ClinVar Miner

List of variants reported as benign for disorder of development or morphogenesis

Included ClinVar conditions (3710):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30356
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HGVS dbSNP gnomAD frequency
NM_000860.5(HPGD):c.-453A>G rs1346270 1.00000
NM_001042631.3(SDHAF1):c.269G>C (p.Cys90Ser) rs7249826 1.00000
NM_001129.5(AEBP1):c.2218-37dup rs11377645 1.00000
NM_005629.4(SLC6A8):c.-5A>G rs384573 1.00000
NM_006031.6(PCNT):c.8751+23dup rs5844270 1.00000
NM_144508.5(KNL1):c.322+123dup rs11427985 1.00000
NM_000116.5(TAFAZZIN):c.110-17= rs62617809 0.99999
NM_080680.3(COL11A2):c.1360-7A>C rs3129201 0.99999
NM_138927.4(SON):c.7236dup (p.Ala2413fs) rs34377180 0.99998
NM_138927.4(SON):c.7248del (p.Arg2416fs) rs34373121 0.99997
NM_000208.4(INSR):c.5C>G (p.Ala2Gly) rs7508518 0.99996
NM_001367624.2(ZNF469):c.3153T>C (p.Ile1051=) rs9924504 0.99996
NM_015330.6(SPECC1L):c.2851G>A (p.Val951Met) rs204718 0.99996
NM_001278116.2(L1CAM):c.-109+1811dup rs77883713 0.99995
NM_001361.5(DHODH):c.435-38G>C rs11075914 0.99994
NM_001384732.1(CPLANE1):c.81+20= rs6876576 0.99994
NM_004813.4(PEX16):c.346G>A (p.Val116Ile) rs10742772 0.99994
NM_014846.4(WASHC5):c.2770+18_2770+19insG rs11370883 0.99994
NM_207361.6(FREM2):c.2233= (p.Pro745=) rs2496423 0.99994
NM_207361.6(FREM2):c.576G>A (p.Glu192=) rs1868464 0.99992
NM_001352754.2(ARMC9):c.538A>G (p.Ile180Val) rs1626450 0.99989
NM_030957.4(ADAMTS10):c.3303T>G (p.His1101Gln) rs7252299 0.99986
NM_138927.4(SON):c.3605C>T (p.Ser1202Leu) rs13433428 0.99978
NM_001379403.1(WDR26):c.722+18C>G rs2405033 0.99973
NM_004044.7(ATIC):c.1503+48A>T rs10932609 0.99971
NM_004044.7(ATIC):c.147-111A>T rs4672766 0.99970
NM_006129.5(BMP1):c.2576-103C>T rs4463424 0.99968
NM_001367624.2(ZNF469):c.10990= (p.Ala3664=) rs904783 0.99962
NM_000088.4(COL1A1):c.2298T>C (p.Thr766=) rs2734272 0.99956
NM_000088.4(COL1A1):c.2830-33C>G rs2586489 0.99956
NM_000719.7(CACNA1C):c.5445-511= rs10774054 0.99951
NM_030928.4(CDT1):c.700T>C (p.Cys234Arg) rs507329 0.99944
NM_014762.4(DHCR24):c.*2555A>G rs657688 0.99941
NM_006486.3(FBLN1):c.422A>G (p.Gln141Arg) rs136730 0.99862
NM_145068.4(TRPV3):c.73A>G (p.Ile25Val) rs322965 0.99860
NM_020297.4(ABCC9):c.1660-43C>A rs704216 0.99827
NM_016169.4(SUFU):c.*20T>G rs4917980 0.99823
NM_001163435.3(TBCK):c.796C>G (p.Gln266Glu) rs3775091 0.99817
NM_020297.4(ABCC9):c.2199-11= rs697250 0.99814
NM_004311.4(ARL3):c.264+49_264+50del rs59504153 0.99810
NM_000789.4(ACE):c.511+66A>G rs4296 0.99798
NM_022662.4(ANAPC1):c.5373C>A (p.Ile1791=) rs939797 0.99776
NM_004525.3(LRP2):c.63G>C (p.Ala21=) rs1559014 0.99771
NM_198569.3(ADGRG6):c.3380A>G (p.Gln1127Arg) rs1262686 0.99767
NM_004004.6(GJB2):c.*1277T>C rs7988691 0.99748
NM_000079.4(CHRNA1):c.235-385C>T rs2646164 0.99734
NM_001104631.2(PDE4D):c.648-22C>T rs27175 0.99711
NM_020297.4(ABCC9):c.1296= (p.Pro432=) rs10770865 0.99692
NM_005751.5(AKAP9):c.8935C>T (p.Pro2979Ser) rs1063242 0.99690
NM_000719.7(CACNA1C):c.50-327C>G rs4765896 0.99675
NM_018136.5(ASPM):c.7480T>C (p.Tyr2494His) rs964201 0.99668
NM_001329943.3(KIAA0586):c.1119G>A (p.Ser373=) rs1748971 0.99666
NM_020436.5(SALL4):c.540T>C (p.Asn180=) rs6013281 0.99661
NM_000093.5(COL5A1):c.-247T>G rs71483234 0.99656
NM_001330311.2(DVL1):c.366A>G (p.Pro122=) rs307362 0.99656
NM_145068.4(TRPV3):c.*88G>A rs906418 0.99631
NM_002334.4(LRP4):c.1623T>C (p.Asp541=) rs10769215 0.99630
NM_022662.4(ANAPC1):c.1651-23A>G rs4848800 0.99624
NM_001367624.2(ZNF469):c.8627A>G (p.His2876Arg) rs1983014 0.99622
NM_001367624.2(ZNF469):c.1529G>C (p.Gly510Ala) rs7199961 0.99603
NM_006182.4(DDR2):c.1856+32G>T rs1355287 0.99589
NM_001025389.1(AMPD3):c.-239G>C rs899012 0.99541
NM_000090.4(COL3A1):c.4059T>G (p.His1353Gln) rs1516446 0.99509
NM_025074.7(FRAS1):c.10649-29T>A rs931604 0.99498
NM_000263.4(NAGLU):c.423T>C (p.Ser141=) rs659497 0.99480
NM_001303.3(COX10):c.-112G>A rs6502330 0.99477
NM_001025389.2(AMPD3):c.*1585G>A rs1545743 0.99471
NM_133267.3(GSX2):c.319G>A (p.Gly107Ser) rs13144341 0.99469
NM_001025389.2(AMPD3):c.*1090A>G rs1037998 0.99467
NM_198569.3(ADGRG6):c.1476G>A (p.Leu492=) rs989946 0.99467
NM_000526.5(KRT14):c.188G>A (p.Cys63Tyr) rs6503640 0.99456
NM_004958.4(MTOR):c.6034-30A>G rs1770344 0.99413
NM_012200.4(B3GAT3):c.258-50A>G rs4963224 0.99405
NM_003922.4(HERC1):c.3155-36G>A rs9920746 0.99401
NM_005993.5(TBCD):c.2039-43A>G rs1471197 0.99307
NM_000112.4(SLC26A2):c.1721T>C (p.Ile574Thr) rs30832 0.99306
NM_001291303.3(FAT4):c.7199+29T>G rs7656135 0.99289
NM_001291303.3(FAT4):c.7707G>C (p.Val2569=) rs988863 0.99289
NM_001291303.3(FAT4):c.11624G>A (p.Ser3875Asn) rs12650153 0.99272
NM_001291303.3(FAT4):c.6843+29G>T rs10010000 0.99271
NM_005045.4(RELN):c.*397G>A rs7811262 0.99261
NM_018359.5(UFSP2):c.333+11T>C rs10003160 0.99248
NM_021926.4(ALX4):c.621A>G (p.Ser207=) rs10769028 0.99242
NM_001126121.2(SLC25A19):c.289-26G>A rs4788882 0.99234
NM_001127649.3(PEX26):c.*2281T>C rs362209 0.99208
NM_024596.5(MCPH1):c.1175A>G (p.Asp392Gly) rs2515569 0.99154
NM_014762.4(DHCR24):c.1020+10A>G rs611057 0.99149
NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val) rs2147377 0.99149
NM_007255.3(B4GALT7):c.828+28A>G rs6600953 0.99130
NM_021926.4(ALX4):c.*2110A>G rs7105993 0.99108
NM_152419.3(HGSNAT):c.1749T>C (p.Tyr583=) rs1126058 0.99080
NM_004304.5(ALK):c.*298C>T rs1728828 0.99040
NM_004304.5(ALK):c.4381A>G (p.Ile1461Val) rs1670283 0.99030
NM_001291303.3(FAT4):c.5760T>C (p.Asp1920=) rs958415 0.99029
NM_001300759.2(TRIM36):c.1797-35T>G rs2921623 0.99007
NM_020297.4(ABCC9):c.1164+11= rs4762720 0.98998
NM_020297.4(ABCC9):c.1164+23= rs4762719 0.98997
NM_000719.7(CACNA1C):c.1895+304A>G rs1548732 0.98983
NM_001369268.1(ACAN):c.1809T>C (p.Ala603=) rs1568116 0.98973
NM_014762.4(DHCR24):c.*1824T>G rs654561 0.98973
NM_005045.4(RELN):c.8843+7G>C rs2711885 0.98938
NM_014243.3(ADAMTS3):c.2179+21G>A rs10024487 0.98931
NM_004168.4(SDHA):c.1795-66C>T rs387134 0.98913
NM_000027.4(AGA):c.699-25G>C rs4690521 0.98895
NM_004525.3(LRP2):c.79+15A>G rs1559013 0.98894
NM_024915.4(GRHL2):c.-24C>G rs515622 0.98894
NM_003937.3(KYNU):c.955+26C>T rs6430000 0.98885
NM_002968.3(SALL1):c.3823G>A (p.Val1275Ile) rs4614723 0.98884
NM_000112.4(SLC26A2):c.*3404C>T rs30833 0.98883
NM_005445.4(SMC3):c.3039A>G (p.Ser1013=) rs2419565 0.98861
NM_004260.4(RECQL4):c.3127T>C (p.Leu1043=) rs4925828 0.98841
NM_001367624.2(ZNF469):c.11856C>T (p.Ser3952=) rs4782362 0.98833
NM_002618.4(PEX13):c.*358G>A rs1177230 0.98833
NM_001080414.4(CCDC88C):c.1527+128A>G rs1285766 0.98802
NM_003334.4(UBA1):c.811+9C>G rs4239964 0.98795
NM_001367624.2(ZNF469):c.*788G>A rs3894713 0.98791
NM_000046.3(ARSB):c.-840_-839dup rs1255033691 0.98775
NM_000890.5(KCNJ5):c.844C>G (p.Gln282Glu) rs7102584 0.98759
NM_015311.3(OBSL1):c.4836A>G (p.Thr1612=) rs10932813 0.98738
NM_138425.4(C12orf57):c.230-75G>A rs2019743 0.98735
NM_003923.3(FOXH1):c.*20A>G rs2721176 0.98630
NM_005932.4(MIPEP):c.1462A>G (p.Ser488Gly) rs7333040 0.98618
NM_019040.5(ELP4):c.927+4C>A rs4922872 0.98610
NM_004618.5(TOP3A):c.1282-21G>A rs6502645 0.98602
NM_000318.3(PEX2):c.550T>C (p.Cys184Arg) rs10087163 0.98578
NM_033116.6(NEK9):c.*13G>A rs175487 0.98559
NM_005215.4(DCC):c.67T>C (p.Phe23Leu) rs9951523 0.98554
NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=) rs27673 0.98545
NM_000478.6(ALPL):c.473-70A>G rs1767428 0.98539
NM_004260.4(RECQL4):c.274T>C (p.Ser92Pro) rs2721190 0.98532
NM_213649.2(SFXN4):c.472-24T>A rs2420494 0.98520
NM_032634.4(PIGO):c.*41T>G rs556766 0.98454
NM_138295.5(PKD1L1):c.7173+31G>A rs6463449 0.98446
NM_001122659.3(EDNRB):c.552T>C (p.Ser184=) rs5348 0.98435
NM_001378778.1(MPDZ):c.1804-26G>C rs1331676 0.98425
NM_001371986.1(UNC80):c.3977-4C>A rs2370838 0.98394
NM_006907.4(PYCR1):c.903A>G (p.Ser301=) rs61747618 0.98394
NM_016580.4(PCDH12):c.3252A>G (p.Pro1084=) rs105633 0.98386
NM_018026.4(PACS1):c.2777-3T>C rs524268 0.98359
NM_213649.2(SFXN4):c.354A>G (p.Ala118=) rs2181118 0.98355
NM_000925.4(PDHB):c.435A>G (p.Arg145=) rs4264746 0.98352
NM_001142966.3(GREB1L):c.3555A>G (p.Glu1185=) rs4800747 0.98335
NM_015295.3(SMCHD1):c.4967-15G>T rs300291 0.98262
NM_020639.3(RIPK4):c.1996A>G (p.Met666Val) rs3746891 0.98229
NM_002010.3(FGF9):c.*9G>A rs9509842 0.98213
NM_000318.3(PEX2):c.*1194A>G rs4311633 0.98172
NM_005529.7(HSPG2):c.4029+32T>A rs2501266 0.98165
NM_016653.3(MAP3K20):c.670-11G>C rs11899707 0.98158
NM_002334.4(LRP4):c.1638A>G (p.Lys546=) rs10838631 0.98127
NM_000288.4(PEX7):c.340-71G>A rs927181 0.98050
NM_018714.3(COG1):c.1282-48T>C rs1026130 0.98047
NM_015311.3(OBSL1):c.5413+31T>A rs4672933 0.98019
NM_005236.3(ERCC4):c.974-7G>A rs254942 0.97995
NM_000059.4(BRCA2):c.4563A>G (p.Leu1521=) rs206075 0.97986
NM_001366722.1(GRIP1):c.2464+15T>C rs7970076 0.97982
NM_013432.5(TONSL):c.865+15G>C rs2242264 0.97931
NM_018249.6(CDK5RAP2):c.-3G>T rs932975 0.97921
NM_014780.5(CUL7):c.2439A>G (p.Gln813=) rs9394939 0.97892
NM_014780.5(CUL7):c.2438A>G (p.Gln813Arg) rs9381231 0.97891
NM_018131.5(CEP55):c.1191+89A>G rs7068719 0.97891
NM_001031725.6(DDX59):c.1314+23A>G rs2809365 0.97876
NM_005529.7(HSPG2):c.1912A>G (p.Met638Val) rs1874792 0.97869
NM_006662.3(SRCAP):c.4218C>A (p.Ser1406=) rs4889502 0.97867
NM_025074.7(FRAS1):c.470-35T>C rs1017646 0.97862
NM_001025389.2(AMPD3):c.*694A>G rs2169594 0.97808
NM_001329943.3(KIAA0586):c.3166C>G (p.Pro1056Ala) rs1617510 0.97670
NM_001017420.3(ESCO2):c.1013+35G>A rs1824449 0.97666
NM_000126.4(ETFA):c.*216A>T rs1803550 0.97654
NM_024408.4(NOTCH2):c.1108+30A>G rs2493409 0.97622
NM_002496.4(NDUFS8):c.59-22C>G rs3133266 0.97614
NM_000553.6(WRN):c.3572+25_3572+26insC rs3087415 0.97612
NM_018116.4(MSTO1):c.561-17A>G rs1200697 0.97601
NM_001370259.2(MEN1):c.1299T>C (p.His433=) rs540012 0.97595
NM_001329943.3(KIAA0586):c.1254-25G>A rs1743721 0.97577
NM_001329943.3(KIAA0586):c.2254+25A>G rs1743716 0.97575
NM_001329943.3(KIAA0586):c.2528T>C (p.Leu843Pro) rs1748986 0.97574
NM_000503.6(EYA1):c.*1581G>A rs9298163 0.97552
NM_001164508.2(NEB):c.9124T>C (p.Cys3042Arg) rs6710212 0.97529
NM_000396.4(CTSK):c.831A>G (p.Ala277=) rs10788796 0.97527
NM_004393.6(DAG1):c.41C>G (p.Ser14Trp) rs2131107 0.97526
NM_001999.4(FBN2):c.*635A>G rs27858 0.97464
NM_006182.4(DDR2):c.83-39C>G rs1632311 0.97439
NM_182760.4(SUMF1):c.*471T>G rs2259818 0.97410
NM_015100.4(POGZ):c.*30A>G rs6667714 0.97376
NM_001330311.2(DVL1):c.171-99A>G rs307361 0.97351
NM_001330311.2(DVL1):c.1715-602T>C rs307372 0.97350
NM_020312.4(COQ9):c.*490T>C rs223870 0.97315
NM_000088.4(COL1A1):c.3223= (p.Ala1075=) rs1800215 0.97286
NM_000168.6(GLI3):c.1356+11G>C rs846273 0.97240
NM_001759.4(CCND2):c.-49T>C rs3217786 0.97216
NM_025074.7(FRAS1):c.7132A>G (p.Lys2378Glu) rs7684722 0.97162
NM_012431.3(SEMA3E):c.1143+41A>G rs2709930 0.97100
NM_000135.4(FANCA):c.1225+151T>C rs6500451 0.97075
NM_000135.4(FANCA):c.2316+67A>G rs7200990 0.97043
NM_022725.4(FANCF):c.*632G>A rs444923 0.97022
NM_005557.4(KRT16):c.1281-16T>C rs7406899 0.96955
NM_006662.3(SRCAP):c.2064G>T (p.Arg688=) rs4889500 0.96842
NM_015311.3(OBSL1):c.4395T>C (p.Asp1465=) rs10932816 0.96819
NM_022725.4(FANCF):c.*819C>T rs450946 0.96809
NM_020779.4(WDR35):c.2824-14G>T rs1191779 0.96807
NM_025132.4(WDR19):c.603+23C>T rs1451817 0.96807
NM_001378452.1(ITPR1):c.6111T>C (p.Asn2037=) rs6442905 0.96699
NM_005445.4(SMC3):c.2116+23G>A rs7075340 0.96693
NM_194318.4(B3GLCT):c.348T>C (p.His116=) rs4943266 0.96681
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=) rs31304 0.96579
NM_004044.7(ATIC):c.-218A>G rs78631308 0.96445
NM_001429.4(EP300):c.2053+8G>T rs6002267 0.96326
NM_004826.4(ECEL1):c.982C>T (p.His328Tyr) rs1529874 0.96312
NM_001367561.1(DOCK7):c.6212+19G>A rs1168007 0.96294
NM_001128159.3(VPS53):c.1117-26T>C rs4968055 0.96284
NM_020461.4(TUBGCP6):c.4315+20T>C rs6537642 0.96249
NM_139284.3(LGI4):c.456T>C (p.His152=) rs1673007 0.96172
NM_001064.4(TKT):c.748+39C>G rs6445573 0.96164
NM_018249.6(CDK5RAP2):c.-19T>C rs932974 0.96160
NM_003638.3(ITGA8):c.2981T>C (p.Val994Ala) rs1041135 0.96141
NM_000553.6(WRN):c.96+26T>C rs2737316 0.96130
NM_000393.5(COL5A2):c.3411T>C (p.Gly1137=) rs6434312 0.96092
NM_015311.3(OBSL1):c.4733A>G (p.Gln1578Arg) rs10932814 0.96074
NM_021926.4(ALX4):c.467-45T>C rs11037929 0.95917
NM_001916.5(CYC1):c.226A>G (p.Met76Val) rs7820984 0.95875
NM_139125.4(MASP1):c.1374T>C (p.Pro458=) rs710452 0.95860
NM_004565.3(PEX14):c.169+34A>G rs2480779 0.95850
NM_001113378.2(FANCI):c.2547= (p.Lys849=) rs7183618 0.95848
NM_025074.7(FRAS1):c.7371+11T>C rs7664505 0.95846
NM_133459.4(CCBE1):c.401-29T>C rs4940876 0.95824
NM_000393.5(COL5A2):c.1311A>G (p.Pro437=) rs2229495 0.95762
NM_194318.4(B3GLCT):c.121-120G>C rs2147515 0.95735
NM_000071.3(CBS):c.1552+154T>C rs234701 0.95648
NM_005027.4(PIK3R2):c.937T>C (p.Ser313Pro) rs1011320 0.95640
NM_153717.3(EVC):c.769C>T (p.Leu257=) rs6446393 0.95639
NM_013432.5(TONSL):c.1291-44T>C rs2620650 0.95621
NM_023110.2(FGFR1):c.-751C>T rs2445003 0.95502
NM_133368.3(RSPRY1):c.1161+36T>C rs7206038 0.95456
NM_001378615.1(CC2D2A):c.4065+28A>T rs6832789 0.95451
NM_013352.4(DSE):c.1926T>C (p.Asn642=) rs560644 0.95438
NM_006182.4(DDR2):c.1504+25T>C rs1780003 0.95433
NM_003000.3(SDHB):c.201-36G>T rs1022580 0.95416
NM_015386.3(COG4):c.485C>T (p.Thr162Ile) rs3931036 0.95397
NM_003000.3(SDHB):c.18C>A (p.Ala6=) rs2746462 0.95374
NM_013432.5(TONSL):c.1368A>G (p.Leu456=) rs2306383 0.95365
NM_012208.4(HARS2):c.1461+36A>G rs2530234 0.95353
NM_001173467.3(SP7):c.1128T>C (p.His376=) rs7138938 0.95333
NM_005529.7(HSPG2):c.324C>T (p.Phe108=) rs2501260 0.95305
NM_001031725.6(DDX59):c.1431A>G (p.Ser477=) rs6665604 0.95223
NM_002465.4(MYBPC1):c.2544T>C (p.Ile848=) rs7139095 0.95112
NM_000318.3(PEX2):c.*2377A>G rs4388434 0.94963
NM_000318.3(PEX2):c.*727T>C rs4610720 0.94956
NM_207361.6(FREM2):c.5410+25T>C rs2442370 0.94938
NM_001128225.3(SLC39A13):c.83A>G (p.Glu28Gly) rs2010519 0.94826
NM_152515.5(CKAP2L):c.1123A>G (p.Ile375Val) rs6731822 0.94819
NM_002645.4(PIK3C2A):c.1239A>G (p.Ala413=) rs2302511 0.94735
NC_000001.11:g.230705941T>C rs7080 0.94659
NM_001282531.3(ADNP):c.*50A>C rs761240 0.94627
NM_000719.7(CACNA1C):c.2853+265G>C rs215983 0.94615
NM_005592.4(MUSK):c.1586+26T>C rs484010 0.94561
NM_145068.4(TRPV3):c.*1590T>C rs5818898 0.94551
NM_145068.4(TRPV3):c.*1591del rs57868197 0.94550
NM_005633.4(SOS1):c.2791+53C>T rs7577088 0.94549
NM_005529.7(HSPG2):c.3302+13G>A rs2501265 0.94485
NM_000046.4(ARSB):c.-302A>G rs163127 0.94480
NM_002465.4(MYBPC1):c.1633+33T>C rs1997204 0.94445
NM_032656.4(DHX37):c.1294-38T>C rs10773130 0.94401
NM_145068.4(TRPV3):c.*1841C>A rs2087892 0.94367
NM_005633.4(SOS1):c.2964+43C>A rs1454223 0.94284
NM_145068.4(TRPV3):c.*2437A>G rs4790502 0.94264
NM_145068.4(TRPV3):c.*2115G>A rs4790505 0.94221
NM_001145678.3(KIAA0825):c.3117T>C (p.Ser1039=) rs308207 0.94179
NM_001025389.2(AMPD3):c.*1052A>G rs9292 0.94087
NM_005633.4(SOS1):c.*2567T>A rs6704656 0.94064
NM_000719.7(CACNA1C):c.4141-312G>A rs216046 0.94005
NM_005413.4(SIX3):c.942A>G (p.Ala314=) rs338074 0.93956
NM_032208.3(ANTXR1):c.703+78T>G rs4241348 0.93937
NM_033109.5(PNPT1):c.1247+29C>T rs782604 0.93874
NM_003850.3(SUCLA2):c.*217T>C rs4941618 0.93675
NM_016138.5(COQ7):c.73+36T>G rs4531717 0.93661
NM_025074.7(FRAS1):c.604-8G>A rs2867014 0.93589
NM_001330288.2(SMARCC2):c.708+46A>C rs773644 0.93552
NM_005529.7(HSPG2):c.2109C>T (p.Ala703=) rs1874793 0.93527
NM_015375.3(DSTYK):c.1921T>C (p.Cys641Arg) rs3851294 0.93525
NM_152281.3(GORAB):c.21A>C (p.Gly7=) rs7531125 0.93522
NM_005529.7(HSPG2):c.2294A>G (p.Asn765Ser) rs989994 0.93519
NM_001126121.2(SLC25A19):c.339T>C (p.Tyr113=) rs7213318 0.93459
NM_005027.4(PIK3R2):c.700A>C (p.Ser234Arg) rs2241088 0.93443
NM_000393.5(COL5A2):c.315C>A (p.Thr105=) rs4128539 0.93266
NM_001300759.2(TRIM36):c.1996G>A (p.Asp666Asn) rs2974617 0.93155
NM_000404.4(GLB1):c.1561T>C (p.Cys521Arg) rs4302331 0.93112
NM_006371.5(CRTAP):c.*1858T>A rs4678476 0.93106
NM_014244.5(ADAMTS2):c.786G>A (p.Ala262=) rs423552 0.93088
NM_000466.3(PEX1):c.2331C>A (p.Gly777=) rs10278857 0.93013
NM_033109.5(PNPT1):c.867-47T>A rs782631 0.92991
NM_005633.4(SOS1):c.720+25C>G rs997344 0.92897
NM_006003.3(UQCRFS1):c.24A>G (p.Ser8=) rs11666764 0.92783
NM_000027.4(AGA):c.446C>G (p.Thr149Ser) rs2228119 0.92759
NM_022095.4(ZNF335):c.201+10C>G rs6017715 0.92719
NM_005529.7(HSPG2):c.1655-35G>A rs921847 0.92710
NM_025114.4(CEP290):c.6645+67G>A rs2471512 0.92687
NM_006003.3(UQCRFS1):c.16T>G (p.Ser6Ala) rs8100724 0.92663
NM_030957.4(ADAMTS10):c.1588-179G>T rs9749567 0.92646
NM_145068.4(TRPV3):c.*940G>A rs10852861 0.92565
NM_022095.4(ZNF335):c.2021-37C>T rs3746507 0.92505
NM_000478.6(ALPL):c.330T>C (p.Ser110=) rs1780316 0.92311
NM_000719.7(CACNA1C):c.1481+897C>G rs1034934 0.92301
NM_024596.5(MCPH1):c.513G>T (p.Arg171Ser) rs2442513 0.92258
NM_032208.3(ANTXR1):c.643-66G>A rs4854546 0.92047
NM_213720.3(CHCHD10):c.261+11A>G rs131444 0.92009
NM_153490.3(KRT13):c.892A>G (p.Thr298Ala) rs4796697 0.91638
NM_014704.4(CEP104):c.1836+7A>G rs6413779 0.91575
NM_014704.4(CEP104):c.744A>G (p.Glu248=) rs1891941 0.91572
NM_014704.4(CEP104):c.1837-28G>C rs2275826 0.91566
NM_000719.7(CACNA1C):c.6117+206G>A rs7956107 0.91563
NM_175629.2(DNMT3A):c.-786T>C rs1550117 0.91538
NM_001235.5(SERPINH1):c.234A>G (p.Leu78=) rs584961 0.91533
NM_018714.3(COG1):c.2383-17T>C rs3829571 0.91491
NM_001854.4(COL11A1):c.2295+37A>T rs2622867 0.91369
NM_016138.5(COQ7):c.74-29A>G rs4782202 0.91365
NM_007317.3(KIF22):c.1425G>A (p.Val475=) rs2450399 0.91348
NM_007317.3(KIF22):c.1230C>T (p.Ile410=) rs235648 0.91333
NM_213720.3(CHCHD10):c.48A>C (p.Pro16=) rs179468 0.91291
NM_152416.4(NDUFAF6):c.*16T>C rs2678832 0.91103
NM_001080414.4(CCDC88C):c.5975T>C (p.Leu1992Pro) rs941920 0.90936
NM_001151.4(SLC25A4):c.*512A>G rs7660552 0.90870
NM_015559.3(SETBP1):c.3825A>G (p.Ser1275=) rs8096662 0.90817
NM_022336.4(EDAR):c.655+30T>C rs260630 0.90817
NM_198525.3(KIF7):c.1102A>G (p.Thr368Ala) rs8037349 0.90740
NM_001174147.2(LMX1B):c.*2393T>C rs10120414 0.90738
NM_145068.4(TRPV3):c.*1229G>C rs1507615 0.90710
NM_000435.3(NOTCH3):c.4563A>G (p.Pro1521=) rs1044006 0.90693
NM_000435.3(NOTCH3):c.5913+28T>G rs4809029 0.90682
NM_000435.3(NOTCH3):c.5362+3T>C rs1548555 0.90675
NM_000435.3(NOTCH3):c.5816-8T>C rs4809030 0.90632
NM_001360.3(DHCR7):c.438T>C (p.Asn146=) rs949177 0.90629
NM_000435.3(NOTCH3):c.5815+36G>A rs2074618 0.90515
NM_000435.3(NOTCH3):c.5363-21G>A rs10416777 0.90510
NM_000435.3(NOTCH3):c.5363-17C>T rs2074619 0.90508
NM_000540.3(RYR1):c.1077T>C (p.Ala359=) rs10406027 0.90489
NM_194318.4(B3GLCT):c.781-125G>C rs1028751 0.90446
NM_005529.7(HSPG2):c.1507+38A>G rs4654994 0.90430
NM_182760.4(SUMF1):c.602+50G>A rs711666 0.90409
NM_001360.3(DHCR7):c.207T>C (p.Thr69=) rs1790334 0.90380
NM_001126121.2(SLC25A19):c.-155T>G rs2291033 0.90349
NM_001173467.3(SP7):c.1098C>T (p.Ser366=) rs7139272 0.90326
NM_001797.4(CDH11):c.811+13A>G rs35196 0.90306
NM_000335.5(SCN5A):c.3183A>G (p.Glu1061=) rs7430407 0.90302
NM_021926.4(ALX4):c.*3107A>G rs4755239 0.90297
NM_022336.4(EDAR):c.750C>T (p.Ser250=) rs260632 0.90287
NM_004715.5(CTDP1):c.2817T>C (p.Asp939=) rs626169 0.90284
NM_005751.5(AKAP9):c.3075C>T (p.Thr1025=) rs1989779 0.90157
NM_001797.4(CDH11):c.644-11T>C rs35194 0.90146
NM_014165.4(NDUFAF4):c.*382T>A rs1971475 0.90137
NM_000540.3(RYR1):c.1441-24T>C rs7254832 0.90133
NM_014165.4(NDUFAF4):c.420G>A (p.Gln140=) rs11402 0.90128
NM_018161.5(NADSYN1):c.799-5T>C rs2276353 0.89993
NM_018161.5(NADSYN1):c.705T>C (p.Cys235=) rs2276354 0.89934
NM_145068.4(TRPV3):c.*2272T>C rs4790504 0.89916
NM_022095.4(ZNF335):c.881G>C (p.Ser294Thr) rs6032606 0.89832
NM_000921.5(PDE3A):c.1194C>T (p.Val398=) rs10743380 0.89795
NM_016938.5(EFEMP2):c.775A>G (p.Ile259Val) rs601314 0.89787
NM_000921.5(PDE3A):c.2769+30C>T rs9284155 0.89678
NM_000138.5(FBN1):c.*730G>T rs13598 0.89602
NM_004004.6(GJB2):c.*1152G>A rs7623 0.89599
NM_207346.3(TSEN54):c.1122G>C (p.Arg374=) rs6501820 0.89534
NM_000352.6(ABCC8):c.2390+219T>C rs4148632 0.89524
NM_020745.4(AARS2):c.1015A>G (p.Ile339Val) rs324136 0.89518
NM_000352.6(ABCC8):c.2256-50T>C rs4148626 0.89459
NM_020247.5(COQ8A):c.730+260T>C rs1888826 0.89455
NM_001370259.2(MEN1):c.1621A>G (p.Thr541Ala) rs2959656 0.89377
NM_014822.4(SEC24D):c.673+8G>A rs6843524 0.89370
NM_001367624.2(ZNF469):c.5661C>G (p.Thr1887=) rs9931465 0.89293
NM_001367624.2(ZNF469):c.3522G>A (p.Pro1174=) rs9938800 0.89252
NM_000430.4(PAFAH1B1):c.568+27C>T rs3213696 0.89105
NM_022114.4(PRDM16):c.1597T>C (p.Ser533Pro) rs870124 0.89071
NM_006939.4(SOS2):c.213+37C>G rs1075537 0.88797
NM_007118.4(TRIO):c.5100A>C (p.Thr1700=) rs30612 0.88742
NM_002203.4(ITGA2):c.*721A>C rs1109527 0.88662
NM_014423.4(AFF4):c.1227-69dup rs34099243 0.88635
NM_000719.7(CACNA1C):c.1508+317C>T rs2370598 0.88631
NM_000719.7(CACNA1C):c.1508+316G>A rs2370597 0.88628
NM_194318.4(B3GLCT):c.850+151A>G rs1409373 0.88627
NM_138425.4(C12orf57):c.52+26A>G rs915997 0.88599
NM_014317.5(PDSS1):c.609+46A>G rs1780196 0.88595
NM_004304.5(ALK):c.27C>G (p.Leu9=) rs4358080 0.88526
NM_015425.6(POLR1A):c.1258-19A>G rs2288117 0.88485
NM_000404.4(GLB1):c.34T>C (p.Leu12=) rs7614776 0.88431
NM_001127649.3(PEX26):c.*2051A>G rs361946 0.88398
NM_000479.5(AMH):c.1239T>A (p.Gly413=) rs7252789 0.88393
NM_001127649.3(PEX26):c.*987T>C rs361807 0.88380
NM_006031.6(PCNT):c.2111G>A (p.Gly704Glu) rs2839223 0.88373
NM_006031.6(PCNT):c.2556T>C (p.Ala852=) rs8131546 0.88316
NM_130837.3(OPA1):c.1035+4T>C rs166850 0.88294
NM_017617.5(NOTCH1):c.1669+9T>C rs3125006 0.88208
NM_001374353.1(GLI2):c.1060-27C>T rs2592591 0.88085
NM_001042492.3(NF1):c.7189+37C>G rs7405740 0.88082
NM_000183.3(HADHB):c.*136G>C rs1056471 0.88075
NM_000280.4(PAX6):c.*3202G>A rs608293 0.88020
NM_000942.5(PPIB):c.529-21G>A rs2253557 0.88009
NC_000021.9:g.43076866C>G rs2850144 0.88000
NM_020745.4(AARS2):c.*1359A>G rs534416 0.87948
NM_000280.4(PAX6):c.*2893_*2896dupATTT rs397795797 0.87931
NM_020745.4(AARS2):c.2871A>G (p.Ser957=) rs325008 0.87930
NM_152419.3(HGSNAT):c.*1801T>C rs3739431 0.87926
NM_004370.6(COL12A1):c.5871T>A (p.Ala1957=) rs594012 0.87913
NM_020745.4(AARS2):c.*341G>A rs4714775 0.87863
NM_020745.4(AARS2):c.*366T>C rs325010 0.87836
NM_001126121.2(SLC25A19):c.*2T>C rs1809352 0.87805
NM_020745.4(AARS2):c.2683-20A>G rs325007 0.87773
NM_020745.4(AARS2):c.*423G>A rs325011 0.87741
NM_020745.4(AARS2):c.2598+117G>C rs325005 0.87685
NM_025114.4(CEP290):c.853-12_853-11insG rs71082425 0.87640
NM_001366722.1(GRIP1):c.2461C>G (p.Gln821Glu) rs13277 0.87545
NM_015340.4(LARS2):c.2358A>G (p.Val786=) rs267220 0.87505
NM_006031.6(PCNT):c.3113T>C (p.Val1038Ala) rs6518289 0.87478
NM_006939.4(SOS2):c.2667+43G>A rs2064667 0.87379
NM_006031.6(PCNT):c.2928C>G (p.Leu976=) rs2839228 0.87375
NM_000435.3(NOTCH3):c.1192+15A>G rs10423702 0.87325
NM_000435.3(NOTCH3):c.606A>G (p.Ala202=) rs1043994 0.87319
NM_000079.4(CHRNA1):c.1003-53A>G rs2646159 0.87287
NM_001814.6(CTSC):c.458T>C (p.Ile153Thr) rs217086 0.87257
NM_006939.4(SOS2):c.1197-32G>A rs4900992 0.87236
NM_001367624.2(ZNF469):c.4343C>T (p.Pro1448Leu) rs4782300 0.87223
NM_016213.5(TRIP4):c.1596G>A (p.Glu532=) rs7167612 0.87160
NM_000478.6(ALPL):c.*126A>G rs1697406 0.87087
NM_001793.6(CDH3):c.390+37T>C rs2296410 0.87073
NM_153490.3(KRT13):c.114C>T (p.Ser38=) rs8182306 0.87031
NM_000393.5(COL5A2):c.322+157C>T rs4128538 0.86911
NM_022336.4(EDAR):c.*42G>T rs7607563 0.86887
NM_138295.5(PKD1L1):c.3814A>G (p.Lys1272Glu) rs1470859 0.86841
NM_001395413.1(POR):c.1446T>C (p.Ala482=) rs2228104 0.86727
NM_001367624.2(ZNF469):c.1776A>G (p.Pro592=) rs12927001 0.86712
NM_001366686.3(SIK3):c.2315+45C>A rs2075292 0.86688
NM_005327.7(HADH):c.257T>C (p.Leu86Pro) rs4956145 0.86661
NM_012293.3(PXDN):c.3921A>G (p.Val1307=) rs6730800 0.86660
NM_000466.3(PEX1):c.358-15G>A rs38809 0.86650
NM_005993.5(TBCD):c.3290A>G (p.Glu1097Gly) rs3785522 0.86579
NM_001360.3(DHCR7):c.*734A>G rs7690 0.86392
NM_000435.3(NOTCH3):c.5913+55A>G rs757472 0.86388
NM_001916.5(CYC1):c.99T>G (p.Arg33=) rs11541475 0.86270
NM_002472.3(MYH8):c.714T>C (p.Thr238=) rs8068729 0.86257
NM_001360.3(DHCR7):c.832-80T>C rs949176 0.86228
NM_001753.5(CAV1):c.30+214A>C rs1997623 0.86226
NM_006371.5(CRTAP):c.1152+36C>A rs4234239 0.86128
NM_015340.4(LARS2):c.2169T>C (p.Ala723=) rs2170549 0.85995
NM_000088.4(COL1A1):c.2028+39C>T rs2857396 0.85962
NM_016011.5(MECR):c.597A>G (p.Ala199=) rs1062924 0.85930
NM_001104631.2(PDE4D):c.1552+37C>T rs3805556 0.85918
NM_002181.4(IHH):c.1128T>C (p.Thr376=) rs394452 0.85910
NM_001360.3(DHCR7):c.1158T>C (p.Asp386=) rs760241 0.85831
NM_000124.4(ERCC6):c.1992+32A>G rs4253162 0.85763
NM_001367624.2(ZNF469):c.4419T>G (p.Ser1473=) rs12445417 0.85761
NM_030631.4(SLC25A21):c.71-21_71-20insC rs5807914 0.85706
NM_182961.4(SYNE1):c.17203-48G>A rs4112833 0.85656
NM_004553.6(NDUFS6):c.132+26A>C rs2242412 0.85626
NM_001379081.2(FREM1):c.4791T>C (p.Asp1597=) rs1032474 0.85601
NM_005027.4(PIK3R2):c.1911T>C (p.Ser637=) rs273269 0.85598
NM_174916.3(UBR1):c.4700+12A>G rs2054389 0.85593
NM_174916.3(UBR1):c.862-18C>T rs4924704 0.85492
NM_001793.6(CDH3):c.*154G>T rs1886699 0.85426
NM_001164508.2(NEB):c.294+52T>G rs4664499 0.85425
NM_198525.3(KIF7):c.2658A>C (p.Ala886=) rs3803531 0.85312
NM_001206999.2(CIT):c.3324A>G (p.Arg1108=) rs278109 0.85234
NM_001378615.1(CC2D2A):c.247+26A>G rs10000250 0.85216
NM_001916.5(CYC1):c.772+19_772+20del rs200379271 0.85101
NM_000203.5(IDUA):c.99T>G (p.His33Gln) rs10794537 0.85085
NM_004426.3(PHC1):c.918A>G (p.Arg306=) rs1805777 0.85023
NM_181458.4(PAX3):c.129T>C (p.Gly43=) rs12623857 0.84982
NM_018249.6(CDK5RAP2):c.196-66A>G rs954214 0.84919
NM_022455.5(NSD1):c.6829T>C (p.Leu2277=) rs28580074 0.84910
NM_000890.5(KCNJ5):c.*410C>T rs2846675 0.84898
NM_018161.5(NADSYN1):c.744T>C (p.Ile248=) rs2186778 0.84884
NM_000046.3(ARSB):c.-1178A>G rs163126 0.84841
NM_000890.5(KCNJ5):c.171T>C (p.Ser57=) rs6590357 0.84812
NM_001137601.3(ZBTB42):c.45A>G (p.Arg15=) rs12878684 0.84662
NM_001395413.1(POR):c.1058-13C>G rs4732516 0.84641
NM_001378183.1(PIEZO2):c.2305C>T (p.Leu769=) rs6505592 0.84626
NM_001395413.1(POR):c.1390-34T>C rs2302431 0.84626
NM_001395413.1(POR):c.1390-33G>T rs2302432 0.84588
NM_001360.3(DHCR7):c.*643C>T rs1044535 0.84530
NM_001367624.2(ZNF469):c.1098A>C (p.Arg366Ser) rs11640794 0.84448
NM_000124.4(ERCC6):c.1821+7C>T rs4253132 0.84443
NM_001378183.1(PIEZO2):c.2492+48del rs3830641 0.84419
NM_182476.3(COQ6):c.1210+13A>G rs7141392 0.84418
NM_004766.3(COPB2):c.141+20G>T rs7373302 0.84378
NM_000890.5(KCNJ5):c.834T>C (p.His278=) rs7118833 0.84299
NM_012293.3(PXDN):c.4206+79G>A rs6742040 0.84241
NM_000286.3(PEX12):c.-428T>C rs321600 0.84193
NM_000890.5(KCNJ5):c.810T>G (p.Leu270=) rs7118824 0.84187
NM_001276345.2(TNNT2):c.163+120T>C rs3729842 0.84150
NM_138295.5(PKD1L1):c.7963-33A>G rs1466203 0.84115
NM_018249.6(CDK5RAP2):c.865G>C (p.Glu289Gln) rs4836822 0.84114
NM_004782.4(SNAP29):c.*2816A>G rs165739 0.84087
NM_001173990.3(TMEM216):c.264G>A (p.Pro88=) rs3741265 0.84043
NM_020975.6(RET):c.3187+47T>C rs2075912 0.84041
NM_001083614.2(EARS2):c.1369A>G (p.Ser457Gly) rs6497671 0.84008
NM_001851.6(COL9A1):c.1504-32T>G rs633762 0.83978
NM_030928.4(CDT1):c.915T>C (p.His305=) rs510862 0.83978
NM_001173990.3(TMEM216):c.432-11_432-10insA rs11382548 0.83974
NM_078470.6(COX15):c.*1126T>C rs2231687 0.83974
NM_174916.3(UBR1):c.2379+29G>T rs3736054 0.83957
NM_005921.2(MAP3K1):c.1284G>A (p.Thr428=) rs832575 0.83950
NM_004376.5(COX15):c.*3566C>T rs2300983 0.83937
NM_001360.3(DHCR7):c.831+69G>A rs1792265 0.83923
NM_001083614.2(EARS2):c.606C>G (p.Val202=) rs2073951 0.83916
NM_001083614.2(EARS2):c.*12T>G rs1468138 0.83903
NM_002272.4(KRT4):c.1346+15A>G rs931479 0.83879
NM_001360.3(DHCR7):c.964-67C>T rs1792268 0.83849
NM_144508.5(KNL1):c.2728A>G (p.Arg910Gly) rs8040502 0.83792
NM_144508.5(KNL1):c.259A>G (p.Thr87Ala) rs12911738 0.83758
NM_032888.4(COL27A1):c.2619+62T>C rs2015408 0.83747
NM_001378183.1(PIEZO2):c.4708+18C>T rs5024299 0.83716
NM_001369268.1(ACAN):c.5293A>G (p.Ile1765Val) rs4932439 0.83680
NM_153490.3(KRT13):c.735+10A>G rs7211835 0.83623
NM_017780.4(CHD7):c.2238+39G>A rs4540437 0.83608
NM_002272.4(KRT4):c.678-14G>A rs2307027 0.83484
NM_001379081.2(FREM1):c.1262-33G>C rs2642404 0.83411
NM_015922.3(NSDHL):c.132T>G (p.Gly44=) rs5969919 0.83345
NM_005982.4(SIX1):c.*334C>G rs10144415 0.83338
NM_020754.4(ARHGAP31):c.2407G>A (p.Gly803Ser) rs3732413 0.83326
NM_001378183.1(PIEZO2):c.3036A>G (p.Thr1012=) rs7227167 0.83322
NM_018249.6(CDK5RAP2):c.1093-27A>G rs2095064 0.83235
NM_006939.4(SOS2):c.2057+34T>C rs3736761 0.83210
NM_213599.3(ANO5):c.267T>C (p.Asp89=) rs4312063 0.83210
NM_213599.3(ANO5):c.-136G>C rs12792259 0.83191
NM_006939.4(SOS2):c.2057+38C>T rs3736760 0.83188
NM_000208.4(INSR):c.*104A>G rs1051690 0.83181
NM_003922.4(HERC1):c.12879A>T (p.Ile4293=) rs10851731 0.83149
NM_016011.5(MECR):c.286T>C (p.Phe96Leu) rs1128400 0.83145
NM_032888.4(COL27A1):c.3609+35C>T rs2636866 0.83116
NM_003922.4(HERC1):c.9223+19T>C rs2272209 0.83099
NM_020975.6(RET):c.*1506G>A rs2742241 0.83094
NM_003922.4(HERC1):c.9093G>A (p.Pro3031=) rs2228511 0.83085
NM_003922.4(HERC1):c.5087G>C (p.Gly1696Ala) rs2255243 0.83065
NM_133459.4(CCBE1):c.*3805T>C rs4940462 0.82960
NM_133459.4(CCBE1):c.*4749C>T rs1048006 0.82939
NM_133459.4(CCBE1):c.*4398C>A rs6567083 0.82900
NM_001169109.2(SCO2):c.-14+522A>G rs131805 0.82861
NM_000890.5(KCNJ5):c.*928C>T rs7925056 0.82830
NM_002272.4(KRT4):c.*269A>G rs2035879 0.82793
NM_013275.6(ANKRD11):c.2772C>T (p.Thr924=) rs2279349 0.82790
NM_005559.4(LAMA1):c.5380-13G>A rs617573 0.82747
NM_007373.4(SHOC2):c.1161+42T>C rs1980869 0.82744
NM_005559.4(LAMA1):c.5496+20A>G rs616722 0.82650
NM_001374353.1(GLI2):c.801G>A (p.Ser267=) rs2592595 0.82634
NM_014141.6(CNTNAP2):c.*4797G>C rs2717829 0.82590
NM_133459.4(CCBE1):c.*2372C>T rs9959080 0.82464
NM_001083614.2(EARS2):c.*1594C>T rs9707 0.82452
NM_025215.6(PUS1):c.303+89G>T rs10902480 0.82359
NM_133459.4(CCBE1):c.*2242T>C rs9948686 0.82319
NM_015100.4(POGZ):c.1779+39C>T rs3748550 0.82270
NM_015100.4(POGZ):c.-6A>G rs12125310 0.82249
NM_182961.4(SYNE1):c.15043T>A (p.Leu5015Met) rs2306916 0.82174
NM_000719.7(CACNA1C):c.1670-52C>T rs2370602 0.82155
NM_152594.3(SPRED1):c.291G>A (p.Lys97=) rs7182445 0.82029
NM_003282.4(TNNI2):c.60T>C (p.Ser20=) rs907610 0.82025
NM_152594.3(SPRED1):c.424-8C>A rs7180446 0.82015
NM_001330078.2(NRXN1):c.4129-30181T>C rs9636391 0.82006
NM_001374353.1(GLI2):c.149-274C>G rs6745937 0.82005
NM_152594.3(SPRED1):c.1044T>C (p.Val348=) rs3751526 0.81965
NM_003383.5(VLDLR):c.-69A>G rs12379259 0.81906
NM_001134831.2(AHI1):c.1780-14C>T rs2757645 0.81825
NM_004187.5(KDM5C):c.2243+11G>T rs1977364 0.81756
NM_133459.4(CCBE1):c.*4796G>A rs1048008 0.81742
NM_032888.4(COL27A1):c.2016+192T>C rs10739406 0.81741
NM_001854.4(COL11A1):c.4603T>C (p.Ser1535Pro) rs1676486 0.81716
NM_001378183.1(PIEZO2):c.3867C>T (p.Asn1289=) rs7407105 0.81713
NM_000089.4(COL1A2):c.936+14C>T rs42518 0.81710
NM_015311.3(OBSL1):c.2168G>A (p.Arg723Lys) rs1039898 0.81697
NM_001104631.2(PDE4D):c.922-42T>C rs7724713 0.81685
NM_001104631.2(PDE4D):c.1287+6G>A rs1553114 0.81559
NM_152594.3(SPRED1):c.684+49_684+50insTT rs61670754 0.81547
NM_001378183.1(PIEZO2):c.3451-28T>C rs2865119 0.81541
NM_001083614.2(EARS2):c.*1443C>G rs6497669 0.81426
NM_020461.4(TUBGCP6):c.1700T>C (p.Leu567Ser) rs4838865 0.81410
NM_024537.4(CARS2):c.987+292T>G rs376834 0.81351
NM_021926.4(ALX4):c.*547A>G rs4755796 0.81277
NM_031307.4(PUS3):c.7T>G (p.Tyr3Asp) rs622756 0.81276
NM_153490.3(KRT13):c.897+6C>T rs4796698 0.81266
NM_000089.4(COL1A2):c.937-3C>T rs42519 0.81243
NM_019851.3(FGF20):c.144G>C (p.Ala48=) rs10448135 0.81216
NM_005702.4(ERAL1):c.945C>T (p.Asp315=) rs2242345 0.81174
NM_000233.4(LHCGR):c.866+8G>A rs6755901 0.81104
NM_001164508.2(NEB):c.3901T>C (p.Tyr1301His) rs6711382 0.81103
NM_003630.3(PEX3):c.*319A>T rs223234 0.81061
NM_003705.5(SLC25A12):c.99T>C (p.Tyr33=) rs1878583 0.81051
NM_006147.4(IRF6):c.*1893C>T rs680331 0.81024
NM_006757.4(TNNT3):c.83-48A>G rs629990 0.81000
NM_006757.4(TNNT3):c.107-115T>C rs2292471 0.80994
NM_015272.5(RPGRIP1L):c.1104-82C>T rs4133017 0.80982
NM_015311.3(OBSL1):c.921T>C (p.Leu307=) rs10180675 0.80936
NM_001367624.2(ZNF469):c.*1001A>G rs3848234 0.80892
NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr) rs6911096 0.80856
NM_018451.5(CPAP):c.3216+7A>G rs9318917 0.80822
NM_003477.3(PDHX):c.*644C>A rs7808 0.80809
NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala) rs42524 0.80779
NM_001330311.2(DVL1):c.-45C>T rs150789461 0.80772
NM_005633.4(SOS1):c.*1844A>G rs10166395 0.80685
NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg) rs9479297 0.80638
NM_000335.5(SCN5A):c.87A>G (p.Ala29=) rs6599230 0.80621
NM_016011.5(MECR):c.176+19G>A rs2640466 0.80531
NM_006912.6(RIT1):c.430-7C>T rs1749409 0.80479
NM_006912.6(RIT1):c.-21G>C rs493446 0.80472
NM_004360.5(CDH1):c.48+181G>C rs3743675 0.80468
NM_004360.5(CDH1):c.48+6C>T rs3743674 0.80384
NM_000719.7(CACNA1C):c.5445-584A>G rs10774053 0.80326
NM_182961.4(SYNE1):c.12352-39A>G rs9479298 0.80324
NM_015100.4(POGZ):c.568+34T>C rs6587577 0.80243
NM_018136.5(ASPM):c.7566A>G (p.Leu2522=) rs1412640 0.80210
NM_012205.3(HAAO):c.81-10C>T rs3816184 0.80170
NM_001077446.4(TSEN34):c.795= (p.Pro265=) rs7595 0.80164
NM_001077446.4(TSEN34):c.*497= rs36621 0.80151
NM_001308093.3(GATA4):c.617-113T>C rs3735819 0.80128
NM_001378452.1(ITPR1):c.7635T>C (p.Thr2545=) rs711631 0.80127
NM_181486.4(TBX5):c.*1101A>G rs6489956 0.80110
NM_004813.4(PEX16):c.542-16C>T rs3802758 0.80104
NM_001367624.2(ZNF469):c.3568A>G (p.Lys1190Glu) rs7197071 0.80067
NM_058179.4(PSAT1):c.-12G>C rs2277148 0.80020
NM_014865.4(NCAPD2):c.247C>G (p.Gln83Glu) rs714774 0.79942
NM_014875.3(KIF14):c.3096A>G (p.Glu1032=) rs6665951 0.79936
NM_003849.4(SUCLG1):c.*163T>C rs2832 0.79934
NM_000218.3(KCNQ1):c.477+4901A>G rs179436 0.79915
NM_001122681.2(SH3BP2):c.300T>C (p.His100=) rs3213501 0.79911
NM_001005498.4(RHBDF2):c.536C>T (p.Pro179Leu) rs3744045 0.79851
NM_000501.4(ELN):c.1315+17C>T rs2856728 0.79828
NM_000478.6(ALPL):c.473-148G>A rs1256335 0.79778
NM_021252.5(RAB18):c.*3803_*3804insT rs3832657 0.79694
NM_021926.4(ALX4):c.778-117T>C rs10742699 0.79676
NM_020975.6(RET):c.73+9277T>C rs2435357 0.79636
NM_006757.4(TNNT3):c.681+63T>C rs513735 0.79566
NM_001844.5(COL2A1):c.-119C>T rs3803182 0.79564
NM_176787.5(PIGN):c.685C>G (p.His229Asp) rs9320001 0.79552
NM_020975.6(RET):c.2307G>T (p.Leu769=) rs1800861 0.79547
NM_000719.7(CACNA1C):c.5681-77C>T rs2270373 0.79539
NM_020964.3(EPG5):c.6621+29A>G rs3826633 0.79509
NM_030957.4(ADAMTS10):c.401= (p.Ser134=) rs7255721 0.79500
NM_004525.3(LRP2):c.12280A>G (p.Lys4094Glu) rs2075252 0.79497
NM_017780.4(CHD7):c.2614-45A>G rs6471902 0.79408
NM_006907.4(PYCR1):c.138+37C>T rs34419046 0.79384
NM_212482.4(FN1):c.44A>T (p.Gln15Leu) rs1250259 0.79353
NM_012205.3(HAAO):c.109A>G (p.Ile37Val) rs3816183 0.79336
NM_001844.5(COL2A1):c.654+15T>G rs1034762 0.79333
NM_004304.5(ALK):c.1500A>G (p.Gln500=) rs2293564 0.79300
NM_144508.5(KNL1):c.1378G>T (p.Ala460Ser) rs2412541 0.79293
NM_144508.5(KNL1):c.128G>C (p.Arg43Thr) rs7177192 0.79283
NM_020975.6(RET):c.135A>G (p.Ala45=) rs1800858 0.79274
NM_020639.3(RIPK4):c.*90T>C rs6586232 0.79267
NM_014865.4(NCAPD2):c.2566+30A>T rs7311174 0.79246
NM_002449.5(MSX2):c.*1176G>C rs2890849 0.79238
NM_014865.4(NCAPD2):c.3300T>C (p.Arg1100=) rs2072374 0.79236
NM_032888.4(COL27A1):c.3786T>C (p.Tyr1262=) rs2787330 0.79146
NM_001369268.1(ACAN):c.6423T>C (p.Leu2141=) rs1042631 0.79144
NM_001166114.2(PNPLA6):c.2465+41C>G rs534464 0.79112
NM_002495.4(NDUFS4):c.312A>G (p.Arg104=) rs31303 0.79100
NM_005633.4(SOS1):c.*3918T>C rs1043793 0.79061
NM_005633.4(SOS1):c.*3539T>C rs1037495 0.79060
NM_000860.6(HPGD):c.*1726C>T rs2612691 0.79043
NM_000860.6(HPGD):c.*1725G>A rs2555660 0.79041
NM_004813.4(PEX16):c.873T>C (p.Tyr291=) rs1132349 0.79011
NM_025074.7(FRAS1):c.1947T>C (p.His649=) rs345514 0.79008
NM_182961.4(SYNE1):c.1463+24G>T rs4523096 0.78969
NM_015338.6(ASXL1):c.719-100C>T rs2295765 0.78948
NM_005529.7(HSPG2):c.13050A>G (p.Ser4350=) rs897467 0.78919
NM_018451.5(CENPJ):c.3478-49C>T rs1530876 0.78901
NM_021074.5(NDUFV2):c.86T>C (p.Val29Ala) rs906807 0.78836
NM_015340.4(LARS2):c.1053T>C (p.Leu351=) rs7610357 0.78771
NM_015340.4(LARS2):c.1455G>A (p.Ala485=) rs2128361 0.78756
NM_003477.3(PDHX):c.63C>T (p.Pro21=) rs2956109 0.78720
NM_133459.4(CCBE1):c.*4945C>A rs1129748 0.78704
NM_005631.5(SMO):c.1164G>C (p.Gly388=) rs2228617 0.78614
NM_002010.3(FGF9):c.447A>G (p.Ser149=) rs9509841 0.78590
NM_005631.5(SMO):c.1264+41A>G rs2735842 0.78562
NM_080680.3(COL11A2):c.2700T>C (p.Asp900=) rs2229785 0.78559
NM_020975.6(RET):c.73+9494A>C rs2506004 0.78499
NM_003477.2(PDHX):c.-302A>G rs2956112 0.78475
NM_006953.4(UPK3A):c.460G>C (p.Ala154Pro) rs1057353 0.78464
NM_005631.5(SMO):c.538-26C>T rs2703091 0.78431
NM_001122681.2(SH3BP2):c.517+32T>C rs2269485 0.78376
NM_001137601.3(ZBTB42):c.694G>A (p.Glu232Lys) rs4983387 0.78331
NM_002449.5(MSX2):c.386T>C (p.Met129Thr) rs4242182 0.78320
NM_005921.2(MAP3K1):c.351G>C (p.Ala117=) rs28710284 0.78277
NM_001378183.1(PIEZO2):c.3081C>T (p.Leu1027=) rs7241380 0.78175
NM_001164508.2(NEB):c.402+101A>G rs4300824 0.78142
NM_002470.4(MYH3):c.4957-16G>C rs2239936 0.78067
NM_032888.4(COL27A1):c.2170-87T>C rs2567720 0.78058
NM_003638.3(ITGA8):c.444+14G>A rs1954181 0.77958
NM_014865.4(NCAPD2):c.3801A>G (p.Val1267=) rs1043262 0.77887
NM_001367624.2(ZNF469):c.11757A>G (p.Pro3919=) rs4782301 0.77860
NM_182943.3(PLOD2):c.338+4G>A rs4681297 0.77857
NM_080680.3(COL11A2):c.3150+15A>C rs2855436 0.77853
NM_012473.4(TXN2):c.387+30A>C rs2281082 0.77835
NM_080680.3(COL11A2):c.2484+22C>G rs2744512 0.77793
NM_058179.4(PSAT1):c.570+44G>T rs944513 0.77720
NM_004415.4(DSP):c.1141-44C>T rs2076296 0.77690
NM_005921.2(MAP3K1):c.3190A>C (p.Arg1064=) rs832583 0.77675
NM_005921.2(MAP3K1):c.2716G>A (p.Val906Ile) rs832582 0.77671
NM_152594.3(SPRED1):c.*4662T>A rs10852019 0.77666
NM_017780.4(CHD7):c.4533+46A>G rs7844902 0.77651
NM_006796.3(AFG3L2):c.1650A>G (p.Glu550=) rs11553521 0.77624
NM_015425.6(POLR1A):c.448C>G (p.Pro150Ala) rs4832242 0.77586
NM_005529.7(HSPG2):c.7738-14T>C rs3767138 0.77496
NM_002615.7(SERPINF1):c.963T>C (p.Tyr321=) rs6828 0.77455
NC_000010.11:g.43077059A>G rs10900296 0.77447
NM_024537.4(CARS2):c.987+247T>C rs2296658 0.77296
NM_004415.4(DSP):c.3084+28G>A rs2842691 0.77273
NM_001374353.1(GLI2):c.643+35T>C rs12617878 0.77226
NM_001374353.1(GLI2):c.643+24G>A rs12614482 0.77219
NM_018136.5(ASPM):c.*81C>T rs12677 0.77214
NM_018136.5(ASPM):c.10331+8A>G rs10754213 0.77181
NM_018136.5(ASPM):c.1922-41G>A rs1332663 0.77179
NM_018136.5(ASPM):c.3579T>A (p.Ser1193=) rs4915337 0.77164
NM_024537.4(CARS2):c.852A>G (p.Glu284=) rs4628819 0.77143
NM_001369268.1(ACAN):c.1623C>A (p.Pro541=) rs2272023 0.77115
NM_000093.5(COL5A1):c.*2395G>T rs4504708 0.76943
NM_000435.3(NOTCH3):c.2742A>G (p.Pro914=) rs1043997 0.76937
NM_025114.4(CEP290):c.2818-50G>C rs2471532 0.76931
NM_000435.3(NOTCH3):c.2792+21G>A rs11669982 0.76928
NM_017780.4(CHD7):c.2376+43_2376+48dup rs5891777 0.76905
NM_006412.4(AGPAT2):c.*157C>T rs4880119 0.76858
NM_004415.4(DSP):c.2091A>G (p.Gly697=) rs2076304 0.76849
NM_002449.5(MSX2):c.*1125A>G rs14459 0.76842
NM_004836.7(EIF2AK3):c.2110G>T (p.Ala704Ser) rs1805165 0.76783
NM_024120.5(NDUFAF5):c.264-108A>G rs6042362 0.76777
NM_017780.4(CHD7):c.1665+34G>A rs7836586 0.76770
NM_005529.7(HSPG2):c.11562+19C>T rs3736355 0.76763
NM_152594.3(SPRED1):c.*5110C>T rs8026118 0.76725
NM_015937.6(PIGT):c.1620T>C (p.Tyr540=) rs707577 0.76713
NM_005184.4(CALM3):c.4-73T>C rs3729510 0.76680
NM_001166114.2(PNPLA6):c.2634+39T>C rs599330 0.76480
NM_002860.4(ALDH18A1):c.88+126A>C rs9787589 0.76474
NM_024678.6(NARS2):c.260A>C (p.Asn87Thr) rs10501429 0.76474
NM_005184.4(CALM3):c.178+66T>C rs3729760 0.76459
NM_003705.5(SLC25A12):c.210-21A>G rs2056202 0.76440
NM_002449.5(MSX2):c.*510A>G rs2381939 0.76399
NM_006329.4(FBLN5):c.945T>C (p.Ile315=) rs2430347 0.76291
NM_000104.4(CYP1B1):c.*695G>T rs10916 0.76280
NM_001743.6(CALM2):c.421+97G>C rs2454084 0.76235
NM_025136.4(OPA3):c.*6790T>C rs10422253 0.76137
NM_006757.4(TNNT3):c.32-149A>T rs2734500 0.76033
NM_000719.7(CACNA1C):c.4727-231T>C rs7136355 0.76028
NM_000093.5(COL5A1):c.*83C>T rs13946 0.76018
NM_004456.5(EZH2):c.246+37T>C rs10274535 0.75951
NM_021939.4(FKBP10):c.*402T>A rs1043002 0.75914
NM_001853.4(COL9A3):c.1740T>C (p.Pro580=) rs2294995 0.75903
NM_001614.5(ACTG1):c.918C>T (p.Tyr306=) rs1139405 0.75861
NM_021939.4(FKBP10):c.*421C>G rs1043005 0.75834
NM_021939.4(FKBP10):c.*422C>G rs1043007 0.75828
NM_001844.5(COL2A1):c.25A>T (p.Thr9Ser) rs3803183 0.75794
NM_002615.7(SERPINF1):c.440-39C>T rs4274474 0.75763
NM_004629.2(FANCG):c.511-45A>G rs554098 0.75732
NM_002449.5(MSX2):c.*1146T>C rs2890848 0.75720
NM_032888.4(COL27A1):c.2071-23C>T rs2567711 0.75692
NM_139057.4(ADAMTS17):c.1053G>A (p.Lys351=) rs4369638 0.75672
NM_145861.4(EDARADD):c.27G>A (p.Met9Ile) rs966365 0.75593
NM_013275.6(ANKRD11):c.88-87C>T rs2277908 0.75435
NM_152558.5(IQCE):c.395-10G>C rs2304540 0.75416
NM_005045.4(RELN):c.7181-34G>A rs362706 0.75362
NM_000404.4(GLB1):c.955+60A>G rs12632196 0.75289
NM_006412.4(AGPAT2):c.*442C>G rs6951 0.75286
NM_006364.4(SEC23A):c.1900-46A>T rs4902326 0.75282
NM_001083961.2(WDR62):c.4170A>C (p.Leu1390Phe) rs1008328 0.75234
NM_001378615.1(CC2D2A):c.1764+45T>G rs1558572 0.75139
NM_012293.3(PXDN):c.1567+67C>T rs12475392 0.75111
NM_000138.5(FBN1):c.*2158G>A rs11070641 0.75090
NM_001122955.4(BSCL2):c.766-49T>C rs2850597 0.75076
NM_001129.5(AEBP1):c.996A>G (p.Thr332=) rs2595701 0.75024
NM_002203.4(ITGA2):c.*3026A>G rs7719848 0.75000
NM_004168.4(SDHA):c.891T>C (p.Pro297=) rs1126417 0.74998
NM_016004.5(IFT52):c.159G>A (p.Val53=) rs2664519 0.74971
NM_013275.6(ANKRD11):c.88-75C>T rs3114912 0.74950
NM_004415.4(DSP):c.3084+24T>G rs2806229 0.74918
NM_001358921.2(COQ2):c.744T>C (p.Asp248=) rs6535454 0.74903
NM_000263.4(NAGLU):c.531+50G>C rs2071046 0.74899
NM_018136.5(ASPM):c.441+14C>T rs1571964 0.74895
NM_018136.5(ASPM):c.849C>T (p.Ser283=) rs6677082 0.74886
NM_001291303.3(FAT4):c.2944T>C (p.Leu982=) rs2940779 0.74871
NM_018136.5(ASPM):c.9636+52T>C rs4915316 0.74861
NM_001122955.4(BSCL2):c.765+69A>G rs2850596 0.74808
NM_001291303.3(FAT4):c.14604A>G (p.Arg4868=) rs1014866 0.74715
NM_058179.4(PSAT1):c.741-18T>A rs3780194 0.74689
NM_030662.4(MAP2K2):c.919+12A>G rs350911 0.74641
NM_004415.4(DSP):c.2631G>A (p.Arg877=) rs1016835 0.74603
NM_002203.4(ITGA2):c.*894C>T rs1109526 0.74563
NM_000421.5(KRT10):c.1459C>T (p.His487Tyr) rs17855579 0.74556
NM_052867.4(NALCN):c.3570T>C (p.Leu1190=) rs686141 0.74451
NM_001378964.1(CDON):c.3662T>A (p.Ile1221Asn) rs684535 0.74435
NM_000890.5(KCNJ5):c.938-10G>A rs4937391 0.74403
NM_000368.5(TSC1):c.*1275T>G rs2809244 0.74384
NM_001379081.2(FREM1):c.6341-23T>C rs10961690 0.74382
NM_001743.6(CALM2):c.421+96T>C rs2454085 0.74378
NM_020975.6(RET):c.1296A>G (p.Ala432=) rs1800860 0.74268
NM_021922.3(FANCE):c.249-35A>G rs7757405 0.74257
NM_032043.3(BRIP1):c.2637A>G (p.Glu879=) rs4986765 0.74166
NM_000890.5(KCNJ5):c.*804G>T rs2604204 0.74160
NM_002617.4(PEX10):c.291A>G (p.Thr97=) rs2494598 0.74152
NM_000479.5(AMH):c.146G>T (p.Ser49Ile) rs10407022 0.74147
NM_001379081.2(FREM1):c.6428A>C (p.Gln2143Pro) rs10961689 0.74114
NM_022336.4(EDAR):c.*1129A>G rs13001699 0.74105
NM_016213.5(TRIP4):c.1044-25G>A rs2046356 0.74036
NM_001276345.2(TNNT2):c.601-32A>C rs1104859 0.73965
NM_032620.4(GTPBP3):c.749T>C (p.Val250Ala) rs3810206 0.73925
NM_001083614.2(EARS2):c.1352+25G>A rs2072062 0.73904
NM_001291303.3(FAT4):c.4305C>T (p.Ile1435=) rs2710555 0.73896
NM_001368809.2(AMPD2):c.860+19A>G rs524998 0.73896
NM_032620.4(GTPBP3):c.198A>C (p.Thr66=) rs1864112 0.73888
NM_207361.6(FREM2):c.*5491G>A rs2226913 0.73809
NM_015937.6(PIGT):c.1400+48T>C rs2741566 0.73775
NM_152564.5(VPS13B):c.1206+33T>G rs7460625 0.73774
NM_017827.4(SARS2):c.-12T>C rs730078 0.73727
NM_004004.6(GJB2):c.*84T>C rs3751385 0.73662
NM_001077653.2(TBX20):c.39T>C (p.Ser13=) rs336283 0.73657
NM_207361.6(FREM2):c.*4465C>T rs2027770 0.73599
NM_004553.6(NDUFS6):c.309+208T>C rs4147773 0.73596
NM_002734.5(PRKAR1A):c.770-24G>A rs2302230 0.73571
NM_080680.3(COL11A2):c.3313-11C>T rs2855437 0.73560
NM_001271938.2(MEGF8):c.1933+27A>G rs874002 0.73512
NM_017799.4(TMEM260):c.1694G>A (p.Ser565Asn) rs1041316 0.73430
NM_207361.6(FREM2):c.6977C>T (p.Thr2326Ile) rs9548509 0.73365
NM_001163809.2(WDR81):c.4971A>G (p.Leu1657=) rs3809872 0.73341
NM_001134831.2(AHI1):c.10+115C>A rs9402709 0.73311
NM_017827.4(SARS2):c.1160+4T>C rs7508411 0.73282
NM_173660.5(DOK7):c.533-29A>G rs2006791 0.73240
NM_006757.4(TNNT3):c.18-76A>G rs965912 0.73230
NM_004560.4(ROR2):c.*16G>A rs2230578 0.73170
NM_001173990.3(TMEM216):c.*558G>A rs7607 0.73129
NM_003850.3(SUCLA2):c.371+9C>T rs6561424 0.73019
NM_013386.5(SLC25A24):c.398+45T>C rs490680 0.72989
NM_000925.4(PDHB):c.701-64G>T rs2070662 0.72970
NM_001025389.2(AMPD3):c.-103T>C rs899011 0.72968
NM_018124.4(RFWD3):c.269C>A (p.Thr90Asn) rs8058922 0.72932
NM_001379081.2(FREM1):c.829-12A>G rs2818940 0.72914
NM_152419.3(HGSNAT):c.371+82C>T rs10958738 0.72852
NM_006918.5(SC5D):c.*81A>C rs1061332 0.72847
NM_000925.4(PDHB):c.*296C>G rs7231 0.72833
NM_017827.4(SARS2):c.963-40G>C rs4803034 0.72763
NM_017565.4(FAM20A):c.1589T>C (p.Leu530Ser) rs2907373 0.72701
NM_014244.5(ADAMTS2):c.*1468A>G rs2059776 0.72686
NM_004370.6(COL12A1):c.9172G>A (p.Gly3058Ser) rs970547 0.72620
NM_016653.3(MAP3K20):c.1360-28A>G rs820008 0.72578
NM_001083614.2(EARS2):c.264G>A (p.Ala88=) rs7187920 0.72546
NM_144966.5(FREM1):c.*1700T>C rs1494343 0.72520
NM_001083614.2(EARS2):c.1068-5C>T rs2072061 0.72406
NM_022336.4(EDAR):c.1056C>T (p.Cys352=) rs12623957 0.72397
NM_004214.5(FIBP):c.1004+33T>C rs658938 0.72326
NM_005002.5(NDUFA9):c.552+11A>C rs7972657 0.72251
NM_016580.4(PCDH12):c.192T>C (p.Ala64=) rs164077 0.72217
NM_002296.4(LBR):c.461G>A (p.Ser154Asn) rs2230419 0.72194
NM_213599.3(ANO5):c.*3178C>G rs6483841 0.72187
NM_007078.3(LDB3):c.-24+8T>C rs2803558 0.72185
NM_153717.3(EVC):c.2305-8T>C rs1031919 0.72106
NM_153717.3(EVC):c.772T>C (p.Tyr258His) rs6414624 0.72068
NM_000525.4(KCNJ11):c.67A>G (p.Lys23Glu) rs5219 0.72048
NM_000280.4(PAX6):c.*1184A>T rs1506 0.72043
NM_006270.5(RRAS):c.344+13G>A rs1368464 0.71978
NM_006270.5(RRAS):c.333C>T (p.Asn111=) rs1865077 0.71974
NM_000352.6(ABCC8):c.4105G>T (p.Ala1369Ser) rs757110 0.71935
NM_001375405.1(CEP120):c.2826T>C (p.Asp942=) rs1047438 0.71935
NM_000020.3(ACVRL1):c.*1246T>C rs706819 0.71921
NM_153717.3(EVC):c.2894+18A>G rs2279250 0.71871
NM_014141.6(CNTNAP2):c.*279C>A rs987456 0.71838
NM_138295.5(PKD1L1):c.1229-16A>G rs1474283 0.71820
NM_032861.4(SERAC1):c.249C>T (p.Asp83=) rs6929274 0.71772
NM_032861.4(SERAC1):c.129-34C>G rs6929520 0.71770
NM_003850.3(SUCLA2):c.90+24G>A rs9567972 0.71769
NM_001042475.3(CEP85L):c.751C>A (p.Pro251Thr) rs3734382 0.71727
NM_018475.5(TMEM165):c.18A>G (p.Pro6=) rs1128141 0.71708
NM_001143979.2(NDE1):c.-94C>T rs11646913 0.71668
NM_015425.6(POLR1A):c.77+14C>T rs4832245 0.71646
NM_017547.4(FOXRED1):c.-2T>C rs1786702 0.71634
NM_004560.4(ROR2):c.2455G>A (p.Val819Ile) rs10761129 0.71630
NM_002296.4(LBR):c.117G>A (p.Val39=) rs1056607 0.71598
NM_153490.3(KRT13):c.560C>T (p.Ala187Val) rs9891361 0.71565
NM_012293.3(PXDN):c.1836T>C (p.Asn612=) rs17841813 0.71557
NM_138295.5(PKD1L1):c.6180T>C (p.Pro2060=) rs921634 0.71557
NM_000352.6(ABCC8):c.4608+54G>C rs4148646 0.71546
NM_000135.4(FANCA):c.710-12A>G rs1800286 0.71452
NM_001369268.1(ACAN):c.6235A>G (p.Ile2079Val) rs1042630 0.71405
NM_018249.6(CDK5RAP2):c.5579-34G>C rs2297457 0.71354
NM_000525.4(KCNJ11):c.1009G>A (p.Val337Ile) rs5215 0.71351
NM_004836.7(EIF2AK3):c.497A>G (p.Gln166Arg) rs13045 0.71334
NM_002734.5(PRKAR1A):c.892-34G>T rs2302231 0.71288
NM_000214.3(JAG1):c.3417T>C (p.Tyr1139=) rs1051419 0.71278
NM_004370.6(COL12A1):c.5525-132A>G rs1332778 0.71264
NM_030578.4(B9D2):c.-5+107G>A rs2241712 0.71256
NM_030578.4(B9D2):c.33A>G (p.Ile11Met) rs2241714 0.71244
NM_000090.4(COL3A1):c.2337+23T>A rs2271682 0.71236
NM_022336.4(EDAR):c.1024+44C>T rs260639 0.71201
NM_024678.6(NARS2):c.414T>C (p.Tyr138=) rs10751296 0.71183
NM_012463.4(ATP6V0A2):c.1515T>C (p.Asn505=) rs7135542 0.71178
NM_015295.3(SMCHD1):c.2122G>A (p.Val708Ile) rs2276092 0.71166
NM_000685.5(AGTR1):c.*798G>A rs380400 0.71156
NC_000008.11:g.124557903G>A rs4870903 0.71134
NM_014264.5(PLK4):c.694T>A (p.Ser232Thr) rs3811740 0.71105
NM_000093.5(COL5A1):c.4955-28T>C rs7868111 0.71059
NM_000348.4(SRD5A2):c.265C>G (p.Leu89Val) rs523349 0.71022
NM_018249.6(CDK5RAP2):c.4618G>C (p.Val1540Leu) rs4837768 0.70962
NM_005159.4(ACTC1):c.*1039G>A rs589759 0.70946
NM_022336.4(EDAR):c.*1598T>C rs10865025 0.70934
NM_015450.3(POT1):c.1006+16A>G rs7794637 0.70871
NM_022370.4(ROBO3):c.2991G>A (p.Ala997=) rs7933204 0.70857
NM_017841.4(SDHAF2):c.261-42G>A rs879647 0.70822
NM_001378183.1(PIEZO2):c.7952+33C>T rs487037 0.70798
NM_020639.3(RIPK4):c.937-45T>G rs2277790 0.70798
NM_003640.5(ELP1):c.1361-23A>G rs838824 0.70718
NM_000280.4(PAX6):c.*3958G>A rs3026401 0.70691
NM_000719.7(CACNA1C):c.5445-586C>T rs10848683 0.70684
NM_002076.4(GNS):c.198G>A (p.Pro66=) rs1147096 0.70681
NM_138927.4(SON):c.4723C>T (p.Arg1575Cys) rs13047599 0.70679
NM_033026.6(PCLO):c.2441G>C (p.Ser814Thr) rs2877 0.70660
NM_001011658.4(TRAPPC2):c.*1739C>G rs7716 0.70553
NM_139057.4(ADAMTS17):c.3281A>G (p.Asn1094Ser) rs2573652 0.70543
NM_025136.4(OPA3):c.231T>C (p.Ala77=) rs3826860 0.70508
NM_012463.4(ATP6V0A2):c.*1693C>G rs10846553 0.70431
NM_005529.7(HSPG2):c.4508C>T (p.Ala1503Val) rs897471 0.70428
NM_001368809.2(AMPD2):c.1272T>C (p.His424=) rs863978 0.70414
NM_000719.7(CACNA1C):c.3945+83T>C rs2239127 0.70394
NM_004544.4(NDUFA10):c.105A>G (p.Lys35=) rs2083411 0.70392
NM_004360.5(CDH1):c.2076T>C (p.Ala692=) rs1801552 0.70379
NM_000719.7(CACNA1C):c.4828+164T>C rs2302729 0.70353
NM_000719.7(CACNA1C):c.3945+96T>C rs2239128 0.70345
NM_001127671.2(LIFR):c.*362G>A rs1005017 0.70336
NM_001143985.1(BANF1):c.-192G>C rs1786171 0.70323
NM_001145860.2(POP1):c.2057+21A>G rs4735530 0.70291
NM_000238.4(KCNH2):c.1956T>C (p.Tyr652=) rs1137617 0.70278
NM_022725.4(FANCF):c.*207C>T rs4447177 0.70234
NM_000088.4(COL1A1):c.1984-41G>A rs2586490 0.70223
NM_017799.4(TMEM260):c.1778+12A>G rs913742 0.70210
NM_006623.4(PHGDH):c.1209+149A>T rs627070 0.70206
NM_025136.4(OPA3):c.*1950G>A rs4404183 0.69999
NM_004064.5(CDKN1B):c.-79T>C rs34330 0.69820
NM_006623.4(PHGDH):c.1326G>A (p.Thr442=) rs543703 0.69798
NM_018062.4(FANCL):c.981T>C (p.Ser327=) rs848291 0.69782
NM_025136.4(OPA3):c.*3387G>A rs3760844 0.69742
NM_002470.4(MYH3):c.3574G>A (p.Ala1192Thr) rs2285477 0.69723
NM_025136.4(OPA3):c.*4318T>C rs4802261 0.69665
NM_020159.5(SMARCAD1):c.902T>C (p.Val301Ala) rs7439869 0.69652
NM_024596.5(MCPH1):c.228G>T (p.Val76=) rs2305022 0.69651
NM_015425.6(POLR1A):c.678G>A (p.Thr226=) rs2288120 0.69550
NM_015311.3(OBSL1):c.4095G>C (p.Glu1365Asp) rs1983210 0.69535
NC_000019.10:g.41354391A>G rs1800469 0.69508
NM_021926.4(ALX4):c.*2682C>T rs897005 0.69471
NM_001276345.2(TNNT2):c.348C>T (p.Ile116=) rs3729547 0.69444
NM_133259.4(LRPPRC):c.246G>A (p.Gln82=) rs6741066 0.69341
NM_001164508.2(NEB):c.3081A>T (p.Lys1027Asn) rs6735208 0.69255
NM_015294.6(TRIM37):c.2386+40A>G rs4932691 0.69195
NM_000219.6(KCNE1):c.*2529C>T rs2834485 0.69189
NM_022552.5(DNMT3A):c.1122+7G>A rs2276599 0.69165
NM_001999.4(FBN2):c.7200T>C (p.Ser2400=) rs190450 0.69111
NM_001378615.1(CC2D2A):c.3183-8T>C rs13121363 0.69106
NM_003098.3(SNTA1):c.909+30T>C rs291694 0.69088
NM_000435.3(NOTCH3):c.6668C>T (p.Ala2223Val) rs1044009 0.69087
NM_030632.3(ASXL3):c.976+78T>C rs10432168 0.69077
NM_002936.6(RNASEH1):c.409+34C>A rs7563960 0.69067
NM_002615.7(SERPINF1):c.215C>T (p.Thr72Met) rs1136287 0.69033
NM_139057.4(ADAMTS17):c.*510C>T rs2573650 0.69021
NM_001378615.1(CC2D2A):c.3595-55C>G rs4280723 0.69017
NM_015139.3(SLC35D1):c.636+45C>A rs1024229 0.68971
NM_015139.3(SLC35D1):c.636+28T>G rs1024230 0.68966
NG_008365.2(SRD5A2):g.87047G>C rs632148 0.68927
NM_006941.4(SOX10):c.927T>C (p.His309=) rs139884 0.68861
NM_002076.4(GNS):c.793-68G>C rs1690277 0.68800
NM_001166114.2(PNPLA6):c.1362+8T>C rs620744 0.68799
NM_032043.3(BRIP1):c.*3514T>G rs10744996 0.68796
NM_000890.5(KCNJ5):c.*1063G>A rs2846696 0.68788
NM_001999.4(FBN2):c.5675-9C>T rs27713 0.68788
NM_001365276.2(TNXB):c.7553G>A (p.Gly2518Glu) rs1009382 0.68787
NM_175614.4(NDUFA11):c.-217A>G rs1056987 0.68730
NM_004560.4(ROR2):c.494+25G>A rs12683181 0.68697
NM_015412.4(NEPRO):c.106+71G>A rs2293560 0.68630
NM_004415.4(DSP):c.8472G>C (p.Gly2824=) rs2744380 0.68624
NM_006031.6(PCNT):c.2610-5C>T rs2839226 0.68609
NM_000719.7(CACNA1C):c.3945+109C>T rs2239129 0.68534
NM_001083961.2(WDR62):c.2549T>C (p.Leu850Ser) rs2285745 0.68524
NM_001378452.1(ITPR1):c.5169T>C (p.Thr1723=) rs7613447 0.68442
NM_001378615.1(CC2D2A):c.3288+41A>C rs13116304 0.68417
NM_022168.4(IFIH1):c.2528A>G (p.His843Arg) rs3747517 0.68382
NM_002296.4(LBR):c.261T>C (p.Pro87=) rs1056608 0.68333
NM_139057.4(ADAMTS17):c.1017C>T (p.Ala339=) rs4965613 0.68304
NM_016169.4(SUFU):c.1365+19T>C rs12414407 0.68248
NM_001085372.3(UQCC3):c.265G>A (p.Gly89Ser) rs13941 0.68239
NM_153490.3(KRT13):c.*171G>T rs903 0.68196
NM_012082.4(ZFPM2):c.302-13C>T rs3735953 0.68152
NM_000138.5(FBN1):c.*1575T>G rs4775760 0.68134
NM_139057.4(ADAMTS17):c.1031+81A>G rs4965295 0.68113
NM_000348.4(SRD5A2):c.281+15T>C rs522638 0.68085
NM_000368.5(TSC1):c.*3679G>A rs1050700 0.68068
NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=) rs2306875 0.68068
NM_001999.4(FBN2):c.2893G>A (p.Val965Ile) rs154001 0.68054
NM_005559.4(LAMA1):c.6004A>G (p.Lys2002Glu) rs607230 0.68054
NM_005269.3(GLI1):c.3298G>C (p.Glu1100Gln) rs2228226 0.68037
NM_003632.3(CNTNAP1):c.364-34A>G rs9889373 0.68019
NM_003070.5(SMARCA2):c.4360-79A>G rs2281786 0.68018
NM_001164508.2(NEB):c.771T>C (p.Ala257=) rs4611637 0.68008
NM_005219.5(DIAPH1):c.1461+20G>A rs2302103 0.67950
NM_194318.4(B3GLCT):c.*1801A>G rs912604 0.67908
NM_138959.3(VANGL1):c.*505A>G rs6700610 0.67885
NM_006796.3(AFG3L2):c.1389G>A (p.Leu463=) rs11080572 0.67857
NM_001083961.2(WDR62):c.3929A>T (p.Gln1310Leu) rs2074435 0.67813
NM_194318.4(B3GLCT):c.*1836G>A rs912603 0.67779
NM_139057.4(ADAMTS17):c.873+58T>C rs4965297 0.67726
NM_013275.6(ANKRD11):c.745-84C>T rs2353028 0.67687
NM_001366722.1(GRIP1):c.724+10G>A rs12316942 0.67684
NM_006412.4(AGPAT2):c.661+121T>C rs9411215 0.67675
NM_006796.3(AFG3L2):c.752+6C>T rs8097342 0.67671
NM_004456.5(EZH2):c.1852-21T>C rs2072407 0.67669
NM_014918.5(CHSY1):c.2322C>A (p.Thr774=) rs8024370 0.67566
NM_014704.4(CEP104):c.2151+43A>G rs2275832 0.67501
NM_006031.6(PCNT):c.8375A>G (p.Gln2792Arg) rs2073376 0.67500
NM_006031.6(PCNT):c.7914-16C>T rs2839257 0.67468
NM_213599.3(ANO5):c.138+169G>A rs4922980 0.67443
NM_000208.4(INSR):c.*2779G>A rs3745551 0.67433
NM_001145358.2(SIN3A):c.3592-21T>A rs7403118 0.67414
NM_025074.7(FRAS1):c.6468C>T (p.His2156=) rs753752 0.67410
NM_020745.4(AARS2):c.2607G>A (p.Lys869=) rs498512 0.67400
NM_015971.4(MRPS7):c.5C>T (p.Ala2Val) rs8075276 0.67348
NC_000008.11:g.124567749C>T rs6470252 0.67255
NM_000428.3(LTBP2):c.2502T>C (p.Thr834=) rs862031 0.67247
NM_000104.4(CYP1B1):c.*350C>A rs162562 0.67224
NM_006031.6(PCNT):c.720+17T>C rs9982233 0.67221
NM_021926.4(ALX4):c.*517C>T rs4755797 0.67187
NM_153717.3(EVC):c.939+10A>G rs2286342 0.67122
NM_145068.3(TRPV3):c.-269A>G rs322958 0.67103
NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile) rs11559290 0.67086
NM_016580.4(PCDH12):c.2176T>C (p.Leu726=) rs164073 0.67076
NM_024596.5(MCPH1):c.940G>C (p.Asp314His) rs930557 0.67053
NM_014704.4(CEP104):c.2662+62A>G rs6703035 0.67052
NM_015425.6(POLR1A):c.4224G>A (p.Gly1408=) rs2276626 0.67028
NM_000199.5(SGSH):c.*848C>G rs709677 0.67025
NM_174889.4(NDUFAF2):c.-97A>G rs158922 0.66969
NM_000199.5(SGSH):c.*840A>G rs709678 0.66962
NM_182760.4(SUMF1):c.841-75C>T rs813811 0.66935
NM_000316.3(PTH1R):c.1389T>C (p.Asn463=) rs1138518 0.66915
NM_004273.5(CHST3):c.*3932G>T rs1871451 0.66877
NM_194318.4(B3GLCT):c.*2486T>C rs4057 0.66872
NM_004273.5(CHST3):c.*763C>A rs4148941 0.66871
NM_194318.4(B3GLCT):c.*2336A>C rs13080 0.66864
NM_004426.3(PHC1):c.93T>A (p.Leu31=) rs4883198 0.66806
NM_000553.6(WRN):c.513C>T (p.Cys171=) rs1800389 0.66802
NM_017617.5(NOTCH1):c.3325+21A>G rs3124597 0.66794
NM_080680.3(COL11A2):c.4339-49G>T rs2855453 0.66736
NM_000226.4(KRT9):c.195C>T (p.Gly65=) rs8070680 0.66728
NM_017617.5(NOTCH1):c.2970-31A>G rs3124598 0.66710
NM_013275.6(ANKRD11):c.2912C>T (p.Ala971Val) rs2279348 0.66687
NM_000719.7(CACNA1C):c.3946-98G>A rs216045 0.66649
NM_031307.4(PUS3):c.136G>T (p.Ala46Ser) rs549990 0.66649
NM_005029.4(PITX3):c.285C>T (p.Ile95=) rs2281983 0.66644
NM_000093.5(COL5A1):c.*1125A>T rs1134170 0.66610
NM_030632.3(ASXL3):c.716-49G>A rs8086318 0.66596
NM_000108.5(DLD):c.*487C>T rs4518 0.66588
NM_001374353.1(GLI2):c.3865G>A (p.Asp1289Asn) rs12711538 0.66550
NM_005921.2(MAP3K1):c.483-11C>A rs832567 0.66503
NM_004826.4(ECEL1):c.787-23G>C rs2573246 0.66473
NM_012463.4(ATP6V0A2):c.294+103T>C rs7301641 0.66467
NM_004560.4(ROR2):c.733A>G (p.Thr245Ala) rs10820900 0.66416
NM_014243.3(ADAMTS3):c.413G>A (p.Arg138Lys) rs788908 0.66379
NM_001164508.2(NEB):c.18305G>C (p.Arg6102Thr) rs2288210 0.66332
NM_001164508.2(NEB):c.4471G>A (p.Val1491Met) rs7426114 0.66326
NM_182760.4(SUMF1):c.1116T>C (p.Thr372=) rs2633852 0.66322
NM_012463.4(ATP6V0A2):c.426T>C (p.Asn142=) rs1139789 0.66312
NM_014762.4(DHCR24):c.1026T>C (p.Ile342=) rs718265 0.66290
NM_020442.6(VARS2):c.3033C>T (p.Asp1011=) rs1043483 0.66272
NM_030578.4(B9D2):c.214+25T>G rs11668109 0.66244
NM_002860.4(ALDH18A1):c.304-34A>G rs2275273 0.66239
NM_000528.4(MAN2B1):c.2267+63A>G rs3815914 0.66212
NM_000108.5(DLD):c.*978T>C rs2158835 0.66205
NM_000108.5(DLD):c.*1451T>C rs2108223 0.66202
NM_000108.5(DLD):c.439-7T>C rs10263341 0.66181
NM_194318.4(B3GLCT):c.*2137T>C rs2056443 0.66166
NM_194318.4(B3GLCT):c.1108G>A (p.Glu370Lys) rs1041073 0.66142
NM_000203.5(IDUA):c.299+3990A>G rs3822020 0.66105
NM_194318.4(B3GLCT):c.*2067A>G rs2056445 0.66105
NM_003051.4(SLC16A1):c.1470T>A (p.Asp490Glu) rs1049434 0.66103
NM_003051.4(SLC16A1):c.*1414C>T rs7169 0.66095
NM_000088.4(COL1A1):c.3261+31T>C rs2586488 0.66062
NM_001122681.2(SH3BP2):c.*5679T>C rs4690002 0.66062
NM_012463.4(ATP6V0A2):c.471T>C (p.Ser157=) rs1399961 0.66054
NM_080632.3(UPF3B):c.264-34G>A rs2428212 0.66050
NM_012463.4(ATP6V0A2):c.649-114T>G rs10744159 0.66049
NM_000108.5(DLD):c.199-108T>C rs10250718 0.66040
NM_002618.4(PEX13):c.*2147A>G rs2564097 0.66023
NM_025136.4(OPA3):c.*152G>A rs3826861 0.66011
NM_002495.4(NDUFS4):c.12G>C (p.Val4=) rs2279516 0.65985
NM_012463.4(ATP6V0A2):c.432+14C>T rs11837144 0.65907
NM_000108.5(DLD):c.*207G>A rs4564 0.65906
NM_130837.3(OPA1):c.*1343A>G rs1056366 0.65902
NM_015294.6(TRIM37):c.-340T>G rs7503190 0.65862
NM_000218.3(KCNQ1):c.1685+36A>G rs163150 0.65861
NM_004793.4(LONP1):c.1896+15T>C rs4073993 0.65853
NM_001042492.3(NF1):c.*2829T>C rs1048317 0.65846
NM_001080414.4(CCDC88C):c.4630+78G>T rs2277509 0.65846
NM_018249.6(CDK5RAP2):c.5578+29C>G rs4410972 0.65760
NM_020751.3(COG6):c.297+47C>T rs7330016 0.65748
NM_020297.4(ABCC9):c.1660-66G>A rs704217 0.65694
NM_000308.4(CTSA):c.693-33A>G rs4810476 0.65662
NM_000308.4(CTSA):c.1088+10C>T rs4608591 0.65654
NM_001104631.2(PDE4D):c.*2934G>A rs702530 0.65587
NM_001104631.2(PDE4D):c.*4001C>G rs829258 0.65535
NM_000308.4(CTSA):c.948+7G>A rs2075961 0.65493
NM_000027.4(AGA):c.941-84C>G rs3805167 0.65485
NM_001330677.2(TBX15):c.694-49T>C rs4659129 0.65459
NM_020754.4(ARHGAP31):c.1926+5A>G rs1463139 0.65459
NM_213599.3(ANO5):c.*1286G>T rs7925081 0.65457
NM_003118.4(SPARC):c.208+31C>T rs1978707 0.65432
NM_020812.4(DOCK6):c.3876A>G (p.Leu1292=) rs4804151 0.65403
NM_052859.4(RFT1):c.*2887G>A rs2099162 0.65392
NM_005557.4(KRT16):c.624T>C (p.His208=) rs4796681 0.65349
NM_139057.4(ADAMTS17):c.*46C>G rs2581340 0.65342
NM_000093.5(COL5A1):c.4608+31T>C rs9697186 0.65324
NM_001042492.3(NF1):c.5268+23T>C rs9894648 0.65316
NM_000719.7(CACNA1C):c.1508+205A>G rs2370596 0.65274
NM_000093.5(COL5A1):c.2701-22C>T rs4072883 0.65253
NM_004239.4(TRIP11):c.*1060C>T rs10142576 0.65231
NM_007255.3(B4GALT7):c.219T>C (p.Arg73=) rs11537644 0.65175
NM_153704.6(TMEM67):c.1066-3C>T rs3097427 0.65135
NM_014317.5(PDSS1):c.130-46T>C rs1780186 0.65133
NM_001080517.3(SETD5):c.2347-38A>G rs2648580 0.65124
NM_001011658.4(TRAPPC2):c.*830G>C rs1964206 0.65101
NM_014704.4(CEP104):c.2663-91G>A rs4233019 0.65061
NM_014704.4(CEP104):c.2663-22A>G rs4648409 0.65055
NM_001164508.2(NEB):c.24580-81A>G rs4664455 0.65048
NM_004273.5(CHST3):c.*2422T>C rs4148949 0.65038
NM_004273.5(CHST3):c.*4432T>A rs1871452 0.65004
NM_003640.5(ELP1):c.2205-121C>T rs4978760 0.64996
NM_001044385.3(TMEM237):c.274+23A>G rs1208081 0.64988
NM_000262.3(NAGA):c.279G>A (p.Pro93=) rs133369 0.64950
NM_175614.4(NDUFA11):c.-88C>A rs8108064 0.64945
NM_001164508.2(NEB):c.24766-18C>T rs2288195 0.64910
NM_153704.6(TMEM67):c.1810A>G (p.Ile604Val) rs3134031 0.64845
NM_152269.5(MTRFR):c.*515T>G rs1533703 0.64844
NM_001203.3(BMPR1B):c.*1559A>G rs2289044 0.64829
NM_182961.4(SYNE1):c.10191C>A (p.Gly3397=) rs4407724 0.64816
NM_002291.3(LAMB1):c.5225-7C>T rs3213673 0.64814
NM_001203.3(BMPR1B):c.*196A>G rs1836261 0.64776
NM_003477.3(PDHX):c.*486G>T rs9326 0.64744
NM_145054.5(CFAP52):c.1006G>A (p.Glu336Lys) rs6503235 0.64676
NM_002857.4(PEX19):c.594+37T>C rs2795067 0.64655
NM_001018005.2(TPM1):c.453C>A (p.Ala151=) rs1071646 0.64628
NM_000126.4(ETFA):c.817-3173C>G rs2456057 0.64613
NM_207346.3(TSEN54):c.285+32C>A rs7218675 0.64612
NM_004370.6(COL12A1):c.7086+44C>G rs499018 0.64589
NM_080680.3(COL11A2):c.3853-39G>A rs2855448 0.64558
NM_020297.4(ABCC9):c.406+38A>C rs2277405 0.64547
NM_000093.5(COL5A1):c.1332+92C>G rs3124310 0.64521
NM_000168.6(GLI3):c.547A>G (p.Thr183Ala) rs846266 0.64495
NM_014804.3(KIAA0753):c.*21A>G rs3744720 0.64487
NM_014804.3(KIAA0753):c.2687A>G (p.Gln896Arg) rs1443417 0.64459
NM_014804.3(KIAA0753):c.1397T>C (p.Leu466Pro) rs2289642 0.64436
NM_182961.4(SYNE1):c.19471-18C>T rs6557210 0.64435
NM_015909.4(NBAS):c.514-11C>T rs10208972 0.64424
NM_015909.4(NBAS):c.287+20_287+21insT rs34789730 0.64408
NM_025074.7(FRAS1):c.*2489T>C rs11098227 0.64399
NM_001378183.1(PIEZO2):c.4514+32C>T rs8093389 0.64387
NM_001854.4(COL11A1):c.4512T>C (p.Gly1504=) rs1763347 0.64340
NM_139057.4(ADAMTS17):c.*113A>G rs2581341 0.64262
NM_006492.3(ALX3):c.277+33C>T rs2274568 0.64214
NM_000540.3(RYR1):c.1668G>A (p.Ser556=) rs2288888 0.64200
NM_001378964.1(CDON):c.223G>A (p.Val75Ile) rs3740912 0.64193
NM_001164508.2(NEB):c.24433G>C (p.Ala8145Pro) rs7575451 0.64120
NM_138959.3(VANGL1):c.813-45C>A rs10754330 0.64088
NM_139057.4(ADAMTS17):c.*316T>C rs2581345 0.64086
NM_139057.4(ADAMTS17):c.*1083A>G rs2581362 0.64072
NM_139057.4(ADAMTS17):c.*1078G>A rs2727196 0.64049
NM_139057.4(ADAMTS17):c.*399_*412dup rs71151926 0.64020
NM_016580.4(PCDH12):c.1153C>A (p.His385Asn) rs164075 0.64019
NM_139057.4(ADAMTS17):c.*544G>A rs2581348 0.64018
NM_002334.4(LRP4):c.*561T>C rs3829940 0.64017
NM_139057.4(ADAMTS17):c.*1289T>G rs2581365 0.63990
NM_000435.3(NOTCH3):c.3461-32C>T rs56061231 0.63976
NM_020812.4(DOCK6):c.3858T>C (p.Asp1286=) rs4804152 0.63966
NM_001378183.1(PIEZO2):c.4290T>A (p.Leu1430=) rs8096037 0.63926
NM_144966.5(FREM1):c.*2320A>C rs2270527 0.63925
NM_025074.7(FRAS1):c.*2154C>T rs3811747 0.63908
NM_139057.4(ADAMTS17):c.*1243C>T rs2581363 0.63825
NM_207346.3(TSEN54):c.1310C>T (p.Ala437Val) rs8064529 0.63819
NM_001102401.4(TTI2):c.138T>C (p.Asn46=) rs3098657 0.63812
NM_133259.4(LRPPRC):c.*1665C>T rs1139250 0.63748
NM_052859.4(RFT1):c.*450C>T rs2564922 0.63746
NM_033419.5(PGAP3):c.900-10T>C rs2247862 0.63744
NM_015910.7(WDPCP):c.1915+13G>A rs992214 0.63738
NM_004273.5(CHST3):c.*1844C>T rs4148946 0.63737
NM_001371986.1(UNC80):c.9069G>A (p.Gln3023=) rs2075117 0.63732
NM_024339.5(THOC6):c.220+10C>G rs2245000 0.63695
NM_004715.5(CTDP1):c.181T>G (p.Ser61Ala) rs17855830 0.63679
NM_022356.4(P3H1):c.*257G>A rs6882 0.63640
NM_033026.6(PCLO):c.1893+47C>A rs6951239 0.63627
NM_032444.4(SLX4):c.4500T>C (p.Asn1500=) rs3810812 0.63612
NM_001127.4(AP1B1):c.204A>G (p.Leu68=) rs2072051 0.63578
NM_001164508.2(NEB):c.20158-42G>A rs2288201 0.63566
NM_001365276.2(TNXB):c.7440T>C (p.Tyr2480=) rs204887 0.63524
NM_033419.5(PGAP3):c.465T>C (p.Val155=) rs2941504 0.63491
NM_004958.4(MTOR):c.2997C>T (p.Asn999=) rs1064261 0.63488
NM_017617.5(NOTCH1):c.1556-43T>C rs4880099 0.63476
NM_005138.3(SCO2):c.633A>C (p.Ala211=) rs12148 0.63421
NM_000138.5(FBN1):c.*314C>T rs1042078 0.63415
NM_001203.3(BMPR1B):c.*989A>G rs11097457 0.63376
NM_000093.5(COL5A1):c.*2501T>C rs3128575 0.63348
NM_001018113.3(FANCB):c.-173G>C rs2188383 0.63320
NM_002470.4(MYH3):c.1581+13A>C rs2285468 0.63294
NM_004247.4(EFTUD2):c.1059-31T>C rs2120276 0.63264
NM_013432.5(TONSL):c.1290+35G>A rs2721188 0.63254
NM_002465.4(MYBPC1):c.2222-38T>C rs2254631 0.63203
NM_002470.4(MYH3):c.534-44T>C rs1989810 0.63169
NM_183381.3(RNF13):c.789C>T (p.His263=) rs6768054 0.63113
NM_001128159.3(VPS53):c.2328+15A>G rs2034088 0.63097
NM_001793.6(CDH3):c.720G>A (p.Thr240=) rs2296409 0.63066
NM_002076.4(GNS):c.*380C>T rs674 0.63058
NM_174889.5(NDUFAF2):c.60G>A (p.Lys20=) rs158921 0.63042
NM_004304.5(ALK):c.2535T>C (p.Gly845=) rs2256740 0.63034
NM_001793.6(CDH3):c.813C>A (p.Thr271=) rs2296408 0.62977
NM_017799.4(TMEM260):c.858-14A>G rs2275024 0.62928
NM_015909.4(NBAS):c.2223G>A (p.Leu741=) rs7590340 0.62925
NM_000540.3(RYR1):c.2286C>T (p.Pro762=) rs3745847 0.62871
NM_013275.6(ANKRD11):c.7470+72C>T rs3096305 0.62824
NM_018131.5(CEP55):c.1133A>T (p.His378Leu) rs2293277 0.62798
NM_020297.4(ABCC9):c.406+305A>T rs2176394 0.62792
NM_001080432.3(FTO):c.*1380del rs5816925 0.62759
NM_058179.4(PSAT1):c.297T>G (p.Ala99=) rs3739474 0.62693
NM_017617.5(NOTCH1):c.312T>C (p.Asn104=) rs4489420 0.62688
NM_000124.4(ERCC6):c.135C>G (p.Leu45=) rs2228524 0.62551
NM_022370.4(ROBO3):c.766+24T>C rs4936957 0.62538
NM_015909.4(NBAS):c.1386A>G (p.Arg462=) rs13014906 0.62509
NM_001358921.2(COQ2):c.46G>T (p.Val16Leu) rs6818847 0.62431
NM_001164508.2(NEB):c.1674+30T>G rs6433569 0.62430
NM_000414.4(HSD17B4):c.1767+57C>T rs2636961 0.62409
NM_017617.5(NOTCH1):c.5473-43T>C rs3124594 0.62391
NM_001039958.2(MESP2):c.*431C>T rs11073889 0.62378
NM_004247.4(EFTUD2):c.426+8G>A rs2289677 0.62345
NM_139057.4(ADAMTS17):c.*885A>G rs2727198 0.62345
NM_015114.3(ANKLE2):c.1421-138G>C rs7132253 0.62342
NM_001164508.2(NEB):c.9363T>C (p.Pro3121=) rs6709886 0.62301
NM_001080432.3(FTO):c.*2108G>A rs708277 0.62297
NM_016023.5(OTUD6B):c.316-11G>C rs11786324 0.62291
NM_001793.6(CDH3):c.1626T>C (p.Asn542=) rs2296405 0.62283
NM_015114.3(ANKLE2):c.1700+48A>G rs10747081 0.62271
NM_152269.5(MTRFR):c.*198T>C rs1969354 0.62265
NM_182961.4(SYNE1):c.25038T>C (p.Arg8346=) rs2256135 0.62211
NM_194318.4(B3GLCT):c.850+81G>A rs4065552 0.62176
NM_001374353.1(GLI2):c.2242+35A>G rs2276553 0.62175
NM_030632.3(ASXL3):c.356-83C>G rs9304126 0.62144
NM_000262.3(NAGA):c.*1929C>T rs5758566 0.62119
NM_032888.4(COL27A1):c.*31C>T rs1249756 0.62119
NM_032620.4(GTPBP3):c.974+38G>A rs4808623 0.62097
NM_016030.6(TRAPPC12):c.681T>C (p.Phe227=) rs10865541 0.62092
NM_000352.6(ABCC8):c.2820+17A>G rs2106865 0.62022
NM_001164508.2(NEB):c.21840+82A>G rs2288198 0.61992
NM_000093.5(COL5A1):c.4230+103T>C rs11792894 0.61932
NM_139057.4(ADAMTS17):c.*1449G>A rs2573625 0.61872
NM_014804.3(KIAA0753):c.1716T>C (p.Ala572=) rs4796519 0.61864
NM_004273.5(CHST3):c.-294C>G rs4148907 0.61843
NM_015114.3(ANKLE2):c.1594-93A>G rs10781637 0.61828
NM_174889.5(NDUFAF2):c.217+42A>G rs10471502 0.61728
NM_005055.5(RAPSN):c.456T>C (p.Tyr152=) rs7111873 0.61686
NM_000719.7(CACNA1C):c.4399-79C>A rs2302728 0.61634
NM_005055.5(RAPSN):c.1143T>C (p.Pro381=) rs7126210 0.61595
NM_000262.3(NAGA):c.-208G>C rs133375 0.61550
NM_006953.4(UPK3A):c.402C>T (p.Val134=) rs2673088 0.61535
NM_025074.7(FRAS1):c.*2700G>A rs11098228 0.61498
NM_016938.5(EFEMP2):c.-58G>A rs2303384 0.61477
NM_006623.3(PHGDH):c.-140A>G rs561931 0.61476
NM_001374353.1(GLI2):c.3888A>G (p.Pro1296=) rs10167980 0.61468
NM_133259.4(LRPPRC):c.2896+26C>T rs4952694 0.61459
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro) rs4986764 0.61453
NM_153717.3(EVC):c.*14G>A rs2291151 0.61437
NM_139057.4(ADAMTS17):c.*1490C>T rs2727195 0.61407
NM_005921.2(MAP3K1):c.2416G>A (p.Asp806Asn) rs702689 0.61396
NM_030632.3(ASXL3):c.2861A>G (p.Asn954Ser) rs2282632 0.61395
NM_006416.5(SLC35A1):c.*302A>G rs1051131 0.61356
NM_004525.3(LRP2):c.2025C>T (p.Val675=) rs830994 0.61350
NM_020320.5(RARS2):c.1512-43T>C rs9450723 0.61345
NM_000921.5(PDE3A):c.1760+38A>C rs7304499 0.61326
NM_006416.5(SLC35A1):c.*648T>G rs1051148 0.61316
NM_130837.3(OPA1):c.*283A>G rs1061648 0.61309
NM_001308093.3(GATA4):c.1000+56C>A rs804280 0.61291
NM_032043.3(BRIP1):c.*483C>T rs7213430 0.61289
NM_020297.4(ABCC9):c.1912-66G>A rs1356368 0.61280
NM_020320.5(RARS2):c.452-21A>G rs4707374 0.61261
NM_015909.4(NBAS):c.1148-9G>C rs1990755 0.61252
NM_014317.5(PDSS1):c.130-23del rs71403882 0.61230
NM_005559.4(LAMA1):c.2763T>C (p.Cys921=) rs539713 0.61217
NM_015909.4(NBAS):c.1242T>C (p.Ser414=) rs1990754 0.61213
NM_004426.3(PHC1):c.369C>T (p.Pro123=) rs1805741 0.61206
NM_015909.4(NBAS):c.1148-26G>A rs1990756 0.61206
NM_016111.4(TELO2):c.682+115C>T rs2235630 0.61186
NM_020297.4(ABCC9):c.1012-59T>C rs4148654 0.61169
NM_182760.4(SUMF1):c.*675A>C rs14275 0.61157
NM_020223.4(FAM20C):c.1254-63T>C rs36164325 0.61141
NM_000719.7(CACNA1C):c.50-162C>G rs2299661 0.61134
NM_018946.4(NANS):c.153T>C (p.Ala51=) rs13049 0.61083
NM_183065.4(TMEM107):c.256+46C>G rs8064449 0.61047
NM_001374353.1(GLI2):c.3415G>T (p.Ala1139Ser) rs3738880 0.61025
NM_001793.6(CDH3):c.1956G>A (p.Lys652=) rs2274239 0.61024
NM_001378778.1(MPDZ):c.4807+14A>G rs2297003 0.61011
NM_000183.2(HADHB):c.-201G>A rs3806516 0.60985
NM_000540.3(RYR1):c.594A>G (p.Leu198=) rs2229139 0.60966
NM_024312.5(GNPTAB):c.3135+5T>C rs759935 0.60955
NM_024312.5(GNPTAB):c.3434+112C>G rs3736475 0.60946
NM_003184.4(TAF2):c.2319A>G (p.Thr773=) rs1509348 0.60847
NM_182760.4(SUMF1):c.*61T>C rs2819561 0.60822
NM_024312.5(GNPTAB):c.365+145C>T rs2108694 0.60798
NM_153717.3(EVC):c.802-15C>T rs4689313 0.60798
NM_003184.4(TAF2):c.792+14T>C rs7813438 0.60785
NM_003184.4(TAF2):c.2112+14C>T rs13268676 0.60770
NM_001206641.3(COA6):c.47G>C (p.Ser16Thr) rs10910420 0.60769
NM_001374353.1(GLI2):c.*816G>C rs2278741 0.60767
NM_057174.2(PEX16):c.*434G>A rs2280329 0.60761
NM_182895.5(SCARF2):c.2498C>G (p.Ala833Gly) rs874101 0.60739
NM_032043.3(BRIP1):c.3411T>C (p.Tyr1137=) rs4986763 0.60694
NM_004525.3(LRP2):c.12628A>C (p.Ile4210Leu) rs4667591 0.60691
NM_021625.5(TRPV4):c.670A>C (p.Arg224=) rs3825394 0.60669
NM_001082486.2(ACD):c.1295T>C (p.Val432Ala) rs6979 0.60624
NM_015412.4(NEPRO):c.1069T>A (p.Phe357Ile) rs2306857 0.60602
NM_001001433.3(STX16):c.*1785A>G rs6128397 0.60588
NM_015295.3(SMCHD1):c.1851A>G (p.Thr617=) rs635132 0.60549
NM_001106.4(ACVR2B):c.*3090C>T rs11926767 0.60530
NM_003638.3(ITGA8):c.803-21G>C rs7100510 0.60341
NM_015909.4(NBAS):c.1147+11C>T rs1125534 0.60275
NM_207346.3(TSEN54):c.12G>T (p.Glu4Asp) rs7216673 0.60248
NM_000540.3(RYR1):c.2943G>A (p.Thr981=) rs2228069 0.60233
NM_000027.4(AGA):c.127+25C>T rs11131799 0.60222
NM_000501.4(ELN):c.1414+24C>T rs28763986 0.60222
NM_018359.5(UFSP2):c.-33C>T rs2289720 0.60217
NM_001367624.2(ZNF469):c.2130T>C (p.Pro710=) rs12918876 0.60216
NM_133259.4(LRPPRC):c.2806-110C>A rs4953039 0.60195
NM_000719.7(CACNA1C):c.1896-54G>A rs11832738 0.60150
NM_000660.7(TGFB1):c.29C>T (p.Pro10Leu) rs1800470 0.60129
NM_015450.3(POT1):c.702+9T>G rs6977407 0.60082
NM_015450.3(POT1):c.702+8A>T rs6959712 0.60081
NM_001106.4(ACVR2B):c.*4617C>G rs6599205 0.60080
NM_001106.4(ACVR2B):c.*911C>T rs6599204 0.60049
NM_002035.4(KDSR):c.261G>A (p.Val87=) rs2003149 0.60048
NM_001025389.1(AMPD3):c.-312A>G rs899013 0.60011
NM_006939.4(SOS2):c.2232C>T (p.Asn744=) rs2229869 0.60005
NM_015693.4(INTU):c.813G>A (p.Thr271=) rs4833380 0.59996
NM_001429.4(EP300):c.3183T>A (p.Thr1061=) rs20552 0.59984
NM_198525.3(KIF7):c.1788+13T>C rs1110060 0.59982
NM_004525.3(LRP2):c.13113C>T (p.Ile4371=) rs990626 0.59977
NM_000435.3(NOTCH3):c.4892-22G>T rs2074620 0.59905
NM_025152.3(NUBPL):c.*995T>C rs10136892 0.59892
NM_001206999.2(CIT):c.753+47A>G rs4767849 0.59872
NM_004565.3(PEX14):c.84+8231A>G rs10864459 0.59806
NM_020812.4(DOCK6):c.377+12T>A rs8113582 0.59788
NM_133459.4(CCBE1):c.775+12A>G rs1893788 0.59779
NM_004958.4(MTOR):c.1437T>C (p.Asp479=) rs1135172 0.59749
NM_002386.3(MC1R):c.-1063T>C rs3212357 0.59709
NM_203486.3(DLL3):c.653T>C (p.Leu218Pro) rs1110627 0.59676
NM_003477.3(PDHX):c.858T>C (p.Val286=) rs497582 0.59662
NM_000789.4(ACE):c.*910A>G rs1055086 0.59649
NM_006908.5(RAC1):c.107+27C>T rs702483 0.59625
NM_000719.7(CACNA1C):c.2103+297C>G rs2071641 0.59594
NM_001164508.2(NEB):c.22162-108C>T rs2288196 0.59579
NM_020297.4(ABCC9):c.574-5C>A rs3759236 0.59559
NM_004544.4(NDUFA10):c.*3450G>A rs7573892 0.59554
NM_001164508.2(NEB):c.22800+32C>T rs16830136 0.59551
NM_030632.3(ASXL3):c.5122A>G (p.Met1708Val) rs7232237 0.59545
NM_145068.4(TRPV3):c.270G>A (p.Gln90=) rs1039519 0.59507
NM_001189.4(NKX3-2):c.247C>A (p.Arg83=) rs9684692 0.59492
NM_000719.7(CACNA1C):c.1391-2222T>G rs10848674 0.59459
NM_018161.5(NADSYN1):c.220G>C (p.Val74Leu) rs2276360 0.59457
NM_002472.3(MYH8):c.3270C>T (p.Ile1090=) rs3744552 0.59381
NM_001378452.1(ITPR1):c.7689G>A (p.Lys2563=) rs901854 0.59379
NM_002386.3(MC1R):c.-928A>G rs3212358 0.59357
NM_016938.5(EFEMP2):c.490+23G>C rs630394 0.59356
NM_133259.4(LRPPRC):c.4128+37G>A rs2955280 0.59328
NM_182961.4(SYNE1):c.11734-5T>G rs9478320 0.59305
NM_005883.3(APC2):c.413+95T>C rs12985827 0.59265
NM_030578.4(B9D2):c.-4-40C>G rs2241713 0.59207
NM_030632.3(ASXL3):c.977-78A>G rs34501189 0.59143
NM_002386.3(MC1R):c.-1297T>C rs3212354 0.59089
NM_003477.2(PDHX):c.-88C>A rs2956110 0.59089
NM_001134831.2(AHI1):c.3426+13G>A rs6914831 0.59084
NM_022370.4(ROBO3):c.1331-49C>T rs4606490 0.59078
NM_001360.3(DHCR7):c.189G>A (p.Gln63=) rs1044482 0.59041
NM_024537.3(CARS2):c.-48C>T rs3818496 0.59027
NM_001394062.1(MACF1):c.756G>A (p.Gln252=) rs2275188 0.59013
NM_001164508.2(NEB):c.20368-57G>A rs4664486 0.59006
NM_006412.4(AGPAT2):c.183-60G>C rs2236514 0.58981
NM_139057.4(ADAMTS17):c.*190G>A rs2727199 0.58955
NM_001098511.3(KIF2A):c.1027+21A>T rs247266 0.58913
NM_002449.5(MSX2):c.380-164G>A rs4867776 0.58905
NM_018124.4(RFWD3):c.1212G>A (p.Thr404=) rs4888262 0.58882
NM_006941.4(SOX10):c.*475G>A rs139883 0.58862
NM_003632.3(CNTNAP1):c.151A>C (p.Arg51=) rs2271029 0.58855
NM_007255.3(B4GALT7):c.777T>C (p.His259=) rs729459 0.58812
NM_002470.4(MYH3):c.5457+9dup rs397750512 0.58793
NM_139057.4(ADAMTS17):c.*900T>C rs2581359 0.58766
NM_024312.5(GNPTAB):c.1932A>G (p.Thr644=) rs10778148 0.58708
NM_003184.4(TAF2):c.1568+27G>A rs6469846 0.58652
NM_017617.5(NOTCH1):c.6555C>T (p.Asp2185=) rs2229974 0.58641
NM_002470.4(MYH3):c.2151C>A (p.Gly717=) rs876657 0.58590
NM_002181.4(IHH):c.753T>C (p.Pro251=) rs3731881 0.58582
NM_194318.4(B3GLCT):c.*2082G>T rs2056444 0.58519
NM_207346.3(TSEN54):c.1041G>C (p.Lys347Asn) rs9911502 0.58492
NM_030632.3(ASXL3):c.1083-75A>G rs1493910 0.58426
NM_020335.3(VANGL2):c.1137A>G (p.Lys379=) rs12086448 0.58424
NM_018161.5(NADSYN1):c.264-26A>G rs2276362 0.58357
NM_001104631.2(PDE4D):c.*2515A>T rs829259 0.58301
NM_001048166.1(STIL):c.257C>T (p.Ala86Val) rs3125630 0.58260
NM_024996.7(GFM1):c.*226C>T rs1047366 0.58206
NM_001382817.3(AGT):c.-30-3273G>A rs5051 0.58201
NM_024996.7(GFM1):c.643G>A (p.Val215Ile) rs2303909 0.58201
NM_030665.4(RAI1):c.1992G>A (p.Pro664=) rs8067439 0.58185
NM_024996.7(GFM1):c.18T>C (p.Ala6=) rs1864507 0.58169
NM_005751.5(AKAP9):c.-124G>C rs4727267 0.58166
NM_130466.4(UBE3B):c.1037G>A (p.Arg346Gln) rs7298565 0.58155
NM_000526.5(KRT14):c.193C>T (p.Leu65=) rs3826551 0.58145
NM_018668.5(VPS33B):c.1540G>A (p.Gly514Ser) rs11073964 0.58143
NM_001070.5(TUBG1):c.1029C>G (p.Arg343=) rs1045710 0.58061
NM_001122659.3(EDNRB):c.831A>G (p.Leu277=) rs5351 0.58046
NM_001166114.2(PNPLA6):c.3398-36G>A rs535208 0.58035
NM_001122681.2(SH3BP2):c.*4098G>A rs9715869 0.58002
NM_139057.4(ADAMTS17):c.873+62C>T rs4965296 0.57943
NM_080680.3(COL11A2):c.2628+3G>A rs970901 0.57903
NM_152269.5(MTRFR):c.*483G>A rs1969355 0.57786
NM_182961.4(SYNE1):c.10866T>C (p.Ser3622=) rs9397102 0.57769
NC_000001.11:g.230710048A>G rs699 0.57702
NM_032018.7(SPRTN):c.887C>T (p.Pro296Leu) rs2437150 0.57699
NM_002693.3(POLG):c.1250+188A>G rs3176174 0.57671
NM_145068.4(TRPV3):c.*656G>T rs7208811 0.57605
NM_080916.3(DGUOK):c.*13A>T rs4777 0.57593
NM_002645.4(PIK3C2A):c.*13T>C rs10832733 0.57555
NM_000287.4(PEX6):c.2667-48G>A rs2274517 0.57547
NM_001206999.2(CIT):c.2880T>C (p.Ala960=) rs904655 0.57517
NM_002470.4(MYH3):c.4731C>T (p.Ile1577=) rs2285479 0.57510
NM_014141.6(CNTNAP2):c.3723G>A (p.Ala1241=) rs9648691 0.57506
NM_025136.4(OPA3):c.*6012A>G rs11083772 0.57481
NM_017617.5(NOTCH1):c.1441+7C>T rs9411208 0.57467
NM_022662.4(ANAPC1):c.1791G>A (p.Leu597=) rs4848197 0.57441
NM_139057.4(ADAMTS17):c.*189G>C rs2581343 0.57417
NM_182961.4(SYNE1):c.11580+15C>T rs6908392 0.57402
NM_015681.6(B9D1):c.472+28C>T rs4924987 0.57381
NM_001379210.1(SLC25A26):c.623C>T (p.Thr208Met) rs13874 0.57380
NM_001122681.2(SH3BP2):c.*2202G>C rs1263416 0.57329
NM_002470.4(MYH3):c.2532A>G (p.Ala844=) rs2285469 0.57316
NM_002470.4(MYH3):c.2166-15A>G rs876660 0.57314
NM_001854.4(COL11A1):c.2611-19A>C rs11164649 0.57301
NM_002470.4(MYH3):c.1141+32G>A rs2239934 0.57301
NM_002470.4(MYH3):c.2916A>G (p.Thr972=) rs2285472 0.57294
NM_002470.4(MYH3):c.2926-12A>G rs2285473 0.57289
NM_032018.7(SPRTN):c.451-33T>C rs2474634 0.57289
NM_002470.4(MYH3):c.2952T>C (p.Ser984=) rs2285474 0.57288
NM_002470.4(MYH3):c.4956+32C>T rs4792008 0.57288
NM_002470.4(MYH3):c.1003-22C>T rs2239933 0.57286
NM_002709.3(PPP1CB):c.201A>G (p.Gln67=) rs1128416 0.57257
NM_001122681.2(SH3BP2):c.*1067C>T rs231394 0.57252
NM_020779.4(WDR35):c.25-46G>A rs3731663 0.57247
NM_018668.5(VPS33B):c.-325T>C rs11073967 0.57234
NM_021926.4(ALX4):c.778-140G>C rs10769024 0.57195
NM_002470.4(MYH3):c.349-43C>T rs2285466 0.57166
NM_000093.5(COL5A1):c.1432-5T>C rs3128612 0.57159
NM_000093.5(COL5A1):c.1432-24C>T rs3109677 0.57123
NM_198525.3(KIF7):c.3112-11_3112-10insCT rs35820949 0.57089
NM_139057.4(ADAMTS17):c.2950-45C>T rs11634977 0.57048
NM_001378615.1(CC2D2A):c.*21G>C rs1134634 0.57021
NM_000719.7(CACNA1C):c.5361G>A (p.Thr1787=) rs1051375 0.57002
NM_000516.7(GNAS):c.393C>T (p.Ile131=) rs7121 0.56988
NM_001080414.4(CCDC88C):c.3966+12G>A rs3742656 0.56935
NM_003640.5(ELP1):c.958+56A>T rs1772046 0.56907
NM_002693.3(POLG):c.2071-22T>C rs2072267 0.56891
NM_000287.4(PEX6):c.1961+20G>A rs2274514 0.56870
NM_000287.4(PEX6):c.1885-24G>A rs3818554 0.56866
NM_000218.3(KCNQ1):c.1393+28111T>G rs114030398 0.56819
NM_004959.5(NR5A1):c.*82C>T rs915034 0.56771
NM_015910.7(WDPCP):c.1624+24T>A rs2138796 0.56759
NM_018161.5(NADSYN1):c.408-21C>T rs2282621 0.56759
NM_000287.4(PEX6):c.2814G>A (p.Glu938=) rs1129186 0.56758
NM_032656.4(DHX37):c.2579-7T>C rs4606565 0.56718
NM_000719.7(CACNA1C):c.4074+36G>A rs1990322 0.56695
NM_022482.5(GZF1):c.824A>C (p.Gln275Pro) rs6048760 0.56687
NM_032656.4(DHX37):c.2695+12T>C rs12367953 0.56686
NM_032656.4(DHX37):c.2793A>G (p.Ala931=) rs4429156 0.56645
NM_000435.3(NOTCH3):c.3837+21T>A rs11670823 0.56639
NM_176787.5(PIGN):c.741C>T (p.His247=) rs9320000 0.56637
NM_001042492.3(NF1):c.702G>A (p.Leu234=) rs1801052 0.56607
NM_001005361.3(DNM2):c.236-29C>G rs3826803 0.56569
NM_006908.5(RAC1):c.225+18C>T rs836478 0.56557
NM_020223.4(FAM20C):c.956+61A>G rs146778412 0.56545
NM_001164508.2(NEB):c.20998-44A>C rs3732310 0.56531
NM_032656.4(DHX37):c.2605A>G (p.Ser869Gly) rs4516060 0.56530
NM_025265.4(TSEN2):c.-209G>T rs709161 0.56522
NM_001042492.3(NF1):c.288+41G>A rs2952976 0.56461
NM_000435.3(NOTCH3):c.2538C>T (p.Cys846=) rs1043996 0.56438
NM_006953.4(UPK3A):c.549A>G (p.Ser183=) rs1135360 0.56430
NM_000789.4(ACE):c.2328G>A (p.Thr776=) rs4343 0.56401
NM_001379081.2(FREM1):c.1315G>C (p.Val439Leu) rs2779500 0.56393
NM_018161.5(NADSYN1):c.408-18C>T rs2282620 0.56366
NM_032656.4(DHX37):c.2598G>A (p.Glu866=) rs4258464 0.56360
NM_000526.5(KRT14):c.189C>T (p.Cys63=) rs11551758 0.56357
NM_000526.5(KRT14):c.369T>C (p.Asn123=) rs3826549 0.56333
NM_001080414.4(CCDC88C):c.3009A>G (p.Leu1003=) rs1970912 0.56314
NM_001079520.2(DACT1):c.268C>T (p.Leu90=) rs2003021 0.56249
NM_145199.3(LIPT1):c.565T>C (p.Leu189=) rs2632277 0.56210
NM_015681.6(B9D1):c.63+23G>A rs10445411 0.56182
NM_001360.3(DHCR7):c.1272C>T (p.Gly424=) rs909217 0.56172
NM_022369.4(STRA6):c.*222G>A rs10910 0.56107
NM_001853.4(COL9A3):c.1008+10C>T rs6062700 0.56099
NM_001369268.1(ACAN):c.2789G>T (p.Ser930Ile) rs938608 0.56082
NM_000557.5(GDF5):c.-48= rs143384 0.56056
NM_006739.4(MCM5):c.423+7C>T rs713618 0.56028
NM_018055.5(NODAL):c.494A>G (p.His165Arg) rs1904589 0.56006
NM_001361.5(DHODH):c.*1051A>G rs2287999 0.55850
NM_001361.5(DHODH):c.*783A>G rs2288000 0.55819
NM_182961.4(SYNE1):c.12180G>T (p.Glu4060Asp) rs4645434 0.55815
NM_001164508.2(NEB):c.19731+103G>T rs4575719 0.55813
NM_000719.7(CACNA1C):c.4233-136G>A rs7315556 0.55808
NM_001361.5(DHODH):c.*1171T>C rs2287998 0.55799
NM_001361.5(DHODH):c.*574G>T rs2288001 0.55770
NM_001379286.1(ZNF423):c.567T>C (p.Arg189=) rs3803665 0.55755
NM_001303.4(COX10):c.699A>G (p.Pro233=) rs2230354 0.55696
NM_001164508.2(NEB):c.21585A>G (p.Thr7195=) rs4664475 0.55659
NM_002465.4(MYBPC1):c.*78G>A rs2764 0.55606
NM_001164508.2(NEB):c.21522+78C>G rs60806638 0.55600
NM_001174147.2(LMX1B):c.*2184A>G rs10733682 0.55594
NM_015693.4(INTU):c.471A>G (p.Arg157=) rs3749507 0.55539
NM_006218.4(PIK3CA):c.1060-17C>A rs2699896 0.55517
NM_032656.4(DHX37):c.3242G>A (p.Arg1081Gln) rs4447263 0.55494
NM_001102401.4(TTI2):c.188A>G (p.Glu63Gly) rs2304748 0.55441
NM_015330.6(SPECC1L):c.2560+46C>T rs5760351 0.55421
NM_005908.4(MANBA):c.*384C>T rs4019 0.55353
NM_005908.4(MANBA):c.*401G>A rs4013 0.55336
NM_005908.4(MANBA):c.2015-28G>A rs4547797 0.55331
NM_004544.4(NDUFA10):c.*1957G>A rs4854069 0.55325
NM_005908.4(MANBA):c.2368T>C (p.Leu790=) rs2272697 0.55313
NM_005908.4(MANBA):c.*124T>C rs3194585 0.55297
NM_005908.4(MANBA):c.*161C>T rs1054029 0.55296
NM_001069.3(TUBB2A):c.564T>G (p.Ser188=) rs17849443 0.55272
NM_004958.4(MTOR):c.4731G>A (p.Ala1577=) rs1057079 0.55171
NM_012398.3(PIP5K1C):c.468+20C>T rs3826944 0.55166
NM_005159.4(ACTC1):c.*1682A>G rs533021 0.55143
NM_020812.4(DOCK6):c.4050T>C (p.Asn1350=) rs2304155 0.55134
NM_000226.4(KRT9):c.726-9G>T rs3816510 0.55106
NM_004064.5(CDKN1B):c.*956C>A rs7330 0.55098
NM_001365951.3(KIF1B):c.*2042C>T rs1536262 0.55000
NM_013432.5(TONSL):c.2852+24C>T rs1010427 0.54997
NM_001365276.2(TNXB):c.*163G>A rs1058152 0.54891
NM_000368.5(TSC1):c.*1322C>T rs2809243 0.54889
NM_004629.2(FANCG):c.84+77C>A rs504082 0.54871
NM_000088.4(COL1A1):c.299-20C>G rs2256835 0.54824
NM_181486.4(TBX5):c.663+36G>T rs2236017 0.54802
NM_004260.4(RECQL4):c.132A>G (p.Glu44=) rs2306386 0.54741
NM_001365276.2(TNXB):c.11531-25T>C rs2856451 0.54722
NM_001379210.1(SLC25A26):c.498+13G>A rs332354 0.54714
NM_017909.4(RMND1):c.1002+47T>G rs6912830 0.54650
NM_016138.5(COQ7):c.308C>T (p.Thr103Met) rs11074359 0.54635
NM_003014.4(SFRP4):c.786C>T (p.Arg262=) rs1132553 0.54626
NM_020639.3(RIPK4):c.1196-43A>G rs3746895 0.54619
NM_004376.6(COX15):c.-597A>C rs2281636 0.54611
NM_000199.5(SGSH):c.250-26C>T rs4889839 0.54568
NM_145068.4(TRPV3):c.1923C>T (p.Asp641=) rs7216486 0.54548
NM_001361.5(DHODH):c.518-39G>T rs1862752 0.54545
NM_133267.3(GSX2):c.408T>C (p.His136=) rs1132998 0.54504
NM_133267.3(GSX2):c.156C>T (p.Ser52=) rs3194383 0.54449
NM_004376.6(COX15):c.-435C>T rs2231675 0.54408
NM_004525.3(LRP2):c.2460A>G (p.Thr820=) rs2241190 0.54408
NM_013432.5(TONSL):c.1477G>A (p.Gly493Ser) rs2229315 0.54319
NM_015559.3(SETBP1):c.540+7422_540+7423insTCTT rs3085861 0.54222
NM_052867.4(NALCN):c.800-35G>A rs570252 0.54204
NM_005908.4(MANBA):c.*505G>A rs1054037 0.54146
NM_001953.5(TYMP):c.516+27A>G rs470119 0.54142
NM_024809.5(TCTN2):c.1128T>C (p.Pro376=) rs7966867 0.54127
NM_130837.3(OPA1):c.*1113C>T rs12630 0.54101
NM_018718.3(CEP41):c.*5102G>A rs1990790 0.54035
NM_001361.5(DHODH):c.19A>C (p.Lys7Gln) rs3213422 0.54012
NM_000059.4(BRCA2):c.7806-14T>C rs9534262 0.53977
NM_012463.4(ATP6V0A2):c.*1128T>C rs10744162 0.53964
NM_016042.4(EXOSC3):c.498G>A (p.Gln166=) rs7158 0.53959
NM_020812.4(DOCK6):c.749C>T (p.Pro250Leu) rs12978266 0.53878
NM_145861.4(EDARADD):c.62-41A>G rs669710 0.53840
NM_030653.4(DDX11):c.2536+13G>A rs3925641 0.53836
NM_030653.4(DDX11):c.2271+18G>A rs10771803 0.53832
NM_030653.4(DDX11):c.2053-15C>T rs7966272 0.53829
NM_003489.4(NRIP1):c.225G>A (p.Gly75=) rs2229741 0.53818
NM_030653.4(DDX11):c.2572G>A (p.Val858Ile) rs1046457 0.53816
NC_000001.11:g.10381606T>C rs3748581 0.53815
NM_005886.3(KATNB1):c.726C>T (p.Asp242=) rs2965798 0.53803
NM_001018113.3(FANCB):c.1327-10T>C rs2905223 0.53797
NM_017777.4(MKS1):c.858+9A>G rs3826300 0.53797
NM_000135.4(FANCA):c.3934+55T>A rs7195906 0.53795
NM_001360.3(DHCR7):c.322-60G>T rs11603330 0.53778
NM_017777.4(MKS1):c.750-105T>C rs3744105 0.53777
NM_005886.3(KATNB1):c.704+4C>T rs2965797 0.53764
NM_004525.3(LRP2):c.3069A>G (p.Thr1023=) rs831043 0.53755
NM_080473.5(GATA5):c.1128A>G (p.Pro376=) rs6061550 0.53748
NM_005555.4(KRT6B):c.62A>G (p.Asn21Ser) rs428894 0.53742
NM_012398.3(PIP5K1C):c.1787+31G>A rs3815338 0.53685
NM_018275.5(TRAPPC14):c.1396-43T>C rs2272337 0.53650
NM_015909.4(NBAS):c.5138+24G>A rs4668892 0.53637
NM_001365276.2(TNXB):c.7251A>G (p.Leu2417=) rs204886 0.53630
NM_000046.5(ARSB):c.*1302G>T rs754566 0.53627
NM_198525.3(KIF7):c.3048G>A (p.Ser1016=) rs9672286 0.53592
NM_004525.3(LRP2):c.3550+14C>T rs2075254 0.53578
NM_198525.3(KIF7):c.2896-14G>A rs9672296 0.53577
NM_020223.4(FAM20C):c.*41C>G rs36138803 0.53518
NM_030653.4(DDX11):c.684+8A>G rs7308773 0.53493
NM_001303.4(COX10):c.504G>A (p.Leu168=) rs2159132 0.53492
NM_001163809.2(WDR81):c.4743A>G (p.Pro1581=) rs3809871 0.53472
NM_030653.4(DDX11):c.855T>C (p.Cys285=) rs3881298 0.53406
NM_000135.4(FANCA):c.1226-80T>C rs6500450 0.53395
NM_013432.5(TONSL):c.1653+40T>C rs13255086 0.53389
NM_000135.4(FANCA):c.1084-49G>C rs1800287 0.53385
NM_000226.4(KRT9):c.1407A>T (p.Gly469=) rs3890472 0.53384
NM_014875.3(KIF14):c.4020G>A (p.Glu1340=) rs7543730 0.53314
NM_000921.5(PDE3A):c.2925+15T>C rs10743384 0.53300
NM_030653.4(DDX11):c.1983C>T (p.Leu661=) rs1046456 0.53295
NM_001793.6(CDH3):c.2239C>A (p.Arg747=) rs17715450 0.53279
NM_012233.3(RAB3GAP1):c.2265T>C (p.Phe755=) rs17261772 0.53257
NM_030653.4(DDX11):c.880+16A>G rs2075318 0.53242
NM_001083962.2(TCF4):c.789+23C>T rs1788027 0.53241
NM_001064.4(TKT):c.1264+17T>C rs3736156 0.53227
NM_004813.4(PEX16):c.*303C>T rs10838529 0.53226
NM_020639.3(RIPK4):c.1548C>T (p.Asp516=) rs2838113 0.53199
NM_030653.4(DDX11):c.639-10A>T rs7308754 0.53173
NM_003632.3(CNTNAP1):c.1736-22G>A rs3760386 0.53157
NM_005993.5(TBCD):c.3281+17G>A rs8079398 0.53119
NM_014874.3(MFN2):c.-212T>C rs2180183 0.53102
NM_001126121.2(SLC25A19):c.*274C>G rs7198 0.53096
NM_213599.3(ANO5):c.*496A>G rs10766930 0.53080
NM_000557.5(GDF5):c.-275= rs143383 0.53070
NM_001394062.1(MACF1):c.20186G>C (p.Ser6729Thr) rs668556 0.53026
NM_015909.4(NBAS):c.727A>G (p.Ile243Val) rs13029846 0.52998
NM_005006.7(NDUFS1):c.*336G>T rs1044120 0.52989
NM_020223.4(FAM20C):c.1659G>T (p.Val553=) rs36170987 0.52970
NM_001378615.1(CC2D2A):c.1765-24A>G rs1861044 0.52969
NM_001126121.2(SLC25A19):c.819G>A (p.Leu273=) rs4789164 0.52943
NM_001369268.1(ACAN):c.757+53T>G rs2293087 0.52913
NM_001042492.3(NF1):c.1641+39T>C rs2905880 0.52895
NM_030653.4(DDX11):c.1699C>G (p.Gln567Glu) rs2075322 0.52892
NM_001042492.3(NF1):c.1393-32T>C rs2905876 0.52881
NM_001042492.3(NF1):c.6148-28T>A rs7406039 0.52859
NM_000208.4(INSR):c.1483+31T>C rs2860178 0.52842
NM_005529.7(HSPG2):c.474G>T (p.Gly158=) rs2254358 0.52823
NM_152281.3(GORAB):c.883G>A (p.Glu295Lys) rs913257 0.52780
NM_001985.3(ETFB):c.461C>T (p.Thr154Met) rs1130426 0.52772
NM_153717.3(EVC):c.1026G>C (p.Leu342=) rs4688962 0.52761
NM_012463.4(ATP6V0A2):c.*3425G>A rs2333834 0.52752
NM_176787.5(PIGN):c.344-30T>A rs1021953 0.52712
NM_014874.3(MFN2):c.-367A>G rs2236054 0.52635
NM_000135.4(FANCA):c.596+74G>A rs1800285 0.52593
NM_001369268.1(ACAN):c.2815T>A (p.Ser939Thr) rs938609 0.52582
NM_020159.5(SMARCAD1):c.1839C>T (p.Asp613=) rs6823404 0.52569
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala) rs7190823 0.52564
NM_020442.6(VARS2):c.-28+82T>C rs1264306 0.52561
NM_014317.5(PDSS1):c.336+22G>A rs1748356 0.52543
NM_198525.3(KIF7):c.3013G>A (p.Gly1005Arg) rs12900805 0.52523
NM_022356.4(P3H1):c.1839-30G>A rs3738499 0.52507
NM_002076.4(GNS):c.*2361C>G rs1061743 0.52503
NM_001397406.1(FDX2):c.45A>G (p.Leu15=) rs395782 0.52486
NM_133459.4(CCBE1):c.*2361G>A rs9959752 0.52467
NM_004525.3(LRP2):c.3667+20A>C rs831041 0.52466
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile) rs3803530 0.52464
NM_007118.4(TRIO):c.5497-48C>T rs27100 0.52401
NM_002470.4(MYH3):c.349-76T>C rs71360285 0.52372
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala) rs214976 0.52364
NM_001982.4(ERBB3):c.234+8A>T rs2271194 0.52361
NM_012431.3(SEMA3E):c.550+40G>A rs2713145 0.52350
NM_001397406.1(FDX2):c.159T>G (p.Ala53=) rs378395 0.52347
NM_001374828.1(ARID1B):c.2382G>A (p.Ala794=) rs3734441 0.52321
NM_145068.4(TRPV3):c.558A>C (p.Ile186=) rs11078458 0.52296
NM_032634.4(PIGO):c.1119+7A>G rs568300 0.52243
NM_000553.6(WRN):c.1350+22T>C rs2737325 0.52238
NM_000088.4(COL1A1):c.4249-12G>A rs2249492 0.52233
NM_000891.3(KCNJ2):c.*1267A>G rs236514 0.52229
NM_022336.4(EDAR):c.*2426C>T rs1478517 0.52218
NM_001127649.3(PEX26):c.*1265T>A rs456551 0.52154
NM_000181.4(GUSB):c.1065+27C>G rs781143 0.52153
NM_000514.4(GDNF):c.*1605T>C rs3749692 0.52136
NM_003737.4(DCHS1):c.4215T>C (p.Leu1405=) rs2659872 0.52121
NM_002662.5(PLD1):c.2667A>C (p.Val889=) rs9881788 0.52060
NM_025132.4(WDR19):c.*229C>T rs7564 0.52060
NM_024407.5(NDUFS7):c.68C>T (p.Pro23Leu) rs1142530 0.52046
NM_001127649.3(PEX26):c.*167G>A rs464385 0.52045
NM_003922.4(HERC1):c.5675-7A>G rs11630720 0.52041
NM_005633.4(SOS1):c.*328A>G rs1059310 0.52005
NM_001101.5(ACTB):c.364-16T>C rs852423 0.51966
NM_001106.4(ACVR2B):c.333A>G (p.Glu111=) rs2070489 0.51926
NM_016343.4(CENPF):c.8186G>A (p.Arg2729Gln) rs335524 0.51917
NM_182961.4(SYNE1):c.3505-39A>C rs502268 0.51916
NM_005993.5(TBCD):c.1319-43G>A rs3744161 0.51908
NM_012082.4(ZFPM2):c.532+28227T>C rs2218279 0.51867
NM_025074.7(FRAS1):c.10696G>A (p.Val3566Ile) rs931606 0.51866
NM_005138.3(SCO2):c.-78G>C rs131806 0.51847
NM_022166.4(XYLT1):c.1989C>T (p.Ala663=) rs12708815 0.51842
NM_178161.3(PTF1A):c.787T>C (p.Ser263Pro) rs7918487 0.51842
NM_001128159.3(VPS53):c.1557-30T>C rs741677 0.51785
NM_182943.3(PLOD2):c.*37A>G rs6710 0.51778
NM_005996.4(TBX3):c.*739A>G rs8853 0.51729
NM_000257.4(MYH7):c.-9+23T>C rs2239578 0.51695
NM_000135.4(FANCA):c.2222+107T>C rs886951 0.51679
NM_000257.4(MYH7):c.189C>T (p.Thr63=) rs2069540 0.51584
NM_002272.4(KRT4):c.215C>T (p.Ala72Val) rs2638525 0.51489
NM_004134.7(HSPA9):c.1933C>T (p.Leu645=) rs10117 0.51456
NM_000233.4(LHCGR):c.1065T>C (p.Asp355=) rs11125179 0.51451
NM_000414.4(HSD17B4):c.434+120A>G rs463513 0.51367
NM_025132.4(WDR19):c.3716+46dup rs11096989 0.51347
NM_000093.5(COL5A1):c.2952+11A>T rs4240707 0.51337
NM_001042475.3(CEP85L):c.409A>G (p.Ser137Gly) rs3734381 0.51329
NM_000218.3(KCNQ1):c.386+32464G>A rs757092 0.51306
NM_025132.4(WDR19):c.3841-27T>C rs12648082 0.51304
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359 0.51262
NM_025074.7(FRAS1):c.9116-11T>C rs7677541 0.51261
NM_001365276.2(TNXB):c.3482A>G (p.His1161Arg) rs185819 0.51248
NM_000238.4(KCNH2):c.1692A>G (p.Leu564=) rs1805121 0.51247
NM_003000.3(SDHB):c.642+325C>T rs2235930 0.51227
NM_012431.3(SEMA3E):c.998+12A>T rs2245441 0.51207
NM_016111.4(TELO2):c.437A>G (p.Gln146Arg) rs2235624 0.51194
NM_000789.4(ACE):c.3387T>C (p.Phe1129=) rs4362 0.51177
NM_001931.5(DLAT):c.953T>C (p.Val318Ala) rs627441 0.51169
NM_001429.4(EP300):c.4453-23T>C rs2076577 0.51146
NM_000135.4(FANCA):c.1826+15T>C rs1800337 0.51138
NM_001953.5(TYMP):c.972C>T (p.Ala324=) rs131804 0.51130
NM_001042492.3(NF1):c.6148-29T>A rs7406038 0.51122
NM_000288.4(PEX7):c.*306T>G rs1050803 0.51106
NM_002076.4(GNS):c.*1353G>A rs1269548 0.51078
NM_016343.4(CENPF):c.8827A>G (p.Arg2943Gly) rs438034 0.51075
NM_002485.5(NBN):c.1197T>C (p.Asp399=) rs709816 0.51063
NM_000135.4(FANCA):c.2222+100A>G rs886950 0.51061
NM_000233.4(LHCGR):c.935A>G (p.Asn312Ser) rs2293275 0.51043
NM_003630.3(PEX3):c.942-13A>G rs161058 0.51037
NM_000528.4(MAN2B1):c.1310-22C>T rs73002392 0.50963
NM_006953.4(UPK3A):c.858A>G (p.Gln286=) rs1057356 0.50960
NM_018714.3(COG1):c.1175A>G (p.Asn392Ser) rs1026128 0.50958
NM_001164508.2(NEB):c.10452+71T>C rs10186482 0.50955
NM_001042545.2(LTBP4):c.379G>A (p.Val127Ile) rs2303729 0.50929
NM_052859.4(RFT1):c.1103-24T>C rs2581829 0.50896
NM_018714.2(COG1):c.-27A>G rs3764359 0.50887
NM_000489.6(ATRX):c.2785G>C (p.Glu929Gln) rs3088074 0.50884
NM_000088.4(COL1A1):c.2560-18C>G rs2075559 0.50861
NM_014865.4(NCAPD2):c.1920C>A (p.Ile640=) rs917634 0.50857
NM_000719.7(CACNA1C):c.477+154409T>G rs2238057 0.50852
NM_000789.4(ACE):c.3692-6G>A rs4363 0.50850
NM_000047.3(ARSL):c.1270G>A (p.Gly424Ser) rs35143646 0.50841
NM_024809.5(TCTN2):c.1099+19T>C rs7137946 0.50815
NM_000288.4(PEX7):c.130+48_130+53dup rs11283064 0.50803
NM_182943.3(PLOD2):c.2121+26A>G rs2305274 0.50798
NM_145068.4(TRPV3):c.*1039T>C rs10852860 0.50746
NM_032656.4(DHX37):c.2869-38G>A rs10773125 0.50743
NM_020812.4(DOCK6):c.4044G>A (p.Pro1348=) rs2304154 0.50722
NM_015909.4(NBAS):c.1964A>G (p.Lys655Arg) rs4668909 0.50682
NM_000181.4(GUSB):c.1946T>C (p.Leu649Pro) rs9530 0.50676
NM_024809.5(TCTN2):c.891+22T>C rs7302449 0.50676
NM_000027.4(AGA):c.*183A>C rs1061814 0.50675
NM_002334.4(LRP4):c.3256A>G (p.Ile1086Val) rs6485702 0.50674
NM_001199198.3(TBC1D23):c.876+27G>T rs3772698 0.50657
NM_015340.4(LARS2):c.1760+12T>C rs2306522 0.50630
NM_020442.6(VARS2):c.2186-10T>C rs753725 0.50613
NM_000719.7(CACNA1C):c.1114-487A>G rs1008832 0.50604
NM_014008.5(CCDC22):c.1540-18T>C rs2294021 0.50585
NM_001206999.2(CIT):c.2871A>G (p.Thr957=) rs904654 0.50582
NM_020442.6(VARS2):c.1345T>C (p.Trp449Arg) rs2249464 0.50569
NM_000135.4(FANCA):c.1471-119A>T rs12448860 0.50554
NM_012398.3(PIP5K1C):c.1345+25C>T rs12460780 0.50552
NM_000318.3(PEX2):c.*2663T>A rs28435921 0.50526
NM_005529.7(HSPG2):c.3897G>A (p.Val1299=) rs2229482 0.50526
NM_013432.5(TONSL):c.578+18C>T rs741969 0.50524
NM_004525.3(LRP2):c.3660A>G (p.Ala1220=) rs831042 0.50520
NM_000135.4(FANCA):c.1715+82T>C rs1800335 0.50497
NM_001379081.2(FREM1):c.4785C>T (p.Ala1595=) rs10733289 0.50486
NM_133259.4(LRPPRC):c.2080-40A>C rs7594526 0.50485
NM_025074.7(FRAS1):c.9116-5C>G rs7695038 0.50468
NM_003923.2(FOXH1):c.-314T>G rs750472 0.50411
NM_033116.6(NEK9):c.300T>A (p.Ile100=) rs175449 0.50389
NM_002968.3(SALL1):c.2574C>T (p.Leu858=) rs1965024 0.50381
NM_182961.4(SYNE1):c.1047+4T>A rs9397106 0.50379
NM_004208.4(AIFM1):c.273T>C (p.Asp91=) rs1139851 0.50355
NM_032656.4(DHX37):c.2046-6A>G rs4765007 0.50353
NM_139057.4(ADAMTS17):c.2949+35G>A rs7175995 0.50353
NM_000219.6(KCNE1):c.*1219A>G rs11909074 0.50320
NM_001042545.2(LTBP4):c.3687C>T (p.Asp1229=) rs7367 0.50292
NM_025074.7(FRAS1):c.95A>G (p.Asp32Gly) rs4859905 0.50277
NM_004782.4(SNAP29):c.-19C>T rs1061063 0.50257
NM_001358530.2(MOCS1):c.124-216A>G rs3008822 0.50249
NM_001166114.2(PNPLA6):c.2260+24G>A rs473899 0.50240
NM_130837.3(OPA1):c.473G>A (p.Ser158Asn) rs7624750 0.50224
NM_021224.6(ZNF462):c.5483A>G (p.Asn1828Ser) rs3814538 0.50206
NM_020771.4(HACE1):c.816+4T>A rs6918700 0.50198
NM_013432.5(TONSL):c.1263C>T (p.Ala421=) rs2229313 0.50185
NM_080680.3(COL11A2):c.3174G>A (p.Pro1058=) rs1799910 0.50179
NM_002295.6(RPSA):c.-8T>C rs1803893 0.50177
NM_001083962.2(TCF4):c.*5106T>C rs1261084 0.50173
NM_025265.4(TSEN2):c.*292G>T rs299643 0.50169
NM_000135.4(FANCA):c.1826+99T>A rs7187436 0.50149
NM_130837.3(OPA1):c.2274T>C (p.Ala758=) rs9851685 0.50117
NM_052867.4(NALCN):c.2118+9T>C rs661585 0.50096
NM_002472.3(MYH8):c.5074T>C (p.Trp1692Arg) rs8069834 0.50046
NM_001999.4(FBN2):c.533-2432T>C rs17677603 0.50039
NM_001854.4(COL11A1):c.3968C>T (p.Pro1323Leu) rs3753841 0.50032
NM_020745.4(AARS2):c.243+6G>A rs167772 0.50019
NM_001369268.1(ACAN):c.3637G>A (p.Ala1213Thr) rs11638262 0.50000
NM_001378964.1(CDON):c.*2740T>C rs2186754 0.49995
NM_145199.3(LIPT1):c.711T>C (p.Ala237=) rs2516835 0.49987
NM_001366722.1(GRIP1):c.1838+13G>T rs7397862 0.49975
NM_005045.4(RELN):c.8046T>C (p.His2682=) rs2229864 0.49951
NM_173086.5(KRT6C):c.1257A>C (p.Ala419=) rs382367 0.49934
NM_001042492.3(NF1):c.5609+19T>A rs2285894 0.49901
NM_016580.4(PCDH12):c.2133C>T (p.Ala711=) rs164074 0.49888
NM_024757.5(EHMT1):c.1089T>C (p.Gly363=) rs1129768 0.49865
NM_025233.7(COASY):c.164C>A (p.Ser55Tyr) rs615942 0.49854
NM_139057.4(ADAMTS17):c.2796+96G>A rs12900132 0.49795
NM_005993.5(TBCD):c.3191+27T>C rs898095 0.49748
NM_004782.4(SNAP29):c.*1563T>G rs11577 0.49742
NM_182961.4(SYNE1):c.9147-13G>A rs214955 0.49738
NM_004279.3(PMPCB):c.737-3T>C rs11489600 0.49723
NM_030928.4(CDT1):c.784A>G (p.Thr262Ala) rs480727 0.49695
NM_000181.4(GUSB):c.1653+151A>G rs1880555 0.49681
NM_005045.4(RELN):c.578-3T>C rs607755 0.49658
NM_153240.4(NPHP3):c.-69A>G rs13099099 0.49619
NM_004826.4(ECEL1):c.2229-29A>C rs2741279 0.49585
NM_000104.4(CYP1B1):c.1347T>C (p.Asp449=) rs1056837 0.49486
NM_006918.5(SC5D):c.*1626A>T rs2060008 0.49477
NM_014804.3(KIAA0753):c.1330G>A (p.Asp444Asn) rs2289643 0.49475
NM_025233.7(COASY):c.972A>G (p.Thr324=) rs598126 0.49440
NM_012431.3(SEMA3E):c.603G>T (p.Ala201=) rs2722985 0.49353
NM_001042492.3(NF1):c.7458-29G>A rs964288 0.49344
NM_001854.4(COL11A1):c.4770T>C (p.Ile1590=) rs2229783 0.49335
NM_012431.3(SEMA3E):c.671-47A>T rs2709941 0.49328
NM_020812.4(DOCK6):c.4959C>T (p.Asn1653=) rs8409 0.49265
NM_014141.5(CNTNAP2):c.-115G>A rs2462603 0.49254
NM_032888.4(COL27A1):c.3250-136C>T rs1623718 0.49200
NM_000489.6(ATRX):c.2785= (p.Glu929=) rs3088074 0.49116
NM_024009.3(GJB3):c.*53G>A rs476220 0.49114
NM_001042492.3(NF1):c.*2265C>G rs1800845 0.49084
NM_001378964.1(CDON):c.*2830A>G rs1065398 0.49008
NM_000860.6(HPGD):c.*630G>A rs8752 0.48994
NM_004625.4(WNT7A):c.298+37C>A rs3749319 0.48979
NM_017617.5(NOTCH1):c.2588-4G>A rs3125001 0.48926
NM_019023.5(PRMT7):c.1797C>T (p.Thr599=) rs1131933 0.48912
NM_005559.4(LAMA1):c.3378T>C (p.Gly1126=) rs9946794 0.48883
NM_001303.4(COX10):c.476G>A (p.Arg159Gln) rs2072279 0.48875
NM_003922.4(HERC1):c.6658A>G (p.Ile2220Val) rs2228510 0.48869
NM_182961.4(SYNE1):c.12795-12A>G rs9478314 0.48867
NM_014141.6(CNTNAP2):c.*2157A>G rs1062072 0.48864
NM_033109.5(PNPT1):c.1390C>A (p.Arg464=) rs2627765 0.48848
NM_182961.4(SYNE1):c.8177+20A>T rs214943 0.48837
NM_005559.4(LAMA1):c.2493T>C (p.Cys831=) rs684634 0.48817
NM_005993.5(TBCD):c.1850T>C (p.Met617Thr) rs2292971 0.48782
NM_000104.4(CYP1B1):c.1294= (p.Leu432=) rs1056836 0.48746
NM_000104.4(CYP1B1):c.*975A>G rs2855658 0.48745
NM_000135.4(FANCA):c.*673del rs17233826 0.48664
NM_000093.5(COL5A1):c.2845-37A>G rs3811159 0.48658
NM_016952.4(CDON):c.*4135C>T rs4937076 0.48573
NM_001851.6(COL9A1):c.1765-26T>C rs519068 0.48558
NM_005555.4(KRT6B):c.1221C>T (p.Ala407=) rs388626 0.48552
NM_006031.6(PCNT):c.7977G>C (p.Gln2659His) rs2070426 0.48521
NM_001369268.1(ACAN):c.2289C>T (p.Pro763=) rs2351491 0.48499
NM_005559.4(LAMA1):c.5391G>A (p.Leu1797=) rs617206 0.48492
NM_005559.4(LAMA1):c.5496+19C>T rs523711 0.48483
NM_016023.5(OTUD6B):c.141A>G (p.Gln47=) rs11557571 0.48470
NM_001128159.3(VPS53):c.1218+817A>G rs11247553 0.48461
NM_000136.3(FANCC):c.1155-38T>C rs4647534 0.48457
NM_005555.4(KRT6B):c.1093A>G (p.Ile365Val) rs437014 0.48449
NM_015114.3(ANKLE2):c.641-35T>A rs7304425 0.48411
NM_014165.4(NDUFAF4):c.430T>C (p.Leu144=) rs6684 0.48379
NM_002693.3(POLG):c.3643+257T>G rs1061316 0.48343
NM_001018115.3(FANCD2):c.1414-23T>C rs10222446 0.48329
NM_020754.4(ARHGAP31):c.1926+11T>C rs1463138 0.48304
NM_000404.4(GLB1):c.29C>T (p.Pro10Leu) rs7637099 0.48281
NM_182961.4(SYNE1):c.17346+38C>T rs9371581 0.48251
NM_017866.6(TMEM70):c.211-30A>G rs62509309 0.48221
NM_017775.4(TTC19):c.*1791T>C rs9890012 0.48213
NM_005996.4(TBX3):c.390-46C>T rs515746 0.48181
NM_033360.4(KRAS):c.*633T>C rs9266 0.48177
NM_001106.4(ACVR2B):c.*8512A>C rs13072731 0.48169
NM_000193.4(SHH):c.301-49G>A rs1233555 0.48163
NM_144628.4(TBC1D20):c.71-49T>G rs6139203 0.48145
NM_213649.2(SFXN4):c.415-6C>T rs2275111 0.48143
NM_033360.4(KRAS):c.*4200T>A rs12245 0.48134
NM_000219.6(KCNE1):c.*2480A>G rs3453 0.48112
NM_000219.6(KCNE1):c.*456C>T rs2070356 0.48073
NM_144628.4(TBC1D20):c.71-210G>A rs6037661 0.48070
NM_017934.7(PHIP):c.3180T>C (p.Asp1060=) rs7742431 0.48062
NM_001854.4(COL11A1):c.274+42G>C rs11164662 0.48053
NM_017866.6(TMEM70):c.*24C>T rs7108 0.48050
NM_017617.5(NOTCH1):c.1555+10A>G rs11145767 0.47945
NM_001166114.2(PNPLA6):c.3280+38C>T rs489056 0.47937
NM_002474.3(MYH11):c.4117-44C>T rs11130 0.47916
NM_000047.3(ARSL):c.1692C>T (p.Asn564=) rs11222 0.47884
NM_133259.4(LRPPRC):c.2296+27T>G rs28394191 0.47876
NM_015386.3(COG4):c.2142G>A (p.Ser714=) rs11054 0.47870
NM_016580.4(PCDH12):c.291G>A (p.Leu97=) rs164076 0.47857
NM_052859.4(RFT1):c.*334A>G rs2564921 0.47829
NM_178565.5(RSPO2):c.616+42_616+43dup rs3039298 0.47825
NM_018451.5(CPAP):c.3042A>G (p.Glu1014=) rs3742165 0.47759
NM_032801.5(JAM3):c.843-3T>C rs610382 0.47741
NM_030653.4(DDX11):c.638+15G>A rs4931428 0.47740
NM_052859.4(RFT1):c.1623A>G (p.Thr541=) rs11242 0.47740
NM_052859.4(RFT1):c.*2646T>C rs891368 0.47736
NM_182943.3(PLOD2):c.680-45C>T rs3762691 0.47733
NM_182943.3(PLOD2):c.503-47T>C rs9289716 0.47727
NM_052859.4(RFT1):c.*2433C>T rs1078968 0.47710
NM_005269.3(GLI1):c.2798G>A (p.Gly933Asp) rs2228224 0.47688
NM_014244.5(ADAMTS2):c.2291-43T>C rs2251105 0.47685
NM_052859.4(RFT1):c.*2950C>T rs2082093 0.47683
NM_001113378.2(FANCI):c.288+37G>A rs16942918 0.47622
NM_000493.4(COL10A1):c.80T>C (p.Met27Thr) rs1064583 0.47609
NM_033004.4(NLRP1):c.3550A>G (p.Met1184Val) rs11651270 0.47552
NM_000352.6(ABCC8):c.207T>C (p.Pro69=) rs1048099 0.47531
NM_000890.5(KCNJ5):c.*1338del rs144472942 0.47522
NM_015311.3(OBSL1):c.3561T>C (p.Pro1187=) rs2278201 0.47513
NM_004304.5(ALK):c.4587C>G (p.Asp1529Glu) rs1881421 0.47503
NM_005269.3(GLI1):c.576G>A (p.Glu192=) rs2228225 0.47502
NM_022167.4(XYLT2):c.1569T>C (p.Tyr523=) rs4794136 0.47479
NM_000093.5(COL5A1):c.4176+48A>G rs10858283 0.47462
NM_000093.5(COL5A1):c.4176+35A>C rs10776910 0.47443
NM_000199.5(SGSH):c.*855T>C rs1046832 0.47346
NM_014244.5(ADAMTS2):c.*212A>C rs10479525 0.47333
NM_020754.4(ARHGAP31):c.100+77A>T rs3732412 0.47316
NM_014176.4(UBE2T):c.15A>G (p.Ser5=) rs14451 0.47315
NM_182961.4(SYNE1):c.7713-49G>A rs214944 0.47302
NM_000199.5(SGSH):c.*315C>T rs2071148 0.47300
NM_001042545.2(LTBP4):c.2158A>G (p.Thr720Ala) rs1131620 0.47295
NM_207361.6(FREM2):c.*1428A>G rs9548522 0.47270
NM_001042545.2(LTBP4):c.2257A>G (p.Thr753Ala) rs1051303 0.47266
NM_014141.6(CNTNAP2):c.*3742A>G rs2530311 0.47166
NM_014244.5(ADAMTS2):c.975+151T>A rs1862212 0.47156
NM_017617.5(NOTCH1):c.1670-9A>G rs3124603 0.47096
NM_030928.4(CDT1):c.1587C>G (p.Leu529=) rs572275 0.47081
NM_001366722.1(GRIP1):c.*616T>C rs1168308 0.47053
NM_130837.3(OPA1):c.*2092C>T rs1056390 0.46950
NM_015386.3(COG4):c.1482-25T>C rs2303793 0.46944
NM_014141.6(CNTNAP2):c.1897+25A>G rs2074715 0.46942
NM_001851.6(COL9A1):c.1015T>C (p.Ser339Pro) rs592121 0.46927
NM_207361.6(FREM2):c.*5562C>G rs1945507 0.46889
NM_001113378.2(FANCI):c.1698+15C>T rs9806604 0.46880
NM_005559.4(LAMA1):c.2109C>T (p.Ala703=) rs621993 0.46872
NM_005045.4(RELN):c.4589-28A>G rs362726 0.46847
NM_005559.4(LAMA1):c.2051+14A>T rs674733 0.46819
NM_130837.3(OPA1):c.*2391T>C rs11719309 0.46817
NM_000020.3(ACVRL1):c.314-35A>G rs2071219 0.46706
NM_020964.3(EPG5):c.3173T>C (p.Val1058Ala) rs3744998 0.46686
NM_031307.4(PUS3):c.1380G>C (p.Glu460Asp) rs3088241 0.46686
NM_005159.4(ACTC1):c.*2090A>G rs604689 0.46654
NM_001291303.3(FAT4):c.2420C>T (p.Ala807Val) rs1039808 0.46652
NM_014244.5(ADAMTS2):c.*842T>C rs10038484 0.46646
NM_005554.4(KRT6A):c.483T>C (p.Ala161=) rs711317 0.46623
NM_213649.2(SFXN4):c.258A>G (p.Gln86=) rs10749291 0.46610
NM_001286577.2(C2CD3):c.4923A>G (p.Val1641=) rs4453265 0.46577
NM_002381.5(MATN3):c.447C>T (p.Ala149=) rs28598872 0.46576
NM_000789.4(ACE):c.2193A>G (p.Ala731=) rs4331 0.46564
NM_001365276.2(TNXB):c.11387-45T>C rs397948 0.46540
NM_000199.5(SGSH):c.663+17T>C rs6565647 0.46516
NM_139057.4(ADAMTS17):c.*2528T>C rs8037666 0.46516
NM_032888.4(COL27A1):c.4846-56T>C rs1546049 0.46511
NM_006918.5(SC5D):c.*4924T>C rs35288685 0.46507
NM_000352.6(ABCC8):c.579+14C>T rs2301703 0.46493
NM_016169.4(SUFU):c.182+16C>T rs2274351 0.46492
NM_014244.5(ADAMTS2):c.2618-54C>T rs2303643 0.46469
NM_004589.4(SCO1):c.*722C>G rs7512 0.46449
NM_002381.5(MATN3):c.615G>A (p.Glu205=) rs28401180 0.46446
NM_001374828.1(ARID1B):c.2248-35G>A rs3734440 0.46405
NM_000553.6(WRN):c.3222G>T (p.Leu1074Phe) rs1801195 0.46398
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066 0.46389
NM_015311.3(OBSL1):c.5309-29G>A rs4672934 0.46336
NM_080680.3(COL11A2):c.2136A>T (p.Gly712=) rs1799908 0.46292
NM_000553.6(WRN):c.3138+7G>A rs2737335 0.46283
NM_006129.5(BMP1):c.1765+23T>C rs4075478 0.46249
NM_207361.6(FREM2):c.*5733C>T rs1945505 0.46197
NM_005751.5(AKAP9):c.5163-20G>A rs9785013 0.46162
NM_015261.3(NCAPD3):c.2892A>G (p.Val964=) rs2276265 0.46126
NM_017827.4(SARS2):c.*79G>C rs9403 0.46106
NM_001042492.3(NF1):c.*2201G>A rs7406983 0.46089
NC_000009.12:g.35658065G>T rs3829076 0.46029
NM_017775.4(TTC19):c.313-39A>G rs3760298 0.46016
NM_001148.6(ANK2):c.85-57714A>G rs2220208 0.46005
NM_000020.3(ACVRL1):c.313+11C>T rs2071218 0.45979
NM_021224.6(ZNF462):c.3666T>C (p.Asn1222=) rs3814540 0.45895
NM_018055.5(NODAL):c.*740T>C rs2279253 0.45837
NM_004204.5(PIGQ):c.639C>T (p.Cys213=) rs4984669 0.45828
NM_000135.4(FANCA):c.1471-73G>A rs2239360 0.45821
NM_000141.5(FGFR2):c.2301+15C>T rs2278202 0.45747
NM_144966.5(FREM1):c.*2341A>G rs1048070 0.45732
NM_000751.3(CHRND):c.12A>G (p.Pro4=) rs2245601 0.45730
NM_002474.3(MYH11):c.4242T>G (p.Ala1414=) rs2075511 0.45713
NM_025152.3(NUBPL):c.*1874A>G rs10348 0.45711
NM_017646.6(TRIT1):c.33C>T (p.Pro11=) rs3845570 0.45704
NM_001174147.2(LMX1B):c.441A>G (p.Glu147=) rs2277158 0.45698
NM_006009.4(TUBA1A):c.288A>G (p.Lys96=) rs1056875 0.45696
NM_005751.5(AKAP9):c.4004_4006dup (p.Lys1335_Leu1336insGln) rs10644111 0.45670
NM_006371.5(CRTAP):c.*3485G>A rs1132392 0.45631
NM_012431.3(SEMA3E):c.276+3966C>G rs2255715 0.45623
NM_003119.4(SPG7):c.618+12T>C rs3803679 0.45572
NM_000553.6(WRN):c.2449-42T>C rs2725352 0.45569
NM_001844.5(COL2A1):c.2400T>C (p.Asn800=) rs1635553 0.45566
NM_147127.5(EVC2):c.2095A>G (p.Thr699Ala) rs730469 0.45556
NM_032208.3(ANTXR1):c.1185+16C>A rs6749826 0.45542
NM_006121.4(KRT1):c.1389C>T (p.Arg463=) rs936958 0.45526
NM_033360.4(KRAS):c.*298T>G rs712 0.45514
NM_024596.5(MCPH1):c.2215-19A>G rs2936531 0.45478
NM_182961.4(SYNE1):c.9651+47C>T rs1873176 0.45478
NM_004204.5(PIGQ):c.943-77A>G rs3752568 0.45471
NM_001999.4(FBN2):c.6880+17G>A rs2042327 0.45423
NM_000214.3(JAG1):c.440-173C>T rs2273061 0.45420
NM_004204.5(PIGQ):c.1416+142T>G rs2071982 0.45406
NM_004204.5(PIGQ):c.1416+104C>T rs7192508 0.45399
NM_016495.6(TBC1D7):c.193+47G>A rs2439553 0.45388
NM_000308.3(CTSA):c.-322G>A rs2868362 0.45384
NM_000135.4(FANCA):c.596+143T>G rs11076627 0.45367
NM_004204.5(PIGQ):c.40A>G (p.Thr14Ala) rs2071979 0.45338
NM_000789.4(ACE):c.2306-11A>C rs4342 0.45325
NM_003722.5(TP63):c.-58A>T rs28673064 0.45321
NM_000136.3(FANCC):c.*1288T>C rs4647554 0.45294
NM_014754.3(PTDSS1):c.1073+48T>A rs961075 0.45287
NM_001203.3(BMPR1B):c.*141C>T rs1434536 0.45277
NM_001999.4(FBN2):c.-309A>G rs7732639 0.45240
NM_001399.5(EDA):c.706+11_706+12del rs10579679 0.45223
NM_020247.5(COQ8A):c.1660-9T>C rs7552783 0.45219
NM_033109.5(PNPT1):c.1074-19A>G rs782637 0.45197
NM_020247.5(COQ8A):c.854-81A>G rs2297412 0.45192
NM_015311.3(OBSL1):c.5309-4C>G rs34490902 0.45189
NM_003070.5(SMARCA2):c.4253+40G>C rs3793511 0.45181
NM_005215.4(DCC):c.601C>G (p.Arg201Gly) rs2229080 0.45169
NM_020779.4(WDR35):c.2496A>G (p.Glu832=) rs6741091 0.45165
NM_024426.6(WT1):c.*602A>G rs5030320 0.45163
NM_001942.4(DSG1):c.31A>G (p.Met11Val) rs1426310 0.45128
NM_020461.4(TUBGCP6):c.4129A>G (p.Thr1377Ala) rs11703226 0.45122
NM_004525.3(LRP2):c.10503G>A (p.Gln3501=) rs2229265 0.45093
NM_001813.3(CENPE):c.2025G>A (p.Gln675=) rs2251634 0.45048
NM_000789.4(ACE):c.2306-19G>C rs4341 0.45043
NM_006009.4(TUBA1A):c.453G>C (p.Ser151=) rs697624 0.45037
NM_000352.6(ABCC8):c.4120-27T>C rs739689 0.45032
NM_004204.5(PIGQ):c.-9-1501A>G rs12917944 0.44962
NM_004204.5(PIGQ):c.1532-133G>A rs916415 0.44955
NM_004204.5(PIGQ):c.1532-68G>C rs4984897 0.44949
NM_004204.5(PIGQ):c.1532-50T>A rs916416 0.44947
NM_002381.5(MATN3):c.*176C>T rs7569975 0.44939
NM_002857.4(PEX19):c.*2156C>G rs10594 0.44938
NM_004204.5(PIGQ):c.1532-23T>C rs4006748 0.44936
NM_004204.5(PIGQ):c.1532-15T>C rs62030874 0.44935
NM_004204.5(PIGQ):c.1532-17del rs67976359 0.44933
NM_033109.5(PNPT1):c.361A>G (p.Ile121Val) rs782572 0.44915
NM_133459.4(CCBE1):c.266-30T>C rs632899 0.44900
NM_022168.4(IFIH1):c.2836G>A (p.Ala946Thr) rs1990760 0.44895
NM_001174147.2(LMX1B):c.*2394G>C rs10760451 0.44883
NM_033026.6(PCLO):c.14415+10T>C rs2715150 0.44882
NM_003118.4(SPARC):c.*582G>C rs1054204 0.44854
NM_145861.4(EDARADD):c.161-33G>C rs636048 0.44828
NM_000219.6(KCNE1):c.*124A>G rs2070357 0.44827
NM_001128159.3(VPS53):c.-90C>T rs2474694 0.44823
NM_001174147.2(LMX1B):c.*4171T>C rs3814119 0.44770
NM_004204.5(PIGQ):c.1336-94C>T rs7191939 0.44713
NM_000789.4(ACE):c.1922-288C>T rs4316 0.44701
NM_007118.4(TRIO):c.541-20G>A rs30629 0.44690
NM_020529.3(NFKBIA):c.*126G>A rs696 0.44653
NM_000553.6(WRN):c.2361G>T (p.Leu787=) rs1800392 0.44630
NM_003922.4(HERC1):c.11739C>G (p.Leu3913=) rs2228517 0.44575
NM_001793.6(CDH3):c.160+117G>A rs2236393 0.44521
NM_003922.4(HERC1):c.11433+7T>C rs10519223 0.44503
NM_013432.5(TONSL):c.2496C>T (p.Ala832=) rs2721140 0.44483
NM_001367624.2(ZNF469):c.10972G>C (p.Glu3658Gln) rs1105066 0.44478
NM_003737.4(DCHS1):c.3696G>A (p.Pro1232=) rs2659871 0.44455
NM_004273.5(CHST3):c.*4533C>T rs730720 0.44450
NM_017934.7(PHIP):c.2537+40G>A rs1890229 0.44448
NM_004273.5(CHST3):c.*4107T>C rs731027 0.44435
NM_001202.6(BMP4):c.455T>C (p.Val152Ala) rs17563 0.44424
NM_024426.6(WT1):c.*267G>C rs5030317 0.44381
NM_002386.3(MC1R):c.-490C>T rs3212359 0.44378
NM_000335.5(SCN5A):c.*123A>G rs7429945 0.44373
NM_004560.4(ROR2):c.2088C>T (p.Tyr696=) rs10992063 0.44353
NM_004273.5(CHST3):c.*1278C>T rs4148943 0.44347
NM_000414.4(HSD17B4):c.1261+47A>G rs455949 0.44330
NM_000335.5(SCN5A):c.*963C>T rs4073796 0.44325
NM_001375405.1(CEP120):c.816C>T (p.His272=) rs6876883 0.44294
NM_025152.3(NUBPL):c.*1694G>A rs1129623 0.44285
NM_025152.3(NUBPL):c.*1685A>G rs1129622 0.44269
NM_002474.3(MYH11):c.5439G>A (p.Lys1813=) rs1050162 0.44262
NM_000352.6(ABCC8):c.1686C>T (p.His562=) rs1799857 0.44260
NM_001797.4(CDH11):c.1642+20C>T rs12597529 0.44238
NM_002474.3(MYH11):c.5478G>A (p.Leu1826=) rs1050163 0.44235
NM_001106.4(ACVR2B):c.*2392T>C rs11914389 0.44215
NM_002693.3(POLG):c.3483-19T>G rs2307438 0.44213
NM_016030.6(TRAPPC12):c.2181C>T (p.Phe727=) rs6767 0.44208
NM_002532.6(NUP88):c.2172T>C (p.His724=) rs11209 0.44165
NM_020529.3(NFKBIA):c.*2C>T rs8904 0.44154
NM_001351132.2(PEX5):c.*755C>G rs1057225 0.44145
NM_000264.5(PTCH1):c.2887+21A>G rs2236406 0.44137
NM_001129.5(AEBP1):c.3397A>G (p.Lys1133Glu) rs13928 0.44136
NM_000264.5(PTCH1):c.2560+9G>C rs2066829 0.44128
NM_004387.4(NKX2-5):c.63A>G (p.Glu21=) rs2277923 0.44081
NM_004782.4(SNAP29):c.18A>G (p.Lys6=) rs1061064 0.44050
NM_024596.5(MCPH1):c.2282C>T (p.Ala761Val) rs1057090 0.44044
NM_003119.4(SPG7):c.286+46C>T rs3922633 0.43914
NM_006147.4(IRF6):c.-73T>C rs861019 0.43899
NM_182961.4(SYNE1):c.7029+45T>C rs177330 0.43899
NM_000046.5(ARSB):c.*2022T>G rs7704939 0.43898
NM_018714.3(COG1):c.543A>G (p.Ala181=) rs11544800 0.43890
NM_001005498.4(RHBDF2):c.151-109C>G rs3826287 0.43888
NM_005006.7(NDUFS1):c.1134-32G>T rs4147718 0.43879
NM_017934.7(PHIP):c.4155C>T (p.Val1385=) rs1984195 0.43860
NM_018714.3(COG1):c.333G>A (p.Gln111=) rs1052706 0.43844
NM_003014.4(SFRP4):c.567G>A (p.Thr189=) rs1132552 0.43818
NM_015311.3(OBSL1):c.5300G>A (p.Arg1767Gln) rs59332477 0.43789
NM_000523.4(HOXD13):c.204G>A (p.Ala68=) rs2518053 0.43768
NM_000525.4(KCNJ11):c.*441T>C rs2285676 0.43747
NM_030665.4(RAI1):c.269G>C (p.Gly90Ala) rs3803763 0.43727
NM_001371986.1(UNC80):c.9119-36A>G rs2723222 0.43696
NM_003014.4(SFRP4):c.958C>A (p.Pro320Thr) rs1802073 0.43676
NM_003924.4(PHOX2B):c.*1364G>A rs6826373 0.43664
NM_144628.4(TBC1D20):c.337+88G>T rs2273465 0.43662
NM_000093.5(COL5A1):c.*267C>T rs12722 0.43648
NM_001614.5(ACTG1):c.363+13C>A rs9910792 0.43644
NM_001379210.1(SLC25A26):c.122G>A (p.Ser41Asn) rs146159281 0.43643
NM_001367624.2(ZNF469):c.8604C>T (p.Arg2868=) rs3812953 0.43642
NM_133459.4(CCBE1):c.266-104C>T rs650033 0.43621
NM_021252.5(RAB18):c.*3453G>A rs11015861 0.43562
NM_000368.5(TSC1):c.*1488C>T rs739442 0.43524
NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser) rs2496425 0.43515
NM_017617.5(NOTCH1):c.5094C>T (p.Asp1698=) rs10521 0.43502
NM_020751.3(COG6):c.94T>A (p.Cys32Ser) rs3812883 0.43470
NM_001793.6(CDH3):c.247-38A>G rs1952048 0.43462
NM_005215.4(DCC):c.3130+10A>G rs11873515 0.43448
NM_000141.5(FGFR2):c.*259C>T rs1047057 0.43446
NM_005215.4(DCC):c.3108T>C (p.Pro1036=) rs2229082 0.43424
NM_018055.5(NODAL):c.*722G>C rs2279254 0.43411
NM_025074.7(FRAS1):c.2450C>T (p.Ala817Val) rs6835769 0.43382
NM_001025295.3(IFITM5):c.80G>C (p.Gly27Ala) rs57285449 0.43349
NM_175875.5(SIX5):c.1903C>T (p.Pro635Ser) rs2014576 0.43324
NM_018292.5(QRSL1):c.381-47A>C rs9486434 0.43311
NM_018292.5(QRSL1):c.1425G>A (p.Leu475=) rs2015205 0.43247
NM_001203.3(BMPR1B):c.*2350C>T rs1863654 0.43235
NM_001203.3(BMPR1B):c.*3221T>C rs2162450 0.43224
NM_001203.3(BMPR1B):c.*2776A>G rs1434535 0.43208
NM_145068.4(TRPV3):c.936G>A (p.Thr312=) rs395357 0.43180
NM_001844.5(COL2A1):c.2194-55T>C rs3829737 0.43071
NM_000257.4(MYH7):c.2967T>C (p.Ile989=) rs7157716 0.43030
NM_001005498.4(RHBDF2):c.151-39G>T rs3809694 0.43017
NM_017617.5(NOTCH1):c.2265T>C (p.Asn755=) rs2229971 0.42989
NM_003482.4(KMT2D):c.7479G>T (p.Gly2493=) rs10747559 0.42978
NM_018444.4(PDP1):c.*36T>C rs4735258 0.42976
NM_000214.3(JAG1):c.440-15T>C rs2273060 0.42936
NM_000214.3(JAG1):c.765C>T (p.Tyr255=) rs1131695 0.42930
NM_001042492.3(NF1):c.2034G>A (p.Pro678=) rs2285892 0.42930
NM_133459.4(CCBE1):c.266-63G>T rs663452 0.42927
NM_003738.5(PTCH2):c.2055T>C (p.Ala685=) rs7525308 0.42892
NM_000280.4(PAX6):c.*2160G>A rs12421026 0.42881
NM_001174147.2(LMX1B):c.*3864T>C rs10987419 0.42825
NM_006306.4(SMC1A):c.-19C>T rs1264011 0.42752
NM_001174147.2(LMX1B):c.*3833A>G rs10987418 0.42749
NM_001001433.3(STX16):c.*2057G>A rs7683 0.42733
NM_003738.5(PTCH2):c.1590+22A>G rs2273940 0.42724
NM_024809.5(TCTN2):c.891+7G>A rs7313032 0.42667
NM_002645.4(PIK3C2A):c.3681+46G>A rs2052188 0.42654
NM_007118.4(TRIO):c.4398T>C (p.Asp1466=) rs30774 0.42642
NM_001711.6(BGN):c.540C>T (p.Ser180=) rs1126499 0.42617
NM_024996.7(GFM1):c.81+84C>G rs1864505 0.42613
NM_004370.6(COL12A1):c.5395-29G>A rs1332020 0.42606
NM_001329943.3(KIAA0586):c.4495+3795T>C rs28535751 0.42605
NM_001106.4(ACVR2B):c.811-13T>C rs13097628 0.42596
NM_003482.4(KMT2D):c.10836G>A (p.Gln3612=) rs3782357 0.42594
NM_033116.6(NEK9):c.324C>T (p.His108=) rs8017642 0.42590
NM_019892.6(INPP5E):c.1248T>C (p.Thr416=) rs10781542 0.42574
NM_019892.6(INPP5E):c.1284T>C (p.Gly428=) rs10870194 0.42571
NM_032861.4(SERAC1):c.355+11A>G rs9356399 0.42562
NM_030662.4(MAP2K2):c.660C>A (p.Ile220=) rs10250 0.42547
NM_002645.4(PIK3C2A):c.270T>C (p.Ile90=) rs214936 0.42543
NM_173086.5(KRT6C):c.545G>A (p.Arg182Gln) rs11608915 0.42532
NM_002532.6(NUP88):c.2157A>G (p.Lys719=) rs1071705 0.42492
NM_002532.6(NUP88):c.1292-19G>A rs1806240 0.42485
NM_030665.4(RAI1):c.5601T>C (p.Ile1867=) rs3818717 0.42485
NM_002860.4(ALDH18A1):c.*155G>A rs1053905 0.42481
NM_002860.4(ALDH18A1):c.1606-48T>G rs2296692 0.42481
NM_032043.3(BRIP1):c.-205G>A rs2048718 0.42481
NM_019892.6(INPP5E):c.*703A>G rs1128874 0.42476
NM_002532.6(NUP88):c.1836-38G>T rs748486 0.42467
NM_002860.4(ALDH18A1):c.2207-46G>A rs7099284 0.42467
NM_002532.6(NUP88):c.1389A>T (p.Pro463=) rs14231 0.42466
NM_002532.6(NUP88):c.1916+3C>T rs739768 0.42452
NM_002532.6(NUP88):c.1916+25T>G rs739767 0.42442
NM_001151.4(SLC25A4):c.*2307T>C rs2046535 0.42438
NM_001151.4(SLC25A4):c.*2943G>A rs7675110 0.42427
NM_014141.6(CNTNAP2):c.551-11_551-10insG rs35167289 0.42413
NM_005751.5(AKAP9):c.10426A>C (p.Arg3476=) rs1063243 0.42386
NM_015634.4(KIFBP):c.*422A>C rs6864 0.42385
NM_020771.4(HACE1):c.76+7C>T rs2499655 0.42365
NM_024537.4(CARS2):c.1239T>C (p.Asp413=) rs436462 0.42363
NM_182760.4(SUMF1):c.*10A>G rs35083095 0.42363
NM_001366285.2(TBXT):c.530G>A (p.Gly177Asp) rs2305089 0.42338
NM_001106.4(ACVR2B):c.*7688G>A rs1058945 0.42327
NM_001106.4(ACVR2B):c.*744T>C rs7642472 0.42268
NM_024996.7(GFM1):c.*6C>T rs1047355 0.42265
NM_017909.4(RMND1):c.689+17A>G rs6904364 0.42255
NM_001106.4(ACVR2B):c.1458C>T (p.Asn486=) rs1046048 0.42251
NM_024996.7(GFM1):c.*691T>A rs8650 0.42246
NM_002334.4(LRP4):c.4660A>G (p.Ser1554Gly) rs2306029 0.42236
NM_021926.4(ALX4):c.104G>C (p.Arg35Thr) rs3824915 0.42227
NM_001942.4(DSG1):c.732C>T (p.Gly244=) rs12967407 0.42219
NM_001851.6(COL9A1):c.1720-24A>C rs701690 0.42215
NM_024996.7(GFM1):c.690-87A>G rs9810874 0.42203
NM_001151.4(SLC25A4):c.*1053T>C rs55905558 0.42184
NM_024996.7(GFM1):c.1083+82T>C rs9884039 0.42175
NM_145068.4(TRPV3):c.*902T>G rs7209047 0.42170
NM_014991.6(WDFY3):c.336A>G (p.Leu112=) rs2046402 0.42154
NM_021922.3(FANCE):c.900+39A>G rs13214239 0.42135
NM_002495.4(NDUFS4):c.*46G>A rs567 0.42121
NM_001106.4(ACVR2B):c.*4995C>T rs7433277 0.42110
NM_182760.4(SUMF1):c.*291G>A rs4685744 0.42078
NM_005751.5(AKAP9):c.4149-59C>G rs17164315 0.42068
NM_025074.7(FRAS1):c.11037C>G (p.Pro3679=) rs4975070 0.42060
NM_005751.5(AKAP9):c.8665C>T (p.Leu2889=) rs10228334 0.42044
NM_025074.7(FRAS1):c.11056C>T (p.Leu3686=) rs4975139 0.42041
NM_005751.5(AKAP9):c.3504A>G (p.Glu1168=) rs13245393 0.42036
NM_020247.5(COQ8A):c.1716T>C (p.Ser572=) rs3738725 0.42035
NM_013432.5(TONSL):c.2141C>T (p.Ala714Val) rs7830832 0.42019
NM_016111.4(TELO2):c.2226+38A>G rs11248882 0.42009
NM_001083961.2(WDR62):c.2147-34G>A rs2301736 0.41985
NM_020639.3(RIPK4):c.2331G>A (p.Thr777=) rs7276592 0.41978
NC_000007.14:g.156789346C>T rs10949603 0.41969
NM_020639.3(RIPK4):c.1476G>A (p.Ala492=) rs3746893 0.41949
NM_004260.4(RECQL4):c.801G>C (p.Glu267Asp) rs4244612 0.41942
NM_020639.3(RIPK4):c.1203C>T (p.Gly401=) rs3746894 0.41922
NM_005751.5(AKAP9):c.1389G>T (p.Met463Ile) rs6964587 0.41920
NM_000900.5(MGP):c.304A>G (p.Thr102Ala) rs4236 0.41895
NM_001448.3(GPC4):c.-20C>T rs2073288 0.41879
NM_138959.3(VANGL1):c.*4478C>T rs17034226 0.41876
NM_138959.3(VANGL1):c.*2351T>G rs12121158 0.41872
NM_001113378.2(FANCI):c.3906T>C (p.Gly1302=) rs1138465 0.41848
NM_001048166.1(STIL):c.3486T>C (p.Pro1162=) rs2758735 0.41846
NM_003640.5(ELP1):c.*1351C>A rs4978371 0.41826
NM_000719.7(CACNA1C):c.617+286T>C rs4765682 0.41807
NM_018027.5(FRMD4A):c.207-16T>C rs3740121 0.41756
NM_001174147.2(LMX1B):c.*3771G>T rs10987417 0.41745
NM_003640.5(ELP1):c.3856-54C>A rs2027433 0.41736
NM_000135.4(FANCA):c.1226-20A>G rs1800330 0.41702
NM_000093.5(COL5A1):c.1332+46T>C rs3109675 0.41683
NM_032888.4(COL27A1):c.3570T>C (p.Leu1190=) rs4143245 0.41634
NM_016030.6(TRAPPC12):c.1773G>C (p.Leu591=) rs4971514 0.41612
NM_014754.3(PTDSS1):c.1242+27A>G rs2280263 0.41589
NM_032208.3(ANTXR1):c.379-69T>C rs13030844 0.41577
NM_001193375.3(NDUFA11):c.661A>G (p.Thr221Ala) rs1678868 0.41511
NM_001174147.2(LMX1B):c.726G>C (p.Ser242=) rs13295990 0.41484
NM_001174147.2(LMX1B):c.*3957C>A rs10987422 0.41441
NM_001080414.4(CCDC88C):c.60+8C>A rs3742654 0.41434
NM_138959.3(VANGL1):c.*5751A>G rs10801933 0.41406
NM_005993.5(TBCD):c.3486G>A (p.Ala1162=) rs9390 0.41379
NM_198525.3(KIF7):c.*344T>C rs1054435 0.41372
NM_001166114.2(PNPLA6):c.3699+41C>T rs538850 0.41358
NM_004525.3(LRP2):c.3054C>A (p.Thr1018=) rs2075249 0.41290
NM_023935.3(DDRGK1):c.511-10A>G rs2295552 0.41268
NM_002936.6(RNASEH1):c.498A>G (p.Pro166=) rs10186193 0.41265
NM_020639.3(RIPK4):c.*560A>G rs3746890 0.41259
NM_003119.4(SPG7):c.376+4364C>T rs8052076 0.41223
NM_004260.4(RECQL4):c.3236+13C>T rs4244610 0.41215
NM_001369268.1(ACAN):c.3294C>T (p.Thr1098=) rs62023519 0.41213
NM_019892.6(INPP5E):c.*328T>C rs35763810 0.41134
NM_000414.4(HSD17B4):c.1675A>G (p.Ile559Val) rs11205 0.41131
NM_003321.5(TUFM):c.-55T>C rs7187776 0.41063
NM_016111.4(TELO2):c.2021A>G (p.Gln674Arg) rs2248128 0.41062
NM_017934.7(PHIP):c.2017+48G>A rs11752126 0.41057
NM_004415.4(DSP):c.1904-49T>A rs2076303 0.41041
NM_032888.4(COL27A1):c.4476+18A>G rs1249738 0.40945
NM_004564.3(GATB):c.176+7T>C rs1429559 0.40922
NM_000135.4(FANCA):c.3240-42G>A rs1800345 0.40844
NM_000512.5(GALNS):c.1431G>A (p.Glu477=) rs2303271 0.40780
NM_005751.5(AKAP9):c.6945+8C>T rs733957 0.40759
NM_153717.3(EVC):c.969T>C (p.Asn323=) rs4688963 0.40746
NM_001042492.3(NF1):c.3496+33C>A rs2066736 0.40732
NM_139057.4(ADAMTS17):c.756C>T (p.Ala252=) rs7496640 0.40719
NM_005751.5(AKAP9):c.10608-38G>A rs6946356 0.40717
NM_006567.5(FARS2):c.1217+40158C>T rs4960122 0.40713
NM_139057.4(ADAMTS17):c.617-41A>G rs7497712 0.40701
NM_017617.5(NOTCH1):c.1442-43C>T rs9411254 0.40689
NM_003640.5(ELP1):c.3160+23T>C rs3737309 0.40638
NM_001164508.2(NEB):c.25204A>G (p.Ile8402Val) rs1061305 0.40617
NM_000287.3(PEX6):c.-55C>T rs9462859 0.40581
NM_000287.4(PEX6):c.399G>T (p.Val133=) rs9462858 0.40569
NM_000135.4(FANCA):c.2151+8T>C rs1800340 0.40536
NM_001128159.3(VPS53):c.1867-81C>T rs7219151 0.40515
NM_001113525.2(ZNF276):c.*1323G>A rs1061646 0.40513
NM_005751.5(AKAP9):c.5778C>T (p.Gly1926=) rs10236397 0.40488
NM_000287.4(PEX6):c.2816C>A (p.Pro939Gln) rs1129187 0.40479
NM_005751.5(AKAP9):c.4339-41T>G rs2285333 0.40444
NM_000528.4(MAN2B1):c.910-73A>G rs2303731 0.40412
NM_000685.5(AGTR1):c.573C>T (p.Leu191=) rs5182 0.40342
NM_030777.4(SLC2A10):c.*2176T>C rs1059217 0.40292
NM_030777.4(SLC2A10):c.*2285T>G rs1136540 0.40283
NM_000314.8(PTEN):c.1026+32T>G rs555895 0.40232
NM_182943.3(PLOD2):c.339-22dup rs3842573 0.40215
NM_020639.3(RIPK4):c.*782_*783dup rs34075882 0.40146
NM_138295.5(PKD1L1):c.4961-38C>T rs10280228 0.40134
NM_012062.5(DNM1L):c.1674+36T>A rs4506737 0.40113
NM_001235.5(SERPINH1):c.598C>T (p.Leu200=) rs651581 0.40105
NM_019892.6(INPP5E):c.*816A>G rs8413 0.40078
NM_152558.5(IQCE):c.1970-5T>C rs3735108 0.40054
NM_014762.4(DHCR24):c.*1584T>C rs7374 0.40034
NM_020771.4(HACE1):c.77-4T>C rs9499992 0.40002
NM_014762.4(DHCR24):c.*2295G>C rs7373 0.39999
NM_004618.5(TOP3A):c.391-10C>T rs7207123 0.39970
NM_014141.6(CNTNAP2):c.3381+17A>C rs3779032 0.39925
NM_000203.5(IDUA):c.60G>A (p.Ala20=) rs10902762 0.39819
NM_015450.3(POT1):c.1164-13C>T rs3815221 0.39790
NM_000553.6(WRN):c.3138+6C>T rs3024239 0.39769
NM_138959.3(VANGL1):c.*5368G>A rs10494179 0.39762
NM_138959.3(VANGL1):c.*5995A>T rs4595366 0.39755
NM_138959.3(VANGL1):c.*5841A>T rs4548441 0.39752
NM_000352.6(ABCC8):c.3819G>A (p.Arg1273=) rs1799859 0.39734
NM_000203.5(IDUA):c.24C>A (p.Ala8=) rs11248061 0.39731
NM_001194998.2(CEP152):c.833-4G>A rs58156069 0.39693
NM_000135.4(FANCA):c.1084-29A>G rs6500452 0.39672
NM_024596.5(MCPH1):c.2226C>T (p.Ser742=) rs2912010 0.39666
NM_005751.5(AKAP9):c.8646+49A>T rs114399745 0.39662
NM_004273.5(CHST3):c.*3785G>A rs1871450 0.39651
NM_004273.5(CHST3):c.*3477G>A rs4148950 0.39647
NM_004273.5(CHST3):c.*4785G>A rs12418 0.39638
NM_182476.3(COQ6):c.1216G>A (p.Val406Met) rs8500 0.39628
NM_002408.4(MGAT2):c.-234T>C rs7519 0.39580
NM_004273.5(CHST3):c.*1888T>C rs4148947 0.39562
NM_004278.4(PIGL):c.*20A>G rs15739 0.39527
NM_000071.3(CBS):c.*565C>T rs706209 0.39516
NM_007254.4(PNKP):c.498+23A>T rs1290649 0.39505
NM_003737.4(DCHS1):c.1986+17A>T rs2659869 0.39478
NM_000071.3(CBS):c.*544T>C rs706208 0.39461
NM_152515.5(CKAP2L):c.1841T>C (p.Leu614Ser) rs3811040 0.39395
NM_004393.6(DAG1):c.*250T>C rs1050088 0.39364
NM_001235.5(SERPINH1):c.*125A>G rs9175 0.39341
NM_000093.5(COL5A1):c.787-42C>T rs3124302 0.39339
NM_016030.6(TRAPPC12):c.901A>G (p.Ser301Gly) rs11686212 0.39295
NM_015272.5(RPGRIP1L):c.2959-32G>A rs7203525 0.39281
NM_016938.5(EFEMP2):c.276C>T (p.His92=) rs633800 0.39212
NM_182760.4(SUMF1):c.*214A>G rs2819562 0.39192
NM_000093.5(COL5A1):c.925-49A>G rs3124308 0.39183
NM_139057.4(ADAMTS17):c.*82G>A rs3825894 0.39172
NM_001308093.3(GATA4):c.1150-107A>G rs745379 0.39169
NM_000093.5(COL5A1):c.925-43G>A rs3128598 0.39167
NM_001174147.2(LMX1B):c.*1582A>G rs10987415 0.39164
NM_005751.5(AKAP9):c.8020-45A>G rs2079082 0.39159
NM_005908.4(MANBA):c.757G>A (p.Val253Ile) rs227368 0.39095
NM_000503.6(EYA1):c.639+39T>G rs3779747 0.39091
NM_032656.4(DHX37):c.738+13G>A rs4072887 0.39088
NM_001042545.2(LTBP4):c.3221C>T (p.Thr1074Met) rs10880 0.39072
NM_144508.5(KNL1):c.3432T>C (p.Asn1144=) rs11070285 0.39065
NM_003482.4(KMT2D):c.2826C>T (p.Ile942=) rs2241726 0.39054
NM_139057.4(ADAMTS17):c.647C>T (p.Ser216Leu) rs7496668 0.39054
NM_207361.6(FREM2):c.7398A>G (p.Thr2466=) rs9532292 0.39041
NM_005559.4(LAMA1):c.3573C>T (p.Thr1191=) rs619106 0.39038
NM_144508.5(KNL1):c.1715T>C (p.Met572Thr) rs11858113 0.39038
NM_002860.4(ALDH18A1):c.2206+15G>A rs10882640 0.39029
NM_018718.3(CEP41):c.-5A>C rs2287371 0.39010
NM_001198533.2(OXR1):c.2340G>A (p.Glu780=) rs1681904 0.39000
NM_004544.4(NDUFA10):c.771A>G (p.Gln257=) rs13848 0.38961
NM_144508.5(KNL1):c.2583T>G (p.Thr861=) rs8041534 0.38951
NM_001143985.1(BANF1):c.-221T>G rs14157 0.38941
NM_030777.4(SLC2A10):c.*2365T>A rs1136544 0.38922
NM_144508.5(KNL1):c.2310C>T (p.Val770=) rs11855334 0.38914
NM_001106.4(ACVR2B):c.*5002C>T rs2370840 0.38903
NM_014704.4(CEP104):c.2152-11C>T rs6663840 0.38899
NM_016284.5(CNOT1):c.4006+12A>G rs2241570 0.38899
NM_016284.5(CNOT1):c.4716C>T (p.Tyr1572=) rs11540994 0.38894
NM_016284.5(CNOT1):c.2919G>A (p.Gln973=) rs11866002 0.38888
NM_020159.5(SMARCAD1):c.1479A>G (p.Gln493=) rs2306802 0.38873
NM_002617.4(PEX10):c.776+33G>T rs3795269 0.38841
NM_004782.4(SNAP29):c.*420A>G rs178077 0.38814
NM_000256.3(MYBPC3):c.3288G>A (p.Glu1096=) rs1052373 0.38767
NM_133459.4(CCBE1):c.*4504G>C rs7230906 0.38762
NM_133459.4(CCBE1):c.*2730A>G rs1975499 0.38748
NM_144508.5(KNL1):c.6416-84C>T rs10444817 0.38742
NM_004782.4(SNAP29):c.*2961T>C rs165715 0.38730
NM_144508.5(KNL1):c.6595-27C>T rs2412544 0.38723
NM_004525.3(LRP2):c.4875T>C (p.Cys1625=) rs2229267 0.38704
NM_002488.4(NDUFA2):c.-136A>G rs778594 0.38702
NM_004782.4(SNAP29):c.*1129T>C rs165801 0.38697
NM_002488.4(NDUFA2):c.-48A>G rs778593 0.38666
NM_005002.5(NDUFA9):c.553-17G>A rs2267549 0.38648
NM_001291303.3(FAT4):c.12214-5C>T rs17009761 0.38645
NM_020247.5(COQ8A):c.1573-52G>A rs2297415 0.38619
NM_138295.5(PKD1L1):c.5237+38T>C rs13237611 0.38615
NM_004260.4(RECQL4):c.1258+18G>A rs4251689 0.38613
NM_022114.4(PRDM16):c.439-12109T>C rs6688949 0.38547
NM_025074.7(FRAS1):c.3151+14_3151+15dup rs398092530 0.38519
NM_001369268.1(ACAN):c.7303-110T>G rs16942409 0.38497
NM_194318.4(B3GLCT):c.347+20C>G rs9542307 0.38493
NM_000557.5(GDF5):c.826= (p.Ala276=) rs224331 0.38490
NM_000414.4(HSD17B4):c.317G>A (p.Arg106His) rs25640 0.38375
NM_025074.7(FRAS1):c.7110C>T (p.His2370=) rs7660664 0.38360
NM_030777.4(SLC2A10):c.*1293T>C rs707507 0.38336
NM_001128159.3(VPS53):c.218+102C>G rs2543781 0.38294
NM_133459.4(CCBE1):c.776-164G>A rs11152148 0.38292
