004525.3(LRP2):c.9876T>C (p.Asp3292=) rs749452281 0.00002
NM_004560.4(ROR2):c.2478G>A (p.Pro826=) rs145213893 0.00002
NM_004560.4(ROR2):c.954C>T (p.Asn318=) rs553026289 0.00002
NM_005982.4(SIX1):c.465G>A (p.Arg155=) rs748903952 0.00002
NM_006306.4(SMC1A):c.1578A>G (p.Thr526=) rs1210222346 0.00002
NM_006306.4(SMC1A):c.2124G>A (p.Leu708=) rs1309209851 0.00002
NM_006306.4(SMC1A):c.2598C>A (p.Thr866=) rs781991944 0.00002
NM_006306.4(SMC1A):c.915C>T (p.Thr305=) rs782522248 0.00002
NM_006662.3(SRCAP):c.2328T>C (p.Thr776=) rs368981651 0.00002
NM_006662.3(SRCAP):c.3168C>T (p.Ala1056=) rs765152833 0.00002
NM_006662.3(SRCAP):c.3292C>T (p.Arg1098Trp) rs556230791 0.00002
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327 0.00002
NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala) rs730881018 0.00002
NM_012330.4(KAT6B):c.1539C>T (p.Ala513=) rs774605212 0.00002
NM_012330.4(KAT6B):c.3122C>T (p.Ser1041Leu) rs377321963 0.00002
NM_012330.4(KAT6B):c.510G>A (p.Pro170=) rs750020725 0.00002
NM_012431.3(SEMA3E):c.1725A>G (p.Gln575=) rs574901886 0.00002
NM_015335.5(MED13L):c.4788T>A (p.Ile1596=) rs757338321 0.00002
NM_015443.4(KANSL1):c.1110T>C (p.Phe370=) rs374053775 0.00002
NM_015443.4(KANSL1):c.1290-20C>T rs373424916 0.00002
NM_015443.4(KANSL1):c.2262G>A (p.Val754=) rs141092796 0.00002
NM_015910.7(WDPCP):c.634-12T>A rs779141559 0.00002
NM_017780.4(CHD7):c.288C>T (p.Asn96=) rs754953018 0.00002
NM_017780.4(CHD7):c.4185+19C>T rs767064028 0.00002
NM_017780.4(CHD7):c.8367G>A (p.Ala2789=) rs752708986 0.00002
NM_020297.4(ABCC9):c.3462G>A (p.Arg1154=) rs1336342134 0.00002
NM_021922.3(FANCE):c.399C>T (p.Leu133=) rs1056749845 0.00002
NM_022455.5(NSD1):c.1176C>T (p.Phe392=) rs763543904 0.00002
NM_022455.5(NSD1):c.1992A>G (p.Glu664=) rs770274186 0.00002
NM_022455.5(NSD1):c.3286C>T (p.His1096Tyr) rs202208033 0.00002
NM_022455.5(NSD1):c.5510-10G>A rs767198805 0.00002
NM_023110.3(FGFR1):c.1663+10G>A rs901498652 0.00002
NM_023110.3(FGFR1):c.2238C>T (p.Thr746=) rs774683007 0.00002
NM_023110.3(FGFR1):c.621+19G>A rs945311072 0.00002
NM_024408.4(NOTCH2):c.4998C>T (p.Val1666=) rs765967094 0.00002
NM_024675.4(PALB2):c.3432C>T (p.Leu1144=) rs748363227 0.00002
NM_025074.7(FRAS1):c.2826C>T (p.Cys942=) rs775694534 0.00002
NM_025074.7(FRAS1):c.9330C>A (p.Ile3110=) rs376083444 0.00002
NM_025074.7(FRAS1):c.9705C>A (p.Pro3235=) rs774103279 0.00002
NM_030662.4(MAP2K2):c.535C>T (p.Arg179Trp) rs370799450 0.00002
NM_032444.4(SLX4):c.1977G>A (p.Ser659=) rs572117922 0.00002
NM_058216.3(RAD51C):c.1089G>A (p.Leu363=) rs559647198 0.00002
NM_170707.4(LMNA):c.1857T>C (p.Ser619=) rs368581237 0.00002
NM_175875.5(SIX5):c.108G>A (p.Leu36=) rs532927547 0.00002
NM_175875.5(SIX5):c.1368C>T (p.Leu456=) rs982154839 0.00002
NM_175875.5(SIX5):c.915C>T (p.Phe305=) rs370303254 0.00002
NM_000059.4(BRCA2):c.10111A>G (p.Thr3371Ala) rs80358393 0.00001
NM_000059.4(BRCA2):c.10113T>C (p.Thr3371=) rs779075029 0.00001
NM_000059.4(BRCA2):c.1179T>C (p.Cys393=) rs786201237 0.00001
NM_000059.4(BRCA2):c.5028T>C (p.Ser1676=) rs762458631 0.00001
NM_000059.4(BRCA2):c.6264T>C (p.Thr2088=) rs750651726 0.00001
NM_000135.4(FANCA):c.1007-17T>C rs760059831 0.00001
NM_000135.4(FANCA):c.1360-12C>T rs951725614 0.00001
NM_000135.4(FANCA):c.1471-8A>G rs374717514 0.00001
NM_000135.4(FANCA):c.1701C>T (p.Thr567=) rs745466726 0.00001
NM_000135.4(FANCA):c.2022G>A (p.Ser674=) rs371997754 0.00001
NM_000135.4(FANCA):c.207T>C (p.Cys69=) rs941660593 0.00001
NM_000135.4(FANCA):c.2247C>T (p.Phe749=) rs772842754 0.00001
NM_000135.4(FANCA):c.2322G>A (p.Pro774=) rs931091451 0.00001
NM_000135.4(FANCA):c.2481G>A (p.Arg827=) rs749895479 0.00001
NM_000135.4(FANCA):c.2852+13A>T rs189890126 0.00001
NM_000135.4(FANCA):c.2937T>C (p.Ala979=) rs762638564 0.00001
NM_000135.4(FANCA):c.3192C>T (p.Ser1064=) rs768502785 0.00001
NM_000135.4(FANCA):c.3246C>T (p.Leu1082=) rs753864057 0.00001
NM_000135.4(FANCA):c.3381A>G (p.Thr1127=) rs946344673 0.00001
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met) rs372706571 0.00001
NM_000135.4(FANCA):c.4251C>T (p.His1417=) rs752333498 0.00001
NM_000135.4(FANCA):c.483C>T (p.Phe161=) rs769389376 0.00001