NM_032043.3(BRIP1):c.*2090G>C rs60657820 0.38290
NM_020754.4(ARHGAP31):c.1926+89T>A rs12636976 0.38289
NC_000012.12:g.12717002C>A rs36228499 0.38285
NM_001851.6(COL9A1):c.1862A>G (p.Gln621Arg) rs1135056 0.38283
NM_000719.7(CACNA1C):c.917-177G>A rs1541452 0.38280
NM_001448.3(GPC4):c.1173G>T (p.Glu391Asp) rs1129980 0.38279
NM_000262.3(NAGA):c.*1333T>C rs1063392 0.38250
NM_000512.5(GALNS):c.120+1532G>C rs34150867 0.38226
NM_000540.3(RYR1):c.7835+5A>G rs1469695 0.38217
NM_001448.3(GPC4):c.1325C>T (p.Ala442Val) rs1048369 0.38206
NM_018699.4(PRDM5):c.744-38C>T rs2136998 0.38181
NM_015937.6(PIGT):c.1371G>A (p.Thr457=) rs13217 0.38173
NM_000218.3(KCNQ1):c.*875A>G rs8234 0.38150
NM_016955.4(SEPSECS):c.*807A>G rs13109061 0.38145
NM_020247.5(COQ8A):c.1573-20C>G rs2297416 0.38143
NM_182961.4(SYNE1):c.1351-24A>T rs4331993 0.38135
NM_001080508.3(TBX18):c.142G>A (p.Gly48Arg) rs172562 0.38125
NM_014804.3(KIAA0753):c.69C>T (p.Ser23=) rs2301873 0.38122
NM_015386.3(COG4):c.646C>T (p.Leu216=) rs3762171 0.38086
NM_004168.4(SDHA):c.456+91G>C rs12520059 0.38073
NM_020639.3(RIPK4):c.1005G>T (p.Leu335=) rs2277789 0.38050
NM_001128178.3(NPHP1):c.654G>A (p.Glu218=) rs11675767 0.38033
NM_001853.4(COL9A3):c.1288-5T>C rs741758 0.38028
NM_020975.6(RET):c.867+48A>G rs2435352 0.37996
NM_033026.6(PCLO):c.1501T>C (p.Ser501Pro) rs6972461 0.37994
NM_001369268.1(ACAN):c.7613A>G (p.Gln2538Arg) rs1126823 0.37991
NM_020975.6(RET):c.74-126G>T rs2565206 0.37985
NM_002490.6(NDUFA6):c.26C>T (p.Ala9Val) rs1801311 0.37980
NM_004782.4(SNAP29):c.*1519T>C rs165861 0.37966
NM_004453.4(ETFDH):c.606+1791G>A rs12644851 0.37958
NM_015272.5(RPGRIP1L):c.*737T>G rs3760008 0.37956
NM_015272.5(RPGRIP1L):c.*55T>A rs4784319 0.37955
NM_015272.5(RPGRIP1L):c.*1693G>A rs1946155 0.37946
NM_001113378.2(FANCI):c.3006+15A>C rs2159081 0.37877
NM_000136.3(FANCC):c.521+109A>G rs3737142 0.37815
NM_001127671.2(LIFR):c.397+29A>C rs2289779 0.37791
NM_139057.4(ADAMTS17):c.*2560T>C rs10468183 0.37771
NM_152705.3(POLR1D):c.249G>A (p.Pro83=) rs14105 0.37744
NM_001844.5(COL2A1):c.2295C>T (p.Gly765=) rs2276454 0.37692
NM_017791.3(FLVCR2):c.648C>G (p.Ser216=) rs2287017 0.37676
NM_015425.6(POLR1A):c.2634+22T>C rs2289239 0.37666
NM_005862.3(STAG1):c.2457C>T (p.Phe819=) rs9860801 0.37660
NM_017791.3(FLVCR2):c.47T>C (p.Val16Ala) rs2287015 0.37653
NM_000286.3(PEX12):c.*517A>G rs1046321 0.37640
NM_004204.5(PIGQ):c.1532-110C>T rs4262946 0.37630
NM_001365276.2(TNXB):c.6696C>T (p.Asp2232=) rs204883 0.37626
NM_004260.4(RECQL4):c.3393+8C>T rs756627 0.37589
NM_004260.4(RECQL4):c.1621-15C>T rs4244611 0.37577
NM_032208.3(ANTXR1):c.873-76T>A rs11126217 0.37565
NM_000218.3(KCNQ1):c.*932A>G rs10798 0.37559
NM_001130145.3(YAP1):c.1276+42G>C rs3858420 0.37545
NM_001386795.1(DTNA):c.1743+14G>A rs1617318 0.37431
NM_020975.6(RET):c.73+53G>A rs12267460 0.37428
NM_153717.3(EVC):c.1099-19T>C rs899691 0.37351
NM_024596.5(MCPH1):c.2418C>A (p.Ala806=) rs2912016 0.37333
NM_001083962.2(TCF4):c.1941A>G (p.Ser647=) rs8766 0.37317
NM_024915.4(GRHL2):c.*41G>A rs3735713 0.37317
NM_001002755.4(NFU1):c.74T>A (p.Met25Lys) rs4453725 0.37294
NM_024915.4(GRHL2):c.1764-19C>T rs10093032 0.37291
NM_138295.5(PKD1L1):c.3896+38A>G rs62447062 0.37266
NM_001711.6(BGN):c.141G>A (p.Ser47=) rs4833 0.37237
NM_138295.5(PKD1L1):c.3784+44C>G rs4724654 0.37222
NM_001113378.2(FANCI):c.545+19C>T rs1981623 0.37220
NM_138295.5(PKD1L1):c.3784+18T>C rs4724655 0.37208
NM_001113378.2(FANCI):c.545+30G>A rs1981624 0.37206
NM_016111.4(TELO2):c.2415T>C (p.Ala805=) rs3180228 0.37206
NM_030777.4(SLC2A10):c.1547+18T>G rs2425906 0.37194
NM_005529.7(HSPG2):c.7873+25A>C rs2290501 0.37177
NM_001278689.2(EOGT):c.1084-19C>T rs4855541 0.37167
NM_001064.4(TKT):c.748+17C>T rs2242301 0.37137
NM_001378964.1(CDON):c.3294G>A (p.Thr1098=) rs3740904 0.37090
NM_002834.5(PTPN11):c.1600-95C>T rs3741983 0.37076
NM_000057.4(BLM):c.2555+7T>C rs3815003 0.37072
NM_032888.4(COL27A1):c.4846-17G>A rs1546048 0.37018
NM_000860.6(HPGD):c.156G>A (p.Gln52=) rs1050145 0.37000
NM_000900.5(MGP):c.*552A>T rs1049897 0.36985
NM_138295.5(PKD1L1):c.3520+28C>G rs17131896 0.36977
NM_013296.5(GPSM2):c.*211G>A rs1051868 0.36942
NM_000082.4(ERCC8):c.*105T>C rs3117 0.36900
NM_003630.3(PEX3):c.524-19T>C rs22908 0.36866
NM_000136.3(FANCC):c.*1871G>A rs4647558 0.36840
NM_015425.6(POLR1A):c.4273-26A>C rs2278536 0.36818
NM_014140.4(SMARCAL1):c.2528+68T>C rs284523 0.36760
NM_138295.5(PKD1L1):c.3501C>T (p.Tyr1167=) rs62447081 0.36755
NM_000352.6(ABCC8):c.2117-3C>T rs1799854 0.36733
NM_001308093.3(GATA4):c.1001-269G>T rs4841587 0.36715
NM_004273.5(CHST3):c.1070G>A (p.Arg357Gln) rs3740129 0.36709
NM_004260.4(RECQL4):c.3014G>A (p.Arg1005Gln) rs4251691 0.36660
NM_002386.4(MC1R):c.-226A>T rs3212363 0.36642
NM_015311.3(OBSL1):c.1283-18T>A rs2292360 0.36635
NM_001378183.1(PIEZO2):c.7190+29A>G rs11661737 0.36619
NM_024809.5(TCTN2):c.*468C>T rs7398298 0.36606
NM_016343.4(CENPF):c.2890C>T (p.Leu964=) rs3795521 0.36604
NM_018718.3(CEP41):c.*4295G>C rs4728195 0.36596
NM_005236.3(ERCC4):c.1905-35T>C rs1799799 0.36580
NM_020639.3(RIPK4):c.*983G>A rs3171532 0.36576
NM_016343.4(CENPF):c.33G>A (p.Gly11=) rs2070064 0.36558
NM_020159.5(SMARCAD1):c.740G>A (p.Ser247Asn) rs11722476 0.36530
NM_000514.4(GDNF):c.-51A>G rs2973033 0.36519
NM_012463.3(ATP6V0A2):c.-222C>G rs71458814 0.36518
NM_001851.6(COL9A1):c.2259+32T>C rs12191701 0.36512
NM_001077653.2(TBX20):c.545+13A>G rs17675148 0.36511
NM_004260.4(RECQL4):c.3502+24G>A rs2279243 0.36505
NM_012463.4(ATP6V0A2):c.-14C>T rs1139320 0.36505
NM_000093.5(COL5A1):c.2430+20C>T rs3124932 0.36473
NM_000286.3(PEX12):c.*836G>C rs10068 0.36472
NM_001378183.1(PIEZO2):c.6976-47G>C rs868525 0.36451
NM_005869.4(CWC27):c.766C>G (p.Pro256Ala) rs7735338 0.36437
NM_000346.4(SOX9):c.*23A>C rs1042667 0.36428
NM_000352.6(ABCC8):c.4609-40A>G rs1109591 0.36421
NM_004426.3(PHC1):c.2077A>G (p.Thr693Ala) rs1049925 0.36410
NM_003477.2(PDHX):c.-272G>A rs2956111 0.36407
NM_001122681.2(SH3BP2):c.123G>T (p.Leu41=) rs231402 0.36399
NM_000414.4(HSD17B4):c.434+44T>C rs457106 0.36386
NM_001378183.1(PIEZO2):c.7349+7C>T rs3748422 0.36363
NM_000719.7(CACNA1C):c.477+119988G>C rs4765905 0.36354
NM_133259.4(LRPPRC):c.150-233G>T rs4276071 0.36352
NM_022455.5(NSD1):c.1482C>T (p.Cys494=) rs1363405 0.36334
NM_000104.4(CYP1B1):c.142C>G (p.Arg48Gly) rs10012 0.36324
NM_001129.5(AEBP1):c.817C>A (p.Pro273Thr) rs2537188 0.36288
NM_006147.4(IRF6):c.*843T>G rs599021 0.36277
NM_024996.7(GFM1):c.1083+57C>T rs62286656 0.36155
NM_001367624.2(ZNF469):c.7156G>C (p.Gly2386Arg) rs12598474 0.36151
NM_024809.5(TCTN2):c.1393+7C>T rs7298440 0.36136
NM_006371.5(CRTAP):c.1044G>A (p.Ser348=) rs1135128 0.36102
NM_000044.6(AR):c.1616+21621G>A rs1204038 0.36101
NM_020812.4(DOCK6):c.5361+4C>T rs3745682 0.36094
NM_016343.4(CENPF):c.7186A>G (p.Asn2396Asp) rs3748697 0.36093
NM_000287.4(PEX6):c.883-3T>C rs9986447 0.36088
NM_006371.5(CRTAP):c.1032T>G (p.Thr344=) rs1135127 0.36088
NM_007059.4(KPTN):c.906C>T (p.Pro302=) rs2293424 0.36088
NM_001235.5(SERPINH1):c.693C>T (p.Thr231=) rs649257 0.36061
NM_004260.4(RECQL4):c.738C>T (p.Ser246=) rs4244613 0.36043
NM_032656.4(DHX37):c.288G>A (p.Met96Ile) rs11558556 0.36027
NM_004064.5(CDKN1B):c.326T>G (p.Val109Gly) rs2066827 0.36014
NM_001235.5(SERPINH1):c.1011G>A (p.Leu337=) rs585821 0.35953
NM_001365951.3(KIF1B):c.*3911A>G rs1138791 0.35950
NM_194318.4(B3GLCT):c.347+4C>T rs9564692 0.35942
NM_006147.4(IRF6):c.459G>T (p.Ser153=) rs2013162 0.35925
NM_176787.5(PIGN):c.1116+26G>A rs2298779 0.35890
NM_000089.4(COL1A2):c.1446A>C (p.Pro482=) rs412777 0.35874
NM_004826.4(ECEL1):c.1507-30G>C rs6750085 0.35871
NM_002203.4(ITGA2):c.*3986A>C rs7725246 0.35845
NM_001711.6(BGN):c.771-32C>T rs2073479 0.35838
NM_000789.4(ACE):c.1215C>T (p.Pro405=) rs4309 0.35804
NM_020812.4(DOCK6):c.3894+19G>A rs4804150 0.35804
NM_001365999.1(SZT2):c.2037+48G>A rs2782645 0.35801
NM_024996.7(GFM1):c.81+22A>G rs1864506 0.35797
NM_032888.4(COL27A1):c.4584+52C>T rs7855288 0.35795
NM_001497.4(B4GALT1):c.648+102C>T rs913214 0.35792
NM_001235.5(SERPINH1):c.363C>G (p.Ser121=) rs650241 0.35781
NM_014141.6(CNTNAP2):c.*1557A>C rs3194 0.35771
NM_033337.3(CAV3):c.99C>T (p.Asn33=) rs1008642 0.35756
NM_030665.4(RAI1):c.493C>A (p.Pro165Thr) rs11649804 0.35747
NM_030665.4(RAI1):c.840del (p.Gln280fs) rs34083643 0.35741
NM_000428.3(LTBP2):c.2406T>C (p.Thr802=) rs699374 0.35704
NM_207361.6(FREM2):c.*342G>A rs9603463 0.35702
NM_012293.3(PXDN):c.200+35C>T rs62116430 0.35690
NM_015311.3(OBSL1):c.580C>T (p.Leu194=) rs1061399 0.35689
NM_001081550.2(THOC2):c.3058-9C>T rs2072914 0.35686
NM_004629.2(FANCG):c.1636+7A>G rs587118 0.35683
NM_001166114.2(PNPLA6):c.2818-19A>G rs563826 0.35658
NM_005869.4(CWC27):c.-31G>A rs1363953 0.35647
NM_003640.5(ELP1):c.-301C>G rs2275641 0.35638
NM_001166114.2(PNPLA6):c.2635-19A>C rs539887 0.35604
NM_032888.4(COL27A1):c.4873-65C>T rs10817590 0.35425
NM_018055.5(NODAL):c.193+12C>T rs10999338 0.35409
NM_004525.3(LRP2):c.4294+19C>T rs830973 0.35398
NM_012431.3(SEMA3E):c.1272G>A (p.Leu424=) rs2722974 0.35335
NM_000046.5(ARSB):c.1143-27A>C rs25415 0.35324
NM_198859.4(PRICKLE2):c.259-6A>G rs2306380 0.35289
NM_005869.4(CWC27):c.749+16G>T rs6449760 0.35252
NM_018993.4(RIN2):c.1818C>T (p.His606=) rs2076584 0.35224
NM_000104.4(CYP1B1):c.355G>T (p.Ala119Ser) rs1056827 0.35167
NM_021830.5(TWNK):c.-605G>T rs3740484 0.35155
NM_139284.3(LGI4):c.1203A>G (p.Thr401=) rs1319969 0.35140
NM_003737.4(DCHS1):c.1902C>T (p.His634=) rs997263 0.35112
NM_001018115.3(FANCD2):c.4281+172G>A rs7626117 0.35108
NM_012205.3(HAAO):c.440+19C>T rs2241850 0.35102
NM_001394062.1(MACF1):c.19225G>A (p.Ala6409Thr) rs587404 0.35088
NM_000168.6(GLI3):c.*428C>T rs2051935 0.35079
NM_015631.6(TCTN3):c.603T>A (p.Thr201=) rs10786229 0.35079
NM_000503.6(EYA1):c.1755T>C (p.His585=) rs10103397 0.35033
NM_130837.3(OPA1):c.*2344A>G rs1056392 0.35025
NM_002203.4(ITGA2):c.*2940G>A rs6898333 0.34995
NM_000751.3(CHRND):c.*885T>C rs1004175 0.34980
NM_000428.3(LTBP2):c.*824C>T rs7569 0.34968
NM_000503.6(EYA1):c.1699-23A>G rs10090382 0.34966
NM_023110.3(FGFR1):c.-636C>T rs3213849 0.34931
NM_022166.4(XYLT1):c.2028-37A>C rs3812961 0.34884
NM_005006.7(NDUFS1):c.1251A>G (p.Arg417=) rs1801318 0.34874
NM_003738.5(PTCH2):c.265+13C>T rs3795720 0.34867
NM_024426.6(WT1):c.1448-49T>C rs1799937 0.34839
NM_005554.4(KRT6A):c.495A>G (p.Glu165=) rs376545 0.34829
NM_000093.5(COL5A1):c.738C>T (p.Thr246=) rs3124299 0.34823
NM_003321.5(TUFM):c.817+13T>C rs4788099 0.34806
NM_003321.5(TUFM):c.922+29C>G rs61737565 0.34806
NM_003321.5(TUFM):c.*300T>G rs3088215 0.34801
NM_017777.4(MKS1):c.261+67A>G rs7225148 0.34782
NM_001379081.2(FREM1):c.5004C>A (p.Ile1668=) rs17219005 0.34768
NM_004453.4(ETFDH):c.973-104A>C rs7679753 0.34747
NM_001367561.1(DOCK7):c.5062T>C (p.Leu1688=) rs10889335 0.34717
NM_004273.5(CHST3):c.*1361C>T rs4148945 0.34681
NM_001378964.1(CDON):c.2037G>A (p.Ala679=) rs516664 0.34680
NM_001164508.2(NEB):c.7839G>C (p.Lys2613Asn) rs13013209 0.34676
NM_005343.4(HRAS):c.81T>C (p.His27=) rs12628 0.34645
NM_016284.5(CNOT1):c.909A>G (p.Gly303=) rs17854029 0.34638
NM_016035.5(COQ4):c.533-17A>C rs7850697 0.34637
NM_003640.5(ELP1):c.3572+99G>A rs2275496 0.34623
NM_014314.4(RIGI):c.2400A>C (p.Val800=) rs3205166 0.34612
NM_014865.4(NCAPD2):c.3573-13C>T rs7316224 0.34606
NM_000540.3(RYR1):c.7926+28A>G rs1469699 0.34603
NM_000528.4(MAN2B1):c.1010G>A (p.Arg337Gln) rs1133330 0.34583
NM_001159773.2(CANT1):c.159T>C (p.Ala53=) rs8077024 0.34524
NM_001957.4(EDNRA):c.1005G>A (p.Glu335=) rs5334 0.34511
NM_015338.6(ASXL1):c.140+26A>G rs2295454 0.34485
NM_001957.4(EDNRA):c.969T>C (p.His323=) rs5333 0.34483
NM_017636.4(TRPM4):c.2019+25C>G rs1175791 0.34480
NM_014865.4(NCAPD2):c.127+27C>T rs6489718 0.34476
NM_139284.3(LGI4):c.*11G>A rs11084800 0.34468
NM_015338.6(ASXL1):c.3759T>C (p.Ser1253=) rs4911231 0.34448
NM_001308093.3(GATA4):c.*1256A>T rs12458 0.34439
NM_014865.4(NCAPD2):c.3483C>T (p.Asn1161=) rs740850 0.34433
NM_012431.3(SEMA3E):c.337-38T>C rs7806439 0.34425
NM_017934.7(PHIP):c.4228C>T (p.Leu1410=) rs2275290 0.34422
NM_000046.5(ARSB):c.1072G>A (p.Val358Met) rs1065757 0.34419
NM_003477.2(PDHX):c.-390G>A rs2956114 0.34353
NM_003737.4(DCHS1):c.6365-11A>G rs11827437 0.34333
NM_000719.7(CACNA1C):c.3946-298G>A rs216044 0.34322
NM_000308.4(CTSA):c.1359+35G>A rs7270170 0.34309
NM_139284.3(LGI4):c.1395G>A (p.Gln465=) rs12610234 0.34308
NM_139284.3(LGI4):c.1396C>T (p.Leu466=) rs12610146 0.34294
NM_139284.3(LGI4):c.834G>C (p.Pro278=) rs1687998 0.34261
NM_001379200.1(TBX1):c.691C>T (p.Leu231=) rs2301558 0.34251
NM_001291303.3(FAT4):c.12822+28T>G rs11098815 0.34175
NM_003384.3(VRK1):c.217-244T>C rs12586511 0.34167
NM_001101.5(ACTB):c.984+39G>A rs852424 0.34158
NM_015294.6(TRIM37):c.*634A>T rs28475409 0.34158
NM_015443.4(KANSL1):c.3029C>T (p.Pro1010Leu) rs7220988 0.34127
NM_024407.5(NDUFS7):c.455+71G>A rs2074897 0.34114
NM_000162.5(GCK):c.1253+8C>T rs2908274 0.34109
NM_000751.3(CHRND):c.*52A>G rs2767 0.34088
NM_014141.6(CNTNAP2):c.*4934C>T rs2530310 0.34059
NM_001128159.3(VPS53):c.1524C>T (p.Tyr508=) rs2075443 0.33961
NM_170606.3(KMT2C):c.8685G>A (p.Gln2895=) rs6464211 0.33944
NM_015295.3(SMCHD1):c.3425+37C>T rs8094260 0.33927
NM_005529.7(HSPG2):c.9852T>C (p.Ala3284=) rs2291826 0.33918
NM_152558.5(IQCE):c.1786A>G (p.Thr596Ala) rs2293407 0.33901
NM_014244.5(ADAMTS2):c.534+9G>C rs2271213 0.33886
NM_001005498.4(RHBDF2):c.*698C>G rs8150 0.33822
NM_005751.5(AKAP9):c.8375A>G (p.Asn2792Ser) rs6960867 0.33817
NM_001164405.2(BHLHA9):c.237A>G (p.Leu79=) rs3951819 0.33804
NM_005751.5(AKAP9):c.9145C>T (p.Leu3049=) rs28927678 0.33792
NM_001101.5(ACTB):c.-6-33C>T rs2908425 0.33780
NM_014141.6(CNTNAP2):c.*1187G>A rs2530312 0.33729
NM_005996.4(TBX3):c.*423G>C rs3741698 0.33707
NM_001085458.2(CTNND1):c.483C>T (p.Asp161=) rs10896644 0.33696
NM_014321.4(ORC6):c.-20T>C rs33994299 0.33690
NM_001354604.2(MITF):c.*2068C>T rs576 0.33688
NM_033026.6(PCLO):c.14440T>G (p.Ser4814Ala) rs2522833 0.33644
NM_032208.3(ANTXR1):c.802+46A>G rs6710260 0.33620
NM_000169.3(GLA):c.1000-22C>T rs2071228 0.33579
NM_152558.5(IQCE):c.1637C>T (p.Ala546Val) rs2293404 0.33567
NM_000540.3(RYR1):c.8190T>C (p.Asp2730=) rs2915951 0.33482
NM_032043.3(BRIP1):c.*3488A>T rs11079454 0.33474
NM_153717.3(EVC):c.939+4C>T rs2286343 0.33466
NM_014991.6(WDFY3):c.9204+47T>C rs3747680 0.33461
NM_032888.4(COL27A1):c.3610-121A>G rs10513241 0.33460
NM_000719.7(CACNA1C):c.1114-679A>G rs11608740 0.33415
NM_013296.5(GPSM2):c.1815+22G>A rs705268 0.33412
NM_004239.4(TRIP11):c.*430A>G rs12587248 0.33383
NM_002386.3(MC1R):c.-445G>A rs3212361 0.33371
NM_001982.4(ERBB3):c.3129+9A>C rs2292238 0.33347
NM_024596.5(MCPH1):c.23-26G>A rs1550697 0.33312
NM_004525.3(LRP2):c.248A>G (p.Asn83Ser) rs2229263 0.33289
NM_033004.4(NLRP1):c.464T>A (p.Leu155His) rs12150220 0.33261
NM_015338.6(ASXL1):c.*22A>G rs2295764 0.33221
NM_000512.5(GALNS):c.*367T>C rs1141390 0.33207
NM_032888.4(COL27A1):c.1831A>T (p.Ile611Phe) rs2567705 0.33152
NM_175875.5(SIX5):c.2077G>A (p.Val693Met) rs2341097 0.33126
NM_006031.6(PCNT):c.8996+45C>A rs2236616 0.33111
NM_000540.3(RYR1):c.7977G>A (p.Thr2659=) rs2229144 0.33092
NM_194292.3(SASS6):c.776C>T (p.Ala259Val) rs13375867 0.33090
NM_000540.3(RYR1):c.8118T>C (p.Ile2706=) rs2960340 0.33086
NM_022167.4(XYLT2):c.2402C>G (p.Thr801Arg) rs6504649 0.33080
NM_025132.4(WDR19):c.3183+16A>G rs11096987 0.33074
NM_014244.5(ADAMTS2):c.321T>C (p.Ser107=) rs2271212 0.33047
NM_005026.5(PIK3CD):c.2348-30C>T rs11589267 0.33011
NM_018475.5(TMEM165):c.899-15T>C rs7660517 0.33010
NM_020806.5(GPHN):c.65-9T>C rs3759753 0.33000
NM_138295.5(PKD1L1):c.3813C>T (p.Gly1271=) rs73105162 0.32993
NM_138295.5(PKD1L1):c.3785-7C>T rs17131867 0.32980
NM_145068.4(TRPV3):c.*3051A>G rs2271158 0.32973
NM_014244.5(ADAMTS2):c.733G>A (p.Val245Ile) rs398829 0.32945
NM_021926.4(ALX4):c.304C>T (p.Pro102Ser) rs12421995 0.32933
NM_032888.4(COL27A1):c.2745C>T (p.Ile915=) rs2014134 0.32914
NM_014704.4(CEP104):c.1240T>A (p.Leu414Ile) rs2275824 0.32901
NM_145068.4(TRPV3):c.*1533A>C rs1507614 0.32876
NM_002485.5(NBN):c.2071-30A>T rs3736639 0.32860
NM_002693.3(POLG):c.3105-11T>C rs2302084 0.32855
NM_001365951.3(KIF1B):c.*2247G>A rs1002076 0.32846
NM_001931.5(DLAT):c.128C>T (p.Ala43Val) rs2303436 0.32827
NM_002485.5(NBN):c.2184+123G>A rs7840099 0.32815
NM_001854.4(COL11A1):c.2656-28T>C rs1903787 0.32791
NM_018946.4(NANS):c.102C>T (p.Asp34=) rs3739670 0.32781
NM_001367624.2(ZNF469):c.8093T>A (p.Leu2698Gln) rs3812956 0.32763
NM_002485.5(NBN):c.102G>A (p.Leu34=) rs1063045 0.32752
NM_000302.4(PLOD1):c.1206C>T (p.Asn402=) rs1130529 0.32745
NM_002485.5(NBN):c.1915-7A>G rs2308962 0.32733
NM_003384.3(VRK1):c.705C>T (p.Gly235=) rs2230532 0.32707
NM_000093.5(COL5A1):c.4230+118C>T rs7847840 0.32683
NM_001235.5(SERPINH1):c.*525C>A rs6704 0.32671
NM_000314.8(PTEN):c.*1516T>C rs701848 0.32619
NM_015295.3(SMCHD1):c.1843-17T>A rs8090988 0.32584
NM_025074.7(FRAS1):c.8439C>T (p.Asp2813=) rs11098194 0.32564
NM_000540.3(RYR1):c.8589T>C (p.Ser2863=) rs2229146 0.32548
NM_000900.5(MGP):c.-63G>A rs1800801 0.32542
NM_001365999.1(SZT2):c.8626-3T>C rs2255632 0.32528
NM_025074.7(FRAS1):c.7011G>A (p.Ala2337=) rs6851427 0.32517
NM_032888.4(COL27A1):c.3718-19G>T rs2636879 0.32501
NM_032888.4(COL27A1):c.63-214A>G rs1431821 0.32486
NM_002485.5(NBN):c.994+233G>A rs6990969 0.32471
NM_003384.3(VRK1):c.45A>G (p.Ala15=) rs2145635 0.32398
NM_000540.3(RYR1):c.9186A>G (p.Pro3062=) rs2071089 0.32394
NM_001378964.1(CDON):c.3165T>C (p.Asn1055=) rs564214 0.32369
NM_018127.7(ELAC2):c.1305-8T>C rs3760316 0.32355
NM_001025389.2(AMPD3):c.1689T>C (p.Tyr563=) rs3741041 0.32346
NM_003394.4(WNT10B):c.1059C>T (p.His353=) rs1051886 0.32338
NM_181741.4(ORC4):c.233A>G (p.Asn78Ser) rs2307394 0.32301
NM_006031.6(PCNT):c.721-7G>A rs2839217 0.32249
NM_003072.5(SMARCA4):c.1524T>C (p.His508=) rs7935 0.32239
NM_181503.3(EXOSC8):c.321G>A (p.Gln107=) rs1127446 0.32239
NM_001166114.2(PNPLA6):c.1253-6C>T rs574930 0.32237
NM_020320.5(RARS2):c.451+140G>A rs34513746 0.32228
NM_014804.3(KIAA0753):c.1125A>T (p.Glu375Asp) rs9889363 0.32226
NM_000540.3(RYR1):c.8816+17T>A rs2915959 0.32203
NM_000020.3(ACVRL1):c.1378-248T>G rs2656315 0.32172
NM_001931.5(DLAT):c.1351G>A (p.Asp451Asn) rs10891314 0.32172
NM_145068.4(TRPV3):c.349A>G (p.Arg117Gly) rs322937 0.32171
NM_000540.3(RYR1):c.8693-10G>C rs2915958 0.32159
NM_000540.3(RYR1):c.8337G>A (p.Glu2779=) rs2915952 0.32150
NM_000540.3(RYR1):c.8400+28A>G rs2915953 0.32146
NM_000540.3(RYR1):c.8816+43A>C rs2960346 0.32141
NM_001793.6(CDH3):c.1689G>C (p.Gln563His) rs1126933 0.32131
NM_022095.4(ZNF335):c.642C>T (p.Ser214=) rs3848719 0.32130
NM_006147.4(IRF6):c.175-5C>G rs7552506 0.32118
NM_198239.2(CCN6):c.168G>T (p.Gln56His) rs1230345 0.32081
NM_145020.5(CFAP53):c.778-12A>T rs920791 0.32055
NM_000202.8(IDS):c.438C>T (p.Thr146=) rs1141608 0.32051
NM_006031.6(PCNT):c.4197C>T (p.Asp1399=) rs3737438 0.32038
NM_002693.3(POLG):c.3105-36A>G rs2246900 0.31986
NM_173086.5(KRT6C):c.1503C>T (p.Ser501=) rs410562 0.31967
NM_001113378.2(FANCI):c.257C>T (p.Ala86Val) rs17803620 0.31885
NM_025074.7(FRAS1):c.1396T>A (p.Leu466Ile) rs12504081 0.31848
NM_022114.4(PRDM16):c.3284+15G>T rs870171 0.31838
NM_139284.3(LGI4):c.459-33G>A rs1688001 0.31837
NM_006346.4(PIBF1):c.499A>G (p.Ile167Val) rs1372000 0.31812
NM_025074.7(FRAS1):c.9808A>C (p.Arg3270=) rs3749488 0.31772
NM_000020.3(ACVRL1):c.1378-405A>G rs813471 0.31751
NM_000093.5(COL5A1):c.4176+9T>G rs10858282 0.31743
NM_007118.4(TRIO):c.4311+44G>A rs256412 0.31735
NM_000428.3(LTBP2):c.1987+21G>A rs862025 0.31731
NM_152281.3(GORAB):c.*1064T>A rs6427262 0.31699
NM_000124.4(ERCC6):c.*379C>G rs4253234 0.31692
NM_024426.6(WT1):c.213G>T (p.Pro71=) rs2234582 0.31689
NM_001365999.1(SZT2):c.6034+11A>C rs2039531 0.31639
NM_002485.5(NBN):c.*1209A>C rs1063054 0.31611
NM_000540.3(RYR1):c.8541+37T>G rs2960343 0.31600
NM_032888.4(COL27A1):c.4061G>A (p.Arg1354Gln) rs10982134 0.31600
NM_000124.4(ERCC6):c.2751C>T (p.Gly917=) rs2229760 0.31596
NM_000540.3(RYR1):c.8617-35C>T rs2960344 0.31588
NM_002485.5(NBN):c.*1754T>C rs9995 0.31588
NM_001759.4(CCND2):c.570C>G (p.Thr190=) rs3217805 0.31575
NM_001365999.1(SZT2):c.1336C>T (p.Pro446Ser) rs2782643 0.31563
NM_000020.3(ACVRL1):c.1377+45T>C rs706815 0.31560
NM_000020.3(ACVRL1):c.1377+65A>G rs706816 0.31557
NM_003051.4(SLC16A1):c.*1942T>C rs9429505 0.31556
NM_000540.3(RYR1):c.8692+28T>G rs2960345 0.31541
NM_001378964.1(CDON):c.3039C>T (p.Asn1013=) rs684805 0.31531
NM_003383.5(VLDLR):c.-56C>T rs34881325 0.31505
NM_005554.4(KRT6A):c.1424+18A>C rs12581781 0.31486
NM_005853.6(IRX5):c.763C>A (p.Pro255Thr) rs13336114 0.31480
NM_080680.3(COL11A2):c.877-4T>A rs1799907 0.31476
NM_000168.6(GLI3):c.2993C>T (p.Pro998Leu) rs929387 0.31467
NM_000108.5(DLD):c.*18A>T rs8721 0.31455
NM_145861.4(EDARADD):c.*1562T>C rs7513402 0.31448
NM_000020.3(ACVRL1):c.*560T>C rs706818 0.31441
NM_000108.5(DLD):c.438+83G>A rs17412104 0.31437
NM_001372066.1(TFAP2A):c.1032-44T>A rs303048 0.31435
NM_020779.4(WDR35):c.2915A>G (p.Glu972Gly) rs1191778 0.31383
NM_003383.5(VLDLR):c.82+7G>A rs2219143 0.31376
NM_020461.4(TUBGCP6):c.24C>T (p.Phe8=) rs5771270 0.31375
NM_052845.4(MMAB):c.57C>A (p.Arg19=) rs10774774 0.31358
NM_006939.4(SOS2):c.88-6T>C rs12888783 0.31349
NM_052845.4(MMAB):c.56G>A (p.Arg19His) rs10774775 0.31347
NM_153603.4(COG7):c.*187A>G rs250588 0.31336
NM_001164508.2(NEB):c.8734T>C (p.Ser2912Pro) rs6713162 0.31314
NM_020436.5(SALL4):c.1860A>G (p.Thr620=) rs6021437 0.31314
NM_152558.5(IQCE):c.774+8G>A rs13242369 0.31266
NM_176787.5(PIGN):c.1023+18A>G rs12608212 0.31260
NM_016589.4(TIMMDC1):c.597-35G>T rs4461452 0.31250
NM_001010867.4(IBA57):c.134G>C (p.Gly45Ala) rs55873785 0.31221
NM_032888.4(COL27A1):c.4872+17C>G rs10817586 0.31217
NM_001321120.2(TBX4):c.402-8G>A rs758596 0.31194
NM_000108.5(DLD):c.*1688G>A rs8440 0.31157
NM_000199.5(SGSH):c.664-36T>C rs35087113 0.31148
NM_006031.6(PCNT):c.4915A>G (p.Ile1639Val) rs6518291 0.31129
NM_145068.4(TRPV3):c.224+27T>C rs9911213 0.31129
NM_138959.3(VANGL1):c.*3496T>A rs4839472 0.31126
NM_002485.5(NBN):c.*541G>C rs2735383 0.31125
NM_001365999.1(SZT2):c.7356A>G (p.Glu2452=) rs2027130 0.31124
NM_181523.3(PIK3R1):c.334+14A>C rs706714 0.31124
NM_004618.5(TOP3A):c.2022-39C>A rs6502644 0.31103
NM_181523.3(PIK3R1):c.219C>T (p.Tyr73=) rs706713 0.31073
NM_000540.3(RYR1):c.8541+34C>T rs2960342 0.31072
NM_020247.5(COQ8A):c.*464G>A rs8159 0.31059
NM_001278689.2(EOGT):c.465A>G (p.Arg155=) rs6781612 0.31041
NM_000199.5(SGSH):c.1367G>A (p.Arg456His) rs7503034 0.31021
NM_001797.4(CDH11):c.945G>A (p.Ser315=) rs28216 0.31019
NM_024809.5(TCTN2):c.*155G>A rs12811354 0.31018
NM_002203.4(ITGA2):c.*2999A>G rs6880055 0.31005
NM_025074.7(FRAS1):c.5366+13T>G rs2170899 0.31001
NM_024312.5(GNPTAB):c.3336-25T>C rs3736476 0.30966
NM_000071.3(CBS):c.1080C>T (p.Ala360=) rs1801181 0.30942
NM_014920.5(CILK1):c.975A>G (p.Pro325=) rs2297211 0.30926
NM_003737.4(DCHS1):c.5846C>T (p.Thr1949Met) rs4758443 0.30888
NM_002472.3(MYH8):c.-31G>A rs2277648 0.30852
NM_001106.4(ACVR2B):c.*9319T>A rs77317995 0.30846
NM_001370259.2(MEN1):c.1254C>T (p.Asp418=) rs2071313 0.30843
NM_000503.6(EYA1):c.1476-21G>T rs3735935 0.30839
NM_007294.4(BRCA1):c.2082C>T (p.Ser694=) rs1799949 0.30810
NM_000528.4(MAN2B1):c.832C>G (p.Leu278Val) rs1054486 0.30800
NM_001982.4(ERBB3):c.3348G>A (p.Arg1116=) rs2271189 0.30797
NM_004333.6(BRAF):c.1929A>G (p.Gly643=) rs9648696 0.30796
NM_006294.5(UQCRB):c.258+282C>T rs2292835 0.30786
NM_007294.4(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942 0.30784
NM_001614.5(ACTG1):c.930C>T (p.Ala310=) rs1135989 0.30776
NM_002148.4(HOXD10):c.*495A>T rs13403839 0.30776
NM_139057.4(ADAMTS17):c.2591+6A>G rs8028251 0.30715
NM_173086.5(KRT6C):c.180T>C (p.Ser60=) rs556681459 0.30700
NM_001127671.2(LIFR):c.*1470T>G rs13156520 0.30679
NM_001127671.2(LIFR):c.*5670A>G rs3822425 0.30662
NM_014244.5(ADAMTS2):c.*2396C>T rs3797615 0.30656
NM_001127671.2(LIFR):c.*6190C>T rs1046224 0.30641
NM_001018115.3(FANCD2):c.4281+685C>T rs11716842 0.30572
NM_020223.4(FAM20C):c.885A>G (p.Thr295=) rs141256626 0.30568
NM_016653.3(MAP3K20):c.445-37A>G rs2289399 0.30550
NM_182476.3(COQ6):c.570T>C (p.His190=) rs3180946 0.30516
NM_139057.4(ADAMTS17):c.789+8C>T rs7496614 0.30495
NM_003184.4(TAF2):c.2250G>A (p.Gln750=) rs7002501 0.30473
NM_001378183.1(PIEZO2):c.4135G>A (p.Val1379Ile) rs7234309 0.30463
NM_001360.3(DHCR7):c.626+15G>A rs736894 0.30458
NM_004544.4(NDUFA10):c.*1189C>T rs66534347 0.30437
NM_017565.4(FAM20A):c.996C>A (p.Asn332Lys) rs2302234 0.30437
NM_018136.5(ASPM):c.7939C>A (p.Leu2647Ile) rs3762271 0.30411
NM_024339.5(THOC6):c.40-8C>T rs2717664 0.30406
NM_018136.5(ASPM):c.4449A>G (p.Lys1483=) rs2878749 0.30404
NM_006859.4(LIAS):c.884-14T>A rs2125314 0.30396
NM_005215.4(DCC):c.2053+13A>G rs1431196 0.30394
NM_020754.4(ARHGAP31):c.1070-92G>C rs10511390 0.30391
NM_058216.3(RAD51C):c.904+34T>C rs28363318 0.30375
NM_001135146.2(SLC39A8):c.552+48C>T rs1462947 0.30373
NM_001164508.2(NEB):c.5370G>A (p.Glu1790=) rs10170273 0.30371
NM_000501.4(ELN):c.*501_*502insA rs34208922 0.30369
NM_001127671.2(LIFR):c.*3834C>G rs34130318 0.30347
NM_024596.5(MCPH1):c.*181C>G rs2433149 0.30338
NM_002485.5(NBN):c.553G>C (p.Glu185Gln) rs1805794 0.30329
NM_002485.5(NBN):c.*273G>A rs1063053 0.30308
NM_018136.5(ASPM):c.7684A>G (p.Ser2562Gly) rs41310927 0.30288
NM_015261.3(NCAPD3):c.1525+18T>A rs2305379 0.30281
NM_001148.6(ANK2):c.11673T>C (p.His3891=) rs2293324 0.30277
NM_004525.3(LRP2):c.639C>T (p.Asp213=) rs2229266 0.30270
NM_005554.4(KRT6A):c.819T>C (p.Asp273=) rs12578949 0.30252
NM_018136.5(ASPM):c.5961A>G (p.Gln1987=) rs41310925 0.30222
NM_001102401.4(TTI2):c.-99-31C>T rs34226219 0.30214
NM_001399.5(EDA):c.742-11C>T rs2296765 0.30200
NM_014140.4(SMARCAL1):c.2071-136T>C rs2129119 0.30191
NM_004393.6(DAG1):c.2256C>T (p.His752=) rs1801143 0.30176
NM_000860.5(HPGD):c.-404G>C rs1346271 0.30150
NM_001127671.2(LIFR):c.561+216A>G rs1822815 0.30148
NM_012186.3(FOXE3):c.510C>T (p.Ala170=) rs34082359 0.30139
NM_025074.7(FRAS1):c.604-132G>A rs6856362 0.30120
NM_001128159.3(VPS53):c.1117-91C>G rs7225041 0.30116
NM_145020.5(CFAP53):c.474-18T>C rs35295154 0.30115
NM_020223.4(FAM20C):c.1363+10G>A rs36156504 0.30098
NM_002485.5(NBN):c.1124+18C>T rs2234744 0.30095
NM_002485.5(NBN):c.2016A>G (p.Pro672=) rs1061302 0.30090
NM_000046.5(ARSB):c.313-26T>C rs3733895 0.30072
NM_015341.5(NCAPH):c.1616T>C (p.Val539Ala) rs2305935 0.30067
NM_000925.4(PDHB):c.267+42G>A rs62259772 0.30062
NM_000925.4(PDHB):c.438G>A (p.Gly146=) rs1126551 0.30058
NM_025132.4(WDR19):c.891C>T (p.Cys297=) rs2167494 0.30055
NM_138927.4(SON):c.6993T>C (p.Asn2331=) rs3174808 0.30037
NM_001136193.2(FASTKD2):c.*627T>C rs1048783 0.30015
NM_020436.5(SALL4):c.1056G>A (p.Ala352=) rs13038893 0.29998
NM_021926.4(ALX4):c.1074C>T (p.His358=) rs3802805 0.29957
NM_000514.4(GDNF):c.*2162G>T rs17379771 0.29955
NM_001172697.2(TSFM):c.*33G>A rs10783847 0.29936
NM_005529.7(HSPG2):c.*626C>G rs1049644 0.29929
NM_173086.5(KRT6C):c.198C>A (p.Gly66=) rs419374 0.29920
NM_001127671.2(LIFR):c.1292-80T>A rs16903989 0.29875
NM_001172697.2(TSFM):c.*114G>A rs10783848 0.29848
NM_001164508.2(NEB):c.6807+6T>G rs10930723 0.29833
NM_001291867.2(NHS):c.4018T>C (p.Phe1340Leu) rs3747295 0.29823
NM_002532.6(NUP88):c.468-38G>T rs1806263 0.29804
NM_138295.5(PKD1L1):c.3267T>A (p.Ala1089=) rs10951936 0.29797
NM_000093.5(COL5A1):c.1569+16A>G rs12685946 0.29746
NM_145068.4(TRPV3):c.1878C>T (p.Ser626=) rs12946883 0.29746
NM_001164508.2(NEB):c.1675-67C>T rs10193188 0.29744
NM_003334.4(UBA1):c.679-33C>G rs4239963 0.29685
NM_015114.3(ANKLE2):c.2159G>A (p.Arg720His) rs10781634 0.29679
NM_001852.4(COL9A2):c.977A>G (p.Gln326Arg) rs2228564 0.29671
NM_001113378.2(FANCI):c.2225G>C (p.Cys742Ser) rs2283432 0.29667
NM_001134673.4(NFIA):c.1083G>A (p.Pro361=) rs2236059 0.29650
NM_001351132.2(PEX5):c.967-26C>G rs3816424 0.29645
NM_213649.2(SFXN4):c.361-42C>T rs2275112 0.29607
NM_025150.5(TARS2):c.1719-47C>T rs3738487 0.29599
NM_000925.4(PDHB):c.*243A>C rs1126722 0.29583
NM_203486.3(DLL3):c.515T>G (p.Phe172Cys) rs8107127 0.29570
NM_006702.5(PNPLA6):c.-261T>C rs560849 0.29546
NM_004239.4(TRIP11):c.1527+41A>G rs3818095 0.29544
NM_015375.3(DSTYK):c.2028C>T (p.Phe676=) rs1062715 0.29534
NM_020812.4(DOCK6):c.3507A>T (p.Leu1169=) rs3810307 0.29532
NM_020533.3(MCOLN1):c.1360-98A>G rs4520943 0.29497
NM_017651.4(AHI1):c.-293G>T rs13197384 0.29491
NM_018475.5(TMEM165):c.*2_*3del rs35154686 0.29449
NM_004239.4(TRIP11):c.*952A>T rs1133441 0.29427
NM_000719.7(CACNA1C):c.1481+423G>A rs12304811 0.29414
NM_004370.6(COL12A1):c.5213T>C (p.Ile1738Thr) rs240736 0.29412
NM_001164508.2(NEB):c.5763+35T>C rs12620077 0.29408
NM_005559.4(LAMA1):c.6227T>C (p.Ile2076Thr) rs671871 0.29406
NM_138295.5(PKD1L1):c.1931+22G>A rs11766212 0.29397
NM_007215.4(POLG2):c.-81T>C rs9897606 0.29384
NM_007215.4(POLG2):c.505G>A (p.Ala169Thr) rs1427463 0.29359
NM_007215.4(POLG2):c.1110+44T>C rs7223078 0.29352
NM_002465.4(MYBPC1):c.774C>T (p.Asp258=) rs2293468 0.29320
NM_001122681.2(SH3BP2):c.*3877G>C rs735794 0.29318
NM_203486.3(DLL3):c.352-18C>G rs2304223 0.29309
NM_001378183.1(PIEZO2):c.7035G>A (p.Pro2345=) rs2277860 0.29299
NM_004239.4(TRIP11):c.5479G>A (p.Gly1827Ser) rs1051340 0.29281
NM_001354604.2(MITF):c.*2505C>T rs704246 0.29266
NM_001378964.1(CDON):c.*3884T>G rs13424 0.29239
NM_000719.7(CACNA1C):c.1391-64del rs34277236 0.29223
NM_004958.4(MTOR):c.5553C>T (p.Ser1851=) rs2275527 0.29172
NM_007294.4(BRCA1):c.4308T>C (p.Ser1436=) rs1060915 0.29170
NM_002618.4(PEX13):c.*952C>T rs56739127 0.29127
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941 0.29115
NM_001854.4(COL11A1):c.3168+41T>C rs1012282 0.29091
NM_001164508.2(NEB):c.8160+84G>A rs4664494 0.29054
NM_020436.5(SALL4):c.1520T>G (p.Leu507Arg) rs6126344 0.29053
NM_005554.4(KRT6A):c.62A>G (p.Asn21Ser) rs17845411 0.29042
NM_173086.5(KRT6C):c.417C>T (p.Thr139=) rs1053684 0.29042
NM_007294.4(BRCA1):c.2311T>C (p.Leu771=) rs16940 0.29035
NC_000002.12:g.88556729G>C rs33957402 0.29006
NM_001379403.1(WDR26):c.1945-30T>G rs7522956 0.28993
NM_015114.3(ANKLE2):c.364C>T (p.His122Tyr) rs1132375 0.28969
NM_213649.2(SFXN4):c.617-3C>T rs17668734 0.28961
NM_001114753.3(ENG):c.1687-117G>A rs1330684 0.28944
NM_207361.6(FREM2):c.*5899C>T rs1945504 0.28925
NM_001080449.3(DNA2):c.507C>A (p.Ala169=) rs3758626 0.28903
NM_052867.4(NALCN):c.3714C>T (p.Thr1238=) rs17677552 0.28902
NM_001011658.4(TRAPPC2):c.*1052T>C rs5979952 0.28849
NM_002272.4(KRT4):c.467A>G (p.Gln156Arg) rs7959052 0.28838
NM_004958.4(MTOR):c.6909G>A (p.Leu2303=) rs11121691 0.28827
NM_021830.5(TWNK):c.*766A>T rs3740488 0.28823
NM_024666.5(AAGAB):c.618+18A>G rs28693872 0.28816
NM_006579.3(EBP):c.15G>T (p.Ala5=) rs3048 0.28803
NM_020408.6(LYRM4):c.31T>G (p.Ser11Ala) rs2224391 0.28790
NM_004239.4(TRIP11):c.5260+24T>C rs2273182 0.28783
NM_015295.3(SMCHD1):c.3528A>G (p.Thr1176=) rs12327477 0.28781
NM_015295.3(SMCHD1):c.4137A>G (p.Ala1379=) rs2304859 0.28776
NM_020533.3(MCOLN1):c.984C>T (p.Asn328=) rs612862 0.28776
NM_000475.5(NR0B1):c.498G>A (p.Arg166=) rs2269345 0.28771
NM_001083961.2(WDR62):c.700-18C>T rs10423651 0.28763
NM_018699.4(PRDM5):c.681A>G (p.Leu227=) rs343192 0.28756
NM_000553.6(WRN):c.4083C>T (p.Ser1361=) rs1801196 0.28751
NM_000089.4(COL1A2):c.1665+15A>G rs421587 0.28734
NM_015295.3(SMCHD1):c.3277-42_3277-39dup rs10638660 0.28675
NM_181523.3(PIK3R1):c.428-21G>A rs171649 0.28654
NM_021830.5(TWNK):c.1593-5C>T rs3740485 0.28642
NM_021830.5(TWNK):c.1593-3T>C rs3740486 0.28631
NM_000071.3(CBS):c.699C>T (p.Tyr233=) rs234706 0.28613
NM_176787.5(PIGN):c.2502+49A>G rs1560502 0.28608
NM_000044.6(AR):c.639G>A (p.Glu213=) rs6152 0.28599
NM_000284.4(PDHA1):c.795A>G (p.Ala265=) rs1126565 0.28594
NM_014444.5(TUBGCP4):c.1280-24T>C rs999026 0.28568
NM_000046.5(ARSB):c.*1257A>C rs754567 0.28549
NM_147127.5(EVC2):c.3507C>T (p.His1169=) rs12511039 0.28547
NM_024666.5(AAGAB):c.394A>C (p.Ile132Leu) rs7173826 0.28536
NM_014804.3(KIAA0753):c.1697C>T (p.Pro566Leu) rs2304977 0.28533
NM_145020.5(CFAP53):c.880G>A (p.Glu294Lys) rs35193847 0.28522
NM_004544.4(NDUFA10):c.*414G>A rs13424612 0.28510
NM_024666.5(AAGAB):c.536-95G>A rs28418884 0.28500
NM_020184.4(CNNM4):c.*2120C>T rs12846 0.28467
NM_004544.4(NDUFA10):c.*3204C>T rs34277046 0.28460
NM_020751.3(COG6):c.1009+9A>G rs4129745 0.28442
NM_014875.3(KIF14):c.4897C>G (p.Pro1633Ala) rs12120084 0.28388
NM_004415.4(DSP):c.7122C>T (p.Thr2374=) rs2076300 0.28306
NM_006796.3(AFG3L2):c.*28G>C rs1129115 0.28281
NM_000059.4(BRCA2):c.3396A>G (p.Lys1132=) rs1801406 0.28273
NM_001174147.2(LMX1B):c.326+7G>C rs1336980 0.28269
NM_003072.5(SMARCA4):c.4887T>C (p.Asp1629=) rs7275 0.28266
NM_015295.3(SMCHD1):c.5476+10A>G rs3213926 0.28248
NM_004612.4(TGFBR1):c.*884A>G rs334348 0.28211
NM_173660.5(DOK7):c.332-18T>C rs2699425 0.28202
NM_014165.4(NDUFAF4):c.*332A>T rs10499008 0.28157
NM_000104.4(CYP1B1):c.-1-12C>T rs2617266 0.28114
NM_001360.3(DHCR7):c.*480C>T rs1790345 0.28111
NM_032273.4(TMEM126A):c.395+10A>G rs2196168 0.28103
NM_000925.4(PDHB):c.*353T>C rs1126735 0.28091
NM_003611.3(OFD1):c.1129+16A>G rs3815049 0.28069
NM_000719.7(CACNA1C):c.3913-270A>C rs216036 0.28066
NM_006883.2(SHOX):c.-507G>C rs111549748 0.28055
NM_004836.7(EIF2AK3):c.1791A>G (p.Gln597=) rs1805164 0.28054
NM_003995.4(NPR2):c.18T>C (p.Leu6=) rs2228580 0.28033
NM_002860.4(ALDH18A1):c.*699C>T rs4037 0.28027
NM_001174147.2(LMX1B):c.*1389T>G rs13300385 0.28012
NM_173086.5(KRT6C):c.816+13A>G rs7487256 0.27989
NM_001128225.3(SLC39A13):c.301+20C>T rs755555 0.27982
NM_001379081.2(FREM1):c.3634G>T (p.Ala1212Ser) rs35870000 0.27977
NM_002860.4(ALDH18A1):c.2110+24A>T rs2296691 0.27977
NM_002860.4(ALDH18A1):c.*412T>C rs8758 0.27959
NM_203486.3(DLL3):c.1029C>T (p.Pro343=) rs2304214 0.27957
NM_203486.3(DLL3):c.410-40C>T rs2278440 0.27956
NM_001378183.1(PIEZO2):c.1379-47T>C rs56112279 0.27943
NM_001378183.1(PIEZO2):c.1528-41T>C rs6505594 0.27928
NM_003995.4(NPR2):c.1794C>T (p.Tyr598=) rs5812 0.27923
NM_001164508.2(NEB):c.19314+42C>T rs2288206 0.27894
NM_147127.5(EVC2):c.1437A>G (p.Glu479=) rs13131655 0.27893
NM_001148.6(ANK2):c.7110A>G (p.Gln2370=) rs3733615 0.27889
NM_020442.6(VARS2):c.2038G>T (p.Val680Leu) rs2074506 0.27888
NM_001079520.2(DACT1):c.1280C>T (p.Ala427Val) rs17832998 0.27873
NM_000208.4(INSR):c.*1494G>A rs3745550 0.27864
NM_001395413.1(POR):c.1239+12C>T rs2286822 0.27856
NM_001999.4(FBN2):c.*733T>A rs13305 0.27788
NM_133459.4(CCBE1):c.*814T>G rs9954602 0.27783
NM_000090.4(COL3A1):c.2244T>C (p.Gly748=) rs1801184 0.27758
NM_014918.5(CHSY1):c.1905G>C (p.Val635=) rs28364839 0.27694
NM_006371.5(CRTAP):c.*2416T>C rs1127898 0.27685
NM_017988.6(SCYL2):c.2167C>T (p.Leu723=) rs10860580 0.27673
NM_018124.4(RFWD3):c.1755-33G>A rs11149759 0.27669
NM_000059.4(BRCA2):c.*369A>G rs7334543 0.27664
NM_000890.5(KCNJ5):c.*1338C>A rs6590358 0.27661
NM_002617.4(PEX10):c.*173G>A rs1129171 0.27656
NM_022095.4(ZNF335):c.1102+39C>T rs3746513 0.27648
NM_014780.5(CUL7):c.3993G>A (p.Leu1331=) rs2273917 0.27596
NM_020533.3(MCOLN1):c.877+26A>G rs2305889 0.27574
NM_018161.5(NADSYN1):c.317+22C>T rs1629220 0.27561
NM_018127.7(ELAC2):c.650C>T (p.Ser217Leu) rs4792311 0.27559
NM_078470.6(COX15):c.*2649G>A rs1128642 0.27557
NM_032888.4(COL27A1):c.1610T>C (p.Ile537Thr) rs2808770 0.27554
NM_001378183.1(PIEZO2):c.7215C>T (p.Ala2405=) rs3748421 0.27525
NM_000093.5(COL5A1):c.1720-48T>C rs10123014 0.27505
NM_032888.4(COL27A1):c.1902C>T (p.Gly634=) rs2808771 0.27430
NM_032656.4(DHX37):c.2578+17T>G rs11831506 0.27400
NM_001134831.2(AHI1):c.*218C>T rs1052502 0.27386
NM_000257.4(MYH7):c.732C>T (p.Phe244=) rs2069542 0.27385
NM_015261.3(NCAPD3):c.1689+20A>G rs1125399 0.27325
NM_000414.4(HSD17B4):c.1210-78T>C rs257969 0.27308
NM_001077418.3(TMEM231):c.582+17T>A rs2738801 0.27293
NM_004304.5(ALK):c.3375C>A (p.Gly1125=) rs3795850 0.27292
NM_018127.7(ELAC2):c.297-11T>C rs58809197 0.27292
NM_001174147.2(LMX1B):c.*3182A>G rs3861878 0.27278
NM_002010.3(FGF9):c.381+17C>T rs2274296 0.27243
NM_003922.4(HERC1):c.3743-8A>G rs7176133 0.27240
NM_000414.4(HSD17B4):c.1993+74G>C rs17145464 0.27235
NM_002755.4(MAP2K1):c.291+22G>C rs16949924 0.27222
NM_005869.4(CWC27):c.1108T>C (p.Leu370=) rs2278351 0.27219
NM_004565.3(PEX14):c.84+10837A>G rs616488 0.27206
NM_001366722.1(GRIP1):c.503-15C>A rs11838180 0.27190
NM_001614.5(ACTG1):c.363+58G>A rs9912409 0.27171
NM_004415.4(DSP):c.2862C>T (p.Cys954=) rs2064217 0.27166
NM_000719.7(CACNA1C):c.617+19T>C rs1544516 0.27158
NM_015631.6(TCTN3):c.1204-43T>C rs17461546 0.27142
NM_001164508.2(NEB):c.18366+78T>C rs7602715 0.27138
NM_000147.5(FUCA1):c.857A>G (p.Gln286Arg) rs13551 0.27120
NM_003640.5(ELP1):c.2446A>C (p.Ile816Leu) rs2230793 0.27106
NM_006364.4(SEC23A):c.1668A>G (p.Lys556=) rs11556216 0.27106
NM_002615.7(SERPINF1):c.390T>C (p.Thr130=) rs8074840 0.27102
NM_003184.4(TAF2):c.418+40C>T rs4871634 0.27095
NM_006364.4(SEC23A):c.1398+36A>G rs55993688 0.27090
NM_000046.5(ARSB):c.1191G>A (p.Pro397=) rs25413 0.27041
NM_014317.5(PDSS1):c.467+42G>C rs2368183 0.27040
NM_000719.7(CACNA1C):c.617+17G>A rs1544515 0.27035
NM_032888.4(COL27A1):c.359A>G (p.Gln120Arg) rs2567706 0.27032
NM_016495.6(TBC1D7):c.665+8G>A rs2439537 0.27001
NM_207361.6(FREM2):c.*5542T>A rs7327529 0.26970
NM_018127.7(ELAC2):c.1218+15C>T rs55825263 0.26965
NM_018127.7(ELAC2):c.1304+17A>T rs55674356 0.26960
NM_017934.7(PHIP):c.3278T>C (p.Leu1093Pro) rs9350797 0.26957
NM_000719.7(CACNA1C):c.2793+187A>G rs215981 0.26946
NM_145068.3(TRPV3):c.-190G>A rs322959 0.26919
NM_001003722.2(GLE1):c.1647-44A>G rs3763600 0.26906
NM_001003722.2(GLE1):c.727A>G (p.Ile243Val) rs2275260 0.26894
NM_001122630.2(CDKN1C):c.522T>C (p.Ala174=) rs191294997 0.26852
NM_015340.4(LARS2):c.1983G>A (p.Thr661=) rs11549809 0.26851
NM_207361.6(FREM2):c.*4770C>T rs6563648 0.26840
NM_013296.5(GPSM2):c.*455C>T rs10607 0.26833
NM_145068.4(TRPV3):c.1066-46T>C rs4790510 0.26811
NM_024426.6(WT1):c.887+16G>A rs1799933 0.26810
NM_182961.4(SYNE1):c.130-25C>T rs2141152 0.26785
NM_001081550.2(THOC2):c.2317-47A>G rs3764750 0.26774
NM_016277.5(RAB23):c.*1740C>T rs9382689 0.26771
NM_004304.5(ALK):c.4472A>G (p.Lys1491Arg) rs1881420 0.26767
NM_004618.5(TOP3A):c.1527C>T (p.Asp509=) rs2230154 0.26761
NM_001278689.2(EOGT):c.210+5G>A rs56761230 0.26744
NM_003051.4(SLC16A1):c.362-21A>C rs201021807 0.26702
NM_015311.3(OBSL1):c.4566C>T (p.Cys1522=) rs3087971 0.26702
NM_001378452.1(ITPR1):c.2658A>C (p.Leu886=) rs2306877 0.26698
NM_153717.3(EVC):c.1068A>G (p.Leu356=) rs33929747 0.26691
NM_001378183.1(PIEZO2):c.5589C>T (p.Ser1863=) rs7227022 0.26688
NM_001164508.2(NEB):c.5763+281G>A rs12616767 0.26661
NM_002615.7(SERPINF1):c.440-28C>T rs4274475 0.26633
NM_207361.6(FREM2):c.*3481G>A rs2184141 0.26619
NM_173086.5(KRT6C):c.755+13T>C rs10876294 0.26616
NM_207361.6(FREM2):c.*3192T>C rs7337135 0.26600
NM_004168.4(SDHA):c.1932G>A (p.Val644=) rs6961 0.26598
NM_020533.3(MCOLN1):c.1360-51C>T rs11880842 0.26598
NM_004415.4(DSP):c.*197C>T rs12250 0.26572
NM_002295.6(RPSA):c.134-32C>T rs3772138 0.26547
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr) rs7551175 0.26545
NM_002295.6(RPSA):c.519G>A (p.Leu173=) rs2269350 0.26529
NM_001164508.2(NEB):c.16705-18C>T rs61254943 0.26527
NM_001365951.3(KIF1B):c.1777+10C>T rs3753037 0.26503
NM_014444.5(TUBGCP4):c.1014+15G>A rs4608311 0.26487
NM_003924.4(PHOX2B):c.*1387C>T rs11723860 0.26435
NM_001174147.2(LMX1B):c.*2984C>T rs4083644 0.26400
NM_024312.5(GNPTAB):c.117+215C>T rs7980363 0.26376
NM_001378615.1(CC2D2A):c.3595-22C>T rs4280724 0.26375
NM_006329.4(FBLN5):c.-414C>T rs7149187 0.26340
NM_001164508.2(NEB):c.16909-168C>T rs3771901 0.26318
NC_000014.9:g.35405593G>A rs2233406 0.26309
NM_000512.5(GALNS):c.*611A>G rs1135364 0.26293
NC_000014.9:g.35405648T>C rs3138053 0.26291
NM_020699.4(GATAD2B):c.729+15G>A rs4363451 0.26283
NM_003640.5(ELP1):c.2294G>A (p.Gly765Glu) rs2230792 0.26279
NM_000428.3(LTBP2):c.*1818C>T rs1052939 0.26277
NM_004247.4(EFTUD2):c.994+6C>T rs11654183 0.26275
NM_001999.4(FBN2):c.*1415G>A rs1050687 0.26267
NM_006031.6(PCNT):c.2635A>G (p.Thr879Ala) rs2839227 0.26258
NM_173086.5(KRT6C):c.1441G>A (p.Val481Ile) rs412533 0.26256
NM_001282597.3(CTNNA2):c.1800T>C (p.Val600=) rs2228460 0.26255
NM_001303.4(COX10):c.*1385C>T rs1050223 0.26244
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys) rs10172023 0.26237
NM_001164508.2(NEB):c.24393+60A>C rs10497081 0.26227
NM_182961.4(SYNE1):c.17346+7G>A rs9383985 0.26223
NM_024596.5(MCPH1):c.2215-15C>G rs11137040 0.26204
NM_024596.5(MCPH1):c.2482C>T (p.Pro828Ser) rs1057091 0.26146
NM_006129.5(BMP1):c.2827-89C>T rs11778448 0.26144
NM_000368.5(TSC1):c.*1372T>G rs58612431 0.26140
NM_004168.4(SDHA):c.1038C>G (p.Ser346=) rs1041949 0.26134
NM_207361.6(FREM2):c.*2926G>A rs1945508 0.26131
NM_031296.3(RAB33B):c.*2651C>A rs3088313 0.26120
NM_207361.6(FREM2):c.*4560G>A rs2225623 0.26118
NM_015311.3(OBSL1):c.4067-34T>C rs13010015 0.26103
NM_001034852.3(SMOC1):c.858-26C>T rs116375526 0.26100
NM_016343.4(CENPF):c.1482C>G (p.His494Gln) rs2070065 0.26083
NM_021926.4(ALX4):c.*2479T>C rs897004 0.26076
NM_001797.4(CDH11):c.1253+43G>C rs35214 0.26060
NM_005726.6(TSFM):c.30T>C (p.Phe10=) rs10747783 0.26055
NM_006182.4(DDR2):c.1260C>G (p.Leu420=) rs2298258 0.26030
NM_001164508.2(NEB):c.24874-47A>T rs2288193 0.26026
NM_016653.3(MAP3K20):c.1032+39G>A rs16861404 0.26026
NM_000719.7(CACNA1C):c.1390+243T>C rs2239100 0.26025
NM_032888.4(COL27A1):c.3718-99A>G rs1628968 0.26000
NM_001174147.2(LMX1B):c.*3342T>C rs4083645 0.25994
NM_005559.4(LAMA1):c.3126+7A>G rs603258 0.25992
NM_002010.3(FGF9):c.278-14C>T rs3818460 0.25974
NM_000431.4(MVK):c.632-18A>G rs2270375 0.25946
NM_002296.4(LBR):c.*1532G>A rs7406 0.25845
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala) rs1801131 0.25830
NM_000428.3(LTBP2):c.1864+22C>A rs3742794 0.25792
NM_003482.4(KMT2D):c.12510A>G (p.Pro4170=) rs3741622 0.25778
NM_001174147.2(LMX1B):c.*748C>T rs10987414 0.25765
NM_001429.4(EP300):c.4618-18C>T rs2076578 0.25729
NM_000478.6(ALPL):c.862+58C>T rs2275375 0.25723
NM_001122681.2(SH3BP2):c.*634C>A rs73189445 0.25716
NM_004304.5(ALK):c.1155-8508A>G rs4322799 0.25712
NM_001194998.2(CEP152):c.3466+8G>C rs2306187 0.25704
NM_001844.5(COL2A1):c.762+15G>A rs10875716 0.25696
NM_016343.4(CENPF):c.4543G>A (p.Ala1515Thr) rs2666839 0.25667
NM_004614.5(TK2):c.-38A>G rs3743716 0.25659
NM_001378183.1(PIEZO2):c.7349+31A>C rs3748423 0.25652
NM_001048166.1(STIL):c.2954A>G (p.His985Arg) rs13376679 0.25624
NM_020779.4(WDR35):c.*523G>A rs957614 0.25621
NM_032656.4(DHX37):c.2696-26G>A rs6488959 0.25621
NM_020779.4(WDR35):c.*231C>A rs1056233 0.25618
NM_001018115.3(FANCD2):c.3849+13A>G rs9811771 0.25616
NM_001330078.2(NRXN1):c.3364+20T>C rs3213756 0.25608
NM_004565.3(PEX14):c.156C>T (p.Phe52=) rs12375 0.25602
NM_002427.4(MMP13):c.*885A>G rs1042840 0.25591
NM_018136.5(ASPM):c.3138G>A (p.Arg1046=) rs6676084 0.25582
NM_000168.6(GLI3):c.*2757C>T rs3823720 0.25562
NM_198239.2(CCN6):c.-254A>G rs3806964 0.25539
NM_002381.5(MATN3):c.1406-4C>T rs35973216 0.25515
NM_020964.3(EPG5):c.4532C>T (p.Ala1511Val) rs1893523 0.25513
NC_000001.11:g.24364274T>A rs545809 0.25496
NM_000466.3(PEX1):c.1484-36G>A rs2111200 0.25489
NM_001378964.1(CDON):c.*4052C>T rs3039 0.25442
NM_000238.4(KCNH2):c.1539C>T (p.Phe513=) rs1805120 0.25427
NM_001009994.3(RIPPLY2):c.12G>A (p.Ala4=) rs9353143 0.25423
NM_198525.3(KIF7):c.3517+6C>T rs74251725 0.25419
NM_000537.4(REN):c.373+44C>G rs2272237 0.25415
NM_001365276.2(TNXB):c.6842-24C>T rs2239689 0.25409
NM_001853.4(COL9A3):c.1304C>A (p.Ala435Glu) rs751557 0.25404
NM_005559.4(LAMA1):c.8982C>T (p.Asp2994=) rs2016639 0.25393
NM_001164508.2(NEB):c.25405-34T>C rs16830090 0.25362
NM_001366722.1(GRIP1):c.418+26A>G rs66522623 0.25360
NM_139125.4(MASP1):c.1851G>A (p.Leu617=) rs850312 0.25342
NM_138959.3(VANGL1):c.*416G>A rs3811011 0.25321
NM_017866.6(TMEM70):c.*892A>G rs2291217 0.25319
NM_139057.4(ADAMTS17):c.2138-12C>T rs28529328 0.25319
NM_138959.3(VANGL1):c.*1277C>T rs3204955 0.25318
NM_018109.4(MTPAP):c.555+19C>T rs1047988 0.25271
NM_001365276.2(TNXB):c.12170A>T (p.Asn4057Ile) rs17421133 0.25264
NM_004553.6(NDUFS6):c.187-84C>T rs3752844 0.25262
NM_005993.5(TBCD):c.2859T>C (p.Asp953=) rs1127986 0.25255
NM_000089.4(COL1A2):c.246T>C (p.Asp82=) rs1800222 0.25224
NM_004525.3(LRP2):c.8614G>A (p.Ala2872Thr) rs2228171 0.25207
NM_004168.4(SDHA):c.619A>C (p.Arg207=) rs6555055 0.25190
NM_012293.3(PXDN):c.2892C>T (p.Asn964=) rs3811613 0.25189
NM_004168.4(SDHA):c.1752A>G (p.Ala584=) rs13070 0.25187
NM_004168.4(SDHA):c.684T>C (p.Asn228=) rs2115272 0.25174
NM_004168.4(SDHA):c.309A>G (p.Ala103=) rs1139424 0.25161
NM_004168.4(SDHA):c.1680G>A (p.Thr560=) rs1139449 0.25156
NM_004168.4(SDHA):c.1908+90A>G rs6888536 0.25155
NM_001010867.4(IBA57):c.631G>A (p.Gly211Ser) rs2298014 0.25152
NM_001159773.2(CANT1):c.-239A>G rs12949479 0.25147
NM_001378964.1(CDON):c.*140A>G rs3737336 0.25130
NM_000537.4(REN):c.492+17T>G rs5707 0.25120
NM_001104631.2(PDE4D):c.921+41T>C rs2279737 0.25119
NM_001128225.3(SLC39A13):c.573G>A (p.Ala191=) rs2293576 0.25113
NM_004168.4(SDHA):c.896-20A>G rs7710005 0.25110
NM_001378964.1(CDON):c.3549C>T (p.Val1183=) rs2276061 0.25099
NM_000138.5(FBN1):c.1875T>C (p.Asn625=) rs25458 0.25074
NM_173086.5(KRT6C):c.183G>A (p.Leu61=) rs2885799 0.25049
NM_020964.3(EPG5):c.63+18C>T rs555802868 0.25000
NM_025074.7(FRAS1):c.*282A>T rs3749485 0.24962
NC_000001.11:g.230702585G>T rs7079 0.24948
NC_000001.11:g.230702512G>A rs2067853 0.24939
NM_001166114.2(PNPLA6):c.3699+42G>A rs538852 0.24937
NM_001206999.2(CIT):c.4077C>T (p.Ser1359=) rs278102 0.24929
NM_001018115.3(FANCD2):c.4281+197A>G rs7647987 0.24912
NM_018006.5(TRMU):c.*276G>A rs13585 0.24909
NM_138959.3(VANGL1):c.*3023G>T rs10923204 0.24904
NM_139057.4(ADAMTS17):c.*1779T>C rs12440706 0.24902
NM_020223.4(FAM20C):c.*30G>A rs36173075 0.24900
NM_001018115.3(FANCD2):c.4281+566T>G rs3826 0.24892
NM_001018115.3(FANCD2):c.4098T>G (p.Leu1366=) rs2272125 0.24889
NM_004044.7(ATIC):c.1228-30A>G rs13010249 0.24885
NM_001018115.3(FANCD2):c.4185+33T>C rs2272124 0.24884
NM_000512.5(GALNS):c.708C>T (p.His236=) rs1064315 0.24874
NM_004044.7(ATIC):c.347C>G (p.Thr116Ser) rs2372536 0.24863
NM_198525.3(KIF7):c.3319-30A>C rs72750748 0.24857
NM_001797.4(CDH11):c.764C>T (p.Thr255Met) rs35195 0.24798
NM_004959.5(NR5A1):c.437G>C (p.Gly146Ala) rs1110061 0.24774
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124 0.24768
NM_020529.3(NFKBIA):c.81C>T (p.Asp27=) rs1957106 0.24766
NM_002645.4(PIK3C2A):c.3036-37C>A rs147891939 0.24758
NM_001164508.2(NEB):c.17535+90A>G rs3732312 0.24731
NM_001164508.2(NEB):c.18294T>C (p.Tyr6098=) rs2288211 0.24726
NM_003070.5(SMARCA2):c.3672G>A (p.Glu1224=) rs6601 0.24705
NM_001164508.2(NEB):c.18156+222T>A rs12052998 0.24703
NM_032620.4(GTPBP3):c.974+37G>C rs11669718 0.24676
NM_003014.4(SFRP4):c.1019G>A (p.Arg340Lys) rs1802074 0.24674
NM_000478.6(ALPL):c.1190-65C>A rs1780329 0.24659
NM_002653.5(PITX1):c.896G>C (p.Gly299Ala) rs479632 0.24653
NM_014244.5(ADAMTS2):c.*1486C>A rs1863918 0.24649
NM_018109.4(MTPAP):c.484C>T (p.Arg162Cys) rs1047991 0.24628
NM_005236.3(ERCC4):c.2505T>C (p.Ser835=) rs1799801 0.24619
NM_006031.6(PCNT):c.6821C>T (p.Pro2274Leu) rs2070425 0.24579
NM_025074.7(FRAS1):c.108+2546T>C rs10008489 0.24570
NM_003383.5(VLDLR):c.2416+8G>T rs6145 0.24562
NM_004168.4(SDHA):c.1886A>T (p.Tyr629Phe) rs6960 0.24550
NM_003052.5(SLC34A1):c.774T>C (p.His258=) rs5030873 0.24542
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu) rs2227291 0.24533
NM_001206999.2(CIT):c.3157-11C>T rs11064891 0.24533
NM_015295.3(SMCHD1):c.5548-43_5548-40del rs35853884 0.24521
NM_018082.6(POLR3B):c.3396T>C (p.Asn1132=) rs13561 0.24486
NM_005529.7(HSPG2):c.12312T>C (p.Asp4104=) rs2228347 0.24480
NM_017866.6(TMEM70):c.-23C>T rs2306486 0.24480
NM_000264.5(PTCH1):c.*3232G>T rs357565 0.24468
NM_018082.6(POLR3B):c.*347A>G rs2288266 0.24463
NM_000302.4(PLOD1):c.294C>T (p.Phe98=) rs7529452 0.24445
NM_003321.5(TUFM):c.248-18G>A rs8061877 0.24423
NM_000478.6(ALPL):c.298-97C>T rs1256336 0.24412
NM_014244.5(ADAMTS2):c.2028C>T (p.Asp676=) rs1972715 0.24390
NM_014244.5(ADAMTS2):c.1952-82T>A rs1549603 0.24380
NM_006371.5(CRTAP):c.*1467G>A rs4678475 0.24367
NM_001429.4(EP300):c.4452+20C>T rs6002271 0.24366
NM_001174147.2(LMX1B):c.*584C>T rs34200683 0.24353
NM_001378452.1(ITPR1):c.7054C>T (p.Leu2352=) rs2291862 0.24351
NM_014918.5(CHSY1):c.303G>C (p.Arg101=) rs7176149 0.24315
NM_020320.5(RARS2):c.111-21C>T rs9450740 0.24263
NM_138959.3(VANGL1):c.*6026G>A rs6428677 0.24227
NM_001098511.3(KIF2A):c.65-20T>C rs3213940 0.24224
NM_025074.7(FRAS1):c.3406G>A (p.Glu1136Lys) rs12512164 0.24213
NM_176787.5(PIGN):c.939T>C (p.Asn313=) rs34227891 0.24195
NM_021926.4(ALX4):c.*2832A>C rs1840254 0.24185
NM_004304.5(ALK):c.3359+6C>T rs4622670 0.24182
NM_001367624.2(ZNF469):c.*8G>A rs45504291 0.24166
NM_007055.4(POLR3A):c.*1965A>G rs2241546 0.24142
NM_024596.5(MCPH1):c.1782G>A (p.Thr594=) rs2584 0.24125
NM_014140.4(SMARCAL1):c.1711-132G>A rs2738284 0.24087
NM_001001433.3(STX16):c.*1928C>T rs11578 0.24059
NM_152419.3(HGSNAT):c.1377+20G>A rs17603428 0.24049
NM_000208.4(INSR):c.1610+28A>C rs2860177 0.24043
NM_198859.4(PRICKLE2):c.579G>A (p.Pro193=) rs17720698 0.24032
NM_001365951.3(KIF1B):c.285C>G (p.Ala95=) rs12402052 0.24010
NM_016284.5(CNOT1):c.4128G>A (p.Leu1376=) rs246258 0.24002
NM_182943.3(PLOD2):c.1500+12A>G rs73010484 0.23989
NM_032043.3(BRIP1):c.-31+12G>A rs4988340 0.23980
NM_015909.4(NBAS):c.4462-31A>G rs2042145 0.23973
NM_001174147.2(LMX1B):c.*1666C>T rs10987416 0.23942
NM_152564.5(VPS13B):c.10061+24G>A rs34513504 0.23936
NM_014165.4(NDUFAF4):c.*1443G>A rs7758762 0.23921
NM_014165.4(NDUFAF4):c.*301T>A rs1854268 0.23899
NM_152594.3(SPRED1):c.424-18G>A rs7179118 0.23890
NM_033337.3(CAV3):c.123T>C (p.Phe41=) rs13087941 0.23875
NM_000512.5(GALNS):c.*36G>A rs11076715 0.23846
NM_014244.5(ADAMTS2):c.2291-193G>A rs2303645 0.23837
NM_001110219.3(GJB6):c.*337G>T rs7333214 0.23835
NM_170707.4(LMNA):c.1338T>C (p.Asp446=) rs505058 0.23806
NM_014244.5(ADAMTS2):c.*1586A>G rs888760 0.23763
NM_006121.4(KRT1):c.1898A>G (p.Lys633Arg) rs14024 0.23729
NM_001163809.2(WDR81):c.5506-19C>G rs62090051 0.23717
NM_014244.5(ADAMTS2):c.1629+24G>C rs2303637 0.23704
NM_014244.5(ADAMTS2):c.3529C>T (p.Pro1177Ser) rs1054480 0.23682
NM_001365951.3(KIF1B):c.5301C>A (p.Thr1767=) rs11121552 0.23676
NM_213674.1(TPM2):c.-137T>A rs3793540 0.23673
NM_014244.5(ADAMTS2):c.*2951G>A rs1044205 0.23671
NM_213674.1(TPM2):c.-136T>A rs3793539 0.23669
NM_006270.5(RRAS):c.454-10C>G rs731861 0.23663
NM_014244.5(ADAMTS2):c.*2952T>A rs1044209 0.23661
NM_213674.1(TPM2):c.-135T>A rs3793538 0.23661
NM_001148.6(ANK2):c.3579C>T (p.Arg1193=) rs3736575 0.23645
NM_024757.5(EHMT1):c.444T>C (p.Pro148=) rs3812497 0.23632
NM_016284.5(CNOT1):c.5896-5C>T rs37060 0.23617
NM_000090.4(COL3A1):c.3824-31C>A rs10204508 0.23605
NM_198173.3(GRHL3):c.1746C>T (p.Val582=) rs12030057 0.23598
NM_173086.5(KRT6C):c.1460-10C>A rs35481773 0.23584
NM_173086.5(KRT6C):c.1314G>A (p.Lys438=) rs3894847 0.23563
NM_017866.6(TMEM70):c.777C>G (p.Asp259Glu) rs1053077 0.23539
NM_017866.6(TMEM70):c.*771G>A rs6472811 0.23535
NM_017866.6(TMEM70):c.748A>G (p.Thr250Ala) rs1053079 0.23525
NM_017866.6(TMEM70):c.*169A>G rs1053054 0.23523
NM_000090.4(COL3A1):c.1978-11C>T rs13306272 0.23521
NM_018718.3(CEP41):c.*4037A>G rs7793239 0.23508
NM_021926.4(ALX4):c.*3166C>T rs7116335 0.23498
NC_000022.11:g.19755901C>T rs41260844 0.23484
NM_021926.4(ALX4):c.*228C>T rs4755798 0.23484
NM_005585.5(SMAD6):c.875-22C>A rs2278604 0.23475
NM_020806.5(GPHN):c.202-6T>C rs3784075 0.23447
NM_018486.3(HDAC8):c.159G>A (p.Gln53=) rs11093377 0.23437
NM_002437.5(MPV17):c.462-21T>C rs62130714 0.23408
NM_133459.4(CCBE1):c.*3780A>T rs12957684 0.23405
NM_013352.4(DSE):c.74C>T (p.Thr25Ile) rs10485183 0.23388
NM_000090.4(COL3A1):c.*799_*800del rs13306265 0.23375
NM_014918.5(CHSY1):c.57C>T (p.Gly19=) rs7175303 0.23372
NM_001018115.3(FANCD2):c.784-19C>T rs9879080 0.23357
NM_001018115.3(FANCD2):c.2976+36T>C rs6805869 0.23353
NM_001145678.3(KIAA0825):c.2551G>A (p.Ala851Thr) rs29910 0.23345
NM_001303.4(COX10):c.*1078C>T rs13183 0.23332
NM_001303.4(COX10):c.*297G>A rs8076247 0.23328
NM_000540.3(RYR1):c.7614+10C>G rs2960323 0.23284
NM_024009.3(GJB3):c.*369G>C rs2236214 0.23276
NM_024537.4(CARS2):c.417C>T (p.Leu139=) rs2304767 0.23275
NM_014822.4(SEC24D):c.913+49C>T rs2303513 0.23236
NM_017988.6(SCYL2):c.177+35C>A rs7965910 0.23219
NM_000512.5(GALNS):c.*652A>G rs1135366 0.23189
NM_030957.4(ADAMTS10):c.2283T>C (p.Pro761=) rs4476282 0.23173
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_005120.3(MED12):c.4415+29T>C rs10521349 0.23097
NM_025074.7(FRAS1):c.8745C>T (p.Phe2915=) rs41327848 0.23030
NM_001330078.2(NRXN1):c.-281T>C rs35228545 0.23029
NM_000219.5(KCNE1):c.-577C>T rs11702354 0.23004
NM_025152.3(NUBPL):c.*312G>A rs10162516 0.22998
NM_000284.4(PDHA1):c.*1394C>T rs55856360 0.22991
NM_000280.4(PAX6):c.*2707C>T rs3026398 0.22983
NM_005236.3(ERCC4):c.207+11G>A rs762521 0.22979
NM_017988.6(SCYL2):c.1096-23T>A rs7968030 0.22967
NM_002010.3(FGF9):c.*1094C>T rs3715 0.22949
NM_022114.4(PRDM16):c.444C>T (p.Ser148=) rs2282198 0.22946
NM_138959.3(VANGL1):c.*6199A>T rs3811007 0.22923
NM_019892.6(INPP5E):c.1794G>T (p.Gly598=) rs33982662 0.22912
NM_001174147.2(LMX1B):c.*708G>A rs10987413 0.22906
NM_000284.4(PDHA1):c.760-15C>A rs7058209 0.22904
NM_014141.6(CNTNAP2):c.*2921C>T rs10243309 0.22898
NM_012243.3(SLC35A3):c.357A>G (p.Leu119=) rs534252 0.22875
NM_001793.5(CDH3):c.-537A>G rs11644435 0.22872
NM_000284.4(PDHA1):c.*1059G>A rs15816 0.22867
NM_004560.4(ROR2):c.98-15G>C rs7863557 0.22863
NM_000256.3(MYBPC3):c.1091-24C>T rs2856650 0.22861
NM_001163809.2(WDR81):c.*56A>G rs2287322 0.22860
NM_016030.6(TRAPPC12):c.432C>T (p.Ala144=) rs11127423 0.22847
NM_005996.4(TBX3):c.*1510A>G rs1061657 0.22845
NM_023110.3(FGFR1):c.*1632A>G rs13317 0.22837
NM_000284.4(PDHA1):c.*844A>G rs1042453 0.22833
NM_002734.5(PRKAR1A):c.*1244T>C rs9925 0.22809
NM_001042750.2(STAG2):c.1417-39A>C rs2297651 0.22776
NM_000208.4(INSR):c.*784C>G rs1051651 0.22772
NM_000284.4(PDHA1):c.*728C>T rs1042452 0.22767
NM_000525.4(KCNJ11):c.570C>T (p.Ala190=) rs5218 0.22765
NM_001291415.2(KDM6A):c.4161+14T>C rs5952682 0.22765
NM_006412.4(AGPAT2):c.*517C>T rs10320 0.22742
NM_005236.3(ERCC4):c.1905-28G>A rs1799800 0.22729
NM_020442.6(VARS2):c.2750G>A (p.Arg917Gln) rs9394021 0.22711
NM_020442.6(VARS2):c.1272C>T (p.Ser424=) rs2285319 0.22709
NM_025074.7(FRAS1):c.7254A>G (p.Lys2418=) rs34840208 0.22689
NM_138927.4(SON):c.6161-40T>C rs2070389 0.22685
NM_181523.3(PIK3R1):c.978G>A (p.Met326Ile) rs3730089 0.22679
NM_000208.4(INSR):c.*4474C>T rs1052371 0.22677
NM_000284.4(PDHA1):c.*319G>T rs1042449 0.22677
NM_000088.4(COL1A1):c.588+33T>C rs35231764 0.22664
NM_005026.5(PIK3CD):c.2808C>T (p.Tyr936=) rs11121484 0.22663
NC_000019.10:g.7112254G>A rs12150997 0.22638
NM_001358921.2(COQ2):c.840C>T (p.Ser280=) rs1129617 0.22636
NM_000284.4(PDHA1):c.*322G>A rs1042450 0.22629
NM_152594.3(SPRED1):c.*3830G>A rs8039150 0.22628
NM_145068.4(TRPV3):c.*3076A>C rs9913028 0.22625
NM_006147.4(IRF6):c.*742A>T rs742215 0.22621
NM_018082.6(POLR3B):c.2055T>C (p.Tyr685=) rs10861607 0.22605
NM_001018115.3(FANCD2):c.990-38C>G rs9809061 0.22591
NM_004836.7(EIF2AK3):c.1763+6A>T rs6750998 0.22566
NM_002734.5(PRKAR1A):c.*1777C>T rs7977 0.22564
NM_145068.4(TRPV3):c.*1565T>C rs9303177 0.22552
NM_014780.5(CUL7):c.339C>T (p.Asp113=) rs4711738 0.22523
NM_080680.3(COL11A2):c.3384C>T (p.Pro1128=) rs1799911 0.22509
NM_001254.4(CDC6):c.1321G>A (p.Val441Ile) rs13706 0.22496
NM_000093.5(COL5A1):c.3475-42G>C rs3811152 0.22492
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg) rs1346044 0.22492
NM_022916.6(VPS33A):c.1440+23G>A rs2271408 0.22485
NM_030631.4(SLC25A21):c.270+15C>T rs10135196 0.22479
NM_015330.6(SPECC1L):c.570G>A (p.Thr190=) rs3747113 0.22461
NM_016111.4(TELO2):c.2227-39C>T rs3736721 0.22446
NM_006031.6(PCNT):c.5522A>G (p.Asn1841Ser) rs35940413 0.22440
NM_145068.4(TRPV3):c.*2093C>T rs9912448 0.22439
NM_001429.4(EP300):c.2989A>G (p.Ile997Val) rs20551 0.22427
NM_005120.3(MED12):c.736-8A>C rs62609586 0.22423
NM_002386.4(MC1R):c.*140A>G rs3212369 0.22392
NM_001330078.2(NRXN1):c.-421A>C rs67661616 0.22388
NM_015272.5(RPGRIP1L):c.1401+127A>G rs7192060 0.22379
NM_000093.5(COL5A1):c.1570-59T>C rs12686426 0.22376
NM_000203.5(IDUA):c.352C>T (p.Leu118=) rs3755954 0.22368
NM_005199.5(CHRNG):c.921-12C>T rs13018423 0.22363
NM_014140.4(SMARCAL1):c.-218C>T rs3755141 0.22352
NM_006147.4(IRF6):c.*2151C>A rs1044516 0.22319
NC_000012.12:g.32744503T>C rs1971910 0.22300
NM_001366686.3(SIK3):c.1953-11C>T rs11216164 0.22297
NM_000075.4(CDK4):c.*706G>A rs184712 0.22296
NM_000925.4(PDHB):c.793-41G>A rs62259769 0.22293
NM_152564.5(VPS13B):c.*1783C>T rs7157 0.22293
NM_016013.4(NDUFAF1):c.26G>A (p.Arg9His) rs1899 0.22292
NM_013337.4(TIMM22):c.508+45A>G rs12941159 0.22287
NM_025152.3(NUBPL):c.*1888G>A rs7148746 0.22286
NM_004044.7(ATIC):c.-59T>G rs4535042 0.22285
NM_000925.4(PDHB):c.*99C>T rs7230 0.22245
NM_014141.6(CNTNAP2):c.2280A>G (p.Ser760=) rs10240503 0.22240
NM_001163809.2(WDR81):c.5127G>A (p.Pro1709=) rs8065251 0.22229
NM_000925.4(PDHB):c.*356A>G rs1126737 0.22224
NM_000214.3(JAG1):c.3528C>T (p.Tyr1176=) rs1051421 0.22213
NM_004836.7(EIF2AK3):c.407C>G (p.Ser136Cys) rs867529 0.22211
NM_139284.3(LGI4):c.*10C>T rs3826989 0.22206
NM_000514.4(GDNF):c.*1651A>G rs11111 0.22202
NM_002465.4(MYBPC1):c.1634-18del rs3835190 0.22202
NM_020975.6(RET):c.*1116T>C rs2435355 0.22170
NM_000503.6(EYA1):c.*1324T>C rs56115941 0.22152
NM_007118.4(TRIO):c.3033C>T (p.Asn1011=) rs13189406 0.22131
NM_006147.4(IRF6):c.*1329C>T rs2235372 0.22102
NM_003477.2(PDHX):c.-129C>T rs112032820 0.22090
NM_005120.3(MED12):c.205-38C>T rs12850852 0.22082
NM_024408.4(NOTCH2):c.2753-44C>T rs2493420 0.22074
NM_001276345.2(TNNT2):c.811-122C>G rs45509695 0.22049
NM_001276345.2(TNNT2):c.811-33C>T rs2275863 0.22049
NM_005120.3(MED12):c.3930A>C (p.Pro1310=) rs5030619 0.21992
NM_006147.4(IRF6):c.*840A>G rs742214 0.21988
NM_000071.3(CBS):c.*123C>G rs1051319 0.21968
NM_001174147.2(LMX1B):c.*3346G>A rs7023938 0.21957
NM_004618.5(TOP3A):c.916-49G>A rs2294913 0.21931
NM_005559.4(LAMA1):c.4729T>G (p.Ser1577Ala) rs12961939 0.21927
NM_032444.4(SLX4):c.753G>A (p.Ala251=) rs8061528 0.21914
NM_001077418.3(TMEM231):c.-6G>C rs3743602 0.21908
NM_003640.5(ELP1):c.3214T>A (p.Cys1072Ser) rs3204145 0.21876
NM_138927.4(SON):c.2706T>C (p.Asp902=) rs16990760 0.21862
NM_001163809.2(WDR81):c.2739G>A (p.Leu913=) rs9912287 0.21861
NM_018122.5(DARS2):c.228-20T>C rs55878143 0.21856
NM_003640.5(ELP1):c.3473C>T (p.Pro1158Leu) rs1538660 0.21853
NM_025074.7(FRAS1):c.6444C>T (p.Thr2148=) rs17003235 0.21846
NM_000112.4(SLC26A2):c.*1024T>G rs8073 0.21816
NM_001278689.2(EOGT):c.1084-14C>G rs4855540 0.21801
NM_003477.3(PDHX):c.301A>G (p.Thr101Ala) rs11539202 0.21800
NM_000203.5(IDUA):c.1525-38T>C rs1131853 0.21794
NM_000404.4(GLB1):c.*354T>C rs12167 0.21789
NM_004168.4(SDHA):c.1908+85G>A rs6864807 0.21789
NM_176787.5(PIGN):c.806-7T>A rs61751989 0.21786
NM_003640.5(ELP1):c.1460+72A>G rs2304779 0.21723
NM_001291303.3(FAT4):c.10577G>A (p.Gly3526Asp) rs1567047 0.21721
NM_147127.5(EVC2):c.688A>G (p.Ser230Gly) rs4689278 0.21710
NM_001163809.2(WDR81):c.5640C>T (p.Ser1880=) rs8077638 0.21643
NM_014244.5(ADAMTS2):c.2959-17C>T rs2303641 0.21622
NM_000512.5(GALNS):c.*701C>G rs77936719 0.21621
NM_000318.3(PEX2):c.-164C>A rs12718 0.21609
NM_000335.5(SCN5A):c.*1537T>C rs41315485 0.21494
NM_020771.4(HACE1):c.2292T>C (p.Phe764=) rs7752614 0.21476
NM_015631.6(TCTN3):c.1453-28A>G rs12784530 0.21461
NM_133259.4(LRPPRC):c.738-70T>C rs17031786 0.21424
NM_133259.4(LRPPRC):c.1155+30A>G rs7593842 0.21391
NM_032888.4(COL27A1):c.4206+39A>G rs1249742 0.21363
NM_133259.4(LRPPRC):c.1843-28T>G rs72877186 0.21363
NM_000262.3(NAGA):c.598-15C>T rs2854827 0.21339
NM_014423.4(AFF4):c.2397-37T>C rs11739417 0.21295
NM_025136.4(OPA3):c.*3874G>A rs62109650 0.21272
NM_000404.4(GLB1):c.1233+8T>C rs13093698 0.21250
NM_022552.5(DNMT3A):c.1266G>A (p.Leu422=) rs2276598 0.21245
NM_138927.4(SON):c.4152G>A (p.Leu1384=) rs61739710 0.21234
NM_198253.3(TERT):c.915G>A (p.Ala305=) rs2736098 0.21206
NM_001371623.1(TCOF1):c.4172C>T (p.Ala1391Val) rs15251 0.21165
NM_001379286.1(ZNF423):c.2697T>C (p.Cys899=) rs3803667 0.21148
NM_052859.4(RFT1):c.*490T>A rs62255926 0.21145
NM_001148.6(ANK2):c.3893+14G>T rs2272231 0.21141
NM_153603.4(COG7):c.*47C>T rs250587 0.21141
NM_032888.4(COL27A1):c.265G>A (p.Val89Ile) rs2567707 0.21138
NM_004453.4(ETFDH):c.*135A>C rs17843966 0.21115
NM_025152.3(NUBPL):c.*444C>T rs10162515 0.21109
NM_024665.7(TBL1XR1):c.766+5A>G rs3749234 0.21092
NM_000090.4(COL3A1):c.2092G>A (p.Ala698Thr) rs1800255 0.21080
NM_002076.4(GNS):c.*269C>T rs2279597 0.21062
NM_000208.4(INSR):c.1861+27C>T rs3815902 0.21056
NM_020964.3(EPG5):c.4646+35T>C rs3826634 0.21003
NM_015311.3(OBSL1):c.2681-33del rs55904205 0.21002
NM_022095.4(ZNF335):c.1103-7G>A rs3746512 0.20987
NM_005159.4(ACTC1):c.*1445C>G rs8037241 0.20984
NM_001395413.1(POR):c.378A>G (p.Pro126=) rs1135612 0.20982
NM_000685.5(AGTR1):c.*86A>C rs5186 0.20976
NM_000977.4(RPL13):c.93T>G (p.Arg31=) rs2280370 0.20955
NM_031296.3(RAB33B):c.-54C>G rs13128486 0.20953
NM_002386.4(MC1R):c.942A>G (p.Thr314=) rs2228478 0.20949
NM_018026.4(PACS1):c.2293+6G>C rs476551 0.20949
NM_000512.5(GALNS):c.634-19G>A rs12934499 0.20916
NM_013296.5(GPSM2):c.*251T>C rs12030 0.20894
NM_000284.4(PDHA1):c.*1377G>A rs56039350 0.20892
NM_000112.4(SLC26A2):c.*5553G>A rs10476926 0.20874
NM_000093.5(COL5A1):c.1720-34C>T rs73558067 0.20873
NM_004715.5(CTDP1):c.978G>A (p.Thr326=) rs599554 0.20817
NM_000059.4(BRCA2):c.-26G>A rs1799943 0.20795
NM_020751.3(COG6):c.1074+18T>C rs9548882 0.20795
NM_000719.7(CACNA1C):c.3718-81T>C rs216007 0.20791
NM_004304.5(ALK):c.4165-6C>T rs17007646 0.20768
NM_182760.4(SUMF1):c.188G>A (p.Ser63Asn) rs2819590 0.20761
NM_017827.4(SARS2):c.268-27T>A rs4803046 0.20730
NM_020975.6(RET):c.135= (p.Ala45=) rs1800858 0.20726
NM_017827.4(SARS2):c.268-26C>A rs4803045 0.20722
NM_000719.7(CACNA1C):c.3357-517T>C rs215994 0.20720
NM_170707.4(LMNA):c.1698C>T (p.His566=) rs4641 0.20715
NM_004426.3(PHC1):c.2860+12C>T rs3026261 0.20711
NM_015341.5(NCAPH):c.1131T>C (p.Asp377=) rs3731935 0.20690
NM_000719.7(CACNA1C):c.3786C>T (p.Phe1262=) rs216008 0.20673
NM_173660.5(DOK7):c.1382G>A (p.Gly461Asp) rs9684786 0.20663
NM_004247.4(EFTUD2):c.762T>C (p.Thr254=) rs2289674 0.20662
NM_020975.6(RET):c.337+9G>A rs2435351 0.20641
NM_005257.6(GATA6):c.1620+7A>G rs3764962 0.20625
NM_003722.5(TP63):c.*2345C>T rs35592567 0.20615
NM_000093.5(COL5A1):c.*894T>C rs11103544 0.20603
NM_002010.3(FGF9):c.*2563G>C rs7317625 0.20594
NM_015311.3(OBSL1):c.2682C>T (p.Asp894=) rs3183099 0.20573
NM_138295.5(PKD1L1):c.6720A>G (p.Ala2240=) rs7788583 0.20573
NM_032444.4(SLX4):c.3365C>T (p.Pro1122Leu) rs714181 0.20566
NM_198525.3(KIF7):c.154G>A (p.Asp52Asn) rs8179065 0.20556
NM_020964.3(EPG5):c.4089C>T (p.His1363=) rs3744996 0.20554
NM_005932.4(MIPEP):c.1970+20A>C rs11620036 0.20535
NM_000286.3(PEX12):c.*166C>A rs1037590 0.20532
NM_020975.6(RET):c.2307= (p.Leu769=) rs1800861 0.20453
NM_001003722.2(GLE1):c.*73G>A rs10760563 0.20436
NM_013386.5(SLC25A24):c.276A>G (p.Lys92=) rs862493 0.20436
NM_000719.7(CACNA1C):c.3210-132C>T rs123263 0.20429
NM_001378615.1(CC2D2A):c.3201G>A (p.Ser1067=) rs73125627 0.20422
NM_014244.5(ADAMTS2):c.1630-18T>C rs2303638 0.20408
NM_002465.4(MYBPC1):c.2817A>G (p.Pro939=) rs764291 0.20383
NM_031296.2(RAB33B):c.-205G>C rs13126617 0.20381
NM_020975.6(RET):c.2608-24G>A rs2472737 0.20380
NM_001164508.2(NEB):c.4611+70T>C rs58903550 0.20373
NM_012123.4(MTO1):c.1180T>C (p.Leu394=) rs2036039 0.20359
NM_014141.6(CNTNAP2):c.1777+10A>G rs2286127 0.20355
NM_002010.3(FGF9):c.*372A>T rs546782 0.20354
NM_001330078.2(NRXN1):c.*1911G>T rs11885824 0.20346
NM_001164508.2(NEB):c.4435G>A (p.Val1479Ile) rs34577613 0.20341
NM_001378964.1(CDON):c.*3490T>C rs11220285 0.20329
NM_002524.5(NRAS):c.*872C>T rs14804 0.20324
NM_005559.4(LAMA1):c.2021A>C (p.Asn674Thr) rs566655 0.20323
NM_001369268.1(ACAN):c.7631-7G>A rs2280465 0.20322
NM_000089.4(COL1A2):c.*194C>T rs1060399 0.20320
NM_000238.4(KCNH2):c.2690A>C (p.Lys897Thr) rs1805123 0.20300
NM_152594.3(SPRED1):c.*4932A>G rs16966843 0.20289
NM_000208.4(INSR):c.3255C>T (p.His1085=) rs1799817 0.20288
NM_014244.5(ADAMTS2):c.1238+18G>A rs2278222 0.20277
NM_001378964.1(CDON):c.*3765C>T rs1047070 0.20261
NM_001018115.3(FANCD2):c.695+16G>C rs17032283 0.20237
NM_002465.4(MYBPC1):c.556+10C>G rs61935677 0.20237
NM_014244.5(ADAMTS2):c.1194C>T (p.Asp398=) rs2278221 0.20236
NM_000093.5(COL5A1):c.4177-107T>C rs7854010 0.20224
NM_001844.5(COL2A1):c.1366-11C>T rs10875714 0.20215
NM_000264.5(PTCH1):c.*3030A>G rs28485160 0.20192
NM_032656.4(DHX37):c.3195C>T (p.Ala1065=) rs4078216 0.20190
NM_001018115.3(FANCD2):c.439-16A>G rs17032278 0.20185
NM_032888.4(COL27A1):c.3933+128G>A rs1565502 0.20157
NM_001128225.3(SLC39A13):c.301+15G>A rs61000762 0.20155
NM_001378183.1(PIEZO2):c.2947-36G>A rs7507093 0.20120
NM_001844.5(COL2A1):c.504C>A (p.Gly168=) rs3737548 0.20086
NM_004531.5(MOCS2):c.*2158C>T rs17298242 0.20066
NM_002381.5(MATN3):c.909G>A (p.Thr303=) rs28452699 0.20065
NM_001378183.1(PIEZO2):c.6031G>C (p.Glu2011Gln) rs4796901 0.20035
NM_024666.5(AAGAB):c.619-37C>T rs2289262 0.20027
NM_003119.4(SPG7):c.1450-29G>A rs462464 0.20021
NM_005199.5(CHRNG):c.507-13C>T rs2853462 0.20012
NM_016343.4(CENPF):c.5310T>A (p.His1770Gln) rs3748693 0.20011
NM_001369268.1(ACAN):c.7233C>G (p.Asp2411Glu) rs3817428 0.20010
NM_018699.4(PRDM5):c.1234T>C (p.Leu412=) rs12499000 0.19996
NM_001164508.2(NEB):c.11289+99G>A rs62174707 0.19979
NM_000219.6(KCNE1):c.-252G>A rs2834502 0.19962
NM_022369.4(STRA6):c.1167-10C>G rs2277608 0.19949
NM_194318.4(B3GLCT):c.780+58A>G rs728930 0.19910
NM_002968.3(SALL1):c.3456C>T (p.His1152=) rs11645288 0.19907
NM_000112.4(SLC26A2):c.2065A>T (p.Thr689Ser) rs3776070 0.19906
NM_001018115.3(FANCD2):c.1122A>G (p.Val374=) rs34046352 0.19892
NM_014762.4(DHCR24):c.*221C>T rs1138030 0.19892
NM_001379081.2(FREM1):c.4857+8T>C rs1874108 0.19884
NM_001018115.3(FANCD2):c.2270-28G>T rs34608006 0.19876
NM_020433.5(JPH2):c.1186G>A (p.Ala396Thr) rs3810510 0.19815
NM_021252.5(RAB18):c.*3696T>A rs10829269 0.19806
NM_000512.5(GALNS):c.1483-32G>C rs11076716 0.19802
NM_007055.4(POLR3A):c.*1323C>T rs45570840 0.19800
NM_015272.5(RPGRIP1L):c.3432+67G>A rs113961478 0.19784
NM_005996.4(TBX3):c.-184C>T rs2242442 0.19780
NM_007055.4(POLR3A):c.*1461A>G rs3088264 0.19707
NM_207361.6(FREM2):c.7984-10G>A rs9532295 0.19705
NM_017636.4(TRPM4):c.92+31A>G rs11882563 0.19699
NM_003052.5(SLC34A1):c.389-20C>T rs3812036 0.19698
NM_001379081.2(FREM1):c.2408C>A (p.Ser803Tyr) rs7023244 0.19696
NM_000082.4(ERCC8):c.435T>C (p.Tyr145=) rs4647100 0.19656
NM_152594.3(SPRED1):c.*2831G>A rs35490364 0.19653
NM_017547.4(FOXRED1):c.*129C>G rs594318 0.19642
NM_000197.2(HSD17B3):c.-39A>G rs2066474 0.19625
NM_003477.2(PDHX):c.-202A>G rs113073242 0.19613
NM_004415.4(DSP):c.5213G>A (p.Arg1738Gln) rs6929069 0.19612
NM_003477.2(PDHX):c.-505G>A rs16926448 0.19609
NM_133259.4(LRPPRC):c.1677+152G>A rs59338949 0.19606
NM_003477.3(PDHX):c.108T>C (p.Ser36=) rs1049307 0.19592
NM_003477.3(PDHX):c.67C>T (p.Arg23Cys) rs1049306 0.19588
NM_000124.4(ERCC6):c.3637A>G (p.Arg1213Gly) rs2228527 0.19565
NM_024009.3(GJB3):c.*559G>C rs9118 0.19529
NM_001128159.3(VPS53):c.219-11T>C rs4968100 0.19527
NM_000719.7(CACNA1C):c.3357-172G>T rs215995 0.19502
NM_003119.4(SPG7):c.1779+47G>C rs3794632 0.19456
NM_000890.5(KCNJ5):c.*779G>T rs4373934 0.19421
NM_005359.6(SMAD4):c.*5131A>G rs12456284 0.19420
NM_144966.5(FREM1):c.*2254A>G rs7033371 0.19408
NM_000027.4(AGA):c.281+13T>G rs34241758 0.19395
NM_031296.3(RAB33B):c.*1303C>T rs4074940 0.19380
NM_020937.4(FANCM):c.2632G>T (p.Val878Leu) rs1367580 0.19378
NM_004565.3(PEX14):c.384+14A>T rs284238 0.19360
NM_004273.5(CHST3):c.*3053C>T rs12172746 0.19352
NM_032888.4(COL27A1):c.4083A>G (p.Gly1361=) rs1687410 0.19349
NM_002485.5(NBN):c.*1977T>C rs14448 0.19329
NM_004273.5(CHST3):c.*3987G>A rs56218110 0.19306
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu) rs3864017 0.19295
NM_000093.5(COL5A1):c.1332+25C>T rs56385965 0.19286
NM_001371986.1(UNC80):c.3455-13A>G rs2191906 0.19284
NC_000014.9:g.35405064G>A rs2233409 0.19281
NM_207346.3(TSEN54):c.114T>G (p.His38Gln) rs8079373 0.19277
NM_000233.4(LHCGR):c.*221G>C rs62137532 0.19256
NM_207346.3(TSEN54):c.285+3G>A rs8074291 0.19227
NM_207346.3(TSEN54):c.333C>G (p.Arg111=) rs6501818 0.19222
NM_032634.4(PIGO):c.2004G>A (p.Leu668=) rs10814196 0.19210
NM_003784.4(SERPINB7):c.797G>A (p.Arg266Gln) rs17782413 0.19172
NM_004525.3(LRP2):c.5100C>T (p.Ser1700=) rs2302694 0.19156
NM_001854.4(COL11A1):c.*1183A>G rs9659030 0.19114
NM_015295.3(SMCHD1):c.2338+32A>G rs62084229 0.19102
NM_030632.3(ASXL3):c.137+66G>A rs4799350 0.19076
NM_000124.4(ERCC6):c.3289A>G (p.Met1097Val) rs2228526 0.19072
NM_014244.5(ADAMTS2):c.1132+135G>A rs41285551 0.19040
NM_001291303.3(FAT4):c.13623G>A (p.Glu4541=) rs62312781 0.19007
NM_018026.4(PACS1):c.1993+8C>T rs2236651 0.18987
NM_003738.5(PTCH2):c.1821A>G (p.Glu607=) rs2295997 0.18953
NM_006031.6(PCNT):c.6715T>C (p.Trp2239Arg) rs35346764 0.18919
NM_000478.6(ALPL):c.*233A>C rs1772719 0.18915
NM_032888.4(COL27A1):c.3610-26T>C rs12685514 0.18914
NM_015311.3(OBSL1):c.2055C>A (p.Ala685=) rs1043537 0.18910
NM_033026.6(PCLO):c.860A>G (p.Asp287Gly) rs61741659 0.18909
NM_018249.6(CDK5RAP2):c.2274T>C (p.Asp758=) rs2501727 0.18906
NM_000162.5(GCK):c.*332G>A rs13306388 0.18894
NM_000124.4(ERCC6):c.4238A>G (p.Gln1413Arg) rs2228529 0.18890
NM_006859.4(LIAS):c.45+15G>A rs2687959 0.18886
NM_170707.4(LMNA):c.357-739T>G rs513043 0.18886
NM_000104.4(CYP1B1):c.*2409A>T rs162549 0.18874
NM_020975.6(RET):c.2284+47C>T rs760466 0.18873
NM_013275.6(ANKRD11):c.7713+54G>C rs12709112 0.18870
NM_000088.4(COL1A1):c.3815-35T>C rs2277632 0.18865
NM_015311.3(OBSL1):c.1818C>T (p.Phe606=) rs61732787 0.18850
NM_001164508.2(NEB):c.5031+48A>G rs4664496 0.18844
NM_006031.6(PCNT):c.7913+9G>C rs1023160 0.18804
NM_006031.6(PCNT):c.5322G>A (p.Glu1774=) rs58559714 0.18798
NM_000478.6(ALPL):c.876A>G (p.Pro292=) rs3200255 0.18763
NM_000719.7(CACNA1C):c.3356+180C>T rs215993 0.18727
NM_017547.4(FOXRED1):c.*113G>A rs667627 0.18697
NM_006031.6(PCNT):c.6563T>G (p.Met2188Arg) rs1044998 0.18680
NM_006031.6(PCNT):c.7082A>G (p.Gln2361Arg) rs7277175 0.18653
NM_006031.6(PCNT):c.6927A>G (p.Lys2309=) rs2839246 0.18636
NM_006031.6(PCNT):c.6290T>C (p.Leu2097Pro) rs2839245 0.18635
NM_001136193.2(FASTKD2):c.*1215G>A rs111954117 0.18633
NM_015631.6(TCTN3):c.500-11A>T rs11188434 0.18618
NM_020745.4(AARS2):c.*1300C>T rs1123523 0.18616
NM_003640.5(ELP1):c.3285+9C>T rs2275495 0.18606
NM_006031.6(PCNT):c.6384A>G (p.Thr2128=) rs60444527 0.18604
NM_006031.6(PCNT):c.7645G>A (p.Ala2549Thr) rs2839256 0.18603
NM_006031.6(PCNT):c.6374A>C (p.His2125Pro) rs35978208 0.18595
NM_001308093.3(GATA4):c.1001-219G>T rs4841588 0.18594
NM_001174147.2(LMX1B):c.*1255A>G rs16929236 0.18589
NM_001174147.2(LMX1B):c.*932G>T rs28687510 0.18581
NM_145861.4(EDARADD):c.369C>T (p.Asp123=) rs604070 0.18581
NM_001379081.2(FREM1):c.3089-4G>T rs10810249 0.18577
NM_005199.5(CHRNG):c.*568C>T rs72991939 0.18562
NM_014244.5(ADAMTS2):c.1776-26G>A rs9286045 0.18560
NM_025074.7(FRAS1):c.*33T>A rs72659058 0.18560
NM_003640.5(ELP1):c.3222+113A>G rs3780509 0.18545
NM_003640.5(ELP1):c.3222+115A>G rs3780508 0.18538
NM_000059.4(BRCA2):c.*532A>G rs11571836 0.18537
NM_000478.6(ALPL):c.863-46G>A rs74063110 0.18536
NM_018718.3(CEP41):c.*2041G>A rs73152868 0.18522
NM_005199.5(CHRNG):c.*496A>G rs72991937 0.18514
NM_002496.4(NDUFS8):c.*14C>T rs1051806 0.18509
NM_020458.4(TTC7A):c.1612G>C (p.Val538Leu) rs2304290 0.18502
NM_170784.3(MKKS):c.986-29A>T rs764266 0.18492
NM_173660.5(DOK7):c.1185C>T (p.Tyr395=) rs6850908 0.18472
NM_000478.6(ALPL):c.863-12C>G rs75829132 0.18464
NM_014846.4(WASHC5):c.979-20C>T rs12546285 0.18463
NM_000537.4(REN):c.204A>C (p.Thr68=) rs5705 0.18456
NM_000233.3(LHCGR):c.-58G>T rs10176989 0.18447
NM_170784.3(MKKS):c.117C>T (p.Pro39=) rs16991547 0.18435
NM_022167.4(XYLT2):c.177G>A (p.Glu59=) rs739990 0.18425
NM_022167.4(XYLT2):c.342C>T (p.Pro114=) rs739989 0.18425
NM_139057.4(ADAMTS17):c.2112C>T (p.Gly704=) rs4965583 0.18423
NM_001303.4(COX10):c.*371A>G rs11078234 0.18397
NM_003477.2(PDHX):c.-124G>C rs375130125 0.18392
NM_000059.4(BRCA2):c.3807T>C (p.Val1269=) rs543304 0.18381
NM_032888.4(COL27A1):c.2071-95C>T rs10982097 0.18362
NM_001009994.3(RIPPLY2):c.96-4G>A rs2298290 0.18347
NM_012082.4(ZFPM2):c.1208C>G (p.Ala403Gly) rs11993776 0.18341
NM_170707.4(LMNA):c.861T>C (p.Ala287=) rs538089 0.18331
NM_000890.5(KCNJ5):c.*1168C>G rs1137937 0.18319
NM_001127671.2(LIFR):c.*5169T>A rs3822426 0.18293
NM_001371623.1(TCOF1):c.2660T>C (p.Val887Ala) rs7713638 0.18279
NM_004715.5(CTDP1):c.1461G>A (p.Pro487=) rs2126082 0.18278
NM_006031.6(PCNT):c.5631C>T (p.Ile1877=) rs16979162 0.18249
NM_173660.5(DOK7):c.887A>G (p.Gln296Arg) rs6811423 0.18249
NM_014244.5(ADAMTS2):c.1133-57C>T rs4700784 0.18228
NM_207361.6(FREM2):c.1542C>T (p.Ala514=) rs12874397 0.18215
NM_014141.6(CNTNAP2):c.3248-4A>G rs3779031 0.18203
NM_173660.5(DOK7):c.1113A>C (p.Ser371=) rs6811856 0.18181
NM_001371623.1(TCOF1):c.1842A>G (p.Ser614=) rs2071239 0.18176
NM_025074.7(FRAS1):c.9116-6C>T rs76630865 0.18150
NM_001164508.2(NEB):c.8161-118A>T rs35172004 0.18143
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile) rs6962 0.18133
NM_005529.7(HSPG2):c.11352+25C>A rs2270701 0.18117
NM_000435.3(NOTCH3):c.303C>T (p.Thr101=) rs3815188 0.18114
NM_002894.3(RBBP8):c.2115G>A (p.Lys705=) rs17852769 0.18089
NM_006371.5(CRTAP):c.534C>T (p.Asp178=) rs4076086 0.18059
NM_025074.7(FRAS1):c.10377C>T (p.Thr3459=) rs3749487 0.18004
NM_000478.6(ALPL):c.862+51G>A rs2275376 0.17994
NM_152594.3(SPRED1):c.424-98= rs7163339 0.17991
NM_152594.3(SPRED1):c.424-8= rs7180446 0.17985
NM_006031.6(PCNT):c.9735A>C (p.Arg3245Ser) rs2073380 0.17969
NM_147127.5(EVC2):c.52C>T (p.Leu18Phe) rs6820907 0.17921
NM_001379081.2(FREM1):c.456A>G (p.Gln152=) rs10961757 0.17917
NM_005732.4(RAD50):c.551+19G>A rs17166050 0.17902
NM_000478.6(ALPL):c.862+20G>T rs2275377 0.17895
NM_152558.5(IQCE):c.825-4C>T rs2257285 0.17891
NM_003118.4(SPARC):c.66A>G (p.Glu22=) rs2304052 0.17890
NM_000478.6(ALPL):c.787T>C (p.Tyr263His) rs3200254 0.17878
NM_000478.6(ALPL):c.792+76T>C rs3738097 0.17870
NM_153427.2(PITX2):c.-1068C>T rs62338989 0.17862
NM_004304.5(ALK):c.3036G>A (p.Thr1012=) rs2293563 0.17851
NM_001127671.2(LIFR):c.2353G>A (p.Val785Ile) rs3110234 0.17829
NM_001127671.2(LIFR):c.2167+21T>C rs3110971 0.17819
NR_003051.4(RMRP):n.179C>T rs7021642 0.17814
NM_007118.4(TRIO):c.5203+20G>A rs56207939 0.17811
NM_015261.3(NCAPD3):c.1090-33A>G rs10791349 0.17800
NM_022458.4(LMBR1):c.*383T>C rs3487 0.17784
NM_000719.7(CACNA1C):c.2853+457C>T rs215984 0.17782
NM_145068.4(TRPV3):c.*949T>A rs55875649 0.17780
NM_024996.7(GFM1):c.689+891C>T rs56167308 0.17770
NM_001379081.2(FREM1):c.3657A>G (p.Ala1219=) rs10738380 0.17766
NM_014244.5(ADAMTS2):c.2532C>T (p.Asp844=) rs2303644 0.17766
NM_024996.7(GFM1):c.-33C>T rs28372852 0.17766
NM_025074.7(FRAS1):c.4635G>A (p.Pro1545=) rs78575519 0.17765
NM_001371623.1(TCOF1):c.1578C>T (p.Pro526=) rs2071238 0.17747
NM_198173.3(GRHL3):c.1110C>G (p.Val370=) rs11576645 0.17736
NC_000009.12:g.35657744A>G rs71521283 0.17718
NM_001379200.1(TBX1):c.960A>G (p.Ala320=) rs41298840 0.17709
NM_001379200.1(TBX1):c.1216A>C (p.Asn406His) rs72646967 0.17704
NM_001064.4(TKT):c.749-15G>A rs17234092 0.17692
NM_001379200.1(TBX1):c.447T>C (p.Phe149=) rs41298814 0.17676
NM_020458.4(TTC7A):c.1066-13G>A rs13407983 0.17668
NM_145861.4(EDARADD):c.*1787C>T rs6428955 0.17627
NM_005199.5(CHRNG):c.1422C>T (p.Arg474=) rs2099489 0.17611
NM_001371986.1(UNC80):c.3333C>G (p.Leu1111=) rs10178675 0.17606
NM_022662.4(ANAPC1):c.*2C>T rs1044864 0.17605
NM_000124.4(ERCC6):c.1196G>A (p.Gly399Asp) rs2228528 0.17598
NM_001384732.1(CPLANE1):c.6098T>G (p.Phe2033Cys) rs10076911 0.17594
NM_000057.4(BLM):c.3102G>A (p.Thr1034=) rs2227933 0.17570
NM_173660.5(DOK7):c.1134G>A (p.Ala378=) rs6831659 0.17563
NR_003051.4(RMRP):n.158G>C rs7021463 0.17549
NM_022458.4(LMBR1):c.*1325C>T rs1053214 0.17503
NM_001303.4(COX10):c.*1076T>C rs1050216 0.17502
NM_001164508.2(NEB):c.3879+20G>T rs12618063 0.17493
NM_001164508.2(NEB):c.16911A>G (p.Pro5637=) rs33988153 0.17490
NM_021252.5(RAB18):c.*3484T>C rs11598268 0.17485
NM_017827.4(SARS2):c.1413+39C>T rs11670675 0.17484
NM_021252.5(RAB18):c.*3476A>G rs11597728 0.17476
NM_014141.6(CNTNAP2):c.1659G>A (p.Ala553=) rs34592169 0.17471
NM_002472.3(MYH8):c.5208C>T (p.Asp1736=) rs33969260 0.17467
NM_002662.5(PLD1):c.1864G>T (p.Ala622Ser) rs2290480 0.17465
NM_004629.2(FANCG):c.646+58C>T rs17885726 0.17456
NM_001330078.2(NRXN1):c.511C>T (p.Leu171=) rs1045874 0.17452
NM_005045.4(RELN):c.10074A>G (p.Ala3358=) rs1062831 0.17444
NM_003282.4(TNNI2):c.186+26G>A rs2271441 0.17441
NM_020745.4(AARS2):c.*1576A>G rs1056092 0.17434
NC_000006.12:g.50818858G>A rs2272903 0.17374
NM_017866.6(TMEM70):c.100G>C (p.Ala34Pro) rs8075 0.17369
NM_004415.4(DSP):c.1dup (p.Met1fs) rs17133512 0.17362
NM_001136271.3(NKX2-6):c.204T>C (p.Asp68=) rs61732911 0.17325
NM_024120.5(NDUFAF5):c.263+81T>G rs6042361 0.17325
NM_000183.3(HADHB):c.825T>C (p.Val275=) rs1056389 0.17317
NM_020458.4(TTC7A):c.798G>A (p.Glu266=) rs17480869 0.17316
NM_001042545.2(LTBP4):c.*20G>A rs1051481 0.17303
NM_001308093.3(GATA4):c.-543C>T rs61277615 0.17297
NM_001330078.2(NRXN1):c.-951T>C rs2287235 0.17294
NM_000540.3(RYR1):c.7872C>T (p.Arg2624=) rs1469698 0.17268
NM_152564.5(VPS13B):c.3666+55T>C rs3134156 0.17268
NM_176787.5(PIGN):c.1962G>A (p.Leu654=) rs12326381 0.17264
NM_032888.4(COL27A1):c.2071-25C>T rs2567710 0.17247
NM_176787.5(PIGN):c.1245T>C (p.Asp415=) rs13381627 0.17246
NM_176787.5(PIGN):c.2010T>C (p.Thr670=) rs17714063 0.17242
NM_014244.5(ADAMTS2):c.858C>T (p.His286=) rs66565583 0.17241
NM_000182.5(HADHA):c.*302G>A rs1049987 0.17222
NM_004612.4(TGFBR1):c.*69A>G rs868 0.17222
NM_003738.5(PTCH2):c.3114+14C>T rs11211040 0.17210
NM_198173.3(GRHL3):c.165C>G (p.Asp55Glu) rs2486668 0.17201
NM_000183.3(HADHB):c.1014-14A>G rs17528590 0.17198
NM_000431.4(MVK):c.510C>T (p.Asp170=) rs2287218 0.17165
NM_000203.5(IDUA):c.1727+72T>G rs2305488 0.17150
NM_000478.6(ALPL):c.863-7T>C rs74063111 0.17114
NM_000203.5(IDUA):c.1402+36T>C rs115134980 0.17107
NM_018718.3(CEP41):c.*1859G>T rs73152869 0.17105
NM_138959.3(VANGL1):c.*83T>A rs3811013 0.17099
NM_000203.5(IDUA):c.972+48A>G rs6811373 0.17097
NM_176787.5(PIGN):c.1752G>A (p.Leu584=) rs9319997 0.17086
NM_005045.4(RELN):c.7887T>C (p.Pro2629=) rs56345626 0.17070
NM_020458.4(TTC7A):c.2544A>G (p.Val848=) rs3739099 0.17069
NM_000218.3(KCNQ1):c.477+3521G>A rs11823023 0.17068
NM_020975.6(RET):c.2712C>G (p.Ser904=) rs1800863 0.17043
NM_003070.5(SMARCA2):c.4638C>G (p.Asp1546Glu) rs2296212 0.17040
NM_020975.6(RET):c.*388G>A rs3026782 0.17032
NM_020975.6(RET):c.2608-147C>T rs11238441 0.17019
NM_005529.7(HSPG2):c.7294+25G>A rs2290500 0.16981
NM_000182.5(HADHA):c.474C>T (p.Tyr158=) rs11552518 0.16973
NM_001080414.4(CCDC88C):c.114C>T (p.Tyr38=) rs45437097 0.16963
NM_000203.5(IDUA):c.543T>C (p.Asn181=) rs6815946 0.16952
NM_000719.7(CACNA1C):c.522G>A (p.Ala174=) rs1544514 0.16949
NM_001999.4(FBN2):c.952+4177C>T rs13180243 0.16937
NM_139125.4(MASP1):c.5+4C>T rs72549254 0.16931
NM_004273.5(CHST3):c.*1314G>A rs4148944 0.16928
NM_001128159.3(VPS53):c.81C>T (p.Ile27=) rs11558129 0.16882
NM_000203.5(IDUA):c.1360G>A (p.Val454Ile) rs73066479 0.16867
NM_000719.7(CACNA1C):c.5444+259A>G rs3794288 0.16837
NM_000203.5(IDUA):c.1467C>T (p.Arg489=) rs115929690 0.16835
NM_000203.5(IDUA):c.942G>C (p.Ala314=) rs6830825 0.16834
NM_138959.3(VANGL1):c.*6212C>T rs3811006 0.16816
NM_138959.3(VANGL1):c.*4504C>T rs17034228 0.16812
NM_138959.3(VANGL1):c.*5266C>T rs17034230 0.16811
NM_001122955.4(BSCL2):c.486+11G>T rs72929434 0.16805
NM_176787.5(PIGN):c.1377T>C (p.Ser459=) rs17714875 0.16805
NM_000860.6(HPGD):c.*1154T>C rs9312555 0.16796
NM_020937.4(FANCM):c.524C>T (p.Ser175Phe) rs10138997 0.16789
NM_000203.5(IDUA):c.1081G>A (p.Ala361Thr) rs6831280 0.16782
NM_000719.7(CACNA1C):c.1508+264T>A rs4765959 0.16775
NM_000719.7(CACNA1C):c.5574-111T>G rs11062315 0.16775
NM_003722.4(TP63):c.*2789A>G rs11708746 0.16767
NM_144966.5(FREM1):c.*2378G>A rs16932231 0.16750
NM_000057.4(BLM):c.3358+32T>G rs17273842 0.16733
NM_000353.3(TAT):c.43C>T (p.Pro15Ser) rs74344827 0.16727
NM_000093.5(COL5A1):c.2431-25G>A rs41310213 0.16712
NM_022455.5(NSD1):c.6903G>C (p.Gly2301=) rs11740250 0.16701
NM_020975.6(RET):c.*95C>T rs17028 0.16697
NM_138295.5(PKD1L1):c.6062C>T (p.Pro2021Leu) rs66755489 0.16688
NM_052859.4(RFT1):c.*2840T>A rs9875573 0.16647
NM_020975.6(RET):c.2071G>A (p.Gly691Ser) rs1799939 0.16640
NM_024426.6(WT1):c.1122A>G (p.Arg374=) rs16754 0.16617
NM_004204.5(PIGQ):c.1567G>A (p.Gly523Ser) rs7187227 0.16607
NM_032888.4(COL27A1):c.2016+26A>G rs41306500 0.16574
NM_001122955.4(BSCL2):c.1137A>G (p.Glu379=) rs6856 0.16571
NM_000203.5(IDUA):c.1164G>C (p.Thr388=) rs6836258 0.16540
NM_022095.4(ZNF335):c.3522A>T (p.Pro1174=) rs16990951 0.16529
NM_004525.3(LRP2):c.5859A>G (p.Arg1953=) rs11886219 0.16510
NM_000431.4(MVK):c.769-38C>T rs35191208 0.16489
NM_001386795.1(DTNA):c.1903+17T>C rs541157 0.16470
NM_206937.2(LIG4):c.26C>T (p.Thr9Ile) rs1805388 0.16468
NM_000057.4(BLM):c.2308-50G>A rs17273206 0.16462
NM_005592.4(MUSK):c.402G>A (p.Glu134=) rs10980531 0.16445
NM_000540.3(RYR1):c.7863C>T (p.His2621=) rs2229142 0.16420
NM_213599.3(ANO5):c.2520+25G>C rs11026488 0.16418
NM_000977.4(RPL13):c.141C>T (p.Ala47=) rs174035 0.16408
NM_000493.4(COL10A1):c.1633G>C (p.Gly545Arg) rs2228547 0.16401
NM_000348.4(SRD5A2):c.*1552G>A rs1042578 0.16392
NM_020247.5(COQ8A):c.117G>A (p.Ala39=) rs11549708 0.16388
NM_020547.3(AMHR2):c.622-6C>T rs2071558 0.16377
NM_000346.4(SOX9):c.507C>T (p.His169=) rs2229989 0.16350
NM_022369.4(STRA6):c.*127T>C rs11631944 0.16338
NM_000219.6(KCNE1):c.*490G>C rs41314067 0.16321
NM_000138.5(FBN1):c.3464-5G>A rs11853943 0.16287
NM_000218.3(KCNQ1):c.1638G>A (p.Ser546=) rs1057128 0.16286
NM_018136.5(ASPM):c.2174-20T>C rs4915344 0.16253
NM_002386.4(MC1R):c.*581A>G rs3212371 0.16251
NM_000222.3(KIT):c.*1704G>T rs8022 0.16223
NM_020381.4(PDSS2):c.876+48C>T rs3734677 0.16221
NM_018136.5(ASPM):c.7605G>A (p.Val2535=) rs10922162 0.16179
NM_022662.4(ANAPC1):c.4341G>A (p.Pro1447=) rs56780932 0.16173
NM_001104631.2(PDE4D):c.*4039G>T rs10071088 0.16172
NM_001104631.2(PDE4D):c.*5118T>G rs11959349 0.16159
NC_000011.10:g.32438918G>A rs6508 0.16158
NM_001104631.2(PDE4D):c.*1638G>A rs10075508 0.16154
NM_001104631.2(PDE4D):c.*4915C>T rs13160982 0.16152
NM_000352.6(ABCC8):c.1947G>A (p.Lys649=) rs1799858 0.16150
NM_001104631.2(PDE4D):c.*4965G>T rs11956001 0.16146
NM_001104631.2(PDE4D):c.*1938C>T rs10940636 0.16145
NM_001104631.2(PDE4D):c.*5260T>C rs11950492 0.16137
NM_001382817.3(AGT):c.-30-3484G>A rs5049 0.16122
NM_022168.4(IFIH1):c.2616+11T>C rs3747518 0.16097
NM_001104631.2(PDE4D):c.*2279G>T rs12658211 0.16082
NM_001378964.1(CDON):c.2057C>T (p.Ala686Val) rs12274923 0.16080
NM_001104631.2(PDE4D):c.*2288A>G rs10036063 0.16069
NM_001104631.2(PDE4D):c.*2484T>C rs10035437 0.16055
NM_000218.3(KCNQ1):c.1393+31361T>A rs200391321 0.16051
NM_001291415.2(KDM6A):c.3267G>A (p.Gln1089=) rs20539 0.16047
NM_003244.4(TGIF1):c.-33C>A rs238132 0.16021
NM_001394062.1(MACF1):c.2634+7A>G rs41270803 0.15998
NM_001079866.2(BCS1L):c.1017T>C (p.Pro339=) rs35843327 0.15996
NM_020639.3(RIPK4):c.35C>G (p.Ala12Gly) rs6586239 0.15988
NM_000090.4(COL3A1):c.1816-14G>C rs7579815 0.15982
NM_000368.5(TSC1):c.1335A>G (p.Glu445=) rs7862221 0.15974
NM_001394062.1(MACF1):c.19762-13A>G rs2296173 0.15970
NM_000088.4(COL1A1):c.*744C>T rs1061947 0.15959
NM_001813.3(CENPE):c.243T>C (p.Thr81=) rs2290943 0.15958
NM_000090.4(COL3A1):c.1851G>A (p.Gln617=) rs7579903 0.15955
NM_000093.5(COL5A1):c.1720-47C>T rs79679217 0.15948
NM_001394062.1(MACF1):c.13054A>G (p.Met4352Val) rs2296172 0.15947
NM_133459.4(CCBE1):c.*2020C>T rs113599524 0.15943
NM_052859.4(RFT1):c.*622C>G rs7645611 0.15942
NM_001394062.1(MACF1):c.10816-7T>A rs16826093 0.15940
NM_152564.5(VPS13B):c.9492T>C (p.Ser3164=) rs36074608 0.15932
NM_001303.4(COX10):c.*757T>C rs1802618 0.15929
NC_000019.10:g.46601278T>A rs150954567 0.15904
NM_001083962.2(TCF4):c.305-165C>T rs17522826 0.15868
NM_003630.3(PEX3):c.*546A>G rs10809 0.15859
NM_001851.6(COL9A1):c.1230+12T>C rs6935778 0.15856
NM_006147.3(IRF6):c.-302A>T rs12403006 0.15850
NM_001308093.3(GATA4):c.*852G>A rs804290 0.15840
NM_016277.5(RAB23):c.*2273T>C rs12211901 0.15833
NM_001025389.2(AMPD3):c.*1070A>G rs7416 0.15810
NM_007055.4(POLR3A):c.*1763G>A rs4979935 0.15801
NM_001303.4(COX10):c.*322T>C rs11078233 0.15800
NM_001371623.1(TCOF1):c.3530C>G (p.Pro1177Arg) rs1136103 0.15799
NM_002427.4(MMP13):c.799+8G>A rs3819089 0.15782
NM_000059.4(BRCA2):c.-52A>G rs206118 0.15771
NM_000257.4(MYH7):c.1128C>T (p.Asp376=) rs2231126 0.15761
NM_005559.4(LAMA1):c.4026T>G (p.Val1342=) rs73938538 0.15758
NM_194318.4(B3GLCT):c.*36A>G rs112937254 0.15709
NM_001378615.1(CC2D2A):c.124-6C>T rs1861049 0.15686
NM_018718.3(CEP41):c.*1931C>T rs17133175 0.15684
NM_003924.4(PHOX2B):c.*674dup rs397840867 0.15674
NM_001104631.2(PDE4D):c.*2653del rs138669344 0.15668
NM_139057.4(ADAMTS17):c.1445T>C (p.Met482Thr) rs28567966 0.15651
NM_012062.5(DNM1L):c.252G>A (p.Gly84=) rs2272238 0.15635
NM_001040436.3(YARS2):c.*209G>C rs10844337 0.15609
NM_012062.5(DNM1L):c.*21G>C rs1059422 0.15548
NM_025074.7(FRAS1):c.-23C>T rs34237418 0.15546
NM_012062.5(DNM1L):c.*22A>T rs3200103 0.15544
NM_001203.3(BMPR1B):c.*3255C>G rs2162449 0.15534
NM_000057.4(BLM):c.3945C>T (p.Leu1315=) rs1063147 0.15526
NM_000057.4(BLM):c.3531C>A (p.Ala1177=) rs2227934 0.15517
NC_000006.12:g.50847620G>T rs67092917 0.15514
NM_024996.7(GFM1):c.1323+83A>G rs2291595 0.15507
NM_033004.4(NLRP1):c.114G>C (p.Ser38=) rs884367 0.15491
NM_000789.4(ACE):c.582C>T (p.Asn194=) rs4298 0.15457
NM_006371.5(CRTAP):c.213G>A (p.Leu71=) rs11558338 0.15448
NM_004380.3(CREBBP):c.3837-8C>T rs3025684 0.15427
NM_020529.3(NFKBIA):c.306C>T (p.Ala102=) rs1050851 0.15413
NM_022039.4(FBXW4):c.461T>A (p.Val154Glu) rs61382490 0.15406
NM_000264.5(PTCH1):c.1686C>T (p.Ala562=) rs2066836 0.15395
NM_022836.4(DCLRE1B):c.234T>C (p.His78=) rs3761936 0.15394
NM_000368.5(TSC1):c.965T>C (p.Met322Thr) rs1073123 0.15387
NM_004525.3(LRP2):c.11601T>C (p.Cys3867=) rs2229268 0.15380
NM_024426.6(WT1):c.345C>T (p.Pro115=) rs1799925 0.15374
NM_001813.3(CENPE):c.6269C>T (p.Thr2090Met) rs2243682 0.15371
NM_001278689.2(EOGT):c.912T>C (p.Tyr304=) rs13085120 0.15363
NM_001122681.2(SH3BP2):c.*2912C>T rs10924 0.15361
NM_014141.6(CNTNAP2):c.*4738C>G rs10251347 0.15342
NM_022836.4(DCLRE1B):c.181C>T (p.His61Tyr) rs11552449 0.15327
NM_001174147.2(LMX1B):c.*1992T>C rs34776870 0.15317
NM_139125.4(MASP1):c.1335C>T (p.Ser445=) rs3774268 0.15314
NM_001142966.3(GREB1L):c.5541T>C (p.Ser1847=) rs17720074 0.15290
NM_001034852.3(SMOC1):c.858-19C>A rs57609901 0.15288
NM_020754.4(ARHGAP31):c.1701G>A (p.Pro567=) rs2305249 0.15274
NM_001128159.3(VPS53):c.1867-71T>C rs12951098 0.15268
NM_022455.5(NSD1):c.2176T>C (p.Ser726Pro) rs28932178 0.15259
NM_001025389.2(AMPD3):c.-88G>T rs28403593 0.15242
NM_006662.3(SRCAP):c.493-20C>T rs72793372 0.15242
NM_000219.6(KCNE1):c.*132A>G rs41314071 0.15224
NM_000093.5(COL5A1):c.1827+45G>A rs11103502 0.15221
NM_001034852.3(SMOC1):c.857+32C>T rs34311408 0.15221
NM_005996.4(TBX3):c.-198T>C rs12366395 0.15221
NM_001034852.3(SMOC1):c.702C>T (p.Ala234=) rs3825739 0.15211
NM_001379081.2(FREM1):c.3606C>G (p.Ser1202Arg) rs16932300 0.15197
NM_152558.5(IQCE):c.1760G>A (p.Arg587His) rs10950797 0.15186
NM_001371986.1(UNC80):c.3250+46C>A rs9288414 0.15170
NM_014423.4(AFF4):c.3143+20G>A rs45441396 0.15163
NM_020529.3(NFKBIA):c.636+17C>T rs2233419 0.15155
NM_022369.4(STRA6):c.331C>T (p.Leu111=) rs11857410 0.15148
NM_001393392.1(AKR1C2):c.441A>G (p.Thr147=) rs3207909 0.15144
NM_001369268.1(ACAN):c.2591C>T (p.Pro864Leu) rs3743398 0.15133
NM_000059.4(BRCA2):c.*105A>C rs15869 0.15131
NM_015335.5(MED13L):c.3070T>C (p.Leu1024=) rs1865787 0.15121
NM_001174147.2(LMX1B):c.*1997G>A rs35632228 0.15118
NM_001384732.1(CPLANE1):c.5901-3T>C rs10805625 0.15103
NM_198965.2(PTHLH):c.-22-36A>T rs6242 0.15071
NM_005120.3(MED12):c.3354+27G>C rs5030617 0.15058
NC_000001.11:g.39084311G>A rs3736890 0.15057
NM_152281.3(GORAB):c.*47T>G rs7552922 0.15016
NM_006939.4(SOS2):c.3490-18A>C rs79858475 0.14981
NM_138295.5(PKD1L1):c.7347-5T>C rs73103467 0.14955
NM_001365276.2(TNXB):c.2761T>G (p.Ser921Ala) rs204900 0.14952
NM_015335.5(MED13L):c.5928T>C (p.Thr1976=) rs2304460 0.14937
NM_133259.4(LRPPRC):c.1068A>G (p.Gln356=) rs4953042 0.14931
NC_000011.10:g.31787522C>T rs662702 0.14929
NM_015443.4(KANSL1):c.1011C>G (p.Ser337=) rs2240758 0.14928
NM_144966.5(FREM1):c.*2207G>A rs7047712 0.14899
NM_005262.3(GFER):c.456-83C>T rs72766615 0.14880
NM_017636.4(TRPM4):c.268-23G>A rs68004247 0.14813
NM_001378778.1(MPDZ):c.1074A>G (p.Thr358=) rs13297480 0.14798
NM_001083961.2(WDR62):c.186C>T (p.Leu62=) rs11538454 0.14792
NM_024757.5(EHMT1):c.1044G>A (p.Ser348=) rs1129767 0.14787
NM_005529.7(HSPG2):c.11992+23G>A rs12023794 0.14776
NM_016277.5(RAB23):c.*3330A>G rs72868608 0.14761
NM_021922.3(FANCE):c.1504G>A (p.Ala502Thr) rs9462088 0.14730
NM_024596.5(MCPH1):c.1428C>T (p.Phe476=) rs2920676 0.14726
NM_001351132.2(PEX5):c.*141G>A rs3813737 0.14722
NM_005529.7(HSPG2):c.12992G>A (p.Ser4331Asn) rs3736360 0.14722
NM_001330078.2(NRXN1):c.*110G>A rs1045881 0.14719
NM_024426.6(WT1):c.*88A>G rs5030315 0.14706
NM_020771.4(HACE1):c.2014+27A>G rs7741145 0.14695
NM_015443.4(KANSL1):c.741A>G (p.Arg247=) rs1881193 0.14687
NM_000352.6(ABCC8):c.2485C>T (p.Leu829=) rs1805036 0.14682
NM_000219.6(KCNE1):c.*578T>C rs16991703 0.14679
NM_000257.4(MYH7):c.5106G>A (p.Ala1702=) rs3729830 0.14676
NM_002334.3(LRP4):c.-188C>T rs111383894 0.14671
NM_021922.3(FANCE):c.1316+19G>A rs6457823 0.14669
NM_000203.5(IDUA):c.1524+41G>T rs188458034 0.14666
NM_017827.4(SARS2):c.321G>A (p.Glu107=) rs11544093 0.14659
NM_017780.4(CHD7):c.6103+8C>T rs3763592 0.14641
NM_016169.4(SUFU):c.1299T>C (p.Ile433=) rs17114803 0.14628
NM_005045.4(RELN):c.9443+45C>A rs17151558 0.14621
NM_001379081.2(FREM1):c.4617G>A (p.Ala1539=) rs2131880 0.14595
NM_002465.4(MYBPC1):c.1518C>G (p.His506Gln) rs3817552 0.14585
NM_015443.4(KANSL1):c.696C>T (p.Ser232=) rs1881194 0.14580
NM_001291303.3(FAT4):c.6585T>C (p.Asn2195=) rs17009618 0.14565
NM_005633.4(SOS1):c.*805C>A rs1059313 0.14564
NM_001040436.3(YARS2):c.*643G>A rs11052214 0.14502
NM_152558.5(IQCE):c.405T>C (p.Pro135=) rs61739566 0.14502
NM_018062.4(FANCL):c.375-49C>G rs1404459 0.14499
NM_000112.4(SLC26A2):c.*5338T>C rs17711997 0.14477
NM_015443.4(KANSL1):c.2152T>C (p.Ser718Pro) rs34043286 0.14471
NM_015443.4(KANSL1):c.2580T>C (p.Phe860=) rs17574604 0.14470
NM_001379081.2(FREM1):c.5859T>C (p.Val1953=) rs4741426 0.14468
NM_015443.4(KANSL1):c.3254T>C (p.Ile1085Thr) rs34579536 0.14468
NM_001025389.2(AMPD3):c.573G>A (p.Pro191=) rs16907852 0.14463
NM_000475.5(NR0B1):c.114C>T (p.Cys38=) rs6150 0.14452
NM_021625.5(TRPV4):c.2034C>T (p.Ile678=) rs3742037 0.14446
NM_015443.4(KANSL1):c.2742C>T (p.Asp914=) rs35833914 0.14434
NM_138295.5(PKD1L1):c.8053G>A (p.Ala2685Thr) rs13231277 0.14434
NM_001271938.2(MEGF8):c.2430T>C (p.Asn810=) rs28621009 0.14431
NM_006346.4(PIBF1):c.672+38G>A rs9543124 0.14429
NM_015443.4(KANSL1):c.2751C>T (p.Phe917=) rs36076725 0.14426
NM_001852.4(COL9A2):c.630+13G>T rs3737815 0.14424
NM_001374828.1(ARID1B):c.4383-7A>G rs112318565 0.14423
NM_001797.4(CDH11):c.825G>A (p.Met275Ile) rs1130821 0.14418
NM_025074.7(FRAS1):c.10153T>G (p.Tyr3385Asp) rs35933858 0.14412
NM_025074.7(FRAS1):c.9252G>T (p.Arg3084=) rs11933630 0.14408
NM_001148.6(ANK2):c.8503C>T (p.Pro2835Ser) rs3733617 0.14405
NM_001330078.2(NRXN1):c.*1327C>G rs12998798 0.14393
NM_022114.4(PRDM16):c.1898C>T (p.Pro633Leu) rs2493292 0.14386
NM_014846.4(WASHC5):c.3291G>A (p.Ala1097=) rs11542889 0.14383
NM_144966.5(FREM1):c.*1784A>G rs10756607 0.14364
NM_012062.5(DNM1L):c.120A>C (p.Ser40=) rs10844308 0.14357
NM_022114.4(PRDM16):c.2603+20C>T rs2493291 0.14355
NM_001040436.3(YARS2):c.291C>T (p.Gly97=) rs11539444 0.14354
NM_025074.7(FRAS1):c.10389+11C>T rs74632598 0.14352
NM_006031.6(PCNT):c.9394-4T>C rs2839260 0.14350
NM_012062.5(DNM1L):c.918A>G (p.Thr306=) rs10844318 0.14349
NM_025074.7(FRAS1):c.10683A>T (p.Glu3561Asp) rs931605 0.14336
NM_001040436.3(YARS2):c.572G>T (p.Gly191Val) rs11539445 0.14334
NM_015272.5(RPGRIP1L):c.3428C>G (p.Thr1143Ser) rs111775292 0.14328
NM_000368.5(TSC1):c.*1934A>G rs10491534 0.14325
NM_000126.4(ETFA):c.39+12C>G rs62027051 0.14273
NM_006796.3(AFG3L2):c.-96G>C rs12327346 0.14255
NM_001999.4(FBN2):c.111G>A (p.Pro37=) rs55715053 0.14249
NM_001159773.2(CANT1):c.*1440G>A rs4861 0.14246
NM_001083961.2(WDR62):c.2271G>A (p.Leu757=) rs61494900 0.14221
NM_020639.3(RIPK4):c.159G>A (p.Ser53=) rs6586238 0.14219
NM_080680.3(COL11A2):c.877-34C>T rs116165521 0.14216
NM_001114753.3(ENG):c.207G>A (p.Leu69=) rs11545664 0.14184
NM_000414.4(HSD17B4):c.1531T>C (p.Trp511Arg) rs11539471 0.14167
NM_170784.3(MKKS):c.1549C>T (p.Arg517Cys) rs1547 0.14159
NM_170784.3(MKKS):c.1595G>T (p.Gly532Val) rs1545 0.14147
NM_024757.5(EHMT1):c.3375-9A>C rs73578877 0.14146
NM_000302.4(PLOD1):c.358G>T (p.Ala120Ser) rs2273285 0.14145
NM_170784.3(MKKS):c.*435G>A rs6108549 0.14136
NM_000093.5(COL5A1):c.4122G>A (p.Thr1374=) rs3827848 0.14130
NM_003738.5(PTCH2):c.2487C>T (p.Asp829=) rs2295996 0.14124
NM_170784.3(MKKS):c.*392T>C rs2294901 0.14121
NM_022336.4(EDAR):c.*935C>T rs3749096 0.14095
NM_012233.3(RAB3GAP1):c.1793A>G (p.Asn598Ser) rs10445686 0.14088
NM_170784.3(MKKS):c.534C>T (p.Ile178=) rs17852625 0.14082
NM_004782.4(SNAP29):c.*521T>A rs361998 0.14080
NM_170784.3(MKKS):c.985+16T>G rs6133917 0.14080
NM_001953.5(TYMP):c.1284T>A (p.Gly428=) rs1138404 0.14075
NM_207361.6(FREM2):c.5518C>T (p.Arg1840Trp) rs9603422 0.14074
NM_002470.4(MYH3):c.3348T>C (p.Ile1116=) rs201626 0.14064
NM_000393.5(COL5A2):c.852+14C>T rs56310996 0.14063
NM_001174147.2(LMX1B):c.*898C>T rs10760450 0.14051
NM_001854.4(COL11A1):c.275-7T>C rs12136865 0.14046
NM_001079872.2(CUL4B):c.1174-20G>A rs5957408 0.14035
NM_002734.5(PRKAR1A):c.*870G>A rs8082254 0.14031
NM_001083961.2(WDR62):c.3468C>T (p.Leu1156=) rs17851502 0.14024
NM_001999.4(FBN2):c.6511+15A>G rs56131649 0.14023
NM_001083961.2(WDR62):c.1643-10C>T rs4806263 0.14010
NM_003244.4(TGIF1):c.420A>G (p.Pro140=) rs2229337 0.13985
NM_001369268.1(ACAN):c.3351C>T (p.Thr1117=) rs530742363 0.13982
NM_001379081.2(FREM1):c.2073C>T (p.Ser691=) rs12236053 0.13982
NM_000046.5(ARSB):c.691-22T>C rs6870443 0.13972
NM_001813.3(CENPE):c.5502G>A (p.Thr1834=) rs1381658 0.13921
NM_020639.3(RIPK4):c.360A>C (p.Arg120=) rs13049286 0.13916
NM_025136.4(OPA3):c.*5523G>A rs57585727 0.13908
NM_005327.7(HADH):c.-38T>C rs17550794 0.13904
NM_020639.3(RIPK4):c.327T>C (p.Ala109=) rs2277791 0.13904
NM_030662.4(MAP2K2):c.453C>T (p.Asp151=) rs17851657 0.13902
NM_000088.4(COL1A1):c.104-441G>T rs1800012 0.13897
NM_206937.2(LIG4):c.1704T>C (p.Asp568=) rs1805386 0.13864
NM_000257.4(MYH7):c.1095G>A (p.Lys365=) rs735711 0.13859
NM_006371.5(CRTAP):c.*2147A>G rs4355234 0.13787
NM_000478.6(ALPL):c.793-31C>T rs1256328 0.13784
NM_004415.4(DSP):c.4535A>G (p.Tyr1512Cys) rs2076299 0.13777
NM_005559.4(LAMA1):c.5288C>T (p.Ala1763Val) rs12607841 0.13777
NM_000219.6(KCNE1):c.*1322A>G rs11700621 0.13749
NM_000503.6(EYA1):c.1278C>T (p.Gly426=) rs4738118 0.13734
NM_006031.6(PCNT):c.6594T>C (p.Gly2198=) rs57108405 0.13713
NM_001378615.1(CC2D2A):c.2182-24C>T rs2041673 0.13698
NM_017583.6(TRIM44):c.670-27G>C rs3740798 0.13698
NM_002618.4(PEX13):c.*1194G>A rs75205376 0.13689
NM_002541.4(OGDH):c.2973G>A (p.Ala991=) rs2070606 0.13683
NM_024426.6(WT1):c.*224A>G rs5030316 0.13669
NM_002465.4(MYBPC1):c.-75G>T rs1697477 0.13668
NM_000020.3(ACVRL1):c.*1926T>C rs2293094 0.13660
NM_032888.4(COL27A1):c.4152+24C>A rs10817583 0.13647
NM_006031.6(PCNT):c.2415C>G (p.Ala805=) rs61407822 0.13635
NM_000141.5(FGFR2):c.-157A>G rs41258305 0.13622
NM_153240.5(NPHP3):c.3759G>A (p.Leu1253=) rs6794496 0.13621
NM_000925.4(PDHB):c.935-146G>C rs6445980 0.13601
NM_025074.7(FRAS1):c.*1814G>A rs17003321 0.13590
NM_001942.4(DSG1):c.2522A>T (p.Tyr841Phe) rs3752095 0.13571
NM_004614.5(TK2):c.619-53A>G rs2241619 0.13547
NM_001999.4(FBN2):c.*1277G>A rs7288 0.13531
NM_000348.4(SRD5A2):c.*849A>G rs9332975 0.13522
NM_001025389.2(AMPD3):c.-82T>G rs58115104 0.13519
NM_018006.5(TRMU):c.28G>T (p.Ala10Ser) rs11090865 0.13476
NM_005529.7(HSPG2):c.10831-4G>A rs17459139 0.13467
NM_018451.5(CENPJ):c.*404C>T rs77868928 0.13457
NM_005529.7(HSPG2):c.10617C>T (p.Val3539=) rs2229492 0.13438
NM_018668.5(VPS33B):c.1105+9C>T rs3826033 0.13431
NM_000088.4(COL1A1):c.1930-14T>C rs2696247 0.13425
NM_003184.4(TAF2):c.23C>T (p.Pro8Leu) rs17818842 0.13424
NM_014244.5(ADAMTS2):c.1516-138A>G rs11746123 0.13423
NM_025136.4(OPA3):c.*638T>A rs150575877 0.13416
NM_018714.3(COG1):c.1473C>T (p.Ser491=) rs1551036 0.13412
NM_000512.5(GALNS):c.244+19C>T rs35137494 0.13406
NM_003193.5(TBCE):c.560+5G>A rs12757197 0.13398
NM_005529.7(HSPG2):c.11992+35A>G rs12042189 0.13391
NM_025152.3(NUBPL):c.514-32A>G rs7159193 0.13387
NM_003334.4(UBA1):c.1340G>A (p.Arg447His) rs2070169 0.13373
NM_001083961.2(WDR62):c.1470C>T (p.Asp490=) rs45567532 0.13368
NM_014846.4(WASHC5):c.187-3C>T rs16900368 0.13363
NM_001851.6(COL9A1):c.1612-26C>A rs13219431 0.13355
NM_005327.7(HADH):c.257= (p.Leu86=) rs4956145 0.13339
NM_004565.3(PEX14):c.1032G>T (p.Gly344=) rs11539794 0.13336
NM_024757.5(EHMT1):c.1501+13G>T rs3125794 0.13335
NM_001382391.1(CSPP1):c.2392-17C>T rs58448590 0.13329
NM_000090.4(COL3A1):c.1293+15T>A rs2271679 0.13320
NM_014846.4(WASHC5):c.417+11A>G rs2384917 0.13320
NM_001377299.1(NDUFS2):c.*114A>G rs1136224 0.13305
NC_000002.12:g.174764872T>C rs16862847 0.13301
NM_001042631.3(SDHAF1):c.*622A>G rs7925 0.13298
NM_024426.6(WT1):c.609C>T (p.Asn203=) rs2234583 0.13287
NM_001999.4(FBN2):c.8274C>T (p.Ser2758=) rs10070365 0.13267
NM_001039958.2(MESP2):c.573G>A (p.Gly191=) rs113097169 0.13255
NM_000020.3(ACVRL1):c.1378-699C>T rs74094825 0.13248
NM_019023.5(PRMT7):c.1638C>T (p.Asp546=) rs61746794 0.13248
NM_005592.4(MUSK):c.537C>T (p.Asn179=) rs41279051 0.13243
NM_020754.4(ARHGAP31):c.2778G>A (p.Ala926=) rs61740281 0.13242
NM_173660.5(DOK7):c.101-11G>A rs2344209 0.13238
NM_019023.5(PRMT7):c.1276-18G>A rs7190134 0.13231
NM_024596.5(MCPH1):c.2045C>A (p.Thr682Asn) rs12674488 0.13225
NM_003070.5(SMARCA2):c.-5G>A rs10964468 0.13219
NM_022458.4(LMBR1):c.*2089G>A rs17837686 0.13188
NM_152383.5(DIS3L2):c.2646A>G (p.Ser882=) rs3811578 0.13184
NM_004614.5(TK2):c.*2221T>C rs3743712 0.13149
NM_006265.3(RAD21):c.1440T>C (p.Ala480=) rs1050838 0.13137
NM_025152.3(NUBPL):c.*122G>C rs4981131 0.13131
NM_001082486.2(ACD):c.1298+20C>A rs67114979 0.13128
NM_003193.5(TBCE):c.*142T>A rs7537 0.13128
NM_004614.5(TK2):c.*765T>C rs880530 0.13122
NM_000093.5(COL5A1):c.1936-35C>A rs10858278 0.13121
NM_006129.5(BMP1):c.2688C>T (p.Ala896=) rs4076619 0.13111
NM_014244.5(ADAMTS2):c.534+50T>C rs2271214 0.13091
NM_001368809.2(AMPD2):c.82G>A (p.Ala28Thr) rs28362581 0.13084
NM_133433.4(NIPBL):c.5874C>T (p.Ser1958=) rs61748200 0.13068
NM_015107.3(PHF8):c.2650-35C>G rs7886772 0.13065
NM_052989.3(IFT122):c.740+15G>A rs56379561 0.13063
NM_001136193.2(FASTKD2):c.*3005A>G rs1001805 0.13062
NM_000393.5(COL5A2):c.568-10G>A rs58106884 0.13056
NM_001863.5(COX6B1):c.42C>T (p.Thr14=) rs7991 0.13052
NM_000393.5(COL5A2):c.337-26T>C rs56380683 0.13043
NM_152558.5(IQCE):c.1725G>T (p.Val575=) rs2293405 0.13038
NM_014317.5(PDSS1):c.*76C>T rs12776877 0.13025
NM_002734.5(PRKAR1A):c.*1212T>G rs8905 0.13021
NM_006371.5(CRTAP):c.*3142G>A rs12635415 0.13012
NM_001330677.2(TBX15):c.466C>A (p.His156Asn) rs10494217 0.13004
NM_002615.7(SERPINF1):c.644-14A>T rs3891224 0.12986
NM_024675.4(PALB2):c.1676A>G (p.Gln559Arg) rs152451 0.12980
NM_016013.4(NDUFAF1):c.941C>G (p.Ala314Gly) rs12900702 0.12962
NM_002334.4(LRP4):c.4905C>T (p.Phe1635=) rs2290883 0.12958
NM_002334.4(LRP4):c.3608C>T (p.Ala1203Val) rs2306033 0.12951
NM_002470.4(MYH3):c.349-36A>G rs2285467 0.12931
NM_000020.3(ACVRL1):c.*869C>T rs113690319 0.12912
NM_001378615.1(CC2D2A):c.2830-38G>T rs35309200 0.12892
NM_001365276.2(TNXB):c.7483G>A (p.Gly2495Ser) rs2269429 0.12889
NM_000020.3(ACVRL1):c.*913C>T rs75074181 0.12876
NM_003119.4(SPG7):c.1507A>G (p.Thr503Ala) rs2292954 0.12849
NM_014704.4(CEP104):c.566+6A>T rs72848418 0.12842
NM_001853.4(COL9A3):c.50G>A (p.Gly17Glu) rs2294984 0.12823
NM_003119.4(SPG7):c.2063G>A (p.Arg688Gln) rs12960 0.12801
NM_001382391.1(CSPP1):c.2630G>A (p.Arg877His) rs16933182 0.12797
NM_025074.7(FRAS1):c.10877T>C (p.Val3626Ala) rs34670941 0.12788
NM_022455.5(NSD1):c.1749G>A (p.Glu583=) rs3733874 0.12785
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=) rs1800358 0.12784
NM_001148.6(ANK2):c.9648A>G (p.Glu3216=) rs10013743 0.12780
NM_001379081.2(FREM1):c.2587C>G (p.Leu863Val) rs7041710 0.12780
NM_005120.3(MED12):c.2422+30C>T rs2075790 0.12776
NM_003640.5(ELP1):c.1750+124C>T rs17792422 0.12773
NM_000891.3(KCNJ2):c.1146C>T (p.Leu382=) rs173135 0.12771
NM_001042492.3(NF1):c.6642+45T>A rs17883614 0.12771
NM_003477.3(PDHX):c.-4C>G rs3818401 0.12767
NM_000685.5(AGTR1):c.1062A>G (p.Pro354=) rs5183 0.12761
NM_005529.7(HSPG2):c.9766C>T (p.His3256Tyr) rs2291827 0.12760
NM_001814.6(CTSC):c.458= (p.Ile153=) rs217086 0.12743
NM_173208.3(TGIF1):c.-462G>A rs2238538 0.12741
NM_025074.7(FRAS1):c.*1301G>A rs3210826 0.12730
NM_024426.6(WT1):c.1265-32C>A rs2234593 0.12726
NM_000501.4(ELN):c.*1194A>G rs10233395 0.12697
NM_005159.4(ACTC1):c.*472T>C rs1370155 0.12694
NM_138959.3(VANGL1):c.346G>A (p.Ala116Thr) rs4839469 0.12684
NM_020461.4(TUBGCP6):c.4090A>T (p.Ser1364Cys) rs5771107 0.12667
NM_021625.5(TRPV4):c.789T>C (p.Asp263=) rs3742034 0.12664
NM_001853.4(COL9A3):c.909G>A (p.Pro303=) rs2249903 0.12661
NM_001148.6(ANK2):c.7106T>C (p.Val2369Ala) rs28377576 0.12654
NM_022455.5(NSD1):c.1840G>T (p.Val614Leu) rs3733875 0.12636
NM_052989.3(IFT122):c.1654-12C>T rs112066509 0.12634
NM_000264.5(PTCH1):c.1665T>C (p.Asn555=) rs1805155 0.12597
NM_001122681.2(SH3BP2):c.417C>G (p.Pro139=) rs16843413 0.12581
NM_018451.5(CENPJ):c.*639T>C rs61947515 0.12574
NM_006031.6(PCNT):c.1616C>T (p.Thr539Ile) rs2249060 0.12572
NM_000208.4(INSR):c.1932A>C (p.Pro644=) rs2245655 0.12535
NM_021224.6(ZNF462):c.1210A>G (p.Met404Val) rs17723637 0.12532
NM_152558.5(IQCE):c.1904G>A (p.Arg635Lys) rs61729413 0.12529
NM_017780.4(CHD7):c.6276G>A (p.Glu2092=) rs2068096 0.12528
NM_025215.6(PUS1):c.-182C>T rs61942438 0.12527
NM_017583.6(TRIM44):c.*23A>G rs61881297 0.12522
NM_000208.4(INSR):c.1862-4A>G rs2245649 0.12510
NM_000208.4(INSR):c.1918C>T (p.Leu640=) rs2963 0.12510
NM_004629.1(FANCG):c.-453_-452insT rs16935545 0.12501
NM_001164508.2(NEB):c.7957-152C>T rs28375835 0.12498
NM_000169.3(GLA):c.640-16A>G rs2071397 0.12447
NM_001136193.2(FASTKD2):c.*2069T>A rs2193885 0.12437
NM_005559.4(LAMA1):c.6345+7T>C rs10164200 0.12418
NM_001174147.2(LMX1B):c.*1393G>T rs13299451 0.12409
NM_024312.5(GNPTAB):c.204-103G>T rs11111024 0.12389
NM_000466.3(PEX1):c.-137T>C rs12386601 0.12381
NM_058195.4(CDKN2A):c.193+9477T>G rs3731217 0.12347
NM_006757.4(TNNT3):c.762C>T (p.Gly254=) rs4727 0.12344
NM_000046.5(ARSB):c.1126G>A (p.Val376Met) rs1071598 0.12316
NM_030777.4(SLC2A10):c.616G>A (p.Ala206Thr) rs2235491 0.12316
NM_000089.4(COL1A2):c.87T>C (p.Thr29=) rs1801182 0.12315
NM_001082486.2(ACD):c.413+3A>G rs8058187 0.12302
NM_001159773.2(CANT1):c.-23+25G>A rs3744171 0.12298
NM_001159773.2(CANT1):c.*847C>T rs11891 0.12297
NM_001136193.2(FASTKD2):c.44G>A (p.Ser15Asn) rs3762568 0.12294
NM_001005498.4(RHBDF2):c.-14G>A rs12943385 0.12261
NM_004525.3(LRP2):c.7626C>G (p.Arg2542=) rs13397109 0.12249
NM_017617.5(NOTCH1):c.852G>A (p.Pro284=) rs2229975 0.12249
NM_001194998.2(CEP152):c.-24A>T rs62621137 0.12224
NM_001194998.2(CEP152):c.-25C>A rs185424999 0.12222
NM_001194998.2(CEP152):c.-26A>T rs35871801 0.12222
NM_005592.4(MUSK):c.475A>G (p.Ser159Gly) rs35176182 0.12204
NM_020320.5(RARS2):c.1704A>G (p.Lys568=) rs8802 0.12189
NM_145068.4(TRPV3):c.*3154C>T rs2271156 0.12176
NM_000719.7(CACNA1C):c.4233-121A>G rs45555233 0.12174
NM_003070.5(SMARCA2):c.1827A>G (p.Pro609=) rs13288443 0.12157
NM_000088.4(COL1A1):c.642+18A>C rs16948767 0.12150
NM_001136193.2(FASTKD2):c.-184C>T rs3762567 0.12134
NM_003070.5(SMARCA2):c.1347+16_1347+17insT rs150124430 0.12134
NM_133433.4(NIPBL):c.2021A>G (p.Asn674Ser) rs3822471 0.12117
NM_133433.4(NIPBL):c.3575-17A>G rs78827246 0.12109
NM_017617.5(NOTCH1):c.6180+44T>C rs9632944 0.12085
NM_012082.4(ZFPM2):c.3207C>T (p.His1069=) rs11995760 0.11999
NM_001354604.2(MITF):c.*48T>C rs9863910 0.11996
NM_001369268.1(ACAN):c.824G>A (p.Arg275Gln) rs34949187 0.11995
NM_020964.3(EPG5):c.544A>G (p.Lys182Glu) rs59422275 0.11994
NM_012082.4(ZFPM2):c.1362A>G (p.Pro454=) rs920628 0.11991
NM_020754.4(ARHGAP31):c.3615C>T (p.Pro1205=) rs3732414 0.11988
NM_001377299.1(NDUFS2):c.1290C>T (p.Ala430=) rs1136207 0.11971
NM_000104.4(CYP1B1):c.1358A>G (p.Asn453Ser) rs1800440 0.11965
NM_025114.4(CEP290):c.2055T>C (p.Ala685=) rs45465996 0.11965
NM_000135.4(FANCA):c.1006+112G>A rs17226075 0.11964
NM_000368.5(TSC1):c.*4437G>A rs11553763 0.11942
NM_001194998.2(CEP152):c.-94A>G rs2304546 0.11928
NM_000135.4(FANCA):c.1083+120G>A rs17226159 0.11919
NM_152564.5(VPS13B):c.10219G>A (p.Gly3407Arg) rs6468694 0.11916
NM_004550.5(NDUFS2):c.-388G>T rs3813623 0.11879
NM_000208.4(INSR):c.783C>T (p.Asp261=) rs891087 0.11869
NM_002635.4(SLC25A3):c.*211T>A rs76488843 0.11857
NM_016277.5(RAB23):c.619G>A (p.Gly207Ser) rs1040461 0.11850
NM_181458.4(PAX3):c.1174-10G>C rs2855268 0.11848
NM_000288.4(PEX7):c.-56C>T rs73777751 0.11791
NM_000135.4(FANCA):c.2602-36G>T rs2159116 0.11784
NM_006031.6(PCNT):c.3487C>T (p.Arg1163Cys) rs7279204 0.11770
NM_006371.5(CRTAP):c.*1582C>A rs1137463 0.11766
NM_025074.7(FRAS1):c.1617A>G (p.Arg539=) rs345528 0.11760
NM_032208.3(ANTXR1):c.642+99T>C rs7424907 0.11724
NM_001122681.2(SH3BP2):c.586+8G>A rs28516876 0.11718
NM_206937.2(LIG4):c.*1035G>A rs10131 0.11700
NM_004544.4(NDUFA10):c.5C>G (p.Ala2Gly) rs11541494 0.11689
NM_002335.4(LRP5):c.2220C>T (p.Asn740=) rs2306862 0.11683
NM_002335.4(LRP5):c.1015+15C>T rs201268200 0.11677
NM_015713.5(RRM2B):c.*732A>G rs16869269 0.11676
NM_004544.4(NDUFA10):c.*308C>T rs8369 0.11658
NM_024009.3(GJB3):c.*43C>A rs41266429 0.11622
NM_001379081.2(FREM1):c.4504G>A (p.Val1502Met) rs10961700 0.11621
NM_015443.4(KANSL1):c.311A>C (p.Lys104Thr) rs17585974 0.11620
NM_004531.5(MOCS2):c.*1011G>A rs1445940 0.11615
NM_004531.5(MOCS2):c.*1872C>T rs77227647 0.11611
NM_015443.4(KANSL1):c.414T>G (p.Leu138=) rs17662889 0.11611
NM_015713.5(RRM2B):c.*866T>G rs29000286 0.11598
NM_032208.3(ANTXR1):c.492+10G>A rs10202939 0.11594
NM_015443.4(KANSL1):c.673A>G (p.Asn225Asp) rs35643216 0.11593
NM_001164508.2(NEB):c.12018+29G>A rs11902616 0.11589
NM_015713.5(RRM2B):c.*1673T>G rs16918482 0.11578
NM_000199.5(SGSH):c.89-45G>A rs9900509 0.11554
NM_000478.6(ALPL):c.*388C>T rs2242420 0.11550
NM_025132.4(WDR19):c.852A>G (p.Ser284=) rs17584431 0.11533
NM_032208.3(ANTXR1):c.413-61G>A rs548701918 0.11514
NM_032208.3(ANTXR1):c.413-65_413-63del rs67110959 0.11512
NM_032208.3(ANTXR1):c.413-67G>C rs57008189 0.11511
NM_006265.3(RAD21):c.688+8G>A rs2921787 0.11506
NM_030665.4(RAI1):c.4311T>C (p.Pro1437=) rs4925112 0.11504
NM_001853.4(COL9A3):c.93C>A (p.Pro31=) rs2273078 0.11502
NM_001378183.1(PIEZO2):c.6488C>A (p.Ala2163Asp) rs113682091 0.11487
NM_020461.4(TUBGCP6):c.4821+20G>A rs11912397 0.11469
NM_017617.5(NOTCH1):c.2740+12C>T rs36119806 0.11457
NM_003002.4(SDHD):c.315-32T>C rs4151637 0.11444
NM_001203.3(BMPR1B):c.*2332T>A rs73839218 0.11440
NM_018451.5(CENPJ):c.*398A>G rs11620289 0.11436
NM_004544.4(NDUFA10):c.*2309G>A rs1132778 0.11433
NM_003002.4(SDHD):c.170-29A>G rs9919624 0.11431
NM_003002.4(SDHD):c.204C>T (p.Ser68=) rs9919552 0.11428
NM_001203.3(BMPR1B):c.*641C>T rs17023107 0.11418
NM_000431.4(MVK):c.155G>A (p.Ser52Asn) rs7957619 0.11415
NM_025136.4(OPA3):c.*5525C>T rs117230006 0.11413
NM_000147.4(FUCA1):c.-12T>C rs2070954 0.11405
NM_001128225.3(SLC39A13):c.58A>G (p.Thr20Ala) rs61897432 0.11400
NM_017791.2(FLVCR2):c.-356G>C rs3813550 0.11387
NM_018718.3(CEP41):c.*3887C>G rs62471754 0.11370
NM_020312.4(COQ9):c.*456C>A rs223869 0.11358
NM_006031.6(PCNT):c.8811A>G (p.Thr2937=) rs17371795 0.11349
NM_006129.5(BMP1):c.1770T>C (p.Ala590=) rs2229777 0.11345
NM_004531.5(MOCS2):c.*2032G>A rs75571463 0.11337
NM_006031.6(PCNT):c.8418G>A (p.Ala2806=) rs9983522 0.11315
NM_014846.4(WASHC5):c.1764+12A>G rs3765213 0.11313
NM_001174147.2(LMX1B):c.*1473G>A rs13299609 0.11304
NM_021074.5(NDUFV2):c.201A>T (p.Val67=) rs41274300 0.11303
NM_002474.3(MYH11):c.3859-158G>T rs79015533 0.11286
NM_000199.5(SGSH):c.89-39G>A rs9900502 0.11282
NM_004370.6(COL12A1):c.8265+19A>T rs9447445 0.11270
NM_032888.4(COL27A1):c.3250-39A>G rs41312228 0.11269
NM_005055.5(RAPSN):c.193-15C>T rs45547231 0.11254
NM_001148.6(ANK2):c.6168C>G (p.Leu2056=) rs3796928 0.11246
NM_147127.5(EVC2):c.2061T>C (p.Arg687=) rs73198153 0.11242
NM_025136.4(OPA3):c.*4672G>A rs11669246 0.11223
NM_005921.2(MAP3K1):c.3820-11A>G rs3736430 0.11208
NM_025136.4(OPA3):c.*3212G>A rs79317386 0.11204
NM_014402.5(UQCRQ):c.*678G>A rs55767930 0.11178
NM_014423.4(AFF4):c.2007C>T (p.Pro669=) rs739863 0.11172
NM_014423.4(AFF4):c.1051-55A>G rs12517073 0.11170
NM_014423.4(AFF4):c.3144-52T>A rs997633 0.11168
NM_000404.4(GLB1):c.76-4426C>T rs9865342 0.11155
NM_005445.4(SMC3):c.970-8G>A rs11195199 0.11151
NM_014141.6(CNTNAP2):c.*4839G>A rs10280038 0.11146
NM_014423.4(AFF4):c.963+11T>A rs56157864 0.11145
NM_000222.3(KIT):c.*149C>T rs2213181 0.11143
NM_014141.6(CNTNAP2):c.*3144A>G rs17170999 0.11137
NM_003640.5(ELP1):c.*1071G>A rs41305457 0.11134
NM_005445.4(SMC3):c.1092-18T>C rs11195200 0.11131
NM_014141.6(CNTNAP2):c.*3928C>T rs73473919 0.11111
NM_152594.3(SPRED1):c.*3521A>G rs11634702 0.11111
NM_000135.4(FANCA):c.3807G>C (p.Leu1269=) rs11649210 0.11105
NM_001999.4(FBN2):c.6931A>G (p.Met2311Val) rs32209 0.11103
NC_000001.11:g.230710231G>A rs4762 0.11089
NM_002645.4(PIK3C2A):c.4243A>G (p.Thr1415Ala) rs11604561 0.11089
NM_001854.4(COL11A1):c.660T>C (p.Ile220=) rs71664966 0.11088
NM_000020.3(ACVRL1):c.*2398G>A rs2293092 0.11085
NM_004614.5(TK2):c.700-13G>A rs16956600 0.11082
NM_147127.5(EVC2):c.519+15G>A rs17688121 0.11080
NM_152383.5(DIS3L2):c.456A>G (p.Gln152=) rs11887184 0.11049
NM_012431.3(SEMA3E):c.623G>C (p.Arg208Pro) rs61729612 0.11028
NM_001367624.2(ZNF469):c.6462G>A (p.Pro2154=) rs61472141 0.10977
NM_015100.4(POGZ):c.4104T>G (p.Thr1368=) rs1571294 0.10973
NM_000108.5(DLD):c.*28G>T rs17154615 0.10964
NM_024665.7(TBL1XR1):c.1416+25C>G rs16827730 0.10956
NM_003073.5(SMARCB1):c.897G>A (p.Ser299=) rs2229354 0.10948
NM_004544.4(NDUFA10):c.*2602C>T rs58261980 0.10946
NM_015272.5(RPGRIP1L):c.3936C>T (p.Asp1312=) rs4784320 0.10935
NM_016343.4(CENPF):c.3097G>A (p.Gly1033Arg) rs3795518 0.10931
NM_016343.4(CENPF):c.1806A>G (p.Leu602=) rs2070066 0.10927
NM_004553.6(NDUFS6):c.310-15T>C rs10058270 0.10920
NM_015443.4(KANSL1):c.662C>T (p.Thr221Ile) rs17662853 0.10907
NM_024537.4(CARS2):c.1664A>C (p.Gln555Pro) rs1043886 0.10889
NM_153717.3(EVC):c.802-15del rs369153323 0.10885
NM_002834.5(PTPN11):c.-273G>A rs58805176 0.10884
NM_004370.6(COL12A1):c.1892-8_1892-6del rs199713791 0.10881
NM_015272.5(RPGRIP1L):c.3073G>A (p.Gly1025Ser) rs2111119 0.10881
NM_001018115.3(FANCD2):c.1413+38A>C rs7615646 0.10867
NM_001854.4(COL11A1):c.1998+4T>A rs12136577 0.10860
NM_130837.3(OPA1):c.*2873A>T rs10419 0.10858
NM_001127671.2(LIFR):c.*586A>T rs2561819 0.10855
NM_001148.6(ANK2):c.10888+20C>T rs35728190 0.10852
NM_021224.6(ZNF462):c.3559C>T (p.Pro1187Ser) rs3814541 0.10834
NM_024996.7(GFM1):c.1323+72A>G rs2291594 0.10832
NM_004304.5(ALK):c.4338C>T (p.Thr1446=) rs56132472 0.10831
NM_001127649.3(PEX26):c.*1590G>A rs5992169 0.10823
NM_138959.3(VANGL1):c.-224C>A rs191609592 0.10807
NM_000093.5(COL5A1):c.3745-37G>A rs45629034 0.10800
NM_007118.4(TRIO):c.4020C>T (p.Ile1340=) rs7715916 0.10797
NM_001127649.3(PEX26):c.*1669C>G rs112015789 0.10796
NM_003000.3(SDHB):c.200+33G>A rs2647169 0.10785
NM_018993.4(RIN2):c.2201-47G>A rs6136905 0.10785
NM_144966.5(FREM1):c.*985T>G rs77341363 0.10783
NM_001127649.3(PEX26):c.*917C>T rs9605518 0.10773
NM_000093.5(COL5A1):c.3745-18G>A rs45556931 0.10766
NM_001308093.3(GATA4):c.617-61G>C rs10503425 0.10765
NM_007118.4(TRIO):c.3882-36C>G rs11949756 0.10757
NM_005055.5(RAPSN):c.855G>A (p.Gln285=) rs45603036 0.10742
NM_005055.5(RAPSN):c.*57C>T rs45617144 0.10726
NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val) rs3736228 0.10701
NM_024596.5(MCPH1):c.911G>T (p.Arg304Ile) rs2083914 0.10697
NM_014918.5(CHSY1):c.2114G>A (p.Arg705Gln) rs62621399 0.10677
NM_000233.4(LHCGR):c.*148T>C rs79248442 0.10655
NM_144966.5(FREM1):c.*1256T>A rs11789504 0.10647
NM_014141.6(CNTNAP2):c.2256-6A>T rs10240482 0.10641
NM_001370259.2(MEN1):c.1621= (p.Thr541=) rs2959656 0.10623
NM_000214.3(JAG1):c.588C>T (p.Cys196=) rs1801138 0.10620
NM_004531.5(MOCS2):c.*2415C>T rs16880872 0.10619
NM_138959.3(VANGL1):c.*6721A>G rs17034249 0.10611
NM_020964.3(EPG5):c.7558-11G>A rs57761448 0.10601
NM_022370.4(ROBO3):c.1104C>T (p.Cys368=) rs35978862 0.10601
NM_207361.6(FREM2):c.6458C>G (p.Thr2153Ser) rs9548506 0.10599
NM_207361.6(FREM2):c.6459T>C (p.Thr2153=) rs9548507 0.10596
NM_006121.4(KRT1):c.*344C>T rs11170231 0.10595
NM_000404.4(GLB1):c.458-11T>C rs34204221 0.10591
NM_138959.3(VANGL1):c.*2581G>A rs3811008 0.10587
NM_000208.4(INSR):c.*2854G>T rs1864193 0.10584
NM_001999.4(FBN2):c.183C>G (p.Pro61=) rs73348287 0.10581
NM_005159.5(ACTC1):c.-57T>C rs113178069 0.10580
NM_001361.5(DHODH):c.*569G>A rs113365769 0.10579
NM_006218.4(PIK3CA):c.1173A>G (p.Ile391Met) rs2230461 0.10578
NM_001174147.2(LMX1B):c.*451C>T rs71497630 0.10571
NM_000264.5(PTCH1):c.2250+25T>C rs16909898 0.10561
NM_006918.5(SC5D):c.*3627A>G rs2115925 0.10559
NM_003383.5(VLDLR):c.*180G>A rs3421 0.10555
NM_000141.5(FGFR2):c.557T>C (p.Met186Thr) rs755793 0.10553
NM_002693.3(POLG):c.3643+258A>G rs1860021 0.10541
NM_024757.5(EHMT1):c.3000C>T (p.Pro1000=) rs35943616 0.10540
NM_001122681.2(SH3BP2):c.-4-34T>C rs56323343 0.10535
NM_014402.5(UQCRQ):c.*757G>A rs17624157 0.10519
NM_001254.4(CDC6):c.438T>C (p.Cys146=) rs1130199 0.10516
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro) rs35769976 0.10508
NM_005529.7(HSPG2):c.8983A>G (p.Ser2995Gly) rs2229491 0.10503
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val) rs3743601 0.10494
NM_022455.5(NSD1):c.3705T>C (p.Asn1235=) rs28932181 0.10490
NM_023936.2(MRPS34):c.97C>A (p.Leu33Ile) rs11552431 0.10486
NM_003477.3(PDHX):c.798T>C (p.Pro266=) rs61760973 0.10477
NM_000208.4(INSR):c.*4422G>T rs12642 0.10462
NM_015559.3(SETBP1):c.3301G>A (p.Val1101Ile) rs3744825 0.10462
NM_006147.4(IRF6):c.*451A>G rs17317411 0.10461
NM_000208.4(INSR):c.*2010G>A rs55972112 0.10448
NM_000181.4(GUSB):c.1740C>T (p.Tyr580=) rs1061361 0.10447
NM_000218.3(KCNQ1):c.*479G>A rs2519184 0.10424
NM_001384732.1(CPLANE1):c.5381C>T (p.Pro1794Leu) rs75589774 0.10422
NM_007118.4(TRIO):c.3332-33C>T rs10866507 0.10407
NM_022369.4(STRA6):c.1581G>A (p.Met527Ile) rs736118 0.10407
NM_022458.4(LMBR1):c.1092C>T (p.Val364=) rs59912051 0.10405
NM_022370.4(ROBO3):c.2603C>T (p.Pro868Leu) rs55706177 0.10371
NM_014314.4(RIGI):c.1740T>A (p.Asp580Glu) rs17217280 0.10366
NM_004168.4(SDHA):c.1170C>T (p.Phe390=) rs35277230 0.10356
NM_001378964.1(CDON):c.350-13T>C rs3740910 0.10340
NM_001378964.1(CDON):c.484G>A (p.Glu162Lys) rs3740909 0.10334
NM_001378964.1(CDON):c.640+12G>A rs4426144 0.10328
NM_019892.6(INPP5E):c.972A>G (p.Pro324=) rs10870199 0.10324
NM_005529.7(HSPG2):c.10895G>A (p.Arg3632Gln) rs2229493 0.10303
NM_000113.3(TOR1A):c.646G>C (p.Asp216His) rs1801968 0.10301
NM_005529.7(HSPG2):c.11082C>T (p.Pro3694=) rs2229486 0.10296
NM_133259.4(LRPPRC):c.3900+14C>T rs3795859 0.10271
NM_005529.7(HSPG2):c.10260C>T (p.His3420=) rs35444472 0.10248
NM_000557.5(GDF5):c.1017= (p.Lys339=) rs224330 0.10244
NM_000719.7(CACNA1C):c.3209+129T>C rs215992 0.10242
NM_002181.4(IHH):c.600G>A (p.Thr200=) rs3731878 0.10242
NM_020184.4(CNNM4):c.*1244C>T rs7565577 0.10231
NM_021926.4(ALX4):c.729G>A (p.Ala243=) rs11037928 0.10227
NM_014314.4(RIGI):c.2337+11G>A rs45589431 0.10215
NM_022168.4(IFIH1):c.2469C>T (p.Ala823=) rs13418718 0.10215
NM_002860.4(ALDH18A1):c.896C>T (p.Thr299Ile) rs2275272 0.10214
NM_020779.4(WDR35):c.3121+12A>C rs28502265 0.10214
NM_001164508.2(NEB):c.2944-9G>A rs13427102 0.10205
NM_020779.4(WDR35):c.*1050T>C rs10197890 0.10201
NM_015631.6(TCTN3):c.193A>C (p.Thr65Pro) rs11553577 0.10199
NM_005529.7(HSPG2):c.11340T>C (p.Asn3780=) rs2229488 0.10195
NM_001001433.3(STX16):c.*183G>T rs1052642 0.10193
NM_194318.4(B3GLCT):c.*1644A>T rs876540 0.10159
NM_020779.4(WDR35):c.*98T>C rs6748924 0.10155
NM_000719.7(CACNA1C):c.6118-79C>T rs55830098 0.10145
NM_004429.5(EFNB1):c.*6C>T rs2230423 0.10142
NM_005045.4(RELN):c.2989C>G (p.Leu997Val) rs362691 0.10133
NM_052989.3(IFT122):c.1147+19C>T rs2301570 0.10129
NM_000124.4(ERCC6):c.2382+33T>C rs3750749 0.10128
NM_001048166.1(STIL):c.*316T>C rs11211488 0.10123
NM_000512.5(GALNS):c.199C>A (p.Leu67Met) rs11862754 0.10099
NM_001024630.4(RUNX2):c.*599T>G rs45585135 0.10099
NM_001017420.3(ESCO2):c.239C>T (p.Ala80Val) rs4732748 0.10090
NM_020184.4(CNNM4):c.*91C>T rs7581456 0.10076
NM_018451.5(CPAP):c.2635T>G (p.Ser879Ala) rs17402892 0.10073
NM_001127649.3(PEX26):c.-318A>G rs62239019 0.10068
NM_018451.5(CPAP):c.253C>A (p.Pro85Thr) rs9511510 0.10060
NM_001282531.3(ADNP):c.2568C>T (p.Val856=) rs1062651 0.10055
NM_020184.4(CNNM4):c.*1693G>A rs77892978 0.10049
NM_015559.3(SETBP1):c.4000+10T>A rs3786177 0.10035
NM_000147.5(FUCA1):c.4C>T (p.Arg2Trp) rs2070955 0.10031
NM_025152.3(NUBPL):c.*273C>T rs76188062 0.10021
NM_001854.4(COL11A1):c.*105C>T rs1031820 0.10018
NM_005908.4(MANBA):c.315G>A (p.Thr105=) rs6857760 0.10011
NM_015713.5(RRM2B):c.*1488G>C rs1265116 0.10011
NM_005529.7(HSPG2):c.9502G>A (p.Ala3168Thr) rs2228349 0.10008
NM_080605.4(B3GALT6):c.522G>C (p.Glu174Asp) rs12085009 0.10007
NM_145068.3(TRPV3):c.-142G>C rs11870904 0.10006
NM_012205.3(HAAO):c.630+34C>T rs13413507 0.09999
NM_153717.3(EVC):c.249A>G (p.Ser83=) rs35870680 0.09998
NM_014141.6(CNTNAP2):c.*1059A>T rs1062071 0.09994
NM_024009.3(GJB3):c.*493C>T rs13774 0.09992
NM_000348.4(SRD5A2):c.*91C>T rs192604242 0.09986
NM_206937.2(LIG4):c.*677A>G rs3093772 0.09986
NM_213599.3(ANO5):c.*1521T>C rs73483433 0.09970
NM_005751.5(AKAP9):c.7451A>G (p.Lys2484Arg) rs35759833 0.09968
NM_152558.5(IQCE):c.465+11G>A rs62442626 0.09959
NM_207346.3(TSEN54):c.409A>C (p.Ile137Leu) rs11559205 0.09934
NM_000124.4(ERCC6):c.*1830T>C rs11101137 0.09932
NM_000719.7(CACNA1C):c.478-137C>T rs7303824 0.09932
NM_001109878.2(TBX22):c.883T>C (p.Leu295=) rs195293 0.09932
NM_014918.5(CHSY1):c.1075C>T (p.Pro359Ser) rs3743193 0.09931
NM_000124.4(ERCC6):c.*3823T>C rs73297748 0.09918
NM_000124.4(ERCC6):c.*53T>C rs4253231 0.09905
NM_078470.6(COX15):c.*3417T>C rs10883407 0.09903
NM_000124.4(ERCC6):c.411G>A (p.Leu137=) rs4253013 0.09896
NM_001844.5(COL2A1):c.4213G>A (p.Gly1405Ser) rs2070739 0.09896
NM_052865.4(MGME1):c.43A>T (p.Ser15Cys) rs11551768 0.09890
NM_001379200.1(TBX1):c.1086A>G (p.Ala362=) rs13054377 0.09863
NM_000553.6(WRN):c.-213G>A rs11574158 0.09853
NM_005215.4(DCC):c.354G>A (p.Glu118=) rs13381333 0.09851
NM_000046.5(ARSB):c.*3181T>G rs11750774 0.09828
NM_001365951.3(KIF1B):c.*1159G>A rs4240913 0.09825
NM_001365951.3(KIF1B):c.*1133C>T rs4240912 0.09823
NM_000891.3(KCNJ2):c.*1069C>T rs45603434 0.09819
NM_013275.6(ANKRD11):c.7128C>G (p.Asp2376Glu) rs4785560 0.09807
NM_001852.4(COL9A2):c.1003C>G (p.Leu335Val) rs2228567 0.09793
NM_000492.4(CFTR):c.1210-13G>T rs10229820 0.09791
NM_213599.3(ANO5):c.*1313A>G rs73483432 0.09785
NM_080680.3(COL11A2):c.1179+10G>A rs2744507 0.09775
NM_022166.4(XYLT1):c.2675G>A (p.Arg892Gln) rs35309694 0.09774
NM_080680.3(COL11A2):c.2681C>T (p.Pro894Leu) rs2855430 0.09772
NM_014244.5(ADAMTS2):c.*847C>T rs78622875 0.09771
NM_014244.5(ADAMTS2):c.*853G>T rs17666900 0.09770
NM_018122.5(DARS2):c.*210T>C rs9425758 0.09751
NM_012463.4(ATP6V0A2):c.*3553G>A rs73420351 0.09739
NM_000540.3(RYR1):c.7500G>A (p.Ala2500=) rs2228072 0.09736
NM_017909.4(RMND1):c.125G>T (p.Ser42Ile) rs11550103 0.09721
NM_003640.5(ELP1):c.1926G>A (p.Thr642=) rs10979605 0.09707
NM_002296.4(LBR):c.*1361T>C rs14205 0.09705
NM_182943.3(PLOD2):c.*847C>T rs3792347 0.09680
NM_001378615.1(CC2D2A):c.2003+19C>T rs17476642 0.09677
NM_001330677.2(TBX15):c.1710C>T (p.Ser570=) rs12569041 0.09675
NM_013296.5(GPSM2):c.380G>A (p.Arg127Gln) rs41279678 0.09671
NM_022168.4(IFIH1):c.1379A>G (p.His460Arg) rs10930046 0.09666
NM_001164508.2(NEB):c.6184-14T>A rs10173335 0.09664
NM_005045.4(RELN):c.1776A>G (p.Glu592=) rs2072403 0.09661
NM_003640.5(ELP1):c.1965C>T (p.Thr655=) rs2230791 0.09637
NM_000256.3(MYBPC3):c.706A>G (p.Ser236Gly) rs3729989 0.09621
NM_133259.4(LRPPRC):c.3900+15C>T rs76850904 0.09620
NM_022095.4(ZNF335):c.3384T>C (p.Pro1128=) rs3746503 0.09613
NM_022095.4(ZNF335):c.1355+13G>A rs3746511 0.09610
NM_012293.3(PXDN):c.4074-40A>G rs66753271 0.09593
NM_004376.5(COX15):c.*3268A>C rs1056844 0.09586
NM_003482.4(KMT2D):c.1426G>A (p.Ala476Thr) rs1064210 0.09584
NM_005592.4(MUSK):c.1239G>A (p.Met413Ile) rs2274419 0.09566
NM_207346.3(TSEN54):c.1166A>C (p.Gln389Pro) rs77247739 0.09564
NM_001371623.1(TCOF1):c.1761G>T (p.Gly587=) rs7701163 0.09554
NM_024312.5(GNPTAB):c.18G>A (p.Leu6=) rs4764655 0.09551
NM_000719.7(CACNA1C):c.1481+727C>T rs77367745 0.09544
NM_014140.4(SMARCAL1):c.1852-153A>G rs66931264 0.09543
NM_016035.5(COQ4):c.318G>A (p.Ser106=) rs2270203 0.09525
NM_000557.5(GDF5):c.*335A>C rs73611720 0.09512
NM_001367624.2(ZNF469):c.1489G>A (p.Gly497Arg) rs28723506 0.09509
NM_000264.5(PTCH1):c.*2275T>A rs28380046 0.09501
NM_005993.5(TBCD):c.2853-44G>A rs729123 0.09492
NM_021926.4(ALX4):c.879C>T (p.Leu293=) rs12419361 0.09492
NM_020458.4(TTC7A):c.2034G>A (p.Ser678=) rs3739100 0.09488
NM_001127649.3(PEX26):c.*1635G>C rs361703 0.09478
NM_014140.4(SMARCAL1):c.2070T>C (p.Thr690=) rs2066527 0.09474
NM_001999.4(FBN2):c.5823T>C (p.His1941=) rs11955288 0.09446
NM_001367624.2(ZNF469):c.6470G>A (p.Arg2157Lys) rs13334190 0.09442
NM_182961.4(SYNE1):c.17202+24G>A rs12662994 0.09437
NM_001368809.2(AMPD2):c.91+180C>G rs186745159 0.09427
NM_016580.4(PCDH12):c.2496G>A (p.Gln832=) rs2434322 0.09424
NM_018668.5(VPS33B):c.151C>A (p.Arg51=) rs11542638 0.09422
NM_000348.4(SRD5A2):c.*88T>A rs370989010 0.09406
NM_000089.4(COL1A2):c.*804G>T rs1062394 0.09387
NM_001368809.2(AMPD2):c.-263+18T>C rs28362580 0.09386
NM_005993.5(TBCD):c.1475+25C>T rs74530485 0.09372
NM_001308093.3(GATA4):c.1000+200G>A rs3729851 0.09369
NM_030665.4(RAI1):c.4530C>T (p.Pro1510=) rs35686634 0.09361
NM_001953.5(TYMP):c.1412C>T (p.Ser471Leu) rs11479 0.09354
NM_030631.4(SLC25A21):c.441A>G (p.Gln147=) rs17105087 0.09352
NM_005138.3(SCO2):c.-18G>A rs74479613 0.09346
NM_001379081.2(FREM1):c.639A>G (p.Arg213=) rs950739 0.09339
NM_032444.4(SLX4):c.-359C>G rs57910835 0.09336
NM_001106.4(ACVR2B):c.*9471C>T rs6802919 0.09331
NM_000393.5(COL5A2):c.3690A>C (p.Thr1230=) rs10197596 0.09320
NM_015100.4(POGZ):c.2235-11T>C rs2025899 0.09308
NM_000478.6(ALPL):c.*433A>G rs2242421 0.09301
NM_020774.4(MIB1):c.2393+10A>G rs11877131 0.09299
NM_003722.5(TP63):c.*541G>A rs73199799 0.09298
NM_000082.4(ERCC8):c.*439G>T rs4647155 0.09291
NM_152564.5(VPS13B):c.7676T>C (p.Val2559Ala) rs7833870 0.09284
NM_000393.5(COL5A2):c.3720T>C (p.Tyr1240=) rs10208525 0.09281
NM_000393.5(COL5A2):c.*1402T>G rs11186 0.09269
NM_001282531.3(ADNP):c.2067C>T (p.Gly689=) rs17790938 0.09265
NM_153603.4(COG7):c.2103T>C (p.Pro701=) rs8057712 0.09257
NM_000414.4(HSD17B4):c.2122-34C>T rs28943593 0.09221
NM_004525.3(LRP2):c.2376T>C (p.Asp792=) rs33954745 0.09210
NM_012293.3(PXDN):c.3953-14T>C rs7578605 0.09206
NM_014780.5(CUL7):c.-168C>T rs3737186 0.09184
NM_207361.6(FREM2):c.*992T>C rs9532297 0.09184
NM_005629.4(SLC6A8):c.394+88G>A rs6643763 0.09180
NM_207361.6(FREM2):c.*5335A>G rs9548524 0.09168
NM_001814.6(CTSC):c.-18T>C rs11019400 0.09158
NM_002076.4(GNS):c.363G>A (p.Lys121=) rs2230291 0.09139
NM_020320.5(RARS2):c.872A>G (p.Lys291Arg) rs17850652 0.09110
NM_020436.5(SALL4):c.2640G>C (p.Ser880=) rs17802735 0.09099
NM_004560.4(ROR2):c.498T>C (p.Asp166=) rs16907720 0.09084
NM_024753.4(TTC21B):c.-145G>A rs111867313 0.09068
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly) rs3729856 0.09064
NM_024009.3(GJB3):c.798C>T (p.Asn266=) rs35983826 0.09056
NM_000071.3(CBS):c.*299G>A rs12613 0.09051
NM_015559.3(SETBP1):c.3388C>A (p.Pro1130Thr) rs1064204 0.09043
NM_002474.3(MYH11):c.3859-206C>T rs760023 0.09015
NM_005993.5(TBCD):c.28G>T (p.Gly10Cys) rs11550062 0.09008
NM_002465.4(MYBPC1):c.1386A>T (p.Thr462=) rs825045 0.08992
NM_002474.3(MYH11):c.3967C>T (p.Leu1323=) rs12907 0.08987
NM_016013.4(NDUFAF1):c.909G>A (p.Val303=) rs73407109 0.08960
NM_000256.3(MYBPC3):c.786C>T (p.Thr262=) rs11570058 0.08958
NM_022370.4(ROBO3):c.1247G>A (p.Arg416His) rs3862618 0.08948
NM_018684.4(ZC4H2):c.432A>G (p.Thr144=) rs6524946 0.08938
NM_021922.3(FANCE):c.*216del rs45584740 0.08934
NM_000528.4(MAN2B1):c.1238A>G (p.Asn413Ser) rs35836657 0.08930
NM_025136.4(OPA3):c.*2485G>A rs8106584 0.08922
NM_003070.5(SMARCA2):c.177G>A (p.Thr59=) rs10964471 0.08917
NM_005921.2(MAP3K1):c.3667-13G>A rs16886463 0.08897
NM_000335.5(SCN5A):c.*753C>T rs41310757 0.08896
NM_002334.4(LRP4):c.1309+24G>A rs3751097 0.08895
NM_025074.7(FRAS1):c.-65T>C rs6832285 0.08887
NM_025136.4(OPA3):c.*3722G>A rs73568973 0.08874
NM_001174147.2(LMX1B):c.*51A>G rs10121481 0.08863
NM_000036.3(AMPD1):c.143C>T (p.Pro48Leu) rs61752479 0.08857
NM_001365951.3(KIF1B):c.4299A>G (p.Pro1433=) rs12125492 0.08850
NM_000079.4(CHRNA1):c.960C>T (p.His320=) rs2229957 0.08849
NM_001018115.3(FANCD2):c.4281+673G>A rs9862958 0.08846
NM_198253.3(TERT):c.3039C>T (p.His1013=) rs33954691 0.08834
NM_021926.4(ALX4):c.*1896A>G rs55959427 0.08833
NM_001371623.1(TCOF1):c.3604-3C>T rs11743855 0.08821
NM_000719.7(CACNA1C):c.5574-174T>C rs2909053 0.08815
NM_022336.4(EDAR):c.*757T>C rs3749097 0.08815
NM_005055.5(RAPSN):c.172C>T (p.Arg58Cys) rs34312154 0.08810
NM_000512.5(GALNS):c.634-20C>T rs17603837 0.08794
NM_001378964.1(CDON):c.*2379T>C rs562083604 0.08788
NM_001174147.2(LMX1B):c.*3881G>T rs10987421 0.08782
NM_000540.3(RYR1):c.7527G>A (p.Val2509=) rs2071088 0.08780
NM_000256.3(MYBPC3):c.1223+29G>A rs11570078 0.08776
NM_001174147.2(LMX1B):c.*3865G>A rs10987420 0.08771
NM_020937.4(FANCM):c.5434C>G (p.Pro1812Ala) rs3736772 0.08766
NM_001136193.2(FASTKD2):c.1898+26G>A rs76270461 0.08765
NM_001366686.3(SIK3):c.1582-37A>G rs11216169 0.08764
NM_006494.4(ERF):c.1230T>C (p.Ala410=) rs35493131 0.08759
NM_003334.4(UBA1):c.2220G>A (p.Pro740=) rs2230147 0.08755
NM_152594.3(SPRED1):c.*1724A>C rs1554527 0.08749
NM_000719.7(CACNA1C):c.2436C>T (p.Asp812=) rs215976 0.08744
NM_003334.4(UBA1):c.1742-11G>C rs5953010 0.08744
NM_004525.3(LRP2):c.8453-11T>C rs11898106 0.08732
NM_000183.3(HADHB):c.1149+4A>T rs2303893 0.08727
NM_000553.5(WRN):c.-618C>G rs7017069 0.08717
NM_001854.4(COL11A1):c.138T>G (p.Asp46Glu) rs11164663 0.08714
NM_152594.3(SPRED1):c.*3996G>A rs72725364 0.08710
NM_000020.3(ACVRL1):c.-5-227C>G rs2277381 0.08706
NM_000860.6(HPGD):c.*418G>T rs2253270 0.08704
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter) rs17602729 0.08701
NM_025074.7(FRAS1):c.*1995G>T rs72873318 0.08697
NM_005271.5(GLUD1):c.942A>G (p.Leu314=) rs9421572 0.08685
NM_001360.3(DHCR7):c.231C>T (p.Thr77=) rs4316537 0.08662
NM_002296.4(LBR):c.*255C>G rs11551874 0.08660