NM_000135.4(FANCA):c.894-10G>A rs751912856 0.00001
NM_000136.3(FANCC):c.1534-18C>T rs1289718209 0.00001
NM_000136.3(FANCC):c.166-9C>G rs372507085 0.00001
NM_000136.3(FANCC):c.687-15A>C rs765327075 0.00001
NM_000138.5(FBN1):c.164+12G>A rs571164659 0.00001
NM_000138.5(FBN1):c.4707C>G (p.Ala1569=) rs397515813 0.00001
NM_000138.5(FBN1):c.4926T>C (p.Asp1642=) rs140629 0.00001
NM_000138.5(FBN1):c.5283C>T (p.Thr1761=) rs373887214 0.00001
NM_000138.5(FBN1):c.639C>T (p.Val213=) rs543984363 0.00001
NM_000141.5(FGFR2):c.1155C>G (p.Val385=) rs531426519 0.00001
NM_000141.5(FGFR2):c.1335G>T (p.Val445=) rs1460282965 0.00001
NM_000168.6(GLI3):c.246G>A (p.Arg82=) rs890167751 0.00001
NM_000168.6(GLI3):c.252A>G (p.Ser84=) rs1051536881 0.00001
NM_000168.6(GLI3):c.3054G>A (p.Leu1018=) rs1022587271 0.00001
NM_000168.6(GLI3):c.3261C>T (p.Asn1087=) rs370714837 0.00001
NM_000168.6(GLI3):c.4008G>A (p.Gly1336=) rs755403372 0.00001
NM_000168.6(GLI3):c.506C>T (p.Pro169Leu) rs1419861206 0.00001
NM_000214.3(JAG1):c.1120+11T>C rs768847875 0.00001
NM_000214.3(JAG1):c.2345-10T>G rs752854231 0.00001
NM_000214.3(JAG1):c.2573-15G>A rs753341715 0.00001
NM_000214.3(JAG1):c.2682+20G>A rs764559590 0.00001
NM_000214.3(JAG1):c.3237G>C (p.Val1079=) rs752052700 0.00001
NM_000214.3(JAG1):c.993C>T (p.Pro331=) rs1294629128 0.00001
NM_000503.6(EYA1):c.165G>A (p.Thr55=) rs745425275 0.00001
NM_000503.6(EYA1):c.923G>A (p.Arg308Gln) rs369822742 0.00001
NM_000540.3(RYR1):c.12406C>A (p.Arg4136Ser) rs193922849 0.00001
NM_000540.3(RYR1):c.15022-14A>G rs1355487795 0.00001
NM_000540.3(RYR1):c.1518A>G (p.Ala506=) rs1488570862 0.00001
NM_000540.3(RYR1):c.2931G>A (p.Thr977=) rs771471004 0.00001
NM_000540.3(RYR1):c.46-5C>T rs774388278 0.00001
NM_000751.3(CHRND):c.132C>G (p.Pro44=) rs774771779 0.00001
NM_001018115.3(FANCD2):c.1414-4A>G rs781613701 0.00001
NM_001018115.3(FANCD2):c.1698C>T (p.Thr566=) rs769844392 0.00001
NM_001018115.3(FANCD2):c.3126C>T (p.His1042=) rs552885346 0.00001
NM_001018115.3(FANCD2):c.3441T>C (p.Ala1147=) rs533541893 0.00001
NM_001018115.3(FANCD2):c.3459A>G (p.Glu1153=) rs570459552 0.00001
NM_001018115.3(FANCD2):c.3963+11A>G rs945877549 0.00001
NM_001018115.3(FANCD2):c.784-9A>G rs1388537203 0.00001
NM_001042750.2(STAG2):c.1101T>C (p.Phe367=) rs190643141 0.00001
NM_001101.5(ACTB):c.270C>T (p.Phe90=) rs1446932164 0.00001
NM_001101.5(ACTB):c.364-8C>T rs751843940 0.00001
NM_001101.5(ACTB):c.474G>A (p.Gly158=) rs141472083 0.00001
NM_001101.5(ACTB):c.63C>T (p.Phe21=) rs370972197 0.00001
NM_001101.5(ACTB):c.642G>A (p.Glu214=) rs769411154 0.00001
NM_001101.5(ACTB):c.882C>T (p.Tyr294=) rs774758801 0.00001
NM_001113378.2(FANCI):c.3059-17T>A rs778641563 0.00001
NM_001113378.2(FANCI):c.3592-16C>T rs754610218 0.00001
NM_001113378.2(FANCI):c.3592-9G>A rs200021557 0.00001
NM_001113378.2(FANCI):c.3652-9T>C rs971308997 0.00001
NM_001197104.2(KMT2A):c.135G>A (p.Pro45=) rs9332746 0.00001
NM_001291303.3(FAT4):c.842C>T (p.Thr281Ile) rs564305264 0.00001
NM_001330078.2(NRXN1):c.2625T>C (p.Asn875=) rs764347791 0.00001
NM_001360.3(DHCR7):c.342C>A (p.Leu114=) rs773047702 0.00001
NM_001360.3(DHCR7):c.513C>T (p.Thr171=) rs566499249 0.00001
NM_001360.3(DHCR7):c.964-10C>T rs753345689 0.00001
NM_001360.3(DHCR7):c.99-7C>T rs1177383343 0.00001
NM_001374828.1(ARID1B):c.3588C>T (p.Val1196=) rs371828409 0.00001
NM_001379081.2(FREM1):c.246C>T (p.Cys82=) rs766485109 0.00001
NM_001614.5(ACTG1):c.294G>A (p.Pro98=) rs1157976912 0.00001
NM_001791.4(CDC42):c.510C>T (p.Asp170=) rs200782611 0.00001
NM_001791.4(CDC42):c.529C>T (p.Leu177=) rs759623419 0.00001
NM_001854.4(COL11A1):c.3792G>A (p.Gly1264=) rs372122122 0.00001
NM_002755.4(MAP2K1):c.693+20T>C rs753107656 0.00001
NM_002834.5(PTPN11):c.1011G>A (p.Thr337=) rs371951288 0.00001
NM_002834.5(PTPN11):c.1047C>T (p.Asn349=) rs1222504763 0.00001
NM_002834.5(PTPN11):c.1131A>C (p.Leu377=) rs370059077 0.00001
NM_002834.5(PTPN11):c.1233G>A (p.Thr411=) rs1325353647 0.00001
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=) rs374896287 0.00001
NM_002834.5(PTPN11):c.874C>T (p.Leu292=) rs930267460 0.00001