NM_032444.4(SLX4):c.1366+11T>C rs76350200 0.08654
NM_133259.4(LRPPRC):c.3275+97T>C rs17424482 0.08642
NM_139057.4(ADAMTS17):c.1962C>T (p.Asp654=) rs61752832 0.08618
NM_000527.5(LDLR):c.81C>T (p.Cys27=) rs2228671 0.08613
NM_178161.3(PTF1A):c.*15G>A rs10828415 0.08608
NM_012082.4(ZFPM2):c.2346G>C (p.Glu782Asp) rs2920048 0.08600
NM_001379081.2(FREM1):c.1495A>G (p.Ile499Val) rs1353223 0.08593
NM_014165.4(NDUFAF4):c.*323A>T rs9487453 0.08584
NM_018127.7(ELAC2):c.1893A>G (p.Thr631=) rs17552022 0.08581
NM_004380.3(CREBBP):c.939T>C (p.Asp313=) rs3025702 0.08570
NM_002617.4(PEX10):c.913-4G>A rs11586985 0.08566
NM_003384.3(VRK1):c.1159+43C>G rs45457797 0.08564
NM_018127.7(ELAC2):c.491-14T>C rs74556312 0.08556
NM_000020.3(ACVRL1):c.1378-155T>G rs2277383 0.08548
NM_000503.6(EYA1):c.813A>G (p.Thr271=) rs1445398 0.08547
NM_000020.3(ACVRL1):c.*2380C>G rs2293093 0.08542
NM_000168.6(GLI3):c.*741A>G rs114615136 0.08538
NM_001271938.2(MEGF8):c.5272A>G (p.Lys1758Glu) rs1206038 0.08528
NM_003098.2(SNTA1):c.-255G>C rs57684257 0.08518
NM_000719.7(CACNA1C):c.1481+743C>T rs79331677 0.08514
NM_021926.4(ALX4):c.*1699G>T rs7942612 0.08488
NM_021625.5(TRPV4):c.795C>T (p.His265=) rs1344554 0.08478
NM_007215.4(POLG2):c.1269C>T (p.Ser423=) rs61733782 0.08470
NM_004985.5(KRAS):c.451-9G>A rs12313763 0.08467
NM_017777.4(MKS1):c.*75C>T rs35184412 0.08455
NM_000208.4(INSR):c.2595C>T (p.Asn865=) rs2229431 0.08453
NM_033337.3(CAV3):c.27C>T (p.Leu9=) rs1974763 0.08452
NM_002474.3(MYH11):c.3859-172T>G rs760024 0.08447
NM_147127.5(EVC2):c.2235A>G (p.Glu745=) rs60121553 0.08440
NM_001083614.2(EARS2):c.*2156T>G rs13334957 0.08431
NM_014704.4(CEP104):c.2057C>T (p.Ala686Val) rs2275831 0.08430
NM_021926.4(ALX4):c.778-11G>A rs75147697 0.08417
NM_002386.4(MC1R):c.488G>A (p.Arg163Gln) rs885479 0.08396
NM_022458.4(LMBR1):c.*89A>T rs3735186 0.08395
NM_000214.3(JAG1):c.2214A>C (p.Thr738=) rs1801140 0.08364
NM_000208.4(INSR):c.2007C>T (p.Phe669=) rs2962 0.08356
NM_020754.4(ARHGAP31):c.-38C>A rs72960626 0.08337
NM_032444.4(SLX4):c.*8A>G rs3751839 0.08334
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08329
NM_001276345.2(TNNT2):c.237G>A (p.Ser79=) rs3729845 0.08311
NM_000214.3(JAG1):c.267G>A (p.Gly89=) rs1051415 0.08298
NM_001077418.3(TMEM231):c.813G>A (p.Val271=) rs2242406 0.08287
NM_001256007.3(PNPLA8):c.1358+16T>C rs11971386 0.08285
NM_139057.4(ADAMTS17):c.*2283A>G rs8025962 0.08276
NM_000093.5(COL5A1):c.2593-45G>A rs45497895 0.08250
NM_017777.4(MKS1):c.1024+128C>T rs72839966 0.08242
NM_022552.5(DNMT3A):c.27C>T (p.Pro9=) rs41284843 0.08237
NM_017777.4(MKS1):c.*414C>T rs2302313 0.08215
NM_014762.4(DHCR24):c.*324T>C rs74072036 0.08213
NM_002386.4(MC1R):c.178G>T (p.Val60Leu) rs1805005 0.08197
NM_001271938.2(MEGF8):c.1934-7T>C rs1206044 0.08176
NM_000165.5(GJA1):c.*1322A>T rs12212865 0.08165
NM_004168.4(SDHA):c.1908+15C>T rs34504623 0.08152
NM_017775.4(TTC19):c.*46T>C rs3744328 0.08127
NM_001367624.2(ZNF469):c.*46C>A rs78600508 0.08121
NM_000093.5(COL5A1):c.1092C>T (p.Pro364=) rs41306391 0.08110
NM_000057.4(BLM):c.3961G>A (p.Val1321Ile) rs7167216 0.08093
NM_014176.4(UBE2T):c.385-11T>C rs17490864 0.08092
NM_017617.5(NOTCH1):c.3171+42G>A rs11145765 0.08084
NM_001024630.4(RUNX2):c.*3592A>G rs62400377 0.08061
NM_003850.3(SUCLA2):c.*328A>G rs13243 0.08057
NM_004380.3(CREBBP):c.1676+18A>T rs130018 0.08039
NM_020436.5(SALL4):c.2392A>C (p.Ile798Leu) rs6091375 0.08032
NM_000090.4(COL3A1):c.1815+18A>G rs28413125 0.08030
NM_021830.5(TWNK):c.*521C>G rs11542131 0.08029
NM_020937.4(FANCM):c.4378A>G (p.Ile1460Val) rs78211950 0.08024
NM_001128159.3(VPS53):c.1117-3C>T rs56807006 0.08020
NM_002474.3(MYH11):c.3859-558T>C rs16967500 0.08018
NM_002474.3(MYH11):c.3859-479C>T rs74009414 0.08006
NM_001173990.3(TMEM216):c.-2G>T rs7107543 0.08005
NM_003073.5(SMARCB1):c.-117C>T rs11090285 0.08005
NM_000214.3(JAG1):c.2382C>T (p.Ser794=) rs56225585 0.07991
NM_001379081.2(FREM1):c.828+33G>C rs950738 0.07986
NM_003640.5(ELP1):c.441G>A (p.Gln147=) rs2230788 0.07986
NM_002474.3(MYH11):c.3859-648C>T rs11557090 0.07983
NM_032444.4(SLX4):c.-295A>G rs59311338 0.07951
NM_001369268.1(ACAN):c.2737C>A (p.Pro913Thr) rs35430524 0.07950
NM_005327.7(HADH):c.*109T>A rs221347 0.07950
NM_001044385.3(TMEM237):c.1096G>T (p.Ala366Ser) rs73989521 0.07946
NM_020779.4(WDR35):c.*2463C>T rs3731661 0.07941
NM_000199.5(SGSH):c.1081G>A (p.Val361Ile) rs9894254 0.07931
NM_000020.3(ACVRL1):c.625+164T>C rs77709482 0.07925
NM_032444.4(SLX4):c.2854G>A (p.Ala952Thr) rs59939128 0.07918
NM_001854.4(COL11A1):c.3025-23A>T rs55682104 0.07912
NM_153717.3(EVC):c.221A>C (p.Gln74Pro) rs2291157 0.07908
NM_012293.3(PXDN):c.1568-19C>G rs7588627 0.07897
NM_004629.1(FANCG):c.-490G>T rs10972303 0.07883
NM_001351132.2(PEX5):c.-17+290T>A rs113752912 0.07875
NM_020458.4(TTC7A):c.300C>T (p.Ser100=) rs61738825 0.07874
NM_007129.5(ZIC2):c.1059C>T (p.His353=) rs1831992 0.07872
NM_005921.2(MAP3K1):c.3084A>G (p.Gln1028=) rs3822625 0.07871
NM_000553.6(WRN):c.1577-3C>A rs3087409 0.07869
NM_005359.6(SMAD4):c.*5535A>G rs75712226 0.07867
NM_181486.4(TBX5):c.*77A>G rs28730761 0.07861
NM_000093.5(COL5A1):c.1569+15C>T rs62574081 0.07860
NM_000193.4(SHH):c.-125G>A rs9333594 0.07860
NM_000218.3(KCNQ1):c.1590+14T>C rs11024034 0.07860
NM_001174150.2(ARL13B):c.1043C>G (p.Thr348Ser) rs33944211 0.07857
NM_000478.6(ALPL):c.1565T>C (p.Val522Ala) rs34605986 0.07856
NM_022166.4(XYLT1):c.2655C>T (p.Pro885=) rs924260 0.07855
NM_000199.5(SGSH):c.*833A>G rs2012452 0.07846
NM_014762.4(DHCR24):c.*1488C>T rs8990 0.07841
NM_001330078.2(NRXN1):c.-563G>C rs62143025 0.07837
NM_015713.4(RRM2B):c.-88C>A rs72554091 0.07833
NM_001330078.2(NRXN1):c.-602G>A rs62143026 0.07832
NM_003738.5(PTCH2):c.2371+17C>T rs7532882 0.07832
NM_002615.7(SERPINF1):c.643+9G>A rs12103559 0.07824
NM_032888.4(COL27A1):c.134-148G>A rs10982089 0.07816
NM_000466.3(PEX1):c.1804-28G>A rs10236856 0.07802
NM_000124.4(ERCC6):c.*933G>A rs3750751 0.07801
NM_000466.3(PEX1):c.-53C>G rs12386703 0.07798
NM_000553.6(WRN):c.340G>A (p.Val114Ile) rs2230009 0.07797
NM_003640.5(ELP1):c.-126T>G rs2275640 0.07797
NM_002474.3(MYH11):c.5517G>A (p.Ala1839=) rs28505375 0.07791
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=) rs1861050 0.07770
NM_001999.4(FBN2):c.4718-13T>C rs10044959 0.07765
NM_016955.4(SEPSECS):c.1356G>C (p.Lys452Asn) rs2302566 0.07763
NM_000088.4(COL1A1):c.859-14T>G rs17639446 0.07746
NM_001148.6(ANK2):c.*908A>G rs11550170 0.07744
NM_000020.3(ACVRL1):c.-5-33C>T rs2277382 0.07716
NM_001395413.1(POR):c.6A>G (p.Gly2=) rs10262966 0.07713
NM_020184.4(CNNM4):c.*965A>G rs3731941 0.07687
NM_152383.5(DIS3L2):c.34C>T (p.Pro12Ser) rs723044 0.07683
NM_000168.6(GLI3):c.900C>T (p.Ser300=) rs35961850 0.07677
NM_001148.6(ANK2):c.5469C>T (p.Pro1823=) rs33966911 0.07670
NM_080425.4(GNAS):c.1307C>A (p.Ala436Asp) rs61749698 0.07665
NM_133259.4(LRPPRC):c.*556A>T rs1136998 0.07663
NM_000719.7(CACNA1C):c.2103+293T>C rs12303681 0.07656
NM_207361.6(FREM2):c.2250C>T (p.Asp750=) rs41292755 0.07615
NM_001005498.4(RHBDF2):c.*619A>G rs2289802 0.07609
NM_001024630.4(RUNX2):c.240G>A (p.Ala80=) rs6921145 0.07604
NM_012431.3(SEMA3E):c.2211A>G (p.Arg737=) rs2371545 0.07602
NM_001174147.2(LMX1B):c.*79G>A rs10115393 0.07595
NM_005529.7(HSPG2):c.3557G>A (p.Arg1186Gln) rs2229481 0.07593
NM_024312.5(GNPTAB):c.*1195A>C rs112815421 0.07590
NM_006129.5(BMP1):c.2640C>A (p.Gly880=) rs77242743 0.07587
NM_001354604.2(MITF):c.*1248T>C rs2131025 0.07575
NM_020320.5(RARS2):c.111-19T>G rs6900057 0.07559
NM_004766.3(COPB2):c.2626-20C>A rs2307031 0.07557
NM_000197.2(HSD17B3):c.865G>A (p.Gly289Ser) rs2066479 0.07555
NM_000478.6(ALPL):c.1309+46C>T rs4654760 0.07555
NM_000503.6(EYA1):c.*800T>C rs74862574 0.07544
NM_017653.4(DYM):c.-309G>C rs28364579 0.07544
NM_000719.7(CACNA1C):c.4233-129T>G rs4765702 0.07532
NM_006918.5(SC5D):c.*1328C>T rs7942396 0.07530
NM_172201.2(KCNE2):c.-79G>A rs41260744 0.07525
NM_207361.6(FREM2):c.*1041C>T rs9548521 0.07524
NM_005529.7(HSPG2):c.3688G>A (p.Gly1230Ser) rs28546127 0.07520
NM_021926.4(ALX4):c.*973G>A rs117526668 0.07512
NM_052989.3(IFT122):c.2060G>A (p.Arg687Gln) rs61740161 0.07498
NM_000393.5(COL5A2):c.*392T>C rs1131518 0.07495
NM_004004.6(GJB2):c.-22-12C>T rs9578260 0.07478
NM_020461.4(TUBGCP6):c.5287C>T (p.Arg1763Trp) rs35381394 0.07476
NM_020779.4(WDR35):c.53A>G (p.Gln18Arg) rs1060742 0.07465
NM_000478.6(ALPL):c.792+45G>T rs3738098 0.07447
NM_022458.4(LMBR1):c.682A>G (p.Thr228Ala) rs6957768 0.07428
NM_005857.5(ZMPSTE24):c.*723C>T rs10489431 0.07425
NM_000093.5(COL5A1):c.2646+27C>T rs13301426 0.07414
NM_147127.5(EVC2):c.1711-20T>G rs58869180 0.07408
NM_003119.4(SPG7):c.1449+19G>A rs79201073 0.07399
NM_005857.5(ZMPSTE24):c.651T>C (p.Asp217=) rs2076697 0.07398
NM_032444.4(SLX4):c.2012T>C (p.Leu671Ser) rs77985244 0.07388
NM_024665.7(TBL1XR1):c.926-8C>T rs77478951 0.07381
NM_153603.4(COG7):c.1814C>T (p.Thr605Met) rs16940094 0.07374
NM_000353.3(TAT):c.309G>A (p.Ser103=) rs78302875 0.07372
NM_001358530.2(MOCS1):c.*1893G>C rs3008816 0.07361
NM_022336.4(EDAR):c.357-4G>A rs748225 0.07354
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val) rs35830695 0.07353
NM_005857.5(ZMPSTE24):c.*890A>G rs10489432 0.07352
NM_000751.3(CHRND):c.1047+9T>C rs3762528 0.07349
NM_000719.7(CACNA1C):c.4141-321A>G rs3794292 0.07325
NM_139057.4(ADAMTS17):c.*2701G>C rs13329612 0.07318
NM_020436.5(SALL4):c.2037C>T (p.Thr679=) rs13043248 0.07305
NM_003640.5(ELP1):c.1574G>A (p.Arg525Gln) rs838827 0.07294
NM_000404.4(GLB1):c.734-112T>C rs80059915 0.07289
NM_001113378.2(FANCI):c.2367G>T (p.Ala789=) rs11857960 0.07285
NM_153490.3(KRT13):c.437C>G (p.Ala146Gly) rs760134 0.07279
NM_000264.5(PTCH1):c.1504-8T>C rs2277184 0.07277
NM_016343.4(CENPF):c.6032A>C (p.Glu2011Ala) rs3790647 0.07277
NM_001104631.2(PDE4D):c.*5241T>C rs11950495 0.07267
NM_001113378.2(FANCI):c.2629A>T (p.Ile877Leu) rs35875311 0.07245
NM_003640.5(ELP1):c.*1260C>T rs13299651 0.07241
NM_003640.5(ELP1):c.1750+115C>G rs16913675 0.07241
NM_003640.5(ELP1):c.*1259C>G rs13299652 0.07240
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln) rs35953626 0.07232
NM_000393.5(COL5A2):c.*298G>A rs7586 0.07221
NM_001394062.1(MACF1):c.18448-16A>G rs10489935 0.07217
NM_001083961.2(WDR62):c.1643-39G>A rs2301735 0.07203
NM_000528.4(MAN2B1):c.1441G>T (p.Ala481Ser) rs34544747 0.07202
NM_024537.4(CARS2):c.538A>T (p.Ile180Phe) rs72661692 0.07201
NM_024757.5(EHMT1):c.1368C>T (p.Leu456=) rs45450992 0.07198
NM_152564.5(VPS13B):c.6963A>G (p.Val2321=) rs61753724 0.07191
NM_015139.3(SLC35D1):c.729+5G>C rs7539628 0.07175
NM_000168.6(GLI3):c.537C>T (p.His179=) rs3898405 0.07173
NM_006907.4(PYCR1):c.576T>C (p.Gly192=) rs872029 0.07170
NM_001814.5(CTSC):c.-74T>C rs11600158 0.07163
NM_024596.5(MCPH1):c.863C>A (p.Pro288His) rs35590577 0.07163
NM_030957.4(ADAMTS10):c.*428A>G rs116024095 0.07160
NM_016343.4(CENPF):c.5933A>G (p.Asp1978Gly) rs3790646 0.07126
NM_016343.4(CENPF):c.5302G>A (p.Asp1768Asn) rs3748692 0.07122
NM_024009.3(GJB3):c.357C>T (p.Asn119=) rs41310442 0.07121
NM_016343.4(CENPF):c.7386A>G (p.Glu2462=) rs3748698 0.07116
NM_025265.4(TSEN2):c.377G>A (p.Arg126His) rs33955793 0.07115
NM_002485.5(NBN):c.*1961T>C rs13312987 0.07113
NM_016343.4(CENPF):c.7067C>T (p.Ala2356Val) rs3748696 0.07113
NM_016343.4(CENPF):c.7581G>A (p.Leu2527=) rs3790648 0.07113
NM_147127.5(EVC2):c.-15G>A rs76269601 0.07112
NM_016343.4(CENPF):c.7611T>C (p.Leu2537=) rs3790649 0.07111
NM_002485.5(NBN):c.*757A>G rs13312981 0.07109
NM_016343.4(CENPF):c.6415G>A (p.Ala2139Thr) rs3748695 0.07107
NM_016343.4(CENPF):c.6674A>G (p.Gln2225Arg) rs12058704 0.07101
NM_000891.3(KCNJ2):c.*624G>A rs9302915 0.07098
NM_000126.4(ETFA):c.817-32A>G rs62030234 0.07095
NM_006129.5(BMP1):c.2155G>A (p.Val719Ile) rs11996036 0.07088
NM_001194998.2(CEP152):c.691+9C>T rs77732888 0.07084
NM_001851.6(COL9A1):c.877-23C>G rs6928611 0.07064
NM_006941.4(SOX10):c.18C>T (p.Asp6=) rs149435516 0.07056
NM_000168.6(GLI3):c.4071C>T (p.Tyr1357=) rs34089404 0.07043
NM_032444.4(SLX4):c.610C>T (p.Arg204Cys) rs79842542 0.07023
NM_000093.5(COL5A1):c.110-34C>T rs72772548 0.07019
NM_000047.3(ARSL):c.78A>G (p.Ala26=) rs35718384 0.07015
NM_001429.4(EP300):c.4026-17C>A rs2294976 0.07014
NM_001999.4(FBN2):c.7739C>T (p.Ser2580Leu) rs2291628 0.07011
NM_000527.5(LDLR):c.1617C>T (p.Pro539=) rs5929 0.07003
NM_000719.7(CACNA1C):c.3157-90A>G rs758560 0.07002
NM_007373.4(SHOC2):c.*1503A>G rs1327552 0.06997
NM_001999.4(FBN2):c.7013-5T>C rs28763927 0.06995
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4]) rs398124622 0.06994
NM_000925.4(PDHB):c.701-41G>A rs4585221 0.06991
NM_007055.4(POLR3A):c.3594+11A>C rs10509396 0.06976
NM_130837.3(OPA1):c.*3027A>G rs56329083 0.06966
NM_004415.4(DSP):c.126T>C (p.Tyr42=) rs36087964 0.06956
NM_000214.3(JAG1):c.744A>G (p.Pro248=) rs10485741 0.06947
NM_000719.7(CACNA1C):c.3717+69C>T rs55641425 0.06936
NM_006412.4(AGPAT2):c.-67G>C rs146341067 0.06932
NM_004782.4(SNAP29):c.*123G>C rs3171741 0.06922
NM_004782.4(SNAP29):c.*2105T>G rs5752201 0.06920
NM_019109.5(ALG1):c.800G>A (p.Ser267Asn) rs17849848 0.06910
NM_001368067.1(LDB3):c.504T>C (p.Asp168=) rs76615432 0.06909
NM_023110.3(FGFR1):c.-385G>A rs2467531 0.06909
NM_000256.3(MYBPC3):c.472G>A (p.Val158Met) rs3729986 0.06899
NM_000404.4(GLB1):c.1561= (p.Cys521=) rs4302331 0.06888
NM_139125.4(MASP1):c.1727G>T (p.Arg576Met) rs72549154 0.06887
NM_012414.4(RAB3GAP2):c.*404T>C rs1059140 0.06883
NM_000104.4(CYP1B1):c.729G>C (p.Val243=) rs9341249 0.06879
NM_006953.4(UPK3A):c.-25G>C rs116162068 0.06869
NM_012414.4(RAB3GAP2):c.3495G>A (p.Leu1165=) rs11547779 0.06867
NM_000135.4(FANCA):c.1143G>T (p.Thr381=) rs1800331 0.06866
NM_000719.7(CACNA1C):c.4399-146C>A rs2302727 0.06866
NM_021252.5(RAB18):c.*2375A>G rs2477317 0.06862
NM_023110.3(FGFR1):c.-699C>T rs328307 0.06862
NM_147127.5(EVC2):c.2046+5A>G rs6850875 0.06860
NM_000138.5(FBN1):c.156G>T (p.Ala52=) rs25398 0.06859
NM_016343.4(CENPF):c.2260C>G (p.Gln754Glu) rs3795523 0.06854
NM_000219.6(KCNE1):c.*2461A>G rs13050198 0.06850
NM_016343.4(CENPF):c.3314C>T (p.Thr1105Ile) rs12067133 0.06848
NM_016343.4(CENPF):c.3052T>G (p.Tyr1018Asp) rs3795519 0.06847
NM_133259.4(LRPPRC):c.149+57G>T rs62135152 0.06847
NM_001083614.2(EARS2):c.1488+34G>A rs75133940 0.06846
NM_016343.4(CENPF):c.4461T>G (p.Leu1487=) rs3795516 0.06845
NM_012414.4(RAB3GAP2):c.3275G>C (p.Ser1092Thr) rs2289189 0.06844
NM_016343.4(CENPF):c.4235T>C (p.Leu1412Ser) rs3795517 0.06844
NM_000891.3(KCNJ2):c.*558C>T rs9302914 0.06842
NM_001852.4(COL9A2):c.*312T>A rs41466547 0.06828
NM_133259.4(LRPPRC):c.1582+28T>C rs62135104 0.06827
NM_018006.5(TRMU):c.1176G>A (p.Thr392=) rs34591580 0.06826
NM_007078.3(LDB3):c.690-4842G>A rs113445294 0.06823
NM_000093.5(COL5A1):c.*311C>T rs1134114 0.06809
NM_004004.6(GJB2):c.*111C>T rs7329857 0.06802
NM_004004.6(GJB2):c.*104A>T rs7337074 0.06800
NM_000891.3(KCNJ2):c.*136G>A rs73998781 0.06798
NM_001852.4(COL9A2):c.1741G>A (p.Val581Ile) rs3737821 0.06797
NM_002968.3(SALL1):c.475A>G (p.Ser159Gly) rs13336129 0.06797
NM_000891.3(KCNJ2):c.660C>T (p.Ser220=) rs7221086 0.06793
NM_001114753.3(ENG):c.1029C>T (p.Thr343=) rs3739817 0.06792
NM_020754.4(ARHGAP31):c.540-6C>T rs16829782 0.06792
NM_022356.4(P3H1):c.2055+17C>T rs67014447 0.06792
NM_015713.5(RRM2B):c.*998A>G rs3907099 0.06791
NM_001358530.2(MOCS1):c.*824C>G rs11968491 0.06790
NM_000891.3(KCNJ2):c.*1198A>G rs9895478 0.06787
NM_000891.3(KCNJ2):c.*1251C>T rs9894661 0.06785
NM_000891.3(KCNJ2):c.*1266C>T rs9894677 0.06783
NM_006371.5(CRTAP):c.*4774C>T rs11925558 0.06783
NM_001367624.2(ZNF469):c.7508C>A (p.Ala2503Glu) rs141218390 0.06780
NM_006918.5(SC5D):c.*2986C>T rs141633273 0.06779
NM_001358530.2(MOCS1):c.583+10T>A rs34757428 0.06768
NM_033159.4(HYAL1):c.*492C>T rs1283 0.06762
NM_000314.8(PTEN):c.*2185C>T rs11202607 0.06759
NM_203486.3(DLL3):c.425T>A (p.Leu142Gln) rs55741253 0.06752
NM_004484.4(GPC3):c.1500T>C (p.Asp500=) rs2314298 0.06746
NM_001278716.2(FBXL4):c.1569G>A (p.Gly523=) rs11537982 0.06744
NM_000891.3(KCNJ2):c.*832G>A rs10083831 0.06743
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06742
NM_001127671.2(LIFR):c.*4854A>G rs35853268 0.06740
NM_021939.4(FKBP10):c.590A>G (p.Lys197Arg) rs34764749 0.06739
NM_000393.5(COL5A2):c.315= (p.Thr105=) rs4128539 0.06734
NM_000335.5(SCN5A):c.5841C>T (p.Ile1947=) rs13324293 0.06728
NM_000264.5(PTCH1):c.*237G>C rs28688501 0.06717
NM_015713.5(RRM2B):c.*3593G>A rs29000294 0.06703
NM_015713.5(RRM2B):c.*1277A>T rs5005121 0.06698
NM_000352.6(ABCC8):c.330C>T (p.Ala110=) rs8192695 0.06691
NM_002474.3(MYH11):c.3858+874G>A rs73519694 0.06691
NM_000428.3(LTBP2):c.-232G>A rs61980926 0.06690
NM_015713.5(RRM2B):c.*2666T>C rs3735721 0.06688
NM_000165.5(GJA1):c.*968T>C rs111878880 0.06674
NM_020754.4(ARHGAP31):c.432-100T>A rs73187863 0.06662
NM_017777.4(MKS1):c.191-44G>A rs73329636 0.06658
NM_002615.6(SERPINF1):c.-86C>A rs9913583 0.06657
NM_025265.4(TSEN2):c.162G>A (p.Ala54=) rs78685815 0.06643
NM_020320.5(RARS2):c.974+90T>C rs2273131 0.06641
NM_018714.3(COG1):c.1357G>C (p.Glu453Gln) rs62621249 0.06636
NM_020320.5(RARS2):c.975-43G>A rs3757371 0.06627
NM_000124.4(ERCC6):c.*1964_*1966del rs147228327 0.06626
NM_001931.5(DLAT):c.975+16G>T rs539991 0.06626
NM_018122.5(DARS2):c.1750+19T>G rs57068378 0.06626
NM_020320.5(RARS2):c.1305+18C>T rs3734908 0.06626
NM_000553.5(WRN):c.-278G>C rs11574157 0.06618
NM_000719.7(CACNA1C):c.1114-292C>T rs2238087 0.06609
NM_001025389.1(AMPD3):c.-303C>T rs2071019 0.06605
NM_145691.4(ATPAF2):c.*165C>T rs34673242 0.06601
NM_000046.5(ARSB):c.*1469C>T rs55710452 0.06599
NM_139057.4(ADAMTS17):c.*2541A>G rs8041971 0.06591
NM_000719.7(CACNA1C):c.1114-577G>A rs72653436 0.06587
NM_000751.3(CHRND):c.*424C>T rs4973046 0.06579
NM_017775.4(TTC19):c.*857G>A rs72821769 0.06575
NM_005027.4(PIK3R2):c.700= (p.Ser234=) rs2241088 0.06557
NM_000169.3(GLA):c.-12G>A rs3027585 0.06554
NM_001174147.2(LMX1B):c.*27G>A rs10115373 0.06554
NM_000162.5(GCK):c.-84C>G rs13306391 0.06548
NM_020223.4(FAM20C):c.1749G>A (p.Ala583=) rs143027699 0.06535
NM_003640.5(ELP1):c.545T>A (p.Met182Lys) rs10521092 0.06528
NM_002386.4(MC1R):c.274G>A (p.Val92Met) rs2228479 0.06520
NM_000890.5(KCNJ5):c.*976G>A rs7102315 0.06508
NM_022458.4(LMBR1):c.*1785dup rs35765850 0.06506
NM_000719.7(CACNA1C):c.3913-6632A>G rs2239125 0.06503
NM_030662.4(MAP2K2):c.192C>T (p.Val64=) rs8157 0.06496
NM_018062.4(FANCL):c.217-11T>C rs79588315 0.06493
NM_152564.5(VPS13B):c.9331-2A>T rs74485751 0.06492
NM_000719.7(CACNA1C):c.1896-126G>A rs77955861 0.06491
NM_001039958.2(MESP2):c.412G>A (p.Val138Met) rs28462216 0.06491
NM_001291867.2(NHS):c.1714C>T (p.Pro572Ser) rs150688899 0.06491
NM_000135.4(FANCA):c.17T>A (p.Val6Asp) rs1800282 0.06490
NM_002076.4(GNS):c.*942A>G rs12309081 0.06453
NM_002076.4(GNS):c.*411G>A rs11175525 0.06452
NM_000890.5(KCNJ5):c.*528C>T rs3867250 0.06451
NM_000890.5(KCNJ5):c.937+7C>T rs45516097 0.06448
NM_000169.3(GLA):c.-10C>T rs2071225 0.06441
NM_213599.3(ANO5):c.879-18T>C rs7104758 0.06440
NM_153717.3(EVC):c.1115C>T (p.Thr372Met) rs28483498 0.06438
NM_000428.3(LTBP2):c.1287G>A (p.Leu429=) rs61738025 0.06415
NM_000126.4(ETFA):c.512C>T (p.Thr171Ile) rs1801591 0.06414
NM_016042.4(EXOSC3):c.673T>C (p.Tyr225His) rs3208406 0.06407
NM_015335.5(MED13L):c.6354C>T (p.Pro2118=) rs3088260 0.06405
NM_032444.4(SLX4):c.1371T>G (p.Asn457Lys) rs74319927 0.06397
NM_001379081.2(FREM1):c.3471+11T>C rs72614223 0.06395
NM_005236.3(ERCC4):c.1984T>C (p.Ser662Pro) rs2020955 0.06391
NM_001378964.1(CDON):c.*1332T>G rs77555036 0.06389
NM_032444.4(SLX4):c.1152A>G (p.Pro384=) rs112511042 0.06386
NM_032444.4(SLX4):c.1156A>G (p.Met386Val) rs113490934 0.06384
NM_001369268.1(ACAN):c.1221C>T (p.Val407=) rs16942341 0.06383
NM_198859.4(PRICKLE2):c.984C>T (p.Asn328=) rs34460293 0.06381
NM_017777.4(MKS1):c.1671G>C (p.Leu557=) rs11548967 0.06374
NM_032444.4(SLX4):c.2013+23G>A rs112226642 0.06373
NM_176787.5(PIGN):c.1859+17A>G rs75516428 0.06372
NM_001127649.3(PEX26):c.*1623G>T rs114698763 0.06369
NM_004629.2(FANCG):c.-392A>G rs10972302 0.06369
NM_032273.4(TMEM126A):c.-69T>A rs17148285 0.06369
NM_032444.4(SLX4):c.2160+50C>T rs75762935 0.06369
NM_000428.3(LTBP2):c.956C>A (p.Pro319Gln) rs2304707 0.06364
NM_025074.7(FRAS1):c.3312T>C (p.Ser1104=) rs35774552 0.06352
NC_000023.11:g.101408672C>G rs3027580 0.06337
NM_017617.5(NOTCH1):c.5639-12C>T rs11574908 0.06332
NM_001379081.2(FREM1):c.4421C>T (p.Thr1474Ile) rs41265306 0.06329
NM_000284.4(PDHA1):c.*614G>T rs5955761 0.06313
NM_005529.7(HSPG2):c.8622C>T (p.His2874=) rs62642513 0.06306
NM_022356.4(P3H1):c.1915-20T>G rs3738498 0.06305
NM_001303.4(COX10):c.184A>T (p.Thr62Ser) rs2230351 0.06303
NM_001358530.2(MOCS1):c.716T>A (p.Leu239His) rs7762875 0.06302
NM_003482.4(KMT2D):c.13689C>T (p.Pro4563=) rs11168830 0.06301
NM_173660.5(DOK7):c.1243C>T (p.Pro415Ser) rs16844464 0.06297
NM_000095.3(COMP):c.2267A>G (p.Gln756Arg) rs61752496 0.06295
NM_012233.3(RAB3GAP1):c.*1077T>C rs16831395 0.06295
NM_000095.3(COMP):c.*1G>C rs77185131 0.06291
NM_145068.4(TRPV3):c.394G>A (p.Val132Met) rs8066242 0.06287
NM_033360.4(KRAS):c.*2626T>G rs61764370 0.06273
NM_002693.3(POLG):c.3708G>T (p.Gln1236His) rs3087374 0.06272
NM_001174147.2(LMX1B):c.*1304G>A rs73596779 0.06258
NM_138959.3(VANGL1):c.*3417C>T rs76160883 0.06248
NM_001114753.3(ENG):c.219+25G>T rs7847860 0.06245
NM_138959.3(VANGL1):c.*2489C>T rs41299571 0.06245
NM_003289.4(TPM2):c.*8G>A rs56249943 0.06243
NM_004278.4(PIGL):c.*86A>G rs2302314 0.06241
NM_030777.4(SLC2A10):c.1541A>G (p.Lys514Arg) rs41283344 0.06229
NM_006031.6(PCNT):c.5535G>A (p.Arg1845=) rs61735543 0.06211
NM_025136.3(OPA3):c.-75G>A rs45598532 0.06189
NM_012082.4(ZFPM2):c.3164C>T (p.Ala1055Val) rs16873741 0.06184
NM_000162.5(GCK):c.*477C>T rs2908275 0.06179
NM_138959.3(VANGL1):c.*6321T>G rs77318780 0.06169
NM_017827.4(SARS2):c.103A>G (p.Thr35Ala) rs34264048 0.06166
NM_019023.5(PRMT7):c.1905C>T (p.Pro635=) rs61733486 0.06161
NM_005445.4(SMC3):c.351-9T>C rs78663177 0.06159
NM_005445.4(SMC3):c.1365T>C (p.Tyr455=) rs75323904 0.06157
NM_000287.4(PEX6):c.2364G>A (p.Val788=) rs2274515 0.06152
NM_022166.4(XYLT1):c.2515G>A (p.Val839Ile) rs7200466 0.06145
NM_003072.5(SMARCA4):c.1944-19G>T rs74942410 0.06144
NM_207361.6(FREM2):c.2602C>G (p.Leu868Val) rs7329939 0.06144
NM_000287.4(PEX6):c.*319C>T rs736158 0.06143
NM_207361.6(FREM2):c.2165G>A (p.Arg722Lys) rs58363253 0.06139
NM_001379081.2(FREM1):c.3819T>A (p.Asp1273Glu) rs7025814 0.06135
NM_000208.4(INSR):c.*4195T>C rs1366601 0.06127
NM_022166.4(XYLT1):c.2224-12C>T rs12325442 0.06125
NM_000093.5(COL5A1):c.1431G>A (p.Ala477=) rs61729545 0.06122
NM_020247.5(COQ8A):c.*681G>A rs10482 0.06118
NM_004614.5(TK2):c.*2914C>T rs3743711 0.06117
NM_007373.4(SHOC2):c.*1487del rs143768227 0.06116
NM_000108.5(DLD):c.684+7G>A rs75123588 0.06110
NM_000135.4(FANCA):c.894-8A>G rs11648881 0.06110
NM_025136.4(OPA3):c.*577T>C rs112654759 0.06094
NM_001358530.2(MOCS1):c.*451C>T rs41273136 0.06093
NM_025136.4(OPA3):c.*3878A>G rs79660166 0.06091
NM_001194998.2(CEP152):c.2740C>G (p.Leu914Val) rs16961560 0.06089
NM_004614.5(TK2):c.156+15T>C rs80083556 0.06072
NM_003244.4(TGIF1):c.487C>T (p.Pro163Ser) rs4468717 0.06068
NM_001367624.2(ZNF469):c.8330A>T (p.Asp2777Val) rs3812954 0.06060
NM_004239.4(TRIP11):c.115A>T (p.Met39Leu) rs17127898 0.06056
NM_139057.4(ADAMTS17):c.*486G>A rs117381111 0.06056
NM_000208.4(INSR):c.*4186T>C rs1366600 0.06049
NM_000553.6(WRN):c.1161G>A (p.Met387Ile) rs1800391 0.06046
NM_020533.3(MCOLN1):c.966A>C (p.Arg322=) rs61736600 0.06042
NM_022356.4(P3H1):c.*77C>T rs13871 0.06035
NM_022356.4(P3H1):c.1045G>A (p.Gly349Arg) rs6700677 0.06024
NM_001367624.2(ZNF469):c.3516T>C (p.Arg1172=) rs111557381 0.06017
NM_002693.3(POLG):c.1713-32C>T rs3176190 0.06017
NM_000284.4(PDHA1):c.*1598G>C rs11094770 0.06012
NM_000138.4(FBN1):c.-388C>T rs3825792 0.06008
NM_006015.6(ARID1A):c.3199-95A>G rs76490152 0.06005
NM_004456.5(EZH2):c.553G>C (p.Asp185His) rs2302427 0.05998
NM_000719.7(CACNA1C):c.5445-262A>G rs35176240 0.05988
NM_000719.7(CACNA1C):c.4829-145C>G rs12818148 0.05983
NM_006031.6(PCNT):c.7874G>A (p.Arg2625Gln) rs8131693 0.05976
NM_153490.3(KRT13):c.*170C>T rs3169911 0.05973
NM_001854.4(COL11A1):c.*1105C>T rs12073619 0.05971
NM_002470.4(MYH3):c.2106C>T (p.Gly702=) rs56259391 0.05968
NM_022336.4(EDAR):c.1109T>C (p.Val370Ala) rs3827760 0.05968
NM_002470.4(MYH3):c.2610A>G (p.Lys870=) rs56163389 0.05967
NM_032043.3(BRIP1):c.*2241T>C rs76889595 0.05966
NM_001276345.2(TNNT2):c.788A>G (p.Lys263Arg) rs3730238 0.05965
NM_004560.4(ROR2):c.*1016T>G rs1135169 0.05960
NM_004560.4(ROR2):c.*712C>T rs1135150 0.05951
NM_015634.4(KIFBP):c.1023G>A (p.Gln341=) rs16926021 0.05950
NM_153717.3(EVC):c.341C>T (p.Ala114Val) rs16837598 0.05943
NM_005045.4(RELN):c.6702T>C (p.Cys2234=) rs2075043 0.05938
NM_030578.4(B9D2):c.*18G>A rs1800468 0.05927
NM_032208.3(ANTXR1):c.153-42G>A rs4366940 0.05922
NM_001106.4(ACVR2B):c.*5256A>G rs62239941 0.05920
NM_000135.4(FANCA):c.1927C>G (p.Pro643Ala) rs17232910 0.05919
NM_001368894.2(PAX6):c.808-12C>T rs667773 0.05916
NM_000135.4(FANCA):c.1777-29T>C rs2302162 0.05904
NM_001106.4(ACVR2B):c.*2280A>G rs17037775 0.05902
NM_004766.3(COPB2):c.1095-23T>C rs80249265 0.05901
NM_052859.4(RFT1):c.267-20A>T rs73840213 0.05900
NM_207346.3(TSEN54):c.1573G>C (p.Gly525Arg) rs11870627 0.05898
NM_017837.4(PIGV):c.-338A>C rs113400508 0.05897
NM_022356.4(P3H1):c.1647G>A (p.Met549Ile) rs11581921 0.05897
NM_001106.4(ACVR2B):c.*765G>A rs12636077 0.05884
NM_005529.7(HSPG2):c.3360G>A (p.Ala1120=) rs41307806 0.05882
NM_000262.3(NAGA):c.*1035G>A rs62238588 0.05880
NM_000393.5(COL5A2):c.*639G>A rs73981487 0.05878
NM_001106.4(ACVR2B):c.*6948G>A rs62241768 0.05874
NM_000135.4(FANCA):c.2779-7T>C rs17233253 0.05872
NM_145068.4(TRPV3):c.1419G>C (p.Leu473Phe) rs56169438 0.05871
NM_007055.4(POLR3A):c.2997G>T (p.Val999=) rs12241228 0.05870
NM_000135.4(FANCA):c.2901C>T (p.Ser967=) rs17226980 0.05869
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala) rs9282681 0.05868
NM_000514.4(GDNF):c.*1264C>T rs62360370 0.05866
NM_006031.6(PCNT):c.5634C>T (p.Asp1878=) rs61735811 0.05866
NM_000262.3(NAGA):c.957+4C>G rs55715427 0.05864
NM_000135.4(FANCA):c.3408+45G>A rs1800355 0.05862
NM_000135.4(FANCA):c.3067-4T>C rs17227064 0.05860
NM_000135.4(FANCA):c.3067-23G>A rs17227057 0.05859
NM_001844.5(COL2A1):c.*136C>T rs41272777 0.05859
NM_000135.4(FANCA):c.3765+37G>A rs34420680 0.05858
NM_000135.4(FANCA):c.2602-46T>A rs11076620 0.05847
NM_000489.6(ATRX):c.4659T>C (p.His1553=) rs25641 0.05840
NM_213720.3(CHCHD10):c.268A>C (p.Thr90Pro) rs767301039 0.05840
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val) rs11646374 0.05837
NM_004560.4(ROR2):c.2154C>T (p.Pro718=) rs2230577 0.05836
NM_001497.4(B4GALT1):c.597C>T (p.His199=) rs1065765 0.05834
NM_000503.6(EYA1):c.58C>G (p.Pro20Ala) rs1445404 0.05809
NM_138959.3(VANGL1):c.*300C>T rs41310108 0.05806
NM_138959.3(VANGL1):c.*217C>T rs41299565 0.05793
NM_001040167.2(LFNG):c.482-4A>G rs62444250 0.05791
NM_012082.4(ZFPM2):c.1776T>C (p.Pro592=) rs16873732 0.05790
NM_004531.5(MOCS2):c.*1673T>C rs73756617 0.05783
NM_005921.2(MAP3K1):c.482+10462A>G rs16886364 0.05783
NM_007294.4(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850 0.05782
NM_012082.4(ZFPM2):c.2976T>C (p.Tyr992=) rs1442320 0.05781
NM_005921.2(MAP3K1):c.483-18151A>G rs16886397 0.05776
NM_005921.2(MAP3K1):c.1687-46C>G rs16886448 0.05775
NM_005219.5(DIAPH1):c.117+14C>T rs2074913 0.05773
NM_012293.3(PXDN):c.1946+6G>A rs73178792 0.05765
NM_001122681.2(SH3BP2):c.*5738T>G rs12504763 0.05758
NM_000789.4(ACE):c.655+13C>T rs4300 0.05754
NM_004484.4(GPC3):c.1626A>G (p.Ala542=) rs61754631 0.05751
NM_006015.6(ARID1A):c.2420-18G>C rs34681611 0.05742
NM_133259.3(LRPPRC):c.-45G>A rs11124961 0.05742
NM_018668.5(VPS33B):c.1656A>T (p.Thr552=) rs16945153 0.05737
NM_003172.4(SURF1):c.*118T>C rs4962133 0.05734
NM_024809.5(TCTN2):c.*412T>C rs112525270 0.05727
NM_138959.3(VANGL1):c.*694C>A rs41312690 0.05722
NM_001854.4(COL11A1):c.3168+15A>G rs1012281 0.05717
NM_024809.5(TCTN2):c.873A>G (p.Ala291=) rs73418153 0.05717
NM_194318.4(B3GLCT):c.*1693G>C rs17703938 0.05717
NM_024809.5(TCTN2):c.225C>T (p.Asn75=) rs73416301 0.05714
NM_005006.7(NDUFS1):c.414T>C (p.Asp138=) rs11548670 0.05713
NM_017837.4(PIGV):c.*210A>G rs57189461 0.05712
NM_024809.5(TCTN2):c.83-4C>T rs73416299 0.05712
NM_024809.5(TCTN2):c.*87C>T rs113292231 0.05704
NM_001358530.2(MOCS1):c.*1334A>C rs3749999 0.05702
NM_001106.4(ACVR2B):c.*501G>C rs61085191 0.05701
NM_001291415.2(KDM6A):c.2859-16T>C rs778778940 0.05699
NM_005491.5(MAMLD1):c.1514T>C (p.Val505Ala) rs61740566 0.05698
NM_001814.6(CTSC):c.1357A>G (p.Ile453Val) rs3888798 0.05696
NM_005529.7(HSPG2):c.825G>A (p.Leu275=) rs41307868 0.05694
NM_001814.6(CTSC):c.1173T>G (p.Thr391=) rs17594 0.05691
NM_001394062.1(MACF1):c.13119T>C (p.Ser4373=) rs80197726 0.05686
NM_001394062.1(MACF1):c.20479C>A (p.Arg6827=) rs1746838 0.05686
NM_152281.3(GORAB):c.*1065A>T rs12063774 0.05681
NM_025074.7(FRAS1):c.6924C>T (p.Val2308=) rs13123710 0.05675
NM_001126121.2(SLC25A19):c.*437T>G rs73356384 0.05669
NM_006031.6(PCNT):c.8707G>A (p.Ala2903Thr) rs35147998 0.05666
NM_000165.5(GJA1):c.*3dup rs397824185 0.05665
NM_000302.4(PLOD1):c.1632A>C (p.Ala544=) rs2230898 0.05658
NM_015114.3(ANKLE2):c.2038G>A (p.Glu680Lys) rs78905764 0.05652
NM_015114.3(ANKLE2):c.2672G>C (p.Gly891Ala) rs77646743 0.05652
NM_152281.3(GORAB):c.*884C>A rs76753490 0.05650
NM_152281.3(GORAB):c.*883G>A rs76509176 0.05649
NM_021922.3(FANCE):c.*151A>G rs16876572 0.05645
NM_015713.5(RRM2B):c.*3527G>A rs1052071 0.05633
NM_015634.4(KIFBP):c.*415C>T rs1058645 0.05632
NM_001079866.2(BCS1L):c.655+63C>T rs36085075 0.05627
NM_001042492.3(NF1):c.4431-46G>C rs17881285 0.05624
NM_015713.5(RRM2B):c.*3463C>T rs1052069 0.05623
NM_000280.4(PAX6):c.*4296G>C rs16922475 0.05615
NM_003244.4(TGIF1):c.657T>G (p.Thr219=) rs2229336 0.05610
NM_006859.4(LIAS):c.507A>G (p.Glu169=) rs35086467 0.05609
NM_001122681.2(SH3BP2):c.*6211C>T rs61791177 0.05608
NM_001079866.2(BCS1L):c.996C>T (p.Asn332=) rs33946522 0.05607
NM_006015.6(ARID1A):c.1351-22A>C rs41303629 0.05601
NM_003119.4(SPG7):c.1663+13C>T rs80324518 0.05587
NM_000308.4(CTSA):c.219C>G (p.Pro73=) rs742035 0.05580
NM_014918.5(CHSY1):c.1302C>T (p.Tyr434=) rs2005180 0.05576
NM_020779.4(WDR35):c.2599G>A (p.Ala867Thr) rs2293669 0.05563
NM_025114.4(CEP290):c.6357+20A>T rs7971699 0.05562
NM_003573.2(LTBP4):c.2144-11C>A rs41470347 0.05552
NM_002834.5(PTPN11):c.14+25G>C rs7972574 0.05545
NM_002334.4(LRP4):c.941T>C (p.Leu314Ser) rs7926667 0.05542
NM_022370.4(ROBO3):c.1824C>T (p.Gly608=) rs77513537 0.05542
NM_025136.4(OPA3):c.*272G>A rs7246349 0.05540
NM_002334.4(LRP4):c.1695G>A (p.Glu565=) rs61741501 0.05533
NM_000719.7(CACNA1C):c.2339+104C>G rs74053838 0.05532
NM_024407.5(NDUFS7):c.408+10G>T rs2074896 0.05515
NM_000431.4(MVK):c.371+8C>T rs67886029 0.05513
NM_001106.4(ACVR2B):c.*2900T>C rs62239939 0.05513
NM_001394062.1(MACF1):c.11055G>A (p.Lys3685=) rs41270815 0.05505
NM_000264.5(PTCH1):c.*1373G>C rs16909865 0.05498
NM_000335.5(SCN5A):c.4845C>T (p.Phe1615=) rs41315495 0.05498
NM_001303.4(COX10):c.33C>T (p.Arg11=) rs8076787 0.05496
NM_003172.4(SURF1):c.573C>G (p.Thr191=) rs28715079 0.05492
NM_000046.5(ARSB):c.972A>G (p.Gly324=) rs72762973 0.05483
NM_001003722.2(GLE1):c.*181C>A rs10513496 0.05473
NM_019892.6(INPP5E):c.1359C>T (p.Pro453=) rs35774078 0.05472
NM_005138.3(SCO2):c.582C>T (p.Ser194=) rs131811 0.05449
NM_001018113.3(FANCB):c.1004G>A (p.Gly335Glu) rs41309679 0.05446
NM_024757.5(EHMT1):c.1648-20C>T rs12341990 0.05440
NM_000528.4(MAN2B1):c.747C>T (p.Thr249=) rs61737536 0.05436
NM_001358530.2(MOCS1):c.698C>T (p.Ala233Val) rs35825585 0.05422
NM_020754.4(ARHGAP31):c.881+7G>A rs78837524 0.05414
NM_025136.4(OPA3):c.*3531G>T rs112899014 0.05413
NM_001278716.2(FBXL4):c.465C>T (p.Leu155=) rs1011676 0.05403
NM_001844.5(COL2A1):c.4075-14C>G rs12721425 0.05398
NM_006031.6(PCNT):c.-16G>T rs138595914 0.05397
NM_001844.5(COL2A1):c.3991G>A (p.Val1331Ile) rs12721427 0.05396
NM_000414.4(HSD17B4):c.*260A>G rs28943596 0.05395
NM_003722.5(TP63):c.*45C>T rs34057105 0.05395
NM_006012.4(CLPP):c.-5G>A rs75589928 0.05394
NM_004589.4(SCO1):c.172C>T (p.Pro58Ser) rs1802083 0.05390
NM_025114.4(CEP290):c.3710G>A (p.Arg1237His) rs7307793 0.05381
NM_020751.3(COG6):c.1340T>C (p.Met447Thr) rs41286961 0.05379
NM_020458.4(TTC7A):c.2202C>T (p.Ile734=) rs17036191 0.05377
NM_213720.3(CHCHD10):c.286C>A (p.Pro96Thr) rs111677724 0.05376
NM_207361.6(FREM2):c.-260A>G rs7997838 0.05375
NM_014233.4(UBTF):c.1086C>T (p.Leu362=) rs2228196 0.05374
NM_025114.4(CEP290):c.5709+18C>A rs7973969 0.05367
NM_005236.3(ERCC4):c.1244G>A (p.Arg415Gln) rs1800067 0.05364
NM_012463.4(ATP6V0A2):c.*3603G>A rs73420352 0.05364
NM_013352.4(DSE):c.1142T>C (p.Val381Ala) rs41313440 0.05356
NM_004525.3(LRP2):c.769+18T>C rs62171262 0.05350
NM_004370.6(COL12A1):c.7786A>G (p.Ile2596Val) rs35710072 0.05341
NM_006494.4(ERF):c.981C>T (p.Ser327=) rs61735151 0.05337
NM_012463.4(ATP6V0A2):c.*574C>T rs112521789 0.05337
NM_000286.3(PEX12):c.-534C>T rs2278950 0.05335
NM_025114.4(CEP290):c.442-19T>A rs113132803 0.05334
NM_207361.6(FREM2):c.303C>A (p.Pro101=) rs8002488 0.05332
NM_004544.4(NDUFA10):c.*631C>T rs10933622 0.05326
NM_001379081.2(FREM1):c.-204T>G rs7860346 0.05324
NM_001378964.1(CDON):c.*278T>C rs73628538 0.05323
NM_001084.5(PLOD3):c.1233-4G>A rs2301903 0.05322
NM_170707.4(LMNA):c.810+13G>T rs11264444 0.05317
NM_002834.5(PTPN11):c.854-21C>T rs41279090 0.05308
NM_000431.4(MVK):c.405G>A (p.Ser135=) rs34368092 0.05306
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe) rs17233497 0.05303
NM_020964.3(EPG5):c.5591G>A (p.Ser1864Asn) rs34064739 0.05283
NM_017934.7(PHIP):c.2832A>G (p.Thr944=) rs12209235 0.05282
NM_000719.7(CACNA1C):c.4828+196G>T rs113957250 0.05280
NM_005359.6(SMAD4):c.905-52A>G rs948589 0.05280
NM_005996.4(TBX3):c.*747G>A rs3741695 0.05280
NM_006218.4(PIK3CA):c.1747-13T>C rs41273619 0.05277
NM_207361.6(FREM2):c.5003G>A (p.Arg1668His) rs1868463 0.05268
NM_001360.3(DHCR7):c.321+34C>A rs76865413 0.05265
NM_003036.4(SKI):c.185C>G (p.Ala62Gly) rs28384811 0.05253
NM_000020.3(ACVRL1):c.*1021T>C rs697631 0.05250
NM_006031.6(PCNT):c.711T>G (p.His237Gln) rs34500739 0.05250
NM_005529.7(HSPG2):c.5575+32T>C rs200354565 0.05248
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu) rs11104738 0.05247
NM_002334.4(LRP4):c.813G>A (p.Thr271=) rs879721 0.05245
NM_000020.3(ACVRL1):c.*949C>T rs810052 0.05244
NM_147127.5(EVC2):c.3253C>T (p.Leu1085=) rs112554914 0.05240
NM_001379286.1(ZNF423):c.1569T>C (p.Asn523=) rs13336762 0.05236
NM_018486.3(HDAC8):c.438-15C>T rs72630048 0.05226
NM_000088.4(COL1A1):c.642+25T>C rs73987448 0.05218
NM_005732.4(RAD50):c.3846T>C (p.Tyr1282=) rs1804670 0.05209
NM_022336.4(EDAR):c.*1248G>T rs75155869 0.05209
NM_001001433.3(STX16):c.*2365A>T rs189786439 0.05203
NM_001852.4(COL9A2):c.1368+12G>A rs112370406 0.05200
NM_000493.4(COL10A1):c.*1026G>A rs1059277 0.05194
NM_001130144.3(LTBP3):c.2107+8G>A rs74202491 0.05179
NM_001122681.2(SH3BP2):c.*3638A>G rs59295582 0.05175
NM_001128225.3(SLC39A13):c.83= (p.Glu28=) rs2010519 0.05174
NM_000512.5(GALNS):c.1177G>T (p.Ala393Ser) rs2303269 0.05170
NM_000512.5(GALNS):c.244+49C>T rs13334220 0.05168
NM_001844.5(COL2A1):c.2094+7A>G rs17801742 0.05167
NM_006371.5(CRTAP):c.*3949C>T rs72859106 0.05162
NM_000404.4(GLB1):c.1594A>G (p.Ser532Gly) rs73826339 0.05158
NM_000020.3(ACVRL1):c.1378-339T>G rs74094826 0.05144
NM_000325.6(PITX2):c.*454C>T rs6533526 0.05143
NM_020779.4(WDR35):c.*1489G>A rs10182866 0.05128
NM_170665.4(ATP2A2):c.2172G>A (p.Ala724=) rs56243033 0.05127
NM_001844.5(COL2A1):c.1836T>C (p.Gly612=) rs41317939 0.05124
NM_000135.4(FANCA):c.427-25T>A rs9282685 0.05123
NM_002472.3(MYH8):c.1907C>T (p.Ala636Val) rs34693726 0.05120
NM_002617.4(PEX10):c.279C>T (p.Gly93=) rs1143016 0.05120
NM_007103.4(NDUFV1):c.1056T>C (p.Ala352=) rs11227859 0.05117
NM_003477.3(PDHX):c.*173G>A rs75863418 0.05112
NM_025136.4(OPA3):c.*3038G>A rs73568982 0.05112
NM_003477.3(PDHX):c.*200T>C rs16926653 0.05109
NM_003722.5(TP63):c.*2216G>A rs35861864 0.05107
NM_001039958.2(MESP2):c.558G>A (p.Gln186=) rs28546919 0.05106
NM_003477.3(PDHX):c.339C>T (p.Ile113=) rs34582941 0.05105
NM_003640.5(ELP1):c.-71G>C rs2275639 0.05104
NM_000082.4(ERCC8):c.*519C>A rs4647157 0.05096
NM_004525.3(LRP2):c.*544T>C rs79052831 0.05096
NM_001130144.3(LTBP3):c.1313C>T (p.Ala438Val) rs11545200 0.05087
NM_002968.3(SALL1):c.2343G>C (p.Leu781=) rs60270998 0.05087
NM_000512.5(GALNS):c.898+42G>C rs76095307 0.05085
NM_003640.5(ELP1):c.2490A>G (p.Ile830Met) rs2230794 0.05069
NM_006031.6(PCNT):c.5858G>A (p.Arg1953His) rs34268261 0.05068
NM_001371623.1(TCOF1):c.1083+39G>A rs56113366 0.05067
NM_001379081.2(FREM1):c.-9C>G rs76002580 0.05065
NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile) rs8192690 0.05059
NM_025132.4(WDR19):c.-9A>G rs60800612 0.05032
NM_001136193.2(FASTKD2):c.*672T>A rs61672260 0.05029
NM_007103.4(NDUFV1):c.549C>G (p.Gly183=) rs10896187 0.05020
NM_001048166.1(STIL):c.-44+15G>A rs13376465 0.05019
NM_001194998.2(CEP152):c.2019-13G>A rs9302144 0.05016
NM_000719.7(CACNA1C):c.2530+247T>C rs1107389 0.05009
NM_001999.4(FBN2):c.5675-9del rs112666443 0.05000
NM_002472.3(MYH8):c.2016C>T (p.Phe672=) rs12936716 0.05000
NM_000046.5(ARSB):c.1362G>A (p.Pro454=) rs35757003 0.04998
NM_176787.5(PIGN):c.484A>G (p.Lys162Glu) rs17069506 0.04997
NM_206937.2(LIG4):c.8C>T (p.Ala3Val) rs1805389 0.04996
NM_003477.3(PDHX):c.241+3G>A rs78878052 0.04995
NM_022166.4(XYLT1):c.668C>G (p.Ala223Gly) rs113276942 0.04995
NM_024675.4(PALB2):c.-47G>A rs8053188 0.04991
NM_003477.3(PDHX):c.*890T>C rs1049333 0.04989
NM_006031.6(PCNT):c.8258G>A (p.Arg2753His) rs743346 0.04982
NM_032444.4(SLX4):c.*113C>T rs76661336 0.04982
NM_003172.4(SURF1):c.280T>C (p.Leu94=) rs28615629 0.04975
NM_015634.4(KIFBP):c.1653C>T (p.Ala551=) rs35893997 0.04974
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) rs17232246 0.04972
NM_000557.5(GDF5):c.*425T>C rs56366915 0.04970
NM_015272.5(RPGRIP1L):c.685G>A (p.Ala229Thr) rs61747071 0.04969
NM_012414.4(RAB3GAP2):c.1041-18A>C rs73098579 0.04963
NM_012082.4(ZFPM2):c.2385C>G (p.Val795=) rs35998713 0.04956
NM_032444.4(SLX4):c.555C>T (p.Asp185=) rs74640850 0.04956
NM_001346754.2(PIGW):c.376A>G (p.Asn126Asp) rs72818370 0.04955
NM_005633.4(SOS1):c.*3724T>C rs11124658 0.04952
NM_000860.6(HPGD):c.*132G>A rs2253170 0.04949
NM_032444.4(SLX4):c.*1004A>G rs75773027 0.04949
NM_032444.4(SLX4):c.*721T>C rs75146816 0.04948
NM_006031.6(PCNT):c.7536G>A (p.Pro2512=) rs61735818 0.04944
NM_003640.5(ELP1):c.819C>T (p.Leu273=) rs12340246 0.04943
NM_000183.3(HADHB):c.*486G>A rs7601689 0.04939
NM_001384732.1(CPLANE1):c.6427A>G (p.Ile2143Val) rs6884652 0.04935
NM_005529.7(HSPG2):c.12994G>A (p.Val4332Ile) rs1138469 0.04935
NM_005431.2(XRCC2):c.563G>A (p.Arg188His) rs3218536 0.04933
NM_016035.5(COQ4):c.59G>A (p.Arg20Gln) rs9697215 0.04933
NM_015272.5(RPGRIP1L):c.530-29G>A rs74393433 0.04932
NM_032444.4(SLX4):c.2855C>T (p.Ala952Val) rs78637028 0.04932
NM_006031.6(PCNT):c.7074T>C (p.Pro2358=) rs61735815 0.04931
NM_032444.4(SLX4):c.3662C>T (p.Ala1221Val) rs3827530 0.04930
NM_000095.3(COMP):c.1755G>A (p.Thr585=) rs34467947 0.04927
NM_000280.4(PAX6):c.*2901T>C rs542906080 0.04927
NM_213599.3(ANO5):c.*3152G>A rs79486036 0.04921
NM_000512.5(GALNS):c.758+22C>T rs78317153 0.04917
NM_004456.5(EZH2):c.2110+6T>G rs41277434 0.04917
NM_032444.4(SLX4):c.678C>T (p.His226=) rs28516461 0.04916
NM_018136.5(ASPM):c.7860G>C (p.Gln2620His) rs12138336 0.04915
NM_000218.3(KCNQ1):c.478-10G>A rs28730752 0.04910
NM_001164508.2(NEB):c.5971C>T (p.His1991Tyr) rs75807392 0.04908
NM_181523.3(PIK3R1):c.1176C>T (p.Phe392=) rs3730090 0.04903
NM_001005498.4(RHBDF2):c.1029C>T (p.Gly343=) rs61742551 0.04902
NM_024757.5(EHMT1):c.1869C>T (p.Asn623=) rs7868455 0.04901
NM_001793.6(CDH3):c.1430G>A (p.Arg477His) rs34494880 0.04895
NM_000393.5(COL5A2):c.*1165G>A rs13914 0.04890
NM_015713.5(RRM2B):c.*1121T>C rs4102401 0.04883
NM_015713.5(RRM2B):c.*3395C>G rs11575866 0.04883
NM_000514.4(GDNF):c.*2883G>A rs77776214 0.04880
NM_001854.4(COL11A1):c.*301A>G rs12731575 0.04880
NM_000203.5(IDUA):c.891C>T (p.Asn297=) rs114806891 0.04874
NM_001369268.1(ACAN):c.306C>A (p.Asp102Glu) rs16942318 0.04874
NM_015713.5(RRM2B):c.*2879A>G rs3204695 0.04874
NM_002693.3(POLG):c.660-46G>A rs2307430 0.04873
NM_001001433.3(STX16):c.-350C>A rs41296205 0.04872
NM_005529.7(HSPG2):c.5575+31C>A rs12757277 0.04871
NM_014244.5(ADAMTS2):c.2291-8A>G rs140401199 0.04871
NM_001039958.2(MESP2):c.531G>A (p.Ala177=) rs75049807 0.04869
NM_012414.4(RAB3GAP2):c.3868-31C>G rs12032738 0.04866
NM_052859.4(RFT1):c.553G>A (p.Ala185Thr) rs35221142 0.04860
NM_152383.5(DIS3L2):c.*103A>G rs113002914 0.04858
NM_022114.4(PRDM16):c.677-16G>A rs192554855 0.04854
NM_002386.4(MC1R):c.478C>T (p.Arg160Trp) rs1805008 0.04851
NM_173208.3(TGIF1):c.-445G>T rs2238537 0.04849
NM_004614.5(TK2):c.*3786C>T rs74451221 0.04842
NM_000020.3(ACVRL1):c.1377+326G>T rs11609817 0.04840
NM_002386.4(MC1R):c.451C>T (p.Arg151Cys) rs1805007 0.04832
NM_018451.5(CPAP):c.1560A>T (p.Thr520=) rs17081368 0.04825
NM_024757.5(EHMT1):c.3087G>A (p.Val1029=) rs11137244 0.04812
NM_004525.3(LRP2):c.6759T>C (p.Asp2253=) rs35114151 0.04805
NM_207346.3(TSEN54):c.1447C>G (p.Pro483Ala) rs62088470 0.04801
NM_000214.3(JAG1):c.2612C>G (p.Pro871Arg) rs35761929 0.04795
NM_022455.5(NSD1):c.5623-22G>A rs79098301 0.04787
NM_022455.5(NSD1):c.6750G>A (p.Met2250Ile) rs35848863 0.04785
NM_022455.5(NSD1):c.6782T>C (p.Met2261Thr) rs34165241 0.04781
NM_003070.5(SMARCA2):c.174G>A (p.Pro58=) rs10964470 0.04780
NM_006364.4(SEC23A):c.927T>C (p.Pro309=) rs17108797 0.04778
NM_022458.4(LMBR1):c.*1444T>G rs17837687 0.04775
NM_005996.4(TBX3):c.*132G>A rs79564336 0.04771
NM_002334.3(LRP4):c.-237G>C rs565737367 0.04762
NM_012233.3(RAB3GAP1):c.*1378T>C rs59746814 0.04762
NM_000208.4(INSR):c.3033C>T (p.Tyr1011=) rs1799815 0.04745
NM_013275.6(ANKRD11):c.6067G>C (p.Ala2023Pro) rs60520302 0.04744
NM_153281.2(HYAL1):c.-132G>A rs12488302 0.04741
NM_012414.4(RAB3GAP2):c.2587A>G (p.Thr863Ala) rs12045447 0.04740
NM_004782.4(SNAP29):c.*1490T>C rs12168260 0.04739
NM_001151.4(SLC25A4):c.-25G>A rs3733652 0.04735
NM_001374353.1(GLI2):c.2889C>T (p.Ser963=) rs146811565 0.04735
NM_018082.6(POLR3B):c.2218A>G (p.Thr740Ala) rs17038460 0.04732
NM_003924.4(PHOX2B):c.*1662A>T rs1063611 0.04731
NM_012293.3(PXDN):c.2661C>T (p.Ser887=) rs1863134 0.04731
NM_000891.3(KCNJ2):c.*2752T>C rs993085233 0.04719
NM_005592.4(MUSK):c.207-20T>C rs71501643 0.04718
NM_032444.4(SLX4):c.3812C>T (p.Ser1271Phe) rs3810813 0.04718
NM_004415.4(DSP):c.4578C>A (p.Asn1526Lys) rs28763966 0.04717
NM_030662.4(MAP2K2):c.405G>C (p.Gly135=) rs10424722 0.04706
NM_000020.3(ACVRL1):c.1378-217A>G rs772003 0.04704
NM_022167.4(XYLT2):c.30G>T (p.Leu10=) rs9912503 0.04702
NM_000719.7(CACNA1C):c.2531-169G>A rs58411337 0.04696
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_024426.6(WT1):c.1074A>G (p.Gln358=) rs2234590 0.04693
NM_181523.3(PIK3R1):c.2109T>C (p.Leu703=) rs3729981 0.04683
NM_002386.4(MC1R):c.*12G>A rs3212368 0.04681
NM_020964.3(EPG5):c.2532G>C (p.Glu844Asp) rs3744999 0.04674
NM_001844.5(COL2A1):c.2094+12G>C rs17122510 0.04673
NM_020223.4(FAM20C):c.1072+23A>G rs185225273 0.04671
NM_000233.4(LHCGR):c.*360G>A rs10495956 0.04668
NM_000719.7(CACNA1C):c.2460+160T>G rs74053839 0.04668
NM_015272.5(RPGRIP1L):c.3790G>A (p.Asp1264Asn) rs3213758 0.04663
NM_030632.3(ASXL3):c.1082+10A>T rs34896948 0.04661
NM_000512.5(GALNS):c.*524G>C rs3759946 0.04660
NM_000264.5(PTCH1):c.*1905C>G rs113213198 0.04659
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405 0.04656
NM_000514.4(GDNF):c.*529G>A rs58787312 0.04641
NM_006371.5(CRTAP):c.*4256A>G rs56401432 0.04639
NM_005027.4(PIK3R2):c.2127C>T (p.Thr709=) rs112813367 0.04637
NM_001854.4(COL11A1):c.2043+8G>A rs2622875 0.04635
NM_006371.5(CRTAP):c.*3793C>T rs72859105 0.04635
NM_004782.4(SNAP29):c.*2856G>A rs9625044 0.04630
NM_006371.5(CRTAP):c.*2901G>C rs72857502 0.04627
NM_003722.5(TP63):c.*435C>T rs78233713 0.04622
NM_001852.4(COL9A2):c.*122T>C rs2229827 0.04619
NM_001852.4(COL9A2):c.*236G>A rs41480445 0.04618
NM_021830.5(TWNK):c.1102G>A (p.Val368Ile) rs17113613 0.04615
NM_000088.4(COL1A1):c.3459T>C (p.Asp1153=) rs1800218 0.04610
NM_001114753.3(ENG):c.14C>T (p.Thr5Met) rs35400405 0.04608
NM_001852.4(COL9A2):c.*543G>A rs75291055 0.04607
NM_000264.5(PTCH1):c.*1616A>C rs73540181 0.04606
NM_000264.5(PTCH1):c.*1709G>A rs73540175 0.04602
NM_001113378.2(FANCI):c.164C>T (p.Pro55Leu) rs62020347 0.04602
NM_003072.5(SMARCA4):c.4053C>T (p.Asp1351=) rs28997582 0.04598
NM_152419.3(HGSNAT):c.*1216G>A rs73569597 0.04598
NM_005888.3(SLC25A3):c.-78G>A rs28372744 0.04592
NM_000112.4(SLC26A2):c.*4982A>G rs74589369 0.04589
NM_001202.6(BMP4):c.*88C>T rs74054236 0.04584
NM_004821.3(HAND1):c.468T>G (p.Ser156=) rs34402828 0.04584
NM_000112.4(SLC26A2):c.*3670G>A rs76262875 0.04581
NM_000719.7(CACNA1C):c.4038C>T (p.Ile1346=) rs56180838 0.04572
NM_133259.4(LRPPRC):c.1921-54A>T rs35768060 0.04572
NM_145861.4(EDARADD):c.*1593G>T rs61736989 0.04569
NM_025074.7(FRAS1):c.2128A>C (p.Ile710Leu) rs345512 0.04568
NM_000093.5(COL5A1):c.4447-45G>A rs3811147 0.04567
NM_013352.4(DSE):c.1926= (p.Asn642=) rs560644 0.04562
NM_173660.5(DOK7):c.753G>A (p.Ala251=) rs59932476 0.04559
NM_016955.4(SEPSECS):c.1211+7A>G rs17408685 0.04557
NM_000512.5(GALNS):c.898+25C>G rs113936280 0.04554
NM_000891.3(KCNJ2):c.*2758T>C rs1324652195 0.04554
NM_000208.4(INSR):c.*3029T>C rs72988602 0.04550
NM_000302.4(PLOD1):c.2124T>C (p.His708=) rs879690 0.04545
NM_001367624.2(ZNF469):c.1285G>A (p.Ala429Thr) rs113937803 0.04541
NM_001365276.2(TNXB):c.7168+5G>A rs204885 0.04539
NM_152269.5(MTRFR):c.273C>T (p.Ile91=) rs2280424 0.04534
NM_000719.7(CACNA1C):c.477+116658G>A rs11614966 0.04533
NM_005045.4(RELN):c.8136A>G (p.Leu2712=) rs3808039 0.04529
NM_001003722.2(GLE1):c.99+29C>G rs56164320 0.04523
NM_000182.5(HADHA):c.*510A>T rs13432453 0.04522
NM_000493.4(COL10A1):c.1809G>C (p.Val603=) rs2228548 0.04519
NM_152419.3(HGSNAT):c.*1780C>T rs1058608 0.04517
NM_005359.6(SMAD4):c.*6423G>C rs2282544 0.04514
NM_000719.7(CACNA1C):c.5292C>T (p.Asn1764=) rs72552065 0.04512
NM_001931.5(DLAT):c.626A>G (p.Gln209Arg) rs11553595 0.04510
NM_198239.2(CCN6):c.72T>C (p.Thr24=) rs1230346 0.04506
NM_152594.3(SPRED1):c.*248T>C rs16966842 0.04503
NM_001042545.2(LTBP4):c.1300T>A (p.Ser434Thr) rs34545902 0.04499
NM_018136.5(ASPM):c.3269C>T (p.Ser1090Phe) rs16841081 0.04499
NM_133459.4(CCBE1):c.*4788T>C rs77728352 0.04498
NM_001109878.2(TBX22):c.559G>A (p.Glu187Lys) rs34244923 0.04497
NM_000512.5(GALNS):c.599C>T (p.Thr200Met) rs7187889 0.04495
NM_001999.4(FBN2):c.6292+12C>A rs10042349 0.04495
NM_005045.4(RELN):c.*151T>C rs7811571 0.04492
NM_000199.5(SGSH):c.746-4A>G rs7218267 0.04487
NM_001361.5(DHODH):c.*595C>T rs111810095 0.04483
NM_152383.5(DIS3L2):c.2187C>T (p.Pro729=) rs75782436 0.04483
NM_025136.3(OPA3):c.-86G>A rs73570932 0.04481
NM_024757.5(EHMT1):c.129A>T (p.Ala43=) rs76684726 0.04476
NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly) rs28374544 0.04474
NM_001358530.2(MOCS1):c.*987C>T rs7758412 0.04471
NM_006031.6(PCNT):c.54+6C>T rs80017051 0.04471
NM_001271938.2(MEGF8):c.4065T>C (p.Val1355=) rs61995685 0.04463
NC_000013.11:g.20187454C>T rs11839674 0.04460
NM_025136.4(OPA3):c.*1387C>T rs73568986 0.04457
NM_001127671.2(LIFR):c.*5356A>G rs7713531 0.04455
NM_001271938.2(MEGF8):c.3450C>T (p.Pro1150=) rs149155949 0.04455
NM_004004.6(GJB2):c.*1197T>A rs11841182 0.04451
NM_033159.4(HYAL1):c.766G>A (p.Gly256Arg) rs116482870 0.04448
NM_032208.3(ANTXR1):c.224+81A>G rs4527236 0.04443
NM_000192.3(TBX5):c.-648C>G rs79465718 0.04439
NM_002334.4(LRP4):c.129C>G (p.Thr43=) rs61742974 0.04439
NM_000192.3(TBX5):c.-305C>A rs78462880 0.04438
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys) rs76275444 0.04436
NM_001358530.2(MOCS1):c.*378G>A rs11968529 0.04433
NM_014141.6(CNTNAP2):c.2099-15T>C rs75858942 0.04429
NM_025074.7(FRAS1):c.2575+15G>A rs79624813 0.04419
NM_003244.4(TGIF1):c.488C>T (p.Pro163Leu) rs2229333 0.04416
NM_198239.2(CCN6):c.807A>G (p.Gln269=) rs17219737 0.04415
NM_004821.3(HAND1):c.531G>C (p.Arg177=) rs34198899 0.04411
NM_002857.4(PEX19):c.*2353G>T rs9853 0.04407
NM_080680.3(COL11A2):c.3946C>A (p.Pro1316Thr) rs2229784 0.04406
NM_030662.4(MAP2K2):c.-243C>T rs181533374 0.04405
NM_145861.4(EDARADD):c.-3G>A rs79233817 0.04402
NM_000208.4(INSR):c.*3623A>G rs77859571 0.04400
NM_004525.3(LRP2):c.4236G>C (p.Arg1412=) rs34915742 0.04398
NM_000553.6(WRN):c.355+20A>T rs4987239 0.04393
NM_004525.3(LRP2):c.4046-6T>C rs76714416 0.04392
NM_005921.2(MAP3K1):c.1566C>T (p.Thr522=) rs2229882 0.04382
NM_001394062.1(MACF1):c.22386C>T (p.Ser7462=) rs72930231 0.04381
NM_001844.5(COL2A1):c.4068C>T (p.Gly1356=) rs17122498 0.04377
NM_004415.4(DSP):c.8175C>A (p.Arg2725=) rs11558731 0.04375
NM_014141.6(CNTNAP2):c.*3531G>A rs79360609 0.04371
NM_004153.4(ORC1):c.*231C>T rs3087471 0.04368
NM_000348.4(SRD5A2):c.*1056G>C rs28383085 0.04363
NM_005343.4(HRAS):c.111+15G>A rs41258054 0.04363
NM_005027.4(PIK3R2):c.937= (p.Ser313=) rs1011320 0.04360
NM_000059.4(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944 0.04357
NM_005908.4(MANBA):c.*356G>A rs7672268 0.04355
NM_000108.5(DLD):c.1351C>T (p.Leu451=) rs1803921 0.04354
NM_001852.4(COL9A2):c.738+10T>C rs56326652 0.04354
NM_000135.4(FANCA):c.*986G>A rs16966023 0.04351
NM_000512.5(GALNS):c.692C>G (p.Ala231Gly) rs34745339 0.04350
NM_003193.5(TBCE):c.1068A>G (p.Leu356=) rs6666168 0.04346
NM_001361.5(DHODH):c.*612T>C rs7191724 0.04342
NM_000093.5(COL5A1):c.2745+15A>T rs79481146 0.04340
NM_022114.4(PRDM16):c.2502C>T (p.Gly834=) rs115226069 0.04338
NM_000233.4(LHCGR):c.*528T>C rs73928203 0.04337
NM_003482.4(KMT2D):c.10671A>G (p.Pro3557=) rs61942218 0.04331
NM_005908.4(MANBA):c.831A>G (p.Leu277=) rs17033168 0.04331
NM_004589.4(SCO1):c.*310C>T rs2662957 0.04323
NM_153240.5(NPHP3):c.2610G>A (p.Pro870=) rs16839515 0.04323
NM_032861.4(SERAC1):c.1016-11C>T rs41269577 0.04319
NM_181486.4(TBX5):c.309C>T (p.Leu103=) rs28730763 0.04319
NM_003482.4(KMT2D):c.2438C>T (p.Pro813Leu) rs75226229 0.04312
NM_001122681.2(SH3BP2):c.*3974G>T rs80306465 0.04309
NM_002076.4(GNS):c.*1990A>G rs17100600 0.04306
NM_002076.4(GNS):c.*566A>G rs17100604 0.04303
NM_025136.4(OPA3):c.*7015G>A rs112948303 0.04300
NM_006031.6(PCNT):c.7485C>T (p.Ile2495=) rs61735817 0.04297
NM_006031.6(PCNT):c.7130C>T (p.Pro2377Leu) rs61735814 0.04295
NM_014140.4(SMARCAL1):c.945C>G (p.Ser315Arg) rs2066522 0.04294
NM_004565.3(PEX14):c.1014C>T (p.Asp338=) rs2128414 0.04291
NM_006371.5(CRTAP):c.*1919A>G rs4429578 0.04291
NM_012463.4(ATP6V0A2):c.*3227C>G rs111540619 0.04290
NM_001378615.1(CC2D2A):c.777C>T (p.His259=) rs2286976 0.04284
NM_000288.4(PEX7):c.803+105A>C rs72985582 0.04283
NM_003924.4(PHOX2B):c.*1347A>G rs62412180 0.04283
NM_022356.4(P3H1):c.139G>T (p.Ala47Ser) rs55716016 0.04262
NM_025114.4(CEP290):c.2717T>G (p.Leu906Trp) rs7970228 0.04262
NM_000112.4(SLC26A2):c.*2226C>T rs7722454 0.04260
NM_002296.4(LBR):c.*330T>G rs16844841 0.04260
NM_002834.5(PTPN11):c.14+54C>A rs7973432 0.04259
NM_005529.7(HSPG2):c.10918G>A (p.Val3640Ile) rs17459097 0.04258
NM_020975.6(RET):c.*1969T>C rs3026785 0.04255
NM_003849.4(SUCLG1):c.589+16A>G rs115384987 0.04250
NM_012123.4(MTO1):c.1918-7T>G rs73452515 0.04248
NM_020320.5(RARS2):c.1237+38G>A rs13203056 0.04243
NM_000335.5(SCN5A):c.2788-6C>T rs41260344 0.04241
NM_000302.4(PLOD1):c.644-17T>G rs41307745 0.04239
NM_000393.5(COL5A2):c.1311= (p.Pro437=) rs2229495 0.04238
NM_002454.3(MTRR):c.1155G>A (p.Leu385=) rs2287779 0.04224
NM_000719.7(CACNA1C):c.4485T>C (p.Asp1495=) rs41276710 0.04216
NM_001083961.2(WDR62):c.180G>A (p.Val60=) rs61742664 0.04216
NM_012233.3(RAB3GAP1):c.*171G>A rs11558413 0.04215
NM_001614.5(ACTG1):c.1026T>C (p.Gly342=) rs1139406 0.04214
NM_024596.5(MCPH1):c.790A>G (p.Ile264Val) rs34121009 0.04213
NM_000168.6(GLI3):c.*1296T>C rs77126593 0.04211
NM_005045.4(RELN):c.4588+14T>C rs362810 0.04203
NM_004589.4(SCO1):c.*272T>C rs2662956 0.04198
NM_000719.7(CACNA1C):c.4727-190G>A rs11062308 0.04196
NM_001122681.2(SH3BP2):c.*2163A>T rs170763 0.04196
NM_014918.5(CHSY1):c.1763G>C (p.Arg588Thr) rs62621400 0.04196
NM_001203.3(BMPR1B):c.*1361G>A rs56738985 0.04193
NM_000719.7(CACNA1C):c.1481+191G>A rs74053813 0.04192
NM_004589.4(SCO1):c.594A>G (p.Pro198=) rs2271228 0.04192
NM_001203.3(BMPR1B):c.*195C>T rs11725366 0.04190
NM_001614.5(ACTG1):c.1014G>A (p.Ser338=) rs1139807 0.04188
NM_001614.5(ACTG1):c.1128A>G (p.Ter376=) rs11549223 0.04188
NM_018136.5(ASPM):c.1977T>C (p.Ile659=) rs17550662 0.04184
NM_001040167.2(LFNG):c.972G>A (p.Ser324=) rs12700028 0.04179
NM_001042475.3(CEP85L):c.1020+17269T>G rs77186188 0.04176
NM_000020.3(ACVRL1):c.747G>A (p.Val249=) rs1058563 0.04166
NM_000124.4(ERCC6):c.-78G>T rs4253005 0.04162
NM_020779.4(WDR35):c.*1127A>G rs75503594 0.04161
NM_213599.3(ANO5):c.*3121A>G rs35827261 0.04156
NM_000466.3(PEX1):c.358-11G>C rs113104510 0.04153
NM_001113378.2(FANCI):c.2547A>G (p.Lys849=) rs7183618 0.04152
NM_002834.5(PTPN11):c.1093-9C>A rs12301915 0.04151
NM_020247.5(COQ8A):c.255T>G (p.His85Gln) rs2297411 0.04148
NM_014244.5(ADAMTS2):c.1383-22C>T rs115740207 0.04147
NM_002968.3(SALL1):c.2310C>T (p.Ile770=) rs61740811 0.04143
NM_013352.4(DSE):c.101C>T (p.Pro34Leu) rs35548455 0.04141
NM_207346.3(TSEN54):c.568G>A (p.Val190Met) rs79508780 0.04141
NM_005327.7(HADH):c.636+13G>A rs17511214 0.04139
NM_014244.5(ADAMTS2):c.*2439C>T rs78886769 0.04139
NM_001367624.2(ZNF469):c.1143C>A (p.Pro381=) rs74032864 0.04134
NM_024120.5(NDUFAF5):c.849G>A (p.Ala283=) rs34901599 0.04132
NM_013275.6(ANKRD11):c.3822C>T (p.Ala1274=) rs61741725 0.04130
NM_003072.5(SMARCA4):c.4584C>T (p.Asp1528=) rs9105 0.04127
NM_001429.4(EP300):c.2380-15T>C rs17002316 0.04125
NM_003482.4(KMT2D):c.14251+18T>C rs74830946 0.04121
NM_000368.5(TSC1):c.*2651G>T rs55660990 0.04112
NM_003244.4(TGIF1):c.576C>T (p.Val192=) rs2229335 0.04112
NM_001303.4(COX10):c.928+12G>A rs200573622 0.04100
NM_003482.4(KMT2D):c.14238G>A (p.Arg4746=) rs75340924 0.04096
NM_001429.4(EP300):c.95-16T>C rs5758235 0.04095
NM_153704.6(TMEM67):c.2892A>C (p.Thr964=) rs16916221 0.04084
NM_017780.4(CHD7):c.7356A>G (p.Thr2452=) rs2272727 0.04082
NM_000414.4(HSD17B4):c.739+23T>C rs6895345 0.04079
NM_004525.3(LRP2):c.13155C>T (p.His4385=) rs16856476 0.04079
NM_005045.4(RELN):c.1596G>A (p.Gln532=) rs41276154 0.04078
NM_001429.4(EP300):c.1168+18G>A rs3818120 0.04073
NM_004525.3(LRP2):c.6040+15C>T rs17848168 0.04070
NM_000965.5(RARB):c.306+19G>A rs77748152 0.04069
NM_000428.3(LTBP2):c.*1873C>G rs77847288 0.04063
NM_007103.4(NDUFV1):c.-66G>A rs73490568 0.04056
NM_015443.4(KANSL1):c.2136G>A (p.Pro712=) rs2277613 0.04041
NM_000353.3(TAT):c.1173G>A (p.Glu391=) rs16973331 0.04038
NM_145861.4(EDARADD):c.*1613T>C rs61737025 0.04028
NM_139057.4(ADAMTS17):c.*2007G>A rs8041901 0.04026
NM_001429.4(EP300):c.3348G>A (p.Gln1116=) rs20554 0.04022
NM_000192.3(TBX5):c.-39+12C>A rs11837917 0.04016
NM_001953.5(TYMP):c.1393G>A (p.Ala465Thr) rs112723255 0.04015
NM_001127671.2(LIFR):c.143-60A>G rs62355821 0.04013
NM_004004.6(GJB2):c.*168A>G rs55704559 0.04011
NM_000169.2(GLA):c.-105A>G rs3027583 0.04009
NM_000088.4(COL1A1):c.177G>T (p.Arg59=) rs1057297 0.04003
NM_022095.4(ZNF335):c.2595C>A (p.Asp865Glu) rs41280276 0.04003
NM_004004.6(GJB2):c.*931C>T rs5030700 0.03992
NM_001852.4(COL9A2):c.1062G>A (p.Pro354=) rs6676013 0.03985
NM_001365276.2(TNXB):c.5713G>A (p.Glu1905Lys) rs17207923 0.03984
NM_002296.4(LBR):c.1071G>A (p.Ser357=) rs112582692 0.03981
NM_006757.4(TNNT3):c.636T>C (p.Ile212=) rs16927166 0.03978
NM_005327.4(HADH):c.*818A>G rs17511319 0.03973
NM_000256.3(MYBPC3):c.537C>T (p.Ala179=) rs11570051 0.03962
NM_025132.4(WDR19):c.910G>A (p.Val304Ile) rs75964850 0.03961
NM_001365951.3(KIF1B):c.*2661A>T rs6694522 0.03958
NM_000165.5(GJA1):c.*173G>A rs72548744 0.03954
NM_002474.3(MYH11):c.3866T>C (p.Val1289Ala) rs16967510 0.03954
NM_021252.5(RAB18):c.*2744C>T rs12254670 0.03950
NM_001080432.3(FTO):c.*721T>G rs58094871 0.03948
NM_000046.5(ARSB):c.1151G>A (p.Ser384Asn) rs25414 0.03947
NM_021252.5(RAB18):c.*2449A>G rs12260532 0.03947
NM_021252.5(RAB18):c.*1412C>T rs10508723 0.03943
NM_021252.5(RAB18):c.*2476G>A rs12267298 0.03943
NM_000719.7(CACNA1C):c.1218-66G>A rs2239098 0.03942
NM_005027.4(PIK3R2):c.2179G>A (p.Ala727Thr) rs149081991 0.03942
NM_021252.5(RAB18):c.*387C>A rs12248740 0.03936
NM_001378615.1(CC2D2A):c.1127A>C (p.Glu376Ala) rs16892095 0.03933
NM_015311.3(OBSL1):c.1102C>T (p.Arg368Cys) rs35009641 0.03933
NM_001127671.2(LIFR):c.346C>T (p.His116Tyr) rs3729734 0.03927
NM_003070.5(SMARCA2):c.683A>C (p.Gln228Pro) rs62534884 0.03925
NM_012414.4(RAB3GAP2):c.*1504G>T rs41303053 0.03924
NM_014244.5(ADAMTS2):c.2730A>G (p.Pro910=) rs6869261 0.03924
NM_000093.5(COL5A1):c.3475-36A>C rs13297647 0.03921
NM_025074.7(FRAS1):c.160G>C (p.Asp54His) rs17003071 0.03918
NM_002541.4(OGDH):c.3052G>A (p.Val1018Ile) rs2070607 0.03912
NM_000093.5(COL5A1):c.3528+43G>A rs41306395 0.03911
NM_001001433.2(STX16):c.-744T>C rs6026428 0.03911
NM_000393.5(COL5A2):c.3411= (p.Gly1137=) rs6434312 0.03908
NM_024665.7(TBL1XR1):c.59-13C>G rs78281312 0.03907
NM_145020.5(CFAP53):c.691C>T (p.Arg231Cys) rs12607385 0.03902
NM_001379081.2(FREM1):c.2277T>C (p.Gly759=) rs16932323 0.03898
NM_002485.5(NBN):c.703-18G>A rs769418 0.03898
NM_022039.4(FBXW4):c.*7G>C rs73349895 0.03898
NM_000233.4(LHCGR):c.872A>G (p.Asn291Ser) rs12470652 0.03897
NM_022095.4(ZNF335):c.2703C>T (p.Ser901=) rs3746504 0.03894
NM_000093.5(COL5A1):c.2700+46C>T rs34636935 0.03889
NM_207361.6(FREM2):c.*5612T>G rs200747289 0.03887
NM_000719.7(CACNA1C):c.1113+100C>G rs116184062 0.03886
NM_001378964.1(CDON):c.*3862G>T rs73019367 0.03885
NM_006031.6(PCNT):c.520A>G (p.Ile174Val) rs61735822 0.03881
NM_013275.6(ANKRD11):c.893-92C>T rs72803305 0.03881
NM_000719.7(CACNA1C):c.2340-72G>A rs11062281 0.03879
NM_000540.3(RYR1):c.10218C>T (p.Tyr3406=) rs41274330 0.03876
NM_001365951.3(KIF1B):c.*1361A>T rs2847347 0.03872
NM_003072.5(SMARCA4):c.356-14A>G rs111447132 0.03865
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_000525.4(KCNJ11):c.808C>G (p.Leu270Val) rs1800467 0.03859
NM_012414.4(RAB3GAP2):c.713-12T>C rs76473498 0.03857
NM_022725.4(FANCF):c.*1629C>T rs10500938 0.03856
NM_080647.1(TBX1):c.-882C>T rs41298629 0.03856
NM_001365276.2(TNXB):c.9631C>G (p.Arg3211Gly) rs41270450 0.03853
NM_003119.4(SPG7):c.*33C>T rs60711430 0.03853
NM_020745.4(AARS2):c.1753-14C>G rs74950428 0.03853
NM_004525.3(LRP2):c.3836A>C (p.Asp1279Ala) rs17848149 0.03848
NM_003334.4(UBA1):c.1742-18G>A rs5953009 0.03846
NM_007055.4(POLR3A):c.*1448A>G rs78703311 0.03839
NM_005529.7(HSPG2):c.6133+19T>C rs36080251 0.03837
NM_005529.7(HSPG2):c.8939T>A (p.Leu2980His) rs2229489 0.03837
NM_012431.3(SEMA3E):c.1566T>C (p.Tyr522=) rs61636768 0.03837
NM_000126.4(ETFA):c.*268A>G rs80292319 0.03836
NM_005529.7(HSPG2):c.6552G>A (p.Thr2184=) rs34443576 0.03836
NM_005529.7(HSPG2):c.8026-5T>C rs35917892 0.03832
NM_005529.7(HSPG2):c.6673G>A (p.Gly2225Ser) rs35669711 0.03830
NM_003366.4(UQCRC2):c.548G>A (p.Arg183Gln) rs4850 0.03828
NM_002541.4(OGDH):c.345A>G (p.Glu115=) rs11557280 0.03827
NM_005529.7(HSPG2):c.7806C>A (p.Val2602=) rs12737091 0.03827
NM_002541.4(OGDH):c.2988C>T (p.Thr996=) rs61756583 0.03821
NM_005529.7(HSPG2):c.5899G>A (p.Val1967Ile) rs2229475 0.03821
NM_174934.4(SCN4B):c.174C>T (p.Cys58=) rs45539032 0.03816
NM_005529.7(HSPG2):c.6402G>A (p.Val2134=) rs12742444 0.03814
NM_001358530.2(MOCS1):c.1800C>T (p.Ala600=) rs41273138 0.03810
NM_005633.4(SOS1):c.195A>C (p.Arg65=) rs7609455 0.03809
NM_000414.4(HSD17B4):c.2199C>T (p.Tyr733=) rs12714 0.03803
NM_000183.3(HADHB):c.*196A>G rs7586822 0.03799
NM_012243.3(SLC35A3):c.-19+415A>G rs11166383 0.03792
NM_020975.6(RET):c.2508C>T (p.Ser836=) rs1800862 0.03791
NM_004239.4(TRIP11):c.*1744G>A rs11848512 0.03789
NM_006147.4(IRF6):c.-75-4A>G rs2235377 0.03786
NM_012293.3(PXDN):c.3093C>T (p.Tyr1031=) rs6752525 0.03782
NM_000264.5(PTCH1):c.3141T>G (p.Leu1047=) rs2066835 0.03773
NM_021922.3(FANCE):c.611C>T (p.Ser204Leu) rs7761870 0.03770
NM_006147.4(IRF6):c.820G>A (p.Val274Ile) rs2235371 0.03768
NM_016343.4(CENPF):c.6131C>T (p.Ser2044Leu) rs7533166 0.03766
NM_003924.4(PHOX2B):c.*600T>G rs73139116 0.03760
NM_130837.3(OPA1):c.2778+11C>G rs111688935 0.03759
NM_002541.4(OGDH):c.3063C>T (p.Asn1021=) rs61756584 0.03755
NM_144508.5(KNL1):c.245T>C (p.Met82Thr) rs79413475 0.03753
NM_005045.4(RELN):c.8508C>T (p.Phe2836=) rs2229862 0.03751
NM_020975.6(RET):c.*1591G>A rs76759170 0.03751
NM_003076.5(SMARCD1):c.178-9C>T rs2307082 0.03749
NM_005219.5(DIAPH1):c.390C>T (p.Tyr130=) rs34296458 0.03749
NM_006941.4(SOX10):c.*711C>T rs60962899 0.03747
NM_001367561.1(DOCK7):c.4283-4A>G rs17123688 0.03743
NM_032043.3(BRIP1):c.*1374T>C rs59115933 0.03738
NM_004544.4(NDUFA10):c.*3075T>G rs7588974 0.03737
NM_018127.7(ELAC2):c.798-20G>T rs77528900 0.03735
NM_002465.4(MYBPC1):c.3492+39C>T rs35621105 0.03732
NM_000020.3(ACVRL1):c.61+22A>G rs706812 0.03730
NM_001127649.3(PEX26):c.*754A>G rs114146293 0.03730
NM_144966.6(FREM1):c.*529C>T rs79391133 0.03729
NM_000512.5(GALNS):c.846C>T (p.Phe282=) rs35232749 0.03726
NM_145068.4(TRPV3):c.*1790G>C rs76456640 0.03723
NM_000318.3(PEX2):c.*1141G>A rs10108054 0.03721
NM_001844.5(COL2A1):c.426A>T (p.Glu142Asp) rs34392760 0.03719
NM_001127671.2(LIFR):c.*5225C>T rs58755763 0.03718
NM_000318.3(PEX2):c.*1909G>T rs112352942 0.03714
NM_018112.3(TMEM38B):c.761G>C (p.Cys254Ser) rs35232724 0.03714
NM_000318.3(PEX2):c.*2446C>T rs73242165 0.03710
NM_022458.4(LMBR1):c.*1971A>T rs12530942 0.03709
NM_001104631.2(PDE4D):c.*4660C>T rs79996648 0.03708
NM_001127671.2(LIFR):c.*4243A>G rs73749255 0.03708
NM_024809.5(TCTN2):c.-55C>A rs78846567 0.03708
NM_001104631.2(PDE4D):c.*4659T>G rs75820400 0.03706
NM_003923.3(FOXH1):c.363G>C (p.Arg121=) rs80356380 0.03705
NM_000059.4(BRCA2):c.2229T>C (p.His743=) rs1801499 0.03698
NM_052859.4(RFT1):c.*146C>T rs72965388 0.03697
NM_002076.4(GNS):c.1650T>C (p.His550=) rs2230292 0.03695
NM_000512.5(GALNS):c.510T>C (p.Tyr170=) rs3743544 0.03694
NM_000059.4(BRCA2):c.865A>C (p.Asn289His) rs766173 0.03693
NM_000719.7(CACNA1C):c.5784+199G>A rs2270372 0.03693
NM_001040167.2(LFNG):c.1002C>T (p.Tyr334=) rs61743870 0.03693
NM_005027.4(PIK3R2):c.903G>A (p.Ala301=) rs28730848 0.03689
NM_000059.4(BRCA2):c.1365A>G (p.Ser455=) rs1801439 0.03688
NM_000046.5(ARSB):c.*60G>A rs2173012 0.03683
NM_032208.3(ANTXR1):c.152+89G>C rs116312139 0.03682
NM_002890.3(RASA1):c.1777-14T>A rs36000817 0.03681
NM_052859.4(RFT1):c.*1803T>A rs114029473 0.03680
NM_052859.4(RFT1):c.*1804C>T rs114515847 0.03678
NM_001379081.2(FREM1):c.*148A>G rs11999446 0.03677
NM_000104.4(CYP1B1):c.*1871C>T rs9341266 0.03671
NM_001122630.2(CDKN1C):c.567A>G (p.Pro189=) rs529326848 0.03671
NM_000719.7(CACNA1C):c.2104-311T>C rs11831766 0.03668
NM_000318.3(PEX2):c.24G>A (p.Ala8=) rs9298285 0.03660
NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=) rs2228559 0.03652
NM_012414.4(RAB3GAP2):c.2088A>G (p.Thr696=) rs2577126 0.03652
NM_139057.4(ADAMTS17):c.*2183G>A rs148789222 0.03651
NM_020779.4(WDR35):c.*2957G>A rs76072774 0.03646
NM_001001433.3(STX16):c.*1581G>C rs73302110 0.03645
NM_020779.4(WDR35):c.549C>T (p.Tyr183=) rs34169020 0.03645
NM_005751.5(AKAP9):c.4199T>C (p.Met1400Thr) rs73407505 0.03644
NM_001358530.2(MOCS1):c.1169C>A (p.Pro390His) rs11969769 0.03639
NM_001308093.3(GATA4):c.1059C>T (p.Asn353=) rs3729855 0.03634
NM_022095.4(ZNF335):c.1623C>T (p.His541=) rs16990964 0.03634
NM_152419.3(HGSNAT):c.1567A>C (p.Lys523Gln) rs73569592 0.03631
NM_022095.4(ZNF335):c.2253+10G>T rs6130977 0.03629
NM_014141.6(CNTNAP2):c.1710G>A (p.Ser570=) rs2286128 0.03626
NM_001114753.3(ENG):c.1060C>T (p.Leu354=) rs36092484 0.03618
NM_000719.7(CACNA1C):c.5574-176C>T rs141720874 0.03610
NM_152564.5(VPS13B):c.3667-7C>T rs35543295 0.03607
NM_000284.4(PDHA1):c.-88G>A rs5955751 0.03606
NM_001194998.2(CEP152):c.*170T>C rs2169757 0.03605
NM_001122955.4(BSCL2):c.765+15C>T rs79586077 0.03596
NM_001330078.2(NRXN1):c.-883T>C rs10188340 0.03596
NM_021044.4(DHH):c.-255T>C rs59178045 0.03594
NM_005343.4(HRAS):c.-10C>T rs41294870 0.03593
NM_005996.4(TBX3):c.-727T>C rs36203374 0.03582
NM_000075.4(CDK4):c.*437C>G rs3472 0.03579
NM_203290.4(POLR1C):c.656-9C>T rs113383614 0.03573
NM_018699.4(PRDM5):c.849G>A (p.Gln283=) rs17051264 0.03566
NM_003070.5(SMARCA2):c.*698T>C rs45616134 0.03565
NM_025074.7(FRAS1):c.*3092A>G rs17003335 0.03563
NM_000075.4(CDK4):c.*370T>G rs3473 0.03562
NM_025074.7(FRAS1):c.*388C>G rs75970105 0.03561
NM_000512.5(GALNS):c.1376C>T (p.Ala459Val) rs114703967 0.03559
NM_032043.3(BRIP1):c.*4000T>C rs8077553 0.03559
NM_001106.4(ACVR2B):c.*2425G>A rs76799785 0.03558
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser) rs72546667 0.03558
NM_004370.6(COL12A1):c.6479A>T (p.Glu2160Val) rs35523808 0.03556
NM_000218.3(KCNQ1):c.*411C>T rs45460605 0.03555
NM_007055.4(POLR3A):c.2286C>T (p.His762=) rs16935534 0.03554
NM_007055.4(POLR3A):c.2394T>C (p.Cys798=) rs35536566 0.03553
NM_025132.4(WDR19):c.3250G>A (p.Gly1084Ser) rs16995209 0.03548
NM_000368.5(TSC1):c.*913C>T rs117425923 0.03547
NM_004544.4(NDUFA10):c.24G>A (p.Leu8=) rs113012830 0.03541
NM_003193.5(TBCE):c.-49T>C rs55980101 0.03537
NM_001082486.2(ACD):c.1371G>T (p.Pro457=) rs14920 0.03535
NM_001365951.3(KIF1B):c.*4392A>G rs72867441 0.03534
NM_133433.4(NIPBL):c.2469A>G (p.Lys823=) rs293756 0.03533
NM_133433.4(NIPBL):c.3015A>G (p.Leu1005=) rs1669445 0.03530
NM_000434.4(NEU1):c.-40T>G rs41267082 0.03529
NM_001134831.2(AHI1):c.-299G>A rs113052089 0.03529
NM_001999.4(FBN2):c.*819A>G rs72783099 0.03528
NM_006031.6(PCNT):c.6918T>C (p.Ala2306=) rs61738290 0.03522
NM_001365951.3(KIF1B):c.4946+9C>T rs72867431 0.03521
NM_001378964.1(CDON):c.330T>C (p.Pro110=) rs35131477 0.03518
NM_001083961.2(WDR62):c.4123G>A (p.Gly1375Ser) rs17851503 0.03516
NM_152419.3(HGSNAT):c.*1231G>A rs61743005 0.03511
NM_000318.3(PEX2):c.*2338C>T rs56231626 0.03506
NM_000168.6(GLI3):c.*726A>G rs118157739 0.03505
NM_006031.6(PCNT):c.498A>G (p.Pro166=) rs61735824 0.03505
NM_000168.6(GLI3):c.*30G>T rs77886553 0.03497
NM_144966.5(FREM1):c.*758T>A rs62534322 0.03497
NM_000168.6(GLI3):c.*655A>G rs77197280 0.03496
NM_000168.6(GLI3):c.*136T>A rs78794712 0.03493
NM_001365951.3(KIF1B):c.1365G>A (p.Thr455=) rs17034660 0.03490
NM_006031.6(PCNT):c.3580G>A (p.Ala1194Thr) rs35044802 0.03488
NM_001005498.4(RHBDF2):c.*511G>A rs11553544 0.03486
NM_001148.6(ANK2):c.2337C>T (p.Val779=) rs29341 0.03480
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321 0.03472
NM_021625.5(TRPV4):c.55C>T (p.Pro19Ser) rs3742030 0.03470
NM_001005498.4(RHBDF2):c.*51G>C rs76764510 0.03469
NM_002860.4(ALDH18A1):c.-79A>G rs117502632 0.03469
NM_007055.4(POLR3A):c.2100C>T (p.Ile700=) rs79793998 0.03469
NM_017775.4(TTC19):c.-15G>A rs73276080 0.03466
NM_002857.4(PEX19):c.*487T>A rs16831724 0.03465
NM_001379081.2(FREM1):c.2104A>G (p.Met702Val) rs7864984 0.03461
NM_012243.3(SLC35A3):c.22G>A (p.Val8Ile) rs74102304 0.03461
NM_000168.6(GLI3):c.4609C>T (p.Arg1537Cys) rs35364414 0.03460
NM_001122681.2(SH3BP2):c.*6618G>A rs75024596 0.03460
NM_000428.3(LTBP2):c.2788+13C>T rs78258030 0.03459
NM_000168.6(GLI3):c.*1087A>T rs76023240 0.03456
NM_000168.6(GLI3):c.4007G>A (p.Gly1336Glu) rs35280470 0.03456
NM_001122681.2(SH3BP2):c.*6603G>A rs77813357 0.03455
NM_000168.6(GLI3):c.*847C>A rs116986447 0.03453
NM_001953.5(TYMP):c.831G>A (p.Leu277=) rs8141558 0.03453
NM_000352.6(ABCC8):c.-49G>C rs77498130 0.03452
NM_001159773.2(CANT1):c.1056C>T (p.Asn352=) rs3803781 0.03451
NM_198173.3(GRHL3):c.479T>C (p.Val160Ala) rs34637004 0.03450
NM_000514.4(GDNF):c.*2204G>T rs72745194 0.03446
NM_003924.4(PHOX2B):c.762A>C (p.Ala254=) rs17884724 0.03446
NM_007055.4(POLR3A):c.240A>C (p.Leu80=) rs12248310 0.03445
NM_001001433.3(STX16):c.443G>A (p.Arg148Gln) rs41276950 0.03442
NM_000136.3(FANCC):c.*116A>C rs7048910 0.03439
NM_024312.5(GNPTAB):c.*43C>T rs79089208 0.03438
NM_002449.5(MSX2):c.*658C>T rs10044147 0.03436
NM_024312.5(GNPTAB):c.*814T>G rs7974637 0.03436
NM_002860.4(ALDH18A1):c.1770C>T (p.Ser590=) rs11541780 0.03433
NM_003072.5(SMARCA4):c.1413G>A (p.Lys471=) rs17001073 0.03431
NM_002617.4(PEX10):c.*11G>A rs3795270 0.03427
NM_000135.4(FANCA):c.*673A>G rs62704561 0.03426
NM_001365951.3(KIF1B):c.3398A>G (p.Tyr1133Cys) rs2297881 0.03425
NM_015335.5(MED13L):c.579T>C (p.Asn193=) rs11067880 0.03424
NM_000199.5(SGSH):c.664-50G>A rs117217614 0.03422
NM_000719.7(CACNA1C):c.1481+777C>A rs58270510 0.03420
NM_001365951.3(KIF1B):c.-208G>C rs146663377 0.03420
NM_017775.4(TTC19):c.573G>A (p.Ala191=) rs58517927 0.03420
NM_001101.5(ACTB):c.942G>A (p.Gln314=) rs11546939 0.03418
NM_006129.5(BMP1):c.2205C>G (p.Leu735=) rs28710878 0.03417
NM_000318.3(PEX2):c.*2142A>G rs79700176 0.03415
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val) rs35874463 0.03414
NM_013275.6(ANKRD11):c.4932G>A (p.Gly1644=) rs72821356 0.03413
NM_015450.3(POT1):c.1884A>C (p.Thr628=) rs17147565 0.03412
NM_007055.4(POLR3A):c.*1862G>A rs12572507 0.03410
NM_013275.6(ANKRD11):c.6787C>T (p.Pro2263Ser) rs76793093 0.03409
NM_032444.4(SLX4):c.3162G>A (p.Ser1054=) rs76488917 0.03405
NM_005045.4(RELN):c.7530C>T (p.Pro2510=) rs2075038 0.03404
NM_001122681.2(SH3BP2):c.*3350C>G rs114672897 0.03402
NM_006031.6(PCNT):c.6571T>C (p.Ser2191Pro) rs34151633 0.03401
NM_001282531.3(ADNP):c.2076G>A (p.Lys692=) rs6096168 0.03400
NM_152564.5(VPS13B):c.11565A>G (p.Ser3855=) rs7844645 0.03400
NM_001394062.1(MACF1):c.19149A>C (p.Thr6383=) rs11206102 0.03394
NM_005188.4(CBL):c.2592C>T (p.Leu864=) rs1893177 0.03391
NM_198173.3(GRHL3):c.1451A>G (p.Asn484Ser) rs116396279 0.03385
NM_001122681.2(SH3BP2):c.*6109A>G rs114105937 0.03378
NM_000075.4(CDK4):c.*521G>A rs113625101 0.03374
NM_000719.7(CACNA1C):c.4957-207C>T rs111800411 0.03372
NM_001122681.2(SH3BP2):c.*3015G>A rs112364375 0.03370
NM_005359.6(SMAD4):c.*685A>C rs16952798 0.03369
NM_182760.4(SUMF1):c.*292T>A rs74979662 0.03368
NM_002148.4(HOXD10):c.*55G>T rs61070787 0.03367
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser) rs35830636 0.03364
NM_001136193.2(FASTKD2):c.*557A>G rs7559712 0.03356
NM_000685.5(AGTR1):c.*317G>A rs5188 0.03346
NM_000466.3(PEX1):c.473-18G>A rs2066743 0.03344
NM_001159773.2(CANT1):c.*964A>G rs75126416 0.03342
NM_000047.3(ARSL):c.549C>T (p.Arg183=) rs5982618 0.03335
NM_001018115.3(FANCD2):c.2269+37A>G rs34323624 0.03335
NM_003640.5(ELP1):c.3037G>A (p.Gly1013Ser) rs2230795 0.03328
NM_014244.5(ADAMTS2):c.2959-16G>A rs6863024 0.03326
NM_017866.6(TMEM70):c.*785G>A rs66498650 0.03323
NM_001122681.2(SH3BP2):c.*42C>T rs115443380 0.03322
NM_001271938.2(MEGF8):c.4020C>T (p.Tyr1340=) rs35473255 0.03322
NM_016277.5(RAB23):c.*2425G>A rs62415930 0.03322
NM_030957.4(ADAMTS10):c.3102G>A (p.Thr1034=) rs10405956 0.03322
NM_001365276.2(TNXB):c.4241G>A (p.Arg1414Gln) rs9267799 0.03318
NM_000126.4(ETFA):c.733+38T>C rs78052129 0.03317
NM_001083961.2(WDR62):c.562-13C>T rs78138007 0.03315
NM_000168.6(GLI3):c.-42-11G>C rs80019165 0.03314
NM_000553.6(WRN):c.*570A>G rs11574415 0.03313
NM_001083961.2(WDR62):c.3401T>G (p.Met1134Arg) rs61741470 0.03313
NM_000256.3(MYBPC3):c.2737+12C>T rs3729936 0.03309
NM_018006.5(TRMU):c.1192C>T (p.Arg398Cys) rs34152016 0.03308
NM_005045.4(RELN):c.5351+3A>G rs6967725 0.03307
NM_001122681.2(SH3BP2):c.*2342C>T rs75702090 0.03306
NM_001999.4(FBN2):c.203C>T (p.Ala68Val) rs62390671 0.03303
NM_003640.5(ELP1):c.*861T>G rs74671462 0.03303
NM_000135.4(FANCA):c.1941G>A (p.Glu647=) rs17232917 0.03300
NM_001113378.2(FANCI):c.1294-8C>T rs16942931 0.03299
NM_020533.3(MCOLN1):c.1575+69G>A rs141657649 0.03298
NM_001271938.2(MEGF8):c.5475G>A (p.Leu1825=) rs116630802 0.03297
NM_002272.4(KRT4):c.1381+15C>T rs7952923 0.03297
NM_000135.4(FANCA):c.*252G>C rs17233797 0.03296
NM_005529.7(HSPG2):c.12558C>T (p.Ser4186=) rs11552570 0.03296
NM_001113378.2(FANCI):c.2028C>T (p.Ala676=) rs16942969 0.03295
NM_014140.4(SMARCAL1):c.1129G>C (p.Glu377Gln) rs2066518 0.03294
NM_001122681.2(SH3BP2):c.*2579C>T rs77430059 0.03292
NM_000046.5(ARSB):c.*202A>G rs73770019 0.03289
NM_000318.3(PEX2):c.*1696C>T rs112199677 0.03286
NM_000553.6(WRN):c.-163C>G rs11574160 0.03283
NM_001127671.2(LIFR):c.991+80G>T rs6451387 0.03281
NM_014846.4(WASHC5):c.186+17G>A rs59134934 0.03280
NM_206937.2(LIG4):c.*1081C>T rs113388531 0.03279
NM_206937.2(LIG4):c.*826A>T rs116018061 0.03278
NM_206937.2(LIG4):c.*685T>C rs116798101 0.03277
NM_206937.2(LIG4):c.*983G>A rs75642465 0.03277
NM_206937.2(LIG4):c.807C>T (p.Tyr269=) rs2232638 0.03276
NM_206937.2(LIG4):c.*204A>G rs3093769 0.03275
NM_001358530.2(MOCS1):c.*1928C>G rs73414848 0.03274
NM_018006.5(TRMU):c.*151C>T rs116347546 0.03272
NM_206937.2(LIG4):c.*131A>T rs3093768 0.03272
NM_206937.2(LIG4):c.2569G>A (p.Ala857Thr) rs2232642 0.03272
NM_001122681.2(SH3BP2):c.*1935C>T rs143834837 0.03270
NM_000284.4(PDHA1):c.604-15C>T rs13440874 0.03269
NM_004629.2(FANCG):c.1133C>T (p.Ser378Leu) rs4986939 0.03269
NM_000553.5(WRN):c.-408C>T rs11574156 0.03268
NM_001122681.2(SH3BP2):c.*1860C>T rs149002598 0.03268
NM_001122681.2(SH3BP2):c.*2623G>T rs76564843 0.03268
NM_021044.4(DHH):c.*87G>T rs75012285 0.03268
NM_001122681.2(SH3BP2):c.*2012G>A rs147974238 0.03266
NM_001122681.2(SH3BP2):c.*4563A>C rs75884292 0.03266
NM_001128178.3(NPHP1):c.771+39C>T rs73954628 0.03266
NM_001122681.2(SH3BP2):c.*1798T>C rs116575715 0.03262
NM_001276345.2(TNNT2):c.610-90G>A rs11810834 0.03251
NM_005529.7(HSPG2):c.*992C>T rs1049675 0.03248
NM_006494.4(ERF):c.1104T>C (p.Ser368=) rs76105803 0.03247
NM_030957.4(ADAMTS10):c.2584G>T (p.Ala862Ser) rs10418929 0.03247
NM_005529.7(HSPG2):c.11601C>T (p.Tyr3867=) rs112494360 0.03245
NM_206937.2(LIG4):c.-7C>T rs4987182 0.03244
NM_003924.4(PHOX2B):c.870C>A (p.Pro290=) rs17885864 0.03243
NM_153717.3(EVC):c.1096C>T (p.Leu366=) rs6854138 0.03243
NM_005006.7(NDUFS1):c.*733A>G rs6707707 0.03241
NM_001394062.1(MACF1):c.3696G>A (p.Glu1232=) rs74066738 0.03228
NM_006371.5(CRTAP):c.*269C>T rs143237314 0.03228
NM_003052.5(SLC34A1):c.*202A>C rs6556319 0.03226
NM_000751.3(CHRND):c.120G>A (p.Lys40=) rs55921262 0.03225
NM_005271.5(GLUD1):c.1060-10T>A rs17096421 0.03225
NM_024426.6(WT1):c.*820G>C rs1042347 0.03223
NM_001159773.2(CANT1):c.*664T>C rs79189369 0.03215
NM_001159773.2(CANT1):c.*671T>C rs114125762 0.03215
NM_000540.3(RYR1):c.9555-13C>T rs2960328 0.03214
NM_000493.4(COL10A1):c.*416G>A rs78400291 0.03210
NM_000942.5(PPIB):c.63C>A (p.Ser21=) rs4904 0.03210
NM_004782.4(SNAP29):c.*2795C>T rs9625042 0.03210
NM_004208.4(AIFM1):c.918C>T (p.Ile306=) rs12014115 0.03205
NM_001018115.3(FANCD2):c.2712C>T (p.Asn904=) rs35594075 0.03203
NM_002541.4(OGDH):c.396G>A (p.Ser132=) rs41280648 0.03200
NM_007055.4(POLR3A):c.*690C>T rs74451934 0.03200
NM_001235.5(SERPINH1):c.-19C>T rs78910605 0.03199
NM_014762.4(DHCR24):c.*788A>G rs9436941 0.03198
NM_000719.7(CACNA1C):c.4074+153G>A rs45616033 0.03195
NM_014762.4(DHCR24):c.*462G>A rs648804 0.03193
NM_002010.3(FGF9):c.*496C>T rs9509843 0.03191
NM_002334.4(LRP4):c.1501A>C (p.Asn501His) rs72897663 0.03190
NM_015713.5(RRM2B):c.*2097T>A rs116394626 0.03190
NM_182760.4(SUMF1):c.*552T>G rs10514655 0.03190
NM_001235.5(SERPINH1):c.955-6C>A rs7105575 0.03189
NM_020745.4(AARS2):c.2188G>A (p.Val730Met) rs35623954 0.03189
NM_015713.5(RRM2B):c.*2035A>G rs1055958 0.03186
NM_000428.3(LTBP2):c.*1957A>G rs73296215 0.03184
NM_130837.3(OPA1):c.1773A>C (p.Ala591=) rs78767626 0.03184
NM_002635.4(SLC25A3):c.436T>C (p.Leu146=) rs11544648 0.03180
NM_006918.5(SC5D):c.*5224A>G rs76249891 0.03180
NM_001235.5(SERPINH1):c.-73G>A rs78251872 0.03179
NM_000036.3(AMPD1):c.215+10G>A rs6683173 0.03175
NM_001453.3(FOXC1):c.1563T>G (p.Ser521=) rs73406891 0.03175
NM_000093.5(COL5A1):c.2892C>T (p.Gly964=) rs78511105 0.03168
NM_018006.5(TRMU):c.552C>T (p.Ala184=) rs35772382 0.03164
NM_000143.4(FH):c.1302C>T (p.Cys434=) rs2070080 0.03163
NM_022370.4(ROBO3):c.1267G>A (p.Val423Met) rs4935898 0.03162
NM_022336.4(EDAR):c.*1900C>T rs200762071 0.03161
NM_012330.4(KAT6B):c.4278C>T (p.Ala1426=) rs3740322 0.03160
NM_013352.4(DSE):c.53G>T (p.Cys18Phe) rs76186865 0.03160
NM_001194998.2(CEP152):c.3317T>C (p.Val1106Ala) rs16961557 0.03157
NM_025136.4(OPA3):c.142+69G>C rs62111684 0.03152
NM_012330.4(KAT6B):c.4495G>A (p.Val1499Ile) rs3740321 0.03151
NM_153240.5(NPHP3):c.*657C>T rs79224795 0.03141
NM_002449.5(MSX2):c.-17C>G rs4647952 0.03140
NM_000095.3(COMP):c.1156A>G (p.Asn386Asp) rs61739916 0.03133
NM_000203.5(IDUA):c.300-44C>T rs3755956 0.03133
NM_000112.4(SLC26A2):c.*4460G>T rs111742763 0.03131
NM_001358530.2(MOCS1):c.583+6C>T rs111409017 0.03125
NM_000219.6(KCNE1):c.*1068A>C rs41314803 0.03124
NM_020184.4(CNNM4):c.*1990T>A rs7585552 0.03121
NM_000138.5(FBN1):c.*2040T>C rs73390272 0.03120
NM_000719.7(CACNA1C):c.1482-296C>G rs140903845 0.03120
NM_000138.5(FBN1):c.*1959G>A rs12050562 0.03119
NM_000719.7(CACNA1C):c.1482-177A>G rs117791272 0.03118
NM_001365999.1(SZT2):c.5385T>G (p.Ser1795=) rs12129487 0.03117
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045 0.03116
NM_001291867.2(NHS):c.211C>T (p.Pro71Ser) rs398124605 0.03116
NM_000789.4(ACE):c.3380+5C>T rs12720737 0.03115
NM_003193.5(TBCE):c.100+13T>G rs199696216 0.03115
NM_002427.4(MMP13):c.800-9C>T rs17860556 0.03114
NM_020937.4(FANCM):c.2670T>C (p.Phe890=) rs8017226 0.03114
NM_001018115.3(FANCD2):c.571-31G>A rs35749514 0.03113
NM_002857.4(PEX19):c.*1084T>C rs77962224 0.03113
NM_198174.3(GRHL3):c.1696G>A (p.Glu566Lys) rs6694170 0.03111
NM_002427.4(MMP13):c.*314T>C rs17860584 0.03109
NM_001453.3(FOXC1):c.889C>T (p.Pro297Ser) rs79691946 0.03108
NM_000262.3(NAGA):c.*143C>T rs17002832 0.03106
NM_022369.4(STRA6):c.*489T>C rs75117524 0.03106
NM_004239.4(TRIP11):c.5255G>A (p.Arg1752Lys) rs11851376 0.03105
NM_032208.3(ANTXR1):c.379-32T>G rs77557115 0.03102
NM_001453.3(FOXC1):c.405C>T (p.Cys135=) rs2230096 0.03096
NM_001148.4(ANK2):c.*7C>T rs35446871 0.03095
NM_002641.4(PIGA):c.55C>T (p.Arg19Trp) rs34422225 0.03093
NM_024312.5(GNPTAB):c.*1457A>G rs10219650 0.03091
NM_000414.4(HSD17B4):c.2182A>G (p.Met728Val) rs28943594 0.03090
NM_001384732.1(CPLANE1):c.378G>A (p.Gly126=) rs73750958 0.03087
NM_006767.4(LZTR1):c.1962C>T (p.Asp654=) rs1131176 0.03087
NM_032043.3(BRIP1):c.94-18T>G rs2138005 0.03086
NM_022039.4(FBXW4):c.534C>G (p.Ala178=) rs61761937 0.03084
NM_000256.3(MYBPC3):c.2547C>T (p.Val849=) rs3729953 0.03083
NM_006031.6(PCNT):c.3339T>C (p.Ser1113=) rs61735805 0.03082
NM_000557.5(GDF5):c.497C>A (p.Pro166His) rs61754581 0.03081
NM_000112.4(SLC26A2):c.*590C>T rs1046710 0.03077
NM_001203.3(BMPR1B):c.*3303G>A rs12505161 0.03077
NM_001365951.3(KIF1B):c.*3154A>G rs41310365 0.03073
NM_017780.4(CHD7):c.6135G>A (p.Pro2045=) rs6999971 0.03071
NM_000112.4(SLC26A2):c.*1631C>T rs7717795 0.03068
NM_007055.4(POLR3A):c.*426C>T rs76696077 0.03063
NM_007055.4(POLR3A):c.*1680C>G rs80022412 0.03062
NM_022370.4(ROBO3):c.3184G>A (p.Ala1062Thr) rs111277969 0.03062
NM_004208.4(AIFM1):c.996A>G (p.Gln332=) rs12007545 0.03061
NM_004560.4(ROR2):c.276C>T (p.Asn92=) rs56227711 0.03061
NM_198239.2(CCN6):c.178C>T (p.Arg60Cys) rs17073260 0.03059
NM_006129.5(BMP1):c.2575+14T>C rs28374147 0.03056
NM_005751.5(AKAP9):c.3318+13C>A rs73403768 0.03055
NM_005908.4(MANBA):c.*317A>G rs78514870 0.03053
NM_020458.4(TTC7A):c.1860C>T (p.Leu620=) rs13427658 0.03052
NM_000089.4(COL1A2):c.3712-13C>T rs74335369 0.03051
NM_147127.5(EVC2):c.3023C>T (p.Ser1008Leu) rs60809236 0.03040
NM_001083961.2(WDR62):c.3639C>T (p.Ser1213=) rs45470992 0.03038
NM_000540.3(RYR1):c.7260C>T (p.His2420=) rs12973632 0.03031
NM_003072.5(SMARCA4):c.2123+12C>T rs17001090 0.03024
NM_020320.5(RARS2):c.703G>A (p.Val235Met) rs35862137 0.03019
NM_139057.4(ADAMTS17):c.*439G>A rs140255903 0.03019
NM_000489.6(ATRX):c.228G>A (p.Ser76=) rs5959371 0.03016
NM_001083962.2(TCF4):c.*2951A>G rs76640061 0.03016
NM_003072.5(SMARCA4):c.1509A>G (p.Ala503=) rs17001075 0.03015
NM_005996.4(TBX3):c.1126T>A (p.Ser376Thr) rs78115331 0.03014
NM_020937.4(FANCM):c.6141T>C (p.Asp2047=) rs8018014 0.03012
NM_001018115.3(FANCD2):c.1509C>T (p.Asn503=) rs6785756 0.03005
NM_002485.5(NBN):c.*937T>C rs11987865 0.03004
NM_022458.4(LMBR1):c.357T>C (p.Cys119=) rs112583005 0.03004
NM_000135.4(FANCA):c.1360-7C>T rs17232616 0.03003
NM_022336.4(EDAR):c.*1133C>T rs114097029 0.03003
NM_002485.5(NBN):c.*790T>G rs11987887 0.03002
NC_000016.10:g.67660703A>G rs72547496 0.03001
NM_015338.6(ASXL1):c.3973C>T (p.Leu1325Phe) rs6057581 0.03000
NM_005529.7(HSPG2):c.12212C>T (p.Ala4071Val) rs74859884 0.02997
NM_024312.5(GNPTAB):c.3602+8C>A rs79493678 0.02992
NM_000316.3(PTH1R):c.543+14T>C rs114449768 0.02990
NM_014244.5(ADAMTS2):c.1908C>T (p.His636=) rs1862211 0.02988
NM_001042545.2(LTBP4):c.1702C>G (p.Arg568Gly) rs33937741 0.02986
NM_002693.3(POLG):c.2958C>T (p.Tyr986=) rs2307431 0.02985
NM_006129.5(BMP1):c.1766-5C>T rs76809016 0.02982
NM_000719.7(CACNA1C):c.372-15G>A rs55792866 0.02977
NM_000514.4(GDNF):c.*1785G>T rs115322727 0.02975
NM_000719.7(CACNA1C):c.3913-6516G>A rs75047029 0.02975
NM_001077446.4(TSEN34):c.*928A>G rs144441443 0.02975
NM_001104631.2(PDE4D):c.*2329G>A rs74710642 0.02975
NM_002860.4(ALDH18A1):c.1977C>T (p.Ser659=) rs1804934 0.02975
NM_003242.6(TGFBR2):c.1266A>G (p.Ala422=) rs2228047 0.02974
NM_018006.5(TRMU):c.10T>G (p.Leu4Val) rs114302881 0.02970
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) rs2237857 0.02968
NM_001369268.1(ACAN):c.1515G>A (p.Ala505=) rs34957282 0.02963
NM_001369268.1(ACAN):c.1719A>G (p.Val573=) rs57669733 0.02962
NM_018475.5(TMEM165):c.-147T>C rs116687212 0.02961
NM_001151.4(SLC25A4):c.*873G>A rs76680834 0.02960
NM_001369268.1(ACAN):c.1850G>A (p.Arg617His) rs34616796 0.02960
NM_001369268.1(ACAN):c.1530G>A (p.Pro510=) rs34637731 0.02958
NM_030957.4(ADAMTS10):c.1900+11G>C rs78421590 0.02958
NM_001369268.1(ACAN):c.1866C>T (p.Cys622=) rs35652696 0.02956
NM_002524.5(NRAS):c.*687A>G rs9724644 0.02952
NM_012233.3(RAB3GAP1):c.1992G>A (p.Ser664=) rs7595725 0.02952
NM_030957.4(ADAMTS10):c.185G>A (p.Arg62Gln) rs62621197 0.02952
NM_080680.3(COL11A2):c.-200G>A rs144092339 0.02950
NM_001382391.1(CSPP1):c.-34C>G rs117210747 0.02944
NM_024596.5(MCPH1):c.1728C>T (p.Gly576=) rs41313954 0.02943
NM_001384732.1(CPLANE1):c.5343A>T (p.Thr1781=) rs73750949 0.02942
NM_000503.6(EYA1):c.556+18G>T rs113694988 0.02938
NM_001379081.2(FREM1):c.273T>C (p.Tyr91=) rs61740262 0.02932
NM_005257.6(GATA6):c.1302+20C>T rs56314574 0.02932
NM_000135.4(FANCA):c.*385C>G rs17227424 0.02929
NM_002474.3(MYH11):c.*5C>G rs1875184 0.02929
NM_002485.5(NBN):c.*1692A>G rs13312986 0.02926
NM_002485.5(NBN):c.*2212G>A rs10464867 0.02921
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247 0.02918
NM_213599.3(ANO5):c.1898+29G>T rs76084798 0.02917
NM_001148.6(ANK2):c.3510A>G (p.Val1170=) rs35336373 0.02906
NM_001291867.2(NHS):c.3201T>C (p.Ser1067=) rs56908561 0.02903
NM_001367624.2(ZNF469):c.8212G>A (p.Ala2738Thr) rs3812955 0.02902
NM_001291867.2(NHS):c.3204A>G (p.Leu1068=) rs56691712 0.02899
NM_003722.5(TP63):c.*638C>G rs6444406 0.02897
NM_001379081.2(FREM1):c.2641-10C>T rs117608184 0.02896
NM_004782.4(SNAP29):c.*740C>T rs79383799 0.02894
NM_138295.5(PKD1L1):c.933T>C (p.Arg311=) rs75505495 0.02894
NM_001235.5(SERPINH1):c.*490G>A rs12978 0.02893
NM_001365951.3(KIF1B):c.-80+1G>T rs140240544 0.02890
NM_004168.4(SDHA):c.113A>T (p.Asp38Val) rs34635677 0.02888
NM_006121.4(KRT1):c.75C>T (p.Ile25=) rs828367 0.02886
NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr) rs5030739 0.02886
NM_001084.5(PLOD3):c.570C>T (p.Asp190=) rs35159414 0.02885
NM_021252.5(RAB18):c.592G>A (p.Ala198Thr) rs11015859 0.02882
NM_001077446.4(TSEN34):c.*1128G>T rs79447697 0.02881
NM_000143.4(FH):c.309C>T (p.Ala103=) rs10926501 0.02876
NM_133259.4(LRPPRC):c.3570-3C>T rs35113761 0.02876
NM_133459.4(CCBE1):c.*3162T>C rs78990130 0.02874
NM_004782.4(SNAP29):c.*3015G>A rs145199625 0.02873
NM_001374353.1(GLI2):c.3831G>A (p.Thr1277=) rs115052795 0.02871
NM_005921.2(MAP3K1):c.2816C>G (p.Ser939Cys) rs45556841 0.02871
NM_017617.5(NOTCH1):c.7233A>G (p.Pro2411=) rs11574911 0.02871
NM_001793.6(CDH3):c.1257G>A (p.Lys419=) rs11860187 0.02870
NM_001365951.3(KIF1B):c.*1118G>A rs7544928 0.02869
NM_001106.4(ACVR2B):c.*3316G>A rs6790964 0.02867
NM_001330677.2(TBX15):c.1477C>G (p.Pro493Ala) rs17022678 0.02867
NM_001384732.1(CPLANE1):c.94G>A (p.Val32Ile) rs73750959 0.02866
NM_000141.5(FGFR2):c.-318G>C rs41301547 0.02864
NM_003119.4(SPG7):c.2292C>T (p.Ile764=) rs61747711 0.02864
NM_020312.4(COQ9):c.102G>A (p.Pro34=) rs223864 0.02864
NM_198525.3(KIF7):c.2043T>A (p.Val681=) rs72750755 0.02861
NM_000047.3(ARSL):c.157A>G (p.Ile53Val) rs61733256 0.02854
NM_015338.6(ASXL1):c.582C>T (p.His194=) rs116633791 0.02852
NM_030632.3(ASXL3):c.4036A>G (p.Ile1346Val) rs61995734 0.02849
NM_001852.4(COL9A2):c.1161+10T>A rs117563156 0.02847
NM_001379286.1(ZNF423):c.1869G>A (p.Pro623=) rs16947741 0.02845
NM_014846.4(WASHC5):c.1408+7A>G rs16900312 0.02845
NM_014846.4(WASHC5):c.1151-8G>A rs16900335 0.02839
NM_014846.4(WASHC5):c.1245A>G (p.Leu415=) rs10429323 0.02837
NM_181523.3(PIK3R1):c.621T>C (p.Ile207=) rs61749601 0.02836
NM_000789.4(ACE):c.781G>T (p.Ala261Ser) rs4303 0.02833
NM_018006.5(TRMU):c.927C>T (p.Arg309=) rs9627420 0.02832
NM_003321.5(TUFM):c.198C>T (p.Ile66=) rs11542257 0.02831
NM_000135.4(FANCA):c.3348+18A>G rs1800347 0.02828
NM_002635.4(SLC25A3):c.*221T>G rs115173420 0.02826
NM_021252.5(RAB18):c.*3584C>T rs11015862 0.02826
NM_000262.3(NAGA):c.*1814C>T rs80313011 0.02824
NM_000264.5(PTCH1):c.*1702C>T rs115675849 0.02824
NM_005105.5(RBM8A):c.479+15G>A rs114923929 0.02823
NM_022039.4(FBXW4):c.216G>A (p.Gly72=) rs77990860 0.02820
NM_005359.6(SMAD4):c.*1179T>C rs10470 0.02819
NM_013352.4(DSE):c.844A>G (p.Ile282Val) rs34994230 0.02817
NM_000020.3(ACVRL1):c.*2313G>A rs61914025 0.02816
NM_025074.7(FRAS1):c.6608C>T (p.Thr2203Ile) rs114373602 0.02814
NM_025074.7(FRAS1):c.6691G>A (p.Gly2231Arg) rs76623027 0.02812
NM_025074.7(FRAS1):c.6754G>A (p.Ala2252Thr) rs78404051 0.02812
NM_001374828.1(ARID1B):c.5001G>A (p.Pro1667=) rs61738955 0.02808
NM_002334.4(LRP4):c.4837+10C>T rs74806847 0.02807
NM_000501.4(ELN):c.2033-16A>G rs45618836 0.02805
NM_025074.7(FRAS1):c.6010+13C>T rs75774018 0.02805
NM_025074.7(FRAS1):c.6039T>C (p.Ser2013=) rs76472539 0.02805
NM_001303.4(COX10):c.1038G>A (p.Ser346=) rs2230355 0.02804
NM_004560.4(ROR2):c.1710G>A (p.Pro570=) rs41277837 0.02804
NM_025074.7(FRAS1):c.6010+10G>A rs78537685 0.02804
NM_024009.3(GJB3):c.598G>A (p.Val200Ile) rs61734064 0.02803
NM_030632.3(ASXL3):c.2511C>T (p.Thr837=) rs61729751 0.02802
NM_003070.5(SMARCA2):c.717G>A (p.Pro239=) rs10964525 0.02801
NM_018136.5(ASPM):c.5083C>T (p.Arg1695Cys) rs80238010 0.02796
NM_024009.3(GJB3):c.477G>A (p.Pro159=) rs61732640 0.02796
NM_000280.4(PAX6):c.*3736_*3737delCA rs141022497 0.02792
NM_001122630.2(CDKN1C):c.-11+60G>A rs143992355 0.02792
NM_018238.4(AGK):c.*1175C>T rs71545336 0.02792
NM_004525.3(LRP2):c.7894A>G (p.Asn2632Asp) rs17848169 0.02788
NM_153717.3(EVC):c.939+11G>T rs55955937 0.02788
NM_012233.3(RAB3GAP1):c.*135C>G rs10170125 0.02787
NM_052859.4(RFT1):c.*1975C>T rs75112182 0.02786
NM_001370259.2(MEN1):c.435C>T (p.Ser145=) rs61736636 0.02784
NM_014141.6(CNTNAP2):c.*3392C>T rs115420302 0.02775
NM_001379286.1(ZNF423):c.1910A>G (p.Asn637Ser) rs34214571 0.02773
NM_004304.5(ALK):c.3408C>T (p.Ser1136=) rs56146053 0.02769
NM_001018115.3(FANCD2):c.2124T>C (p.Phe708=) rs9809716 0.02768
NM_025074.7(FRAS1):c.682T>C (p.Tyr228His) rs7682296 0.02766
NM_013296.5(GPSM2):c.828A>G (p.Lys276=) rs338489 0.02763
NM_025074.7(FRAS1):c.625C>T (p.Pro209Ser) rs7699637 0.02763
NM_022369.4(STRA6):c.*569T>C rs78299262 0.02762
NM_000138.5(FBN1):c.6855T>C (p.Asp2285=) rs363836 0.02755
NM_017668.3(NDE1):c.837C>T (p.Tyr279=) rs17283846 0.02753
NM_001148.6(ANK2):c.384+19C>T rs45502093 0.02751
NM_000136.3(FANCC):c.*2552T>C rs9673 0.02750
NM_020975.6(RET):c.1264-5C>T rs9282835 0.02749
NM_138959.3(VANGL1):c.*2043C>T rs74117021 0.02749
NM_030777.4(SLC2A10):c.1552A>G (p.Thr518Ala) rs6018008 0.02748
NM_000168.6(GLI3):c.-94C>G rs112754065 0.02747
NM_018668.5(VPS33B):c.609A>G (p.Ala203=) rs76867988 0.02746
NM_014244.5(ADAMTS2):c.936C>T (p.Asn312=) rs35462609 0.02744
NM_014918.5(CHSY1):c.1473A>G (p.Gln491=) rs76457230 0.02740
NM_015272.5(RPGRIP1L):c.2231G>A (p.Arg744Gln) rs2302677 0.02738
NC_000007.14:g.156779610T>C rs6970048 0.02733
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_001128178.3(NPHP1):c.115C>A (p.Pro39Thr) rs33958626 0.02731
NM_018006.5(TRMU):c.9C>G (p.Ala3=) rs75417986 0.02729
NM_015713.5(RRM2B):c.207C>T (p.Val69=) rs28999710 0.02727
NM_022458.4(LMBR1):c.*91C>T rs75853117 0.02727
NM_001174147.2(LMX1B):c.*1716A>G rs116411474 0.02725
NM_001394062.1(MACF1):c.21197-6T>C rs74326877 0.02725
NM_002449.5(MSX2):c.*416A>C rs10038500 0.02725
NM_024809.5(TCTN2):c.-95G>A rs7980060 0.02722
NM_182943.3(PLOD2):c.*171T>G rs13079521 0.02719
NM_206937.2(LIG4):c.-101-172C>T rs1805387 0.02719
NM_032634.4(PIGO):c.3114C>T (p.Leu1038=) rs2298314 0.02715
NM_000088.4(COL1A1):c.3223G>A (p.Ala1075Thr) rs1800215 0.02714
NM_005138.3(SCO2):c.327C>T (p.His109=) rs75485962 0.02713
NM_001368894.2(PAX6):c.-129+9G>A rs56139994 0.02711
NM_005413.4(SIX3):c.576C>T (p.Arg192=) rs182881 0.02708
NM_005732.4(RAD50):c.551+85A>G rs75639632 0.02708
NM_000478.6(ALPL):c.*305C>T rs76073898 0.02707
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly) rs2307441 0.02704
NM_002524.5(NRAS):c.*2662G>A rs148827219 0.02701
NM_000093.5(COL5A1):c.4230+6G>A rs77176843 0.02700
NM_000478.6(ALPL):c.*460G>A rs114552089 0.02700
NM_021625.5(TRPV4):c.2459-9T>G rs115373018 0.02700
NM_002524.5(NRAS):c.*2667T>C rs145382662 0.02698
NM_015713.4(RRM2B):c.-153G>T rs2290707 0.02697
NM_018122.5(DARS2):c.587A>G (p.Lys196Arg) rs35515638 0.02693
NM_004304.5(ALK):c.*53G>C rs80088378 0.02692
NM_032861.4(SERAC1):c.1403+12G>A rs117813106 0.02692
NM_000108.5(DLD):c.685-14T>A rs80111449 0.02691
NM_018122.5(DARS2):c.663+8T>C rs73037062 0.02691
NM_000466.3(PEX1):c.2584-20T>A rs111535201 0.02687
NM_016013.4(NDUFAF1):c.526G>A (p.Glu176Lys) rs35227875 0.02686
NM_139057.4(ADAMTS17):c.*700G>A rs60022871 0.02686
NM_001931.5(DLAT):c.693C>T (p.Thr231=) rs34680691 0.02685
NM_145068.4(TRPV3):c.*2087T>G rs115011025 0.02679
NM_025074.7(FRAS1):c.470-4C>G rs59429199 0.02676
NM_005257.6(GATA6):c.851C>G (p.Ala284Gly) rs185325359 0.02672
NM_000368.5(TSC1):c.*1487C>T rs79277527 0.02671
NM_145691.4(ATPAF2):c.738G>A (p.Gln246=) rs33997182 0.02668
NM_002449.5(MSX2):c.*349T>C rs114567531 0.02667
NM_147127.5(EVC2):c.1059C>T (p.Gly353=) rs77793386 0.02666
NM_004525.3(LRP2):c.12151+4T>C rs17848192 0.02665
NM_001369268.1(ACAN):c.1051+9C>T rs140556803 0.02664
NM_001378964.1(CDON):c.*3076T>A rs73019370 0.02663
NM_004260.4(RECQL4):c.1772C>T (p.Pro591Leu) rs2721191 0.02663
NM_001018115.3(FANCD2):c.64+12G>C rs9833228 0.02661
NM_005732.4(RAD50):c.2025C>T (p.Asp675=) rs34147298 0.02660
NM_025074.7(FRAS1):c.7758C>T (p.Ile2586=) rs77602894 0.02660
NM_213599.3(ANO5):c.2521-13A>G rs76850415 0.02660
NM_007055.4(POLR3A):c.*1782G>A rs11817392 0.02657
NM_025074.7(FRAS1):c.7701G>A (p.Lys2567=) rs79849142 0.02656
NM_001005498.4(RHBDF2):c.*580C>T rs111924263 0.02655
NM_001127649.3(PEX26):c.*2878C>T rs116424707 0.02655
NM_004415.4(DSP):c.913A>T (p.Ile305Phe) rs17604693 0.02655
NM_007055.4(POLR3A):c.*1589G>A rs16935486 0.02655
NM_000302.4(PLOD1):c.177C>T (p.Gly59=) rs34032489 0.02651
NM_000280.4(PAX6):c.*2305G>A rs73477656 0.02650
NM_004525.3(LRP2):c.11759-11T>G rs17848191 0.02650
NM_003321.5(TUFM):c.*24C>T rs8754 0.02648
NM_000751.3(CHRND):c.*1025A>G rs115132742 0.02647
NM_003477.3(PDHX):c.641+4T>C rs2767035 0.02645
NM_006031.6(PCNT):c.8988C>T (p.Ala2996=) rs61735826 0.02642
NM_004618.5(TOP3A):c.315-4C>G rs7217776 0.02640
NM_018451.5(CPAP):c.163C>G (p.Pro55Ala) rs17081389 0.02639
NM_005982.4(SIX1):c.*602G>C rs78909843 0.02638
NM_001082538.3(TCTN1):c.473-10T>A rs12307716 0.02637
NM_052985.3(IFT122):c.-206A>G rs3138334 0.02635
NM_005199.5(CHRNG):c.445G>A (p.Ala149Thr) rs2289080 0.02629
NM_006939.4(SOS2):c.1448G>A (p.Ser483Asn) rs17122201 0.02622
NM_000302.4(PLOD1):c.250G>A (p.Ala84Thr) rs34878020 0.02621
NM_014244.5(ADAMTS2):c.1281C>T (p.Asp427=) rs34424371 0.02621
NM_024996.7(GFM1):c.*713C>T rs16829307 0.02621
NM_001271938.2(MEGF8):c.1933+13A>G rs139484187 0.02617
NM_004370.6(COL12A1):c.4001-10G>A rs73749974 0.02617
NM_001374353.1(GLI2):c.2997C>T (p.Asp999=) rs140479803 0.02616
NM_000075.4(CDK4):c.*491C>T rs112275916 0.02614
NC_000007.14:g.156789579T>C rs77727105 0.02610
NM_000503.6(EYA1):c.1597+18T>C rs76259565 0.02609
NM_006567.5(FARS2):c.339C>T (p.Tyr113=) rs41302853 0.02609
NM_001844.5(COL2A1):c.2625+9C>T rs41272027 0.02608
NM_014141.6(CNTNAP2):c.3476-15C>A rs77706740 0.02606
NM_000685.5(AGTR1):c.*70T>G rs5185 0.02605
NM_004415.4(DSP):c.1903+7T>C rs28763962 0.02605
NM_001379081.2(FREM1):c.3048G>A (p.Thr1016=) rs61732546 0.02603
NM_001127649.3(PEX26):c.*1608G>A rs116824049 0.02602
NM_022455.5(NSD1):c.3106G>C (p.Ala1036Pro) rs28932179 0.02602
NM_000089.4(COL1A2):c.1878G>T (p.Val626=) rs1800238 0.02599
NM_001378964.1(CDON):c.3526G>A (p.Val1176Ile) rs78304400 0.02598
NM_001039958.2(MESP2):c.671C>T (p.Ser224Phe) rs71647807 0.02596
NM_005982.4(SIX1):c.*404A>G rs76116881 0.02596
NM_007254.4(PNKP):c.1189-10del rs3739205 0.02593
NM_003052.5(SLC34A1):c.1635C>T (p.Gly545=) rs7379524 0.02591
NM_005732.4(RAD50):c.214-44G>A rs74769721 0.02590
NM_012431.3(SEMA3E):c.2149A>G (p.Ile717Val) rs61729610 0.02589
NM_020184.4(CNNM4):c.1824G>A (p.Pro608=) rs36121810 0.02587
NM_133459.4(CCBE1):c.*2825A>G rs116611266 0.02587
NM_004614.5(TK2):c.*2419C>T rs74372298 0.02586
NM_000368.5(TSC1):c.*682C>T rs75252898 0.02584
NM_014780.5(CUL7):c.4794G>A (p.Lys1598=) rs61437700 0.02584
NM_001378964.1(CDON):c.-57C>T rs11829014 0.02582
NM_006859.4(LIAS):c.737+13A>T rs79572060 0.02580
NM_080680.3(COL11A2):c.-174C>A rs138299820 0.02580
NM_001378964.1(CDON):c.-51A>C rs11822173 0.02579
NM_004239.4(TRIP11):c.*345T>C rs17127786 0.02579
NM_006859.4(LIAS):c.306C>A (p.Leu102=) rs61731032 0.02579
NM_001080414.4(CCDC88C):c.4975C>A (p.Arg1659=) rs150512553 0.02576
NM_020297.4(ABCC9):c.2424+9T>C rs11835804 0.02576
NM_001852.4(COL9A2):c.1288-12C>T rs77695700 0.02575
NM_014244.5(ADAMTS2):c.2480G>A (p.Arg827Gln) rs35445112 0.02575
NM_181458.4(PAX3):c.944C>A (p.Thr315Lys) rs2234675 0.02573
NM_000368.5(TSC1):c.*2558A>G rs115516164 0.02571
NM_000428.3(LTBP2):c.2715C>T (p.Arg905=) rs7145480 0.02571
NM_001378964.1(CDON):c.197A>G (p.Lys66Arg) rs7122277 0.02566
NM_004304.5(ALK):c.1427T>C (p.Val476Ala) rs35093491 0.02566
NM_000428.3(LTBP2):c.3093C>T (p.Ser1031=) rs45473602 0.02563
NM_000789.4(ACE):c.3906G>A (p.Glu1302=) rs4365 0.02561
NM_022114.4(PRDM16):c.1113C>T (p.Cys371=) rs61745281 0.02560
NM_024596.5(MCPH1):c.2400C>T (p.Tyr800=) rs7017210 0.02559
NM_002857.4(PEX19):c.*2417C>T rs193290301 0.02557
NM_021625.5(TRPV4):c.81T>C (p.Gly27=) rs34599967 0.02557
NM_000093.5(COL5A1):c.4393-9C>T rs11792181 0.02555
NM_003738.5(PTCH2):c.2963C>T (p.Thr988Met) rs11573590 0.02555
NM_000528.4(MAN2B1):c.2310C>T (p.Pro770=) rs35880640 0.02554
NM_000466.3(PEX1):c.2088A>G (p.Ile696Met) rs35996821 0.02553
NM_000208.4(INSR):c.*1974_*1975del rs148930499 0.02551
NM_002857.4(PEX19):c.433-11G>T rs41265791 0.02551
NM_030957.4(ADAMTS10):c.1588-7C>G rs11882422 0.02550
NM_001358530.2(MOCS1):c.330C>T (p.Leu110=) rs61746375 0.02544
NM_005006.7(NDUFS1):c.*158T>C rs3770989 0.02543
NM_000368.5(TSC1):c.*376C>T rs114064768 0.02541
NM_139057.4(ADAMTS17):c.3219C>T (p.Tyr1073=) rs78682885 0.02540
NM_000183.3(HADHB):c.*351C>G rs7575987 0.02538
NM_003242.6(TGFBR2):c.999A>G (p.Leu333=) rs2229102 0.02537
NM_000318.3(PEX2):c.733G>A (p.Ala245Thr) rs112108739 0.02536
NM_000466.3(PEX1):c.3439-14_3439-13del rs150005994 0.02536
NM_003118.4(SPARC):c.55C>T (p.Pro19Ser) rs6874468 0.02536
NM_145068.4(TRPV3):c.1435A>T (p.Met479Leu) rs114131791 0.02536
NM_001042492.3(NF1):c.2544G>A (p.Gly848=) rs17883704 0.02535
NM_001999.4(FBN2):c.-435C>T rs78230270 0.02535
NM_000093.5(COL5A1):c.2724G>A (p.Pro908=) rs41310207 0.02534
NM_001367624.2(ZNF469):c.4434C>T (p.Ser1478=) rs74032865 0.02534
NM_000262.3(NAGA):c.*12A>C rs2229547 0.02530
NM_001379081.2(FREM1):c.840G>A (p.Ala280=) rs41313784 0.02530
NM_021926.4(ALX4):c.*1447G>A rs11037920 0.02530
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=) rs45516100 0.02529
NM_001379286.1(ZNF423):c.3850-9C>T rs78514142 0.02527
NM_012463.4(ATP6V0A2):c.2438C>T (p.Ala813Val) rs17883456 0.02527
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile) rs17227354 0.02526
NM_001151.4(SLC25A4):c.*3114C>A rs147626367 0.02525
NM_006031.6(PCNT):c.9271A>G (p.Ser3091Gly) rs4818842 0.02525
NM_013275.6(ANKRD11):c.4344T>C (p.Tyr1448=) rs61744778 0.02524
NC_000007.14:g.146116001A>G rs34712024 0.02519
NM_000302.4(PLOD1):c.1329-20G>A rs78527487 0.02519
NM_001365276.2(TNXB):c.7377C>T (p.Gly2459=) rs59619270 0.02517
NM_207361.6(FREM2):c.1941C>T (p.Asp647=) rs41292751 0.02517
NM_207361.6(FREM2):c.4077T>A (p.Gly1359=) rs41292757 0.02517
NM_020184.4(CNNM4):c.*1482C>T rs10172803 0.02516
NM_022095.4(ZNF335):c.3487+14G>C rs73622634 0.02516
NM_001365276.2(TNXB):c.4332C>T (p.His1444=) rs61998168 0.02515
NM_003482.4(KMT2D):c.15978T>G (p.Leu5326=) rs55776396 0.02513
NM_018122.5(DARS2):c.1013G>A (p.Gly338Glu) rs141298312 0.02511
NM_001083614.2(EARS2):c.984G>A (p.Pro328=) rs77939239 0.02510
NM_207361.6(FREM2):c.*5600G>T rs74793552 0.02508
NM_000719.7(CACNA1C):c.2853+440G>A rs113064994 0.02504
NM_005555.4(KRT6B):c.1495G>A (p.Gly499Ser) rs61746355 0.02504
NM_001378964.1(CDON):c.*4080G>A rs79685272 0.02502
NM_004813.4(PEX16):c.303C>T (p.Ala101=) rs80275010 0.02501
NM_001999.4(FBN2):c.8733C>G (p.Leu2911=) rs34383505 0.02500
NM_152419.3(HGSNAT):c.*585T>C rs73675470 0.02497
NM_000219.6(KCNE1):c.-253A>G rs41315471 0.02496
NM_004525.3(LRP2):c.2006G>A (p.Gly669Asp) rs34291900 0.02496
NM_152419.3(HGSNAT):c.1840G>A (p.Val614Ile) rs73675469 0.02491
NM_000214.3(JAG1):c.270G>T (p.Gly90=) rs114048678 0.02490
NM_002272.4(KRT4):c.261T>A (p.Gly87=) rs74445207 0.02489
NM_004370.6(COL12A1):c.2772T>C (p.Tyr924=) rs35429515 0.02487
NM_014141.6(CNTNAP2):c.*1017T>G rs77001133 0.02487
NM_182895.5(SCARF2):c.1967C>T (p.Pro656Leu) rs9680797 0.02487
NM_001083614.2(EARS2):c.*400A>G rs78770424 0.02484
NM_001136271.3(NKX2-6):c.386C>A (p.Ala129Glu) rs143039156 0.02484
NM_001378964.1(CDON):c.*3830G>A rs116746244 0.02483
NM_002335.4(LRP5):c.4000+10T>A rs116068042 0.02476
NM_003193.5(TBCE):c.614T>C (p.Val205Ala) rs16832611 0.02475
NM_019892.6(INPP5E):c.33C>G (p.Ser11=) rs79161998 0.02475
NM_170665.4(ATP2A2):c.1420-8C>G rs112499287 0.02475
NM_004393.6(DAG1):c.41= (p.Ser14=) rs1553648360 0.02474
NM_005159.5(ACTC1):c.927T>C (p.Pro309=) rs2307493 0.02473
NM_004380.3(CREBBP):c.6711C>T (p.Pro2237=) rs3751845 0.02471
NM_013275.6(ANKRD11):c.6176C>A (p.Pro2059His) rs117997391 0.02470
NM_021926.4(ALX4):c.594C>A (p.Leu198=) rs61737295 0.02470
NM_000093.5(COL5A1):c.2232+36C>T rs45622539 0.02468
NM_001001433.3(STX16):c.*2060T>C rs115404291 0.02468
NM_001018113.3(FANCB):c.*14T>C rs2375726 0.02466
NM_000199.5(SGSH):c.1116G>A (p.Met372Ile) rs58786455 0.02463
NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315 0.02463
NM_005045.4(RELN):c.5831T>G (p.Phe1944Cys) rs77664442 0.02460
NM_133259.4(LRPPRC):c.41C>G (p.Ala14Gly) rs114205971 0.02459
NM_004239.4(TRIP11):c.4812T>C (p.Asp1604=) rs17127837 0.02457
NM_000719.7(CACNA1C):c.1481+189C>T rs74053812 0.02456
NM_170784.3(MKKS):c.*38A>G rs79940214 0.02456
NM_015338.6(ASXL1):c.2985C>T (p.His995=) rs62206933 0.02455
NM_170784.3(MKKS):c.*46G>T rs74703166 0.02454
NM_004415.4(DSP):c.273+10C>T rs56148603 0.02451
NM_001194998.2(CEP152):c.191+11G>A rs75503597 0.02449
NM_002470.4(MYH3):c.5457+3G>A rs200954595 0.02449
NM_003482.4(KMT2D):c.12028T>C (p.Ser4010Pro) rs80132640 0.02449
NM_000199.5(SGSH):c.249+52G>A rs113672699 0.02447
NM_001042545.2(LTBP4):c.1834C>G (p.Pro612Ala) rs34299942 0.02447
NM_021926.4(ALX4):c.*2226G>A rs78607024 0.02447
NM_003193.5(TBCE):c.1226A>G (p.Glu409Gly) rs16832619 0.02446
NM_001080432.3(FTO):c.*2301G>A rs79234192 0.02445
NM_014317.5(PDSS1):c.89G>T (p.Gly30Val) rs17855857 0.02444
NM_025074.7(FRAS1):c.*751T>G rs6832584 0.02441
NM_022039.4(FBXW4):c.440C>A (p.Ala147Asp) rs117664315 0.02439
NM_001367624.2(ZNF469):c.1827G>A (p.Ser609=) rs148616993 0.02438
NM_003477.3(PDHX):c.70C>G (p.Arg24Gly) rs11539201 0.02438
NM_001127649.3(PEX26):c.*1003T>G rs79085553 0.02437
NM_001844.5(COL2A1):c.3000G>A (p.Pro1000=) rs1793947 0.02436
NM_004370.6(COL12A1):c.626A>C (p.Lys209Thr) rs75535959 0.02433
NM_000143.4(FH):c.927G>A (p.Pro309=) rs61737760 0.02428
NM_003482.4(KMT2D):c.5467+19A>C rs78764337 0.02428
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=) rs28763943 0.02427
NM_002618.4(PEX13):c.1078C>G (p.Leu360Val) rs74350038 0.02423
NM_003482.4(KMT2D):c.248G>A (p.Arg83Gln) rs55865069 0.02422
NM_006953.4(UPK3A):c.465C>T (p.Pro155=) rs62001037 0.02422
NM_018699.4(PRDM5):c.660G>A (p.Gln220=) rs74320998 0.02419
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=) rs363830 0.02418
NM_001429.4(EP300):c.6668A>C (p.Gln2223Pro) rs1046088 0.02418
NM_001854.4(COL11A1):c.1872A>G (p.Pro624=) rs111841420 0.02418
NM_000434.4(NEU1):c.263G>C (p.Gly88Ala) rs34712643 0.02415
NM_000104.4(CYP1B1):c.564C>A (p.Gly188=) rs9341247 0.02411
NM_130837.3(OPA1):c.629C>T (p.Ala210Val) rs34307082 0.02411
NM_000082.4(ERCC8):c.173+1158A>G rs4647068 0.02409
NM_004531.5(MOCS2):c.*566C>T rs41308287 0.02408
NM_000719.7(CACNA1C):c.1114-587G>A rs17223925 0.02407
NM_000181.4(GUSB):c.*172A>G rs77293332 0.02406
NM_130837.3(OPA1):c.*2286T>C rs115575058 0.02406
NM_001303.4(COX10):c.-63C>T rs77877576 0.02405
NM_001370259.2(MEN1):c.1299= (p.His433=) rs540012 0.02405
NM_022095.4(ZNF335):c.3187C>A (p.Arg1063=) rs11905235 0.02405
NM_001368809.2(AMPD2):c.1984-19C>T rs75276578 0.02404
NM_015713.4(RRM2B):c.-103G>A rs7844478 0.02404
NM_133433.4(NIPBL):c.4561-16C>T rs115403650 0.02404
NM_000082.4(ERCC8):c.-23T>G rs4647038 0.02401
NM_001109878.2(TBX22):c.-103G>A rs73496511 0.02400
NM_001134831.2(AHI1):c.2223T>C (p.Asp741=) rs2273761 0.02399
NM_001429.4(EP300):c.2131+18T>A rs9611506 0.02398
NM_000136.3(FANCC):c.408A>G (p.Gln136=) rs1800360 0.02397
NM_021252.5(RAB18):c.*3129C>T rs78270485 0.02396
NM_000218.3(KCNQ1):c.*482G>A rs45510192 0.02395
NM_000540.3(RYR1):c.1577-6C>G rs61586345 0.02394
NM_014762.4(DHCR24):c.*1965C>A rs11555500 0.02394
NM_000318.3(PEX2):c.*458G>A rs143201132 0.02392
NM_006371.5(CRTAP):c.*3005G>A rs114186675 0.02392
NM_003923.3(FOXH1):c.373A>T (p.Thr125Ser) rs112028242 0.02391
NM_000218.3(KCNQ1):c.*742G>A rs114844136 0.02390
NM_025114.4(CEP290):c.4119A>G (p.Lys1373=) rs117122459 0.02390
NM_021922.3(FANCE):c.1071C>T (p.Leu357=) rs3823434 0.02388
NM_001271938.2(MEGF8):c.6576G>A (p.Thr2192=) rs10425783 0.02385
NM_003850.3(SUCLA2):c.110T>G (p.Leu37Trp) rs62636645 0.02383
NM_004656.4(BAP1):c.1786A>G (p.Ser596Gly) rs79014342 0.02383
NM_014846.4(WASHC5):c.597A>G (p.Pro199=) rs7812319 0.02380
NM_001852.4(COL9A2):c.364-8C>T rs11207843 0.02379
NM_133459.4(CCBE1):c.988-10A>G rs115490148 0.02376
NM_004565.3(PEX14):c.475G>A (p.Val159Met) rs74052157 0.02375
NM_000093.5(COL5A1):c.1935+8T>G rs79195626 0.02373
NM_005908.4(MANBA):c.1482G>T (p.Leu494=) rs74718667 0.02371
NM_025074.7(FRAS1):c.6010+8A>G rs7670555 0.02371
NM_020436.5(SALL4):c.2182G>C (p.Ala728Pro) rs61737142 0.02370
NM_000090.4(COL3A1):c.*43A>G rs8224 0.02368
NM_001113378.2(FANCI):c.3816+15A>T rs28493988 0.02368
NM_000214.3(JAG1):c.924C>T (p.Asn308=) rs45575136 0.02367
NM_004544.4(NDUFA10):c.*3349G>A rs77216981 0.02367
NM_173660.5(DOK7):c.589G>A (p.Asp197Asn) rs16844422 0.02362
NM_001278716.2(FBXL4):c.105T>A (p.His35Gln) rs34316889 0.02361
NM_000093.5(COL5A1):c.*1642G>A rs116053626 0.02360
NM_001127649.3(PEX26):c.*2701G>C rs114075265 0.02360
NM_001148.6(ANK2):c.3796+18G>A rs66792339 0.02360
NM_001200.4(BMP2):c.109T>G (p.Ser37Ala) rs2273073 0.02358
NM_000368.5(TSC1):c.*107T>C rs116917669 0.02353
NM_005633.4(SOS1):c.3081+32A>G rs6723430 0.02350
NM_001044385.3(TMEM237):c.9T>G (p.Thr3=) rs6736435 0.02349
NM_005045.4(RELN):c.6672-15G>A rs73418565 0.02349
NM_000891.3(KCNJ2):c.*1596A>C rs117409545 0.02347
NM_001077446.4(TSEN34):c.*29G>A rs2289145 0.02347
NM_006796.3(AFG3L2):c.1026+8G>A rs8091858 0.02347
NM_001077446.4(TSEN34):c.688C>A (p.Arg230=) rs11879943 0.02345
NM_000047.3(ARSL):c.23+687G>A rs61733257 0.02344
NM_001159773.2(CANT1):c.*829G>A rs115856545 0.02343
NM_024426.6(WT1):c.*1132A>T rs5030328 0.02340
NM_021625.5(TRPV4):c.854-5C>T rs116401333 0.02337
NM_194318.4(B3GLCT):c.1105G>A (p.Gly369Ser) rs34638481 0.02336
NM_001122681.2(SH3BP2):c.*6076T>C rs75261481 0.02335
NM_001203.3(BMPR1B):c.*3328A>G rs7676885 0.02335
NM_005045.4(RELN):c.*67G>A rs112874175 0.02333
NM_000093.5(COL5A1):c.*1922G>A rs74979726 0.02332
NM_020320.5(RARS2):c.991A>G (p.Ile331Val) rs3757370 0.02330
NM_001378964.1(CDON):c.1851+14G>A rs113328989 0.02329
NM_000302.4(PLOD1):c.*71C>G rs2230899 0.02327
NM_005921.2(MAP3K1):c.764A>G (p.Asn255Ser) rs56069227 0.02325
NM_000138.5(FBN1):c.7819+8A>C rs363838 0.02324
NM_012463.4(ATP6V0A2):c.1121A>G (p.Lys374Arg) rs79134187 0.02323
NM_000719.7(CACNA1C):c.1390+188A>G rs74053493 0.02322
NM_012463.4(ATP6V0A2):c.*1600G>A rs58028686 0.02320
NM_001367624.2(ZNF469):c.11409G>C (p.Gly3803=) rs150233193 0.02319
NM_001378964.1(CDON):c.1603G>A (p.Ala535Thr) rs76247998 0.02319
NM_001384732.1(CPLANE1):c.6051T>C (p.Ala2017=) rs61746147 0.02316
NM_003482.4(KMT2D):c.4020+27A>G rs77395760 0.02314
NM_001002755.4(NFU1):c.286C>T (p.Arg96Cys) rs74637005 0.02312
NM_004153.4(ORC1):c.568G>A (p.Val190Met) rs3087477 0.02312
NM_005592.4(MUSK):c.225C>T (p.Tyr75=) rs56130155 0.02312
NM_001384732.1(CPLANE1):c.9346G>A (p.Gly3116Arg) rs7702892 0.02310
NM_000719.7(CACNA1C):c.916+207G>A rs61909400 0.02309
NM_001379200.1(TBX1):c.324G>A (p.Ala108=) rs72646953 0.02309
NM_025265.4(TSEN2):c.639T>C (p.Asp213=) rs3796329 0.02309
NM_001384732.1(CPLANE1):c.7775C>T (p.Pro2592Leu) rs16903518 0.02308
NM_052989.3(IFT122):c.109-15T>C rs114298924 0.02307
NM_001374353.1(GLI2):c.1893C>T (p.Thr631=) rs13008360 0.02306
NM_006371.5(CRTAP):c.*3243A>C rs114378448 0.02306
NM_001203.3(BMPR1B):c.*49C>T rs6813320 0.02305
NM_145861.4(EDARADD):c.60G>A (p.Glu20=) rs60808129 0.02304
NM_000501.4(ELN):c.2086+5G>C rs111866046 0.02303
NM_024426.6(WT1):c.*835A>G rs5030322 0.02303
NM_001001433.3(STX16):c.*70G>A rs114597931 0.02300
NM_025265.4(TSEN2):c.327G>A (p.Glu109=) rs77899976 0.02296
NM_198173.3(GRHL3):c.1361C>T (p.Thr454Met) rs41268753 0.02296
NM_005921.2(MAP3K1):c.165G>A (p.Ala55=) rs189140884 0.02295
NM_003477.3(PDHX):c.507C>T (p.Ile169=) rs79170416 0.02292
NC_000017.11:g.50201674G>A rs113647555 0.02290
NM_032444.4(SLX4):c.3783G>A (p.Pro1261=) rs77699867 0.02290
NM_000414.4(HSD17B4):c.1791C>T (p.Val597=) rs2560722 0.02288
NM_001018115.3(FANCD2):c.2702G>T (p.Gly901Val) rs35495399 0.02285
NM_032444.4(SLX4):c.4581G>A (p.Pro1527=) rs78635099 0.02283
NM_024426.6(WT1):c.662-1928_662-1927del rs71873106 0.02282
NM_003611.3(OFD1):c.2387+11C>T rs140369491 0.02280
NM_005921.2(MAP3K1):c.1644A>G (p.Gln548=) rs56225368 0.02279
NM_005921.2(MAP3K1):c.45G>A (p.Pro15=) rs192120973 0.02279
NM_000182.5(HADHA):c.1392+10G>A rs60085478 0.02277
NM_001451.3(FOXF1):c.645C>T (p.His215=) rs61740819 0.02277
NM_005219.5(DIAPH1):c.3579C>T (p.Gly1193=) rs2302102 0.02275
NM_001358530.2(MOCS1):c.*734C>G rs1063171 0.02273
NM_002618.4(PEX13):c.*775G>A rs143032208 0.02272
NM_001042492.3(NF1):c.*2089G>A rs17881973 0.02271
NM_002834.5(PTPN11):c.255C>T (p.His85=) rs61736914 0.02271
NM_001042492.3(NF1):c.4882T>C (p.Leu1628=) rs10512435 0.02270
NM_001194998.2(CEP152):c.161C>T (p.Ser54Leu) rs2289181 0.02268
NM_001371623.1(TCOF1):c.2765C>T (p.Ser922Leu) rs114689020 0.02268
NM_001367624.2(ZNF469):c.10975G>A (p.Gly3659Arg) rs3812951 0.02265
NM_014317.5(PDSS1):c.*157T>G rs1046187 0.02265
NM_001844.5(COL2A1):c.*4C>T rs41272773 0.02262
NM_024312.5(GNPTAB):c.1931C>T (p.Thr644Ile) rs76889468 0.02262
NM_025074.7(FRAS1):c.6252C>T (p.Asn2084=) rs114956797 0.02261
NM_005032.7(PLS3):c.367+11T>C rs112140311 0.02260
NM_000135.4(FANCA):c.*287G>A rs17227417 0.02259
NM_000222.3(KIT):c.1638A>G (p.Lys546=) rs55986963 0.02258
NM_001077418.3(TMEM231):c.582+8C>G rs144252983 0.02257
NM_001122681.2(SH3BP2):c.-4-1638C>T rs78035476 0.02257
NM_001358530.2(MOCS1):c.645+9G>C rs73732319 0.02256
NM_000136.3(FANCC):c.1345G>A (p.Val449Met) rs1800367 0.02254
NM_001173990.3(TMEM216):c.*444T>C rs116047887 0.02253
NM_002857.4(PEX19):c.*2637G>A rs41265787 0.02253
NM_000414.4(HSD17B4):c.875C>G (p.Thr292Ser) rs1143650 0.02248
NM_024312.5(GNPTAB):c.3693+10A>T rs76021817 0.02246
NM_017866.6(TMEM70):c.*904A>G rs59024088 0.02244
NM_000264.5(PTCH1):c.735A>G (p.Thr245=) rs1805154 0.02243
NM_001025389.2(AMPD3):c.1363T>C (p.Tyr455His) rs36003153 0.02243
NM_007059.4(KPTN):c.504G>A (p.Pro168=) rs61743291 0.02243
NM_025136.4(OPA3):c.-38A>G rs45527139 0.02241
NM_000141.5(FGFR2):c.1941C>T (p.Leu647=) rs35337478 0.02240
NM_001384732.1(CPLANE1):c.3743G>A (p.Gly1248Asp) rs72736758 0.02238
NM_005257.6(GATA6):c.43G>C (p.Gly15Arg) rs116262672 0.02238
NM_001854.4(COL11A1):c.1944+11T>C rs71664954 0.02235
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile) rs1131660 0.02234
NM_001083961.2(WDR62):c.3674G>A (p.Arg1225His) rs61743589 0.02230
NM_004260.4(RECQL4):c.1258+6A>T rs34437789 0.02229
NM_005045.4(RELN):c.1888A>C (p.Ser630Arg) rs115734214 0.02229
NM_004836.7(EIF2AK3):c.-172C>T rs71414432 0.02228
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn) rs138579182 0.02227
NM_004239.4(TRIP11):c.*1374A>C rs74801826 0.02226
NM_020436.5(SALL4):c.645C>G (p.Leu215=) rs61737139 0.02226
NM_001005498.4(RHBDF2):c.658G>A (p.Ala220Thr) rs34814954 0.02225
NM_003722.5(TP63):c.*1844dup rs146332971 0.02225
NM_001351132.2(PEX5):c.815T>C (p.Met272Thr) rs76708142 0.02223
NM_020812.4(DOCK6):c.4895C>T (p.Ala1632Val) rs117328686 0.02223
NM_003052.5(SLC34A1):c.1702C>T (p.His568Tyr) rs34225933 0.02221
NM_024009.3(GJB3):c.567C>T (p.Tyr189=) rs61732307 0.02220
NM_002470.4(MYH3):c.6T>C (p.Ser2=) rs17817203 0.02219
NM_004004.6(GJB2):c.79G>A (p.Val27Ile) rs2274084 0.02218
NM_000124.4(ERCC6):c.4322C>T (p.Thr1441Ile) rs4253230 0.02217
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=) rs11551373 0.02216
NM_001122681.2(SH3BP2):c.*7165T>G rs111574096 0.02212
NM_001378964.1(CDON):c.*2734G>A rs12294405 0.02212
NM_001852.4(COL9A2):c.737C>T (p.Thr246Met) rs2228565 0.02212
NM_133459.4(CCBE1):c.*2673G>A rs115205666 0.02212
NM_018082.6(POLR3B):c.-95C>T rs17219334 0.02211
NM_000335.5(SCN5A):c.3305C>A (p.Ser1102Tyr) rs7626962 0.02208
NM_014244.5(ADAMTS2):c.701A>G (p.Asp234Gly) rs59567206 0.02208
NM_004239.4(TRIP11):c.*1554T>A rs11848545 0.02207
NM_000393.5(COL5A2):c.*2131T>A rs113513554 0.02206
NM_001361.5(DHODH):c.1022C>T (p.Ala341Val) rs61733129 0.02206
NM_001382391.1(CSPP1):c.3313T>C (p.Trp1105Arg) rs1808140 0.02204
NM_198525.3(KIF7):c.1444-4A>G rs112333674 0.02204
NM_002860.4(ALDH18A1):c.1029T>C (p.Ile343=) rs41291566 0.02201
NM_025074.7(FRAS1):c.*78G>T rs77632937 0.02198
NM_003640.5(ELP1):c.934G>A (p.Glu312Lys) rs1140064 0.02197
NM_025136.4(OPA3):c.*6394G>A rs151030695 0.02197
NM_003098.3(SNTA1):c.807T>C (p.Asn269=) rs73270015 0.02196
NM_002470.4(MYH3):c.3008C>T (p.Ala1003Val) rs34088014 0.02195
NM_000182.5(HADHA):c.1072C>A (p.Gln358Lys) rs2229420 0.02193
NM_020937.4(FANCM):c.3758A>G (p.Asn1253Ser) rs45604036 0.02192
NM_002857.4(PEX19):c.*898A>G rs8989 0.02188
NM_015272.5(RPGRIP1L):c.1341G>A (p.Leu447=) rs61743997 0.02188
NM_001371623.1(TCOF1):c.2094A>G (p.Glu698=) rs34796297 0.02187
NM_022168.4(IFIH1):c.2305-19T>C rs74162085 0.02187
NM_000719.7(CACNA1C):c.2663+79C>T rs77802779 0.02186
NM_014140.4(SMARCAL1):c.2141+17T>C rs2066516 0.02186
NM_005327.4(HADH):c.-71C>T rs760202 0.02185
NM_022168.4(IFIH1):c.2455-7T>A rs41399348 0.02185
NM_022168.4(IFIH1):c.2454+6T>C rs6748554 0.02184
NM_012463.4(ATP6V0A2):c.*2877T>A rs77765053 0.02183
NM_144966.5(FREM1):c.*2296G>A rs117358199 0.02183
NM_000284.4(PDHA1):c.*392G>A rs56318063 0.02182
NM_022455.5(NSD1):c.7636G>A (p.Ala2546Thr) rs78247455 0.02182
NM_000428.3(LTBP2):c.4782G>A (p.Val1594=) rs2079631 0.02179
NM_012463.4(ATP6V0A2):c.*2357C>T rs117222175 0.02177
NM_024009.3(GJB3):c.94C>T (p.Arg32Trp) rs1805063 0.02177
NM_024757.5(EHMT1):c.128C>G (p.Ala43Gly) rs79514677 0.02177
NM_004959.5(NR5A1):c.225G>C (p.Thr75=) rs138805488 0.02176
NM_005592.4(MUSK):c.299C>T (p.Thr100Met) rs35142681 0.02176
NM_206937.2(LIG4):c.*129A>G rs3093767 0.02174
NM_002470.4(MYH3):c.4155A>G (p.Glu1385=) rs58343499 0.02173
NM_020937.4(FANCM):c.5627A>G (p.Asn1876Ser) rs45557033 0.02173
NM_182760.4(SUMF1):c.*518T>C rs17040504 0.02173
NM_207361.6(FREM2):c.8226C>T (p.Ala2742=) rs17058710 0.02172
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln) rs45532440 0.02171
NM_000256.3(MYBPC3):c.492C>T (p.Gly164=) rs3218719 0.02170
NM_001040436.3(YARS2):c.1026G>A (p.Arg342=) rs35339227 0.02168
NM_005327.4(HADH):c.-193G>A rs10017687 0.02168
NM_006031.6(PCNT):c.5879G>A (p.Arg1960Gln) rs34813667 0.02167
NM_015681.6(B9D1):c.-70G>A rs2296978 0.02165
NM_001367624.2(ZNF469):c.4406A>G (p.Tyr1469Cys) rs116072997 0.02164
NM_022336.4(EDAR):c.*895C>T rs115259025 0.02162
NM_000020.3(ACVRL1):c.626-53C>T rs111245531 0.02158
NM_004959.5(NR5A1):c.375G>A (p.Pro125=) rs1110062 0.02157
NM_001104631.2(PDE4D):c.*1773A>G rs829260 0.02156
NM_001367624.2(ZNF469):c.2913C>A (p.Gly971=) rs60462217 0.02154
NM_000512.5(GALNS):c.*296A>G rs79507351 0.02153
NM_145861.4(EDARADD):c.308C>T (p.Ser103Phe) rs114632254 0.02153
NM_001365276.2(TNXB):c.9641G>T (p.Gly3214Val) rs9267795 0.02152
NM_018451.5(CPAP):c.187G>C (p.Asp63His) rs7336216 0.02151
NM_023110.2(FGFR1):c.-881G>A rs17182051 0.02149
NM_213599.3(ANO5):c.1120-24A>T rs11026476 0.02147
NM_000719.7(CACNA1C):c.5784+149G>A rs113077320 0.02145
NM_022458.4(LMBR1):c.*2603A>G rs1014236 0.02144
NM_001104631.2(PDE4D):c.1452+8T>C rs78773396 0.02142
NM_001329943.3(KIAA0586):c.4461T>C (p.Ile1487=) rs11611 0.02142
NM_000287.4(PEX6):c.207C>T (p.Pro69=) rs11539736 0.02141
NM_015338.6(ASXL1):c.2251G>A (p.Val751Ile) rs6058693 0.02141
NM_001367624.2(ZNF469):c.3650C>T (p.Pro1217Leu) rs115183769 0.02140
NM_000557.5(GDF5):c.*193G>T rs114832948 0.02139
NM_004813.4(PEX16):c.*438C>T rs2280328 0.02139
NM_014762.4(DHCR24):c.*1677T>C rs74496507 0.02139
NM_002470.4(MYH3):c.3938C>T (p.Thr1313Ile) rs35230241 0.02138
NM_005199.5(CHRNG):c.*77T>C rs11690038 0.02138
NM_147127.5(EVC2):c.3557+10G>A rs116218656 0.02138
NM_000020.3(ACVRL1):c.*862G>A rs116256992 0.02136
NM_006662.3(SRCAP):c.306+4C>T rs58723456 0.02136
NM_198253.3(TERT):c.2031C>T (p.Gly677=) rs33956095 0.02136
NM_022167.4(XYLT2):c.1253C>T (p.Pro418Leu) rs72832454 0.02135
NM_000414.4(HSD17B4):c.420A>T (p.Lys140Asn) rs28943589 0.02134
NM_000428.3(LTBP2):c.*2153T>C rs113879332 0.02134
NM_025074.7(FRAS1):c.7633G>A (p.Asp2545Asn) rs4388111 0.02134
NM_002334.4(LRP4):c.3945G>A (p.Ser1315=) rs61733844 0.02133
NM_002615.7(SERPINF1):c.395C>G (p.Pro132Arg) rs1804145 0.02133
NM_001110219.3(GJB6):c.*301G>C rs112723181 0.02132
NM_006939.4(SOS2):c.816T>C (p.Ser272=) rs35396088 0.02130
NM_000302.4(PLOD1):c.1788G>T (p.Val596=) rs35460537 0.02126
NM_000514.4(GDNF):c.*1141C>A rs2972929 0.02126
NM_022114.4(PRDM16):c.627C>T (p.His209=) rs12058363 0.02126
NM_002880.4(RAF1):c.1755A>G (p.Val585=) rs3730296 0.02125
NM_006147.4(IRF6):c.1153T>C (p.Leu385=) rs61099902 0.02121
NM_001278689.2(EOGT):c.1213A>G (p.Arg405Gly) rs35545453 0.02119
NM_014780.5(CUL7):c.2555G>A (p.Arg852Gln) rs34574340 0.02119
NM_000348.4(SRD5A2):c.145G>A (p.Ala49Thr) rs9282858 0.02117
NM_000503.6(EYA1):c.-271G>A rs73684755 0.02116
NM_001104631.2(PDE4D):c.*5125C>T rs829257 0.02116
NM_030777.4(SLC2A10):c.1609A>G (p.Ile537Val) rs7348121 0.02113
NM_000302.4(PLOD1):c.2133C>G (p.Leu711=) rs879691 0.02109
NM_133433.4(NIPBL):c.4421+7A>G rs76297333 0.02109
NM_030777.4(SLC2A10):c.*56A>G rs112821000 0.02108
NM_020964.3(EPG5):c.3248C>T (p.Ser1083Leu) rs78339727 0.02107
NM_000557.5(GDF5):c.-135G>A rs73094730 0.02106
NM_006031.6(PCNT):c.7867C>T (p.Leu2623=) rs61735821 0.02105
NM_133433.4(NIPBL):c.4561-9T>A rs79924167 0.02103
NM_005996.4(TBX3):c.*245C>T rs77971713 0.02102
NM_003289.4(TPM2):c.773-4_773-3insA rs1554658501 0.02101
NM_024675.4(PALB2):c.629C>T (p.Pro210Leu) rs57605939 0.02101
NM_001358530.2(MOCS1):c.1316G>A (p.Arg439Gln) rs41273142 0.02099
NM_000263.4(NAGLU):c.421T>A (p.Ser141Thr) rs61737294 0.02098
NM_004260.4(RECQL4):c.1565G>A (p.Arg522His) rs35842750 0.02097
NM_020779.4(WDR35):c.*2836C>T rs74469198 0.02096
NM_000353.3(TAT):c.*110C>T rs113110476 0.02095
NM_004260.4(RECQL4):c.3393+9A>G rs4251692 0.02095
NM_018127.7(ELAC2):c.2130C>T (p.Ser710=) rs7217826 0.02093
NM_003098.3(SNTA1):c.*343G>A rs41305789 0.02092
NM_001379210.1(SLC25A26):c.*3C>A rs116677829 0.02088
NM_152564.5(VPS13B):c.3837C>T (p.Cys1279=) rs34941871 0.02088
NM_153490.3(KRT13):c.204C>A (p.Gly68=) rs113547405 0.02087
NM_000287.4(PEX6):c.2644G>A (p.Val882Ile) rs2274516 0.02086
NM_001005498.4(RHBDF2):c.1684A>G (p.Met562Val) rs73998915 0.02086
NM_014141.6(CNTNAP2):c.*5022C>T rs17171006 0.02086
NM_133259.4(LRPPRC):c.1888C>T (p.Leu630=) rs35881858 0.02080
NM_001378964.1(CDON):c.2623A>G (p.Ser875Gly) rs115533243 0.02079
NM_001854.4(COL11A1):c.-78T>A rs12025921 0.02079
NM_015294.6(TRIM37):c.-224A>G rs11541295 0.02079
NM_022370.4(ROBO3):c.4150-8C>T rs147605571 0.02079
NM_198525.3(KIF7):c.216G>A (p.Gln72=) rs113881220 0.02077
NM_018718.3(CEP41):c.*927T>C rs73152870 0.02074
NM_021252.5(RAB18):c.*757G>T rs76051289 0.02074
NM_017866.6(TMEM70):c.346C>G (p.Leu116Val) rs61732273 0.02073
NM_001354604.2(MITF):c.*824T>A rs114659118 0.02066
NM_004525.3(LRP2):c.*253T>C rs61116673 0.02066
NM_002472.3(MYH8):c.1701G>A (p.Gln567=) rs73275411 0.02065
NM_007129.5(ZIC2):c.1326C>T (p.Ser442=) rs182192729 0.02065
NM_032861.4(SERAC1):c.139T>A (p.Phe47Ile) rs112780453 0.02065
NM_000079.4(CHRNA1):c.1073A>T (p.Asp358Val) rs6739001 0.02064
NM_000183.3(HADHB):c.966G>A (p.Ala322=) rs7572240 0.02064
NM_005215.4(DCC):c.91+7G>A rs112558388 0.02064
NM_000719.7(CACNA1C):c.1113+186C>T rs115098369 0.02063
NM_007129.5(ZIC2):c.1239+18G>A rs139312964 0.02063
NM_013275.6(ANKRD11):c.3162A>G (p.Lys1054=) rs61729371 0.02062
NM_016938.5(EFEMP2):c.-113C>T rs188624478 0.02060
NM_000719.7(CACNA1C):c.1669+54G>A rs2283325 0.02059
NM_006918.5(SC5D):c.*5742T>C rs73592766 0.02058
NM_017866.6(TMEM70):c.*611T>G rs77116422 0.02056
NM_001365951.3(KIF1B):c.-136C>T rs181820595 0.02054
NM_001429.4(EP300):c.5061+9C>T rs73176628 0.02054
NM_002181.4(IHH):c.755A>G (p.His252Arg) rs76479554 0.02052
NM_025114.4(CEP290):c.251-10A>T rs190383141 0.02052
NM_000935.2(PLOD2):c.-412C>T rs79723478 0.02050
NM_025114.4(CEP290):c.1991A>G (p.Asp664Gly) rs79705698 0.02050
NM_006329.4(FBLN5):c.*623A>T rs77357345 0.02046
NM_020964.3(EPG5):c.3385-20C>T rs6507647 0.02046
NM_003070.5(SMARCA2):c.*431G>A rs17387924 0.02045
NM_018136.5(ASPM):c.*60C>T rs1537318 0.02044
NM_000093.5(COL5A1):c.2034+24C>T rs41298367 0.02041
NM_001127671.2(LIFR):c.*1554C>G rs1428604 0.02039
NM_005188.4(CBL):c.869+4A>G rs77284821 0.02038
NM_005045.4(RELN):c.26A>C (p.Gln9Pro) rs115165703 0.02037
NM_014244.5(ADAMTS2):c.*2918G>A rs60250623 0.02037
NM_022336.4(EDAR):c.*999C>T rs10206737 0.02037
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp) rs13312995 0.02035
NM_000528.4(MAN2B1):c.2267+3G>C rs28639634 0.02031
NM_005529.7(HSPG2):c.1776C>T (p.His592=) rs62642536 0.02028
NM_001001433.3(STX16):c.*1997A>G rs78816069 0.02027
NM_004380.3(CREBBP):c.3900C>A (p.Ile1300=) rs129974 0.02027
NM_000168.6(GLI3):c.*249A>T rs6972450 0.02026
NM_000071.3(CBS):c.316+130G>A rs73372393 0.02025
NM_004370.6(COL12A1):c.5225G>A (p.Arg1742His) rs79830915 0.02025
NM_006031.6(PCNT):c.9014C>T (p.Thr3005Met) rs60078675 0.02025
NM_000493.4(COL10A1):c.*246T>C rs149788553 0.02024
NM_002485.5(NBN):c.2082T>G (p.Pro694=) rs7823648 0.02020
NM_001365276.2(TNXB):c.9050A>G (p.Lys3017Arg) rs17207895 0.02019
NM_001367624.2(ZNF469):c.6777G>A (p.Glu2259=) rs76442115 0.02017
NM_001367624.2(ZNF469):c.6779A>G (p.Lys2260Arg) rs75136873 0.02017
NM_012463.4(ATP6V0A2):c.*3235A>G rs7310965 0.02017
NM_207361.6(FREM2):c.8885C>T (p.Ala2962Val) rs7996253 0.02012
NM_000020.3(ACVRL1):c.1378-30T>C rs142910573 0.02009
NM_001018115.3(FANCD2):c.516A>G (p.Ile172Met) rs35173688 0.02009
NM_001844.5(COL2A1):c.*295C>T rs41272781 0.02009
NM_020754.4(ARHGAP31):c.1533A>G (p.Thr511=) rs77678258 0.02008
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr) rs3731249 0.02007
NM_000208.4(INSR):c.*224C>T rs2860171 0.02007
NM_014704.4(CEP104):c.735+17A>G rs2298224 0.02006
NM_018136.5(ASPM):c.3391-14G>T rs80058948 0.02003
NM_006767.4(LZTR1):c.2160C>T (p.Phe720=) rs79640036 0.01999
NM_020754.4(ARHGAP31):c.1700C>T (p.Pro567Leu) rs61744178 0.01996
NM_017775.4(TTC19):c.*1012T>C rs57322947 0.01995
NM_001083961.2(WDR62):c.2312A>G (p.Lys771Arg) rs61747277 0.01994
NM_001367561.1(DOCK7):c.6255G>A (p.Pro2085=) rs35747851 0.01994
NM_000138.5(FBN1):c.*57A>G rs363849 0.01992
NM_006371.5(CRTAP):c.*3145A>G rs74503694 0.01992
NM_017617.5(NOTCH1):c.2587+20G>A rs148381982 0.01991
NM_000965.5(RARB):c.1155A>G (p.Ala385=) rs61733682 0.01990
NM_001365999.1(SZT2):c.6888C>T (p.Cys2296=) rs72671125 0.01988
NM_002693.3(POLG):c.1950-21C>T rs2307452 0.01987
NM_001148.6(ANK2):c.9900C>A (p.Ser3300Arg) rs34270799 0.01986
NM_020754.4(ARHGAP31):c.1491C>A (p.Arg497=) rs61747387 0.01984
NM_022458.4(LMBR1):c.*1922A>G rs75582340 0.01984
NM_020937.4(FANCM):c.229A>G (p.Thr77Ala) rs61746895 0.01981
NM_015311.3(OBSL1):c.-42T>C rs879691022 0.01980
NM_001110556.2(FLNA):c.7553-18A>G rs112682871 0.01979
NM_020533.3(MCOLN1):c.405+13G>A rs73488492 0.01978
NM_001303.4(COX10):c.83C>T (p.Thr28Ile) rs16948978 0.01976
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801 0.01974
NM_000553.6(WRN):c.1155G>A (p.Glu385=) rs2230010 0.01974
NM_003482.4(KMT2D):c.5217C>T (p.Gly1739=) rs111924728 0.01973
NM_004656.4(BAP1):c.1413T>G (p.Ala471=) rs34736117 0.01973
NM_000428.3(LTBP2):c.4263G>A (p.Ala1421=) rs61738017 0.01972
NM_153704.6(TMEM67):c.1518+18T>C rs73694953 0.01972
NM_000512.5(GALNS):c.318C>T (p.Asn106=) rs34278797 0.01971
NM_001142301.1(TMEM67):c.-200G>C rs79833026 0.01971
NM_001042492.3(NF1):c.*873A>T rs3058624 0.01966
NM_000789.4(ACE):c.*709G>A rs112901380 0.01965
NM_002181.4(IHH):c.969C>T (p.His323=) rs76578869 0.01963
NM_004525.3(LRP2):c.6045C>T (p.Ala2015=) rs34834388 0.01962
NM_000219.6(KCNE1):c.*2103C>T rs41312367 0.01957
NM_015311.3(OBSL1):c.4117G>A (p.Glu1373Lys) rs140214067 0.01955
NM_000302.4(PLOD1):c.77-3407C>T rs75220940 0.01953
NM_001083962.2(TCF4):c.*3418dup rs147548324 0.01952
NM_018699.4(PRDM5):c.1066T>A (p.Ser356Thr) rs140634372 0.01952
NM_001042492.3(NF1):c.7971-19G>T rs17887156 0.01950
NM_133259.4(LRPPRC):c.*2176A>T rs73924082 0.01948
NM_002465.4(MYBPC1):c.2809+12T>C rs11110952 0.01947
NM_018238.4(AGK):c.*141C>T rs6943245 0.01947
NM_000860.6(HPGD):c.489C>T (p.Arg163=) rs17060544 0.01946
NM_001127671.2(LIFR):c.*4804C>T rs55917124 0.01942
NM_018668.5(VPS33B):c.648C>T (p.Gly216=) rs59648701 0.01941
NM_003482.4(KMT2D):c.8091C>T (p.Arg2697=) rs116686402 0.01940
NM_006147.4(IRF6):c.*558C>T rs73091663 0.01939
NM_001044385.3(TMEM237):c.395+7A>G rs78297522 0.01932
NM_021252.5(RAB18):c.*3939A>T rs1047915 0.01932
NM_022167.4(XYLT2):c.1845G>C (p.Gln615His) rs60712738 0.01931
NM_001032386.2(SUOX):c.-32C>T rs705703 0.01929
NM_020427.3(SLURP1):c.261C>T (p.Ala87=) rs62636564 0.01928
NM_022166.4(XYLT1):c.343G>T (p.Ala115Ser) rs61758388 0.01927
NM_022336.4(EDAR):c.*328G>A rs75703116 0.01927
NM_004782.4(SNAP29):c.*2551G>A rs73162856 0.01926
NM_005045.4(RELN):c.7110T>C (p.Val2370=) rs362746 0.01926
NM_000719.7(CACNA1C):c.2794-136G>T rs56269265 0.01925
NM_207361.6(FREM2):c.*1694A>G rs17443589 0.01925
NM_001082538.3(TCTN1):c.894C>T (p.Leu298=) rs16940927 0.01924
NM_000047.3(ARSL):c.24-26C>T rs2302079 0.01922
NM_003070.5(SMARCA2):c.*716A>G rs1061478 0.01921
NM_001844.5(COL2A1):c.610-7G>A rs7967258 0.01915
NM_000079.4(CHRNA1):c.540+4G>C rs112674580 0.01914
NM_001429.4(EP300):c.1283-8T>C rs76827562 0.01914
NM_001429.4(EP300):c.942C>T (p.Gly314=) rs20553 0.01913
NM_014321.4(ORC6):c.675T>C (p.Asp225=) rs34343511 0.01913
NM_001365999.1(SZT2):c.9441-12C>T rs115595942 0.01911
NM_017780.4(CHD7):c.2124T>C (p.Ser708=) rs79302359 0.01911
NM_005529.7(HSPG2):c.6114C>G (p.Ile2038Met) rs116788687 0.01908
NM_003640.5(ELP1):c.959-15C>T rs112114410 0.01906
NM_006412.4(AGPAT2):c.*535C>T rs138670030 0.01906
NM_017780.4(CHD7):c.5307C>T (p.Ala1769=) rs16926499 0.01905
NM_198525.3(KIF7):c.*139C>T rs8037511 0.01904
NM_000208.4(INSR):c.2643C>T (p.Ile881=) rs2229432 0.01903
NM_006796.3(AFG3L2):c.*2G>A rs113981080 0.01903
NM_133433.4(NIPBL):c.4240-14T>G rs298972 0.01903
NM_001367561.1(DOCK7):c.1389A>C (p.Arg463=) rs35627175 0.01901
NM_000208.4(INSR):c.2542+3A>G rs13306451 0.01900
NM_001379286.1(ZNF423):c.3351G>A (p.Pro1117=) rs113531514 0.01899
NM_002617.4(PEX10):c.820A>G (p.Thr274Ala) rs34154371 0.01899
NM_014141.6(CNTNAP2):c.3797-6C>T rs79777576 0.01899
NM_000182.5(HADHA):c.109+20A>G rs7569108 0.01898
NM_000264.5(PTCH1):c.*231T>C rs28401363 0.01898
NM_020779.4(WDR35):c.*2408G>C rs112569580 0.01898
NM_019892.6(INPP5E):c.603C>G (p.Ile201Met) rs36064831 0.01896
NM_002381.5(MATN3):c.187T>G (p.Ser63Ala) rs3816644 0.01892
NM_025074.7(FRAS1):c.3068G>A (p.Gly1023Glu) rs17459809 0.01892
NM_005055.5(RAPSN):c.*207C>A rs73459751 0.01891
NM_145054.5(CFAP52):c.1065T>C (p.Asp355=) rs57960962 0.01891
NM_001384732.1(CPLANE1):c.1809T>C (p.Thr603=) rs115435816 0.01890
NM_005045.4(RELN):c.4589-8T>G rs362801 0.01890
NM_017946.4(FKBP14):c.165C>T (p.Tyr55=) rs17150692 0.01889
NM_152281.3(GORAB):c.62-3T>C rs73029138 0.01889
NM_003119.4(SPG7):c.1664-15C>A rs80292600 0.01888
NM_000302.4(PLOD1):c.540G>A (p.Gln180=) rs35958757 0.01887
NM_002386.4(MC1R):c.900C>T (p.Phe300=) rs3212367 0.01887
NM_000162.5(GCK):c.*797C>T rs2908276 0.01885
NM_001379081.2(FREM1):c.6255-4T>G rs75897613 0.01885
NM_001276345.2(TNNT2):c.*66G>A rs3729998 0.01883
NM_001367561.1(DOCK7):c.3472-5A>G rs76660788 0.01882
NM_080680.3(COL11A2):c.5165C>T (p.Pro1722Leu) rs2229792 0.01881
NM_153490.3(KRT13):c.736-7C>G rs34367942 0.01881
NM_020191.4(MRPS22):c.283A>C (p.Ile95Leu) rs73866065 0.01879
NM_022725.4(FANCF):c.825G>A (p.Leu275=) rs36045913 0.01879
NM_032444.4(SLX4):c.2824G>C (p.Glu942Gln) rs114014006 0.01879
NM_000135.4(FANCA):c.3408+33T>C rs17227191 0.01875
NM_020312.4(COQ9):c.*411C>T rs112075830 0.01875
NM_002485.5(NBN):c.1914+9C>T rs13312938 0.01874
NM_004304.5(ALK):c.4596C>T (p.Asn1532=) rs1881422 0.01874
NM_005055.5(RAPSN):c.241T>C (p.Phe81Leu) rs57878668 0.01874
NM_194318.4(B3GLCT):c.271-12T>C rs117111131 0.01874
NM_003640.5(ELP1):c.189C>T (p.Leu63=) rs2230786 0.01873
NM_020312.4(COQ9):c.864G>C (p.Lys288Asn) rs61730662 0.01873
NM_020812.4(DOCK6):c.2956-5C>T rs3810309 0.01873
NM_025074.7(FRAS1):c.3124G>A (p.Ala1042Thr) rs114077522 0.01873
NM_133259.4(LRPPRC):c.1432A>G (p.Thr478Ala) rs35035668 0.01872
NM_002381.5(MATN3):c.754G>A (p.Glu252Lys) rs52826764 0.01868
NM_133459.4(CCBE1):c.123C>A (p.Asp41Glu) rs80008675 0.01868
NM_176787.5(PIGN):c.2619+14G>A rs141117706 0.01868
NM_014495.4(ANGPTL3):c.1003T>C (p.Leu335=) rs12563308 0.01867
NM_001365951.3(KIF1B):c.*2698G>A rs115172954 0.01866
NM_004304.5(ALK):c.4203T>C (p.Tyr1401=) rs55772745 0.01865
NM_181486.4(TBX5):c.148-19T>A rs80026530 0.01865
NM_001999.4(FBN2):c.3015G>A (p.Leu1005=) rs28763946 0.01862
NM_016464.5(TMEM138):c.261G>A (p.Val87=) rs35245221 0.01861
NM_000719.7(CACNA1C):c.3718-216G>A rs117621166 0.01860
NM_017617.5(NOTCH1):c.711C>T (p.Gly237=) rs61751557 0.01860
NM_005633.4(SOS1):c.*1731A>G rs79270739 0.01859
NM_147127.5(EVC2):c.3660-18C>A rs6853237 0.01859
NM_000168.6(GLI3):c.2835G>C (p.Leu945=) rs61758978 0.01858