NM_002968.3(SALL1):c.2259C>T (p.Tyr753=) rs1015061989 0.00001
NM_002968.3(SALL1):c.537C>T (p.Leu179=) rs200539812 0.00001
NM_003072.5(SMARCA4):c.1813-15A>G rs751661108 0.00001
NM_003072.5(SMARCA4):c.2505+14A>G rs779882147 0.00001
NM_003072.5(SMARCA4):c.3396G>A (p.Ala1132=) rs1060504446 0.00001
NM_003392.7(WNT5A):c.291G>A (p.Ala97=) rs762941459 0.00001
NM_003482.4(KMT2D):c.14581G>A (p.Asp4861Asn) rs202167830 0.00001
NM_004333.6(BRAF):c.1338G>A (p.Ser446=) rs765215499 0.00001
NM_004333.6(BRAF):c.1848C>A (p.Ser616=) rs752115982 0.00001
NM_004333.6(BRAF):c.1992+15C>T rs766089848 0.00001
NM_004333.6(BRAF):c.298T>C (p.Leu100=) rs761709697 0.00001
NM_004333.6(BRAF):c.712-18T>C rs535496777 0.00001
NM_004360.5(CDH1):c.2358C>T (p.Asp786=) rs760701558 0.00001
NM_004380.3(CREBBP):c.2064G>A (p.Pro688=) rs766050154 0.00001
NM_004380.3(CREBBP):c.3465C>T (p.Asp1155=) rs1447337021 0.00001
NM_004380.3(CREBBP):c.4992C>T (p.Arg1664=) rs756979739 0.00001
NM_004380.3(CREBBP):c.6450G>A (p.Pro2150=) rs371497730 0.00001
NM_004380.3(CREBBP):c.6684C>T (p.His2228=) rs138613594 0.00001
NM_004380.3(CREBBP):c.960C>T (p.Thr320=) rs898885851 0.00001
NM_004525.3(LRP2):c.1042+20G>A rs533964308 0.00001
NM_004525.3(LRP2):c.11451C>T (p.Cys3817=) rs745376364 0.00001
NM_004525.3(LRP2):c.12330T>A (p.Ser4110=) rs751512062 0.00001
NM_004525.3(LRP2):c.13363T>C (p.Leu4455=) rs748926618 0.00001
NM_004525.3(LRP2):c.13410C>T (p.Pro4470=) rs1419052115 0.00001
NM_004525.3(LRP2):c.1827A>G (p.Leu609=) rs186137585 0.00001
NM_004525.3(LRP2):c.3430+10G>A rs375941769 0.00001
NM_004525.3(LRP2):c.3501C>T (p.Val1167=) rs764906118 0.00001
NM_004525.3(LRP2):c.7515C>T (p.Arg2505=) rs773316402 0.00001
NM_004525.3(LRP2):c.80-10A>G rs769089398 0.00001
NM_004525.3(LRP2):c.876C>T (p.Cys292=) rs201503356 0.00001
NM_004525.3(LRP2):c.9891T>C (p.Ser3297=) rs1486598660 0.00001
NM_004560.4(ROR2):c.1605C>T (p.Asn535=) rs769352677 0.00001
NM_004629.2(FANCG):c.1086C>T (p.Asp362=) rs376623996 0.00001
NM_004629.2(FANCG):c.124T>C (p.Leu42=) rs775053536 0.00001
NM_004629.2(FANCG):c.1365C>G (p.Thr455=) rs767385265 0.00001
NM_004629.2(FANCG):c.1433+12G>A rs201070684 0.00001
NM_004629.2(FANCG):c.1818C>T (p.Asp606=) rs766524415 0.00001
NM_004629.2(FANCG):c.549T>C (p.Thr183=) rs1163330730 0.00001
NM_005120.3(MED12):c.1974+15C>T rs186876895 0.00001
NM_005633.4(SOS1):c.1848T>C (p.His616=) rs1344852617 0.00001
NM_005633.4(SOS1):c.2604T>C (p.Phe868=) rs756520305 0.00001
NM_005633.4(SOS1):c.984C>T (p.Gly328=) rs778223456 0.00001
NM_006565.4(CTCF):c.1962A>C (p.Arg654=) rs772451262 0.00001
NM_006662.3(SRCAP):c.3513A>G (p.Leu1171=) rs147309641 0.00001
NM_006662.3(SRCAP):c.9690G>A (p.Thr3230=) rs973709922 0.00001
NM_012330.4(KAT6B):c.1782A>G (p.Arg594=) rs376823181 0.00001
NM_012330.4(KAT6B):c.2115+13T>A rs375539342 0.00001
NM_012330.4(KAT6B):c.282G>A (p.Gly94=) rs569038847 0.00001
NM_012330.4(KAT6B):c.2991G>A (p.Val997=) rs1421489322 0.00001
NM_012330.4(KAT6B):c.3117A>G (p.Val1039=) rs779092722 0.00001
NM_012330.4(KAT6B):c.4080A>G (p.Glu1360=) rs546432678 0.00001
NM_012330.4(KAT6B):c.5112C>T (p.Cys1704=) rs767983250 0.00001
NM_012431.3(SEMA3E):c.2034C>T (p.Val678=) rs146635766 0.00001
NM_012431.3(SEMA3E):c.765A>C (p.Ala255=) rs143878781 0.00001
NM_014795.4(ZEB2):c.2256G>A (p.Thr752=) rs772121083 0.00001
NM_015443.4(KANSL1):c.-89-17T>C rs1051577933 0.00001
NM_015443.4(KANSL1):c.1289+9A>C rs760002592 0.00001
NM_015910.7(WDPCP):c.161-14C>T rs755586280 0.00001
NM_015910.7(WDPCP):c.1941G>A (p.Gly647=) rs765502945 0.00001
NM_015910.7(WDPCP):c.210G>A (p.Ala70=) rs961809737 0.00001
NM_015910.7(WDPCP):c.2142T>C (p.Asn714=) rs769550847 0.00001
NM_015910.7(WDPCP):c.325-17T>C rs542348306 0.00001
NM_015910.7(WDPCP):c.654C>T (p.Pro218=) rs375737055 0.00001
NM_015922.3(NSDHL):c.612C>T (p.Phe204=) rs782252634 0.00001
NM_017780.4(CHD7):c.1116A>C (p.Ser372=) rs760034378 0.00001
NM_017780.4(CHD7):c.1626A>G (p.Pro542=) rs747791210 0.00001
NM_017780.4(CHD7):c.1704G>A (p.Pro568=) rs765715877 0.00001
NM_017780.4(CHD7):c.2643T>C (p.Tyr881=) rs587783433 0.00001
NM_017780.4(CHD7):c.3483A>G (p.Thr1161=) rs371212381 0.00001
NM_017780.4(CHD7):c.3778+16T>G rs1037329080 0.00001
NM_017780.4(CHD7):c.4047C>T (p.Ile1349=) rs747100145 0.00001
NM_017780.4(CHD7):c.4850+18C>T rs375486200 0.00001
NM_017780.4(CHD7):c.486G>A (p.Gln162=) rs201635864 0.00001
NM_017780.4(CHD7):c.5865G>A (p.Arg1955=) rs1448374029 0.00001
NM_017780.4(CHD7):c.7233C>T (p.Ala2411=) rs771141688 0.00001
NM_017780.4(CHD7):c.7485G>T (p.Arg2495Ser) rs547209998 0.00001
NM_017780.4(CHD7):c.7609-4G>T rs955067555 0.00001
NM_017780.4(CHD7):c.8389C>T (p.Pro2797Ser) rs769500488 0.00001
NM_017780.4(CHD7):c.861G>A (p.Pro287=) rs1007919674 0.00001
NM_018062.4(FANCL):c.1093-19_1093-9dup rs771654902 0.00001
NM_018062.4(FANCL):c.525C>T (p.Ala175=) rs757892335 0.00001
NM_018062.4(FANCL):c.621C>T (p.Ile207=) rs374195602 0.00001
NM_018062.4(FANCL):c.903+10A>G rs779834767 0.00001
NM_020297.4(ABCC9):c.1671C>A (p.Thr557=) rs746467455 0.00001
NM_021922.3(FANCE):c.1053T>G (p.Leu351=) rs755165473 0.00001
NM_021922.3(FANCE):c.1237+20C>G rs755688409 0.00001
NM_021922.3(FANCE):c.1384-14C>T rs558453150 0.00001
NM_021922.3(FANCE):c.324G>A (p.Ser108=) rs762826105 0.00001
NM_021922.3(FANCE):c.999C>T (p.Leu333=) rs776082827 0.00001
NM_022455.5(NSD1):c.2007C>T (p.Phe669=) rs530934556 0.00001
NM_022455.5(NSD1):c.4883T>C (p.Met1628Thr) rs530920626 0.00001
NM_022455.5(NSD1):c.5610T>C (p.Tyr1870=) rs1581507735 0.00001
NM_023110.3(FGFR1):c.1185C>T (p.Ile395=) rs756104594 0.00001
NM_023110.3(FGFR1):c.1308C>T (p.Ser436=) rs546318124 0.00001
NM_023110.3(FGFR1):c.1978-13G>A rs761708658 0.00001
NM_023110.3(FGFR1):c.1978-16C>T rs764971696 0.00001
NM_023110.3(FGFR1):c.2058C>T (p.Phe686=) rs1193961883 0.00001
NM_023110.3(FGFR1):c.2271C>T (p.Ile757=) rs369782405 0.00001
NM_024408.4(NOTCH2):c.1032C>T (p.Phe344=) rs782702694 0.00001
NM_024408.4(NOTCH2):c.1248G>A (p.Val416=) rs374135765 0.00001
NM_024408.4(NOTCH2):c.2026+6G>T rs587731563 0.00001
NM_024408.4(NOTCH2):c.2295A>G (p.Pro765=) rs139358772 0.00001
NM_024408.4(NOTCH2):c.6516C>T (p.Ser2172=) rs587733506 0.00001
NM_024675.4(PALB2):c.1164T>C (p.Pro388=) rs1205215998 0.00001
NM_024675.4(PALB2):c.195G>A (p.Pro65=) rs751176316 0.00001
NM_024675.4(PALB2):c.2587-12C>T rs1266683395 0.00001
NM_024675.4(PALB2):c.2784G>A (p.Val928=) rs763411245 0.00001
NM_024675.4(PALB2):c.2881C>T (p.Leu961=) rs61755166 0.00001
NM_024675.4(PALB2):c.2985A>T (p.Ala995=) rs786202892 0.00001
NM_024675.4(PALB2):c.3350+16T>G rs515726115 0.00001
NM_024675.4(PALB2):c.735G>A (p.Ala245=) rs371612049 0.00001
NM_025074.7(FRAS1):c.2625C>T (p.Cys875=) rs769192947 0.00001
NM_030665.4(RAI1):c.4911G>A (p.Ser1637=) rs756222196 0.00001
NM_032444.4(SLX4):c.1872C>T (p.Ser624=) rs767618166 0.00001
NM_032444.4(SLX4):c.2289T>C (p.Pro763=) rs1389488864 0.00001
NM_032444.4(SLX4):c.2724G>A (p.Pro908=) rs760071419 0.00001
NM_032444.4(SLX4):c.279C>G (p.Thr93=) rs543091261 0.00001
NM_032444.4(SLX4):c.3064C>T (p.Leu1022=) rs1391997347 0.00001
NM_032444.4(SLX4):c.3105C>T (p.Phe1035=) rs1313995893 0.00001
NM_032444.4(SLX4):c.3588T>C (p.Asp1196=) rs112016711 0.00001
NM_032444.4(SLX4):c.3634G>A (p.Ala1212Thr) rs574844562 0.00001
NM_032444.4(SLX4):c.3741G>A (p.Glu1247=) rs769032315 0.00001
NM_032444.4(SLX4):c.4824A>G (p.Ser1608=) rs767845523 0.00001
NM_032444.4(SLX4):c.5214G>A (p.Gly1738=) rs369714623 0.00001
NM_058216.3(RAD51C):c.537C>T (p.His179=) rs372385738 0.00001
NM_058216.3(RAD51C):c.79C>T (p.Leu27=) rs786201775 0.00001
NM_058216.3(RAD51C):c.904+16G>C rs929872458 0.00001
NM_147127.5(EVC2):c.3007G>A (p.Glu1003Lys) rs555666020 0.00001
NM_170707.4(LMNA):c.1155G>A (p.Glu385=) rs878855232 0.00001
NM_170707.4(LMNA):c.1157+19G>A rs757715731 0.00001
NM_170707.4(LMNA):c.12G>A (p.Pro4=) rs369823958 0.00001
NM_170707.4(LMNA):c.153G>T (p.Ser51=) rs751886390 0.00001
NM_170707.4(LMNA):c.1662G>A (p.Glu554=) rs201936898 0.00001
NM_170707.4(LMNA):c.1699-9C>T rs776616872 0.00001
NM_170707.4(LMNA):c.1731T>C (p.Ala577=) rs776066211 0.00001
NM_170707.4(LMNA):c.369G>A (p.Lys123=) rs367938270 0.00001
NM_170707.4(LMNA):c.96G>A (p.Lys32=) rs775429079 0.00001
NM_170784.3(MKKS):c.1360C>T (p.Leu454=) rs1210784201 0.00001