NM_007118.4(TRIO):c.5523C>T (p.Ser1841=) rs17500731 0.01857
NM_005901.6(SMAD2):c.828G>A (p.Ser276=) rs1051066 0.01853
NM_020745.4(AARS2):c.2426T>A (p.Leu809Gln) rs35967387 0.01853
NM_005732.4(RAD50):c.1052-38C>T rs104895045 0.01852
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly) rs17225943 0.01851
NM_022166.4(XYLT1):c.1077C>T (p.His359=) rs35488326 0.01851
NM_000135.4(FANCA):c.*670G>T rs17233812 0.01850
NM_000208.4(INSR):c.2448G>A (p.Thr816=) rs2229434 0.01850
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile) rs61751489 0.01849
NM_032444.4(SLX4):c.*807G>A rs115690937 0.01845
NM_001330078.2(NRXN1):c.900C>T (p.Pro300=) rs2303298 0.01844
NM_000222.3(KIT):c.2847C>T (p.Pro949=) rs56288823 0.01843
NM_000528.4(MAN2B1):c.2221G>A (p.Gly741Arg) rs61234887 0.01841
NM_198525.3(KIF7):c.3665-18C>T rs78862745 0.01841
NM_000090.4(COL3A1):c.1257C>T (p.Ala419=) rs41272837 0.01840
NM_000095.3(COMP):c.511G>A (p.Ala171Thr) rs115338183 0.01840
NM_001127649.3(PEX26):c.*400C>T rs74988725 0.01840
NM_001127649.3(PEX26):c.*692T>C rs79936154 0.01840
NM_032444.4(SLX4):c.*655G>A rs116003727 0.01840
NM_003070.5(SMARCA2):c.2992-8G>A rs77406154 0.01836
NM_005045.4(RELN):c.6672-16C>T rs79610318 0.01836
NM_001127649.3(PEX26):c.*943G>A rs79785382 0.01835
NM_025074.7(FRAS1):c.981+9C>T rs112081709 0.01835
NM_030777.4(SLC2A10):c.1154C>G (p.Ala385Gly) rs79849424 0.01835
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_001384732.1(CPLANE1):c.*889A>G rs75549748 0.01830
NM_174889.5(NDUFAF2):c.462T>C (p.Phe154=) rs77878573 0.01828
NM_001365276.2(TNXB):c.1734C>T (p.Asp578=) rs41270458 0.01827
NM_025132.4(WDR19):c.1357-10T>C rs16995189 0.01827
NM_207361.6(FREM2):c.6606G>A (p.Glu2202=) rs61749310 0.01827
NM_000141.5(FGFR2):c.*469G>A rs41294351 0.01826
NM_001378964.1(CDON):c.*2097G>A rs76179044 0.01826
NM_001077418.3(TMEM231):c.582+3A>G rs114290622 0.01823
NM_003119.4(SPG7):c.1770C>T (p.Ala590=) rs60488729 0.01823
NM_003098.3(SNTA1):c.-96G>A rs145471317 0.01822
NM_016013.4(NDUFAF1):c.558A>G (p.Ile186Met) rs34979001 0.01822
NM_004813.4(PEX16):c.307G>A (p.Val103Met) rs11553094 0.01821
NM_000219.6(KCNE1):c.*2098T>C rs41312993 0.01820
NM_001378964.1(CDON):c.*2717C>T rs12294553 0.01820
NM_207034.3(EDN3):c.*915C>T rs11570357 0.01818
NM_000020.3(ACVRL1):c.*58G>A rs182368657 0.01817
NM_000346.4(SOX9):c.1113G>A (p.Ala371=) rs929651 0.01816
NM_001384732.1(CPLANE1):c.5900+7G>T rs78315844 0.01816
NM_004380.3(CREBBP):c.2784G>A (p.Pro928=) rs3025694 0.01815
NM_000208.4(INSR):c.*1432C>T rs111557734 0.01814
NM_000537.4(REN):c.649G>A (p.Gly217Arg) rs11571117 0.01814
NM_001365276.2(TNXB):c.3380A>G (p.Lys1127Arg) rs61910712 0.01812
NM_001005498.4(RHBDF2):c.-115G>A rs73998928 0.01811
NM_018122.5(DARS2):c.397-6T>G rs115051769 0.01810
NM_000314.8(PTEN):c.*2415C>G rs34761252 0.01809
NM_001384732.1(CPLANE1):c.*641C>T rs116744214 0.01809
NM_001384732.1(CPLANE1):c.5512A>G (p.Thr1838Ala) rs76245173 0.01809
NM_018006.5(TRMU):c.*8G>C rs55905826 0.01809
NM_022455.5(NSD1):c.2071G>A (p.Ala691Thr) rs28932177 0.01809
NM_182760.4(SUMF1):c.602+13C>T rs80204284 0.01808
NM_000182.5(HADHA):c.1620+11G>C rs112236946 0.01807
NM_020779.4(WDR35):c.*3268C>T rs113280329 0.01807
NM_000226.4(KRT9):c.42C>T (p.Ser14=) rs116077803 0.01806
NM_002334.4(LRP4):c.5165T>A (p.Leu1722His) rs117936904 0.01806
NM_018136.5(ASPM):c.2419+12G>A rs77191836 0.01806
NC_000009.12:g.132891337C>T rs79220715 0.01804
NM_001371623.1(TCOF1):c.4295G>C (p.Gly1432Ala) rs45491898 0.01804
NM_000082.4(ERCC8):c.*458T>C rs4647156 0.01803
NM_004380.3(CREBBP):c.7212A>G (p.Glu2404=) rs55916120 0.01802
NM_001374353.1(GLI2):c.1633-17C>T rs78949549 0.01801
NM_003052.5(SLC34A1):c.223C>T (p.Pro75Ser) rs61753440 0.01801
NM_012463.4(ATP6V0A2):c.1016G>A (p.Arg339His) rs74922060 0.01800
NM_020779.4(WDR35):c.*1479C>T rs77400381 0.01800
NM_015311.3(OBSL1):c.4032C>G (p.Pro1344=) rs112751766 0.01798
NM_181486.4(TBX5):c.*384T>C rs12426660 0.01798
NM_001367624.2(ZNF469):c.6944C>G (p.Pro2315Arg) rs77490207 0.01795
NM_006371.5(CRTAP):c.*777C>A rs116759530 0.01795
NM_005138.2(SCO2):c.-142G>C rs145052206 0.01794
NM_022039.4(FBXW4):c.*259C>T rs80085258 0.01794
NM_001377299.1(NDUFS2):c.986+12A>G rs11265565 0.01793
NM_004260.4(RECQL4):c.2395G>A (p.Val799Met) rs34293591 0.01793
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala) rs35852101 0.01792
NM_001113378.2(FANCI):c.3651+19G>A rs73472624 0.01789
NM_001002755.4(NFU1):c.62+9C>T rs114846829 0.01785
NM_006121.4(KRT1):c.1360G>T (p.Ala454Ser) rs17678945 0.01785
NM_000181.4(GUSB):c.-12G>A rs2279903 0.01784
NM_000219.6(KCNE1):c.-375A>G rs41315349 0.01784
NM_004525.3(LRP2):c.4344C>G (p.Ala1448=) rs35297090 0.01784
NM_152269.5(MTRFR):c.44G>A (p.Arg15Gln) rs78651634 0.01784
NM_001136271.3(NKX2-6):c.786C>G (p.Gly262=) rs61749320 0.01783
NM_000719.7(CACNA1C):c.5680+15C>T rs114036394 0.01782
NM_020745.4(AARS2):c.2548A>G (p.Met850Val) rs35783144 0.01782
NM_000256.3(MYBPC3):c.*236G>A rs11570121 0.01781
NM_003477.3(PDHX):c.531C>T (p.Pro177=) rs76486106 0.01781
NM_000136.3(FANCC):c.*2085C>A rs4647559 0.01780
NM_000719.7(CACNA1C):c.3913-6520C>A rs75808668 0.01780
NM_001109878.2(TBX22):c.949+12T>G rs151121450 0.01780
NM_003119.4(SPG7):c.2037G>A (p.Ala679=) rs79756036 0.01778
NM_006412.4(AGPAT2):c.317-7C>T rs74584184 0.01776
NM_133259.4(LRPPRC):c.*825A>G rs17031753 0.01776
NM_001367624.2(ZNF469):c.5697C>T (p.Ser1899=) rs111986360 0.01774
NM_000020.3(ACVRL1):c.314-65G>C rs113559681 0.01773
NM_001278716.2(FBXL4):c.*3T>C rs115180578 0.01773
NM_014141.6(CNTNAP2):c.318C>T (p.Ser106=) rs61732853 0.01773
NM_001002755.2(NFU1):c.-166T>C rs73934936 0.01772
NM_213599.3(ANO5):c.2259A>G (p.Ser753=) rs61746201 0.01772
NM_001852.4(COL9A2):c.2001C>T (p.Ala667=) rs2229826 0.01771
NM_006371.5(CRTAP):c.*4623A>C rs75873340 0.01770
NM_015100.4(POGZ):c.4095G>T (p.Glu1365Asp) rs35198305 0.01770
NM_001303.4(COX10):c.*438G>C rs75823746 0.01767
NM_014780.5(CUL7):c.2612C>T (p.Ala871Val) rs61732148 0.01767
NM_133259.4(LRPPRC):c.*1088G>C rs79225555 0.01767
NM_001083961.2(WDR62):c.2281C>T (p.His761Tyr) rs61744321 0.01766
NM_181486.4(TBX5):c.1281C>T (p.Ser427=) rs6489957 0.01766
NM_000316.3(PTH1R):c.1636G>A (p.Glu546Lys) rs77048718 0.01765
NM_020436.5(SALL4):c.2130G>A (p.Thr710=) rs61737143 0.01764
NM_002408.4(MGAT2):c.261G>T (p.Leu87=) rs2228449 0.01763
NM_001303.4(COX10):c.*974C>A rs2071245 0.01762
NM_001378964.1(CDON):c.1671G>A (p.Lys557=) rs35884952 0.01761
NM_022725.4(FANCF):c.*319A>G rs12294705 0.01761
NM_000891.3(KCNJ2):c.*3496T>C rs3815307 0.01760
NM_017617.5(NOTCH1):c.2205C>T (p.Asn735=) rs2229970 0.01759
NM_001303.4(COX10):c.290A>G (p.Tyr97Cys) rs16948986 0.01758
NM_016955.4(SEPSECS):c.*2966A>G rs115116065 0.01758
NM_198253.3(TERT):c.1950+10C>T rs33948291 0.01758
NM_001953.5(TYMP):c.204C>T (p.Gly68=) rs34375653 0.01755
NM_004429.5(EFNB1):c.566T>C (p.Val189Ala) rs16989105 0.01754
NM_017636.4(TRPM4):c.3641-19C>G rs7256050 0.01753
NM_001365951.3(KIF1B):c.363+6A>C rs114084418 0.01751
NM_001379081.2(FREM1):c.3708G>A (p.Thr1236=) rs61747541 0.01749
NM_003477.3(PDHX):c.438C>T (p.Asp146=) rs75182779 0.01749
NM_015937.6(PIGT):c.770A>C (p.Asp257Ala) rs61753669 0.01749
NM_003477.3(PDHX):c.*123A>G rs59918794 0.01748
NM_004304.5(ALK):c.*111C>T rs74669215 0.01748
NM_003640.5(ELP1):c.*392A>G rs10979577 0.01747
NM_006306.4(SMC1A):c.*5481G>A rs147896900 0.01746
NM_080916.3(DGUOK):c.159G>A (p.Thr53=) rs62641680 0.01745
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311 0.01744
NM_001122681.2(SH3BP2):c.*5162A>G rs73794814 0.01744
NM_153704.6(TMEM67):c.*19T>C rs55850117 0.01744
NM_022458.4(LMBR1):c.*722G>C rs11982416 0.01743
NM_004153.4(ORC1):c.2447T>C (p.Met816Thr) rs34521609 0.01742
NM_000020.3(ACVRL1):c.*1560A>C rs80260084 0.01740
NM_000089.4(COL1A2):c.82-12A>G rs143689469 0.01736
NM_003070.5(SMARCA2):c.2770-7C>G rs114448411 0.01734
NM_004525.3(LRP2):c.6035G>A (p.Arg2012Lys) rs4667596 0.01732
NM_025074.7(FRAS1):c.*1289G>A rs113324102 0.01731
NM_005006.7(NDUFS1):c.*399G>A rs77000728 0.01727
NM_002076.4(GNS):c.*1456C>T rs144199387 0.01725
NM_000512.5(GALNS):c.240G>A (p.Ser80=) rs11865929 0.01724
NM_007059.4(KPTN):c.1245G>A (p.Arg415=) rs1046273 0.01724
NM_002010.3(FGF9):c.*2585C>T rs74036838 0.01723
NM_014918.5(CHSY1):c.1896C>T (p.Val632=) rs3803423 0.01721
NM_001110219.3(GJB6):c.-105T>A rs114639494 0.01720
NM_020754.4(ARHGAP31):c.1614A>G (p.Glu538=) rs61744411 0.01720
NM_001365276.2(TNXB):c.5823C>T (p.Ser1941=) rs116094055 0.01719
NM_002474.3(MYH11):c.*544G>A rs116721094 0.01717
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) rs45551636 0.01717
NM_001174147.2(LMX1B):c.930G>A (p.Thr310=) rs112171815 0.01716
NM_001083962.2(TCF4):c.*451A>G rs115039389 0.01715
NM_032444.4(SLX4):c.*984C>T rs57699393 0.01715
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu) rs76148000 0.01714
NM_001354604.2(MITF):c.330G>A (p.Thr110=) rs9849776 0.01713
NM_001378964.1(CDON):c.1296G>A (p.Pro432=) rs11220313 0.01713
NM_145054.5(CFAP52):c.1392G>T (p.Val464=) rs73975761 0.01713
NM_005996.4(TBX3):c.1173G>C (p.Ala391=) rs146589414 0.01711
NM_000093.5(COL5A1):c.4955-16C>T rs112712705 0.01710
NM_001080432.3(FTO):c.*1860A>C rs77984007 0.01710
NM_003482.4(KMT2D):c.7188T>C (p.Cys2396=) rs111305262 0.01710
NM_000208.4(INSR):c.*2793C>A rs9282760 0.01708
NM_001080432.3(FTO):c.*1315C>T rs76606072 0.01708
NM_018451.5(CPAP):c.1881G>A (p.Pro627=) rs75985315 0.01708
NM_024120.5(NDUFAF5):c.582C>T (p.Leu194=) rs117002283 0.01707
NM_022458.4(LMBR1):c.*1905C>G rs115581794 0.01706
NM_001080432.3(FTO):c.*2334G>A rs113662449 0.01705
NM_005996.4(TBX3):c.619C>T (p.Leu207=) rs35069811 0.01702
NM_000214.3(JAG1):c.2766C>T (p.Asp922=) rs2229895 0.01701
NM_025136.4(OPA3):c.*3972C>T rs147972697 0.01701
NM_001429.4(EP300):c.2499G>A (p.Ser833=) rs35560602 0.01700
NM_001429.4(EP300):c.6372C>T (p.Val2124=) rs34985152 0.01700
NM_002334.4(LRP4):c.1117C>T (p.Arg373Trp) rs118009068 0.01699
NM_002474.3(MYH11):c.3858+813T>C rs113405225 0.01698
NM_002857.4(PEX19):c.*328A>G rs115260345 0.01698
NM_006329.4(FBLN5):c.*514A>G rs17804735 0.01698
NM_138959.3(VANGL1):c.1040A>C (p.Glu347Ala) rs34059106 0.01695
NM_198859.4(PRICKLE2):c.1551G>A (p.Gln517=) rs116353694 0.01695
NM_001122681.2(SH3BP2):c.*1420C>T rs56100883 0.01691
NM_001134831.2(AHI1):c.3053A>C (p.Gln1018Pro) rs6940875 0.01691
NM_017646.6(TRIT1):c.1098C>T (p.Ile366=) rs16826617 0.01691
NM_000168.6(GLI3):c.*2019C>T rs73318085 0.01690
NM_000093.5(COL5A1):c.5067+20C>G rs112600748 0.01689
NM_004560.4(ROR2):c.1045C>G (p.His349Asp) rs55983376 0.01689
NM_000141.5(FGFR2):c.-458C>A rs41301043 0.01688
NM_022166.4(XYLT1):c.913+9C>T rs79173410 0.01688
NM_025074.7(FRAS1):c.2660C>G (p.Thr887Ser) rs74510691 0.01688
NM_002471.4(MYH6):c.3408G>A (p.Lys1136=) rs28730770 0.01687
NM_020639.3(RIPK4):c.1587G>A (p.Ser529=) rs61740546 0.01687
NM_182480.3(COQ6):c.41G>A (p.Trp14Ter) rs17094161 0.01687
NM_052859.4(RFT1):c.*1009G>A rs73840205 0.01686
NM_001271938.2(MEGF8):c.7054G>A (p.Val2352Met) rs112167630 0.01684
NM_001134831.2(AHI1):c.3015A>G (p.Ser1005=) rs41287054 0.01682
NM_001374828.1(ARID1B):c.4893T>C (p.His1631=) rs61747988 0.01682
NM_000368.5(TSC1):c.*1468C>T rs72759433 0.01681
NM_000428.3(LTBP2):c.1021+14G>A rs150408645 0.01681
NM_006623.4(PHGDH):c.139-13T>C rs894078 0.01680
NM_001113378.2(FANCI):c.1114G>A (p.Val372Ile) rs76788798 0.01679
NM_004304.5(ALK):c.*63A>G rs182561050 0.01679
NM_001852.4(COL9A2):c.955-4C>G rs118135975 0.01678
NM_001122681.2(SH3BP2):c.*3743G>A rs114380025 0.01677
NM_000719.7(CACNA1C):c.5649G>A (p.Pro1883=) rs56270948 0.01676
NM_001365951.3(KIF1B):c.*2869C>T rs3748580 0.01676
NM_021252.5(RAB18):c.260-7dup rs142609338 0.01674
NM_002076.4(GNS):c.459+14T>C rs78614637 0.01673
NM_006147.4(IRF6):c.*1246C>G rs58161850 0.01673
NM_001151.4(SLC25A4):c.*957T>C rs11930741 0.01671
NM_007078.3(LDB3):c.752A>G (p.Lys251Arg) rs34423165 0.01671
NM_020745.4(AARS2):c.420G>A (p.Gly140=) rs75506489 0.01671
NM_025265.4(TSEN2):c.963G>A (p.Glu321=) rs17036879 0.01671
NM_000135.4(FANCA):c.*1011C>T rs17227452 0.01670
NM_020745.4(AARS2):c.2440G>A (p.Val814Met) rs111325758 0.01670
NM_002693.3(POLG):c.3483-164A>C rs3176231 0.01667
NM_020745.4(AARS2):c.1753-13T>C rs80339975 0.01667
NM_025215.6(PUS1):c.*16C>T rs116003934 0.01667
NM_005413.4(SIX3):c.90G>T (p.Ala30=) rs78018362 0.01666
NM_004252.5(NHERF1):c.328C>G (p.Leu110Val) rs35910969 0.01664
NM_207361.6(FREM2):c.*1624G>A rs17443575 0.01664
NM_007118.4(TRIO):c.6154-47G>A rs62345860 0.01662
NM_207361.6(FREM2):c.9429G>A (p.Gly3143=) rs41306662 0.01662
NM_018668.5(VPS33B):c.597C>T (p.Cys199=) rs60198611 0.01658
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His) rs61751543 0.01655
NM_152383.5(DIS3L2):c.1170C>T (p.Leu390=) rs17272089 0.01655
NM_001271938.2(MEGF8):c.7053C>T (p.Cys2351=) rs28483598 0.01653
NM_000428.3(LTBP2):c.3852C>T (p.Arg1284=) rs61736977 0.01652
NM_004813.4(PEX16):c.760G>C (p.Val254Leu) rs35214605 0.01652
NM_001374353.1(GLI2):c.3892C>T (p.Pro1298Ser) rs114376238 0.01651
NM_002148.4(HOXD10):c.*585C>T rs72923454 0.01649
NM_024996.7(GFM1):c.-11C>T rs112860155 0.01649
NM_000925.4(PDHB):c.435= (p.Arg145=) rs1438518070 0.01648
NM_001743.6(CALM2):c.421+18A>G rs2016682 0.01645
NM_001379081.2(FREM1):c.1512C>T (p.His504=) rs61735720 0.01644
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp) rs78676079 0.01642
NM_020754.4(ARHGAP31):c.682+19A>C rs72966429 0.01642
NM_003070.5(SMARCA2):c.*620T>C rs7048532 0.01641
NM_003640.5(ELP1):c.751A>G (p.Ser251Gly) rs17853166 0.01640
NM_001271938.2(MEGF8):c.3351-3C>T rs10411498 0.01637
NM_001134831.2(AHI1):c.2624-6A>G rs41288015 0.01635
NM_006329.4(FBLN5):c.1122C>T (p.Tyr374=) rs145515678 0.01635
NM_000071.3(CBS):c.*540G>A rs111386779 0.01634
NM_001113378.2(FANCI):c.868G>A (p.Val290Met) rs113772230 0.01634
NM_003923.3(FOXH1):c.1077G>A (p.Leu359=) rs7833404 0.01634
NM_001382391.1(CSPP1):c.3138A>G (p.Lys1046=) rs76567936 0.01632
NM_139057.4(ADAMTS17):c.*2324G>A rs8041395 0.01632
NM_000082.4(ERCC8):c.*36C>T rs4647152 0.01630
NM_007055.4(POLR3A):c.1724A>T (p.Lys575Met) rs56214655 0.01630
NM_021625.5(TRPV4):c.387-4C>T rs12305439 0.01630
NM_207034.3(EDN3):c.*957C>T rs3026572 0.01630
NM_018451.5(CPAP):c.2031C>T (p.Ala677=) rs61729909 0.01628
NM_033337.3(CAV3):c.171G>A (p.Val57=) rs61147808 0.01628
NM_000135.4(FANCA):c.*679T>G rs17233833 0.01627
NM_001384732.1(CPLANE1):c.5314A>G (p.Ser1772Gly) rs79377186 0.01627
NM_001384732.1(CPLANE1):c.3795T>A (p.Val1265=) rs74478954 0.01626
NM_022095.4(ZNF335):c.2167T>G (p.Phe723Val) rs41305805 0.01624
NM_021939.4(FKBP10):c.732A>G (p.Thr244=) rs8078775 0.01623
NM_005529.7(HSPG2):c.2869A>C (p.Asn957His) rs62618730 0.01621
NM_207034.3(EDN3):c.*864C>G rs3026573 0.01621
NM_001365276.2(TNXB):c.517G>A (p.Ala173Thr) rs61746206 0.01620
NM_000404.4(GLB1):c.325C>T (p.Arg109Trp) rs35289681 0.01618
NM_006129.5(BMP1):c.2115C>T (p.Asp705=) rs61729094 0.01618
NM_138959.3(VANGL1):c.*3544C>T rs74117023 0.01618
NM_001127671.2(LIFR):c.*426G>A rs116625329 0.01616
NM_015338.6(ASXL1):c.2250C>T (p.Pro750=) rs35712951 0.01615
NM_000719.7(CACNA1C):c.5383G>A (p.Gly1795Arg) rs111298509 0.01614
NM_001367624.2(ZNF469):c.3894G>C (p.Val1298=) rs115790991 0.01614
NM_003640.5(ELP1):c.2587+14C>T rs141670242 0.01614
NM_020937.4(FANCM):c.4799C>T (p.Thr1600Ile) rs61746943 0.01614
NM_005045.4(RELN):c.10182-11G>A rs57844600 0.01613
NM_000104.4(CYP1B1):c.1328C>G (p.Ala443Gly) rs4986888 0.01612
NM_003184.4(TAF2):c.3471G>A (p.Lys1157=) rs61753747 0.01612
NM_030973.4(MED25):c.1483-7C>T rs2017698 0.01612
NM_001174147.2(LMX1B):c.*2345G>A rs74429080 0.01611
NM_001365276.2(TNXB):c.11387-9T>C rs2894233 0.01611
NM_003001.5(SDHC):c.-38G>A rs112556972 0.01611
NM_001151.4(SLC25A4):c.*2050A>G rs76364770 0.01609
NM_025114.4(CEP290):c.829G>C (p.Glu277Gln) rs45502896 0.01608
NM_025136.4(OPA3):c.*7085A>G rs67373144 0.01608
NM_207361.6(FREM2):c.3116T>A (p.Met1039Lys) rs2496424 0.01608
NM_000208.4(INSR):c.3795-5C>T rs78312382 0.01607
NM_001370259.2(MEN1):c.*302C>T rs1804849 0.01607
NM_032861.4(SERAC1):c.1293G>A (p.Thr431=) rs73797641 0.01607
NM_001122681.2(SH3BP2):c.276C>T (p.Asn92=) rs140326137 0.01605
NM_004370.6(COL12A1):c.8980T>C (p.Ser2994Pro) rs34846477 0.01603
NM_000428.3(LTBP2):c.*2463G>T rs10141546 0.01598
NM_004304.5(ALK):c.2039C>T (p.Thr680Ile) rs35228363 0.01598
NM_001361.5(DHODH):c.819+10G>A rs114267707 0.01597
NM_001378964.1(CDON):c.1051C>G (p.Pro351Ala) rs35665264 0.01595
NM_013275.6(ANKRD11):c.6924C>T (p.Gly2308=) rs146575027 0.01595
NM_015100.4(POGZ):c.930A>G (p.Thr310=) rs115103475 0.01595
NM_024537.4(CARS2):c.647G>A (p.Gly216Glu) rs146773721 0.01595
NM_001351132.2(PEX5):c.*75G>A rs112966367 0.01593
NM_004715.5(CTDP1):c.492+7C>T rs115851227 0.01593
NM_021926.4(ALX4):c.*972C>T rs151214135 0.01593
NM_003640.5(ELP1):c.2855A>T (p.Lys952Ile) rs2230798 0.01592
NM_022356.4(P3H1):c.1284C>T (p.Ile428=) rs61746642 0.01592
NM_000141.5(FGFR2):c.*403A>G rs3135826 0.01590
NM_004370.6(COL12A1):c.6444A>T (p.Ile2148=) rs36002196 0.01590
NM_001104631.2(PDE4D):c.2427G>A (p.Thr809=) rs7736186 0.01589
NM_004004.6(GJB2):c.-15C>T rs72561725 0.01589
NM_002834.5(PTPN11):c.*670G>A rs112287134 0.01588
NM_198239.2(CCN6):c.237C>T (p.Ala79=) rs112665393 0.01588
NM_001148.6(ANK2):c.7007C>T (p.Ala2336Val) rs61734477 0.01587
NM_000393.5(COL5A2):c.4449C>T (p.Gly1483=) rs78905646 0.01586
NM_024596.5(MCPH1):c.634G>A (p.Ala212Thr) rs2922828 0.01586
NM_000719.7(CACNA1C):c.171C>T (p.Asp57=) rs34419050 0.01584
NM_194318.4(B3GLCT):c.672C>T (p.Tyr224=) rs35019745 0.01584
NM_206937.2(LIG4):c.*54G>A rs2232643 0.01584
NM_001451.3(FOXF1):c.873C>T (p.Ser291=) rs61753347 0.01583
NM_170665.4(ATP2A2):c.220-18G>A rs35235621 0.01583
NM_012463.4(ATP6V0A2):c.*1205C>G rs6488903 0.01582
NM_022356.4(P3H1):c.1026C>T (p.Ala342=) rs61100157 0.01581
NM_012082.4(ZFPM2):c.3369A>G (p.Leu1123=) rs16873744 0.01580
NM_013275.6(ANKRD11):c.6084C>T (p.Pro2028=) rs189297725 0.01580
NM_022356.4(P3H1):c.1569+3A>G rs76871760 0.01579
NM_000553.6(WRN):c.3236C>T (p.Ser1079Leu) rs3087414 0.01577
NM_022356.4(P3H1):c.1812C>T (p.Pro604=) rs34809608 0.01577
NM_017929.5(PEX26):c.-148C>T rs115617644 0.01576
NM_006031.6(PCNT):c.6739C>T (p.His2247Tyr) rs61735812 0.01575
NM_007059.4(KPTN):c.1000-14C>T rs114753604 0.01575
NM_000124.4(ERCC6):c.2825C>T (p.Thr942Met) rs2228525 0.01573
NM_001369268.1(ACAN):c.1051+10G>A rs75524333 0.01573
NM_001358530.2(MOCS1):c.1715G>A (p.Arg572His) rs41273140 0.01571
NM_002470.4(MYH3):c.4128C>T (p.Tyr1376=) rs112569418 0.01571
NM_021939.4(FKBP10):c.1400-4C>G rs114199361 0.01571
NM_139057.4(ADAMTS17):c.*1729G>A rs58739070 0.01571
NM_139057.4(ADAMTS17):c.2472C>T (p.Ile824=) rs61752831 0.01571
NM_181486.4(TBX5):c.*812C>T rs143511878 0.01571
NM_004239.4(TRIP11):c.-331C>G rs1955683 0.01570
NM_012318.3(LETM1):c.326A>G (p.His109Arg) rs62623389 0.01570
NM_004239.4(TRIP11):c.405T>C (p.Ala135=) rs77981249 0.01569
NM_000308.4(CTSA):c.1353G>A (p.Thr451=) rs25649 0.01568
NM_000264.5(PTCH1):c.318C>T (p.Leu106=) rs1805153 0.01567
NM_001148.6(ANK2):c.6634G>A (p.Gly2212Ser) rs61734478 0.01567
NM_001614.5(ACTG1):c.399C>T (p.Tyr133=) rs2230158 0.01567
NM_002755.4(MAP2K1):c.438+20C>T rs16949939 0.01567
NM_004239.4(TRIP11):c.5781G>A (p.Ser1927=) rs3742719 0.01567
NM_020975.6(RET):c.2944C>T (p.Arg982Cys) rs17158558 0.01567
NM_001254.4(CDC6):c.883G>A (p.Asp295Asn) rs4135012 0.01566
NM_004260.4(RECQL4):c.3480G>A (p.Val1160=) rs34914400 0.01566
NM_139057.4(ADAMTS17):c.*1774C>T rs74037056 0.01566
NM_001083962.2(TCF4):c.*53C>A rs111947783 0.01565
NM_001614.5(ACTG1):c.729C>T (p.Pro243=) rs2230159 0.01563
NM_005751.5(AKAP9):c.2782T>C (p.Leu928=) rs34370932 0.01563
NM_014918.5(CHSY1):c.1052A>G (p.Lys351Arg) rs74752435 0.01562
NM_001001433.3(STX16):c.*2080G>A rs111631847 0.01560
NM_001174147.2(LMX1B):c.*127C>T rs113846301 0.01560
NM_004380.3(CREBBP):c.5670C>T (p.Pro1890=) rs115594471 0.01560
NM_001194998.2(CEP152):c.4299T>C (p.His1433=) rs114085678 0.01559
NM_181486.4(TBX5):c.*601G>A rs116382074 0.01559
NM_000112.4(SLC26A2):c.*2617C>T rs188922059 0.01558
NM_003282.4(TNNI2):c.277-17G>A rs112517111 0.01558
NM_213720.3(CHCHD10):c.42-7C>G rs567239313 0.01558
NM_133459.4(CCBE1):c.*1040C>T rs78905013 0.01557
NM_000020.3(ACVRL1):c.*2422A>G rs706820 0.01556
NM_000393.5(COL5A2):c.*1400A>G rs12886 0.01556
NM_000526.5(KRT14):c.1237G>A (p.Ala413Thr) rs59780231 0.01556
NM_001854.4(COL11A1):c.651+16A>G rs116303092 0.01555
NM_002880.4(RAF1):c.*348T>C rs5746247 0.01554
NM_005359.6(SMAD4):c.*5170C>T rs117142232 0.01554
NM_001136193.2(FASTKD2):c.*9T>C rs10194665 0.01553
NM_000393.5(COL5A2):c.1006-9C>T rs73978832 0.01552
NM_004260.4(RECQL4):c.2464-17T>C rs35066227 0.01552
NM_005751.5(AKAP9):c.10608-15G>C rs112467497 0.01552
NM_015311.3(OBSL1):c.1884C>T (p.Tyr628=) rs115194510 0.01551
NM_001127671.2(LIFR):c.*988G>A rs3776425 0.01550
NM_001429.4(EP300):c.3426C>T (p.Cys1142=) rs76268515 0.01549
NM_000020.3(ACVRL1):c.*1776C>T rs78150616 0.01548
NM_001303.4(COX10):c.*1101C>T rs75165393 0.01548
NM_006031.6(PCNT):c.7652C>T (p.Ala2551Val) rs12481791 0.01548
NM_000435.3(NOTCH3):c.2039G>A (p.Arg680His) rs10406745 0.01547
NM_001011658.4(TRAPPC2):c.*1599T>C rs146362855 0.01547
NM_005660.3(SLC35A2):c.43C>A (p.Pro15Thr) rs55719932 0.01547
NM_005045.4(RELN):c.8950+16G>A rs76565991 0.01546
NM_000218.3(KCNQ1):c.1455C>T (p.Phe485=) rs17215465 0.01545
NM_006031.6(PCNT):c.5742G>A (p.Ala1914=) rs61735810 0.01545
NM_021252.5(RAB18):c.*1542T>C rs10508724 0.01545
NM_000512.5(GALNS):c.566+10C>T rs77514811 0.01544
NM_001042492.3(NF1):c.2851-16T>C rs17880825 0.01543
NM_003860.4(BANF1):c.*177G>A rs148797275 0.01543
NM_021252.5(RAB18):c.*504A>G rs12571836 0.01543
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu) rs116298748 0.01542
NM_001011658.4(TRAPPC2):c.*490C>T rs186451206 0.01542
NM_001365999.1(SZT2):c.5535T>G (p.Ser1845Arg) rs114759137 0.01542
NM_207361.6(FREM2):c.*3929G>T rs79571295 0.01542
NM_153490.3(KRT13):c.384C>T (p.Ala128=) rs149623369 0.01541
NM_001130144.3(LTBP3):c.3108C>T (p.Asp1036=) rs79320058 0.01540
NM_001127671.2(LIFR):c.*4056G>T rs73077449 0.01539
NM_018026.4(PACS1):c.957C>G (p.Thr319=) rs76179533 0.01539
NM_000719.7(CACNA1C):c.2664-226C>G rs115345429 0.01538
NM_002496.4(NDUFS8):c.-45A>C rs4147776 0.01538
NC_000007.14:g.156769277A>G rs116462624 0.01536
NM_014918.5(CHSY1):c.1812G>A (p.Val604=) rs3803422 0.01536
NM_000719.7(CACNA1C):c.2663+188C>T rs117244626 0.01535
NM_000428.3(LTBP2):c.*2044G>A rs73296214 0.01534
NM_001361.5(DHODH):c.*1014C>T rs79926352 0.01533
NM_004168.4(SDHA):c.1664-8G>A rs199790689 0.01533
NM_017780.4(CHD7):c.6738G>A (p.Glu2246=) rs61729627 0.01533
NM_030973.4(MED25):c.-12A>G rs114843375 0.01532
NM_000112.4(SLC26A2):c.*4391G>T rs150508217 0.01531
NM_133433.4(NIPBL):c.781T>G (p.Ser261Ala) rs16903425 0.01529
NM_000286.3(PEX12):c.*636T>C rs111424374 0.01528
NM_001127671.2(LIFR):c.1886-18C>T rs3729743 0.01528
NM_001042492.3(NF1):c.4929G>A (p.Val1643=) rs17880521 0.01527
NM_002465.4(MYBPC1):c.556+9G>A rs112788142 0.01527
NM_000286.3(PEX12):c.*297T>C rs113891712 0.01526
NM_152564.5(VPS13B):c.10065G>T (p.Ala3355=) rs61753726 0.01526
NM_000020.3(ACVRL1):c.1377+636C>T rs706817 0.01525
NM_001879.6(MASP1):c.1703T>C (p.Val568Ala) rs13322090 0.01525
NM_005529.7(HSPG2):c.9329-7C>T rs2270695 0.01525
NM_004525.3(LRP2):c.11759-5T>G rs76488092 0.01524
NM_001354604.2(MITF):c.*2458G>A rs77962238 0.01521
NM_005529.7(HSPG2):c.9329-8C>T rs2270696 0.01521
NM_152558.5(IQCE):c.212G>A (p.Arg71Gln) rs61736920 0.01521
NM_020184.4(CNNM4):c.1947C>T (p.Ser649=) rs41286594 0.01520
NM_001080432.3(FTO):c.*2180C>T rs147409759 0.01518
NM_001369268.1(ACAN):c.6009T>C (p.Tyr2003=) rs35676128 0.01518
NM_001374828.1(ARID1B):c.4864A>T (p.Met1622Leu) rs34870395 0.01518
NM_000719.7(CACNA1C):c.1114-145A>G rs114000334 0.01517
NM_001082538.3(TCTN1):c.1396G>T (p.Gly466Cys) rs118096349 0.01517
NM_001174147.2(LMX1B):c.*1574G>T rs148173186 0.01517
NM_005908.4(MANBA):c.2482G>A (p.Val828Ile) rs75826658 0.01517
NM_006662.3(SRCAP):c.4293C>G (p.Val1431=) rs79597785 0.01517
NM_030973.4(MED25):c.2031G>A (p.Ala677=) rs57854058 0.01517
NM_025074.7(FRAS1):c.727A>G (p.Ile243Val) rs6848030 0.01516
NM_001330677.2(TBX15):c.519C>T (p.Tyr173=) rs61730013 0.01515
NM_004168.4(SDHA):c.1305G>T (p.Leu435=) rs35964044 0.01515
NM_018136.5(ASPM):c.5579C>T (p.Ala1860Val) rs77138363 0.01515
NM_007059.4(KPTN):c.1056C>T (p.His352=) rs73940855 0.01514
NM_018136.5(ASPM):c.5821T>C (p.Cys1941Arg) rs61249253 0.01514
NM_018136.5(ASPM):c.7787T>C (p.Val2596Ala) rs79572771 0.01514
NM_001122681.2(SH3BP2):c.*2510A>G rs74805026 0.01513
NM_018136.5(ASPM):c.5063C>T (p.Thr1688Ile) rs62624968 0.01513
NM_004544.4(NDUFA10):c.*2511C>T rs74540213 0.01512
NM_006306.4(SMC1A):c.412-10C>T rs149219651 0.01511
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser) rs61751542 0.01511
NM_000428.3(LTBP2):c.3262G>A (p.Gly1088Ser) rs61505039 0.01509
NM_005751.5(AKAP9):c.10331A>G (p.Gln3444Arg) rs34956633 0.01509
NM_022369.4(STRA6):c.597+9T>G rs28541560 0.01509
NM_000514.4(GDNF):c.*1389A>G rs78613670 0.01508
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) rs45494092 0.01508
NM_000789.4(ACE):c.3691+5C>T rs12720744 0.01507
NM_018006.5(TRMU):c.442G>A (p.Glu148Lys) rs34012206 0.01506
NM_000136.3(FANCC):c.*359A>G rs4647551 0.01505
NM_024996.7(GFM1):c.1990G>A (p.Val664Ile) rs62288347 0.01504
NM_023110.3(FGFR1):c.2187-6C>T rs4647904 0.01503
NM_017866.6(TMEM70):c.*494T>C rs143011318 0.01502
NM_032520.5(GNPTG):c.*224T>C rs7192408 0.01502
NM_004168.4(SDHA):c.-4A>G rs377134185 0.01501
NM_019892.6(INPP5E):c.1388-13C>T rs78828148 0.01500
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met) rs36051194 0.01499
NM_004380.3(CREBBP):c.1953T>C (p.Tyr651=) rs130003 0.01499
NM_018026.4(PACS1):c.102G>A (p.Pro34=) rs75352646 0.01498
NM_000208.4(INSR):c.*3592A>G rs75499056 0.01497
NM_001354604.2(MITF):c.*1150T>C rs150314710 0.01496
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362 0.01494
NM_006031.6(PCNT):c.7800G>A (p.Ala2600=) rs61735820 0.01494
NM_001104631.2(PDE4D):c.*1850T>C rs77207456 0.01493
NM_001379081.2(FREM1):c.4466G>A (p.Arg1489Gln) rs61732355 0.01493
NM_020297.4(ABCC9):c.1848C>T (p.Asp616=) rs61001398 0.01493
NM_022114.4(PRDM16):c.2793C>T (p.Asn931=) rs59135929 0.01493
NM_022166.4(XYLT1):c.1994C>T (p.Thr665Met) rs79030430 0.01493
NM_152564.5(VPS13B):c.9330+10T>A rs75904081 0.01493
NM_000202.8(IDS):c.641C>T (p.Thr214Met) rs61736892 0.01492
NM_000335.5(SCN5A):c.*1165C>T rs41313017 0.01492
NM_005045.4(RELN):c.2932A>G (p.Thr978Ala) rs3025962 0.01491
NM_025074.7(FRAS1):c.1286C>A (p.Ser429Tyr) rs6838959 0.01491
NM_013275.6(ANKRD11):c.1020G>A (p.Thr340=) rs142539117 0.01490
NM_005359.6(SMAD4):c.*5083G>A rs145596898 0.01488
NM_015338.6(ASXL1):c.374-9C>T rs6087903 0.01488
NM_001384732.1(CPLANE1):c.3240C>T (p.Ala1080=) rs28514632 0.01487
NM_004525.3(LRP2):c.2726A>G (p.His909Arg) rs36082715 0.01487
NM_004959.5(NR5A1):c.1353G>A (p.Leu451=) rs79833327 0.01487
NM_003482.4(KMT2D):c.11610G>A (p.Met3870Ile) rs73302195 0.01486
NM_138295.5(PKD1L1):c.6113C>G (p.Thr2038Ser) rs79131011 0.01486
NM_207346.3(TSEN54):c.624-9G>A rs138719855 0.01485
NM_001368809.2(AMPD2):c.1104G>A (p.Ser368=) rs34030799 0.01484
NM_001379081.2(FREM1):c.2358A>G (p.Lys786=) rs61745880 0.01483
NM_022836.4(DCLRE1B):c.1384G>A (p.Asp462Asn) rs28381079 0.01483
NM_018026.4(PACS1):c.2061T>A (p.Ser687=) rs572697 0.01482
NM_020533.3(MCOLN1):c.777+99G>A rs12462124 0.01482
NM_000090.4(COL3A1):c.1770T>C (p.Pro590=) rs80302667 0.01481
NM_000124.4(ERCC6):c.528A>G (p.Arg176=) rs4253027 0.01480
NM_001330078.2(NRXN1):c.*1692T>C rs77838429 0.01480
NM_017617.5(NOTCH1):c.*6G>A rs73668310 0.01480
NM_021926.4(ALX4):c.*3596C>G rs11037919 0.01480
NM_001365999.1(SZT2):c.2929+9G>A rs114863461 0.01479
NM_002693.3(POLG):c.128A>G (p.Gln43Arg) rs28567406 0.01478
NM_015681.6(B9D1):c.580T>C (p.Leu194=) rs7212549 0.01478
NM_147127.5(EVC2):c.3040C>G (p.Leu1014Val) rs75829835 0.01478
NM_001106.4(ACVR2B):c.*8141C>A rs114378912 0.01477
NM_020533.3(MCOLN1):c.1360-13G>A rs2305888 0.01477
NM_183065.4(TMEM107):c.87+22A>C rs78413898 0.01477
NM_000044.6(AR):c.2450-44G>A rs5031002 0.01476
NM_000308.4(CTSA):c.444+14C>T rs6032580 0.01474
NM_000093.5(COL5A1):c.5068-7T>C rs113256540 0.01472
NM_080916.3(DGUOK):c.509A>G (p.Gln170Arg) rs74874677 0.01472
NM_000059.4(BRCA2):c.*397C>A rs11571835 0.01470
NM_001083614.2(EARS2):c.*1498A>G rs113477773 0.01470
NM_138959.3(VANGL1):c.*3336G>A rs61732170 0.01470
NM_018238.4(AGK):c.*320G>A rs3735282 0.01469
NM_000136.3(FANCC):c.843+4C>T rs4647506 0.01468
NM_001083614.2(EARS2):c.*1388C>T rs11864511 0.01468
NM_004260.4(RECQL4):c.274= (p.Ser92=) rs2721190 0.01468
NM_004239.4(TRIP11):c.4727G>A (p.Arg1576His) rs35007347 0.01467
NM_005529.7(HSPG2):c.7509C>T (p.Cys2503=) rs62642515 0.01467
NM_182760.4(SUMF1):c.*805C>T rs79031951 0.01466
NM_000108.5(DLD):c.*855C>T rs116055514 0.01464
NM_005902.4(SMAD3):c.870C>T (p.Ile290=) rs117185005 0.01464
NM_018136.5(ASPM):c.3912C>A (p.Ile1304=) rs56912014 0.01464
NM_000168.5(GLI3):c.*3392G>T rs115519476 0.01463
NM_003640.5(ELP1):c.3876T>G (p.Thr1292=) rs61749202 0.01463
NM_013275.6(ANKRD11):c.2039C>G (p.Thr680Ser) rs145694621 0.01463
NM_207361.6(FREM2):c.954C>G (p.Pro318=) rs9576597 0.01462
NM_000020.3(ACVRL1):c.330G>A (p.Ser110=) rs77341011 0.01461
NM_025136.4(OPA3):c.*6275T>C rs74689727 0.01461
NM_005529.7(HSPG2):c.7035C>T (p.Ile2345=) rs2229484 0.01460
NM_032444.4(SLX4):c.-104A>G rs73505426 0.01460
NM_025074.7(FRAS1):c.308A>T (p.Glu103Val) rs78711748 0.01459
NM_001084.5(PLOD3):c.1977C>T (p.Asp659=) rs11546151 0.01458
NM_018136.5(ASPM):c.2307A>G (p.Ala769=) rs35897746 0.01457
NM_000085.5(CLCNKB):c.1877G>A (p.Cys626Tyr) rs143663847 0.01456
NM_001374828.1(ARID1B):c.1927A>G (p.Ile643Val) rs17318151 0.01456
NM_052859.4(RFT1):c.64-14C>T rs78419624 0.01456
NM_004370.6(COL12A1):c.834T>G (p.Ala278=) rs16886258 0.01455
NM_018136.5(ASPM):c.1288A>G (p.Arg430Gly) rs6428388 0.01455
NM_018475.5(TMEM165):c.*505T>A rs73151843 0.01454
NM_025074.7(FRAS1):c.979C>T (p.Arg327Trp) rs61999335 0.01454
NM_022114.4(PRDM16):c.2940-17G>A rs41301967 0.01452
NM_018127.7(ELAC2):c.1389C>T (p.Tyr463=) rs77972324 0.01451
NM_001384732.1(CPLANE1):c.1125A>G (p.Pro375=) rs61745362 0.01450
NM_022552.5(DNMT3A):c.1140G>A (p.Ala380=) rs77345627 0.01450
NM_003640.5(ELP1):c.3492C>T (p.Asp1164=) rs79596285 0.01448
NM_005529.7(HSPG2):c.7532C>T (p.Thr2511Ile) rs62642518 0.01448
NM_014822.4(SEC24D):c.125T>C (p.Met42Thr) rs10029206 0.01448
NM_000685.5(AGTR1):c.*135C>T rs1799870 0.01447
NM_003738.5(PTCH2):c.2127C>T (p.Asp709=) rs11573587 0.01447
NM_004380.3(CREBBP):c.2974G>A (p.Val992Ile) rs61731383 0.01447
NM_016360.4(TACO1):c.433G>A (p.Gly145Ser) rs35252424 0.01444
NM_001001433.3(STX16):c.*1899C>T rs138678203 0.01442
NM_000404.4(GLB1):c.1824G>C (p.Leu608=) rs77226678 0.01441
NM_001276345.2(TNNT2):c.163+12G>A rs45580032 0.01441
NM_014140.4(SMARCAL1):c.127G>A (p.Ala43Thr) rs2066524 0.01441
NM_001374353.1(GLI2):c.963C>G (p.Pro321=) rs149894186 0.01440
NM_003630.3(PEX3):c.245A>G (p.Gln82Arg) rs35220041 0.01440
NM_004813.4(PEX16):c.*158A>C rs79435202 0.01440
NM_016955.4(SEPSECS):c.*3848C>T rs111294195 0.01439
NM_000256.3(MYBPC3):c.2601C>T (p.Ile867=) rs11570097 0.01438
NM_000264.5(PTCH1):c.*1535T>C rs112320257 0.01438
NM_001386795.1(DTNA):c.1903+8G>A rs111817603 0.01438
NM_000512.5(GALNS):c.*224C>G rs111233947 0.01437
NM_001330078.2(NRXN1):c.4068G>A (p.Thr1356=) rs74714098 0.01437
NM_207034.3(EDN3):c.*1012C>T rs11570358 0.01437
NC_000007.14:g.156769402G>A rs73741533 0.01435
NM_001114753.3(ENG):c.1794T>C (p.Gly598=) rs41358947 0.01435
NM_001354604.2(MITF):c.355-1135G>A rs77588960 0.01433
NM_017866.6(TMEM70):c.379A>G (p.Thr127Ala) rs61734099 0.01433
NM_173660.5(DOK7):c.1351C>T (p.Arg451Trp) rs16844470 0.01433
NM_003119.4(SPG7):c.2188A>G (p.Asn730Asp) rs35749032 0.01431
NM_014780.5(CUL7):c.1202G>A (p.Arg401Gln) rs73733791 0.01429
NM_004370.6(COL12A1):c.1551A>G (p.Thr517=) rs34767467 0.01428
NM_024312.5(GNPTAB):c.1482G>A (p.Gln494=) rs11111008 0.01428
NM_001384732.1(CPLANE1):c.1737G>A (p.Ala579=) rs13356183 0.01427
NM_004370.6(COL12A1):c.2007G>A (p.Ala669=) rs77790445 0.01425
NM_133459.4(CCBE1):c.*2758C>T rs114107592 0.01425
NM_006767.4(LZTR1):c.2253C>T (p.Phe751=) rs143758478 0.01424
NM_173660.5(DOK7):c.1317C>T (p.Ser439=) rs16844467 0.01424
NM_003924.4(PHOX2B):c.*1381C>T rs59260453 0.01423
NM_024312.5(GNPTAB):c.204-15G>T rs10860787 0.01423
NM_000318.3(PEX2):c.550= (p.Cys184=) rs10087163 0.01422
NM_004370.6(COL12A1):c.2086T>C (p.Leu696=) rs116691242 0.01422
NM_001001433.3(STX16):c.569G>A (p.Arg190Gln) rs114786310 0.01421
NM_005236.3(ERCC4):c.33C>T (p.Ala11=) rs3136042 0.01420
NM_015631.6(TCTN3):c.925G>T (p.Ala309Ser) rs55859130 0.01420
NM_002860.4(ALDH18A1):c.1115C>A (p.Ser372Tyr) rs3765571 0.01418
NM_000264.5(PTCH1):c.*1545T>C rs113253600 0.01417
NM_153717.3(EVC):c.2279G>A (p.Arg760Gln) rs2279252 0.01416
NM_173660.5(DOK7):c.1143C>T (p.Pro381=) rs56769879 0.01415
NM_003172.4(SURF1):c.751+6T>C rs41296099 0.01414
NM_014141.6(CNTNAP2):c.*678G>C rs2717809 0.01414
NM_001369268.1(ACAN):c.3180C>T (p.Thr1060=) rs113229763 0.01413
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_012293.3(PXDN):c.1182T>C (p.Ser394=) rs76057922 0.01411
NM_024809.5(TCTN2):c.1612+12C>T rs117614122 0.01410
NM_000256.3(MYBPC3):c.1144C>T (p.Arg382Trp) rs11570076 0.01409
NM_001106.4(ACVR2B):c.*3748G>T rs2169551 0.01409
NM_005236.3(ERCC4):c.1884A>G (p.Glu628=) rs2020958 0.01408
NM_145068.4(TRPV3):c.1882G>A (p.Ala628Thr) rs75319568 0.01408
NM_000138.5(FBN1):c.3082+6A>G rs79321504 0.01406
NM_000208.3(INSR):c.*4794T>C rs10415841 0.01406
NM_001042492.3(NF1):c.8113+20G>A rs55747230 0.01406
NM_001106.4(ACVR2B):c.1344+7G>T rs9876823 0.01406
NM_004239.4(TRIP11):c.2651A>G (p.Asp884Gly) rs34967261 0.01405
NM_001110219.3(GJB6):c.-295-219G>A rs7333727 0.01403
NM_004239.4(TRIP11):c.-365C>G rs74071824 0.01403
NM_000719.7(CACNA1C):c.477+116590T>C rs113494472 0.01402
NM_004239.4(TRIP11):c.3306T>C (p.Phe1102=) rs34151071 0.01402
NM_020247.5(COQ8A):c.-10+8T>C rs145688619 0.01402
NM_000719.7(CACNA1C):c.213G>A (p.Ala71=) rs113869350 0.01399
NM_004525.3(LRP2):c.5702C>G (p.Ala1901Gly) rs61995913 0.01399
NM_000238.4(KCNH2):c.1809C>T (p.Gly603=) rs41314375 0.01398
NM_000368.5(TSC1):c.*1785A>G rs74362385 0.01398
NM_020533.3(MCOLN1):c.1200C>T (p.Gly400=) rs28541364 0.01398
NM_003072.5(SMARCA4):c.915G>A (p.Pro305=) rs149573400 0.01397
NM_004525.3(LRP2):c.6810G>A (p.Val2270=) rs2228170 0.01397
NM_025074.7(FRAS1):c.11717T>C (p.Ile3906Thr) rs61748814 0.01397
NM_000503.6(EYA1):c.*1222A>C rs117394899 0.01396
NM_012186.3(FOXE3):c.146G>C (p.Gly49Ala) rs566961335 0.01396
NM_000124.4(ERCC6):c.*2137A>G rs114723899 0.01395
NM_000900.5(MGP):c.*343G>A rs35112962 0.01395
NM_001104631.2(PDE4D):c.*2066T>C rs73758090 0.01394
NM_001271938.2(MEGF8):c.7737G>A (p.Thr2579=) rs78335246 0.01393
NM_005271.5(GLUD1):c.342T>C (p.His114=) rs142544510 0.01392
NM_005726.6(TSFM):c.754G>A (p.Val252Ile) rs114694283 0.01391
NM_203486.3(DLL3):c.1152G>A (p.Ala384=) rs115456333 0.01391
NM_000428.3(LTBP2):c.915G>A (p.Thr305=) rs60337900 0.01390
NM_000719.7(CACNA1C):c.371+230A>C rs112435887 0.01390
NM_014846.4(WASHC5):c.3225A>G (p.Pro1075=) rs34569226 0.01390
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_001384732.1(CPLANE1):c.8664-3A>T rs58401892 0.01389
NM_004560.4(ROR2):c.75G>A (p.Leu25=) rs148237260 0.01389
NM_025265.4(TSEN2):c.1350G>A (p.Leu450=) rs116627250 0.01389
NM_014780.5(CUL7):c.1027C>T (p.Pro343Ser) rs113845886 0.01387
NM_005996.4(TBX3):c.-417T>G rs36202980 0.01386
NM_001367624.2(ZNF469):c.10708G>A (p.Ala3570Thr) rs57052487 0.01385
NM_018062.4(FANCL):c.1077T>C (p.Cys359=) rs11539575 0.01385
NM_020779.4(WDR35):c.*1129C>T rs76845713 0.01385
NM_024596.5(MCPH1):c.1719C>T (p.Ser573=) rs35551093 0.01384
NM_030777.4(SLC2A10):c.*143G>A rs35691491 0.01384
NM_016042.4(EXOSC3):c.*197C>T rs117073203 0.01382
NM_018136.5(ASPM):c.2751C>T (p.Ala917=) rs33987824 0.01382
NM_000199.5(SGSH):c.1182G>T (p.Met394Ile) rs34297805 0.01381
NM_001854.4(COL11A1):c.2611-4C>T rs79505593 0.01381
NM_013352.4(DSE):c.1118+15G>A rs116330739 0.01381
NM_139057.4(ADAMTS17):c.*2227G>A rs8041553 0.01381
NM_000141.5(FGFR2):c.*1319A>G rs3135830 0.01380
NM_000719.7(CACNA1C):c.50-147C>T rs112230077 0.01380
NM_003722.5(TP63):c.859C>T (p.Leu287=) rs33979049 0.01380
NM_018006.5(TRMU):c.479C>T (p.Ala160Val) rs35338668 0.01380
NM_000047.3(ARSL):c.548G>A (p.Arg183His) rs34412194 0.01378
NM_000393.5(COL5A2):c.*1669G>A rs76151083 0.01378
NM_000168.6(GLI3):c.3774C>G (p.Leu1258=) rs35448119 0.01377
NM_001011658.4(TRAPPC2):c.*1963A>G rs147081718 0.01377
NM_133259.4(LRPPRC):c.*1371C>T rs111381413 0.01377
NM_000553.6(WRN):c.3384-3T>C rs3087424 0.01376
NM_004239.4(TRIP11):c.1527+6A>G rs17127844 0.01376
NM_002857.4(PEX19):c.879T>C (p.Gly293=) rs74125561 0.01375
NM_004153.4(ORC1):c.1115C>T (p.Ala372Val) rs3087476 0.01375
NM_001042492.3(NF1):c.168C>T (p.Ser56=) rs17881168 0.01374
NM_003923.3(FOXH1):c.450C>T (p.His150=) rs2721177 0.01374
NM_000168.6(GLI3):c.*1297G>A rs116029585 0.01373
NM_004168.4(SDHA):c.1776T>C (p.His592=) rs1126538 0.01372
NM_001024630.4(RUNX2):c.*1534T>C rs140371943 0.01371
NM_004304.5(ALK):c.952+16C>T rs112736234 0.01371
NM_005045.4(RELN):c.9903C>T (p.Tyr3301=) rs73714404 0.01371
NM_052989.3(IFT122):c.3265+7C>T rs9836202 0.01370
NM_001127671.2(LIFR):c.2066-74T>G rs113874922 0.01368
NM_006329.4(FBLN5):c.989+13G>A rs74071605 0.01368
NM_015272.5(RPGRIP1L):c.2959-15T>C rs11863101 0.01368
NM_000219.6(KCNE1):c.-50-288A>G rs2070358 0.01366
NM_004239.4(TRIP11):c.2931C>T (p.Thr977=) rs7152887 0.01366
NM_030777.4(SLC2A10):c.*280C>T rs6018009 0.01365
NM_002148.4(HOXD10):c.*47G>T rs114746583 0.01364
NM_003036.4(SKI):c.99C>G (p.Gly33=) rs200019352 0.01364
NM_003052.5(SLC34A1):c.389-5C>T rs189794265 0.01364
NM_001278689.2(EOGT):c.1170A>G (p.Lys390=) rs114914860 0.01363
NM_004565.3(PEX14):c.513C>A (p.Ala171=) rs35046754 0.01363
NM_022039.4(FBXW4):c.472G>C (p.Ala158Pro) rs111600818 0.01363
NM_030578.4(B9D2):c.215-16C>G rs3087453 0.01363
NM_030777.4(SLC2A10):c.*334A>G rs6018010 0.01363
NM_000208.4(INSR):c.*4218G>C rs10416396 0.01362
NM_014141.6(CNTNAP2):c.*1433A>G rs78484397 0.01362
NM_207346.3(TSEN54):c.1468C>T (p.Arg490Trp) rs144662042 0.01362
NM_003482.4(KMT2D):c.6807C>T (p.Ser2269=) rs73302197 0.01361
NM_006953.4(UPK3A):c.272A>T (p.Gln91Leu) rs6006979 0.01361
NM_000335.5(SCN5A):c.1302C>T (p.Phe434=) rs41313699 0.01360
NM_000393.5(COL5A2):c.*2062G>A rs77821675 0.01359
NM_001844.5(COL2A1):c.1266+7G>A rs41317915 0.01359
NM_000393.5(COL5A2):c.*1904C>T rs75096234 0.01358
NM_000393.5(COL5A2):c.*423C>T rs77413180 0.01358
NM_017780.4(CHD7):c.307T>A (p.Ser103Thr) rs41272435 0.01358
NM_203290.4(POLR1C):c.-15G>A rs2231757 0.01357
NM_004453.4(ETFDH):c.1690+15C>T rs11931339 0.01356
NM_000393.5(COL5A2):c.*1960A>G rs76482660 0.01355
NM_018718.3(CEP41):c.*3507C>T rs149385617 0.01355
NM_016277.5(RAB23):c.*2485A>G rs16888376 0.01354
NM_000112.4(SLC26A2):c.2220A>G (p.Ter740=) rs61732052 0.01353
NM_012293.3(PXDN):c.3593G>A (p.Arg1198Gln) rs6723697 0.01353
NM_002148.4(HOXD10):c.987G>C (p.Arg329=) rs33913965 0.01352
NM_001122630.2(CDKN1C):c.495G>C (p.Ala165=) rs533485167 0.01351
NM_020751.3(COG6):c.898C>T (p.His300Tyr) rs34555836 0.01351
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg) rs118203576 0.01347
NM_000208.4(INSR):c.2370G>A (p.Thr790=) rs16994210 0.01346
NM_024996.7(GFM1):c.476A>G (p.Asn159Ser) rs34297061 0.01346
NM_032444.4(SLX4):c.3868C>A (p.His1290Asn) rs112596894 0.01345
NM_001365276.2(TNXB):c.3191G>A (p.Arg1064His) rs61995676 0.01344
NM_005055.5(RAPSN):c.614G>A (p.Arg205Gln) rs34625105 0.01344
NM_020184.4(CNNM4):c.*1516C>T rs116742732 0.01343
NM_003001.5(SDHC):c.-32T>C rs115782155 0.01342
NM_139125.4(MASP1):c.1386G>A (p.Pro462=) rs35384947 0.01342
NM_001367624.2(ZNF469):c.3125G>A (p.Arg1042Gln) rs181077813 0.01341
NM_004415.4(DSP):c.4773G>A (p.Arg1591=) rs28763968 0.01341
NM_078470.6(COX15):c.1209T>C (p.Asn403=) rs34652235 0.01341
NM_019892.6(INPP5E):c.981C>T (p.Ala327=) rs35498378 0.01340
NM_001002755.4(NFU1):c.151G>T (p.Ala51Ser) rs76646410 0.01339
NM_020639.3(RIPK4):c.1425G>A (p.Leu475=) rs56092943 0.01339
NM_020964.3(EPG5):c.7557+15T>C rs59817706 0.01339
NM_145861.4(EDARADD):c.121-19C>T rs12064562 0.01338
NM_000325.6(PITX2):c.*471G>A rs75911264 0.01337
NM_004304.5(ALK):c.-5G>A rs56270786 0.01336
NM_006329.4(FBLN5):c.863-13C>T rs74071606 0.01336
NM_001271938.2(MEGF8):c.3433C>T (p.Leu1145=) rs115335139 0.01335
NM_006412.4(AGPAT2):c.*239G>A rs56310643 0.01334
NM_000088.4(COL1A1):c.298+7C>A rs41317345 0.01333
NM_001127671.2(LIFR):c.*6316C>T rs115572283 0.01333
NM_018006.5(TRMU):c.864C>T (p.Asp288=) rs61737827 0.01333
NM_000208.4(INSR):c.*3857C>T rs114405975 0.01332
NM_004239.4(TRIP11):c.*930C>T rs74071653 0.01332
NM_001106.4(ACVR2B):c.*7379G>A rs115907825 0.01331
NM_004456.5(EZH2):c.1017T>C (p.Phe339=) rs77051363 0.01331
NM_000138.5(FBN1):c.*1989C>T rs56194244 0.01330
NM_001015880.2(PAPSS2):c.28G>A (p.Glu10Lys) rs17173698 0.01330
NM_012293.3(PXDN):c.111G>C (p.Pro37=) rs140134102 0.01330
NM_030957.4(ADAMTS10):c.*449G>C rs555471852 0.01330
NM_000138.5(FBN1):c.*1368A>G rs77212138 0.01328
NM_017617.5(NOTCH1):c.2468-19G>A rs116515776 0.01328
NM_021830.5(TWNK):c.*204G>A rs61871507 0.01328
NM_001365276.2(TNXB):c.5679G>A (p.Thr1893=) rs115612382 0.01326
NM_004589.4(SCO1):c.297A>G (p.Ala99=) rs11538237 0.01326
NM_000352.6(ABCC8):c.4120-19C>T rs1800853 0.01325
NM_001134831.2(AHI1):c.1152-11T>G rs113317693 0.01324
NM_001360.3(DHCR7):c.627-29T>G rs74742701 0.01323
NM_004959.5(NR5A1):c.594G>A (p.Pro198=) rs142414614 0.01323
NM_020779.4(WDR35):c.*553G>T rs79153401 0.01323
NM_000089.4(COL1A2):c.*205A>G rs6955879 0.01322
NM_004239.4(TRIP11):c.2383G>C (p.Val795Leu) rs34699762 0.01322
NM_005529.7(HSPG2):c.8848G>A (p.Gly2950Arg) rs41266007 0.01322
NM_003850.3(SUCLA2):c.510A>G (p.Ala170=) rs35568795 0.01320
NM_004525.3(LRP2):c.3452C>T (p.Pro1151Leu) rs150552608 0.01319
NM_020639.3(RIPK4):c.117G>A (p.Val39=) rs147023104 0.01319
NM_001429.4(EP300):c.2131+17A>T rs113214815 0.01318
NM_003172.4(SURF1):c.167C>G (p.Ala56Gly) rs116779216 0.01318
NM_025074.7(FRAS1):c.5208T>C (p.Leu1736=) rs35608396 0.01318
NM_020312.4(COQ9):c.921+13C>T rs115677652 0.01317
NM_016277.5(RAB23):c.*811G>A rs16888378 0.01316
NM_000138.5(FBN1):c.3442C>G (p.Pro1148Ala) rs140598 0.01315
NM_000262.3(NAGA):c.*1103T>C rs117826003 0.01315
NM_001136193.2(FASTKD2):c.1254+9A>C rs10177169 0.01315
NM_007055.4(POLR3A):c.*1853C>T rs11002351 0.01315
NM_001040436.3(YARS2):c.*191T>C rs144235100 0.01314
NM_139057.4(ADAMTS17):c.*2079C>T rs75041141 0.01313
NM_000466.3(PEX1):c.1671-7T>C rs74519968 0.01312
NM_000257.4(MYH7):c.1767C>T (p.Asn589=) rs3729816 0.01311
NM_052854.4(CREB3L1):c.454G>A (p.Ala152Thr) rs199951144 0.01311
NM_001174147.2(LMX1B):c.*1995C>G rs74498940 0.01310
NM_000112.4(SLC26A2):c.*3466C>G rs6888879 0.01309
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly) rs11203289 0.01309
NM_015713.5(RRM2B):c.*1953A>G rs11987823 0.01309
NM_020320.5(RARS2):c.63A>G (p.Pro21=) rs7748563 0.01309
NM_012463.4(ATP6V0A2):c.1039-14T>C rs115569365 0.01308
NM_001077418.3(TMEM231):c.177G>C (p.Pro59=) rs78196225 0.01307
NM_023110.3(FGFR1):c.2314C>T (p.Pro772Ser) rs56234888 0.01307
NM_000263.4(NAGLU):c.764+19C>G rs77738617 0.01306
NM_000751.3(CHRND):c.*149A>G rs114315112 0.01306
NM_012293.3(PXDN):c.4293A>G (p.Lys1431=) rs61976956 0.01306
NM_001365276.2(TNXB):c.3419G>A (p.Gly1140Asp) rs149995364 0.01305
NM_001367624.2(ZNF469):c.2034C>T (p.Ala678=) rs58401704 0.01305
NM_000168.6(GLI3):c.3083G>T (p.Ser1028Ile) rs79049330 0.01304
NM_000047.3(ARSL):c.495T>C (p.His165=) rs35274634 0.01303
NM_000112.4(SLC26A2):c.*2612C>T rs28451300 0.01303
NM_000168.6(GLI3):c.3084C>T (p.Ser1028=) rs79703713 0.01303
NM_000393.5(COL5A2):c.*1379A>G rs114330868 0.01303
NM_004239.4(TRIP11):c.202-7T>A rs56034853 0.01303
NM_000942.5(PPIB):c.*21T>A rs2307248 0.01302
NM_001077446.4(TSEN34):c.*688T>A rs115025822 0.01302
NM_001202.6(BMP4):c.-146T>C rs73267467 0.01302
NM_024537.4(CARS2):c.1132C>T (p.Arg378Cys) rs79081036 0.01302
NM_015713.5(RRM2B):c.*2136G>A rs139212686 0.01300
NM_018006.5(TRMU):c.*124G>C rs116303153 0.01300
NM_007059.4(KPTN):c.558C>G (p.Pro186=) rs145347349 0.01299
NM_020964.3(EPG5):c.5954G>A (p.Arg1985Gln) rs34674177 0.01298
NM_153427.2(PITX2):c.-392G>T rs113778706 0.01298
NM_000020.3(ACVRL1):c.-46C>G rs190953189 0.01297
NM_001024630.4(RUNX2):c.*1084C>A rs6906876 0.01297
NM_005996.4(TBX3):c.2082A>G (p.Lys694=) rs34831817 0.01295
NM_017777.4(MKS1):c.1273+11G>A rs16942826 0.01295
NM_030777.4(SLC2A10):c.-27C>T rs149481442 0.01295
NM_001361.5(DHODH):c.*748C>T rs117655998 0.01294
NM_001365951.3(KIF1B):c.5432C>T (p.Pro1811Leu) rs61999305 0.01293
NM_003072.5(SMARCA4):c.1419+8C>T rs115492175 0.01292
NM_014780.5(CUL7):c.3096C>T (p.Asp1032=) rs138276478 0.01292
NM_017617.5(NOTCH1):c.1100-16G>C rs146815871 0.01292
NM_001384732.1(CPLANE1):c.4310T>C (p.Ile1437Thr) rs6859950 0.01291
NM_000719.7(CACNA1C):c.4527-151C>T rs77773628 0.01290
NM_000082.4(ERCC8):c.363T>C (p.Asp121=) rs4647088 0.01289
NM_000525.4(KCNJ11):c.1143G>A (p.Lys381=) rs8175351 0.01289
NM_002334.4(LRP4):c.431-12G>A rs139371503 0.01289
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709 0.01289
NM_001203.3(BMPR1B):c.-117T>C rs75697273 0.01288
NM_003738.5(PTCH2):c.687C>T (p.Ala229=) rs11573576 0.01288
NM_004153.4(ORC1):c.540A>C (p.Gln180His) rs3087482 0.01286
NM_001122681.2(SH3BP2):c.*3609C>T rs139161010 0.01285
NM_003738.5(PTCH2):c.2355C>T (p.Tyr785=) rs11573588 0.01285
NM_014336.5(AIPL1):c.286G>A (p.Val96Ile) rs62619924 0.01285
NM_032520.5(GNPTG):c.233+7G>T rs9926432 0.01285
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_007373.4(SHOC2):c.457C>T (p.Leu153=) rs34081996 0.01281
NM_002296.4(LBR):c.843A>G (p.Val281=) rs61749339 0.01280
NM_020247.5(COQ8A):c.63G>A (p.Ala21=) rs11549709 0.01280
NM_153281.2(HYAL1):c.-414G>A rs587609136 0.01280
NM_000093.5(COL5A1):c.2799+4T>C rs75815945 0.01279
NM_000168.6(GLI3):c.1029-7C>T rs78280303 0.01279
NM_001626.6(AKT2):c.1176-17C>T rs3730264 0.01279
NM_182760.4(SUMF1):c.59T>G (p.Leu20Arg) rs79985808 0.01279
NM_001127649.3(PEX26):c.*464A>G rs141229564 0.01278
NM_004525.3(LRP2):c.7253A>G (p.Glu2418Gly) rs61995915 0.01278
NM_018718.3(CEP41):c.*3765G>T rs138768326 0.01276
NM_000077.5(CDKN2A):c.-25C>T rs144481587 0.01273
NM_002470.4(MYH3):c.699C>T (p.Asn233=) rs16943604 0.01272
NM_004553.4(NDUFS6):c.-12C>T rs145747389 0.01272
NM_002834.5(PTPN11):c.*801C>T rs138246203 0.01271
NM_014780.5(CUL7):c.1846A>G (p.Ser616Gly) rs7774330 0.01270
NM_000352.6(ABCC8):c.3612C>T (p.Ala1204=) rs149861153 0.01269
NM_005032.7(PLS3):c.321T>A (p.Gly107=) rs140121121 0.01269
NM_012233.3(RAB3GAP1):c.1041A>G (p.Arg347=) rs77972211 0.01269
NM_001173467.3(SP7):c.993C>T (p.Cys331=) rs116856142 0.01263
NM_001330078.2(NRXN1):c.*1539C>G rs112108943 0.01263
NM_000287.4(PEX6):c.1028G>A (p.Arg343Gln) rs111282915 0.01262
NM_002470.4(MYH3):c.349-7C>T rs114366800 0.01261
NM_139057.4(ADAMTS17):c.*2012C>T rs190592619 0.01261
NM_004064.5(CDKN1B):c.*181T>C rs4251696 0.01260
NM_005027.4(PIK3R2):c.2080C>T (p.Leu694=) rs116321373 0.01259
NM_181458.4(PAX3):c.1420+104G>A rs142988099 0.01258
NM_001365999.1(SZT2):c.348C>A (p.Ile116=) rs41312024 0.01256
NM_004544.4(NDUFA10):c.*396C>G rs73103629 0.01256
NM_001329943.3(KIAA0586):c.4560G>A (p.Pro1520=) rs45568037 0.01255
NM_004370.6(COL12A1):c.8650-19T>A rs79461746 0.01255
NM_133459.4(CCBE1):c.*3036C>G rs75031007 0.01254
NM_019892.6(INPP5E):c.636C>A (p.Val212=) rs34071122 0.01252
NM_004560.4(ROR2):c.*229C>T rs75004227 0.01251
NM_022356.4(P3H1):c.978C>T (p.Thr326=) rs74070022 0.01251
NM_025074.7(FRAS1):c.8417C>T (p.Thr2806Met) rs114190041 0.01251
NM_024312.5(GNPTAB):c.*1240T>C rs146119768 0.01250
NM_025074.7(FRAS1):c.10230C>T (p.Tyr3410=) rs34034599 0.01250
NM_004560.4(ROR2):c.2727G>A (p.Val909=) rs56091954 0.01249
NM_025074.7(FRAS1):c.9955C>G (p.Gln3319Glu) rs78619145 0.01249
NM_001130144.3(LTBP3):c.804C>T (p.Pro268=) rs201590889 0.01247
NM_001127649.3(PEX26):c.*10C>T rs117472525 0.01244
NM_002470.4(MYH3):c.3009G>A (p.Ala1003=) rs61735353 0.01244
NM_004004.6(GJB2):c.-216T>G rs574815423 0.01243
NM_005529.7(HSPG2):c.5998-7A>G rs148336692 0.01243
NM_001371623.1(TCOF1):c.1229C>T (p.Ser410Leu) rs114326915 0.01242
NM_002860.4(ALDH18A1):c.*611G>A rs41291562 0.01242
NM_000264.5(PTCH1):c.*2070C>G rs142942544 0.01241
NM_001128225.3(SLC39A13):c.119G>A (p.Arg40Gln) rs35741412 0.01241
NM_025074.7(FRAS1):c.9759A>G (p.Pro3253=) rs61741742 0.01240
NM_006218.4(PIK3CA):c.3075C>T (p.Thr1025=) rs17849079 0.01239
NM_000214.3(JAG1):c.436G>A (p.Val146Ile) rs6040067 0.01238
NM_018993.4(RIN2):c.85G>A (p.Gly29Arg) rs78648341 0.01238
NM_021926.4(ALX4):c.*1901A>G rs78007447 0.01238
NM_005045.4(RELN):c.6671+8T>C rs362758 0.01237
NM_005751.5(AKAP9):c.1301G>A (p.Arg434Gln) rs60031334 0.01237
NM_153704.6(TMEM67):c.2397T>C (p.Asp799=) rs117195541 0.01237
NM_001379081.2(FREM1):c.5814T>A (p.Val1938=) rs114909107 0.01236
NM_018026.4(PACS1):c.1199+16T>C rs61890329 0.01236
NM_024312.5(GNPTAB):c.-145G>A rs544455347 0.01236
NM_001164508.2(NEB):c.20766C>T (p.Asp6922=) rs34555492 0.01234
NM_024996.7(GFM1):c.1601+9G>C rs77186707 0.01234
NM_000108.5(DLD):c.675T>C (p.Gly225=) rs73726765 0.01233
NM_002335.4(LRP5):c.4788C>T (p.Thr1596=) rs113442867 0.01233
NM_152383.5(DIS3L2):c.1488T>C (p.His496=) rs72998118 0.01233
NM_020458.4(TTC7A):c.1641+17C>T rs78064634 0.01232
NM_173660.5(DOK7):c.653-19A>C rs191981243 0.01231
NM_001044385.3(TMEM237):c.-12G>A rs113186360 0.01229
NM_000540.3(RYR1):c.10747G>C (p.Glu3583Gln) rs55876273 0.01228
NM_139125.4(MASP1):c.1277G>A (p.Gly426Glu) rs28945068 0.01228
NM_000208.4(INSR):c.*2340A>G rs78987925 0.01226
NM_002334.4(LRP4):c.*1445A>G rs75558883 0.01226
NM_002755.4(MAP2K1):c.711G>A (p.Gly237=) rs17586159 0.01226
NM_020297.4(ABCC9):c.3321C>T (p.Ile1107=) rs35404804 0.01226
NM_001005498.4(RHBDF2):c.1638+12T>C rs114994065 0.01225
NM_001005498.4(RHBDF2):c.1837C>T (p.Leu613=) rs77626078 0.01225
NM_006031.6(PCNT):c.4962+10G>A rs114474454 0.01225
NM_006147.4(IRF6):c.*204C>T rs77906982 0.01225
NM_025136.4(OPA3):c.*1340C>T rs12104391 0.01224
NM_000046.5(ARSB):c.1446A>G (p.Glu482=) rs35714924 0.01223
NM_014762.4(DHCR24):c.180C>T (p.Leu60=) rs79857573 0.01223
NM_145054.5(CFAP52):c.1692A>C (p.Gly564=) rs36018005 0.01222
NM_000393.5(COL5A2):c.*515C>T rs113311693 0.01221
NM_001353214.3(DYM):c.193+9G>A rs111744206 0.01221
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=) rs9590940 0.01220
NM_001113378.2(FANCI):c.3846C>T (p.Ser1282=) rs34557339 0.01219
NM_004239.4(TRIP11):c.*610A>C rs111671120 0.01218
NM_000393.5(COL5A2):c.*46C>A rs112739705 0.01217
NM_001367624.2(ZNF469):c.8121G>A (p.Ala2707=) rs116696830 0.01217
NM_005996.4(TBX3):c.*1340G>A rs61933121 0.01217
NM_024757.5(EHMT1):c.1162G>A (p.Ala388Thr) rs11137198 0.01217
NM_030957.4(ADAMTS10):c.1350G>T (p.Gly450=) rs75734496 0.01217
NM_000208.4(INSR):c.*4602C>T rs10413914 0.01216
NM_001271938.2(MEGF8):c.4842C>T (p.Thr1614=) rs35468447 0.01216
NM_002693.3(POLG):c.3482+44G>A rs3176228 0.01216
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly) rs1800124 0.01216
NM_024809.5(TCTN2):c.*67C>T rs112214860 0.01216
NM_005045.4(RELN):c.8086G>A (p.Ala2696Thr) rs115640958 0.01215
NM_147127.5(EVC2):c.1384A>G (p.Thr462Ala) rs73063795 0.01215
NM_032634.4(PIGO):c.1404A>C (p.Ala468=) rs35287398 0.01214
NM_001844.5(COL2A1):c.2484G>C (p.Gly828=) rs1793940 0.01213
NM_006147.4(IRF6):c.*1511C>T rs114756064 0.01213
NM_139057.4(ADAMTS17):c.*1944G>A rs116429760 0.01213
NM_000020.3(ACVRL1):c.1378-216C>T rs111710113 0.01212
NM_173208.3(TGIF1):c.-460G>C rs142599245 0.01212
NM_000071.3(CBS):c.*81G>A rs115406358 0.01211
NM_025265.4(TSEN2):c.-220G>A rs182837891 0.01211
NM_000093.5(COL5A1):c.925-44C>T rs41302966 0.01210
NM_004544.4(NDUFA10):c.*1217A>G rs116403651 0.01210
NM_001329943.3(KIAA0586):c.2060-3T>C rs17094553 0.01209
NM_020806.5(GPHN):c.1734T>C (p.Gly578=) rs77465022 0.01208
NM_024312.5(GNPTAB):c.*143G>A rs76267316 0.01208
NM_024312.5(GNPTAB):c.*612T>C rs57261919 0.01208
NM_024312.5(GNPTAB):c.2611G>A (p.Gly871Ser) rs56212569 0.01207
NM_000020.3(ACVRL1):c.*935G>C rs116740271 0.01206
NM_000368.5(TSC1):c.-129A>T rs116951280 0.01206
NM_001371623.1(TCOF1):c.4053G>A (p.Ser1351=) rs114169102 0.01206
NM_018451.5(CPAP):c.287A>G (p.His96Arg) rs61739263 0.01206
NM_020779.4(WDR35):c.1601G>A (p.Arg534Gln) rs113345685 0.01206
NM_005996.4(TBX3):c.777C>T (p.Ile259=) rs34627348 0.01205
NM_015340.4(LARS2):c.2493G>T (p.Glu831Asp) rs9827689 0.01205
NM_020745.4(AARS2):c.861C>A (p.Asp287Glu) rs115815965 0.01205
NM_144508.5(KNL1):c.3810G>A (p.Ala1270=) rs34758606 0.01205
NM_000238.4(KCNH2):c.1332G>A (p.Glu444=) rs9770044 0.01204
NM_001130144.3(LTBP3):c.3012T>C (p.Ile1004=) rs151139557 0.01204
NM_002693.3(POLG):c.2254C>T (p.Leu752=) rs41564016 0.01204
NM_003098.3(SNTA1):c.1350C>T (p.Phe450=) rs116747979 0.01203
NM_001003722.2(GLE1):c.1000G>A (p.Glu334Lys) rs138310419 0.01201
NM_170784.3(MKKS):c.1462G>A (p.Ala488Thr) rs61734546 0.01201
NM_001024630.4(RUNX2):c.*1762G>C rs77663988 0.01200
NM_000393.5(COL5A2):c.403-16T>A rs117085226 0.01199
NM_000393.5(COL5A2):c.98-12T>G rs117917418 0.01199
NM_017617.5(NOTCH1):c.5679C>T (p.Gly1893=) rs2229973 0.01198
NM_133459.4(CCBE1):c.837C>T (p.Pro279=) rs61745250 0.01198
NM_006329.4(FBLN5):c.*326G>A rs79375113 0.01197
NM_006329.4(FBLN5):c.*329T>C rs115237925 0.01197
NM_001005498.4(RHBDF2):c.*198G>A rs59252239 0.01195
NM_022168.4(IFIH1):c.2767A>G (p.Ile923Val) rs35667974 0.01195
NM_025074.7(FRAS1):c.10494C>T (p.Thr3498=) rs149604281 0.01195
NM_000208.4(INSR):c.*2519G>A rs114982195 0.01193
NM_058216.3(RAD51C):c.90G>A (p.Ala30=) rs115414895 0.01193
NM_001276345.2(TNNT2):c.42-20G>A rs45561443 0.01192
NM_004525.3(LRP2):c.13250G>A (p.Gly4417Asp) rs41268685 0.01191
NM_001330078.2(NRXN1):c.*2511G>C rs148938313 0.01190
NM_013275.6(ANKRD11):c.372G>A (p.Thr124=) rs34016116 0.01190
NM_020436.5(SALL4):c.408T>C (p.Asn136=) rs76870996 0.01190
NM_025074.7(FRAS1):c.1769T>C (p.Met590Thr) rs35030041 0.01189
NM_152564.5(VPS13B):c.10155G>A (p.Glu3385=) rs115369860 0.01189
NM_002272.4(KRT4):c.*133C>T rs78282727 0.01188
NM_003036.4(SKI):c.294C>T (p.Thr98=) rs115746142 0.01188
NM_003244.4(TGIF1):c.16+1632C>T rs114378990 0.01187
NM_012463.4(ATP6V0A2):c.*2646A>G rs77292614 0.01186
NM_181486.4(TBX5):c.*40A>G rs10850326 0.01186
NM_198525.3(KIF7):c.2481C>T (p.Asn827=) rs35837280 0.01186
NM_145068.4(TRPV3):c.2278+10C>T rs112791047 0.01185
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr) rs41313691 0.01184
NM_020297.4(ABCC9):c.789C>T (p.Cys263=) rs58386780 0.01183
NM_001367561.1(DOCK7):c.2471T>C (p.Ile824Thr) rs35400360 0.01182
NM_002693.3(POLG):c.3643+48A>G rs2307454 0.01182
NM_020529.3(NFKBIA):c.*421G>A rs2273650 0.01181
NM_001358530.2(MOCS1):c.*1136A>C rs60326448 0.01180
NM_002693.3(POLG):c.3644-99C>T rs3176241 0.01180
NM_000135.4(FANCA):c.1627-32T>C rs17226337 0.01179
NM_005529.7(HSPG2):c.5997+5G>C rs59720663 0.01179
NM_006494.4(ERF):c.1244C>T (p.Ala415Val) rs139842507 0.01177
NM_005045.4(RELN):c.3839G>A (p.Gly1280Glu) rs55689103 0.01176
NM_000325.6(PITX2):c.618T>G (p.Ser206=) rs35946364 0.01175
NM_000368.5(TSC1):c.*2418G>A rs114415181 0.01175
NM_001358530.2(MOCS1):c.*1002C>T rs115706925 0.01175
NM_004560.4(ROR2):c.1642C>T (p.Pro548Ser) rs35764413 0.01175
NM_144966.5(FREM1):c.*1465G>A rs78207703 0.01175
NM_000719.7(CACNA1C):c.1390+104C>T rs143490559 0.01174
NM_020247.5(COQ8A):c.*133G>A rs149820067 0.01173
NM_001368894.2(PAX6):c.*842G>A rs115045926 0.01172
NM_001371623.1(TCOF1):c.1133C>T (p.Ala378Val) rs75181211 0.01172
NM_000193.4(SHH):c.630C>T (p.Gly210=) rs9333634 0.01171
NM_000335.5(SCN5A):c.*159C>T rs41313019 0.01171
NM_002465.4(MYBPC1):c.*45C>T rs73390504 0.01171
NM_004260.4(RECQL4):c.300C>T (p.Gly100=) rs34496005 0.01171
NM_000082.4(ERCC8):c.*237T>C rs4647153 0.01170
NM_000093.5(COL5A1):c.5190C>T (p.Phe1730=) rs61729481 0.01170
NM_001203.3(BMPR1B):c.*3618G>A rs76804339 0.01169
NM_003119.4(SPG7):c.881G>A (p.Arg294His) rs115661328 0.01169
NM_000124.4(ERCC6):c.3177T>C (p.Ser1059=) rs4253207 0.01168
NM_001368894.2(PAX6):c.369G>A (p.Glu123=) rs114384476 0.01168
NM_003244.4(TGIF1):c.489G>A (p.Pro163=) rs2229334 0.01168
NM_198525.3(KIF7):c.1895C>T (p.Pro632Leu) rs115857753 0.01168
NM_016955.4(SEPSECS):c.*681A>C rs76926200 0.01167
NM_003070.5(SMARCA2):c.4590C>T (p.Ser1530=) rs77070978 0.01166
NM_012463.4(ATP6V0A2):c.2549A>G (p.Asn850Ser) rs75279884 0.01166
NM_152383.5(DIS3L2):c.426C>T (p.Pro142=) rs73001172 0.01166
NM_025136.4(OPA3):c.*2469G>A rs115566341 0.01165
NM_145068.4(TRPV3):c.*2729A>G rs118043532 0.01165
NM_052989.3(IFT122):c.2154C>T (p.His718=) rs116819033 0.01164
NM_001083614.2(EARS2):c.*2294T>C rs8046938 0.01163
NM_002386.4(MC1R):c.318G>A (p.Leu106=) rs3212364 0.01163
NM_004370.6(COL12A1):c.6848G>A (p.Gly2283Glu) rs77094372 0.01163
NM_004484.4(GPC3):c.204G>A (p.Lys68=) rs61754632 0.01163
NM_024596.5(MCPH1):c.*502T>C rs116253794 0.01163
NM_153717.3(EVC):c.1464+8A>G rs116236414 0.01163
NM_001379286.1(ZNF423):c.3361G>A (p.Ala1121Thr) rs147898137 0.01162
NM_017617.5(NOTCH1):c.2664C>T (p.His888=) rs61751548 0.01162
NM_017890.5(VPS13B):c.4247G>A (p.Arg1416Gln) rs75933366 0.01162
NM_020639.3(RIPK4):c.7G>A (p.Gly3Ser) rs199825512 0.01162
NM_152594.3(SPRED1):c.*256C>T rs145373657 0.01162
NM_001614.5(ACTG1):c.177G>A (p.Gln59=) rs11549220 0.01161
NM_004415.4(DSP):c.3963G>A (p.Gln1321=) rs61731476 0.01161
NM_153717.3(EVC):c.2373G>A (p.Gln791=) rs73795089 0.01161
NM_152419.3(HGSNAT):c.1727-9C>G rs76750342 0.01160
NM_000512.5(GALNS):c.1413C>T (p.Val471=) rs73251084 0.01159
NM_001104631.2(PDE4D):c.456-12C>T rs114278541 0.01159
NM_004260.4(RECQL4):c.3127= (p.Leu1043=) rs4925828 0.01159
NM_024665.7(TBL1XR1):c.1416+14A>G rs144060569 0.01159
NM_153717.3(EVC):c.2363G>A (p.Arg788His) rs73795088 0.01159
NM_000503.6(EYA1):c.1699-3C>T rs117149407 0.01158
NM_003722.5(TP63):c.1652+14A>C rs150685395 0.01158
NM_022725.4(FANCF):c.959C>T (p.Pro320Leu) rs45451294 0.01158
NM_012431.3(SEMA3E):c.900T>C (p.Asn300=) rs28505908 0.01156
NM_006129.5(BMP1):c.2450T>C (p.Val817Ala) rs80019749 0.01155
NM_007255.3(B4GALT7):c.297G>T (p.Val99=) rs114036939 0.01155
NM_000197.2(HSD17B3):c.91G>A (p.Val31Ile) rs2066480 0.01154
NM_001374353.1(GLI2):c.1710G>A (p.Thr570=) rs61732852 0.01154
NM_005908.4(MANBA):c.2351C>G (p.Pro784Arg) rs116340501 0.01154
NM_001367624.2(ZNF469):c.2574G>C (p.Pro858=) rs74384633 0.01153
NM_001083961.2(WDR62):c.2521-13G>C rs79646208 0.01151
NM_133259.4(LRPPRC):c.2562A>G (p.Val854=) rs4494798 0.01150
NM_024312.5(GNPTAB):c.1114-17T>C rs112075452 0.01149
NM_000528.4(MAN2B1):c.1935C>T (p.Asn645=) rs34853569 0.01148
NM_000789.4(ACE):c.*586C>A rs74979666 0.01148
NM_001367624.2(ZNF469):c.6032G>A (p.Gly2011Asp) rs79155191 0.01148
NM_005751.5(AKAP9):c.747A>G (p.Glu249=) rs78515732 0.01148
NM_012463.4(ATP6V0A2):c.1606-12G>A rs112415338 0.01148
NM_018006.5(TRMU):c.*210G>C rs141551983 0.01148
NM_001048166.1(STIL):c.2017A>G (p.Ser673Gly) rs140448154 0.01146
NM_005360.5(MAF):c.611G>T (p.Gly204Val) rs867401075 0.01145
NM_000044.6(AR):c.1886-60G>A rs146283342 0.01144
NM_001042492.3(NF1):c.3974+38T>G rs9894862 0.01144
NM_018451.5(CENPJ):c.*623A>G rs115136790 0.01144
NM_018699.4(PRDM5):c.491A>T (p.Lys164Ile) rs146268537 0.01143
NM_025136.4(OPA3):c.*1760C>T rs75401979 0.01143
NM_002968.3(SALL1):c.2178G>A (p.Arg726=) rs144019351 0.01142
NM_153704.6(TMEM67):c.781G>A (p.Asp261Asn) rs35793208 0.01141
NM_001128178.3(NPHP1):c.689C>T (p.Ala230Val) rs113450177 0.01140
NM_001854.4(COL11A1):c.904A>G (p.Ile302Val) rs75824519 0.01140
NM_003482.4(KMT2D):c.8047-15C>T rs202244933 0.01140
NM_000203.5(IDUA):c.1174C>T (p.Leu392=) rs201682298 0.01139
NM_005045.4(RELN):c.9714C>T (p.His3238=) rs78218774 0.01139
NM_000071.3(CBS):c.304A>C (p.Lys102Gln) rs34040148 0.01138
NM_015338.6(ASXL1):c.2513A>G (p.Lys838Arg) rs35632616 0.01138
NM_003482.4(KMT2D):c.5976G>A (p.Glu1992=) rs77794669 0.01137
NM_198173.3(GRHL3):c.1439C>A (p.Pro480His) rs142369311 0.01136
NM_015294.6(TRIM37):c.861-6C>T rs145324030 0.01135
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=) rs11574895 0.01135
NM_019892.6(INPP5E):c.531C>A (p.Ala177=) rs58206296 0.01135
NM_000368.5(TSC1):c.*4057G>A rs17149898 0.01133
NM_001083614.2(EARS2):c.*715G>A rs74014930 0.01133
NM_015294.6(TRIM37):c.1264T>C (p.Leu422=) rs74586224 0.01133
NM_000314.8(PTEN):c.*1565C>A rs34140758 0.01132
NM_004370.6(COL12A1):c.6198A>C (p.Pro2066=) rs34619869 0.01132
NM_001711.6(BGN):c.257A>G (p.Lys86Arg) rs146073993 0.01131
NM_001367624.2(ZNF469):c.7764G>A (p.Pro2588=) rs117149938 0.01130
NM_004544.4(NDUFA10):c.*2133A>G rs6736791 0.01130
NM_020779.4(WDR35):c.3019C>T (p.Arg1007Cys) rs56395266 0.01130
NM_001101.5(ACTB):c.1023C>T (p.Ile341=) rs58704474 0.01128
NM_001101.5(ACTB):c.363+16C>T rs73332405 0.01128
NM_001143979.2(NDE1):c.-164C>T rs114855401 0.01128
NM_002381.5(MATN3):c.908C>T (p.Thr303Met) rs77245812 0.01128
NM_000489.6(ATRX):c.288A>G (p.Lys96=) rs45574238 0.01127
NM_002618.4(PEX13):c.*1652G>A rs72877535 0.01126
NM_001143979.2(NDE1):c.-152C>T rs142755362 0.01125
NM_005359.6(SMAD4):c.*2122A>G rs149424787 0.01125
NM_018668.5(VPS33B):c.-8C>T rs11542639 0.01125
NM_000900.5(MGP):c.*615A>G rs34181533 0.01124
NM_004782.4(SNAP29):c.-5G>A rs139884576 0.01122
NM_004782.4(SNAP29):c.-8C>G rs186825747 0.01122
NM_020639.3(RIPK4):c.1311C>T (p.Ser437=) rs56149248 0.01122
NM_000789.4(ACE):c.731A>G (p.Tyr244Cys) rs3730025 0.01121
NM_001308093.3(GATA4):c.1141G>A (p.Val381Met) rs114868912 0.01121
NM_002386.4(MC1R):c.880G>C (p.Asp294His) rs1805009 0.01121
NM_004380.3(CREBBP):c.6621A>G (p.Gln2207=) rs55960450 0.01121
NM_005006.7(NDUFS1):c.1371G>A (p.Ser457=) rs2230892 0.01121
NM_005529.7(HSPG2):c.9790A>G (p.Ile3264Val) rs139500146 0.01121
NM_181458.4(PAX3):c.1420+220C>T rs45624434 0.01121
NM_000090.4(COL3A1):c.3525+19del rs138061246 0.01120
NM_004782.4(SNAP29):c.*2872G>A rs111581119 0.01120
NM_001329943.3(KIAA0586):c.3719T>C (p.Leu1240Ser) rs190271845 0.01118
NM_001367561.1(DOCK7):c.1460A>G (p.Lys487Arg) rs72913293 0.01118
NM_006623.4(PHGDH):c.792+6T>G rs146953046 0.01118
NM_006918.5(SC5D):c.*3345C>T rs79862582 0.01118
NM_015294.6(TRIM37):c.2512G>A (p.Val838Ile) rs7222388 0.01118
NM_153281.2(HYAL1):c.-271G>A rs115085570 0.01118
NM_133459.4(CCBE1):c.*1697G>C rs59131196 0.01117
NM_004333.6(BRAF):c.-19C>T rs71645935 0.01115
NM_005327.4(HADH):c.-65G>A rs28703310 0.01115
NM_016343.4(CENPF):c.3244C>T (p.His1082Tyr) rs61732031 0.01115
NM_000088.4(COL1A1):c.2175C>T (p.Gly725=) rs35017779 0.01114
NM_000218.3(KCNQ1):c.*264T>C rs45579540 0.01114
NM_000781.3(CYP11A1):c.939C>T (p.Phe313=) rs4986873 0.01114
NM_001379081.2(FREM1):c.1791T>C (p.Tyr597=) rs115032700 0.01114
NM_004168.4(SDHA):c.822C>T (p.Gly274=) rs34771391 0.01114
NM_014704.4(CEP104):c.681G>A (p.Lys227=) rs61746709 0.01114
NM_025074.7(FRAS1):c.1416C>T (p.Cys472=) rs35690113 0.01114
NM_025136.4(OPA3):c.*4794C>T rs114917731 0.01114
NM_000478.6(ALPL):c.1542G>T (p.Ala514=) rs3200256 0.01113
NM_004239.4(TRIP11):c.3118A>G (p.Ile1040Val) rs34805848 0.01111
NM_001367624.2(ZNF469):c.2407G>T (p.Ala803Ser) rs113484918 0.01110
NM_003119.4(SPG7):c.2295C>T (p.Asp765=) rs61747712 0.01110
NM_016343.4(CENPF):c.5635C>T (p.Arg1879Cys) rs61732022 0.01110
NM_022095.4(ZNF335):c.3354C>T (p.Leu1118=) rs35156034 0.01110
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) rs5352 0.01109
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_004959.5(NR5A1):c.516C>T (p.Ala172=) rs113506523 0.01105
NM_001365276.2(TNXB):c.9672G>A (p.Leu3224=) rs61740331 0.01104
NM_001042545.2(LTBP4):c.1125G>A (p.Arg375=) rs41354044 0.01103
NM_001614.5(ACTG1):c.124-14G>A rs115307446 0.01103
NM_020247.5(COQ8A):c.1053C>T (p.Gly351=) rs55958233 0.01103
NM_022356.4(P3H1):c.1233G>A (p.Arg411=) rs61746653 0.01103
NM_153704.6(TMEM67):c.*852C>T rs114214029 0.01103
NM_014795.4(ZEB2):c.930C>T (p.Tyr310=) rs6711223 0.01102
NM_018055.5(NODAL):c.*479C>T rs80138796 0.01102
NM_004239.4(TRIP11):c.3714G>A (p.Glu1238=) rs34919898 0.01101
NM_018136.5(ASPM):c.2805T>C (p.Ser935=) rs113161395 0.01101
NM_176787.5(PIGN):c.167C>T (p.Ala56Val) rs61755362 0.01101
NM_005529.7(HSPG2):c.1999-13C>T rs77828146 0.01100
NM_018055.5(NODAL):c.*886G>A rs58468830 0.01100
NM_018055.5(NODAL):c.*404T>C rs77232076 0.01099
NM_032043.3(BRIP1):c.*172G>C rs111898257 0.01099
NM_001360.3(DHCR7):c.570C>T (p.Ala190=) rs74909468 0.01097
NM_001379200.1(TBX1):c.102G>T (p.Gly34=) rs72646952 0.01097
NM_018055.5(NODAL):c.*62A>T rs76889088 0.01097
NM_021926.4(ALX4):c.*922T>G rs185632337 0.01097
NM_001040436.3(YARS2):c.*162A>G rs11052215 0.01096
NM_001127649.3(PEX26):c.457C>G (p.Leu153Val) rs12484657 0.01096
NM_001365951.3(KIF1B):c.4798G>A (p.Val1600Met) rs77172218 0.01096
NM_006121.4(KRT1):c.1506T>C (p.Ser502=) rs34154891 0.01096
NM_021926.4(ALX4):c.*923C>T rs181642223 0.01096
NM_001127649.3(PEX26):c.*1778C>T rs79447039 0.01095
NM_004782.4(SNAP29):c.*2791T>C rs187911143 0.01095
NM_020320.5(RARS2):c.606C>T (p.Leu202=) rs75794097 0.01095
NM_001127649.3(PEX26):c.*1957G>A rs11913772 0.01094
NM_006412.4(AGPAT2):c.702C>T (p.Ser234=) rs116951119 0.01094
NM_017780.4(CHD7):c.4534-13T>G rs114996731 0.01094
NM_000219.6(KCNE1):c.*268C>T rs41314807 0.01093
NM_001351132.2(PEX5):c.1718+13A>G rs116873137 0.01093
NM_004456.5(EZH2):c.1731G>A (p.Pro577=) rs41277437 0.01093
NM_020964.3(EPG5):c.1766A>G (p.Gln589Arg) rs61734402 0.01093
NM_152383.5(DIS3L2):c.265-15C>A rs114804860 0.01092
NM_000264.5(PTCH1):c.2199A>G (p.Ser733=) rs2227970 0.01091
NM_002880.4(RAF1):c.-281C>G rs61761285 0.01090
NM_020937.4(FANCM):c.1964A>G (p.Asn655Ser) rs61753893 0.01090
NM_025074.7(FRAS1):c.3951G>A (p.Leu1317=) rs76107832 0.01090
NM_032634.4(PIGO):c.423C>T (p.Gly141=) rs116248521 0.01090
NM_000264.5(PTCH1):c.3606C>T (p.Pro1202=) rs138240178 0.01089
NM_001122681.2(SH3BP2):c.*4834G>A rs147679025 0.01089
NM_001122681.2(SH3BP2):c.801C>T (p.Cys267=) rs114926004 0.01089
NM_001330078.2(NRXN1):c.*2878G>A rs146778534 0.01088
NM_004333.6(BRAF):c.78G>T (p.Glu26Asp) rs371877084 0.01088
NM_004380.3(CREBBP):c.3128C>T (p.Ser1043Leu) rs61731376 0.01088
NM_007055.4(POLR3A):c.*1695G>A rs61152426 0.01087
NM_001999.4(FBN2):c.*1132A>G rs77373296 0.01086
NM_004782.4(SNAP29):c.*2783C>T rs142566638 0.01086
NM_006121.4(KRT1):c.741T>C (p.Ser247=) rs56895471 0.01086
NM_012463.4(ATP6V0A2):c.*3654A>G rs77670478 0.01086
NM_020745.4(AARS2):c.*343G>A rs149050034 0.01086
NM_133459.4(CCBE1):c.*2833C>A rs73450357 0.01086
NM_020745.4(AARS2):c.*1719T>C rs79454687 0.01085
NM_014391.3(ANKRD1):c.346-15_346-14insA rs60700562 0.01084
NM_000135.4(FANCA):c.2504+161T>C rs17233050 0.01083
NM_001329943.3(KIAA0586):c.2553+11G>A rs78511804 0.01083
NM_000314.8(PTEN):c.*1955T>A rs41284072 0.01082
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) rs28936670 0.01082
NM_000318.3(PEX2):c.*1601T>A rs116949534 0.01081
NM_004153.4(ORC1):c.1406G>A (p.Cys469Tyr) rs3087483 0.01081
NM_004544.4(NDUFA10):c.*1878C>T rs80067639 0.01081
NM_007254.4(PNKP):c.586T>A (p.Tyr196Asn) rs3739186 0.01081
NM_012463.4(ATP6V0A2):c.*1731C>T rs114514797 0.01081
NM_021926.4(ALX4):c.*1227G>A rs76501131 0.01081
NM_000218.3(KCNQ1):c.477+9C>T rs28730664 0.01080
NM_012463.4(ATP6V0A2):c.*2329G>A rs113118376 0.01080
NM_001134831.2(AHI1):c.804A>C (p.Ser268=) rs35528530 0.01078
NM_015335.5(MED13L):c.6068-8C>T rs61936939 0.01078
NM_015713.5(RRM2B):c.*3555T>C rs29000293 0.01078
NM_139057.4(ADAMTS17):c.*1706G>A rs117744474 0.01078
NM_020745.4(AARS2):c.1196A>G (p.Asn399Ser) rs113433939 0.01077
NM_020937.4(FANCM):c.624A>G (p.Ile208Met) rs45547534 0.01077
NM_139057.4(ADAMTS17):c.*2578G>A rs183671964 0.01077
NM_001083614.2(EARS2):c.*755C>T rs11647557 0.01076
NM_012233.3(RAB3GAP1):c.*995T>C rs116237324 0.01076
NM_000512.5(GALNS):c.1278G>T (p.Gly426=) rs76651187 0.01075
NM_001042492.3(NF1):c.7755C>T (p.Ser2585=) rs17881980 0.01075
NM_014141.6(CNTNAP2):c.1854C>T (p.Gly618=) rs61732849 0.01075
NM_018714.3(COG1):c.58G>C (p.Ala20Pro) rs142719529 0.01075
NM_000719.7(CACNA1C):c.4624-47A>G rs114898435 0.01074
NM_001106.4(ACVR2B):c.*87A>G rs78099173 0.01074
NM_015311.3(OBSL1):c.3752C>T (p.Pro1251Leu) rs145485683 0.01074
NM_001365951.3(KIF1B):c.*4267A>G rs77474900 0.01073
NM_015681.6(B9D1):c.181C>T (p.Arg61Trp) rs73980038 0.01073
NM_001080432.3(FTO):c.*2249A>T rs75681401 0.01070
NM_001134831.2(AHI1):c.1643G>A (p.Arg548His) rs35433555 0.01070
NM_004565.3(PEX14):c.768G>A (p.Val256=) rs36083022 0.01070
NM_025136.4(OPA3):c.*1836C>T rs74717111 0.01070
NM_173660.5(DOK7):c.782G>A (p.Arg261His) rs16844460 0.01070
NM_000719.7(CACNA1C):c.4726+156G>A rs114160767 0.01069
NM_001365951.3(KIF1B):c.*712G>A rs146717943 0.01069
NM_001365951.3(KIF1B):c.4086T>C (p.Asp1362=) rs116089798 0.01068
NM_025265.4(TSEN2):c.-199G>T rs41293381 0.01068
NM_004239.4(TRIP11):c.*246A>G rs111335604 0.01067
NM_139057.4(ADAMTS17):c.*2722G>A rs116467016 0.01067
NM_001276345.2(TNNT2):c.294+7G>A rs45490292 0.01066
NM_005045.4(RELN):c.1799C>T (p.Ser600Phe) rs78008536 0.01065
NM_002335.4(LRP5):c.3918G>A (p.Ala1306=) rs11574425 0.01064
NM_004525.3(LRP2):c.13134C>G (p.Pro4378=) rs73970129 0.01063
NM_000537.4(REN):c.492+3A>G rs5706 0.01062
NM_000685.5(AGTR1):c.*461C>A rs12721276 0.01062
NM_000431.4(MVK):c.831C>T (p.Arg277=) rs104895353 0.01061
NM_198173.3(GRHL3):c.686+13C>T rs41268749 0.01061
NM_001174147.2(LMX1B):c.*515A>G rs112375232 0.01060
NM_170665.4(ATP2A2):c.81A>G (p.Glu27=) rs3026434 0.01060
NM_000935.2(PLOD2):c.-212C>T rs564744346 0.01058
NM_005633.4(SOS1):c.1203-20T>C rs112906251 0.01058
NM_001303.4(COX10):c.*1079G>A rs116445114 0.01056
NM_020639.3(RIPK4):c.1119G>T (p.Gly373=) rs61744790 0.01056
NM_033159.4(HYAL1):c.384C>T (p.Ile128=) rs116097974 0.01056
NM_005431.2(XRCC2):c.40-10C>T rs3218472 0.01055
NM_021922.3(FANCE):c.-56C>T rs4713866 0.01055
NM_000528.4(MAN2B1):c.2436+17C>T rs148420017 0.01054
NM_000553.6(WRN):c.2631-17A>C rs3087433 0.01054
NM_001429.4(EP300):c.2019T>C (p.Pro673=) rs2230110 0.01054
NM_033159.4(HYAL1):c.270G>C (p.Glu90Asp) rs74342080 0.01054
NM_003119.4(SPG7):c.2280G>A (p.Pro760=) rs11559075 0.01053
NM_024809.5(TCTN2):c.*45G>A rs142969969 0.01053
NM_001174147.2(LMX1B):c.*280G>A rs111648919 0.01052
NM_007055.4(POLR3A):c.1566G>T (p.Leu522=) rs12255950 0.01052
NM_012293.3(PXDN):c.4321-16C>T rs113997519 0.01052
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=) rs140587 0.01051
NM_002272.4(KRT4):c.122G>A (p.Arg41Gln) rs36143766 0.01050
NM_002272.4(KRT4):c.678-3C>T rs73306189 0.01050
NM_024120.5(NDUFAF5):c.486T>C (p.His162=) rs2273317 0.01050
NM_001127671.2(LIFR):c.*1610T>G rs2731964 0.01049
NM_020639.3(RIPK4):c.*707G>A rs115461340 0.01049
NM_001330078.2(NRXN1):c.*1365A>G rs147121881 0.01048
NM_002471.4(MYH6):c.2946G>A (p.Glu982=) rs145274612 0.01048
NM_007215.4(POLG2):c.1247G>C (p.Gly416Ala) rs17850455 0.01048
NM_022725.4(FANCF):c.624G>T (p.Ala208=) rs7103674 0.01048
NM_001329943.3(KIAA0586):c.1230A>G (p.Gly410=) rs10135645 0.01047
NM_001354604.2(MITF):c.*2170A>G rs78240629 0.01047
NM_144508.5(KNL1):c.1493T>A (p.Ile498Asn) rs59648663 0.01046
NM_000036.3(AMPD1):c.1224+8G>A rs140176911 0.01045
NM_000208.4(INSR):c.1989G>A (p.Ala663=) rs36081066 0.01045
NM_004525.3(LRP2):c.10804G>A (p.Ala3602Thr) rs144081819 0.01045
NM_017866.6(TMEM70):c.580G>A (p.Val194Met) rs77410280 0.01045
NM_000428.3(LTBP2):c.4888+18G>A rs73296217 0.01044
NM_001365276.2(TNXB):c.4848G>A (p.Gly1616=) rs190967484 0.01043
NM_012233.3(RAB3GAP1):c.357A>G (p.Val119=) rs73959261 0.01043
NM_000719.7(CACNA1C):c.4527-67C>T rs114987339 0.01042
NM_001148.6(ANK2):c.3893+10T>C rs72556367 0.01042
NM_002272.4(KRT4):c.404C>T (p.Thr135Met) rs17119475 0.01042
NM_004260.4(RECQL4):c.161A>G (p.Gln54Arg) rs35198096 0.01041
NM_153427.3(PITX2):c.46+8C>G rs199896960 0.01041
NM_003630.3(PEX3):c.*205C>A rs78091135 0.01040
NM_005045.4(RELN):c.5284G>A (p.Val1762Ile) rs79499902 0.01040
NM_000027.4(AGA):c.622+13T>C rs75260482 0.01039
NM_003172.4(SURF1):c.543C>T (p.Phe181=) rs62637580 0.01036
NM_015335.5(MED13L):c.948G>A (p.Lys316=) rs61748072 0.01036
NM_002834.5(PTPN11):c.525+12G>C rs41304351 0.01035
NM_052989.3(IFT122):c.1943A>C (p.Glu648Ala) rs144397126 0.01035
NM_152383.5(DIS3L2):c.*113T>G rs116379923 0.01035
NM_182760.4(SUMF1):c.*917G>T rs116661242 0.01035
NM_003072.5(SMARCA4):c.1114T>C (p.Tyr372His) rs140192268 0.01034
NM_030632.3(ASXL3):c.1409A>C (p.His470Pro) rs80040227 0.01034
NM_139057.4(ADAMTS17):c.*989G>A rs57279107 0.01034
NM_001194998.2(CEP152):c.1577+6G>A rs78525896 0.01033
NM_000197.2(HSD17B3):c.-10G>C rs2066484 0.01032
NM_000501.4(ELN):c.427+8C>T rs55868272 0.01032
NM_001351132.2(PEX5):c.*960C>G rs78134587 0.01032
NM_001148.6(ANK2):c.11218C>A (p.Leu3740Ile) rs35530544 0.01031
NM_004525.3(LRP2):c.5293G>A (p.Val1765Met) rs116456291 0.01031
NM_024809.5(TCTN2):c.898C>T (p.Leu300=) rs77804131 0.01030
NM_003924.4(PHOX2B):c.*161G>A rs114290493 0.01029
NM_003924.4(PHOX2B):c.552C>T (p.Ser184=) rs17885216 0.01029
NM_032861.4(SERAC1):c.89T>C (p.Ile30Thr) rs34270473 0.01029
NM_000135.4(FANCA):c.3935-9G>A rs9282680 0.01028
NM_002485.5(NBN):c.*419C>T rs13312979 0.01028
NM_005908.4(MANBA):c.178-8A>G rs113584126 0.01028
NM_020975.6(RET):c.868-18G>A rs57098408 0.01028
NM_024809.5(TCTN2):c.2041T>C (p.Leu681=) rs112158562 0.01028
NM_152564.5(VPS13B):c.11044+13G>A rs116819080 0.01028
NM_000218.3(KCNQ1):c.1394-14C>T rs28730758 0.01027
NM_001365276.2(TNXB):c.6024A>G (p.Thr2008=) rs61744966 0.01027
NM_001844.5(COL2A1):c.1545C>A (p.Arg515=) rs41317925 0.01027
NM_025074.7(FRAS1):c.*2811T>A rs114574352 0.01027
NM_001370259.2(MEN1):c.*307T>G rs1804848 0.01026
NM_005236.3(ERCC4):c.2655G>A (p.Thr885=) rs16963255 0.01026
NM_000284.4(PDHA1):c.*1563C>G rs7883708 0.01025
NM_001365276.2(TNXB):c.8132T>C (p.Ile2711Thr) rs28361051 0.01025
NM_003482.4(KMT2D):c.7670C>T (p.Pro2557Leu) rs189888707 0.01025
NM_004380.3(CREBBP):c.6609A>G (p.Gln2203=) rs62636220 0.01025
NM_012186.3(FOXE3):c.423G>A (p.Lys141=) rs145081583 0.01025
NM_000318.3(PEX2):c.*1242A>G rs73691481 0.01024
NM_002968.3(SALL1):c.3872A>G (p.Asn1291Ser) rs74499562 0.01024
NM_198173.3(GRHL3):c.1368C>T (p.Pro456=) rs114678222 0.01024
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448 0.01022
NM_001174147.2(LMX1B):c.*1644C>G rs187256465 0.01022
NM_152564.5(VPS13B):c.3744A>G (p.Leu1248=) rs16897391 0.01022
NM_004525.3(LRP2):c.9033-8T>C rs140148483 0.01021
NM_000512.5(GALNS):c.1002+17C>T rs78494153 0.01020
NM_003849.4(SUCLG1):c.201+9A>G rs116492610 0.01020
NM_014423.4(AFF4):c.406A>C (p.Thr136Pro) rs34527550 0.01020
NM_000318.3(PEX2):c.*2306A>G rs59296540 0.01019
NM_000512.5(GALNS):c.-68C>T rs144789309 0.01019
NM_145068.4(TRPV3):c.2331T>C (p.Asn777=) rs74362949 0.01019
NM_000197.2(HSD17B3):c.-29A>G rs2066476 0.01018
NM_000318.3(PEX2):c.*2554G>A rs116215385 0.01018
NM_001042492.3(NF1):c.4578-39A>G rs8072417 0.01018
NM_003193.5(TBCE):c.998G>C (p.Ser333Thr) rs35579976 0.01018
NM_001369268.1(ACAN):c.4170C>G (p.Asp1390Glu) rs201822759 0.01017
NM_005529.7(HSPG2):c.*736C>T rs116354301 0.01017
NM_022095.4(ZNF335):c.1102+9T>C rs112458662 0.01017
NM_024312.5(GNPTAB):c.136C>A (p.Arg46=) rs78347057 0.01017
NM_198239.2(CCN6):c.78A>T (p.Pro26=) rs9487806 0.01017
NM_000942.5(PPIB):c.324C>T (p.Thr108=) rs2307247 0.01016
NM_001042492.3(NF1):c.1845+13A>T rs17885739 0.01016
NM_002272.4(KRT4):c.267T>C (p.Phe89=) rs372168510 0.01016
NM_022369.4(STRA6):c.*75C>A rs182529524 0.01016
NM_000262.3(NAGA):c.*1696C>T rs11703233 0.01015
NM_001365999.1(SZT2):c.5198G>A (p.Arg1733His) rs147797700 0.01015
NM_001371623.1(TCOF1):c.162A>G (p.Gln54=) rs73270831 0.01015
NM_018718.3(CEP41):c.*3783T>C rs117071818 0.01015
NM_001001433.3(STX16):c.*2543G>C rs75424783 0.01014
NM_020806.5(GPHN):c.963+10G>A rs41310850 0.01014
NM_000368.5(TSC1):c.*841C>T rs149902841 0.01013
NM_004544.4(NDUFA10):c.*3544C>T rs114944621 0.01013
NM_014244.5(ADAMTS2):c.3480C>A (p.Ala1160=) rs34437036 0.01013
NM_025074.7(FRAS1):c.7074C>T (p.Gly2358=) rs7660641 0.01013
NM_001371623.1(TCOF1):c.305-52A>G rs41287124 0.01012
NM_025074.7(FRAS1):c.6124C>T (p.Pro2042Ser) rs60539739 0.01012
NM_005445.4(SMC3):c.*158G>A rs183542538 0.01009
NM_016042.4(EXOSC3):c.*296T>C rs138197600 0.01009
NM_000393.5(COL5A2):c.1400C>T (p.Pro467Leu) rs115570272 0.01007
NC_000004.12:g.110632944_110632945insAA rs571056388 0.01006
NM_000512.5(GALNS):c.*3C>G rs77826920 0.01005
NM_005006.7(NDUFS1):c.*574T>G rs73065790 0.01005
NM_004260.4(RECQL4):c.2238G>A (p.Ala746=) rs35215952 0.01004
NM_014423.4(AFF4):c.2892A>G (p.Lys964=) rs34434281 0.01004
NM_020745.4(AARS2):c.1412G>A (p.Arg471Gln) rs34530313 0.01004
NM_001308093.3(GATA4):c.1026T>C (p.Pro342=) rs56206007 0.01003
NM_002335.4(LRP5):c.4574C>T (p.Ala1525Val) rs1127291 0.01003
NM_022336.4(EDAR):c.*1107C>T rs73952545 0.01003
NM_181458.4(PAX3):c.156C>G (p.Pro52=) rs28945092 0.01003
NM_000218.3(KCNQ1):c.*219G>A rs45477500 0.01002
NM_000900.5(MGP):c.*604A>G rs114512785 0.01002
NM_001079872.2(CUL4B):c.1324+15G>A rs143921252 0.01002
NM_207346.3(TSEN54):c.1328C>G (p.Ser443Cys) rs150169668 0.01002
NM_003072.5(SMARCA4):c.4635+12G>A rs34930626 0.01001
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp) rs41322046 0.01000
NM_004380.3(CREBBP):c.459G>A (p.Pro153=) rs56388626 0.01000
NM_017617.5(NOTCH1):c.6648G>A (p.Pro2216=) rs3812596 0.01000
NM_139125.4(MASP1):c.547+14A>G rs72549251 0.01000
NM_004525.3(LRP2):c.5085G>A (p.Ser1695=) rs145384264 0.00999
NM_015937.6(PIGT):c.1417G>A (p.Ala473Thr) rs36056071 0.00999
NM_000284.4(PDHA1):c.*1682T>C rs55744630 0.00998
NM_002890.3(RASA1):c.1777-15_1777-14insA rs202147617 0.00998
NM_032444.4(SLX4):c.4338C>T (p.Thr1446=) rs77718962 0.00998
NM_032043.3(BRIP1):c.*1820C>T rs114037902 0.00997
NM_001174147.2(LMX1B):c.*1604A>G rs146126278 0.00995
NM_004531.5(MOCS2):c.*2582A>C rs12518145 0.00995
NM_005529.7(HSPG2):c.5742C>T (p.His1914=) rs62642522 0.00995
NM_017837.4(PIGV):c.615C>T (p.Asn205=) rs34512715 0.00995
NM_022458.4(LMBR1):c.*15G>A rs78838110 0.00995
NM_032444.4(SLX4):c.5146T>A (p.Ser1716Thr) rs75182789 0.00995
NM_153717.3(EVC):c.385-16C>T rs113571700 0.00995
NM_139057.4(ADAMTS17):c.1875C>T (p.Ala625=) rs34558152 0.00994
NM_001371623.1(TCOF1):c.2245C>T (p.Pro749Ser) rs73270846 0.00993
NM_001367624.2(ZNF469):c.4926G>A (p.Ser1642=) rs117310292 0.00992
NM_001999.4(FBN2):c.2778C>T (p.Ala926=) rs28763948 0.00992
NM_006147.4(IRF6):c.*1265G>C rs149425923 0.00992
NM_017617.5(NOTCH1):c.1665G>A (p.Thr555=) rs148331061 0.00992
NM_213599.3(ANO5):c.1029C>T (p.Asp343=) rs78899595 0.00992
NM_000789.4(ACE):c.1119-8C>T rs114861086 0.00991
NM_001354604.2(MITF):c.1566G>A (p.Thr522=) rs36118030 0.00991
NM_006306.4(SMC1A):c.*2423G>A rs147324052 0.00991
NM_014244.5(ADAMTS2):c.*1819G>A rs115989271 0.00991
NM_002272.4(KRT4):c.288G>A (p.Lys96=) rs372013854 0.00989
NM_000046.5(ARSB):c.*2859T>C rs116826065 0.00988
NM_000208.4(INSR):c.1098T>C (p.Ser366=) rs2229435 0.00988
NM_001360.3(DHCR7):c.99-4G>A rs140748737 0.00988
NM_005199.5(CHRNG):c.951C>A (p.Ile317=) rs75369104 0.00988
NM_000112.4(SLC26A2):c.*394T>A rs140641532 0.00987
NM_025074.7(FRAS1):c.10278C>T (p.Ile3426=) rs34678339 0.00987
NM_152281.3(GORAB):c.657C>T (p.Tyr219=) rs76365864 0.00986
NM_000108.5(DLD):c.*648G>A rs57801571 0.00985
NM_000108.5(DLD):c.249T>C (p.Val83=) rs2228664 0.00985
NM_002148.4(HOXD10):c.*2T>C rs116807022 0.00985
NM_025074.7(FRAS1):c.8959-11A>G rs112232078 0.00985
NM_133259.4(LRPPRC):c.3595A>G (p.Asn1199Asp) rs113974315 0.00985
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_001386795.1(DTNA):c.1821G>A (p.Ala607=) rs9959365 0.00984
NM_004456.5(EZH2):c.485-7G>A rs112932272 0.00984
NM_000112.4(SLC26A2):c.*938T>C rs150188068 0.00983
NM_001360.3(DHCR7):c.25A>T (p.Ile9Phe) rs115595829 0.00983
NM_000147.5(FUCA1):c.327G>A (p.Gln109=) rs61996281 0.00982
NM_000112.4(SLC26A2):c.*4930C>T rs79521091 0.00981
NM_004273.5(CHST3):c.*2170T>G rs79099269 0.00981
NM_004333.6(BRAF):c.*387G>A rs114105685 0.00981
NM_052989.3(IFT122):c.1854C>T (p.Ser618=) rs146874343 0.00981
NM_001134831.2(AHI1):c.2961+9del rs756875846 0.00980
NM_003722.5(TP63):c.*1386T>C rs35785527 0.00979
NM_000052.7(ATP7A):c.327G>A (p.Lys109=) rs61747968 0.00978
NM_001002755.4(NFU1):c.411T>C (p.Ile137=) rs12474866 0.00978
NM_001291303.3(FAT4):c.10810A>C (p.Ile3604Leu) rs76491994 0.00978
NM_024809.5(TCTN2):c.599G>A (p.Arg200Gln) rs79251326 0.00978
NM_003413.4(ZIC3):c.162T>C (p.Ala54=) rs62637689 0.00977
NM_005529.7(HSPG2):c.5702-5G>A rs2290498 0.00977
NM_006907.4(PYCR1):c.*272G>A rs3744807 0.00977
NM_153717.3(EVC):c.2872G>A (p.Asp958Asn) rs35287723 0.00977
NM_003036.4(SKI):c.456C>T (p.Arg152=) rs149898447 0.00976
NM_000503.6(EYA1):c.*705G>T rs79700717 0.00975
NM_001040436.3(YARS2):c.1356A>G (p.Gln452=) rs148729348 0.00975
NM_005445.4(SMC3):c.1092-8T>G rs79912955 0.00975
NM_001271938.2(MEGF8):c.1902C>T (p.Cys634=) rs150535071 0.00974
NM_003070.5(SMARCA2):c.462G>A (p.Gly154=) rs61736900 0.00974
NM_032444.4(SLX4):c.999C>T (p.Ile333=) rs7198338 0.00974
NM_002618.4(PEX13):c.*1943G>A rs183689971 0.00973
NM_006031.6(PCNT):c.9015G>A (p.Thr3005=) rs79359463 0.00973
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser) rs61736966 0.00972
NM_001151.4(SLC25A4):c.681G>A (p.Val227=) rs34486484 0.00972
NM_001159773.2(CANT1):c.-153G>T rs531435158 0.00972
NM_182760.4(SUMF1):c.*189G>A rs116820538 0.00972
NM_182760.4(SUMF1):c.*92A>G rs150796088 0.00972
NM_025136.4(OPA3):c.*3222C>T rs73568980 0.00971
NM_058179.4(PSAT1):c.348G>A (p.Lys116=) rs41277897 0.00971
NM_213599.3(ANO5):c.604G>A (p.Glu202Lys) rs115750596 0.00971
NM_001374353.1(GLI2):c.4003A>G (p.Met1335Val) rs149140724 0.00970
NM_014141.6(CNTNAP2):c.1119G>A (p.Thr373=) rs73471053 0.00970
NM_000020.3(ACVRL1):c.1378-556C>T rs78740726 0.00969
NM_000222.3(KIT):c.67+4G>A rs72550820 0.00969
NM_001379286.1(ZNF423):c.711C>T (p.Arg237=) rs16947744 0.00969
NM_003098.3(SNTA1):c.828G>A (p.Lys276=) rs35938843 0.00969
NM_005982.4(SIX1):c.*1496C>T rs61993831 0.00969
NM_145020.5(CFAP53):c.939C>T (p.Leu313=) rs35308427 0.00969
NM_153717.3(EVC):c.2505G>A (p.Ser835=) rs115976359 0.00969
NM_032444.4(SLX4):c.1153C>A (p.Pro385Thr) rs115694169 0.00968
NM_032444.4(SLX4):c.2746G>T (p.Ala916Ser) rs79448721 0.00968
NM_015443.4(KANSL1):c.2109A>G (p.Leu703=) rs34101027 0.00967
NM_000479.5(AMH):c.974A>G (p.Gln325Arg) rs140765565 0.00966
NM_001374828.1(ARID1B):c.3828G>A (p.Glu1276=) rs61745451 0.00966
NM_018238.4(AGK):c.*1210A>T rs184938991 0.00966
NM_002485.5(NBN):c.1124+19C>T rs13312903 0.00965
NM_024996.7(GFM1):c.1083+6T>G rs142919829 0.00965
NM_000528.4(MAN2B1):c.2562C>G (p.Ala854=) rs10410289 0.00964
NM_001330078.2(NRXN1):c.4217-16A>C rs74520052 0.00964
NM_001374353.1(GLI2):c.4507G>A (p.Asp1503Asn) rs114814747 0.00964
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_000168.6(GLI3):c.*3262A>G rs73096902 0.00963
NM_000719.7(CACNA1C):c.5604A>G (p.Gln1868=) rs11062316 0.00963
NM_025074.7(FRAS1):c.518G>A (p.Arg173Gln) rs147332320 0.00963
NM_139057.4(ADAMTS17):c.*743G>A rs74036641 0.00963
NM_006147.4(IRF6):c.*353T>C rs79863693 0.00962
NM_000046.5(ARSB):c.*2654A>G rs147170505 0.00961
NM_001042545.2(LTBP4):c.2175C>T (p.Cys725=) rs141810975 0.00961
NM_006939.4(SOS2):c.2162-4C>A rs57179949 0.00961
NM_001083961.2(WDR62):c.1642+8C>T rs143309981 0.00960
NM_001953.5(TYMP):c.214+13G>A rs74624637 0.00960
NM_000020.3(ACVRL1):c.1131A>G (p.Ala377=) rs61734313 0.00959
NM_000020.3(ACVRL1):c.1246+19C>T rs185343653 0.00959
NM_000264.5(PTCH1):c.3845C>T (p.Pro1282Leu) rs2227968 0.00959
NM_000020.3(ACVRL1):c.1246+9C>T rs115378744 0.00958
NM_000057.4(BLM):c.419A>G (p.Glu140Gly) rs35886055 0.00958
NM_001015880.2(PAPSS2):c.841A>T (p.Met281Leu) rs45624631 0.00958
NM_025216.3(WNT10A):c.817C>A (p.Leu273Ile) rs111903177 0.00958
NM_025216.3(WNT10A):c.85C>T (p.Leu29=) rs115839019 0.00957
NM_001386795.1(DTNA):c.537G>T (p.Thr179=) rs11877640 0.00956
NM_001854.4(COL11A1):c.4965T>G (p.Ser1655=) rs74778421 0.00956
NM_001378964.1(CDON):c.9G>A (p.Pro3=) rs113593771 0.00955
NM_002485.5(NBN):c.797C>T (p.Pro266Leu) rs769420 0.00955
NM_004525.3(LRP2):c.1172-8G>A rs115371758 0.00955
NM_005219.5(DIAPH1):c.3765G>A (p.Glu1255=) rs35755269 0.00955
NM_001083614.2(EARS2):c.1412A>C (p.Lys471Thr) rs137973249 0.00954
NM_001148.6(ANK2):c.11790C>T (p.Ile3930=) rs45517840 0.00954
NM_001083961.2(WDR62):c.2975C>T (p.Ser992Leu) rs74518295 0.00953
NM_001346754.2(PIGW):c.1020C>T (p.Ala340=) rs74323480 0.00953
NM_005529.7(HSPG2):c.9540G>A (p.Ala3180=) rs62642506 0.00953
NM_018136.5(ASPM):c.7917A>G (p.Lys2639=) rs112647911 0.00953
NM_139057.4(ADAMTS17):c.*2352C>G rs138578029 0.00953
NM_207361.6(FREM2):c.6339C>T (p.Pro2113=) rs116383837 0.00953
NM_000404.4(GLB1):c.1306C>T (p.Leu436Phe) rs34421970 0.00952
NM_001018115.3(FANCD2):c.2148C>G (p.Thr716=) rs55856815 0.00952
NM_001080432.3(FTO):c.*1082G>A rs73625209 0.00952
NM_004525.3(LRP2):c.1167T>G (p.Asp389Glu) rs111704488 0.00952
NM_022114.4(PRDM16):c.783C>T (p.Tyr261=) rs61756439 0.00952
NM_000348.4(SRD5A2):c.*43G>A rs28383082 0.00951
NM_001367624.2(ZNF469):c.9004A>C (p.Met3002Leu) rs141776185 0.00951
NM_015294.6(TRIM37):c.*373A>G rs145973955 0.00951
NM_000208.4(INSR):c.909G>A (p.Gln303=) rs9282757 0.00950
NM_203486.3(DLL3):c.1674-10C>T rs116099821 0.00950
NM_005138.3(SCO2):c.776C>T (p.Ala259Val) rs8139305 0.00949
NM_018136.5(ASPM):c.7353G>A (p.Leu2451=) rs111487086 0.00949
NM_003098.3(SNTA1):c.555C>T (p.Val185=) rs34995247 0.00948
NM_000046.5(ARSB):c.1068A>T (p.Thr356=) rs16876029 0.00947
NM_004393.6(DAG1):c.2231G>C (p.Ser744Thr) rs114357468 0.00947
NM_020745.4(AARS2):c.749+14G>A rs74709196 0.00947
NM_133259.4(LRPPRC):c.*1343G>C rs75002669 0.00947
NM_000685.5(AGTR1):c.*93A>G rs5187 0.00946
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser) rs3739168 0.00946
NM_020964.3(EPG5):c.1271G>A (p.Ser424Asn) rs117817123 0.00946
NM_000286.3(PEX12):c.733T>A (p.Leu245Ile) rs12941376 0.00945
NM_002485.5(NBN):c.*1013G>A rs13312984 0.00945
NM_003738.5(PTCH2):c.90G>A (p.Leu30=) rs45573433 0.00945
NM_000108.5(DLD):c.777A>G (p.Lys259=) rs1065762 0.00944
NM_000147.5(FUCA1):c.1148C>T (p.Thr383Ile) rs114490852 0.00944
NM_001077446.4(TSEN34):c.*815G>A rs36620 0.00944
NM_005529.7(HSPG2):c.831C>T (p.Pro277=) rs41310388 0.00944
NM_005996.4(TBX3):c.1094A>G (p.His365Arg) rs141004177 0.00944
NM_021044.4(DHH):c.-18C>T rs112818602 0.00944
NM_001080432.3(FTO):c.1214C>T (p.Ala405Val) rs16952624 0.00943
NM_001999.4(FBN2):c.-262C>T rs540026322 0.00943
NM_170784.3(MKKS):c.-58T>C rs114068950 0.00943
NM_207361.6(FREM2):c.*5019A>T rs76274648 0.00943
NM_000353.3(TAT):c.*1276T>A rs75855289 0.00941
NM_005236.3(ERCC4):c.252C>T (p.Leu84=) rs3136056 0.00941
NM_133433.4(NIPBL):c.3121+11T>G rs457583 0.00941
NM_004415.4(DSP):c.6390T>C (p.Ala2130=) rs28763969 0.00940
NM_020964.3(EPG5):c.6516C>T (p.Tyr2172=) rs114665741 0.00940
NM_000108.5(DLD):c.*1300A>G rs77095705 0.00939
NM_001367624.2(ZNF469):c.1697C>T (p.Ala566Val) rs181785233 0.00939
NM_004525.3(LRP2):c.11346C>T (p.Asn3782=) rs7598640 0.00939
NM_021625.5(TRPV4):c.33G>T (p.Gly11=) rs56092423 0.00939
NM_002386.4(MC1R):c.586T>C (p.Phe196Leu) rs3212366 0.00938
NM_017617.5(NOTCH1):c.7515T>G (p.Pro2505=) rs34152221 0.00938
NM_002076.4(GNS):c.21C>G (p.Ala7=) rs61743823 0.00937
NM_001365999.1(SZT2):c.2578G>A (p.Glu860Lys) rs143992266 0.00936
NM_002334.4(LRP4):c.5010G>A (p.Val1670=) rs111426027 0.00936
NM_000280.4(PAX6):c.*2559G>A rs141344418 0.00935
NM_002465.4(MYBPC1):c.26-9C>T rs181619118 0.00935
NM_017668.3(NDE1):c.572C>T (p.Thr191Ile) rs113493697 0.00935
NM_022114.4(PRDM16):c.1071C>T (p.Arg357=) rs2483221 0.00935
NM_003036.4(SKI):c.1211+11G>A rs115186522 0.00934
NM_003482.4(KMT2D):c.5868-8C>T rs75783546 0.00934
NM_005529.7(HSPG2):c.*430G>A rs141025054 0.00933
NM_025074.7(FRAS1):c.11720G>T (p.Gly3907Val) rs61748815 0.00933
NM_001367624.2(ZNF469):c.2814G>A (p.Ala938=) rs140480823 0.00931
NM_001378964.1(CDON):c.*3628C>G rs140783947 0.00931
NM_002968.3(SALL1):c.2544A>G (p.Gln848=) rs45459896 0.00931
NM_012463.4(ATP6V0A2):c.777G>A (p.Arg259=) rs73420336 0.00931
NM_024596.5(MCPH1):c.2453-14C>T rs17077744 0.00931
NM_000165.5(GJA1):c.758C>T (p.Ala253Val) rs17653265 0.00930
NM_016464.5(TMEM138):c.-24G>A rs116455434 0.00930
NM_000027.4(AGA):c.1023A>G (p.Glu341=) rs113407270 0.00929
NM_001001433.3(STX16):c.*1863C>A rs141875151 0.00929
NM_002076.4(GNS):c.1598G>A (p.Arg533His) rs61743822 0.00929
NM_004260.4(RECQL4):c.1879-15C>A rs35126141 0.00929
NM_025215.6(PUS1):c.*208T>C rs148927836 0.00929
NM_000208.4(INSR):c.*3463A>G rs115358150 0.00928
NM_001308093.3(GATA4):c.1116A>G (p.Ser372=) rs112435835 0.00928
NM_014244.5(ADAMTS2):c.1803G>A (p.Ser601=) rs76754323 0.00928
NM_014822.4(SEC24D):c.653C>G (p.Ala218Gly) rs35392900 0.00928
NM_004360.5(CDH1):c.-71C>G rs34033771 0.00927
NM_021939.4(FKBP10):c.917+53G>T rs141387386 0.00927
NM_025074.7(FRAS1):c.10269G>T (p.Pro3423=) rs34806279 0.00927
NM_032444.4(SLX4):c.*555C>T rs146163310 0.00927
NM_130837.3(OPA1):c.*2408A>G rs73069788 0.00927
NM_001271938.2(MEGF8):c.6641+15G>A rs118098511 0.00926
NM_002474.3(MYH11):c.3858+507A>G rs140519946 0.00926
NM_019892.6(INPP5E):c.1387+19C>T rs114698406 0.00926
NM_020458.4(TTC7A):c.640T>C (p.Leu214=) rs57585816 0.00926
NM_004415.4(DSP):c.4609C>T (p.Arg1537Cys) rs28763967 0.00925
NM_004544.4(NDUFA10):c.194A>G (p.Asn65Ser) rs35715497 0.00925
NM_000203.5(IDUA):c.299+6C>T rs147498923 0.00924
NM_003860.4(BANF1):c.*128C>A rs144367403 0.00924
NM_014244.5(ADAMTS2):c.*1247C>T rs77506744 0.00924
NM_022369.4(STRA6):c.1416G>A (p.Ser472=) rs351241 0.00924
NM_000093.5(COL5A1):c.4699-6C>T rs113090154 0.00923
NM_000553.6(WRN):c.2732+19A>G rs77434316 0.00923
NM_015559.3(SETBP1):c.4129G>C (p.Val1377Leu) rs77518617 0.00922
NM_213599.3(ANO5):c.616A>G (p.Thr206Ala) rs78266558 0.00922
NM_000553.6(WRN):c.2241T>G (p.Leu747=) rs2230011 0.00921
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_005751.5(AKAP9):c.10840A>G (p.Met3614Val) rs34327395 0.00921
NM_032444.4(SLX4):c.4115G>A (p.Arg1372Gln) rs79174372 0.00921
NM_014423.4(AFF4):c.810G>A (p.Leu270=) rs114858484 0.00920
NM_000751.3(CHRND):c.243C>T (p.His81=) rs115841867 0.00919
NM_006306.4(SMC1A):c.*5016T>C rs17002602 0.00919
NM_025216.3(WNT10A):c.*431C>T rs77272502 0.00919
NM_000108.5(DLD):c.1422A>C (p.Gly474=) rs34453495 0.00918
NM_000789.4(ACE):c.2787C>T (p.Thr929=) rs4348 0.00917
NM_025132.4(WDR19):c.1607G>C (p.Ser536Thr) rs115348383 0.00917
NM_015338.6(ASXL1):c.3306G>T (p.Glu1102Asp) rs139115934 0.00916
NM_016955.4(SEPSECS):c.1120+12T>C rs4697552 0.00916
NM_020937.4(FANCM):c.5190G>A (p.Gln1730=) rs7142192 0.00916
NM_031296.3(RAB33B):c.-36C>T rs182647425 0.00916
NM_002181.4(IHH):c.819C>T (p.Pro273=) rs61747697 0.00915
NM_006796.3(AFG3L2):c.*109A>C rs114203162 0.00915
NM_022725.4(FANCF):c.*738T>G rs76674060 0.00915
NM_025074.7(FRAS1):c.10002G>A (p.Glu3334=) rs80346282 0.00915
NM_078470.6(COX15):c.548G>A (p.Arg183His) rs35483721 0.00915
NM_000090.4(COL3A1):c.80-16C>T rs28763875 0.00914
NM_020937.4(FANCM):c.3863A>G (p.Asn1288Ser) rs116519044 0.00914
NM_000199.5(SGSH):c.*201A>T rs139066649 0.00913
NM_004260.4(RECQL4):c.2636C>A (p.Pro879His) rs137975310 0.00913
NM_004565.3(PEX14):c.959G>A (p.Arg320Lys) rs12070353 0.00912
NM_001151.4(SLC25A4):c.567T>C (p.Ala189=) rs149101873 0.00911
NM_139057.4(ADAMTS17):c.*116T>C rs143850369 0.00911
NM_176787.5(PIGN):c.1488A>G (p.Ala496=) rs2298784 0.00911
NM_213599.3(ANO5):c.*1429A>G rs78143145 0.00911
NM_000199.5(SGSH):c.*415A>G rs141810727 0.00910
NM_000203.5(IDUA):c.235G>A (p.Ala79Thr) rs58037052 0.00910
NM_014141.6(CNTNAP2):c.834T>C (p.Ser278=) rs61732854 0.00910
NM_000181.4(GUSB):c.162C>T (p.Asn54=) rs74975849 0.00909
NM_002834.5(PTPN11):c.854-30T>C rs144391508 0.00909
NM_025074.7(FRAS1):c.4940C>T (p.Thr1647Ile) rs34271211 0.00909
NM_139125.4(MASP1):c.417T>C (p.Asp139=) rs72549252 0.00909
NM_000719.7(CACNA1C):c.771C>T (p.Val257=) rs112315742 0.00908
NM_001042492.3(NF1):c.2022C>T (p.Ser674=) rs2230851 0.00908
NM_001278689.2(EOGT):c.562A>T (p.Lys188Ter) rs116711473 0.00908
NM_004415.4(DSP):c.5498A>T (p.Glu1833Val) rs78652302 0.00908
NM_014822.4(SEC24D):c.1576C>T (p.Leu526Phe) rs141180741 0.00908
NM_152594.3(SPRED1):c.*3698T>G rs76527876 0.00908
NM_000089.3(COL1A2):c.-287C>T rs190926256 0.00907
NM_000165.5(GJA1):c.*243A>G rs139128953 0.00907
NM_005413.4(SIX3):c.525G>A (p.Gln175=) rs116680477 0.00907
NM_016042.4(EXOSC3):c.-12G>C rs115431773 0.00907
NM_000719.7(CACNA1C):c.5444+1087C>T rs138470879 0.00906
NM_001854.4(COL11A1):c.4140+10A>T rs187171126 0.00906
NM_004273.5(CHST3):c.1160G>A (p.Arg387His) rs145384892 0.00906
NM_004836.7(EIF2AK3):c.1756A>T (p.Ile586Leu) rs75385605 0.00906
NM_014140.4(SMARCAL1):c.423T>C (p.Tyr141=) rs35907255 0.00906
NM_021939.4(FKBP10):c.1256+14G>C rs202121419 0.00906
NM_207034.3(EDN3):c.*600A>G rs11570356 0.00906
NM_001793.6(CDH3):c.1285G>A (p.Val429Ile) rs34394404 0.00905
NM_021252.5(RAB18):c.*278A>T rs41282848 0.00905
NM_052989.3(IFT122):c.2682G>A (p.Ala894=) rs61741773 0.00905
NM_001203.3(BMPR1B):c.*2156C>T rs115505973 0.00904
NM_003098.3(SNTA1):c.317G>A (p.Arg106Gln) rs75025585 0.00904
NM_014244.5(ADAMTS2):c.1993G>A (p.Gly665Arg) rs35372714 0.00904
NM_147127.5(EVC2):c.1311A>G (p.Leu437=) rs77131452 0.00904
NM_000214.3(JAG1):c.2227+17C>T rs115449289 0.00903
NM_001386795.1(DTNA):c.933C>T (p.Ser311=) rs114170541 0.00902
NM_014244.5(ADAMTS2):c.*2301C>T rs115104288 0.00902
NM_007254.4(PNKP):c.1127-8C>T rs3739203 0.00901
NM_003098.3(SNTA1):c.*342C>T rs150740903 0.00900
NM_024426.6(WT1):c.*1209A>G rs5030329 0.00900
NM_024996.7(GFM1):c.127A>G (p.Asn43Asp) rs35942089 0.00900
NM_133459.4(CCBE1):c.*14C>T rs72958116 0.00900
NM_153490.3(KRT13):c.177T>C (p.Ser59=) rs142246675 0.00900
NM_004565.3(PEX14):c.213C>G (p.Gly71=) rs41274482 0.00899
NM_005529.7(HSPG2):c.10702G>A (p.Val3568Ile) rs115616224 0.00899
NM_024996.7(GFM1):c.1209C>T (p.Ala403=) rs149949638 0.00899
NM_004560.4(ROR2):c.-91G>A rs141262722 0.00898
NM_005529.7(HSPG2):c.13119C>T (p.Pro4373=) rs2229477 0.00898
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile) rs2229968 0.00898
NM_022114.4(PRDM16):c.3109+10G>A rs7549401 0.00898
NM_025265.4(TSEN2):c.108A>G (p.Glu36=) rs77258715 0.00898
NM_145068.4(TRPV3):c.224+8C>T rs113563330 0.00898
NM_001854.4(COL11A1):c.4606C>G (p.Pro1536Ala) rs139064549 0.00897
NM_005529.7(HSPG2):c.1167C>T (p.Asp389=) rs145101074 0.00897
NM_198525.3(KIF7):c.2271C>T (p.Ala757=) rs35451920 0.00897
NM_000027.4(AGA):c.313C>A (p.Leu105Ile) rs76491548 0.00896
NM_000135.4(FANCA):c.601C>T (p.Pro201Ser) rs144917960 0.00895
NM_001163435.3(TBCK):c.1898-20G>T rs45462491 0.00895
NM_004239.4(TRIP11):c.5651A>G (p.His1884Arg) rs74071672 0.00895
NM_001042545.2(LTBP4):c.1968C>T (p.Pro656=) rs140927310 0.00894
NM_001361.5(DHODH):c.573G>A (p.Ala191=) rs148523165 0.00894
NM_002541.4(OGDH):c.2784A>G (p.Thr928=) rs112309751 0.00894
NM_030662.4(MAP2K2):c.303+18G>A rs116988721 0.00894
NM_001127671.2(LIFR):c.*1484A>G rs75368466 0.00893
NM_001367624.2(ZNF469):c.4884G>A (p.Thr1628=) rs141666432 0.00893
NM_207361.6(FREM2):c.6036C>T (p.Phe2012=) rs115455037 0.00893
NM_001203.3(BMPR1B):c.*2453A>G rs143459680 0.00892
NM_004168.4(SDHA):c.549C>T (p.Gly183=) rs61733344 0.00892
NM_018136.5(ASPM):c.223G>A (p.Ala75Thr) rs61995747 0.00892
NM_000208.4(INSR):c.2718T>C (p.Ala906=) rs2229433 0.00891
NM_001003722.2(GLE1):c.*387C>G rs78624767 0.00891
NM_002693.3(POLG):c.1586-5del rs2307434 0.00891
NM_001374353.1(GLI2):c.-7G>A rs112131051 0.00890
NM_004304.5(ALK):c.645T>C (p.Leu215=) rs115392387 0.00889
NM_000020.3(ACVRL1):c.*1041G>T rs199949661 0.00887
NM_000264.5(PTCH1):c.1854C>T (p.Cys618=) rs62637628 0.00887
NM_001999.4(FBN2):c.1466-5C>T rs28763952 0.00887
NM_198525.3(KIF7):c.1189G>A (p.Ala397Thr) rs535621809 0.00887
NM_018082.6(POLR3B):c.*565G>A rs55715506 0.00886
NM_001346754.2(PIGW):c.705C>G (p.His235Gln) rs61755368 0.00885
NM_000264.5(PTCH1):c.*3341T>C rs138499623 0.00884
NM_139242.4(MTFMT):c.796C>T (p.Arg266Cys) rs35302908 0.00884
NM_001202.6(BMP4):c.370+28G>A rs72680532 0.00883
NM_016938.5(EFEMP2):c.*403C>G rs77540033 0.00883
NM_025132.4(WDR19):c.2096G>A (p.Arg699Gln) rs138529452 0.00883
NM_001367624.2(ZNF469):c.2370G>A (p.Leu790=) rs147859144 0.00882
NM_133433.4(NIPBL):c.3541A>C (p.Arg1181=) rs35748854 0.00882
NM_017780.4(CHD7):c.657C>T (p.Gly219=) rs113483301 0.00881
NM_030777.4(SLC2A10):c.*1100T>G rs6094450 0.00880
NM_001114753.3(ENG):c.1374A>G (p.Pro458=) rs34828244 0.00879
NM_013275.6(ANKRD11):c.6497T>G (p.Met2166Arg) rs74033733 0.00879
NM_021252.5(RAB18):c.*758A>T rs10508722 0.00879
NM_031296.3(RAB33B):c.*1077G>A rs115582784 0.00878
NM_000719.7(CACNA1C):c.3913-300T>C rs73243593 0.00877
NM_004260.4(RECQL4):c.1564C>T (p.Arg522Cys) rs35407712 0.00877
NM_020975.6(RET):c.375C>A (p.Val125=) rs1800859 0.00877
NM_022336.4(EDAR):c.736G>A (p.Val246Met) rs79798733 0.00877
NM_000393.5(COL5A2):c.2661+20G>A rs79623676 0.00876
NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn) rs79040751 0.00875
NM_021926.4(ALX4):c.*902G>A rs76229477 0.00875
NM_000466.3(PEX1):c.812A>G (p.Asn271Ser) rs138183109 0.00874
NM_001042545.2(LTBP4):c.2812+6C>T rs190107102 0.00874
NM_001365276.2(TNXB):c.9849G>A (p.Thr3283=) rs147118175 0.00874
NM_002010.3(FGF9):c.*996A>G rs17070748 0.00874
NM_020529.3(NFKBIA):c.243C>T (p.Ala81=) rs2233412 0.00874
NC_000023.11:g.101407933C>T rs3027584 0.00873
NC_000007.14:g.156791931A>G rs77295788 0.00872
NM_001394062.1(MACF1):c.13754G>A (p.Arg4585Gln) rs79306726 0.00872
NM_015335.5(MED13L):c.1009+12C>G rs113214439 0.00872
NM_207361.6(FREM2):c.4901C>T (p.Thr1634Met) rs74781600 0.00872
NC_000007.14:g.156791921T>G rs78890432 0.00871
NM_000219.6(KCNE1):c.-464G>A rs4817670 0.00871
NM_001024630.4(RUNX2):c.*278G>A rs142301498 0.00871
NM_020754.4(ARHGAP31):c.432-7A>G rs10049221 0.00871
NM_001127671.2(LIFR):c.*394C>A rs115958115 0.00870
NM_001271938.2(MEGF8):c.8426G>A (p.Arg2809Lys) rs11881304 0.00870
NM_001999.4(FBN2):c.7296G>T (p.Gln2432His) rs34600572 0.00870
NM_005529.7(HSPG2):c.5442G>A (p.Leu1814=) rs115087461 0.00870
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=) rs55980657 0.00869
NM_003722.5(TP63):c.*1620T>C rs34328757 0.00869
NM_030777.4(SLC2A10):c.1288+10G>A rs76315093 0.00869
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_001127671.2(LIFR):c.*546A>C rs3822427 0.00868
NM_012186.3(FOXE3):c.16G>A (p.Asp6Asn) rs765169217 0.00868
NM_000168.6(GLI3):c.1029-11C>T rs116195563 0.00867
NM_001365276.2(TNXB):c.8601C>T (p.Pro2867=) rs61740712 0.00867
NM_002834.5(PTPN11):c.854-32A>C rs187389813 0.00867
NM_004370.6(COL12A1):c.8237T>C (p.Val2746Ala) rs34369939 0.00867
NM_014918.5(CHSY1):c.114C>T (p.Gly38=) rs773533401 0.00867
NM_024426.6(WT1):c.*1098C>T rs5030327 0.00867
NM_000537.4(REN):c.9A>T (p.Gly3=) rs5704 0.00866
NM_001852.4(COL9A2):c.544A>G (p.Met182Val) rs113549021 0.00866
NM_001127671.2(LIFR):c.*1870G>A rs60287085 0.00865
NM_001371623.1(TCOF1):c.4007A>G (p.Lys1336Arg) rs55980697 0.00865
NM_018136.5(ASPM):c.8820+7C>G rs115045814 0.00865
NM_001024630.4(RUNX2):c.1531G>A (p.Gly511Ser) rs11498198 0.00864
NM_001276345.2(TNNT2):c.68-8A>G rs115805892 0.00864
NM_020937.4(FANCM):c.5656C>T (p.His1886Tyr) rs79343837 0.00864
NM_022356.4(P3H1):c.2055+70G>T rs115690038 0.00864
NM_000348.4(SRD5A2):c.*1273A>G rs28383086 0.00863
NM_001015880.2(PAPSS2):c.886G>A (p.Val296Met) rs45467596 0.00863
NM_001371623.1(TCOF1):c.4458G>A (p.Glu1486=) rs116268092 0.00863
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_006623.4(PHGDH):c.357-17T>C rs76447100 0.00863
NM_147127.5(EVC2):c.692A>G (p.Lys231Arg) rs114024753 0.00863
NM_152419.3(HGSNAT):c.*733G>T rs139144727 0.00863
NM_000203.5(IDUA):c.1582C>G (p.Pro528Ala) rs199722340 0.00862
NM_000348.4(SRD5A2):c.*224A>T rs28383083 0.00862
NM_001106.4(ACVR2B):c.*6173A>C rs76892072 0.00862
NM_000478.6(ALPL):c.1381G>A (p.Val461Ile) rs34810399 0.00860
NM_015335.5(MED13L):c.4744T>A (p.Ser1582Thr) rs150222863 0.00860
NM_025074.7(FRAS1):c.*708C>A rs111636328 0.00860
NM_052989.3(IFT122):c.2415C>T (p.Arg805=) rs61744218 0.00860
NM_000138.5(FBN1):c.3965-8T>C rs140637 0.00859
NM_000335.5(SCN5A):c.4215G>A (p.Gly1405=) rs41311123 0.00859
NM_001379081.2(FREM1):c.1047G>A (p.Leu349=) rs115701214 0.00859
NM_006757.4(TNNT3):c.367-9T>C rs76471485 0.00859
NM_000168.6(GLI3):c.368-19G>A rs79879393 0.00858
NM_001127671.2(LIFR):c.*1459T>G rs75965322 0.00858
NM_030777.4(SLC2A10):c.*50T>C rs36103903 0.00858
NM_000280.4(PAX6):c.*2416G>T rs79739975 0.00857
NM_015311.3(OBSL1):c.1512C>T (p.Thr504=) rs138262993 0.00857
NM_021224.6(ZNF462):c.5328G>A (p.Ser1776=) rs17785570 0.00857
NM_024757.5(EHMT1):c.526C>T (p.Pro176Ser) rs34704821 0.00856
NM_194292.3(SASS6):c.735A>G (p.Gln245=) rs150364529 0.00856
NM_000512.5(GALNS):c.723C>T (p.Ala241=) rs117053987 0.00855
NM_001044385.3(TMEM237):c.*1489G>C rs78220061 0.00855
NM_001127671.2(LIFR):c.*324G>A rs3797156 0.00855
NM_020247.5(COQ8A):c.*790A>G rs12565212 0.00855
NM_015272.5(RPGRIP1L):c.3548C>G (p.Ala1183Gly) rs139974543 0.00854
NM_017617.5(NOTCH1):c.1635C>T (p.Asp545=) rs11574889 0.00854
NM_015335.5(MED13L):c.3450C>T (p.Pro1150=) rs78561507 0.00853
NM_015335.5(MED13L):c.5955C>T (p.Leu1985=) rs113830913 0.00853
NM_015545.4(PTCD1):c.307C>T (p.Arg103Cys) rs150504114 0.00853
NM_176787.5(PIGN):c.2712T>G (p.Phe904Leu) rs34231046 0.00853
NM_000093.5(COL5A1):c.-110A>G rs180741151 0.00852
NM_000431.4(MVK):c.*412C>T rs192656516 0.00852
NM_000478.6(ALPL):c.1119C>T (p.Thr373=) rs112335417 0.00852
NM_001109878.2(TBX22):c.72C>T (p.Leu24=) rs138387312 0.00852
NM_001127671.2(LIFR):c.1732G>A (p.Asp578Asn) rs3729740 0.00852
NM_002334.4(LRP4):c.*54G>A rs147627264 0.00852
NM_006306.4(SMC1A):c.2197-5T>C rs2297104 0.00852
NM_001127671.2(LIFR):c.*1005A>G rs3776424 0.00851
NM_003850.3(SUCLA2):c.1099G>A (p.Asp367Asn) rs117412559 0.00851
NM_020458.4(TTC7A):c.873G>C (p.Leu291=) rs113997845 0.00851
NM_139057.4(ADAMTS17):c.1651G>A (p.Ala551Thr) rs61754841 0.00851
NM_147127.5(EVC2):c.3138C>G (p.Ser1046Arg) rs73074138 0.00851
NM_004531.5(MOCS2):c.*321A>G rs73756618 0.00849
NM_005751.5(AKAP9):c.4841G>A (p.Arg1614Gln) rs2230768 0.00849
NM_032444.4(SLX4):c.710G>A (p.Arg237Gln) rs138615800 0.00848
NM_002474.3(MYH11):c.4116+12G>A rs193005461 0.00847
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val) rs75937132 0.00847
NM_004544.4(NDUFA10):c.*407C>T rs74614612 0.00847
NM_025132.4(WDR19):c.1581C>A (p.Thr527=) rs114689848 0.00847
NM_000088.4(COL1A1):c.1615-4C>A rs41316657 0.00846
NM_002617.4(PEX10):c.843G>A (p.Arg281=) rs35082957 0.00846
NM_002693.3(POLG):c.2109C>A (p.Ala703=) rs2307429 0.00845
NM_001042492.3(NF1):c.4835+36T>C rs16972128 0.00844
NM_012293.3(PXDN):c.3621G>T (p.Ser1207=) rs61731247 0.00844
NM_020964.3(EPG5):c.3279C>T (p.Ser1093=) rs72918350 0.00844
NM_005271.5(GLUD1):c.376G>A (p.Asp126Asn) rs139579928 0.00843
NM_018136.5(ASPM):c.7023C>T (p.Ile2341=) rs115891952 0.00843
NM_198239.2(CCN6):c.366C>T (p.Cys122=) rs112686348 0.00843
NM_001365276.2(TNXB):c.4484C>T (p.Thr1495Ile) rs6910390 0.00842
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn) rs1805128 0.00841
NM_000335.5(SCN5A):c.*614G>A rs41315491 0.00841
NM_015338.6(ASXL1):c.3692C>T (p.Ser1231Phe) rs74638057 0.00841
NM_017909.4(RMND1):c.783C>T (p.Ile261=) rs17081207 0.00841
NM_001130144.3(LTBP3):c.2222C>G (p.Ala741Gly) rs148780991 0.00840
NM_004333.6(BRAF):c.1315-18T>G rs6959000 0.00840
NM_005027.4(PIK3R2):c.2163C>T (p.Pro721=) rs147625988 0.00840
NM_015338.6(ASXL1):c.3519G>A (p.Leu1173=) rs117901891 0.00839
NM_139125.4(MASP1):c.1824T>C (p.Ser608=) rs7652842 0.00839
NM_000090.4(COL3A1):c.*34T>G rs191843385 0.00838
NM_000789.4(ACE):c.780C>T (p.Arg260=) rs4302 0.00838
NM_005359.6(SMAD4):c.*6513C>T rs76020793 0.00838
NM_022725.4(FANCF):c.96C>T (p.Arg32=) rs151253274 0.00838
NM_145861.4(EDARADD):c.*966A>G rs61740489 0.00838
NM_198253.3(TERT):c.1659C>T (p.Val553=) rs35809415 0.00838
NM_001330078.2(NRXN1):c.772+1140G>A rs61658382 0.00837
NM_003072.5(SMARCA4):c.930C>A (p.Arg310=) rs146141457 0.00837
NM_000302.4(PLOD1):c.77-3370G>A rs112799470 0.00836
NM_001429.4(EP300):c.2998-12G>A rs115849119 0.00836
NM_002834.5(PTPN11):c.*1374G>C rs139266170 0.00836
NM_006567.5(FARS2):c.102G>A (p.Ser34=) rs113155624 0.00836
NM_030973.4(MED25):c.1727C>G (p.Ala576Gly) rs193291405 0.00836
NM_145861.4(EDARADD):c.*1174A>G rs61511776 0.00836
NM_001382391.1(CSPP1):c.1977T>C (p.Thr659=) rs114177619 0.00835
NM_004239.4(TRIP11):c.2134G>A (p.Glu712Lys) rs143524436 0.00835
NM_020937.4(FANCM):c.5142G>A (p.Ala1714=) rs111894696 0.00835
NM_000095.3(COMP):c.1956C>T (p.Asn652=) rs10421797 0.00834
NM_004525.3(LRP2):c.11996T>G (p.Val3999Gly) rs79723119 0.00834
NM_006939.4(SOS2):c.591A>G (p.Leu197=) rs113460230 0.00834
NM_024596.5(MCPH1):c.1738A>G (p.Ser580Gly) rs17076894 0.00834
NM_001042492.3(NF1):c.*498T>G rs9900729 0.00833
NM_006031.6(PCNT):c.6616A>G (p.Thr2206Ala) rs9981448 0.00833
NM_207361.6(FREM2):c.*5344T>G rs7327183 0.00833
NM_000202.8(IDS):c.467C>A (p.Pro156Gln) rs145231211 0.00832
NM_001374353.1(GLI2):c.1818C>A (p.Gly606=) rs61732850 0.00832
NM_001999.4(FBN2):c.4312G>A (p.Glu1438Lys) rs56168072 0.00832
NM_001276345.2(TNNT2):c.610-81C>T rs28730745 0.00831
NM_001018113.3(FANCB):c.-229T>G rs149617434 0.00830
NM_002485.5(NBN):c.2146A>G (p.Asn716Asp) rs72563785 0.00830
NM_014704.4(CEP104):c.2569G>A (p.Glu857Lys) rs111626991 0.00830
NM_018699.4(PRDM5):c.1273A>G (p.Ile425Val) rs75893420 0.00830
NM_000202.8(IDS):c.465T>A (p.Phe155Leu) rs149210251 0.00829
NM_022095.4(ZNF335):c.3800C>A (p.Pro1267Gln) rs113958814 0.00829
NM_001024630.4(RUNX2):c.*1448C>T rs77856760 0.00828
NM_002834.5(PTPN11):c.*2927T>A rs190612693 0.00828
NM_005219.5(DIAPH1):c.621-19T>C rs181224861 0.00828
NM_005529.7(HSPG2):c.12801G>T (p.Gly4267=) rs79386413 0.00828
NM_006907.4(PYCR1):c.894C>T (p.Thr298=) rs35589179 0.00828
NM_198525.3(KIF7):c.3012C>T (p.Arg1004=) rs61741227 0.00828
NM_000093.5(COL5A1):c.5136+152C>T rs113504942 0.00827
NM_000264.5(PTCH1):c.*851G>C rs73540186 0.00827
NM_000264.5(PTCH1):c.1641C>T (p.Ser547=) rs2066830 0.00827
NM_001371623.1(TCOF1):c.1278+60G>C rs143713714 0.00827
NM_001374353.1(GLI2):c.*1826T>G rs139459477 0.00827
NM_003924.4(PHOX2B):c.750G>A (p.Ala250=) rs17882335 0.00827
NM_001024630.4(RUNX2):c.*1859A>G rs115078186 0.00826
NM_002335.4(LRP5):c.266A>G (p.Gln89Arg) rs41494349 0.00826
NM_022168.4(IFIH1):c.177T>C (p.Val59=) rs115500208 0.00826
NM_000719.7(CACNA1C):c.1114-438T>G rs148469662 0.00825
NM_012233.3(RAB3GAP1):c.2463C>T (p.Phe821=) rs61748693 0.00825
NM_133259.4(LRPPRC):c.2481A>G (p.Pro827=) rs115993634 0.00825
NM_001080432.3(FTO):c.*1071G>C rs114521424 0.00824
NM_020937.4(FANCM):c.5224A>G (p.Ile1742Val) rs143662421 0.00824
NM_022662.4(ANAPC1):c.2513C>T (p.Thr838Met) rs147457004 0.00824
NM_000057.4(BLM):c.*108C>T rs28363374 0.00823
NM_002334.4(LRP4):c.*1017C>T rs10838623 0.00823
NM_006567.5(FARS2):c.170C>G (p.Ser57Cys) rs34382405 0.00823
NM_207361.6(FREM2):c.3753C>T (p.Ser1251=) rs78099370 0.00823
NM_001148.6(ANK2):c.9854T>C (p.Ile3285Thr) rs36210417 0.00822
NM_001122681.2(SH3BP2):c.*1811G>A rs114364582 0.00821
NM_001386795.1(DTNA):c.2162+14G>A rs76713874 0.00820
NM_002755.4(MAP2K1):c.-2A>G rs77796976 0.00820
NM_004525.3(LRP2):c.2175C>T (p.Thr725=) rs141180155 0.00820
NM_022370.4(ROBO3):c.-120G>C rs185584218 0.00820
NM_152564.5(VPS13B):c.2485G>A (p.Ala829Thr) rs61753721 0.00820
NM_001378964.1(CDON):c.*3514A>G rs77815115 0.00819
NM_002880.4(RAF1):c.1669-13T>C rs147475396 0.00819
NM_133259.4(LRPPRC):c.79C>T (p.Leu27Phe) rs116727742 0.00819
NM_000557.5(GDF5):c.*468G>A rs79051206 0.00818
NM_005271.5(GLUD1):c.1470G>A (p.Thr490=) rs141844887 0.00818
NM_020779.4(WDR35):c.1089G>A (p.Thr363=) rs79829477 0.00817
NM_004239.4(TRIP11):c.1517A>C (p.Glu506Ala) rs2273186 0.00816
NM_006031.6(PCNT):c.3615G>A (p.Ala1205=) rs61735806 0.00816
NM_002541.4(OGDH):c.1857T>C (p.Asn619=) rs113823811 0.00815
NM_003073.5(SMARCB1):c.362+7C>T rs34746244 0.00815
NM_025114.4(CEP290):c.3465G>A (p.Leu1155=) rs150138016 0.00815
NM_144508.5(KNL1):c.5151T>C (p.Pro1717=) rs74377704 0.00815
NM_000478.6(ALPL):c.455G>A (p.Arg152His) rs149344982 0.00814
NM_001371623.1(TCOF1):c.1783G>A (p.Val595Ile) rs75583421 0.00814
NM_003482.4(KMT2D):c.5016T>C (p.Pro1672=) rs114731584 0.00814
NM_006129.5(BMP1):c.-15C>G rs373839736 0.00814
NM_133459.4(CCBE1):c.*2978T>A rs117999156 0.00814
NM_000280.4(PAX6):c.*2985G>A rs3026399 0.00813
NM_003072.5(SMARCA4):c.4768+15G>C rs113131294 0.00813
NM_022725.4(FANCF):c.*2123G>A rs45625034 0.00813
NM_000124.4(ERCC6):c.*3395A>C rs142122327 0.00812
NM_000428.3(LTBP2):c.1553G>T (p.Ser518Ile) rs137854857 0.00812
NM_001148.6(ANK2):c.3379+12T>G rs139528815 0.00812
NM_004560.4(ROR2):c.471G>A (p.Thr157=) rs78781083 0.00812
NM_005726.6(TSFM):c.*958C>G rs57561819 0.00812
NM_006031.6(PCNT):c.4572G>A (p.Pro1524=) rs116431741 0.00812
NM_020745.4(AARS2):c.2629C>T (p.Arg877Trp) rs112247130 0.00812
NM_152564.5(VPS13B):c.*1539A>G rs80237506 0.00812
NM_000136.3(FANCC):c.1330-3C>T rs4647542 0.00811
NM_001367624.2(ZNF469):c.10034G>A (p.Arg3345His) rs79339739 0.00810
NM_001368894.2(PAX6):c.*417C>T rs55756603 0.00810
NM_025136.4(OPA3):c.*6294A>C rs114655581 0.00810
NM_032444.4(SLX4):c.1898G>A (p.Gly633Asp) rs1056085 0.00810
NM_133259.4(LRPPRC):c.*734A>G rs114517881 0.00810
NM_001194998.2(CEP152):c.2378G>T (p.Ser793Ile) rs2289178 0.00809
NM_000478.6(ALPL):c.*204T>C rs116162120 0.00808
NM_018136.5(ASPM):c.5185C>T (p.Arg1729Trp) rs41299623 0.00808
NM_198525.3(KIF7):c.-52G>T rs116805116 0.00808
NM_000057.4(BLM):c.2824-221G>A rs28385073 0.00807
NM_000393.5(COL5A2):c.-34C>T rs114102476 0.00807
NM_001329943.3(KIAA0586):c.3920A>G (p.Asp1307Gly) rs3783697 0.00806
NM_005184.4(CALM3):c.390C>T (p.Asp130=) rs35617141 0.00806
NM_138959.3(VANGL1):c.-239G>A rs563855412 0.00806
NM_002693.3(POLG):c.1713-31G>A rs3176191 0.00805
NM_020458.4(TTC7A):c.2152+20T>C rs13001154 0.00805
NM_001003722.2(GLE1):c.*1005T>C rs4466499 0.00804
NM_001083961.2(WDR62):c.2991C>T (p.Ala997=) rs77898819 0.00804
NM_144966.5(FREM1):c.*1376G>T rs150510806 0.00804
NM_152383.5(DIS3L2):c.1448G>A (p.Arg483Gln) rs148474013 0.00804
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu) rs61910685 0.00804
NM_000466.3(PEX1):c.1521G>C (p.Trp507Cys) rs112822975 0.00803
NM_182760.4(SUMF1):c.-9C>T rs148200251 0.00803
NM_000020.3(ACVRL1):c.62-69G>T rs114852790 0.00802
NM_001109878.2(TBX22):c.*6C>A rs137881052 0.00802
NM_002465.4(MYBPC1):c.2010C>T (p.Tyr670=) rs77045393 0.00802
NM_004782.4(SNAP29):c.130T>C (p.Tyr44His) rs116644127 0.00802
NM_207361.6(FREM2):c.*2375C>G rs114706463 0.00802
NM_152564.5(VPS13B):c.11181A>G (p.Arg3727=) rs138667007 0.00801
NM_001365951.3(KIF1B):c.*279C>T rs78490707 0.00800
NM_012414.4(RAB3GAP2):c.*1130A>G rs548918189 0.00800
NM_000141.5(FGFR2):c.109+10T>G rs3135722 0.00799
NM_001374828.1(ARID1B):c.6291C>T (p.Ile2097=) rs112703040 0.00799
NM_021926.4(ALX4):c.*1713G>C rs76845793 0.00799
NM_000138.5(FBN1):c.*867G>T rs189749406 0.00798
NM_001365999.1(SZT2):c.4051T>C (p.Trp1351Arg) rs72883814 0.00798
NM_002076.4(GNS):c.*814T>C rs78614043 0.00798
NM_014762.4(DHCR24):c.360C>T (p.Asp120=) rs61733134 0.00798
NM_000208.4(INSR):c.262T>C (p.Leu88=) rs61736580 0.00797
NM_000719.7(CACNA1C):c.371+17G>A rs78645318 0.00797
NM_002076.4(GNS):c.*1228C>T rs115625510 0.00797
NM_006918.5(SC5D):c.*1851C>G rs73592762 0.00797
NM_170707.4(LMNA):c.51C>T (p.Ser17=) rs11549668 0.00797
NM_001083614.2(EARS2):c.*1362T>C rs7342735 0.00796
NM_000112.4(SLC26A2):c.655A>G (p.Ile219Val) rs35919114 0.00795
NM_001083961.2(WDR62):c.142C>T (p.Leu48Phe) rs62109744 0.00795
NM_002076.4(GNS):c.*1648C>T rs75568735 0.00795
NM_014140.4(SMARCAL1):c.901C>G (p.Pro301Ala) rs146084305 0.00795
NM_020639.3(RIPK4):c.*550C>G rs113816274 0.00795
NM_000088.4(COL1A1):c.*1165C>G rs149419718 0.00794
NM_001122681.2(SH3BP2):c.171C>T (p.Cys57=) rs113748730 0.00794
NM_001148.6(ANK2):c.*446T>C rs114488000 0.00794
NM_002465.4(MYBPC1):c.-93C>T rs78173516 0.00794
NM_024757.5(EHMT1):c.1369+9C>T rs146125583 0.00794
NM_198859.4(PRICKLE2):c.144+10T>C rs74535153 0.00794
NM_000071.3(CBS):c.*566G>A rs111969522 0.00793
NM_000528.4(MAN2B1):c.1744C>G (p.Gln582Glu) rs59357922 0.00793
NM_000540.3(RYR1):c.12741C>T (p.Ala4247=) rs80039127 0.00793
NM_000751.3(CHRND):c.932+20G>A rs114022008 0.00793
NM_002470.4(MYH3):c.774G>A (p.Lys258=) rs16943598 0.00793
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331 0.00792
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00792
NM_000466.3(PEX1):c.2901G>A (p.Gln967=) rs111704518 0.00792
NM_001174147.2(LMX1B):c.*4373A>G rs78565800 0.00792
NM_002470.4(MYH3):c.3726T>C (p.Ser1242=) rs77946261 0.00792
NM_003640.5(ELP1):c.1758T>G (p.Pro586=) rs35054425 0.00792
NM_020774.4(MIB1):c.1962+17A>G rs139079482 0.00792
NM_000059.4(BRCA2):c.5418A>G (p.Glu1806=) rs34351119 0.00791
NM_020937.4(FANCM):c.2445G>A (p.Ser815=) rs61745871 0.00791
NM_182760.4(SUMF1):c.*210C>T rs115376966 0.00791
NM_001814.6(CTSC):c.825C>T (p.Thr275=) rs2230081 0.00790
NM_004525.3(LRP2):c.13803G>A (p.Met4601Ile) rs34564141 0.00790
NM_022369.4(STRA6):c.1903G>A (p.Gly635Ser) rs145614612 0.00790
NM_173660.5(DOK7):c.332-4G>A rs199578351 0.00790
NM_000059.4(BRCA2):c.*295C>G rs11571834 0.00789
NM_000414.4(HSD17B4):c.740-16T>G rs35416500 0.00789
NM_005921.2(MAP3K1):c.81C>T (p.Gly27=) rs185050655 0.00789
NM_000088.4(COL1A1):c.1803C>T (p.Pro601=) rs148275339 0.00788
NM_001276345.2(TNNT2):c.474G>C (p.Arg158=) rs35914325 0.00788
NM_005921.2(MAP3K1):c.2953_2955del (p.Thr985del) rs140733770 0.00788
NM_012293.3(PXDN):c.4088G>A (p.Gly1363Glu) rs61747868 0.00788
NM_000126.4(ETFA):c.734-20C>A rs2460160 0.00787
NM_000257.4(MYH7):c.4520-25C>T rs45503601 0.00787
NM_001083614.2(EARS2):c.*1099A>G rs74014928 0.00787
NM_002693.3(POLG):c.3561G>C (p.Arg1187=) rs62640037 0.00787
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu) rs56219475 0.00787
NM_022369.4(STRA6):c.173C>T (p.Ser58Leu) rs142105038 0.00787
NM_001130144.3(LTBP3):c.3573C>T (p.Ser1191=) rs145046881 0.00786
NM_004393.6(DAG1):c.2271C>T (p.Ala757=) rs78281659 0.00786
NM_005529.7(HSPG2):c.8929C>T (p.Arg2977Trp) rs114851469 0.00786
NM_002693.3(POLG):c.3644-9A>G rs115048121 0.00785
NM_004380.3(CREBBP):c.5454G>A (p.Val1818=) rs61754523 0.00785
NM_001203.3(BMPR1B):c.705C>T (p.Thr235=) rs56083112 0.00784
NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser) rs28763945 0.00784
NM_003413.4(ZIC3):c.861G>A (p.Val287=) rs61735159 0.00784
NM_003849.4(SUCLG1):c.*207A>G rs73942653 0.00784
NM_207361.6(FREM2):c.1518C>T (p.Ser506=) rs141821695 0.00784
NM_000501.4(ELN):c.*383T>G rs184490734 0.00783
NM_000789.4(ACE):c.975G>T (p.Val325=) rs61738840 0.00783
NM_021044.4(DHH):c.543C>T (p.His181=) rs117527954 0.00783
NM_025074.7(FRAS1):c.1710C>T (p.Pro570=) rs17003124 0.00783
NM_001814.6(CTSC):c.-62C>T rs139541967 0.00782
NM_022336.4(EDAR):c.57T>A (p.Ser19=) rs28407350 0.00782
NM_023110.3(FGFR1):c.600C>T (p.Asp200=) rs17175898 0.00782
NM_000093.5(COL5A1):c.5151C>T (p.Asp1717=) rs61729558 0.00781
NM_000789.4(ACE):c.970C>T (p.Arg324Trp) rs35141294 0.00781
NM_001382391.1(CSPP1):c.3110-11A>G rs148930801 0.00781
NM_002968.3(SALL1):c.390G>A (p.Pro130=) rs75156807 0.00781
NM_018136.5(ASPM):c.7565T>G (p.Leu2522Ter) rs62624965 0.00780
NM_000512.5(GALNS):c.899-4C>G rs143793386 0.00779
NM_001084.5(PLOD3):c.1179C>T (p.Ala393=) rs11546152 0.00779
NM_001793.6(CDH3):c.2280+7C>T rs114709429 0.00779
NM_003119.4(SPG7):c.120G>A (p.Gly40=) rs187330648 0.00779
NM_206937.2(LIG4):c.513T>C (p.Leu171=) rs3093764 0.00779
NM_001148.6(ANK2):c.9996T>C (p.Ser3332=) rs145557320 0.00778
NM_017617.5(NOTCH1):c.2969+13C>T rs7864720 0.00778
NM_000414.4(HSD17B4):c.*6A>G rs111671384 0.00777
NM_005592.4(MUSK):c.1991A>G (p.Asn664Ser) rs55963442 0.00777
NM_177438.3(DICER1):c.2370G>A (p.Arg790=) rs112712209 0.00777
NM_001351132.2(PEX5):c.998G>A (p.Arg333His) rs59209175 0.00776
NM_004370.6(COL12A1):c.5508G>A (p.Thr1836=) rs77425231 0.00776
NM_004370.6(COL12A1):c.6590C>T (p.Thr2197Ile) rs117038107 0.00776
NM_021926.4(ALX4):c.*156G>A rs376658247 0.00776
NM_032444.4(SLX4):c.5281C>T (p.Arg1761Cys) rs143818824 0.00776
NM_001159773.2(CANT1):c.*1093C>T rs8078860 0.00775
NM_004560.4(ROR2):c.*245A>G rs77664658 0.00775
NM_005751.5(AKAP9):c.139C>T (p.His47Tyr) rs35669569 0.00775
NM_006306.4(SMC1A):c.*2389G>T rs114329529 0.00775
NM_014140.4(SMARCAL1):c.1243A>G (p.Ser415Gly) rs58848916 0.00775
NM_000079.4(CHRNA1):c.*426C>A rs115375214 0.00774
NM_001106.4(ACVR2B):c.*1957T>G rs115223892 0.00774
NM_018136.5(ASPM):c.10162-7T>A rs141402675 0.00774
NM_032444.4(SLX4):c.3963G>A (p.Pro1321=) rs116781836 0.00774
NM_000393.5(COL5A2):c.1104+15T>C rs75486409 0.00772
NM_001113378.2(FANCI):c.1326G>A (p.Glu442=) rs34405660 0.00772
NM_005921.2(MAP3K1):c.1917G>A (p.Leu639=) rs2229883 0.00772
NM_007129.5(ZIC2):c.528C>T (p.Asn176=) rs143055297 0.00772
NM_006031.6(PCNT):c.4910C>T (p.Pro1637Leu) rs34849154 0.00771
NM_006031.6(PCNT):c.7159G>A (p.Val2387Met) rs75024419 0.00771
NM_018127.7(ELAC2):c.1479G>C (p.Pro493=) rs140335642 0.00771
NM_000393.5(COL5A2):c.975C>T (p.Pro325=) rs144344474 0.00770
NM_001018115.3(FANCD2):c.3105+15C>T rs460965 0.00770
NM_001174147.2(LMX1B):c.*1538C>G rs144857145 0.00770
NM_002693.3(POLG):c.3597C>A (p.Thr1199=) rs2307443 0.00770
NM_012233.3(RAB3GAP1):c.669G>T (p.Leu223Phe) rs76927619 0.00770
NM_000428.3(LTBP2):c.4769T>C (p.Val1590Ala) rs139932140 0.00769
NM_001136271.3(NKX2-6):c.183C>T (p.Gly61=) rs139466287 0.00769
NM_001367624.2(ZNF469):c.10361G>A (p.Arg3454Gln) rs75288466 0.00769
NM_006218.4(PIK3CA):c.363C>T (p.Ile121=) rs115746478 0.00769
NM_001365999.1(SZT2):c.759G>A (p.Ser253=) rs1889586 0.00768
NM_005027.4(PIK3R2):c.291C>T (p.Pro97=) rs201655779 0.00768
NM_022370.4(ROBO3):c.3593G>A (p.Arg1198His) rs148372884 0.00768
NM_002485.5(NBN):c.37+5G>A rs116735828 0.00767
NM_006031.6(PCNT):c.7353G>A (p.Gly2451=) rs61735816 0.00767
NM_006129.5(BMP1):c.*22G>A rs10093980 0.00767
NM_000233.4(LHCGR):c.*131C>T rs73928204 0.00766
NM_001126121.2(SLC25A19):c.*200G>A rs62622012 0.00766
NM_012463.4(ATP6V0A2):c.*1645G>A rs74994957 0.00766
NM_014244.5(ADAMTS2):c.1644A>G (p.Gly548=) rs61731454 0.00766
NM_000540.3(RYR1):c.906C>T (p.Asp302=) rs145943283 0.00765
NM_000719.7(CACNA1C):c.2854-333C>T rs114405967 0.00765
NM_001367624.2(ZNF469):c.4363C>G (p.Leu1455Val) rs116532825 0.00765
NM_001044385.3(TMEM237):c.75-13T>C rs116829037 0.00764
NM_001080432.3(FTO):c.*619A>C rs149440289 0.00764
NM_006031.6(PCNT):c.7914-4G>A rs76287849 0.00764
NM_014244.5(ADAMTS2):c.3279T>C (p.Cys1093=) rs73806887 0.00764
NM_001042545.2(LTBP4):c.2053G>A (p.Asp685Asn) rs34093919 0.00763
NM_004273.5(CHST3):c.1173C>A (p.Ile391=) rs115579748 0.00763
NM_002335.4(LRP5):c.3564G>A (p.Arg1188=) rs117289001 0.00762
NM_030957.4(ADAMTS10):c.1803T>C (p.Cys601=) rs115093676 0.00762
NM_001106.4(ACVR2B):c.993C>T (p.Ser331=) rs2228012 0.00761
NM_000218.3(KCNQ1):c.1927G>A (p.Gly643Ser) rs1800172 0.00760
NM_000302.4(PLOD1):c.302+15G>A rs140227667 0.00760
NM_001106.4(ACVR2B):c.666+5G>A rs187763364 0.00760
NM_018718.3(CEP41):c.718T>G (p.Cys240Gly) rs113941736 0.00760
NM_021625.5(TRPV4):c.1684G>A (p.Val562Ile) rs56177950 0.00760
NM_152564.5(VPS13B):c.3413C>T (p.Pro1138Leu) rs35342235 0.00760
NM_005027.4(PIK3R2):c.1736+12C>T rs112411913 0.00759
NM_005359.6(SMAD4):c.455-43A>T rs149541014 0.00759
NM_006031.6(PCNT):c.7404G>C (p.Gln2468His) rs77075366 0.00759
NM_006912.6(RIT1):c.375C>T (p.Asp125=) rs34831194 0.00759
NM_022552.5(DNMT3A):c.759C>T (p.Pro253=) rs77558739 0.00759
NM_022725.4(FANCF):c.387C>T (p.Leu129=) rs45556032 0.00759
NM_002296.4(LBR):c.90C>T (p.His30=) rs2230416 0.00758
NM_015311.3(OBSL1):c.5202C>A (p.Asp1734Glu) rs181520135 0.00757
NM_000256.3(MYBPC3):c.2498C>T (p.Ala833Val) rs3729952 0.00756
NM_000501.3(ELN):c.-38C>T rs41410045 0.00756
NM_000181.4(GUSB):c.561A>G (p.Gln187=) rs74430256 0.00755
NM_001360.3(DHCR7):c.-195G>T rs141057811 0.00755
NM_007059.4(KPTN):c.631G>C (p.Gly211Arg) rs182019900 0.00755
NM_025216.3(WNT10A):c.493G>A (p.Gly165Arg) rs77583146 0.00755
NM_145068.4(TRPV3):c.*2014A>T rs79031278 0.00755
NM_213720.3(CHCHD10):c.234G>A (p.Ser78=) rs111527940 0.00755
NM_014244.5(ADAMTS2):c.*445G>A rs73806886 0.00754
NM_014244.5(ADAMTS2):c.*534G>A rs73806885 0.00754
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=) rs201354526 0.00754
NM_018062.4(FANCL):c.*95A>G rs76348639 0.00754
NM_152281.3(GORAB):c.*534T>C rs41272499 0.00754
NM_014391.3(ANKRD1):c.-17A>G rs79341122 0.00753
NM_001367624.2(ZNF469):c.5087C>T (p.Pro1696Leu) rs115487796 0.00752
NM_001369268.1(ACAN):c.438G>A (p.Leu146=) rs35600223 0.00751
NM_002335.4(LRP5):c.687-17C>T rs186410639 0.00751
NM_012463.4(ATP6V0A2):c.*1064G>A rs7980215 0.00751
NM_014244.5(ADAMTS2):c.*1719T>C rs56153390 0.00751
NM_022356.4(P3H1):c.611C>A (p.Pro204His) rs77208721 0.00751
NM_207361.6(FREM2):c.6989T>C (p.Val2330Ala) rs61744595 0.00751
NM_000052.7(ATP7A):c.1516A>G (p.Ile506Val) rs143907597 0.00750
NM_000088.4(COL1A1):c.1821C>T (p.Val607=) rs41316667 0.00750
NM_006031.6(PCNT):c.8065-19G>A rs78561636 0.00750
NM_020751.3(COG6):c.1963C>A (p.Leu655Ile) rs114044193 0.00750
NM_001143979.2(NDE1):c.-232A>G rs77151061 0.00749
NM_012463.4(ATP6V0A2):c.*1837T>C rs115183932 0.00749
NM_014141.6(CNTNAP2):c.1308C>T (p.Asn436=) rs79039458 0.00749
NM_030777.4(SLC2A10):c.1548-18G>A rs113496485 0.00749
NM_144966.6(FREM1):c.*389T>C rs73411798 0.00749
NM_000393.5(COL5A2):c.370-16C>T rs148220961 0.00748
NM_012463.4(ATP6V0A2):c.*3357G>C rs7297473 0.00748
NM_000316.3(PTH1R):c.1395+15G>A rs151077141 0.00747
NM_005045.4(RELN):c.6343G>A (p.Gly2115Ser) rs116716038 0.00747
NM_015338.6(ASXL1):c.1954G>A (p.Gly652Ser) rs3746609 0.00747
NM_030777.4(SLC2A10):c.*478G>A rs113058599 0.00747
NM_207361.6(FREM2):c.1188G>C (p.Gln396His) rs61997174 0.00747
NM_000335.5(SCN5A):c.*1164G>T rs41315489 0.00746
NM_001122681.2(SH3BP2):c.*1318T>C rs57162329 0.00746
NM_002474.3(MYH11):c.4158C>T (p.Thr1386=) rs112377790 0.00746
NM_006129.5(BMP1):c.1297+14C>T rs151163052 0.00746
NM_022369.4(STRA6):c.367G>C (p.Ala123Pro) rs115067613 0.00746
NM_030777.4(SLC2A10):c.*32T>C rs78864327 0.00746
NM_001271938.2(MEGF8):c.5011+15C>T rs78233194 0.00745
NM_006918.5(SC5D):c.*3196C>T rs111744316 0.00745
NM_001042492.3(NF1):c.7322-17C>T rs17884859 0.00744
NM_006907.4(PYCR1):c.*68C>T rs113083225 0.00744
NM_006939.4(SOS2):c.3075+7C>T rs144391749 0.00743
NM_030777.4(SLC2A10):c.*513T>C rs111352987 0.00743
NM_001371623.1(TCOF1):c.2859+3303G>A rs112447402 0.00742
NM_002010.3(FGF9):c.*1877G>A rs17070759 0.00742
NM_012463.4(ATP6V0A2):c.*2710G>A rs145999411 0.00742
NM_014918.5(CHSY1):c.1566G>A (p.Ser522=) rs74784454 0.00742
NM_015311.3(OBSL1):c.3649G>A (p.Glu1217Lys) rs72957510 0.00742
NM_024996.7(GFM1):c.-31A>G rs28372853 0.00742
NM_130837.3(OPA1):c.2973G>A (p.Ala991=) rs117475774 0.00742
NM_005188.4(CBL):c.513T>C (p.Ser171=) rs2227987 0.00741
NM_021939.4(FKBP10):c.1546G>A (p.Glu516Lys) rs76022961 0.00741
NM_030777.4(SLC2A10):c.*641G>A rs113629687 0.00741
NM_000197.2(HSD17B3):c.804C>T (p.Cys268=) rs8190555 0.00740
NM_015311.3(OBSL1):c.3950T>A (p.Leu1317Gln) rs115283876 0.00740
NM_025114.4(CEP290):c.5199A>G (p.Gln1733=) rs79644671 0.00740
NM_152564.5(VPS13B):c.5517G>A (p.Gln1839=) rs61742808 0.00740
NM_001358530.2(MOCS1):c.*578C>T rs147395035 0.00739
NM_020297.4(ABCC9):c.3409G>A (p.Val1137Ile) rs147895473 0.00739
NM_030957.4(ADAMTS10):c.*259G>A rs74498506 0.00739
NM_198253.3(TERT):c.2097C>T (p.Ala699=) rs33963617 0.00739
NM_000719.7(CACNA1C):c.4140+211G>A rs149013171 0.00738
NM_001018115.3(FANCD2):c.195G>C (p.Gln65His) rs36084488 0.00738
NM_005327.7(HADH):c.881A>G (p.Asn294Ser) rs36030668 0.00738
NM_138959.3(VANGL1):c.*1652C>T rs146512242 0.00738
NM_001330078.2(NRXN1):c.3408G>A (p.Thr1136=) rs80094872 0.00737
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg) rs148398509 0.00737
NM_012186.3(FOXE3):c.618C>G (p.Ala206=) rs189628587 0.00737
NM_015311.3(OBSL1):c.4361G>A (p.Arg1454Gln) rs183329050 0.00737
NM_030632.3(ASXL3):c.5991A>G (p.Lys1997=) rs75411012 0.00737
NM_198173.3(GRHL3):c.800C>G (p.Ala267Gly) rs34593559 0.00737
NM_001368809.2(AMPD2):c.223-4C>T rs116223306 0.00736
NM_021926.4(ALX4):c.63C>T (p.Tyr21=) rs61737298 0.00736
NM_005751.5(AKAP9):c.9929G>A (p.Arg3310Gln) rs78351282 0.00735
NM_000218.3(KCNQ1):c.1942G>A (p.Val648Ile) rs34150427 0.00734
NM_004525.3(LRP2):c.10403C>T (p.Pro3468Leu) rs143367996 0.00734
NC_000012.12:g.109573660G>A rs66486014 0.00733
NM_006031.6(PCNT):c.8671G>A (p.Ala2891Thr) rs33956783 0.00733
NM_153717.3(EVC):c.1320T>A (p.Phe440Leu) rs60582583 0.00733
NM_000789.4(ACE):c.1060G>A (p.Gly354Arg) rs56394458 0.00732
NM_001378615.1(CC2D2A):c.721G>A (p.Glu241Lys) rs62000428 0.00732
NM_139057.4(ADAMTS17):c.*1565G>C rs60803373 0.00732
NM_000052.7(ATP7A):c.565A>G (p.Ile189Val) rs2228447 0.00731
NM_001367624.2(ZNF469):c.8868C>T (p.Pro2956=) rs137930753 0.00731
NM_021926.4(ALX4):c.918G>A (p.Pro306=) rs145904583 0.00731
NM_198525.3(KIF7):c.3999G>C (p.Pro1333=) rs137993810 0.00730
NM_002880.4(RAF1):c.1941C>T (p.Val647=) rs3730297 0.00729
NM_004239.4(TRIP11):c.3147G>A (p.Leu1049=) rs17127842 0.00729
NM_004273.5(CHST3):c.*3301G>A rs75962504 0.00729
NM_000286.3(PEX12):c.*781T>A rs185900922 0.00728
NM_000501.4(ELN):c.1622-13C>T rs41362346 0.00728
NM_002471.4(MYH6):c.4206C>T (p.Ala1402=) rs111638554 0.00728
NM_007055.4(POLR3A):c.*1152G>A rs143418325 0.00728
NM_007055.4(POLR3A):c.3594+15G>A rs116003372 0.00728
NM_015338.6(ASXL1):c.3498C>G (p.Ser1166Arg) rs75887545 0.00728
NM_022168.4(IFIH1):c.1641+1G>C rs35337543 0.00728
NM_000719.7(CACNA1C):c.3157-51T>C rs111487482 0.00727
NM_001303.4(COX10):c.682C>T (p.Arg228Cys) rs114521946 0.00727
NM_001374828.1(ARID1B):c.2629C>T (p.Pro877Ser) rs114201726 0.00727
NM_001374828.1(ARID1B):c.5576A>C (p.Glu1859Ala) rs149518409 0.00727
NM_012463.4(ATP6V0A2):c.2054G>A (p.Arg685Gln) rs7969410 0.00727
NM_014780.5(CUL7):c.4762C>A (p.Leu1588Ile) rs147493246 0.00727
NM_213599.3(ANO5):c.800C>G (p.Thr267Ser) rs138144479 0.00727
NM_000719.7(CACNA1C):c.3209+112G>A rs112353655 0.00726
NM_004239.4(TRIP11):c.*749G>A rs150189603 0.00726
NM_153281.2(HYAL1):c.-240A>G rs12634784 0.00726
NM_182476.3(COQ6):c.1184C>T (p.Thr395Met) rs34746680 0.00726
NM_000514.4(GDNF):c.*2713G>A rs143311673 0.00725
NM_001048166.1(STIL):c.3430G>A (p.Asp1144Asn) rs112563569 0.00725
NM_003193.5(TBCE):c.1050A>G (p.Glu350=) rs35663526 0.00725
NM_004525.3(LRP2):c.13545G>A (p.Gly4515=) rs34029982 0.00725
NM_001374353.1(GLI2):c.*1785A>G rs150539352 0.00724
NM_001854.4(COL11A1):c.*1322G>A rs139810625 0.00724
NM_024537.4(CARS2):c.1624-12C>G rs115116722 0.00724
NM_052859.4(RFT1):c.*1533G>A rs139197209 0.00724
NM_152594.3(SPRED1):c.-93C>T rs192699510 0.00724
NM_203486.3(DLL3):c.674G>A (p.Ser225Asn) rs35380611 0.00724
NM_001082538.3(TCTN1):c.1234A>G (p.Ile412Val) rs75714509 0.00723
NM_001203.3(BMPR1B):c.*1972C>A rs185854880 0.00723
NM_004370.6(COL12A1):c.6210+13C>T rs139520272 0.00723
NM_025074.7(FRAS1):c.*709G>A rs115458096 0.00723
NM_052859.4(RFT1):c.*2655T>C rs148022607 0.00723
NM_030632.3(ASXL3):c.4239C>T (p.Val1413=) rs149577667 0.00722
NM_001174150.2(ARL13B):c.105C>T (p.Thr35=) rs146396078 0.00721
NM_001844.5(COL2A1):c.708+8C>T rs41317893 0.00720
NM_024312.5(GNPTAB):c.3197C>T (p.Thr1066Met) rs34083392 0.00720
NM_182760.4(SUMF1):c.841-14G>A rs9852367 0.00720
NM_001082538.3(TCTN1):c.220+12G>C rs76843552 0.00719
NM_001267550.2(TTN):c.60232G>A (p.Val20078Met) rs77351975 0.00719
NM_001365999.1(SZT2):c.5025-17A>G rs149950330 0.00719
NM_001384732.1(CPLANE1):c.8344C>A (p.Pro2782Thr) rs77014998 0.00719
NM_007373.4(SHOC2):c.*773G>A rs114628508 0.00719
NM_014244.5(ADAMTS2):c.3014C>T (p.Ala1005Val) rs79330641 0.00719
NM_001267550.2(TTN):c.63026G>A (p.Arg21009Gln) rs72646851 0.00718
NM_001429.4(EP300):c.1168+7G>C rs181755354 0.00718
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855 0.00718
NM_001365999.1(SZT2):c.2631C>T (p.Thr877=) rs140831372 0.00717
NM_003477.3(PDHX):c.957G>A (p.Leu319=) rs36047324 0.00717
NM_004239.4(TRIP11):c.*664C>T rs138892598 0.00717
NM_001365951.3(KIF1B):c.3864+6A>C rs114266141 0.00716
NM_000284.4(PDHA1):c.844A>C (p.Met282Leu) rs2229137 0.00715
NM_004380.3(CREBBP):c.1651C>A (p.Leu551Ile) rs61753381 0.00715
NM_001106.4(ACVR2B):c.*3127G>A rs139847458 0.00714
NM_018055.5(NODAL):c.588C>G (p.Leu196=) rs2231959 0.00714
NM_000090.4(COL3A1):c.583-8C>T rs10166835 0.00713
NM_006121.4(KRT1):c.762G>A (p.Ser254=) rs2741155 0.00713
NM_207034.3(EDN3):c.*165A>G rs11570353 0.00713
NM_001291415.2(KDM6A):c.1999C>G (p.Leu667Val) rs112725812 0.00712
NM_145068.4(TRPV3):c.2321C>T (p.Thr774Ile) rs7212634 0.00712
NM_002296.4(LBR):c.*769A>T rs75904736 0.00711
NM_002485.5(NBN):c.1489A>G (p.Thr497Ala) rs3026268 0.00711
NM_012082.4(ZFPM2):c.40+12C>G rs149902904 0.00711
NM_023110.3(FGFR1):c.2262G>A (p.Leu754=) rs56341011 0.00711
NM_145020.5(CFAP53):c.305G>A (p.Arg102His) rs76722120 0.00711
NM_004525.3(LRP2):c.12811+12G>A rs112157558 0.00710
NM_025074.7(FRAS1):c.*2370G>A rs116617672 0.00710
NM_000719.7(CACNA1C):c.5097C>T (p.Ala1699=) rs113595214 0.00709
NM_001106.4(ACVR2B):c.*3956A>G rs77091454 0.00709
NM_001814.6(CTSC):c.*253T>C rs116618365 0.00709
NM_020533.3(MCOLN1):c.680+14A>T rs151281315 0.00709
NM_000090.4(COL3A1):c.*88C>T rs11162 0.00708
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe) rs117125761 0.00708
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys) rs41549716 0.00708
NM_006371.5(CRTAP):c.*982A>G rs78409158 0.00708
NM_020964.3(EPG5):c.6522G>A (p.Pro2174=) rs148683476 0.00708
NM_022166.4(XYLT1):c.606A>G (p.Lys202=) rs114030556 0.00708
NM_000512.5(GALNS):c.775C>A (p.Arg259=) rs61742258 0.00707
NM_001134831.2(AHI1):c.2962-16A>G rs41287056 0.00707
NM_001271938.2(MEGF8):c.5489-16C>T rs35875097 0.00707
NM_001365951.3(KIF1B):c.4055+6A>G rs76519832 0.00707
NM_005982.4(SIX1):c.*297T>G rs147081368 0.00707
NM_014244.5(ADAMTS2):c.68T>C (p.Leu23Pro) rs565885690 0.00707
NM_014780.5(CUL7):c.1780G>A (p.Ala594Thr) rs141065679 0.00707
NM_020964.3(EPG5):c.1399C>T (p.Leu467=) rs145998030 0.00707
NM_001367624.2(ZNF469):c.7805T>C (p.Leu2602Pro) rs150488251 0.00706
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_004278.4(PIGL):c.*364G>A rs114659268 0.00706
NM_005236.3(ERCC4):c.2463A>G (p.Pro821=) rs2020953 0.00706
NM_001365999.1(SZT2):c.7211-13C>G rs116454519 0.00705
NM_000093.5(COL5A1):c.787-15G>A rs150200872 0.00704
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=) rs35593170 0.00704
NM_001011658.4(TRAPPC2):c.*1443G>A rs148298471 0.00704
NM_002386.4(MC1R):c.-356A>G rs76337330 0.00704
NM_018082.6(POLR3B):c.-1C>T rs117873765 0.00704
NM_025114.4(CEP290):c.1624-5T>C rs142742071 0.00704
NM_030973.4(MED25):c.1482+19G>A rs4802632 0.00704
NM_000393.5(COL5A2):c.2554-14A>G rs142429770 0.00703
NM_001931.5(DLAT):c.928G>A (p.Glu310Lys) rs116125936 0.00703
NM_003001.5(SDHC):c.*84G>C rs201210474 0.00703
NM_005726.6(TSFM):c.*997G>C rs114214463 0.00703
NM_006031.6(PCNT):c.2575G>A (p.Asp859Asn) rs115369710 0.00703
NM_000218.3(KCNQ1):c.387-17G>A rs28730661 0.00702
NM_001011658.4(TRAPPC2):c.*1128C>T rs181174972 0.00702
NM_001127671.2(LIFR):c.1899A>G (p.Ile633Met) rs2303743 0.00702
NM_004153.4(ORC1):c.1397C>T (p.Thr466Met) rs3087481 0.00702
NM_005726.6(TSFM):c.796C>A (p.Leu266Ile) rs62000432 0.00702
NM_000280.4(PAX6):c.*2238T>G rs73477658 0.00701
NM_001018113.3(FANCB):c.402A>G (p.Leu134=) rs147260208 0.00701
NM_001267550.2(TTN):c.24160A>T (p.Ile8054Leu) rs72648976 0.00701
NM_003738.5(PTCH2):c.1073G>A (p.Arg358His) rs139624405 0.00701
NM_004415.4(DSP):c.8300C>A (p.Thr2767Asn) rs34884895 0.00701
NM_004560.4(ROR2):c.*736A>G rs73654047 0.00701
NM_182943.3(PLOD2):c.10T>A (p.Cys4Ser) rs116803293 0.00701
NM_001854.4(COL11A1):c.*632G>A rs74108029 0.00700
NM_006939.4(SOS2):c.3489+19C>T rs149825446 0.00700
NM_022356.4(P3H1):c.940+90A>G rs114545255 0.00700
NM_015450.3(POT1):c.1687-5T>A rs35062732 0.00699
NM_018122.5(DARS2):c.493-3T>C rs140326200 0.00699
NM_152564.5(VPS13B):c.9943G>A (p.Val3315Ile) rs116746734 0.00699
NM_213599.3(ANO5):c.1545A>G (p.Ser515=) rs35843353 0.00699
NM_000071.3(CBS):c.829-12C>T rs75616587 0.00698
NM_005726.6(TSFM):c.5C>T (p.Ser2Leu) rs35957924 0.00698
NM_006015.6(ARID1A):c.5114A>G (p.Asn1705Ser) rs61756316 0.00698
NM_020458.4(TTC7A):c.649-10C>T rs149360779 0.00698
NM_170665.4(ATP2A2):c.-10C>G rs201929640 0.00698
NM_016955.4(SEPSECS):c.1394G>A (p.Arg465Gln) rs115959591 0.00697
NM_025136.4(OPA3):c.*1855T>C rs146599259 0.00697
NM_139057.4(ADAMTS17):c.*1992G>A rs114383018 0.00697
NM_000501.4(ELN):c.*548G>A rs117454480 0.00696
NM_001080432.3(FTO):c.*2551G>A rs116773044 0.00696
NM_003070.5(SMARCA2):c.669G>A (p.Gln223=) rs62639301 0.00696
NM_170665.4(ATP2A2):c.327A>G (p.Glu109=) rs55984131 0.00696
NM_001329943.3(KIAA0586):c.1097A>T (p.Glu366Val) rs59248588 0.00694
NM_004541.4(NDUFA1):c.94G>C (p.Gly32Arg) rs1801316 0.00694
NM_022455.5(NSD1):c.1515T>C (p.Asn505=) rs114747882 0.00694
NM_032444.4(SLX4):c.1924+19C>A rs113075119 0.00694
NM_181486.4(TBX5):c.982+16C>T rs28730762 0.00694
NM_001130144.3(LTBP3):c.1979-11C>G rs182705867 0.00693
NM_015559.3(SETBP1):c.4398G>T (p.Glu1466Asp) rs117498128 0.00693
NM_152594.3(SPRED1):c.-244T>C rs138385793 0.00693
NM_000075.4(CDK4):c.696G>A (p.Leu232=) rs2227953 0.00692
NM_001371986.1(UNC80):c.391C>T (p.Arg131Trp) rs35822936 0.00692
NM_001080432.3(FTO):c.1002T>C (p.Ile334=) rs148109727 0.00691
NM_001378964.1(CDON):c.*1671G>A rs7940762 0.00691
NM_014704.4(CEP104):c.1836+14G>A rs75027831 0.00691
NM_145020.5(CFAP53):c.615G>C (p.Trp205Cys) rs113161381 0.00691
NM_000075.4(CDK4):c.447A>G (p.Thr149=) rs2069501 0.00690
NM_001276345.2(TNNT2):c.200-29C>G rs45449197 0.00690
NM_001365276.2(TNXB):c.10554C>T (p.Tyr3518=) rs115065067 0.00690
NM_002618.4(PEX13):c.674A>G (p.Asp225Gly) rs116059308 0.00690
NM_003002.4(SDHD):c.312C>T (p.His104=) rs61734352 0.00690
NM_052985.3(IFT122):c.-210C>A rs148987764 0.00690
NM_152564.5(VPS13B):c.2934+14A>T rs187151724 0.00690
NM_152564.5(VPS13B):c.3203C>T (p.Thr1068Ile) rs61753722 0.00690
NM_206937.2(LIG4):c.*104C>G rs2232644 0.00690
NM_000393.5(COL5A2):c.*476T>C rs138670180 0.00689
NM_001329943.3(KIAA0586):c.257T>C (p.Met86Thr) rs74055693 0.00689
NM_001378964.1(CDON):c.*3424T>C rs147791703 0.00689
NM_001931.5(DLAT):c.55G>C (p.Glu19Gln) rs61757217 0.00689
NM_024996.7(GFM1):c.*766G>T rs114751518 0.00689
NM_130837.3(OPA1):c.*623G>A rs146468889 0.00689
NM_012293.3(PXDN):c.4124C>T (p.Thr1375Ile) rs61747875 0.00688
NM_014780.5(CUL7):c.4463T>C (p.Leu1488Pro) rs41274912 0.00688
NM_145020.5(CFAP53):c.798T>A (p.Ile266=) rs113764917 0.00688
NM_152564.5(VPS13B):c.1536A>G (p.Glu512=) rs145969836 0.00688
NM_152564.5(VPS13B):c.1782T>C (p.Ile594=) rs145648860 0.00688
NM_170665.4(ATP2A2):c.1096-16C>T rs56253731 0.00688
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val) rs115960224 0.00687
NM_000393.5(COL5A2):c.249C>T (p.Ala83=) rs142388534 0.00687
NM_001369268.1(ACAN):c.1476C>G (p.Thr492=) rs139042772 0.00687
NM_004239.4(TRIP11):c.4164C>T (p.His1388=) rs140130380 0.00687
NM_000036.3(AMPD1):c.243T>G (p.Thr81=) rs115655141 0.00686
NM_000287.4(PEX6):c.2936C>T (p.Ala979Val) rs115180949 0.00686
NM_002617.4(PEX10):c.685G>C (p.Val229Leu) rs139345520 0.00686
NM_004239.4(TRIP11):c.4507A>G (p.Met1503Val) rs34839498 0.00686
NM_005027.4(PIK3R2):c.415+18dup rs200295171 0.00686
NM_012293.3(PXDN):c.3198C>T (p.Ala1066=) rs115076385 0.00686
NM_018668.5(VPS33B):c.1671A>G (p.Glu557=) rs148071246 0.00686
NM_005996.4(TBX3):c.61C>T (p.Leu21=) rs142592809 0.00685
NM_017617.5(NOTCH1):c.663C>T (p.Pro221=) rs11574872 0.00685
NM_019892.6(INPP5E):c.1770C>T (p.Leu590=) rs143552175 0.00685
NM_022114.4(PRDM16):c.2091A>T (p.Ala697=) rs35184988 0.00685
NM_207361.6(FREM2):c.*4249A>C rs116463058 0.00684
NM_001127649.3(PEX26):c.130C>T (p.Leu44Phe) rs150895887 0.00683
NM_003334.4(UBA1):c.2308A>C (p.Asn770His) rs143044923 0.00683
NM_021625.5(TRPV4):c.1341C>T (p.His447=) rs57316123 0.00683
NM_000036.3(AMPD1):c.1464G>A (p.Glu488=) rs80266556 0.00682
NM_000093.5(COL5A1):c.1566G>A (p.Leu522=) rs61737941 0.00682
NM_001024630.4(RUNX2):c.*1919C>T rs6912472 0.00682
NM_001148.6(ANK2):c.2377-8C>T rs139893914 0.00682
NM_004239.4(TRIP11):c.2217T>C (p.Tyr739=) rs35009380 0.00682
NM_006918.5(SC5D):c.*2662G>A rs7125671 0.00682
NM_000124.4(ERCC6):c.1146G>A (p.Glu382=) rs4253045 0.00681
NM_004273.5(CHST3):c.108C>G (p.Val36=) rs77124584 0.00681
NM_004387.4(NKX2-5):c.861C>T (p.Ala287=) rs77612903 0.00681
NM_000088.4(COL1A1):c.904-9G>T rs141726413 0.00680
NM_021926.4(ALX4):c.*1345G>A rs113781536 0.00680
NM_032273.4(TMEM126A):c.395+5G>A rs115906592 0.00680
NM_145068.4(TRPV3):c.*3307G>A rs17822789 0.00680
NM_000089.4(COL1A2):c.3018C>T (p.Gly1006=) rs62001059 0.00679
NM_000789.4(ACE):c.656-9C>T rs12720734 0.00679
NM_001082486.2(ACD):c.923G>A (p.Gly308Glu) rs147189192 0.00679
NM_003002.4(SDHD):c.149A>G (p.His50Arg) rs11214077 0.00679
NM_006031.6(PCNT):c.7398G>A (p.Glu2466=) rs114739559 0.00679
NM_006031.6(PCNT):c.7914-5C>T rs114120845 0.00679
NM_030632.3(ASXL3):c.6200T>G (p.Leu2067Arg) rs144534810 0.00679
NM_032444.4(SLX4):c.2924C>T (p.Pro975Leu) rs114472821 0.00679
NM_000093.5(COL5A1):c.5136+40A>G rs183298179 0.00678
NM_000264.5(PTCH1):c.2183C>T (p.Thr728Met) rs115556836 0.00678
NM_000287.4(PEX6):c.210G>A (p.Gly70=) rs398123304 0.00678
NM_000789.4(ACE):c.847+12G>A rs12709422 0.00678
NM_012330.4(KAT6B):c.3649G>T (p.Ala1217Ser) rs57372986 0.00678
NM_025114.4(CEP290):c.2827A>G (p.Ile943Val) rs75220808 0.00678
NM_000233.4(LHCGR):c.1010T>C (p.Leu337Ser) rs61996314 0.00677
NM_000264.5(PTCH1):c.1119C>T (p.Tyr373=) rs2066831 0.00677
NM_002334.4(LRP4):c.997G>A (p.Gly333Arg) rs61744209 0.00677
NM_004304.5(ALK):c.2175C>T (p.Ile725=) rs57881134 0.00677
NM_005529.7(HSPG2):c.9719C>T (p.Ala3240Val) rs62642505 0.00677
NM_006147.4(IRF6):c.*479T>G rs75012801 0.00677
NM_022458.4(LMBR1):c.424-237A>G rs115905286 0.00677
NM_000219.6(KCNE1):c.84G>A (p.Ser28=) rs17173510 0.00676
NM_001358530.2(MOCS1):c.*1405G>C rs3749998 0.00676
NM_005045.4(RELN):c.6078C>T (p.Asn2026=) rs79610081 0.00676
NM_153717.3(EVC):c.780G>A (p.Lys260=) rs41269555 0.00676
NM_000112.4(SLC26A2):c.*1552G>C rs143723917 0.00675
NM_001378964.1(CDON):c.*3777G>A rs74527873 0.00675
NM_002386.4(MC1R):c.464T>C (p.Ile155Thr) rs1110400 0.00675
NM_025136.4(OPA3):c.*5905G>A rs116705343 0.00675
NM_033159.4(HYAL1):c.*221T>C rs192692460 0.00675
NM_000264.5(PTCH1):c.1074T>C (p.His358=) rs2066832 0.00674
NM_000512.5(GALNS):c.1003-42C>T rs139088253 0.00674
NM_001148.6(ANK2):c.2178+18C>T rs45447896 0.00674
NM_001999.4(FBN2):c.728T>C (p.Ile243Thr) rs117524265 0.00674
NM_004614.5(TK2):c.449+14A>C rs144627957 0.00674
NM_006907.4(PYCR1):c.540+11C>T rs149159844 0.00674
NM_000124.4(ERCC6):c.*1872C>T rs115281814 0.00673
NM_000264.5(PTCH1):c.*1066A>C rs185406054 0.00673
NM_001042492.3(NF1):c.3496+19T>C rs9890283 0.00673
NM_001374828.1(ARID1B):c.2137-3T>A rs116661275 0.00673
NM_005633.4(SOS1):c.*3458A>C rs114232209 0.00673
NM_021625.5(TRPV4):c.2433G>C (p.Ser811=) rs34071623 0.00673
NM_001358530.2(MOCS1):c.*1113T>G rs3828937 0.00672
NM_012463.4(ATP6V0A2):c.1872G>A (p.Leu624=) rs73420342 0.00672
NM_080680.3(COL11A2):c.1098G>A (p.Ala366=) rs73741539 0.00672
NM_147127.5(EVC2):c.1198A>G (p.Thr400Ala) rs138972736 0.00672
NM_000719.7(CACNA1C):c.3049-126C>T rs112427283 0.00670
NM_004629.2(FANCG):c.988C>T (p.Pro330Ser) rs4986940 0.00670
NM_016955.4(SEPSECS):c.*3775A>G rs115004931 0.00670
NM_030632.3(ASXL3):c.3555T>C (p.Ser1185=) rs61734143 0.00670
NM_130837.3(OPA1):c.*1031A>T rs114606850 0.00670
NM_000719.7(CACNA1C):c.3945+212C>T rs143713629 0.00669
NM_000789.4(ACE):c.2382G>A (p.Ala794=) rs61738817 0.00669
NM_001378615.1(CC2D2A):c.541-20T>G rs114335547 0.00669
NM_005529.7(HSPG2):c.7296A>T (p.Ala2432=) rs2229485 0.00669
NM_015634.4(KIFBP):c.68A>G (p.Glu23Gly) rs148768851 0.00669
NM_022095.4(ZNF335):c.3180C>T (p.Pro1060=) rs61729182 0.00669
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met) rs2230896 0.00668
NM_002541.4(OGDH):c.164C>T (p.Ser55Leu) rs2230445 0.00668
NM_004525.3(LRP2):c.2024T>C (p.Val675Ala) rs116332504 0.00668
NM_005996.4(TBX3):c.*571C>G rs3741697 0.00668
NM_025136.4(OPA3):c.*6767G>A rs142898530 0.00668
NM_001329943.3(KIAA0586):c.1439C>T (p.Thr480Ile) rs61745119 0.00667
NM_000108.5(DLD):c.34G>A (p.Ala12Thr) rs75077312 0.00666
NM_000192.3(TBX5):c.-545C>T rs115599823 0.00666
NM_001080432.3(FTO):c.*2442A>T rs114255834 0.00666
NM_000197.2(HSD17B3):c.195G>A (p.Ser65=) rs2066478 0.00665
NM_000208.4(INSR):c.*2502A>G rs149795309 0.00665
NM_018136.5(ASPM):c.3742-10T>G rs41299587 0.00665
NM_000208.4(INSR):c.*1089A>G rs116422284 0.00664
NM_000208.4(INSR):c.2683-5C>T rs41306363 0.00664
NM_001104631.2(PDE4D):c.*4398T>G rs74874819 0.00664
NM_001271938.2(MEGF8):c.5634C>T (p.Arg1878=) rs62648096 0.00664
NM_001365951.3(KIF1B):c.*4894T>C rs77885116 0.00664
NM_001369268.1(ACAN):c.1469C>T (p.Ser490Leu) rs117116488 0.00664
NM_005529.7(HSPG2):c.9732C>T (p.His3244=) rs74782938 0.00664
NM_006364.4(SEC23A):c.1092C>T (p.Pro364=) rs77375580 0.00664
NM_000264.5(PTCH1):c.3567C>T (p.Gly1189=) rs62637630 0.00663
NM_000489.6(ATRX):c.5579A>G (p.Asn1860Ser) rs45439799 0.00663
NM_020745.4(AARS2):c.*926C>T rs76458008 0.00663
NM_021926.4(ALX4):c.*3012C>G rs117877500 0.00663
NM_024426.6(WT1):c.785-20G>T rs5030168 0.00663
NM_000183.3(HADHB):c.830A>G (p.Lys277Arg) rs57969630 0.00662
NM_001985.3(ETFB):c.438+20C>T rs114985874 0.00662
NM_203486.3(DLL3):c.1562C>T (p.Ser521Phe) rs191149379 0.00662
NM_000789.4(ACE):c.2187G>T (p.Arg729=) rs35553988 0.00661
NM_003738.5(PTCH2):c.1371+8A>G rs187485698 0.00661
NM_014141.6(CNTNAP2):c.*2670T>G rs116187496 0.00661
NM_022095.4(ZNF335):c.3489T>C (p.Thr1163=) rs116077790 0.00661
NM_181523.3(PIK3R1):c.1118+11G>A rs140892282 0.00661
NM_000183.3(HADHB):c.780C>T (p.Leu260=) rs7607527 0.00660
NM_000183.3(HADHB):c.891C>T (p.Ile297=) rs56902571 0.00660
NM_001083962.2(TCF4):c.-125C>T rs551645393 0.00660
NM_022369.4(STRA6):c.1771G>A (p.Ala591Thr) rs115331762 0.00660
NM_022369.4(STRA6):c.1840+12C>T rs118056606 0.00660
NM_005592.4(MUSK):c.1189T>C (p.Tyr397His) rs79843573 0.00659
NM_020247.5(COQ8A):c.*727C>T rs16846762 0.00659
NM_030957.4(ADAMTS10):c.3193G>A (p.Gly1065Ser) rs80046653 0.00659
NM_001010867.4(IBA57):c.462C>T (p.His154=) rs148398789 0.00658
NM_014704.4(CEP104):c.552A>T (p.Glu184Asp) rs61745578 0.00658
NM_020247.5(COQ8A):c.655+9G>A rs146526153 0.00658
NM_022114.4(PRDM16):c.38-15C>T rs9662053 0.00658
NM_025074.7(FRAS1):c.4143T>C (p.Leu1381=) rs113301188 0.00658
NM_000036.3(AMPD1):c.552T>C (p.Phe184=) rs35197706 0.00657
NM_000719.7(CACNA1C):c.4232+302C>T rs114742504 0.00657
NM_001106.4(ACVR2B):c.1075-5C>T rs115155428 0.00657
NM_005529.7(HSPG2):c.5755C>T (p.Arg1919Cys) rs2229474 0.00657
NM_014140.4(SMARCAL1):c.341G>A (p.Arg114His) rs11555797 0.00657
NM_014704.4(CEP104):c.1363C>T (p.Leu455=) rs115015364 0.00657
NM_014704.4(CEP104):c.177G>A (p.Leu59=) rs79859848 0.00657
NM_018127.7(ELAC2):c.368-4T>A rs139778647 0.00657
NM_001203.3(BMPR1B):c.-129A>G rs148290279 0.00656
NM_001378615.1(CC2D2A):c.3509G>A (p.Arg1170Lys) rs61734948 0.00656
NM_018136.5(ASPM):c.3741+3A>G rs138558822 0.00656
NM_001042492.3(NF1):c.6393C>T (p.His2131=) rs17881788 0.00655
NM_005633.4(SOS1):c.1074+5G>C rs145155424 0.00655
NM_014704.4(CEP104):c.1386A>G (p.Leu462=) rs76234817 0.00655
NM_000138.5(FBN1):c.*2153A>G rs116443051 0.00654
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954 0.00654
NM_005982.4(SIX1):c.-137C>T rs139621918 0.00654
NM_013275.6(ANKRD11):c.6106G>A (p.Asp2036Asn) rs201636725 0.00654
NM_020745.4(AARS2):c.1752G>A (p.Glu584=) rs78525157 0.00653
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_000348.4(SRD5A2):c.*259T>C rs61750400 0.00652
NM_000719.7(CACNA1C):c.758-38G>A rs148596266 0.00652
NM_003850.3(SUCLA2):c.*581T>G rs74615692 0.00652
NM_005996.4(TBX3):c.*1264C>G rs146480305 0.00652
NM_012463.4(ATP6V0A2):c.117+14G>A rs144930749 0.00652
NM_152564.5(VPS13B):c.6977G>A (p.Arg2326Gln) rs61754113 0.00651
NM_003413.4(ZIC3):c.649C>G (p.Pro217Ala) rs104894963 0.00650
NM_007055.4(POLR3A):c.3279C>T (p.Asp1093=) rs77540138 0.00650
NM_147127.5(EVC2):c.2707-5T>C rs186058156 0.00650
NM_002617.4(PEX10):c.318G>A (p.Leu106=) rs146452560 0.00649
NM_003482.4(KMT2D):c.7144C>T (p.Pro2382Ser) rs3741626 0.00649
NM_003738.5(PTCH2):c.1080G>T (p.Val360=) rs11573579 0.00649
NM_032444.4(SLX4):c.1803G>A (p.Ser601=) rs144892556 0.00649
NM_000789.4(ACE):c.*505C>G rs111618613 0.00648
NM_005045.4(RELN):c.9524A>C (p.His3175Pro) rs74513461 0.00648
NM_017617.5(NOTCH1):c.5019-13A>G rs148002954 0.00648
NM_020529.3(NFKBIA):c.548-3C>T rs2233418 0.00648
NM_025074.7(FRAS1):c.10598G>A (p.Arg3533Gln) rs115878217 0.00648
NM_000090.4(COL3A1):c.1816-19T>C rs114299724 0.00647
NM_000199.5(SGSH):c.522C>T (p.Tyr174=) rs147064455 0.00647
NM_000286.3(PEX12):c.867C>T (p.Asp289=) rs138720627 0.00647
NM_001378964.1(CDON):c.3559C>T (p.Arg1187Cys) rs150174788 0.00647
NM_002834.5(PTPN11):c.*3043C>T rs41307084 0.00647
NM_004304.5(ALK):c.2133C>T (p.Ser711=) rs77102810 0.00647
NM_006031.6(PCNT):c.8924T>C (p.Leu2975Pro) rs35881595 0.00647
NM_023110.3(FGFR1):c.-358C>T rs17175673 0.00647
NM_145861.4(EDARADD):c.*1887G>A rs114783553 0.00647
NM_170665.4(ATP2A2):c.2628A>G (p.Lys876=) rs149324360 0.00647
NM_001429.4(EP300):c.631G>A (p.Gly211Ser) rs142030651 0.00646
NM_002834.5(PTPN11):c.*3006G>A rs141870860 0.00646
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser) rs34135067 0.00646
NM_030777.4(SLC2A10):c.*809C>T rs114681513 0.00646
NM_000428.3(LTBP2):c.3333G>A (p.Thr1111=) rs61729544 0.00645
NM_012233.3(RAB3GAP1):c.*992G>A rs11558414 0.00645
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu) rs80340744 0.00645
NM_017617.5(NOTCH1):c.5168-10G>A rs199903655 0.00645
NM_001351132.2(PEX5):c.1632G>A (p.Ala544=) rs115338343 0.00644
NM_001378615.1(CC2D2A):c.1519A>G (p.Lys507Glu) rs144439937 0.00644
NM_006031.6(PCNT):c.7656C>T (p.Arg2552=) rs61735819 0.00644
NM_016955.4(SEPSECS):c.935-5T>G rs2302564 0.00644
NM_022458.4(LMBR1):c.*2489T>C rs191993720 0.00644
NM_153281.2(HYAL1):c.-272C>T rs139571382 0.00643
NM_000208.4(INSR):c.*3786G>C rs115012090 0.00642
NM_000238.4(KCNH2):c.1558-5C>T rs114186001 0.00642
NM_000719.7(CACNA1C):c.3558+314A>G rs114079872 0.00642
NM_001127671.2(LIFR):c.1991C>T (p.Ser664Leu) rs3729744 0.00642
NM_001267550.2(TTN):c.48727C>T (p.Pro16243Ser) rs72677242 0.00641
NM_002470.4(MYH3):c.3592G>A (p.Ala1198Thr) rs61735358 0.00641
NM_000925.3(PDHB):c.-26G>A rs201243189 0.00640
NM_001080432.3(FTO):c.*931C>A rs116372569 0.00640
NM_001271938.2(MEGF8):c.8337C>T (p.Gly2779=) rs115428796 0.00640
NM_003482.4(KMT2D):c.8046+11A>G rs145186737 0.00640
NM_003722.5(TP63):c.*1343T>C rs35659283 0.00640
NM_004393.6(DAG1):c.259A>G (p.Ile87Val) rs116717961 0.00640
NM_006031.6(PCNT):c.6986C>G (p.Pro2329Arg) rs35848602 0.00640
NM_020975.6(RET):c.*330A>G rs141460872 0.00640
NM_022166.4(XYLT1):c.1743G>A (p.Pro581=) rs34653270 0.00640
NM_000082.4(ERCC8):c.504A>G (p.Val168=) rs35366433 0.00639
NM_004064.5(CDKN1B):c.*501G>A rs4251697 0.00638
NM_015335.5(MED13L):c.1590C>T (p.Ala530=) rs114269768 0.00638
NM_017617.5(NOTCH1):c.6777T>C (p.Gly2259=) rs61751490 0.00638
NM_030632.3(ASXL3):c.3324T>G (p.Ala1108=) rs77617474 0.00638
NM_032444.4(SLX4):c.1755C>T (p.Pro585=) rs114016359 0.00638
NM_139125.4(MASP1):c.1090+2877G>A rs113938200 0.00638
NM_003611.3(OFD1):c.714T>C (p.Tyr238=) rs139848884 0.00637
NM_020774.4(MIB1):c.1479+18A>G rs12605999 0.00637
NM_152564.5(VPS13B):c.10049C>T (p.Thr3350Ile) rs138127778 0.00637
NM_170707.4(LMNA):c.612G>A (p.Leu204=) rs12117552 0.00637
NM_000489.6(ATRX):c.1633C>G (p.Gln545Glu) rs35738915 0.00636
NM_002968.3(SALL1):c.3222G>A (p.Ala1074=) rs61731131 0.00636
NM_004614.5(TK2):c.94C>T (p.Arg32Trp) rs200121712 0.00636
NM_000093.5(COL5A1):c.*283G>A rs114171895 0.00635
NM_001384732.1(CPLANE1):c.4134T>C (p.Pro1378=) rs79935028 0.00635
NM_001999.4(FBN2):c.8154C>T (p.Leu2718=) rs34119447 0.00635
NM_005751.5(AKAP9):c.3827G>A (p.Arg1276Gln) rs146797353 0.00635
NM_012293.3(PXDN):c.1805C>T (p.Ser602Leu) rs73910815 0.00635
NM_021926.4(ALX4):c.*2507G>A rs75369525 0.00635
NM_022370.4(ROBO3):c.726G>C (p.Ala242=) rs115272137 0.00635
NM_000093.5(COL5A1):c.1062C>T (p.Asp354=) rs61737708 0.00634
NM_006412.4(AGPAT2):c.809C>T (p.Ala270Val) rs142417583 0.00634
NM_015311.3(OBSL1):c.3003C>T (p.Ala1001=) rs150691758 0.00634
NM_022114.4(PRDM16):c.2673G>A (p.Pro891=) rs3819970 0.00634
NM_194318.4(B3GLCT):c.*2188T>A rs60022887 0.00634
NM_152419.3(HGSNAT):c.1693G>C (p.Gly565Arg) rs148632988 0.00633
NM_001083962.2(TCF4):c.*4088T>C rs182171482 0.00632
NM_001367624.2(ZNF469):c.1471G>A (p.Ala491Thr) rs117555121 0.00632
NM_024665.7(TBL1XR1):c.669A>G (p.Pro223=) rs61750378 0.00631
NM_032634.4(PIGO):c.1120-15C>A rs77344591 0.00631
NM_000090.4(COL3A1):c.*592T>A rs115345151 0.00630
NM_003611.3(OFD1):c.1020G>A (p.Glu340=) rs5979959 0.00630
NM_152564.5(VPS13B):c.2451T>C (p.His817=) rs114120664 0.00630
NM_152594.3(SPRED1):c.583-7A>G rs115970207 0.00630
NM_000503.6(EYA1):c.-191C>G rs55694100 0.00629
NM_000789.4(ACE):c.231G>A (p.Ala77=) rs184457276 0.00629
NM_025074.7(FRAS1):c.688-13T>C rs144657066 0.00629
NM_000264.5(PTCH1):c.*3157G>A rs118174136 0.00628
NM_000540.3(RYR1):c.14589C>T (p.Phe4863=) rs146072491 0.00628
NM_003119.4(SPG7):c.1936+12C>T rs112379588 0.00628
NM_005529.7(HSPG2):c.2357A>G (p.Asn786Ser) rs143736974 0.00628
NM_000302.4(PLOD1):c.975+13C>T rs79345327 0.00627
NM_000553.6(WRN):c.1953C>T (p.Gly651=) rs11574263 0.00627
NM_003722.5(TP63):c.*2139G>A rs35356690 0.00627
NM_005732.4(RAD50):c.3037-3T>C rs115737081 0.00627
NM_021926.4(ALX4):c.*1131T>C rs10458913 0.00627
NM_000262.3(NAGA):c.*170G>A rs142863061 0.00626
NM_005529.7(HSPG2):c.3056C>T (p.Pro1019Leu) rs62642528 0.00626
NM_001002755.4(NFU1):c.-6A>G rs116604978 0.00625
NM_001113378.2(FANCI):c.3525C>A (p.Ala1175=) rs114810692 0.00625
NM_001291415.2(KDM6A):c.1897A>G (p.Thr633Ala) rs34922269 0.00625
NM_001379286.1(ZNF423):c.3164C>T (p.Ala1055Val) rs111229124 0.00625
NM_001382391.1(CSPP1):c.3220+13A>G rs139491415 0.00625
NM_003070.5(SMARCA2):c.*138C>T rs75720779 0.00625
NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val) rs2020957 0.00625
NM_016955.4(SEPSECS):c.*2123A>G rs142960382 0.00625
NM_017780.4(CHD7):c.6111C>T (p.Pro2037=) rs41312170 0.00625
NM_022356.4(P3H1):c.2055+193G>A rs116577636 0.00625
NM_001083614.2(EARS2):c.402C>T (p.Thr134=) rs116657756 0.00624
NM_001378964.1(CDON):c.2051C>G (p.Thr684Ser) rs145983470 0.00624
NM_003850.3(SUCLA2):c.45C>T (p.Thr15=) rs35899901 0.00624
NC_000007.14:g.156779444C>G rs188992894 0.00623
NM_003036.4(SKI):c.1974C>T (p.Arg658=) rs201895384 0.00623
NM_006265.3(RAD21):c.1242T>G (p.Asp414Glu) rs75160167 0.00623
NM_001040436.3(YARS2):c.1103+18T>C rs190343859 0.00622
NM_012463.4(ATP6V0A2):c.*3000G>A rs183891010 0.00622
NM_002470.4(MYH3):c.453C>T (p.Ala151=) rs7214436 0.00621
NM_000071.3(CBS):c.1145+7C>T rs201158177 0.00620
NM_001379081.2(FREM1):c.4727A>T (p.Asn1576Ile) rs2101770 0.00620
NM_005522.5(HOXA1):c.*1090C>T rs7786554 0.00620
NM_000287.4(PEX6):c.2770G>T (p.Ala924Ser) rs34551839 0.00619
NM_000404.4(GLB1):c.793-19C>T rs114082733 0.00619
NM_006371.5(CRTAP):c.*3464A>C rs144325894 0.00619
NM_000214.3(JAG1):c.2459-17A>C rs35891274 0.00618
NM_001271938.2(MEGF8):c.357G>A (p.Leu119=) rs115536529 0.00618
NM_004415.4(DSP):c.1481A>T (p.Tyr494Phe) rs28763961 0.00618
NM_014846.4(WASHC5):c.3319G>A (p.Val1107Met) rs138407503 0.00618
NM_001371623.1(TCOF1):c.3510C>T (p.His1170=) rs116354094 0.00617
NM_033159.4(HYAL1):c.1277C>G (p.Ala426Gly) rs142342237 0.00617
NM_000503.6(EYA1):c.*102T>G rs139109847 0.00616
NM_001999.4(FBN2):c.629-9A>G rs56025995 0.00616
NM_018082.6(POLR3B):c.*582C>G rs75217257 0.00616
NM_021252.4(RAB18):c.-83C>A rs115326586 0.00616
NM_000071.3(CBS):c.573G>A (p.Thr191=) rs73906420 0.00615
NM_004304.5(ALK):c.1464C>T (p.Gly488=) rs56165377 0.00615
NM_000233.4(LHCGR):c.622G>A (p.Val208Ile) rs61996321 0.00614
NM_020529.3(NFKBIA):c.-66G>A rs2273651 0.00614
NM_000089.4(COL1A2):c.1036-12A>G rs41316929 0.00613
NM_020779.4(WDR35):c.*1406A>G rs10197681 0.00613
NM_145068.4(TRPV3):c.*1950C>T rs148037085 0.00613
NM_001148.6(ANK2):c.1881+8C>G rs74976371 0.00612
NM_001148.6(ANK2):c.1995A>G (p.Pro665=) rs45442693 0.00612
NM_003924.4(PHOX2B):c.*80G>A rs75913938 0.00612
NM_004380.3(CREBBP):c.5988C>T (p.Ala1996=) rs181646656 0.00612
NM_032444.4(SLX4):c.90C>T (p.Ser30=) rs118089506 0.00612
NM_001278689.2(EOGT):c.620+17G>A rs144884919 0.00611
NM_004525.3(LRP2):c.923-6G>A rs144147038 0.00611
NM_005751.5(AKAP9):c.11331-11A>T rs115270109 0.00611
NM_005529.7(HSPG2):c.10045C>G (p.Leu3349Val) rs75843082 0.00610
NM_015634.4(KIFBP):c.518T>C (p.Met173Thr) rs62625033 0.00610
NM_032043.3(BRIP1):c.*2538G>A rs150080122 0.00610
NM_000789.4(ACE):c.2550C>G (p.Leu850=) rs4975 0.00609
NM_001114753.3(ENG):c.1932C>T (p.Ile644=) rs181330955 0.00609
NM_007254.4(PNKP):c.*15C>T rs1050332 0.00609
NM_012293.3(PXDN):c.1242G>A (p.Ala414=) rs111448491 0.00609
NM_014141.6(CNTNAP2):c.3633G>A (p.Glu1211=) rs138477292 0.00609
NM_021926.4(ALX4):c.*266T>G rs60998360 0.00609
NM_000090.4(COL3A1):c.2035G>A (p.Ala679Thr) rs41263773 0.00608
NM_000214.3(JAG1):c.2573-16C>T rs112196689 0.00608
NM_001148.6(ANK2):c.1245A>G (p.Glu415=) rs34145832 0.00608
NM_001360.3(DHCR7):c.1092G>A (p.Thr364=) rs35946774 0.00608
NM_017866.6(TMEM70):c.*502C>A rs76016906 0.00608
NM_152564.5(VPS13B):c.9349A>G (p.Ser3117Gly) rs113671330 0.00608
NM_001122681.2(SH3BP2):c.*5747T>G rs150474347 0.00607
NM_005105.5(RBM8A):c.68-6T>C rs112273321 0.00607
NM_007055.4(POLR3A):c.3645C>T (p.Asp1215=) rs147591223 0.00606
NM_032520.5(GNPTG):c.255G>A (p.Pro85=) rs76594024 0.00606
NM_138959.3(VANGL1):c.*1627A>G rs149888685 0.00606
NM_145068.4(TRPV3):c.*2610C>T rs142359012 0.00606
NM_001106.4(ACVR2B):c.*8187G>A rs116523268 0.00605
NM_001367624.2(ZNF469):c.4421C>T (p.Ala1474Val) rs199897247 0.00605
NM_006796.3(AFG3L2):c.-71C>T rs571340907 0.00605
NM_022725.4(FANCF):c.373G>A (p.Asp125Asn) rs61752920 0.00605
NM_194318.4(B3GLCT):c.*637A>G rs149604950 0.00605
NM_006031.6(PCNT):c.5771C>T (p.Ala1924Val) rs184420466 0.00604
NM_001122630.2(CDKN1C):c.-11+61G>A rs188494894 0.00603
NM_001032386.2(SUOX):c.-107C>T rs114410290 0.00602
NM_001271938.2(MEGF8):c.4713C>T (p.Ala1571=) rs149279834 0.00602
NM_004560.4(ROR2):c.*886G>T rs114078962 0.00602
NM_012233.3(RAB3GAP1):c.913A>G (p.Ile305Val) rs116775947 0.00602
NM_014008.5(CCDC22):c.1288G>A (p.Ala430Thr) rs144632022 0.00602
NM_015559.3(SETBP1):c.1879C>T (p.Arg627Cys) rs146193261 0.00602
NM_206937.2(LIG4):c.*3del rs551263548 0.00602
NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg) rs34592408 0.00601
NM_000256.3(MYBPC3):c.2686G>A (p.Val896Met) rs35078470 0.00601
NM_001367561.1(DOCK7):c.4696G>A (p.Gly1566Ser) rs147103646 0.00601
NM_003611.3(OFD1):c.2929-18C>T rs180940027 0.00601
NM_194318.4(B3GLCT):c.*1197A>T rs147350414 0.00601
NM_000428.3(LTBP2):c.4089C>T (p.Asn1363=) rs141318496 0.00600
NM_002474.3(MYH11):c.3949C>A (p.Leu1317Ile) rs141159831 0.00600
NM_004260.4(RECQL4):c.2415C>T (p.Ala805=) rs34735741 0.00600
NM_015311.3(OBSL1):c.4363T>C (p.Leu1455=) rs78420199 0.00600
NM_001122681.2(SH3BP2):c.*3078G>A rs189935340 0.00599
NM_001999.4(FBN2):c.8347G>C (p.Glu2783Gln) rs76756898 0.00599
NM_007055.4(POLR3A):c.2938A>G (p.Ile980Val) rs146253630 0.00599
NM_020745.4(AARS2):c.2007+8C>T rs150125794 0.00599
NM_206937.2(LIG4):c.1798G>A (p.Glu600Lys) rs61731910 0.00599
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser) rs61739195 0.00598
NM_001122681.2(SH3BP2):c.*2804G>A rs545230689 0.00598
NM_000143.4(FH):c.53C>T (p.Pro18Leu) rs201887750 0.00597
NM_003070.5(SMARCA2):c.*726T>C rs28374302 0.00597
NM_004560.4(ROR2):c.717C>T (p.Cys239=) rs56302651 0.00597
NM_207361.6(FREM2):c.2978A>G (p.Glu993Gly) rs61742843 0.00597
NM_000203.5(IDUA):c.296C>T (p.Thr99Ile) rs147490060 0.00596
NM_000512.5(GALNS):c.1438G>T (p.Val480Phe) rs151296605 0.00596
NM_001365999.1(SZT2):c.6543A>G (p.Leu2181=) rs112461557 0.00596
NM_004168.4(SDHA):c.17G>A (p.Gly6Asp) rs187964306 0.00596
NM_006031.6(PCNT):c.8646G>C (p.Leu2882Phe) rs141771795 0.00596
NM_000088.4(COL1A1):c.*1175T>G rs75713851 0.00595
NM_022725.4(FANCF):c.557C>T (p.Ala186Val) rs113910234 0.00595
NM_001365276.2(TNXB):c.7297G>A (p.Val2433Ile) rs17207902 0.00594
NM_001386795.1(DTNA):c.1438C>A (p.Pro480Thr) rs77320474 0.00593
NM_000020.3(ACVRL1):c.*423C>T rs114741844 0.00592
NM_004782.4(SNAP29):c.*2892C>T rs546755935 0.00592
NM_139057.4(ADAMTS17):c.2700G>A (p.Thr900=) rs149373184 0.00592
NM_152594.3(SPRED1):c.*427A>T rs185290497 0.00592
NM_001254.4(CDC6):c.896C>T (p.Thr299Met) rs4135013 0.00591
NM_001367561.1(DOCK7):c.6381-19C>T rs146910328 0.00591
NM_001374828.1(ARID1B):c.3106G>A (p.Gly1036Ser) rs34786733 0.00590
NM_004453.4(ETFDH):c.1468+15A>C rs146561214 0.00590
NM_024537.4(CARS2):c.1681A>G (p.Lys561Glu) rs188068027 0.00590
NM_001384732.1(CPLANE1):c.8286C>T (p.Asp2762=) rs114126795 0.00589
NM_016277.5(RAB23):c.301T>G (p.Ser101Ala) rs45479896 0.00589
NM_032043.3(BRIP1):c.206-21T>C rs2048717 0.00589
NM_000112.4(SLC26A2):c.*2780G>A rs9324635 0.00587
NM_001365276.2(TNXB):c.2373C>T (p.Ser791=) rs112581362 0.00587
NM_001367624.2(ZNF469):c.1994C>T (p.Pro665Leu) rs184583062 0.00587
NM_001852.4(COL9A2):c.1053+7C>T rs79627294 0.00587
NM_004415.4(DSP):c.105G>A (p.Gly35=) rs77445784 0.00587
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser) rs114832250 0.00587
NM_017780.4(CHD7):c.309G>A (p.Ser103=) rs115293759 0.00586
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg) rs142645936 0.00585
NM_000719.7(CACNA1C):c.3114G>C (p.Leu1038=) rs114139824 0.00585
NM_001379286.1(ZNF423):c.3061C>T (p.Leu1021=) rs35529066 0.00585
NM_003098.3(SNTA1):c.166C>T (p.Pro56Ser) rs573772189 0.00585
NM_006031.6(PCNT):c.5954C>T (p.Ser1985Phe) rs140398533 0.00585
NM_025114.4(CEP290):c.1558T>C (p.Phe520Leu) rs147371999 0.00585
NM_032043.3(BRIP1):c.*280G>C rs189935192 0.00585
NM_153704.6(TMEM67):c.506+18G>T rs116705535 0.00585
NM_174889.5(NDUFAF2):c.300A>T (p.Ile100=) rs191388646 0.00585
NM_000182.5(HADHA):c.573+8dup rs112196218 0.00584
NM_003282.4(TNNI2):c.150G>A (p.Pro50=) rs139820259 0.00584
NM_003611.3(OFD1):c.1264A>G (p.Lys422Glu) rs61746932 0.00584
NM_000287.4(PEX6):c.813G>T (p.Ala271=) rs35503676 0.00583
NM_000516.7(GNAS):c.366C>T (p.Pro122=) rs35287986 0.00583
NM_001084.5(PLOD3):c.1144G>C (p.Asp382His) rs41281013 0.00583
NM_005751.5(AKAP9):c.9092A>G (p.Gln3031Arg) rs61757673 0.00583
NM_000466.3(PEX1):c.3720C>T (p.His1240=) rs34825053 0.00582
NM_001083961.2(WDR62):c.1959-20A>G rs150830386 0.00582
NM_021625.5(TRPV4):c.810G>A (p.Gly270=) rs147558344 0.00582
NM_152383.5(DIS3L2):c.*315G>C rs192296021 0.00582
NM_000093.5(COL5A1):c.*14C>T rs12553247 0.00580
NM_000199.5(SGSH):c.675C>T (p.Phe225=) rs34520362 0.00580
NM_000208.4(INSR):c.618C>T (p.Val206=) rs56012021 0.00580
NM_001330078.2(NRXN1):c.*2372G>A rs116370948 0.00580
NM_000079.4(CHRNA1):c.*218C>T rs79539026 0.00579
NM_001361.5(DHODH):c.*404G>A rs150155845 0.00579
NM_000088.4(COL1A1):c.4113G>A (p.Lys1371=) rs41316723 0.00578
NM_001330078.2(NRXN1):c.3249C>T (p.Pro1083=) rs116236999 0.00578
NM_001394062.1(MACF1):c.14649T>C (p.His4883=) rs79901102 0.00578
NM_004387.4(NKX2-5):c.543G>A (p.Gln181=) rs72554028 0.00578
NM_032634.4(PIGO):c.2432G>A (p.Arg811Gln) rs75579358 0.00578
NM_004304.5(ALK):c.1719C>T (p.Thr573=) rs74830770 0.00577
NM_017780.4(CHD7):c.5051-4C>T rs71640288 0.00577
NM_025114.4(CEP290):c.5237G>A (p.Arg1746Gln) rs61941020 0.00577
NM_130837.3(OPA1):c.420G>T (p.Val140=) rs35801538 0.00577
NM_207034.3(EDN3):c.-77T>A rs11570254 0.00577
NM_022039.4(FBXW4):c.1410T>C (p.Tyr470=) rs35614606 0.00575
NM_024009.3(GJB3):c.*626C>G rs74567877 0.00575
NM_024753.5(TTC21B):c.2322+3A>G rs79037278 0.00575
NM_032444.4(SLX4):c.5501A>G (p.Asn1834Ser) rs111738042 0.00575
NM_000262.3(NAGA):c.*161T>C rs150991002 0.00574
NM_003477.3(PDHX):c.976G>C (p.Val326Leu) rs35560997 0.00574
NM_001151.4(SLC25A4):c.*2476G>A rs76335670 0.00573
NM_001793.6(CDH3):c.996+13C>T rs114408705 0.00573
NM_006031.6(PCNT):c.8752-5A>C rs149444205 0.00573
NM_032043.3(BRIP1):c.1141-94G>T rs114901675 0.00573
NM_207361.6(FREM2):c.*1379T>C rs150619967 0.00573
NM_004415.4(DSP):c.4455G>T (p.Arg1485Ser) rs113902911 0.00572
NM_001367561.1(DOCK7):c.1392A>G (p.Pro464=) rs116172511 0.00571
NM_002880.4(RAF1):c.923C>T (p.Pro308Leu) rs5746220 0.00571
NM_012330.4(KAT6B):c.929-12A>G rs190502446 0.00571
NM_176787.5(PIGN):c.1251+11C>T rs141918272 0.00571
NM_001365951.3(KIF1B):c.*1503C>T rs116167243 0.00570
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=) rs2279582 0.00570
NM_002860.4(ALDH18A1):c.*140C>T rs76824727 0.00570
NM_003036.4(SKI):c.1446G>A (p.Ala482=) rs114345135 0.00570
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys) rs35462421 0.00570
NM_005857.5(ZMPSTE24):c.*59C>A rs193076795 0.00570
NM_014762.4(DHCR24):c.1522G>A (p.Asp508Asn) rs11555496 0.00570
NM_032043.3(BRIP1):c.*616A>G rs116292412 0.00570
NM_147127.5(EVC2):c.1730T>C (p.Met577Thr) rs113869406 0.00570
NM_172201.2(KCNE2):c.-52G>A rs41314699 0.00570
NM_000108.5(DLD):c.*887T>C rs16872396 0.00569
NM_001379081.2(FREM1):c.5466T>C (p.Asp1822=) rs61741992 0.00569
NM_005529.7(HSPG2):c.11671+15C>T rs7515291 0.00569
NM_018082.6(POLR3B):c.2877C>T (p.His959=) rs148708579 0.00569
NM_001159773.2(CANT1):c.*1149C>T rs114706748 0.00568
NM_015338.6(ASXL1):c.2395G>T (p.Asp799Tyr) rs143594454 0.00568
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg) rs17233141 0.00567
NM_000393.5(COL5A2):c.*798A>G rs116775405 0.00567
NM_023110.3(FGFR1):c.345C>T (p.Ser115=) rs2915665 0.00567
NM_152419.3(HGSNAT):c.*477G>A rs76878005 0.00567
NM_181523.3(PIK3R1):c.195A>G (p.Glu65=) rs73768883 0.00567
NM_000089.4(COL1A2):c.948C>T (p.Gly316=) rs34511999 0.00566
NM_004456.5(EZH2):c.728+19G>C rs114692729 0.00566
NM_139057.4(ADAMTS17):c.2591+14T>G rs75585294 0.00566
NM_020964.3(EPG5):c.104G>A (p.Ser35Asn) rs145177562 0.00565
NM_021625.5(TRPV4):c.*423G>A rs151286044 0.00565
NM_004260.4(RECQL4):c.309G>A (p.Pro103=) rs4251688 0.00564
NM_004273.5(CHST3):c.417C>T (p.Ala139=) rs144287889 0.00564
NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=) rs34940368 0.00563
NM_001365951.3(KIF1B):c.*3742T>C rs78868210 0.00563
NM_007373.4(SHOC2):c.1423-7C>T rs180671383 0.00563
NM_022356.4(P3H1):c.1716C>T (p.Ile572=) rs35500164 0.00563
NM_022370.4(ROBO3):c.1189C>A (p.Pro397Thr) rs114572753 0.00563
NM_133459.4(CCBE1):c.*3533C>A rs112059725 0.00563
NM_004239.4(TRIP11):c.*163C>T rs142907939 0.00562
NM_030777.4(SLC2A10):c.*958C>T rs189464814 0.00562
NM_000079.4(CHRNA1):c.1233G>T (p.Glu411Asp) rs61737716 0.00561
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649 0.00561
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile) rs34139502 0.00561
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=) rs35980907 0.00561
NM_032545.4(CFC1):c.484T>C (p.Phe162Leu) rs776829911 0.00561
NM_153717.3(EVC):c.284A>G (p.Asp95Gly) rs41269547 0.00561
NM_001106.4(ACVR2B):c.*476C>T rs79453833 0.00560
NM_002449.5(MSX2):c.*466G>A rs148083483 0.00560
NM_004525.3(LRP2):c.11092G>A (p.Val3698Met) rs34355135 0.00560
NM_012200.4(B3GAT3):c.821C>A (p.Thr274Asn) rs112223093 0.00560
NM_014244.5(ADAMTS2):c.1629+9G>A rs115550684 0.00560
NM_023110.3(FGFR1):c.*2099T>G rs16887356 0.00560
NM_000260.4(MYO7A):c.4074C>T (p.Ser1358=) rs78996818 0.00559
NM_030665.4(RAI1):c.4512G>T (p.Leu1504=) rs117995220 0.00559
NM_000202.8(IDS):c.1269C>T (p.Pro423=) rs61736890 0.00558
NM_001371623.1(TCOF1):c.579G>A (p.Ala193=) rs142965998 0.00558
NM_003119.4(SPG7):c.1937-16C>G rs74590011 0.00558
NM_004239.4(TRIP11):c.3858G>A (p.Gln1286=) rs35798420 0.00558
NM_005045.4(RELN):c.621C>T (p.Asp207=) rs114627891 0.00558
NM_139057.4(ADAMTS17):c.*2453C>T rs141023547 0.00558
NM_000036.3(AMPD1):c.1947T>C (p.Asp649=) rs34287100 0.00557
NM_000135.4(FANCA):c.1359+10C>T rs34159559 0.00557
NM_001083962.2(TCF4):c.*909G>A rs143242430 0.00557
NM_004260.4(RECQL4):c.1395G>A (p.Thr465=) rs34948955 0.00557
NM_004304.5(ALK):c.267C>A (p.Gly89=) rs192127241 0.00557
NM_017617.5(NOTCH1):c.6991G>A (p.Ala2331Thr) rs111309246 0.00557
NM_032634.4(PIGO):c.1473G>C (p.Leu491=) rs76932500 0.00557
NM_000138.5(FBN1):c.2855-9C>T rs140590 0.00556
NM_000719.7(CACNA1C):c.5139C>T (p.Asp1713=) rs115216455 0.00556
NM_001394062.1(MACF1):c.1916G>T (p.Gly639Val) rs139995582 0.00556
NM_002010.3(FGF9):c.-429G>A rs115025644 0.00556
NM_005006.7(NDUFS1):c.2019+18A>T rs55793630 0.00556
NM_020458.4(TTC7A):c.870C>G (p.Val290=) rs144304124 0.00556
NM_000789.4(ACE):c.*894G>A rs78716020 0.00555
NM_024537.4(CARS2):c.1317+10C>T rs141996297 0.00555
NM_032861.4(SERAC1):c.739-10T>G rs118093738 0.00555
NM_000514.4(GDNF):c.*363A>T rs45611434 0.00554
NM_001134363.3(RBM20):c.1364C>T (p.Ser455Leu) rs189569984 0.00554
NM_001365276.2(TNXB):c.1469G>A (p.Arg490Gln) rs118086587 0.00554
NM_002617.4(PEX10):c.332T>C (p.Leu111Pro) rs35426403 0.00554
NM_014423.4(AFF4):c.2397-14G>A rs138999423 0.00554
NM_139057.4(ADAMTS17):c.2171G>A (p.Ser724Asn) rs73474408 0.00554
NM_194318.4(B3GLCT):c.*1516A>G rs876539 0.00554
NM_001282531.3(ADNP):c.1075A>G (p.Ile359Val) rs78300927 0.00553
NM_001378964.1(CDON):c.3588C>T (p.Asp1196=) rs140895899 0.00553
NM_002386.4(MC1R):c.252C>A (p.Asp84Glu) rs1805006 0.00553
NM_013352.4(DSE):c.114C>T (p.Ala38=) rs36061922 0.00553
NM_080680.3(COL11A2):c.3615C>A (p.Asn1205Lys) rs141967872 0.00553
NM_203486.3(DLL3):c.543T>C (p.Pro181=) rs115194365 0.00553
NM_004453.4(ETFDH):c.1533T>C (p.Asp511=) rs77484245 0.00552
NM_016955.4(SEPSECS):c.*454C>T rs77936887 0.00552
NM_024757.5(EHMT1):c.1249-9G>T rs73669157 0.00552
NM_198525.3(KIF7):c.1266C>G (p.Leu422=) rs8030837 0.00552
NM_001379081.2(FREM1):c.3575G>A (p.Arg1192His) rs79023327 0.00551
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln) rs111475461 0.00551
NM_004208.4(AIFM1):c.1833T>C (p.His611=) rs73556209 0.00551
NM_006767.4(LZTR1):c.1209C>T (p.Phe403=) rs145833752 0.00550
NM_001077446.4(TSEN34):c.*175T>C rs77548142 0.00549
NM_002693.3(POLG):c.1024-38C>T rs138069091 0.00549
NM_002860.4(ALDH18A1):c.*56T>A rs114393346 0.00549
NM_000751.3(CHRND):c.1253-8G>A rs144545619 0.00548
NM_001371623.1(TCOF1):c.2762C>T (p.Pro921Leu) rs150515843 0.00548
NM_001371623.1(TCOF1):c.4443+108C>A rs111365835 0.00548
NM_001378964.1(CDON):c.*1061T>C rs114455813 0.00548
NM_003072.5(SMARCA4):c.222+14T>C rs112825147 0.00548
NM_003334.4(UBA1):c.2364C>T (p.Ala788=) rs2228658 0.00548
NM_004565.3(PEX14):c.504G>A (p.Thr168=) rs146781531 0.00548
NM_004782.4(SNAP29):c.*2879C>T rs140626919 0.00548
NM_014141.6(CNTNAP2):c.1247C>T (p.Ala416Val) rs34456867 0.00548
NM_052989.3(IFT122):c.3303G>T (p.Gly1101=) rs111668739 0.00548
NM_000404.4(GLB1):c.756C>T (p.Phe252=) rs142326197 0.00547
NM_001077653.2(TBX20):c.1017A>C (p.Thr339=) rs112054378 0.00547
NM_001379081.2(FREM1):c.45G>T (p.Leu15=) rs61747529 0.00547
NM_002693.3(POLG):c.1984G>A (p.Glu662Lys) rs2307450 0.00547
NM_005188.4(CBL):c.1485G>A (p.Pro495=) rs2229072 0.00547
NM_021625.5(TRPV4):c.1153-10C>T rs149541389 0.00547
NM_000719.7(CACNA1C):c.916+63C>T rs151143736 0.00546
NM_003072.5(SMARCA4):c.1419+7T>C rs112977340 0.00546
NM_005585.5(SMAD6):c.139C>T (p.Pro47Ser) rs368960350 0.00546
NM_000138.5(FBN1):c.1029G>A (p.Gly343=) rs75655780 0.00545
NM_002465.4(MYBPC1):c.608+14A>G rs4448745 0.00545
NM_004782.4(SNAP29):c.*2692C>T rs148419415 0.00545
NM_018714.3(COG1):c.529A>G (p.Ile177Val) rs150001655 0.00545
NM_000182.5(HADHA):c.*561C>T rs115151034 0.00544
NM_001082486.1(ACD):c.162C>T (p.Pro54=) rs73597595 0.00544
NM_002734.5(PRKAR1A):c.*795G>T rs150031305 0.00544
NM_000093.5(COL5A1):c.4231-12G>A rs188473199 0.00543
NM_002465.4(MYBPC1):c.594T>C (p.Ser198=) rs79442861 0.00543
NM_004836.7(EIF2AK3):c.3291A>G (p.Ser1097=) rs10208681 0.00543
NM_006329.4(FBLN5):c.*423T>C rs17731705 0.00543
NM_015631.6(TCTN3):c.630T>C (p.Ala210=) rs41299157 0.00543
NM_001042545.2(LTBP4):c.1441A>G (p.Met481Val) rs116005784 0.00542
NM_002693.3(POLG):c.1636C>T (p.Arg546Cys) rs2307447 0.00542
NM_005585.5(SMAD6):c.711C>T (p.His237=) rs144415105 0.00542
NM_020754.4(ARHGAP31):c.3256G>A (p.Ala1086Thr) rs61744168 0.00542
NM_021625.5(TRPV4):c.1744C>T (p.Leu582=) rs35078611 0.00542
NM_000057.4(BLM):c.2075-12G>T rs28385027 0.00541
NM_003070.5(SMARCA2):c.666A>G (p.Gln222=) rs13296987 0.00541
NM_012082.4(ZFPM2):c.2665C>G (p.Gln889Glu) rs146423225 0.00541
NM_016035.5(COQ4):c.483G>C (p.Glu161Asp) rs141228574 0.00541
NM_017866.6(TMEM70):c.684C>G (p.Asn228Lys) rs35564486 0.00541
NM_020964.3(EPG5):c.3493A>G (p.Ile1165Val) rs61744077 0.00541
NM_145054.5(CFAP52):c.1026-3C>T rs75671790 0.00541
NM_001024630.4(RUNX2):c.*2199A>G rs144977950 0.00540
NM_001104631.2(PDE4D):c.1692A>G (p.Lys564=) rs115807337 0.00540
NM_002485.5(NBN):c.37+11A>G rs115032431 0.00540
NM_017866.6(TMEM70):c.*714G>A rs116019026 0.00540
NM_022370.4(ROBO3):c.1615C>T (p.Arg539Trp) rs139930558 0.00540
NM_000557.5(GDF5):c.349G>T (p.Ala117Ser) rs151149144 0.00539
NM_001148.6(ANK2):c.7831T>C (p.Tyr2611His) rs35338364 0.00539
NM_001814.6(CTSC):c.319-15C>T rs45539936 0.00539
NM_020975.6(RET):c.*1870C>T rs146771196 0.00539
NM_025136.4(OPA3):c.*362T>C rs73942919 0.00539
NM_000719.7(CACNA1C):c.3913-7020C>T rs151235067 0.00538
NM_001148.6(ANK2):c.2278-11G>A rs146312675 0.00538
NM_004273.5(CHST3):c.1347C>T (p.Arg449=) rs200249458 0.00538
NM_005359.6(SMAD4):c.*11C>T rs11663402 0.00538
NM_005585.5(SMAD6):c.1167C>T (p.Phe389=) rs12591946 0.00538
NM_015338.6(ASXL1):c.3513G>A (p.Arg1171=) rs150391716 0.00538
NM_145068.4(TRPV3):c.2278+9G>A rs79589254 0.00538
NM_000335.5(SCN5A):c.1743G>A (p.Ser581=) rs41313687 0.00537
NM_001134831.2(AHI1):c.3579T>C (p.Thr1193=) rs115338154 0.00537
NM_012293.3(PXDN):c.3064G>A (p.Val1022Met) rs79322931 0.00537
NM_018249.6(CDK5RAP2):c.3666A>G (p.Gln1222=) rs77925703 0.00537
NM_022114.4(PRDM16):c.3369C>T (p.Asp1123=) rs370420046 0.00537
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val) rs146496725 0.00537
NM_001082486.2(ACD):c.1207-10C>T rs67185288 0.00536
NM_001122681.2(SH3BP2):c.*736C>T rs79382439 0.00536
NM_003073.5(SMARCB1):c.438A>G (p.Pro146=) rs35105793 0.00536
NM_003477.3(PDHX):c.1331G>A (p.Arg444Lys) rs34398018 0.00536
NM_030632.3(ASXL3):c.1995A>G (p.Arg665=) rs143855418 0.00536
NM_001042545.2(LTBP4):c.891C>T (p.Gly297=) rs374427407 0.00535
NM_001330078.2(NRXN1):c.2421C>T (p.Asn807=) rs115211871 0.00535
NM_001365951.3(KIF1B):c.*3341C>T rs139210251 0.00535
NM_002857.3(PEX19):c.-14T>G rs2301297 0.00535
NM_003073.5(SMARCB1):c.-31C>T rs34276473 0.00535
NM_004813.4(PEX16):c.952+18C>T rs112068553 0.00535
NM_005045.4(RELN):c.*563C>A rs150458916 0.00535
NM_005045.4(RELN):c.1075G>A (p.Val359Ile) rs114926265 0.00535
NM_015338.6(ASXL1):c.1965C>T (p.Thr655=) rs79865730 0.00535
NM_017890.5(VPS13B):c.4197T>C (p.Gly1399=) rs149796549 0.00535
NM_152281.3(GORAB):c.618C>T (p.Leu206=) rs35872826 0.00535
NM_198173.3(GRHL3):c.1363C>G (p.Pro455Ala) rs141193530 0.00535
NM_207361.6(FREM2):c.6330T>G (p.Leu2110=) rs112083916 0.00535
NM_000168.6(GLI3):c.*2715G>A rs193192167 0.00534
NM_001282531.3(ADNP):c.2475G>T (p.Gly825=) rs148502910 0.00534
NM_001330078.2(NRXN1):c.2143+19A>G rs150513096 0.00534
NM_001999.4(FBN2):c.1285A>G (p.Ser429Gly) rs115242287 0.00534
NM_003738.5(PTCH2):c.840T>C (p.Ser280=) rs147627670 0.00534
NM_001329943.3(KIAA0586):c.422T>C (p.Met141Thr) rs61735931 0.00533
NM_022369.4(STRA6):c.91G>A (p.Gly31Ser) rs111489755 0.00533
NM_198525.3(KIF7):c.1885G>A (p.Glu629Lys) rs149814240 0.00533
NM_206937.2(LIG4):c.-101-95G>A rs1805385 0.00533
NM_021926.4(ALX4):c.69G>C (p.Pro23=) rs115968657 0.00532
NM_182943.3(PLOD2):c.1171G>C (p.Val391Leu) rs150981193 0.00532
NM_000108.5(DLD):c.*1074C>G rs149275540 0.00531
NM_182943.3(PLOD2):c.*32T>C rs148862685 0.00531
NM_001082486.2(ACD):c.801C>T (p.Ala267=) rs72549181 0.00530
NM_001371986.1(UNC80):c.3000T>C (p.Cys1000=) rs139128995 0.00530
NM_005921.2(MAP3K1):c.720G>A (p.Ala240=) rs56279792 0.00530
NM_014918.5(CHSY1):c.333G>A (p.Lys111=) rs117481449 0.00530
NM_016204.4(GDF2):c.911C>T (p.Thr304Met) rs75024165 0.00530
NM_001174147.2(LMX1B):c.*173G>A rs181701033 0.00529
NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala) rs11554412 0.00529
NM_004782.4(SNAP29):c.-68A>T rs117593372 0.00529
NM_005055.5(RAPSN):c.193-14G>A rs114738594 0.00529
NM_006129.5(BMP1):c.879C>T (p.Asn293=) rs35120584 0.00529
NM_001367624.2(ZNF469):c.2717C>T (p.Pro906Leu) rs77951481 0.00528
NM_002470.4(MYH3):c.1575C>T (p.Ile525=) rs34695778 0.00528
NM_152564.5(VPS13B):c.7338T>C (p.Phe2446=) rs150771329 0.00528
NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser) rs6413464 0.00527
NM_000218.3(KCNQ1):c.*350G>A rs114877430 0.00527
NM_005219.5(DIAPH1):c.1045-20T>A rs75686999 0.00527
NM_000208.4(INSR):c.1123+13G>T rs72549236 0.00526
NM_001793.6(CDH3):c.*195G>T rs114591853 0.00526
NM_002465.4(MYBPC1):c.*169G>T rs115971493 0.00526
NM_024009.3(GJB3):c.579C>T (p.Gly193=) rs61744512 0.00526
NM_031483.7(ITCH):c.1146A>G (p.Gln382=) rs141828786 0.00526
NM_000393.5(COL5A2):c.3689C>G (p.Thr1230Arg) rs62184175 0.00525
NM_000719.7(CACNA1C):c.3387G>A (p.Thr1129=) rs188224114 0.00525
NM_001018113.3(FANCB):c.*66T>G rs143434225 0.00525
NM_002010.3(FGF9):c.*2634C>T rs190925273 0.00525
NM_004074.3(COX8A):c.111C>A (p.Ile37=) rs61759492 0.00525
NM_207361.6(FREM2):c.6396C>T (p.Phe2132=) rs61745902 0.00525
NM_000218.3(KCNQ1):c.720C>T (p.His240=) rs28730754 0.00524
NM_003640.5(ELP1):c.1721C>T (p.Ala574Val) rs35455790 0.00524
NM_006371.5(CRTAP):c.888C>T (p.Thr296=) rs13637 0.00524
NM_015272.5(RPGRIP1L):c.2925A>G (p.Val975=) rs144313291 0.00524
NM_016955.4(SEPSECS):c.*2840T>C rs144070806 0.00524
NM_206937.2(LIG4):c.915T>C (p.Ser305=) rs2232639 0.00524
NM_213599.3(ANO5):c.2354T>G (p.Leu785Arg) rs146136277 0.00524
NM_002617.4(PEX10):c.6C>G (p.Ala2=) rs112471479 0.00523
NM_000138.5(FBN1):c.6393C>T (p.Cys2131=) rs61730051 0.00522
NM_001374353.1(GLI2):c.3539G>A (p.Gly1180Asp) rs114823319 0.00522
NM_145691.4(ATPAF2):c.511G>A (p.Val171Met) rs62073570 0.00522
NM_147127.5(EVC2):c.814C>T (p.Arg272Trp) rs114142742 0.00521
NM_000168.6(GLI3):c.2802G>A (p.Ala934=) rs61730503 0.00520
NM_005199.5(CHRNG):c.1516C>T (p.Pro506Ser) rs71421651 0.00520
NM_207361.6(FREM2):c.2600C>T (p.Thr867Ile) rs61995710 0.00520
NM_145691.4(ATPAF2):c.*20C>G rs1128069 0.00519
NM_000135.4(FANCA):c.1826+12C>T rs183513839 0.00518
NM_004380.3(CREBBP):c.6685G>A (p.Gly2229Ser) rs139688311 0.00518
NM_012431.3(SEMA3E):c.1722A>T (p.Gly574=) rs61729608 0.00518
NM_025136.4(OPA3):c.*6442A>G rs76825983 0.00518
NM_032043.3(BRIP1):c.-197C>A rs180948389 0.00518
NM_000540.3(RYR1):c.5565C>T (p.Gly1855=) rs61750975 0.00517
NM_001001433.3(STX16):c.557-7G>C rs41276952 0.00517
NM_003172.4(SURF1):c.604G>C (p.Asp202His) rs72619327 0.00517
NM_014314.4(RIGI):c.1737C>T (p.Phe579=) rs116612738 0.00517
NM_015272.5(RPGRIP1L):c.1165A>G (p.Ile389Val) rs79708859 0.00517
NM_000088.4(COL1A1):c.*1233G>A rs73987442 0.00516
NM_000553.6(WRN):c.1725T>C (p.Tyr575=) rs13438802 0.00516
NM_002693.3(POLG):c.1550G>T (p.Gly517Val) rs61752783 0.00516
NM_004565.3(PEX14):c.873C>T (p.His291=) rs115117459 0.00516
NM_006031.6(PCNT):c.6634C>T (p.Arg2212Trp) rs144471022 0.00516
NM_014317.5(PDSS1):c.407T>G (p.Phe136Cys) rs77826284 0.00516
NM_173660.5(DOK7):c.1204C>T (p.Arg402Trp) rs149905649 0.00516
NM_000093.5(COL5A1):c.4393-17C>T rs141152269 0.00515
NM_001106.4(ACVR2B):c.*338C>G rs78458694 0.00515
NM_005045.4(RELN):c.5156C>T (p.Ser1719Leu) rs115913736 0.00515
NM_005359.6(SMAD4):c.*3398A>G rs182735651 0.00515
NM_018127.7(ELAC2):c.1305-9_1305-8insCTC rs370493014 0.00515
NM_080680.3(COL11A2):c.3860A>G (p.Asp1287Gly) rs142962835 0.00515
NM_133459.4(CCBE1):c.*154G>A rs73963210 0.00515
NM_000168.6(GLI3):c.2165A>G (p.Asn722Ser) rs146130351 0.00514
NM_002386.3(MC1R):c.-1092G>A rs58664942 0.00514
NM_005045.4(RELN):c.4937-15A>T rs2711839 0.00514
NM_030777.4(SLC2A10):c.1617G>A (p.Ala539=) rs114974138 0.00514
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890 0.00513
NM_000540.3(RYR1):c.10938-17A>G rs181147531 0.00513
NM_000891.3(KCNJ2):c.*211T>C rs56194813 0.00513
NM_001122681.2(SH3BP2):c.1407-11T>A rs45525837 0.00513
NM_018714.3(COG1):c.2620-10T>G rs144989249 0.00513
NM_058216.3(RAD51C):c.572-17G>T rs193023469 0.00513
NM_145691.4(ATPAF2):c.-147G>A rs75249497 0.00513
NM_147127.5(EVC2):c.2863C>T (p.Arg955Trp) rs116502852 0.00513
NM_000093.5(COL5A1):c.5137-11T>C rs183495554 0.00512
NM_000553.6(WRN):c.1788T>C (p.Ser596=) rs13438803 0.00512
NM_145861.4(EDARADD):c.*285G>A rs142266831 0.00512
NM_147127.5(EVC2):c.1845C>T (p.Thr615=) rs112747818 0.00512
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_000168.6(GLI3):c.2179G>A (p.Gly727Arg) rs121917710 0.00511
NM_001365999.1(SZT2):c.3582T>C (p.Ser1194=) rs140788949 0.00511
NM_032634.4(PIGO):c.2040G>C (p.Leu680=) rs41274877 0.00511
NM_152564.5(VPS13B):c.9592C>T (p.Arg3198Trp) rs149842139 0.00511
NM_005633.4(SOS1):c.2167+6T>G rs186640807 0.00510
NM_021252.5(RAB18):c.*1488A>C rs148630305 0.00510
NM_024996.7(GFM1):c.568A>C (p.Met190Leu) rs75450876 0.00510
NM_000135.4(FANCA):c.21G>T (p.Pro7=) rs115856189 0.00509
NM_000314.6(PTEN):c.-1059C>G rs144620057 0.00509
NM_001374828.1(ARID1B):c.612A>G (p.Gln204=) rs78253128 0.00509
NM_005888.3(SLC25A3):c.-92G>A rs115763433 0.00509
NM_020964.3(EPG5):c.7443-14C>T rs150647938 0.00509
NM_000093.5(COL5A1):c.-37G>A rs374979485 0.00508
NM_000368.5(TSC1):c.*2872G>A rs2106345 0.00508
NM_003072.5(SMARCA4):c.2388C>T (p.Leu796=) rs28997580 0.00508
NM_005857.5(ZMPSTE24):c.990C>T (p.Leu330=) rs116284141 0.00508
NM_024312.5(GNPTAB):c.137G>A (p.Arg46Gln) rs117566084 0.00508
NM_170784.3(MKKS):c.16G>A (p.Ala6Thr) rs150920905 0.00508
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser) rs74315394 0.00508
NM_001814.6(CTSC):c.*279A>G rs146045268 0.00507
NM_005045.4(RELN):c.6084C>T (p.Gly2028=) rs114019779 0.00507
NM_178012.5(TUBB2B):c.703G>A (p.Gly235Arg) rs587784500 0.00507
NM_000052.7(ATP7A):c.610+8G>A rs144616937 0.00506
NM_001122681.2(SH3BP2):c.*3309C>T rs150769529 0.00506
NM_001271938.2(MEGF8):c.8466C>A (p.Gly2822=) rs576629405 0.00506
NM_001271938.2(MEGF8):c.8467A>G (p.Ser2823Gly) rs537269414 0.00506
NM_001278716.2(FBXL4):c.978A>G (p.Gln326=) rs61744041 0.00506
NM_004370.6(COL12A1):c.2481G>A (p.Thr827=) rs35170847 0.00506
NM_004531.5(MOCS2):c.*2651G>T rs150871292 0.00506
NM_012123.4(MTO1):c.1894C>T (p.Leu632=) rs117757245 0.00506
NM_152419.3(HGSNAT):c.*1212C>T rs186132187 0.00506
NM_000501.4(ELN):c.1388A>G (p.Lys463Arg) rs34945509 0.00505
NM_002470.4(MYH3):c.4356+11C>T rs150348272 0.00505
NM_005585.5(SMAD6):c.61G>A (p.Asp21Asn) rs188799901 0.00505
NM_017780.4(CHD7):c.1018A>G (p.Met340Val) rs41305525 0.00505
NM_017837.4(PIGV):c.101C>T (p.Pro34Leu) rs139246652 0.00505
NM_030957.4(ADAMTS10):c.2865+11C>A rs367808475 0.00505
NM_000138.5(FBN1):c.*1580G>A rs17352989 0.00504
NM_000193.4(SHH):c.300+17G>A rs116412905 0.00504
NM_001267550.2(TTN):c.98390A>G (p.Asn32797Ser) rs149001703 0.00504
NM_003052.5(SLC34A1):c.*485G>A rs143160780 0.00504
NM_001044385.3(TMEM237):c.80-11T>C rs76296365 0.00503
NM_001159773.2(CANT1):c.*1476G>A rs73999357 0.00503
NM_001330078.2(NRXN1):c.3933A>G (p.Ala1311=) rs79970751 0.00503
NM_005359.6(SMAD4):c.*3662C>T rs114852346 0.00503
NM_017617.5(NOTCH1):c.7209G>A (p.Gln2403=) rs61751486 0.00503
NM_020754.4(ARHGAP31):c.384G>C (p.Leu128=) rs150339878 0.00503
NM_000057.4(BLM):c.3960C>T (p.Pro1320=) rs56009845 0.00502
NM_005045.4(RELN):c.1824C>T (p.Cys608=) rs79620906 0.00502
NM_022168.4(IFIH1):c.2807+1G>A rs35732034 0.00502
NM_001113378.2(FANCI):c.976-13A>T rs145864790 0.00501
NM_001127671.2(LIFR):c.*6140C>G rs73077446 0.00501
NM_001127671.2(LIFR):c.2766T>C (p.Asp922=) rs61027880 0.00501
NM_001329943.3(KIAA0586):c.1056A>G (p.Ser352=) rs148006211 0.00501
NM_004370.6(COL12A1):c.9162C>T (p.Tyr3054=) rs35292916 0.00501
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_000182.5(HADHA):c.*331T>C rs189483687 0.00500
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816 0.00500
NM_194292.3(SASS6):c.312-4A>C rs149440197 0.00500
NM_000192.3(TBX5):c.-586C>G rs76464487 0.00499
NM_001024630.4(RUNX2):c.663A>G (p.Val221=) rs115763613 0.00499
NM_001106.4(ACVR2B):c.*6553G>A rs75944257 0.00499
NM_001347721.2(DYRK1A):c.1389T>C (p.Tyr463=) rs55854596 0.00499
NM_003722.5(TP63):c.*2016A>G rs115660354 0.00499
NM_004004.6(GJB2):c.341A>G (p.Glu114Gly) rs2274083 0.00499
NM_004370.6(COL12A1):c.4917C>T (p.Asp1639=) rs80102965 0.00499
NM_032444.4(SLX4):c.*1095G>A rs116498263 0.00499
NM_000302.4(PLOD1):c.76+17C>T rs113691754 0.00498
NM_001113378.2(FANCI):c.1699-7C>A rs28446881 0.00498
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile) rs141548164 0.00498
NM_000428.3(LTBP2):c.5187C>T (p.Phe1729=) rs149587738 0.00497
NM_001134831.2(AHI1):c.3368C>T (p.Ser1123Phe) rs117447608 0.00497
NM_001379081.2(FREM1):c.2274C>A (p.Gly758=) rs12235714 0.00497
NM_000057.4(BLM):c.615G>A (p.Lys205=) rs28903082 0.00496
NM_000514.4(GDNF):c.*450C>T rs141395105 0.00496
NM_001360.3(DHCR7):c.99-10G>A rs189549129 0.00495
NM_001384732.1(CPLANE1):c.5421G>A (p.Lys1807=) rs149313666 0.00495
NM_015681.6(B9D1):c.-110G>A rs117169107 0.00495
NM_000181.4(GUSB):c.725-16C>T rs62470936 0.00494
NM_001083961.2(WDR62):c.866A>G (p.Lys289Arg) rs12327568 0.00494
NM_001379286.1(ZNF423):c.1194G>A (p.Pro398=) rs61747467 0.00494
NM_004415.4(DSP):c.8481C>T (p.Ser2827=) rs151029175 0.00494
NM_006796.3(AFG3L2):c.-137G>C rs191000529 0.00494
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser) rs147530802 0.00493
NM_001077446.4(TSEN34):c.334C>G (p.Leu112Val) rs17849378 0.00493
NM_022336.4(EDAR):c.870C>T (p.Pro290=) rs3749099 0.00493
NM_000020.3(ACVRL1):c.1378-711C>T rs116778422 0.00492
NM_006147.4(IRF6):c.*411C>T rs187379424 0.00492
NM_000090.4(COL3A1):c.4059= (p.His1353=) rs1516446 0.00491
NM_000168.6(GLI3):c.*2117A>G rs185099021 0.00491
NM_003106.4(SOX2):c.453G>A (p.Ala151=) rs74480245 0.00491
NM_005629.4(SLC6A8):c.1496-5C>T rs200695210 0.00491
NM_014846.4(WASHC5):c.867A>C (p.Val289=) rs79464415 0.00491
NM_000553.6(WRN):c.3572+19G>A rs201521208 0.00490
NM_001127671.2(LIFR):c.*5634T>C rs149932478 0.00490
NM_001369268.1(ACAN):c.1366T>C (p.Phe456Leu) rs181736584 0.00490
NM_001378964.1(CDON):c.*2992T>C rs116579152 0.00490
NM_013275.6(ANKRD11):c.1245C>T (p.Asp415=) rs79499872 0.00490
NM_000942.5(PPIB):c.249+19G>T rs150590633 0.00489
NM_004208.4(AIFM1):c.103C>T (p.Pro35Ser) rs61730896 0.00489
NM_024757.5(EHMT1):c.316C>G (p.Gln106Glu) rs144603232 0.00489
NM_000093.5(COL5A1):c.5137-12C>T rs191758714 0.00488
NM_000202.8(IDS):c.925A>G (p.Thr309Ala) rs145807417 0.00488
NM_006306.4(SMC1A):c.699G>A (p.Val233=) rs145319852 0.00488
NM_020964.3(EPG5):c.2911T>G (p.Leu971Val) rs148777356 0.00488
NM_025114.4(CEP290):c.6401T>C (p.Ile2134Thr) rs117852025 0.00488
NM_145691.4(ATPAF2):c.*456T>C rs77980072 0.00488
NM_194318.4(B3GLCT):c.733G>A (p.Val245Met) rs34830061 0.00488
NM_007055.4(POLR3A):c.3987T>C (p.Phe1329=) rs16935497 0.00487
NM_015713.5(RRM2B):c.*190T>C rs60624814 0.00487
NM_016169.4(SUFU):c.1291T>C (p.Leu431=) rs141950577 0.00487
NM_000287.4(PEX6):c.330C>G (p.Thr110=) rs140486558 0.00486
NM_000393.5(COL5A2):c.*391A>G rs143552248 0.00486
NM_138959.3(VANGL1):c.*5444C>G rs142497673 0.00486
NM_145068.4(TRPV3):c.*1424G>A rs73977750 0.00486
NM_145068.4(TRPV3):c.*2611G>A rs147744836 0.00486
NM_182943.3(PLOD2):c.-104G>T rs573663835 0.00486
NM_001083614.2(EARS2):c.16A>G (p.Arg6Gly) rs113722817 0.00485
NM_005529.7(HSPG2):c.12004C>G (p.Leu4002Val) rs140403186 0.00485
NM_000138.5(FBN1):c.*2674T>A rs142196699 0.00484
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His) rs41266761 0.00484
NM_013352.4(DSE):c.711G>C (p.Leu237=) rs140034597 0.00484
NM_017617.5(NOTCH1):c.6397C>T (p.Pro2133Ser) rs61733294 0.00484
NM_018112.3(TMEM38B):c.113-7A>G rs186864213 0.00484
NM_025136.4(OPA3):c.*1642A>G rs144894771 0.00484
NM_001308093.3(GATA4):c.1150-20G>A rs114345849 0.00483
NM_001374353.1(GLI2):c.720C>T (p.Asp240=) rs142793481 0.00483
NM_005026.5(PIK3CD):c.1005C>T (p.Ala335=) rs28730671 0.00483
NM_001077446.4(TSEN34):c.*109A>G rs181231588 0.00482
NM_013275.6(ANKRD11):c.-137A>G rs75012888 0.00482
NM_015559.3(SETBP1):c.1170C>T (p.Ala390=) rs8091231 0.00482
NM_017780.4(CHD7):c.6478G>A (p.Ala2160Thr) rs61753399 0.00482
NM_000297.4(PKD2):c.2398A>C (p.Met800Leu) rs2234917 0.00481
NM_000393.5(COL5A2):c.2769+19A>T rs111609220 0.00481
NM_001382391.1(CSPP1):c.-121A>G rs181470846 0.00481
NM_002968.3(SALL1):c.292A>G (p.Met98Val) rs28643388 0.00481
NM_024009.3(GJB3):c.*218C>A rs78145978 0.00481
NM_000088.4(COL1A1):c.612C>T (p.Pro204=) rs138078016 0.00480
NM_000093.5(COL5A1):c.4955-48G>A rs60879388 0.00480
NM_001399.5(EDA):c.381C>T (p.Ser127=) rs148738342 0.00480
NM_002386.4(MC1R):c.425G>A (p.Arg142His) rs11547464 0.00480
NM_004273.5(CHST3):c.561G>C (p.Val187=) rs147804585 0.00480
NM_014423.4(AFF4):c.819G>A (p.Glu273=) rs141383886 0.00480
NM_032043.3(BRIP1):c.2236A>G (p.Ile746Val) rs111536363 0.00480
NM_052989.3(IFT122):c.1239G>A (p.Glu413=) rs111717774 0.00480
NM_145068.4(TRPV3):c.*2169C>A rs147868324 0.00480
NC_000005.10:g.38594967T>A rs186528221 0.00479
NM_000071.3(CBS):c.531+11G>A rs186114513 0.00479
NM_000108.5(DLD):c.*474T>C rs16872391 0.00479
NM_000393.5(COL5A2):c.*1852T>C rs116255986 0.00479
NM_000393.5(COL5A2):c.2716-4C>T rs111644889 0.00479
NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys) rs57865060 0.00478
NM_000540.3(RYR1):c.9414G>A (p.Pro3138=) rs116130182 0.00478
NM_015713.5(RRM2B):c.*1351T>C rs114108597 0.00478
NM_018006.5(TRMU):c.387A>G (p.Ala129=) rs144586525 0.00478
NM_020639.3(RIPK4):c.*1025G>T rs73216989 0.00478
NM_145068.4(TRPV3):c.*2068A>G rs143685899 0.00478
NM_001377299.1(NDUFS2):c.968G>A (p.Arg323Gln) rs35086265 0.00477
NM_001451.3(FOXF1):c.1083G>A (p.Gly361=) rs112197095 0.00477
NM_017617.5(NOTCH1):c.873C>T (p.Tyr291=) rs143654474 0.00477
NM_022455.5(NSD1):c.1792T>C (p.Leu598=) rs28932176 0.00477
NM_025136.4(OPA3):c.412G>A (p.Ala138Thr) rs201574732 0.00477
NM_000719.7(CACNA1C):c.758-288A>G rs189856321 0.00476
NM_005522.5(HOXA1):c.174G>C (p.Gly58=) rs77832452 0.00476
NM_017777.4(MKS1):c.1436G>A (p.Arg479His) rs111315726 0.00476
NM_017780.4(CHD7):c.7590A>G (p.Lys2530=) rs61742801 0.00476
NM_000203.5(IDUA):c.709C>T (p.Leu237Phe) rs74385837 0.00475
NM_000860.6(HPGD):c.634G>A (p.Asp212Asn) rs148874494 0.00475
NM_001374828.1(ARID1B):c.985G>A (p.Gly329Ser) rs375160616 0.00475
NM_003620.4(PPM1D):c.456C>T (p.Ala152=) rs149400522 0.00475
NM_012414.4(RAB3GAP2):c.961-14G>T rs148886986 0.00475
NM_152419.3(HGSNAT):c.1250+7G>A rs74795999 0.00475
NM_032444.4(SLX4):c.718A>G (p.Asn240Asp) rs114744903 0.00474
NM_207034.3(EDN3):c.525A>G (p.Gln175=) rs34780366 0.00474
NM_001367624.2(ZNF469):c.62G>A (p.Arg21His) rs145178398 0.00473
NM_001844.5(COL2A1):c.3102T>C (p.Pro1034=) rs1793948 0.00473
NM_005105.5(RBM8A):c.240C>T (p.Val80=) rs1806851 0.00473
NM_014918.5(CHSY1):c.423C>T (p.Asp141=) rs115447262 0.00473
NM_000302.4(PLOD1):c.*614G>T rs15431 0.00472
NM_000451.4(SHOX):c.63C>T (p.Gly21=) rs142306835 0.00472
NM_000501.4(ELN):c.493G>T (p.Val165Leu) rs61734581 0.00472
NM_001330078.2(NRXN1):c.1760-16C>T rs79422704 0.00472
NM_002860.4(ALDH18A1):c.2207-3C>T rs149309642 0.00472
NM_030957.4(ADAMTS10):c.356G>A (p.Arg119Gln) rs3814291 0.00472
NM_000287.4(PEX6):c.1479+11C>T rs114137311 0.00471
NM_001203.3(BMPR1B):c.*3679G>A rs568350802 0.00471
NM_003573.2(LTBP4):c.2389+9A>G rs73544980 0.00471
NM_003923.3(FOXH1):c.338G>C (p.Ser113Thr) rs144830740 0.00471
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802 0.00471
NM_000090.4(COL3A1):c.-80G>A rs41265575 0.00470
NM_001143979.2(NDE1):c.-675G>A rs34560499 0.00470
NM_001271938.2(MEGF8):c.5316G>A (p.Leu1772=) rs112433681 0.00470
NM_001360.3(DHCR7):c.549C>T (p.Cys183=) rs115446684 0.00470
NM_017780.4(CHD7):c.2230G>A (p.Gly744Ser) rs141947938 0.00470
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu) rs62272670 0.00470
NM_000263.4(NAGLU):c.675G>T (p.Leu225=) rs115680529 0.00469
NM_001174147.2(LMX1B):c.*4288G>A rs150407176 0.00469
NM_001379286.1(ZNF423):c.1986C>T (p.His662=) rs75294107 0.00469
NM_002465.4(MYBPC1):c.-46C>T rs148011345 0.00469
NM_005732.4(RAD50):c.572C>T (p.Thr191Ile) rs2230017 0.00469
NM_018714.3(COG1):c.522T>C (p.Pro174=) rs75460067 0.00469
NM_022114.4(PRDM16):c.1518G>A (p.Thr506=) rs368589754 0.00469
NM_153490.3(KRT13):c.735+6C>T rs181122697 0.00469
NM_001077418.3(TMEM231):c.498G>A (p.Pro166=) rs201636741 0.00468
NM_001134831.2(AHI1):c.932-10A>G rs114319588 0.00468
NM_001367624.2(ZNF469):c.10855G>A (p.Val3619Met) rs111494864 0.00468
NM_002834.5(PTPN11):c.757-69T>C rs150087259 0.00468
NM_003738.5(PTCH2):c.3216T>C (p.Gly1072=) rs11573596 0.00468
NM_005045.4(RELN):c.3712A>C (p.Asn1238His) rs114003896 0.00468
NM_006015.6(ARID1A):c.6586C>T (p.Leu2196=) rs149633292 0.00468
NM_024120.5(NDUFAF5):c.183G>C (p.Arg61=) rs139219896 0.00468
NM_172201.2(KCNE2):c.25C>G (p.Gln9Glu) rs16991652 0.00468
NM_000044.6(AR):c.1029T>C (p.Ser343=) rs113983339 0.00467
NM_000126.4(ETFA):c.351+17T>C rs138629105 0.00467
NM_001367624.2(ZNF469):c.5414C>A (p.Pro1805His) rs78446958 0.00467
NM_001451.3(FOXF1):c.908G>A (p.Ser303Asn) rs200676463 0.00467
NM_004525.3(LRP2):c.3659C>T (p.Ala1220Val) rs144723964 0.00467
NM_133459.4(CCBE1):c.*1969A>G rs144921615 0.00467
NM_000124.4(ERCC6):c.3010C>T (p.Leu1004=) rs2274097 0.00466
NM_000264.5(PTCH1):c.2937C>T (p.Asn979=) rs58629309 0.00466
NM_000316.3(PTH1R):c.216G>A (p.Ala72=) rs116789130 0.00466
NM_001134831.2(AHI1):c.2798A>G (p.Tyr933Cys) rs41288013 0.00466
NM_001378964.1(CDON):c.2392A>G (p.Ile798Val) rs142919781 0.00466
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys) rs115321485 0.00466
NM_003924.4(PHOX2B):c.726A>G (p.Ala242=) rs757355779 0.00466
NM_015311.3(OBSL1):c.4192G>A (p.Val1398Ile) rs147543583 0.00466
NM_018238.4(AGK):c.*184C>T rs116500538 0.00466
NM_032444.4(SLX4):c.*1022A>G rs78346491 0.00466
NM_000088.4(COL1A1):c.3243T>C (p.Val1081=) rs1800217 0.00465
NM_000093.5(COL5A1):c.-382C>G rs555826102 0.00465
NM_001082486.2(ACD):c.494-20C>T rs59443695 0.00465
NM_001148.6(ANK2):c.9061G>A (p.Ala3021Thr) rs74348333 0.00465
NM_001374353.1(GLI2):c.4281G>A (p.Met1427Ile) rs146467786 0.00465
NM_001374353.1(GLI2):c.4282C>T (p.Leu1428Phe) rs146207623 0.00465
NM_001378964.1(CDON):c.*3409T>G rs141160538 0.00465
NM_012431.3(SEMA3E):c.2283C>T (p.Ser761=) rs80079143 0.00465
NM_024426.6(WT1):c.1114-9T>C rs5030274 0.00465
NM_138959.3(VANGL1):c.*5267G>A rs75064936 0.00465
NM_198525.3(KIF7):c.294A>G (p.Ser98=) rs145049849 0.00465
NM_000138.5(FBN1):c.*1084T>C rs3803350 0.00464
NM_000181.4(GUSB):c.1245-15C>T rs62470935 0.00464
NM_000404.4(GLB1):c.1577G>A (p.Gly526Asp) rs147332381 0.00464
NM_005045.4(RELN):c.5775A>G (p.Arg1925=) rs2711866 0.00464
NM_007294.4(BRCA1):c.5468-10C>A rs8176316 0.00464
NM_022458.4(LMBR1):c.*1797G>C rs113036233 0.00464
NM_000095.3(COMP):c.762+12C>A rs199733531 0.00463
NM_001379286.1(ZNF423):c.100+13G>A rs143660882 0.00463
NM_002386.3(MC1R):c.-450C>T rs3212360 0.00463
NM_025074.7(FRAS1):c.9183G>A (p.Ala3061=) rs139589570 0.00463
NM_025114.4(CEP290):c.5506A>G (p.Ile1836Val) rs11104729 0.00463
NM_147127.5(EVC2):c.675A>G (p.Gly225=) rs74930168 0.00463
NM_000047.3(ARSL):c.430+8C>T rs56393981 0.00462
NM_001113378.2(FANCI):c.2056C>A (p.Gln686Lys) rs28378332 0.00462
NM_003072.5(SMARCA4):c.4272G>A (p.Pro1424=) rs114882905 0.00462
NM_025136.4(OPA3):c.*4954C>T rs146646433 0.00462
NM_000108.5(DLD):c.543A>T (p.Ile181=) rs61749952 0.00461
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=) rs116747861 0.00461
NM_001083961.2(WDR62):c.2334-6C>A rs138928852 0.00461
NM_001365999.1(SZT2):c.1262-14C>T rs150704592 0.00461
NM_001367624.2(ZNF469):c.9125G>A (p.Arg3042His) rs150598363 0.00461
NM_001743.6(CALM2):c.240A>T (p.Thr80=) rs77653008 0.00461
NM_003000.3(SDHB):c.24C>T (p.Ser8=) rs148738139 0.00461
NM_005027.4(PIK3R2):c.1560-17C>T rs183117011 0.00461
NM_014244.5(ADAMTS2):c.1695C>T (p.Gly565=) rs116708837 0.00461
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204 0.00460
NM_002693.3(POLG):c.3198G>A (p.Thr1066=) rs61752780 0.00460
NM_004525.3(LRP2):c.79+7G>A rs376136995 0.00460
NM_012293.3(PXDN):c.3850G>T (p.Val1284Leu) rs147066927 0.00460
NM_020751.3(COG6):c.153+19G>A rs45508796 0.00460
NM_021830.5(TWNK):c.*455C>T rs148810959 0.00460
NM_001379286.1(ZNF423):c.2562C>A (p.Pro854=) rs12599354 0.00459
NM_001386795.1(DTNA):c.210G>A (p.Leu70=) rs117571555 0.00459
NM_002334.4(LRP4):c.300G>A (p.Ser100=) rs61745166 0.00459
NM_004168.4(SDHA):c.*249T>C rs189989110 0.00459
NM_022552.5(DNMT3A):c.89A>C (p.Glu30Ala) rs143730975 0.00459
NM_001291415.2(KDM6A):c.3870T>C (p.Ala1290=) rs142238688 0.00458
NM_012186.3(FOXE3):c.587G>C (p.Gly196Ala) rs281865461 0.00458
NM_022552.5(DNMT3A):c.1280-7C>T rs151060791 0.00458
NM_025136.4(OPA3):c.*6208C>T rs139798464 0.00458
NM_145020.5(CFAP53):c.910A>G (p.Arg304Gly) rs34499039 0.00458
NM_145068.4(TRPV3):c.1503+13C>G rs141061726 0.00458
NM_182943.3(PLOD2):c.2229T>C (p.Pro743=) rs78976445 0.00458
NM_203486.3(DLL3):c.1143C>T (p.Ala381=) rs367573123 0.00458
NM_004456.5(EZH2):c.2028T>C (p.Asn676=) rs115842196 0.00457
NM_006031.6(PCNT):c.9099+12G>A rs140828051 0.00457
NM_013275.6(ANKRD11):c.4872G>A (p.Ala1624=) rs143426579 0.00457
NM_000124.4(ERCC6):c.*1275C>G rs182177140 0.00456
NM_000540.3(RYR1):c.11034+20G>T rs186460831 0.00456
NM_001113378.2(FANCI):c.3103C>T (p.Leu1035=) rs34462132 0.00456
NM_004393.6(DAG1):c.1701C>T (p.Ser567=) rs142579425 0.00456
NM_006329.4(FBLN5):c.502+15G>C rs190933127 0.00456
NM_020937.4(FANCM):c.3920A>G (p.Tyr1307Cys) rs61730251 0.00456
NM_030973.4(MED25):c.1794C>T (p.Ala598=) rs185100172 0.00456
NM_000263.4(NAGLU):c.1788C>T (p.Gly596=) rs115166595 0.00455
NM_006567.5(FARS2):c.737C>T (p.Thr246Met) rs116567033 0.00455
NM_024665.7(TBL1XR1):c.291A>G (p.Gln97=) rs61750379 0.00455
NM_080605.4(B3GALT6):c.457C>A (p.Leu153Ile) rs142820961 0.00455
NM_000192.3(TBX5):c.-449G>C rs148864662 0.00454
NM_000503.6(EYA1):c.*1263C>T rs140308724 0.00454
NM_003001.5(SDHC):c.354T>C (p.Phe118=) rs61733156 0.00454
NM_004456.5(EZH2):c.396T>C (p.Pro132=) rs61732845 0.00454
NM_012123.4(MTO1):c.1368T>C (p.Thr456=) rs115654622 0.00454
NM_014141.6(CNTNAP2):c.1137C>T (p.Asn379=) rs78543192 0.00454
NM_014141.6(CNTNAP2):c.3382-7C>T rs189589051 0.00454
NM_021830.5(TWNK):c.-650A>G rs187213541 0.00454
NM_145054.5(CFAP52):c.1185C>T (p.Asp395=) rs149428354 0.00454
NM_000027.4(AGA):c.60A>G (p.Leu20=) rs114918706 0.00453
NM_007373.4(SHOC2):c.*697C>T rs189140753 0.00453
NM_018718.3(CEP41):c.208-5A>G rs11765434 0.00453
NM_022455.5(NSD1):c.2169C>T (p.Thr723=) rs11948062 0.00453
NM_001110219.3(GJB6):c.595T>A (p.Ser199Thr) rs111033338 0.00452
NM_006306.4(SMC1A):c.1698G>A (p.Glu566=) rs7052858 0.00452
NM_000528.4(MAN2B1):c.2006C>T (p.Pro669Leu) rs75029862 0.00451
NM_001134831.2(AHI1):c.2916T>G (p.Ser972=) rs140280929 0.00451
NM_001379081.2(FREM1):c.635T>G (p.Leu212Arg) rs145369669 0.00451
NM_002010.3(FGF9):c.-171A>G rs149762079 0.00451
NM_003850.3(SUCLA2):c.256A>G (p.Ile86Val) rs61756204 0.00451
NM_004565.3(PEX14):c.795A>G (p.Ser265=) rs41274484 0.00451
NM_014762.4(DHCR24):c.*913C>T rs114343980 0.00451
NM_052989.3(IFT122):c.1273C>T (p.Arg425Trp) rs61744639 0.00451
NM_152564.5(VPS13B):c.3386A>G (p.Lys1129Arg) rs61759485 0.00451
NM_153717.3(EVC):c.469C>G (p.Pro157Ala) rs146729456 0.00451
NM_000182.5(HADHA):c.1981C>T (p.Leu661=) rs142348718 0.00450
NM_001018115.3(FANCD2):c.1156T>G (p.Phe386Val) rs149125003 0.00450
NM_001173990.3(TMEM216):c.35-17C>T rs147953784 0.00450
NM_003119.4(SPG7):c.1032C>T (p.Gly344=) rs116319889 0.00450
NM_005027.4(PIK3R2):c.451C>T (p.Pro151Ser) rs143873873 0.00450
NM_000719.7(CACNA1C):c.5064C>T (p.Ser1688=) rs139872789 0.00449
NM_002693.3(POLG):c.3644-14G>C rs3087375 0.00449
NM_004260.4(RECQL4):c.195C>G (p.Leu65=) rs369163654 0.00449
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_025136.4(OPA3):c.*398G>T rs183851663 0.00449
NM_181486.4(TBX5):c.*673C>T rs140532076 0.00449
NM_194318.4(B3GLCT):c.1134C>T (p.Tyr378=) rs34854594 0.00449
NM_000089.4(COL1A2):c.*283T>C rs114837909 0.00448
NM_000090.4(COL3A1):c.2022+5T>C rs41263765 0.00448
NM_001371986.1(UNC80):c.92+7G>A rs200211384 0.00448
NM_022725.4(FANCF):c.883G>A (p.Val295Ile) rs7103293 0.00448
NM_024312.5(GNPTAB):c.1626A>G (p.Glu542=) rs61745799 0.00448
NM_000218.3(KCNQ1):c.1222C>G (p.Pro408Ala) rs28730756 0.00447
NM_001109878.2(TBX22):c.176-13C>A rs55760411 0.00447
NM_001360.3(DHCR7):c.1008C>T (p.His336=) rs75225632 0.00447
NM_018714.3(COG1):c.2231A>G (p.Tyr744Cys) rs7208207 0.00447
NM_000020.3(ACVRL1):c.*499T>G rs572632343 0.00446
NM_001347721.2(DYRK1A):c.2008G>C (p.Ala670Pro) rs55720916 0.00446
NM_000044.6(AR):c.324G>C (p.Leu108=) rs147677446 0.00445
NM_002381.5(MATN3):c.62T>G (p.Leu21Arg) rs573907581 0.00445
NM_022455.5(NSD1):c.1690G>T (p.Ala564Ser) rs116520623 0.00445
NM_000218.3(KCNQ1):c.1514+18C>T rs12577654 0.00444
NM_000431.3(MVK):c.-178A>G rs67606936 0.00444
NM_007055.4(POLR3A):c.3846C>T (p.Ile1282=) rs116197727 0.00444
NM_007254.4(PNKP):c.*21A>C rs201872477 0.00444
NM_015335.5(MED13L):c.1863T>C (p.Ile621=) rs61748071 0.00444
NM_015922.3(NSDHL):c.1054C>T (p.Leu352=) rs142351862 0.00444
NM_000090.4(COL3A1):c.1659T>A (p.Pro553=) rs41263751 0.00443
NM_000093.5(COL5A1):c.2799+13C>A rs75668257 0.00443
NM_001122681.2(SH3BP2):c.464C>T (p.Ala155Val) rs35313240 0.00443
NM_001235.5(SERPINH1):c.*580T>G rs145619367 0.00443
NM_002386.4(MC1R):c.466G>C (p.Val156Leu) rs3212365 0.00443
NM_020458.4(TTC7A):c.2170C>A (p.Gln724Lys) rs140166160 0.00442
NM_052989.3(IFT122):c.2349C>A (p.Ile783=) rs114357746 0.00442
NM_138959.3(VANGL1):c.*3653C>T rs146435279 0.00442
NM_139125.4(MASP1):c.1746G>A (p.Pro582=) rs3821805 0.00442
NM_001365999.1(SZT2):c.8910C>T (p.Ser2970=) rs116536134 0.00441
NM_003850.3(SUCLA2):c.789T>C (p.Asp263=) rs57270175 0.00441
NM_004525.3(LRP2):c.7917A>C (p.Gly2639=) rs144126440 0.00441
NM_013275.6(ANKRD11):c.744+18C>G rs147328392 0.00441
NM_000059.4(BRCA2):c.7008-62A>G rs76584943 0.00439
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=) rs111844882 0.00439
NM_003722.5(TP63):c.*2002T>G rs35969817 0.00439
NM_052989.3(IFT122):c.1993-8C>T rs531091599 0.00439
NM_153704.6(TMEM67):c.2952A>G (p.Ala984=) rs115967793 0.00439
NM_000493.4(COL10A1):c.150T>A (p.Ser50Arg) rs142411445 0.00438
NM_002635.4(SLC25A3):c.*102C>A rs74604883 0.00438
NM_004380.3(CREBBP):c.5933A>G (p.Asn1978Ser) rs112906840 0.00438
NM_021252.5(RAB18):c.-20C>T rs74127323 0.00438
NM_022114.4(PRDM16):c.1212G>A (p.Thr404=) rs139129844 0.00438
NM_001005498.4(RHBDF2):c.788C>T (p.Ser263Phe) rs116968311 0.00437
NM_001106.4(ACVR2B):c.*4963T>A rs59630626 0.00437
NM_002148.4(HOXD10):c.*279G>A rs150556295 0.00437
NM_000057.4(BLM):c.4076+4T>G rs183176301 0.00436
NM_000138.5(FBN1):c.1746C>T (p.Cys582=) rs112366266 0.00436
NM_000368.5(TSC1):c.*3952A>G rs114454155 0.00436
NM_000781.3(CYP11A1):c.535G>A (p.Val179Ile) rs58174009 0.00436
NM_001083962.2(TCF4):c.*4437G>C rs61524834 0.00436
NM_025074.7(FRAS1):c.9853C>T (p.His3285Tyr) rs182196851 0.00436
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=) rs113115949 0.00435
NM_001308093.3(GATA4):c.1224A>C (p.Pro408=) rs7830178 0.00435
NM_002693.3(POLG):c.-80C>T rs3087378 0.00435
NM_003860.4(BANF1):c.204C>T (p.Gly68=) rs140057395 0.00435
NM_005629.4(SLC6A8):c.1768-3C>T rs150207268 0.00435
NM_017617.5(NOTCH1):c.3333C>T (p.Asp1111=) rs61751545 0.00435
NC_000007.14:g.156779628A>G rs150658639 0.00434
NM_000057.4(BLM):c.410A>G (p.Lys137Arg) rs28384988 0.00434
NM_000088.4(COL1A1):c.750+12G>T rs79480112 0.00434
NM_000284.4(PDHA1):c.*1869G>C rs15943 0.00434
NM_001999.4(FBN2):c.6000A>G (p.Leu2000=) rs148293104 0.00434
NM_003072.5(SMARCA4):c.4494C>T (p.Tyr1498=) rs139505007 0.00434
NM_004560.4(ROR2):c.-60G>T rs184095609 0.00434
NM_022458.4(LMBR1):c.*303T>C rs115465818 0.00434
NM_024537.4(CARS2):c.1054+8G>A rs374859 0.00434
NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala) rs181733689 0.00433
NM_004656.4(BAP1):c.2057-4G>T rs149499021 0.00433
NM_014704.4(CEP104):c.416T>C (p.Ile139Thr) rs76925798 0.00433
NM_000088.4(COL1A1):c.1168G>A (p.Ala390Thr) rs116794104 0.00432
NM_000135.4(FANCA):c.903G>T (p.Val301=) rs56062548 0.00432
NM_000503.6(EYA1):c.*353C>T rs151172668 0.00432
NM_006306.4(SMC1A):c.298+19A>G rs113817745 0.00432
NM_018026.4(PACS1):c.858A>C (p.Ser286=) rs114730283 0.00432
NM_000088.4(COL1A1):c.4281T>C (p.Ile1427=) rs41316725 0.00431
NM_139125.4(MASP1):c.1062G>A (p.Thr354=) rs116763673 0.00431
NM_198173.3(GRHL3):c.1430C>T (p.Ser477Leu) rs114518869 0.00431
NM_203290.4(POLR1C):c.634A>G (p.Met212Val) rs79222964 0.00431
NM_000090.4(COL3A1):c.3654G>T (p.Pro1218=) rs35759441 0.00430
NM_001122681.2(SH3BP2):c.*4992C>A rs142420602 0.00430
NM_004168.4(SDHA):c.969C>T (p.Gly323=) rs142849100 0.00430
NM_004260.4(RECQL4):c.2755+16dup rs35544622 0.00430
NM_006412.4(AGPAT2):c.475C>T (p.Arg159Cys) rs142993240 0.00430
NM_016169.4(SUFU):c.210T>C (p.Tyr70=) rs35166585 0.00430
NM_207361.6(FREM2):c.4031G>A (p.Arg1344His) rs143044921 0.00430
NM_001122681.2(SH3BP2):c.*7184A>G rs113482596 0.00429
NM_001134831.2(AHI1):c.2972G>A (p.Arg991His) rs35851478 0.00429
NM_001382391.1(CSPP1):c.1391C>G (p.Ser464Cys) rs146431326 0.00429
NM_002857.4(PEX19):c.771+3A>G rs141133579 0.00429
NM_005633.4(SOS1):c.*3451A>T rs78411167 0.00429
NM_021922.3(FANCE):c.1572G>A (p.Arg524=) rs115195341 0.00429
NM_031850.3(AGTR1):c.-329G>T rs148296224 0.00429
NM_052989.3(IFT122):c.1113C>T (p.Asp371=) rs139319087 0.00429
NM_182943.3(PLOD2):c.*764A>G rs141834169 0.00429
NM_000316.3(PTH1R):c.436C>A (p.Arg146=) rs143863124 0.00428
NM_002465.4(MYBPC1):c.608+9A>G rs183524782 0.00428
NM_007055.4(POLR3A):c.*994C>T rs148339082 0.00428
NM_015937.6(PIGT):c.969C>T (p.Thr323=) rs116312756 0.00428
NM_145020.5(CFAP53):c.789C>T (p.Asn263=) rs114015053 0.00428
NM_182943.3(PLOD2):c.1647T>C (p.Asn549=) rs141850775 0.00428
NM_000501.4(ELN):c.*172G>A rs56120764 0.00427
NM_001015880.2(PAPSS2):c.753+4A>C rs17125280 0.00427
NM_001999.4(FBN2):c.1040G>A (p.Arg347His) rs112428886 0.00427
NM_001999.4(FBN2):c.6512-17G>C rs28763932 0.00427
NM_003722.5(TP63):c.*854A>G rs187751631 0.00427
NM_004260.4(RECQL4):c.1090G>A (p.Val364Met) rs144637135 0.00427
NM_014244.5(ADAMTS2):c.1458C>T (p.Tyr486=) rs61757478 0.00427
NM_025136.4(OPA3):c.*3117C>T rs569595277 0.00427
NM_025265.4(TSEN2):c.*78G>A rs735640 0.00427
NM_130837.3(OPA1):c.*220A>G rs76421015 0.00427
NM_001042492.3(NF1):c.2985G>C (p.Leu995=) rs17881467 0.00426
NM_001077446.4(TSEN34):c.39G>A (p.Val13=) rs184898622 0.00426
NM_001291415.2(KDM6A):c.3834T>C (p.His1278=) rs138989066 0.00426
NM_002296.4(LBR):c.1609T>G (p.Ser537Ala) rs80299691 0.00426
NM_004525.3(LRP2):c.9613A>G (p.Asn3205Asp) rs35734447 0.00426
NM_004813.4(PEX16):c.943C>T (p.Leu315=) rs150774189 0.00426
NM_005359.6(SMAD4):c.*1820T>G rs141309481 0.00426
NM_014780.5(CUL7):c.5088C>T (p.Thr1696=) rs73733789 0.00426
NM_022458.4(LMBR1):c.*685G>A rs149399222 0.00426
NM_025074.7(FRAS1):c.8215G>A (p.Ala2739Thr) rs192476468 0.00426
NM_014822.4(SEC24D):c.2959-16G>T rs58916284 0.00425
NM_016169.4(SUFU):c.12G>A (p.Leu4=) rs189234140 0.00425
NM_000168.6(GLI3):c.4510A>C (p.Ile1504Leu) rs145419251 0.00424
NM_000257.4(MYH7):c.3972+16G>A rs114978322 0.00424
NM_001367624.2(ZNF469):c.327G>A (p.Ala109=) rs192479136 0.00424
NM_013275.6(ANKRD11):c.5338G>A (p.Ala1780Thr) rs75362060 0.00424
NM_016277.5(RAB23):c.-23C>T rs145059995 0.00424
NM_022168.4(IFIH1):c.258C>G (p.Thr86=) rs143870870 0.00424
NM_138959.3(VANGL1):c.*2865A>G rs114921471 0.00424
NM_000719.7(CACNA1C):c.5091+18G>A rs143343491 0.00423
NM_007373.4(SHOC2):c.1594A>G (p.Ser532Gly) rs145463534 0.00423
NM_015631.6(TCTN3):c.1030G>A (p.Gly344Arg) rs141088838 0.00423
NM_178161.3(PTF1A):c.269G>C (p.Gly90Ala) rs535090775 0.00423
NM_181486.4(TBX5):c.787G>A (p.Val263Met) rs147405081 0.00423
NM_198525.3(KIF7):c.49C>T (p.Arg17Trp) rs141865394 0.00423
NM_000489.6(ATRX):c.485-17C>G rs193223073 0.00422
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=) rs28763931 0.00422
NM_004260.4(RECQL4):c.3503-20G>A rs372780200 0.00422
NM_004782.4(SNAP29):c.*138C>T rs375995790 0.00422
NM_005732.4(RAD50):c.2910C>T (p.Asp970=) rs148269640 0.00422
NM_000020.3(ACVRL1):c.772+24C>T rs151169686 0.00421
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) rs2229035 0.00421
NM_001127671.2(LIFR):c.954C>T (p.Thr318=) rs61748202 0.00421
NM_001375405.1(CEP120):c.1112A>G (p.Lys371Arg) rs114281792 0.00421
NM_002272.4(KRT4):c.456C>T (p.Ile152=) rs140582332 0.00421
NM_002470.4(MYH3):c.690C>G (p.Ala230=) rs147148934 0.00421
NM_003673.4(TCAP):c.191C>T (p.Ser64Leu) rs45458802 0.00421
NM_004273.5(CHST3):c.1428C>T (p.Phe476=) rs75845750 0.00421
NM_005529.7(HSPG2):c.8330G>A (p.Arg2777Gln) rs146305109 0.00421
NM_005633.4(SOS1):c.*3569T>C rs115465194 0.00421
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869 0.00421
NM_012330.4(KAT6B):c.4407G>A (p.Ser1469=) rs114126792 0.00421
NM_015631.6(TCTN3):c.224C>T (p.Ala75Val) rs41291570 0.00421
NM_018451.5(CPAP):c.3367-12T>C rs3742163 0.00421
NM_024426.6(WT1):c.*16G>T rs2234594 0.00421
NM_002437.5(MPV17):c.27G>T (p.Arg9=) rs35244252 0.00420
NM_004370.6(COL12A1):c.4245T>C (p.Tyr1415=) rs34830422 0.00420
NM_005529.7(HSPG2):c.12815+4G>A rs117182812 0.00420
NM_022095.4(ZNF335):c.3507C>T (p.His1169=) rs141812371 0.00420
NM_213720.3(CHCHD10):c.136G>T (p.Ala46Ser) rs200831077 0.00420
NM_000036.3(AMPD1):c.1845C>T (p.Ile615=) rs34257411 0.00419
NM_001365276.2(TNXB):c.6348C>T (p.Thr2116=) rs143840297 0.00419
NM_002010.3(FGF9):c.*516C>A rs73430215 0.00419
NM_003098.3(SNTA1):c.701+10G>A rs6057846 0.00419
NM_004370.6(COL12A1):c.4876T>G (p.Ser1626Ala) rs77654847 0.00419
NM_018714.3(COG1):c.775G>T (p.Val259Leu) rs139304974 0.00419
NC_000001.11:g.230706034G>A rs11568041 0.00418
NC_000009.12:g.35657733_35657802dup rs1563906333 0.00418
NM_000393.5(COL5A2):c.*525A>G rs10195176 0.00418
NM_000553.6(WRN):c.4015G>A (p.Val1339Ile) rs11574395 0.00418
NM_001005498.4(RHBDF2):c.277G>A (p.Ala93Thr) rs114238341 0.00418
NM_001365276.2(TNXB):c.1837A>G (p.Ser613Gly) rs61744970 0.00418
NM_001365276.2(TNXB):c.6683T>A (p.Phe2228Tyr) rs3749960 0.00418
NM_003036.4(SKI):c.1834C>T (p.Leu612=) rs35833638 0.00418
NM_018668.5(VPS33B):c.-271A>C rs116461458 0.00418
NM_021926.4(ALX4):c.*2828C>T rs77015141 0.00418
NM_000036.3(AMPD1):c.1911C>T (p.Phe637=) rs34778674 0.00417
NM_000925.4(PDHB):c.303+16T>C rs75014325 0.00417
NM_001024630.4(RUNX2):c.*318C>T rs78935067 0.00417
NM_001367624.2(ZNF469):c.10795G>T (p.Ala3599Ser) rs199760004 0.00417
NM_006265.3(RAD21):c.938-11T>C rs200333487 0.00417
NM_014141.6(CNTNAP2):c.3675G>A (p.Ser1225=) rs142331907 0.00417
NM_016042.4(EXOSC3):c.540T>C (p.Cys180=) rs62640003 0.00417
NM_022095.4(ZNF335):c.826G>A (p.Ala276Thr) rs117802609 0.00417
NM_024537.4(CARS2):c.1417-17C>T rs113709957 0.00417
NM_032861.4(SERAC1):c.1134C>T (p.Gly378=) rs116763934 0.00417
NM_198239.2(CCN6):c.892A>C (p.Ile298Leu) rs34686812 0.00417
NM_000208.4(INSR):c.870C>T (p.His290=) rs74483718 0.00416
NM_001083961.2(WDR62):c.3946C>G (p.Gln1316Glu) rs35811023 0.00416
NM_018668.5(VPS33B):c.1332G>A (p.Thr444=) rs147407982 0.00416
NM_032444.4(SLX4):c.1637A>G (p.Tyr546Cys) rs150547487 0.00416
NM_147127.5(EVC2):c.307T>C (p.Leu103=) rs140877783 0.00416
NM_001365951.3(KIF1B):c.5250A>G (p.Ala1750=) rs75413741 0.00415
NM_002076.4(GNS):c.792+16A>G rs148924072 0.00415
NM_019892.6(INPP5E):c.791G>A (p.Arg264His) rs202197173 0.00415
NM_000027.4(AGA):c.965C>T (p.Thr322Ile) rs56849061 0.00414
NM_000141.5(FGFR2):c.159G>A (p.Ala53=) rs1047102 0.00414
NM_001083961.2(WDR62):c.1225A>G (p.Asn409Asp) rs146180912 0.00414
NM_018026.4(PACS1):c.1969A>C (p.Met657Leu) rs115947278 0.00414
NM_133259.4(LRPPRC):c.1529C>G (p.Ala510Gly) rs115693730 0.00414
NM_000079.4(CHRNA1):c.643G>A (p.Asp215Asn) rs148304857 0.00413
NM_015937.6(PIGT):c.533G>A (p.Arg178Gln) rs80158178 0.00413
NM_133459.4(CCBE1):c.*3777A>T rs184237348 0.00413
NM_138959.3(VANGL1):c.345C>T (p.Val115=) rs79828493 0.00413
NM_145068.4(TRPV3):c.807A>G (p.Ala269=) rs75487373 0.00413
NM_000182.5(HADHA):c.1690-6G>A rs111662358 0.00412
NM_000264.5(PTCH1):c.*801C>T rs114243832 0.00412
NM_001001433.3(STX16):c.*3194C>T rs142088857 0.00412
NM_001374353.1(GLI2):c.*1375A>C rs200730065 0.00412
NM_003924.4(PHOX2B):c.450C>G (p.Arg150=) rs17881486 0.00412
NM_005045.4(RELN):c.4986C>G (p.Thr1662=) rs78221963 0.00412
NM_006982.3(ALX1):c.191G>T (p.Arg64Leu) rs115596276 0.00412
NM_152564.5(VPS13B):c.7152G>A (p.Pro2384=) rs61753725 0.00412
NM_000136.3(FANCC):c.-79+5G>A rs4647350 0.00411
NM_001122681.2(SH3BP2):c.*1656T>C rs146752554 0.00411
NM_001122681.2(SH3BP2):c.*6979A>G rs79599795 0.00411
NM_001122681.2(SH3BP2):c.*7181A>G rs143508871 0.00411
NM_001330078.2(NRXN1):c.*540T>A rs74421750 0.00411
NM_016035.5(COQ4):c.614G>A (p.Arg205Gln) rs35213511 0.00411
NM_020639.3(RIPK4):c.1617G>A (p.Thr539=) rs61740535 0.00411
NM_023110.3(FGFR1):c.*2188T>C rs146463691 0.00411
NM_030777.4(SLC2A10):c.366C>T (p.Tyr122=) rs34990188 0.00411
NM_032861.4(SERAC1):c.440C>T (p.Thr147Met) rs114443105 0.00411
NM_001361.5(DHODH):c.457C>A (p.Leu153Ile) rs61741731 0.00410
NM_001395656.1(ROBO2):c.2443C>T (p.Arg815Trp) rs188582283 0.00410
NM_001429.4(EP300):c.2773C>A (p.Pro925Thr) rs148884710 0.00410
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988 0.00410
NM_004239.4(TRIP11):c.1904C>G (p.Ser635Cys) rs59635749 0.00410
NM_004239.4(TRIP11):c.5086G>A (p.Glu1696Lys) rs80200454 0.00410
NM_014317.5(PDSS1):c.162+13A>G rs12571799 0.00410
NM_032861.4(SERAC1):c.1155A>G (p.Gln385=) rs116173262 0.00410
NM_207361.6(FREM2):c.7068C>T (p.Ala2356=) rs74577582 0.00410
NM_000020.3(ACVRL1):c.*992A>G rs567585207 0.00409
NM_000136.3(FANCC):c.*1968G>A rs114827984 0.00409
NM_001148.6(ANK2):c.4404+16T>C rs2272233 0.00409
NM_003070.5(SMARCA2):c.2733A>G (p.Gln911=) rs146829604 0.00409
NM_004304.5(ALK):c.3515+18C>T rs79325200 0.00409
NM_022356.4(P3H1):c.2115C>T (p.Leu705=) rs199887811 0.00409
NM_000182.5(HADHA):c.2146+16T>C rs145930159 0.00408
NM_001378964.1(CDON):c.*2749C>G rs76176354 0.00408
NM_001379286.1(ZNF423):c.3291C>T (p.Tyr1097=) rs150027129 0.00408
NM_003072.5(SMARCA4):c.3547-11T>C rs190104006 0.00408
NM_005529.7(HSPG2):c.5756G>A (p.Arg1919His) rs62642521 0.00408
NM_007078.3(LDB3):c.352G>A (p.Val118Met) rs35507268 0.00408
NM_145068.4(TRPV3):c.*576A>T rs138748634 0.00408
NM_207361.6(FREM2):c.4730T>C (p.Ile1577Thr) rs114798977 0.00408
NM_001271938.2(MEGF8):c.4440C>T (p.Cys1480=) rs138473998 0.00407
NM_005633.4(SOS1):c.345+15C>T rs75937422 0.00407
NM_000475.5(NR0B1):c.1029G>A (p.Leu343=) rs112775648 0.00406
NM_001852.4(COL9A2):c.1870+9T>C rs139929272 0.00406
NM_003738.5(PTCH2):c.2565C>T (p.Leu855=) rs34245589 0.00406
NM_005529.7(HSPG2):c.10151-8C>T rs184079211 0.00406
NM_005529.7(HSPG2):c.4132G>A (p.Glu1378Lys) rs62642525 0.00406
NM_012293.3(PXDN):c.1380G>A (p.Pro460=) rs191647762 0.00406
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105 0.00406
NM_207361.6(FREM2):c.4726C>G (p.Pro1576Ala) rs116742938 0.00406
NM_000089.4(COL1A2):c.2349+16G>C rs112603291 0.00405
NM_002485.5(NBN):c.702+84G>C rs104895036 0.00405
NM_002734.5(PRKAR1A):c.204G>A (p.Leu68=) rs74863634 0.00405
NM_007055.4(POLR3A):c.*673A>G rs150842225 0.00405
NM_014141.6(CNTNAP2):c.854G>C (p.Gly285Ala) rs150918383 0.00405
NM_019892.6(INPP5E):c.1730C>G (p.Pro577Arg) rs147967974 0.00405
NM_020964.3(EPG5):c.4039A>C (p.Asn1347His) rs144860976 0.00405
NM_000089.4(COL1A2):c.3336C>T (p.Tyr1112=) rs34691365 0.00404
NM_000512.5(GALNS):c.359C>T (p.Ser120Leu) rs112454391 0.00404
NM_001371986.1(UNC80):c.4890+7T>G rs113342352 0.00404
NM_006218.4(PIK3CA):c.2298T>G (p.Leu766=) rs116164892 0.00404
NM_007055.4(POLR3A):c.*1718G>C rs144088118 0.00404
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His) rs76371972 0.00404
NM_000182.5(HADHA):c.68-10T>G rs144414842 0.00403
NM_001148.6(ANK2):c.4744C>T (p.Arg1582Trp) rs35249198 0.00403
NM_001367624.2(ZNF469):c.7675A>G (p.Lys2559Glu) rs146789160 0.00403
NM_001386795.1(DTNA):c.1993+7T>C rs138590000 0.00403
NM_002547.3(OPHN1):c.902C>T (p.Thr301Met) rs138108344 0.00403
NM_005236.3(ERCC4):c.1446A>G (p.Glu482=) rs114077770 0.00403
NM_000141.5(FGFR2):c.*324A>G rs150519853 0.00402
NM_001379286.1(ZNF423):c.2328C>T (p.His776=) rs73565356 0.00402
NM_003482.4(KMT2D):c.6076A>G (p.Ile2026Val) rs190995850 0.00402
NM_005445.4(SMC3):c.1680T>C (p.Tyr560=) rs75817442 0.00402
NM_014918.5(CHSY1):c.1518T>C (p.Phe506=) rs145002451 0.00402
NM_000136.3(FANCC):c.1329+175C>T rs112446681 0.00401
NM_000203.5(IDUA):c.1190-17_1190-16insA rs201559436 0.00401
NM_001151.4(SLC25A4):c.*2529C>T rs113950388 0.00401
NM_005996.4(TBX3):c.*25T>A rs141350926 0.00401
NM_017617.5(NOTCH1):c.62-8C>T rs202023246 0.00401
NM_022336.4(EDAR):c.1179C>T (p.Asp393=) rs115930248 0.00401
NM_024666.5(AAGAB):c.264+33A>G rs74358343 0.00401
NM_000789.4(ACE):c.417+8G>A rs114000559 0.00400
NM_001113378.2(FANCI):c.1211T>C (p.Ile404Thr) rs79080874 0.00400
NM_012293.3(PXDN):c.1018+9C>T rs182152963 0.00400
NM_021926.4(ALX4):c.*3769T>C rs116662493 0.00400
NM_022336.4(EDAR):c.*254C>T rs148961371 0.00400
NM_000685.5(AGTR1):c.-184C>A rs2307085 0.00399
NM_000900.5(MGP):c.*206A>G rs144321187 0.00399
NM_001365276.2(TNXB):c.2367G>A (p.Gly789=) rs117182156 0.00399
NM_004333.6(BRAF):c.1383A>G (p.Gln461=) rs56216404 0.00399
NM_004531.5(MOCS2):c.367C>T (p.His123Tyr) rs2233218 0.00399
NM_005592.4(MUSK):c.398T>C (p.Ile133Thr) rs55980069 0.00399
NM_012293.3(PXDN):c.1113G>A (p.Pro371=) rs200996147 0.00399
NM_020964.3(EPG5):c.5583C>T (p.Cys1861=) rs200372908 0.00399
NM_024996.7(GFM1):c.1593C>T (p.Ala531=) rs114754676 0.00399
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_001106.4(ACVR2B):c.119G>A (p.Arg40His) rs121434437 0.00398
NM_001379286.1(ZNF423):c.3226C>A (p.Leu1076Met) rs79706004 0.00398
NM_002465.4(MYBPC1):c.191T>C (p.Val64Ala) rs149213047 0.00398
NM_003079.5(SMARCE1):c.1231G>T (p.Glu411Ter) rs62622817 0.00398
NM_014704.4(CEP104):c.1884G>T (p.Thr628=) rs12144567 0.00398
NM_015311.3(OBSL1):c.5280C>T (p.Pro1760=) rs373081802 0.00398
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=) rs61751488 0.00398
NM_018714.3(COG1):c.1712G>A (p.Arg571Gln) rs141750466 0.00398
NM_020937.4(FANCM):c.3040G>T (p.Gly1014Cys) rs77532752 0.00398
NM_023110.3(FGFR1):c.-286C>T rs4647909 0.00398
NM_004273.5(CHST3):c.828C>T (p.Arg276=) rs140547825 0.00397
NM_004959.5(NR5A1):c.871-13C>T rs189724865 0.00397
NM_005529.7(HSPG2):c.2596G>A (p.Gly866Ser) rs62642529 0.00397
NM_030957.4(ADAMTS10):c.204G>A (p.Thr68=) rs139761152 0.00397
NM_000368.5(TSC1):c.*2461G>A rs73552806 0.00396
NM_001271938.2(MEGF8):c.352-4G>A rs143955737 0.00396
NM_012431.3(SEMA3E):c.2102G>T (p.Ser701Ile) rs142204796 0.00396
NM_032444.4(SLX4):c.4068G>A (p.Pro1356=) rs115491049 0.00396
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser) rs28940272 0.00396
NM_000168.6(GLI3):c.*911A>G rs187664615 0.00395
NM_000478.6(ALPL):c.*66C>A rs78043671 0.00395
NM_001079872.2(CUL4B):c.777-12C>T rs192860595 0.00395
NM_003924.4(PHOX2B):c.*278T>A rs73810341 0.00395
NM_004614.5(TK2):c.*2450A>G rs35138698 0.00395
NM_000093.5(COL5A1):c.5407G>A (p.Asp1803Asn) rs61729495 0.00394
NM_000280.4(PAX6):c.*3670C>T rs149777109 0.00394
NM_003482.4(KMT2D):c.8064G>A (p.Glu2688=) rs148457961 0.00394
NM_006270.5(RRAS):c.397G>A (p.Asp133Asn) rs61760904 0.00394
NM_021926.4(ALX4):c.*3773A>G rs114755169 0.00394
NM_030973.4(MED25):c.93C>T (p.Tyr31=) rs61742955 0.00394
NM_000404.4(GLB1):c.*182A>G rs76762176 0.00393
NM_001084.5(PLOD3):c.1797G>A (p.Arg599=) rs139049819 0.00393
NM_032444.4(SLX4):c.336G>A (p.Pro112=) rs79126454 0.00393
NM_001032386.2(SUOX):c.1358G>A (p.Gly453Asp) rs76537761 0.00392
NM_001042492.3(NF1):c.3498C>T (p.Gly1166=) rs2066733 0.00392
NM_001203.3(BMPR1B):c.*487G>T rs183245717 0.00392
NM_001394062.1(MACF1):c.15126A>C (p.Gln5042His) rs147777128 0.00392
NM_023110.3(FGFR1):c.*569C>T rs17182470 0.00392
NM_000020.3(ACVRL1):c.-52G>A rs573048639 0.00390
NM_001005498.4(RHBDF2):c.1812G>A (p.Val604=) rs138683747 0.00390
NM_001079872.2(CUL4B):c.2634G>A (p.Arg878=) rs143580749 0.00390
NM_002693.3(POLG):c.2735-15C>T rs41544115 0.00390
NM_004260.4(RECQL4):c.3133G>A (p.Ala1045Thr) rs35348691 0.00390
NM_012414.4(RAB3GAP2):c.1779+7G>A rs111345353 0.00390
NM_022336.4(EDAR):c.813T>C (p.Asp271=) rs3749098 0.00390
NM_022369.4(STRA6):c.1223G>A (p.Arg408Gln) rs150814749 0.00390
NM_002335.4(LRP5):c.4000+9C>T rs148685646 0.00389
NM_001113378.2(FANCI):c.2832A>C (p.Arg944Ser) rs79685648 0.00388
NM_001999.4(FBN2):c.5496C>T (p.Arg1832=) rs35346129 0.00388
NM_004836.7(EIF2AK3):c.69C>T (p.Leu23=) rs549451772 0.00388
NM_006031.6(PCNT):c.9623+8C>T rs75758339 0.00388
NM_015311.3(OBSL1):c.3283G>A (p.Ala1095Thr) rs186692362 0.00388
NM_022336.4(EDAR):c.723G>A (p.Glu241=) rs3749108 0.00388
NM_080425.4(GNAS):c.1455C>A (p.Ala485=) rs55890501 0.00388
NM_147127.5(EVC2):c.3561A>G (p.Lys1187=) rs76523157 0.00388
NM_001042492.3(NF1):c.3198-4T>C rs587782218 0.00387
NM_002449.5(MSX2):c.*1007T>A rs74292295 0.00387
NM_003072.5(SMARCA4):c.1119-12C>T rs113870824 0.00387
NM_014391.3(ANKRD1):c.148G>C (p.Ala50Pro) rs28730751 0.00387
NM_015311.3(OBSL1):c.3399G>A (p.Gly1133=) rs115915650 0.00387
NM_016938.5(EFEMP2):c.161-10C>T rs2234461 0.00387
NM_020754.4(ARHGAP31):c.1597G>A (p.Gly533Arg) rs75764457 0.00387
NM_138395.4(MARS2):c.1580T>C (p.Val527Ala) rs141544058 0.00387
NM_139125.4(MASP1):c.238-9A>G rs72549171 0.00387
NM_172201.2(KCNE2):c.22A>G (p.Thr8Ala) rs2234916 0.00387
NM_000208.4(INSR):c.*4270G>A rs74433419 0.00386
NM_000264.5(PTCH1):c.*780C>T rs75765727 0.00386
NM_001291867.2(NHS):c.2831A>T (p.His944Leu) rs149244552 0.00386
NM_003119.4(SPG7):c.1653C>T (p.Arg551=) rs56031686 0.00386
NM_014704.4(CEP104):c.1914A>G (p.Arg638=) rs2275829 0.00386
NM_022114.4(PRDM16):c.3130C>T (p.Leu1044Phe) rs187400273 0.00386
NM_024537.4(CARS2):c.1489G>A (p.Val497Ile) rs146355429 0.00386
NM_030632.3(ASXL3):c.1116C>T (p.Leu372=) rs117356074 0.00386
NM_002334.4(LRP4):c.3817C>A (p.Arg1273=) rs61746928 0.00385
NM_002449.5(MSX2):c.*257T>C rs187794452 0.00385
NM_003172.4(SURF1):c.883C>T (p.Arg295Cys) rs147312193 0.00385
NM_004168.4(SDHA):c.456+20G>C rs193283468 0.00385
NM_007055.4(POLR3A):c.2247+8C>T rs147475356 0.00385
NM_030957.4(ADAMTS10):c.*20G>A rs137928083 0.00385
NM_139057.4(ADAMTS17):c.2901C>T (p.Cys967=) rs140384823 0.00385
NC_000007.14:g.156789527T>G rs139601576 0.00384
NM_000095.3(COMP):c.*92G>A rs9407 0.00384
NM_001374828.1(ARID1B):c.3235+6C>T rs148976215 0.00384
NM_003072.5(SMARCA4):c.2001+8T>G rs112549813 0.00384
NM_004525.3(LRP2):c.13620+14C>G rs142018904 0.00384
NM_207361.6(FREM2):c.3979T>A (p.Leu1327Ile) rs116653247 0.00384
NM_000052.7(ATP7A):c.4226+11T>C rs200009243 0.00383
NM_001134831.2(AHI1):c.2505G>A (p.Arg835=) rs41288017 0.00383
NM_003995.4(NPR2):c.668-4C>A rs61758517 0.00383
NM_000057.4(BLM):c.1122T>C (p.His374=) rs28385009 0.00382
NM_000393.5(COL5A2):c.*1076G>A rs114123906 0.00382
NM_001854.4(COL11A1):c.3033A>C (p.Pro1011=) rs143606220 0.00382
NM_004153.4(ORC1):c.1186C>T (p.Arg396Trp) rs114426997 0.00382
NM_006567.5(FARS2):c.468G>A (p.Thr156=) rs73718083 0.00382
NM_012293.3(PXDN):c.1680+19G>A rs201018276 0.00382
NM_020937.4(FANCM):c.4563A>C (p.Glu1521Asp) rs113986680 0.00382
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr) rs77357563 0.00382
NM_000501.4(ELN):c.*1195C>T rs115872030 0.00381
NM_001042492.3(NF1):c.-22G>C rs556823296 0.00381
NM_001127649.3(PEX26):c.815-13C>T rs139370593 0.00381
NM_001854.4(COL11A1):c.130G>A (p.Ala44Thr) rs150090939 0.00381
NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr) rs149647255 0.00381
NM_004387.4(NKX2-5):c.594G>A (p.Gln198=) rs7728764 0.00381
NM_018714.3(COG1):c.2806-13C>T rs141573449 0.00381
NM_138959.3(VANGL1):c.*3608C>T rs555833838 0.00381
NM_000052.7(ATP7A):c.1823A>G (p.Tyr608Cys) rs61742278 0.00380
NM_032444.4(SLX4):c.4600G>A (p.Gly1534Ser) rs78770603 0.00380
NM_000057.4(BLM):c.1722A>G (p.Leu574=) rs28385011 0.00379
NM_000057.4(BLM):c.3020-66T>C rs28385101 0.00379
NM_000169.3(GLA):c.194+17A>G rs2071226 0.00379
NM_000264.5(PTCH1):c.2799G>A (p.Ala933=) rs111446700 0.00379
NM_000284.4(PDHA1):c.831+15C>T rs190157093 0.00379
NM_001106.4(ACVR2B):c.*1042G>A rs541363749 0.00379
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg) rs61756764 0.00379
NM_006031.6(PCNT):c.4345C>G (p.Gln1449Glu) rs139432601 0.00379
NM_020806.5(GPHN):c.1627-20G>T rs113201928 0.00379
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_001106.4(ACVR2B):c.*2042C>T rs187282638 0.00378
NM_014762.4(DHCR24):c.*115C>T rs201545563 0.00378
NM_002381.5(MATN3):c.*759C>T rs190300120 0.00377
NM_003995.4(NPR2):c.873+13C>A rs61758520 0.00377
NM_004656.4(BAP1):c.1838C>T (p.Thr613Met) rs35448940 0.00377
NM_004656.4(BAP1):c.783G>A (p.Gln261=) rs35003777 0.00377
NM_006270.5(RRAS):c.408C>T (p.Pro136=) rs114187560 0.00377
NM_013275.6(ANKRD11):c.5509C>T (p.Pro1837Ser) rs145906515 0.00377
NM_015335.5(MED13L):c.3512A>G (p.Lys1171Arg) rs147863200 0.00377
NM_017617.5(NOTCH1):c.4536C>T (p.Ala1512=) rs61751540 0.00377
NM_152564.5(VPS13B):c.3243A>G (p.Pro1081=) rs34961653 0.00377
NM_000193.4(SHH):c.897G>C (p.Leu299=) rs9333635 0.00376
NM_000256.3(MYBPC3):c.977G>A (p.Arg326Gln) rs34580776 0.00376
NM_000288.4(PEX7):c.377A>C (p.Gln126Pro) rs113268723 0.00376
NM_000890.5(KCNJ5):c.938-11C>T rs72542772 0.00376
NM_001985.3(ETFB):c.58-96G>A rs140608276 0.00376
NM_002272.4(KRT4):c.870G>A (p.Thr290=) rs189596654 0.00376
NM_024809.5(TCTN2):c.810C>T (p.Asp270=) rs144567556 0.00376
NM_001077418.3(TMEM231):c.891G>A (p.Val297=) rs149888762 0.00375
NM_015697.9(COQ2):c.30G>A (p.Arg10=) rs183012002 0.00375
NM_016938.5(EFEMP2):c.138C>T (p.Asp46=) rs2234457 0.00375
NM_018026.4(PACS1):c.534+13T>C rs138009664 0.00375
NM_020639.3(RIPK4):c.*747T>A rs188837957 0.00375
NM_000020.3(ACVRL1):c.*2281G>T rs114323941 0.00374
NM_001614.5(ACTG1):c.-6-3C>T rs140724578 0.00374
NM_005529.7(HSPG2):c.9945G>A (p.Thr3315=) rs77713482 0.00374
NM_000071.3(CBS):c.1039+19C>T rs182908734 0.00373
NM_001110556.2(FLNA):c.882A>G (p.Thr294=) rs184864998 0.00373
NM_001793.6(CDH3):c.2058C>T (p.Pro686=) rs116035854 0.00373
NM_005921.2(MAP3K1):c.3087C>T (p.Phe1029=) rs146112116 0.00373
NM_022114.4(PRDM16):c.387+6C>T rs369010644 0.00373
NM_024809.5(TCTN2):c.1585C>G (p.Leu529Val) rs113301547 0.00373
NM_176787.5(PIGN):c.964-20T>C rs148402610 0.00373
NM_000138.5(FBN1):c.306C>T (p.Cys102=) rs25388 0.00372
NM_000199.5(SGSH):c.249+25G>T rs200104349 0.00372
NM_000202.8(IDS):c.754G>A (p.Asp252Asn) rs146458524 0.00372
NM_000335.5(SCN5A):c.1441C>T (p.Arg481Trp) rs144511230 0.00372
NM_001286577.2(C2CD3):c.704C>T (p.Pro235Leu) rs149910292 0.00372
NM_003072.5(SMARCA4):c.1140C>T (p.His380=) rs114594206 0.00372
NM_004064.5(CDKN1B):c.-266C>G rs3093728 0.00372
NM_005633.4(SOS1):c.*758A>T rs182650589 0.00372
NM_022166.4(XYLT1):c.2370C>A (p.Val790=) rs74750647 0.00372
NM_152564.5(VPS13B):c.7050+11A>G rs114546856 0.00372
NM_001040436.3(YARS2):c.342C>T (p.Gly114=) rs115606831 0.00371
NM_001367624.2(ZNF469):c.5824G>A (p.Gly1942Arg) rs114755302 0.00371
NM_003850.3(SUCLA2):c.37G>A (p.Val13Met) rs35201084 0.00371
NM_004260.4(RECQL4):c.3314G>A (p.Gly1105Asp) rs36078464 0.00371
NM_007055.4(POLR3A):c.*345A>C rs74538796 0.00371
NM_007215.4(POLG2):c.397C>T (p.His133Tyr) rs112984118 0.00371
NM_015311.3(OBSL1):c.1245G>A (p.Arg415=) rs61732788 0.00371
NM_020937.4(FANCM):c.527C>T (p.Thr176Ile) rs77374493 0.00371
NM_022458.4(LMBR1):c.*2609C>T rs114295738 0.00371
NM_025114.4(CEP290):c.1522+6C>T rs148446546 0.00371
NM_025215.6(PUS1):c.397G>A (p.Asp133Asn) rs76655496 0.00371
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788 0.00370
NM_000302.4(PLOD1):c.802A>G (p.Thr268Ala) rs74354225 0.00370
NM_000348.4(SRD5A2):c.*372G>A rs147184986 0.00370
NM_024426.6(WT1):c.*903G>A rs5030325 0.00370
NM_000751.3(CHRND):c.*1240T>C rs77032539 0.00369
NM_002465.4(MYBPC1):c.129C>T (p.Ser43=) rs138170393 0.00369
NM_004525.3(LRP2):c.6194T>C (p.Ile2065Thr) rs2228168 0.00369
NM_020964.3(EPG5):c.3436T>C (p.Leu1146=) rs9965714 0.00369
NM_025215.6(PUS1):c.364C>A (p.Arg122=) rs142954643 0.00369
NM_001015880.2(PAPSS2):c.375C>T (p.Phe125=) rs145230931 0.00368
NM_018451.5(CPAP):c.1233G>A (p.Pro411=) rs112133852 0.00368
NM_000089.4(COL1A2):c.*415T>G rs148913603 0.00367
NM_002601.4(PDE6D):c.371+8A>C rs75242814 0.00367
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter) rs35744605 0.00367
NM_001122681.2(SH3BP2):c.*5898T>A rs182077606 0.00366
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu) rs190983114 0.00366
NM_004064.5(CDKN1B):c.426G>A (p.Thr142=) rs149775942 0.00366
NM_004153.4(ORC1):c.1584-4C>G rs114617697 0.00366
NM_004453.4(ETFDH):c.684+13A>C rs149407913 0.00366
NM_147127.5(EVC2):c.2047-9A>T rs73198154 0.00366
NM_147127.5(EVC2):c.3375A>G (p.Ala1125=) rs116076068 0.00366
NM_002386.4(MC1R):c.*337A>G rs143513600 0.00365
NM_004260.4(RECQL4):c.1704+9C>T rs35876881 0.00365
NM_013275.6(ANKRD11):c.3483C>T (p.Ser1161=) rs150642594 0.00365
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_001005361.3(DNM2):c.2543+7C>G rs201979143 0.00364
NM_002470.4(MYH3):c.4172+9C>T rs116028239 0.00364
NM_002693.3(POLG):c.803G>C (p.Gly268Ala) rs61752784 0.00364
NM_004204.5(PIGQ):c.810C>T (p.Ala270=) rs35227916 0.00364
NM_004656.4(BAP1):c.1729+8T>C rs150945583 0.00364
NM_006147.4(IRF6):c.*665C>A rs4844899 0.00364
NM_006859.4(LIAS):c.57A>C (p.Arg19Ser) rs140921822 0.00364
NM_024009.3(GJB3):c.-407C>T rs547065589 0.00364
NM_207361.6(FREM2):c.6925+7G>T rs79530106 0.00364
NM_000095.3(COMP):c.2227+8G>A rs116499541 0.00363
NM_000124.4(ERCC6):c.4114G>A (p.Gly1372Arg) rs4253227 0.00363
NM_000287.4(PEX6):c.1071A>G (p.Leu357=) rs116318004 0.00363
NM_000553.6(WRN):c.1577-17T>G rs145080962 0.00363
NM_001453.3(FOXC1):c.502C>T (p.Leu168=) rs148739656 0.00363
NM_001999.4(FBN2):c.6511+5G>A rs200608284 0.00363
NM_004304.5(ALK):c.4836G>A (p.Lys1612=) rs78174819 0.00363
NM_006015.6(ARID1A):c.5001G>A (p.Pro1667=) rs116540923 0.00363
NM_025136.4(OPA3):c.*2101A>T rs139606810 0.00363
NM_025136.4(OPA3):c.*6101A>G rs187296782 0.00363
NM_030777.4(SLC2A10):c.1212G>T (p.Gly404=) rs139155480 0.00363
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_032444.4(SLX4):c.5029C>T (p.Pro1677Ser) rs7196345 0.00363
NM_145068.4(TRPV3):c.*58C>T rs188455894 0.00363
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp) rs17227403 0.00362
NM_001048166.1(STIL):c.2384-13A>G rs140975915 0.00362
NM_001379081.2(FREM1):c.4377T>C (p.Asp1459=) rs148327330 0.00362
NM_005257.6(GATA6):c.1602A>G (p.Thr534=) rs146949786 0.00362
NM_005629.4(SLC6A8):c.1141+18G>A rs187400676 0.00362
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368 0.00361
NM_001040167.2(LFNG):c.481+3G>A rs141008352 0.00361
NM_001278716.2(FBXL4):c.*5A>G rs142988015 0.00361
NM_001365999.1(SZT2):c.4531G>A (p.Val1511Ile) rs76675748 0.00361
NM_002334.4(LRP4):c.2151C>T (p.Gly717=) rs114920029 0.00361
NM_002386.3(MC1R):c.-536C>T rs3212379 0.00361
NM_003924.4(PHOX2B):c.234C>T (p.Tyr78=) rs73810366 0.00361
NM_005045.4(RELN):c.5108C>G (p.Pro1703Arg) rs2229860 0.00361
NM_020779.4(WDR35):c.2414+20C>T rs116756504 0.00361
NM_025074.7(FRAS1):c.*258G>A rs114161007 0.00361
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032 0.00361
NM_000027.4(AGA):c.902T>C (p.Phe301Ser) rs35916166 0.00360
NM_000093.5(COL5A1):c.1333-8A>G rs145620416 0.00360
NM_000891.3(KCNJ2):c.*1350G>A rs116077770 0.00360
NM_024599.5(RHBDF2):c.-305C>G rs554316005 0.00360
NM_138959.3(VANGL1):c.*3742A>T rs115376031 0.00360
NM_000141.5(FGFR2):c.*184C>T rs4647917 0.00359
NM_000199.5(SGSH):c.701C>G (p.Ala234Gly) rs113641837 0.00359
NM_001282531.3(ADNP):c.2666G>C (p.Ser889Thr) rs34342624 0.00359
NM_001382391.1(CSPP1):c.100-13A>G rs78076942 0.00359
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
NM_005445.4(SMC3):c.2644+6T>A rs201281088 0.00359
NM_022725.4(FANCF):c.*461G>T rs45458698 0.00359
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909 0.00359
NM_005327.7(HADH):c.662G>A (p.Arg221His) rs76476980 0.00358
NM_017780.4(CHD7):c.8950C>T (p.Leu2984Phe) rs184814820 0.00358
NM_138959.3(VANGL1):c.330C>T (p.Tyr110=) rs41275546 0.00358
NM_001371986.1(UNC80):c.8589G>A (p.Ala2863=) rs192024023 0.00357
NM_002755.4(MAP2K1):c.927A>T (p.Ala309=) rs146869577 0.00357
NM_003573.2(LTBP4):c.79C>T (p.Leu27=) rs370696272 0.00357
NM_004560.4(ROR2):c.2285C>T (p.Ser762Leu) rs34491822 0.00357
NM_014846.4(WASHC5):c.2100G>A (p.Val700=) rs148936723 0.00357
NM_033159.4(HYAL1):c.323G>A (p.Arg108His) rs56962018 0.00357
NM_147127.5(EVC2):c.2601C>T (p.Ala867=) rs116514447 0.00357
NM_147127.5(EVC2):c.707-4G>A rs113806963 0.00357
NM_000052.7(ATP7A):c.491G>A (p.Ser164Asn) rs144655617 0.00356
NM_003334.4(UBA1):c.2328C>T (p.Tyr776=) rs145177450 0.00356
NM_005219.5(DIAPH1):c.3227T>G (p.Phe1076Cys) rs143763573 0.00356
NM_005996.4(TBX3):c.-29G>T rs56112787 0.00356
NM_194292.3(SASS6):c.1835G>A (p.Arg612His) rs143522528 0.00356
NM_001005498.4(RHBDF2):c.28A>C (p.Ser10Arg) rs80133178 0.00355
NM_001042492.3(NF1):c.2252-31A>T rs141082540 0.00355
NM_001079872.2(CUL4B):c.2161-15T>G rs183114462 0.00355
NM_001114753.3(ENG):c.120C>T (p.Gly40=) rs41522944 0.00355
NM_001278689.2(EOGT):c.783C>T (p.His261=) rs147327086 0.00355
NM_001626.6(AKT2):c.442-20A>G rs3730257 0.00355
NM_004004.6(GJB2):c.-6T>A rs148136545 0.00355
NM_004453.4(ETFDH):c.381C>T (p.Leu127=) rs149278633 0.00355
NM_015335.5(MED13L):c.2239-16T>C rs147314859 0.00355
NM_018062.4(FANCL):c.670A>G (p.Thr224Ala) rs149731356 0.00355
NM_032043.3(BRIP1):c.*1263A>G rs73991940 0.00355
NM_000431.4(MVK):c.769-7T>G rs104895331 0.00354
NM_001164508.2(NEB):c.19056G>T (p.Thr6352=) rs115631125 0.00354
NM_002880.4(RAF1):c.*495C>T rs12808 0.00354
NM_003282.4(TNNI2):c.453+3G>A rs200300133 0.00354
NM_005045.4(RELN):c.7538C>G (p.Ser2513Cys) rs114647348 0.00354
NM_005219.5(DIAPH1):c.891G>A (p.Pro297=) rs116463365 0.00354
NM_005327.4(HADH):c.-102G>A rs182097151 0.00354
NM_005996.4(TBX3):c.*12A>T rs150286184 0.00354
NM_017668.3(NDE1):c.486C>T (p.Leu162=) rs140251634 0.00354
NM_017780.4(CHD7):c.6282A>G (p.Gly2094=) rs41312172 0.00354
NM_020964.3(EPG5):c.18G>A (p.Lys6=) rs181345590 0.00354
NM_133433.4(NIPBL):c.6109-3T>C rs145778995 0.00354
NM_153717.3(EVC):c.1855G>A (p.Val619Ile) rs111293777 0.00354
NM_000719.7(CACNA1C):c.5360C>T (p.Thr1787Met) rs192749597 0.00353
NM_001101.5(ACTB):c.426G>T (p.Leu142=) rs79074016 0.00353
NM_001114753.3(ENG):c.1096G>C (p.Asp366His) rs1800956 0.00353
NM_001384732.1(CPLANE1):c.9138C>G (p.Pro3046=) rs16903511 0.00353
NM_004260.4(RECQL4):c.543G>A (p.Gln181=) rs34159914 0.00353
NM_006918.5(SC5D):c.*2265C>G rs140956982 0.00353
NM_013275.6(ANKRD11):c.893-19C>T rs117052164 0.00353
NM_000089.4(COL1A2):c.3849T>C (p.Thr1283=) rs34038163 0.00352
NM_000335.5(SCN5A):c.1381T>G (p.Leu461Val) rs41313697 0.00352
NM_001042492.3(NF1):c.4577+12C>T rs17878332 0.00352
NM_001374353.1(GLI2):c.4612T>C (p.Ser1538Pro) rs144372453 0.00352
NM_001384732.1(CPLANE1):c.8769A>G (p.Thr2923=) rs16903514 0.00352
NM_005465.7(AKT3):c.1416C>G (p.Ser472=) rs148332912 0.00352
NM_005477.3(HCN4):c.2657C>T (p.Ala886Val) rs200575377 0.00352
NM_005633.4(SOS1):c.*2983C>T rs190454003 0.00352
NM_005633.4(SOS1):c.2997T>C (p.Asn999=) rs145364368 0.00352
NM_022167.4(XYLT2):c.922C>T (p.Leu308=) rs138789012 0.00352
NM_000181.4(GUSB):c.216C>T (p.Gly72=) rs77774169 0.00351
NM_000414.4(HSD17B4):c.666C>G (p.Val222=) rs150677536 0.00351
NM_001032386.2(SUOX):c.629C>T (p.Pro210Leu) rs141735896 0.00351
NM_005491.5(MAMLD1):c.*126C>T rs147056898 0.00351
NM_005921.2(MAP3K1):c.3588A>C (p.Ser1196=) rs55912465 0.00351
NM_000335.5(SCN5A):c.4506C>T (p.Ser1502=) rs45548237 0.00350
NM_000489.6(ATRX):c.4635C>A (p.Thr1545=) rs148975763 0.00350
NM_000751.3(CHRND):c.1371+7G>T rs188395796 0.00350
NM_002470.4(MYH3):c.2683-4T>C rs182229640 0.00350
NM_002617.4(PEX10):c.621C>G (p.Pro207=) rs140107510 0.00350
NM_006939.4(SOS2):c.1344G>A (p.Leu448=) rs35530861 0.00350
NM_012186.3(FOXE3):c.898A>G (p.Ser300Gly) rs552420470 0.00350
NM_000027.4(AGA):c.394+19_394+20del rs575232762 0.00349
NM_000182.5(HADHA):c.1843A>G (p.Asn615Asp) rs61731155 0.00349
NM_001106.4(ACVR2B):c.*592C>T rs80046041 0.00349
NM_002076.4(GNS):c.1026G>A (p.Gln342=) rs115586725 0.00349
NM_003282.4(TNNI2):c.*94C>T rs117830156 0.00349
NM_022458.4(LMBR1):c.*36C>T rs79881605 0.00349
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_001134831.2(AHI1):c.517G>A (p.Ala173Thr) rs146416468 0.00348
NM_004370.6(COL12A1):c.3651C>T (p.Thr1217=) rs140319205 0.00348
NM_133259.4(LRPPRC):c.*1335T>C rs76970610 0.00348
NM_000368.5(TSC1):c.-99C>T rs114755636 0.00347
NM_000501.4(ELN):c.892G>A (p.Val298Ile) rs41526244 0.00347
NM_001852.4(COL9A2):c.*578C>T rs143152709 0.00347
NM_002693.3(POLG):c.1126C>T (p.Leu376=) rs116165908 0.00347
NM_003334.4(UBA1):c.1702C>G (p.Leu568Val) rs150574055 0.00347
NM_004004.6(GJB2):c.*786G>A rs187158699 0.00347
NM_004370.6(COL12A1):c.4335A>G (p.Lys1445=) rs113549828 0.00347
NM_005529.7(HSPG2):c.11294G>A (p.Ser3765Asn) rs114223739 0.00347
NM_022458.4(LMBR1):c.*100T>G rs111554843 0.00347
NM_000057.4(BLM):c.893C>T (p.Thr298Met) rs28384991 0.00346
NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met) rs2229817 0.00346
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg) rs34534613 0.00346
NM_005996.4(TBX3):c.1653C>T (p.Ser551=) rs201695541 0.00346
NM_018238.4(AGK):c.101+5C>T rs150421355 0.00346
NM_176787.5(PIGN):c.309T>C (p.Ala103=) rs17069511 0.00346
NM_000141.5(FGFR2):c.-358C>T rs41301545 0.00345
NM_001276345.2(TNNT2):c.53-47C>G rs45553832 0.00345
NM_002693.3(POLG):c.852C>T (p.Ile284=) rs41540414 0.00345
NM_003119.4(SPG7):c.1779+20G>A rs145805850 0.00345
NM_020297.4(ABCC9):c.2523C>T (p.Ala841=) rs144537241 0.00345
NM_080680.3(COL11A2):c.2520G>A (p.Arg840=) rs117237998 0.00345
NM_002471.4(MYH6):c.5475G>A (p.Glu1825=) rs79143968 0.00344
NM_005921.2(MAP3K1):c.834+9A>G rs73135067 0.00344
NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser) rs2234462 0.00344
NM_022369.4(STRA6):c.946G>A (p.Val316Met) rs150219390 0.00344
NM_153704.6(TMEM67):c.507-19T>C rs138589757 0.00344
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr) rs118203657 0.00343
NM_001010867.4(IBA57):c.980T>C (p.Ile327Thr) rs61745091 0.00343
NM_001018113.3(FANCB):c.1996G>A (p.Gly666Ser) rs145110602 0.00343
NM_017617.5(NOTCH1):c.2207+10G>A rs191892426 0.00343
NM_025215.6(PUS1):c.*253G>C rs59879353 0.00343
NM_152383.5(DIS3L2):c.702+10T>G rs184764939 0.00343
NM_001369268.1(ACAN):c.2247G>A (p.Val749=) rs137972043 0.00342
NM_004525.3(LRP2):c.149C>G (p.Thr50Ser) rs114460450 0.00342
NM_004782.4(SNAP29):c.72T>A (p.Pro24=) rs149837436 0.00342
NM_014140.4(SMARCAL1):c.1534G>A (p.Val512Met) rs35087810 0.00342
NM_022458.4(LMBR1):c.*3207T>G rs116521088 0.00342
NM_206937.2(LIG4):c.180C>T (p.Val60=) rs2232637 0.00342
NM_000108.5(DLD):c.1236+13A>G rs2701026 0.00341
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu) rs45441106 0.00341
NM_001303.4(COX10):c.*1324C>T rs75636595 0.00341
NM_003924.4(PHOX2B):c.*1126C>G rs118046131 0.00341
NM_015338.6(ASXL1):c.540C>T (p.Asn180=) rs74346706 0.00341
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=) rs61751538 0.00341
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly) rs113593896 0.00341
NM_147127.5(EVC2):c.2029C>A (p.Arg677=) rs73198165 0.00341
NM_174934.4(SCN4B):c.639C>T (p.Asn213=) rs72544155 0.00341
NM_000089.4(COL1A2):c.975A>T (p.Gly325=) rs148063325 0.00340
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=) rs148648778 0.00340
NM_001148.6(ANK2):c.9454A>G (p.Thr3152Ala) rs61741040 0.00340
NM_001367624.2(ZNF469):c.10472C>G (p.Pro3491Arg) rs183437633 0.00340
NM_001374828.1(ARID1B):c.4965C>T (p.Ile1655=) rs150010654 0.00340
NM_004525.3(LRP2):c.403G>A (p.Asp135Asn) rs142594441 0.00340
NM_014141.6(CNTNAP2):c.1311C>T (p.Ile437=) rs56356283 0.00340
NM_001999.4(FBN2):c.7824C>T (p.Thr2608=) rs28763922 0.00339
NM_024757.5(EHMT1):c.1743C>T (p.Arg581=) rs144513373 0.00339
NM_080680.3(COL11A2):c.2186G>A (p.Arg729Gln) rs61730262 0.00339
NM_000089.4(COL1A2):c.1036-14G>A rs114322680 0.00338
NM_000719.7(CACNA1C):c.3157-175C>T rs146526882 0.00338
NM_001854.4(COL11A1):c.3979-14A>T rs186245518 0.00338
NM_004064.5(CDKN1B):c.577C>T (p.Leu193Phe) rs73281150 0.00338
NM_012414.4(RAB3GAP2):c.3924G>C (p.Thr1308=) rs73098539 0.00338
NM_020806.5(GPHN):c.1414-4A>C rs111956954 0.00338
NM_022095.4(ZNF335):c.3488-6G>A rs201983124 0.00338
NM_001278689.2(EOGT):c.1237C>T (p.Leu413=) rs115592862 0.00337
NM_001365276.2(TNXB):c.11417A>G (p.Gln3806Arg) rs2395085 0.00337
NM_005055.5(RAPSN):c.162G>A (p.Ser54=) rs72905825 0.00337
NM_005592.4(MUSK):c.320G>A (p.Gly107Glu) rs55786136 0.00337
NM_013275.6(ANKRD11):c.601+7A>G rs202074713 0.00337
NM_016938.5(EFEMP2):c.368-18G>A rs80047413 0.00337
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser) rs139600783 0.00337
NM_145020.5(CFAP53):c.115A>C (p.Arg39=) rs112087763 0.00337
NM_000512.5(GALNS):c.1443C>T (p.Pro481=) rs147536058 0.00336
NM_001011658.4(TRAPPC2):c.*393G>C rs748998980 0.00336
NM_001148.6(ANK2):c.2970A>C (p.Arg990=) rs35956627 0.00336
NM_015311.3(OBSL1):c.4067-12C>T rs144059707 0.00336
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=) rs34355306 0.00335
NM_002880.4(RAF1):c.*190G>A rs528863135 0.00335
NM_000044.6(AR):c.1788C>T (p.Cys596=) rs150303722 0.00334
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr) rs75501942 0.00334
NM_000414.4(HSD17B4):c.-28C>T rs34353289 0.00334
NM_001025295.3(IFITM5):c.278C>T (p.Thr93Met) rs141240817 0.00334
NM_001101.5(ACTB):c.-6-4G>T rs13447394 0.00334
NM_001985.3(ETFB):c.447C>T (p.Phe149=) rs144640661 0.00334
NM_005445.4(SMC3):c.*332A>G rs117538515 0.00334
NM_005629.4(SLC6A8):c.1437C>T (p.Ser479=) rs140115896 0.00334
NM_017617.5(NOTCH1):c.5226C>T (p.Ala1742=) rs116316039 0.00334
NM_024596.5(MCPH1):c.989A>G (p.Tyr330Cys) rs115088000 0.00334
NM_052989.3(IFT122):c.1908T>C (p.Ile636=) rs139722192 0.00334
NM_147127.5(EVC2):c.1224C>T (p.Ala408=) rs114629810 0.00334
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219 0.00333
NM_004484.4(GPC3):c.1285G>A (p.Val429Met) rs11539789 0.00333
NM_018136.5(ASPM):c.6775T>C (p.Leu2259=) rs140922974 0.00333
NM_032444.4(SLX4):c.1802C>T (p.Ser601Leu) rs59706816 0.00333
NM_001267550.2(TTN):c.14698G>A (p.Ala4900Thr) rs72648923 0.00332
NM_025215.6(PUS1):c.345C>T (p.Asp115=) rs145798848 0.00332
NM_032520.5(GNPTG):c.910A>G (p.Ser304Gly) rs7187001 0.00332
NM_138295.5(PKD1L1):c.2599C>T (p.Leu867=) rs150638179 0.00332
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala) rs72667032 0.00331
NM_001083962.2(TCF4):c.*1903G>A rs117913194 0.00331
NM_001365951.3(KIF1B):c.*2732G>C rs190725532 0.00331
NM_006031.6(PCNT):c.9720G>A (p.Pro3240=) rs141991283 0.00331
NM_152564.5(VPS13B):c.2275G>C (p.Val759Leu) rs140848350 0.00331
NM_000493.4(COL10A1):c.1851T>C (p.Asn617=) rs61745148 0.00330
NM_004629.2(FANCG):c.238C>T (p.Leu80=) rs115131067 0.00330
NM_005515.4(MNX1):c.234G>A (p.Pro78=) rs867731047 0.00330
NM_014141.6(CNTNAP2):c.2892G>A (p.Ser964=) rs148104020 0.00330
NM_153603.4(COG7):c.534G>A (p.Glu178=) rs80204521 0.00330
NM_000493.4(COL10A1):c.625G>A (p.Gly209Ser) rs146114911 0.00329
NM_000514.4(GDNF):c.540A>G (p.Arg180=) rs112417561 0.00329
NM_000900.5(MGP):c.157A>G (p.Lys53Glu) rs1801716 0.00329
NM_001001433.3(STX16):c.*2183G>A rs147429412 0.00329
NM_001039958.2(MESP2):c.717G>C (p.Gly239=) rs181559095 0.00329
NM_001122630.2(CDKN1C):c.-132G>A rs147317732 0.00329
NM_006015.6(ARID1A):c.2541C>A (p.Ile847=) rs151274586 0.00329
NM_012186.3(FOXE3):c.601G>A (p.Val201Met) rs530072475 0.00329
NM_014918.5(CHSY1):c.1325T>C (p.Met442Thr) rs148193087 0.00329
NM_025114.4(CEP290):c.5322C>T (p.Leu1774=) rs117370446 0.00329
NM_139125.4(MASP1):c.1552G>A (p.Val518Ile) rs73068950 0.00329
NM_000302.4(PLOD1):c.1534C>T (p.Arg512Cys) rs138490756 0.00328
NM_000528.4(MAN2B1):c.1581G>A (p.Arg527=) rs149613968 0.00328
NM_001386795.1(DTNA):c.1435-19T>C rs141620769 0.00328
NM_012082.4(ZFPM2):c.2287G>A (p.Val763Ile) rs117908591 0.00328
NM_015443.4(KANSL1):c.773T>C (p.Leu258Ser) rs145714368 0.00328
NM_024537.4(CARS2):c.64G>A (p.Gly22Arg) rs534818713 0.00328
NM_152564.5(VPS13B):c.*655G>C rs78305289 0.00328
NM_000044.6(AR):c.1743G>A (p.Lys581=) rs6154 0.00327
NM_000501.4(ELN):c.921A>G (p.Ala307=) rs6979788 0.00327
NM_000891.3(KCNJ2):c.*79C>T rs55970278 0.00327
NM_001148.6(ANK2):c.10861C>G (p.Leu3621Val) rs45570339 0.00327
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn) rs78727187 0.00327
NM_002334.4(LRP4):c.2506+18G>A rs148998354 0.00327
NM_005257.6(GATA6):c.222G>A (p.Pro74=) rs374402554 0.00327
NM_015311.3(OBSL1):c.3390T>C (p.Gly1130=) rs200777549 0.00327
NM_020751.3(COG6):c.1180A>G (p.Asn394Asp) rs34623774 0.00327
NM_001122681.2(SH3BP2):c.1332G>A (p.Ser444=) rs34668322 0.00326
NM_001308093.3(GATA4):c.1235C>T (p.Ala412Val) rs55633527 0.00326
NM_001365276.2(TNXB):c.3445+8A>G rs201624002 0.00326
NM_002860.4(ALDH18A1):c.2001G>A (p.Glu667=) rs78731297 0.00326
NM_004525.3(LRP2):c.6967C>T (p.Leu2323=) rs149367019 0.00326
NM_006306.4(SMC1A):c.855-15C>T rs147791932 0.00326
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu) rs144420697 0.00325
NM_001374353.1(GLI2):c.2037A>G (p.Ala679=) rs146059306 0.00325
NM_003413.4(ZIC3):c.912G>A (p.Arg304=) rs10126585 0.00325
NM_005732.4(RAD50):c.3153G>A (p.Leu1051=) rs35800931 0.00325
NM_007129.5(ZIC2):c.213G>A (p.Pro71=) rs189469383 0.00325
NM_022725.4(FANCF):c.199A>C (p.Arg67=) rs146647469 0.00325
NM_147127.5(EVC2):c.2621G>A (p.Arg874Gln) rs114764023 0.00325
NM_001174147.2(LMX1B):c.*3716C>G rs147614955 0.00324
NM_004565.3(PEX14):c.349G>T (p.Ala117Ser) rs12061667 0.00324
NM_006329.4(FBLN5):c.620-8T>C rs147699855 0.00324
NM_014244.5(ADAMTS2):c.2751-4G>A rs112155474 0.00324
NM_022336.4(EDAR):c.*2078T>C rs115501541 0.00324
NM_139057.4(ADAMTS17):c.441C>G (p.Ala147=) rs375900400 0.00324
NM_001101.5(ACTB):c.951C>T (p.Ile317=) rs13447408 0.00323
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser) rs78540316 0.00323
NM_003849.4(SUCLG1):c.825+18A>G rs143229361 0.00323
NM_020964.3(EPG5):c.5653T>C (p.Leu1885=) rs114131140 0.00323
NM_025215.6(PUS1):c.999G>C (p.Leu333=) rs150359622 0.00323
NM_000135.4(FANCA):c.1626+16C>T rs1800333 0.00322
NM_000503.6(EYA1):c.*784T>C rs77243350 0.00322
NM_001005498.4(RHBDF2):c.1495G>T (p.Asp499Tyr) rs11553545 0.00322
NM_001113378.2(FANCI):c.2883A>G (p.Gln961=) rs11556721 0.00322
NM_003036.4(SKI):c.1410C>T (p.Pro470=) rs150985728 0.00322
NM_004525.3(LRP2):c.2933C>T (p.Thr978Met) rs114842875 0.00322
NM_014165.4(NDUFAF4):c.40C>A (p.Leu14Ile) rs145392673 0.00322
NM_015272.5(RPGRIP1L):c.1340T>C (p.Leu447Ser) rs138155747 0.00322
NM_018062.4(FANCL):c.112C>T (p.Leu38Phe) rs55849827 0.00322
NM_020458.4(TTC7A):c.176C>G (p.Pro59Arg) rs201805434 0.00322
NM_022552.5(DNMT3A):c.1279+18G>A rs199507359 0.00322
NM_058216.3(RAD51C):c.186A>G (p.Gln62=) rs28363303 0.00322
NM_000308.4(CTSA):c.1287G>A (p.Lys429=) rs41282776 0.00321
NM_001127671.2(LIFR):c.789A>G (p.Val263=) rs141925289 0.00321
NM_001365276.2(TNXB):c.4562C>T (p.Ala1521Val) rs146120469 0.00321
NM_001369268.1(ACAN):c.186C>T (p.Thr62=) rs191648646 0.00321
NM_005633.4(SOS1):c.*2517C>T rs150628082 0.00321
NM_022356.4(P3H1):c.1930C>A (p.Gln644Lys) rs3738497 0.00321
NM_170707.4(LMNA):c.357C>T (p.Arg119=) rs41313880 0.00321
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756 0.00320
NM_001367624.2(ZNF469):c.6489G>A (p.Gln2163=) rs572299080 0.00320
NM_004380.3(CREBBP):c.333C>T (p.Asn111=) rs150229705 0.00320
NM_005359.6(SMAD4):c.*5259A>T rs139414609 0.00320
NM_015631.6(TCTN3):c.21G>A (p.Ala7=) rs61737888 0.00320
NM_020937.4(FANCM):c.2190A>G (p.Gln730=) rs117392855 0.00320
NM_025215.6(PUS1):c.621G>A (p.Thr207=) rs142044204 0.00320
NM_147127.5(EVC2):c.2648C>T (p.Ala883Val) rs140951974 0.00320
NM_147127.5(EVC2):c.864C>T (p.Asn288=) rs144730069 0.00320
NM_000493.4(COL10A1):c.*1042A>G rs150549737 0.00319
NM_001122681.2(SH3BP2):c.*1910C>T rs553613222 0.00319
NM_005045.4(RELN):c.565C>T (p.His189Tyr) rs115806540 0.00319
NM_005529.7(HSPG2):c.12220C>T (p.Arg4074Cys) rs140139732 0.00319
NM_005633.4(SOS1):c.*1309A>G rs145273962 0.00319
NM_006121.4(KRT1):c.592-8G>A rs147622831 0.00319
NM_017617.5(NOTCH1):c.1669+13G>A rs147260092 0.00319
NM_147127.5(EVC2):c.1471-7T>C rs150842594 0.00319
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp) rs41511151 0.00318
NM_001106.4(ACVR2B):c.*1375C>T rs193122447 0.00318
NM_001379200.1(TBX1):c.471C>T (p.Phe157=) rs139776757 0.00318
NM_003172.4(SURF1):c.834-13T>C rs139870012 0.00318
NM_004333.6(BRAF):c.1227A>G (p.Ser409=) rs145035762 0.00318
NM_006306.4(SMC1A):c.*4887T>C rs142173620 0.00318
NM_012233.3(RAB3GAP1):c.*1826G>C rs114264557 0.00318
NM_012414.4(RAB3GAP2):c.*925C>T rs185747953 0.00318
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys) rs35136134 0.00318
NM_020937.4(FANCM):c.3547T>C (p.Leu1183=) rs142667852 0.00318
NM_000238.4(KCNH2):c.542G>A (p.Arg181Gln) rs41308954 0.00317
NM_001001433.3(STX16):c.*2199C>T rs139818778 0.00317
NM_001374353.1(GLI2):c.2211G>T (p.Arg737=) rs142856393 0.00317
NM_018718.3(CEP41):c.*2482A>T rs189091601 0.00317
NM_024312.5(GNPTAB):c.1500C>T (p.Asn500=) rs77597686 0.00317
NM_033337.3(CAV3):c.233C>T (p.Thr78Met) rs72546668 0.00317
NC_000001.11:g.230710441G>A rs34829218 0.00316
NM_000789.4(ACE):c.1681C>T (p.Arg561Trp) rs4314 0.00316
NM_001018115.3(FANCD2):c.1336C>G (p.Leu446Val) rs34557223 0.00316
NM_001368067.1(LDB3):c.546T>C (p.Ser182=) rs71473272 0.00316
NM_001368809.2(AMPD2):c.1242C>T (p.Tyr414=) rs114727970 0.00316
NM_002968.3(SALL1):c.472A>G (p.Ser158Gly) rs139646526 0.00316
NM_020937.4(FANCM):c.4222+7T>G rs148675704 0.00316
NM_138295.5(PKD1L1):c.2220C>T (p.Leu740=) rs143353908 0.00316
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val) rs41306397 0.00315
NM_000203.5(IDUA):c.1345C>A (p.His449Asn) rs532731688 0.00315
NM_002449.5(MSX2):c.*723A>C rs115604243 0.00315
NM_003482.4(KMT2D):c.6180C>T (p.Tyr2060=) rs186577948 0.00315
NM_025136.4(OPA3):c.*80G>T rs540023428 0.00315
NM_000493.4(COL10A1):c.*790T>G rs190088189 0.00314
NM_001329943.3(KIAA0586):c.4047G>A (p.Ala1349=) rs61729923 0.00314
NM_001379081.2(FREM1):c.5212C>A (p.Leu1738Met) rs138267253 0.00314
NM_002334.4(LRP4):c.1828C>T (p.Arg610Cys) rs150253578 0.00314
NM_005857.5(ZMPSTE24):c.453A>G (p.Glu151=) rs115755400 0.00314
NM_017617.5(NOTCH1):c.2769A>G (p.Thr923=) rs201985795 0.00314
NM_001329943.3(KIAA0586):c.1570T>A (p.Leu524Ile) rs61742715 0.00313
NM_004260.4(RECQL4):c.3337G>C (p.Gly1113Arg) rs35101495 0.00313
NM_004614.5(TK2):c.*1959G>A rs145016391 0.00313
NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met) rs143543800 0.00313
NM_018451.5(CPAP):c.*570T>C rs139596189 0.00313
NM_000093.5(COL5A1):c.573C>T (p.Leu191=) rs116715381 0.00312
NM_000284.4(PDHA1):c.510+12C>T rs201869402 0.00312
NM_000346.4(SOX9):c.276G>T (p.Pro92=) rs139490970 0.00312
NM_001110219.3(GJB6):c.339T>A (p.Asn113Lys) rs143766955 0.00312
NM_001374828.1(ARID1B):c.3768C>T (p.Thr1256=) rs142391292 0.00312
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309 0.00312
NM_005529.7(HSPG2):c.13088C>T (p.Ser4363Leu) rs62642502 0.00312
NM_030632.3(ASXL3):c.2457T>C (p.Ala819=) rs199974440 0.00312
NM_152564.5(VPS13B):c.11071G>A (p.Ala3691Thr) rs142476821 0.00312
NM_000126.4(ETFA):c.562+11A>T rs143834701 0.00311
NM_001114753.3(ENG):c.1452C>T (p.Ser484=) rs115450389 0.00311
NM_001114753.3(ENG):c.1510G>A (p.Val504Met) rs116330805 0.00311
NM_012082.4(ZFPM2):c.292G>A (p.Asp98Asn) rs202217256 0.00311
NM_000036.3(AMPD1):c.99A>G (p.Gly33=) rs61752480 0.00310
NM_000089.4(COL1A2):c.122G>A (p.Arg41His) rs139528613 0.00310
NM_000165.5(GJA1):c.-67C>G rs111581053 0.00310
NM_000493.4(COL10A1):c.*196T>C rs182209892 0.00310
NM_000553.6(WRN):c.95A>G (p.Lys32Arg) rs34477820 0.00310
NM_001083961.2(WDR62):c.3812C>T (p.Ala1271Val) rs111294536 0.00310
NM_001374828.1(ARID1B):c.2187C>T (p.Pro729=) rs146240413 0.00310
NM_004560.4(ROR2):c.937+10C>T rs201083970 0.00310
NM_004656.4(BAP1):c.1002A>G (p.Leu334=) rs28997577 0.00310
NM_005445.4(SMC3):c.92-19A>G rs140102981 0.00310
NM_005996.4(TBX3):c.-251G>A rs9805019 0.00310
NM_017946.4(FKBP14):c.34C>G (p.Leu12Val) rs112905680 0.00310
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_032634.4(PIGO):c.2268G>A (p.Ala756=) rs149171782 0.00310
NM_145020.5(CFAP53):c.57A>G (p.Lys19=) rs180778332 0.00310
NM_145054.5(CFAP52):c.1320+18T>C rs73975757 0.00310
NM_000308.4(CTSA):c.880G>A (p.Asp294Asn) rs142892564 0.00309
NM_000368.5(TSC1):c.*3729G>T rs543396172 0.00309
NM_001042492.3(NF1):c.340C>T (p.Leu114=) rs7207410 0.00309
NM_001122681.2(SH3BP2):c.*5329C>A rs183166539 0.00309
NM_001365276.2(TNXB):c.6811G>C (p.Val2271Leu) rs140770834 0.00309
NM_005857.5(ZMPSTE24):c.*521A>G rs75622994 0.00309
NM_012123.4(MTO1):c.1086C>G (p.Ile362Met) rs147329295 0.00309
NM_032861.4(SERAC1):c.62C>T (p.Pro21Leu) rs147194699 0.00309
NM_170707.4(LMNA):c.811-13T>A rs80356809 0.00309
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490 0.00308
NM_003722.5(TP63):c.*1939T>G rs567626735 0.00308
NM_015937.6(PIGT):c.1061C>T (p.Ala354Val) rs146896700 0.00308
NM_017617.5(NOTCH1):c.4827C>T (p.Asp1609=) rs113634293 0.00308
NM_020964.3(EPG5):c.5700T>C (p.Phe1900=) rs34545102 0.00308
NM_024537.4(CARS2):c.1128C>T (p.Asp376=) rs142070578 0.00308
NM_198525.3(KIF7):c.2501A>G (p.Gln834Arg) rs138354681 0.00308
NM_001134831.2(AHI1):c.1791C>T (p.Ile597=) rs150425546 0.00307
NM_001134831.2(AHI1):c.724C>T (p.Pro242Ser) rs143522987 0.00307
NM_001203.3(BMPR1B):c.*2962T>G rs559802311 0.00307
NM_002334.4(LRP4):c.1551T>C (p.Ala517=) rs150777198 0.00307
NM_002693.3(POLG):c.2481-7C>T rs2307448 0.00307
NM_004260.4(RECQL4):c.2377C>T (p.Pro793Ser) rs35098923 0.00307
NM_004380.3(CREBBP):c.2941G>A (p.Ala981Thr) rs61753380 0.00307
NM_017617.5(NOTCH1):c.5445C>T (p.Asp1815=) rs61751535 0.00307
NM_032444.4(SLX4):c.4241C>T (p.Pro1414Leu) rs140892471 0.00307
NM_198173.3(GRHL3):c.507T>C (p.Asp169=) rs35868286 0.00307
NM_198525.3(KIF7):c.1429G>A (p.Ala477Thr) rs527804875 0.00307
NM_000233.4(LHCGR):c.606-5C>T rs78135094 0.00306
NM_000393.5(COL5A2):c.198T>C (p.Asn66=) rs76511879 0.00306
NM_001127671.2(LIFR):c.2498-7G>A rs113078097 0.00306
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152 0.00306
NM_023110.3(FGFR1):c.-209G>C rs572216432 0.00306
NM_145068.3(TRPV3):c.-226G>C rs187117947 0.00306
NM_000512.5(GALNS):c.759-67G>A rs565875595 0.00305
NM_000751.3(CHRND):c.1105C>T (p.Pro369Ser) rs2229194 0.00305
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_007373.4(SHOC2):c.-159T>C rs72819758 0.00305
NM_014704.4(CEP104):c.1308A>T (p.Gly436=) rs148455387 0.00305
NM_014795.4(ZEB2):c.403+18C>T rs116404871 0.00305
NM_021625.5(TRPV4):c.*378G>C rs538255561 0.00305
NM_025114.4(CEP290):c.6960+10G>A rs75011402 0.00305
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_001374828.1(ARID1B):c.4812T>G (p.Pro1604=) rs141783755 0.00304
NM_002834.5(PTPN11):c.*325G>A rs192080780 0.00304
NM_004304.5(ALK):c.2268C>T (p.Gly756=) rs149853746 0.00304
NM_004656.4(BAP1):c.1026C>T (p.Ser342=) rs71651686 0.00304
NM_005529.7(HSPG2):c.3336C>T (p.Pro1112=) rs2228348 0.00304
NM_005633.4(SOS1):c.2673+14T>C rs183998234 0.00304
NM_007118.4(TRIO):c.5496+34G>A rs62345056 0.00304
NM_015450.3(POT1):c.903G>T (p.Gln301His) rs116916706 0.00304
NM_022166.4(XYLT1):c.2226C>T (p.Val742=) rs139693964 0.00304
NM_152383.5(DIS3L2):c.*13G>A rs200467865 0.00304
NM_152564.5(VPS13B):c.7678G>A (p.Glu2560Lys) rs111751379 0.00304
NM_000057.4(BLM):c.2160C>T (p.Ile720=) rs28385028 0.00303
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg) rs13336566 0.00303
NM_000280.4(PAX6):c.*3168C>T rs187705792 0.00303
NM_001354604.2(MITF):c.*2580C>T rs139487027 0.00303
NM_001378964.1(CDON):c.2923G>A (p.Val975Ile) rs113921147 0.00303
NM_003923.2(FOXH1):c.-333T>C rs147276162 0.00303
NM_004484.4(GPC3):c.1167-8T>C rs182950534 0.00303
NM_005751.5(AKAP9):c.8485G>A (p.Glu2829Lys) rs149946443 0.00303
NM_006218.4(PIK3CA):c.1143C>G (p.Pro381=) rs72561481 0.00303
NM_017777.4(MKS1):c.213C>G (p.Asp71Glu) rs142813109 0.00303
NM_021926.4(ALX4):c.*2244G>A rs183882854 0.00303
NM_145861.4(EDARADD):c.*417G>A rs189781826 0.00303
NM_001106.4(ACVR2B):c.811-12G>A rs144849143 0.00302
NM_001368809.2(AMPD2):c.1716C>T (p.Ser572=) rs116415979 0.00302
NM_022336.4(EDAR):c.319A>G (p.Met107Val) rs61761321 0.00302
NM_032444.4(SLX4):c.3857C>T (p.Ala1286Val) rs149011965 0.00302
NM_001106.4(ACVR2B):c.*204C>T rs183119680 0.00301
NM_003620.4(PPM1D):c.1017+51A>G rs144142345 0.00301
NM_005592.4(MUSK):c.80-8C>T rs199705752 0.00301
NM_181486.4(TBX5):c.1234G>A (p.Val412Ile) rs114124210 0.00301
NM_000751.3(CHRND):c.117C>G (p.Asn39Lys) rs77084550 0.00300
NM_000890.5(KCNJ5):c.121C>T (p.Arg41Cys) rs115012103 0.00300
NM_001005498.4(RHBDF2):c.*711A>G rs137910466 0.00300
NM_001110219.3(GJB6):c.489G>A (p.Leu163=) rs35002004 0.00300
NM_005045.4(RELN):c.5923G>A (p.Gly1975Ser) rs114807343 0.00300
NM_005045.4(RELN):c.7086C>T (p.Thr2362=) rs362747 0.00300
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu) rs28903085 0.00300
NM_006265.3(RAD21):c.786C>T (p.Asp262=) rs34653007 0.00300
NM_014141.6(CNTNAP2):c.3585G>A (p.Arg1195=) rs77789547 0.00300
NM_020937.4(FANCM):c.5577T>C (p.Asn1859=) rs113831595 0.00300
NM_020975.6(RET):c.*1583G>A rs192065891 0.00300
NM_022095.4(ZNF335):c.103G>T (p.Val35Leu) rs114356103 0.00300
NM_145691.4(ATPAF2):c.*130T>C rs117739515 0.00300
NM_001122681.2(SH3BP2):c.1514C>G (p.Ser505Cys) rs144577122 0.00299
NM_001985.3(ETFB):c.58-212A>C rs143144671 0.00299
NM_003477.3(PDHX):c.*27A>C rs74524673 0.00299
NM_006218.4(PIK3CA):c.1788A>G (p.Glu596=) rs137902538 0.00299
NM_006767.4(LZTR1):c.2373C>T (p.His791=) rs148993324 0.00299
NM_025077.4(TOE1):c.-45G>A rs2275602 0.00299
NM_052989.3(IFT122):c.321A>G (p.Gln107=) rs138793724 0.00299
NM_145068.4(TRPV3):c.1105C>T (p.Arg369Trp) rs116535534 0.00299
NM_000141.5(FGFR2):c.1572A>G (p.Thr524=) rs74160613 0.00298
NM_002427.4(MMP13):c.799+7C>T rs72987505 0.00298
NM_003611.3(OFD1):c.1923G>A (p.Glu641=) rs145300245 0.00298
NM_004064.5(CDKN1B):c.*833T>A rs141549130 0.00298
NM_004525.3(LRP2):c.10937G>A (p.Arg3646His) rs142549310 0.00298
NM_005751.5(AKAP9):c.2425A>G (p.Ile809Val) rs144615758 0.00298
NM_005751.5(AKAP9):c.7275G>A (p.Gln2425=) rs61757672 0.00298
NM_006265.3(RAD21):c.1515C>G (p.Pro505=) rs9297560 0.00298
NM_018249.6(CDK5RAP2):c.*264G>A rs181859642 0.00298
NM_000396.4(CTSK):c.675A>G (p.Arg225=) rs41271965 0.00297
NM_000431.4(MVK):c.226+4A>G rs145732290 0.00297
NM_000501.4(ELN):c.1279C>G (p.Pro427Ala) rs144341345 0.00297
NM_001347721.2(DYRK1A):c.208-40C>G rs140466090 0.00297
NM_001367561.1(DOCK7):c.2859+12A>G rs201742189 0.00297
NM_003238.6(TGFB2):c.272G>A (p.Arg91His) rs10482721 0.00297
NM_003482.4(KMT2D):c.13644C>T (p.Ser4548=) rs201119371 0.00297
NM_004565.3(PEX14):c.299-16C>T rs201545377 0.00297
NM_014423.4(AFF4):c.554A>T (p.Gln185Leu) rs137880283 0.00297
NM_021922.3(FANCE):c.1510-11C>T rs189384185 0.00297
NM_001122681.2(SH3BP2):c.*2359A>G rs142370591 0.00296
NM_001360.3(DHCR7):c.1341C>T (p.Asp447=) rs139721775 0.00296
NM_001365276.2(TNXB):c.10060C>T (p.Pro3354Ser) rs140530599 0.00296
NM_002470.4(MYH3):c.2926-8C>T rs188588330 0.00296
NM_004260.4(RECQL4):c.3313G>A (p.Gly1105Ser) rs34915097 0.00296
NM_004525.3(LRP2):c.5538+10C>T rs115659204 0.00296
NM_005751.5(AKAP9):c.10858A>G (p.Ile3620Val) rs142729919 0.00296
NM_012082.4(ZFPM2):c.533-4A>T rs138466839 0.00296
NM_015103.3(PLXND1):c.2263A>G (p.Thr755Ala) rs112755880 0.00296
NM_025074.7(FRAS1):c.8832C>T (p.Ser2944=) rs114854941 0.00296
NM_181486.4(TBX5):c.*480G>A rs569991822 0.00296
NM_001079866.2(BCS1L):c.613G>A (p.Val205Ile) rs148278887 0.00295
NM_001382391.1(CSPP1):c.1798C>G (p.Gln600Glu) rs73693125 0.00295
NM_002880.4(RAF1):c.*160C>T rs5746246 0.00295