NM_170784.3(MKKS):c.1695T>C (p.Val565=) rs554395344 0.00001
NM_170784.3(MKKS):c.210A>C (p.Thr70=) rs1471154105 0.00001
NM_175875.5(SIX5):c.1629C>T (p.Asn543=) rs768534722 0.00001
NM_207361.6(FREM2):c.111C>T (p.Leu37=) rs765770038 0.00001
NM_000059.4(BRCA2):c.5025T>C (p.Cys1675=) rs370591460
NM_000059.4(BRCA2):c.5661G>A (p.Thr1887=) rs80359793
NM_000059.4(BRCA2):c.6030C>A (p.Val2010=) rs786201328
NM_000059.4(BRCA2):c.68-7dup rs276174878
NM_000135.4(FANCA):c.1290G>A (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1290G>T (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.1360-4A>G rs746911316
NM_000135.4(FANCA):c.1755C>T (p.Pro585=) rs144704750
NM_000135.4(FANCA):c.2015-4G>A rs373954227
NM_000135.4(FANCA):c.2127G>A (p.Pro709=) rs771226546
NM_000135.4(FANCA):c.2151+7G>A rs2039330078
NM_000135.4(FANCA):c.2286C>T (p.Leu762=) rs1419118181
NM_000135.4(FANCA):c.2496C>T (p.Phe832=) rs2039260982
NM_000135.4(FANCA):c.2504+12_2504+14del rs1023581563
NM_000135.4(FANCA):c.2602-18G>C rs774316884
NM_000135.4(FANCA):c.2602-19G>C rs17233225
NM_000135.4(FANCA):c.2779-5C>G rs753286882
NM_000135.4(FANCA):c.2853-4C>A rs1289126600
NM_000135.4(FANCA):c.3144C>T (p.Leu1048=) rs1302242291
NM_000135.4(FANCA):c.3239+11C>G rs200232122
NM_000135.4(FANCA):c.3409-18C>T rs762166434
NM_000135.4(FANCA):c.3630C>T (p.Phe1210=) rs776001484
NM_000135.4(FANCA):c.3822C>A (p.Thr1274=) rs1382340096
NM_000135.4(FANCA):c.523-37TTGTTT[2] rs530849202
NM_000135.4(FANCA):c.558C>T (p.His186=) rs149159377
NM_000135.4(FANCA):c.710-20_710-19del rs2040524550
NM_000135.4(FANCA):c.924C>A (p.Gly308=) rs143255238
NM_000136.3(FANCC):c.1485G>A (p.Leu495=) rs56082100
NM_000136.3(FANCC):c.1503C>T (p.Gly501=) rs2134454633
NM_000136.3(FANCC):c.843+12G>A rs2135164340
NM_000136.3(FANCC):c.896+14T>C rs2134966492
NM_000138.5(FBN1):c.5031C>T (p.Asp1677=) rs1597545860
NM_000138.5(FBN1):c.5066-12C>T rs531105331
NM_000138.5(FBN1):c.7236T>C (p.Val2412=) rs1306021418
NM_000141.5(FGFR2):c.1356T>A (p.Ser452=) rs2134060289
NM_000141.5(FGFR2):c.1746C>T (p.Pro582=) rs369850306
NM_000141.5(FGFR2):c.1987-20A>T rs772633227
NM_000141.5(FGFR2):c.390C>G (p.Ser130=) rs1029635273
NM_000168.6(GLI3):c.1029-22dup rs559579130
NM_000168.6(GLI3):c.1357-9T>A rs1583801330
NM_000168.6(GLI3):c.3083_3084delinsTT (p.Ser1028Ile) rs886043721
NM_000208.4(INSR):c.653-9_653-7delinsC rs1568470641
NM_000214.3(JAG1):c.120G>C (p.Leu40=) rs1000010346
NM_000214.3(JAG1):c.1349-19_1349-17del rs756384545
NM_000214.3(JAG1):c.1396-27TC[6] rs544547916
NM_000214.3(JAG1):c.1720+16dup rs774418829
NM_000214.3(JAG1):c.2228-13T>G rs1163165774
NM_000214.3(JAG1):c.2344+17del rs774508190
NM_000214.3(JAG1):c.2916+17G>A rs767489867
NM_000214.3(JAG1):c.493C>T (p.Arg165Trp) rs749293754
NM_000214.3(JAG1):c.694+4TG[8] rs112693360
NM_000503.6(EYA1):c.1140+11A>T rs759981657
NM_000503.6(EYA1):c.1598-15A>G rs372286227
NM_000522.5(HOXA13):c.234T>A (p.Ala78=) rs1308135144
NM_000522.5(HOXA13):c.360_377del (p.Ala128_Ala133del) rs35861510
NM_000540.3(RYR1):c.12013-18C>A rs377516769
NM_000540.3(RYR1):c.12846C>T (p.Leu4282=) rs1184700540
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.46-4G>A rs201094741
NM_000540.3(RYR1):c.5460C>T (p.Arg1820=) rs1193082244
NM_000540.3(RYR1):c.7584C>G (p.Pro2528=) rs1465698
NM_000540.3(RYR1):c.897G>C (p.Val299=) rs76854339
NM_001018113.3(FANCB):c.1105-26TATT[4] rs398123537
NM_001018113.3(FANCB):c.1767A>G (p.Thr589=) rs964099207
NM_001018113.3(FANCB):c.706G>A (p.Val236Met) rs746389250
NM_001018115.3(FANCD2):c.1614A>G (p.Thr538=) rs141824395
NM_001018115.3(FANCD2):c.1917C>A (p.Ile639=) rs151224882
NM_001079872.2(CUL4B):c.847-10del rs762094686
NM_001081550.2(THOC2):c.4338A>G (p.Pro1446=) rs367878305
NM_001101.5(ACTB):c.-6-15C>G rs375195937
NM_001101.5(ACTB):c.803-7C>T rs780471227
NM_001101.5(ACTB):c.903C>T (p.Gly301=) rs13447407
NM_001110792.2(MECP2):c.1241C>T (p.Pro414Leu) rs61753014
NM_001110792.2(MECP2):c.6CGC[5] (p.Ala8del) rs398123566
NM_001113378.2(FANCI):c.1263C>A (p.Leu421=) rs376956791
NM_001113378.2(FANCI):c.1699-17del rs746745862
NM_001113378.2(FANCI):c.3537+19C>G rs2054711237
NM_001113378.2(FANCI):c.3645C>T (p.Tyr1215=) rs760364969