NM_003482.4(KMT2D):c.2074C>A (p.Pro692Thr) rs202076833 0.00295
NM_003722.5(TP63):c.1531C>A (p.Pro511Thr) rs148076109 0.00295
NM_015335.5(MED13L):c.1725G>A (p.Ser575=) rs77263223 0.00295
NM_015681.6(B9D1):c.237C>G (p.Pro79=) rs149051059 0.00295
NM_020964.3(EPG5):c.2063T>C (p.Phe688Ser) rs61978576 0.00295
NM_000141.5(FGFR2):c.-74G>A rs4647922 0.00294
NM_003482.4(KMT2D):c.12867C>T (p.Leu4289=) rs202082835 0.00294
NM_020754.4(ARHGAP31):c.654C>T (p.Asn218=) rs145326425 0.00294
NM_022356.4(P3H1):c.1473+5G>T rs114044880 0.00294
NM_147127.5(EVC2):c.1954A>G (p.Ile652Val) rs144670544 0.00294
NM_000238.4(KCNH2):c.3152+12C>A rs72549420 0.00293
NM_000262.3(NAGA):c.25C>T (p.Leu9=) rs147528904 0.00293
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=) rs28903094 0.00293
NM_012082.4(ZFPM2):c.89A>G (p.Glu30Gly) rs121908601 0.00293
NM_021926.4(ALX4):c.*997C>G rs192668810 0.00293
NM_001106.4(ACVR2B):c.*394G>A rs115298793 0.00292
NM_007078.3(LDB3):c.163G>A (p.Val55Ile) rs3740343 0.00292
NM_000540.3(RYR1):c.8360C>G (p.Thr2787Ser) rs35180584 0.00291
NM_001371623.1(TCOF1):c.1281G>A (p.Ala427=) rs113299143 0.00291
NM_002470.4(MYH3):c.4098T>C (p.Asn1366=) rs138944611 0.00291
NM_003072.5(SMARCA4):c.1740A>G (p.Lys580=) rs114391904 0.00291
NM_003072.5(SMARCA4):c.589C>T (p.Pro197Ser) rs200664441 0.00291
NM_004187.5(KDM5C):c.1236C>T (p.Pro412=) rs147546892 0.00291
NM_005045.4(RELN):c.6228C>T (p.Ser2076=) rs115379833 0.00291
NM_017617.5(NOTCH1):c.5384+13C>T rs112582298 0.00291
NM_145691.4(ATPAF2):c.722A>G (p.Glu241Gly) rs34607655 0.00291
NM_176787.5(PIGN):c.528G>A (p.Thr176=) rs144304758 0.00291
NM_000348.4(SRD5A2):c.548-18C>T rs28383063 0.00290
NM_000493.4(COL10A1):c.*653T>C rs186316373 0.00290
NM_001351132.2(PEX5):c.1053G>A (p.Leu351=) rs61740909 0.00290
NM_001367561.1(DOCK7):c.1047C>T (p.Val349=) rs139793443 0.00290
NM_001382391.1(CSPP1):c.484-15T>G rs199671558 0.00290
NM_002968.3(SALL1):c.1904C>T (p.Pro635Leu) rs146454164 0.00290
NM_005236.3(ERCC4):c.2724C>T (p.Val908=) rs3136225 0.00290
NM_005996.4(TBX3):c.*366A>T rs184058660 0.00290
NM_012082.4(ZFPM2):c.1276G>A (p.Ala426Thr) rs35843564 0.00290
NM_017780.4(CHD7):c.856A>G (p.Arg286Gly) rs61995713 0.00290
NM_020436.5(SALL4):c.2215G>T (p.Ala739Ser) rs41274696 0.00290
NM_031483.7(ITCH):c.246T>C (p.Arg82=) rs3761146 0.00290
NM_000203.5(IDUA):c.346G>A (p.Gly116Arg) rs148946496 0.00289
NM_000238.4(KCNH2):c.621C>T (p.Ser207=) rs41314417 0.00289
NM_004551.3(NDUFS3):c.591T>C (p.Pro197=) rs77113494 0.00289
NM_005751.5(AKAP9):c.9648A>G (p.Lys3216=) rs146710448 0.00289
NM_006031.6(PCNT):c.6933C>T (p.Val2311=) rs148444313 0.00289
NM_014704.4(CEP104):c.490-18G>A rs150128798 0.00289
NM_017617.5(NOTCH1):c.5673C>T (p.Ser1891=) rs2229972 0.00289
NM_017617.5(NOTCH1):c.7338G>A (p.Leu2446=) rs35320927 0.00289
NM_000093.5(COL5A1):c.240C>T (p.Asp80=) rs79724538 0.00288
NM_000501.4(ELN):c.1828G>A (p.Gly610Ser) rs140425210 0.00288
NM_001394062.1(MACF1):c.14476T>C (p.Leu4826=) rs72661966 0.00288
NM_001429.4(EP300):c.1623-20T>C rs151092312 0.00288
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780 0.00288
NM_006306.4(SMC1A):c.*3421G>T rs41304780 0.00288
NM_182943.3(PLOD2):c.2106G>C (p.Val702=) rs147997412 0.00288
NM_000348.4(SRD5A2):c.594C>T (p.Ile198=) rs28383064 0.00287
NM_001614.5(ACTG1):c.714G>A (p.Lys238=) rs11549173 0.00287
NM_001614.5(ACTG1):c.780G>A (p.Ala260=) rs140846345 0.00287
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr) rs28763926 0.00287
NM_004260.4(RECQL4):c.3058G>A (p.Val1020Met) rs114149451 0.00287
NM_004380.3(CREBBP):c.2572C>T (p.Pro858Ser) rs145733598 0.00287
NM_005045.4(RELN):c.3651C>G (p.Ile1217Met) rs56342240 0.00287
NM_005045.4(RELN):c.906C>T (p.Ala302=) rs114494558 0.00287
NM_005445.4(SMC3):c.255A>G (p.Ser85=) rs146433240 0.00287
NM_020529.3(NFKBIA):c.581G>C (p.Gly194Ala) rs148656104 0.00287
NM_025265.4(TSEN2):c.1389C>T (p.Asp463=) rs75288720 0.00287
NM_181458.4(PAX3):c.525G>C (p.Lys175Asn) rs116473352 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_147127.5(EVC2):c.122C>A (p.Pro41His) rs544397395 0.00286
NM_000168.6(GLI3):c.*1080G>A rs58924064 0.00285
NM_000368.5(TSC1):c.*1902T>G rs142038787 0.00285
NM_000719.7(CACNA1C):c.3829-954C>T rs570378412 0.00285
NM_001374353.1(GLI2):c.2967C>T (p.Gly989=) rs373880077 0.00285
NM_001386795.1(DTNA):c.243A>G (p.Leu81=) rs146923532 0.00285
NM_003923.3(FOXH1):c.783T>C (p.Pro261=) rs151147114 0.00285
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met) rs61754061 0.00285
NM_004525.3(LRP2):c.2520A>G (p.Leu840=) rs114780253 0.00285
NM_004629.2(FANCG):c.640C>T (p.Arg214Cys) rs61757385 0.00285
NM_013275.6(ANKRD11):c.4149C>T (p.Gly1383=) rs146025366 0.00285
NM_020779.4(WDR35):c.2262C>T (p.Asp754=) rs147206032 0.00285
NM_182760.4(SUMF1):c.1077G>A (p.Ser359=) rs140751492 0.00285
NM_203486.3(DLL3):c.160C>A (p.Leu54Ile) rs200673897 0.00285
NM_001271938.2(MEGF8):c.5488+12T>C rs188285054 0.00284
NM_001453.3(FOXC1):c.1333A>C (p.Ser445Arg) rs75089353 0.00284
NM_003482.4(KMT2D):c.7705G>A (p.Gly2569Ser) rs201507971 0.00284
NM_005572.3(LMNA):c.-223C>T rs188625872 0.00284
NM_005633.4(SOS1):c.3081+26G>A rs186106971 0.00284
NM_005921.2(MAP3K1):c.2886C>G (p.Pro962=) rs201198197 0.00284
NM_015335.5(MED13L):c.1095G>A (p.Ser365=) rs144327790 0.00284
NM_000093.5(COL5A1):c.2058G>A (p.Pro686=) rs143443499 0.00283
NM_000501.4(ELN):c.1566T>A (p.Gly522=) rs61734584 0.00283
NM_001291415.2(KDM6A):c.1683+3G>A rs61751429 0.00283
NM_003482.4(KMT2D):c.4020+13C>G rs184377216 0.00283
NM_004370.6(COL12A1):c.5874A>G (p.Pro1958=) rs186035636 0.00283
NM_005045.4(RELN):c.416C>G (p.Thr139Ser) rs79471015 0.00283
NM_007373.4(SHOC2):c.*164T>A rs191293913 0.00283
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=) rs61751546 0.00283
NC_000006.12:g.121449729C>T rs78394273 0.00282
NM_000135.4(FANCA):c.3591G>A (p.Leu1197=) rs55773634 0.00282
NM_001042545.2(LTBP4):c.2451G>A (p.Glu817=) rs191216887 0.00282
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val) rs144908351 0.00282
NM_001148.6(ANK2):c.10395G>A (p.Glu3465=) rs147423696 0.00282
NM_001429.4(EP300):c.2064A>G (p.Leu688=) rs61756763 0.00282
NM_005996.4(TBX3):c.1236G>T (p.Ser412=) rs62640916 0.00282
NM_020964.3(EPG5):c.2257+10C>T rs202068698 0.00282
NM_030662.4(MAP2K2):c.846C>T (p.Pro282=) rs11539506 0.00282
NM_176787.5(PIGN):c.1617T>C (p.Tyr539=) rs147306123 0.00282
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=) rs1800219 0.00281
NM_000264.5(PTCH1):c.109G>C (p.Gly37Arg) rs199976372 0.00281
NM_000478.6(ALPL):c.*480A>C rs138564953 0.00281
NM_005188.4(CBL):c.2345C>T (p.Pro782Leu) rs2229073 0.00281
NM_014795.4(ZEB2):c.2141C>T (p.Pro714Leu) rs112581563 0.00281
NM_022039.4(FBXW4):c.1011T>C (p.Asp337=) rs61742882 0.00281
NM_000052.7(ATP7A):c.3589A>G (p.Asn1197Asp) rs148765730 0.00280
NM_000077.5(CDKN2A):c.150+216A>G rs147602781 0.00280
NM_000368.5(TSC1):c.*2708G>C rs150433809 0.00280
NM_001203.3(BMPR1B):c.418G>A (p.Val140Ile) rs138801821 0.00280
NM_004525.3(LRP2):c.92C>T (p.Ala31Val) rs144829356 0.00280
NM_005633.4(SOS1):c.2122G>A (p.Ala708Thr) rs140811086 0.00280
NM_014321.4(ORC6):c.-47G>A rs144065502 0.00280
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser) rs147551003 0.00280
NM_133433.4(NIPBL):c.3897T>C (p.Leu1299=) rs80358354 0.00280
NM_000288.4(PEX7):c.526+14T>C rs73777756 0.00279
NM_000719.7(CACNA1C):c.2449C>T (p.Pro817Ser) rs112532048 0.00279
NM_000891.3(KCNJ2):c.*2262C>T rs575383136 0.00279
NM_001134831.2(AHI1):c.178A>G (p.Thr60Ala) rs115502075 0.00279
NM_001365999.1(SZT2):c.9292T>C (p.Leu3098=) rs12089231 0.00279
NM_001367624.2(ZNF469):c.7611G>C (p.Glu2537Asp) rs199519673 0.00279
NM_001367624.2(ZNF469):c.7935G>A (p.Glu2645=) rs189596398 0.00279
NM_002076.4(GNS):c.1113C>T (p.Asn371=) rs116798538 0.00279
NM_002272.4(KRT4):c.*81T>A rs572216995 0.00279
NM_004304.5(ALK):c.3837-9_3837-7dup rs373764155 0.00279
NM_005751.5(AKAP9):c.6134A>G (p.Asn2045Ser) rs139963188 0.00279
NM_012082.4(ZFPM2):c.629G>C (p.Ser210Thr) rs182216711 0.00279
NM_020458.4(TTC7A):c.1095G>T (p.Val365=) rs113844968 0.00279
NM_020533.3(MCOLN1):c.16G>T (p.Gly6Cys) rs61736595 0.00279
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00278
NM_001005498.4(RHBDF2):c.1396C>T (p.Arg466Trp) rs143503813 0.00278
NM_001365276.2(TNXB):c.6544+8T>A rs150379644 0.00278
NM_001844.5(COL2A1):c.2574C>T (p.Gly858=) rs141423593 0.00278
NM_001999.4(FBN2):c.*1532G>A rs191801589 0.00278
NM_002181.4(IHH):c.315+8C>T rs186249490 0.00278
NM_004370.6(COL12A1):c.4186C>A (p.Arg1396=) rs115511838 0.00278
NM_004370.6(COL12A1):c.6068-14T>A rs189714891 0.00278
NM_005359.6(SMAD4):c.*2796G>T rs4939651 0.00278
NM_012293.3(PXDN):c.1392C>T (p.Ile464=) rs61749582 0.00278
NM_013352.4(DSE):c.209G>A (p.Arg70His) rs147683614 0.00278
NM_153704.6(TMEM67):c.2161C>T (p.Pro721Ser) rs116445698 0.00278
NM_001005498.4(RHBDF2):c.2265C>T (p.Ala755=) rs115094923 0.00277
NM_001367624.2(ZNF469):c.9161A>C (p.Glu3054Ala) rs139565761 0.00277
NM_001719.3(BMP7):c.962A>G (p.Asn321Ser) rs61733438 0.00277
NM_003640.5(ELP1):c.286A>G (p.Ser96Gly) rs35942802 0.00277
NM_005359.6(SMAD4):c.*5419T>C rs146551171 0.00277
NM_012330.4(KAT6B):c.4835G>A (p.Arg1612His) rs72803461 0.00277
NM_014795.4(ZEB2):c.489C>T (p.Ile163=) rs138859323 0.00277
NM_032634.4(PIGO):c.461C>A (p.Ala154Asp) rs142562923 0.00277
NM_052989.3(IFT122):c.3432C>T (p.Ile1144=) rs149884307 0.00277
NM_000168.6(GLI3):c.*603A>G rs182121145 0.00276
NM_000203.5(IDUA):c.299+7G>A rs200911718 0.00276
NM_000257.4(MYH7):c.2162+4G>A rs145738465 0.00276
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg) rs78488552 0.00276
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu) rs34120922 0.00276
NM_003172.4(SURF1):c.54+10G>A rs587598397 0.00276
NM_004260.4(RECQL4):c.3609C>T (p.Leu1203=) rs201384843 0.00276
NM_005633.4(SOS1):c.*2160C>T rs116651056 0.00276
NM_014704.4(CEP104):c.1966C>T (p.Arg656Cys) rs148465057 0.00276
NM_019892.6(INPP5E):c.1159+8C>T rs73566945 0.00276
NM_000075.4(CDK4):c.*210G>A rs2069511 0.00275
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_001104631.2(PDE4D):c.*1323A>T rs149834563 0.00275
NM_001308093.3(GATA4):c.825C>T (p.Cys275=) rs55980825 0.00275
NM_001371623.1(TCOF1):c.1488+16G>A rs115532058 0.00275
NM_001378615.1(CC2D2A):c.2475C>T (p.Ile825=) rs113835820 0.00275
NM_004525.3(LRP2):c.4924A>G (p.Ile1642Val) rs144737909 0.00275
NM_015443.4(KANSL1):c.1289+18A>G rs150225895 0.00275
NM_018127.7(ELAC2):c.560-2A>G rs149733287 0.00275
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys) rs146458902 0.00274
NM_001011658.4(TRAPPC2):c.*394T>C rs780042144 0.00274
NM_001083962.2(TCF4):c.1905G>A (p.Ala635=) rs151150677 0.00274
NM_004260.4(RECQL4):c.3392G>A (p.Arg1131Lys) rs201369291 0.00274
NM_006147.4(IRF6):c.*2122T>C rs567043500 0.00274
NM_000077.5(CDKN2A):c.174A>C (p.Arg58=) rs201208890 0.00273
NM_000414.4(HSD17B4):c.1059G>A (p.Ala353=) rs57972893 0.00273
NM_020223.4(FAM20C):c.1740C>T (p.Ala580=) rs563226142 0.00273
NM_020751.3(COG6):c.1693-7_1693-6del rs1491507046 0.00273
NM_023110.3(FGFR1):c.*994T>C rs17176081 0.00273
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys) rs58241708 0.00272
NM_001077446.4(TSEN34):c.*865A>G rs187570218 0.00272
NM_001329943.3(KIAA0586):c.4629G>A (p.Ser1543=) rs61745066 0.00272
NM_001371623.1(TCOF1):c.3594G>A (p.Ala1198=) rs148626720 0.00272
NM_016938.5(EFEMP2):c.368-11G>A rs181514768 0.00272
NM_017946.4(FKBP14):c.349+16T>G rs112323392 0.00272
NM_019892.6(INPP5E):c.1299G>A (p.Ala433=) rs56931633 0.00272
NM_020458.4(TTC7A):c.2460C>T (p.Gly820=) rs58422168 0.00272
NM_152564.5(VPS13B):c.4746-15T>C rs117058417 0.00272
NM_000141.5(FGFR2):c.170C>T (p.Ser57Leu) rs56226109 0.00271
NM_000203.5(IDUA):c.965T>A (p.Val322Glu) rs76722191 0.00271
NM_000208.4(INSR):c.*3541C>T rs116953519 0.00271
NM_003334.4(UBA1):c.346-3C>A rs149947901 0.00271
NM_005184.4(CALM3):c.201G>A (p.Pro67=) rs34089805 0.00271
NM_005592.4(MUSK):c.1062G>A (p.Thr354=) rs139945437 0.00271
NM_005921.2(MAP3K1):c.2179+16T>G rs201491763 0.00271
NM_005996.4(TBX3):c.*1224T>C rs141045947 0.00271
NM_025136.4(OPA3):c.*5944G>A rs190885103 0.00271
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_000466.3(PEX1):c.2271G>C (p.Leu757Phe) rs142838522 0.00270
NM_000501.4(ELN):c.1858+20G>A rs200965648 0.00270
NM_001128225.3(SLC39A13):c.1037C>T (p.Pro346Leu) rs35978122 0.00270
NM_001271938.2(MEGF8):c.6481+11T>G rs138919410 0.00270
NM_001626.6(AKT2):c.93C>T (p.Ser31=) rs35588791 0.00270
NM_003036.4(SKI):c.1527C>T (p.Ser509=) rs111935632 0.00270
NM_017866.6(TMEM70):c.-53G>A rs150775418 0.00270
NM_018026.4(PACS1):c.2376C>T (p.Ala792=) rs145601427 0.00270
NM_024426.6(WT1):c.181C>A (p.Arg61=) rs2234581 0.00270
NM_147127.5(EVC2):c.3659+8T>C rs200119306 0.00270
NM_153427.3(PITX2):c.-211G>A rs111733107 0.00270
NM_000368.5(TSC1):c.2646C>T (p.Ala882=) rs118203720 0.00269
NM_001101.5(ACTB):c.985-6C>T rs182943508 0.00269
NM_001148.6(ANK2):c.1401A>G (p.Ala467=) rs142159132 0.00269
NM_001374353.1(GLI2):c.148+14C>T rs190309269 0.00269
NM_005359.6(SMAD4):c.455-6A>G rs181178864 0.00269
NM_012330.4(KAT6B):c.375C>T (p.Ser125=) rs41314998 0.00269
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=) rs139180845 0.00269
NM_000138.5(FBN1):c.7497A>G (p.Leu2499=) rs148516442 0.00268
NM_000314.8(PTEN):c.*1954A>T rs35914322 0.00268
NM_001001433.3(STX16):c.141C>T (p.Asp47=) rs73598392 0.00268
NM_004208.4(AIFM1):c.1416T>C (p.Ala472=) rs141324245 0.00268
NM_005359.6(SMAD4):c.354G>A (p.Ala118=) rs145988618 0.00268
NM_016035.5(COQ4):c.424G>A (p.Ala142Thr) rs34043652 0.00268
NM_020937.4(FANCM):c.2749A>G (p.Ile917Val) rs148871932 0.00268
NM_000168.6(GLI3):c.2373G>A (p.Pro791=) rs61754622 0.00267
NM_000219.6(KCNE1):c.-100T>C rs41314819 0.00267
NM_000314.8(PTEN):c.-165C>G rs575260016 0.00267
NM_000335.5(SCN5A):c.486C>T (p.Tyr162=) rs45489099 0.00267
NM_001148.6(ANK2):c.4152T>C (p.Asp1384=) rs116128106 0.00267
NM_001371623.1(TCOF1):c.109-13T>C rs147327313 0.00267
NM_001626.6(AKT2):c.573+9C>T rs3730258 0.00267
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_001109878.2(TBX22):c.804G>A (p.Thr268=) rs150811689 0.00266
NM_001271938.2(MEGF8):c.5320G>C (p.Glu1774Gln) rs149787596 0.00266
NM_001358530.2(MOCS1):c.124-69G>A rs45487695 0.00266
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00266
NM_000393.5(COL5A2):c.2032-7G>A rs141571092 0.00265
NM_000414.4(HSD17B4):c.2060C>T (p.Thr687Ile) rs28943592 0.00265
NM_000751.3(CHRND):c.414C>T (p.Phe138=) rs150208750 0.00265
NM_001083962.2(TCF4):c.*549G>A rs148367822 0.00265
NM_001122681.2(SH3BP2):c.*3758T>G rs567254636 0.00265
NM_001148.6(ANK2):c.3543C>T (p.Ala1181=) rs76685232 0.00265
NM_001267550.2(TTN):c.970C>T (p.Pro324Ser) rs72647845 0.00265
NM_001371623.1(TCOF1):c.827G>A (p.Gly276Glu) rs182776703 0.00265
NM_004260.4(RECQL4):c.2463+7del rs760575376 0.00265
NM_020975.6(RET):c.*1599G>A rs145954635 0.00265
NM_000088.4(COL1A1):c.*1088G>A rs191326459 0.00264
NM_000325.6(PITX2):c.562G>A (p.Ala188Thr) rs77144743 0.00264
NM_001369268.1(ACAN):c.1398C>T (p.Thr466=) rs185960535 0.00264
NM_001371623.1(TCOF1):c.3047-20C>T rs150694681 0.00264
NM_001614.5(ACTG1):c.471C>T (p.Asp157=) rs11549222 0.00264
NM_007129.5(ZIC2):c.1554G>A (p.Gly518=) rs199669243 0.00264
NM_014141.6(CNTNAP2):c.3105C>T (p.Asn1035=) rs112483670 0.00264
NM_017837.4(PIGV):c.*167G>A rs142176099 0.00264
NM_018451.5(CPAP):c.68A>G (p.Asn23Ser) rs116981543 0.00264
NM_021830.5(TWNK):c.*301C>T rs41291468 0.00264
NM_001130144.3(LTBP3):c.2107+13C>T rs201699516 0.00263
NM_003119.4(SPG7):c.987+19G>A rs62071462 0.00263
NM_004544.4(NDUFA10):c.*1382C>T rs111337344 0.00263
NM_005751.5(AKAP9):c.1053A>G (p.Lys351=) rs368967178 0.00263
NM_006306.4(SMC1A):c.*1542T>C rs781783328 0.00263
NM_020779.4(WDR35):c.318T>C (p.Ile106=) rs115963122 0.00263
NM_000193.4(SHH):c.570G>A (p.Ser190=) rs9333633 0.00262
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161 0.00262
NM_001126049.2(KLLN):c.-898G>A rs538728843 0.00262
NM_001369268.1(ACAN):c.7524C>T (p.Ser2508=) rs190361551 0.00262
NM_001378964.1(CDON):c.1818G>T (p.Leu606=) rs147925363 0.00262
NM_004260.4(RECQL4):c.1620+16C>T rs35569304 0.00262
NM_004370.6(COL12A1):c.2965G>A (p.Gly989Arg) rs139332405 0.00262
NM_005751.5(AKAP9):c.4519G>C (p.Asp1507His) rs34086871 0.00262
NM_005996.4(TBX3):c.*1312T>C rs77412687 0.00262
NM_006329.4(FBLN5):c.*647C>T rs10197 0.00262
NM_198525.3(KIF7):c.2192-13C>T rs201251064 0.00262
NM_000514.4(GDNF):c.*1004T>C rs79370077 0.00261
NM_001106.4(ACVR2B):c.*5700A>C rs141178727 0.00261
NM_001122681.2(SH3BP2):c.1429C>T (p.Arg477Trp) rs148761331 0.00261
NM_001379286.1(ZNF423):c.3393C>T (p.Pro1131=) rs61755180 0.00261
NM_001999.4(FBN2):c.4206C>T (p.Asn1402=) rs34201226 0.00261
NM_004168.4(SDHA):c.146A>G (p.Asp49Gly) rs80207011 0.00261
NM_004260.4(RECQL4):c.3435G>C (p.Gln1145His) rs61755066 0.00261
NM_004370.6(COL12A1):c.8582G>A (p.Ser2861Asn) rs148065232 0.00261
NM_004456.5(EZH2):c.484+13C>T rs140616632 0.00261
NM_004560.4(ROR2):c.7C>T (p.Arg3Trp) rs539329891 0.00261
NM_006147.4(IRF6):c.*965G>A rs144692145 0.00261
NM_020297.4(ABCC9):c.2093-7T>C rs185235724 0.00261
NM_030578.4(B9D2):c.195C>T (p.Phe65=) rs34088631 0.00261
NM_152564.5(VPS13B):c.9330+9A>G rs184381851 0.00261
NM_198525.3(KIF7):c.3111+9C>A rs147996726 0.00261
NM_001371623.1(TCOF1):c.295G>A (p.Ala99Thr) rs112332762 0.00260
NM_001374828.1(ARID1B):c.6171C>T (p.Ile2057=) rs142499766 0.00260
NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu) rs201190869 0.00260
NM_020975.6(RET):c.*1558A>C rs142572876 0.00260
NM_021625.5(TRPV4):c.712+10C>T rs115657305 0.00260
NM_021926.4(ALX4):c.*2673T>A rs146304390 0.00260
NM_152594.3(SPRED1):c.*2742G>T rs149336440 0.00260
NM_000090.4(COL3A1):c.3039+16T>G rs41264443 0.00259
NM_000302.4(PLOD1):c.1902+13G>A rs199765551 0.00259
NM_000431.4(MVK):c.238G>A (p.Val80Ile) rs76914224 0.00259
NM_001453.3(FOXC1):c.1453T>C (p.Leu485=) rs76166083 0.00259
NM_002693.3(POLG):c.948G>A (p.Lys316=) rs61756401 0.00259
NM_004168.4(SDHA):c.1413C>T (p.Ile471=) rs34779890 0.00259
NM_014140.4(SMARCAL1):c.603G>C (p.Gly201=) rs35048226 0.00259
NM_001113378.2(FANCI):c.3255+6dup rs878854178 0.00258
NM_001367624.2(ZNF469):c.869C>T (p.Ala290Val) rs117501524 0.00258
NM_001386795.1(DTNA):c.999C>T (p.Ile333=) rs61737438 0.00258
NM_001429.4(EP300):c.5814G>A (p.Thr1938=) rs112948044 0.00258
NM_001429.4(EP300):c.865A>G (p.Met289Val) rs2230111 0.00258
NM_003923.3(FOXH1):c.-27C>A rs377382539 0.00258
NM_004958.4(MTOR):c.6624T>C (p.Leu2208=) rs56051835 0.00258
NM_006306.4(SMC1A):c.1254+11G>C rs144354524 0.00258
NM_022166.4(XYLT1):c.1848G>C (p.Leu616=) rs150301505 0.00258
NM_145068.4(TRPV3):c.*84G>A rs146188912 0.00258
NM_000135.4(FANCA):c.2021C>T (p.Ser674Leu) rs17232973 0.00257
NM_000233.4(LHCGR):c.458+3A>G rs76210637 0.00257
NM_001005498.4(RHBDF2):c.1809+7C>T rs200007588 0.00257
NM_001113378.2(FANCI):c.2011A>G (p.Ile671Val) rs139814895 0.00257
NM_001374353.1(GLI2):c.*42C>T rs185228238 0.00257
NM_001374828.1(ARID1B):c.318G>A (p.Ala106=) rs533182720 0.00257
NM_001378964.1(CDON):c.*3141A>G rs191432564 0.00257
NM_152594.3(SPRED1):c.*5398G>T rs115003524 0.00257
NM_000168.6(GLI3):c.1357-17C>G rs190600888 0.00256
NM_000238.4(KCNH2):c.3153-15C>T rs41313755 0.00256
NM_001122681.2(SH3BP2):c.*5972C>T rs75269237 0.00256
NM_001148.6(ANK2):c.3366C>T (p.Asn1122=) rs114896457 0.00256
NM_032620.4(GTPBP3):c.1175C>G (p.Pro392Arg) rs149578279 0.00256
NM_001174147.2(LMX1B):c.*884G>A rs146268507 0.00255
NM_017780.4(CHD7):c.7209G>A (p.Arg2403=) rs61746518 0.00255
NM_021922.3(FANCE):c.248+7C>A rs186563531 0.00255
NM_145068.4(TRPV3):c.119+10G>A rs182566183 0.00255
NM_000138.5(FBN1):c.*2524A>G rs75372203 0.00254
NM_001291415.2(KDM6A):c.2859-5T>C rs747739852 0.00254
NM_001374353.1(GLI2):c.1751A>G (p.Asn584Ser) rs61732851 0.00254
NM_001374353.1(GLI2):c.803C>T (p.Ala268Val) rs146992756 0.00254
NM_007129.5(ZIC2):c.546G>T (p.Gly182=) rs200407312 0.00254
NM_020937.4(FANCM):c.4260C>T (p.Asp1420=) rs113819179 0.00254
NM_022336.4(EDAR):c.43G>A (p.Val15Ile) rs151195196 0.00254
NM_145861.4(EDARADD):c.393G>A (p.Pro131=) rs139996586 0.00254
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=) rs41310953 0.00253
NM_001106.4(ACVR2B):c.*4218A>G rs146770581 0.00253
NM_003334.4(UBA1):c.2351G>A (p.Arg784Gln) rs148382699 0.00253
NM_005751.5(AKAP9):c.7638A>G (p.Ile2546Met) rs144662445 0.00253
NM_014141.6(CNTNAP2):c.1220A>G (p.Asn407Ser) rs143877693 0.00253
NM_018136.5(ASPM):c.9996T>C (p.Thr3332=) rs139927527 0.00253
NM_032861.4(SERAC1):c.917G>A (p.Arg306Gln) rs114943513 0.00253
NM_000263.4(NAGLU):c.1563G>A (p.Pro521=) rs61737297 0.00252
NM_000264.5(PTCH1):c.*1708C>T rs146131736 0.00252
NM_000284.4(PDHA1):c.*1208A>C rs369499936 0.00252
NM_002470.4(MYH3):c.3594G>A (p.Ala1198=) rs139978727 0.00252
NM_004380.3(CREBBP):c.5052C>T (p.Ser1684=) rs2072381 0.00252
NM_020779.4(WDR35):c.2964+12C>T rs113663112 0.00252
NM_022114.4(PRDM16):c.100G>A (p.Ala34Thr) rs187194973 0.00252
NM_030973.4(MED25):c.2088G>A (p.Leu696=) rs371157406 0.00252
NM_032520.5(GNPTG):c.450T>G (p.His150Gln) rs147109185 0.00252
NM_145068.4(TRPV3):c.*63C>G rs545886104 0.00252
NM_001082486.2(ACD):c.819C>T (p.Pro273=) rs138740815 0.00251
NM_001104631.2(PDE4D):c.*3214T>A rs188938118 0.00251
NM_001113378.2(FANCI):c.2604A>C (p.Glu868Asp) rs118031800 0.00251
NM_001999.4(FBN2):c.8247A>G (p.Thr2749=) rs116413101 0.00251
NM_145054.5(CFAP52):c.804T>C (p.Ser268=) rs137995073 0.00251
NM_152564.5(VPS13B):c.10235C>T (p.Ala3412Val) rs112045467 0.00251
NM_153427.2(PITX2):c.-362C>G rs181197472 0.00251
NM_000141.5(FGFR2):c.17G>C (p.Arg6Pro) rs3750819 0.00250
NM_000168.6(GLI3):c.1028+15G>A rs116842918 0.00250
NM_000181.4(GUSB):c.1752G>A (p.Glu584=) rs141430018 0.00250
NM_001001433.3(STX16):c.-355C>T rs141733765 0.00250
NM_001394062.1(MACF1):c.1799G>A (p.Arg600Gln) rs139794027 0.00250
NM_002470.4(MYH3):c.5109G>A (p.Ala1703=) rs114770362 0.00250
NM_005751.5(AKAP9):c.6556T>C (p.Ser2186Pro) rs76177450 0.00250
NM_006371.5(CRTAP):c.622-16T>C rs147610884 0.00250
NM_021252.5(RAB18):c.*2529G>A rs145293804 0.00250
NM_022167.4(XYLT2):c.1938G>A (p.Leu646=) rs3803883 0.00250
NM_000088.4(COL1A1):c.1984-5C>A rs66592376 0.00249
NM_000126.4(ETFA):c.186+16G>T rs146932936 0.00249
NM_001083962.2(TCF4):c.*1576T>C rs190738599 0.00249
NM_001374828.1(ARID1B):c.1791+19G>C rs374013482 0.00249
NM_004393.6(DAG1):c.1233G>A (p.Val411=) rs145765079 0.00249
NM_005629.4(SLC6A8):c.1494C>T (p.Tyr498=) rs143916832 0.00249
NM_021926.4(ALX4):c.*963G>A rs140400459 0.00249
NM_023110.3(FGFR1):c.*906A>T rs139347382 0.00249
NM_133259.4(LRPPRC):c.2325A>G (p.Lys775=) rs139634347 0.00249
NM_000077.5(CDKN2A):c.430C>T (p.Arg144Cys) rs116150891 0.00248
NM_000192.3(TBX5):c.-664G>A rs186960328 0.00248
NM_000891.3(KCNJ2):c.*3163T>A rs149224363 0.00248
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=) rs138675752 0.00248
NM_001122681.2(SH3BP2):c.-4-1780A>C rs568447008 0.00248
NM_001122681.2(SH3BP2):c.-4-1781G>T rs548710607 0.00248
NM_001360.3(DHCR7):c.399C>T (p.Ala133=) rs147424205 0.00248
NM_001852.4(COL9A2):c.*263C>T rs187788913 0.00248
NM_005629.4(SLC6A8):c.813C>T (p.Val271=) rs138064933 0.00248
NM_025132.4(WDR19):c.3183+9G>A rs138318063 0.00248
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112 0.00247
NM_001083962.2(TCF4):c.*2553C>T rs117874302 0.00247
NM_003334.4(UBA1):c.2595A>G (p.Ala865=) rs139492208 0.00247
NM_004004.6(GJB2):c.457G>A (p.Val153Ile) rs111033186 0.00247
NM_014141.6(CNTNAP2):c.551-15_551-14insG rs201428458 0.00247
NM_020964.3(EPG5):c.740C>T (p.Pro247Leu) rs140494095 0.00247
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=) rs116302615 0.00246
NM_001852.4(COL9A2):c.*111C>T rs114634369 0.00246
NM_004260.4(RECQL4):c.1390+3G>A rs148912524 0.00246
NM_004525.3(LRP2):c.2079C>T (p.Phe693=) rs145709922 0.00246
NM_025132.4(WDR19):c.2142+12G>A rs149621476 0.00246
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141 0.00245
NM_000088.4(COL1A1):c.4257C>T (p.Thr1419=) rs144134990 0.00245
NM_000192.3(TBX5):c.-377C>T rs372524573 0.00245
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=) rs148430780 0.00245
NM_000553.6(WRN):c.970A>G (p.Thr324Ala) rs1800390 0.00245
NM_000719.7(CACNA1C):c.2531-187C>T rs186600638 0.00245
NM_001127671.2(LIFR):c.2447A>G (p.Asp816Gly) rs74856317 0.00245
NM_002470.4(MYH3):c.3409C>T (p.Arg1137Cys) rs12941197 0.00245
NM_004168.4(SDHA):c.1523C>T (p.Thr508Ile) rs151266052 0.00245
NM_005159.5(ACTC1):c.454+9G>A rs148695567 0.00245
NM_005908.4(MANBA):c.2136G>A (p.Ser712=) rs149687835 0.00245
NM_015272.5(RPGRIP1L):c.532A>G (p.Ile178Val) rs140067659 0.00245
NM_020320.5(RARS2):c.-8A>C rs28381459 0.00245
NM_020436.5(SALL4):c.2290T>C (p.Ser764Pro) rs150549656 0.00245
NM_152419.3(HGSNAT):c.234+14C>G rs146429523 0.00245
NM_000090.4(COL3A1):c.1927T>C (p.Leu643=) rs41263757 0.00244
NM_001367624.2(ZNF469):c.8694C>T (p.Gly2898=) rs114884145 0.00244
NM_014391.3(ANKRD1):c.827C>T (p.Ala276Val) rs35550482 0.00244
NM_015272.5(RPGRIP1L):c.2807T>G (p.Ile936Ser) rs146197239 0.00244
NM_145054.5(CFAP52):c.1369C>T (p.Leu457=) rs140517505 0.00244
NM_000719.7(CACNA1C):c.4727-124A>C rs7954316 0.00243
NM_001365276.2(TNXB):c.7704T>C (p.Val2568=) rs370919547 0.00243
NM_001378964.1(CDON):c.*696T>C rs566390376 0.00243
NM_003072.5(SMARCA4):c.2275-3C>A rs117611401 0.00243
NM_003482.4(KMT2D):c.13102A>G (p.Thr4368Ala) rs189357192 0.00243
NM_004370.6(COL12A1):c.4691-12G>A rs146472530 0.00243
NM_014762.4(DHCR24):c.-51G>T rs17552526 0.00243
NM_019892.6(INPP5E):c.572C>G (p.Pro191Arg) rs61734181 0.00243
NM_020937.4(FANCM):c.1040C>T (p.Pro347Leu) rs151071546 0.00243
NM_152564.5(VPS13B):c.2643A>T (p.Lys881Asn) rs148777544 0.00243
NM_173660.5(DOK7):c.1295G>A (p.Arg432Lys) rs145419117 0.00243
NM_000089.4(COL1A2):c.595-20C>T rs192022673 0.00242
NM_000089.4(COL1A2):c.96+10C>T rs185341110 0.00242
NM_001122681.2(SH3BP2):c.*4047C>T rs115450246 0.00242
NM_001378964.1(CDON):c.*12C>T rs200595011 0.00242
NM_001382391.1(CSPP1):c.3109+18C>T rs139599638 0.00242
NM_001852.4(COL9A2):c.1982C>T (p.Pro661Leu) rs150687987 0.00242
NM_002381.5(MATN3):c.1169-10G>A rs149849256 0.00242
NM_003073.5(SMARCB1):c.-115C>T rs551328283 0.00242
NM_005027.4(PIK3R2):c.160G>A (p.Val54Met) rs201370957 0.00242
NM_006031.6(PCNT):c.9274-3C>T rs200348425 0.00242
NM_014244.5(ADAMTS2):c.2958+20C>T rs200469634 0.00242
NM_152383.5(DIS3L2):c.2370C>T (p.Gly790=) rs199541622 0.00242
NM_152564.5(VPS13B):c.11392+8G>A rs147921058 0.00242
NM_000108.5(DLD):c.507C>T (p.Gly169=) rs144351432 0.00241
NM_000719.7(CACNA1C):c.4623+13G>A rs111734850 0.00241
NM_003072.5(SMARCA4):c.2757C>T (p.Pro919=) rs113955216 0.00241
NM_003334.4(UBA1):c.1233+13G>A rs141049438 0.00241
NM_003923.3(FOXH1):c.47C>T (p.Ser16Leu) rs180724802 0.00241
NM_004560.4(ROR2):c.372C>T (p.Asp124=) rs145568368 0.00241
NM_005751.5(AKAP9):c.1372G>C (p.Ala458Pro) rs143894795 0.00241
NM_012082.4(ZFPM2):c.2501A>G (p.Lys834Arg) rs113289249 0.00241
NM_014140.4(SMARCAL1):c.1212G>A (p.Ala404=) rs2066525 0.00241
NM_025114.4(CEP290):c.2980G>A (p.Glu994Lys) rs182369459 0.00241
NM_030777.4(SLC2A10):c.1548G>T (p.Arg516=) rs116344406 0.00241
NM_000057.4(BLM):c.2075-14T>C rs28385026 0.00240
NM_000381.4(MID1):c.2000C>T (p.Pro667Leu) rs147106995 0.00240
NM_000553.6(WRN):c.1981+11A>G rs189999761 0.00240
NM_000557.5(GDF5):c.652A>C (p.Arg218=) rs116467702 0.00240
NM_001271938.2(MEGF8):c.5721-10T>C rs188531875 0.00240
NM_001358530.2(MOCS1):c.1668C>T (p.His556=) rs149233109 0.00240
NM_003244.4(TGIF1):c.60C>T (p.Ser20=) rs145725785 0.00240
NM_005027.4(PIK3R2):c.1643C>T (p.Ala548Val) rs10413655 0.00240
NM_006329.4(FBLN5):c.-411A>G rs143296045 0.00240
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_022168.4(IFIH1):c.2946C>T (p.Leu982=) rs74162089 0.00240
NM_024757.5(EHMT1):c.581C>T (p.Pro194Leu) rs35570782 0.00240
NC_000007.14:g.156769346A>C rs78118131 0.00239
NM_000093.5(COL5A1):c.110-19T>C rs148294644 0.00239
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu) rs41265127 0.00239
NM_005585.5(SMAD6):c.817+9G>C rs200726236 0.00239
NM_017780.4(CHD7):c.3697G>A (p.Gly1233Ser) rs190548814 0.00239
NM_000308.4(CTSA):c.105C>T (p.Ile35=) rs150140984 0.00238
NM_000557.5(GDF5):c.*520T>C rs188252641 0.00238
NM_001042492.3(NF1):c.4269A>G (p.Glu1423=) rs17886566 0.00238
NM_001148.6(ANK2):c.9286A>G (p.Ser3096Gly) rs144158934 0.00238
NM_001365902.3(NFIX):c.1140G>A (p.Ser380=) rs201174259 0.00238
NM_003482.4(KMT2D):c.6573G>A (p.Thr2191=) rs202085637 0.00238
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=) rs61751536 0.00238
NM_019892.6(INPP5E):c.813-5C>G rs186462782 0.00238
NM_020964.3(EPG5):c.4629G>A (p.Leu1543=) rs182255496 0.00238
NM_020975.6(RET):c.1336G>C (p.Gly446Arg) rs115423919 0.00238
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser) rs143777403 0.00238
NM_000263.4(NAGLU):c.1515C>T (p.Ser505=) rs112751577 0.00237
NM_000316.3(PTH1R):c.128G>A (p.Arg43His) rs141466964 0.00237
NM_000428.3(LTBP2):c.208A>G (p.Ser70Gly) rs201787294 0.00237
NM_000528.4(MAN2B1):c.743C>T (p.Pro248Leu) rs117843968 0.00237
NM_001110219.3(GJB6):c.476A>G (p.Asn159Ser) rs35277762 0.00237
NM_003052.5(SLC34A1):c.*179G>A rs141664220 0.00237
NM_006147.4(IRF6):c.759T>C (p.Tyr253=) rs41303263 0.00237
NM_014140.4(SMARCAL1):c.1995C>T (p.Ala665=) rs151241914 0.00237
NM_022552.5(DNMT3A):c.801C>T (p.Ser267=) rs116609083 0.00237
NM_173660.5(DOK7):c.904G>C (p.Ala302Pro) rs79063654 0.00237
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202 0.00236
NM_000264.5(PTCH1):c.3804+32T>C rs199982439 0.00236
NM_000280.4(PAX6):c.*2697T>A rs138881442 0.00236
NM_000557.5(GDF5):c.462C>A (p.Pro154=) rs150686636 0.00236
NM_001282531.3(ADNP):c.2743G>A (p.Val915Ile) rs150900514 0.00236
NM_002470.4(MYH3):c.1566C>A (p.Ile522=) rs146873206 0.00236
NM_003640.5(ELP1):c.923T>C (p.Leu308Pro) rs78135392 0.00236
NM_004821.3(HAND1):c.162G>A (p.Pro54=) rs138460675 0.00236
NM_014141.6(CNTNAP2):c.681C>T (p.His227=) rs142984073 0.00236
NM_024809.5(TCTN2):c.720C>G (p.Pro240=) rs149430216 0.00236
NM_000089.4(COL1A2):c.2700C>T (p.Ala900=) rs141688356 0.00235
NM_000393.5(COL5A2):c.4389A>G (p.Glu1463=) rs146100075 0.00235
NM_000685.5(AGTR1):c.730G>T (p.Ala244Ser) rs12721225 0.00235
NM_001011658.4(TRAPPC2):c.*709C>G rs181594125 0.00235
NM_001015880.2(PAPSS2):c.477C>T (p.Asp159=) rs141604779 0.00235
NM_001083962.2(TCF4):c.*5019T>C rs140368699 0.00235
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys) rs45454496 0.00235
NM_003073.5(SMARCB1):c.628+13C>T rs184021903 0.00235
NM_004168.4(SDHA):c.313-19G>T rs185555941 0.00235
NM_005751.5(AKAP9):c.11098-13T>G rs76709221 0.00235
NM_007215.4(POLG2):c.1158T>G (p.Asp386Glu) rs61751983 0.00235
NM_017565.4(FAM20A):c.444C>T (p.Ser148=) rs139743735 0.00235
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=) rs186453356 0.00235
NM_017777.4(MKS1):c.1388G>A (p.Arg463Gln) rs201619500 0.00235
NM_018238.4(AGK):c.518+18G>A rs192082201 0.00235
NM_022458.4(LMBR1):c.*2081G>A rs113867033 0.00235
NM_000141.5(FGFR2):c.1539C>T (p.Thr513=) rs74160617 0.00234
NM_000193.4(SHH):c.885C>T (p.Ser295=) rs549625672 0.00234
NM_001999.4(FBN2):c.*1191C>T rs557229598 0.00234
NM_001999.4(FBN2):c.*273T>C rs142804569 0.00234
NM_004525.3(LRP2):c.5390A>G (p.Asn1797Ser) rs138070797 0.00234
NM_004656.4(BAP1):c.960C>T (p.Cys320=) rs143659795 0.00234
NM_000057.4(BLM):c.4077-10C>T rs145310008 0.00233
NM_000891.3(KCNJ2):c.*3208A>G rs188533495 0.00233
NM_002334.4(LRP4):c.1191T>C (p.Asn397=) rs73458078 0.00233
NM_003072.5(SMARCA4):c.981A>C (p.Pro327=) rs547268941 0.00233
NM_004380.3(CREBBP):c.2973C>T (p.Asp991=) rs142528559 0.00233
NM_005633.4(SOS1):c.570C>T (p.Asp190=) rs55980502 0.00233
NM_007059.4(KPTN):c.525+13G>A rs45478096 0.00233
NM_013275.6(ANKRD11):c.7296C>T (p.Ser2432=) rs146648782 0.00233
NM_020779.4(WDR35):c.1591C>G (p.Leu531Val) rs148242353 0.00233
NM_025215.6(PUS1):c.1214C>T (p.Thr405Met) rs149378338 0.00233
NM_000368.5(TSC1):c.*2354A>G rs114877981 0.00232
NM_000428.3(LTBP2):c.785C>T (p.Pro262Leu) rs143106228 0.00232
NM_000719.7(CACNA1C):c.2664-170T>A rs187261372 0.00232
NM_001308093.3(GATA4):c.462C>T (p.Phe154=) rs56348550 0.00232
NM_001367624.2(ZNF469):c.6800G>A (p.Arg2267Gln) rs181887079 0.00232
NM_001371623.1(TCOF1):c.122C>T (p.Ala41Val) rs56180593 0.00232
NM_004304.5(ALK):c.1943C>T (p.Thr648Ile) rs116202066 0.00232
NM_004560.4(ROR2):c.1686C>T (p.His562=) rs56048121 0.00232
NM_005045.4(RELN):c.4408G>A (p.Val1470Ile) rs143213152 0.00232
NM_024537.4(CARS2):c.930C>T (p.His310=) rs143532600 0.00232
NM_173660.5(DOK7):c.1469C>T (p.Ser490Leu) rs77513082 0.00232
NM_000126.4(ETFA):c.186+7A>G rs184587113 0.00231
NM_000475.5(NR0B1):c.588G>A (p.Leu196=) rs138855021 0.00231
NM_000891.3(KCNJ2):c.*2893C>T rs137870461 0.00231
NM_001378964.1(CDON):c.*167A>G rs141225852 0.00231
NM_001382391.1(CSPP1):c.3165T>C (p.Asp1055=) rs10112748 0.00231
NM_002474.3(MYH11):c.3859-122G>C rs12927605 0.00231
NM_003000.3(SDHB):c.170A>G (p.His57Arg) rs35962811 0.00231
NM_004278.4(PIGL):c.*182A>G rs140126036 0.00231
NM_005045.4(RELN):c.7438G>A (p.Gly2480Ser) rs150236371 0.00231
NM_020533.3(MCOLN1):c.1272C>T (p.Ser424=) rs147754092 0.00231
NM_153427.2(PITX2):c.-1024G>A rs181439547 0.00231
NM_153427.2(PITX2):c.-1111C>G rs187210297 0.00231
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_000199.5(SGSH):c.411G>A (p.Ala137=) rs142557761 0.00230
NM_000514.4(GDNF):c.448G>A (p.Asp150Asn) rs76466003 0.00230
NM_001122681.2(SH3BP2):c.*3155C>T rs138593399 0.00230
NM_001130144.3(LTBP3):c.2889C>T (p.Ser963=) rs75311576 0.00230
NM_001852.4(COL9A2):c.1981C>A (p.Pro661Thr) rs140041506 0.00230
NM_002465.4(MYBPC1):c.438+9C>G rs186857045 0.00230
NM_002834.5(PTPN11):c.*775G>A rs181946923 0.00230
NM_005257.6(GATA6):c.1374C>T (p.Asn458=) rs143026087 0.00230
NM_017866.6(TMEM70):c.211-6C>T rs113669789 0.00230
NM_018714.3(COG1):c.1893C>T (p.Cys631=) rs80232475 0.00230
NM_022166.4(XYLT1):c.1854G>T (p.Gly618=) rs77836443 0.00230
NM_133433.4(NIPBL):c.3502+17A>C rs144725401 0.00230
NM_152419.3(HGSNAT):c.63G>A (p.Ala21=) rs549139396 0.00230
NM_000088.4(COL1A1):c.-57G>A rs2734278 0.00229
NM_001367624.2(ZNF469):c.6036G>A (p.Thr2012=) rs149961653 0.00229
NM_004260.4(RECQL4):c.2463+6C>T rs35029361 0.00229
NM_006015.6(ARID1A):c.1188C>T (p.Gly396=) rs61749356 0.00229
NM_017780.4(CHD7):c.8790C>T (p.Ala2930=) rs61736186 0.00229
NM_025136.4(OPA3):c.*6554G>A rs184177890 0.00229
NM_130837.3(OPA1):c.1342A>C (p.Arg448=) rs149752576 0.00229
NM_130837.3(OPA1):c.43C>A (p.Gln15Lys) rs75414918 0.00229
NM_133433.4(NIPBL):c.4245A>C (p.Ser1415=) rs138440449 0.00229
NM_198525.3(KIF7):c.2335G>C (p.Glu779Gln) rs116823950 0.00229
NC_000007.14:g.156796278C>T rs114781898 0.00228
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_001113378.2(FANCI):c.1179T>C (p.Tyr393=) rs3743377 0.00228
NM_001243230.2(TCF4):c.66G>A (p.Glu22=) rs113395332 0.00228
NM_001365951.3(KIF1B):c.2330A>G (p.Asn777Ser) rs117525287 0.00228
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=) rs1801250 0.00228
NM_022168.4(IFIH1):c.1481G>T (p.Gly494Val) rs147000317 0.00228
NM_024408.4(NOTCH2):c.7223T>A (p.Leu2408His) rs35586704 0.00228
NM_198859.4(PRICKLE2):c.1527G>A (p.Glu509=) rs144455095 0.00228
NM_001015880.2(PAPSS2):c.1403C>T (p.Ala468Val) rs34097979 0.00227
NM_001018115.3(FANCD2):c.-6G>C rs3732974 0.00227
NM_001374353.1(GLI2):c.255-17G>T rs199499256 0.00227
NM_002470.4(MYH3):c.1411T>C (p.Tyr471His) rs115742228 0.00227
NM_003611.3(OFD1):c.2044A>C (p.Ile682Leu) rs148239437 0.00227
NM_004260.4(RECQL4):c.891C>T (p.Asp297=) rs34700133 0.00227
NM_005184.4(CALM3):c.306C>T (p.Ser102=) rs146819515 0.00227
NM_024312.5(GNPTAB):c.571+12T>C rs112056979 0.00227
NM_213720.3(CHCHD10):c.330G>A (p.Leu110=) rs138183274 0.00227
NM_000214.3(JAG1):c.886+19A>T rs200311847 0.00226
NM_001083962.2(TCF4):c.*2688A>G rs188623567 0.00226
NM_001379200.1(TBX1):c.519G>A (p.Pro173=) rs111754814 0.00226
NM_005045.4(RELN):c.8811G>A (p.Ala2937=) rs144728023 0.00226
NM_018238.4(AGK):c.17A>G (p.Lys6Arg) rs148294392 0.00226
NM_000168.6(GLI3):c.*835G>A rs73688609 0.00225
NM_001366722.1(GRIP1):c.*428C>T rs78619935 0.00225
NM_001429.4(EP300):c.6636G>A (p.Gln2212=) rs142673005 0.00225
NM_001999.4(FBN2):c.2428+6T>A rs77493726 0.00225
NM_004525.3(LRP2):c.769+9G>A rs148452352 0.00225
NM_018238.4(AGK):c.297+18A>G rs138364626 0.00225
NM_021625.5(TRPV4):c.1824+4C>T rs147259744 0.00225
NM_022166.4(XYLT1):c.363+18C>G rs367589791 0.00225
NM_153704.6(TMEM67):c.25G>A (p.Val9Met) rs199961375 0.00225
NM_004153.4(ORC1):c.2427G>A (p.Glu809=) rs77077945 0.00224
NM_004370.6(COL12A1):c.2275C>T (p.Pro759Ser) rs141517088 0.00224
NM_024809.5(TCTN2):c.-2G>A rs141768405 0.00224
NM_198253.3(TERT):c.969G>A (p.Pro323=) rs148549782 0.00224
NM_001024630.4(RUNX2):c.*3159C>T rs138689945 0.00223
NM_001367624.2(ZNF469):c.10327G>C (p.Gly3443Arg) rs532857190 0.00223
NM_002272.4(KRT4):c.623G>A (p.Arg208His) rs201795280 0.00223
NM_002386.4(MC1R):c.948C>T (p.Ser316=) rs151318945 0.00223
NM_004380.3(CREBBP):c.6003T>C (p.Asn2001=) rs200998860 0.00223
NM_005633.4(SOS1):c.3081+13A>G rs189695571 0.00223
NM_007055.4(POLR3A):c.621G>A (p.Val207=) rs149192341 0.00223
NM_012293.3(PXDN):c.1176G>T (p.Thr392=) rs140056124 0.00223
NM_014918.5(CHSY1):c.2088G>A (p.Thr696=) rs150245745 0.00223
NM_016938.5(EFEMP2):c.368-4G>A rs111550973 0.00223
NM_021830.5(TWNK):c.*419A>T rs187553791 0.00223
NM_000088.4(COL1A1):c.999C>T (p.Pro333=) rs62637627 0.00222
NM_000335.5(SCN5A):c.3575G>A (p.Arg1192Gln) rs41261344 0.00222
NM_001122681.2(SH3BP2):c.*2951C>G rs185045655 0.00222
NM_001148.6(ANK2):c.7132G>A (p.Glu2378Lys) rs141191319 0.00222
NM_001367624.2(ZNF469):c.2803G>A (p.Glu935Lys) rs117995699 0.00222
NM_001374353.1(GLI2):c.3298G>T (p.Val1100Leu) rs147580961 0.00222
NM_001953.5(TYMP):c.735G>A (p.Gln245=) rs139223629 0.00222
NM_004565.3(PEX14):c.170-13C>T rs182967518 0.00222
NM_005219.5(DIAPH1):c.1407T>C (p.Ile469=) rs75860159 0.00222
NM_005271.5(GLUD1):c.909A>C (p.Thr303=) rs113997422 0.00222
NM_005343.4(HRAS):c.477G>A (p.Leu159=) rs140060409 0.00222
NM_006767.4(LZTR1):c.2187C>T (p.Tyr729=) rs117346988 0.00222
NM_014795.4(ZEB2):c.2887-4G>A rs147972125 0.00222
NM_015335.5(MED13L):c.1283A>G (p.His428Arg) rs144410580 0.00222
NM_025132.4(WDR19):c.1915A>G (p.Ser639Gly) rs150649460 0.00222
NM_025215.6(PUS1):c.22C>T (p.Leu8=) rs139227671 0.00222
NM_000393.5(COL5A2):c.4197G>A (p.Gln1399=) rs78870279 0.00221
NM_001083961.2(WDR62):c.269+19C>T rs140267028 0.00221
NM_001351132.2(PEX5):c.1521C>T (p.Ala507=) rs150761638 0.00221
NM_001379286.1(ZNF423):c.2133G>A (p.Ser711=) rs143934881 0.00221
NM_002334.4(LRP4):c.1494C>T (p.Asn498=) rs61749083 0.00221
NM_003098.3(SNTA1):c.1426-5T>C rs183939417 0.00221
NM_003850.3(SUCLA2):c.811A>G (p.Met271Val) rs142020748 0.00221
NM_004304.5(ALK):c.592G>A (p.Val198Met) rs77677701 0.00221
NM_005055.5(RAPSN):c.913-15A>G rs185204384 0.00221
NM_005359.6(SMAD4):c.1140-10T>C rs186332162 0.00221
NM_021922.3(FANCE):c.1310T>C (p.Met437Thr) rs142903218 0.00221
NM_000079.4(CHRNA1):c.655C>T (p.Leu219=) rs150638770 0.00220
NM_000088.4(COL1A1):c.*548C>A rs557681960 0.00220
NM_000089.4(COL1A2):c.594+5A>T rs200744314 0.00220
NM_000280.4(PAX6):c.*1063A>G rs117590302 0.00220
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889 0.00220
NM_001044385.3(TMEM237):c.136+8G>A rs200618675 0.00220
NM_001378964.1(CDON):c.1500C>T (p.Cys500=) rs142388716 0.00220
NM_002472.3(MYH8):c.225G>C (p.Arg75Ser) rs146732664 0.00220
NM_020975.6(RET):c.*1812C>A rs183817000 0.00220
NM_022168.4(IFIH1):c.2899-4C>T rs114541610 0.00220
NM_023110.3(FGFR1):c.*723G>C rs17182477 0.00220
NM_025136.4(OPA3):c.*540G>T rs149360920 0.00220
NM_147127.5(EVC2):c.2151C>T (p.His717=) rs144584049 0.00220
NM_181486.4(TBX5):c.*121A>G rs112051831 0.00220
NM_198253.3(TERT):c.1574-7G>A rs34846301 0.00220
NM_000135.4(FANCA):c.3514-4A>G rs149388130 0.00219
NM_002181.4(IHH):c.*25G>T rs76709099 0.00219
NM_002181.4(IHH):c.*83A>T rs538403599 0.00219
NM_002449.5(MSX2):c.*1249T>C rs139249455 0.00219
NM_000466.3(PEX1):c.330C>G (p.Pro110=) rs71560821 0.00218
NM_002386.4(MC1R):c.699G>A (p.Gln233=) rs146544450 0.00218
NM_002470.4(MYH3):c.2289+4A>G rs111835858 0.00218
NM_003070.5(SMARCA2):c.*181C>T rs180701505 0.00218
NM_003640.5(ELP1):c.2543C>A (p.Thr848Asn) rs10979599 0.00218
NM_004525.3(LRP2):c.10647G>A (p.Pro3549=) rs17848184 0.00218
NM_005045.4(RELN):c.9321C>T (p.Leu3107=) rs150387973 0.00218
NM_017780.4(CHD7):c.1536A>G (p.Pro512=) rs148577619 0.00218
NM_018718.3(CEP41):c.616C>G (p.Pro206Ala) rs143303575 0.00218
NM_020751.3(COG6):c.729C>T (p.Asp243=) rs117688574 0.00218
NM_032444.4(SLX4):c.2290C>G (p.Pro764Ala) rs151105762 0.00218
NM_000528.4(MAN2B1):c.1068C>G (p.Pro356=) rs117880912 0.00217
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly) rs56157422 0.00217
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_004525.3(LRP2):c.12379C>A (p.Arg4127Ser) rs148356370 0.00217
NM_005592.4(MUSK):c.2202C>T (p.Gly734=) rs143701488 0.00217
NM_005633.4(SOS1):c.1230G>A (p.Gln410=) rs141390073 0.00217
NM_005751.5(AKAP9):c.11225G>C (p.Arg3742Pro) rs34101758 0.00217
NM_014423.4(AFF4):c.3319A>G (p.Thr1107Ala) rs139490054 0.00217
NM_017780.4(CHD7):c.216T>C (p.Tyr72=) rs16926453 0.00217
NM_021044.4(DHH):c.188C>G (p.Ala63Gly) rs142269288 0.00217
NM_030632.3(ASXL3):c.5002G>A (p.Val1668Met) rs143578678 0.00217
NM_030632.3(ASXL3):c.6359C>T (p.Ala2120Val) rs151081332 0.00217
NM_000314.8(PTEN):c.*2162A>G rs574993688 0.00216
NM_000466.3(PEX1):c.2442C>T (p.Phe814=) rs145430946 0.00216
NM_000925.4(PDHB):c.132T>C (p.Asp44=) rs11542399 0.00216
NM_001386795.1(DTNA):c.1176-8T>C rs41274310 0.00216
NM_003482.4(KMT2D):c.11141G>A (p.Arg3714Lys) rs186696516 0.00216
NM_005055.5(RAPSN):c.960G>A (p.Gly320=) rs145357531 0.00216
NM_005732.4(RAD50):c.2670G>A (p.Gln890=) rs112241748 0.00216
NM_139125.4(MASP1):c.1521G>A (p.Thr507=) rs139497497 0.00216
NM_001042492.3(NF1):c.4836-21229G>C rs17884293 0.00215
NM_001083961.2(WDR62):c.4312-5T>G rs182467995 0.00215
NM_005236.3(ERCC4):c.1812-5T>C rs2020952 0.00215
NM_014140.4(SMARCAL1):c.1271A>T (p.Asp424Val) rs2066520 0.00215
NM_015139.3(SLC35D1):c.730-8T>C rs138429988 0.00215
NM_022725.4(FANCF):c.*106T>C rs16909782 0.00215
NM_022725.4(FANCF):c.786A>G (p.Leu262=) rs11026706 0.00215
NM_001365276.2(TNXB):c.909C>G (p.Gly303=) rs111244635 0.00214
NM_001367624.2(ZNF469):c.8381C>T (p.Thr2794Met) rs202188220 0.00214
NM_001854.4(COL11A1):c.4140+13T>A rs374901069 0.00214
NM_022168.4(IFIH1):c.2785G>A (p.Val929Ile) rs140562355 0.00214
NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp) rs77021998 0.00214
NM_000057.4(BLM):c.254G>C (p.Arg85Thr) rs141503266 0.00213
NM_000414.4(HSD17B4):c.715-13C>T rs185869017 0.00213
NM_000466.3(PEX1):c.473-3C>T rs150576000 0.00213
NM_001003722.2(GLE1):c.433-15A>C rs752897261 0.00213
NM_001044385.3(TMEM237):c.554-15G>A rs144051344 0.00213
NM_001151.4(SLC25A4):c.*1792C>A rs3733653 0.00213
NM_001371623.1(TCOF1):c.3438T>G (p.Ser1146Arg) rs200424706 0.00213
NM_002334.4(LRP4):c.*1151C>T rs116705878 0.00213
NM_006147.4(IRF6):c.*2472G>A rs188593210 0.00213
NM_025074.7(FRAS1):c.4969+9A>C rs147019759 0.00213
NM_152564.5(VPS13B):c.5501C>T (p.Ser1834Leu) rs144257406 0.00213
NM_000077.5(CDKN2A):c.150+37G>C rs45456595 0.00212
NM_005045.4(RELN):c.1442-8T>C rs181761096 0.00212
NM_005045.4(RELN):c.5618C>T (p.Thr1873Ile) rs41275239 0.00212
NM_005751.5(AKAP9):c.510G>C (p.Glu170Asp) rs144888041 0.00212
NM_021252.5(RAB18):c.*4131A>G rs540759797 0.00212
NM_021922.3(FANCE):c.253C>T (p.Pro85Ser) rs145068586 0.00212
NM_021926.4(ALX4):c.*524C>T rs534068592 0.00212
NM_052989.3(IFT122):c.2294A>C (p.Lys765Thr) rs146026277 0.00212
NM_130837.3(OPA1):c.321G>A (p.Ser107=) rs117888848 0.00212
NM_145068.4(TRPV3):c.2358G>T (p.Pro786=) rs75372730 0.00212
NM_152564.5(VPS13B):c.4746-14C>T rs112780006 0.00212
NM_000314.8(PTEN):c.*2173C>T rs186996550 0.00211
NM_001001433.3(STX16):c.*1797C>G rs148109645 0.00211
NM_001044385.3(TMEM237):c.1134T>C (p.Tyr378=) rs77570029 0.00211
NM_001109878.2(TBX22):c.*347T>C rs142483621 0.00211
NM_001128225.3(SLC39A13):c.216C>T (p.Leu72=) rs34986695 0.00211
NM_001202.6(BMP4):c.228T>A (p.Ser76Arg) rs114957446 0.00211
NM_003738.5(PTCH2):c.2695+8T>C rs145066065 0.00211
NM_017946.4(FKBP14):c.495G>A (p.Lys165=) rs142474407 0.00211
NM_080632.3(UPF3B):c.764G>A (p.Arg255Lys) rs142862074 0.00211
NM_130837.3(OPA1):c.*376A>G rs142349183 0.00211
NM_001044385.3(TMEM237):c.396-14C>T rs74411816 0.00210
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637 0.00210
NM_005413.4(SIX3):c.109G>T (p.Gly37Cys) rs199823175 0.00210
NM_005751.5(AKAP9):c.6331-8T>C rs186211000 0.00210
NM_013275.6(ANKRD11):c.4317G>A (p.Lys1439=) rs61743619 0.00210
NM_014141.6(CNTNAP2):c.551-11T>G rs78223661 0.00210
NM_021625.5(TRPV4):c.*365C>T rs184413363 0.00210
NM_022095.4(ZNF335):c.3820-11C>T rs191147826 0.00210
NM_138959.3(VANGL1):c.*1043A>G rs150705915 0.00210
NM_173660.5(DOK7):c.919G>A (p.Ala307Thr) rs150415034 0.00210
NM_000514.4(GDNF):c.*1541T>A rs138502514 0.00209
NM_000719.7(CACNA1C):c.1176G>T (p.Gly392=) rs1051360 0.00209
NM_001040167.2(LFNG):c.75C>T (p.Thr25=) rs767338996 0.00209
NM_001351132.2(PEX5):c.604G>C (p.Val202Leu) rs149102738 0.00209
NM_001374828.1(ARID1B):c.1194A>C (p.Gly398=) rs112474841 0.00209
NM_002470.4(MYH3):c.-63G>A rs141754213 0.00209
NM_002541.4(OGDH):c.936-7G>A rs116644435 0.00209
NM_000181.4(GUSB):c.1359G>A (p.Ala453=) rs118066970 0.00208
NM_000284.4(PDHA1):c.*857A>G rs182836908 0.00208
NM_000431.4(MVK):c.381G>A (p.Pro127=) rs140397628 0.00208
NM_000553.6(WRN):c.4192-39T>C rs143460277 0.00208
NM_001122630.2(CDKN1C):c.99C>T (p.Arg33=) rs149717696 0.00208
NM_001148.6(ANK2):c.6648C>G (p.Gly2216=) rs140926982 0.00208
NM_001203.3(BMPR1B):c.*2411T>A rs145989039 0.00208
NM_001291415.2(KDM6A):c.88G>A (p.Ala30Thr) rs6529 0.00208
NM_001367624.2(ZNF469):c.11568C>T (p.Arg3856=) rs367547260 0.00208
NM_001367624.2(ZNF469):c.8064C>T (p.Asp2688=) rs558108271 0.00208
NM_004456.5(EZH2):c.1852-6C>T rs78589034 0.00208
NM_005359.6(SMAD4):c.*2989A>G rs139526377 0.00208
NM_005592.4(MUSK):c.666T>C (p.Asn222=) rs56044404 0.00208
NM_021252.5(RAB18):c.*3521C>T rs142174174 0.00208
NM_033159.4(HYAL1):c.1175C>T (p.Thr392Met) rs117179004 0.00208
NM_000093.5(COL5A1):c.*58C>T rs56259444 0.00207
NM_000138.5(FBN1):c.*1245C>T rs181099623 0.00207
NM_000168.6(GLI3):c.3664C>T (p.Pro1222Ser) rs118149040 0.00207
NM_000335.5(SCN5A):c.354C>T (p.His118=) rs45533640 0.00207
NM_000431.4(MVK):c.-15+11G>A rs192335177 0.00207
NM_001148.6(ANK2):c.11860-18T>G rs138978479 0.00207
NM_001379286.1(ZNF423):c.2013G>A (p.Ala671=) rs143468235 0.00207
NM_005219.5(DIAPH1):c.1985G>A (p.Gly662Asp) rs200735096 0.00207
NM_005592.4(MUSK):c.914-14T>G rs146206123 0.00207
NM_014314.4(RIGI):c.1059C>T (p.Asn353=) rs45471397 0.00207
NM_017617.5(NOTCH1):c.4626C>T (p.Asp1542=) rs142375989 0.00207
NM_022168.4(IFIH1):c.2362G>A (p.Ala788Thr) rs148369169 0.00207
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_145020.5(CFAP53):c.494G>A (p.Arg165His) rs138848935 0.00207
NM_147127.5(EVC2):c.18C>T (p.Ser6=) rs556910528 0.00207
NM_000116.5(TAFAZZIN):c.646+14C>T rs191527230 0.00206
NM_000352.6(ABCC8):c.2391-17G>T rs201484528 0.00206
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_002857.4(PEX19):c.261C>T (p.Phe87=) rs146644725 0.00206
NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys) rs147232392 0.00206
NM_004168.4(SDHA):c.1623G>A (p.Lys541=) rs35502109 0.00206
NM_004380.3(CREBBP):c.293G>T (p.Gly98Val) rs141982003 0.00206
NM_012414.4(RAB3GAP2):c.3966A>G (p.Lys1322=) rs150226729 0.00206
NM_014795.4(ZEB2):c.1480C>T (p.Pro494Ser) rs144952836 0.00206
NM_015450.3(POT1):c.924A>G (p.Gln308=) rs34398311 0.00206
NM_020436.5(SALL4):c.2483C>T (p.Thr828Met) rs147158259 0.00206
NM_022455.5(NSD1):c.4520C>T (p.Thr1507Met) rs144900277 0.00206
NM_052989.3(IFT122):c.3129C>T (p.Arg1043=) rs76881473 0.00206
NM_000346.4(SOX9):c.685+8G>A rs117696751 0.00205
NM_001079872.2(CUL4B):c.1257-19T>C rs201629851 0.00205
NM_001122681.2(SH3BP2):c.*3295C>T rs572526957 0.00205
NM_001148.6(ANK2):c.2277+9C>T rs141965666 0.00205
NM_001202.6(BMP4):c.76T>C (p.Leu26=) rs74486266 0.00205
NM_001371623.1(TCOF1):c.3712G>A (p.Ala1238Thr) rs137960641 0.00205
NM_001394062.1(MACF1):c.3924G>A (p.Ser1308=) rs150560748 0.00205
NM_001999.4(FBN2):c.7471+6G>A rs200998513 0.00205
NM_002386.4(MC1R):c.792C>T (p.Ile264=) rs181269865 0.00205
NM_002470.4(MYH3):c.5067G>T (p.Leu1689=) rs112858125 0.00205
NM_003072.5(SMARCA4):c.*1G>T rs76118382 0.00205
NM_004304.5(ALK):c.2632+11dup rs766699720 0.00205
NM_004525.3(LRP2):c.10170-15T>G rs144579935 0.00205
NM_005908.4(MANBA):c.2191G>A (p.Val731Met) rs150554352 0.00205
NM_007254.4(PNKP):c.579G>A (p.Arg193=) rs145904995 0.00205
NM_015100.4(POGZ):c.860-5C>T rs144435581 0.00205
NM_015338.6(ASXL1):c.3745A>G (p.Met1249Val) rs146141075 0.00205
NM_022369.4(STRA6):c.1301-12C>T rs79510426 0.00205
NM_022369.4(STRA6):c.993G>A (p.Thr331=) rs116753967 0.00205
NM_030578.4(B9D2):c.88+6C>T rs112498529 0.00205
NM_147127.5(EVC2):c.2883A>C (p.Gly961=) rs149188988 0.00205
NM_153717.3(EVC):c.939+9C>T rs201282320 0.00205
NM_000071.3(CBS):c.939G>A (p.Thr313=) rs2228298 0.00204
NM_001329943.3(KIAA0586):c.974A>T (p.Glu325Val) rs144456198 0.00204
NM_004260.4(RECQL4):c.565G>A (p.Gly189Ser) rs34371341 0.00204
NM_005996.4(TBX3):c.1899C>T (p.Ser633=) rs200569006 0.00204
NM_012293.3(PXDN):c.3291C>A (p.Pro1097=) rs372463004 0.00204
NM_020806.5(GPHN):c.1414-15C>T rs183159303 0.00204
NM_080680.3(COL11A2):c.4458T>A (p.Gly1486=) rs143186319 0.00204
NM_152594.3(SPRED1):c.926T>C (p.Val309Ala) rs114636635 0.00204
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val) rs139142865 0.00203
NM_000284.4(PDHA1):c.*864G>A rs192450087 0.00203
NM_001011658.4(TRAPPC2):c.*641G>A rs752947538 0.00203
NM_001148.6(ANK2):c.10371G>A (p.Thr3457=) rs142908806 0.00203
NM_001354604.2(MITF):c.880+9C>G rs181810413 0.00203
NM_001378964.1(CDON):c.1310G>A (p.Arg437His) rs114866803 0.00203
NM_002968.3(SALL1):c.379G>C (p.Val127Leu) rs138635817 0.00203
NM_004260.4(RECQL4):c.2817G>A (p.Ala939=) rs202045203 0.00203
NM_005629.4(SLC6A8):c.1496-18C>T rs201867256 0.00203
NM_022166.4(XYLT1):c.2028-15C>T rs150179077 0.00203
NM_198525.3(KIF7):c.2981A>G (p.Gln994Arg) rs138410949 0.00203
NM_000353.3(TAT):c.1242T>C (p.Asn414=) rs141256835 0.00202
NM_001005498.4(RHBDF2):c.1599C>T (p.Ser533=) rs145102618 0.00202
NM_001329943.3(KIAA0586):c.3283A>C (p.Lys1095Gln) rs140565291 0.00202
NM_001365276.2(TNXB):c.8598C>T (p.Val2866=) rs141752970 0.00202
NM_001378964.1(CDON):c.*916G>A rs79576369 0.00202
NM_004239.4(TRIP11):c.4413A>C (p.Thr1471=) rs144780536 0.00202
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) rs1800338 0.00201
NM_000314.8(PTEN):c.*1945G>A rs567800059 0.00201
NM_001354604.2(MITF):c.366C>T (p.His122=) rs140663277 0.00201
NM_001370595.2(COA8):c.476+19C>T rs182242924 0.00201
NM_002181.4(IHH):c.*248C>A rs79195401 0.00201
NM_003098.3(SNTA1):c.311-6G>C rs139532210 0.00201
NM_006121.4(KRT1):c.1074C>T (p.Tyr358=) rs150503977 0.00201
NM_020779.4(WDR35):c.1524+11C>A rs200213874 0.00201
NM_000314.8(PTEN):c.*1702G>A rs150265244 0.00200
NM_000314.8(PTEN):c.*353C>T rs181234898 0.00200
NM_000314.8(PTEN):c.*788T>C rs138309082 0.00200
NM_000368.5(TSC1):c.*2109C>T rs73552808 0.00200
NM_000493.4(COL10A1):c.593G>A (p.Arg198His) rs148785195 0.00200
NM_000719.7(CACNA1C):c.1794C>T (p.Gly598=) rs116491041 0.00200
NM_001110792.2(MECP2):c.933C>T (p.Thr311=) rs61748423 0.00200
NM_001113378.2(FANCI):c.3592-8T>C rs185599057 0.00200
NM_001365276.2(TNXB):c.5937C>T (p.Thr1979=) rs3749963 0.00200
NM_001365276.2(TNXB):c.9438G>A (p.Thr3146=) rs202162469 0.00200
NM_001999.4(FBN2):c.738G>A (p.Ala246=) rs150087436 0.00200
NM_002386.4(MC1R):c.-323G>A rs3212362 0.00200
NM_003072.5(SMARCA4):c.4768+10G>A rs201665695 0.00200
NM_003482.4(KMT2D):c.6752C>T (p.Ser2251Leu) rs189199944 0.00200
NM_003611.3(OFD1):c.517+20T>C rs139112266 0.00200
NM_007059.4(KPTN):c.788-14T>C rs199953161 0.00200
NM_017617.5(NOTCH1):c.7289G>C (p.Gly2430Ala) rs36049318 0.00200
NM_020436.5(SALL4):c.2038G>A (p.Gly680Ser) rs139022152 0.00200
NM_020964.3(EPG5):c.2259C>T (p.Asp753=) rs142253896 0.00200
NM_203486.3(DLL3):c.390G>A (p.Glu130=) rs113780398 0.00200
NM_000095.3(COMP):c.218-15C>A rs542886784 0.00199
NM_000393.5(COL5A2):c.1454C>A (p.Pro485Gln) rs145281966 0.00199
NM_001308093.3(GATA4):c.99G>T (p.Ala33=) rs56166237 0.00199
NM_001814.6(CTSC):c.1146C>T (p.His382=) rs45558734 0.00199
NM_006329.4(FBLN5):c.-152C>T rs139387007 0.00199
NM_138959.3(VANGL1):c.*1772A>G rs114033235 0.00199
NM_182760.4(SUMF1):c.642G>A (p.Ala214=) rs141017221 0.00199
NM_194318.4(B3GLCT):c.271-8T>C rs183322816 0.00199
NM_000168.6(GLI3):c.840C>G (p.Ser280=) rs77084911 0.00198
NM_000214.3(JAG1):c.1007-16A>G rs201709907 0.00198
NM_000280.4(PAX6):c.*1478C>T rs181818313 0.00198
NM_001365276.2(TNXB):c.6513C>T (p.Arg2171=) rs117336748 0.00198
NM_001365276.2(TNXB):c.8594T>C (p.Met2865Thr) rs373158501 0.00198
NM_001365276.2(TNXB):c.9643G>A (p.Glu3215Lys) rs2075563 0.00198
NM_004168.4(SDHA):c.1551+16C>T rs184954254 0.00198
NM_004260.4(RECQL4):c.2223C>T (p.Ala741=) rs34271972 0.00198
NM_005045.4(RELN):c.2303+16G>T rs188276472 0.00198
NM_020975.6(RET):c.337+12G>A rs200468424 0.00198
NM_025114.4(CEP290):c.251-11T>A rs200666995 0.00198
NM_000181.4(GUSB):c.1041T>C (p.Gly347=) rs141303888 0.00197
NM_001365276.2(TNXB):c.4885G>A (p.Glu1629Lys) rs78493656 0.00197
NM_001365951.3(KIF1B):c.*2895G>A rs184232081 0.00197
NM_001371623.1(TCOF1):c.3426C>T (p.Ser1142=) rs138291748 0.00197
NM_024426.6(WT1):c.309C>A (p.Gly103=) rs547333427 0.00197
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_001015880.2(PAPSS2):c.861A>G (p.Leu287=) rs150727538 0.00196
NM_003722.5(TP63):c.399C>T (p.Pro133=) rs145730343 0.00196
NM_006015.6(ARID1A):c.318C>T (p.Asn106=) rs551186176 0.00196
NM_018127.7(ELAC2):c.174G>A (p.Val58=) rs2286334 0.00196
NM_022455.5(NSD1):c.2295C>T (p.Asn765=) rs146767413 0.00196
NM_170665.4(ATP2A2):c.1323A>G (p.Thr441=) rs148550709 0.00196
NM_001042492.3(NF1):c.5035A>G (p.Ile1679Val) rs147327414 0.00195
NM_001329943.3(KIAA0586):c.4496-16C>T rs111487478 0.00195
NM_001361.5(DHODH):c.983C>T (p.Pro328Leu) rs79673084 0.00195
NM_001371623.1(TCOF1):c.4346-17T>A rs76350524 0.00195
NM_001614.5(ACTG1):c.684C>T (p.Ala228=) rs143125497 0.00195
NM_001852.4(COL9A2):c.312C>T (p.Pro104=) rs144072834 0.00195
NM_003482.4(KMT2D):c.5220C>T (p.Ala1740=) rs200369026 0.00195
NM_004304.5(ALK):c.1110G>A (p.Glu370=) rs138784554 0.00195
NM_004525.3(LRP2):c.12380G>A (p.Arg4127His) rs142934522 0.00195
NM_004525.3(LRP2):c.2513+14T>C rs201785482 0.00195
NM_005908.4(MANBA):c.2180C>T (p.Ser727Phe) rs147437033 0.00195
NM_015272.5(RPGRIP1L):c.2673G>A (p.Arg891=) rs61742381 0.00195
NM_015443.4(KANSL1):c.3091-18C>G rs186216018 0.00195
NM_017617.5(NOTCH1):c.2813G>A (p.Arg938Gln) rs35962301 0.00195
NM_130468.4(CHST14):c.288G>A (p.Arg96=) rs371684007 0.00195
NM_000044.6(AR):c.1139C>G (p.Pro380Arg) rs200510049 0.00194
NM_000090.4(COL3A1):c.*828G>T rs372150712 0.00194
NM_000093.5(COL5A1):c.1158C>T (p.Ser386=) rs61729497 0.00194
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373 0.00194
NM_000233.4(LHCGR):c.*535G>A rs534109670 0.00194
NM_000280.4(PAX6):c.*4370C>G rs183115097 0.00194
NM_000368.5(TSC1):c.*1127C>T rs139119563 0.00194
NM_000719.7(CACNA1C):c.4829-7G>A rs137904817 0.00194
NM_001082538.3(TCTN1):c.1387T>C (p.Trp463Arg) rs114568905 0.00194
NM_001134831.2(AHI1):c.3039G>A (p.Gln1013=) rs142381345 0.00194
NM_001354604.2(MITF):c.*836G>T rs558793046 0.00194
NM_001378615.1(CC2D2A):c.4202C>G (p.Thr1401Ser) rs143947747 0.00194
NM_002470.4(MYH3):c.1932C>T (p.Ser644=) rs115612890 0.00194
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=) rs113194608 0.00194
NM_014165.4(NDUFAF4):c.120G>A (p.Leu40=) rs117908219 0.00194
NM_014795.4(ZEB2):c.807+3G>C rs144925893 0.00194
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=) rs75091137 0.00194
NM_152564.5(VPS13B):c.11619G>C (p.Val3873=) rs113454700 0.00194
NM_181486.4(TBX5):c.114C>T (p.Ser38=) rs34014008 0.00194
NM_000141.5(FGFR2):c.-46G>A rs201606812 0.00193
NM_000168.6(GLI3):c.280C>T (p.Leu94=) rs115137047 0.00193
NM_000368.5(TSC1):c.2865C>T (p.Thr955=) rs45468995 0.00193
NM_000553.6(WRN):c.2983G>A (p.Ala995Thr) rs140768346 0.00193
NM_001130144.3(LTBP3):c.3548-9T>C rs149115544 0.00193
NM_001271938.2(MEGF8):c.5412G>A (p.Ser1804=) rs139648725 0.00193
NM_001371623.1(TCOF1):c.1269G>A (p.Ala423=) rs72492454 0.00193
NM_002541.4(OGDH):c.1188C>T (p.Gly396=) rs147519663 0.00193
NM_002834.5(PTPN11):c.*2078G>A rs144513512 0.00193
NM_015937.6(PIGT):c.675T>C (p.Val225=) rs147475258 0.00193
NM_020297.4(ABCC9):c.1677G>A (p.Ala559=) rs76458291 0.00193
NM_024757.5(EHMT1):c.480C>T (p.Gly160=) rs150135875 0.00193
NM_025215.6(PUS1):c.1197C>T (p.Phe399=) rs35461276 0.00193
NM_000093.5(COL5A1):c.378G>T (p.Gln126His) rs145178917 0.00192
NM_000335.5(SCN5A):c.6007T>C (p.Phe2003Leu) rs41311117 0.00192
NM_000393.5(COL5A2):c.-50C>T rs183260194 0.00192
NM_002010.3(FGF9):c.*1266A>G rs370206395 0.00192
NM_022168.4(IFIH1):c.427C>T (p.Leu143=) rs143902922 0.00192
NM_022369.4(STRA6):c.1836C>T (p.Asp612=) rs142048815 0.00192
NM_022836.4(DCLRE1B):c.1302C>T (p.His434=) rs144843243 0.00192
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00191
NM_000168.6(GLI3):c.444C>T (p.Tyr148=) rs142241970 0.00191
NM_000193.4(SHH):c.869G>A (p.Gly290Asp) rs104894047 0.00191
NM_001330078.2(NRXN1):c.4473G>A (p.Ala1491=) rs113380721 0.00191
NM_001378964.1(CDON):c.*2291T>C rs192250689 0.00191
NM_003072.5(SMARCA4):c.4227A>G (p.Ser1409=) rs61761958 0.00191
NM_005105.5(RBM8A):c.205+17C>A rs115417561 0.00191
NM_006623.4(PHGDH):c.1158G>T (p.Ala386=) rs144484007 0.00191
NM_014704.4(CEP104):c.1169A>G (p.His390Arg) rs145728798 0.00191
NM_021625.5(TRPV4):c.1713C>G (p.Ile571Met) rs185933892 0.00191
NM_000088.4(COL1A1):c.4006-33G>A rs201920224 0.00190
NM_000263.4(NAGLU):c.1860C>T (p.Ser620=) rs151013014 0.00190
NM_000318.3(PEX2):c.91C>G (p.Gln31Glu) rs149287302 0.00190
NM_001042492.3(NF1):c.2553C>T (p.Cys851=) rs2230852 0.00190
NM_001083962.2(TCF4):c.*3938G>A rs186817281 0.00190
NM_001127649.3(PEX26):c.325T>C (p.Tyr109His) rs45567240 0.00190
NM_005045.4(RELN):c.8120-9T>C rs74952625 0.00190
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069 0.00190
NM_012293.3(PXDN):c.4207-6C>T rs117207020 0.00190
NM_022455.5(NSD1):c.1149C>T (p.Ile383=) rs34921128 0.00190
NM_024757.5(EHMT1):c.3735C>T (p.Arg1245=) rs141797498 0.00190
NM_080605.4(B3GALT6):c.909G>A (p.Glu303=) rs368507303 0.00190
NM_139125.4(MASP1):c.893-14T>G rs188032187 0.00190
NM_145068.4(TRPV3):c.*2153A>G rs545225352 0.00190
NM_181486.4(TBX5):c.*909A>G rs184360838 0.00190
NM_198859.4(PRICKLE2):c.444C>T (p.Arg148=) rs146538069 0.00190
NM_000280.4(PAX6):c.*2506C>T rs3026397 0.00189
NM_000287.4(PEX6):c.882+15_882+16del rs555409430 0.00189
NM_000414.4(HSD17B4):c.281-7A>G rs35201279 0.00189
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu) rs2230850 0.00189
NM_001291867.2(NHS):c.3545C>T (p.Pro1182Leu) rs145977627 0.00189
NM_001360.3(DHCR7):c.321+10C>T rs377108406 0.00189
NM_001368809.2(AMPD2):c.708T>G (p.Pro236=) rs114624650 0.00189
NM_001374828.1(ARID1B):c.3681C>T (p.Tyr1227=) rs61736269 0.00189
NM_001384732.1(CPLANE1):c.765A>C (p.Gly255=) rs117995360 0.00189
NM_003072.5(SMARCA4):c.*401G>A rs559071626 0.00189
NM_020458.4(TTC7A):c.1617G>A (p.Ser539=) rs112085853 0.00189
NM_022455.5(NSD1):c.4378+26C>T rs139601377 0.00189
NM_000027.4(AGA):c.623-7C>T rs201125635 0.00188
NM_000071.3(CBS):c.954+8G>A rs76292057 0.00188
NM_000075.4(CDK4):c.-60C>G rs541752163 0.00188
NM_000348.4(SRD5A2):c.337C>G (p.Leu113Val) rs28383048 0.00188
NM_000466.3(PEX1):c.3810T>A (p.Ser1270Arg) rs139054881 0.00188
NM_001080432.3(FTO):c.*1403C>T rs147129925 0.00188
NM_001082486.2(ACD):c.1336C>T (p.Leu446=) rs1050346 0.00188
NM_001104631.2(PDE4D):c.-58G>T rs561124800 0.00188
NM_001113378.2(FANCI):c.2447C>G (p.Ala816Gly) rs151178507 0.00188
NM_001267550.2(TTN):c.4328T>C (p.Leu1443Pro) rs142317580 0.00188
NM_001371623.1(TCOF1):c.1028G>A (p.Ser343Asn) rs144327167 0.00188
NM_002148.4(HOXD10):c.998T>C (p.Leu333Pro) rs144160937 0.00188
NM_002465.4(MYBPC1):c.420C>T (p.Thr140=) rs140667525 0.00188
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720 0.00188
NM_003052.5(SLC34A1):c.284G>A (p.Arg95His) rs145798898 0.00188
NM_004208.4(AIFM1):c.1227T>G (p.Thr409=) rs61730898 0.00188
NM_004239.4(TRIP11):c.5246A>C (p.Glu1749Ala) rs2273183 0.00188
NM_006031.6(PCNT):c.5710G>A (p.Ala1904Thr) rs200426591 0.00188
NM_006757.4(TNNT3):c.*36C>T rs147535560 0.00188
NM_020779.4(WDR35):c.2566G>T (p.Val856Phe) rs149667250 0.00188
NM_021926.4(ALX4):c.*1913G>A rs189662898 0.00188
NM_022455.5(NSD1):c.7850T>C (p.Leu2617Ser) rs77618751 0.00188
NM_024426.6(WT1):c.123G>C (p.Pro41=) rs555140661 0.00188
NM_024809.5(TCTN2):c.1985-12A>G rs78123598 0.00188
NM_024809.5(TCTN2):c.654C>T (p.Leu218=) rs138897437 0.00188
NM_032444.4(SLX4):c.2328-9G>C rs73505419 0.00188
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala) rs140191346 0.00188
NM_153717.3(EVC):c.1369G>A (p.Glu457Lys) rs141859946 0.00188
NM_000141.5(FGFR2):c.2001C>G (p.Val667=) rs61731218 0.00187
NM_000256.3(MYBPC3):c.565G>A (p.Val189Ile) rs11570052 0.00187
NM_000284.4(PDHA1):c.-98C>T rs192773464 0.00187
NM_000368.5(TSC1):c.106+15A>G rs80258442 0.00187
NM_001134831.2(AHI1):c.1404A>G (p.Glu468=) rs36069919 0.00187
NM_003611.3(OFD1):c.2033C>G (p.Ala678Gly) rs143954823 0.00187
NM_003722.5(TP63):c.*2477T>G rs186295449 0.00187
NM_006859.4(LIAS):c.849C>T (p.Gly283=) rs146030265 0.00187
NM_017780.4(CHD7):c.8439C>T (p.Gly2813=) rs201132710 0.00187
NM_025114.4(CEP290):c.4237G>C (p.Asp1413His) rs183655276 0.00187
NM_052989.3(IFT122):c.273-331C>A rs116196975 0.00187
NM_145068.4(TRPV3):c.*2072A>C rs575890184 0.00187
NM_176787.5(PIGN):c.2503-14T>C rs200850641 0.00187
NM_000141.5(FGFR2):c.1673-12C>T rs41293763 0.00186
NM_000199.5(SGSH):c.1283G>A (p.Arg428His) rs144862290 0.00186
NM_001347721.2(DYRK1A):c.1039A>G (p.Thr347Ala) rs145857775 0.00186
NM_014795.4(ZEB2):c.3471C>T (p.Asp1157=) rs149526010 0.00186
NM_023110.3(FGFR1):c.*1439T>C rs11990198 0.00186
NM_080680.3(COL11A2):c.4392+12C>T rs117267045 0.00186
NM_133433.4(NIPBL):c.4320+14A>G rs377381536 0.00186
NM_133433.4(NIPBL):c.7830G>C (p.Val2610=) rs115668015 0.00186
NM_000079.4(CHRNA1):c.621C>T (p.Ser207=) rs74533173 0.00185
NM_000090.4(COL3A1):c.*674G>A rs190903102 0.00185
NM_000181.4(GUSB):c.222C>T (p.Thr74=) rs140016611 0.00185
NM_001042492.3(NF1):c.*126G>A rs184715593 0.00185
NM_001083962.2(TCF4):c.*3269T>A rs192850080 0.00185
NM_001122681.2(SH3BP2):c.*4179C>T rs111890780 0.00185
NM_001365951.3(KIF1B):c.*2T>C rs148690591 0.00185
NM_003000.3(SDHB):c.32G>A (p.Arg11His) rs111430410 0.00185
NM_005045.4(RELN):c.1377G>A (p.Arg459=) rs73712207 0.00185
NM_005413.4(SIX3):c.720G>T (p.Ala240=) rs191012035 0.00185
NM_006662.3(SRCAP):c.8454C>T (p.Pro2818=) rs140511721 0.00185
NM_013275.6(ANKRD11):c.5661A>G (p.Gln1887=) rs147726863 0.00185
NM_018718.3(CEP41):c.*655C>T rs141441037 0.00185
NM_018718.3(CEP41):c.575-12T>C rs186638258 0.00185
NM_021926.4(ALX4):c.*46G>A rs72905941 0.00185
NM_022725.4(FANCF):c.246C>T (p.Asn82=) rs139724351 0.00185
NM_025136.3(OPA3):c.-113T>C rs139731330 0.00185
NM_198173.3(GRHL3):c.471C>T (p.Ala157=) rs139093980 0.00185
NM_000135.4(FANCA):c.694A>C (p.Arg232=) rs61757384 0.00184
NM_001202.6(BMP4):c.*148A>T rs76335800 0.00184
NM_001329943.3(KIAA0586):c.698G>A (p.Arg233Lys) rs193056942 0.00184
NM_003611.3(OFD1):c.1654+8A>G rs200767363 0.00184
NM_012293.3(PXDN):c.488+8G>C rs142878073 0.00184
NM_014244.5(ADAMTS2):c.1488C>T (p.Phe496=) rs147438064 0.00184
NM_015559.3(SETBP1):c.1483T>A (p.Ser495Thr) rs138515058 0.00184
NM_021625.5(TRPV4):c.2498A>G (p.Asn833Ser) rs116035946 0.00184
NM_025136.4(OPA3):c.*422C>T rs116977551 0.00184
NM_001083961.2(WDR62):c.4338C>T (p.Thr1446=) rs149289227 0.00183
NM_001122630.2(CDKN1C):c.675G>A (p.Glu225=) rs3741341 0.00183
NM_001382391.1(CSPP1):c.965A>G (p.His322Arg) rs141389465 0.00183
NM_003849.4(SUCLG1):c.291C>T (p.Gly97=) rs35996428 0.00183
NM_004525.3(LRP2):c.10233C>T (p.Phe3411=) rs139363553 0.00183
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_024757.5(EHMT1):c.3016G>A (p.Val1006Met) rs33999936 0.00183
NM_030662.4(MAP2K2):c.580+6G>A rs201435249 0.00183
NM_032520.5(GNPTG):c.741+5C>T rs201263537 0.00183
NM_176787.5(PIGN):c.2751G>T (p.Thr917=) rs200481058 0.00183
NM_213599.3(ANO5):c.1095A>G (p.Leu365=) rs35804601 0.00183
NM_000093.5(COL5A1):c.4230+5C>T rs142248898 0.00182
NM_000719.7(CACNA1C):c.5665C>T (p.Arg1889Cys) rs185788586 0.00182
NM_000890.5(KCNJ5):c.192C>T (p.His64=) rs140848236 0.00182
NM_001025295.3(IFITM5):c.384C>T (p.Asp128=) rs144153945 0.00182
NM_001077418.3(TMEM231):c.91G>A (p.Ala31Thr) rs202215735 0.00182
NM_001083962.2(TCF4):c.73-3T>C rs148658897 0.00182
NM_002181.4(IHH):c.873G>A (p.Arg291=) rs149554120 0.00182
NM_006796.3(AFG3L2):c.1664-9T>C rs200476229 0.00182
NM_015311.3(OBSL1):c.375G>A (p.Glu125=) rs374656370 0.00182
NM_015335.5(MED13L):c.1215T>G (p.Pro405=) rs147976467 0.00182
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=) rs61751539 0.00182
NM_000089.4(COL1A2):c.*605A>G rs537557756 0.00181
NM_001370259.2(MEN1):c.597C>T (p.His199=) rs150512958 0.00181
NM_001374353.1(GLI2):c.3477G>T (p.Gln1159His) rs139686081 0.00181
NM_014846.4(WASHC5):c.2771-7T>C rs142685897 0.00181
NM_173660.5(DOK7):c.1278C>T (p.Pro426=) rs139468087 0.00181
NM_201596.3(CACNB2):c.1511C>T (p.Thr504Ile) rs143326262 0.00181
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln) rs145895196 0.00180
NM_000428.3(LTBP2):c.2966C>G (p.Pro989Arg) rs76172717 0.00180
NM_001368894.2(PAX6):c.1075-275A>C rs3026392 0.00180
NM_003413.4(ZIC3):c.270C>T (p.His90=) rs369721947 0.00180
NM_004168.4(SDHA):c.1911C>T (p.Val637=) rs11557098 0.00180
NM_012233.3(RAB3GAP1):c.*404C>T rs149483456 0.00180
NM_021926.4(ALX4):c.*262G>A rs560751940 0.00180
NM_022552.5(DNMT3A):c.1430-13C>T rs200380351 0.00180
NM_000088.4(COL1A1):c.3531+10C>A rs41316721 0.00179
NM_001999.4(FBN2):c.5353+19C>T rs183524866 0.00179
NM_003000.3(SDHB):c.423+20T>A rs190139590 0.00179
NM_004565.3(PEX14):c.825G>A (p.Ser275=) rs143412169 0.00179
NM_145054.5(CFAP52):c.213C>T (p.Ala71=) rs143579503 0.00179
NM_000202.8(IDS):c.418+12T>C rs470986 0.00178
NM_000287.4(PEX6):c.2436G>A (p.Arg812=) rs61732156 0.00178
NM_000318.3(PEX2):c.477G>A (p.Gln159=) rs35218706 0.00178
NM_001015880.2(PAPSS2):c.276T>C (p.Ser92=) rs17124941 0.00178
NM_001083962.2(TCF4):c.1419G>C (p.Pro473=) rs143944746 0.00178
NM_001148.6(ANK2):c.11465G>C (p.Gly3822Ala) rs79577190 0.00178
NM_001379286.1(ZNF423):c.312C>T (p.Asp104=) rs117266679 0.00178
NM_001999.4(FBN2):c.6551A>T (p.Asn2184Ile) rs149071226 0.00178
NM_002693.3(POLG):c.1950-43A>G rs74596434 0.00178
NM_003036.4(SKI):c.1211+19C>T rs182600375 0.00178
NM_003482.4(KMT2D):c.14382+20C>T rs114500210 0.00178
NM_006371.5(CRTAP):c.732C>T (p.Leu244=) rs149119710 0.00178
NM_014918.5(CHSY1):c.39G>A (p.Leu13=) rs764100516 0.00178
NM_015338.6(ASXL1):c.2957A>G (p.Asn986Ser) rs145132837 0.00178
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=) rs2234473 0.00178
NM_017617.5(NOTCH1):c.2124C>T (p.Tyr708=) rs376744729 0.00178
NM_020937.4(FANCM):c.5808C>T (p.Ser1936=) rs142333130 0.00178
NM_020964.3(EPG5):c.1571+7G>A rs202014798 0.00178
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903 0.00178
NM_133433.4(NIPBL):c.65-17G>C rs201348552 0.00178
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln) rs149318176 0.00178
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846 0.00178
NM_198253.3(TERT):c.2517G>A (p.Thr839=) rs140124989 0.00178
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile) rs368468 0.00177
NM_000314.8(PTEN):c.210-39A>G rs370918174 0.00177
NM_001042492.3(NF1):c.7062+210_7062+211insC rs1555535216 0.00177
NM_001271938.2(MEGF8):c.7041C>T (p.Asp2347=) rs145886667 0.00177
NM_001374353.1(GLI2):c.1935G>A (p.Ser645=) rs114259687 0.00177
NM_001453.3(FOXC1):c.1050C>T (p.Leu350=) rs767285866 0.00177
NM_004380.3(CREBBP):c.1149G>A (p.Pro383=) rs61759495 0.00177
NM_005629.4(SLC6A8):c.780C>T (p.Ile260=) rs148232368 0.00177
NM_014244.5(ADAMTS2):c.689-18G>A rs202114393 0.00177
NM_017780.4(CHD7):c.1179A>G (p.Pro393=) rs111238892 0.00177
NM_020458.4(TTC7A):c.2211G>A (p.Ala737=) rs142959785 0.00177
NM_052845.4(MMAB):c.185C>T (p.Thr62Met) rs115802744 0.00177
NM_152419.3(HGSNAT):c.828A>G (p.Thr276=) rs182393180 0.00177
NM_153427.2(PITX2):c.-1335C>A rs145638916 0.00177
NC_000005.10:g.173235491T>C rs118026695 0.00176
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln) rs112185887 0.00176
NM_000093.5(COL5A1):c.2695G>A (p.Gly899Ser) rs149964491 0.00176
NM_000256.3(MYBPC3):c.1608T>A (p.Ala536=) rs200224422 0.00176
NM_000503.6(EYA1):c.1200-11C>A rs181457812 0.00176
NM_001042492.3(NF1):c.8161-45A>C rs17879551 0.00176
NM_001083961.2(WDR62):c.3786C>T (p.Gly1262=) rs148415080 0.00176
NM_001122681.2(SH3BP2):c.*305C>T rs140456631 0.00176
NM_001614.5(ACTG1):c.985-5T>C rs370546734 0.00176
NM_001879.6(MASP1):c.1528A>G (p.Ser510Gly) rs28945070 0.00176
NM_000108.5(DLD):c.826A>T (p.Thr276Ser) rs148873419 0.00175
NM_000528.4(MAN2B1):c.2865G>C (p.Thr955=) rs148108322 0.00175
NM_000528.4(MAN2B1):c.609G>T (p.Glu203Asp) rs139290127 0.00175
NM_000719.7(CACNA1C):c.1669+10G>A rs576194052 0.00175
NM_000751.3(CHRND):c.1530C>T (p.Asn510=) rs114463490 0.00175
NM_001368894.2(PAX6):c.130C>A (p.Arg44=) rs141873759 0.00175
NM_001999.4(FBN2):c.7593A>G (p.Lys2531=) rs28763923 0.00175
NM_002471.4(MYH6):c.2293-12C>G rs115453571 0.00175
NM_004629.2(FANCG):c.1638T>C (p.Gly546=) rs45537335 0.00175
NM_004821.3(HAND1):c.247G>T (p.Gly83Trp) rs201302313 0.00175
NM_005359.6(SMAD4):c.*4748C>T rs375580807 0.00175
NM_005751.5(AKAP9):c.5978-4A>G rs147494754 0.00175
NM_014918.5(CHSY1):c.1176C>T (p.Pro392=) rs147287474 0.00175
NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=) rs3812602 0.00175
NM_021926.4(ALX4):c.*3123G>A rs182987016 0.00175
NM_000093.5(COL5A1):c.277+6T>G rs201910803 0.00174
NM_000168.6(GLI3):c.*1691C>T rs181261768 0.00174
NM_001354604.2(MITF):c.*2924C>T rs151043552 0.00174
NM_001365999.1(SZT2):c.7831C>T (p.Leu2611=) rs140744209 0.00174
NM_001626.6(AKT2):c.945G>A (p.Glu315=) rs150000674 0.00174
NM_004560.4(ROR2):c.2083G>A (p.Gly695Arg) rs34431454 0.00174
NM_005045.4(RELN):c.3008+11A>G rs186983114 0.00174
NM_000182.5(HADHA):c.2060T>C (p.Met687Thr) rs149632783 0.00173
NM_001005498.4(RHBDF2):c.525G>A (p.Arg175=) rs151290253 0.00173
NM_001365999.1(SZT2):c.7245C>T (p.Ser2415=) rs142822908 0.00173
NM_001382391.1(CSPP1):c.3285C>T (p.Pro1095=) rs201008264 0.00173
NM_004370.6(COL12A1):c.5727C>T (p.Tyr1909=) rs146146364 0.00173
NM_004370.6(COL12A1):c.8970T>C (p.Gly2990=) rs190501064 0.00173
NM_004560.4(ROR2):c.2395C>T (p.Pro799Ser) rs141235720 0.00173
NM_005908.4(MANBA):c.1254C>G (p.Ala418=) rs139157403 0.00173
NM_014704.4(CEP104):c.588G>A (p.Pro196=) rs141751043 0.00173
NM_017946.4(FKBP14):c.330C>T (p.Gly110=) rs148034796 0.00173
NM_018062.4(FANCL):c.963T>A (p.Asp321Glu) rs140088149 0.00173
NM_020754.4(ARHGAP31):c.349-7T>G rs200397968 0.00173
NM_020964.3(EPG5):c.7495A>G (p.Met2499Val) rs191244915 0.00173
NM_020975.6(RET):c.468C>T (p.Ala156=) rs141290380 0.00173
NM_022455.5(NSD1):c.7575C>T (p.Asp2525=) rs148891711 0.00173
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=) rs61754141 0.00173
NM_032340.4(UQCC2):c.225C>A (p.Pro75=) rs114881155 0.00173
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918 0.00172
NM_000135.4(FANCA):c.3198T>C (p.Ala1066=) rs17227071 0.00172
NM_001379286.1(ZNF423):c.1326G>A (p.Ala442=) rs16947743 0.00172
NM_001429.4(EP300):c.5259C>T (p.Cys1753=) rs148040990 0.00172
NM_002471.4(MYH6):c.2928+5G>A rs28730772 0.00172
NM_015335.5(MED13L):c.4593C>T (p.Thr1531=) rs138774472 0.00172
NM_015937.6(PIGT):c.12T>C (p.Ala4=) rs371353348 0.00172
NM_020320.5(RARS2):c.155A>T (p.Lys52Ile) rs73496064 0.00172
NM_020754.4(ARHGAP31):c.1618A>G (p.Lys540Glu) rs61744410 0.00172
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser) rs187864727 0.00172
NM_021926.4(ALX4):c.*1629C>T rs184605209 0.00172
NM_021926.4(ALX4):c.*2845G>A rs182853569 0.00172
NM_139125.4(MASP1):c.64G>A (p.Val22Met) rs77189011 0.00172
NM_207361.6(FREM2):c.4686T>C (p.Asp1562=) rs17058435 0.00172
NM_000044.6(AR):c.636G>A (p.Arg212=) rs150226204 0.00171
NM_000900.5(MGP):c.23C>T (p.Ala8Val) rs142330429 0.00171
NM_005045.4(RELN):c.246C>G (p.Thr82=) rs113242008 0.00171
NM_015450.3(POT1):c.751A>G (p.Met251Val) rs148397357 0.00171
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val) rs183156491 0.00171
NM_021625.5(TRPV4):c.*230G>A rs181542514 0.00171
NM_031483.7(ITCH):c.2154A>G (p.Glu718=) rs143022837 0.00171
NM_153717.3(EVC):c.934G>A (p.Asp312Asn) rs115275195 0.00171
NM_000284.4(PDHA1):c.798A>G (p.Thr266=) rs35752213 0.00170
NM_000302.4(PLOD1):c.1164C>T (p.Thr388=) rs74949176 0.00170
NM_001001433.3(STX16):c.*2293G>A rs185815575 0.00170
NM_001001433.3(STX16):c.*2885C>T rs188362833 0.00170
NM_001083961.2(WDR62):c.2016C>T (p.Asp672=) rs114968951 0.00170
NM_001122681.2(SH3BP2):c.*1679C>T rs549256215 0.00170
NM_001148.6(ANK2):c.8354C>T (p.Ser2785Leu) rs145895389 0.00170
NM_004239.4(TRIP11):c.5056+11C>T rs199549473 0.00170
NM_015443.4(KANSL1):c.1653-10C>G rs199642265 0.00170
NM_080632.3(UPF3B):c.1121G>A (p.Arg374His) rs143538947 0.00170
NM_138959.3(VANGL1):c.*922C>T rs142123586 0.00170
NM_152564.5(VPS13B):c.10052A>T (p.Asn3351Ile) rs111353525 0.00170
NM_173660.5(DOK7):c.921C>T (p.Ala307=) rs138148221 0.00170
NM_181458.4(PAX3):c.873C>T (p.Pro291=) rs141545923 0.00170
NM_000553.6(WRN):c.1717A>G (p.Thr573Ala) rs150148567 0.00169
NM_001042492.3(NF1):c.*582T>G rs532984264 0.00169
NM_004260.4(RECQL4):c.2544C>T (p.Arg848=) rs200114521 0.00169
NM_005359.6(SMAD4):c.*2488T>A rs148190627 0.00169
NM_020458.4(TTC7A):c.2061G>C (p.Glu687Asp) rs147410586 0.00169
NM_025074.7(FRAS1):c.7652A>G (p.Gln2551Arg) rs183712679 0.00169
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_000475.5(NR0B1):c.870C>T (p.Cys290=) rs137987391 0.00168
NM_000719.7(CACNA1C):c.4140+259C>T rs557738769 0.00168
NM_001368809.2(AMPD2):c.1984-15C>G rs368592941 0.00168
NM_001378615.1(CC2D2A):c.2487-11C>G rs374783761 0.00168
NM_001852.4(COL9A2):c.2019G>A (p.Ser673=) rs148008235 0.00168
NM_006015.6(ARID1A):c.135C>T (p.Ala45=) rs892415319 0.00168
NM_015713.5(RRM2B):c.*3078G>T rs113860402 0.00168
NM_000089.4(COL1A2):c.3614G>A (p.Arg1205Gln) rs73428220 0.00167
NM_004239.4(TRIP11):c.5125G>A (p.Ala1709Thr) rs141965887 0.00167
NM_005751.5(AKAP9):c.5428A>G (p.Met1810Val) rs115624293 0.00167
NM_017780.4(CHD7):c.5754T>C (p.Thr1918=) rs61746542 0.00167
NM_022114.4(PRDM16):c.1188T>C (p.Cys396=) rs201309284 0.00167
NM_145691.4(ATPAF2):c.35G>A (p.Gly12Glu) rs149036879 0.00167
NM_000135.4(FANCA):c.3584G>A (p.Arg1195Gln) rs138013482 0.00166
NM_000203.5(IDUA):c.667G>A (p.Asp223Asn) rs183347428 0.00166
NM_000493.4(COL10A1):c.*1106G>A rs141732719 0.00166
NM_000719.7(CACNA1C):c.1113+23C>A rs142826660 0.00166
NM_001330078.2(NRXN1):c.2385C>G (p.Pro795=) rs147984237 0.00166
NM_001365276.2(TNXB):c.7051G>A (p.Gly2351Arg) rs201638755 0.00166
NM_001367624.2(ZNF469):c.751C>A (p.Pro251Thr) rs540655479 0.00166
NM_001379286.1(ZNF423):c.87C>T (p.Ser29=) rs116537749 0.00166
NM_002693.3(POLG):c.1837C>T (p.His613Tyr) rs147407423 0.00166
NM_003106.4(SOX2):c.834C>T (p.Leu278=) rs144530684 0.00166
NM_003242.6(TGFBR2):c.1602G>A (p.Val534=) rs140818646 0.00166
NM_004304.5(ALK):c.3594C>T (p.Leu1198=) rs56071005 0.00166
NM_004456.5(EZH2):c.1852-9A>G rs199654408 0.00166
NM_004656.4(BAP1):c.1268C>A (p.Thr423Lys) rs115109161 0.00166
NM_006888.6(CALM1):c.4-10C>G rs191723671 0.00166
NM_015713.5(RRM2B):c.*817G>A rs190474682 0.00166
NM_024537.4(CARS2):c.1531G>A (p.Ala511Thr) rs147216443 0.00166
NM_030632.3(ASXL3):c.2583A>T (p.Ile861=) rs61734123 0.00166
NM_030973.4(MED25):c.819+14C>T rs188257265 0.00166
NM_000135.4(FANCA):c.1360-10C>G rs150836356 0.00165
NM_000214.3(JAG1):c.2301G>A (p.Thr767=) rs147634857 0.00165
NM_000368.5(TSC1):c.1726T>C (p.Leu576=) rs118203567 0.00165
NM_001347721.2(DYRK1A):c.804G>A (p.Ala268=) rs138086853 0.00165
NM_001852.4(COL9A2):c.250-7T>C rs146943340 0.00165
NM_003073.5(SMARCB1):c.-184G>A rs563943196 0.00165
NM_016955.4(SEPSECS):c.1023A>G (p.Arg341=) rs148209667 0.00165
NM_024809.5(TCTN2):c.360C>G (p.Leu120=) rs142452647 0.00165
NM_147127.5(EVC2):c.2487G>A (p.Glu829=) rs16837501 0.00165
NM_153427.2(PITX2):c.-793C>A rs145044365 0.00165
NM_000093.5(COL5A1):c.4065C>T (p.Pro1355=) rs61737906 0.00164
NM_000141.5(FGFR2):c.*111G>A rs574474794 0.00164
NM_000900.5(MGP):c.*27T>G rs80337043 0.00164
NM_001151.3(SLC25A4):c.-108C>T rs3733651 0.00164
NM_001614.5(ACTG1):c.803-6C>T rs199600452 0.00164
NM_004304.5(ALK):c.2676C>T (p.Ala892=) rs138668699 0.00164
NM_005633.4(SOS1):c.3032A>G (p.Asn1011Ser) rs8192671 0.00164
NM_013352.4(DSE):c.216G>A (p.Thr72=) rs61747210 0.00164
NM_015443.4(KANSL1):c.297A>G (p.Gln99=) rs34801822 0.00164
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp) rs116840776 0.00164
NC_000007.14:g.156791884T>C rs76511713 0.00163
NM_000044.6(AR):c.1174C>T (p.Pro392Ser) rs201934623 0.00163
NM_000057.4(BLM):c.2268A>G (p.Lys756=) rs146013879 0.00163
NM_000135.4(FANCA):c.1471-12A>G rs9282684 0.00163
NM_000493.4(COL10A1):c.*1025C>T rs139574236 0.00163
NM_000719.7(CACNA1C):c.4624-9C>T rs377568567 0.00163
NM_000900.5(MGP):c.*339T>C rs150038879 0.00163
NM_001044385.3(TMEM237):c.348G>A (p.Ala116=) rs191125006 0.00163
NM_001134831.2(AHI1):c.2490G>A (p.Arg830=) rs368942099 0.00163
NM_001203.3(BMPR1B):c.1476C>T (p.Ala492=) rs140430323 0.00163
NM_002181.4(IHH):c.618C>T (p.Ala206=) rs3731879 0.00163
NM_003072.5(SMARCA4):c.3045C>T (p.Gly1015=) rs56101423 0.00163
NM_017866.6(TMEM70):c.*1052G>C rs73335823 0.00163
NM_000071.3(CBS):c.1059G>A (p.Thr353=) rs61735859 0.00162
NM_000093.5(COL5A1):c.-199C>T rs183791719 0.00162
NM_000093.5(COL5A1):c.194G>A (p.Arg65Gln) rs116003670 0.00162
NM_000368.5(TSC1):c.*2733A>G rs73552805 0.00162
NM_000503.6(EYA1):c.321T>C (p.Ala107=) rs112282055 0.00162
NM_001018115.3(FANCD2):c.3560+20C>T rs55804542 0.00162
NM_001083962.2(TCF4):c.1351-19G>A rs200963418 0.00162
NM_001203.3(BMPR1B):c.*1371A>G rs542105565 0.00162
NM_001378964.1(CDON):c.*4000C>T rs79719160 0.00162
NM_002408.4(MGAT2):c.1023T>C (p.Tyr341=) rs111486860 0.00162
NM_003334.4(UBA1):c.2004-13C>T rs201794720 0.00162
NM_003924.4(PHOX2B):c.642C>T (p.Gly214=) rs190973308 0.00162
NM_012293.3(PXDN):c.3190G>A (p.Ala1064Thr) rs202132697 0.00162
NM_022168.4(IFIH1):c.1723A>G (p.Thr575Ala) rs138057665 0.00162
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142 0.00162
NM_147127.5(EVC2):c.1471-6C>T rs115466792 0.00162
NM_001308093.3(GATA4):c.1140C>T (p.Ser380=) rs34393445 0.00161
NM_003995.4(NPR2):c.2434T>C (p.Leu812=) rs115119353 0.00161
NM_014391.3(ANKRD1):c.208-16C>T rs79793575 0.00161
NM_020779.4(WDR35):c.3279G>C (p.Gln1093His) rs148436608 0.00161
NM_024537.4(CARS2):c.1318-12G>A rs191969046 0.00161
NM_032273.4(TMEM126A):c.191G>A (p.Arg64His) rs11556797 0.00161
NM_000088.4(COL1A1):c.1668+16C>T rs41316659 0.00160
NM_000108.5(DLD):c.338-18T>A rs184851386 0.00160
NM_000528.4(MAN2B1):c.2283C>T (p.Pro761=) rs138358081 0.00160
NM_001042492.3(NF1):c.*1481A>G rs150702919 0.00160
NM_001203.3(BMPR1B):c.*1203A>G rs577303456 0.00160
NM_001931.5(DLAT):c.570A>G (p.Gln190=) rs143107853 0.00160
NM_002334.4(LRP4):c.*1627A>G rs544836196 0.00160
NM_012082.4(ZFPM2):c.739+19G>A rs140283741 0.00160
NM_017780.4(CHD7):c.5757C>G (p.Ala1919=) rs79203206 0.00160
NM_018109.4(MTPAP):c.157+20C>T rs191816760 0.00160
NM_022114.4(PRDM16):c.2452G>A (p.Gly818Ser) rs201904226 0.00160
NM_022369.4(STRA6):c.1026C>T (p.Ile342=) rs79382990 0.00160
NM_000089.4(COL1A2):c.2078G>A (p.Arg693Gln) rs34147460 0.00159
NM_000093.5(COL5A1):c.3259-8C>T rs146461106 0.00159
NM_000141.5(FGFR2):c.*1301C>T rs71640261 0.00159
NM_000466.3(PEX1):c.1588-20A>G rs201298666 0.00159
NM_001368809.2(AMPD2):c.1587C>A (p.Thr529=) rs35337955 0.00159
NM_001374828.1(ARID1B):c.3714+11G>A rs368322992 0.00159
NM_002272.4(KRT4):c.*68C>T rs149040467 0.00159
NM_003722.5(TP63):c.*2123C>T rs36064124 0.00159
NM_004260.4(RECQL4):c.615C>G (p.Pro205=) rs35639991 0.00159
NM_022114.4(PRDM16):c.1684G>A (p.Val562Ile) rs150395260 0.00159
NM_000090.4(COL3A1):c.3613A>G (p.Ile1205Val) rs2271683 0.00158
NM_000218.3(KCNQ1):c.435C>T (p.Ile145=) rs1800170 0.00158
NM_000314.8(PTEN):c.1104T>C (p.Asp368=) rs35979531 0.00158
NM_000368.5(TSC1):c.*2874G>A rs111832812 0.00158
NM_000719.7(CACNA1C):c.372-305T>C rs2239132 0.00158
NM_001122681.2(SH3BP2):c.*162G>A rs61791176 0.00158
NM_001367624.2(ZNF469):c.8076G>A (p.Pro2692=) rs149200506 0.00158
NM_001429.4(EP300):c.678C>G (p.Gly226=) rs147244947 0.00158
NM_001999.4(FBN2):c.2940C>T (p.Cys980=) rs143255082 0.00158
NM_001999.4(FBN2):c.5448A>G (p.Pro1816=) rs138022198 0.00158
NM_002470.4(MYH3):c.3078C>T (p.Ser1026=) rs146309217 0.00158
NM_003072.5(SMARCA4):c.3663G>A (p.Lys1221=) rs61761957 0.00158
NM_004004.6(GJB2):c.*1016A>G rs537683957 0.00158
NM_004260.4(RECQL4):c.3394-11T>C rs370677156 0.00158
NM_005751.5(AKAP9):c.11273G>A (p.Arg3758His) rs141856443 0.00158
NM_006015.6(ARID1A):c.1351-82C>T rs41303627 0.00158
NM_025136.4(OPA3):c.537A>G (p.Lys179=) rs140105522 0.00158
NM_000143.4(FH):c.1236+14C>T rs149241949 0.00157
NM_000466.3(PEX1):c.130-9T>C rs377337949 0.00157
NM_001040436.3(YARS2):c.456G>A (p.Ala152=) rs201940521 0.00157
NM_002485.5(NBN):c.1398-19C>T rs201495716 0.00157
NM_002693.3(POLG):c.2426+27G>A rs72762657 0.00157
NM_003000.3(SDHB):c.300T>C (p.Ser100=) rs11541235 0.00157
NM_005445.4(SMC3):c.*297T>A rs188322637 0.00157
NM_007373.4(SHOC2):c.*1775T>C rs535776105 0.00157
NM_015443.4(KANSL1):c.1826G>A (p.Ser609Asn) rs138698439 0.00157
NM_033337.3(CAV3):c.336C>T (p.Ile112=) rs139985460 0.00157
NM_153490.3(KRT13):c.1276G>A (p.Val426Ile) rs144967807 0.00157
NM_000203.5(IDUA):c.493+10C>T rs200000194 0.00156
NM_000238.4(KCNH2):c.1129-18C>T rs78794789 0.00156
NM_000553.6(WRN):c.355+4G>C rs145764920 0.00156
NM_001106.4(ACVR2B):c.*15T>C rs45457192 0.00156
NM_001148.6(ANK2):c.3255G>T (p.Ala1085=) rs56173868 0.00156
NM_002470.4(MYH3):c.252G>A (p.Lys84=) rs147410236 0.00156
NM_004560.4(ROR2):c.1589G>A (p.Arg530Gln) rs35852786 0.00156
NM_005045.4(RELN):c.8275-19T>C rs149567032 0.00156
NM_005732.4(RAD50):c.2091C>T (p.Val697=) rs61747588 0.00156
NM_006567.5(FARS2):c.183C>T (p.Asp61=) rs73718082 0.00156
NM_013275.6(ANKRD11):c.5738C>A (p.Thr1913Asn) rs142373563 0.00156
NM_014846.4(WASHC5):c.1818C>T (p.Pro606=) rs140063111 0.00156
NM_015272.5(RPGRIP1L):c.2153-4G>C rs201380599 0.00156
NM_015338.6(ASXL1):c.3384C>T (p.Asp1128=) rs149359320 0.00156
NM_015443.4(KANSL1):c.607G>C (p.Gly203Arg) rs138175526 0.00156
NM_017617.5(NOTCH1):c.263G>A (p.Ser88Asn) rs191357265 0.00156
NM_017780.4(CHD7):c.2067G>A (p.Thr689=) rs34979623 0.00156
NM_018062.4(FANCL):c.817T>C (p.Leu273=) rs61753272 0.00156
NM_018127.7(ELAC2):c.1865A>T (p.Glu622Val) rs119484087 0.00156
NM_020964.3(EPG5):c.780A>G (p.Leu260=) rs186213665 0.00156
NM_025136.4(OPA3):c.*2008C>T rs144432336 0.00156
NM_025136.4(OPA3):c.*3360G>A rs545764728 0.00156
NM_153603.4(COG7):c.1971C>T (p.His657=) rs114458562 0.00156
NM_000027.4(AGA):c.303A>T (p.Ala101=) rs142449515 0.00155
NM_000136.3(FANCC):c.-29A>C rs4647414 0.00155
NM_000368.5(TSC1):c.1701G>A (p.Ala567=) rs35478675 0.00155
NM_000466.3(PEX1):c.1011G>A (p.Lys337=) rs142018583 0.00155
NM_000557.5(GDF5):c.-134C>G rs144924248 0.00155
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=) rs145762491 0.00155
NM_001122681.2(SH3BP2):c.*4832T>G rs145350139 0.00155
NM_001330078.2(NRXN1):c.1575A>G (p.Arg525=) rs201941844 0.00155
NM_003738.5(PTCH2):c.3363A>G (p.Ile1121Met) rs11573598 0.00155
NM_003849.4(SUCLG1):c.900C>T (p.Ala300=) rs113840224 0.00155
NM_004004.6(GJB2):c.*3C>A rs111033460 0.00155
NM_004208.4(AIFM1):c.274G>A (p.Glu92Lys) rs149319206 0.00155
NM_006767.4(LZTR1):c.1530C>T (p.His510=) rs190714197 0.00155
NM_013275.6(ANKRD11):c.6725C>T (p.Ala2242Val) rs372632879 0.00155
NM_030578.4(B9D2):c.183C>T (p.Ile61=) rs140901774 0.00155
NM_000136.3(FANCC):c.840G>A (p.Ser280=) rs34671520 0.00154
NM_001005498.4(RHBDF2):c.681G>A (p.Ser227=) rs33995520 0.00154
NM_001367561.1(DOCK7):c.2700C>T (p.Ser900=) rs35648144 0.00154
NM_001379286.1(ZNF423):c.3336G>A (p.Val1112=) rs61739947 0.00154
NM_004525.3(LRP2):c.9147C>T (p.Phe3049=) rs146115458 0.00154
NM_005585.5(SMAD6):c.1359C>T (p.Asp453=) rs368834798 0.00154
NM_006393.3(NEBL):c.267C>G (p.Tyr89Ter) rs147622517 0.00154
NM_013275.6(ANKRD11):c.6746G>A (p.Arg2249His) rs201043388 0.00154
NM_138959.3(VANGL1):c.323A>G (p.Lys108Arg) rs141673853 0.00154
NM_001083962.2(TCF4):c.*3404G>C rs550785276 0.00153
NM_001203.3(BMPR1B):c.*1899A>G rs372385843 0.00153
NM_001271938.2(MEGF8):c.7731C>T (p.Tyr2577=) rs3745237 0.00153
NM_002641.4(PIGA):c.1420G>A (p.Gly474Arg) rs61760986 0.00153
NM_003072.5(SMARCA4):c.258C>T (p.Asp86=) rs115992445 0.00153
NM_006941.4(SOX10):c.822C>T (p.Gly274=) rs147334218 0.00153
NM_017780.4(CHD7):c.712G>A (p.Val238Met) rs200898742 0.00153
NM_021926.4(ALX4):c.*1048C>T rs532888348 0.00153
NM_022114.4(PRDM16):c.201G>A (p.Pro67=) rs199614349 0.00153
NM_022458.4(LMBR1):c.*1357A>G rs568810522 0.00153
NM_023110.3(FGFR1):c.336C>T (p.Thr112=) rs148480919 0.00153
NM_032043.3(BRIP1):c.2061G>C (p.Val687=) rs112414873 0.00153
NM_138959.3(VANGL1):c.*383C>G rs75277108 0.00153
NM_173660.5(DOK7):c.532+18G>A rs200487431 0.00153
NM_000141.5(FGFR2):c.454+14C>T rs112142377 0.00152
NM_000233.4(LHCGR):c.*22T>G rs192235905 0.00152
NM_001999.4(FBN2):c.953-8T>G rs201818403 0.00152
NM_002470.4(MYH3):c.5390G>A (p.Arg1797His) rs138194008 0.00152
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282 0.00152
NM_003738.5(PTCH2):c.1425G>A (p.Ala475=) rs35851686 0.00152
NM_013275.6(ANKRD11):c.6323G>A (p.Gly2108Asp) rs201509886 0.00152
NM_013275.6(ANKRD11):c.6827C>T (p.Pro2276Leu) rs573355746 0.00152
NM_017780.4(CHD7):c.7278G>A (p.Gln2426=) rs187311127 0.00152
NM_024665.7(TBL1XR1):c.1123-14T>G rs117037344 0.00152
NM_198525.3(KIF7):c.2718+19C>T rs200126841 0.00152
NM_001040436.3(YARS2):c.104C>A (p.Ala35Asp) rs149447502 0.00151
NM_001378964.1(CDON):c.*2573G>A rs115327518 0.00151
NM_002010.3(FGF9):c.327C>T (p.Gly109=) rs34748315 0.00151
NM_198859.4(PRICKLE2):c.1035C>G (p.Gly345=) rs34084584 0.00151
NC_000007.14:g.156769398G>C rs76709606 0.00150
NM_000088.4(COL1A1):c.*378C>G rs148131473 0.00150
NM_000168.6(GLI3):c.2635G>A (p.Ala879Thr) rs137939155 0.00150
NM_000218.3(KCNQ1):c.478-8C>T rs150711844 0.00150
NM_001101.5(ACTB):c.168C>T (p.Asp56=) rs13447398 0.00150
NM_001113378.2(FANCI):c.3865A>G (p.Ile1289Val) rs114549781 0.00150
NM_001354604.2(MITF):c.*3033A>G rs139770177 0.00150
NM_001365951.3(KIF1B):c.4596C>T (p.Pro1532=) rs147066476 0.00150
NM_001429.4(EP300):c.4311A>C (p.Ala1437=) rs150941761 0.00150
NM_004525.3(LRP2):c.9914G>A (p.Arg3305His) rs3213760 0.00150
NM_005921.2(MAP3K1):c.234C>T (p.Leu78=) rs542526689 0.00150
NM_013275.6(ANKRD11):c.5088C>G (p.Asp1696Glu) rs146205997 0.00150
NM_024757.5(EHMT1):c.354T>G (p.Ser118=) rs142271310 0.00150
NM_153603.4(COG7):c.2283C>T (p.Thr761=) rs144814374 0.00150
NM_153717.3(EVC):c.1333A>C (p.Lys445Gln) rs116952023 0.00150
NM_194318.4(B3GLCT):c.1329+6G>T rs200460848 0.00150
NM_198525.3(KIF7):c.3514C>A (p.Arg1172=) rs138196132 0.00150
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528 0.00149
NM_001368809.2(AMPD2):c.1276-20A>G rs140464475 0.00149
NM_001371623.1(TCOF1):c.2088T>G (p.Ser696Arg) rs140334121 0.00149
NM_005921.2(MAP3K1):c.233T>C (p.Leu78Pro) rs572205361 0.00149
NM_006031.6(PCNT):c.4354G>A (p.Gly1452Arg) rs143796569 0.00149
NM_006859.4(LIAS):c.393+8C>A rs201574806 0.00149
NM_012414.4(RAB3GAP2):c.39C>T (p.Asp13=) rs145667920 0.00149
NM_025136.4(OPA3):c.*5565C>T rs145816878 0.00149
NM_147127.5(EVC2):c.2394G>A (p.Arg798=) rs147173201 0.00149
NM_147127.5(EVC2):c.2395G>C (p.Asp799His) rs143491078 0.00149
NM_000112.4(SLC26A2):c.*600G>T rs143723255 0.00148
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=) rs363847 0.00148
NM_000147.5(FUCA1):c.389+14C>T rs553138426 0.00148
NM_000199.5(SGSH):c.752G>C (p.Gly251Ala) rs144461610 0.00148
NM_000280.4(PAX6):c.*1436G>A rs138035131 0.00148
NM_000393.5(COL5A2):c.1618-19C>G rs189970491 0.00148
NM_000553.6(WRN):c.1149G>T (p.Leu383Phe) rs4987238 0.00148
NM_001083961.2(WDR62):c.3033G>A (p.Pro1011=) rs118175551 0.00148
NM_001104631.2(PDE4D):c.*5304C>T rs142429682 0.00148
NM_001151.4(SLC25A4):c.*173_*174del rs112970805 0.00148
NM_001308093.3(GATA4):c.735C>T (p.Tyr245=) rs146696080 0.00148
NM_001379200.1(TBX1):c.955G>A (p.Gly319Ser) rs41298838 0.00148
NM_002386.4(MC1R):c.531G>A (p.Thr177=) rs145781072 0.00148
NM_002386.4(MC1R):c.819C>T (p.Cys273=) rs375813196 0.00148
NM_004239.4(TRIP11):c.5298G>T (p.Lys1766Asn) rs145868557 0.00148
NM_005751.5(AKAP9):c.10197T>C (p.Thr3399=) rs143627839 0.00148
NM_005751.5(AKAP9):c.11300C>T (p.Ser3767Leu) rs149979685 0.00148
NM_005921.2(MAP3K1):c.762C>T (p.Gly254=) rs199726815 0.00148
NM_006121.4(KRT1):c.113G>A (p.Arg38His) rs34787940 0.00148
NM_016169.4(SUFU):c.528C>T (p.His176=) rs150569584 0.00148
NM_017617.5(NOTCH1):c.1122C>T (p.Asp374=) rs192683347 0.00148
NM_017946.4(FKBP14):c.375G>C (p.Leu125=) rs143268242 0.00148
NM_022458.4(LMBR1):c.*2926G>C rs148658727 0.00148
NM_032444.4(SLX4):c.3109T>C (p.Leu1037=) rs58735123 0.00148
NM_170665.4(ATP2A2):c.1167T>C (p.Tyr389=) rs115016152 0.00148
NM_001001433.3(STX16):c.132+15G>A rs139859128 0.00147
NM_001113378.2(FANCI):c.2817G>T (p.Lys939Asn) rs145192583 0.00147
NM_001134831.2(AHI1):c.72T>C (p.Ser24=) rs73777558 0.00147
NM_002734.5(PRKAR1A):c.*2844A>C rs144560276 0.00147
NM_017617.5(NOTCH1):c.4056C>T (p.Cys1352=) rs200099319 0.00147
NM_020937.4(FANCM):c.1041G>A (p.Pro347=) rs140998495 0.00147
NM_133433.4(NIPBL):c.294C>T (p.Ala98=) rs142184978 0.00147
NM_152383.5(DIS3L2):c.1570G>A (p.Glu524Lys) rs201308521 0.00147
NM_213720.3(CHCHD10):c.41+7G>A rs141526972 0.00147
NM_000088.4(COL1A1):c.1057-20T>C rs73338527 0.00146
NM_000090.4(COL3A1):c.2056C>G (p.Pro686Ala) rs41263775 0.00146
NM_000218.3(KCNQ1):c.1032+11C>T rs201144841 0.00146
NM_001626.6(AKT2):c.831+18C>T rs200438281 0.00146
NM_002010.3(FGF9):c.-414C>T rs187418449 0.00146
NM_002465.4(MYBPC1):c.*19+3A>G rs2303628 0.00146
NM_002693.3(POLG):c.1890C>T (p.Asn630=) rs148658588 0.00146
NM_005184.4(CALM3):c.267G>A (p.Ala89=) rs115265989 0.00146
NM_005732.4(RAD50):c.379G>A (p.Val127Ile) rs28903086 0.00146
NM_005751.5(AKAP9):c.1536C>T (p.Leu512=) rs61757665 0.00146
NM_015272.5(RPGRIP1L):c.640G>A (p.Val214Ile) rs139067427 0.00146
NM_020436.5(SALL4):c.2376T>C (p.Asn792=) rs143601538 0.00146
NM_020436.5(SALL4):c.529G>A (p.Ala177Thr) rs145275500 0.00146
NM_024757.5(EHMT1):c.148G>A (p.Ala50Thr) rs78104547 0.00146
NM_024757.5(EHMT1):c.2040G>A (p.Ser680=) rs150451099 0.00146
NM_147127.5(EVC2):c.3411C>T (p.Ala1137=) rs144532809 0.00146
NM_000138.5(FBN1):c.-176A>T rs560004254 0.00145
NM_000208.4(INSR):c.2682+9C>G rs41398545 0.00145
NM_000404.4(GLB1):c.1032T>C (p.Thr344=) rs199927127 0.00145
NM_000891.3(KCNJ2):c.*732T>G rs150985434 0.00145
NM_001101.5(ACTB):c.420A>G (p.Leu140=) rs13447405 0.00145
NM_001271938.2(MEGF8):c.6641+9G>A rs112519292 0.00145
NM_001330078.2(NRXN1):c.501C>G (p.Leu167=) rs200248561 0.00145
NM_001365999.1(SZT2):c.9723G>A (p.Ala3241=) rs146635122 0.00145
NM_001367624.2(ZNF469):c.3504C>T (p.Ser1168=) rs533300920 0.00145
NM_002386.3(MC1R):c.-1251C>T rs536447537 0.00145
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_002617.4(PEX10):c.495C>T (p.Phe165=) rs150344828 0.00145
NM_003924.4(PHOX2B):c.288C>G (p.Arg96=) rs201892150 0.00145
NM_004239.4(TRIP11):c.-61C>T rs78222479 0.00145
NM_007059.4(KPTN):c.600-6C>T rs114452119 0.00145
NM_017617.5(NOTCH1):c.52G>A (p.Ala18Thr) rs754613772 0.00145
NM_021252.5(RAB18):c.*3967T>C rs571495776 0.00145
NM_022455.5(NSD1):c.760C>T (p.Leu254Phe) rs149334244 0.00145
NM_153704.6(TMEM67):c.186T>C (p.Cys62=) rs115660279 0.00145
NM_181486.4(TBX5):c.*524A>T rs76799455 0.00145
NM_001077418.3(TMEM231):c.804C>T (p.Phe268=) rs149118721 0.00144
NM_001308093.3(GATA4):c.1040C>T (p.Ala347Val) rs115372595 0.00144
NM_004304.5(ALK):c.2915-9T>C rs373765395 0.00144
NM_006364.4(SEC23A):c.1900-10T>C rs189849576 0.00144
NM_017780.4(CHD7):c.1419G>C (p.Gly473=) rs186394299 0.00144
NM_022114.4(PRDM16):c.3102C>T (p.Asn1034=) rs199853370 0.00144
NM_152564.5(VPS13B):c.2760A>G (p.Leu920=) rs138661755 0.00144
NM_000047.3(ARSL):c.1408G>C (p.Asp470His) rs61743737 0.00143
NM_001122630.2(CDKN1C):c.636C>T (p.Ser212=) rs540923047 0.00143
NM_003070.5(SMARCA2):c.4761G>A (p.Thr1587=) rs146702999 0.00143
NM_004004.6(GJB2):c.380G>A (p.Arg127His) rs111033196 0.00143
NM_004380.3(CREBBP):c.4133+19T>C rs202204380 0.00143
NM_006757.4(TNNT3):c.480+10G>T rs188255267 0.00143
NM_013275.6(ANKRD11):c.3578C>T (p.Ala1193Val) rs61744864 0.00143
NM_020247.5(COQ8A):c.*230G>A rs117808661 0.00143
NM_024809.5(TCTN2):c.615C>T (p.Gly205=) rs147485641 0.00143
NM_031483.7(ITCH):c.2271C>T (p.Ile757=) rs56366303 0.00143
NM_032634.4(PIGO):c.2166G>C (p.Ala722=) rs147101825 0.00143
NM_181486.4(TBX5):c.804C>G (p.Ala268=) rs35110399 0.00143
NM_198859.4(PRICKLE2):c.788-6T>C rs180903875 0.00143
NM_000316.3(PTH1R):c.-37G>A rs201663714 0.00142
NM_000501.4(ELN):c.1861G>A (p.Ala621Thr) rs150404125 0.00142
NM_001429.4(EP300):c.6210G>A (p.Val2070=) rs11912899 0.00142
NM_013275.6(ANKRD11):c.3660G>A (p.Arg1220=) rs150015583 0.00142
NM_014704.4(CEP104):c.1340C>T (p.Thr447Met) rs138897239 0.00142
NM_025074.7(FRAS1):c.789+12T>G rs142206350 0.00142
NM_000044.6(AR):c.2180G>T (p.Arg727Leu) rs137852593 0.00141
NM_000183.3(HADHB):c.64+11T>C rs57709136 0.00141
NM_000478.6(ALPL):c.859T>C (p.Leu287=) rs141742288 0.00141
NM_001371986.1(UNC80):c.1818G>A (p.Pro606=) rs61742726 0.00141
NM_002541.4(OGDH):c.1206+19C>A rs202133522 0.00141
NM_002968.3(SALL1):c.3942C>T (p.Phe1314=) rs189411650 0.00141
NM_005431.2(XRCC2):c.40-16T>C rs41274991 0.00141
NM_005465.7(AKT3):c.1359T>C (p.Asp453=) rs142844303 0.00141
NM_005921.2(MAP3K1):c.15G>A (p.Ala5=) rs759046760 0.00141
NM_015335.5(MED13L):c.1904G>A (p.Ser635Asn) rs144457722 0.00141
NM_020247.5(COQ8A):c.1914C>T (p.Ser638=) rs56043893 0.00141
NM_023110.3(FGFR1):c.*1498C>T rs17182484 0.00141
NM_032444.4(SLX4):c.4024A>G (p.Ser1342Gly) rs140051968 0.00141
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229 0.00140
NM_000089.4(COL1A2):c.1350+11A>T rs193922160 0.00140
NM_000466.3(PEX1):c.1797A>G (p.Gly599=) rs76986636 0.00140
NM_000512.5(GALNS):c.1462G>A (p.Val488Met) rs78127134 0.00140
NM_000719.7(CACNA1C):c.5918G>A (p.Arg1973Gln) rs112414325 0.00140
NM_000891.3(KCNJ2):c.*210A>T rs146282466 0.00140
NM_000891.3(KCNJ2):c.-314T>C rs566186294 0.00140
NM_001365951.3(KIF1B):c.*3690C>A rs540616562 0.00140
NM_002968.3(SALL1):c.264C>T (p.Ser88=) rs143501736 0.00140
NM_005045.4(RELN):c.3477C>A (p.Asn1159Lys) rs114684479 0.00140
NM_006129.5(BMP1):c.1443+12G>C rs181328614 0.00140
NM_006329.4(FBLN5):c.*648G>A rs182435130 0.00140
NM_013275.6(ANKRD11):c.5198C>T (p.Ala1733Val) rs148243995 0.00140
NM_013275.6(ANKRD11):c.6868C>T (p.Pro2290Ser) rs374668457 0.00140
NM_018026.4(PACS1):c.535-4G>A rs112192900 0.00140
NM_020247.5(COQ8A):c.238C>T (p.His80Tyr) rs76249490 0.00140
NM_022356.4(P3H1):c.33A>G (p.Thr11=) rs144378478 0.00140
NM_181523.3(PIK3R1):c.687G>A (p.Ser229=) rs34175949 0.00140
NM_000036.3(AMPD1):c.1224+7C>T rs191152112 0.00139
NM_000314.8(PTEN):c.-9C>G rs11202592 0.00139
NM_000528.4(MAN2B1):c.1822G>A (p.Glu608Lys) rs145062583 0.00139
NM_001083962.2(TCF4):c.*22G>A rs182372608 0.00139
NM_001106.4(ACVR2B):c.*8026C>T rs139304868 0.00139
NM_001128159.3(VPS53):c.2062A>G (p.Ile688Val) rs140376049 0.00139
NM_001378964.1(CDON):c.2279G>A (p.Arg760Gln) rs150587299 0.00139
NM_004304.5(ALK):c.1817+11T>C rs185559774 0.00139
NM_004629.2(FANCG):c.646+12A>G rs17878604 0.00139
NM_016169.4(SUFU):c.910+14C>T rs202247757 0.00139
NM_017617.5(NOTCH1):c.2207+16G>A rs200956009 0.00139
NM_001148.6(ANK2):c.7902G>A (p.Val2634=) rs150878494 0.00138
NM_001429.4(EP300):c.1878+9C>G rs186198699 0.00138
NM_003072.5(SMARCA4):c.859+7T>A rs141461778 0.00138
NM_003923.3(FOXH1):c.-54C>T rs187197849 0.00138
NM_004560.4(ROR2):c.*927C>T rs150568265 0.00138
NM_004629.2(FANCG):c.20C>T (p.Ser7Phe) rs35984312 0.00138
NM_005592.4(MUSK):c.79+11G>A rs139516442 0.00138
NM_006147.4(IRF6):c.*279T>C rs191645857 0.00138
NM_020975.6(RET):c.654G>A (p.Pro218=) rs137928436 0.00138
NM_022552.5(DNMT3A):c.1170C>T (p.Ser390=) rs150182473 0.00138
NM_145068.4(TRPV3):c.*3255G>A rs117019701 0.00138
NM_152419.3(HGSNAT):c.1250C>T (p.Thr417Ile) rs200750044 0.00138
NM_000044.6(AR):c.2395C>G (p.Gln799Glu) rs137852591 0.00137
NM_000071.3(CBS):c.1359-14C>T rs115185587 0.00137
NM_000088.4(COL1A1):c.2236-17C>G rs193922146 0.00137
NM_000135.4(FANCA):c.2977C>A (p.Gln993Lys) rs140823801 0.00137
NM_000489.6(ATRX):c.3541G>C (p.Val1181Leu) rs61758732 0.00137
NM_001083962.2(TCF4):c.-87G>A rs533414588 0.00137
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser) rs145259927 0.00137
NM_001999.4(FBN2):c.2555-7A>G rs28763949 0.00137
NM_002470.4(MYH3):c.3479C>T (p.Thr1160Met) rs145080512 0.00137
NM_005188.4(CBL):c.2190G>C (p.Thr730=) rs143840974 0.00137
NM_005751.5(AKAP9):c.80C>T (p.Ser27Leu) rs142401936 0.00137
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_013275.6(ANKRD11):c.1851C>T (p.Gly617=) rs144309427 0.00137
NM_013275.6(ANKRD11):c.7839C>G (p.Ala2613=) rs143287644 0.00137
NM_015338.6(ASXL1):c.1429G>C (p.Glu477Gln) rs141346625 0.00137
NM_022114.4(PRDM16):c.3687T>C (p.Ala1229=) rs188634763 0.00137
NM_000147.5(FUCA1):c.648C>T (p.Tyr216=) rs80358198 0.00136
NM_001084.5(PLOD3):c.1986G>A (p.Pro662=) rs117761436 0.00136
NM_001347721.2(DYRK1A):c.925-19A>G rs78428152 0.00136
NM_005751.5(AKAP9):c.6921A>G (p.Gln2307=) rs141156177 0.00136
NM_017866.6(TMEM70):c.534T>C (p.Thr178=) rs139864454 0.00136
NM_020458.4(TTC7A):c.1348G>A (p.Val450Met) rs114276698 0.00136
NM_000325.6(PITX2):c.819G>A (p.Pro273=) rs148191851 0.00135
NM_000368.5(TSC1):c.*2142T>C rs112314368 0.00135
NM_001042545.2(LTBP4):c.2909C>G (p.Pro970Arg) rs200667255 0.00135
NM_001082486.2(ACD):c.80G>A (p.Arg27Gln) rs142507451 0.00135
NM_001106.4(ACVR2B):c.*133A>T rs186832239 0.00135
NM_001198800.3(ASCC1):c.869A>G (p.Asn290Ser) rs146370051 0.00135
NM_001330078.2(NRXN1):c.222C>T (p.Gly74=) rs201592993 0.00135
NM_001371623.1(TCOF1):c.1671T>C (p.Asp557=) rs142758482 0.00135
NM_001371623.1(TCOF1):c.2151T>A (p.Ser717=) rs141764046 0.00135
NM_001429.4(EP300):c.5061+10G>A rs78432056 0.00135
NM_001626.6(AKT2):c.288-18dup rs371077077 0.00135
NM_001953.5(TYMP):c.242G>A (p.Arg81Gln) rs143789597 0.00135
NM_001999.4(FBN2):c.4595-11G>C rs199640787 0.00135
NM_003244.4(TGIF1):c.123C>T (p.Asn41=) rs138292737 0.00135
NM_005445.4(SMC3):c.2934G>A (p.Lys978=) rs147463420 0.00135
NM_005529.7(HSPG2):c.12874G>A (p.Glu4292Lys) rs141280063 0.00135
NM_005996.4(TBX3):c.1095T>C (p.His365=) rs14175 0.00135
NM_006494.4(ERF):c.24G>A (p.Gly8=) rs200969503 0.00135
NM_014244.5(ADAMTS2):c.1512G>A (p.Thr504=) rs141369064 0.00135
NM_021830.5(TWNK):c.639C>T (p.Gly213=) rs11542130 0.00135
NM_021926.4(ALX4):c.*1088G>A rs149094042 0.00135
NM_152564.5(VPS13B):c.2651-15A>C rs370251406 0.00135
NM_000088.4(COL1A1):c.1873G>A (p.Ala625Thr) rs149561221 0.00134
NM_000141.5(FGFR2):c.939+11T>C rs145303463 0.00134
NM_000218.3(KCNQ1):c.459G>A (p.Thr153=) rs148121889 0.00134
NM_000238.4(KCNH2):c.3111C>T (p.Asp1037=) rs200799870 0.00134
NM_000493.4(COL10A1):c.*315A>T rs566937288 0.00134
NM_000553.6(WRN):c.2950T>A (p.Leu984Ile) rs146443310 0.00134
NM_000719.7(CACNA1C):c.1482-264C>T rs144865478 0.00134
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300 0.00134
NM_001365999.1(SZT2):c.7395T>C (p.Ile2465=) rs78858677 0.00134
NM_001999.4(FBN2):c.8364+7A>T rs185052980 0.00134
NM_002272.4(KRT4):c.1258C>T (p.Arg420Cys) rs192699667 0.00134
NM_002860.4(ALDH18A1):c.1329C>T (p.Ile443=) rs117709404 0.00134
NM_006329.4(FBLN5):c.714T>A (p.Leu238=) rs141152607 0.00134
NM_012186.3(FOXE3):c.276C>T (p.Leu92=) rs143712915 0.00134
NM_017617.5(NOTCH1):c.3511-10G>A rs139838537 0.00134
NM_018714.3(COG1):c.2304A>G (p.Thr768=) rs147598221 0.00134
NM_030632.3(ASXL3):c.2965C>G (p.Arg989Gly) rs190659120 0.00134
NM_058195.4(CDKN2A):c.194-3652G>C rs531597737 0.00134
NM_000218.3(KCNQ1):c.*305A>C rs45570140 0.00133
NM_000393.5(COL5A2):c.2011C>T (p.Pro671Ser) rs139189200 0.00133
NM_000428.3(LTBP2):c.4286G>A (p.Arg1429Gln) rs116914994 0.00133
NM_000553.6(WRN):c.144A>G (p.Glu48=) rs145959045 0.00133
NM_001148.6(ANK2):c.6906C>T (p.Thr2302=) rs139910215 0.00133
NM_001148.6(ANK2):c.8658A>G (p.Leu2886=) rs149433267 0.00133
NM_001151.4(SLC25A4):c.*1985T>C rs3733654 0.00133
NM_001276345.2(TNNT2):c.68-5C>T rs540630390 0.00133
NM_001365951.3(KIF1B):c.*4958G>A rs150497684 0.00133
NM_001370259.2(MEN1):c.*185C>T rs111895237 0.00133
NM_001999.4(FBN2):c.5675-12_5675-11insG rs150372632 0.00133
NM_002449.5(MSX2):c.*1050T>C rs184931219 0.00133
NM_002857.4(PEX19):c.*1471A>T rs2301299 0.00133
NM_002857.4(PEX19):c.346+14A>G rs77156017 0.00133
NM_005027.4(PIK3R2):c.1416+11C>T rs140187437 0.00133
NM_005732.4(RAD50):c.3165-4A>T rs104895050 0.00133
NM_006494.4(ERF):c.1192G>A (p.Gly398Ser) rs111793182 0.00133
NM_006623.4(PHGDH):c.510+6A>G rs371736796 0.00133
NM_006796.3(AFG3L2):c.-32C>T rs556432963 0.00133
NM_017617.5(NOTCH1):c.865+18C>T rs55677618 0.00133
NM_020964.3(EPG5):c.4541C>T (p.Pro1514Leu) rs139209033 0.00133
NM_020964.3(EPG5):c.5229C>T (p.Phe1743=) rs76331338 0.00133
NM_022455.5(NSD1):c.2835T>C (p.Ser945=) rs145987330 0.00133
NM_025114.4(CEP290):c.3654T>C (p.Leu1218=) rs201838492 0.00133
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) rs150550701 0.00133
NM_145068.4(TRPV3):c.*2783G>A rs182187548 0.00133
NM_000528.4(MAN2B1):c.2260G>A (p.Glu754Lys) rs141212446 0.00132
NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr) rs142614369 0.00132
NM_001282531.3(ADNP):c.2931A>G (p.Gly977=) rs144684998 0.00132
NM_001371623.1(TCOF1):c.534C>T (p.Ser178=) rs141250614 0.00132
NM_005445.4(SMC3):c.2329T>C (p.Leu777=) rs76625999 0.00132
NM_133259.4(LRPPRC):c.64C>G (p.Leu22Val) rs181626399 0.00132
NM_000027.4(AGA):c.10A>C (p.Lys4Gln) rs149092606 0.00131
NM_000553.6(WRN):c.2937T>G (p.Ile979Met) rs147802438 0.00131
NM_000719.7(CACNA1C):c.3780C>A (p.Gly1260=) rs201258230 0.00131
NM_001104631.2(PDE4D):c.*2510C>T rs576580458 0.00131
NM_001113378.2(FANCI):c.3660T>C (p.Ser1220=) rs116380142 0.00131
NM_001291867.2(NHS):c.2593G>A (p.Ala865Thr) rs149609550 0.00131
NM_001382391.1(CSPP1):c.3493C>T (p.Pro1165Ser) rs200161440 0.00131
NM_002272.4(KRT4):c.1080G>A (p.Arg360=) rs113928381 0.00131
NM_003611.3(OFD1):c.1654+14T>A rs192720874 0.00131
NM_005529.7(HSPG2):c.204C>A (p.Asp68Glu) rs1869780 0.00131
NM_013275.6(ANKRD11):c.890C>T (p.Thr297Met) rs140998225 0.00131
NM_022114.4(PRDM16):c.1426C>T (p.Pro476Ser) rs188908415 0.00131
NM_194318.4(B3GLCT):c.1064+10C>T rs143013995 0.00131
NM_000141.5(FGFR2):c.-61G>T rs3135721 0.00130
NM_000314.8(PTEN):c.79+35C>T rs190707033 0.00130
NM_000393.5(COL5A2):c.33C>T (p.Leu11=) rs140108893 0.00130
NM_000493.4(COL10A1):c.*317T>A rs553227989 0.00130
NM_000891.3(KCNJ2):c.*766C>T rs186842823 0.00130
NM_000925.4(PDHB):c.198A>G (p.Ala66=) rs138621975 0.00130
NM_003036.4(SKI):c.1338C>T (p.Leu446=) rs148632347 0.00130
NM_030632.3(ASXL3):c.3465G>A (p.Ser1155=) rs116554010 0.00130
NM_133459.4(CCBE1):c.*4846G>A rs141622451 0.00130
NM_145068.4(TRPV3):c.958A>G (p.Met320Val) rs142326624 0.00130
NM_152383.5(DIS3L2):c.*255C>T rs143054885 0.00130
NM_000093.5(COL5A1):c.1539C>T (p.Pro513=) rs151173863 0.00129
NM_000489.6(ATRX):c.4239A>G (p.Glu1413=) rs141974120 0.00129
NM_001371623.1(TCOF1):c.1300C>T (p.Pro434Ser) rs143519179 0.00129
NM_002693.3(POLG):c.1585+11T>C rs201566815 0.00129
NM_002860.4(ALDH18A1):c.*227A>G rs943341 0.00129
NM_004004.6(GJB2):c.608T>C (p.Ile203Thr) rs76838169 0.00129
NM_004260.4(RECQL4):c.716C>T (p.Ala239Val) rs146709578 0.00129
NM_006306.4(SMC1A):c.1545+4A>C rs377270943 0.00129
NM_012200.4(B3GAT3):c.909+263del rs753764477 0.00129
NM_015560.2(OPA1):c.-172T>A rs146295726 0.00129
NM_020529.3(NFKBIA):c.*18G>C rs9333352 0.00129
NM_147127.5(EVC2):c.1823G>A (p.Arg608His) rs145693546 0.00129
NC_000007.14:g.156779581C>T rs112621739 0.00128
NM_000138.5(FBN1):c.3463+3A>G rs80344206 0.00128
NM_000264.5(PTCH1):c.3692T>C (p.Val1231Ala) rs182045135 0.00128
NM_001001433.3(STX16):c.-534C>G rs190719996 0.00128
NM_001042545.2(LTBP4):c.858G>A (p.Gly286=) rs146234365 0.00128
NM_001148.6(ANK2):c.11718G>A (p.Arg3906=) rs35724152 0.00128
NM_001329943.3(KIAA0586):c.4125A>G (p.Gln1375=) rs148016417 0.00128
NM_001371986.1(UNC80):c.5127C>T (p.Asn1709=) rs61744394 0.00128
NM_001614.5(ACTG1):c.18C>T (p.Ala6=) rs145211830 0.00128
NM_002693.3(POLG):c.2735-7C>G rs200372494 0.00128
NM_003072.5(SMARCA4):c.1419+9C>T rs374635008 0.00128
NM_004415.4(DSP):c.*39T>C rs145079869 0.00128
NM_004614.5(TK2):c.157-12G>A rs117229729 0.00128
NM_005592.4(MUSK):c.486+7G>C rs187497836 0.00128
NM_005633.4(SOS1):c.213+16T>C rs150536159 0.00128
NM_006567.5(FARS2):c.606G>A (p.Lys202=) rs17851782 0.00128
NM_007373.4(SHOC2):c.*1483G>A rs180979375 0.00128
NM_014846.4(WASHC5):c.2485C>T (p.Leu829=) rs80242901 0.00128
NM_015338.6(ASXL1):c.252+11T>C rs143337375 0.00128
NM_019892.6(INPP5E):c.1875G>A (p.Glu625=) rs148539728 0.00128
NM_025136.4(OPA3):c.*3884G>A rs187028696 0.00128
NM_025215.6(PUS1):c.545-7C>T rs201541270 0.00128
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=) rs117587497 0.00128
NM_138959.3(VANGL1):c.523C>T (p.Arg175Trp) rs142594314 0.00128
NM_153704.6(TMEM67):c.2241G>A (p.Gln747=) rs115563233 0.00128
NM_000088.4(COL1A1):c.642+11T>C rs376087528 0.00127
NM_000314.8(PTEN):c.*1620T>C rs568474293 0.00127
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524 0.00127
NM_002334.4(LRP4):c.4674C>T (p.His1558=) rs61742905 0.00127
NM_003482.4(KMT2D):c.2156C>T (p.Pro719Leu) rs185660524 0.00127
NM_005982.4(SIX1):c.-184A>C rs187402923 0.00127
NM_014846.4(WASHC5):c.655G>A (p.Glu219Lys) rs143719918 0.00127
NM_015338.6(ASXL1):c.3029C>T (p.Thr1010Met) rs116112525 0.00127
NM_030632.3(ASXL3):c.3389C>G (p.Pro1130Arg) rs185753602 0.00127
NM_000095.3(COMP):c.*15A>G rs201937857 0.00126
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259 0.00126
NM_000147.5(FUCA1):c.433T>C (p.Trp145Arg) rs150062050 0.00126
NM_000218.3(KCNQ1):c.447C>T (p.Ala149=) rs146436765 0.00126
NM_000262.3(NAGA):c.1209C>T (p.Ile403=) rs201582948 0.00126
NM_000287.4(PEX6):c.1480-5C>T rs376473597 0.00126
NM_001203.3(BMPR1B):c.*860T>C rs188311185 0.00126
NM_001394062.1(MACF1):c.17566-6A>T rs374768437 0.00126
NM_002541.4(OGDH):c.935+15G>A rs139263859 0.00126
NM_006121.4(KRT1):c.1669A>G (p.Ser557Gly) rs77846840 0.00126
NM_006121.4(KRT1):c.982A>T (p.Thr328Ser) rs139428176 0.00126
NM_007059.4(KPTN):c.710-19A>C rs113130930 0.00126
NM_015335.5(MED13L):c.2056A>C (p.Lys686Gln) rs139048741 0.00126
NM_015338.6(ASXL1):c.3739C>T (p.Arg1247Cys) rs146747814 0.00126
NM_017780.4(CHD7):c.3522+13T>A rs199581494 0.00126
NM_021830.5(TWNK):c.1697A>G (p.Lys566Arg) rs116046810 0.00126
NM_022336.4(EDAR):c.1143C>T (p.Phe381=) rs143639120 0.00126
NM_022836.4(DCLRE1B):c.1528A>T (p.Asn510Tyr) rs35397235 0.00126
NM_152564.5(VPS13B):c.10824C>T (p.His3608=) rs114818249 0.00126
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292 0.00125
NM_000346.4(SOX9):c.858C>A (p.Ile286=) rs149355998 0.00125
NM_000393.5(COL5A2):c.3039+15C>T rs114619770 0.00125
NM_000719.7(CACNA1C):c.1895+85G>A rs189312629 0.00125
NM_001365999.1(SZT2):c.3267C>T (p.Val1089=) rs147008168 0.00125
NM_001371623.1(TCOF1):c.1278+14G>A rs375809363 0.00125
NM_001371623.1(TCOF1):c.378+16T>C rs184898865 0.00125
NM_001382391.1(CSPP1):c.1245+15C>T rs200874913 0.00125
NM_002408.4(MGAT2):c.360G>A (p.Leu120=) rs148802016 0.00125
NM_003098.3(SNTA1):c.993C>T (p.Arg331=) rs143309917 0.00125
NM_003334.4(UBA1):c.480+19C>G rs200340536 0.00125
NM_005592.4(MUSK):c.1361-12T>C rs115337040 0.00125
NM_019892.6(INPP5E):c.120C>T (p.Pro40=) rs377154166 0.00125
NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys) rs140600202 0.00125
NM_052989.3(IFT122):c.3462G>A (p.Leu1154=) rs150692598 0.00125
NM_145068.4(TRPV3):c.1698G>A (p.Thr566=) rs113716355 0.00125
NM_145861.4(EDARADD):c.120+7G>A rs149429886 0.00125
NM_000027.4(AGA):c.*882A>C rs3749479 0.00124
NM_000093.5(COL5A1):c.1077G>A (p.Glu359=) rs201166370 0.00124
NM_000093.5(COL5A1):c.193C>T (p.Arg65Trp) rs139468527 0.00124
NM_000284.4(PDHA1):c.999A>C (p.Glu333Asp) rs2228067 0.00124
NM_000466.3(PEX1):c.3426C>T (p.Thr1142=) rs143220470 0.00124
NM_000503.6(EYA1):c.744G>A (p.Thr248=) rs10098224 0.00124
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln) rs35625434 0.00124
NM_001042492.3(NF1):c.1846-12A>T rs188510882 0.00124
NM_001042492.3(NF1):c.4577+11C>G rs190614908 0.00124
NM_001113378.2(FANCI):c.3925-14C>G rs148365638 0.00124
NM_001114753.3(ENG):c.732C>T (p.Pro244=) rs112262663 0.00124
NM_001143979.2(NDE1):c.-545A>G rs77774475 0.00124
NM_001148.6(ANK2):c.7059A>G (p.Gln2353=) rs145782226 0.00124
NM_001271938.2(MEGF8):c.4504-14G>A rs111624233 0.00124
NM_001367561.1(DOCK7):c.2859+20T>C rs567794345 0.00124
NM_001374353.1(GLI2):c.1243G>A (p.Val415Met) rs142296407 0.00124
NM_002541.4(OGDH):c.357C>T (p.Asn119=) rs116191385 0.00124
NM_003482.4(KMT2D):c.9726C>T (p.Ala3242=) rs183688784 0.00124
NM_004380.3(CREBBP):c.5436C>G (p.Thr1812=) rs61731405 0.00124
NM_005445.4(SMC3):c.1671-6A>G rs200848781 0.00124
NM_007103.4(NDUFV1):c.*79C>T rs76839099 0.00124
NM_013275.6(ANKRD11):c.6020C>T (p.Pro2007Leu) rs200531141 0.00124
NM_014141.6(CNTNAP2):c.3247+16C>T rs370512570 0.00124
NM_014918.5(CHSY1):c.975C>T (p.Ser325=) rs142783588 0.00124
NM_018055.5(NODAL):c.216C>T (p.Asn72=) rs138195571 0.00124
NM_020436.5(SALL4):c.1557C>T (p.Pro519=) rs75554760 0.00124
NM_020779.4(WDR35):c.1755C>T (p.Val585=) rs146130105 0.00124
NM_153603.4(COG7):c.1137+11A>C rs74012174 0.00124
NM_000044.6(AR):c.1937C>A (p.Ala646Asp) rs1800053 0.00123
NM_000095.3(COMP):c.-9G>T rs186562511 0.00123
NM_000168.6(GLI3):c.1671C>T (p.Tyr557=) rs143948870 0.00123
NM_001024630.4(RUNX2):c.*801G>A rs143518330 0.00123
NM_001042492.3(NF1):c.1810T>C (p.Leu604=) rs142712751 0.00123
NM_001122681.2(SH3BP2):c.937G>A (p.Gly313Arg) rs141518457 0.00123
NM_001378615.1(CC2D2A):c.2813T>C (p.Met938Thr) rs61740537 0.00123
NM_001386795.1(DTNA):c.604-14G>T rs397517447 0.00123
NM_002755.4(MAP2K1):c.648C>T (p.Ile216=) rs148968935 0.00123
NM_004208.4(AIFM1):c.948C>A (p.Ala316=) rs148184613 0.00123
NM_005045.4(RELN):c.3123C>T (p.Gly1041=) rs41276148 0.00123
NM_005445.4(SMC3):c.*329C>T rs182524436 0.00123
NM_014141.6(CNTNAP2):c.-49T>G rs549396215 0.00123
NM_015338.6(ASXL1):c.2222A>T (p.Asp741Val) rs149971443 0.00123
NM_020458.4(TTC7A):c.189C>G (p.Asp63Glu) rs112301354 0.00123
NM_021926.4(ALX4):c.*782A>G rs373562733 0.00123
NM_022552.5(DNMT3A):c.2688A>G (p.Pro896=) rs181757577 0.00123
NM_030973.4(MED25):c.1675-7C>T rs79635160 0.00123
NM_004260.4(RECQL4):c.3594G>A (p.Leu1198=) rs146398243 0.00122
NM_015559.3(SETBP1):c.3237T>C (p.Leu1079=) rs150875847 0.00122
NM_022114.4(PRDM16):c.3110-13C>T rs150372316 0.00122
NM_000027.4(AGA):c.675T>C (p.Asn225=) rs138699617 0.00121
NM_000214.3(JAG1):c.909T>C (p.His303=) rs139574260 0.00121
NM_000493.4(COL10A1):c.154+13G>C rs187987567 0.00121
NM_000493.4(COL10A1):c.382G>A (p.Asp128Asn) rs142463796 0.00121
NM_001005498.4(RHBDF2):c.2064+7A>G rs201734337 0.00121
NM_002272.4(KRT4):c.306C>T (p.Pro102=) rs373594963 0.00121
NM_002547.3(OPHN1):c.832+16G>A rs199794620 0.00121
NM_003098.3(SNTA1):c.984C>T (p.Pro328=) rs138863915 0.00121
NM_004208.4(AIFM1):c.1329C>T (p.Tyr443=) rs143792929 0.00121
NM_004278.4(PIGL):c.526+10G>A rs138410893 0.00121
NM_004387.4(NKX2-5):c.335-162G>A rs200039950 0.00121
NM_004456.5(EZH2):c.1240+9C>A rs114320893 0.00121
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe) rs2227988 0.00121
NM_005343.4(HRAS):c.357C>T (p.Asp119=) rs111352454 0.00121
NM_013275.6(ANKRD11):c.6745C>T (p.Arg2249Cys) rs202081612 0.00121
NM_014423.4(AFF4):c.1530C>T (p.Gly510=) rs139523666 0.00121
NM_020436.5(SALL4):c.1950C>T (p.Gly650=) rs149008635 0.00121
NM_020779.4(WDR35):c.*2623T>C rs538967974 0.00121
NM_021625.5(TRPV4):c.2248G>A (p.Val750Ile) rs148171058 0.00121
NM_021830.5(TWNK):c.1735-14C>A rs201795189 0.00121
NM_152383.5(DIS3L2):c.878C>A (p.Pro293His) rs187563594 0.00121
NM_153717.3(EVC):c.89C>T (p.Pro30Leu) rs886044558 0.00121
NM_198525.3(KIF7):c.3738C>G (p.Pro1246=) rs144929293 0.00121
NM_000082.4(ERCC8):c.1080T>C (p.Ala360=) rs4647130 0.00120
NM_000089.4(COL1A2):c.1383C>T (p.Pro461=) rs139726213 0.00120
NM_000202.8(IDS):c.825C>T (p.Asp275=) rs148038243 0.00120
NM_000280.4(PAX6):c.*5108A>G rs146579778 0.00120
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn) rs139229616 0.00120
NM_000719.7(CACNA1C):c.724C>T (p.Leu242=) rs200800133 0.00120
NM_001083962.2(TCF4):c.*3491C>T rs185402957 0.00120
NM_001104631.2(PDE4D):c.*2336T>G rs548172452 0.00120
NM_001110219.3(GJB6):c.358G>A (p.Asp120Asn) rs193292569 0.00120
NM_001374353.1(GLI2):c.1662C>T (p.Cys554=) rs143055766 0.00120
NM_001378615.1(CC2D2A):c.351T>G (p.Ser117Arg) rs186264635 0.00120
NM_001386795.1(DTNA):c.1000G>A (p.Val334Met) rs148123045 0.00120
NM_001999.4(FBN2):c.255-18C>A rs200300875 0.00120
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=) rs28763920 0.00120
NM_004544.4(NDUFA10):c.*2202C>T rs77614498 0.00120
NM_014780.4(CUL7):c.-300G>C rs80311039 0.00120
NM_016035.5(COQ4):c.48G>C (p.Pro16=) rs375750495 0.00120
NM_018486.3(HDAC8):c.57C>T (p.Ile19=) rs145362166 0.00120
NM_018668.5(VPS33B):c.357G>A (p.Lys119=) rs146758743 0.00120
NM_020436.5(SALL4):c.1353C>T (p.Ala451=) rs140110863 0.00120
NM_198859.4(PRICKLE2):c.457G>A (p.Val153Ile) rs139747674 0.00120
NM_000168.6(GLI3):c.*1464A>G rs566417596 0.00119
NM_000393.5(COL5A2):c.3316C>T (p.Arg1106Trp) rs146789395 0.00119
NM_001370259.2(MEN1):c.1296G>A (p.Leu432=) rs138770431 0.00119
NM_003052.5(SLC34A1):c.-11G>C rs368569333 0.00119
NM_004260.4(RECQL4):c.3443C>T (p.Ser1148Phe) rs35346077 0.00119
NM_004525.3(LRP2):c.9033-9A>G rs143892351 0.00119
NM_004544.4(NDUFA10):c.*2495C>T rs78395168 0.00119
NM_015335.5(MED13L):c.5365-13G>A rs187309577 0.00119
NM_020533.3(MCOLN1):c.1000A>G (p.Met334Val) rs141240937 0.00119
NM_020964.3(EPG5):c.6226-18T>G rs114958790 0.00119
NM_000162.5(GCK):c.364-18A>G rs191255582 0.00118
NM_000168.6(GLI3):c.1813-15T>C rs201019815 0.00118
NM_000214.3(JAG1):c.1120+10A>G rs201711717 0.00118
NM_000393.5(COL5A2):c.1035G>C (p.Gly345=) rs148786600 0.00118
NM_000393.5(COL5A2):c.1301C>T (p.Thr434Met) rs145850743 0.00118
NM_000475.5(NR0B1):c.16C>A (p.His6Asn) rs191365011 0.00118
NM_000512.5(GALNS):c.566+5T>C rs3743545 0.00118
NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter) rs11574410 0.00118
NM_001365951.3(KIF1B):c.3259+9A>G rs149566646 0.00118
NM_002386.3(MC1R):c.-1234C>T rs530536156 0.00118
NM_002968.3(SALL1):c.3794G>A (p.Gly1265Glu) rs149302006 0.00118
NM_003923.2(FOXH1):c.-307G>A rs145418332 0.00118
NM_004064.5(CDKN1B):c.-126C>T rs549943001 0.00118
NM_005751.5(AKAP9):c.3624T>C (p.Ser1208=) rs142610139 0.00118
NM_015272.5(RPGRIP1L):c.482G>A (p.Arg161His) rs74957591 0.00118
NM_020751.3(COG6):c.1308T>G (p.Leu436=) rs61754105 0.00118
NM_021926.4(ALX4):c.*1121C>T rs146483327 0.00118
NM_000052.7(ATP7A):c.1768A>G (p.Arg590Gly) rs146887876 0.00117
NM_000202.8(IDS):c.126C>T (p.Ile42=) rs146963087 0.00117
NM_001104631.2(PDE4D):c.*1637C>T rs190993206 0.00117
NM_001114753.3(ENG):c.179C>A (p.Ala60Asp) rs146100407 0.00117
NM_001114753.3(ENG):c.180C>A (p.Ala60=) rs146188464 0.00117
NM_001122681.2(SH3BP2):c.*372G>A rs556644429 0.00117
NM_001368894.2(PAX6):c.-107C>T rs111270711 0.00117
NM_001999.4(FBN2):c.1592G>C (p.Gly531Ala) rs34450503 0.00117
NM_002693.3(POLG):c.1949+20G>C rs371964664 0.00117
NM_004168.4(SDHA):c.1368G>A (p.Ser456=) rs149875171 0.00117
NM_004380.3(CREBBP):c.3831C>T (p.Pro1277=) rs141869477 0.00117
NM_006218.4(PIK3CA):c.2181A>T (p.Thr727=) rs116336243 0.00117
NM_017777.4(MKS1):c.261+7C>T rs200156751 0.00117
NM_018668.5(VPS33B):c.-7C>G rs2289617 0.00117
NM_019892.6(INPP5E):c.1550-14C>T rs181576122 0.00117
NM_020458.4(TTC7A):c.1129C>G (p.Gln377Glu) rs117304542 0.00117
NM_020529.3(NFKBIA):c.*263G>T rs11569620 0.00117
NM_152564.5(VPS13B):c.7708G>A (p.Asp2570Asn) rs140179844 0.00117
NM_153490.3(KRT13):c.*274T>C rs141918873 0.00117
NM_176787.5(PIGN):c.2238A>G (p.Ile746Met) rs200658159 0.00117
NM_000044.6(AR):c.1960G>A (p.Glu654Lys) rs200737258 0.00116
NM_000093.5(COL5A1):c.4788G>C (p.Gly1596=) rs138436047 0.00116
NM_000135.4(FANCA):c.115A>C (p.Arg39=) rs17232091 0.00116
NM_000147.5(FUCA1):c.1127G>A (p.Arg376Gln) rs145603001 0.00116
NM_000233.4(LHCGR):c.1360G>A (p.Val454Ile) rs114320052 0.00116
NM_001114753.3(ENG):c.524-12G>A rs142841129 0.00116
NM_003321.5(TUFM):c.520-8A>T rs145900455 0.00116
NM_004260.4(RECQL4):c.1398G>A (p.Pro466=) rs145615931 0.00116
NM_004380.3(CREBBP):c.1574-12C>T rs185243405 0.00116
NM_004380.3(CREBBP):c.4350C>T (p.Tyr1450=) rs144832179 0.00116
NM_006918.5(SC5D):c.544A>G (p.Ile182Val) rs144180704 0.00116
NM_015335.5(MED13L):c.6225+20C>T rs146803417 0.00116
NM_016169.4(SUFU):c.600C>T (p.Ile200=) rs149513330 0.00116
NM_017617.5(NOTCH1):c.2970-20G>A rs367927174 0.00116
NM_020779.4(WDR35):c.*2622A>G rs558837510 0.00116
NM_130837.3(OPA1):c.239A>G (p.Tyr80Cys) rs151103940 0.00116
NM_139125.4(MASP1):c.863G>A (p.Arg288Gln) rs116001173 0.00116
NM_152564.5(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109 0.00116
NM_194318.4(B3GLCT):c.39G>C (p.Pro13=) rs753313963 0.00116
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886 0.00115
NM_000202.8(IDS):c.123C>G (p.Leu41=) rs146904022 0.00115
NM_000335.5(SCN5A):c.1967C>T (p.Pro656Leu) rs41313681 0.00115
NM_001104631.2(PDE4D):c.*4622G>T rs532407753 0.00115
NM_001106.4(ACVR2B):c.*2005C>T rs573846950 0.00115
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_001203.3(BMPR1B):c.*126G>A rs569581364 0.00115
NM_001203.3(BMPR1B):c.586-18T>G rs80218727 0.00115
NM_001999.4(FBN2):c.4791C>T (p.Ile1597=) rs147040906 0.00115
NM_002386.4(MC1R):c.-374G>A rs555058897 0.00115
NM_003052.5(SLC34A1):c.260-14C>T rs78851308 0.00115
NM_003073.5(SMARCB1):c.444C>T (p.Ser148=) rs138184483 0.00115
NM_004387.4(NKX2-5):c.237G>C (p.Pro79=) rs72554029 0.00115
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile) rs56014374 0.00115
NM_005184.4(CALM3):c.178+18C>T rs180722019 0.00115
NM_006031.6(PCNT):c.6957T>G (p.Phe2319Leu) rs61735813 0.00115
NM_012293.3(PXDN):c.648G>A (p.Ala216=) rs183196973 0.00115
NM_022458.4(LMBR1):c.*1359G>A rs565001458 0.00115
NM_023110.3(FGFR1):c.449-9C>G rs17182303 0.00115
NM_032444.4(SLX4):c.590T>C (p.Val197Ala) rs147826749 0.00115
NM_001114753.3(ENG):c.524-15C>T rs201463582 0.00114
NM_001371623.1(TCOF1):c.3623T>A (p.Met1208Lys) rs139081024 0.00114
NM_001379200.1(TBX1):c.954C>T (p.Pro318=) rs201607803 0.00114
NM_002485.5(NBN):c.1317A>G (p.Ile439Met) rs28538230 0.00114
NM_003738.5(PTCH2):c.1593G>A (p.Ala531=) rs11573585 0.00114
NM_004453.4(ETFDH):c.1590A>G (p.Glu530=) rs143015234 0.00114
NM_005045.4(RELN):c.3424T>A (p.Ser1142Thr) rs145484343 0.00114
NM_012293.3(PXDN):c.4341C>T (p.Phe1447=) rs147851300 0.00114
NM_014704.4(CEP104):c.2736C>T (p.Gly912=) rs148360595 0.00114
NM_015335.5(MED13L):c.3330T>C (p.Tyr1110=) rs139711748 0.00114
NM_032444.4(SLX4):c.3676C>T (p.Arg1226Trp) rs142008398 0.00114
NM_000089.4(COL1A2):c.582T>G (p.Ala194=) rs144540908 0.00113
NM_000199.5(SGSH):c.1002C>T (p.Ala334=) rs145596938 0.00113
NM_000719.7(CACNA1C):c.1074G>A (p.Gln358=) rs139842134 0.00113
NM_001044385.3(TMEM237):c.*564T>C rs141560423 0.00113
NM_001110219.3(GJB6):c.15G>A (p.Thr5=) rs150075979 0.00113
NM_001365999.1(SZT2):c.2955C>T (p.Cys985=) rs151189395 0.00113
NM_001367624.2(ZNF469):c.2653C>G (p.Leu885Val) rs139653501 0.00113
NM_002397.5(MEF2C):c.811-13C>T rs201988423 0.00113
NM_003413.4(ZIC3):c.607G>A (p.Ala203Thr) rs140823819 0.00113
NM_003849.4(SUCLG1):c.309T>C (p.Thr103=) rs142284503 0.00113
NM_004380.3(CREBBP):c.5719G>A (p.Ala1907Thr) rs199990883 0.00113
NM_005633.4(SOS1):c.*3592C>T rs550315455 0.00113
NM_005751.5(AKAP9):c.6249C>T (p.Phe2083=) rs139770404 0.00113
NM_015335.5(MED13L):c.4467C>T (p.Ser1489=) rs141892892 0.00113
NM_015338.6(ASXL1):c.4189G>A (p.Gly1397Ser) rs146464648 0.00113
NM_016204.4(GDF2):c.352A>T (p.Ile118Phe) rs144456901 0.00113
NM_020754.4(ARHGAP31):c.936T>C (p.Arg312=) rs200813566 0.00113
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys) rs116998555 0.00113
NM_030777.4(SLC2A10):c.630C>T (p.Gly210=) rs142431229 0.00113
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_152383.5(DIS3L2):c.*77G>T rs77517611 0.00113
NM_152564.5(VPS13B):c.4224+549C>T rs182492131 0.00113
NM_173660.5(DOK7):c.831C>T (p.Ala277=) rs150549589 0.00113
NM_198859.4(PRICKLE2):c.438G>A (p.Ala146=) rs149786687 0.00113
NM_000093.5(COL5A1):c.3204+3G>A rs202054108 0.00112
NM_001365999.1(SZT2):c.8136C>T (p.Pro2712=) rs2275098 0.00112
NM_001429.4(EP300):c.5147G>C (p.Ser1716Thr) rs147676363 0.00112
NM_001453.3(FOXC1):c.207G>T (p.Pro69=) rs35974174 0.00112
NM_002860.4(ALDH18A1):c.1308G>A (p.Leu436=) rs144816455 0.00112
NM_002880.4(RAF1):c.*110T>C rs550188508 0.00112
NM_003072.5(SMARCA4):c.*327T>C rs146968124 0.00112
NM_004456.5(EZH2):c.1505+12A>G rs192767078 0.00112
NM_006015.6(ARID1A):c.5336A>G (p.Glu1779Gly) rs140946580 0.00112
NM_020975.6(RET):c.*1130A>G rs572936041 0.00112
NM_022114.4(PRDM16):c.2130G>A (p.Gly710=) rs193118666 0.00112
NM_032444.4(SLX4):c.4479G>A (p.Ser1493=) rs150097733 0.00112
NM_058216.3(RAD51C):c.837+13T>C rs188613030 0.00112
NM_001044385.3(TMEM237):c.1065C>G (p.Leu355=) rs149240122 0.00111
NM_001330677.2(TBX15):c.861+14C>G rs192074581 0.00111
NM_001370259.2(MEN1):c.30G>T (p.Leu10=) rs371192390 0.00111
NM_001371623.1(TCOF1):c.3168G>A (p.Glu1056=) rs78239421 0.00111
NM_001384732.1(CPLANE1):c.8374-15G>A rs74881219 0.00111
NM_001429.4(EP300):c.1686A>C (p.Pro562=) rs144993798 0.00111
NM_002465.4(MYBPC1):c.1250G>A (p.Arg417Lys) rs138048478 0.00111
NM_005751.5(AKAP9):c.10767G>A (p.Leu3589=) rs56198613 0.00111
NM_013275.6(ANKRD11):c.6730G>A (p.Val2244Ile) rs200852197 0.00111
NM_014918.5(CHSY1):c.534A>G (p.Gly178=) rs3743192 0.00111
NM_015139.3(SLC35D1):c.672A>C (p.Ala224=) rs138369664 0.00111
NM_022168.4(IFIH1):c.1046A>G (p.Lys349Arg) rs72650664 0.00111
NM_130468.4(CHST14):c.210C>T (p.Pro70=) rs191997027 0.00111
NM_182760.4(SUMF1):c.*398C>T rs116909525 0.00111
NM_000112.4(SLC26A2):c.468C>T (p.Thr156=) rs111788154 0.00110
NM_000135.4(FANCA):c.80-13C>T rs189841793 0.00110
NM_000284.4(PDHA1):c.*1345A>G rs193253848 0.00110
NM_000393.5(COL5A2):c.*436A>G rs149313073 0.00110
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln) rs201255083 0.00110
NM_001999.4(FBN2):c.5353+10C>T rs113589974 0.00110
NM_003070.5(SMARCA2):c.2349-3T>C rs371183012 0.00110
NM_017617.5(NOTCH1):c.1511G>A (p.Arg504His) rs201768800 0.00110
NM_018062.4(FANCL):c.402T>C (p.Ser134=) rs145284589 0.00110
NM_020436.5(SALL4):c.2166A>G (p.Leu722=) rs141708963 0.00110
NM_138295.5(PKD1L1):c.3624A>G (p.Ala1208=) rs139854035 0.00110
NM_145861.4(EDARADD):c.161-13T>C rs184596437 0.00110
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=) rs363824 0.00109
NM_000214.3(JAG1):c.2778C>T (p.Phe926=) rs147793030 0.00109
NM_000501.4(ELN):c.1821G>C (p.Gly607=) rs144835575 0.00109
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373 0.00109
NM_001159773.2(CANT1):c.*1056T>C rs77565945 0.00109
NM_001330078.2(NRXN1):c.3045C>T (p.Ala1015=) rs56402642 0.00109
NM_003052.5(SLC34A1):c.260-4C>A rs200580283 0.00109
NM_004208.4(AIFM1):c.606-15C>T rs191297808 0.00109
NM_004525.3(LRP2):c.391A>G (p.Arg131Gly) rs34592807 0.00109
NM_015631.6(TCTN3):c.1591-5C>T rs181107730 0.00109
NM_015713.5(RRM2B):c.*11G>A rs29000285 0.00109
NM_019066.5(MAGEL2):c.385A>G (p.Met129Val) rs188762916 0.00109
NM_130837.3(OPA1):c.2880A>G (p.Arg960=) rs144898877 0.00109
NM_178161.3(PTF1A):c.386C>T (p.Ala129Val) rs370163562 0.00109
NM_213599.3(ANO5):c.2521-7C>T rs201438159 0.00109
NM_000393.5(COL5A2):c.261G>A (p.Thr87=) rs142044596 0.00108
NM_000553.6(WRN):c.1350+3A>G rs182813211 0.00108
NM_001134831.2(AHI1):c.2492+14A>G rs182161546 0.00108
NM_001351132.2(PEX5):c.471C>T (p.Ala157=) rs144331955 0.00108
NM_001374828.1(ARID1B):c.2654C>T (p.Ser885Leu) rs150140314 0.00108
NM_002334.4(LRP4):c.430+15C>T rs199835230 0.00108
NM_003070.5(SMARCA2):c.1122C>G (p.Thr374=) rs138404604 0.00108
NM_003482.4(KMT2D):c.4401C>T (p.Gly1467=) rs192659833 0.00108
NM_003738.5(PTCH2):c.2013C>T (p.Phe671=) rs112563011 0.00108
NM_004393.6(DAG1):c.607A>T (p.Thr203Ser) rs200094365 0.00108
NM_004525.3(LRP2):c.5395-12C>G rs141206999 0.00108
NM_004560.4(ROR2):c.1583G>A (p.Arg528Gln) rs142215888 0.00108
NM_005027.4(PIK3R2):c.1953G>A (p.Gln651=) rs112859649 0.00108
NM_005585.5(SMAD6):c.909G>A (p.Thr303=) rs139719094 0.00108
NM_005592.4(MUSK):c.1941C>T (p.Val647=) rs200312379 0.00108
NM_005633.4(SOS1):c.*3367G>A rs145904123 0.00108
NM_005996.4(TBX3):c.171G>A (p.Pro57=) rs201388921 0.00108
NM_014244.5(ADAMTS2):c.220G>A (p.Val74Met) rs2271211 0.00108
NM_014846.4(WASHC5):c.1346G>A (p.Arg449Gln) rs202165114 0.00108
NM_015311.3(OBSL1):c.96G>A (p.Lys32=) rs200451309 0.00108
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=) rs188357478 0.00108
NM_018475.5(TMEM165):c.921T>G (p.Val307=) rs149833286 0.00108
NM_020774.4(MIB1):c.1963-6G>A rs186680702 0.00108
NM_020975.6(RET):c.1197G>A (p.Pro399=) rs148371113 0.00108
NM_021625.5(TRPV4):c.1308C>T (p.Ile436=) rs141244183 0.00108
NM_022455.5(NSD1):c.339C>T (p.Cys113=) rs77093936 0.00108
NM_198525.3(KIF7):c.2718+20G>A rs183149392 0.00108
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730 0.00107
NM_000141.5(FGFR2):c.23T>G (p.Ile8Ser) rs147307031 0.00107
NM_001010867.4(IBA57):c.645C>T (p.Asp215=) rs61743941 0.00107
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly) rs139848756 0.00107
NM_001282531.3(ADNP):c.2943G>T (p.Val981=) rs143103063 0.00107
NM_001367561.1(DOCK7):c.4668G>A (p.Arg1556=) rs115353638 0.00107
NM_001374828.1(ARID1B):c.963C>T (p.Ala321=) rs533517668 0.00107
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln) rs184394424 0.00107
NM_001614.5(ACTG1):c.72C>T (p.Asp24=) rs139517777 0.00107
NM_002181.3(IHH):c.*785C>T rs566164413 0.00107
NM_003482.4(KMT2D):c.1938C>G (p.Pro646=) rs147212187 0.00107
NM_004565.3(PEX14):c.36+8G>A rs200154696 0.00107
NM_006121.4(KRT1):c.*91T>C rs560913567 0.00107
NM_014704.4(CEP104):c.2124A>G (p.Ala708=) rs139817583 0.00107
NM_015443.4(KANSL1):c.1116A>G (p.Lys372=) rs62639965 0.00107
NM_025114.4(CEP290):c.1716A>G (p.Leu572=) rs372349042 0.00107
NC_000007.14:g.156796272T>C rs149671193 0.00106
NM_000046.5(ARSB):c.456G>T (p.Arg152=) rs140747158 0.00106
NM_000046.5(ARSB):c.903C>T (p.Asn301=) rs147495977 0.00106
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=) rs61736827 0.00106
NM_000093.5(COL5A1):c.924+13C>T rs199836060 0.00106
NM_000138.5(FBN1):c.*2045G>A rs372254135 0.00106
NM_000478.6(ALPL):c.818C>T (p.Thr273Met) rs148405563 0.00106
NM_001367624.2(ZNF469):c.10656G>A (p.Pro3552=) rs191234581 0.00106
NM_001399.5(EDA):c.458G>A (p.Arg153His) rs140642493 0.00106
NM_001614.5(ACTG1):c.1029C>T (p.Gly343=) rs143659814 0.00106
NM_001614.5(ACTG1):c.531T>C (p.Arg177=) rs143851458 0.00106
NM_001999.4(FBN2):c.4100-9G>T rs377002313 0.00106
NM_001999.4(FBN2):c.4949-18C>G rs372234336 0.00106
NM_002618.4(PEX13):c.1044T>C (p.Val348=) rs151304822 0.00106
NM_003098.3(SNTA1):c.1488C>A (p.Ala496=) rs34901081 0.00106
NM_003482.4(KMT2D):c.1797G>A (p.Leu599=) rs113282510 0.00106
NM_006015.6(ARID1A):c.4869G>A (p.Ser1623=) rs148936933 0.00106
NM_012200.4(B3GAT3):c.709G>A (p.Val237Met) rs140378202 0.00106
NM_014704.4(CEP104):c.2255+10G>A rs140847871 0.00106
NM_015450.3(POT1):c.828G>A (p.Arg276=) rs76496261 0.00106
NM_020533.3(MCOLN1):c.1359+11C>A rs193053180 0.00106
NM_025114.4(CEP290):c.4476A>G (p.Glu1492=) rs181248369 0.00106
NM_030957.4(ADAMTS10):c.1901-11G>A rs117220199 0.00106
NM_139125.4(MASP1):c.501C>G (p.Ser167=) rs16861801 0.00106
NM_145068.4(TRPV3):c.*2485G>A rs146338415 0.00106
NM_000071.3(CBS):c.1643G>A (p.Arg548Gln) rs150828989 0.00105
NM_000199.5(SGSH):c.390C>T (p.Thr130=) rs111761143 0.00105
NM_000368.5(TSC1):c.-7C>T rs62621221 0.00105
NM_000478.6(ALPL):c.997+11C>T rs187255765 0.00105
NM_001040167.2(LFNG):c.612C>T (p.Tyr204=) rs147266260 0.00105
NM_001069.3(TUBB2A):c.553G>A (p.Ala185Thr) rs76334433 0.00105
NM_001102564.3(IFT43):c.54+15G>T rs372505367 0.00105
NM_001122681.2(SH3BP2):c.299A>G (p.His100Arg) rs142051964 0.00105
NM_001329943.3(KIAA0586):c.1130-16A>C rs187748315 0.00105
NM_001453.3(FOXC1):c.921C>T (p.Gly307=) rs369300819 0.00105
NM_001852.4(COL9A2):c.151-8T>C rs144162904 0.00105
NM_002386.4(MC1R):c.*380C>G rs764002798 0.00105
NM_002386.4(MC1R):c.399C>T (p.Cys133=) rs201429598 0.00105
NM_004565.3(PEX14):c.208T>G (p.Ser70Ala) rs77261230 0.00105
NM_005045.4(RELN):c.5880A>G (p.Thr1960=) rs362793 0.00105
NM_005413.4(SIX3):c.219C>T (p.Pro73=) rs186163123 0.00105
NM_005592.4(MUSK):c.1683G>A (p.Leu561=) rs192173278 0.00105
NM_018136.5(ASPM):c.-9G>T rs141108591 0.00105
NM_020754.4(ARHGAP31):c.2359C>G (p.Pro787Ala) rs186621177 0.00105
NM_022370.4(ROBO3):c.1852G>A (p.Gly618Ser) rs74787566 0.00105
NM_058216.3(RAD51C):c.195A>G (p.Arg65=) rs45511291 0.00105
NM_147127.5(EVC2):c.2707-13A>T rs146588799 0.00105
NM_000168.6(GLI3):c.3208A>T (p.Thr1070Ser) rs150907867 0.00104
NM_000368.5(TSC1):c.876C>T (p.Val292=) rs116756594 0.00104
NM_001371623.1(TCOF1):c.999G>A (p.Gly333=) rs55918703 0.00104
NM_002386.4(MC1R):c.-114G>A rs148003355 0.00104
NM_004304.5(ALK):c.4785C>T (p.Ala1595=) rs76150405 0.00104
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp) rs28997569 0.00104
NM_130468.4(CHST14):c.807T>C (p.Asp269=) rs139229738 0.00104
NM_000501.4(ELN):c.469+14G>A rs41347751 0.00103
NM_000503.6(EYA1):c.1141-15T>G rs186249248 0.00103
NM_000719.7(CACNA1C):c.4956+17G>A rs200706151 0.00103
NM_001018115.3(FANCD2):c.491+10G>A rs17032279 0.00103
NM_001351132.2(PEX5):c.658C>T (p.Arg220Trp) rs200020561 0.00103
NM_001367624.2(ZNF469):c.10518G>A (p.Pro3506=) rs376379111 0.00103
NM_002272.4(KRT4):c.1203C>T (p.Arg401=) rs199607128 0.00103
NM_002386.4(MC1R):c.359T>C (p.Ile120Thr) rs33932559 0.00103
NM_002541.4(OGDH):c.1968G>A (p.Ala656=) rs61756582 0.00103
NM_003072.5(SMARCA4):c.3891C>G (p.Pro1297=) rs149562732 0.00103
NM_003738.5(PTCH2):c.622C>T (p.Arg208Cys) rs149379394 0.00103
NM_004239.4(TRIP11):c.5010T>C (p.Ala1670=) rs149334552 0.00103
NM_004370.6(COL12A1):c.7355-9A>G rs145346828 0.00103
NM_004370.6(COL12A1):c.8421C>T (p.Arg2807=) rs371949188 0.00103
NM_004380.3(CREBBP):c.5829G>A (p.Pro1943=) rs546554430 0.00103
NM_004380.3(CREBBP):c.7302G>A (p.Thr2434=) rs144609433 0.00103
NM_004415.4(DSP):c.8455A>C (p.Met2819Leu) rs138329459 0.00103
NM_004453.4(ETFDH):c.1812G>A (p.Val604=) rs17843967 0.00103
NM_014244.5(ADAMTS2):c.2763C>T (p.Gly921=) rs144797464 0.00103
NM_017617.5(NOTCH1):c.2604C>T (p.Val868=) rs115235667 0.00103
NM_021625.5(TRPV4):c.*486T>C rs79157363 0.00103
NM_023110.3(FGFR1):c.-124G>A rs17182079 0.00103
NM_032609.3(COX4I2):c.88G>C (p.Gly30Arg) rs148327783 0.00103
NM_052989.3(IFT122):c.2433C>T (p.Cys811=) rs141626835 0.00103
NM_145068.4(TRPV3):c.*1083A>C rs144909742 0.00103
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00102
NM_000093.5(COL5A1):c.3855C>T (p.Gly1285=) rs139544503 0.00102
NM_000478.6(ALPL):c.1482C>T (p.Leu494=) rs142545037 0.00102
NM_000501.4(ELN):c.1358-268A>G rs374066807 0.00102
NM_000719.7(CACNA1C):c.5609C>T (p.Thr1870Met) rs201777030 0.00102
NM_001001433.3(STX16):c.*1790A>T rs145827696 0.00102
NM_001011658.4(TRAPPC2):c.*2035C>T rs41297317 0.00102
NM_001082486.2(ACD):c.132C>T (p.Gly44=) rs138527794 0.00102
NM_001083961.2(WDR62):c.3231C>T (p.Pro1077=) rs187029707 0.00102
NM_001371623.1(TCOF1):c.1034A>G (p.Glu345Gly) rs150637771 0.00102
NM_001378452.1(ITPR1):c.4288A>G (p.Ile1430Val) rs3749383 0.00102
NM_001999.4(FBN2):c.3144C>T (p.Tyr1048=) rs1801167 0.00102
NM_001999.4(FBN2):c.3351C>T (p.Asp1117=) rs78484531 0.00102
NM_001999.4(FBN2):c.6655A>G (p.Ile2219Val) rs140821039 0.00102
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649 0.00102
NM_006796.3(AFG3L2):c.1319-7C>T rs182327153 0.00102
NM_014780.5(CUL7):c.3490C>T (p.Arg1164Trp) rs201135654 0.00102
NM_025136.4(OPA3):c.*6688G>A rs181576269 0.00102
NM_000046.5(ARSB):c.82C>T (p.Leu28=) rs138587718 0.00101
NM_000088.4(COL1A1):c.2613+14G>A rs41316685 0.00101
NM_000093.5(COL5A1):c.1953C>T (p.Ser651=) rs78215347 0.00101
NM_000489.6(ATRX):c.846C>T (p.Ser282=) rs148015780 0.00101
NM_001039958.2(MESP2):c.67G>A (p.Gly23Ser) rs548112443 0.00101
NM_001368809.2(AMPD2):c.855C>T (p.Asp285=) rs114463063 0.00101
NM_001374353.1(GLI2):c.4446T>C (p.Thr1482=) rs151090814 0.00101
NM_001379286.1(ZNF423):c.807C>T (p.Asp269=) rs145503941 0.00101
NM_001382391.1(CSPP1):c.2122A>G (p.Ser708Gly) rs201316149 0.00101
NM_001999.4(FBN2):c.4222+12A>G rs79445561 0.00101
NM_002449.5(MSX2):c.*635G>A rs192627117 0.00101
NM_004370.6(COL12A1):c.8179-10A>G rs142509363 0.00101
NM_004560.4(ROR2):c.937+16C>T rs112054737 0.00101
NM_005585.5(SMAD6):c.362G>A (p.Cys121Tyr) rs80232004 0.00101
NM_005751.5(AKAP9):c.9358+11T>C rs199714035 0.00101
NM_006939.4(SOS2):c.858+9A>G rs201701595 0.00101
NM_012330.4(KAT6B):c.2231+9A>G rs201260397 0.00101
NM_015272.5(RPGRIP1L):c.1072T>C (p.Leu358=) rs147295026 0.00101
NM_017780.4(CHD7):c.1565G>T (p.Gly522Val) rs142962579 0.00101
NM_133433.4(NIPBL):c.2256A>G (p.Glu752=) rs148075057 0.00101
NM_198173.3(GRHL3):c.781G>A (p.Val261Ile) rs145470039 0.00101
NM_000169.3(GLA):c.978G>A (p.Lys326=) rs151195362 0.00100
NM_001122630.2(CDKN1C):c.39A>G (p.Leu13=) rs3852522 0.00100
NM_001429.4(EP300):c.6969C>G (p.Pro2323=) rs111489369 0.00100
NM_001999.4(FBN2):c.3767A>G (p.Gln1256Arg) rs139052603 0.00100
NM_002541.4(OGDH):c.1830G>A (p.Thr610=) rs150682094 0.00100
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=) rs148688181 0.00100
NM_006015.6(ARID1A):c.4152C>T (p.His1384=) rs149908828 0.00100
NM_017780.4(CHD7):c.6660T>G (p.Gly2220=) rs34527521 0.00100
NM_020806.5(GPHN):c.26C>G (p.Thr9Ser) rs150226537 0.00100
NM_022114.4(PRDM16):c.2940-18C>T rs377695146 0.00100
NM_022114.4(PRDM16):c.3570G>A (p.Pro1190=) rs541512137 0.00100
NM_032861.4(SERAC1):c.1137A>G (p.Val379=) rs115846131 0.00100
NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=) rs148700620 0.00099
NM_001083962.2(TCF4):c.*832G>T rs181670668 0.00099
NM_001122681.2(SH3BP2):c.*5965A>C rs556190949 0.00099
NM_001374353.1(GLI2):c.1808C>T (p.Thr603Met) rs142775128 0.00099
NM_001379286.1(ZNF423):c.3602-16C>T rs200838088 0.00099
NM_003289.4(TPM2):c.564-18dup rs776086128 0.00099
NM_013275.6(ANKRD11):c.4440T>C (p.His1480=) rs139429949 0.00099
NM_000057.4(BLM):c.3879A>G (p.Glu1293=) rs28377085 0.00098
NM_000169.3(GLA):c.8T>C (p.Leu3Pro) rs150547672 0.00098
NM_000238.4(KCNH2):c.3133C>T (p.Leu1045Phe) rs199473025 0.00098
NM_000257.4(MYH7):c.4806C>T (p.Asp1602=) rs142034311 0.00098
NM_000264.5(PTCH1):c.2173C>T (p.Pro725Ser) rs149258400 0.00098
NM_001001433.3(STX16):c.-63T>C rs181473720 0.00098
NM_001001433.3(STX16):c.456G>T (p.Glu152Asp) rs138647604 0.00098
NM_001127649.3(PEX26):c.497G>A (p.Arg166Gln) rs34194489 0.00098
NM_001329943.3(KIAA0586):c.200-14C>A rs373882617 0.00098
NM_001329943.3(KIAA0586):c.600G>A (p.Leu200=) rs61738360 0.00098
NM_001365999.1(SZT2):c.3570C>T (p.Val1190=) rs147644619 0.00098
NM_001371986.1(UNC80):c.4572G>A (p.Ser1524=) rs200541732 0.00098
NM_002693.3(POLG):c.2982-30G>A rs76339822 0.00098
NM_002857.4(PEX19):c.459G>A (p.Leu153=) rs78340311 0.00098
NM_004260.4(RECQL4):c.2460C>T (p.Pro820=) rs202078917 0.00098
NM_004560.4(ROR2):c.1670C>T (p.Ser557Leu) rs56099091 0.00098
NM_005045.4(RELN):c.4748-11T>C rs201494847 0.00098
NM_005592.4(MUSK):c.1026G>A (p.Ala342=) rs200434321 0.00098
NM_012293.3(PXDN):c.2283C>T (p.Thr761=) rs201654539 0.00098
NM_015450.3(POT1):c.1022A>G (p.Gln341Arg) rs554325914 0.00098
NM_016938.5(EFEMP2):c.990G>A (p.Pro330=) rs61740381 0.00098
NM_020779.4(WDR35):c.1471-7A>G rs376388391 0.00098
NM_020779.4(WDR35):c.437-13T>C rs367802842 0.00098
NM_021625.5(TRPV4):c.854-4G>A rs371733585 0.00098
NM_025074.7(FRAS1):c.*503T>C rs3749484 0.00098
NM_000077.5(CDKN2A):c.-2G>A rs191394143 0.00097
NM_000199.5(SGSH):c.1446C>T (p.Ala482=) rs113679696 0.00097
NM_000238.4(KCNH2):c.1563C>T (p.Ile521=) rs143011005 0.00097
NM_001271938.2(MEGF8):c.918C>T (p.Asp306=) rs373759775 0.00097
NM_001282531.3(ADNP):c.3279C>T (p.Ala1093=) rs142247083 0.00097
NM_002386.4(MC1R):c.*209C>A rs551043523 0.00097
NM_002397.5(MEF2C):c.834+15C>T rs140447603 0.00097
NM_002449.5(MSX2):c.117C>T (p.Arg39=) rs376630472 0.00097
NM_003036.4(SKI):c.798C>T (p.Ala266=) rs149642284 0.00097
NM_004168.4(SDHA):c.1396G>A (p.Ala466Thr) rs111387770 0.00097
NM_004273.5(CHST3):c.1197C>T (p.Asp399=) rs184636110 0.00097
NM_004565.3(PEX14):c.267C>G (p.Val89=) rs146359055 0.00097
NM_007373.4(SHOC2):c.*3T>C rs143187497 0.00097
NM_013275.6(ANKRD11):c.6978C>T (p.Ala2326=) rs558301893 0.00097
NM_014141.6(CNTNAP2):c.3011-11C>T rs201397443 0.00097
NM_014244.5(ADAMTS2):c.1122C>T (p.Ser374=) rs145109914 0.00097
NM_058179.4(PSAT1):c.696G>A (p.Val232=) rs140331840 0.00097
NM_152564.5(VPS13B):c.11495+19G>A rs370575091 0.00097
NM_000238.4(KCNH2):c.1581G>A (p.Ala527=) rs150275982 0.00096
NM_000280.4(PAX6):c.*3885G>T rs183433948 0.00096
NM_000466.3(PEX1):c.3371A>G (p.Asn1124Ser) rs147870525 0.00096
NM_000503.6(EYA1):c.1199+13G>T rs200345478 0.00096
NM_000719.7(CACNA1C):c.3642C>T (p.Tyr1214=) rs56394008 0.00096
NM_000719.7(CACNA1C):c.5199G>A (p.Ala1733=) rs200638007 0.00096
NM_001042492.3(NF1):c.*29A>G rs139147882 0.00096
NM_001082486.2(ACD):c.444C>T (p.Leu148=) rs151132164 0.00096
NM_001083962.2(TCF4):c.*4549C>G rs562495030 0.00096
NM_001122955.4(BSCL2):c.845C>T (p.Ala282Val) rs185341934 0.00096
NM_001291867.2(NHS):c.828G>A (p.Glu276=) rs147497359 0.00096
NM_001329943.3(KIAA0586):c.340+15T>C rs139305633 0.00096
NM_001330078.2(NRXN1):c.4275G>T (p.Arg1425=) rs143495349 0.00096
NM_001365999.1(SZT2):c.7149C>T (p.Ala2383=) rs60480887 0.00096
NM_001999.4(FBN2):c.3273T>C (p.Asn1091=) rs116741030 0.00096
NM_002010.3(FGF9):c.*355C>G rs147999718 0.00096
NM_002470.4(MYH3):c.2883C>A (p.Thr961=) rs144338240 0.00096
NM_002470.4(MYH3):c.4082C>T (p.Ala1361Val) rs140218185 0.00096
NM_003052.5(SLC34A1):c.*361T>C rs539754545 0.00096
NM_003482.4(KMT2D):c.3666C>T (p.Gly1222=) rs138419124 0.00096
NM_004064.5(CDKN1B):c.475+10C>T rs36101844 0.00096
NM_004304.5(ALK):c.2148C>T (p.Ser716=) rs55733526 0.00096
NM_004304.5(ALK):c.776G>A (p.Arg259His) rs138686378 0.00096
NM_004387.4(NKX2-5):c.606G>C (p.Leu202=) rs3729753 0.00096
NM_006939.4(SOS2):c.213+18A>T rs143888968 0.00096
NM_013275.6(ANKRD11):c.4619A>G (p.Lys1540Arg) rs145415643 0.00096
NM_016204.4(GDF2):c.652G>A (p.Asp218Asn) rs142402214 0.00096
NM_020436.5(SALL4):c.1497G>T (p.Thr499=) rs148435082 0.00096
NM_020779.4(WDR35):c.142+10T>C rs186647997 0.00096
NM_025136.4(OPA3):c.*2518A>G rs565012397 0.00096
NM_145068.4(TRPV3):c.*2094G>A rs59731070 0.00096
NM_152564.5(VPS13B):c.9903G>A (p.Glu3301=) rs150573530 0.00096
NM_000257.4(MYH7):c.2945T>C (p.Met982Thr) rs145532615 0.00095
NM_000346.4(SOX9):c.1320C>T (p.Tyr440=) rs80338688 0.00095
NM_001080432.3(FTO):c.*2210A>G rs117637522 0.00095
NM_001148.6(ANK2):c.5985G>A (p.Lys1995=) rs116652427 0.00095
NM_001174147.2(LMX1B):c.*438G>C rs140325479 0.00095
NM_001291415.2(KDM6A):c.749-17T>A rs190081920 0.00095
NM_001852.4(COL9A2):c.1009-12T>G rs200570244 0.00095
NM_003334.4(UBA1):c.909+12G>A rs367556596 0.00095
NM_005027.4(PIK3R2):c.691C>T (p.Arg231Cys) rs558127851 0.00095
NM_012243.3(SLC35A3):c.531G>C (p.Met177Ile) rs151009402 0.00095
NM_020458.4(TTC7A):c.2085C>G (p.Pro695=) rs139460494 0.00095
NM_020754.4(ARHGAP31):c.2364A>T (p.Pro788=) rs61746581 0.00095
NM_032634.4(PIGO):c.2124G>A (p.Leu708=) rs201657672 0.00095
NM_052989.3(IFT122):c.825G>T (p.Lys275Asn) rs117517364 0.00095
NM_133433.4(NIPBL):c.1985A>G (p.Lys662Arg) rs140100861 0.00095
NM_000093.5(COL5A1):c.61C>T (p.Pro21Ser) rs548525119 0.00094
NM_000116.5(TAFAZZIN):c.*560G>A rs782808430 0.00094
NM_001354604.2(MITF):c.1280T>C (p.Val427Ala) rs2055006 0.00094
NM_001374353.1(GLI2):c.129A>C (p.Ala43=) rs201041526 0.00094
NM_002272.4(KRT4):c.361C>A (p.Pro121Thr) rs200831095 0.00094
NM_004525.3(LRP2):c.12462-13C>T rs139211353 0.00094
NM_014780.5(CUL7):c.465A>T (p.Gly155=) rs150212051 0.00094
NM_020779.4(WDR35):c.507A>G (p.Lys169=) rs200495720 0.00094
NM_030665.4(RAI1):c.840_843del (p.Gln280fs) rs775735568 0.00094
NM_130837.3(OPA1):c.*2993C>A rs143991575 0.00094
NM_130837.3(OPA1):c.949-11A>C rs376681712 0.00094
NM_000057.4(BLM):c.3359-13A>G rs200250931 0.00093
NM_000071.3(CBS):c.1223+12C>T rs116578198 0.00093
NM_000090.4(COL3A1):c.1051-13G>A rs371934572 0.00093
NM_000095.3(COMP):c.279C>A (p.Pro93=) rs139319996 0.00093
NM_000193.4(SHH):c.876G>A (p.Gly292=) rs112055654 0.00093
NM_000287.4(PEX6):c.1677C>A (p.Asp559Glu) rs61732159 0.00093
NM_000719.7(CACNA1C):c.3049-10C>T rs186741807 0.00093
NM_001130144.3(LTBP3):c.1077C>T (p.Cys359=) rs117063418 0.00093
NM_001130144.3(LTBP3):c.1186+18G>T rs369938562 0.00093
NM_002334.4(LRP4):c.4951+10A>G rs371455422 0.00093
NM_002857.4(PEX19):c.16G>A (p.Glu6Lys) rs145845197 0.00093
NM_002968.3(SALL1):c.411C>T (p.Ser137=) rs151051011 0.00093
NM_004304.5(ALK):c.2613C>T (p.Asn871=) rs150557024 0.00093
NM_005257.6(GATA6):c.1350A>G (p.Thr450=) rs61731977 0.00093
NM_012293.3(PXDN):c.531A>G (p.Thr177=) rs577963506 0.00093
NM_014244.5(ADAMTS2):c.689-19C>T rs201779376 0.00093
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=) rs61751553 0.00093
NM_020529.3(NFKBIA):c.227+16C>T rs539047415 0.00093
NM_020533.3(MCOLN1):c.32-10A>G rs371191277 0.00093
NM_022336.4(EDAR):c.849C>T (p.Ser283=) rs145796324 0.00093
NM_022458.4(LMBR1):c.*1061A>G rs138905233 0.00093
NM_153717.3(EVC):c.2707A>G (p.Ile903Val) rs143678893 0.00093
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686 0.00092
NM_000168.6(GLI3):c.*943G>A rs139782938 0.00092
NM_000214.3(JAG1):c.1578C>T (p.Ile526=) rs1801139 0.00092
NM_000218.3(KCNQ1):c.478-20G>A rs368080519 0.00092
NM_000302.4(PLOD1):c.2028+8G>T rs181951731 0.00092
NM_000512.5(GALNS):c.303C>T (p.Asn101=) rs79146426 0.00092
NM_000719.7(CACNA1C):c.4074+14A>G rs371806132 0.00092
NM_001024630.4(RUNX2):c.*3030C>T rs145866183 0.00092
NM_001365951.3(KIF1B):c.3885A>C (p.Thr1295=) rs139159572 0.00092
NM_001429.4(EP300):c.6675G>A (p.Gln2225=) rs147880144 0.00092
NM_002470.4(MYH3):c.642+10G>A rs183463746 0.00092
NM_002693.3(POLG):c.2207A>G (p.Asn736Ser) rs138457939 0.00092
NM_003239.5(TGFB3):c.293C>T (p.Ser98Leu) rs142047577 0.00092
NM_004208.4(AIFM1):c.-165G>A rs759015293 0.00092
NM_004560.4(ROR2):c.1736A>T (p.Asp579Val) rs150610444 0.00092
NM_005529.7(HSPG2):c.958+14G>A rs200930800 0.00092
NM_013275.6(ANKRD11):c.172C>A (p.Arg58=) rs144364610 0.00092
NM_016938.5(EFEMP2):c.738G>A (p.Glu246=) rs144780990 0.00092
NM_020937.4(FANCM):c.1397-12A>G rs560956489 0.00092
NM_023110.3(FGFR1):c.1081+20C>T rs17175982 0.00092
NM_025136.4(OPA3):c.*4949G>A rs544881797 0.00092
NM_152594.3(SPRED1):c.675C>T (p.Ser225=) rs144764225 0.00092
NM_207034.3(EDN3):c.*171G>A rs3026575 0.00092
NM_000020.3(ACVRL1):c.1378-115T>A rs568821415 0.00091
NM_000138.5(FBN1):c.783T>C (p.Asn261=) rs113721547 0.00091
NM_000493.4(COL10A1):c.43T>G (p.Leu15Val) rs147612968 0.00091
NM_001106.4(ACVR2B):c.*427C>G rs543992989 0.00091
NM_001106.4(ACVR2B):c.*7413T>C rs148351980 0.00091
NM_001114753.3(ENG):c.225G>A (p.Pro75=) rs116146060 0.00091
NM_001931.5(DLAT):c.46G>A (p.Ala16Thr) rs150145390 0.00091
NM_002524.5(NRAS):c.*3384C>T rs140049110 0.00091
NM_003036.4(SKI):c.1851G>A (p.Glu617=) rs146789646 0.00091
NM_003482.4(KMT2D):c.5874C>T (p.Arg1958=) rs182887940 0.00091
NM_005045.4(RELN):c.577+7G>T rs188372756 0.00091
NM_005236.3(ERCC4):c.974-6T>C rs201181735 0.00091
NM_012082.4(ZFPM2):c.41-4C>A rs374926066 0.00091
NM_012293.3(PXDN):c.2385G>A (p.Pro795=) rs373265335 0.00091
NM_014423.4(AFF4):c.3000A>G (p.Val1000=) rs141975451 0.00091
NM_014780.5(CUL7):c.2803C>T (p.Leu935=) rs146309619 0.00091
NM_014918.5(CHSY1):c.1725C>T (p.Asp575=) rs151237975 0.00091
NM_015443.4(KANSL1):c.2949C>T (p.Tyr983=) rs146848167 0.00091
NM_017837.4(PIGV):c.*149G>A rs3754360 0.00091
NM_022114.4(PRDM16):c.573+17A>G rs370287328 0.00091
NM_022336.4(EDAR):c.*1774G>A rs189855301 0.00091
NM_024757.5(EHMT1):c.1149G>A (p.Ser383=) rs140345462 0.00091
NM_025074.7(FRAS1):c.3010+14_3010+29del rs112289727 0.00091
NM_025114.4(CEP290):c.4806G>A (p.Thr1602=) rs201614215 0.00091
NM_145068.4(TRPV3):c.*2477T>G rs574572785 0.00091
NM_153603.4(COG7):c.900C>T (p.Asn300=) rs112611398 0.00091
NM_000020.3(ACVRL1):c.543C>T (p.Asp181=) rs140970131 0.00090
NM_000489.6(ATRX):c.5787-20G>T rs185359850 0.00090
NM_001024630.4(RUNX2):c.*2657T>G rs537428636 0.00090
NM_001148.6(ANK2):c.4745G>A (p.Arg1582Gln) rs138842207 0.00090
NM_001368809.2(AMPD2):c.1408-12C>T rs189047791 0.00090
NM_004387.4(NKX2-5):c.355G>T (p.Ala119Ser) rs137852684 0.00090
NM_006015.6(ARID1A):c.3716-7C>T rs150792057 0.00090
NM_018475.5(TMEM165):c.96G>T (p.Arg32=) rs769539033 0.00090
NM_147127.5(EVC2):c.2244C>T (p.Thr748=) rs146588335 0.00090
NC_000009.12:g.35658080G>T rs367843919 0.00089
NM_000135.4(FANCA):c.237C>T (p.Asp79=) rs144151341 0.00089
NM_000138.5(FBN1):c.6987C>G (p.Asp2329Glu) rs363831 0.00089
NM_000553.6(WRN):c.2500C>T (p.Arg834Cys) rs3087425 0.00089
NM_000553.6(WRN):c.3900C>A (p.Pro1300=) rs138886038 0.00089
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00089
NM_001077418.3(TMEM231):c.900T>C (p.Ile300=) rs199628375 0.00089
NM_001122681.2(SH3BP2):c.1089T>C (p.Ala363=) rs138192611 0.00089
NM_001148.6(ANK2):c.1863C>G (p.Ser621=) rs146425138 0.00089
NM_001291867.2(NHS):c.2330T>C (p.Phe777Ser) rs143081492 0.00089
NM_001346754.2(PIGW):c.253G>A (p.Gly85Ser) rs117789606 0.00089
NM_001999.4(FBN2):c.-269A>G rs149771492 0.00089
NM_002968.3(SALL1):c.1878G>C (p.Glu626Asp) rs80248061 0.00089
NM_003119.4(SPG7):c.1083G>A (p.Ala361=) rs114135540 0.00089
NM_005592.4(MUSK):c.358+20G>A rs144807641 0.00089
NM_014918.5(CHSY1):c.1602A>T (p.Ile534=) rs146586939 0.00089
NM_020779.4(WDR35):c.2149A>G (p.Ile717Val) rs144493712 0.00089
NM_022356.4(P3H1):c.-57G>T rs190782130 0.00089
NM_025216.3(WNT10A):c.208C>T (p.Arg70Trp) rs146460077 0.00089
NM_000046.5(ARSB):c.1078C>T (p.Leu360=) rs140923667 0.00088
NM_000093.5(COL5A1):c.*1343A>G rs77145856 0.00088
NM_000108.5(DLD):c.1464+11A>G rs184949878 0.00088
NM_000199.5(SGSH):c.303C>T (p.Phe101=) rs150482611 0.00088
NM_000264.5(PTCH1):c.2680G>A (p.Asp894Asn) rs56173896 0.00088
NM_000719.7(CACNA1C):c.4611C>T (p.Arg1537=) rs372702466 0.00088
NM_001042492.3(NF1):c.8114-70A>T rs192112633 0.00088
NM_001374353.1(GLI2):c.607G>A (p.Ala203Thr) rs147044066 0.00088
NM_001394062.1(MACF1):c.13145A>G (p.Asn4382Ser) rs148069432 0.00088
NM_002408.4(MGAT2):c.*228A>G rs118186898 0.00088
NM_002880.4(RAF1):c.1830A>G (p.Gln610=) rs141791080 0.00088
NM_003070.5(SMARCA2):c.3438C>T (p.Ser1146=) rs62534896 0.00088
NM_003334.4(UBA1):c.117+9C>T rs371344095 0.00088
NM_005413.4(SIX3):c.369G>A (p.Glu123=) rs200331042 0.00088
NM_005908.4(MANBA):c.479G>A (p.Arg160His) rs144917953 0.00088
NM_005921.2(MAP3K1):c.710A>G (p.Gln237Arg) rs55694258 0.00088
NM_006015.6(ARID1A):c.472C>T (p.Pro158Ser) rs567246585 0.00088
NM_006796.3(AFG3L2):c.400-14C>G rs192002414 0.00088
NM_020639.3(RIPK4):c.303G>A (p.Thr101=) rs2277792 0.00088
NM_020964.3(EPG5):c.214G>A (p.Ala72Thr) rs201067154 0.00088
NM_020964.3(EPG5):c.5070A>G (p.Thr1690=) rs35073566 0.00088
NM_022114.4(PRDM16):c.1134C>G (p.Ser378=) rs200169663 0.00088
NM_025136.4(OPA3):c.*1238G>A rs187216413 0.00088
NM_032043.3(BRIP1):c.*3450T>C rs74859843 0.00088
NM_145068.4(TRPV3):c.72C>T (p.Ala24=) rs116068630 0.00088
NM_152269.5(MTRFR):c.468A>G (p.Lys156=) rs147972301 0.00088
NM_152564.5(VPS13B):c.7695C>T (p.Cys2565=) rs114038492 0.00088
NM_153603.4(COG7):c.1888-17G>A rs112887835 0.00088
NM_198253.3(TERT):c.1884C>T (p.Asp628=) rs143992655 0.00088
NM_000088.4(COL1A1):c.4181A>G (p.Asn1394Ser) rs147266928 0.00087
NM_000093.5(COL5A1):c.2588A>T (p.Glu863Val) rs139788610 0.00087
NM_000169.3(GLA):c.639+18G>A rs189319122 0.00087
NM_000393.5(COL5A2):c.4173C>G (p.Arg1391=) rs148590409 0.00087
NM_000890.5(KCNJ5):c.837G>A (p.Glu279=) rs149861510 0.00087
NM_001080432.3(FTO):c.*1331G>A rs116978290 0.00087
NM_001114753.3(ENG):c.1419C>T (p.Ser473=) rs561818608 0.00087
NM_001614.5(ACTG1):c.39C>T (p.Gly13=) rs146865914 0.00087
NM_001999.4(FBN2):c.*514A>C rs551470283 0.00087
NM_002386.4(MC1R):c.309C>T (p.Ala103=) rs140650544 0.00087
NM_002880.4(RAF1):c.581+4A>G rs201776526 0.00087
NM_003070.5(SMARCA2):c.1422G>A (p.Gln474=) rs144434753 0.00087
NM_003238.6(TGFB2):c.114G>A (p.Glu38=) rs149215818 0.00087
NM_012414.4(RAB3GAP2):c.3867+13C>T rs200579008 0.00087
NM_014795.4(ZEB2):c.2230A>G (p.Ile744Val) rs112005830 0.00087
NM_015443.4(KANSL1):c.1738G>A (p.Val580Ile) rs117412152 0.00087
NM_015443.4(KANSL1):c.2628C>T (p.Arg876=) rs149756887 0.00087
NM_022455.5(NSD1):c.1574G>A (p.Arg525Gln) rs138405802 0.00087
NM_024537.4(CARS2):c.586G>A (p.Asp196Asn) rs140082252 0.00087
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu) rs149126845 0.00087
NM_153490.3(KRT13):c.509C>G (p.Thr170Ser) rs148102980 0.00087
NM_000057.4(BLM):c.2362C>A (p.Leu788Ile) rs149754073 0.00086
NM_000071.3(CBS):c.52C>T (p.Arg18Cys) rs201827340 0.00086
NM_000093.5(COL5A1):c.3528+14C>T rs371865645 0.00086
NM_000165.5(GJA1):c.837G>A (p.Ser279=) rs67407537 0.00086
NM_000264.5(PTCH1):c.2304C>T (p.Thr768=) rs1805156 0.00086
NM_000264.5(PTCH1):c.4048C>T (p.Arg1350Trp) rs140417636 0.00086
NM_000503.6(EYA1):c.*23G>A rs373876510 0.00086
NM_001005498.4(RHBDF2):c.*116G>A rs553431491 0.00086
NM_001110219.3(GJB6):c.607A>G (p.Met203Val) rs200674715 0.00086
NM_001291867.2(NHS):c.4832G>C (p.Ser1611Thr) rs140651691 0.00086
NM_001291867.2(NHS):c.765C>G (p.Pro255=) rs143119491 0.00086
NM_001365999.1(SZT2):c.7512-3C>T rs117106532 0.00086
NM_001365999.1(SZT2):c.8020T>C (p.Leu2674=) rs187106999 0.00086
NM_001371623.1(TCOF1):c.3339G>A (p.Gln1113=) rs147074393 0.00086
NM_001374353.1(GLI2):c.2199T>G (p.Thr733=) rs146909860 0.00086
NM_001374353.1(GLI2):c.291C>T (p.Asp97=) rs199671413 0.00086
NM_001793.6(CDH3):c.141C>G (p.Pro47=) rs74619658 0.00086
NM_002408.4(MGAT2):c.768T>G (p.Leu256=) rs77872234 0.00086
NM_004304.5(ALK):c.2430C>T (p.Ser810=) rs150292405 0.00086
NM_004370.6(COL12A1):c.8753-19G>A rs185465645 0.00086
NM_005105.5(RBM8A):c.318C>T (p.Leu106=) rs139097271 0.00086
NM_005360.5(MAF):c.1179G>A (p.Gln393=) rs149118803 0.00086
NM_006121.4(KRT1):c.1677C>T (p.Tyr559=) rs11170232 0.00086
NM_013275.6(ANKRD11):c.6560C>T (p.Pro2187Leu) rs202216051 0.00086
NM_014846.4(WASHC5):c.1187A>G (p.Lys396Arg) rs142423043 0.00086
NM_015713.5(RRM2B):c.*1596T>C rs182874090 0.00086
NM_017617.5(NOTCH1):c.1650C>T (p.Tyr550=) rs371634784 0.00086
NM_022455.5(NSD1):c.2450C>T (p.Ser817Phe) rs115722008 0.00086
NM_153704.6(TMEM67):c.714+18A>T rs140881754 0.00086
NM_181486.4(TBX5):c.316A>G (p.Ile106Val) rs147710408 0.00086
NM_000088.4(COL1A1):c.3993C>T (p.Thr1331=) rs148659814 0.00085
NM_000093.5(COL5A1):c.*187C>T rs565085023 0.00085
NM_000203.5(IDUA):c.1190-19G>C rs1285206431 0.00085
NM_000238.4(KCNH2):c.1528C>T (p.Leu510=) rs75648145 0.00085
NM_000288.4(PEX7):c.615C>T (p.Asp205=) rs147298444 0.00085
NM_000553.6(WRN):c.720T>G (p.Asn240Lys) rs148229804 0.00085
NM_001367624.2(ZNF469):c.946G>A (p.Glu316Lys) rs368772806 0.00085
NM_002693.3(POLG):c.2165G>A (p.Arg722His) rs185645212 0.00085
NM_002734.5(PRKAR1A):c.*1057G>A rs373618236 0.00085
NM_003384.3(VRK1):c.286+12A>G rs376603491 0.00085
NM_003482.4(KMT2D):c.3907-11C>G rs371235044 0.00085
NM_005996.4(TBX3):c.1783T>G (p.Ser595Ala) rs763473739 0.00085
NM_012123.4(MTO1):c.176G>C (p.Gly59Ala) rs201279883 0.00085
NM_000168.6(GLI3):c.501G>A (p.Thr167=) rs149901929 0.00084
NM_000475.5(NR0B1):c.1410A>G (p.Ile470Met) rs151317312 0.00084
NM_001042545.2(LTBP4):c.2681-10C>G rs200914063 0.00084
NM_001083962.2(TCF4):c.305-14G>A rs187703131 0.00084
NM_001148.6(ANK2):c.11538C>T (p.Leu3846=) rs45602336 0.00084
NM_001379286.1(ZNF423):c.819C>T (p.Cys273=) rs201499268 0.00084
NM_001429.4(EP300):c.4779+18A>G rs146245982 0.00084
NM_002693.3(POLG):c.145C>G (p.Gln49Glu) rs200132079 0.00084
NM_003738.5(PTCH2):c.1569G>A (p.Ala523=) rs143390610 0.00084
NM_004453.4(ETFDH):c.1602G>A (p.Pro534=) rs142475999 0.00084
NM_005045.4(RELN):c.7111G>A (p.Ala2371Thr) rs79377093 0.00084
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=) rs146673563 0.00084
NM_015335.5(MED13L):c.1008A>C (p.Leu336=) rs150782464 0.00084
NM_018122.5(DARS2):c.128-5T>A rs200078808 0.00084
NM_022114.4(PRDM16):c.429C>T (p.Cys143=) rs150097149 0.00084
NM_052989.3(IFT122):c.41+15G>T rs36222038 0.00084
NM_000071.3(CBS):c.1257G>A (p.Leu419=) rs138432416 0.00083
NM_000090.4(COL3A1):c.3938A>G (p.Lys1313Arg) rs111840783 0.00083
NM_000093.5(COL5A1):c.4795G>C (p.Glu1599Gln) rs149212775 0.00083
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu) rs147017625 0.00083
NM_000238.4(KCNH2):c.51C>G (p.Thr17=) rs144338227 0.00083
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn) rs142274954 0.00083
NM_000396.4(CTSK):c.-1-9C>T rs200480574 0.00083
NM_000719.7(CACNA1C):c.3234C>T (p.Asp1078=) rs111606207 0.00083
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=) rs147955381 0.00083
NM_001101.5(ACTB):c.687G>A (p.Thr229=) rs138499594 0.00083
NM_001127649.3(PEX26):c.728C>T (p.Ala243Val) rs149153003 0.00083
NM_001291303.3(FAT4):c.2919C>T (p.Val973=) rs144356360 0.00083
NM_001308093.3(GATA4):c.888C>T (p.Cys296=) rs143109496 0.00083
NM_001330078.2(NRXN1):c.2772C>T (p.Tyr924=) rs200182626 0.00083
NM_001367561.1(DOCK7):c.4119+18C>T rs368702983 0.00083
NM_001367561.1(DOCK7):c.480T>C (p.Ser160=) rs142535471 0.00083
NM_001374353.1(GLI2):c.*1895G>A rs76865566 0.00083
NM_001429.4(EP300):c.2998-14dup rs560058125 0.00083
NM_001429.4(EP300):c.3143-9T>C rs199773872 0.00083
NM_001999.4(FBN2):c.3974-19T>C rs112950479 0.00083
NM_002181.4(IHH):c.858G>A (p.Pro286=) rs146055831 0.00083
NM_002335.4(LRP5):c.2544G>A (p.Pro848=) rs148271293 0.00083
NM_003070.5(SMARCA2):c.4717G>A (p.Asp1573Asn) rs61736899 0.00083
NM_003070.5(SMARCA2):c.695A>C (p.Gln232Pro) rs143245740 0.00083
NM_003482.4(KMT2D):c.10045A>G (p.Met3349Val) rs80149580 0.00083
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe) rs137961578 0.00083
NM_013275.6(ANKRD11):c.6193T>C (p.Phe2065Leu) rs200351209 0.00083
NM_013275.6(ANKRD11):c.6221A>C (p.Glu2074Ala) rs201401760 0.00083
NM_014846.4(WASHC5):c.1029A>G (p.Gln343=) rs140523354 0.00083
NM_015335.5(MED13L):c.1010-14G>A rs368042803 0.00083
NM_017780.4(CHD7):c.2436A>T (p.Lys812Asn) rs61978638 0.00083
NM_018026.4(PACS1):c.2581C>T (p.Leu861=) rs201326960 0.00083
NM_021922.3(FANCE):c.266G>T (p.Arg89Leu) rs45600543 0.00083
NM_024312.5(GNPTAB):c.2481C>T (p.Gly827=) rs3751249 0.00083
NM_138959.3(VANGL1):c.274A>G (p.Ile92Val) rs143196463 0.00083
NM_139057.4(ADAMTS17):c.*671C>T rs76681073 0.00083
NM_147127.5(EVC2):c.904T>A (p.Phe302Ile) rs138728350 0.00083
NM_147127.5(EVC2):c.913G>T (p.Ala305Ser) rs150367317 0.00083
NM_174934.4(SCN4B):c.480C>T (p.Asn160=) rs72546675 0.00083
NM_181523.3(PIK3R1):c.1426-20T>G rs201254436 0.00083
NM_198253.3(TERT):c.1849C>T (p.Leu617=) rs140951453 0.00083
NM_000046.5(ARSB):c.1048A>G (p.Ile350Val) rs79970603 0.00082
NM_000925.4(PDHB):c.288T>C (p.Ala96=) rs138128142 0.00082
NM_001005498.4(RHBDF2):c.510G>A (p.Pro170=) rs140265206 0.00082
NM_001005498.4(RHBDF2):c.546G>A (p.Pro182=) rs3744044 0.00082
NM_001202.6(BMP4):c.860G>A (p.Arg287His) rs121912768 0.00082
NM_001291867.2(NHS):c.688G>A (p.Ala230Thr) rs78153843 0.00082
NM_003722.5(TP63):c.1587C>T (p.Leu529=) rs141847552 0.00082
NM_004304.5(ALK):c.2041+15C>T rs183024732 0.00082
NM_004523.4(KIF11):c.2153A>T (p.His718Leu) rs116942055 0.00082
NM_018718.3(CEP41):c.*3856C>T rs187532705 0.00082
NM_022168.4(IFIH1):c.1642-19G>A rs189341467 0.00082
NM_024596.5(MCPH1):c.647T>C (p.Ile216Thr) rs75741316 0.00082
NM_138959.3(VANGL1):c.*5808C>T rs184708484 0.00082
NM_000095.3(COMP):c.2152C>A (p.Arg718=) rs28936368 0.00081
NM_000135.4(FANCA):c.1626+29C>T rs1800334 0.00081
NM_000214.3(JAG1):c.439+10G>A rs201371037 0.00081
NM_000316.3(PTH1R):c.75+12G>A rs200603325 0.00081
NM_000393.5(COL5A2):c.2376A>C (p.Gly792=) rs35860166 0.00081
NM_001203.3(BMPR1B):c.671G>A (p.Arg224His) rs35973133 0.00081
NM_001235.3(SERPINH1):c.-189G>A rs185295615 0.00081
NM_001291867.2(NHS):c.4168G>A (p.Asp1390Asn) rs142186771 0.00081
NM_001358530.2(MOCS1):c.853G>A (p.Glu285Lys) rs140243105 0.00081
NM_001374828.1(ARID1B):c.5468A>G (p.Glu1823Gly) rs149841055 0.00081
NM_001379200.1(TBX1):c.90G>T (p.Leu30=) rs770754649 0.00081
NM_001999.4(FBN2):c.2427T>A (p.Ile809=) rs139686090 0.00081
NM_002272.4(KRT4):c.1318C>T (p.Arg440Cys) rs200484321 0.00081
NM_014423.4(AFF4):c.2308-13A>G rs189344130 0.00081
NM_015338.6(ASXL1):c.4098C>T (p.Ser1366=) rs143041800 0.00081
NM_016204.4(GDF2):c.346+10C>T rs117345807 0.00081
NM_018082.6(POLR3B):c.773A>C (p.Glu258Ala) rs117911920 0.00081
NM_152269.5(MTRFR):c.243C>T (p.Cys81=) rs140411575 0.00081
NM_152281.3(GORAB):c.*1217T>C rs77280970 0.00081
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247 0.00080
NM_000168.6(GLI3):c.1386G>A (p.Lys462=) rs150161845 0.00080
NM_000316.3(PTH1R):c.1305G>A (p.Thr435=) rs142921504 0.00080
NM_000489.6(ATRX):c.3281G>A (p.Cys1094Tyr) rs146521598 0.00080
NM_000501.4(ELN):c.259T>C (p.Phe87Leu) rs140411170 0.00080
NM_001101.5(ACTB):c.762G>C (p.Arg254=) rs145818896 0.00080
NM_001114753.3(ENG):c.-186G>A rs569618819 0.00080
NM_001114753.3(ENG):c.-54C>A rs2296702 0.00080
NM_001114753.3(ENG):c.617G>C (p.Gly206Ala) rs201393380 0.00080
NM_001130144.3(LTBP3):c.708C>A (p.Pro236=) rs373043487 0.00080
NM_001367624.2(ZNF469):c.2035G>A (p.Glu679Lys) rs551591362 0.00080
NM_001378615.1(CC2D2A):c.1017+7G>A rs137919504 0.00080
NM_001378615.1(CC2D2A):c.1956G>A (p.Pro652=) rs375131519 0.00080
NM_001382391.1(CSPP1):c.2539-12T>A rs185726462 0.00080
NM_001382391.1(CSPP1):c.924-11G>A rs149756527 0.00080
NM_002181.4(IHH):c.857C>T (p.Pro286Leu) rs140093604 0.00080
NM_005027.4(PIK3R2):c.10C>T (p.Pro4Ser) rs142933317 0.00080
NM_005045.4(RELN):c.4182A>G (p.Ser1394=) rs147496823 0.00080
NM_007373.4(SHOC2):c.-179T>A rs143180451 0.00080
NM_012431.3(SEMA3E):c.951C>G (p.Thr317=) rs201663991 0.00080
NM_014846.4(WASHC5):c.1605C>T (p.Ile535=) rs143654828 0.00080
NM_015443.4(KANSL1):c.800A>G (p.Lys267Arg) rs140181991 0.00080
NM_017617.5(NOTCH1):c.1440C>T (p.Pro480=) rs61751555 0.00080
NM_139057.4(ADAMTS17):c.*1859C>T rs79741636 0.00080
NM_000036.3(AMPD1):c.1122G>A (p.Lys374=) rs138993729 0.00079
NM_000287.4(PEX6):c.1491C>T (p.Ser497=) rs79238506 0.00079
NM_001042492.3(NF1):c.3270A>C (p.Gly1090=) rs150015024 0.00079
NM_001082538.3(TCTN1):c.341+11G>A rs188296885 0.00079
NM_001083962.2(TCF4):c.*1889T>G rs180957404 0.00079
NM_001130144.3(LTBP3):c.1064-10C>T rs202221935 0.00079
NM_001291415.2(KDM6A):c.1907C>T (p.Thr636Met) rs141353229 0.00079
NM_001371623.1(TCOF1):c.1120G>T (p.Ala374Ser) rs112039991 0.00079
NM_002334.4(LRP4):c.4951+13G>C rs367744491 0.00079
NM_002386.4(MC1R):c.453C>G (p.Arg151=) rs201827012 0.00079
NM_002465.4(MYBPC1):c.-13T>C rs368264809 0.00079
NM_003072.5(SMARCA4):c.3927C>T (p.His1309=) rs148495641 0.00079
NM_004260.4(RECQL4):c.2464-16G>A rs531951007 0.00079
NM_004456.5(EZH2):c.1506-19T>G rs199970231 0.00079
NM_005027.4(PIK3R2):c.1938C>T (p.Ile646=) rs146987351 0.00079
NM_005751.5(AKAP9):c.6508-20A>T rs374874284 0.00079
NM_012082.4(ZFPM2):c.1569G>C (p.Leu523=) rs920629 0.00079
NM_014846.4(WASHC5):c.732G>A (p.Pro244=) rs146320386 0.00079
NM_015338.6(ASXL1):c.1520T>A (p.Ile507Asn) rs138971201 0.00079
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys) rs79782048 0.00079
NM_020975.6(RET):c.1119G>A (p.Ala373=) rs113931414 0.00079
NM_023110.3(FGFR1):c.1098G>A (p.Pro366=) rs56174879 0.00079
NM_024312.5(GNPTAB):c.3516T>C (p.Tyr1172=) rs201592854 0.00079
NM_032043.3(BRIP1):c.2257+19A>C rs77851913 0.00079
NM_153603.4(COG7):c.1137+8C>T rs75523257 0.00079
NM_153717.3(EVC):c.1770C>T (p.Asp590=) rs141755737 0.00079
NM_000020.3(ACVRL1):c.313+40G>C rs376033978 0.00078
NM_000046.5(ARSB):c.1373A>G (p.Asn458Ser) rs144222167 0.00078
NM_000202.8(IDS):c.1181-13C>T rs188486717 0.00078
NM_000203.5(IDUA):c.234C>T (p.Gly78=) rs138932617 0.00078
NM_000238.4(KCNH2):c.*397T>C rs41312081 0.00078
NM_000238.4(KCNH2):c.2145+16C>T rs41314369 0.00078
NM_000528.4(MAN2B1):c.1230+9G>C rs367590716 0.00078
NM_000890.5(KCNJ5):c.1149C>T (p.Pro383=) rs143219149 0.00078
NM_001002755.4(NFU1):c.166+8T>A rs199927640 0.00078
NM_001104631.2(PDE4D):c.*3349T>A rs72764043 0.00078
NM_001174150.2(ARL13B):c.689+19T>C rs376881421 0.00078
NM_001360.3(DHCR7):c.1012G>A (p.Val338Met) rs72954276 0.00078
NM_001365902.3(NFIX):c.1078+20G>A rs202139307 0.00078
NM_001614.5(ACTG1):c.877C>T (p.Leu293=) rs143205514 0.00078
NM_002693.3(POLG):c.2853C>T (p.Tyr951=) rs41546712 0.00078
NM_002857.4(PEX19):c.564G>A (p.Leu188=) rs149058086 0.00078
NM_003482.4(KMT2D):c.9662C>A (p.Thr3221Asn) rs200601717 0.00078
NM_004387.4(NKX2-5):c.114G>A (p.Glu38=) rs151314714 0.00078
NM_005732.4(RAD50):c.3036+5G>A rs181016343 0.00078
NM_005982.4(SIX1):c.330G>A (p.Arg110=) rs73309461 0.00078
NM_006888.6(CALM1):c.178+18A>G rs201018787 0.00078
NM_012463.4(ATP6V0A2):c.1590C>T (p.Pro530=) rs80355657 0.00078
NM_014140.4(SMARCAL1):c.2528+15G>A rs200879397 0.00078
NM_014795.4(ZEB2):c.798G>C (p.Gly266=) rs34961586 0.00078
NM_016204.4(GDF2):c.1017C>T (p.Ile339=) rs148730910 0.00078
NM_017780.4(CHD7):c.7165-5A>G rs376076407 0.00078
NM_018475.5(TMEM165):c.433+15C>A rs370138167 0.00078
NM_022168.4(IFIH1):c.623-19C>G rs371045477 0.00078
NM_022336.4(EDAR):c.-189T>C rs569682476 0.00078
NM_025216.3(WNT10A):c.591C>T (p.Ala197=) rs367808568 0.00078
NM_032043.3(BRIP1):c.918+15T>A rs117820198 0.00078
NM_032444.4(SLX4):c.2786C>T (p.Pro929Leu) rs117707719 0.00078
NM_152564.5(VPS13B):c.5606C>T (p.Thr1869Met) rs117148013 0.00078
NM_153490.3(KRT13):c.409C>T (p.Arg137Cys) rs142183272 0.00078
NM_153603.4(COG7):c.1113C>T (p.Leu371=) rs114661874 0.00078
NM_170784.3(MKKS):c.-618C>T rs146473397 0.00078
NM_000089.4(COL1A2):c.2123G>A (p.Arg708Gln) rs72658163 0.00077
NM_000284.4(PDHA1):c.507G>A (p.Ala169=) rs141862527 0.00077
NM_000528.4(MAN2B1):c.1521G>T (p.Ala507=) rs143318498 0.00077
NM_001077418.3(TMEM231):c.471G>A (p.Ala157=) rs375273015 0.00077
NM_001114753.3(ENG):c.392C>T (p.Pro131Leu) rs139398993 0.00077
NM_001122681.2(SH3BP2):c.*6705C>T rs193099027 0.00077
NM_001354604.2(MITF):c.1031+14C>T rs201353723 0.00077
NM_001453.3(FOXC1):c.1650T>C (p.Cys550=) rs147749489 0.00077
NM_001931.5(DLAT):c.506+11C>T rs77846695 0.00077
NM_002334.4(LRP4):c.1005C>T (p.Asn335=) rs141757569 0.00077
NM_003482.4(KMT2D):c.6621G>A (p.Ala2207=) rs199896881 0.00077
NM_003924.4(PHOX2B):c.832G>A (p.Gly278Ser) rs138545772 0.00077
NM_004415.4(DSP):c.8605A>G (p.Ile2869Val) rs28763971 0.00077
NM_020964.3(EPG5):c.5869+18C>T rs202231195 0.00077
NM_021625.5(TRPV4):c.*190C>T rs141636597 0.00077
NM_022458.4(LMBR1):c.*2065A>G rs146931391 0.00077
NM_022458.4(LMBR1):c.843G>A (p.Arg281=) rs140806590 0.00077
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=) rs148058006 0.00077
NM_133433.4(NIPBL):c.6057C>T (p.Leu2019=) rs140907869 0.00077
NM_152564.5(VPS13B):c.9094G>T (p.Asp3032Tyr) rs140095832 0.00077
NM_153603.4(COG7):c.319-12C>T rs201965984 0.00077
NM_000168.6(GLI3):c.4005G>A (p.Pro1335=) rs149860242 0.00076
NM_000214.3(JAG1):c.1349-11T>G rs80338240 0.00076
NM_000256.3(MYBPC3):c.3392T>C (p.Ile1131Thr) rs370890951 0.00076
NM_000256.3(MYBPC3):c.649A>G (p.Ser217Gly) rs138753870 0.00076
NM_000264.5(PTCH1):c.3387C>T (p.Gly1129=) rs28446339 0.00076
NM_000280.4(PAX6):c.*3428C>T rs191399467 0.00076
NM_000335.5(SCN5A):c.*1284G>A rs41310755 0.00076
NM_000393.5(COL5A2):c.3098C>T (p.Pro1033Leu) rs75542756 0.00076
NM_001114753.3(ENG):c.234G>A (p.Leu78=) rs115675061 0.00076
NM_001114753.3(ENG):c.816+12G>A rs115316938 0.00076
NM_001347721.2(DYRK1A):c.1071+15G>A rs374505179 0.00076
NM_001382391.1(CSPP1):c.3470-20G>T rs148896413 0.00076
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=) rs146662880 0.00076
NM_002334.4(LRP4):c.141C>G (p.Ala47=) rs543418199 0.00076
NM_002334.4(LRP4):c.387C>T (p.Cys129=) rs80333596 0.00076
NM_003036.4(SKI):c.417C>T (p.Ile139=) rs144874401 0.00076
NM_003482.4(KMT2D):c.3737C>T (p.Thr1246Met) rs112921115 0.00076
NM_004168.4(SDHA):c.1260+13G>T rs185239026 0.00076
NM_005027.4(PIK3R2):c.1416+15G>A rs202218011 0.00076
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr) rs146517083 0.00076
NM_005908.4(MANBA):c.2246T>A (p.Leu749His) rs142248415 0.00076
NM_006015.6(ARID1A):c.373G>A (p.Gly125Ser) rs536658556 0.00076
NM_013275.6(ANKRD11):c.4884C>T (p.Asp1628=) rs144721281 0.00076
NM_015338.6(ASXL1):c.2059T>C (p.Cys687Arg) rs140197482 0.00076
NM_015631.6(TCTN3):c.500-6T>C rs201444392 0.00076
NM_017780.4(CHD7):c.3202-5T>C rs147994149 0.00076
NM_025114.4(CEP290):c.6646-16T>C rs367543543 0.00076
NM_025132.4(WDR19):c.3261+12G>A rs137960733 0.00076
NM_025215.6(PUS1):c.1008G>A (p.Glu336=) rs145430883 0.00076
NM_030632.3(ASXL3):c.514T>C (p.Ser172Pro) rs201872027 0.00076
NM_030662.4(MAP2K2):c.498C>T (p.Pro166=) rs139404261 0.00076
NM_032043.3(BRIP1):c.195A>G (p.Gln65=) rs141436143 0.00076
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp) rs145855459 0.00076
NM_133433.4(NIPBL):c.2349A>G (p.Lys783=) rs141851878 0.00076
NM_145068.4(TRPV3):c.*186G>A rs375326175 0.00076
NM_000079.4(CHRNA1):c.189+12G>A rs201168898 0.00075
NM_000124.4(ERCC6):c.2875G>T (p.Val959Leu) rs190863815 0.00075
NM_000233.4(LHCGR):c.1953T>C (p.Tyr651=) rs61996315 0.00075
NM_000288.4(PEX7):c.339+10A>G rs374668045 0.00075
NM_000348.4(SRD5A2):c.502C>T (p.Arg168Cys) rs374399753 0.00075
NM_000489.6(ATRX):c.2540T>C (p.Phe847Ser) rs45624939 0.00075
NM_001018115.3(FANCD2):c.78A>C (p.Gln26His) rs45510294 0.00075
NM_001114753.3(ENG):c.-158C>T rs41470844 0.00075
NM_001291867.2(NHS):c.2093G>A (p.Arg698Gln) rs140904281 0.00075
NM_001360.3(DHCR7):c.1018G>A (p.Val340Ile) rs148081697 0.00075
NM_001368894.2(PAX6):c.873G>A (p.Gln291=) rs149053004 0.00075
NM_001374353.1(GLI2):c.1533C>T (p.Thr511=) rs137960978 0.00075
NM_002010.3(FGF9):c.-712C>T rs376388740 0.00075
NM_002618.4(PEX13):c.141A>G (p.Ala47=) rs79842991 0.00075
NM_004168.4(SDHA):c.1002G>A (p.Ala334=) rs144252500 0.00075
NM_004531.5(MOCS2):c.229A>G (p.Thr77Ala) rs2233215 0.00075
NM_005359.6(SMAD4):c.*2914C>T rs147352474 0.00075
NM_017780.4(CHD7):c.7313A>C (p.Gln2438Pro) rs754894988 0.00075
NM_207346.3(TSEN54):c.1368C>T (p.Asp456=) rs138560086 0.00075
NM_000136.3(FANCC):c.816C>T (p.Ile272=) rs55719336 0.00074
NM_000193.4(SHH):c.1078C>T (p.Leu360=) rs191903572 0.00074
NM_000316.3(PTH1R):c.313+4C>T rs200207404 0.00074
NM_000428.3(LTBP2):c.4911C>T (p.Asn1637=) rs12586758 0.00074
NM_001291867.2(NHS):c.3929G>T (p.Gly1310Val) rs41304731 0.00074
NM_003482.4(KMT2D):c.1259-13G>A rs373466438 0.00074
NM_004393.6(DAG1):c.2520T>C (p.Thr840=) rs149564053 0.00074
NM_004531.5(MOCS2):c.*735G>A rs144697442 0.00074
NM_005188.4(CBL):c.1641T>C (p.Pro547=) rs61755280 0.00074
NM_012293.3(PXDN):c.969C>T (p.Ala323=) rs61746899 0.00074
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met) rs187473846 0.00074
NM_024312.5(GNPTAB):c.1986G>A (p.Ala662=) rs112000802 0.00074
NM_024996.7(GFM1):c.*731C>T rs189114088 0.00074
NM_058216.3(RAD51C):c.146-8A>G rs201079501 0.00074
NM_152564.5(VPS13B):c.2704A>G (p.Lys902Glu) rs149531438 0.00074
NM_000088.4(COL1A1):c.2595C>T (p.Arg865=) rs117672175 0.00073
NM_000093.5(COL5A1):c.*865T>A rs910306671 0.00073
NM_000302.4(PLOD1):c.976-16C>T rs142329815 0.00073
NM_000393.5(COL5A2):c.2931+11C>T rs184002749 0.00073
NM_000501.4(ELN):c.1232T>G (p.Val411Gly) rs200180992 0.00073
NM_000501.4(ELN):c.212C>T (p.Ala71Val) rs41350445 0.00073
NM_000891.3(KCNJ2):c.1065T>G (p.Leu355=) rs139564374 0.00073
NM_001010867.4(IBA57):c.210G>C (p.Leu70=) rs199589485 0.00073
NM_001114753.3(ENG):c.219+22C>T rs370257876 0.00073
NM_001291415.2(KDM6A):c.3335A>T (p.His1112Leu) rs141303384 0.00073
NM_001370259.2(MEN1):c.-22C>A rs374749001 0.00073
NM_001371623.1(TCOF1):c.3604-14A>G rs373075669 0.00073
NM_001374353.1(GLI2):c.1080G>A (p.Ser360=) rs149110951 0.00073
NM_001374353.1(GLI2):c.3979C>T (p.Leu1327=) rs149290823 0.00073
NM_001379286.1(ZNF423):c.1560C>T (p.Asp520=) rs149371639 0.00073
NM_003070.5(SMARCA2):c.4440G>A (p.Thr1480=) rs184913034 0.00073
NM_004387.4(NKX2-5):c.61G>C (p.Glu21Gln) rs104893904 0.00073
NM_004525.3(LRP2):c.3311A>G (p.His1104Arg) rs144906000 0.00073
NM_005445.4(SMC3):c.276T>C (p.Asp92=) rs199936534 0.00073
NM_005629.4(SLC6A8):c.603C>T (p.Asp201=) rs143019641 0.00073
NM_014423.4(AFF4):c.830G>C (p.Ser277Thr) rs141068875 0.00073
NM_017617.5(NOTCH1):c.1962C>T (p.Thr654=) rs61751554 0.00073
NM_020436.5(SALL4):c.349G>A (p.Gly117Arg) rs77538589 0.00073
NM_020779.4(WDR35):c.853A>T (p.Ile285Phe) rs200059077 0.00073
NM_024757.5(EHMT1):c.251G>A (p.Gly84Asp) rs142887098 0.00073
NM_152383.5(DIS3L2):c.1447C>G (p.Arg483Gly) rs186865544 0.00073
NM_152383.5(DIS3L2):c.263C>T (p.Pro88Leu) rs202059499 0.00073
NM_152564.5(VPS13B):c.3656C>G (p.Ser1219Cys) rs149478021 0.00073
NM_152594.3(SPRED1):c.207+15A>G rs377288061 0.00073
NM_182760.4(SUMF1):c.128C>T (p.Ala43Val) rs200789939 0.00073
NM_198859.4(PRICKLE2):c.145-4T>G rs375489210 0.00073
NM_207361.6(FREM2):c.4916G>A (p.Arg1639Lys) rs77886481 0.00073
NM_000089.4(COL1A2):c.1971+18T>C rs41317174 0.00072
NM_000135.4(FANCA):c.4332T>G (p.Pro1444=) rs149531696 0.00072
NM_000202.8(IDS):c.884A>G (p.Lys295Arg) rs113993953 0.00072
NM_000264.5(PTCH1):c.3805-9C>T rs2236404 0.00072
NM_000431.4(MVK):c.*660G>A rs142493947 0.00072
NM_000528.4(MAN2B1):c.2409C>T (p.Ser803=) rs147850230 0.00072
NM_001083614.2(EARS2):c.*1233C>T rs118168979 0.00072
NM_001083962.2(TCF4):c.*2660A>G rs140356463 0.00072
NM_001122681.2(SH3BP2):c.1686A>G (p.Ter562Trp) rs190648042 0.00072
NM_001267550.2(TTN):c.82081C>G (p.Pro27361Ala) rs56137800 0.00072
NM_001378964.1(CDON):c.350-11A>G rs199981607 0.00072
NM_001429.4(EP300):c.2576T>C (p.Ile859Thr) rs145714752 0.00072
NM_004273.5(CHST3):c.1251G>C (p.Thr417=) rs140411224 0.00072
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn) rs117209107 0.00072
NM_005360.5(MAF):c.433G>A (p.Gly145Ser) rs550438083 0.00072
NM_017777.4(MKS1):c.749+13A>G rs199550514 0.00072
NM_023110.3(FGFR1):c.*1770G>A rs183394116 0.00072
NM_152383.5(DIS3L2):c.1911A>C (p.Ala637=) rs563679311 0.00072
NM_152383.5(DIS3L2):c.410A>G (p.Tyr137Cys) rs201733073 0.00072
NM_153490.3(KRT13):c.766G>A (p.Gly256Ser) rs140780704 0.00072
NM_153704.6(TMEM67):c.2241+15A>G rs201043898 0.00072
NM_000089.4(COL1A2):c.1405-16A>G rs73428205 0.00071
NM_000093.5(COL5A1):c.1998C>T (p.Asp666=) rs143858735 0.00071
NM_000165.5(GJA1):c.*119T>C rs72548742 0.00071
NM_000346.4(SOX9):c.531G>A (p.Arg177=) rs144824678 0.00071
NM_001104631.2(PDE4D):c.*831A>C rs369129936 0.00071
NM_001354604.2(MITF):c.*379T>C rs552044239 0.00071
NM_001371623.1(TCOF1):c.1590G>A (p.Gly530=) rs145539529 0.00071
NM_001374828.1(ARID1B):c.2548G>A (p.Ala850Thr) rs147784000 0.00071
NM_003482.4(KMT2D):c.11583A>G (p.Gln3861=) rs878924583 0.00071
NM_004370.6(COL12A1):c.2711-15T>C rs74331327 0.00071
NM_004370.6(COL12A1):c.7140G>A (p.Thr2380=) rs200230227 0.00071
NM_004370.6(COL12A1):c.997+14G>A rs201998466 0.00071
NM_004836.7(EIF2AK3):c.2014G>A (p.Glu672Lys) rs35226268 0.00071
NM_005045.4(RELN):c.8944G>A (p.Asp2982Asn) rs148509350 0.00071
NM_005732.4(RAD50):c.885+11G>A rs117081789 0.00071
NM_006270.5(RRAS):c.453+20C>T rs117957448 0.00071
NM_013275.6(ANKRD11):c.1027G>A (p.Val343Ile) rs147744268 0.00071
NM_014141.6(CNTNAP2):c.2205C>A (p.Asn735Lys) rs200610099 0.00071
NM_021625.5(TRPV4):c.2472G>A (p.Ser824=) rs149988106 0.00071
NM_023110.3(FGFR1):c.1855-16C>T rs371160786 0.00071
NM_025216.3(WNT10A):c.637G>A (p.Gly213Ser) rs147680216 0.00071
NM_000183.3(HADHB):c.246A>G (p.Ala82=) rs151302743 0.00070
NM_000393.5(COL5A2):c.3364-17C>T rs201720941 0.00070
NM_000891.3(KCNJ2):c.213C>T (p.Asp71=) rs150671256 0.00070
NM_001001433.3(STX16):c.*1886T>C rs150647186 0.00070
NM_001018115.3(FANCD2):c.577A>G (p.Thr193Ala) rs34936017 0.00070
NM_001122681.2(SH3BP2):c.1241+20G>T rs371677381 0.00070
NM_001429.4(EP300):c.1519A>G (p.Ser507Gly) rs146242251 0.00070
NM_001753.5(CAV1):c.30+20C>T rs34592877 0.00070
NM_004239.4(TRIP11):c.5057-9T>G rs372161255 0.00070
NM_004260.4(RECQL4):c.1868G>A (p.Arg623His) rs201734382 0.00070
NM_004370.6(COL12A1):c.8941+18C>T rs368092763 0.00070
NM_004380.3(CREBBP):c.1216+20C>A rs200567815 0.00070
NM_004380.3(CREBBP):c.3698+7G>A rs374345970 0.00070
NM_004821.3(HAND1):c.180G>A (p.Gly60=) rs369386099 0.00070
NM_005359.6(SMAD4):c.*6009G>C rs181250637 0.00070
NM_005529.7(HSPG2):c.11671+5G>A rs77527456 0.00070
NM_005629.4(SLC6A8):c.1142-19G>A rs77129489 0.00070
NM_013275.6(ANKRD11):c.2519G>A (p.Arg840Gln) rs149776253 0.00070
NM_015443.4(KANSL1):c.1938C>T (p.Pro646=) rs371047711 0.00070
NM_017617.5(NOTCH1):c.3401A>G (p.Gln1134Arg) rs374230681 0.00070
NM_017617.5(NOTCH1):c.5500C>T (p.Leu1834=) rs73668312 0.00070
NM_018082.6(POLR3B):c.-106A>G rs560914710 0.00070
NM_018451.5(CPAP):c.2806A>G (p.Ser936Gly) rs75008861 0.00070
NM_020184.4(CNNM4):c.*560T>C rs74411759 0.00070
NM_145068.4(TRPV3):c.1654G>A (p.Val552Met) rs150743616 0.00070
NM_152564.5(VPS13B):c.6416A>G (p.Asn2139Ser) rs142248228 0.00070
NM_152594.3(SPRED1):c.939G>A (p.Thr313=) rs140644874 0.00070
NM_000052.7(ATP7A):c.1009G>A (p.Ala337Thr) rs138039591 0.00069
NM_000090.3(COL3A1):c.-118T>G rs549951495 0.00069
NM_000393.5(COL5A2):c.2787G>A (p.Ala929=) rs151027388 0.00069
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu) rs139717960 0.00069
NM_000503.6(EYA1):c.782C>T (p.Pro261Leu) rs77825059 0.00069
NM_000553.6(WRN):c.3237G>A (p.Ser1079=) rs11574345 0.00069
NM_001042492.3(NF1):c.*971T>A rs147515257 0.00069
NM_001106.4(ACVR2B):c.*483C>T rs189885640 0.00069
NM_001291867.2(NHS):c.1965T>G (p.Pro655=) rs151009077 0.00069
NM_001291867.2(NHS):c.204A>G (p.Pro68=) rs775588477 0.00069
NM_001354604.2(MITF):c.*228C>T rs190540926 0.00069
NM_002386.4(MC1R):c.247T>C (p.Ser83Pro) rs34474212 0.00069
NM_004380.3(CREBBP):c.383C>G (p.Ser128Cys) rs55790011 0.00069
NM_005413.4(SIX3):c.348C>T (p.Pro116=) rs573768953 0.00069
NM_005660.3(SLC35A2):c.990C>T (p.Leu330=) rs146079657 0.00069
NM_006767.4(LZTR1):c.453C>T (p.Asp151=) rs142421078 0.00069
NM_006796.3(AFG3L2):c.793G>A (p.Ala265Thr) rs149605021 0.00069
NM_007059.4(KPTN):c.733C>G (p.Leu245Val) rs201474471 0.00069
NM_012431.3(SEMA3E):c.738C>A (p.Phe246Leu) rs192697566 0.00069
NM_015338.6(ASXL1):c.1898A>G (p.His633Arg) rs201280462 0.00069
NM_017617.5(NOTCH1):c.3384G>A (p.Thr1128=) rs200608278 0.00069
NM_022455.5(NSD1):c.1980C>T (p.Asn660=) rs140072393 0.00069
NM_022458.4(LMBR1):c.16G>A (p.Glu6Lys) rs139646169 0.00069
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=) rs4987050 0.00069
NM_000071.3(CBS):c.636C>T (p.Asn212=) rs2298758 0.00068
NM_000475.5(NR0B1):c.376G>A (p.Val126Met) rs193205940 0.00068
NM_001018113.3(FANCB):c.*33T>C rs187611308 0.00068
NM_001127671.2(LIFR):c.3039G>C (p.Val1013=) rs754819659 0.00068
NM_001130144.3(LTBP3):c.2353+14C>T rs368828977 0.00068
NM_001278716.2(FBXL4):c.468T>C (p.Ala156=) rs114916821 0.00068
NM_001358530.2(MOCS1):c.870+19G>A rs370411582 0.00068
NM_001429.4(EP300):c.4599C>G (p.Thr1533=) rs143885808 0.00068
NM_001429.4(EP300):c.5271C>T (p.Ser1757=) rs138917060 0.00068
NM_001999.4(FBN2):c.436+16G>A rs372098570 0.00068
NM_003070.5(SMARCA2):c.4699G>C (p.Val1567Leu) rs144110632 0.00068
NM_003477.3(PDHX):c.-23C>A rs201033364 0.00068
NM_004064.5(CDKN1B):c.165G>A (p.Ala55=) rs16908375 0.00068
NM_004333.6(BRAF):c.1332G>A (p.Arg444=) rs56101602 0.00068
NM_006015.6(ARID1A):c.162C>T (p.Ala54=) rs1001634270 0.00068
NM_006265.3(RAD21):c.1471-11A>G rs112473657 0.00068
NM_013275.6(ANKRD11):c.1842C>T (p.Ser614=) rs764479350 0.00068
NM_014140.4(SMARCAL1):c.1850G>T (p.Arg617Leu) rs199805996 0.00068
NM_014780.5(CUL7):c.1982G>A (p.Arg661Gln) rs139887350 0.00068
NM_017617.5(NOTCH1):c.1669+15C>T rs576849563 0.00068
NM_020779.4(WDR35):c.1401-15T>G rs201903683 0.00068
NM_020975.6(RET):c.1465G>A (p.Asp489Asn) rs9282834 0.00068
NM_022168.4(IFIH1):c.2898+17G>A rs145381408 0.00068
NM_022552.5(DNMT3A):c.2151C>T (p.Asn717=) rs141216815 0.00068
NM_024809.5(TCTN2):c.888G>A (p.Pro296=) rs116845100 0.00068
NM_130837.3(OPA1):c.254G>A (p.Arg85His) rs35630194 0.00068
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00068
NM_152564.5(VPS13B):c.8570C>T (p.Pro2857Leu) rs145890213 0.00068
NM_181523.3(PIK3R1):c.334+12T>C rs189754791 0.00068
NM_000089.4(COL1A2):c.3585T>C (p.Cys1195=) rs1800253 0.00067
NM_000238.4(KCNH2):c.1353G>A (p.Pro451=) rs763446458 0.00067
NM_000264.5(PTCH1):c.3633C>G (p.Pro1211=) rs56007343 0.00067
NM_000287.4(PEX6):c.853C>G (p.Pro285Ala) rs61753220 0.00067
NM_000503.6(EYA1):c.648G>A (p.Pro216=) rs148973681 0.00067
NM_001018115.3(FANCD2):c.2269+12A>G rs34751191 0.00067
NM_001083962.2(TCF4):c.269A>G (p.Asn90Ser) rs143244149 0.00067
NM_001151.4(SLC25A4):c.-103C>T rs190592847 0.00067
NM_001276345.2(TNNT2):c.98-81G>A rs45576939 0.00067
NM_001374828.1(ARID1B):c.3072G>C (p.Ala1024=) rs148749268 0.00067
NM_001999.4(FBN2):c.*119C>T rs3805618 0.00067
NM_001999.4(FBN2):c.132G>C (p.Pro44=) rs199702573 0.00067
NM_002470.4(MYH3):c.736-6A>G rs372079063 0.00067
NM_003098.3(SNTA1):c.440C>A (p.Thr147Asn) rs141724500 0.00067
NM_003334.4(UBA1):c.648A>G (p.Pro216=) rs146676571 0.00067
NM_004370.6(COL12A1):c.6062G>A (p.Arg2021Gln) rs34438461 0.00067
NM_014795.4(ZEB2):c.2206A>G (p.Met736Val) rs139191491 0.00067
NM_020529.3(NFKBIA):c.-41G>A rs540282095 0.00067
NM_020699.4(GATAD2B):c.852T>C (p.Leu284=) rs149608942 0.00067
NM_153717.3(EVC):c.2322G>C (p.Ala774=) rs150373930 0.00067
NM_000052.7(ATP7A):c.4390A>G (p.Ile1464Val) rs2234938 0.00066
NM_000088.4(COL1A1):c.3099+7T>C rs201682029 0.00066
NM_000093.5(COL5A1):c.252C>T (p.Ser84=) rs151293601 0.00066
NM_000168.6(GLI3):c.1647+13G>A rs149955824 0.00066
NM_000199.5(SGSH):c.1428C>T (p.His476=) rs139460639 0.00066
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275 0.00066
NM_000368.5(TSC1):c.*358C>T rs147729052 0.00066
NM_000393.5(COL5A2):c.186T>C (p.Cys62=) rs142832916 0.00066
NM_000404.4(GLB1):c.1833G>A (p.Ser611=) rs201755284 0.00066
NM_000466.3(PEX1):c.645C>G (p.Thr215=) rs151041559 0.00066
NM_000501.4(ELN):c.326-20C>T rs200397639 0.00066
NM_001015880.2(PAPSS2):c.267C>T (p.Leu89=) rs144784084 0.00066
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_001082538.3(TCTN1):c.488C>A (p.Ser163Tyr) rs117896500 0.00066
NM_001083962.2(TCF4):c.944C>T (p.Ala315Val) rs147445499 0.00066
NM_001127671.2(LIFR):c.2578C>T (p.Arg860Trp) rs146205670 0.00066
NM_001148.6(ANK2):c.11694+19T>A rs114122425 0.00066
NM_001271938.2(MEGF8):c.495G>C (p.Gly165=) rs146885610 0.00066
NM_001378964.1(CDON):c.2139T>C (p.Asp713=) rs144874246 0.00066
NM_003052.5(SLC34A1):c.1172C>T (p.Thr391Met) rs143201338 0.00066
NM_003052.5(SLC34A1):c.782G>A (p.Arg261His) rs144306414 0.00066
NM_003072.5(SMARCA4):c.223-5C>T rs376775933 0.00066
NM_003172.4(SURF1):c.54+9C>G rs587675928 0.00066
NM_003384.3(VRK1):c.1020C>T (p.Asp340=) rs147853760 0.00066
NM_003738.5(PTCH2):c.1083+3C>T rs557532187 0.00066
NM_003738.5(PTCH2):c.1596C>T (p.Ala532=) rs140921885 0.00066
NM_004565.3(PEX14):c.1116C>T (p.Asn372=) rs149856184 0.00066
NM_005633.4(SOS1):c.3391+7A>G rs201982464 0.00066
NM_005921.2(MAP3K1):c.381G>T (p.Ser127=) rs1053991933 0.00066
NM_012082.4(ZFPM2):c.1578G>T (p.Arg526=) rs200643137 0.00066
NM_012293.3(PXDN):c.1656C>T (p.Pro552=) rs200276592 0.00066
NM_014244.5(ADAMTS2):c.1883G>A (p.Arg628His) rs140621260 0.00066
NM_014780.5(CUL7):c.4323C>T (p.Gly1441=) rs148472550 0.00066
NM_018026.4(PACS1):c.1731+18G>A rs560600114 0.00066
NM_020529.3(NFKBIA):c.*99T>A rs529984279 0.00066
NM_020937.4(FANCM):c.990A>G (p.Thr330=) rs138677111 0.00066
NM_033159.4(HYAL1):c.745C>T (p.Pro249Ser) rs138951582 0.00066
NM_133259.4(LRPPRC):c.-11A>G rs188424940 0.00066
NM_000093.5(COL5A1):c.3115-14G>A rs368945793 0.00065
NM_000183.3(HADHB):c.900C>T (p.Tyr300=) rs144093705 0.00065
NM_000264.5(PTCH1):c.2787C>T (p.Asn929=) rs145196322 0.00065
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu) rs142994610 0.00065
NM_001080432.3(FTO):c.400G>A (p.Ala134Thr) rs79206939 0.00065
NM_001101.5(ACTB):c.1107C>T (p.Ile369=) rs71531321 0.00065
NM_001122630.2(CDKN1C):c.702G>A (p.Gly234=) rs556682082 0.00065
NM_001347721.2(DYRK1A):c.1213-7C>T rs199867876 0.00065
NM_001368894.2(PAX6):c.*891G>A rs530259403 0.00065
NM_001378964.1(CDON):c.*2264C>T rs185017679 0.00065
NM_004260.4(RECQL4):c.85-13G>T rs568000575 0.00065
NM_004370.6(COL12A1):c.190+14C>G rs536848485 0.00065
NM_005529.7(HSPG2):c.12256C>T (p.Arg4086Trp) rs146179360 0.00065
NM_005529.7(HSPG2):c.3794-3C>A rs141000672 0.00065
NM_005751.5(AKAP9):c.6696A>G (p.Gln2232=) rs147194783 0.00065
NM_006767.4(LZTR1):c.1353+8C>G rs75959644 0.00065
NM_015375.3(DSTYK):c.86G>A (p.Arg29Gln) rs200780796 0.00065
NM_017777.4(MKS1):c.1024+13C>G rs374632643 0.00065
NM_018006.5(TRMU):c.75G>T (p.Arg25Ser) rs2272938 0.00065
NM_022114.4(PRDM16):c.2634C>T (p.Pro878=) rs201338158 0.00065
NM_024665.7(TBL1XR1):c.1251-8T>A rs148654942 0.00065
NM_025132.4(WDR19):c.3416A>G (p.Gln1139Arg) rs75621037 0.00065
NM_025136.4(OPA3):c.*698G>A rs561748985 0.00065
NM_030662.4(MAP2K2):c.1093-6T>C rs369681843 0.00065
NM_032444.4(SLX4):c.5259C>T (p.Asp1753=) rs144776083 0.00065
NM_138959.3(VANGL1):c.1050T>C (p.His350=) rs147220426 0.00065
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser) rs147936946 0.00064
NM_000135.4(FANCA):c.2364C>T (p.Ala788=) rs149754397 0.00064
NM_000138.5(FBN1):c.*779C>T rs113200355 0.00064
NM_000257.4(MYH7):c.4005G>A (p.Ser1335=) rs144465613 0.00064
NM_001005498.4(RHBDF2):c.-272C>A rs551777579 0.00064
NM_001127671.2(LIFR):c.1915A>T (p.Met639Leu) rs143808825 0.00064
NM_001148.6(ANK2):c.261G>A (p.Gly87=) rs145502481 0.00064
NM_001203.3(BMPR1B):c.1065T>A (p.Val355=) rs139872191 0.00064
NM_001367561.1(DOCK7):c.2859+17dup rs559908969 0.00064
NM_001374828.1(ARID1B):c.1191C>A (p.Gly397=) rs184815562 0.00064
NM_001379200.1(TBX1):c.348G>A (p.Val116=) rs148928907 0.00064
NM_002397.5(MEF2C):c.811-12G>A rs149706617 0.00064
NM_002834.5(PTPN11):c.526-8C>A rs184804143 0.00064
NM_003036.4(SKI):c.1308C>T (p.Ala436=) rs139034124 0.00064
NM_004064.5(CDKN1B):c.543C>G (p.Ala181=) rs140177202 0.00064
NM_004260.4(RECQL4):c.1621-8A>G rs373357384 0.00064
NM_004380.3(CREBBP):c.4494A>G (p.Arg1498=) rs149560660 0.00064
NM_005445.4(SMC3):c.3495T>A (p.Ala1165=) rs142395521 0.00064
NM_005751.5(AKAP9):c.3223T>C (p.Leu1075=) rs143712699 0.00064
NM_006918.5(SC5D):c.*3472A>G rs138274984 0.00064
NM_012186.3(FOXE3):c.929G>A (p.Gly310Asp) rs571095192 0.00064
NM_012463.4(ATP6V0A2):c.*1122A>G rs3827881 0.00064
NM_013275.6(ANKRD11):c.136G>A (p.Asp46Asn) rs144947610 0.00064
NM_013275.6(ANKRD11):c.2292G>A (p.Glu764=) rs149626938 0.00064
NM_017617.5(NOTCH1):c.7536G>A (p.Pro2512=) rs192299793 0.00064
NM_022552.5(DNMT3A):c.72+10G>A rs370534287 0.00064
NM_133433.4(NIPBL):c.2727T>C (p.Gly909=) rs148394805 0.00064
NM_133459.4(CCBE1):c.499C>T (p.Arg167Trp) rs116675104 0.00064
NM_170665.4(ATP2A2):c.2202G>A (p.Leu734=) rs12312588 0.00064
NM_000020.3(ACVRL1):c.207C>T (p.Cys69=) rs56080682 0.00063
NM_000165.5(GJA1):c.*498G>A rs575593821 0.00063
NM_000202.8(IDS):c.396G>A (p.Ser132=) rs147108245 0.00063
NM_000238.4(KCNH2):c.982C>T (p.Arg328Cys) rs199473505 0.00063
NM_000262.3(NAGA):c.760-7C>A rs150693978 0.00063
NM_000263.4(NAGLU):c.1983G>A (p.Lys661=) rs181021573 0.00063
NM_000264.5(PTCH1):c.2913T>C (p.Tyr971=) rs2229062 0.00063
NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly) rs779791579 0.00063
NM_000719.7(CACNA1C):c.1359C>T (p.Asp453=) rs200330469 0.00063
NM_001018115.3(FANCD2):c.1833C>T (p.Thr611=) rs181219364 0.00063
NM_001018115.3(FANCD2):c.3446C>T (p.Ala1149Val) rs147675860 0.00063
NM_001042492.3(NF1):c.3198-3dup rs1555614816 0.00063
NM_001106.4(ACVR2B):c.1140C>T (p.Ala380=) rs149695736 0.00063
NM_001113378.2(FANCI):c.286G>A (p.Glu96Lys) rs149243307 0.00063
NM_001127649.3(PEX26):c.643G>A (p.Glu215Lys) rs138232280 0.00063
NM_001369268.1(ACAN):c.1210A>G (p.Ile404Val) rs148070768 0.00063
NM_001379200.1(TBX1):c.840C>T (p.Thr280=) rs61730282 0.00063
NM_001386795.1(DTNA):c.2178A>C (p.Ala726=) rs145486636 0.00063
NM_001386795.1(DTNA):c.92G>A (p.Arg31Gln) rs202046233 0.00063
NM_001999.4(FBN2):c.7841-16G>T rs201231807 0.00063
NM_002010.3(FGF9):c.*1411T>C rs181623879 0.00063
NM_002470.4(MYH3):c.3612T>C (p.Leu1204=) rs146773743 0.00063
NM_003098.3(SNTA1):c.497-7C>T rs116972153 0.00063
NM_003482.4(KMT2D):c.15540G>C (p.Val5180=) rs149393179 0.00063
NM_003849.4(SUCLG1):c.202-4T>C rs141973418 0.00063
NM_004304.5(ALK):c.932G>A (p.Arg311His) rs150966028 0.00063
NM_004380.3(CREBBP):c.4133+9G>A rs376602227 0.00063
NM_005629.4(SLC6A8):c.777+4C>T rs201581661 0.00063
NM_006270.5(RRAS):c.243C>T (p.Ile81=) rs116683551 0.00063
NM_007059.4(KPTN):c.452T>C (p.Val151Ala) rs201572880 0.00063
NM_012293.3(PXDN):c.1347C>T (p.Thr449=) rs184142208 0.00063
NM_014244.5(ADAMTS2):c.596C>T (p.Ala199Val) rs76704342 0.00063
NM_014780.5(CUL7):c.4898C>T (p.Thr1633Met) rs139249497 0.00063
NM_015272.5(RPGRIP1L):c.3624C>T (p.Tyr1208=) rs138724933 0.00063
NM_017617.5(NOTCH1):c.3115G>A (p.Gly1039Ser) rs200207651 0.00063
NM_022114.4(PRDM16):c.2406G>A (p.Pro802=) rs368750536 0.00063
NM_024757.5(EHMT1):c.363C>T (p.Gly121=) rs144352877 0.00063
NM_030665.4(RAI1):c.3650G>A (p.Arg1217Gln) rs142415050 0.00063
NM_080647.1(TBX1):c.-39C>T rs72646950 0.00063
NM_139125.4(MASP1):c.1091-11T>C rs201073458 0.00063
NM_145068.4(TRPV3):c.415C>T (p.Leu139=) rs150701364 0.00063
NM_152419.3(HGSNAT):c.680A>T (p.Gln227Leu) rs200505085 0.00063
NM_000093.5(COL5A1):c.2031G>A (p.Glu677=) rs61737719 0.00062
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114 0.00062
NM_000719.7(CACNA1C):c.1707A>G (p.Ala569=) rs375534041 0.00062
NM_001330078.2(NRXN1):c.1945A>G (p.Ile649Val) rs200074974 0.00062
NM_001429.4(EP300):c.94+13A>G rs201124490 0.00062
NM_002485.5(NBN):c.441C>T (p.Cys147=) rs137857529 0.00062
NM_003289.4(TPM2):c.563+17G>A rs201633747 0.00062
NM_003482.4(KMT2D):c.3373C>T (p.Leu1125=) rs190643171 0.00062
NM_004260.4(RECQL4):c.3009G>A (p.Val1003=) rs34919378 0.00062
NM_005045.4(RELN):c.5615-12T>C rs375680075 0.00062
NM_006121.4(KRT1):c.-21C>T rs189087382 0.00062
NM_014795.4(ZEB2):c.2205T>C (p.Pro735=) rs149964599 0.00062
NM_017617.5(NOTCH1):c.6363C>T (p.Ser2121=) rs61751533 0.00062
NM_020964.3(EPG5):c.4134A>G (p.Glu1378=) rs200489622 0.00062
NM_025114.4(CEP290):c.3574-3C>G rs781450470 0.00062
NM_025216.3(WNT10A):c.1087A>C (p.Asn363His) rs34972707 0.00062
NM_000046.5(ARSB):c.570A>G (p.Thr190=) rs148138805 0.00061
NM_000088.4(COL1A1):c.1461+13G>T rs371161009 0.00061
NM_000088.4(COL1A1):c.1587C>T (p.Pro529=) rs113437353 0.00061
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684 0.00061
NM_000264.5(PTCH1):c.2050G>A (p.Glu684Lys) rs62637629 0.00061
NM_000284.4(PDHA1):c.97G>C (p.Asp33His) rs150318528 0.00061
NM_000316.3(PTH1R):c.226G>C (p.Gly76Arg) rs148414587 0.00061
NM_000393.5(COL5A2):c.3471+8A>T rs367643805 0.00061
NM_001040167.2(LFNG):c.581+14C>T rs371327031 0.00061
NM_001122681.2(SH3BP2):c.239G>A (p.Arg80Gln) rs147432096 0.00061
NM_001122681.2(SH3BP2):c.441G>A (p.Ser147=) rs145235325 0.00061
NM_001291415.2(KDM6A):c.1194+17G>A rs371918621 0.00061
NM_001329943.3(KIAA0586):c.1583+15G>A rs201295491 0.00061
NM_001365902.3(NFIX):c.698-12C>T rs372409455 0.00061
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser) rs199768782 0.00061
NM_001379286.1(ZNF423):c.1677G>A (p.Pro559=) rs142344079 0.00061
NM_001614.5(ACTG1):c.363+5G>A rs116329164 0.00061
NM_001999.4(FBN2):c.1749G>A (p.Gly583=) rs75940000 0.00061
NM_002334.4(LRP4):c.570C>T (p.Pro190=) rs147353838 0.00061
NM_002386.4(MC1R):c.633G>A (p.Leu211=) rs34564466 0.00061
NM_002755.4(MAP2K1):c.315C>T (p.Pro105=) rs144166521 0.00061
NM_003482.4(KMT2D):c.7046C>T (p.Pro2349Leu) rs201581582 0.00061
NM_005359.6(SMAD4):c.*2361A>G rs143842829 0.00061
NM_005360.5(MAF):c.882G>A (p.Arg294=) rs140303158 0.00061
NM_005751.5(AKAP9):c.10118C>A (p.Ser3373Tyr) rs140470576 0.00061
NM_005751.5(AKAP9):c.1737T>G (p.Ser579=) rs138049714 0.00061
NM_005751.5(AKAP9):c.5246T>C (p.Ile1749Thr) rs150016098 0.00061
NM_006015.6(ARID1A):c.3792C>T (p.Ala1264=) rs142429183 0.00061
NM_006371.5(CRTAP):c.641T>C (p.Val214Ala) rs146124454 0.00061
NM_006767.4(LZTR1):c.-6C>T rs188063382 0.00061
NM_006939.4(SOS2):c.3602A>G (p.His1201Arg) rs555945363 0.00061
NM_006939.4(SOS2):c.621C>T (p.Ile207=) rs147109760 0.00061
NM_012414.4(RAB3GAP2):c.3226-18T>G rs139628150 0.00061
NM_013275.6(ANKRD11):c.6140C>G (p.Ala2047Gly) rs199691161 0.00061
NM_013275.6(ANKRD11):c.6791C>T (p.Pro2264Leu) rs565435346 0.00061
NM_014918.5(CHSY1):c.1218C>T (p.Asp406=) rs113219895 0.00061
NM_015335.5(MED13L):c.771C>T (p.Asp257=) rs148136300 0.00061
NM_017617.5(NOTCH1):c.5967T>C (p.Asp1989=) rs73668311 0.00061
NM_018082.6(POLR3B):c.2084-15C>T rs181026609 0.00061
NM_018136.5(ASPM):c.9492T>C (p.Tyr3164=) rs143931757 0.00061
NM_019892.6(INPP5E):c.813-8C>T rs373176644 0.00061
NM_022455.5(NSD1):c.480C>T (p.Asp160=) rs79427433 0.00061
NM_022458.4(LMBR1):c.*1469C>T rs184156281 0.00061
NM_025215.6(PUS1):c.1020C>T (p.Phe340=) rs202059921 0.00061
NM_030632.3(ASXL3):c.2731G>A (p.Val911Met) rs201107680 0.00061
NM_133433.4(NIPBL):c.2294G>A (p.Arg765Lys) rs185678374 0.00061
NM_138959.3(VANGL1):c.*2187T>C rs146730302 0.00061
NM_182943.3(PLOD2):c.805G>A (p.Val269Ile) rs147665692 0.00061
NM_000052.7(ATP7A):c.2070A>G (p.Glu690=) rs146692150 0.00060
NM_000052.7(ATP7A):c.880A>T (p.Asn294Tyr) rs150526992 0.00060
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser) rs189557655 0.00060
NM_000280.4(PAX6):c.*2882T>C rs143185259 0.00060
NM_000346.4(SOX9):c.686-8del rs564339518 0.00060
NM_000393.5(COL5A2):c.2770-5A>G rs370313198 0.00060
NM_001365276.2(TNXB):c.86G>A (p.Arg29Gln) rs184878358 0.00060
NM_003070.5(SMARCA2):c.4737+13G>A rs149380449 0.00060
NM_005633.4(SOS1):c.*44T>C rs182657531 0.00060
NM_006015.6(ARID1A):c.3762C>T (p.Gly1254=) rs138814830 0.00060
NM_006031.6(PCNT):c.5815C>T (p.Arg1939Trp) rs575313866 0.00060
NM_014244.5(ADAMTS2):c.3506G>T (p.Gly1169Val) rs117187367 0.00060
NM_015338.6(ASXL1):c.3889G>A (p.Val1297Ile) rs140137262 0.00060
NM_016938.5(EFEMP2):c.714C>T (p.Gly238=) rs2234467 0.00060
NM_018026.4(PACS1):c.2139C>T (p.Tyr713=) rs61736585 0.00060
NM_018082.6(POLR3B):c.399C>T (p.Ile133=) rs147328031 0.00060
NM_021922.3(FANCE):c.1028G>A (p.Arg343Gln) rs45467798 0.00060
NM_022168.4(IFIH1):c.2784C>T (p.His928=) rs145187664 0.00060
NM_031483.7(ITCH):c.1140+18T>A rs144175693 0.00060
NM_138959.3(VANGL1):c.285C>T (p.Ile95=) rs140451005 0.00060
NM_147127.5(EVC2):c.3431G>A (p.Ser1144Asn) rs200609501 0.00060
NM_153490.3(KRT13):c.767G>A (p.Gly256Asp) rs150947773 0.00060
NM_000044.6(AR):c.1536G>A (p.Val512=) rs150545747 0.00059
NM_000090.4(COL3A1):c.3202-14del rs767971610 0.00059
NM_001005498.4(RHBDF2):c.*181C>T rs374842629 0.00059
NM_001042492.3(NF1):c.7410T>C (p.Asn2470=) rs17881903 0.00059
NM_001106.4(ACVR2B):c.*6156C>T rs184122552 0.00059
NM_001282531.3(ADNP):c.2317A>G (p.Lys773Glu) rs140169338 0.00059
NM_001330078.2(NRXN1):c.105C>A (p.Gly35=) rs55640811 0.00059
NM_001371623.1(TCOF1):c.2188C>T (p.Pro730Ser) rs150196623 0.00059
NM_001378964.1(CDON):c.*2024C>T rs148239384 0.00059
NM_002334.4(LRP4):c.677-14T>C rs373597511 0.00059
NM_002465.4(MYBPC1):c.2320T>C (p.Leu774=) rs201984898 0.00059
NM_003850.2(SUCLA2):c.-34G>T rs373530187 0.00059
NM_004208.4(AIFM1):c.106+15C>G rs199863662 0.00059
NM_004260.4(RECQL4):c.1348G>A (p.Val450Met) rs200941778 0.00059
NM_007294.4(BRCA1):c.4691T>C (p.Leu1564Pro) rs56119278 0.00059
NM_013275.6(ANKRD11):c.5629C>T (p.Pro1877Ser) rs142527333 0.00059
NM_014140.4(SMARCAL1):c.124A>G (p.Ile42Val) rs199905841 0.00059
NM_015338.6(ASXL1):c.4470G>T (p.Leu1490Phe) rs140896392 0.00059
NM_015634.4(KIFBP):c.78A>G (p.Lys26=) rs144067344 0.00059
NM_020458.4(TTC7A):c.158G>C (p.Ser53Thr) rs117017326 0.00059
NM_022114.4(PRDM16):c.1599G>A (p.Ser533=) rs373205864 0.00059
NM_032444.4(SLX4):c.3178C>T (p.Arg1060Trp) rs144273492 0.00059
NM_147127.5(EVC2):c.1287T>C (p.Ser429=) rs148775651 0.00059
NM_173660.5(DOK7):c.1020C>T (p.Ile340=) rs370838856 0.00059
NC_000009.12:g.35658030T>G rs372044910 0.00058
NM_000052.7(ATP7A):c.3931A>G (p.Met1311Val) rs139781067 0.00058
NM_000093.5(COL5A1):c.996C>T (p.Asp332=) rs144763302 0.00058
NM_000256.3(MYBPC3):c.3102C>T (p.Ala1034=) rs200663253 0.00058
NM_000284.4(PDHA1):c.604-10C>T rs201754585 0.00058
NM_000393.5(COL5A2):c.3021C>T (p.Pro1007=) rs143318792 0.00058
NM_000540.3(RYR1):c.6961A>G (p.Ile2321Val) rs34390345 0.00058
NM_000719.7(CACNA1C):c.5391C>G (p.Pro1797=) rs376124689 0.00058
NM_001018113.3(FANCB):c.262G>A (p.Gly88Arg) rs142101123 0.00058
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753 0.00058
NM_001042492.3(NF1):c.6147+11T>C rs201275748 0.00058
NM_001113378.2(FANCI):c.1584-15C>G rs199531931 0.00058
NM_001367561.1(DOCK7):c.4713C>T (p.His1571=) rs149949352 0.00058
NM_001369268.1(ACAN):c.1882G>A (p.Ala628Thr) rs200412974 0.00058
NM_001374828.1(ARID1B):c.1534A>G (p.Met512Val) rs199948752 0.00058
NM_001844.5(COL2A1):c.1287T>C (p.Gly429=) rs35012272 0.00058
NM_002470.4(MYH3):c.166C>G (p.Gln56Glu) rs143973840 0.00058
NM_002968.3(SALL1):c.809C>T (p.Pro270Leu) rs140827311 0.00058
NM_003070.5(SMARCA2):c.1962G>A (p.Gln654=) rs151212782 0.00058
NM_003482.4(KMT2D):c.6579G>A (p.Pro2193=) rs556666267 0.00058
NM_003850.3(SUCLA2):c.*205T>C rs149321505 0.00058
NM_004836.7(EIF2AK3):c.1539G>A (p.Lys513=) rs55716350 0.00058
NM_005360.5(MAF):c.715G>A (p.Ala239Thr) rs561314990 0.00058
NM_006494.4(ERF):c.1046C>T (p.Pro349Leu) rs144812092 0.00058
NM_013275.6(ANKRD11):c.227-10C>T rs201226457 0.00058
NM_017617.5(NOTCH1):c.140+17C>T rs377269443 0.00058
NM_021625.5(TRPV4):c.549G>A (p.Glu183=) rs141908793 0.00058
NM_022114.4(PRDM16):c.38-14G>A rs368409902 0.00058
NM_023110.3(FGFR1):c.2361G>A (p.Thr787=) rs200408837 0.00058
NM_024312.5(GNPTAB):c.174C>T (p.Asp58=) rs148948607 0.00058
NM_025114.4(CEP290):c.7186G>T (p.Asp2396Tyr) rs189556433 0.00058
NM_052989.3(IFT122):c.3392-20C>T rs200747264 0.00058
NM_145068.4(TRPV3):c.1050G>A (p.Lys350=) rs141575082 0.00058
NM_198173.3(GRHL3):c.1469G>A (p.Arg490His) rs138381915 0.00058
NM_000089.4(COL1A2):c.3853A>C (p.Asn1285His) rs144797861 0.00057
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584 0.00057
NM_000466.3(PEX1):c.1085C>T (p.Ser362Leu) rs138758170 0.00057
NM_000501.4(ELN):c.1507G>A (p.Val503Met) rs41523046 0.00057
NM_000557.5(GDF5):c.1128G>T (p.Gln376His) rs138130158 0.00057
NM_000751.3(CHRND):c.1253-9C>T rs2853458 0.00057
NM_001032386.2(SUOX):c.228G>T (p.Arg76Ser) rs202085145 0.00057
NM_001110556.2(FLNA):c.7756+8A>G rs201663443 0.00057
NM_001113378.2(FANCI):c.1698+16G>A rs142941067 0.00057
NM_003482.4(KMT2D):c.1965C>A (p.Pro655=) rs200939188 0.00057
NM_005045.4(RELN):c.5961G>T (p.Lys1987Asn) rs143948239 0.00057
NM_005445.4(SMC3):c.1280A>G (p.Lys427Arg) rs142524280 0.00057
NM_005629.4(SLC6A8):c.1597-19G>A rs202118923 0.00057
NM_005660.3(SLC35A2):c.72G>T (p.Glu24Asp) rs374961453 0.00057
NM_007059.4(KPTN):c.710-14C>T rs201175857 0.00057
NM_013275.6(ANKRD11):c.2240C>T (p.Ser747Leu) rs138898373 0.00057
NM_133433.4(NIPBL):c.-243A>C rs544681871 0.00057
NM_000020.3(ACVRL1):c.1247-15A>G rs186868158 0.00056
NM_000027.4(AGA):c.482G>A (p.Arg161Gln) rs192195150 0.00056
NM_000093.5(COL5A1):c.2700+16C>T rs371771646 0.00056
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr) rs17227396 0.00056
NM_000183.3(HADHB):c.*52A>G rs183649494 0.00056
NM_000264.5(PTCH1):c.1503+12G>A rs368083214 0.00056
NM_000368.5(TSC1):c.*3448C>T rs201092466 0.00056
NM_000489.6(ATRX):c.2531C>A (p.Thr844Lys) rs139131007 0.00056
NM_000489.6(ATRX):c.5349A>G (p.Pro1783=) rs149960511 0.00056
NM_000503.6(EYA1):c.557-11T>A rs201752432 0.00056
NM_000789.4(ACE):c.479A>G (p.Asn160Ser) rs117134739 0.00056
NM_001018115.3(FANCD2):c.205+9T>G rs34113138 0.00056
NM_001083962.2(TCF4):c.*2413G>A rs191924864 0.00056
NM_001114753.3(ENG):c.159C>T (p.Cys53=) rs148475405 0.00056
NM_001291867.2(NHS):c.4436G>A (p.Ser1479Asn) rs145200841 0.00056
NM_001358530.2(MOCS1):c.282G>A (p.Pro94=) rs145146059 0.00056
NM_001378615.1(CC2D2A):c.1041C>T (p.Asp347=) rs371086728 0.00056
NM_001382391.1(CSPP1):c.1023-20del rs550798896 0.00056
NM_001743.6(CALM2):c.243C>T (p.Asp81=) rs141298844 0.00056
NM_002272.4(KRT4):c.1495G>C (p.Gly499Arg) rs190897990 0.00056
NM_002386.4(MC1R):c.284C>T (p.Thr95Met) rs34158934 0.00056
NM_002470.4(MYH3):c.2683-14C>A rs202129717 0.00056
NM_004004.6(GJB2):c.-22-2A>C rs201895089 0.00056
NM_004168.4(SDHA):c.550G>A (p.Gly184Arg) rs148246073 0.00056
NM_005491.5(MAMLD1):c.1699C>T (p.Pro567Ser) rs146443503 0.00056
NM_005908.4(MANBA):c.2014+14C>T rs192469727 0.00056
NM_012200.4(B3GAT3):c.108C>T (p.Pro36=) rs75316688 0.00056
NM_012431.3(SEMA3E):c.1680A>G (p.Arg560=) rs186628513 0.00056
NM_013275.6(ANKRD11):c.7311C>T (p.Pro2437=) rs377547565 0.00056
NM_017617.5(NOTCH1):c.1100-14C>T rs562148507 0.00056
NM_017617.5(NOTCH1):c.311A>G (p.Asn104Ser) rs199654211 0.00056
NM_020779.4(WDR35):c.*487C>T rs116951767 0.00056
NM_020975.6(RET):c.833C>A (p.Thr278Asn) rs35118262 0.00056
NM_030632.3(ASXL3):c.5001T>G (p.Pro1667=) rs377152896 0.00056
NM_031483.7(ITCH):c.216C>T (p.Ile72=) rs753422142 0.00056
NM_133433.4(NIPBL):c.534C>T (p.Tyr178=) rs148542094 0.00056
NM_138959.3(VANGL1):c.*3409T>C rs140931431 0.00056
NM_170665.4(ATP2A2):c.2319-12G>A rs369489819 0.00056
NM_198253.3(TERT):c.1836C>G (p.Ala612=) rs34170122 0.00056
NM_000168.6(GLI3):c.*2357T>A rs562705224 0.00055
NM_000202.8(IDS):c.781C>G (p.Pro261Ala) rs141720810 0.00055
NM_000466.3(PEX1):c.2792C>A (p.Ala931Asp) rs144825021 0.00055
NM_000719.7(CACNA1C):c.2530+13C>T rs374170716 0.00055
NM_001042545.2(LTBP4):c.2238C>T (p.Pro746=) rs201588216 0.00055
NM_001291867.2(NHS):c.4666T>A (p.Ser1556Thr) rs2071848 0.00055
NM_001291867.2(NHS):c.666C>T (p.Cys222=) rs138104885 0.00055
NM_001614.5(ACTG1):c.228C>T (p.Val76=) rs143028649 0.00055
NM_004614.5(TK2):c.576G>A (p.Arg192=) rs146963943 0.00055
NM_005359.6(SMAD4):c.*5627G>A rs185010226 0.00055
NM_006015.6(ARID1A):c.1716G>A (p.Thr572=) rs147554664 0.00055
NM_006306.4(SMC1A):c.*5444G>A rs181871602 0.00055
NM_017780.4(CHD7):c.5300+8C>T rs151322460 0.00055
NM_021005.4(NR2F2):c.537C>T (p.Ser179=) rs143951395 0.00055
NM_032043.3(BRIP1):c.430G>A (p.Ala144Thr) rs116952709 0.00055
NM_194318.4(B3GLCT):c.1185-6C>G rs202096313 0.00055
NM_000088.4(COL1A1):c.3309C>T (p.Gly1103=) rs142312753 0.00054
NM_000088.4(COL1A1):c.3423A>C (p.Arg1141=) rs148737409 0.00054
NM_000090.4(COL3A1):c.114C>G (p.Ser38=) rs141241764 0.00054
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372 0.00054
NM_000218.3(KCNQ1):c.1332G>A (p.Thr444=) rs144985256 0.00054
NM_000238.4(KCNH2):c.3153-18C>T rs201337201 0.00054
NM_000264.5(PTCH1):c.3954G>A (p.Pro1318=) rs45529536 0.00054
NM_000288.4(PEX7):c.418-4G>T rs199552223 0.00054
NM_000329.3(RPE65):c.963T>G (p.Asn321Lys) rs149916178 0.00054
NM_000553.6(WRN):c.3453G>A (p.Glu1151=) rs144116311 0.00054
NM_001122681.2(SH3BP2):c.1549-12C>A rs202005559 0.00054
NM_001151.4(SLC25A4):c.*2466C>A rs142255349 0.00054
NM_001329943.3(KIAA0586):c.2944+8A>C rs571616049 0.00054
NM_001365951.3(KIF1B):c.*1986C>G rs557129908 0.00054
NM_001999.4(FBN2):c.4472-12T>A rs551686237 0.00054
NM_002470.4(MYH3):c.3731C>T (p.Ala1244Val) rs140074626 0.00054
NM_002470.4(MYH3):c.4647+6T>G rs375163919 0.00054
NM_003000.3(SDHB):c.21C>T (p.Leu7=) rs147815442 0.00054
NM_004304.5(ALK):c.3939-8A>G rs3738869 0.00054
NM_004370.6(COL12A1):c.7223C>T (p.Thr2408Met) rs141593495 0.00054
NM_004380.3(CREBBP):c.2850G>A (p.Thr950=) rs141651423 0.00054
NM_005751.5(AKAP9):c.10845G>A (p.Lys3615=) rs138739292 0.00054
NM_005908.4(MANBA):c.2415+19G>A rs148719555 0.00054
NM_012330.4(KAT6B):c.1663G>A (p.Gly555Arg) rs146395020 0.00054
NM_015311.3(OBSL1):c.2981G>A (p.Arg994His) rs139713392 0.00054
NM_017777.4(MKS1):c.1498A>G (p.Met500Val) rs144635826 0.00054
NM_022336.4(EDAR):c.1138A>C (p.Ser380Arg) rs146567337 0.00054
NM_022455.5(NSD1):c.4473G>T (p.Ser1491=) rs150920473 0.00054
NM_181486.4(TBX5):c.55G>T (p.Ala19Ser) rs200461617 0.00054
NM_000036.3(AMPD1):c.1570T>A (p.Ser524Thr) rs140181682 0.00053
NM_000088.4(COL1A1):c.3531+14C>T rs199766533 0.00053
NM_000090.4(COL3A1):c.3774C>T (p.Pro1258=) rs149790711 0.00053
NM_000135.4(FANCA):c.1047G>A (p.Ala349=) rs144900606 0.00053
NM_000218.3(KCNQ1):c.1179G>T (p.Lys393Asn) rs12720457 0.00053
NM_000264.5(PTCH1):c.1847+14C>T rs202007968 0.00053
NM_000501.4(ELN):c.470-10C>G rs200663056 0.00053
NM_000553.6(WRN):c.4248T>C (p.Asp1416=) rs112024742 0.00053
NM_000789.4(ACE):c.5G>T (p.Gly2Val) rs558593002 0.00053
NM_000965.5(RARB):c.920A>C (p.Asn307Thr) rs146757345 0.00053
NM_001018113.3(FANCB):c.1442G>A (p.Arg481His) rs140198444 0.00053
NM_001042492.3(NF1):c.*2566C>T rs545937364 0.00053
NM_001042492.3(NF1):c.6379A>G (p.Ile2127Val) rs200022550 0.00053
NM_001104631.2(PDE4D):c.891G>A (p.Arg297=) rs369034280 0.00053
NM_001113378.2(FANCI):c.1893A>C (p.Leu631Phe) rs118138806 0.00053
NM_001127671.2(LIFR):c.*1840C>G rs190209875 0.00053
NM_001291867.2(NHS):c.3374C>T (p.Ser1125Leu) rs145005596 0.00053
NM_001371623.1(TCOF1):c.503C>T (p.Thr168Met) rs181203524 0.00053
NM_001374353.1(GLI2):c.2108G>A (p.Arg703His) rs149091975 0.00053
NM_001614.5(ACTG1):c.1017G>C (p.Val339=) rs111305526 0.00053
NM_001614.5(ACTG1):c.774G>A (p.Pro258=) rs61997068 0.00053
NM_004304.5(ALK):c.1234C>T (p.Arg412Cys) rs147102592 0.00053
NM_005633.4(SOS1):c.2371C>A (p.Leu791Ile) rs142004123 0.00053
NM_005982.4(SIX1):c.*443A>G rs186530769 0.00053
NM_006494.4(ERF):c.840G>A (p.Ser280=) rs145699948 0.00053
NM_006939.4(SOS2):c.700C>T (p.Leu234=) rs145848231 0.00053
NM_012140.5(SLC25A10):c.763-37G>A rs200706742 0.00053
NM_012414.4(RAB3GAP2):c.613-14T>A rs374690916 0.00053
NM_013275.6(ANKRD11):c.7623G>A (p.Ala2541=) rs190789698 0.00053
NM_014244.5(ADAMTS2):c.*288G>A rs59090242 0.00053
NM_017617.5(NOTCH1):c.2136C>A (p.Thr712=) rs369346436 0.00053
NM_017617.5(NOTCH1):c.3249C>T (p.Cys1083=) rs139994842 0.00053
NM_018451.5(CPAP):c.763A>G (p.Thr255Ala) rs150932292 0.00053
NM_021625.5(TRPV4):c.2304G>C (p.Ser768=) rs138986228 0.00053
NM_032444.4(SLX4):c.2844G>A (p.Ala948=) rs376877866 0.00053
NM_032888.4(COL27A1):c.4066G>C (p.Asp1356His) rs149434700 0.00053
NM_207346.3(TSEN54):c.325C>G (p.Arg109Gly) rs148146916 0.00053
NM_000047.3(ARSL):c.775C>G (p.His259Asp) rs138149353 0.00052
NM_000181.4(GUSB):c.1461T>C (p.Tyr487=) rs200831987 0.00052
NM_000553.6(WRN):c.3422C>T (p.Ser1141Leu) rs139323683 0.00052
NM_000719.7(CACNA1C):c.3156+17G>A rs201709484 0.00052
NM_000719.7(CACNA1C):c.5680+11C>A rs66611965 0.00052
NM_001005498.4(RHBDF2):c.853G>A (p.Ala285Thr) rs140433374 0.00052
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=) rs149924365 0.00052
NM_001083962.2(TCF4):c.*5-10C>T rs552239655 0.00052
NM_001104631.2(PDE4D):c.339G>A (p.Glu113=) rs370095823 0.00052
NM_001106.4(ACVR2B):c.*4423A>G rs184076956 0.00052
NM_001134831.2(AHI1):c.990T>C (p.Asp330=) rs376654503 0.00052
NM_001271938.2(MEGF8):c.4152C>T (p.Leu1384=) rs34225188 0.00052
NM_001365951.3(KIF1B):c.2874C>T (p.Asp958=) rs150831576 0.00052
NM_001367624.2(ZNF469):c.9555C>G (p.Ala3185=) rs273585636 0.00052
NM_001429.4(EP300):c.1168+20T>C rs3818121 0.00052
NM_002334.4(LRP4):c.2506+17C>T rs376349760 0.00052
NM_003738.5(PTCH2):c.321G>A (p.Glu107=) rs143348731 0.00052
NM_003923.3(FOXH1):c.*472G>T rs576710211 0.00052
NM_004484.4(GPC3):c.359G>A (p.Arg120His) rs148021273 0.00052
NM_005027.4(PIK3R2):c.843G>A (p.Ala281=) rs140686003 0.00052
NM_014795.4(ZEB2):c.1306A>G (p.Met436Val) rs145812868 0.00052
NM_014918.5(CHSY1):c.573C>T (p.Ser191=) rs147152103 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_019892.6(INPP5E):c.1159+9G>A rs114937687 0.00052
NM_020529.3(NFKBIA):c.903C>T (p.Asp301=) rs146132589 0.00052
NM_020975.6(RET):c.225G>A (p.Thr75=) rs151267865 0.00052
NM_080680.3(COL11A2):c.3699C>T (p.Arg1233=) rs151098305 0.00052
NM_080680.3(COL11A2):c.4799G>A (p.Arg1600Gln) rs1799912 0.00052
NM_152383.5(DIS3L2):c.662C>G (p.Thr221Arg) rs201020526 0.00052
NM_213599.3(ANO5):c.2029+19T>G rs374035760 0.00052
NM_000057.4(BLM):c.465T>C (p.Asp155=) rs185349681 0.00051
NM_000071.3(CBS):c.954+20C>T rs372327925 0.00051
NM_000135.4(FANCA):c.893+19C>G rs377406711 0.00051
NM_000143.4(FH):c.77C>T (p.Pro26Leu) rs187226800 0.00051
NM_000165.5(GJA1):c.1128G>A (p.Arg376=) rs145215218 0.00051
NM_000264.5(PTCH1):c.*2175G>A rs188061818 0.00051
NM_000264.5(PTCH1):c.3947A>G (p.Tyr1316Cys) rs147067171 0.00051
NM_000264.5(PTCH1):c.4128C>T (p.Ser1376=) rs142148876 0.00051
NM_000548.5(TSC2):c.1593C>T (p.Ile531=) rs45517180 0.00051
NM_000719.7(CACNA1C):c.372-23A>G rs200282707 0.00051
NM_000719.7(CACNA1C):c.5091+17C>T rs375537358 0.00051
NM_000890.5(KCNJ5):c.957G>A (p.Arg319=) rs192889782 0.00051
NM_001083962.2(TCF4):c.1577C>T (p.Thr526Met) rs202025804 0.00051
NM_001122681.2(SH3BP2):c.1351-16C>T rs200781117 0.00051
NM_001148.6(ANK2):c.7971C>T (p.Ser2657=) rs146085234 0.00051
NM_001271938.2(MEGF8):c.4781G>A (p.Arg1594His) rs141153248 0.00051
NM_001378615.1(CC2D2A):c.4648C>T (p.Leu1550=) rs199861496 0.00051
NM_001931.5(DLAT):c.1815-15T>C rs192297571 0.00051
NM_002408.4(MGAT2):c.609T>C (p.Asn203=) rs147375948 0.00051
NM_002470.4(MYH3):c.4635C>T (p.Leu1545=) rs74406856 0.00051
NM_003073.5(SMARCB1):c.*293C>T rs754865420 0.00051
NM_003384.3(VRK1):c.375-8G>C rs191021502 0.00051
NM_003482.4(KMT2D):c.14075+11G>C rs770360649 0.00051
NM_003850.3(SUCLA2):c.660C>T (p.Leu220=) rs148794726 0.00051
NM_004208.4(AIFM1):c.72C>T (p.Cys24=) rs373609902 0.00051
NM_004380.3(CREBBP):c.760G>A (p.Ala254Thr) rs148781922 0.00051
NM_004525.3(LRP2):c.9234C>T (p.His3078=) rs116975392 0.00051
NM_005465.7(AKT3):c.285-13C>T rs201603638 0.00051
NM_005633.4(SOS1):c.2760G>A (p.Arg920=) rs149092581 0.00051
NM_006031.6(PCNT):c.6579G>A (p.Pro2193=) rs150756913 0.00051
NM_006306.4(SMC1A):c.3591C>T (p.Ala1197=) rs146216425 0.00051
NM_007254.4(PNKP):c.1557C>T (p.Ser519=) rs142180374 0.00051
NM_012293.3(PXDN):c.4437C>T (p.Pro1479=) rs144382074 0.00051
NM_013275.6(ANKRD11):c.3009C>T (p.His1003=) rs140023344 0.00051
NM_013275.6(ANKRD11):c.6065C>T (p.Pro2022Leu) rs373218212 0.00051
NM_015713.5(RRM2B):c.*2822A>T rs189278573 0.00051
NM_016955.4(SEPSECS):c.*223G>A rs146860744 0.00051
NM_017617.5(NOTCH1):c.4653C>T (p.Ser1551=) rs368495371 0.00051
NM_017780.4(CHD7):c.2829G>A (p.Glu943=) rs374877439 0.00051
NM_020964.3(EPG5):c.6162G>A (p.Thr2054=) rs368651243 0.00051
NM_020975.6(RET):c.405C>T (p.Gly135=) rs142345108 0.00051
NM_021625.5(TRPV4):c.769C>G (p.Leu257Val) rs56217500 0.00051
NM_022166.4(XYLT1):c.2296C>G (p.Pro766Ala) rs12325439 0.00051
NM_024426.6(WT1):c.1161A>G (p.Ala387=) rs141834493 0.00051
NM_024757.5(EHMT1):c.1983G>A (p.Ser661=) rs143204067 0.00051
NM_032444.4(SLX4):c.4836C>T (p.Asp1612=) rs140844106 0.00051
NM_133433.4(NIPBL):c.4959A>G (p.Lys1653=) rs145952190 0.00051
NM_145068.4(TRPV3):c.*3149T>C rs2271157 0.00051
NM_147127.5(EVC2):c.2178G>A (p.Glu726=) rs147015327 0.00051
NM_181486.4(TBX5):c.*1188T>C rs141223729 0.00051
NM_181486.4(TBX5):c.747A>G (p.Arg249=) rs138552878 0.00051
NM_206937.2(LIG4):c.1972A>G (p.Ile658Val) rs2232641 0.00051
NM_000090.4(COL3A1):c.3777T>C (p.Ala1259=) rs34781844 0.00050
NM_000218.3(KCNQ1):c.1431C>T (p.Pro477=) rs137887424 0.00050
NM_000257.4(MYH7):c.3036C>T (p.Ala1012=) rs145379951 0.00050
NM_000489.6(ATRX):c.1423C>G (p.His475Asp) rs146863015 0.00050
NM_000553.6(WRN):c.1882C>G (p.Leu628Val) rs77969734 0.00050
NM_001042492.3(NF1):c.8151G>A (p.Pro2717=) rs2285895 0.00050
NM_001202.6(BMP4):c.345C>T (p.Asn115=) rs143687498 0.00050
NM_001282531.3(ADNP):c.1752A>G (p.Gln584=) rs139237825 0.00050
NM_001347721.2(DYRK1A):c.1539C>T (p.Ser513=) rs113110833 0.00050
NM_001354604.2(MITF):c.1573A>G (p.Thr525Ala) rs142263283 0.00050
NM_002010.3(FGF9):c.*208G>A rs552081915 0.00050
NM_002397.5(MEF2C):c.402+16A>G rs373582392 0.00050
NM_002470.4(MYH3):c.3072C>G (p.Thr1024=) rs139544273 0.00050
NM_003070.5(SMARCA2):c.708A>G (p.Gln236=) rs754442970 0.00050
NM_004273.5(CHST3):c.*2464C>G rs117578356 0.00050
NM_004380.3(CREBBP):c.2409C>T (p.Ser803=) rs139207930 0.00050
NM_004656.4(BAP1):c.501G>A (p.Ala167=) rs148631953 0.00050
NM_005045.4(RELN):c.7580C>A (p.Ser2527Tyr) rs114620403 0.00050
NM_005199.5(CHRNG):c.132G>A (p.Ala44=) rs141402683 0.00050
NM_005359.6(SMAD4):c.*4378T>G rs540039847 0.00050
NM_005633.4(SOS1):c.345+12_345+13dup rs397517167 0.00050
NM_012186.3(FOXE3):c.158C>T (p.Pro53Leu) rs534479543 0.00050
NM_012414.4(RAB3GAP2):c.3991C>A (p.Leu1331Ile) rs149842844 0.00050
NM_013275.6(ANKRD11):c.5665A>G (p.Lys1889Glu) rs202034147 0.00050
NM_020975.6(RET):c.*29C>A rs199639914 0.00050
NM_080605.4(B3GALT6):c.483G>A (p.Ala161=) rs373668725 0.00050
NM_130837.3(OPA1):c.1302T>G (p.Pro434=) rs139861334 0.00050
NM_152564.5(VPS13B):c.1463C>T (p.Thr488Met) rs150783688 0.00050
NM_152564.5(VPS13B):c.3211-11T>C rs77129176 0.00050
NM_000199.5(SGSH):c.746-16C>T rs376577518 0.00049
NM_000264.5(PTCH1):c.2560+8G>A rs201541845 0.00049
NM_000474.4(TWIST1):c.369G>C (p.Ser123=) rs144664279 0.00049
NM_000489.6(ATRX):c.2923G>A (p.Asp975Asn) rs200709847 0.00049
NM_000891.3(KCNJ2):c.1044C>T (p.Tyr348=) rs146330042 0.00049
NM_000965.5(RARB):c.768C>T (p.Ala256=) rs115482149 0.00049
NM_001032386.2(SUOX):c.119G>A (p.Arg40His) rs117778870 0.00049
NM_001102564.3(IFT43):c.486G>A (p.Ala162=) rs143729954 0.00049
NM_001106.4(ACVR2B):c.667-9C>T rs186009413 0.00049
NM_001347721.2(DYRK1A):c.492T>C (p.Val164=) rs148892536 0.00049
NM_001365276.2(TNXB):c.6608G>A (p.Arg2203Lys) rs150876029 0.00049
NM_001367624.2(ZNF469):c.5537C>T (p.Thr1846Met) rs539550777 0.00049
NM_001429.4(EP300):c.5364C>T (p.Leu1788=) rs143551315 0.00049
NM_001999.4(FBN2):c.5674+7A>G rs367877964 0.00049
NM_002968.3(SALL1):c.129C>T (p.His43=) rs368688611 0.00049
NM_003611.3(OFD1):c.2398A>G (p.Arg800Gly) rs139406798 0.00049
NM_004168.4(SDHA):c.723C>T (p.Asp241=) rs146653693 0.00049
NM_004208.4(AIFM1):c.54C>G (p.Pro18=) rs140076585 0.00049
NM_004380.3(CREBBP):c.2950A>T (p.Asn984Tyr) rs140406003 0.00049
NM_004525.3(LRP2):c.13610A>C (p.Gln4537Pro) rs188918037 0.00049
NM_005359.6(SMAD4):c.*6492A>T rs569819237 0.00049
NM_005633.4(SOS1):c.1203-13T>A rs145166996 0.00049
NM_007055.4(POLR3A):c.*1303C>T rs188968443 0.00049
NM_014780.5(CUL7):c.4935C>T (p.Ser1645=) rs116910528 0.00049
NM_024537.4(CARS2):c.564G>A (p.Thr188=) rs76988055 0.00049
NM_024809.5(TCTN2):c.1100-17T>C rs538341461 0.00049
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu) rs139287784 0.00049
NM_033337.3(CAV3):c.276C>T (p.Phe92=) rs72546669 0.00049
NM_130837.3(OPA1):c.*1425G>A rs117826024 0.00049
NM_152564.5(VPS13B):c.1981G>A (p.Asp661Asn) rs149334616 0.00049
NM_176787.5(PIGN):c.2022A>G (p.Leu674=) rs3764491 0.00049
NM_000052.7(ATP7A):c.3801+6T>C rs181665434 0.00048
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val) rs61753269 0.00048
NM_000264.5(PTCH1):c.3169-17T>A rs375034864 0.00048
NM_000264.5(PTCH1):c.3687G>A (p.Thr1229=) rs139123130 0.00048
NM_000501.4(ELN):c.278C>T (p.Pro93Leu) rs181019457 0.00048
NM_000503.6(EYA1):c.1699-8T>C rs201537030 0.00048
NM_001001433.3(STX16):c.585G>A (p.Gln195=) rs147137636 0.00048
NM_001005498.4(RHBDF2):c.1486A>G (p.Lys496Glu) rs150723002 0.00048
NM_001114753.3(ENG):c.1407G>A (p.Pro469=) rs41302657 0.00048
NM_001203.3(BMPR1B):c.247-9C>T rs199892209 0.00048
NM_001271938.2(MEGF8):c.402C>T (p.Asn134=) rs117439608 0.00048
NM_001291415.2(KDM6A):c.1558T>C (p.Cys520Arg) rs138723332 0.00048
NM_001368894.2(PAX6):c.1032G>A (p.Pro344=) rs146261351 0.00048
NM_001370259.2(MEN1):c.1049+9C>T rs200517349 0.00048
NM_001379286.1(ZNF423):c.3180G>A (p.Ala1060=) rs117592972 0.00048
NM_001429.4(EP300):c.3105C>T (p.Thr1035=) rs150498069 0.00048
NM_001614.5(ACTG1):c.105C>T (p.Val35=) rs11549193 0.00048
NM_001999.4(FBN2):c.3595G>A (p.Val1199Met) rs146997253 0.00048
NM_002148.4(HOXD10):c.465T>C (p.Ser155=) rs141770128 0.00048
NM_002181.4(IHH):c.228G>A (p.Glu76=) rs150747743 0.00048
NM_002181.4(IHH):c.229C>A (p.Arg77Ser) rs142036701 0.00048
NM_002386.4(MC1R):c.364G>A (p.Val122Met) rs201192930 0.00048
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_003244.4(TGIF1):c.320A>T (p.Gln107Leu) rs28939693 0.00048
NM_003334.4(UBA1):c.39C>T (p.Ser13=) rs141450062 0.00048
NM_003482.4(KMT2D):c.16599G>A (p.Arg5533=) rs199798179 0.00048
NM_004304.5(ALK):c.2343C>T (p.Asp781=) rs61754933 0.00048
NM_004370.6(COL12A1):c.2588G>A (p.Gly863Glu) rs370388701 0.00048
NM_004456.5(EZH2):c.1452A>G (p.Pro484=) rs148524884 0.00048
NM_004565.3(PEX14):c.384+17G>A rs199913711 0.00048
NM_005027.4(PIK3R2):c.2168C>T (p.Pro723Leu) rs201029925 0.00048
NM_005188.4(CBL):c.1227+4C>T rs201747825 0.00048
NM_012293.3(PXDN):c.273G>A (p.Leu91=) rs200915485 0.00048
NM_013275.6(ANKRD11):c.4237G>A (p.Glu1413Lys) rs140373729 0.00048
NM_014244.5(ADAMTS2):c.764G>A (p.Arg255Gln) rs117222015 0.00048
NM_015335.5(MED13L):c.40C>T (p.Leu14=) rs148454293 0.00048
NM_015713.5(RRM2B):c.*1601A>G rs140164634 0.00048
NM_017780.4(CHD7):c.7551A>G (p.Lys2517=) rs202020722 0.00048
NM_020964.3(EPG5):c.5616C>T (p.Thr1872=) rs141282194 0.00048
NM_021044.4(DHH):c.228C>T (p.Asp76=) rs201597166 0.00048
NM_133433.4(NIPBL):c.1212C>T (p.Pro404=) rs80358349 0.00048
NM_133433.4(NIPBL):c.615G>A (p.Ser205=) rs150678035 0.00048
NM_198173.3(GRHL3):c.606A>T (p.Pro202=) rs144957254 0.00048
NM_000093.5(COL5A1):c.3906+20G>A rs148053413 0.00047
NM_000182.5(HADHA):c.567C>T (p.Pro189=) rs183297747 0.00047
NM_000218.3(KCNQ1):c.972C>T (p.Val324=) rs554518844 0.00047
NM_000393.5(COL5A2):c.798+10C>T rs368165817 0.00047
NM_001018113.3(FANCB):c.69T>C (p.Leu23=) rs151173533 0.00047
NM_001018113.3(FANCB):c.989T>C (p.Ile330Thr) rs200161949 0.00047
NM_001018115.3(FANCD2):c.4038+8G>A rs190990145 0.00047
NM_001174147.2(LMX1B):c.140-4A>G rs368126014 0.00047
NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe) rs115223340 0.00047
NM_002615.7(SERPINF1):c.151G>A (p.Val51Met) rs150899084 0.00047
NM_003072.5(SMARCA4):c.2817C>T (p.Phe939=) rs147791182 0.00047
NM_003072.5(SMARCA4):c.4171-13A>G rs201298366 0.00047
NM_004370.6(COL12A1):c.7885G>A (p.Glu2629Lys) rs147044263 0.00047
NM_004565.3(PEX14):c.78G>A (p.Glu26=) rs144664869 0.00047
NM_005629.4(SLC6A8):c.1016+9C>T rs190690083 0.00047
NM_006031.6(PCNT):c.904G>A (p.Glu302Lys) rs186701249 0.00047
NM_013275.6(ANKRD11):c.6201C>T (p.Ser2067=) rs753589168 0.00047
NM_014140.4(SMARCAL1):c.962G>A (p.Gly321Asp) rs148752234 0.00047
NM_014423.4(AFF4):c.1389+12G>T rs201228351 0.00047
NM_015139.3(SLC35D1):c.203+12G>T rs200679737 0.00047
NM_017617.5(NOTCH1):c.2505C>A (p.Pro835=) rs111756273 0.00047
NM_018127.7(ELAC2):c.95C>G (p.Pro32Arg) rs544551424 0.00047
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala) rs201740483 0.00047
NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile) rs200776757 0.00047
NM_024426.6(WT1):c.1131T>C (p.Pro377=) rs151034312 0.00047
NM_058179.4(PSAT1):c.1059C>T (p.Asp353=) rs115639310 0.00047
NM_058216.3(RAD51C):c.706-18T>C rs56401264 0.00047
NM_133433.4(NIPBL):c.8337G>A (p.Thr2779=) rs139108785 0.00047
NM_152383.5(DIS3L2):c.795C>T (p.Tyr265=) rs202042951 0.00047
NM_153717.3(EVC):c.175-18C>G rs114621329 0.00047
NM_181486.4(TBX5):c.*306C>T rs571901755 0.00047
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687 0.00046
NM_000168.6(GLI3):c.1959G>A (p.Pro653=) rs148226583 0.00046
NM_000325.6(PITX2):c.206-9C>T rs367757020 0.00046
NM_000325.6(PITX2):c.273G>A (p.Arg91=) rs149288560 0.00046
NM_000393.5(COL5A2):c.1456-20T>C rs150724439 0.00046
NM_000489.6(ATRX):c.4120+4A>C rs200420513 0.00046
NM_000501.4(ELN):c.1621+12G>A rs200937895 0.00046
NM_001018113.3(FANCB):c.1067C>T (p.Ser356Leu) rs142304943 0.00046
NM_001082538.3(TCTN1):c.327A>G (p.Ser109=) rs140230455 0.00046
NM_001114753.3(ENG):c.1455G>A (p.Glu485=) rs150456852 0.00046
NM_001174147.2(LMX1B):c.*4012C>T rs576424682 0.00046
NM_001291415.2(KDM6A):c.1683+20C>T rs557391484 0.00046
NM_001378964.1(CDON):c.3726A>C (p.Thr1242=) rs139588649 0.00046
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=) rs147102633 0.00046
NM_002465.4(MYBPC1):c.1457C>A (p.Pro486Gln) rs139605474 0.00046
NM_002465.4(MYBPC1):c.3402A>G (p.Thr1134=) rs149742717 0.00046
NM_003036.4(SKI):c.1734C>T (p.Ser578=) rs117443908 0.00046
NM_003482.4(KMT2D):c.12096C>T (p.Ala4032=) rs370145169 0.00046
NM_004168.4(SDHA):c.163T>C (p.Tyr55His) rs142926807 0.00046
NM_005045.4(RELN):c.7114G>A (p.Val2372Met) rs114344654 0.00046
NM_005996.4(TBX3):c.2145G>T (p.Pro715=) rs142609038 0.00046
NM_006306.4(SMC1A):c.1912-14C>T rs375109064 0.00046
NM_006888.6(CALM1):c.303C>T (p.Ile101=) rs143503733 0.00046
NM_006939.4(SOS2):c.1071A>G (p.Gln357=) rs111961549 0.00046
NM_006939.4(SOS2):c.346-10C>G rs146395803 0.00046
NM_012293.3(PXDN):c.3165C>T (p.Pro1055=) rs75454260 0.00046
NM_012330.4(KAT6B):c.5970C>T (p.Asn1990=) rs140359323 0.00046
NM_013275.6(ANKRD11):c.306G>C (p.Leu102=) rs150497848 0.00046
NM_013275.6(ANKRD11):c.5632T>C (p.Ser1878Pro) rs143743958 0.00046
NM_015335.5(MED13L):c.3758C>T (p.Thr1253Ile) rs148416895 0.00046
NM_017946.4(FKBP14):c.123G>A (p.Lys41=) rs149485427 0.00046
NM_018136.5(ASPM):c.8166T>C (p.Tyr2722=) rs78315399 0.00046
NM_018718.3(CEP41):c.*4595G>A rs117814753 0.00046
NM_020937.4(FANCM):c.4931G>A (p.Arg1644Gln) rs138151018 0.00046
NM_022166.4(XYLT1):c.1918G>A (p.Gly640Ser) rs146288199 0.00046
NM_024809.5(TCTN2):c.635A>G (p.Asn212Ser) rs139927033 0.00046
NM_025114.4(CEP290):c.2595C>T (p.Leu865=) rs114632733 0.00046
NM_130468.4(CHST14):c.635T>C (p.Val212Ala) rs144629123 0.00046
NM_133433.4(NIPBL):c.804A>G (p.Ala268=) rs144238532 0.00046
NM_153704.6(TMEM67):c.369C>T (p.Ala123=) rs115640152 0.00046
NM_194318.4(B3GLCT):c.*2101T>C rs80102047 0.00046
NM_203486.3(DLL3):c.805G>A (p.Gly269Arg) rs139297205 0.00046
NM_000020.3(ACVRL1):c.642C>T (p.Gly214=) rs139008591 0.00045
NM_000077.5(CDKN2A):c.273G>A (p.Leu91=) rs4987127 0.00045
NM_000138.5(FBN1):c.5296+14G>A rs140650 0.00045
NM_000256.3(MYBPC3):c.*113G>T rs117960173 0.00045
NM_000393.5(COL5A2):c.322+18C>G rs201708256 0.00045
NM_000493.4(COL10A1):c.*157A>G rs117424376 0.00045
NM_000553.6(WRN):c.3738G>A (p.Leu1246=) rs147117969 0.00045
NM_000719.7(CACNA1C):c.2766G>A (p.Pro922=) rs184684058 0.00045
NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met) rs35110529 0.00045
NM_001083961.2(WDR62):c.744C>T (p.Gly248=) rs146898747 0.00045
NM_001358530.2(MOCS1):c.981+12C>T rs377628500 0.00045
NM_001378964.1(CDON):c.*864G>A rs144806373 0.00045
NM_001429.4(EP300):c.2568A>G (p.Ala856=) rs145037345 0.00045
NM_001614.5(ACTG1):c.66T>G (p.Ala22=) rs149682185 0.00045
NM_002470.4(MYH3):c.3270A>G (p.Gln1090=) rs144312976 0.00045
NM_002470.4(MYH3):c.5301G>A (p.Ala1767=) rs151028057 0.00045
NM_002968.3(SALL1):c.2331C>T (p.Asn777=) rs144747142 0.00045
NM_003289.4(TPM2):c.726C>T (p.Ala242=) rs76414035 0.00045
NM_003334.4(UBA1):c.1137C>T (p.Asp379=) rs143935711 0.00045
NM_004370.6(COL12A1):c.4744A>C (p.Met1582Leu) rs200520924 0.00045
NM_005257.6(GATA6):c.1135+9C>G rs76308670 0.00045
NM_005257.6(GATA6):c.1605A>G (p.Gln535=) rs117646477 0.00045
NM_005359.6(SMAD4):c.*4862A>G rs139595540 0.00045
NM_005585.5(SMAD6):c.447C>T (p.Ala149=) rs181184476 0.00045
NM_005660.3(SLC35A2):c.1078G>A (p.Val360Ile) rs138190020 0.00045
NM_006265.3(RAD21):c.468A>G (p.Gln156=) rs530697556 0.00045
NM_012330.4(KAT6B):c.4441C>G (p.Leu1481Val) rs567260713 0.00045
NM_013275.6(ANKRD11):c.-158G>T rs1048978329 0.00045
NM_013275.6(ANKRD11):c.6111C>G (p.Val2037=) rs376468392 0.00045
NM_013275.6(ANKRD11):c.6112A>G (p.Lys2038Glu) rs200724087 0.00045
NM_014244.5(ADAMTS2):c.2073C>T (p.Arg691=) rs149391669 0.00045
NM_017617.5(NOTCH1):c.5403A>G (p.Ser1801=) rs201358664 0.00045
NM_017617.5(NOTCH1):c.7390C>T (p.Leu2464=) rs372760677 0.00045
NM_021830.5(TWNK):c.384C>T (p.Ser128=) rs148234280 0.00045
NM_080605.4(B3GALT6):c.485G>A (p.Arg162Gln) rs376811907 0.00045
NM_000036.3(AMPD1):c.195C>T (p.Ser65=) rs150208948 0.00044
NM_000088.4(COL1A1):c.3424-6C>A rs370865189 0.00044
NM_000093.5(COL5A1):c.2751G>A (p.Pro917=) rs200319017 0.00044
NM_000138.5(FBN1):c.7098C>T (p.Asp2366=) rs1005074 0.00044
NM_000214.3(JAG1):c.2329C>T (p.Pro777Ser) rs202063628 0.00044
NM_000789.4(ACE):c.460G>A (p.Ala154Thr) rs13306087 0.00044
NM_001148.6(ANK2):c.670-10A>G rs374372032 0.00044
NM_001291867.2(NHS):c.1596G>A (p.Glu532=) rs146437542 0.00044
NM_001308093.3(GATA4):c.918C>T (p.Pro306=) rs147050993 0.00044
NM_001330078.2(NRXN1):c.2605C>A (p.Leu869Met) rs201818223 0.00044
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile) rs142334798 0.00044
NM_003072.5(SMARCA4):c.708T>C (p.Pro236=) rs62639303 0.00044
NM_003611.3(OFD1):c.1654+9C>T rs200007045 0.00044
NM_004004.6(GJB2):c.-22-6T>C rs141962118 0.00044
NM_004260.4(RECQL4):c.3143A>G (p.Lys1048Arg) rs202203322 0.00044
NM_004260.4(RECQL4):c.355-8C>T rs368782236 0.00044
NM_004380.3(CREBBP):c.5770G>A (p.Val1924Met) rs368145743 0.00044
NM_004380.3(CREBBP):c.5865G>A (p.Ala1955=) rs554810606 0.00044
NM_004782.4(SNAP29):c.265G>A (p.Glu89Lys) rs151146863 0.00044
NM_005465.7(AKT3):c.807C>T (p.Tyr269=) rs150205993 0.00044
NM_006306.4(SMC1A):c.2862+14C>T rs180705944 0.00044
NM_006767.4(LZTR1):c.2022C>T (p.Asp674=) rs145303406 0.00044
NM_015443.4(KANSL1):c.2481C>T (p.Ser827=) rs143653891 0.00044
NM_015450.3(POT1):c.-34T>C rs202009081 0.00044
NM_015713.5(RRM2B):c.*2236A>T rs566194929 0.00044
NM_017617.5(NOTCH1):c.3831C>T (p.Asp1277=) rs374989581 0.00044
NM_018238.4(AGK):c.424-11T>C rs200973491 0.00044
NM_020436.5(SALL4):c.2218C>G (p.Pro740Ala) rs149359253 0.00044
NM_020975.6(RET):c.*576G>A rs185408658 0.00044
NM_000047.3(ARSL):c.897C>T (p.His299=) rs148471739 0.00043
NM_000057.4(BLM):c.3798T>G (p.Val1266=) rs138831180 0.00043
NM_000088.4(COL1A1):c.1984-7C>G rs376886366 0.00043
NM_000138.5(FBN1):c.*43A>T rs144710695 0.00043
NM_000138.5(FBN1):c.3890A>G (p.Glu1297Gly) rs200342067 0.00043
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489 0.00043
NM_000256.3(MYBPC3):c.3699G>A (p.Gln1233=) rs200162906 0.00043
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp) rs143464326 0.00043
NM_001083962.2(TCF4):c.341G>A (p.Arg114Lys) rs139876825 0.00043
NM_001083962.2(TCF4):c.936C>T (p.Ser312=) rs368270265 0.00043
NM_001114753.3(ENG):c.1233C>T (p.Ser411=) rs137870512 0.00043
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp) rs148579886 0.00043
NM_001407.3(CELSR3):c.9098G>A (p.Arg3033His) rs201004738 0.00043
NM_001429.4(EP300):c.3063T>C (p.Thr1021=) rs142431552 0.00043
NM_002617.4(PEX10):c.627G>A (p.Glu209=) rs141430704 0.00043
NM_002693.3(POLG):c.3274-19G>A rs116925016 0.00043
NM_003482.4(KMT2D):c.2052T>A (p.Pro684=) rs200116899 0.00043
NM_003722.5(TP63):c.*627T>C rs184452906 0.00043
NM_004304.5(ALK):c.3057C>A (p.Val1019=) rs138406372 0.00043
NM_004333.6(BRAF):c.2127+3A>G rs371976102 0.00043
NM_005045.4(RELN):c.6520G>A (p.Glu2174Lys) rs146877597 0.00043
NM_005751.5(AKAP9):c.3072G>C (p.Val1024=) rs151038875 0.00043
NM_012293.3(PXDN):c.921A>G (p.Thr307=) rs117914830 0.00043
NM_017617.5(NOTCH1):c.3901+3G>A rs373113999 0.00043
NM_017617.5(NOTCH1):c.7449G>A (p.Thr2483=) rs375728200 0.00043
NM_017780.4(CHD7):c.360C>T (p.Gly120=) rs375438732 0.00043
NM_018238.4(AGK):c.1088C>T (p.Thr363Met) rs142069429 0.00043
NM_020436.5(SALL4):c.2493A>G (p.Arg831=) rs79909922 0.00043
NM_020436.5(SALL4):c.2649C>T (p.Ser883=) rs772770482 0.00043
NM_020964.3(EPG5):c.3391A>G (p.Ile1131Val) rs3744997 0.00043
NM_020975.6(RET):c.*1644G>C rs117119161 0.00043
NM_021625.5(TRPV4):c.152C>T (p.Pro51Leu) rs115861965 0.00043
NM_021625.5(TRPV4):c.1539C>T (p.Gly513=) rs141295418 0.00043
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser) rs141551053 0.00043
NM_022114.4(PRDM16):c.2692-10A>G rs754274180 0.00043
NM_022336.4(EDAR):c.243A>G (p.Lys81=) rs145518416 0.00043
NM_023110.3(FGFR1):c.320C>T (p.Ser107Leu) rs140382957 0.00043
NM_024312.5(GNPTAB):c.3335+13C>T rs187256830 0.00043
NM_024312.5(GNPTAB):c.3598G>A (p.Glu1200Lys) rs137853825 0.00043
NM_024757.5(EHMT1):c.204T>C (p.Asn68=) rs3812496 0.00043
NM_032861.4(SERAC1):c.22G>A (p.Val8Ile) rs115387731 0.00043
NM_173660.5(DOK7):c.1029C>T (p.Gly343=) rs375877997 0.00043
NM_176787.5(PIGN):c.364G>C (p.Glu122Gln) rs200756305 0.00043
NM_206937.2(LIG4):c.2222G>A (p.Arg741His) rs143767581 0.00043
NM_000088.4(COL1A1):c.3123C>T (p.Pro1041=) rs145608939 0.00042
NM_000256.3(MYBPC3):c.926+8C>T rs377595584 0.00042
NM_000288.4(PEX7):c.748-16C>T rs200965122 0.00042
NM_000719.7(CACNA1C):c.966C>T (p.His322=) rs112539787 0.00042
NM_001114753.3(ENG):c.687C>T (p.Ala229=) rs376919650 0.00042
NM_001122681.2(SH3BP2):c.1151G>A (p.Arg384Gln) rs143129053 0.00042
NM_001151.4(SLC25A4):c.*3110G>C rs116996106 0.00042
NM_001354604.2(MITF):c.*1491A>G rs80212793 0.00042
NM_001371623.1(TCOF1):c.4248C>T (p.Asp1416=) rs141159244 0.00042
NM_001378964.1(CDON):c.350-19G>A rs189909997 0.00042
NM_001399.5(EDA):c.1001G>A (p.Arg334His) rs142948132 0.00042
NM_001626.6(AKT2):c.1366+20G>A rs375549081 0.00042
NM_001999.4(FBN2):c.7012+7G>A rs199735209 0.00042
NM_003482.4(KMT2D):c.14643+12G>A rs186670730 0.00042
NM_003923.3(FOXH1):c.1023C>T (p.Tyr341=) rs149382395 0.00042
NM_004239.4(TRIP11):c.4139C>T (p.Thr1380Ile) rs117748213 0.00042
NM_005529.7(HSPG2):c.10588C>T (p.Arg3530Trp) rs2270699 0.00042
NM_005629.4(SLC6A8):c.1626C>T (p.Tyr542=) rs140601882 0.00042
NM_005732.4(RAD50):c.260G>A (p.Arg87His) rs374561375 0.00042
NM_006265.3(RAD21):c.1617A>G (p.Glu539=) rs138040512 0.00042
NM_006939.4(SOS2):c.2162-10C>T rs375702667 0.00042
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_015338.6(ASXL1):c.1923C>T (p.Ile641=) rs551524526 0.00042
NM_015443.4(KANSL1):c.571G>T (p.Gly191Cys) rs149566146 0.00042
NM_021625.5(TRPV4):c.1093G>A (p.Val365Met) rs570675468 0.00042
NM_022455.5(NSD1):c.3564G>C (p.Arg1188Ser) rs199814669 0.00042
NM_147127.5(EVC2):c.3468G>A (p.Leu1156=) rs201460514 0.00042
NM_152594.3(SPRED1):c.30C>A (p.Asn10Lys) rs201692618 0.00042
NM_000093.5(COL5A1):c.2089-9C>T rs181246690 0.00041
NM_000093.5(COL5A1):c.924+14G>A rs200595318 0.00041
NM_000116.5(TAFAZZIN):c.542-20C>T rs373841640 0.00041
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val) rs138417003 0.00041
NM_000147.5(FUCA1):c.969+18T>A rs140246387 0.00041
NM_000218.3(KCNQ1):c.811C>T (p.Leu271=) rs189991547 0.00041
NM_000233.4(LHCGR):c.371G>A (p.Arg124Gln) rs140788691 0.00041
NM_000263.4(NAGLU):c.1119G>T (p.Val373=) rs371656965 0.00041
NM_000264.5(PTCH1):c.3907C>T (p.Arg1303Cys) rs56102979 0.00041
NM_000368.5(TSC1):c.*3538A>G rs533324867 0.00041
NM_000489.6(ATRX):c.2169G>C (p.Glu723Asp) rs61752456 0.00041
NM_000528.4(MAN2B1):c.135C>T (p.Ala45=) rs200413076 0.00041
NM_000528.4(MAN2B1):c.630+12G>C rs368271384 0.00041
NM_001039958.2(MESP2):c.185G>A (p.Arg62Gln) rs566641514 0.00041
NM_001040436.3(YARS2):c.870T>C (p.Val290=) rs142067801 0.00041
NM_001134831.2(AHI1):c.989A>G (p.Asp330Gly) rs200201741 0.00041
NM_001151.4(SLC25A4):c.*1245T>A rs77959660 0.00041
NM_001159773.2(CANT1):c.*1732T>C rs184171534 0.00041
NM_001203.3(BMPR1B):c.1384-8T>C rs201359647 0.00041
NM_001378964.1(CDON):c.2535A>G (p.Leu845=) rs149843751 0.00041
NM_001999.4(FBN2):c.8043C>A (p.Pro2681=) rs149502195 0.00041
NM_002272.4(KRT4):c.224G>A (p.Gly75Glu) rs200665579 0.00041
NM_002857.4(PEX19):c.254C>T (p.Ala85Val) rs11550119 0.00041
NM_003000.3(SDHB):c.158G>A (p.Gly53Glu) rs34916635 0.00041
NM_003611.3(OFD1):c.1543-19C>G rs201761130 0.00041
NM_003611.3(OFD1):c.919G>A (p.Val307Ile) rs139444990 0.00041
NM_004260.4(RECQL4):c.1576C>T (p.Leu526Phe) rs200732690 0.00041
NM_004304.5(ALK):c.3067+17del rs781479217 0.00041
NM_004813.4(PEX16):c.149-6C>T rs78883829 0.00041
NM_005045.4(RELN):c.5344C>T (p.Arg1782Cys) rs138576725 0.00041
NM_005045.4(RELN):c.5822T>C (p.Val1941Ala) rs149837553 0.00041
NM_005751.5(AKAP9):c.6918G>A (p.Gln2306=) rs188264356 0.00041
NM_006121.4(KRT1):c.1294C>T (p.Arg432Cys) rs142781300 0.00041
NM_006494.4(ERF):c.405G>A (p.Val135=) rs144678577 0.00041
NM_006939.4(SOS2):c.2959-20T>C rs375042033 0.00041
NM_006939.4(SOS2):c.3744G>T (p.Trp1248Cys) rs138133010 0.00041
NM_006939.4(SOS2):c.3830T>C (p.Leu1277Pro) rs146802994 0.00041
NM_013275.6(ANKRD11):c.3826G>A (p.Ala1276Thr) rs139239852 0.00041
NM_013275.6(ANKRD11):c.5481C>G (p.Pro1827=) rs142469039 0.00041
NM_015713.5(RRM2B):c.540A>G (p.Lys180=) rs200301242 0.00041
NM_017617.5(NOTCH1):c.2325C>T (p.Tyr775=) rs749686245 0.00041
NM_018127.7(ELAC2):c.1692C>T (p.Arg564=) rs117582762 0.00041
NM_018486.3(HDAC8):c.351G>T (p.Gly117=) rs199969298 0.00041
NM_020436.5(SALL4):c.2162C>T (p.Thr721Met) rs147195029 0.00041
NM_021625.5(TRPV4):c.1491+10C>T rs201815805 0.00041
NM_021830.5(TWNK):c.76G>A (p.Gly26Ser) rs577209883 0.00041
NM_021926.4(ALX4):c.*1365C>A rs529798397 0.00041
NM_023110.3(FGFR1):c.1854+19C>T rs199830036 0.00041
NM_023110.3(FGFR1):c.2278T>C (p.Leu760=) rs201490643 0.00041
NM_024312.5(GNPTAB):c.3335+14G>A rs141927805 0.00041
NM_025132.4(WDR19):c.13+15G>A rs150633358 0.00041
NM_133259.4(LRPPRC):c.4078G>A (p.Ala1360Thr) rs147302249 0.00041
NM_152383.5(DIS3L2):c.1722G>T (p.Glu574Asp) rs191608083 0.00041
NM_153490.3(KRT13):c.1009T>C (p.Ser337Pro) rs139318123 0.00041
NM_000020.3(ACVRL1):c.681C>T (p.Ala227=) rs147005473 0.00040
NM_000093.5(COL5A1):c.126C>T (p.Leu42=) rs149369116 0.00040
NM_000141.5(FGFR2):c.2190C>T (p.Asn730=) rs55637244 0.00040
NM_000214.3(JAG1):c.1920C>T (p.Asn640=) rs372121353 0.00040
NM_000238.4(KCNH2):c.2965+14C>T rs201706355 0.00040
NM_000263.4(NAGLU):c.1557G>A (p.Arg519=) rs150905331 0.00040
NM_000264.5(PTCH1):c.945+20G>A rs374618901 0.00040
NM_000466.3(PEX1):c.2718+3A>G rs370536529 0.00040
NM_000501.4(ELN):c.326G>A (p.Gly109Asp) rs145519139 0.00040
NM_001083614.2(EARS2):c.580G>A (p.Val194Met) rs76634881 0.00040
NM_001106.4(ACVR2B):c.*1429C>T rs188712951 0.00040
NM_001148.6(ANK2):c.198C>T (p.Asn66=) rs146964054 0.00040
NM_001329943.3(KIAA0586):c.1129+11del rs142477754 0.00040
NM_001378964.1(CDON):c.726G>A (p.Glu242=) rs142667570 0.00040
NM_001999.4(FBN2):c.4246A>G (p.Thr1416Ala) rs200837433 0.00040
NM_002693.3(POLG):c.1712+10G>A rs55962804 0.00040
NM_003118.4(SPARC):c.120+8G>T rs199756185 0.00040
NM_003482.4(KMT2D):c.6235-6C>G rs373858319 0.00040
NM_004525.3(LRP2):c.6048C>T (p.Ala2016=) rs144449508 0.00040
NM_005027.4(PIK3R2):c.1809-17A>G rs199501065 0.00040
NM_005445.4(SMC3):c.2535+15T>G rs3818903 0.00040
NM_005529.7(HSPG2):c.4396-5C>T rs117917442 0.00040
NM_005592.4(MUSK):c.2203G>A (p.Glu735Lys) rs138418494 0.00040
NM_014244.5(ADAMTS2):c.2085+11A>G rs139255728 0.00040
NM_016204.4(GDF2):c.34C>T (p.Leu12=) rs61758973 0.00040
NM_018122.5(DARS2):c.580G>A (p.Val194Ile) rs186723843 0.00040
NM_021926.4(ALX4):c.*4105C>T rs560087261 0.00040
NM_021939.4(FKBP10):c.1374G>A (p.Pro458=) rs201069033 0.00040
NM_022114.4(PRDM16):c.102G>A (p.Ala34=) rs374918897 0.00040
NM_023110.3(FGFR1):c.1553-13G>A rs17182414 0.00040
NM_025136.4(OPA3):c.*7181G>A rs74253369 0.00040
NC_000007.14:g.156769273C>T rs546513589 0.00039
NM_000052.7(ATP7A):c.2452A>G (p.Thr818Ala) rs201788154 0.00039
NM_000168.6(GLI3):c.2245A>G (p.Ile749Val) rs140048578 0.00039
NM_000475.5(NR0B1):c.600C>G (p.Cys200Trp) rs143141578 0.00039
NM_001018113.3(FANCB):c.1658C>T (p.Thr553Met) rs146157131 0.00039
NM_001024630.4(RUNX2):c.859+10A>T rs200115506 0.00039
NM_001101.5(ACTB):c.984+15T>C rs372551192 0.00039
NM_001329943.3(KIAA0586):c.3104G>A (p.Gly1035Asp) rs77860620 0.00039
NM_001370259.2(MEN1):c.18C>T (p.Ala6=) rs369348210 0.00039
NM_001378964.1(CDON):c.3631+9G>A rs189386496 0.00039
NM_001384732.1(CPLANE1):c.6860G>A (p.Ser2287Asn) rs147451628 0.00039
NM_001854.4(COL11A1):c.2901A>C (p.Gly967=) rs149526015 0.00039
NM_002272.4(KRT4):c.548A>G (p.Asn183Ser) rs199768158 0.00039
NM_002386.4(MC1R):c.133T>C (p.Phe45Leu) rs61996344 0.00039
NM_002386.4(MC1R):c.401T>C (p.Phe134Ser) rs564161331 0.00039
NM_003072.5(SMARCA4):c.3738C>T (p.Phe1246=) rs139943231 0.00039
NM_003244.4(TGIF1):c.723G>A (p.Pro241=) rs114912664 0.00039
NM_004304.5(ALK):c.2451C>T (p.Gly817=) rs183314518 0.00039
NM_004836.7(EIF2AK3):c.2532T>C (p.Ser844=) rs56094918 0.00039
NM_005465.7(AKT3):c.792C>T (p.Ser264=) rs77764554 0.00039
NM_005633.4(SOS1):c.*1085A>G rs539192287 0.00039
NM_005751.5(AKAP9):c.81G>A (p.Ser27=) rs145936668 0.00039
NM_006015.6(ARID1A):c.393G>C (p.Gly131=) rs768590350 0.00039
NM_006121.4(KRT1):c.*95G>A rs144520865 0.00039
NM_006306.4(SMC1A):c.2824C>T (p.Leu942=) rs139654605 0.00039
NM_017617.5(NOTCH1):c.3326-11A>C rs377648586 0.00039
NM_017617.5(NOTCH1):c.7369C>G (p.Leu2457Val) rs61755043 0.00039
NM_020975.6(RET):c.*1348G>A rs149252070 0.00039
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214 0.00039
NM_020975.6(RET):c.2037C>T (p.Pro679=) rs55862116 0.00039
NM_022336.4(EDAR):c.147G>A (p.Pro49=) rs149582563 0.00039
NM_022336.4(EDAR):c.960C>T (p.Ala320=) rs10432616 0.00039
NM_024426.6(WT1):c.375C>T (p.Gly125=) rs776209354 0.00039
NM_024809.5(TCTN2):c.571T>G (p.Ser191Ala) rs146698907 0.00039
NM_130837.3(OPA1):c.2984-4A>G rs184273607 0.00039
NM_138959.3(VANGL1):c.*47G>T rs190792695 0.00039
NM_181486.4(TBX5):c.354T>C (p.Asp118=) rs151249768 0.00039
NM_182961.4(SYNE1):c.19692+3G>A rs150304757 0.00039
NM_198239.2(CCN6):c.248G>A (p.Gly83Glu) rs147337485 0.00039
NM_000044.6(AR):c.1792A>G (p.Ser598Gly) rs142280455 0.00038
NM_000057.4(BLM):c.816G>A (p.Lys272=) rs139295905 0.00038
NM_000088.4(COL1A1):c.1132C>G (p.Pro378Ala) rs764381074 0.00038
NM_000088.4(COL1A1):c.462C>T (p.Gly154=) rs41317351 0.00038
NM_000093.5(COL5A1):c.1281G>A (p.Pro427=) rs147292897 0.00038
NM_000093.5(COL5A1):c.3069C>T (p.Pro1023=) rs139070070 0.00038
NM_000138.5(FBN1):c.2895G>A (p.Glu965=) rs140591 0.00038
NM_000168.6(GLI3):c.*1623A>G rs183853326 0.00038
NM_000168.6(GLI3):c.3984C>T (p.Leu1328=) rs148940743 0.00038
NM_000218.3(KCNQ1):c.1860C>T (p.His620=) rs139893266 0.00038
NM_000256.3(MYBPC3):c.3787C>T (p.Arg1263Trp) rs370338674 0.00038
NM_000302.4(PLOD1):c.1756-13C>T rs370882934 0.00038
NM_000393.5(COL5A2):c.3310-17T>A rs201791446 0.00038
NM_000393.5(COL5A2):c.745-13G>A rs145442880 0.00038
NM_000553.6(WRN):c.1989G>A (p.Thr663=) rs201982706 0.00038
NM_001018113.3(FANCB):c.1393T>C (p.Ser465Pro) rs143976596 0.00038
NM_001018113.3(FANCB):c.2452A>G (p.Arg818Gly) rs143131218 0.00038
NM_001083962.2(TCF4):c.*708T>A rs186018055 0.00038
NM_001148.6(ANK2):c.7267G>A (p.Ala2423Thr) rs3733616 0.00038
NM_001278689.2(EOGT):c.71C>G (p.Pro24Arg) rs140016031 0.00038
NM_001291867.2(NHS):c.258A>G (p.Gly86=) rs1026332275 0.00038
NM_001368894.2(PAX6):c.1179A>C (p.Thr393=) rs143477661 0.00038
NM_001368894.2(PAX6):c.753G>A (p.Val251=) rs145329506 0.00038
NM_001374828.1(ARID1B):c.3188A>T (p.Gln1063Leu) rs139620600 0.00038
NM_003072.5(SMARCA4):c.1791T>G (p.Pro597=) rs141806282 0.00038
NM_003244.4(TGIF1):c.228C>A (p.His76Gln) rs146127624 0.00038
NM_003923.3(FOXH1):c.361C>A (p.Arg121=) rs371301968 0.00038
NM_004273.5(CHST3):c.1003G>A (p.Glu335Lys) rs150466838 0.00038
NM_004380.3(CREBBP):c.3158C>T (p.Pro1053Leu) rs142008620 0.00038
NM_004380.3(CREBBP):c.4119C>T (p.Pro1373=) rs3025679 0.00038
NM_004560.4(ROR2):c.2684A>G (p.Asp895Gly) rs149826387 0.00038
NM_005045.4(RELN):c.6166C>T (p.Pro2056Ser) rs200409290 0.00038
NM_005629.4(SLC6A8):c.1496-8C>T rs376038235 0.00038
NM_006015.6(ARID1A):c.5076C>T (p.Asn1692=) rs149468118 0.00038
NM_012330.4(KAT6B):c.4239A>G (p.Glu1413=) rs140636550 0.00038
NM_012414.4(RAB3GAP2):c.2807-15G>A rs200407685 0.00038
NM_014846.4(WASHC5):c.2668-19C>T rs368313044 0.00038
NM_015443.4(KANSL1):c.635A>G (p.His212Arg) rs141110759 0.00038
NM_015570.4(AUTS2):c.1295C>A (p.Pro432His) rs767529359 0.00038
NM_017617.5(NOTCH1):c.2646A>T (p.Ala882=) rs61751550 0.00038
NM_018055.5(NODAL):c.357C>T (p.Pro119=) rs77151171 0.00038
NM_018699.4(PRDM5):c.743+14G>A rs185567213 0.00038
NM_022356.4(P3H1):c.2152C>G (p.Pro718Ala) rs533729683 0.00038
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg) rs201857437 0.00038
NM_022552.5(DNMT3A):c.1443C>T (p.Tyr481=) rs145465364 0.00038
NM_023110.3(FGFR1):c.*1211G>T rs185104092 0.00038
NM_024665.7(TBL1XR1):c.1251-13C>G rs764679582 0.00038
NM_030632.3(ASXL3):c.3162C>T (p.Leu1054=) rs369994676 0.00038
NM_032444.4(SLX4):c.231A>G (p.Gln77=) rs143279888 0.00038
NM_133433.4(NIPBL):c.5011-13A>G rs13177643 0.00038
NM_145068.4(TRPV3):c.852C>T (p.His284=) rs144990390 0.00038
NM_152383.5(DIS3L2):c.2010+20G>A rs374190053 0.00038
NM_153717.3(EVC):c.1995G>A (p.Ser665=) rs142897994 0.00038
NM_170665.4(ATP2A2):c.545-7C>T rs369585470 0.00038
NM_181486.4(TBX5):c.*1373G>T rs192527148 0.00038
NM_000052.7(ATP7A):c.4389T>C (p.Ser1463=) rs371939448 0.00037
NM_000088.4(COL1A1):c.2668-12A>G rs200355573 0.00037
NM_000093.5(COL5A1):c.*424A>G rs574355137 0.00037
NM_000168.6(GLI3):c.3889C>T (p.Leu1297=) rs145618226 0.00037
NM_000218.3(KCNQ1):c.1800G>A (p.Thr600=) rs147091980 0.00037
NM_000264.5(PTCH1):c.*1889G>A rs565918654 0.00037
NM_000264.5(PTCH1):c.3169-12G>A rs371887033 0.00037
NM_000489.6(ATRX):c.3641A>T (p.Asn1214Ile) rs144527582 0.00037
NM_000890.5(KCNJ5):c.744G>A (p.Glu248=) rs144040058 0.00037
NM_001001433.3(STX16):c.594C>T (p.Phe198=) rs146333716 0.00037
NM_001005498.4(RHBDF2):c.704G>A (p.Arg235Gln) rs145136848 0.00037
NM_001042492.3(NF1):c.731-6A>C rs369366499 0.00037
NM_001083962.2(TCF4):c.504A>G (p.Val168=) rs370160994 0.00037
NM_001114753.3(ENG):c.1633G>A (p.Gly545Ser) rs142896669 0.00037
NM_001122681.2(SH3BP2):c.1122C>T (p.Pro374=) rs149122170 0.00037
NM_001130144.3(LTBP3):c.3435C>T (p.Asp1145=) rs534239532 0.00037
NM_001271938.2(MEGF8):c.5524G>C (p.Val1842Leu) rs143508185 0.00037
NM_001291867.2(NHS):c.3785C>T (p.Thr1262Met) rs141013518 0.00037
NM_001329943.3(KIAA0586):c.4311A>G (p.Glu1437=) rs536603405 0.00037
NM_003140.3(SRY):c.465C>T (p.Ser155=) rs11575897 0.00037
NM_004656.4(BAP1):c.288G>A (p.Leu96=) rs117382883 0.00037
NM_005982.4(SIX1):c.615T>G (p.Pro205=) rs148433316 0.00037
NM_013275.6(ANKRD11):c.1258G>A (p.Val420Met) rs147180412 0.00037
NM_014780.4(CUL7):c.-269A>G rs377101095 0.00037
NM_015100.4(POGZ):c.945T>C (p.Asn315=) rs144073313 0.00037
NM_020529.3(NFKBIA):c.78G>A (p.Leu26=) rs8192285 0.00037
NM_022458.4(LMBR1):c.*2667A>T rs187134101 0.00037
NM_133433.4(NIPBL):c.4731A>G (p.Glu1577=) rs140021654 0.00037
NM_145068.4(TRPV3):c.1503+15C>T rs369415284 0.00037
NM_181486.4(TBX5):c.*739T>C rs117414057 0.00037
NM_000052.7(ATP7A):c.610+19A>G rs367724628 0.00036
NM_000052.7(ATP7A):c.864T>C (p.Cys288=) rs142521666 0.00036
NM_000136.3(FANCC):c.457-18A>G rs377206543 0.00036
NM_000202.8(IDS):c.666C>T (p.Ala222=) rs201588028 0.00036
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys) rs199669878 0.00036
NM_000264.5(PTCH1):c.2479A>G (p.Ser827Gly) rs199476092 0.00036
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln) rs56023271 0.00036
NM_000284.4(PDHA1):c.899+12G>A rs376730441 0.00036
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu) rs118203504 0.00036
NM_000368.5(TSC1):c.250G>A (p.Ala84Thr) rs118203357 0.00036
NM_000528.4(MAN2B1):c.748G>T (p.Ala250Ser) rs3745650 0.00036
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg) rs121912775 0.00036
NM_000719.7(CACNA1C):c.5639G>A (p.Arg1880Gln) rs182208896 0.00036
NM_000965.5(RARB):c.270G>A (p.Gly90=) rs116825683 0.00036
NM_001018113.3(FANCB):c.2090C>T (p.Pro697Leu) rs147255018 0.00036
NM_001082486.2(ACD):c.99+18G>A rs369046068 0.00036
NM_001083962.2(TCF4):c.790-9T>C rs373434281 0.00036
NM_001113378.2(FANCI):c.1992+10T>C rs375345390 0.00036
NM_001126049.2(KLLN):c.-840G>A rs563841270 0.00036
NM_001148.6(ANK2):c.2727T>A (p.Thr909=) rs144548535 0.00036
NM_001358530.2(MOCS1):c.96C>T (p.Pro32=) rs746347427 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_001384732.1(CPLANE1):c.1736C>T (p.Ala579Val) rs191239995 0.00036
NM_001394062.1(MACF1):c.18004G>A (p.Glu6002Lys) rs201968058 0.00036
NM_001626.6(AKT2):c.204G>A (p.Pro68=) rs139479466 0.00036
NM_001844.5(COL2A1):c.870+11C>T rs191695664 0.00036
NM_001999.4(FBN2):c.7263G>A (p.Gln2421=) rs114376818 0.00036
NM_002471.4(MYH6):c.5140C>A (p.Arg1714=) rs140651265 0.00036
NM_002834.5(PTPN11):c.137+35G>A rs727505387 0.00036
NM_003052.5(SLC34A1):c.1416+5G>A rs202081023 0.00036
NM_003052.5(SLC34A1):c.74G>A (p.Arg25Gln) rs112528230 0.00036
NM_003070.5(SMARCA2):c.1806C>T (p.Thr602=) rs202136878 0.00036
NM_003482.4(KMT2D):c.10392G>A (p.Gly3464=) rs367726813 0.00036
NM_003482.4(KMT2D):c.711G>A (p.Glu237=) rs192397485 0.00036
NM_003924.4(PHOX2B):c.591C>G (p.Gly197=) rs144414806 0.00036
NM_004260.4(RECQL4):c.2426G>A (p.Gly809Glu) rs550469990 0.00036
NM_005027.4(PIK3R2):c.323-15del rs573541270 0.00036
NM_005359.6(SMAD4):c.*412A>G rs28403611 0.00036
NM_005465.7(AKT3):c.46+12G>A rs184404650 0.00036
NM_005629.4(SLC6A8):c.1516G>A (p.Asp506Asn) rs201526436 0.00036
NM_005660.3(SLC35A2):c.561C>T (p.Ala187=) rs370394797 0.00036
NM_005996.4(TBX3):c.1625C>T (p.Ala542Val) rs201325654 0.00036
NM_012293.3(PXDN):c.270A>G (p.Thr90=) rs147536472 0.00036
NM_013275.6(ANKRD11):c.5578C>T (p.Pro1860Ser) rs144516367 0.00036
NM_014780.5(CUL7):c.1542G>T (p.Gln514His) rs146808129 0.00036
NM_014795.4(ZEB2):c.1276T>A (p.Leu426Ile) rs201881288 0.00036
NM_015443.4(KANSL1):c.2294C>T (p.Ala765Val) rs151099014 0.00036
NM_015559.3(SETBP1):c.1581T>G (p.Ala527=) rs150136756 0.00036
NM_017777.4(MKS1):c.515+12C>T rs372527189 0.00036
NM_017780.4(CHD7):c.6216C>G (p.Pro2072=) rs199828744 0.00036
NM_017849.4(TMEM127):c.53C>T (p.Pro18Leu) rs377740271 0.00036
NM_018127.7(ELAC2):c.9G>C (p.Ala3=) rs764509473 0.00036
NM_020320.5(RARS2):c.879-6T>C rs117516147 0.00036
NM_020529.3(NFKBIA):c.554C>T (p.Thr185Met) rs142195196 0.00036
NM_020975.6(RET):c.200G>A (p.Arg67His) rs192489011 0.00036
NM_021625.5(TRPV4):c.1546A>G (p.Ile516Val) rs115976458 0.00036
NM_022370.4(ROBO3):c.1331-3C>T rs117828759 0.00036
NM_023110.3(FGFR1):c.*113G>A rs180885042 0.00036
NM_024426.6(WT1):c.216G>T (p.Gln72His) rs5030135 0.00036
NM_030632.3(ASXL3):c.1890G>A (p.Gly630=) rs372179902 0.00036
NM_032861.4(SERAC1):c.1659G>A (p.Ser553=) rs114493681 0.00036
NM_052859.4(RFT1):c.436C>T (p.His146Tyr) rs201794647 0.00036
NM_052989.3(IFT122):c.2625C>T (p.Asn875=) rs76572254 0.00036
NM_133433.4(NIPBL):c.198C>G (p.Val66=) rs146033170 0.00036
NM_133433.4(NIPBL):c.961A>C (p.Arg321=) rs138720101 0.00036
NM_138959.3(VANGL1):c.*3598A>G rs187286147 0.00036
NM_139057.4(ADAMTS17):c.*692G>C rs187035332 0.00036
NM_144966.5(FREM1):c.*1299A>G rs149242359 0.00036
NM_145861.4(EDARADD):c.*967A>G rs193138062 0.00036
NM_198253.3(TERT):c.2582+11C>T rs180675821 0.00036
NM_000071.3(CBS):c.1223+13G>A rs533660793 0.00035
NM_000088.4(COL1A1):c.334-5C>A rs115997082 0.00035
NM_000138.5(FBN1):c.*2395G>A rs184719603 0.00035
NM_000202.8(IDS):c.1074C>G (p.Pro358=) rs61736891 0.00035
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299 0.00035
NM_000325.6(PITX2):c.862C>T (p.Leu288=) rs139401187 0.00035
NM_000503.6(EYA1):c.35G>A (p.Arg12His) rs74720958 0.00035
NM_000719.7(CACNA1C):c.1390+11G>A rs376570105 0.00035
NM_000891.3(KCNJ2):c.*996C>T rs77958248 0.00035
NM_001011658.4(TRAPPC2):c.*546G>A rs777240291 0.00035
NM_001106.4(ACVR2B):c.1444C>T (p.Arg482Trp) rs144370188 0.00035
NM_001148.6(ANK2):c.4123-19T>G rs199938838 0.00035
NM_001358530.2(MOCS1):c.1752G>A (p.Arg584=) rs77225343 0.00035
NM_001368894.2(PAX6):c.978C>T (p.Gly326=) rs115833025 0.00035
NM_001429.4(EP300):c.6951G>A (p.Arg2317=) rs139551099 0.00035
NM_002272.4(KRT4):c.766G>A (p.Val256Met) rs201754946 0.00035
NM_002381.5(MATN3):c.792G>A (p.Ala264=) rs201563567 0.00035
NM_002470.4(MYH3):c.1881G>A (p.Thr627=) rs140144159 0.00035
NM_002470.4(MYH3):c.3729+9C>T rs201955505 0.00035
NM_002693.3(POLG):c.2427-12C>G rs199815957 0.00035
NM_002834.5(PTPN11):c.*838G>A rs142648640 0.00035
NM_003070.5(SMARCA2):c.4479C>T (p.Ile1493=) rs111380592 0.00035
NM_003334.4(UBA1):c.1242C>T (p.Ser414=) rs369843264 0.00035
NM_004208.4(AIFM1):c.1075+20A>G rs373642288 0.00035
NM_004304.5(ALK):c.2204+15G>C rs200910314 0.00035
NM_004304.5(ALK):c.2632+16C>T rs200835934 0.00035
NM_004560.4(ROR2):c.730C>T (p.Arg244Trp) rs148340413 0.00035
NM_005188.4(CBL):c.1942A>C (p.Ser648Arg) rs143264567 0.00035
NM_005751.5(AKAP9):c.3580G>A (p.Ala1194Thr) rs139965373 0.00035
NM_006567.5(FARS2):c.462G>T (p.Ala154=) rs150477330 0.00035
NM_015443.4(KANSL1):c.1653-11C>T rs201471275 0.00035
NM_015450.3(POT1):c.846C>T (p.Asn282=) rs142704514 0.00035
NM_016464.5(TMEM138):c.216C>T (p.Asn72=) rs145939072 0.00035
NM_017617.5(NOTCH1):c.432C>T (p.Cys144=) rs373713957 0.00035
NM_017617.5(NOTCH1):c.6429C>T (p.Asn2143=) rs369845924 0.00035
NM_017780.4(CHD7):c.1666-15A>G rs372978951 0.00035
NM_017780.4(CHD7):c.8047C>T (p.Pro2683Ser) rs201319489 0.00035
NM_018026.4(PACS1):c.631T>C (p.Leu211=) rs151082834 0.00035
NM_020964.3(EPG5):c.586G>A (p.Gly196Ser) rs565743896 0.00035
NM_022114.4(PRDM16):c.2508C>T (p.Gly836=) rs374271999 0.00035
NM_022458.4(LMBR1):c.*2761G>A rs182572414 0.00035
NM_133459.4(CCBE1):c.156C>T (p.Ile52=) rs2288598 0.00035
NM_207034.3(EDN3):c.426G>A (p.Ala142=) rs187049336 0.00035
NM_000057.4(BLM):c.1467G>A (p.Arg489=) rs56257041 0.00034
NM_000088.4(COL1A1):c.3815-18T>C rs373624129 0.00034
NM_000093.5(COL5A1):c.*479G>A rs184272423 0.00034
NM_000093.5(COL5A1):c.4683A>C (p.Gly1561=) rs149959668 0.00034
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala) rs201273753 0.00034
NM_000316.3(PTH1R):c.375G>A (p.Glu125=) rs138339848 0.00034
NM_000316.3(PTH1R):c.75+9C>T rs200710310 0.00034
NM_000368.5(TSC1):c.*3988G>A rs563835484 0.00034
NM_000368.5(TSC1):c.*405A>G rs560193480 0.00034
NM_000414.4(HSD17B4):c.948A>G (p.Ala316=) rs192301957 0.00034
NM_000466.3(PEX1):c.939T>C (p.His313=) rs199647157 0.00034
NM_000501.4(ELN):c.366A>G (p.Gly122=) rs61734587 0.00034
NM_000501.4(ELN):c.647G>T (p.Gly216Val) rs145612009 0.00034
NM_000501.4(ELN):c.931G>A (p.Ala311Thr) rs41376344 0.00034
NM_000512.5(GALNS):c.1001A>G (p.Gln334Arg) rs138555898 0.00034
NM_000553.6(WRN):c.2088+20A>G rs540283267 0.00034
NM_001001433.3(STX16):c.-550G>A rs148071494 0.00034
NM_001011658.4(TRAPPC2):c.-97G>A rs746032983 0.00034
NM_001018115.3(FANCD2):c.3466+10C>T rs200208121 0.00034
NM_001042492.3(NF1):c.*1164G>A rs140110377 0.00034
NM_001044385.3(TMEM237):c.475A>G (p.Thr159Ala) rs199500256 0.00034
NM_001083962.2(TCF4):c.966T>C (p.Asp322=) rs142998298 0.00034
NM_001122681.2(SH3BP2):c.*689C>T rs549653099 0.00034
NM_001374353.1(GLI2):c.1632+11G>A rs140347335 0.00034
NM_001999.4(FBN2):c.4472-11A>T rs528062851 0.00034
NM_001999.4(FBN2):c.6666G>A (p.Pro2222=) rs192923239 0.00034
NM_002857.4(PEX19):c.347-13T>A rs371091340 0.00034
NM_003070.5(SMARCA2):c.689A>C (p.Gln230Pro) rs145635937 0.00034
NM_003072.5(SMARCA4):c.2973+14G>A rs372877301 0.00034
NM_003073.5(SMARCB1):c.*33T>G rs11541580 0.00034
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812 0.00034
NM_003334.4(UBA1):c.176+13A>G rs186890744 0.00034
NM_003482.4(KMT2D):c.6811C>T (p.Pro2271Ser) rs199802471 0.00034
NM_003611.3(OFD1):c.276T>C (p.Ser92=) rs201675886 0.00034
NM_003722.5(TP63):c.678C>T (p.Arg226=) rs61732782 0.00034
NM_004208.4(AIFM1):c.1458G>A (p.Leu486=) rs762808288 0.00034
NM_004260.4(RECQL4):c.2724T>C (p.Leu908=) rs368908286 0.00034
NM_004370.6(COL12A1):c.1188A>C (p.Ala396=) rs202153313 0.00034
NM_004370.6(COL12A1):c.5635G>A (p.Ala1879Thr) rs184585202 0.00034
NM_004370.6(COL12A1):c.6281C>A (p.Thr2094Asn) rs201567848 0.00034
NM_004370.6(COL12A1):c.8320-19T>C rs369006332 0.00034
NM_004456.5(EZH2):c.657T>C (p.Pro219=) rs148843424 0.00034
NM_004525.3(LRP2):c.2511C>T (p.Ala837=) rs375313914 0.00034
NM_004525.3(LRP2):c.3434C>T (p.Ser1145Leu) rs140061784 0.00034
NM_004551.3(NDUFS3):c.628-7C>T rs11039306 0.00034
NM_005045.4(RELN):c.1483A>G (p.Ile495Val) rs150850005 0.00034
NM_005751.5(AKAP9):c.4164G>A (p.Ser1388=) rs146831402 0.00034
NM_005982.4(SIX1):c.402G>A (p.Lys134=) rs151189392 0.00034
NM_006939.4(SOS2):c.2854G>A (p.Asp952Asn) rs200387871 0.00034
NM_012123.4(MTO1):c.1637+16A>G rs201990339 0.00034
NM_013275.6(ANKRD11):c.5766C>T (p.Ala1922=) rs373393326 0.00034
NM_014423.4(AFF4):c.339C>T (p.Pro113=) rs143884299 0.00034
NM_014780.5(CUL7):c.3416T>C (p.Ile1139Thr) rs77965460 0.00034
NM_015335.5(MED13L):c.4758G>A (p.Pro1586=) rs141818426 0.00034
NM_018026.4(PACS1):c.1838+9T>C rs145783184 0.00034
NM_019892.6(INPP5E):c.1387+14C>T rs368410258 0.00034
NM_020975.6(RET):c.1158G>A (p.Ala386=) rs373540097 0.00034
NM_022114.4(PRDM16):c.1566G>T (p.Leu522Phe) rs554705536 0.00034
NM_022114.4(PRDM16):c.2952C>T (p.Cys984=) rs200234106 0.00034
NM_023110.3(FGFR1):c.1398C>T (p.Pro466=) rs150652786 0.00034
NM_024426.6(WT1):c.*12C>T rs77462662 0.00034
NM_024665.7(TBL1XR1):c.865-19C>T rs375720678 0.00034
NM_024757.5(EHMT1):c.1865A>G (p.Asn622Ser) rs184814386 0.00034
NM_030632.3(ASXL3):c.1925C>T (p.Pro642Leu) rs189786599 0.00034
NM_030662.4(MAP2K2):c.1140C>T (p.Ala380=) rs146618055 0.00034
NM_030662.4(MAP2K2):c.893C>T (p.Pro298Leu) rs200371894 0.00034
NM_147127.5(EVC2):c.1882G>A (p.Glu628Lys) rs186197620 0.00034
NM_147127.5(EVC2):c.2310G>T (p.Trp770Cys) rs572056540 0.00034
NM_194318.4(B3GLCT):c.902A>T (p.Tyr301Phe) rs114184584 0.00034
NM_000093.5(COL5A1):c.3991G>A (p.Asp1331Asn) rs545973022 0.00033
NM_000136.3(FANCC):c.*5C>T rs117175949 0.00033
NM_000141.5(FGFR2):c.-135C>T rs554557891 0.00033
NM_000393.5(COL5A2):c.1017A>C (p.Gly339=) rs140609193 0.00033
NM_000414.4(HSD17B4):c.1503+12T>G rs111239597 0.00033
NM_000514.4(GDNF):c.*1199A>T rs77668737 0.00033
NM_000719.7(CACNA1C):c.5444G>C (p.Arg1815Thr) rs374425919 0.00033
NM_000719.7(CACNA1C):c.916+15C>T rs201265381 0.00033
NM_000891.3(KCNJ2):c.*1125G>A rs191729421 0.00033
NM_000891.3(KCNJ2):c.*35A>C rs72552029 0.00033
NM_001005498.4(RHBDF2):c.213G>A (p.Glu71=) rs146553433 0.00033
NM_001375405.1(CEP120):c.1431-11_1431-9del rs776090638 0.00033
NM_001378615.1(CC2D2A):c.3399-15T>C rs181612746 0.00033
NM_001379081.2(FREM1):c.4875A>C (p.Lys1625Asn) rs117881664 0.00033
NM_001379200.1(TBX1):c.540-16C>T rs200786105 0.00033
NM_001399.5(EDA):c.60A>C (p.Arg20=) rs183801635 0.00033
NM_002272.4(KRT4):c.*30T>A rs372075566 0.00033
NM_002485.5(NBN):c.425A>G (p.Asn142Ser) rs769414 0.00033
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys) rs201477273 0.00033
NM_002834.5(PTPN11):c.*1805C>T rs188162577 0.00033
NM_003334.4(UBA1):c.1486G>A (p.Glu496Lys) rs140950898 0.00033
NM_005359.6(SMAD4):c.1392C>T (p.Ala464=) rs140487104 0.00033
NM_005629.4(SLC6A8):c.1649C>G (p.Thr550Ser) rs199635059 0.00033
NM_005751.5(AKAP9):c.4825A>C (p.Arg1609=) rs143473598 0.00033
NM_005751.5(AKAP9):c.9214-6T>C rs377532409 0.00033
NM_006015.6(ARID1A):c.4779G>T (p.Arg1593=) rs140978841 0.00033
NM_006859.4(LIAS):c.944G>A (p.Arg315His) rs145535775 0.00033
NM_006941.4(SOX10):c.753G>A (p.Ser251=) rs376907937 0.00033
NM_007373.4(SHOC2):c.704-16G>T rs185614302 0.00033
NM_012330.4(KAT6B):c.4633G>A (p.Val1545Ile) rs145158232 0.00033
NM_014423.4(AFF4):c.919-7T>G rs369449554 0.00033
NM_014795.4(ZEB2):c.759C>T (p.Arg253=) rs150853991 0.00033
NM_015338.6(ASXL1):c.2337T>G (p.Pro779=) rs143613684 0.00033
NM_017617.5(NOTCH1):c.1038C>T (p.His346=) rs376951155 0.00033
NM_017780.4(CHD7):c.1188G>T (p.Met396Ile) rs201653177 0.00033
NM_020436.5(SALL4):c.2835C>T (p.Asp945=) rs143702441 0.00033
NM_021830.5(TWNK):c.241C>G (p.Leu81Val) rs145068570 0.00033
NM_152281.3(GORAB):c.*1298T>C rs185248405 0.00033
NM_198173.3(GRHL3):c.612+9G>A rs201895291 0.00033
NM_000044.6(AR):c.1616+12C>T rs375988329 0.00032
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945 0.00032
NM_000088.4(COL1A1):c.588+16G>A rs191715075 0.00032
NM_000089.4(COL1A2):c.2425C>T (p.Pro809Ser) rs145355907 0.00032
NM_000093.5(COL5A1):c.5370+11C>T rs764644830 0.00032
NM_000168.6(GLI3):c.3015C>T (p.Ala1005=) rs200965852 0.00032
NM_000214.3(JAG1):c.2604T>C (p.Ser868=) rs138189639 0.00032
NM_000264.5(PTCH1):c.1913G>A (p.Arg638His) rs145766839 0.00032
NM_000284.4(PDHA1):c.252G>A (p.Gln84=) rs144828838 0.00032
NM_000288.4(PEX7):c.94C>T (p.Leu32=) rs886061118 0.00032
NM_000393.5(COL5A2):c.*446G>A rs570467727 0.00032
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) rs137854861 0.00032
NM_000503.6(EYA1):c.966+4C>T rs139429307 0.00032
NM_001042492.3(NF1):c.1933A>G (p.Met645Val) rs146051850 0.00032
NM_001042492.3(NF1):c.4851A>G (p.Gln1617=) rs150309802 0.00032
NM_001083962.2(TCF4):c.*5369C>T rs75090842 0.00032
NM_001148.6(ANK2):c.8240G>A (p.Arg2747His) rs142137451 0.00032
NM_001367561.1(DOCK7):c.519+17T>G rs745941706 0.00032
NM_001368809.2(AMPD2):c.532-18G>A rs41314005 0.00032
NM_002880.4(RAF1):c.321-14T>A rs3730270 0.00032
NM_003036.4(SKI):c.516C>T (p.Pro172=) rs182513685 0.00032
NM_003738.5(PTCH2):c.3340C>T (p.Leu1114=) rs372274925 0.00032
NM_005592.4(MUSK):c.2573G>A (p.Arg858His) rs34115159 0.00032
NM_005629.4(SLC6A8):c.1162G>A (p.Ala388Thr) rs374163604 0.00032
NM_005629.4(SLC6A8):c.544G>A (p.Val182Met) rs149024147 0.00032
NM_005982.4(SIX1):c.578A>T (p.Asn193Ile) rs142301715 0.00032
NM_006015.6(ARID1A):c.4879C>G (p.Pro1627Ala) rs151074395 0.00032
NM_015335.5(MED13L):c.2239-7T>C rs144147395 0.00032
NM_015338.6(ASXL1):c.3933T>C (p.Ala1311=) rs143779557 0.00032
NM_015443.4(KANSL1):c.2698G>A (p.Gly900Arg) rs74867664 0.00032
NM_017617.5(NOTCH1):c.3042G>A (p.Thr1014=) rs371532644 0.00032
NM_017780.4(CHD7):c.1958C>T (p.Pro653Leu) rs200536932 0.00032
NM_022455.5(NSD1):c.639C>T (p.Ser213=) rs755931458 0.00032
NM_030662.4(MAP2K2):c.93-20A>C rs189388604 0.00032
NM_133433.4(NIPBL):c.1891G>T (p.Val631Leu) rs142820200 0.00032
NM_153603.4(COG7):c.170-4A>G rs544015151 0.00032
NM_198525.3(KIF7):c.516G>A (p.Glu172=) rs199959946 0.00032
NM_000020.3(ACVRL1):c.1348A>G (p.Thr450Ala) rs146206499 0.00031
NM_000020.3(ACVRL1):c.88C>T (p.Pro30Ser) rs149664056 0.00031
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His) rs121912682 0.00031
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256 0.00031
NM_000088.4(COL1A1):c.1002+10G>T rs368316440 0.00031
NM_000088.4(COL1A1):c.1876-10C>T rs370308401 0.00031
NM_000088.4(COL1A1):c.2467C>G (p.Pro823Ala) rs1800214 0.00031
NM_000093.5(COL5A1):c.3006+17C>T rs140528268 0.00031
NM_000135.4(FANCA):c.480G>A (p.Met160Ile) rs200603300 0.00031
NM_000233.4(LHCGR):c.161+9A>G rs573699597 0.00031
NM_000393.5(COL5A2):c.2230-16T>A rs375334470 0.00031
NM_000501.4(ELN):c.1999C>T (p.Pro667Ser) rs142316834 0.00031
NM_001018113.3(FANCB):c.2477C>T (p.Thr826Met) rs201436396 0.00031
NM_001042492.3(NF1):c.1137C>T (p.Cys379=) rs139648455 0.00031
NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val) rs146315101 0.00031
NM_001134831.2(AHI1):c.3329-7A>G rs370808684 0.00031
NM_001148.6(ANK2):c.7488A>G (p.Thr2496=) rs143161930 0.00031
NM_001276345.2(TNNT2):c.720-13_720-11del rs397516480 0.00031
NM_001360.3(DHCR7):c.126C>T (p.Ser42=) rs150928869 0.00031
NM_001365902.3(NFIX):c.1284G>A (p.Pro428=) rs761114067 0.00031
NM_001365999.1(SZT2):c.4176C>T (p.Thr1392=) rs373047934 0.00031
NM_001368894.2(PAX6):c.*841C>T rs530931929 0.00031
NM_001371623.1(TCOF1):c.4099A>C (p.Lys1367Gln) rs201234047 0.00031
NM_001374353.1(GLI2):c.4170G>A (p.Pro1390=) rs200149538 0.00031
NM_001384732.1(CPLANE1):c.5820+7C>T rs185534019 0.00031
NM_002010.3(FGF9):c.*2325A>G rs143740722 0.00031
NM_002335.4(LRP5):c.675C>T (p.Asp225=) rs138207107 0.00031