NM_001113378.2(FANCI):c.3652-10A>T rs202231175
NM_001113378.2(FANCI):c.3720+14A>G rs200012909
NM_001113378.2(FANCI):c.822C>T (p.His274=) rs2053064054
NM_001197104.2(KMT2A):c.188CGG[4] (p.Ala67del) rs781936420
NM_001360.3(DHCR7):c.1098G>A (p.Gly366=) rs2135939894
NM_001360.3(DHCR7):c.12A>G (p.Lys4=) rs757934834
NM_001360.3(DHCR7):c.237T>C (p.His79=) rs1316013264
NM_001360.3(DHCR7):c.304T>C (p.Leu102=) rs1591113264
NM_001360.3(DHCR7):c.369C>T (p.Pro123=) rs373452254
NM_001365999.1(SZT2):c.7874-16C>G rs72883828
NM_001371986.1(UNC80):c.7806-17AT[7] rs752949976
NM_001372066.1(TFAP2A):c.660C>T (p.Leu220=) rs369302647
NM_001372066.1(TFAP2A):c.747G>A (p.Ser249=) rs1372051364
NM_001374828.1(ARID1B):c.1170CGG[5] (p.Gly400_Gly402del) rs587779747
NM_001374828.1(ARID1B):c.591GCA[6] (p.Gln214del) rs587779743
NM_001374828.1(ARID1B):c.591GCA[9] (p.Gln214_His215insGlnGln) rs587779743
NM_001378183.1(PIEZO2):c.2170-18del rs11468237
NM_001379081.2(FREM1):c.3517G>T (p.Ala1173Ser) rs564039071
NM_001379081.2(FREM1):c.4563C>A (p.Ala1521=) rs60091943
NM_001379081.2(FREM1):c.483C>T (p.Phe161=) rs540878376
NM_001379081.2(FREM1):c.516C>T (p.Thr172=) rs41265310
NM_001379081.2(FREM1):c.5316G>T (p.Ser1772=) rs775863172
NM_001379081.2(FREM1):c.5335-11del rs140882884
NM_001614.5(ACTG1):c.15C>T (p.Ile5=) rs199657153
NM_002351.5(SH2D1A):c.48C>T (p.Gly16=) rs72610640
NM_002485.5(NBN):c.540C>T (p.Phe180=) rs1060504928
NM_002755.4(MAP2K1):c.291+14_291+20delinsTCTCACCAATCACCA rs1064795401
NM_002834.5(PTPN11):c.519C>G (p.Arg173=) rs767425313
NM_002880.3(RAF1):c.-340_-339GA[1] rs527774250
NM_002880.4(RAF1):c.-204G>C rs547543588
NM_002968.3(SALL1):c.3180C>A (p.Leu1060=) rs142054182
NM_002968.3(SALL1):c.3322G>A (p.Val1108Ile) rs148931484
NM_002968.3(SALL1):c.448AGC[13] (p.Ser157_Ser159dup) rs113614842
NM_003036.4(SKI):c.1311C>T (p.Ala437=) rs140889128
NM_003070.5(SMARCA2):c.669GCA[16] (p.Gln238_Pro239insGlnGlnGln) rs113070757
NM_003072.5(SMARCA4):c.120C>T (p.His40=) rs375884151
NM_003072.5(SMARCA4):c.4170+17C>T rs145829956
NM_003184.4(TAF2):c.1684-17C>T rs118105771
NM_003289.4(TPM2):c.564-20_564-19dup rs3215700
NM_003289.4(TPM2):c.773-4_773-3dup rs35401252
NM_003482.4(KMT2D):c.8148T>C (p.Pro2716=) rs369429157
NM_003482.4(KMT2D):c.8148_8149delinsCT (p.Pro2717Ser) rs398123761
NM_004333.6(BRAF):c.1206C>A (p.Pro402=) rs201758035
NM_004333.6(BRAF):c.1432+17_1432+19del rs777363183
NM_004333.6(BRAF):c.1719C>A (p.Ile573=) rs2128999629
NM_004333.6(BRAF):c.1992+16G>C rs3789806
NM_004333.6(BRAF):c.2128-27_2128-19del rs761539834
NM_004380.3(CREBBP):c.1095T>C (p.His365=) rs565069106
NM_004380.3(CREBBP):c.3370-4del rs75459669
NM_004380.3(CREBBP):c.3370-5_3370-4del rs75459669
NM_004380.3(CREBBP):c.5241G>T (p.Leu1747=) rs932933039
NM_004380.3(CREBBP):c.6612GCA[4] (p.Gln2216dup) rs779647460
NM_004380.3(CREBBP):c.6621_6629del (p.Gln2214_Gln2216del) rs727503890
NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=) rs142545779
NM_004380.3(CREBBP):c.6834G>A (p.Gly2278=) rs372866305
NM_004380.3(CREBBP):c.712G>A (p.Val238Met) rs146887252
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu) rs146887252
NM_004380.3(CREBBP):c.753T>G (p.Thr251=) rs142403441
NM_004456.5(EZH2):c.118-18_118-16del rs775795844
NM_004525.3(LRP2):c.10155C>T (p.His3385=) rs765266983
NM_004525.3(LRP2):c.1186A>G (p.Ile396Val) rs527397264
NM_004525.3(LRP2):c.11985C>T (p.Phe3995=) rs138867955
NM_004525.3(LRP2):c.13044A>T (p.Gly4348=) rs143254052
NM_004525.3(LRP2):c.13137C>G (p.Pro4379=) rs140160600
NM_004525.3(LRP2):c.13218C>T (p.Thr4406=) rs780040199
NM_004525.3(LRP2):c.13519-40CT[7] rs138614485
NM_004525.3(LRP2):c.13519-40CT[8] rs138614485
NM_004525.3(LRP2):c.13519-40CT[9] rs138614485
NM_004525.3(LRP2):c.13620+16G>A rs2105334637
NM_004525.3(LRP2):c.13830T>G (p.Ala4610=) rs2105322142
NM_004525.3(LRP2):c.1593C>T (p.Ser531=) rs148996947
NM_004525.3(LRP2):c.1975+19G>A rs2105443566
NM_004525.3(LRP2):c.246C>T (p.Pro82=) rs1684836154
NM_004525.3(LRP2):c.428-14_428-8del rs370823033
NM_004525.3(LRP2):c.428-18_428-8del rs370823033
NM_004525.3(LRP2):c.538+19A>T rs2105472858
NM_004525.3(LRP2):c.6267G>A (p.Pro2089=) rs2228169
NM_004525.3(LRP2):c.652+14T>A rs116358988
NM_004525.3(LRP2):c.652+14T>G rs116358988
NM_004525.3(LRP2):c.770-5C>A rs180797349
NM_004525.3(LRP2):c.7716-13del rs754348745
NM_004525.3(LRP2):c.7716-13dup rs754348745
NM_004525.3(LRP2):c.80-14_80-11del rs777197536
NM_004525.3(LRP2):c.8699-8C>T rs145301652
NM_004525.3(LRP2):c.923-19del rs535311793
NM_004560.4(ROR2):c.1104C>T (p.Pro368=) rs200675570
NM_004560.4(ROR2):c.2442G>A (p.Pro814=) rs185808139
NM_004629.2(FANCG):c.511-10_511-8del rs1384885358
NM_004629.2(FANCG):c.511-6dup rs376732298
NM_004629.2(FANCG):c.81C>T (p.Ala27=) rs1060504372
NM_004629.2(FANCG):c.957G>C (p.Pro319=) rs145092954
NM_004958.4(MTOR):c.2331+6A>G rs761030701
NM_004958.4(MTOR):c.348C>T (p.Pro116=) rs558389352
NM_004985.5(KRAS):c.112-9C>T rs727504298
NM_005120.3(MED12):c.6208CAG[6] (p.Gln2076del) rs757160341
NM_005236.3(ERCC4):c.1342G>C (p.Glu448Gln) rs547209644
NM_005236.3(ERCC4):c.2124C>T (p.Pro708=) rs376391395
NM_005343.4(HRAS):c.291-6T>G rs766909143
NM_005359.6(SMAD4):c.1125C>T (p.Ala375=) rs1060504023
NM_005360.5(MAF):c.678CGG[10] (p.Gly237_Gly238dup) rs887468453
NM_005629.4(SLC6A8):c.1392+17dup rs781964988
NM_005633.4(SOS1):c.2674-9dup rs532594344
NM_006015.6(ARID1A):c.3978GCA[10] (p.Gln1333_Gln1334dup) rs374564889
NM_006265.3(RAD21):c.815-27dup rs35902828
NM_006265.3(RAD21):c.815-6_815-5del rs35902828
NM_006306.4(SMC1A):c.3450C>A (p.Ala1150=) rs142611198
NM_006306.4(SMC1A):c.3555C>T (p.Ile1185=) rs2146581314
NM_006306.4(SMC1A):c.951G>A (p.Lys317=) rs2146604793
NM_006662.3(SRCAP):c.1278G>A (p.Glu426=) rs780939002
NM_006662.3(SRCAP):c.1493-8C>A rs184337406
NM_006662.3(SRCAP):c.1878A>G (p.Leu626=) rs1596647814
NM_006662.3(SRCAP):c.189C>A (p.Pro63=) rs79656879
NM_006662.3(SRCAP):c.4088C>G (p.Ala1363Gly) rs372507463
NM_006662.3(SRCAP):c.6495-5C>G rs189024516
NM_006767.4(LZTR1):c.1620T>C (p.His540=) rs141610191
NM_006939.4(SOS2):c.1263T>C (p.Asn421=) rs369267864
NM_006939.4(SOS2):c.3540TCC[4] (p.Pro1183dup) rs765097073
NM_007055.4(POLR3A):c.1745G>T (p.Arg582Leu) rs34588967
NM_007118.4(TRIO):c.3332-8T>C rs369818812
NM_007129.5(ZIC2):c.1497C>A (p.Gly499=) rs186543347
NM_007129.5(ZIC2):c.692ACC[10] (p.His239dup) rs398124241
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del) rs80358329
NM_007294.4(BRCA1):c.3075A>C (p.Thr1025=) rs786201258
NM_007294.4(BRCA1):c.4185+11TG[5] rs273900723
NM_007294.4(BRCA1):c.5406A>C (p.Thr1802=) rs879255493
NM_012318.3(LETM1):c.393C>A (p.Asn131Lys) rs145996246
NM_012318.3(LETM1):c.83-19dup rs145853749
NM_012330.4(KAT6B):c.2790G>T (p.Ala930=) rs765834987
NM_012330.4(KAT6B):c.3289GAA[6] (p.Glu1103_Glu1104del) rs71929101
NM_012330.4(KAT6B):c.3717C>G (p.Pro1239=) rs147746065
NM_012330.4(KAT6B):c.4065GGA[3] (p.Glu1367_Glu1368del) rs367634881
NM_012330.4(KAT6B):c.622-7G>A rs751195432
NM_012431.3(SEMA3E):c.1144-7T>C rs1370491845
NM_012431.3(SEMA3E):c.1668-10T>G rs1284168796
NM_012431.3(SEMA3E):c.2151C>T (p.Ile717=) rs375211355
NM_013275.6(ANKRD11):c.1844C>G (p.Ala615Gly) rs115797011
NM_013275.6(ANKRD11):c.3431C>T (p.Pro1144Leu) rs137894790
NM_013275.6(ANKRD11):c.4475_4498del (p.1484_1491LLRHHRDE[1]) rs534329317
NM_013275.6(ANKRD11):c.6262G>A (p.Ala2088Thr) rs753691962
NM_014141.6(CNTNAP2):c.3660C>A (p.Thr1220=) rs573467341
NM_014225.6(PPP2R1A):c.1364-16C>G rs8100816
NM_014423.4(AFF4):c.1051-17A>C rs55844143
NM_014795.4(ZEB2):c.593-9C>T rs372216323
NM_014991.6(WDFY3):c.3487+8dup rs139234296
NM_015311.3(OBSL1):c.2577_2578delinsTT (p.Pro860Ser) rs2106073376
NM_015335.5(MED13L):c.2012+10CT[2] rs564143152
NM_015335.5(MED13L):c.2013-29dup rs542425590
NM_015338.6(ASXL1):c.57+19G>A rs200198574
NM_015443.4(KANSL1):c.1839T>C (p.Leu613=) rs1598526728
NM_015443.4(KANSL1):c.2256C>T (p.Asp752=) rs760224197
NM_015443.4(KANSL1):c.607G>T (p.Gly203Trp) rs138175526
NM_015443.4(KANSL1):c.680G>A (p.Ser227Asn) rs150345690
NM_015443.4(KANSL1):c.773_774inv (p.Leu258Ser)
NM_015570.4(AUTS2):c.3377ACC[7] (p.His1133del) rs538005366
NM_015910.7(WDPCP):c.123G>A (p.Leu41=) rs779322047
NM_015910.7(WDPCP):c.1625-12T>G rs1014640074
NM_015910.7(WDPCP):c.633+17A>T rs373456348
NM_015922.3(NSDHL):c.268-15dup rs782031217
NM_016653.3(MAP3K20):c.1360-14_1360-9del rs150855284
NM_017780.4(CHD7):c.2377-17C>T rs1586352662
NM_017780.4(CHD7):c.2787C>T (p.Ile929=) rs771367272
NM_017780.4(CHD7):c.2835+18G>C rs143580627
NM_017780.4(CHD7):c.3522+20T>G rs577146364
NM_017780.4(CHD7):c.4170C>T (p.Pro1390=) rs907362259
NM_017780.4(CHD7):c.4182C>G (p.Leu1394=) rs375867019
NM_017780.4(CHD7):c.6924G>A (p.Ser2308=) rs61733338
NM_017780.4(CHD7):c.6924G>C (p.Ser2308=) rs61733338
NM_017780.4(CHD7):c.8187C>T (p.Ala2729=) rs1806178855
NM_017780.4(CHD7):c.831G>C (p.Pro277=) rs775415630
NM_017780.4(CHD7):c.8477A>G (p.Asn2826Ser) rs370129047
NM_018026.4(PACS1):c.110_133dup (p.Gln37_Gln44dup) rs756417166
NM_018027.5(FRMD4A):c.2651GCG[6] (p.Gly888dup) rs536647518
NM_018062.4(FANCL):c.472-15A>G rs374750427
NM_019066.5(MAGEL2):c.2611_2612delinsTT (p.Ala871Phe) rs386781907
NM_020297.4(ABCC9):c.4450-6_4450-5del rs4148680
NM_021922.3(FANCE):c.733GGA[1] (p.Gly246del) rs45451605
NM_022455.5(NSD1):c.6259-4G>T rs764710462
NM_022455.5(NSD1):c.7809C>T (p.Leu2603=) rs769301382
NM_023110.3(FGFR1):c.2187-19C>T rs376583717
NM_023110.3(FGFR1):c.381TGA[5] (p.Asp133del) rs138489552
NM_024408.4(NOTCH2):c.3523-15_3523-13del rs782523879
NM_024408.4(NOTCH2):c.4665T>C (p.Pro1555=) rs587722015
NM_024408.4(NOTCH2):c.4999G>A (p.Val1667Ile) rs17024517
NM_024408.4(NOTCH2):c.7326C>T (p.Ser2442=) rs2101141240
NM_024675.4(PALB2):c.108+7_108+8delinsAT rs2142459585
NM_024675.4(PALB2):c.1482T>C (p.Thr494=) rs2142414557
NM_024675.4(PALB2):c.168T>C (p.Asp56=) rs1203135643
NM_024675.4(PALB2):c.1881G>T (p.Val627=) rs139362268
NM_024675.4(PALB2):c.18G>A (p.Gly6=) rs587782462
NM_024675.4(PALB2):c.212-24TA[4] rs751741705
NM_024675.4(PALB2):c.2424A>C (p.Gly808=) rs1060504714
NM_024675.4(PALB2):c.2834+13C>G rs551516577
NM_024675.4(PALB2):c.3204G>T (p.Gly1068=) rs786203475
NM_025074.7(FRAS1):c.2313G>A (p.Pro771=) rs396790
NM_025074.7(FRAS1):c.4969+19A>T rs73831318
NM_025074.7(FRAS1):c.7029+9A>C rs188606284
NM_030665.4(RAI1):c.3731GCA[3] (p.Ser1247_Ser1249del) rs760919336
NM_030973.4(MED25):c.633A>T (p.Thr211=) rs369117035
NM_032043.3(BRIP1):c.2905+17C>A rs1458780264
NM_032043.3(BRIP1):c.3585G>A (p.Leu1195=) rs2061301182
NM_032444.4(SLX4):c.1163+10C>T rs80116508
NM_032444.4(SLX4):c.1227G>A (p.Lys409=) rs534443134
NM_032444.4(SLX4):c.1683+9C>T rs1242929879
NM_032444.4(SLX4):c.3366G>A (p.Pro1122=) rs752209638
NM_032444.4(SLX4):c.420G>A (p.Glu140=) rs753015235
NM_052867.4(NALCN):c.1135-10G>A rs114020374
NM_052867.4(NALCN):c.4104-19dup rs113354194
NM_058216.3(RAD51C):c.404+16C>T rs376465837
NM_058216.3(RAD51C):c.838-20C>G rs766600284
NM_058216.3(RAD51C):c.905-20A>G rs950351911
NM_078480.3(PUF60):c.60GGC[6] (p.Ala25dup) rs540307276
NM_080632.3(UPF3B):c.263+5_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+9_263+18dup rs55712755
NM_133433.4(NIPBL):c.4240-7T>C rs587783943
NM_147127.5(EVC2):c.1711-10del rs35103377
NM_147127.5(EVC2):c.1711-20dup rs35103377
NM_170606.3(KMT2C):c.1038G>A (p.Val346=) rs770240292
NM_170606.3(KMT2C):c.162-7del rs376309362
NM_170606.3(KMT2C):c.7236C>T (p.Pro2412=) rs140215243
NM_170707.4(LMNA):c.1381-6C>G rs371635492
NM_170707.4(LMNA):c.1485G>A (p.Val495=) rs1651703234
NM_170707.4(LMNA):c.1659C>T (p.Asp553=) rs748768783
NM_170707.4(LMNA):c.1968+18dup rs554157057
NM_170707.4(LMNA):c.927C>A (p.Leu309=) rs752558753
NM_170784.3(MKKS):c.1162-12del rs781066396
NM_170784.3(MKKS):c.207C>T (p.Val69=) rs1382659817
NM_170784.3(MKKS):c.717C>T (p.Leu239=) rs1214711344
NM_175875.5(SIX5):c.1023C>T (p.Gly341=) rs780345670
NM_175875.5(SIX5):c.1665C>T (p.Ala555=)
NM_175875.5(SIX5):c.1773G>T (p.Thr591=) rs138916954
NM_198525.3(KIF7):c.3345C>G (p.His1115Gln) rs142032413
NM_198525.3(KIF7):c.710G>T (p.Arg237Leu) rs529571444
NM_207361.6(FREM2):c.5625C>T (p.Ile1875=) rs202007498
NM_207361.6(FREM2):c.567C>T (p.Val189=) rs370371340
NM_207361.6(FREM2):c.7520-16_7520-15insGT rs1555272871
NM_207361.6(FREM2):c.7520-5del rs36084034
NM_207361.6(FREM2):c.7520-5dup rs36084034

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