NM_003482.4(KMT2D):c.4935G>A (p.Leu1645=) rs368977026 0.00031
NM_003482.4(KMT2D):c.5124A>G (p.Thr1708=) rs374724784 0.00031
NM_003923.3(FOXH1):c.*55C>T rs192907579 0.00031
NM_004064.5(CDKN1B):c.114C>T (p.His38=) rs141178987 0.00031
NM_004064.5(CDKN1B):c.476-5C>T rs370509436 0.00031
NM_004064.5(CDKN1B):c.476-6G>A rs376695255 0.00031
NM_004204.5(PIGQ):c.322G>A (p.Glu108Lys) rs200388707 0.00031
NM_004380.3(CREBBP):c.3024C>T (p.Pro1008=) rs144649776 0.00031
NM_004380.3(CREBBP):c.3982+9C>T rs114668693 0.00031
NM_005027.4(PIK3R2):c.1986C>T (p.Asp662=) rs749028997 0.00031
NM_005027.4(PIK3R2):c.302G>A (p.Arg101His) rs367971686 0.00031
NM_005045.4(RELN):c.2944A>C (p.Ile982Leu) rs143972828 0.00031
NM_005045.4(RELN):c.5668A>G (p.Ile1890Val) rs147026512 0.00031
NM_005045.4(RELN):c.9340A>G (p.Ile3114Val) rs149613347 0.00031
NM_005188.4(CBL):c.1287C>T (p.Ile429=) rs148368481 0.00031
NM_005257.6(GATA6):c.1516+17G>A rs371870484 0.00031
NM_005751.5(AKAP9):c.948A>G (p.Val316=) rs767404316 0.00031
NM_005982.4(SIX1):c.-14G>T rs374228886 0.00031
NM_005982.4(SIX1):c.162G>A (p.Ala54=) rs150550985 0.00031
NM_006015.6(ARID1A):c.4053C>T (p.Gly1351=) rs200122106 0.00031
NM_006939.4(SOS2):c.2640A>G (p.Ser880=) rs146730136 0.00031
NM_014704.4(CEP104):c.2234C>T (p.Pro745Leu) rs201407033 0.00031
NM_016204.4(GDF2):c.776A>G (p.Asn259Ser) rs140271276 0.00031
NM_017617.5(NOTCH1):c.186G>C (p.Pro62=) rs374320445 0.00031
NM_020754.4(ARHGAP31):c.4096G>A (p.Val1366Met) rs3796360 0.00031
NM_020806.5(GPHN):c.2176+9T>C rs74939746 0.00031
NM_020964.3(EPG5):c.3984-20C>G rs143737072 0.00031
NM_020975.6(RET):c.1050C>T (p.Thr350=) rs142188675 0.00031
NM_021939.4(FKBP10):c.1014C>T (p.Arg338=) rs143903650 0.00031
NM_022166.4(XYLT1):c.1272G>A (p.Ala424=) rs144531370 0.00031
NM_022168.4(IFIH1):c.103C>T (p.Leu35=) rs75342243 0.00031
NM_022168.4(IFIH1):c.2392A>G (p.Ile798Val) rs758387388 0.00031
NM_025114.4(CEP290):c.5226+19T>C rs547955106 0.00031
NM_030777.4(SLC2A10):c.746A>G (p.Asn249Ser) rs531533787 0.00031
NM_133433.4(NIPBL):c.1986A>C (p.Lys662Asn) rs781213650 0.00031
NM_139125.4(MASP1):c.1507C>T (p.Arg503Cys) rs201025468 0.00031
NM_145068.4(TRPV3):c.2185C>T (p.Arg729Ter) rs11654533 0.00031
NM_153603.4(COG7):c.1852G>A (p.Ala618Thr) rs145412851 0.00031
NM_170784.3(MKKS):c.416G>A (p.Arg139Gln) rs145045986 0.00031
NM_198173.3(GRHL3):c.205-3C>A rs200425622 0.00031
NM_198253.3(TERT):c.1932G>A (p.Thr644=) rs148582238 0.00031
NM_198525.3(KIF7):c.3665-5G>A rs79532879 0.00031
NM_000088.4(COL1A1):c.1768-8C>T rs193922142 0.00030
NM_000256.3(MYBPC3):c.772+10C>T rs375525278 0.00030
NM_000264.5(PTCH1):c.*787C>T rs144656847 0.00030
NM_000280.4(PAX6):c.*4627A>C rs140971065 0.00030
NM_000368.5(TSC1):c.1977G>A (p.Ala659=) rs35958226 0.00030
NM_001042492.3(NF1):c.6922-16A>G rs202158964 0.00030
NM_001174147.2(LMX1B):c.1200C>T (p.Phe400=) rs372183654 0.00030
NM_001203.3(BMPR1B):c.300C>T (p.Asn100=) rs140499888 0.00030
NM_001291415.2(KDM6A):c.3301-16T>G rs201370572 0.00030
NM_001999.4(FBN2):c.*274C>T rs140550329 0.00030
NM_002386.4(MC1R):c.555C>T (p.His185=) rs199920775 0.00030
NM_002485.5(NBN):c.1690G>A (p.Glu564Lys) rs72550742 0.00030
NM_003072.5(SMARCA4):c.4179G>A (p.Glu1393=) rs201879930 0.00030
NM_003482.4(KMT2D):c.5952C>A (p.Pro1984=) rs587783721 0.00030
NM_004333.6(BRAF):c.2235A>G (p.Leu745=) rs56046546 0.00030
NM_004380.3(CREBBP):c.2616G>A (p.Thr872=) rs781112420 0.00030
NM_005219.5(DIAPH1):c.2032C>T (p.Pro678Ser) rs186370335 0.00030
NM_005996.4(TBX3):c.-366G>T rs527797282 0.00030
NM_006494.4(ERF):c.1614G>A (p.Thr538=) rs183334082 0.00030
NM_012330.4(KAT6B):c.6162C>T (p.His2054=) rs192237531 0.00030
NM_014244.5(ADAMTS2):c.2439C>T (p.His813=) rs141661592 0.00030
NM_014423.4(AFF4):c.1051-13T>A rs202109434 0.00030
NM_015922.3(NSDHL):c.*129C>T rs145978994 0.00030
NM_017617.5(NOTCH1):c.1100-8C>T rs545088400 0.00030
NM_017780.4(CHD7):c.2831G>A (p.Arg944His) rs117506164 0.00030
NM_017780.4(CHD7):c.6483T>A (p.His2161Gln) rs185505138 0.00030
NM_018486.3(HDAC8):c.933G>A (p.Thr311=) rs183108231 0.00030
NM_020458.4(TTC7A):c.1204-9C>T rs574765911 0.00030
NM_153427.2(PITX2):c.-1311G>T rs192250966 0.00030
NM_181486.4(TBX5):c.1115C>T (p.Ser372Leu) rs143068551 0.00030
NM_198253.3(TERT):c.2991G>A (p.Val997=) rs376266401 0.00030
NM_000071.3(CBS):c.600G>A (p.Pro200=) rs181472622 0.00029
NM_000088.4(COL1A1):c.1983+9G>C rs201091992 0.00029
NM_000088.4(COL1A1):c.2414C>T (p.Pro805Leu) rs145307365 0.00029
NM_000088.4(COL1A1):c.3876C>T (p.Asn1292=) rs143049736 0.00029
NM_000090.4(COL3A1):c.3642C>A (p.Gly1214=) rs184402915 0.00029
NM_000138.5(FBN1):c.2175T>C (p.Asn725=) rs140606 0.00029
NM_000141.5(FGFR2):c.*674G>T rs566155088 0.00029
NM_000214.3(JAG1):c.2344+15C>G rs200139177 0.00029
NM_000218.3(KCNQ1):c.1794+11G>A rs186188610 0.00029
NM_000233.4(LHCGR):c.*7C>T rs200256443 0.00029
NM_000238.4(KCNH2):c.2454G>A (p.Ser818=) rs72549418 0.00029
NM_000238.4(KCNH2):c.3063C>T (p.Ser1021=) rs199767579 0.00029
NM_000287.4(PEX6):c.25C>T (p.Leu9=) rs183449855 0.00029
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584 0.00029
NM_000325.6(PITX2):c.639A>T (p.Ser213=) rs141176394 0.00029
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg) rs199473183 0.00029
NM_000368.5(TSC1):c.346T>G (p.Leu116Val) rs199620268 0.00029
NM_000393.5(COL5A2):c.2291C>G (p.Pro764Arg) rs150260969 0.00029
NM_000489.6(ATRX):c.4957-20T>C rs373789026 0.00029
NM_000501.4(ELN):c.*562A>C rs539096901 0.00029
NM_000501.4(ELN):c.1747+82C>A rs186744935 0.00029
NM_000557.5(GDF5):c.-39C>T rs149907722 0.00029
NM_000719.7(CACNA1C):c.984C>T (p.Asn328=) rs374050127 0.00029
NM_000925.4(PDHB):c.204+9A>C rs202068841 0.00029
NM_001018005.2(TPM1):c.563+313A>G rs144700226 0.00029
NM_001018113.3(FANCB):c.1371C>T (p.Val457=) rs149695930 0.00029
NM_001042492.3(NF1):c.1976G>A (p.Arg659Gln) rs151138158 0.00029
NM_001042492.3(NF1):c.7322-16A>G rs369168102 0.00029
NM_001101.5(ACTB):c.822C>A (p.Ile274=) rs377390140 0.00029
NM_001122681.2(SH3BP2):c.543C>T (p.Asp181=) rs201371505 0.00029
NM_001130144.3(LTBP3):c.2458G>A (p.Asp820Asn) rs140268486 0.00029
NM_001134831.2(AHI1):c.1270A>G (p.Ile424Val) rs562905902 0.00029
NM_001134831.2(AHI1):c.2589G>A (p.Glu863=) rs147279669 0.00029
NM_001148.6(ANK2):c.9825T>G (p.Asp3275Glu) rs149043752 0.00029
NM_001276345.2(TNNT2):c.41+16A>G rs370729174 0.00029
NM_001329943.3(KIAA0586):c.2735C>T (p.Pro912Leu) rs139493302 0.00029
NM_001354604.2(MITF):c.*286G>A rs187361634 0.00029
NM_001366722.1(GRIP1):c.1199-7C>G rs200313638 0.00029
NM_001366722.1(GRIP1):c.692C>T (p.Ala231Val) rs150958775 0.00029
NM_001371623.1(TCOF1):c.2970G>A (p.Ser990=) rs370130791 0.00029
NM_001378964.1(CDON):c.77-11T>C rs200967203 0.00029
NM_001379081.2(FREM1):c.4859T>C (p.Val1620Ala) rs190763692 0.00029
NM_001379286.1(ZNF423):c.3012C>G (p.Pro1004=) rs200127497 0.00029
NM_001379286.1(ZNF423):c.630C>T (p.Ala210=) rs186529267 0.00029
NM_001429.4(EP300):c.6481A>G (p.Met2161Val) rs188035979 0.00029
NM_001614.5(ACTG1):c.126C>T (p.Gly42=) rs11549197 0.00029
NM_001999.4(FBN2):c.1057A>G (p.Thr353Ala) rs149992874 0.00029
NM_001999.4(FBN2):c.4454A>G (p.Asp1485Gly) rs199665922 0.00029
NM_002010.3(FGF9):c.*318G>A rs17070736 0.00029
NM_002470.4(MYH3):c.1521C>T (p.Ile507=) rs140685610 0.00029
NM_002470.4(MYH3):c.412G>A (p.Glu138Lys) rs191837780 0.00029
NM_002834.5(PTPN11):c.48A>G (p.Ala16=) rs372736227 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_003482.4(KMT2D):c.14202C>T (p.Asp4734=) rs200979074 0.00029
NM_003482.4(KMT2D):c.7545C>T (p.Pro2515=) rs373469160 0.00029
NM_003482.4(KMT2D):c.840-6C>T rs182926808 0.00029
NM_003995.4(NPR2):c.999C>T (p.Ile333=) rs28764009 0.00029
NM_004304.5(ALK):c.2526C>T (p.Ala842=) rs145271283 0.00029
NM_004560.4(ROR2):c.1491G>A (p.Pro497=) rs146347005 0.00029
NM_005592.4(MUSK):c.500T>C (p.Ile167Thr) rs202045225 0.00029
NM_005629.4(SLC6A8):c.1767+15C>T rs370331295 0.00029
NM_005751.5(AKAP9):c.2589G>A (p.Glu863=) rs147158224 0.00029
NM_006015.6(ARID1A):c.6659A>G (p.Asn2220Ser) rs139576809 0.00029
NM_006494.4(ERF):c.673C>T (p.Leu225=) rs35578793 0.00029
NM_006939.4(SOS2):c.3952C>T (p.Pro1318Ser) rs140995728 0.00029
NM_014140.4(SMARCAL1):c.1785C>T (p.Ile595=) rs145825654 0.00029
NM_014140.4(SMARCAL1):c.270C>T (p.His90=) rs150591090 0.00029
NM_014141.6(CNTNAP2):c.2190C>T (p.Cys730=) rs74354654 0.00029
NM_014795.4(ZEB2):c.2601G>A (p.Lys867=) rs139369265 0.00029
NM_015311.3(OBSL1):c.1599G>A (p.Thr533=) rs149009269 0.00029
NM_015631.6(TCTN3):c.889-8G>A rs374331871 0.00029
NM_016035.5(COQ4):c.96C>A (p.Asp32Glu) rs545007629 0.00029
NM_016204.4(GDF2):c.615G>A (p.Leu205=) rs141350776 0.00029
NM_017617.5(NOTCH1):c.2226C>T (p.Asp742=) rs201889382 0.00029
NM_017617.5(NOTCH1):c.4548C>T (p.Phe1516=) rs199740882 0.00029
NM_017780.4(CHD7):c.4437G>A (p.Gly1479=) rs41265246 0.00029
NM_018026.4(PACS1):c.2294-7_2294-6del rs534796219 0.00029
NM_018238.4(AGK):c.877+15G>A rs201052151 0.00029
NM_020964.3(EPG5):c.1461C>T (p.Pro487=) rs142675465 0.00029
NM_020975.6(RET):c.341G>A (p.Arg114His) rs76397662 0.00029
NM_021625.5(TRPV4):c.2043C>T (p.Gly681=) rs375633647 0.00029
NM_021926.4(ALX4):c.*2750G>A rs372769669 0.00029
NM_023110.3(FGFR1):c.2424C>G (p.Pro808=) rs374507681 0.00029
NM_023110.3(FGFR1):c.2464C>T (p.Arg822Cys) rs17182463 0.00029
NM_025114.4(CEP290):c.6078A>G (p.Gln2026=) rs763570903 0.00029
NM_025216.3(WNT10A):c.756+14C>T rs200733269 0.00029
NM_030662.4(MAP2K2):c.525C>T (p.Ile175=) rs150833333 0.00029
NM_133433.4(NIPBL):c.179A>G (p.Asn60Ser) rs142703446 0.00029
NM_139057.4(ADAMTS17):c.*425C>A rs574877864 0.00029
NM_152564.5(VPS13B):c.3751A>G (p.Thr1251Ala) rs184693266 0.00029
NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn) rs773242093 0.00029
NM_153490.3(KRT13):c.1366C>T (p.Arg456Cys) rs146666963 0.00029
NM_170707.4(LMNA):c.1584G>A (p.Thr528=) rs80356812 0.00029
NM_181458.4(PAX3):c.321+10C>A rs140960868 0.00029
NM_198253.3(TERT):c.2520G>A (p.Leu840=) rs144310369 0.00029
NM_000052.7(ATP7A):c.2709C>T (p.Cys903=) rs140838569 0.00028
NM_000088.4(COL1A1):c.*836C>T rs527358320 0.00028
NM_000089.4(COL1A2):c.2526C>T (p.Phe842=) rs41317725 0.00028
NM_000093.5(COL5A1):c.2331+16G>A rs199654385 0.00028
NM_000093.5(COL5A1):c.3474+7C>T rs550497696 0.00028
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr) rs201407189 0.00028
NM_000233.4(LHCGR):c.561A>G (p.Glu187=) rs369601921 0.00028
NM_000466.3(PEX1):c.3031G>A (p.Val1011Met) rs141650598 0.00028
NM_000553.6(WRN):c.1909C>T (p.Arg637Trp) rs148286708 0.00028
NM_000553.6(WRN):c.210-17T>G rs368380436 0.00028
NM_000860.6(HPGD):c.680A>G (p.Asn227Ser) rs117270501 0.00028
NM_001001433.3(STX16):c.*3110G>T rs148669648 0.00028
NM_001042492.3(NF1):c.*871A>T rs568276164 0.00028
NM_001114753.3(ENG):c.-63C>T rs886063476 0.00028
NM_001203.3(BMPR1B):c.*1971C>G rs191224787 0.00028
NM_001291867.2(NHS):c.1603G>A (p.Val535Met) rs367856134 0.00028
NM_001291867.2(NHS):c.1748G>A (p.Arg583His) rs143289369 0.00028
NM_001291867.2(NHS):c.513C>T (p.Leu171=) rs398124610 0.00028
NM_001354604.2(MITF):c.*235T>C rs183031244 0.00028
NM_001374353.1(GLI2):c.348C>T (p.Asn116=) rs140711756 0.00028
NM_001429.4(EP300):c.2380-18T>C rs189468196 0.00028
NM_001614.5(ACTG1):c.1113C>T (p.His371=) rs117765323 0.00028
NM_002334.4(LRP4):c.*2080T>C rs76159791 0.00028
NM_002386.4(MC1R):c.333G>A (p.Ala111=) rs368745976 0.00028
NM_002470.4(MYH3):c.3137G>A (p.Arg1046Gln) rs142002449 0.00028
NM_002470.4(MYH3):c.5274G>A (p.Lys1758=) rs377092561 0.00028
NM_003036.4(SKI):c.1767+9G>C rs181520853 0.00028
NM_003334.4(UBA1):c.132C>T (p.Asn44=) rs368727585 0.00028
NM_003482.4(KMT2D):c.13001C>T (p.Ala4334Val) rs183702050 0.00028
NM_003482.4(KMT2D):c.7607T>C (p.Phe2536Ser) rs199628497 0.00028
NM_005027.4(PIK3R2):c.104G>A (p.Arg35Gln) rs762238231 0.00028
NM_005629.4(SLC6A8):c.1584G>A (p.Pro528=) rs201838389 0.00028
NM_006147.4(IRF6):c.-44G>A rs2235376 0.00028
NM_014141.6(CNTNAP2):c.2895C>A (p.Gly965=) rs75688908 0.00028
NM_014846.4(WASHC5):c.12T>C (p.Phe4=) rs202120400 0.00028
NM_015338.6(ASXL1):c.1633C>T (p.Arg545Cys) rs137920574 0.00028
NM_016464.5(TMEM138):c.327C>T (p.Ser109=) rs201318247 0.00028
NM_017780.4(CHD7):c.444G>A (p.Arg148=) rs376455384 0.00028
NM_020964.3(EPG5):c.5618A>T (p.Glu1873Val) rs148241618 0.00028
NM_021830.5(TWNK):c.1527C>T (p.Asp509=) rs62626272 0.00028
NM_022114.4(PRDM16):c.2379G>A (p.Ser793=) rs368154998 0.00028
NM_022168.4(IFIH1):c.2016del (p.Asp673fs) rs773033563 0.00028
NM_130837.3(OPA1):c.2088G>A (p.Ala696=) rs138114609 0.00028
NM_133433.4(NIPBL):c.2447G>A (p.Arg816His) rs80358359 0.00028
NM_181486.4(TBX5):c.948G>A (p.Glu316=) rs767086503 0.00028
NM_000052.7(ATP7A):c.282G>A (p.Ala94=) rs370700841 0.00027
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr) rs149722210 0.00027
NM_000168.6(GLI3):c.3935T>G (p.Met1312Arg) rs199875457 0.00027
NM_000264.5(PTCH1):c.1216-6C>A rs186008764 0.00027
NM_000489.6(ATRX):c.1303A>G (p.Ile435Val) rs371580333 0.00027
NM_000503.6(EYA1):c.1734G>A (p.Ser578=) rs770876882 0.00027
NM_000528.4(MAN2B1):c.719G>A (p.Arg240Gln) rs11554970 0.00027
NM_001001433.3(STX16):c.*1049G>A rs559176715 0.00027
NM_001032386.2(SUOX):c.1050T>C (p.Tyr350=) rs184819190 0.00027
NM_001104631.2(PDE4D):c.*3588A>C rs547764520 0.00027
NM_001113378.2(FANCI):c.528A>G (p.Gln176=) rs145939211 0.00027
NM_001114753.3(ENG):c.1533G>A (p.Ala511=) rs140760635 0.00027
NM_001130144.3(LTBP3):c.331+10G>A rs199896239 0.00027
NM_001203.3(BMPR1B):c.*1113G>A rs139279847 0.00027
NM_001354604.2(MITF):c.1182A>G (p.Glu394=) rs137904015 0.00027
NM_001354604.2(MITF):c.1443G>A (p.Leu481=) rs150213411 0.00027
NM_001429.4(EP300):c.1990A>G (p.Met664Val) rs529145180 0.00027
NM_002296.4(LBR):c.1528G>A (p.Ala510Thr) rs78828796 0.00027
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_003611.3(OFD1):c.54A>G (p.Glu18=) rs147114577 0.00027
NM_004370.6(COL12A1):c.8925A>G (p.Gly2975=) rs190820180 0.00027
NM_004387.4(NKX2-5):c.180G>A (p.Glu60=) rs373636712 0.00027
NM_006015.6(ARID1A):c.1266C>T (p.Tyr422=) rs144272459 0.00027
NM_006939.4(SOS2):c.294A>G (p.Lys98=) rs149713664 0.00027
NM_006939.4(SOS2):c.315G>T (p.Leu105=) rs141575190 0.00027
NM_012186.3(FOXE3):c.234G>A (p.Ala78=) rs201158701 0.00027
NM_014762.4(DHCR24):c.*653G>A rs372344030 0.00027
NM_015311.3(OBSL1):c.3604G>A (p.Ala1202Thr) rs201887372 0.00027
NM_017617.5(NOTCH1):c.4921C>T (p.Pro1641Ser) rs535702482 0.00027
NM_018026.4(PACS1):c.1881T>C (p.Ala627=) rs550567165 0.00027
NM_019892.6(INPP5E):c.183G>A (p.Glu61=) rs570404672 0.00027
NM_020458.4(TTC7A):c.517+11G>A rs199559356 0.00027
NM_021922.3(FANCE):c.1116C>T (p.Ile372=) rs143234424 0.00027
NM_023110.3(FGFR1):c.359-4A>G rs185233212 0.00027
NM_024426.6(WT1):c.1182C>T (p.Arg394=) rs147939483 0.00027
NM_024537.4(CARS2):c.1308G>A (p.Ala436=) rs141349632 0.00027
NM_024809.5(TCTN2):c.1643C>T (p.Pro548Leu) rs199931630 0.00027
NM_080632.3(UPF3B):c.1072C>T (p.Arg358Cys) rs139646537 0.00027
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile) rs201963516 0.00027
NM_181458.4(PAX3):c.807C>T (p.Asn269=) rs45501393 0.00027
NM_000027.4(AGA):c.744C>T (p.Asp248=) rs148052291 0.00026
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474 0.00026
NM_000088.4(COL1A1):c.2115C>T (p.Asn705=) rs41316673 0.00026
NM_000168.6(GLI3):c.1242+8G>A rs75925934 0.00026
NM_000214.3(JAG1):c.3114T>G (p.Leu1038=) rs371805640 0.00026
NM_000214.3(JAG1):c.414G>A (p.Ala138=) rs371682149 0.00026
NM_000256.3(MYBPC3):c.1721G>A (p.Arg574Gln) rs397515922 0.00026
NM_000284.4(PDHA1):c.117+19T>A rs373859720 0.00026
NM_000284.4(PDHA1):c.396A>C (p.Arg132=) rs757654963 0.00026
NM_000314.6(PTEN):c.-1311T>C rs70937047 0.00026
NM_000393.5(COL5A2):c.2963C>T (p.Thr988Met) rs369072636 0.00026
NM_000434.4(NEU1):c.486C>T (p.Ala162=) rs115588976 0.00026
NM_000553.6(WRN):c.1530A>T (p.Glu510Asp) rs149565907 0.00026
NM_000557.5(GDF5):c.953G>C (p.Arg318Pro) rs201590447 0.00026
NM_001042492.3(NF1):c.5883G>A (p.Lys1961=) rs144808600 0.00026
NM_001042492.3(NF1):c.7554C>G (p.Ala2518=) rs141897690 0.00026
NM_001083962.2(TCF4):c.*2001G>T rs201139617 0.00026
NM_001122681.2(SH3BP2):c.1366T>C (p.Ser456Pro) rs145949614 0.00026
NM_001148.6(ANK2):c.9279C>G (p.Thr3093=) rs148851013 0.00026
NM_001174147.2(LMX1B):c.*1063T>A rs551202501 0.00026
NM_001174147.2(LMX1B):c.*3338C>G rs565879113 0.00026
NM_001203.3(BMPR1B):c.11G>A (p.Arg4Gln) rs150974461 0.00026
NM_001291415.2(KDM6A):c.2487T>A (p.Asn829Lys) rs148434372 0.00026
NM_001291867.2(NHS):c.322G>A (p.Glu108Lys) rs773995388 0.00026
NM_001291867.2(NHS):c.3959T>C (p.Val1320Ala) rs368703052 0.00026
NM_001329943.3(KIAA0586):c.202T>A (p.Ser68Thr) rs147119902 0.00026
NM_001360.3(DHCR7):c.586A>G (p.Met196Val) rs200474791 0.00026
NM_001365951.3(KIF1B):c.*3948G>A rs553404052 0.00026
NM_001367624.2(ZNF469):c.11137C>T (p.Arg3713Cys) rs748126365 0.00026
NM_001367624.2(ZNF469):c.6179C>A (p.Ser2060Tyr) rs273585623 0.00026
NM_001378615.1(CC2D2A):c.1691C>T (p.Thr564Met) rs201954181 0.00026
NM_001378615.1(CC2D2A):c.501G>T (p.Lys167Asn) rs190694237 0.00026
NM_001399.5(EDA):c.464G>A (p.Arg155His) rs144403117 0.00026
NM_001999.4(FBN2):c.2249-19A>G rs193091226 0.00026
NM_001999.4(FBN2):c.5353+16G>A rs187448568 0.00026
NM_001999.4(FBN2):c.8364+18dup rs752497923 0.00026
NM_002470.4(MYH3):c.5161-13C>T rs201674457 0.00026
NM_002641.4(PIGA):c.525T>C (p.Leu175=) rs61751426 0.00026
NM_002693.3(POLG):c.328C>T (p.His110Tyr) rs139599587 0.00026
NM_002734.5(PRKAR1A):c.678C>T (p.Ile226=) rs200592054 0.00026
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val) rs201787206 0.00026
NM_003072.5(SMARCA4):c.442G>A (p.Gly148Arg) rs138689221 0.00026
NM_003482.4(KMT2D):c.1365A>G (p.Glu455=) rs141231056 0.00026
NM_003482.4(KMT2D):c.4089C>T (p.Thr1363=) rs369601017 0.00026
NM_003611.3(OFD1):c.2376G>A (p.Glu792=) rs183241931 0.00026
NM_003722.5(TP63):c.*2625A>T rs35694511 0.00026
NM_003738.5(PTCH2):c.2559C>T (p.Pro853=) rs148265788 0.00026
NM_004004.6(GJB2):c.*1033G>A rs185790172 0.00026
NM_004239.4(TRIP11):c.107A>T (p.Asp36Val) rs186074112 0.00026
NM_004239.4(TRIP11):c.1774C>T (p.Leu592=) rs199768095 0.00026
NM_004239.4(TRIP11):c.2667T>C (p.Asp889=) rs140106241 0.00026
NM_004260.4(RECQL4):c.1872C>T (p.Val624=) rs201815449 0.00026
NM_004260.4(RECQL4):c.3495C>T (p.His1165=) rs202083938 0.00026
NM_004370.6(COL12A1):c.4613A>G (p.Asn1538Ser) rs115246424 0.00026
NM_004370.6(COL12A1):c.8622A>G (p.Pro2874=) rs368321891 0.00026
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln) rs116888866 0.00026
NM_004821.3(HAND1):c.46C>A (p.Pro16Thr) rs200556971 0.00026
NM_005045.4(RELN):c.2868C>T (p.His956=) rs362694 0.00026
NM_005045.4(RELN):c.3060C>T (p.Asp1020=) rs115886170 0.00026
NM_005045.4(RELN):c.4337A>G (p.Asn1446Ser) rs115577014 0.00026
NM_005359.6(SMAD4):c.*1659C>A rs574896468 0.00026
NM_005751.5(AKAP9):c.11135G>A (p.Arg3712Gln) rs186148498 0.00026
NM_006015.6(ARID1A):c.1131C>T (p.Thr377=) rs532591067 0.00026
NM_006941.4(SOX10):c.428+10C>G rs201638602 0.00026
NM_012330.4(KAT6B):c.4434C>T (p.Gly1478=) rs148364222 0.00026
NM_013275.6(ANKRD11):c.546G>T (p.Arg182=) rs772287589 0.00026
NM_014244.5(ADAMTS2):c.1383-16C>T rs377462612 0.00026
NM_014244.5(ADAMTS2):c.770C>A (p.Ala257Glu) rs370679548 0.00026
NM_014795.4(ZEB2):c.1438G>T (p.Ala480Ser) rs143854197 0.00026
NM_014795.4(ZEB2):c.1735A>G (p.Thr579Ala) rs140593583 0.00026
NM_015100.4(POGZ):c.2235-10T>C rs557225984 0.00026
NM_015443.4(KANSL1):c.2159G>A (p.Arg720His) rs148825937 0.00026
NM_016955.4(SEPSECS):c.1128A>G (p.Thr376=) rs368182922 0.00026
NM_017617.5(NOTCH1):c.4407C>T (p.Asn1469=) rs202231073 0.00026
NM_018026.4(PACS1):c.1839-19C>T rs201219981 0.00026
NM_018026.4(PACS1):c.637G>A (p.Val213Met) rs142653069 0.00026
NM_020774.4(MIB1):c.1830-18T>C rs201761957 0.00026
NM_021625.5(TRPV4):c.501C>T (p.Asp167=) rs77680510 0.00026
NM_022166.4(XYLT1):c.657C>T (p.Pro219=) rs146043560 0.00026
NM_024757.5(EHMT1):c.142A>G (p.Met48Val) rs145206240 0.00026
NM_024757.5(EHMT1):c.311C>T (p.Ala104Val) rs142199482 0.00026
NM_024757.5(EHMT1):c.3717-6C>G rs540561282 0.00026
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg) rs370633684 0.00026
NM_032444.4(SLX4):c.86G>A (p.Arg29His) rs149117119 0.00026
NM_138959.3(VANGL1):c.-115G>C rs181583261 0.00026
NM_145068.4(TRPV3):c.1504-15C>T rs200955758 0.00026
NM_152594.3(SPRED1):c.290A>G (p.Lys97Arg) rs556636985 0.00026
NM_181458.4(PAX3):c.126C>A (p.Gly42=) rs369680052 0.00026
NM_198525.3(KIF7):c.3202C>T (p.Arg1068Trp) rs147191956 0.00026
NM_000057.4(BLM):c.1883-19A>C rs200507632 0.00025
NM_000057.4(BLM):c.2838A>G (p.Thr946=) rs200850440 0.00025
NM_000071.3(CBS):c.33G>A (p.Gly11=) rs567323664 0.00025
NM_000075.4(CDK4):c.*751C>T rs192347082 0.00025
NM_000089.4(COL1A2):c.2163C>T (p.Gly721=) rs150670521 0.00025
NM_000093.5(COL5A1):c.5371-17G>A rs376639668 0.00025
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His) rs76784312 0.00025
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu) rs56369086 0.00025
NM_000135.4(FANCA):c.399C>T (p.His133=) rs56190097 0.00025
NM_000168.6(GLI3):c.3598C>G (p.His1200Asp) rs145069572 0.00025
NM_000264.5(PTCH1):c.2004C>T (p.Tyr668=) rs151216961 0.00025
NM_000264.5(PTCH1):c.2704-6T>C rs182321370 0.00025
NM_000501.4(ELN):c.1414+19C>T rs201440090 0.00025
NM_000528.4(MAN2B1):c.1158G>A (p.Gln386=) rs112829030 0.00025
NM_000557.5(GDF5):c.855C>T (p.Gly285=) rs149593773 0.00025
NM_000719.7(CACNA1C):c.3747C>T (p.Ile1249=) rs370576211 0.00025
NM_001010867.4(IBA57):c.279C>G (p.Arg93=) rs750061256 0.00025
NM_001122681.2(SH3BP2):c.1141G>A (p.Val381Met) rs201966956 0.00025
NM_001122681.2(SH3BP2):c.585G>A (p.Glu195=) rs200156713 0.00025
NM_001374828.1(ARID1B):c.3997C>G (p.Leu1333Val) rs138482029 0.00025
NM_002386.3(MC1R):c.*761C>A rs559928561 0.00025
NM_002485.5(NBN):c.939G>A (p.Ala313=) rs145750430 0.00025
NM_002880.4(RAF1):c.909A>C (p.Thr303=) rs5746219 0.00025
NM_003482.4(KMT2D):c.15671G>A (p.Arg5224His) rs3782356 0.00025
NM_003482.4(KMT2D):c.3906+20C>T rs375504464 0.00025
NM_003482.4(KMT2D):c.682C>G (p.Arg228Gly) rs201994402 0.00025
NM_004208.4(AIFM1):c.341C>T (p.Ala114Val) rs138662844 0.00025
NM_004239.4(TRIP11):c.754C>A (p.Arg252=) rs186197454 0.00025
NM_004333.6(BRAF):c.64G>A (p.Asp22Asn) rs397507456 0.00025
NM_005027.4(PIK3R2):c.323-16_323-15del rs374033727 0.00025
NM_005045.4(RELN):c.1144-15T>C rs2301560 0.00025
NM_005045.4(RELN):c.2954C>G (p.Ala985Gly) rs138598422 0.00025
NM_005592.4(MUSK):c.2331C>T (p.Asn777=) rs56394142 0.00025
NM_005751.5(AKAP9):c.3952+14A>G rs147955593 0.00025
NM_006329.4(FBLN5):c.862+12C>T rs202088447 0.00025
NM_006371.5(CRTAP):c.49G>A (p.Val17Met) rs200576259 0.00025
NM_007129.5(ZIC2):c.1240-10T>G rs567951541 0.00025
NM_012082.4(ZFPM2):c.258A>G (p.Lys86=) rs200972094 0.00025
NM_012186.3(FOXE3):c.831C>T (p.Gly277=) rs527783871 0.00025
NM_014795.4(ZEB2):c.2142G>A (p.Pro714=) rs201180901 0.00025
NM_021625.5(TRPV4):c.402C>A (p.Ser134Arg) rs201241092 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_022458.4(LMBR1):c.*2905T>A rs574914124 0.00025
NM_025216.3(WNT10A):c.234C>T (p.His78=) rs199802454 0.00025
NM_145054.5(CFAP52):c.810C>T (p.Ala270=) rs146548028 0.00025
NM_152564.5(VPS13B):c.11884C>G (p.Pro3962Ala) rs201483764 0.00025
NM_172201.2(KCNE2):c.29C>T (p.Thr10Met) rs199473648 0.00025
NM_000020.3(ACVRL1):c.1122G>T (p.Arg374=) rs187902433 0.00024
NM_000020.3(ACVRL1):c.817C>T (p.Leu273=) rs55802125 0.00024
NM_000044.6(AR):c.528C>A (p.Ser176Arg) rs777131133 0.00024
NM_000089.4(COL1A2):c.892-13C>G rs200532328 0.00024
NM_000090.4(COL3A1):c.*622T>C rs572369155 0.00024
NM_000093.5(COL5A1):c.4393-19C>T rs186732287 0.00024
NM_000135.4(FANCA):c.41A>G (p.Asp14Gly) rs762648754 0.00024
NM_000141.5(FGFR2):c.1085-13A>T rs41295573 0.00024
NM_000264.5(PTCH1):c.584+14C>T rs372641261 0.00024
NM_000316.3(PTH1R):c.1644C>T (p.Leu548=) rs138646765 0.00024
NM_000368.5(TSC1):c.*2628G>C rs189852768 0.00024
NM_000466.3(PEX1):c.3526G>T (p.Val1176Leu) rs200059929 0.00024
NM_000489.6(ATRX):c.1825C>G (p.Pro609Ala) rs186742436 0.00024
NM_000528.4(MAN2B1):c.1419+16C>A rs572897959 0.00024
NM_000553.6(WRN):c.3101A>T (p.Tyr1034Phe) rs200370409 0.00024
NM_000891.3(KCNJ2):c.372C>T (p.Ser124=) rs138877244 0.00024
NM_001005498.4(RHBDF2):c.613C>T (p.Arg205Cys) rs138968491 0.00024
NM_001018113.3(FANCB):c.1995C>T (p.Pro665=) rs192743430 0.00024
NM_001042492.3(NF1):c.369C>G (p.Thr123=) rs146691765 0.00024
NM_001101.5(ACTB):c.124-7T>A rs199651295 0.00024
NM_001113378.2(FANCI):c.1749T>C (p.Phe583=) rs201037656 0.00024
NM_001122681.2(SH3BP2):c.1243C>T (p.Arg415Ter) rs141262371 0.00024
NM_001130144.3(LTBP3):c.2726-13G>A rs59666890 0.00024
NM_001148.6(ANK2):c.5509G>A (p.Ala1837Thr) rs199527708 0.00024
NM_001203.3(BMPR1B):c.445C>T (p.Arg149Trp) rs34231464 0.00024
NM_001308093.3(GATA4):c.1001-4C>G rs199915980 0.00024
NM_001360.3(DHCR7):c.987C>T (p.Pro329=) rs145901607 0.00024
NM_001369268.1(ACAN):c.204A>C (p.Pro68=) rs372041880 0.00024
NM_001379200.1(TBX1):c.705C>T (p.Asn235=) rs149453540 0.00024
NM_001999.4(FBN2):c.297T>C (p.Pro99=) rs79375977 0.00024
NM_002010.3(FGF9):c.-726C>T rs531745333 0.00024
NM_002148.4(HOXD10):c.372T>G (p.Ile124Met) rs149038150 0.00024
NM_002272.4(KRT4):c.1493T>C (p.Phe498Ser) rs377399080 0.00024
NM_002386.4(MC1R):c.200G>A (p.Arg67Gln) rs34090186 0.00024
NM_002472.3(MYH8):c.3320del (p.Leu1107fs) rs751871946 0.00024
NM_002693.3(POLG):c.2541C>T (p.Ala847=) rs143810171 0.00024
NM_003070.5(SMARCA2):c.97C>T (p.Pro33Ser) rs146990134 0.00024
NM_003334.4(UBA1):c.1097A>C (p.Asn366Thr) rs149478641 0.00024
NM_003482.4(KMT2D):c.12485G>A (p.Arg4162Gln) rs201078160 0.00024
NM_003482.4(KMT2D):c.14515+20C>T rs201029346 0.00024
NM_003611.3(OFD1):c.1294A>G (p.Lys432Glu) rs142352920 0.00024
NM_003923.3(FOXH1):c.*311C>T rs74360910 0.00024
NM_004260.4(RECQL4):c.2953G>A (p.Val985Met) rs200629599 0.00024
NM_004304.5(ALK):c.4573A>G (p.Lys1525Glu) rs139437088 0.00024
NM_004333.6(BRAF):c.-5A>G rs71645936 0.00024
NM_004370.6(COL12A1):c.5677G>A (p.Gly1893Arg) rs373739940 0.00024
NM_004370.6(COL12A1):c.6068-17G>T rs200347973 0.00024
NM_004456.5(EZH2):c.1392G>A (p.Gly464=) rs202179686 0.00024
NM_004484.4(GPC3):c.876T>C (p.Ile292=) rs61754633 0.00024
NM_004560.4(ROR2):c.1959G>A (p.Leu653=) rs144549032 0.00024
NM_004565.3(PEX14):c.84+17T>C rs373584636 0.00024
NM_005045.4(RELN):c.59C>T (p.Thr20Met) rs145135688 0.00024
NM_005045.4(RELN):c.6278A>C (p.His2093Pro) rs149152189 0.00024
NM_005413.4(SIX3):c.306G>A (p.Thr102=) rs201451750 0.00024
NM_005529.7(HSPG2):c.468G>A (p.Ala156=) rs113464689 0.00024
NM_005629.4(SLC6A8):c.1020C>T (p.Asp340=) rs144252036 0.00024
NM_005629.4(SLC6A8):c.1678A>G (p.Met560Val) rs145438966 0.00024
NM_005629.4(SLC6A8):c.1778A>G (p.His593Arg) rs782560726 0.00024
NM_005660.3(SLC35A2):c.1056T>C (p.Ser352=) rs56111636 0.00024
NM_005751.5(AKAP9):c.5895G>A (p.Glu1965=) rs138928104 0.00024
NM_005982.4(SIX1):c.*1079T>A rs559116477 0.00024
NM_006412.4(AGPAT2):c.741C>T (p.Thr247=) rs117434864 0.00024
NM_012330.4(KAT6B):c.5355C>T (p.Pro1785=) rs138711901 0.00024
NM_012330.4(KAT6B):c.5749A>G (p.Ile1917Val) rs199662367 0.00024
NM_013275.6(ANKRD11):c.5553C>T (p.Tyr1851=) rs372041087 0.00024
NM_014780.5(CUL7):c.4261A>G (p.Thr1421Ala) rs191578513 0.00024
NM_015443.4(KANSL1):c.2725-7A>G rs186818985 0.00024
NM_018026.4(PACS1):c.1617C>T (p.His539=) rs113972076 0.00024
NM_020975.6(RET):c.2088G>A (p.Ser696=) rs150329150 0.00024
NM_022166.4(XYLT1):c.2358T>C (p.Asp786=) rs145615486 0.00024
NM_022458.4(LMBR1):c.*11C>T rs375283454 0.00024
NM_024757.5(EHMT1):c.3355G>A (p.Val1119Ile) rs139394414 0.00024
NM_058179.4(PSAT1):c.700G>T (p.Ala234Ser) rs145496413 0.00024
NM_152564.5(VPS13B):c.1440C>T (p.Phe480=) rs141324814 0.00024
NM_153427.2(PITX2):c.-967C>T rs368647502 0.00024
NM_181486.4(TBX5):c.*960A>G rs566107581 0.00024
NM_181486.4(TBX5):c.147+13C>A rs201290379 0.00024
NM_181486.4(TBX5):c.318T>C (p.Ile106=) rs141457646 0.00024
NM_198253.3(TERT):c.1138C>T (p.Pro380Ser) rs144756946 0.00024
NM_000057.4(BLM):c.4220G>A (p.Arg1407Lys) rs557057587 0.00023
NM_000059.4(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561 0.00023
NM_000090.4(COL3A1):c.1815+5G>A rs146652498 0.00023
NM_000093.5(COL5A1):c.*145G>A rs181323324 0.00023
NM_000168.6(GLI3):c.*332T>C rs190531579 0.00023
NM_000168.6(GLI3):c.474-4C>T rs74536326 0.00023
NM_000199.5(SGSH):c.780C>T (p.Ala260=) rs530964770 0.00023
NM_000202.8(IDS):c.727C>T (p.Pro243Ser) rs143474305 0.00023
NM_000284.4(PDHA1):c.1170T>C (p.Ser390=) rs369973813 0.00023
NM_000284.4(PDHA1):c.894A>G (p.Gly298=) rs1329322647 0.00023
NM_000325.6(PITX2):c.619A>G (p.Met207Val) rs138163892 0.00023
NM_000368.5(TSC1):c.615T>C (p.Ser205=) rs118203414 0.00023
NM_000489.6(ATRX):c.6405C>T (p.Phe2135=) rs148659669 0.00023
NM_000719.7(CACNA1C):c.5478G>A (p.Ala1826=) rs200283756 0.00023
NM_001018115.3(FANCD2):c.2877A>G (p.Gln959=) rs145953386 0.00023
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys) rs34591340 0.00023
NM_001148.6(ANK2):c.7908A>G (p.Glu2636=) rs139656907 0.00023
NM_001374828.1(ARID1B):c.7023C>T (p.His2341=) rs183572405 0.00023
NM_001378615.1(CC2D2A):c.2259C>T (p.Val753=) rs538922641 0.00023
NM_001614.5(ACTG1):c.546C>T (p.Gly182=) rs61997063 0.00023
NM_001999.4(FBN2):c.5430T>C (p.Asp1810=) rs750681115 0.00023
NM_002386.3(MC1R):c.-1016C>G rs563638700 0.00023
NM_002470.4(MYH3):c.3468C>T (p.Gly1156=) rs193224181 0.00023
NM_002968.3(SALL1):c.3915C>T (p.Asn1305=) rs140524372 0.00023
NM_003036.4(SKI):c.1474+15C>T rs369979606 0.00023
NM_003072.5(SMARCA4):c.4512C>T (p.Pro1504=) rs145435121 0.00023
NM_003334.4(UBA1):c.1296C>T (p.Leu432=) rs147825775 0.00023
NM_003334.4(UBA1):c.2793G>T (p.Leu931=) rs782340410 0.00023
NM_003482.4(KMT2D):c.7060C>T (p.Pro2354Ser) rs369458206 0.00023
NM_003611.3(OFD1):c.1129+8T>A rs199572133 0.00023
NM_003611.3(OFD1):c.2260+12G>A rs375507459 0.00023
NM_003611.3(OFD1):c.2524G>A (p.Gly842Arg) rs146047094 0.00023
NM_004064.5(CDKN1B):c.*9-9C>G rs755164166 0.00023
NM_004208.4(AIFM1):c.262A>G (p.Met88Val) rs750098055 0.00023
NM_004260.4(RECQL4):c.901G>A (p.Glu301Lys) rs34633809 0.00023
NM_004370.6(COL12A1):c.607C>A (p.Leu203Ile) rs375673671 0.00023
NM_004380.3(CREBBP):c.5934C>T (p.Asn1978=) rs754282387 0.00023
NM_004456.5(EZH2):c.1547-10C>T rs202184941 0.00023
NM_005006.7(NDUFS1):c.-64T>C rs145023130 0.00023
NM_005629.4(SLC6A8):c.1890G>C (p.Val630=) rs376385129 0.00023
NM_005629.4(SLC6A8):c.807C>T (p.Tyr269=) rs141219551 0.00023
NM_005660.3(SLC35A2):c.12T>G (p.Val4=) rs782793880 0.00023
NM_006015.6(ARID1A):c.2139A>G (p.Pro713=) rs779283100 0.00023
NM_006306.4(SMC1A):c.*1239T>C rs782502306 0.00023
NM_006306.4(SMC1A):c.*3851A>T rs782817464 0.00023
NM_007215.4(POLG2):c.457C>G (p.Leu153Val) rs149446102 0.00023
NM_012082.4(ZFPM2):c.200-8T>G rs573002259 0.00023
NM_014795.4(ZEB2):c.462G>A (p.Glu154=) rs372940559 0.00023
NM_015100.4(POGZ):c.3024A>G (p.Arg1008=) rs147095604 0.00023
NM_017780.4(CHD7):c.3222C>T (p.Ser1074=) rs199675568 0.00023
NM_018055.5(NODAL):c.548G>A (p.Arg183Gln) rs104894169 0.00023
NM_020436.5(SALL4):c.1113C>G (p.Val371=) rs77810153 0.00023
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185 0.00023
NM_145068.4(TRPV3):c.1401+4C>T rs367941175 0.00023
NM_152383.5(DIS3L2):c.951-20C>T rs201896227 0.00023
NM_153490.3(KRT13):c.765C>T (p.Val255=) rs147564962 0.00023
NM_198859.4(PRICKLE2):c.690C>T (p.Gly230=) rs144338942 0.00023
NC_000019.10:g.45529113G>A rs201078416 0.00022
NM_000052.7(ATP7A):c.177A>G (p.Pro59=) rs142463642 0.00022
NM_000093.5(COL5A1):c.5182A>G (p.Met1728Val) rs138068984 0.00022
NM_000112.4(SLC26A2):c.2046G>A (p.Leu682=) rs116657359 0.00022
NM_000214.3(JAG1):c.3507G>C (p.Arg1169=) rs138452567 0.00022
NM_000284.4(PDHA1):c.899+18G>A rs370785632 0.00022
NM_000466.3(PEX1):c.1725G>A (p.Leu575=) rs150667796 0.00022
NM_000493.4(COL10A1):c.1181C>G (p.Pro394Arg) rs201458750 0.00022
NM_000719.7(CACNA1C):c.4726+9G>A rs369267978 0.00022
NM_001999.4(FBN2):c.5670T>C (p.Cys1890=) rs74811638 0.00022
NM_001999.4(FBN2):c.6840G>T (p.Pro2280=) rs377742525 0.00022
NM_001999.4(FBN2):c.7013-7T>A rs191729449 0.00022
NM_002470.4(MYH3):c.3389G>A (p.Arg1130His) rs184919169 0.00022
NM_002474.3(MYH11):c.4579-13G>A rs181115969 0.00022
NM_002618.4(PEX13):c.142C>T (p.Leu48Phe) rs60203778 0.00022
NM_002968.3(SALL1):c.1200G>A (p.Ser400=) rs79302764 0.00022
NM_003052.5(SLC34A1):c.*315C>T rs189282945 0.00022
NM_003072.5(SMARCA4):c.3558G>A (p.Ala1186=) rs140322802 0.00022
NM_003482.4(KMT2D):c.1459C>T (p.Arg487Trp) rs367559440 0.00022
NM_003722.5(TP63):c.766+5G>A rs374425727 0.00022
NM_003995.4(NPR2):c.2643+10A>G rs200486126 0.00022
NM_004304.5(ALK):c.3291C>T (p.Cys1097=) rs370170353 0.00022
NM_004456.5(EZH2):c.1281A>G (p.Pro427=) rs530239078 0.00022
NM_005045.4(RELN):c.6458G>A (p.Gly2153Asp) rs144387303 0.00022
NM_005633.4(SOS1):c.1770G>A (p.Glu590=) rs553331572 0.00022
NM_005732.4(RAD50):c.1677C>T (p.His559=) rs142619269 0.00022
NM_005996.4(TBX3):c.1974C>T (p.Ala658=) rs370307666 0.00022
NM_013275.6(ANKRD11):c.116C>T (p.Thr39Ile) rs149152296 0.00022
NM_014795.4(ZEB2):c.304A>T (p.Ile102Phe) rs201109457 0.00022
NM_015338.6(ASXL1):c.2526T>C (p.Asn842=) rs144841799 0.00022
NM_015443.4(KANSL1):c.1124C>T (p.Ser375Leu) rs142696045 0.00022
NM_015450.3(POT1):c.1228G>C (p.Asp410His) rs79314063 0.00022
NM_016042.4(EXOSC3):c.166A>C (p.Asn56His) rs148348866 0.00022
NM_020458.4(TTC7A):c.2397G>A (p.Gln799=) rs139056071 0.00022
NM_022168.4(IFIH1):c.1623T>C (p.Ile541=) rs200947696 0.00022
NM_022356.4(P3H1):c.1428C>T (p.Gly476=) rs141786883 0.00022
NM_022455.5(NSD1):c.2968G>A (p.Glu990Lys) rs138673583 0.00022
NM_022458.4(LMBR1):c.665A>C (p.Gln222Pro) rs201194692 0.00022
NM_024426.6(WT1):c.760C>T (p.Pro254Ser) rs2234584 0.00022
NM_024757.5(EHMT1):c.32C>T (p.Ala11Val) rs200636818 0.00022
NM_024757.5(EHMT1):c.905A>G (p.Lys302Arg) rs565065320 0.00022
NM_025114.4(CEP290):c.3574-15T>A rs565414938 0.00022
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly) rs77778467 0.00022
NM_133433.4(NIPBL):c.869-16C>T rs3736396 0.00022
NM_139125.4(MASP1):c.1012-17T>C rs201766436 0.00022
NM_152383.5(DIS3L2):c.1430T>G (p.Leu477Arg) rs201719374 0.00022
NM_152564.5(VPS13B):c.1639A>G (p.Thr547Ala) rs142971568 0.00022
NM_152594.3(SPRED1):c.1226C>T (p.Ala409Val) rs751260227 0.00022
NM_153490.3(KRT13):c.947C>T (p.Thr316Ile) rs753928241 0.00022
NM_170606.3(KMT2C):c.2769+5G>T rs73728782 0.00022
NM_181458.4(PAX3):c.1118C>T (p.Pro373Leu) rs200701839 0.00022
NM_194318.4(B3GLCT):c.1010G>A (p.Arg337His) rs199794968 0.00022
NM_000044.6(AR):c.2388A>G (p.Gly796=) rs756432037 0.00021
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_000088.4(COL1A1):c.1461+16C>T rs41316648 0.00021
NM_000088.4(COL1A1):c.1691G>A (p.Arg564His) rs1800211 0.00021
NM_000089.4(COL1A2):c.981C>T (p.Arg327=) rs141762645 0.00021
NM_000090.4(COL3A1):c.1977+9C>T rs184223621 0.00021
NM_000090.4(COL3A1):c.799-11A>T rs200148262 0.00021
NM_000093.5(COL5A1):c.1440C>T (p.Pro480=) rs150940930 0.00021
NM_000093.5(COL5A1):c.1774-7C>A rs371941850 0.00021
NM_000093.5(COL5A1):c.3888G>A (p.Pro1296=) rs375631252 0.00021
NM_000202.8(IDS):c.849G>C (p.Val283=) rs147374356 0.00021
NM_000238.4(KCNH2):c.441C>T (p.His147=) rs143479939 0.00021
NM_000263.4(NAGLU):c.1350G>A (p.Gln450=) rs143689867 0.00021
NM_000264.5(PTCH1):c.3150C>T (p.Pro1050=) rs149398794 0.00021
NM_000264.5(PTCH1):c.3919C>T (p.Pro1307Ser) rs574880967 0.00021
NM_000346.4(SOX9):c.42G>A (p.Gln14=) rs769605571 0.00021
NM_000368.5(TSC1):c.*4788A>C rs576342925 0.00021
NM_000414.4(HSD17B4):c.950C>T (p.Thr317Met) rs150326995 0.00021
NM_000466.3(PEX1):c.1268A>G (p.Asn423Ser) rs200857848 0.00021
NM_000493.4(COL10A1):c.1147G>A (p.Gly383Arg) rs145378345 0.00021
NM_000493.4(COL10A1):c.1350T>C (p.Thr450=) rs139846596 0.00021
NM_000501.4(ELN):c.1747+83C>T rs191593990 0.00021
NM_000553.6(WRN):c.3820-12A>G rs374684032 0.00021
NM_001005498.4(RHBDF2):c.949G>A (p.Gly317Arg) rs144817869 0.00021
NM_001024630.4(RUNX2):c.*2612C>G rs539989584 0.00021
NM_001040167.2(LFNG):c.920G>A (p.Arg307His) rs201791522 0.00021
NM_001042492.3(NF1):c.1062+113A>G rs868553650 0.00021
NM_001106.4(ACVR2B):c.*7619C>T rs563606458 0.00021
NM_001110219.3(GJB6):c.480G>A (p.Gly160=) rs145762940 0.00021
NM_001114753.3(ENG):c.1742-13C>T rs373611252 0.00021
NM_001114753.3(ENG):c.388C>T (p.Pro130Ser) rs199840979 0.00021
NM_001148.6(ANK2):c.8388G>A (p.Pro2796=) rs369684289 0.00021
NM_001276345.2(TNNT2):c.200-11A>G rs368658464 0.00021
NM_001282531.3(ADNP):c.2310T>C (p.Phe770=) rs189595164 0.00021
NM_001291415.2(KDM6A):c.1284C>T (p.Pro428=) rs147633358 0.00021
NM_001291415.2(KDM6A):c.3300+11G>A rs377090958 0.00021
NM_001308093.3(GATA4):c.726C>T (p.Cys242=) rs1062215 0.00021
NM_001368809.2(AMPD2):c.1846T>C (p.Leu616=) rs757521991 0.00021
NM_001378964.1(CDON):c.1940C>T (p.Pro647Leu) rs200961603 0.00021
NM_001382391.1(CSPP1):c.46T>C (p.Leu16=) rs150924296 0.00021
NM_001429.4(EP300):c.6043A>G (p.Met2015Val) rs1351718424 0.00021
NM_001614.5(ACTG1):c.345C>T (p.Asn115=) rs149057480 0.00021
NM_002449.5(MSX2):c.*1178C>T rs182072112 0.00021
NM_002880.4(RAF1):c.125C>T (p.Ala42Val) rs11549992 0.00021
NM_003070.5(SMARCA2):c.3685-6C>A rs201731141 0.00021
NM_003072.5(SMARCA4):c.747C>T (p.Tyr249=) rs756224211 0.00021
NM_003098.3(SNTA1):c.909+17G>T rs376695170 0.00021
NM_003282.4(TNNI2):c.333A>G (p.Pro111=) rs201133081 0.00021
NM_003482.4(KMT2D):c.1377C>G (p.Ser459=) rs200861520 0.00021
NM_003482.4(KMT2D):c.5913C>T (p.Ser1971=) rs548965753 0.00021
NM_003588.4(CUL4B):c.65G>A (p.Gly22Asp) rs145808703 0.00021
NM_003722.5(TP63):c.*2426C>T rs568346565 0.00021
NM_003722.5(TP63):c.504C>T (p.Asn168=) rs141278696 0.00021
NM_004064.5(CDKN1B):c.-80C>T rs551236750 0.00021
NM_004304.5(ALK):c.3035C>T (p.Thr1012Met) rs35073634 0.00021
NM_004380.3(CREBBP):c.4560+14A>G rs200934101 0.00021
NM_004565.3(PEX14):c.400C>G (p.Leu134Val) rs140476337 0.00021
NM_005045.4(RELN):c.6726G>C (p.Arg2242Ser) rs201422815 0.00021
NM_005359.6(SMAD4):c.*5801T>C rs577928234 0.00021
NM_005629.4(SLC6A8):c.645-14C>T rs782227426 0.00021
NM_005629.4(SLC6A8):c.819C>T (p.Val273=) rs143750068 0.00021
NM_005633.4(SOS1):c.*1552T>A rs139679723 0.00021
NM_005751.5(AKAP9):c.3246A>G (p.Ser1082=) rs760173622 0.00021
NM_005921.2(MAP3K1):c.3783A>G (p.Gln1261=) rs201159436 0.00021
NM_005996.4(TBX3):c.*397A>C rs3741699 0.00021
NM_005996.4(TBX3):c.700A>G (p.Ile234Val) rs117465019 0.00021
NM_006329.4(FBLN5):c.621T>C (p.Asp207=) rs200178859 0.00021
NM_007373.4(SHOC2):c.*1323C>T rs371721188 0.00021
NM_012293.3(PXDN):c.481G>A (p.Glu161Lys) rs151054868 0.00021
NM_012330.4(KAT6B):c.3962A>T (p.Gln1321Leu) rs138030591 0.00021
NM_012330.4(KAT6B):c.4211G>A (p.Arg1404His) rs563033366 0.00021
NM_016169.4(SUFU):c.6G>T (p.Ala2=) rs746555296 0.00021
NM_017617.5(NOTCH1):c.2970-9C>T rs568052902 0.00021
NM_017780.4(CHD7):c.6822T>C (p.Ala2274=) rs61743849 0.00021
NM_018006.5(TRMU):c.-44G>A rs370964036 0.00021
NM_020458.4(TTC7A):c.2454C>T (p.Gly818=) rs200783396 0.00021
NM_020529.3(NFKBIA):c.337-20G>A rs371120371 0.00021
NM_020751.3(COG6):c.1827-4A>G rs375878630 0.00021
NM_021005.4(NR2F2):c.834G>A (p.Ser278=) rs199886454 0.00021
NM_021830.5(TWNK):c.1042G>A (p.Gly348Arg) rs62626271 0.00021
NM_021830.5(TWNK):c.1609T>C (p.Tyr537His) rs144001072 0.00021
NM_021922.3(FANCE):c.970-16C>T rs117779586 0.00021
NM_022114.4(PRDM16):c.1797G>A (p.Ser599=) rs201769516 0.00021
NM_022168.4(IFIH1):c.1093A>G (p.Lys365Glu) rs117608083 0.00021
NM_022168.4(IFIH1):c.1642-20A>C rs191343755 0.00021
NM_022168.4(IFIH1):c.453+5G>C rs548027236 0.00021
NM_024426.6(WT1):c.-106C>T rs867975105 0.00021
NM_052989.3(IFT122):c.1533G>A (p.Leu511=) rs183614690 0.00021
NM_058179.4(PSAT1):c.122-17T>C rs3739471 0.00021
NM_078470.6(COX15):c.664C>T (p.Arg222Cys) rs2231682 0.00021
NM_130837.3(OPA1):c.*2115G>A rs144079165 0.00021
NM_145068.4(TRPV3):c.1236C>T (p.Asn412=) rs141578451 0.00021
NM_152281.3(GORAB):c.663-12A>G rs201410218 0.00021
NM_152383.5(DIS3L2):c.1019A>G (p.Tyr340Cys) rs200027186 0.00021
NM_152564.5(VPS13B):c.6072G>A (p.Lys2024=) rs142850229 0.00021
NM_207361.6(FREM2):c.2180G>A (p.Arg727His) rs201714905 0.00021
NM_000052.7(ATP7A):c.2519A>T (p.Glu840Val) rs372318616 0.00020
NM_000052.7(ATP7A):c.2607A>G (p.Val869=) rs61053012 0.00020
NM_000088.4(COL1A1):c.957+10C>A rs376179885 0.00020
NM_000136.3(FANCC):c.1407G>A (p.Thr469=) rs79722116 0.00020
NM_000203.5(IDUA):c.1332C>T (p.Asp444=) rs545473192 0.00020
NM_000218.3(KCNQ1):c.1352G>A (p.Arg451Gln) rs199472781 0.00020
NM_000256.3(MYBPC3):c.1813G>A (p.Asp605Asn) rs376736293 0.00020
NM_000264.5(PTCH1):c.2222C>T (p.Ala741Val) rs2227971 0.00020
NM_000434.4(NEU1):c.*581G>A rs551222239 0.00020
NM_000489.6(ATRX):c.1467C>T (p.Thr489=) rs199929884 0.00020
NM_000489.6(ATRX):c.2720G>A (p.Arg907Gln) rs143413618 0.00020
NM_000501.4(ELN):c.1994-7T>G rs375277198 0.00020
NM_001018113.3(FANCB):c.1140T>A (p.Phe380Leu) rs199909156 0.00020
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=) rs142636150 0.00020
NM_001148.6(ANK2):c.3963T>C (p.Ile1321=) rs72901936 0.00020
NM_001174150.2(ARL13B):c.1032T>C (p.Gly344=) rs561410801 0.00020
NM_001203.3(BMPR1B):c.*1660T>A rs570367865 0.00020
NM_001370259.2(MEN1):c.*794G>A rs117705251 0.00020
NM_001379200.1(TBX1):c.1242C>T (p.Pro414=) rs200135498 0.00020
NM_001429.4(EP300):c.1608C>A (p.Ala536=) rs370568560 0.00020
NM_001429.4(EP300):c.324C>T (p.Ala108=) rs138876937 0.00020
NM_001999.4(FBN2):c.8049G>A (p.Gly2683=) rs138044126 0.00020
NM_002465.4(MYBPC1):c.192C>T (p.Val64=) rs143380884 0.00020
NM_002641.4(PIGA):c.273C>T (p.Tyr91=) rs61730284 0.00020
NM_003001.5(SDHC):c.120G>A (p.Arg40=) rs36097930 0.00020
NM_003072.5(SMARCA4):c.2275-10G>A rs375787249 0.00020
NM_003073.5(SMARCB1):c.1A>G (p.Met1Val) rs367768260 0.00020
NM_003482.4(KMT2D):c.5244G>A (p.Gly1748=) rs550676394 0.00020
NM_004064.5(CDKN1B):c.407A>G (p.Asp136Gly) rs546234840 0.00020
NM_004208.4(AIFM1):c.1644G>A (p.Pro548=) rs150821143 0.00020
NM_005327.7(HADH):c.*514A>G rs183594888 0.00020
NM_006306.4(SMC1A):c.3438-7C>T rs782796392 0.00020
NM_006939.4(SOS2):c.2712A>G (p.Glu904=) rs143332839 0.00020
NM_013275.6(ANKRD11):c.275G>A (p.Arg92Gln) rs143894223 0.00020
NM_013275.6(ANKRD11):c.5073G>A (p.Ala1691=) rs192176841 0.00020
NM_013275.6(ANKRD11):c.5178C>T (p.Ser1726=) rs200783129 0.00020
NM_015450.3(POT1):c.1227A>C (p.Pro409=) rs552835784 0.00020
NM_017617.5(NOTCH1):c.3528C>T (p.His1176=) rs202133782 0.00020
NM_020964.3(EPG5):c.6078C>A (p.Ala2026=) rs368663653 0.00020
NM_021625.5(TRPV4):c.1584+13C>T rs199712027 0.00020
NM_022455.5(NSD1):c.4509G>A (p.Met1503Ile) rs199574095 0.00020
NM_022725.4(FANCF):c.465A>T (p.Pro155=) rs201215734 0.00020
NM_024009.3(GJB3):c.*13G>A rs368929234 0.00020
NM_024757.5(EHMT1):c.2695A>G (p.Ile899Val) rs144085805 0.00020
NM_024757.5(EHMT1):c.312G>A (p.Ala104=) rs576731460 0.00020
NM_052859.4(RFT1):c.632C>T (p.Thr211Ile) rs148289202 0.00020
NM_080605.4(B3GALT6):c.388G>A (p.Glu130Lys) rs777778007 0.00020
NM_152564.5(VPS13B):c.7752A>G (p.Leu2584=) rs201735478 0.00020
NM_181458.4(PAX3):c.-205C>T rs565554258 0.00020
NM_181523.3(PIK3R1):c.634+6T>C rs199530427 0.00020
NM_000044.6(AR):c.1746C>T (p.Val582=) rs145171897 0.00019
NM_000075.4(CDK4):c.306A>G (p.Thr102=) rs201202764 0.00019
NM_000077.5(CDKN2A):c.51C>A (p.Ala17=) rs764362225 0.00019
NM_000088.4(COL1A1):c.1269C>T (p.Pro423=) rs149301001 0.00019
NM_000088.4(COL1A1):c.2466A>G (p.Gln822=) rs551706871 0.00019
NM_000088.4(COL1A1):c.2932C>T (p.Pro978Ser) rs193922153 0.00019
NM_000088.4(COL1A1):c.299-15C>T rs199523510 0.00019
NM_000089.4(COL1A2):c.1866T>C (p.Gly622=) rs765470622 0.00019
NM_000093.5(COL5A1):c.2844+20G>A rs200916696 0.00019
NM_000093.5(COL5A1):c.4162C>T (p.Pro1388Ser) rs61737942 0.00019
NM_000135.4(FANCA):c.*286C>T rs17233804 0.00019
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg) rs61757383 0.00019
NM_000138.5(FBN1):c.79G>A (p.Ala27Thr) rs25397 0.00019
NM_000165.5(GJA1):c.1127G>A (p.Arg376Gln) rs104893965 0.00019
NM_000168.6(GLI3):c.3117G>A (p.Ala1039=) rs75796620 0.00019
NM_000202.8(IDS):c.104A>G (p.Asp35Gly) rs144081417 0.00019
NM_000219.6(KCNE1):c.-198C>T rs376688699 0.00019
NM_000219.6(KCNE1):c.112A>G (p.Ser38Gly) rs1805127 0.00019
NM_000238.4(KCNH2):c.1923C>T (p.Ser641=) rs142249065 0.00019
NM_000256.3(MYBPC3):c.2980C>T (p.Leu994Phe) rs375776406 0.00019
NM_000264.5(PTCH1):c.3251T>C (p.Val1084Ala) rs1463935039 0.00019
NM_000287.4(PEX6):c.2531T>C (p.Val844Ala) rs187435179 0.00019
NM_000346.4(SOX9):c.739C>A (p.Pro247Thr) rs566929141 0.00019
NM_000393.5(COL5A2):c.2533G>A (p.Val845Ile) rs375124784 0.00019
NM_000501.4(ELN):c.427+9G>A rs370752724 0.00019
NM_000528.4(MAN2B1):c.1110-15C>T rs202085731 0.00019
NM_001005498.4(RHBDF2):c.1004G>A (p.Arg335Gln) rs146134173 0.00019
NM_001005498.4(RHBDF2):c.1638+7G>A rs201989863 0.00019
NM_001018113.3(FANCB):c.507T>C (p.Ser169=) rs149609970 0.00019
NM_001040167.2(LFNG):c.988-12C>T rs200232463 0.00019
NM_001042492.3(NF1):c.1032A>G (p.Leu344=) rs199832006 0.00019
NM_001077418.3(TMEM231):c.140-28C>G rs375353411 0.00019
NM_001101.5(ACTB):c.1044G>A (p.Ser348=) rs13447409 0.00019
NM_001106.4(ACVR2B):c.*3334G>T rs557881549 0.00019
NM_001203.3(BMPR1B):c.74C>G (p.Pro25Arg) rs145700191 0.00019
NM_001282531.3(ADNP):c.2749C>T (p.Pro917Ser) rs142988030 0.00019
NM_001291867.2(NHS):c.1919C>T (p.Thr640Met) rs372391693 0.00019
NM_001291867.2(NHS):c.4051G>A (p.Asp1351Asn) rs148418212 0.00019
NM_001308093.3(GATA4):c.630C>T (p.Asp210=) rs192122549 0.00019
NM_001365276.2(TNXB):c.9661G>A (p.Val3221Met) rs367685759 0.00019
NM_001367561.1(DOCK7):c.38+12G>C rs1052964502 0.00019
NM_001367561.1(DOCK7):c.6045C>T (p.Pro2015=) rs202231787 0.00019
NM_001378615.1(CC2D2A):c.2882T>C (p.Ile961Thr) rs76626268 0.00019
NM_001429.4(EP300):c.2240C>T (p.Pro747Leu) rs193026103 0.00019
NM_001614.5(ACTG1):c.159C>T (p.Tyr53=) rs139751304 0.00019
NM_001614.5(ACTG1):c.803-3T>C rs369438865 0.00019
NM_001999.4(FBN2):c.3322A>C (p.Met1108Leu) rs148127874 0.00019
NM_002485.5(NBN):c.2220T>C (p.Ala740=) rs147494981 0.00019
NM_002485.5(NBN):c.804G>A (p.Thr268=) rs141443872 0.00019
NM_002968.3(SALL1):c.1950C>T (p.Gly650=) rs138705495 0.00019
NM_003070.5(SMARCA2):c.4207G>A (p.Val1403Met) rs143797398 0.00019
NM_003072.5(SMARCA4):c.1076G>A (p.Arg359Gln) rs148530368 0.00019
NM_003119.4(SPG7):c.2181+19G>A rs201539829 0.00019
NM_004168.4(SDHA):c.1569T>C (p.Ala523=) rs150192376 0.00019
NM_004239.4(TRIP11):c.3100C>T (p.Leu1034Phe) rs200739251 0.00019
NM_004260.4(RECQL4):c.1864C>T (p.Leu622=) rs373717016 0.00019
NM_004304.5(ALK):c.3336G>A (p.Pro1112=) rs146074150 0.00019
NM_004304.5(ALK):c.3645+16T>A rs141531355 0.00019
NM_004304.5(ALK):c.487G>T (p.Val163Leu) rs55697431 0.00019
NM_004380.3(CREBBP):c.3750C>T (p.Thr1250=) rs199885110 0.00019
NM_004560.4(ROR2):c.568A>G (p.Thr190Ala) rs34574788 0.00019
NM_005045.4(RELN):c.10016T>C (p.Met3339Thr) rs150638029 0.00019
NM_005045.4(RELN):c.4145+19A>G rs200189547 0.00019
NM_005045.4(RELN):c.5893C>A (p.Pro1965Thr) rs370624724 0.00019
NM_005271.5(GLUD1):c.771T>C (p.Gly257=) rs144831842 0.00019
NM_005343.4(HRAS):c.257A>C (p.Asn86Thr) rs138272051 0.00019
NM_006306.4(SMC1A):c.1173G>A (p.Gln391=) rs147952638 0.00019
NM_006329.4(FBLN5):c.1241G>A (p.Arg414Gln) rs142907552 0.00019
NM_006329.4(FBLN5):c.268G>A (p.Gly90Ser) rs144288844 0.00019
NM_007294.4(BRCA1):c.4484+14A>G rs80358022 0.00019
NM_007373.4(SHOC2):c.841+12G>A rs201258692 0.00019
NM_012082.4(ZFPM2):c.2107A>C (p.Met703Leu) rs121908603 0.00019
NM_012082.4(ZFPM2):c.2490A>T (p.Ile830=) rs368201603 0.00019
NM_012082.4(ZFPM2):c.3078G>A (p.Ala1026=) rs200049316 0.00019
NM_012330.4(KAT6B):c.1268C>G (p.Ser423Cys) rs770325540 0.00019
NM_012330.4(KAT6B):c.625C>T (p.Arg209Cys) rs572706456 0.00019
NM_013275.6(ANKRD11):c.280G>C (p.Ala94Pro) rs190143218 0.00019
NM_013275.6(ANKRD11):c.838G>T (p.Val280Leu) rs199778705 0.00019
NM_015443.4(KANSL1):c.620A>G (p.Asn207Ser) rs144882998 0.00019
NM_015559.3(SETBP1):c.2310G>A (p.Ala770=) rs373845529 0.00019
NM_016938.5(EFEMP2):c.977G>A (p.Arg326His) rs141868759 0.00019
NM_017617.5(NOTCH1):c.2037C>T (p.Ile679=) rs367591933 0.00019
NM_017780.4(CHD7):c.1473C>T (p.Ile491=) rs182294889 0.00019
NM_017946.4(FKBP14):c.349+15G>A rs201366617 0.00019
NM_020964.3(EPG5):c.7009+20C>T rs367613516 0.00019
NM_020975.6(RET):c.1529C>T (p.Ala510Val) rs201745826 0.00019
NM_020975.6(RET):c.2052G>A (p.Pro684=) rs145122337 0.00019
NM_021625.5(TRPV4):c.2289C>T (p.Thr763=) rs202036871 0.00019
NM_022166.4(XYLT1):c.2656G>T (p.Ala886Ser) rs143481827 0.00019
NM_022168.4(IFIH1):c.2682G>A (p.Lys894=) rs374488772 0.00019
NM_022336.4(EDAR):c.1305G>A (p.Ala435=) rs564195922 0.00019
NM_022336.4(EDAR):c.207C>T (p.Tyr69=) rs147059377 0.00019
NM_022356.4(P3H1):c.619-11C>T rs202219307 0.00019
NM_022455.5(NSD1):c.6444T>C (p.Asn2148=) rs146601031 0.00019
NM_024426.6(WT1):c.193G>A (p.Gly65Arg) rs374404615 0.00019
NM_025132.4(WDR19):c.1595T>C (p.Ile532Thr) rs749672769 0.00019
NM_032043.3(BRIP1):c.36G>T (p.Gly12=) rs45566938 0.00019
NM_032444.4(SLX4):c.3583_3585del (p.Ile1195del) rs199897550 0.00019
NM_032634.4(PIGO):c.2487G>T (p.Gly829=) rs763623508 0.00019
NM_145068.4(TRPV3):c.1083C>T (p.Leu361=) rs193231694 0.00019
NM_145068.4(TRPV3):c.489G>A (p.Thr163=) rs771432151 0.00019
NM_147127.5(EVC2):c.3413C>T (p.Thr1138Met) rs182298453 0.00019
NM_152419.3(HGSNAT):c.1272C>T (p.Gly424=) rs147251143 0.00019
NM_152419.3(HGSNAT):c.493+13T>A rs201688937 0.00019
NM_152564.5(VPS13B):c.5890T>C (p.Ser1964Pro) rs148704031 0.00019
NM_172201.2(KCNE2):c.354G>A (p.Gly118=) rs187917779 0.00019
NM_173660.5(DOK7):c.1091G>A (p.Arg364Gln) rs201304841 0.00019
NM_176787.5(PIGN):c.459C>T (p.His153=) rs376615257 0.00019
NM_181458.4(PAX3):c.-359G>T rs45501095 0.00019
NM_198859.4(PRICKLE2):c.1962G>A (p.Leu654=) rs367685080 0.00019
NM_000044.6(AR):c.1644G>T (p.Leu548Phe) rs139524801 0.00018
NM_000052.7(ATP7A):c.3449T>C (p.Ile1150Thr) rs201225704 0.00018
NM_000052.7(ATP7A):c.3883C>T (p.Arg1295Trp) rs372489000 0.00018
NM_000088.4(COL1A1):c.1812T>C (p.Pro604=) rs151328660 0.00018
NM_000090.4(COL3A1):c.2805T>C (p.Pro935=) rs111567071 0.00018
NM_000093.5(COL5A1):c.2799+11G>A rs377322092 0.00018
NM_000169.3(GLA):c.129C>T (p.Gly43=) rs146177035 0.00018
NM_000218.3(KCNQ1):c.19C>T (p.Pro7Ser) rs199473443 0.00018
NM_000218.3(KCNQ1):c.605-11G>A rs200828849 0.00018
NM_000284.4(PDHA1):c.784G>A (p.Val262Ile) rs202166915 0.00018
NM_000314.8(PTEN):c.-152A>G rs369849061 0.00018
NM_000348.4(SRD5A2):c.696T>C (p.His232=) rs9332965 0.00018
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745 0.00018
NM_000393.5(COL5A2):c.1182G>A (p.Ala394=) rs148229627 0.00018
NM_000393.5(COL5A2):c.2263A>C (p.Thr755Pro) rs34395097 0.00018
NM_000489.6(ATRX):c.4215-5G>A rs111833322 0.00018
NM_000528.4(MAN2B1):c.2404A>G (p.Ser802Gly) rs141391488 0.00018
NM_000891.3(KCNJ2):c.*1465A>G rs183514608 0.00018
NM_001005498.4(RHBDF2):c.1531G>A (p.Gly511Ser) rs140196536 0.00018
NM_001042492.3(NF1):c.3672G>A (p.Ala1224=) rs151293900 0.00018
NM_001042492.3(NF1):c.654+28A>G rs372419907 0.00018
NM_001101.5(ACTB):c.124-4C>T rs13447397 0.00018
NM_001148.6(ANK2):c.6633C>T (p.Ala2211=) rs143516811 0.00018
NM_001148.6(ANK2):c.9526G>T (p.Asp3176Tyr) rs138928206 0.00018
NM_001370259.2(MEN1):c.762G>A (p.Leu254=) rs199909967 0.00018
NM_001429.4(EP300):c.1104C>T (p.His368=) rs78045947 0.00018
NM_001429.4(EP300):c.2242-8T>C rs199931034 0.00018
NM_001999.4(FBN2):c.6253C>G (p.Pro2085Ala) rs34845843 0.00018
NM_002470.4(MYH3):c.5797-12C>G rs374799651 0.00018
NM_002470.4(MYH3):c.642+8T>C rs370685666 0.00018
NM_002617.4(PEX10):c.27G>A (p.Pro9=) rs559431523 0.00018
NM_003070.5(SMARCA2):c.4516A>T (p.Ile1506Phe) rs147135956 0.00018
NM_003072.5(SMARCA4):c.2085C>T (p.Ser695=) rs149342641 0.00018
NM_003072.5(SMARCA4):c.4171-1858T>A rs201309716 0.00018
NM_003482.4(KMT2D):c.14413G>A (p.Glu4805Lys) rs563335387 0.00018
NM_004006.3(DMD):c.5485C>G (p.Gln1829Glu) rs754765424 0.00018
NM_005006.7(NDUFS1):c.1393-7T>A rs200409285 0.00018
NM_005045.4(RELN):c.10093G>A (p.Val3365Ile) rs115035120 0.00018
NM_005219.5(DIAPH1):c.200C>T (p.Ala67Val) rs142480526 0.00018
NM_005633.4(SOS1):c.*4C>T rs188849286 0.00018
NM_005633.4(SOS1):c.2964+17A>G rs201906525 0.00018
NM_005633.4(SOS1):c.87+15G>C rs375493196 0.00018
NM_005751.5(AKAP9):c.9763A>G (p.Arg3255Gly) rs201048693 0.00018
NM_005982.4(SIX1):c.679G>T (p.Asp227Tyr) rs144481204 0.00018
NM_006121.4(KRT1):c.1031G>A (p.Ser344Asn) rs769218372 0.00018
NM_006218.4(PIK3CA):c.2985C>T (p.Ala995=) rs201884756 0.00018
NM_006306.4(SMC1A):c.*2856A>T rs148128199 0.00018
NM_006939.4(SOS2):c.3076-17A>T rs200184350 0.00018
NM_007294.4(BRCA1):c.5406+33A>T rs80358092 0.00018
NM_013275.6(ANKRD11):c.4272T>C (p.Ser1424=) rs373066750 0.00018
NM_015713.5(RRM2B):c.*1867C>T rs572149875 0.00018
NM_016169.4(SUFU):c.1308C>T (p.Thr436=) rs142029957 0.00018
NM_018486.3(HDAC8):c.295+13C>T rs138424378 0.00018
NM_021926.4(ALX4):c.226C>A (p.Pro76Thr) rs79200219 0.00018
NM_024009.3(GJB3):c.*434G>A rs567318744 0.00018
NM_024312.5(GNPTAB):c.1750C>A (p.Pro584Thr) rs201829728 0.00018
NM_024757.5(EHMT1):c.2970G>T (p.Gln990His) rs143669310 0.00018
NM_025216.3(WNT10A):c.534A>G (p.Gln178=) rs746227205 0.00018
NM_138959.3(VANGL1):c.*25A>T rs577473121 0.00018
NM_139125.4(MASP1):c.1467G>A (p.Ala489=) rs149695036 0.00018
NM_145068.4(TRPV3):c.*3196T>C rs188531155 0.00018
NM_145068.4(TRPV3):c.2034C>T (p.Gly678=) rs201663049 0.00018
NM_152564.5(VPS13B):c.7998T>C (p.Ser2666=) rs199941415 0.00018
NM_176787.5(PIGN):c.963+11C>T rs186152849 0.00018
NM_198253.3(TERT):c.838G>A (p.Glu280Lys) rs199701877 0.00018
NM_000088.4(COL1A1):c.3815-12G>T rs201066018 0.00017
NM_000089.4(COL1A2):c.1353T>A (p.Gly451=) rs545459178 0.00017
NM_000093.5(COL5A1):c.279G>A (p.Ala93=) rs145090868 0.00017
NM_000093.5(COL5A1):c.803G>T (p.Gly268Val) rs145552797 0.00017
NM_000095.3(COMP):c.468G>T (p.Pro156=) rs202241721 0.00017
NM_000112.4(SLC26A2):c.1410A>G (p.Val470=) rs115777661 0.00017
NM_000135.4(FANCA):c.308C>T (p.Ser103Leu) rs147176389 0.00017
NM_000165.5(GJA1):c.309A>G (p.Glu103=) rs544249730 0.00017
NM_000182.5(HADHA):c.2146+18G>A rs200961004 0.00017
NM_000203.5(IDUA):c.630C>T (p.Arg210=) rs376012666 0.00017
NM_000214.3(JAG1):c.2459-13C>T rs543005578 0.00017
NM_000264.5(PTCH1):c.1728+16T>A rs758961945 0.00017
NM_000264.5(PTCH1):c.2319C>T (p.Asp773=) rs141134542 0.00017
NM_000348.4(SRD5A2):c.441C>T (p.Ser147=) rs201018300 0.00017
NM_000501.4(ELN):c.1467C>T (p.Val489=) rs200512332 0.00017
NM_000719.7(CACNA1C):c.2712C>T (p.Asn904=) rs144992959 0.00017
NM_000719.7(CACNA1C):c.5106G>A (p.Leu1702=) rs541967618 0.00017
NM_000891.3(KCNJ2):c.*108G>A rs188588568 0.00017
NM_001001433.3(STX16):c.644A>T (p.His215Leu) rs185111037 0.00017
NM_001018115.3(FANCD2):c.2723C>T (p.Thr908Ile) rs188375397 0.00017
NM_001032386.2(SUOX):c.51-14G>A rs141432255 0.00017
NM_001040167.2(LFNG):c.822-9C>G rs199661195 0.00017
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val) rs201712827 0.00017
NM_001106.4(ACVR2B):c.*420A>G rs556691662 0.00017
NM_001148.6(ANK2):c.7183A>C (p.Thr2395Pro) rs201693280 0.00017
NM_001354604.2(MITF):c.*2673T>G rs75204045 0.00017
NM_001614.5(ACTG1):c.870C>T (p.Arg290=) rs565983582 0.00017
NM_002470.4(MYH3):c.3993G>A (p.Ala1331=) rs137974114 0.00017
NM_002693.3(POLG):c.2028G>A (p.Ala676=) rs373550219 0.00017
NM_003072.5(SMARCA4):c.1099C>T (p.Leu367=) rs372379166 0.00017
NM_003482.4(KMT2D):c.13433G>A (p.Arg4478Gln) rs200156008 0.00017
NM_003482.4(KMT2D):c.7671G>A (p.Pro2557=) rs545623417 0.00017
NM_003482.4(KMT2D):c.8079G>A (p.Gln2693=) rs531286372 0.00017
NM_003611.3(OFD1):c.1730A>G (p.Asn577Ser) rs200465596 0.00017
NM_003611.3(OFD1):c.2488+13A>G rs369270604 0.00017
NM_004064.5(CDKN1B):c.373T>A (p.Ser125Thr) rs765681672 0.00017
NM_004208.4(AIFM1):c.724A>G (p.Met242Val) rs138123187 0.00017
NM_004370.6(COL12A1):c.7354+10T>A rs199945254 0.00017
NM_005045.4(RELN):c.6647G>A (p.Arg2216Gln) rs200010849 0.00017
NM_005529.7(HSPG2):c.3708G>A (p.Ala1236=) rs202214491 0.00017
NM_005629.4(SLC6A8):c.1016+10G>A rs371905179 0.00017
NM_005633.4(SOS1):c.214-10A>G rs371447614 0.00017
NM_005633.4(SOS1):c.3286T>A (p.Ser1096Thr) rs376722127 0.00017
NM_005751.5(AKAP9):c.4148+18G>C rs375733678 0.00017
NM_005921.2(MAP3K1):c.894A>G (p.Pro298=) rs372575885 0.00017
NM_006015.6(ARID1A):c.759C>G (p.Pro253=) rs747694475 0.00017
NM_006306.4(SMC1A):c.2862+20G>A rs374473076 0.00017
NM_013275.6(ANKRD11):c.3423C>T (p.Ser1141=) rs142005632 0.00017
NM_015335.5(MED13L):c.5664A>G (p.Gln1888=) rs143739741 0.00017
NM_017617.5(NOTCH1):c.1556-9C>T rs150834418 0.00017
NM_017617.5(NOTCH1):c.4095C>T (p.Ser1365=) rs202023240 0.00017
NM_017617.5(NOTCH1):c.839A>G (p.Asn280Ser) rs367825691 0.00017
NM_017780.4(CHD7):c.6103+6T>C rs371509438 0.00017
NM_017780.4(CHD7):c.6247C>T (p.Pro2083Ser) rs370972259 0.00017
NM_022166.4(XYLT1):c.951C>T (p.Ser317=) rs145318002 0.00017
NM_024757.5(EHMT1):c.1947G>A (p.Ser649=) rs139206060 0.00017
NM_025114.4(CEP290):c.384T>C (p.Asp128=) rs76267039 0.00017
NM_025136.4(OPA3):c.*5923G>A rs149788703 0.00017
NM_025136.4(OPA3):c.*6626G>A rs139757997 0.00017
NM_032043.3(BRIP1):c.1890A>G (p.Thr630=) rs145796331 0.00017
NM_032043.3(BRIP1):c.587A>G (p.Asn196Ser) rs550707862 0.00017
NM_033337.3(CAV3):c.234G>A (p.Thr78=) rs148846096 0.00017
NM_145068.3(TRPV3):c.-234C>T rs568432604 0.00017
NM_145068.4(TRPV3):c.1044C>T (p.Ala348=) rs139733808 0.00017
NM_145068.4(TRPV3):c.1258C>T (p.Leu420=) rs199598561 0.00017
NM_147127.5(EVC2):c.1341C>T (p.Tyr447=) rs186349183 0.00017
NM_152564.5(VPS13B):c.1528C>T (p.Arg510Cys) rs139141291 0.00017
NM_152594.3(SPRED1):c.124G>A (p.Val42Ile) rs147204964 0.00017
NM_170665.4(ATP2A2):c.1287+3A>G rs376753206 0.00017
NC_000008.11:g.11703355C>A rs769262495 0.00016
NM_000075.4(CDK4):c.684-4A>T rs370609910 0.00016
NM_000077.5(CDKN2A):c.151-14G>A rs767030551 0.00016
NM_000088.4(COL1A1):c.*202A>G rs564917505 0.00016
NM_000088.4(COL1A1):c.1005T>A (p.Gly335=) rs375914028 0.00016
NM_000088.4(COL1A1):c.1615-14C>T rs190098788 0.00016
NM_000089.4(COL1A2):c.*195C>T rs190115417 0.00016
NM_000089.4(COL1A2):c.2168A>G (p.Asn723Ser) rs189374343 0.00016
NM_000093.5(COL5A1):c.3130G>A (p.Ala1044Thr) rs370143255 0.00016
NM_000093.5(COL5A1):c.4383C>T (p.Pro1461=) rs368551709 0.00016
NM_000093.5(COL5A1):c.5370+14G>A rs201082330 0.00016
NM_000135.4(FANCA):c.2152-20T>A rs200403206 0.00016
NM_000135.4(FANCA):c.3348+7G>T rs185527578 0.00016
NM_000138.5(FBN1):c.*1228T>C rs372333234 0.00016
NM_000168.6(GLI3):c.241G>A (p.Glu81Lys) rs376725882 0.00016
NM_000181.4(GUSB):c.1329C>T (p.Val443=) rs139776224 0.00016
NM_000202.8(IDS):c.1490A>G (p.Tyr497Cys) rs142248439 0.00016
NM_000202.8(IDS):c.41G>A (p.Gly14Asp) rs373389352 0.00016
NM_000203.5(IDUA):c.1403-14G>T rs368368416 0.00016
NM_000214.3(JAG1):c.2596A>G (p.Met866Val) rs746108409 0.00016
NM_000218.3(KCNQ1):c.1926C>T (p.Cys642=) rs12720454 0.00016
NM_000233.4(LHCGR):c.672G>A (p.Pro224=) rs267599401 0.00016
NM_000256.3(MYBPC3):c.1566G>A (p.Ala522=) rs376041792 0.00016
NM_000264.5(PTCH1):c.2560+7C>T rs75576651 0.00016
NM_000264.5(PTCH1):c.567T>C (p.His189=) rs150759973 0.00016
NM_000287.4(PEX6):c.2183C>T (p.Pro728Leu) rs142899308 0.00016
NM_000314.8(PTEN):c.*1695C>A rs141857855 0.00016
NM_000314.8(PTEN):c.234C>T (p.Thr78=) rs35917308 0.00016
NM_000316.3(PTH1R):c.357G>A (p.Pro119=) rs143692596 0.00016
NM_000368.5(TSC1):c.1700C>T (p.Ala567Val) rs397514880 0.00016
NM_000368.5(TSC1):c.1936A>G (p.Met646Val) rs145741748 0.00016
NM_000368.5(TSC1):c.3435G>A (p.Pro1145=) rs140352085 0.00016
NM_000466.3(PEX1):c.3439-16A>G rs563019269 0.00016
NM_000501.4(ELN):c.1338C>T (p.Ala446=) rs146576615 0.00016
NM_000501.4(ELN):c.249C>T (p.Pro83=) rs565001805 0.00016
NM_000503.6(EYA1):c.1185C>T (p.Asn395=) rs372488542 0.00016
NM_000528.4(MAN2B1):c.2993G>A (p.Arg998His) rs202174515 0.00016
NM_000557.5(GDF5):c.*259G>C rs150833046 0.00016
NM_001001433.3(STX16):c.*1652G>A rs186800651 0.00016
NM_001005498.4(RHBDF2):c.314G>A (p.Gly105Glu) rs142642633 0.00016
NM_001024630.4(RUNX2):c.*2274C>T rs186219428 0.00016
NM_001044385.3(TMEM237):c.869+10A>G rs376868416 0.00016
NM_001083962.2(TCF4):c.1487-5G>A rs749176054 0.00016
NM_001083962.2(TCF4):c.990+12T>C rs144346949 0.00016
NM_001106.4(ACVR2B):c.1452G>A (p.Ser484=) rs56280856 0.00016
NM_001113378.2(FANCI):c.3051C>T (p.Asn1017=) rs768378979 0.00016
NM_001114753.3(ENG):c.595C>T (p.Arg199Cys) rs752195587 0.00016
NM_001122681.2(SH3BP2):c.472C>T (p.Arg158Trp) rs200463050 0.00016
NM_001127671.2(LIFR):c.774T>C (p.Asp258=) rs761633332 0.00016
NM_001148.6(ANK2):c.2080-18G>T rs199937888 0.00016
NM_001148.6(ANK2):c.270G>T (p.Val90=) rs376457094 0.00016
NM_001148.6(ANK2):c.9682G>A (p.Val3228Met) rs141013157 0.00016
NM_001282531.3(ADNP):c.1212G>C (p.Ser404=) rs139951165 0.00016
NM_001291867.2(NHS):c.3310C>T (p.His1104Tyr) rs201263814 0.00016
NM_001330078.2(NRXN1):c.2347+18C>A rs150460414 0.00016
NM_001370259.2(MEN1):c.1080C>T (p.Ile360=) rs147331514 0.00016
NM_001378452.1(ITPR1):c.57G>A (p.Ala19=) rs200534989 0.00016
NM_001379286.1(ZNF423):c.1827C>T (p.Ala609=) rs376118736 0.00016
NM_001399.5(EDA):c.833C>G (p.Thr278Ser) rs375753764 0.00016
NM_001429.4(EP300):c.6917A>G (p.Gln2306Arg) rs140300789 0.00016
NM_001453.3(FOXC1):c.216G>A (p.Gln72=) rs200040370 0.00016
NM_001614.5(ACTG1):c.978G>A (p.Lys326=) rs139339869 0.00016
NM_001852.4(COL9A2):c.304-13G>A rs200032742 0.00016
NM_001999.4(FBN2):c.3862G>A (p.Glu1288Lys) rs371512923 0.00016
NM_002010.3(FGF9):c.*1741C>T rs376775173 0.00016
NM_002334.4(LRP4):c.*2252G>A rs188545674 0.00016
NM_002386.4(MC1R):c.917G>A (p.Arg306His) rs368507952 0.00016
NM_002880.4(RAF1):c.119G>A (p.Arg40His) rs192632236 0.00016
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln) rs145611571 0.00016
NM_003036.4(SKI):c.1095+18G>A rs748998967 0.00016
NM_003036.4(SKI):c.1440G>A (p.Ser480=) rs185754530 0.00016
NM_003052.5(SLC34A1):c.1348G>A (p.Gly450Ser) rs34044544 0.00016
NM_003052.5(SLC34A1):c.25G>T (p.Gly9Trp) rs148669433 0.00016
NM_003072.5(SMARCA4):c.441C>T (p.Ser147=) rs201372858 0.00016
NM_003119.4(SPG7):c.862-16T>G rs199954282 0.00016
NM_003244.4(TGIF1):c.573G>T (p.Ser191=) rs142737563 0.00016
NM_003334.4(UBA1):c.965A>G (p.Lys322Arg) rs146180431 0.00016
NM_003384.3(VRK1):c.710-13C>T rs374386994 0.00016
NM_003482.4(KMT2D):c.1010C>T (p.Ser337Leu) rs200245957 0.00016
NM_003482.4(KMT2D):c.3606C>T (p.Ser1202=) rs369602516 0.00016
NM_003482.4(KMT2D):c.9343C>T (p.Leu3115Phe) rs587778471 0.00016
NM_003995.4(NPR2):c.2519+15C>T rs370934186 0.00016
NM_003995.4(NPR2):c.2519+9T>C rs185385838 0.00016
NM_004260.4(RECQL4):c.2031C>T (p.Ser677=) rs749542193 0.00016
NM_004260.4(RECQL4):c.2131G>A (p.Glu711Lys) rs371818842 0.00016
NM_004260.4(RECQL4):c.2467G>A (p.Glu823Lys) rs368611522 0.00016
NM_004304.5(ALK):c.2149G>A (p.Glu717Lys) rs147858673 0.00016
NM_004304.5(ALK):c.2478C>T (p.Tyr826=) rs142126984 0.00016
NM_004370.6(COL12A1):c.695C>T (p.Thr232Met) rs200443479 0.00016
NM_004380.3(CREBBP):c.6138G>A (p.Ala2046=) rs371656213 0.00016
NM_005045.4(RELN):c.2015C>T (p.Pro672Leu) rs201044262 0.00016
NM_005045.4(RELN):c.4354G>A (p.Asp1452Asn) rs114446781 0.00016
NM_005045.4(RELN):c.5088T>C (p.Leu1696=) rs114551393 0.00016
NM_005045.4(RELN):c.5589G>T (p.Gln1863His) rs774354428 0.00016
NM_005045.4(RELN):c.8844-20T>C rs142002220 0.00016
NM_005629.4(SLC6A8):c.645-6C>T rs377181706 0.00016
NM_005633.4(SOS1):c.109A>G (p.Thr37Ala) rs150565592 0.00016
NM_005633.4(SOS1):c.3709C>G (p.Pro1237Ala) rs371408734 0.00016
NM_005751.5(AKAP9):c.3193A>G (p.Ser1065Gly) rs185594755 0.00016
NM_006218.4(PIK3CA):c.318C>A (p.Gly106=) rs201193059 0.00016
NM_006796.3(AFG3L2):c.498C>T (p.Ser166=) rs141538541 0.00016
NM_007294.4(BRCA1):c.3296C>T (p.Pro1099Leu) rs80357201 0.00016
NM_012330.4(KAT6B):c.3028C>T (p.Arg1010Trp) rs142309185 0.00016
NM_012330.4(KAT6B):c.3685A>G (p.Ser1229Gly) rs182978198 0.00016
NM_012330.4(KAT6B):c.6048G>A (p.Thr2016=) rs116978399 0.00016
NM_013275.6(ANKRD11):c.3780G>A (p.Ser1260=) rs139288405 0.00016
NM_013275.6(ANKRD11):c.5625C>T (p.Val1875=) rs201082380 0.00016
NM_014244.5(ADAMTS2):c.798C>T (p.Tyr266=) rs139249329 0.00016
NM_014846.4(WASHC5):c.2199+4C>A rs145721086 0.00016
NM_015335.5(MED13L):c.3517G>A (p.Gly1173Ser) rs201987892 0.00016
NM_015338.6(ASXL1):c.2593G>A (p.Glu865Lys) rs147895689 0.00016
NM_015443.4(KANSL1):c.949A>G (p.Ile317Val) rs139843442 0.00016
NM_017617.5(NOTCH1):c.1689C>T (p.Cys563=) rs760548976 0.00016
NM_017617.5(NOTCH1):c.2191C>T (p.Arg731Trp) rs199666126 0.00016
NM_017617.5(NOTCH1):c.3511-11C>T rs201280571 0.00016
NM_017617.5(NOTCH1):c.5385-18C>T rs370602147 0.00016
NM_017780.4(CHD7):c.4851T>C (p.Gly1617=) rs181927766 0.00016
NM_018475.5(TMEM165):c.351A>G (p.Ala117=) rs747450377 0.00016
NM_018486.3(HDAC8):c.164+19A>T rs188536186 0.00016
NM_021625.5(TRPV4):c.1658+15C>T rs200083069 0.00016
NM_022168.4(IFIH1):c.2454+9A>G rs193149001 0.00016
NM_023110.3(FGFR1):c.1269G>A (p.Leu423=) rs144131616 0.00016
NM_023110.3(FGFR1):c.304G>A (p.Val102Ile) rs55642501 0.00016
NM_025114.4(CEP290):c.3955T>C (p.Leu1319=) rs182851622 0.00016
NM_030662.4(MAP2K2):c.420C>T (p.Asp140=) rs369925884 0.00016
NM_031296.3(RAB33B):c.258A>G (p.Leu86=) rs189262252 0.00016
NM_031483.7(ITCH):c.679+20A>G rs201851174 0.00016
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624 0.00016
NM_032444.4(SLX4):c.2628C>T (p.Asp876=) rs201279467 0.00016
NM_052989.3(IFT122):c.1009-14C>T rs202155515 0.00016
NM_080632.3(UPF3B):c.1201C>T (p.Arg401Trp) rs375418085 0.00016
NM_080680.3(COL11A2):c.2254G>A (p.Val752Met) rs201076557 0.00016
NM_133433.4(NIPBL):c.6624C>T (p.Phe2208=) rs371380435 0.00016
NM_145068.4(TRPV3):c.1045G>A (p.Ala349Thr) rs146393183 0.00016
NM_152564.5(VPS13B):c.11787C>T (p.Asn3929=) rs147710096 0.00016
NM_152564.5(VPS13B):c.358A>G (p.Ile120Val) rs201147123 0.00016
NM_152564.5(VPS13B):c.4551C>G (p.Arg1517=) rs150376603 0.00016
NM_153603.4(COG7):c.811-14C>G rs545654100 0.00016
NM_173660.5(DOK7):c.765C>A (p.Gly255=) rs138215484 0.00016
NM_181458.4(PAX3):c.580G>A (p.Glu194Lys) rs148454691 0.00016
NM_182760.4(SUMF1):c.606G>A (p.Pro202=) rs141957829 0.00016
NM_198525.3(KIF7):c.3964T>C (p.Ser1322Pro) rs200891085 0.00016
NM_000046.5(ARSB):c.750A>G (p.Glu250=) rs200985327 0.00015
NM_000052.7(ATP7A):c.1737A>G (p.Val579=) rs189353691 0.00015
NM_000057.4(BLM):c.274A>G (p.Asn92Asp) rs200690226 0.00015
NM_000093.5(COL5A1):c.680T>C (p.Val227Ala) rs376144196 0.00015
NM_000138.5(FBN1):c.1371C>G (p.Arg457=) rs25436 0.00015
NM_000193.4(SHH):c.562+16C>A rs552346452 0.00015
NM_000202.8(IDS):c.445T>G (p.Ser149Ala) rs146846763 0.00015
NM_000214.3(JAG1):c.1806C>T (p.His602=) rs764290237 0.00015
NM_000264.5(PTCH1):c.2485G>A (p.Val829Met) rs201125580 0.00015
NM_000314.8(PTEN):c.802-12T>C rs587781129 0.00015
NM_000489.6(ATRX):c.1648A>G (p.Ser550Gly) rs201284965 0.00015
NM_000501.4(ELN):c.232+3G>A rs377172364 0.00015
NM_001018113.3(FANCB):c.2411A>G (p.Asp804Gly) rs148257882 0.00015
NM_001018115.3(FANCD2):c.4206A>G (p.Gln1402=) rs745841768 0.00015
NM_001024630.4(RUNX2):c.*47C>T rs144321470 0.00015
NM_001032283.3(TMPO):c.565+2376C>T rs202035749 0.00015
NM_001042492.3(NF1):c.107C>G (p.Thr36Ser) rs199966218 0.00015
NM_001042492.3(NF1):c.6929C>T (p.Pro2310Leu) rs148736217 0.00015
NM_001080432.3(FTO):c.*116C>T rs533303860 0.00015
NM_001083962.2(TCF4):c.208-8A>G rs184943897 0.00015
NM_001114753.3(ENG):c.322C>T (p.His108Tyr) rs756897517 0.00015
NM_001127649.3(PEX26):c.882A>G (p.Ala294=) rs751507771 0.00015
NM_001127671.2(LIFR):c.143-39C>G rs62355820 0.00015
NM_001148.6(ANK2):c.2592T>C (p.Pro864=) rs138641014 0.00015
NM_001174147.2(LMX1B):c.*2966G>A rs191951894 0.00015
NM_001203.3(BMPR1B):c.92G>A (p.Arg31His) rs200035802 0.00015
NM_001291415.2(KDM6A):c.2421G>A (p.Thr807=) rs374758648 0.00015
NM_001291415.2(KDM6A):c.2900T>C (p.Leu967Ser) rs199761905 0.00015
NM_001329943.3(KIAA0586):c.1240G>A (p.Glu414Lys) rs147844088 0.00015
NM_001368809.2(AMPD2):c.912C>T (p.Asp304=) rs141396033 0.00015
NM_001370259.2(MEN1):c.1508G>A (p.Gly503Asp) rs375804228 0.00015
NM_001429.4(EP300):c.5565A>G (p.Pro1855=) rs150532830 0.00015
NM_001999.4(FBN2):c.5602A>T (p.Ile1868Phe) rs150931558 0.00015
NM_002181.4(IHH):c.1130C>T (p.Pro377Leu) rs532767918 0.00015
NM_002386.4(MC1R):c.-13C>T rs375789795 0.00015
NM_002470.4(MYH3):c.4810G>A (p.Ala1604Thr) rs201488879 0.00015
NM_003070.5(SMARCA2):c.677A>C (p.Gln226Pro) rs147609454 0.00015
NM_003072.5(SMARCA4):c.4692C>T (p.Ile1564=) rs746415437 0.00015
NM_003611.3(OFD1):c.2235C>T (p.Ser745=) rs372503752 0.00015
NM_004239.4(TRIP11):c.576G>C (p.Arg192Ser) rs577597668 0.00015
NM_004370.6(COL12A1):c.2158G>A (p.Glu720Lys) rs768052470 0.00015
NM_004370.6(COL12A1):c.66G>A (p.Glu22=) rs369544130 0.00015
NM_004370.6(COL12A1):c.9064C>T (p.Pro3022Ser) rs200901687 0.00015
NM_004380.3(CREBBP):c.1743T>G (p.Ala581=) rs117115765 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_004456.5(EZH2):c.1506-13T>C rs778651288 0.00015
NM_005027.4(PIK3R2):c.1011-19A>G rs373122934 0.00015
NM_005271.5(GLUD1):c.1403-11T>C rs886047374 0.00015
NM_005465.7(AKT3):c.1398G>A (p.Pro466=) rs150573714 0.00015
NM_006306.4(SMC1A):c.1564C>T (p.Leu522=) rs782367851 0.00015
NM_006912.6(RIT1):c.237+10C>A rs367785615 0.00015
NM_006939.4(SOS2):c.2057+19T>A rs544924513 0.00015
NM_012330.4(KAT6B):c.307C>T (p.Arg103Cys) rs374549966 0.00015
NM_013275.6(ANKRD11):c.6698G>A (p.Gly2233Glu) rs570265865 0.00015
NM_014795.4(ZEB2):c.10C>G (p.Pro4Ala) rs146394306 0.00015
NM_015443.4(KANSL1):c.2110T>C (p.Ser704Pro) rs202231419 0.00015
NM_017617.5(NOTCH1):c.2353+14G>A rs140288481 0.00015
NM_017617.5(NOTCH1):c.591C>T (p.Asn197=) rs370684825 0.00015
NM_018055.5(NODAL):c.607G>A (p.Glu203Lys) rs10999334 0.00015
NM_018486.3(HDAC8):c.1111+9C>T rs368139150 0.00015
NM_018486.3(HDAC8):c.491G>A (p.Arg164Gln) rs148688742 0.00015
NM_019892.6(INPP5E):c.1470C>T (p.Asp490=) rs375301475 0.00015
NM_020964.3(EPG5):c.5308G>A (p.Asp1770Asn) rs554975133 0.00015
NM_020964.3(EPG5):c.7368C>T (p.Leu2456=) rs148229334 0.00015
NM_021005.4(NR2F2):c.970+18C>A rs373488143 0.00015
NM_021830.5(TWNK):c.1101C>T (p.Ile367=) rs200798080 0.00015
NM_022168.4(IFIH1):c.2239G>A (p.Val747Ile) rs200389061 0.00015
NM_022356.4(P3H1):c.1721-4C>T rs200901466 0.00015
NM_022458.4(LMBR1):c.1399C>G (p.Leu467Val) rs140722848 0.00015
NM_023110.3(FGFR1):c.*963C>T rs567128409 0.00015
NM_023110.3(FGFR1):c.1082-13C>T rs185831613 0.00015
NM_025136.4(OPA3):c.*3442A>G rs138449967 0.00015
NM_032444.4(SLX4):c.3315C>T (p.Ser1105=) rs183029626 0.00015
NM_145861.4(EDARADD):c.*1722C>T rs559506851 0.00015
NM_152594.3(SPRED1):c.376+3A>T rs775985211 0.00015
NM_153603.4(COG7):c.835G>A (p.Val279Ile) rs367796897 0.00015
NM_181523.3(PIK3R1):c.1170T>C (p.Tyr390=) rs17847317 0.00015
NM_000020.3(ACVRL1):c.652C>T (p.Arg218Trp) rs199874575 0.00014
NM_000036.3(AMPD1):c.681T>C (p.Asp227=) rs201988963 0.00014
NM_000044.6(AR):c.475G>A (p.Ala159Thr) rs370215797 0.00014
NM_000052.7(ATP7A):c.312A>G (p.Gln104=) rs146414063 0.00014
NM_000052.7(ATP7A):c.3153C>T (p.His1051=) rs142998552 0.00014
NM_000075.4(CDK4):c.771G>A (p.Val257=) rs377612647 0.00014
NM_000089.4(COL1A2):c.226-6C>A rs199616511 0.00014
NM_000089.4(COL1A2):c.3144T>C (p.Gly1048=) rs369434464 0.00014
NM_000090.4(COL3A1):c.3413C>T (p.Pro1138Leu) rs201880122 0.00014
NM_000090.4(COL3A1):c.4021G>A (p.Gly1341Ser) rs140646380 0.00014
NM_000093.5(COL5A1):c.3114+12G>C rs528913410 0.00014
NM_000093.5(COL5A1):c.3291C>T (p.Ala1097=) rs371821655 0.00014
NM_000093.5(COL5A1):c.3906+19C>T rs571788196 0.00014
NM_000093.5(COL5A1):c.4308G>A (p.Pro1436=) rs200073020 0.00014
NM_000108.5(DLD):c.1395T>C (p.Asn465=) rs76313180 0.00014
NM_000135.4(FANCA):c.200C>A (p.Pro67Gln) rs200698961 0.00014
NM_000135.4(FANCA):c.2949T>G (p.Ile983Met) rs188695241 0.00014
NM_000162.5(GCK):c.213C>T (p.Val71=) rs143128547 0.00014
NM_000168.6(GLI3):c.3509C>G (p.Ala1170Gly) rs143942705 0.00014
NM_000218.3(KCNQ1):c.1110G>A (p.Ala370=) rs1805118 0.00014
NM_000233.4(LHCGR):c.707C>T (p.Ala236Val) rs140148170 0.00014
NM_000256.3(MYBPC3):c.2149-5C>T rs36211722 0.00014
NM_000264.5(PTCH1):c.2678G>A (p.Arg893His) rs138154222 0.00014
NM_000264.5(PTCH1):c.3839C>T (p.Ser1280Leu) rs201595274 0.00014
NM_000264.5(PTCH1):c.4252G>A (p.Val1418Ile) rs369882883 0.00014
NM_000284.4(PDHA1):c.1008+7T>G rs768994523 0.00014
NM_000368.5(TSC1):c.532G>A (p.Val178Ile) rs118203395 0.00014
NM_000393.5(COL5A2):c.2307T>A (p.Ile769=) rs763068575 0.00014
NM_000414.4(HSD17B4):c.1767+8T>C rs190659146 0.00014
NM_000475.5(NR0B1):c.344T>C (p.Val115Ala) rs200436490 0.00014
NM_000501.4(ELN):c.1317C>T (p.Pro439=) rs201861098 0.00014
NM_000503.6(EYA1):c.*104C>T rs545764396 0.00014
NM_000503.6(EYA1):c.887G>A (p.Arg296His) rs181191349 0.00014
NM_000719.7(CACNA1C):c.1002C>T (p.Pro334=) rs112002520 0.00014
NM_000719.7(CACNA1C):c.3209+12T>C rs372982213 0.00014
NM_001001433.3(STX16):c.706C>T (p.Arg236Trp) rs188308261 0.00014
NM_001015880.2(PAPSS2):c.754-6T>C rs202210032 0.00014
NM_001018113.3(FANCB):c.869T>C (p.Met290Thr) rs754552650 0.00014
NM_001018113.3(FANCB):c.960T>G (p.Ala320=) rs139045247 0.00014
NM_001024630.4(RUNX2):c.*1133A>T rs188598788 0.00014
NM_001042492.3(NF1):c.7368A>G (p.Lys2456=) rs201287021 0.00014
NM_001106.4(ACVR2B):c.*3570A>G rs528466104 0.00014
NM_001122681.2(SH3BP2):c.*6136A>C rs566113870 0.00014
NM_001122681.2(SH3BP2):c.1123G>A (p.Gly375Arg) rs375094936 0.00014
NM_001122681.2(SH3BP2):c.1241+15C>T rs367551850 0.00014
NM_001122681.2(SH3BP2):c.1655G>A (p.Arg552Gln) rs374608155 0.00014
NM_001122955.4(BSCL2):c.133G>A (p.Gly45Ser) rs3763853 0.00014
NM_001134831.2(AHI1):c.189+12T>C rs199617785 0.00014
NM_001148.6(ANK2):c.2249A>G (p.Gln750Arg) rs371787039 0.00014
NM_001148.6(ANK2):c.2850C>A (p.Gly950=) rs189563238 0.00014
NM_001148.6(ANK2):c.4372-7C>T rs370720661 0.00014
NM_001148.6(ANK2):c.9967A>G (p.Ser3323Gly) rs148357205 0.00014
NM_001174147.2(LMX1B):c.*2160C>T rs145937520 0.00014
NM_001203.3(BMPR1B):c.901A>G (p.Met301Val) rs199613098 0.00014
NM_001278116.2(L1CAM):c.649A>C (p.Arg217=) rs201204893 0.00014
NM_001282531.3(ADNP):c.2782G>C (p.Asp928His) rs76458950 0.00014
NM_001308093.3(GATA4):c.90G>A (p.Ala30=) rs768982638 0.00014
NM_001347721.2(DYRK1A):c.1998A>C (p.Gln666His) rs756785454 0.00014
NM_001365951.3(KIF1B):c.*3988G>A rs571451087 0.00014
NM_001370259.2(MEN1):c.1351-4C>T rs764408631 0.00014
NM_001370259.2(MEN1):c.1506G>C (p.Lys502Asn) rs774296730 0.00014
NM_001378615.1(CC2D2A):c.1830G>A (p.Pro610=) rs185072004 0.00014
NM_001399.5(EDA):c.435A>G (p.Pro145=) rs146844463 0.00014
NM_001429.4(EP300):c.2916T>C (p.Pro972=) rs142769483 0.00014
NM_001429.4(EP300):c.3537C>A (p.Gly1179=) rs148939960 0.00014
NM_001844.5(COL2A1):c.4344T>C (p.Thr1448=) rs200214562 0.00014
NM_001999.4(FBN2):c.6064G>A (p.Ala2022Thr) rs545524318 0.00014
NM_002437.5(MPV17):c.444G>A (p.Leu148=) rs776964645 0.00014
NM_002465.4(MYBPC1):c.*317C>A rs192569541 0.00014
NM_002465.4(MYBPC1):c.1237A>G (p.Arg413Gly) rs201921739 0.00014
NM_002470.4(MYH3):c.*31T>G rs201532275 0.00014
NM_002470.4(MYH3):c.5231A>G (p.Asp1744Gly) rs200191762 0.00014
NM_002485.5(NBN):c.1809C>A (p.Phe603Leu) rs192236678 0.00014
NM_002693.3(POLG):c.2157+11C>T rs56411159 0.00014
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys) rs2307440 0.00014
NM_002880.4(RAF1):c.*556G>A rs187286358 0.00014
NM_002880.4(RAF1):c.680+6T>C rs371846795 0.00014
NM_003072.5(SMARCA4):c.2739G>A (p.Pro913=) rs183695281 0.00014
NM_003413.4(ZIC3):c.1342G>A (p.Val448Ile) rs375086818 0.00014
NM_003482.4(KMT2D):c.13010C>G (p.Pro4337Arg) rs369802222 0.00014
NM_003482.4(KMT2D):c.14644-11C>T rs570653051 0.00014
NM_003482.4(KMT2D):c.14829G>A (p.Glu4943=) rs374958373 0.00014
NM_003611.3(OFD1):c.2959C>A (p.Leu987Ile) rs148543618 0.00014
NM_003705.5(SLC25A12):c.1171+17C>G rs370591049 0.00014
NM_004064.5(CDKN1B):c.482C>G (p.Ser161Cys) rs373917399 0.00014
NM_004260.4(RECQL4):c.1899C>T (p.Gly633=) rs557065974 0.00014
NM_004304.5(ALK):c.2307C>T (p.Asp769=) rs553770508 0.00014
NM_004304.5(ALK):c.3359+17C>T rs200832204 0.00014
NM_004380.3(CREBBP):c.2225G>C (p.Arg742Pro) rs748747684 0.00014
NM_004380.3(CREBBP):c.6090G>A (p.Gln2030=) rs374969185 0.00014
NM_004380.3(CREBBP):c.6351C>T (p.Pro2117=) rs142846349 0.00014
NM_004560.4(ROR2):c.1317G>A (p.Pro439=) rs150661792 0.00014
NM_004629.2(FANCG):c.881G>A (p.Gly294Glu) rs17880082 0.00014
NM_005045.4(RELN):c.4893C>G (p.Asp1631Glu) rs201296719 0.00014
NM_005144.5(HR):c.3470C>G (p.Pro1157Arg) rs201030061 0.00014
NM_005257.6(GATA6):c.551G>A (p.Ser184Asn) rs387906816 0.00014
NM_005629.4(SLC6A8):c.1016+12C>T rs182984520 0.00014
NM_005751.5(AKAP9):c.11714T>C (p.Met3905Thr) rs77447750 0.00014
NM_005751.5(AKAP9):c.717G>A (p.Gln239=) rs370346906 0.00014
NM_005921.2(MAP3K1):c.2757A>G (p.Lys919=) rs200375119 0.00014
NM_005982.4(SIX1):c.*1044G>T rs3742637 0.00014
NM_005996.4(TBX3):c.1768G>A (p.Ala590Thr) rs751628989 0.00014
NM_006306.4(SMC1A):c.1337+9C>T rs376455825 0.00014
NM_006329.4(FBLN5):c.1191G>A (p.Thr397=) rs148660796 0.00014
NM_006939.4(SOS2):c.2668-13T>C rs368749459 0.00014
NM_012082.4(ZFPM2):c.1015G>A (p.Val339Ile) rs201845067 0.00014
NM_012330.4(KAT6B):c.730+7T>A rs571475726 0.00014
NM_012414.4(RAB3GAP2):c.2304G>A (p.Leu768=) rs140146408 0.00014
NM_013275.6(ANKRD11):c.4391A>G (p.Lys1464Arg) rs147285830 0.00014
NM_013275.6(ANKRD11):c.6375C>T (p.Ala2125=) rs75629150 0.00014
NM_014704.4(CEP104):c.2564G>A (p.Gly855Glu) rs148840465 0.00014
NM_014795.4(ZEB2):c.1848T>G (p.Pro616=) rs144835963 0.00014
NM_014795.4(ZEB2):c.2457A>G (p.Ser819=) rs144184948 0.00014
NM_014795.4(ZEB2):c.2973C>T (p.Ile991=) rs572507342 0.00014
NM_014795.4(ZEB2):c.3640A>G (p.Met1214Val) rs199951665 0.00014
NM_015713.5(RRM2B):c.790-8C>A rs376542259 0.00014
NM_017617.5(NOTCH1):c.156C>T (p.Phe52=) rs536299678 0.00014
NM_017617.5(NOTCH1):c.3597C>T (p.Leu1199=) rs150666307 0.00014
NM_017617.5(NOTCH1):c.3901+12G>A rs367600561 0.00014
NM_017617.5(NOTCH1):c.5192C>T (p.Pro1731Leu) rs761345476 0.00014
NM_017780.4(CHD7):c.4645-9T>C rs766575601 0.00014
NM_020458.4(TTC7A):c.648+20G>A rs200822853 0.00014
NM_020699.4(GATAD2B):c.1530+14T>C rs574345181 0.00014
NM_020937.4(FANCM):c.30G>A (p.Gln10=) rs145745979 0.00014
NM_020964.3(EPG5):c.1254G>A (p.Ala418=) rs368735317 0.00014
NM_020975.6(RET):c.1017G>A (p.Ser339=) rs369810881 0.00014
NM_020975.6(RET):c.1699G>A (p.Asp567Asn) rs147219360 0.00014
NM_021044.4(DHH):c.192G>A (p.Glu64=) rs201464596 0.00014
NM_022356.4(P3H1):c.1071C>T (p.Gly357=) rs202234531 0.00014
NM_022455.5(NSD1):c.2339C>T (p.Ser780Leu) rs201327209 0.00014
NM_022455.5(NSD1):c.3021T>C (p.Ala1007=) rs201312975 0.00014
NM_023110.3(FGFR1):c.1386G>A (p.Glu462=) rs375796487 0.00014
NM_024009.3(GJB3):c.316C>T (p.Arg106Cys) rs147106166 0.00014
NM_024757.5(EHMT1):c.1135A>G (p.Lys379Glu) rs146711478 0.00014
NM_024757.5(EHMT1):c.437C>T (p.Ser146Leu) rs142652443 0.00014
NM_030578.4(B9D2):c.513C>T (p.Tyr171=) rs143680317 0.00014
NM_032520.5(GNPTG):c.502G>A (p.Val168Ile) rs190614894 0.00014
NM_032861.4(SERAC1):c.1308+17C>A rs201126863 0.00014
NM_080680.3(COL11A2):c.4959C>T (p.Tyr1653=) rs140017436 0.00014
NM_133433.4(NIPBL):c.1056C>T (p.Ser352=) rs200440893 0.00014
NM_138425.4(C12orf57):c.297A>G (p.Ser99=) rs149881070 0.00014
NM_145020.5(CFAP53):c.945A>G (p.Gln315=) rs368815693 0.00014
NM_152383.5(DIS3L2):c.2409G>T (p.Arg803=) rs148106618 0.00014
NM_152419.3(HGSNAT):c.821-28T>C rs201415703 0.00014
NM_152564.5(VPS13B):c.7660G>C (p.Val2554Leu) rs202226215 0.00014
NM_153717.3(EVC):c.2241G>A (p.Ala747=) rs142094016 0.00014
NM_153717.3(EVC):c.2768A>C (p.Lys923Thr) rs748268896 0.00014
NM_153717.3(EVC):c.940-12C>G rs200707006 0.00014
NM_170784.3(MKKS):c.1553G>A (p.Arg518His) rs149051148 0.00014
NM_176787.5(PIGN):c.213G>A (p.Pro71=) rs370553142 0.00014
NM_198525.3(KIF7):c.3252C>T (p.Leu1084=) rs77896636 0.00014
NM_198859.4(PRICKLE2):c.2103G>T (p.Leu701=) rs200220646 0.00014
NM_000044.6(AR):c.814C>T (p.Leu272Phe) rs148972137 0.00013
NM_000052.7(ATP7A):c.3621G>A (p.Glu1207=) rs141535376 0.00013
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) rs144890720 0.00013
NM_000075.4(CDK4):c.834T>C (p.Phe278=) rs115576923 0.00013
NM_000088.4(COL1A1):c.1583G>A (p.Arg528His) rs144751329 0.00013
NM_000088.4(COL1A1):c.627C>T (p.Gly209=) rs201136122 0.00013
NM_000089.4(COL1A2):c.2904C>T (p.Pro968=) rs142352627 0.00013
NM_000090.4(COL3A1):c.3299G>A (p.Arg1100His) rs370069953 0.00013
NM_000093.5(COL5A1):c.1967C>T (p.Pro656Leu) rs748345448 0.00013
NM_000093.5(COL5A1):c.409G>A (p.Val137Ile) rs145757313 0.00013
NM_000165.5(GJA1):c.706G>A (p.Val236Ile) rs148384161 0.00013
NM_000168.6(GLI3):c.168C>T (p.Asn56=) rs376845825 0.00013
NM_000182.5(HADHA):c.1690-14C>T rs142401180 0.00013
NM_000202.8(IDS):c.103+7C>T rs369735286 0.00013
NM_000238.4(KCNH2):c.2412C>A (p.Ile804=) rs551139237 0.00013
NM_000256.3(MYBPC3):c.3326C>T (p.Thr1109Ile) rs397516016 0.00013
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr) rs45478699 0.00013
NM_000264.5(PTCH1):c.2595C>T (p.Thr865=) rs144512837 0.00013
NM_000284.4(PDHA1):c.292-5C>T rs191666624 0.00013
NM_000353.3(TAT):c.804C>T (p.Thr268=) rs535089911 0.00013
NM_000489.6(ATRX):c.2650G>A (p.Glu884Lys) rs200343648 0.00013
NM_000501.4(ELN):c.1358-236G>A rs529133775 0.00013
NM_000503.6(EYA1):c.783G>A (p.Pro261=) rs146648560 0.00013
NM_000719.7(CACNA1C):c.1113+7A>G rs369423529 0.00013
NM_000751.3(CHRND):c.199-19C>T rs145984749 0.00013
NM_000789.4(ACE):c.2791C>T (p.Leu931=) rs141180606 0.00013
NM_001005498.4(RHBDF2):c.239G>A (p.Arg80His) rs143449348 0.00013
NM_001005498.4(RHBDF2):c.25G>A (p.Gly9Arg) rs138667763 0.00013
NM_001018115.3(FANCD2):c.2754A>G (p.Leu918=) rs149395670 0.00013
NM_001039958.2(MESP2):c.306C>A (p.His102Gln) rs77473319 0.00013
NM_001042492.3(NF1):c.1599C>G (p.Val533=) rs369458366 0.00013
NM_001042492.3(NF1):c.2032C>G (p.Pro678Ala) rs758691069 0.00013
NM_001079872.2(CUL4B):c.1962G>A (p.Pro654=) rs185389157 0.00013
NM_001104631.2(PDE4D):c.125C>A (p.Pro42Gln) rs372946517 0.00013
NM_001114753.3(ENG):c.1637C>T (p.Thr546Ile) rs372453075 0.00013
NM_001122630.2(CDKN1C):c.320C>T (p.Pro107Leu) rs771731330 0.00013
NM_001127649.3(PEX26):c.501G>A (p.Val167=) rs201666490 0.00013
NM_001308093.3(GATA4):c.1125C>T (p.Tyr375=) rs56330552 0.00013
NM_001365902.3(NFIX):c.1026G>A (p.Pro342=) rs774838479 0.00013
NM_001368894.2(PAX6):c.957G>A (p.Pro319=) rs146433004 0.00013
NM_001370259.2(MEN1):c.913-42G>C rs529037188 0.00013
NM_001371623.1(TCOF1):c.4284G>T (p.Thr1428=) rs148889187 0.00013
NM_001374828.1(ARID1B):c.1881G>A (p.Pro627=) rs142939952 0.00013
NM_001429.4(EP300):c.1782G>C (p.Thr594=) rs17002307 0.00013
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala) rs147610681 0.00013
NM_001999.4(FBN2):c.76A>G (p.Thr26Ala) rs374922166 0.00013
NM_002181.4(IHH):c.207C>A (p.Gly69=) rs775613506 0.00013
NM_002386.4(MC1R):c.497C>G (p.Ala166Gly) rs35040147 0.00013
NM_002470.4(MYH3):c.3535C>G (p.Leu1179Val) rs375904355 0.00013
NM_002641.4(PIGA):c.716-10A>G rs375371562 0.00013
NM_002734.5(PRKAR1A):c.*1606A>G rs144632545 0.00013
NM_002880.4(RAF1):c.*404G>A rs150460686 0.00013
NM_002880.4(RAF1):c.94A>G (p.Ile32Val) rs372738063 0.00013
NM_002968.3(SALL1):c.235G>C (p.Ala79Pro) rs536108231 0.00013
NM_003036.4(SKI):c.1254C>T (p.Asn418=) rs536126761 0.00013
NM_003052.5(SLC34A1):c.741C>A (p.Ile247=) rs374121143 0.00013
NM_003098.3(SNTA1):c.311-20C>T rs200764326 0.00013
NM_003334.4(UBA1):c.1149C>T (p.Ile383=) rs782140742 0.00013
NM_003482.4(KMT2D):c.8547C>T (p.Ala2849=) rs368381758 0.00013
NM_003588.4(CUL4B):c.26G>A (p.Gly9Glu) rs149016283 0.00013
NM_003611.3(OFD1):c.2060C>T (p.Pro687Leu) rs146251034 0.00013
NM_003924.4(PHOX2B):c.773C>A (p.Ala258Glu) rs747626591 0.00013
NM_003995.4(NPR2):c.2359C>T (p.Arg787Trp) rs114147262 0.00013
NM_004260.4(RECQL4):c.492G>A (p.Glu164=) rs368335924 0.00013
NM_004304.5(ALK):c.*45G>A rs186421480 0.00013
NM_004370.6(COL12A1):c.5133C>T (p.Phe1711=) rs180961776 0.00013
NM_004380.3(CREBBP):c.5776C>G (p.Arg1926Gly) rs778915687 0.00013
NM_004380.3(CREBBP):c.6444C>T (p.Gly2148=) rs148539895 0.00013
NM_004525.3(LRP2):c.12296-7T>A rs200755164 0.00013
NM_004560.4(ROR2):c.986G>A (p.Ser329Asn) rs371221714 0.00013
NM_004959.5(NR5A1):c.462C>T (p.Ala154=) rs776212991 0.00013
NM_005045.4(RELN):c.1708C>G (p.His570Asp) rs374546580 0.00013
NM_005045.4(RELN):c.5398C>G (p.Leu1800Val) rs150148125 0.00013
NM_005120.3(MED12):c.5805C>T (p.Ser1935=) rs201608537 0.00013
NM_005219.5(DIAPH1):c.1964C>G (p.Pro655Arg) rs367669306 0.00013
NM_005236.3(ERCC4):c.973+11A>T rs185779788 0.00013
NM_005327.7(HADH):c.133-15C>T rs190144364 0.00013
NM_005629.4(SLC6A8):c.1473C>T (p.Cys491=) rs122453118 0.00013
NM_006567.5(FARS2):c.873C>T (p.Cys291=) rs372301183 0.00013
NM_006939.4(SOS2):c.2625A>T (p.Ala875=) rs761442415 0.00013
NM_007373.4(SHOC2):c.*16C>A rs753327392 0.00013
NM_012293.3(PXDN):c.3175G>A (p.Ala1059Thr) rs186563338 0.00013
NM_013275.6(ANKRD11):c.5038C>T (p.Leu1680=) rs142473716 0.00013
NM_015335.5(MED13L):c.3498G>T (p.Ala1166=) rs200960898 0.00013
NM_017617.5(NOTCH1):c.19C>T (p.Pro7Ser) rs1397523469 0.00013
NM_017617.5(NOTCH1):c.2326G>A (p.Val776Met) rs377286829 0.00013
NM_017617.5(NOTCH1):c.851C>T (p.Pro284Leu) rs376104770 0.00013
NM_017780.4(CHD7):c.1423A>G (p.Met475Val) rs773039925 0.00013
NM_018006.5(TRMU):c.1158G>A (p.Leu386=) rs79874854 0.00013
NM_018062.4(FANCL):c.108C>G (p.Phe36Leu) rs149726602 0.00013
NM_018136.5(ASPM):c.3960C>T (p.Leu1320=) rs148964635 0.00013
NM_020533.3(MCOLN1):c.339G>A (p.Ala113=) rs180687633 0.00013
NM_020779.4(WDR35):c.765C>T (p.Tyr255=) rs117255034 0.00013
NM_020975.6(RET):c.1893C>T (p.Asp631=) rs55846256 0.00013
NM_020975.6(RET):c.868-6C>T rs367688294 0.00013
NM_021830.5(TWNK):c.-290G>C rs62626270 0.00013
NM_022168.4(IFIH1):c.1812G>A (p.Leu604=) rs118172671 0.00013
NM_022370.4(ROBO3):c.567C>T (p.Pro189=) rs188191103 0.00013
NM_024009.3(GJB3):c.250G>A (p.Val84Ile) rs145751680 0.00013
NM_024665.7(TBL1XR1):c.606C>T (p.Ser202=) rs561869177 0.00013
NM_024757.5(EHMT1):c.1140G>C (p.Glu380Asp) rs368995503 0.00013
NM_024757.5(EHMT1):c.3028G>A (p.Val1010Met) rs200237137 0.00013
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=) rs202228407 0.00013
NM_032444.4(SLX4):c.2226C>T (p.Asp742=) rs376261173 0.00013
NM_058179.4(PSAT1):c.1008-11G>T rs200199574 0.00013
NM_080632.3(UPF3B):c.1073G>A (p.Arg358His) rs181034787 0.00013
NM_133433.4(NIPBL):c.-307C>T rs377354585 0.00013
NM_144966.5(FREM1):c.*2229C>T rs531022615 0.00013
NM_145054.5(CFAP52):c.1641G>A (p.Ser547=) rs143049274 0.00013
NM_147127.5(EVC2):c.1208G>A (p.Ser403Asn) rs202093384 0.00013
NM_152383.5(DIS3L2):c.1597C>A (p.His533Asn) rs372209368 0.00013
NM_152383.5(DIS3L2):c.2329A>G (p.Ile777Val) rs2697798 0.00013
NM_152564.5(VPS13B):c.9035C>G (p.Thr3012Ser) rs576577339 0.00013
NM_152594.3(SPRED1):c.938C>T (p.Thr313Met) rs766814966 0.00013
NM_170707.4(LMNA):c.1488+14C>T rs377700689 0.00013
NM_181486.4(TBX5):c.*563G>A rs78058633 0.00013
NM_198253.3(TERT):c.2383-15C>T rs574645600 0.00013
NM_213599.3(ANO5):c.2256G>A (p.Thr752=) rs144048656 0.00013
NM_000044.6(AR):c.2607+20T>C rs561297300 0.00012
NM_000052.7(ATP7A):c.1138G>A (p.Val380Met) rs149523862 0.00012
NM_000052.7(ATP7A):c.2530C>T (p.Arg844Cys) rs374162669 0.00012
NM_000052.7(ATP7A):c.278C>T (p.Thr93Met) rs539177302 0.00012
NM_000052.7(ATP7A):c.3210C>T (p.His1070=) rs185917115 0.00012
NM_000057.4(BLM):c.2333C>G (p.Ser778Cys) rs139610577 0.00012
NM_000089.4(COL1A2):c.2566-6A>G rs141088934 0.00012
NM_000093.5(COL5A1):c.*1287C>T rs189437752 0.00012
NM_000093.5(COL5A1):c.4968C>T (p.Val1656=) rs201871481 0.00012
NM_000093.5(COL5A1):c.850G>A (p.Glu284Lys) rs75648697 0.00012
NM_000135.4(FANCA):c.2266C>T (p.Arg756Cys) rs556748657 0.00012
NM_000135.4(FANCA):c.3935-6T>C rs368376237 0.00012
NM_000135.4(FANCA):c.4261-9C>G rs368506826 0.00012
NM_000138.5(FBN1):c.6576C>T (p.Cys2192=) rs369058466 0.00012
NM_000168.6(GLI3):c.*1411G>A rs148318176 0.00012
NM_000202.8(IDS):c.667G>A (p.Val223Ile) rs200784263 0.00012
NM_000219.6(KCNE1):c.162C>T (p.Phe54=) rs17173508 0.00012
NM_000256.3(MYBPC3):c.2614G>A (p.Glu872Lys) rs190765116 0.00012
NM_000264.5(PTCH1):c.3376G>A (p.Val1126Ile) rs147025073 0.00012
NM_000264.5(PTCH1):c.3435C>T (p.Phe1145=) rs200435277 0.00012
NM_000284.4(PDHA1):c.*707G>A rs150945967 0.00012
NM_000284.4(PDHA1):c.363C>T (p.His121=) rs183170654 0.00012
NM_000284.4(PDHA1):c.406G>A (p.Ala136Thr) rs138727886 0.00012
NM_000308.4(CTSA):c.468C>T (p.Ala156=) rs190565374 0.00012
NM_000348.4(SRD5A2):c.281+20G>A rs61750392 0.00012
NM_000475.5(NR0B1):c.152G>A (p.Arg51Lys) rs770842444 0.00012
NM_000475.5(NR0B1):c.96G>C (p.Thr32=) rs752999448 0.00012
NM_000489.6(ATRX):c.4317+13T>C rs201710363 0.00012
NM_000489.6(ATRX):c.662+11T>C rs375372323 0.00012
NM_000489.6(ATRX):c.7256A>G (p.Asn2419Ser) rs781853125 0.00012
NM_000553.6(WRN):c.2256A>G (p.Pro752=) rs372016270 0.00012
NM_000719.7(CACNA1C):c.5375A>G (p.Glu1792Gly) rs374177870 0.00012
NM_001015880.2(PAPSS2):c.1401C>T (p.His467=) rs145487582 0.00012
NM_001042492.3(NF1):c.5049C>T (p.Asn1683=) rs140994965 0.00012
NM_001083962.2(TCF4):c.1551C>T (p.Asp517=) rs140862252 0.00012
NM_001101.5(ACTB):c.453C>T (p.Ile151=) rs150837984 0.00012
NM_001106.4(ACVR2B):c.1410C>T (p.Ser470=) rs141985115 0.00012
NM_001114753.3(ENG):c.360+91C>T rs371908386 0.00012
NM_001130144.3(LTBP3):c.1137T>C (p.Cys379=) rs201941540 0.00012
NM_001148.6(ANK2):c.3033C>T (p.Arg1011=) rs142052072 0.00012
NM_001148.6(ANK2):c.7117A>G (p.Thr2373Ala) rs184514058 0.00012
NM_001291867.2(NHS):c.1143C>T (p.Cys381=) rs727504042 0.00012
NM_001291867.2(NHS):c.1228C>G (p.Gln410Glu) rs375878222 0.00012
NM_001291867.2(NHS):c.2119G>T (p.Ala707Ser) rs184275083 0.00012
NM_001370259.2(MEN1):c.1409C>T (p.Pro470Leu) rs750112288 0.00012
NM_001399.5(EDA):c.390G>T (p.Gly130=) rs143746851 0.00012
NM_001429.4(EP300):c.4026-7T>C rs187388966 0.00012
NM_001453.3(FOXC1):c.279C>T (p.Asn93=) rs141798688 0.00012
NM_001844.5(COL2A1):c.147G>A (p.Pro49=) rs372734539 0.00012
NM_001999.4(FBN2):c.2625T>C (p.Cys875=) rs371502563 0.00012
NM_001999.4(FBN2):c.6964A>G (p.Ile2322Val) rs756500246 0.00012
NM_001999.4(FBN2):c.7594+12G>A rs184678810 0.00012
NM_002734.5(PRKAR1A):c.156A>G (p.Glu52=) rs141432364 0.00012
NM_002880.4(RAF1):c.1721A>G (p.Tyr574Cys) rs370242565 0.00012
NM_003052.5(SLC34A1):c.1719A>G (p.Leu573=) rs148575220 0.00012
NM_003072.5(SMARCA4):c.2409T>C (p.Asn803=) rs199634608 0.00012
NM_003079.5(SMARCE1):c.579C>T (p.Thr193=) rs201484943 0.00012
NM_003334.4(UBA1):c.2979C>T (p.Gly993=) rs145283250 0.00012
NM_003482.4(KMT2D):c.5523C>T (p.Ala1841=) rs202165318 0.00012
NM_003482.4(KMT2D):c.6409A>G (p.Thr2137Ala) rs543241831 0.00012
NM_003482.4(KMT2D):c.7543C>T (p.Pro2515Ser) rs767615162 0.00012
NM_003482.4(KMT2D):c.8339C>T (p.Thr2780Met) rs770978212 0.00012
NM_003738.5(PTCH2):c.1533C>T (p.Ala511=) rs76854674 0.00012
NM_003995.4(NPR2):c.1633-10C>A rs201550050 0.00012
NM_004208.4(AIFM1):c.1388G>T (p.Arg463Ile) rs202219398 0.00012
NM_004239.4(TRIP11):c.183T>C (p.His61=) rs138904373 0.00012
NM_004239.4(TRIP11):c.4500C>T (p.Cys1500=) rs140939244 0.00012
NM_004304.5(ALK):c.597C>T (p.Gly199=) rs200868013 0.00012
NM_004456.5(EZH2):c.1884C>G (p.Gly628=) rs61732846 0.00012
NM_005045.4(RELN):c.6200C>T (p.Ser2067Phe) rs368566543 0.00012
NM_005045.4(RELN):c.7268G>A (p.Arg2423His) rs140660860 0.00012
NM_005751.5(AKAP9):c.5058+12T>G rs373705132 0.00012
NM_005921.2(MAP3K1):c.44C>G (p.Pro15Arg) rs765282250 0.00012
NM_005996.4(TBX3):c.789A>G (p.Ala263=) rs754665748 0.00012
NM_006121.4(KRT1):c.1511-11T>C rs201036490 0.00012
NM_006306.4(SMC1A):c.861G>A (p.Lys287=) rs782543093 0.00012
NM_006567.5(FARS2):c.1014C>T (p.Arg338=) rs41302855 0.00012
NM_006767.4(LZTR1):c.351C>T (p.Pro117=) rs202066345 0.00012
NM_006939.4(SOS2):c.702G>A (p.Leu234=) rs200208472 0.00012
NM_013275.6(ANKRD11):c.1577A>T (p.His526Leu) rs374369335 0.00012
NM_014795.4(ZEB2):c.2084G>A (p.Arg695Gln) rs147693839 0.00012
NM_015272.5(RPGRIP1L):c.1719C>T (p.Ala573=) rs375774377 0.00012
NM_015443.4(KANSL1):c.719C>T (p.Pro240Leu) rs767565501 0.00012
NM_015681.6(B9D1):c.245-19C>A rs774504181 0.00012
NM_017617.5(NOTCH1):c.1146C>T (p.Asn382=) rs368665838 0.00012
NM_017617.5(NOTCH1):c.165G>A (p.Pro55=) rs373793124 0.00012
NM_017617.5(NOTCH1):c.2982C>T (p.Asn994=) rs374100421 0.00012
NM_017617.5(NOTCH1):c.4179C>T (p.Gly1393=) rs200664704 0.00012
NM_017780.4(CHD7):c.1203A>G (p.Ala401=) rs147960212 0.00012
NM_018026.4(PACS1):c.698G>A (p.Gly233Asp) rs201067492 0.00012
NM_020529.3(NFKBIA):c.*195C>T rs182929073 0.00012
NM_020751.3(COG6):c.1693-8_1693-6del rs375280565 0.00012
NM_020964.3(EPG5):c.6161C>T (p.Thr2054Met) rs200926094 0.00012
NM_020975.6(RET):c.1880-16C>T rs370491323 0.00012
NM_020975.6(RET):c.597C>T (p.Asn199=) rs55810667 0.00012
NM_020975.6(RET):c.626-7T>C rs768246167 0.00012
NM_021926.4(ALX4):c.-36G>C rs533107251 0.00012
NM_024009.3(GJB3):c.372C>T (p.His124=) rs145436095 0.00012
NM_024312.5(GNPTAB):c.2028G>A (p.Pro676=) rs192607073 0.00012
NM_024312.5(GNPTAB):c.3335+11C>G rs191087950 0.00012
NM_024809.5(TCTN2):c.565-18T>G rs368179378 0.00012
NM_030662.4(MAP2K2):c.581-8G>A rs369262004 0.00012
NM_032444.4(SLX4):c.2235C>T (p.Thr745=) rs75184268 0.00012
NM_080680.3(COL11A2):c.1698C>T (p.Leu566=) rs139350991 0.00012
NM_152564.5(VPS13B):c.5884G>T (p.Val1962Leu) rs375399419 0.00012
NM_153427.3(PITX2):c.-79G>A rs535056127 0.00012
NM_153704.6(TMEM67):c.312+14A>G rs202135944 0.00012
NM_000020.3(ACVRL1):c.993C>T (p.Phe331=) rs56379428 0.00011
NM_000044.6(AR):c.1301C>T (p.Ser434Phe) rs748457992 0.00011
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857 0.00011
NM_000057.4(BLM):c.2638G>C (p.Glu880Gln) rs201770808 0.00011
NM_000075.4(CDK4):c.-11T>C rs746754426 0.00011
NM_000075.4(CDK4):c.813G>A (p.Leu271=) rs1487727732 0.00011
NM_000088.4(COL1A1):c.144T>A (p.His48Gln) rs374065372 0.00011
NM_000088.4(COL1A1):c.2594G>A (p.Arg865His) rs193922150 0.00011
NM_000088.4(COL1A1):c.2613+13C>T rs368380161 0.00011
NM_000090.4(COL3A1):c.1697C>T (p.Pro566Leu) rs150543864 0.00011
NM_000090.4(COL3A1):c.226A>G (p.Asn76Asp) rs142045411 0.00011
NM_000090.4(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075 0.00011
NM_000093.5(COL5A1):c.1832G>A (p.Arg611Gln) rs200590188 0.00011
NM_000093.5(COL5A1):c.1888C>T (p.Arg630Trp) rs577618553 0.00011
NM_000093.5(COL5A1):c.2493C>T (p.Ile831=) rs199630108 0.00011
NM_000093.5(COL5A1):c.3528+19G>T rs200672136 0.00011
NM_000093.5(COL5A1):c.3594C>T (p.Gly1198=) rs146176718 0.00011
NM_000093.5(COL5A1):c.4941C>T (p.Pro1647=) rs747549921 0.00011
NM_000135.4(FANCA):c.1683G>A (p.Thr561=) rs143451067 0.00011
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser) rs575108446 0.00011
NM_000136.3(FANCC):c.1509G>A (p.Thr503=) rs144278080 0.00011
NM_000141.5(FGFR2):c.625-10A>G rs201512833 0.00011
NM_000141.5(FGFR2):c.989G>A (p.Arg330Gln) rs199757302 0.00011
NM_000165.5(GJA1):c.456G>A (p.Leu152=) rs72548741 0.00011
NM_000168.6(GLI3):c.*11A>G rs139896177 0.00011
NM_000182.5(HADHA):c.1690-12C>T rs369641464 0.00011
NM_000202.8(IDS):c.1499C>T (p.Thr500Ile) rs372205468 0.00011
NM_000202.8(IDS):c.236C>G (p.Ala79Gly) rs368513342 0.00011
NM_000202.8(IDS):c.957C>T (p.Asp319=) rs782488487 0.00011
NM_000214.3(JAG1):c.19C>T (p.Arg7Cys) rs563232654 0.00011
NM_000214.3(JAG1):c.3346C>T (p.Arg1116Trp) rs377723772 0.00011
NM_000264.5(PTCH1):c.2177C>G (p.Pro726Arg) rs587780697 0.00011
NM_000264.5(PTCH1):c.2561-7T>C rs112140654 0.00011
NM_000264.5(PTCH1):c.560G>A (p.Arg187His) rs138034434 0.00011
NM_000284.4(PDHA1):c.*1450C>T rs747229060 0.00011
NM_000288.4(PEX7):c.695G>A (p.Arg232Gln) rs191969418 0.00011
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000393.5(COL5A2):c.*561T>C rs564981830 0.00011
NM_000393.5(COL5A2):c.1977+12T>G rs202204374 0.00011
NM_000475.5(NR0B1):c.545G>C (p.Gly182Ala) rs761749382 0.00011
NM_000489.6(ATRX):c.1032C>T (p.Ser344=) rs143491422 0.00011
NM_000489.6(ATRX):c.6869A>G (p.Asn2290Ser) rs368498507 0.00011
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr) rs201504674 0.00011
NM_000891.3(KCNJ2):c.-349C>A rs370696463 0.00011
NM_001005498.4(RHBDF2):c.203G>A (p.Arg68Gln) rs200821841 0.00011
NM_001005498.4(RHBDF2):c.238C>T (p.Arg80Cys) rs369829771 0.00011
NM_001005498.4(RHBDF2):c.361C>T (p.Arg121Cys) rs187556554 0.00011
NM_001005498.4(RHBDF2):c.921-15C>T rs375068386 0.00011
NM_001006657.2(WDR35):c.1215A>G (p.Thr405=) rs144673252 0.00011
NM_001024630.4(RUNX2):c.523A>G (p.Met175Val) rs201647225 0.00011
NM_001024630.4(RUNX2):c.581-9T>C rs374414428 0.00011
NM_001039958.2(MESP2):c.408G>T (p.Ser136=) rs760746152 0.00011
NM_001040167.2(LFNG):c.1074-16T>C rs143421936 0.00011
NM_001042492.3(NF1):c.1005T>C (p.Asn335=) rs777369021 0.00011
NM_001042492.3(NF1):c.960T>A (p.Ala320=) rs376447070 0.00011
NM_001083962.2(TCF4):c.146-11C>G rs191464553 0.00011
NM_001106.4(ACVR2B):c.*5901C>T rs191838801 0.00011
NM_001113378.2(FANCI):c.1856T>A (p.Leu619Gln) rs151038616 0.00011
NM_001122681.2(SH3BP2):c.*5996C>T rs570387883 0.00011
NM_001128225.3(SLC39A13):c.888C>T (p.Phe296=) rs150556863 0.00011
NM_001134831.2(AHI1):c.82C>T (p.Arg28Cys) rs199612496 0.00011
NM_001151.4(SLC25A4):c.756G>A (p.Thr252=) rs150786764 0.00011
NM_001174150.2(ARL13B):c.568A>G (p.Ile190Val) rs193219215 0.00011
NM_001271938.2(MEGF8):c.8139C>T (p.Ser2713=) rs199681302 0.00011
NM_001278689.2(EOGT):c.816C>T (p.Ile272=) rs554241529 0.00011
NM_001282531.3(ADNP):c.3185T>C (p.Ile1062Thr) rs745861253 0.00011
NM_001291415.2(KDM6A):c.3095-18A>G rs775747385 0.00011
NM_001291867.2(NHS):c.1760T>C (p.Met587Thr) rs187739639 0.00011
NM_001291867.2(NHS):c.566-5T>C rs760065199 0.00011
NM_001329943.3(KIAA0586):c.42T>A (p.Ile14=) rs554948147 0.00011
NM_001347721.2(DYRK1A):c.1874A>G (p.Asn625Ser) rs370090236 0.00011
NM_001354604.2(MITF):c.882G>A (p.Ala294=) rs778126895 0.00011
NM_001365902.3(NFIX):c.1236G>A (p.Ser412=) rs367955217 0.00011
NM_001365902.3(NFIX):c.1408G>A (p.Ala470Thr) rs372257657 0.00011
NM_001367561.1(DOCK7):c.3300+15G>A rs145276116 0.00011
NM_001368894.2(PAX6):c.1236C>T (p.Ser412=) rs78290542 0.00011
NM_001369268.1(ACAN):c.2037G>A (p.Ala679=) rs372553119 0.00011
NM_001370259.2(MEN1):c.1535C>T (p.Ser512Leu) rs141679530 0.00011
NM_001370259.2(MEN1):c.339C>T (p.Ser113=) rs559635859 0.00011
NM_001374353.1(GLI2):c.*419C>T rs370777016 0.00011
NM_001378615.1(CC2D2A):c.717+11T>C rs184351317 0.00011
NM_001429.4(EP300):c.2351C>T (p.Pro784Leu) rs201480900 0.00011
NM_001429.4(EP300):c.3502-13G>A rs547213630 0.00011
NM_001429.4(EP300):c.376A>G (p.Met126Val) rs200635644 0.00011
NM_001429.4(EP300):c.454G>A (p.Gly152Ser) rs142758675 0.00011
NM_001429.4(EP300):c.5461C>A (p.Arg1821=) rs780579609 0.00011
NM_001719.3(BMP7):c.945G>A (p.Met315Ile) rs183792918 0.00011
NM_001852.4(COL9A2):c.1781C>T (p.Thr594Met) rs567504204 0.00011
NM_001999.4(FBN2):c.1651A>G (p.Asn551Asp) rs138389072 0.00011
NM_001999.4(FBN2):c.1850-14A>G rs201359451 0.00011
NM_001999.4(FBN2):c.6285A>G (p.Arg2095=) rs28763933 0.00011
NM_001999.4(FBN2):c.7180A>G (p.Ile2394Val) rs141854054 0.00011
NM_001999.4(FBN2):c.7942C>A (p.Gln2648Lys) rs375316758 0.00011
NM_002272.4(KRT4):c.873C>T (p.Ser291=) rs754647771 0.00011
NM_002386.4(MC1R):c.515G>T (p.Ser172Ile) rs376670171 0.00011
NM_002397.5(MEF2C):c.642C>T (p.Asn214=) rs79455305 0.00011
NM_002485.5(NBN):c.1035C>T (p.Gly345=) rs146605798 0.00011
NM_002485.5(NBN):c.1914+10G>A rs577706448 0.00011
NM_002485.5(NBN):c.279G>A (p.Ser93=) rs587780781 0.00011
NM_002541.4(OGDH):c.1032C>T (p.Ser344=) rs149447664 0.00011
NM_002541.4(OGDH):c.222+9C>T rs201280081 0.00011
NM_002541.4(OGDH):c.3042C>T (p.Phe1014=) rs144300328 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_003072.5(SMARCA4):c.1557C>T (p.Asn519=) rs2288845 0.00011
NM_003106.4(SOX2):c.231C>A (p.Ala77=) rs201190086 0.00011
NM_003334.4(UBA1):c.812-4G>A rs372842152 0.00011
NM_003413.4(ZIC3):c.739A>G (p.Ile247Val) rs377356678 0.00011
NM_003482.4(KMT2D):c.10433G>A (p.Ser3478Asn) rs748281405 0.00011
NM_003482.4(KMT2D):c.10741-17C>T rs186586653 0.00011
NM_003482.4(KMT2D):c.11278G>A (p.Gly3760Ser) rs373071174 0.00011
NM_003482.4(KMT2D):c.15694A>G (p.Ile5232Val) rs199593058 0.00011
NM_003482.4(KMT2D):c.4143G>A (p.Val1381=) rs398123745 0.00011
NM_003482.4(KMT2D):c.8245G>A (p.Val2749Met) rs376888531 0.00011
NM_003482.4(KMT2D):c.8539C>T (p.Arg2847Cys) rs374063212 0.00011
NM_003482.4(KMT2D):c.8813C>T (p.Pro2938Leu) rs142395705 0.00011
NM_003482.4(KMT2D):c.9482T>C (p.Met3161Thr) rs199831827 0.00011
NM_003611.3(OFD1):c.1536A>G (p.Gln512=) rs138532127 0.00011
NM_003611.3(OFD1):c.1961G>A (p.Arg654Gln) rs746612831 0.00011
NM_003611.3(OFD1):c.2600-4T>G rs753195130 0.00011
NM_003611.3(OFD1):c.780C>T (p.Leu260=) rs368900892 0.00011
NM_003611.3(OFD1):c.781G>A (p.Val261Ile) rs149733425 0.00011
NM_003611.3(OFD1):c.795G>A (p.Lys265=) rs745443262 0.00011
NM_003611.3(OFD1):c.936-2A>G rs199902986 0.00011
NM_003738.5(PTCH2):c.3589G>A (p.Gly1197Arg) rs55651071 0.00011
NM_004273.5(CHST3):c.*4300G>A rs141062797 0.00011
NM_004304.5(ALK):c.1111G>A (p.Ala371Thr) rs149968229 0.00011
NM_004304.5(ALK):c.2928C>T (p.His976=) rs75895956 0.00011
NM_004304.5(ALK):c.3139G>A (p.Ala1047Thr) rs370049091 0.00011
NM_004380.3(CREBBP):c.6852C>G (p.Thr2284=) rs201161108 0.00011
NM_004415.4(DSP):c.6799A>T (p.Thr2267Ser) rs181378432 0.00011
NM_004484.4(GPC3):c.1631C>T (p.Pro544Leu) rs375606908 0.00011
NM_004525.3(LRP2):c.13359C>T (p.Ser4453=) rs202161925 0.00011
NM_004560.4(ROR2):c.1307C>T (p.Ala436Val) rs149842671 0.00011
NM_004560.4(ROR2):c.2190C>T (p.Asn730=) rs372509332 0.00011
NM_004560.4(ROR2):c.2466C>T (p.Asn822=) rs146432734 0.00011
NM_005045.4(RELN):c.10322G>A (p.Arg3441Gln) rs116463039 0.00011
NM_005236.3(ERCC4):c.793-13A>T rs201159142 0.00011
NM_005359.6(SMAD4):c.*2353C>T rs550660083 0.00011
NM_005629.4(SLC6A8):c.826C>T (p.Leu276=) rs138634140 0.00011
NM_005629.4(SLC6A8):c.87G>C (p.Gly29=) rs782373793 0.00011
NM_005629.4(SLC6A8):c.92C>T (p.Pro31Leu) rs868950793 0.00011
NM_005633.4(SOS1):c.1647A>G (p.Thr549=) rs139683425 0.00011
NM_005660.3(SLC35A2):c.169G>A (p.Ala57Thr) rs151120284 0.00011
NM_005908.4(MANBA):c.849+13A>C rs76954465 0.00011
NM_005921.2(MAP3K1):c.2665G>C (p.Val889Leu) rs56228802 0.00011
NM_005921.2(MAP3K1):c.394G>C (p.Asp132His) rs557606535 0.00011
NM_005982.4(SIX1):c.180C>G (p.Arg60=) rs781519092 0.00011
NM_006015.6(ARID1A):c.2988+36G>A rs372175005 0.00011
NM_006218.4(PIK3CA):c.2198A>G (p.Lys733Arg) rs181194055 0.00011
NM_006859.4(LIAS):c.393+10G>A rs372094616 0.00011
NM_006859.4(LIAS):c.726G>A (p.Pro242=) rs371053949 0.00011
NM_007215.4(POLG2):c.181G>A (p.Gly61Arg) rs144148008 0.00011
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_012082.4(ZFPM2):c.2430A>T (p.Pro810=) rs200002039 0.00011
NM_012330.4(KAT6B):c.4510G>A (p.Glu1504Lys) rs200393557 0.00011
NM_013275.6(ANKRD11):c.2184C>G (p.Ile728Met) rs150810048 0.00011
NM_014244.5(ADAMTS2):c.789C>T (p.Asp263=) rs144235544 0.00011
NM_014795.4(ZEB2):c.1840C>T (p.Leu614=) rs145201706 0.00011
NM_015335.5(MED13L):c.4767G>A (p.Ser1589=) rs573917510 0.00011
NM_015443.4(KANSL1):c.477G>T (p.Lys159Asn) rs188294801 0.00011
NM_015450.3(POT1):c.1686+32A>G rs749702835 0.00011
NM_015681.6(B9D1):c.516C>T (p.Asn172=) rs149758860 0.00011
NM_016169.4(SUFU):c.1245C>T (p.Gly415=) rs144158469 0.00011
NM_017617.5(NOTCH1):c.1837C>T (p.Arg613Cys) rs763988265 0.00011
NM_017617.5(NOTCH1):c.4828G>T (p.Ala1610Ser) rs369467132 0.00011
NM_017780.4(CHD7):c.2273G>A (p.Arg758His) rs202208393 0.00011
NM_017780.4(CHD7):c.8423A>G (p.Asn2808Ser) rs368224943 0.00011
NM_018714.3(COG1):c.2619+11T>A rs144115463 0.00011
NM_020436.5(SALL4):c.1871C>T (p.Thr624Met) rs146604877 0.00011
NM_020806.5(GPHN):c.64+8G>C rs201245603 0.00011
NM_020964.3(EPG5):c.1009-10_1009-9dup rs148293118 0.00011
NM_020975.6(RET):c.1437C>T (p.Ala479=) rs576806356 0.00011
NM_021926.4(ALX4):c.*3999C>T rs369328027 0.00011
NM_022166.4(XYLT1):c.1044C>T (p.Ala348=) rs372015293 0.00011
NM_022168.4(IFIH1):c.1524+19T>C rs374493449 0.00011
NM_022458.4(LMBR1):c.*2596A>G rs550168152 0.00011
NM_022458.4(LMBR1):c.-91C>G rs3735184 0.00011
NM_022458.4(LMBR1):c.432A>G (p.Arg144=) rs141871054 0.00011
NM_022458.4(LMBR1):c.61T>A (p.Ser21Thr) rs367632078 0.00011
NM_024757.5(EHMT1):c.2628C>T (p.Pro876=) rs746543655 0.00011
NM_024757.5(EHMT1):c.3181-15C>T rs766140415 0.00011
NM_024757.5(EHMT1):c.3717-13G>T rs779131156 0.00011
NM_025114.4(CEP290):c.5521G>A (p.Glu1841Lys) rs200158553 0.00011
NM_025132.4(WDR19):c.3027C>T (p.Asp1009=) rs181975379 0.00011
NM_030632.3(ASXL3):c.195G>A (p.Gly65=) rs371104233 0.00011
NM_032444.4(SLX4):c.1925-13A>T rs201324113 0.00011
NM_032444.4(SLX4):c.833G>A (p.Arg278Gln) rs201192909 0.00011
NM_052989.3(IFT122):c.416+12T>C rs141969308 0.00011
NM_153490.3(KRT13):c.*268C>T rs188347004 0.00011
NM_153603.4(COG7):c.525G>A (p.Val175=) rs144180834 0.00011
NM_153717.3(EVC):c.2298C>T (p.Asp766=) rs140546984 0.00011
NM_153717.3(EVC):c.473C>G (p.Ser158Cys) rs150284356 0.00011
NM_173660.5(DOK7):c.189C>T (p.Cys63=) rs372989037 0.00011
NM_181523.3(PIK3R1):c.306G>A (p.Ser102=) rs538021528 0.00011
NM_198253.3(TERT):c.3186C>T (p.Ala1062=) rs201067706 0.00011
NM_000046.5(ARSB):c.204C>A (p.Arg68=) rs559187375 0.00010
NM_000052.7(ATP7A):c.1000G>A (p.Ala334Thr) rs368622356 0.00010
NM_000057.4(BLM):c.3426C>T (p.Ala1142=) rs147148171 0.00010
NM_000071.3(CBS):c.1632C>T (p.Ala544=) rs566810122 0.00010
NM_000089.4(COL1A2):c.2274C>T (p.Pro758=) rs541912705 0.00010
NM_000090.4(COL3A1):c.3775G>A (p.Ala1259Thr) rs776478974 0.00010
NM_000093.5(COL5A1):c.1120G>A (p.Ala374Thr) rs370499963 0.00010
NM_000093.5(COL5A1):c.1754C>T (p.Pro585Leu) rs530442560 0.00010
NM_000093.5(COL5A1):c.1970C>T (p.Pro657Leu) rs149912828 0.00010
NM_000093.5(COL5A1):c.2038C>T (p.Pro680Ser) rs376920171 0.00010
NM_000093.5(COL5A1):c.2386-7C>T rs746845504 0.00010
NM_000093.5(COL5A1):c.4659G>A (p.Pro1553=) rs368782334 0.00010
NM_000093.5(COL5A1):c.5034G>A (p.Ser1678=) rs148006741 0.00010
NM_000202.8(IDS):c.881G>A (p.Arg294Gln) rs782445506 0.00010
NM_000214.3(JAG1):c.1570-20G>A rs140937305 0.00010
NM_000256.3(MYBPC3):c.684T>G (p.Asp228Glu) rs532498780 0.00010
NM_000256.3(MYBPC3):c.999C>T (p.Tyr333=) rs367947846 0.00010
NM_000264.5(PTCH1):c.1809C>T (p.Arg603=) rs145690756 0.00010
NM_000264.5(PTCH1):c.3908G>A (p.Arg1303His) rs779365332 0.00010
NM_000314.8(PTEN):c.579G>A (p.Leu193=) rs568851024 0.00010
NM_000346.4(SOX9):c.477G>A (p.Glu159=) rs369677666 0.00010
NM_000478.6(ALPL):c.*473G>T rs536009840 0.00010
NM_000489.6(ATRX):c.3880G>C (p.Asp1294His) rs782386546 0.00010
NM_000489.6(ATRX):c.4214+6A>G rs782562759 0.00010
NM_000489.6(ATRX):c.6871A>G (p.Ile2291Val) rs374244026 0.00010
NM_000489.6(ATRX):c.831C>T (p.Val277=) rs142561199 0.00010
NM_000493.4(COL10A1):c.924A>C (p.Gly308=) rs374250798 0.00010
NM_000501.4(ELN):c.1271G>A (p.Gly424Glu) rs782725817 0.00010
NM_000501.4(ELN):c.1414+20G>A rs200995478 0.00010
NM_000501.4(ELN):c.460G>A (p.Val154Met) rs145669576 0.00010
NM_000528.4(MAN2B1):c.2670A>G (p.Ser890=) rs199606152 0.00010
NM_001018113.3(FANCB):c.2342A>G (p.Glu781Gly) rs140363445 0.00010
NM_001018113.3(FANCB):c.504C>G (p.Ser168=) rs373738816 0.00010
NM_001042492.3(NF1):c.2178G>C (p.Val726=) rs369590240 0.00010
NM_001042492.3(NF1):c.2252-34T>C rs200937398 0.00010
NM_001042492.3(NF1):c.2541T>C (p.Leu847=) rs147433258 0.00010
NM_001083962.2(TCF4):c.923-17G>T rs550597992 0.00010
NM_001104631.2(PDE4D):c.1041T>C (p.Pro347=) rs767986152 0.00010
NM_001122681.2(SH3BP2):c.1320C>T (p.Gly440=) rs769046491 0.00010
NM_001122681.2(SH3BP2):c.518-15C>G rs147331573 0.00010
NM_001148.6(ANK2):c.962G>A (p.Arg321Gln) rs150226540 0.00010
NM_001291415.2(KDM6A):c.3955A>G (p.Ile1319Val) rs372785727 0.00010
NM_001308093.3(GATA4):c.1223C>A (p.Pro408Gln) rs115099192 0.00010
NM_001347721.2(DYRK1A):c.489+9A>G rs187936450 0.00010
NM_001351132.2(PEX5):c.1653C>G (p.Leu551=) rs200215904 0.00010
NM_001368809.2(AMPD2):c.1080+9T>C rs202160763 0.00010
NM_001370259.2(MEN1):c.1638G>A (p.Pro546=) rs368783097 0.00010
NM_001370259.2(MEN1):c.492C>T (p.Ala164=) rs146759807 0.00010
NM_001371623.1(TCOF1):c.3537G>A (p.Arg1179=) rs200202637 0.00010
NM_001374353.1(GLI2):c.1260C>T (p.Thr420=) rs200497671 0.00010
NM_001378615.1(CC2D2A):c.2117G>A (p.Arg706Gln) rs778205727 0.00010
NM_001378964.1(CDON):c.3459T>C (p.Ser1153=) rs186048531 0.00010
NM_001429.4(EP300):c.2925A>G (p.Glu975=) rs75752076 0.00010
NM_001814.6(CTSC):c.1293C>T (p.Thr431=) rs371808747 0.00010
NM_001999.4(FBN2):c.157G>A (p.Gly53Ser) rs146807421 0.00010
NM_001999.4(FBN2):c.158G>A (p.Gly53Asp) rs375093230 0.00010
NM_001999.4(FBN2):c.2856G>T (p.Thr952=) rs556038110 0.00010
NM_001999.4(FBN2):c.3217+13G>A rs572013507 0.00010
NM_001999.4(FBN2):c.5983G>A (p.Gly1995Ser) rs145588052 0.00010
NM_001999.4(FBN2):c.6681A>G (p.Thr2227=) rs145681607 0.00010
NM_001999.4(FBN2):c.8674G>T (p.Asp2892Tyr) rs557212203 0.00010
NM_002010.3(FGF9):c.*442T>C rs573811075 0.00010
NM_002272.4(KRT4):c.1419C>T (p.Ser473=) rs534019513 0.00010
NM_002272.4(KRT4):c.475G>A (p.Glu159Lys) rs188245182 0.00010
NM_002334.4(LRP4):c.4613G>A (p.Arg1538Gln) rs140495790 0.00010
NM_002397.5(MEF2C):c.1207A>G (p.Thr403Ala) rs753002290 0.00010
NM_002397.5(MEF2C):c.180C>T (p.Thr60=) rs773278207 0.00010
NM_002470.4(MYH3):c.5074A>G (p.Thr1692Ala) rs140180067 0.00010
NM_002470.4(MYH3):c.5331C>T (p.Ser1777=) rs200111154 0.00010
NM_002485.5(NBN):c.-2C>T rs202104448 0.00010
NM_002641.4(PIGA):c.1214C>T (p.Ala405Val) rs201361742 0.00010
NM_002641.4(PIGA):c.1403A>G (p.Tyr468Cys) rs761613346 0.00010
NM_003052.5(SLC34A1):c.1483C>T (p.Arg495Cys) rs199565633 0.00010
NM_003072.5(SMARCA4):c.2022G>T (p.Pro674=) rs539865173 0.00010
NM_003072.5(SMARCA4):c.2460C>T (p.Tyr820=) rs372410282 0.00010
NM_003072.5(SMARCA4):c.4011C>T (p.Leu1337=) rs377720149 0.00010
NM_003334.4(UBA1):c.1482C>T (p.Cys494=) rs782484295 0.00010
NM_003334.4(UBA1):c.2003+12G>A rs373695438 0.00010
NM_003334.4(UBA1):c.388G>C (p.Val130Leu) rs782523969 0.00010
NM_003482.4(KMT2D):c.13220T>C (p.Val4407Ala) rs185126345 0.00010
NM_003482.4(KMT2D):c.14080G>C (p.Glu4694Gln) rs587778483 0.00010
NM_003482.4(KMT2D):c.3027G>A (p.Val1009=) rs138227815 0.00010
NM_003482.4(KMT2D):c.6821C>T (p.Ser2274Leu) rs767236217 0.00010
NM_003611.3(OFD1):c.935+12A>G rs199773671 0.00010
NM_003722.5(TP63):c.1877T>G (p.Val626Gly) rs372318389 0.00010
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys) rs201711375 0.00010
NM_004370.6(COL12A1):c.732G>A (p.Val244=) rs200141559 0.00010
NM_004380.3(CREBBP):c.5271C>T (p.Gly1757=) rs190121951 0.00010
NM_004560.4(ROR2):c.146G>T (p.Gly49Val) rs201991252 0.00010
NM_005045.4(RELN):c.1655T>C (p.Val552Ala) rs144116037 0.00010
NM_005045.4(RELN):c.6853C>T (p.Arg2285Cys) rs144565023 0.00010
NM_005045.4(RELN):c.7350-15T>C rs532399420 0.00010
NM_005359.6(SMAD4):c.*12G>A rs148687037 0.00010
NM_005359.6(SMAD4):c.424+5G>A rs200772603 0.00010
NM_005629.4(SLC6A8):c.1496-4G>A rs782589547 0.00010
NM_005629.4(SLC6A8):c.1662G>A (p.Pro554=) rs149677083 0.00010
NM_005629.4(SLC6A8):c.912+9G>A rs782694291 0.00010
NM_005633.4(SOS1):c.553A>G (p.Ile185Val) rs143962515 0.00010
NM_005921.2(MAP3K1):c.3498C>T (p.Thr1166=) rs200078723 0.00010
NM_005982.4(SIX1):c.-121C>G rs375002099 0.00010
NM_006767.4(LZTR1):c.263+7G>A rs185749722 0.00010
NM_007078.3(LDB3):c.273G>A (p.Thr91=) rs45613039 0.00010
NM_007373.4(SHOC2):c.*1106A>C rs118172559 0.00010
NM_012330.4(KAT6B):c.4036G>T (p.Asp1346Tyr) rs542036896 0.00010
NM_012330.4(KAT6B):c.699A>G (p.Glu233=) rs188787788 0.00010
NM_013275.6(ANKRD11):c.1725C>T (p.Ser575=) rs151124308 0.00010
NM_013275.6(ANKRD11):c.69G>A (p.Glu23=) rs533051571 0.00010
NM_014244.5(ADAMTS2):c.1431G>A (p.Ala477=) rs147259971 0.00010
NM_014244.5(ADAMTS2):c.423C>T (p.Gly141=) rs755099137 0.00010
NM_014423.4(AFF4):c.1401G>A (p.Pro467=) rs138376057 0.00010
NM_014423.4(AFF4):c.2445C>T (p.Pro815=) rs138116584 0.00010
NM_014795.4(ZEB2):c.1587G>A (p.Thr529=) rs148709333 0.00010
NM_015335.5(MED13L):c.1447C>A (p.Pro483Thr) rs558160659 0.00010
NM_015338.6(ASXL1):c.3540T>C (p.Asp1180=) rs148597247 0.00010
NM_015443.4(KANSL1):c.3146A>G (p.Glu1049Gly) rs771796347 0.00010
NM_016204.4(GDF2):c.378C>A (p.Phe126Leu) rs180821007 0.00010
NM_017617.5(NOTCH1):c.2636G>A (p.Arg879Gln) rs368011392 0.00010
NM_017617.5(NOTCH1):c.2969+14G>A rs112192550 0.00010
NM_017617.5(NOTCH1):c.4372G>A (p.Ala1458Thr) rs200495793 0.00010
NM_017617.5(NOTCH1):c.4537G>A (p.Gly1513Ser) rs765844768 0.00010
NM_017617.5(NOTCH1):c.5414T>C (p.Leu1805Pro) rs201779159 0.00010
NM_017617.5(NOTCH1):c.6788G>A (p.Arg2263Gln) rs200521815 0.00010
NM_017780.4(CHD7):c.6682G>A (p.Gly2228Arg) rs200907656 0.00010
NM_020458.4(TTC7A):c.1569-18C>T rs201116007 0.00010
NM_020458.4(TTC7A):c.666G>A (p.Thr222=) rs374954171 0.00010
NM_020779.4(WDR35):c.2835A>G (p.Glu945=) rs182928585 0.00010
NM_020975.6(RET):c.1353G>T (p.Thr451=) rs201568301 0.00010
NM_020975.6(RET):c.1879+17C>T rs369920430 0.00010
NM_020975.6(RET):c.3243T>C (p.Asp1081=) rs144192900 0.00010
NM_021625.5(TRPV4):c.1398C>T (p.Phe466=) rs146929022 0.00010
NM_022166.4(XYLT1):c.1289+13A>G rs759329282 0.00010
NM_022168.4(IFIH1):c.2052T>C (p.Asn684=) rs781523339 0.00010
NM_022455.5(NSD1):c.1317C>T (p.Asn439=) rs150421873 0.00010
NM_023110.3(FGFR1):c.75G>A (p.Pro25=) rs17175757 0.00010
NM_024009.3(GJB3):c.-40G>A rs559520550 0.00010
NM_024312.5(GNPTAB):c.2915+15T>C rs201970402 0.00010
NM_024757.5(EHMT1):c.1081G>A (p.Gly361Ser) rs143891279 0.00010
NM_024757.5(EHMT1):c.3324G>A (p.Ala1108=) rs377320362 0.00010
NM_025114.4(CEP290):c.6806T>C (p.Ile2269Thr) rs200090371 0.00010
NM_032861.4(SERAC1):c.1933C>T (p.Arg645Cys) rs114624250 0.00010
NM_033337.3(CAV3):c.168C>T (p.Gly56=) rs116840774 0.00010
NM_052989.3(IFT122):c.229G>A (p.Val77Ile) rs369525803 0.00010
NM_080632.3(UPF3B):c.1260A>G (p.Glu420=) rs777574933 0.00010
NM_133433.4(NIPBL):c.8085G>A (p.Thr2695=) rs201036501 0.00010
NM_138959.3(VANGL1):c.248C>T (p.Ser83Leu) rs146695372 0.00010
NM_152594.3(SPRED1):c.26A>T (p.Asp9Val) rs200157475 0.00010
NM_153490.3(KRT13):c.815G>A (p.Arg272His) rs142526332 0.00010
NM_198859.4(PRICKLE2):c.1395C>T (p.Ile465=) rs759852197 0.00010
NM_000027.4(AGA):c.807-12dup rs749999445 0.00009
NM_000044.6(AR):c.2517C>T (p.Leu839=) rs6153 0.00009
NM_000052.7(ATP7A):c.2407-14G>T rs782184126 0.00009
NM_000052.7(ATP7A):c.2531G>A (p.Arg844His) rs367775730 0.00009
NM_000088.4(COL1A1):c.1783G>T (p.Ala595Ser) rs376047287 0.00009
NM_000088.4(COL1A1):c.4372G>A (p.Val1458Ile) rs138557594 0.00009
NM_000088.4(COL1A1):c.858+24G>A rs532741992 0.00009
NM_000093.5(COL5A1):c.*608G>A rs537858864 0.00009
NM_000093.5(COL5A1):c.1283C>T (p.Ser428Leu) rs770793962 0.00009
NM_000093.5(COL5A1):c.1303C>G (p.Pro435Ala) rs377488010 0.00009
NM_000093.5(COL5A1):c.1726C>T (p.Pro576Ser) rs763246328 0.00009
NM_000093.5(COL5A1):c.191C>T (p.Thr64Met) rs777376620 0.00009
NM_000093.5(COL5A1):c.1935+12C>T rs368245632 0.00009
NM_000093.5(COL5A1):c.2134-11G>C rs369317619 0.00009
NM_000093.5(COL5A1):c.2331+15C>T rs369093559 0.00009
NM_000093.5(COL5A1):c.3691-9T>C rs187584029 0.00009
NM_000093.5(COL5A1):c.3744+19C>T rs200498760 0.00009
NM_000093.5(COL5A1):c.4172A>G (p.Lys1391Arg) rs201801000 0.00009
NM_000093.5(COL5A1):c.4607C>T (p.Pro1536Leu) rs761837954 0.00009
NM_000093.5(COL5A1):c.5097C>G (p.Asn1699Lys) rs138396959 0.00009
NM_000093.5(COL5A1):c.5389A>C (p.Lys1797Gln) rs560106611 0.00009
NM_000093.5(COL5A1):c.5469G>C (p.Ala1823=) rs367657505 0.00009
NM_000112.4(SLC26A2):c.1761C>T (p.Leu587=) rs745590895 0.00009
NM_000124.4(ERCC6):c.3965G>T (p.Gly1322Val) rs4253219 0.00009
NM_000135.4(FANCA):c.1900+7T>A rs377401016 0.00009
NM_000135.4(FANCA):c.2309G>A (p.Arg770His) rs145552439 0.00009
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=) rs55758861 0.00009
NM_000135.4(FANCA):c.4177G>A (p.Val1393Met) rs199652831 0.00009
NM_000136.3(FANCC):c.251-20T>C rs370867462 0.00009
NM_000138.5(FBN1):c.396T>C (p.Asp132=) rs147481356 0.00009
NM_000138.5(FBN1):c.7846A>G (p.Ile2616Val) rs143677764 0.00009
NM_000141.5(FGFR2):c.33C>T (p.Val11=) rs200562301 0.00009
NM_000165.5(GJA1):c.612G>A (p.Thr204=) rs766082259 0.00009
NM_000168.6(GLI3):c.288C>T (p.His96=) rs200905584 0.00009
NM_000168.6(GLI3):c.3893C>T (p.Pro1298Leu) rs182571462 0.00009
NM_000168.6(GLI3):c.539G>A (p.Arg180Gln) rs140772904 0.00009
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381 0.00009
NM_000182.5(HADHA):c.1284C>T (p.Asn428=) rs199535840 0.00009
NM_000202.8(IDS):c.1227G>A (p.Thr409=) rs201905166 0.00009
NM_000202.8(IDS):c.234T>C (p.Phe78=) rs782290556 0.00009
NM_000203.5(IDUA):c.405C>T (p.Ser135=) rs201326626 0.00009
NM_000214.3(JAG1):c.2350A>G (p.Asn784Asp) rs760470297 0.00009
NM_000218.3(KCNQ1):c.1033-12A>G rs200423553 0.00009
NM_000238.4(KCNH2):c.1635C>T (p.Tyr545=) rs200692436 0.00009
NM_000238.4(KCNH2):c.1800C>T (p.Ser600=) rs143518632 0.00009
NM_000238.4(KCNH2):c.1946-19C>T rs369192064 0.00009
NM_000238.4(KCNH2):c.3228C>T (p.Pro1076=) rs41312087 0.00009
NM_000264.5(PTCH1):c.174C>T (p.Ala58=) rs368563182 0.00009
NM_000264.5(PTCH1):c.3531C>T (p.Phe1177=) rs587780702 0.00009
NM_000264.5(PTCH1):c.4219G>A (p.Gly1407Ser) rs56161606 0.00009
NM_000284.4(PDHA1):c.1114G>A (p.Asp372Asn) rs199879809 0.00009
NM_000284.4(PDHA1):c.118-17A>G rs749601456 0.00009
NM_000368.5(TSC1):c.1333+5A>G rs118203515 0.00009
NM_000393.5(COL5A2):c.2712G>A (p.Pro904=) rs372869641 0.00009
NM_000393.5(COL5A2):c.3542T>G (p.Val1181Gly) rs200845884 0.00009
NM_000404.4(GLB1):c.1192A>G (p.Ile398Val) rs199692082 0.00009
NM_000404.4(GLB1):c.1234-17A>T rs185922201 0.00009
NM_000474.4(TWIST1):c.330G>A (p.Arg110=) rs199932465 0.00009
NM_000489.6(ATRX):c.189+7A>G rs781842591 0.00009
NM_000489.6(ATRX):c.3065G>A (p.Arg1022Gln) rs781811015 0.00009
NM_000489.6(ATRX):c.3527A>T (p.Lys1176Met) rs191563592 0.00009
NM_000489.6(ATRX):c.570T>G (p.Pro190=) rs188831993 0.00009
NM_000489.6(ATRX):c.798C>T (p.Tyr266=) rs376341197 0.00009
NM_000501.4(ELN):c.1918+19T>G rs557259683 0.00009
NM_000528.4(MAN2B1):c.594C>T (p.Phe198=) rs371341958 0.00009
NM_000719.7(CACNA1C):c.1734G>A (p.Leu578=) rs150692845 0.00009
NM_000719.7(CACNA1C):c.4659C>T (p.Asp1553=) rs563090568 0.00009
NM_000719.7(CACNA1C):c.5235C>T (p.His1745=) rs201861473 0.00009
NM_000719.7(CACNA1C):c.5444+719G>A rs765829807 0.00009
NM_000751.3(CHRND):c.525G>A (p.Thr175=) rs56203086 0.00009
NM_000781.3(CYP11A1):c.1091A>G (p.Gln364Arg) rs57982762 0.00009
NM_000890.5(KCNJ5):c.312C>T (p.Phe104=) rs201217363 0.00009
NM_001001433.3(STX16):c.-160G>A rs368572667 0.00009
NM_001011658.4(TRAPPC2):c.*302A>G rs771210112 0.00009
NM_001015880.2(PAPSS2):c.27+18G>A rs750670771 0.00009
NM_001042492.3(NF1):c.5757G>A (p.Glu1919=) rs141077224 0.00009
NM_001042492.3(NF1):c.7322-14C>T rs377244887 0.00009
NM_001114753.3(ENG):c.1040A>G (p.Lys347Arg) rs150829904 0.00009
NM_001122681.2(SH3BP2):c.1407-19T>C rs754090078 0.00009
NM_001122681.2(SH3BP2):c.1624G>A (p.Val542Met) rs201983777 0.00009
NM_001148.6(ANK2):c.11181C>T (p.Gly3727=) rs185569619 0.00009
NM_001148.6(ANK2):c.2127T>C (p.Asn709=) rs113454484 0.00009
NM_001148.6(ANK2):c.2712C>T (p.Ser904=) rs149310669 0.00009
NM_001148.6(ANK2):c.5313G>A (p.Lys1771=) rs140992864 0.00009
NM_001203.3(BMPR1B):c.16G>A (p.Ala6Thr) rs143885868 0.00009
NM_001203.3(BMPR1B):c.891C>T (p.Asp297=) rs112111860 0.00009
NM_001271938.2(MEGF8):c.1572C>T (p.Ser524=) rs375943387 0.00009
NM_001276345.2(TNNT2):c.295-19C>T rs587780969 0.00009
NM_001291415.2(KDM6A):c.3300+20A>C rs769466820 0.00009
NM_001291867.2(NHS):c.2905G>A (p.Ala969Thr) rs762685365 0.00009
NM_001291867.2(NHS):c.3408G>A (p.Thr1136=) rs370811549 0.00009
NM_001291867.2(NHS):c.766C>G (p.Leu256Val) rs200598087 0.00009
NM_001330078.2(NRXN1):c.821-4A>G rs768708962 0.00009
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp) rs143329068 0.00009
NM_001370259.2(MEN1):c.655-4del rs748005956 0.00009
NM_001371623.1(TCOF1):c.1299C>A (p.Ala433=) rs200762971 0.00009
NM_001371623.1(TCOF1):c.1714T>C (p.Leu572=) rs111705180 0.00009
NM_001374353.1(GLI2):c.321G>A (p.Pro107=) rs578011257 0.00009
NM_001378615.1(CC2D2A):c.3872T>C (p.Ile1291Thr) rs370492044 0.00009
NM_001378615.1(CC2D2A):c.922T>C (p.Phe308Leu) rs201465430 0.00009
NM_001378964.1(CDON):c.1414C>G (p.Pro472Ala) rs750020763 0.00009
NM_001378964.1(CDON):c.3191G>A (p.Ser1064Asn) rs113558382 0.00009
NM_001429.4(EP300):c.1443G>A (p.Pro481=) rs374768898 0.00009
NM_001429.4(EP300):c.3162A>G (p.Leu1054=) rs139758629 0.00009
NM_001429.4(EP300):c.5598G>A (p.Pro1866=) rs560633624 0.00009
NM_001614.5(ACTG1):c.231C>T (p.Thr77=) rs375450454 0.00009
NM_001614.5(ACTG1):c.364-9C>T rs375907911 0.00009
NM_001614.5(ACTG1):c.45C>T (p.Gly15=) rs145574149 0.00009
NM_001614.5(ACTG1):c.564C>T (p.Tyr188=) rs141964376 0.00009
NM_001614.5(ACTG1):c.612C>T (p.Ala204=) rs368022367 0.00009
NM_001614.5(ACTG1):c.954C>T (p.Thr318=) rs3211110 0.00009
NM_001852.4(COL9A2):c.1237C>T (p.Pro413Ser) rs201985170 0.00009
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=) rs147633551 0.00009
NM_001999.4(FBN2):c.3655A>G (p.Met1219Val) rs201288931 0.00009
NM_002334.4(LRP4):c.2092+17C>T rs200761003 0.00009
NM_002386.4(MC1R):c.414C>T (p.Ile138=) rs377411334 0.00009
NM_002834.3(PTPN11):c.-287G>C rs377496292 0.00009
NM_002968.3(SALL1):c.2373C>A (p.Gly791=) rs377295510 0.00009
NM_003052.5(SLC34A1):c.510C>T (p.Ile170=) rs552176812 0.00009
NM_003070.5(SMARCA2):c.680A>C (p.Gln227Pro) rs940521825 0.00009
NM_003070.5(SMARCA2):c.734A>T (p.Gln245Leu) rs760953290 0.00009
NM_003072.5(SMARCA4):c.3975C>T (p.Arg1325=) rs144803359 0.00009
NM_003072.5(SMARCA4):c.4293C>T (p.Arg1431=) rs149670457 0.00009
NM_003334.4(UBA1):c.574C>T (p.Arg192Trp) rs185589110 0.00009
NM_003482.4(KMT2D):c.10445G>A (p.Arg3482Gln) rs371223664 0.00009
NM_003482.4(KMT2D):c.4395C>T (p.Pro1465=) rs574333340 0.00009
NM_003482.4(KMT2D):c.7578A>G (p.Ala2526=) rs375844857 0.00009
NM_003611.3(OFD1):c.1271A>G (p.Asn424Ser) rs532274932 0.00009
NM_003611.3(OFD1):c.476T>C (p.Met159Thr) rs141708295 0.00009
NM_003722.5(TP63):c.*2318G>A rs199834330 0.00009
NM_003923.3(FOXH1):c.525G>A (p.Gly175=) rs374775293 0.00009
NM_004064.5(CDKN1B):c.-10C>T rs374913823 0.00009
NM_004208.4(AIFM1):c.366A>G (p.Glu122=) rs756883753 0.00009
NM_004260.4(RECQL4):c.2874C>T (p.Ala958=) rs748601844 0.00009
NM_004260.4(RECQL4):c.633T>C (p.Asp211=) rs571624962 0.00009
NM_004304.5(ALK):c.1128C>T (p.Leu376=) rs200396075 0.00009
NM_004304.5(ALK):c.2632+8G>A rs199653862 0.00009
NM_004370.6(COL12A1):c.8416-14A>G rs202033555 0.00009
NM_004380.3(CREBBP):c.2854G>A (p.Val952Met) rs369930675 0.00009
NM_004380.3(CREBBP):c.5667G>A (p.Pro1889=) rs377023934 0.00009
NM_004380.3(CREBBP):c.5769C>T (p.Ser1923=) rs772392148 0.00009
NM_004380.3(CREBBP):c.681T>C (p.Pro227=) rs201193684 0.00009
NM_004387.4(NKX2-5):c.*296G>C rs540202205 0.00009
NM_004565.3(PEX14):c.488-14C>T rs200684088 0.00009
NM_004629.2(FANCG):c.375C>G (p.Val125=) rs199754122 0.00009
NM_004629.2(FANCG):c.646+15T>C rs551775705 0.00009
NM_004629.2(FANCG):c.647-16C>A rs200107462 0.00009
NM_005219.5(DIAPH1):c.117+8T>A rs548327056 0.00009
NM_005413.4(SIX3):c.351G>A (p.Val117=) rs199742584 0.00009
NM_005445.4(SMC3):c.1581T>C (p.His527=) rs182445355 0.00009
NM_005585.5(SMAD6):c.405C>T (p.Ala135=) rs538097406 0.00009
NM_005592.4(MUSK):c.2532A>G (p.Ala844=) rs193214210 0.00009
NM_005592.4(MUSK):c.312T>C (p.Gly104=) rs56181115 0.00009
NM_005629.4(SLC6A8):c.1141+6G>A rs373124777 0.00009
NM_005629.4(SLC6A8):c.1680G>A (p.Met560Ile) rs781816805 0.00009
NM_005629.4(SLC6A8):c.282C>T (p.Tyr94=) rs375818489 0.00009
NM_005629.4(SLC6A8):c.856C>T (p.Leu286=) rs782005985 0.00009
NM_005996.4(TBX3):c.1527C>A (p.Gly509=) rs764271389 0.00009
NM_006031.6(PCNT):c.6822G>A (p.Pro2274=) rs375741970 0.00009
NM_006121.4(KRT1):c.1912A>G (p.Thr638Ala) rs140098565 0.00009
NM_006147.4(IRF6):c.9C>T (p.Leu3=) rs78599614 0.00009
NM_006939.4(SOS2):c.2520A>G (p.Ala840=) rs775682587 0.00009
NM_006939.4(SOS2):c.3066A>G (p.Pro1022=) rs201696354 0.00009
NM_012082.4(ZFPM2):c.1003C>G (p.Leu335Val) rs376235097 0.00009
NM_012330.4(KAT6B):c.3264A>G (p.Glu1088=) rs551589427 0.00009
NM_012330.4(KAT6B):c.839G>A (p.Arg280Lys) rs148243411 0.00009
NM_013275.6(ANKRD11):c.7324C>T (p.Leu2442=) rs373934412 0.00009
NM_014140.4(SMARCAL1):c.2226G>A (p.Thr742=) rs2271335 0.00009
NM_014423.4(AFF4):c.2529A>G (p.Ser843=) rs201355729 0.00009
NM_014846.4(WASHC5):c.418-9T>G rs760094704 0.00009
NM_014918.5(CHSY1):c.320+6C>T rs553473414 0.00009
NM_015139.3(SLC35D1):c.797+16C>T rs374531477 0.00009
NM_015713.5(RRM2B):c.790-9T>C rs573435546 0.00009
NM_017617.5(NOTCH1):c.4157C>T (p.Pro1386Leu) rs367710569 0.00009
NM_017617.5(NOTCH1):c.4290C>T (p.Tyr1430=) rs78857347 0.00009
NM_017617.5(NOTCH1):c.4652G>T (p.Ser1551Ile) rs774068657 0.00009
NM_017617.5(NOTCH1):c.527G>A (p.Arg176Gln) rs375065108 0.00009
NM_017617.5(NOTCH1):c.999C>T (p.Ser333=) rs751646144 0.00009
NM_017780.4(CHD7):c.2182G>C (p.Asp728His) rs756365280 0.00009
NM_017780.4(CHD7):c.608A>G (p.His203Arg) rs375277827 0.00009
NM_018026.4(PACS1):c.2413G>A (p.Ala805Thr) rs184092629 0.00009
NM_018136.5(ASPM):c.9539A>C (p.Gln3180Pro) rs193251130 0.00009
NM_018486.3(HDAC8):c.20C>G (p.Pro7Arg) rs147689487 0.00009
NM_020458.4(TTC7A):c.2445G>A (p.Ala815=) rs538187043 0.00009
NM_020964.3(EPG5):c.2374G>A (p.Glu792Lys) rs188738484 0.00009
NM_020975.6(RET):c.1530C>T (p.Ala510=) rs553492964 0.00009
NM_020975.6(RET):c.2136+15G>A rs751183869 0.00009
NM_021922.3(FANCE):c.1317-11C>T rs147572271 0.00009
NM_022114.4(PRDM16):c.3301G>A (p.Val1101Met) rs201654872 0.00009
NM_022356.4(P3H1):c.327C>T (p.Phe109=) rs370773974 0.00009
NM_022455.5(NSD1):c.1364T>C (p.Met455Thr) rs143585233 0.00009
NM_022455.5(NSD1):c.7275A>G (p.Leu2425=) rs139879749 0.00009
NM_022458.4(LMBR1):c.*1470G>A rs549976103 0.00009
NM_022458.4(LMBR1):c.770C>T (p.Ser257Leu) rs182641358 0.00009
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp) rs149242794 0.00009
NM_023110.3(FGFR1):c.1520G>A (p.Arg507His) rs369356672 0.00009
NM_023110.3(FGFR1):c.375G>A (p.Ser125=) rs17182296 0.00009
NM_024426.6(WT1):c.381C>G (p.Pro127=) rs771681406 0.00009
NM_024537.4(CARS2):c.1059C>T (p.Ile353=) rs200079151 0.00009
NM_024665.7(TBL1XR1):c.90A>C (p.Ile30=) rs201359736 0.00009
NM_024757.5(EHMT1):c.184G>A (p.Asp62Asn) rs112003143 0.00009
NM_024757.5(EHMT1):c.3848A>C (p.Glu1283Ala) rs398124408 0.00009
NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys) rs373269573 0.00009
NM_030632.3(ASXL3):c.5173G>A (p.Asp1725Asn) rs201072457 0.00009
NM_030662.4(MAP2K2):c.1020C>T (p.Pro340=) rs192389729 0.00009
NM_032043.3(BRIP1):c.93+15G>A rs113052745 0.00009
NM_032861.4(SERAC1):c.487+19C>T rs372997779 0.00009
NM_052859.4(RFT1):c.924G>A (p.Leu308=) rs140603849 0.00009
NM_052989.3(IFT122):c.3570G>T (p.Leu1190=) rs146778076 0.00009
NM_058179.4(PSAT1):c.1074C>T (p.Ala358=) rs116103106 0.00009
NM_080632.3(UPF3B):c.1302+8T>C rs776786838 0.00009
NM_080632.3(UPF3B):c.470-19T>C rs779967826 0.00009
NM_133433.4(NIPBL):c.1151A>G (p.Asn384Ser) rs2291703 0.00009
NM_138959.3(VANGL1):c.1127A>G (p.Gln376Arg) rs200389969 0.00009
NM_147127.5(EVC2):c.2077G>A (p.Val693Ile) rs199824658 0.00009
NM_153427.2(PITX2):c.-1385+12T>C rs140614517 0.00009
NM_153490.3(KRT13):c.637C>T (p.Arg213Trp) rs78223890 0.00009
NM_153704.6(TMEM67):c.1511C>A (p.Ser504Tyr) rs114655330 0.00009
NM_173660.5(DOK7):c.1290G>A (p.Ala430=) rs538047872 0.00009
NM_174934.4(SCN4B):c.22G>A (p.Gly8Ser) rs149868494 0.00009
NM_181486.4(TBX5):c.1152G>A (p.Ala384=) rs200073406 0.00009
NM_198253.3(TERT):c.2001C>T (p.Tyr667=) rs758494245 0.00009
NM_198859.4(PRICKLE2):c.267T>C (p.Tyr89=) rs199642985 0.00009
NM_000020.3(ACVRL1):c.78G>A (p.Pro26=) rs774167132 0.00008
NM_000052.7(ATP7A):c.1030A>G (p.Arg344Gly) rs782196306 0.00008
NM_000052.7(ATP7A):c.1615C>A (p.Pro539Thr) rs781817601 0.00008
NM_000052.7(ATP7A):c.4364G>A (p.Arg1455Gln) rs147848649 0.00008
NM_000059.4(BRCA2):c.9501+3A>T rs61757642 0.00008
NM_000079.4(CHRNA1):c.723C>T (p.Pro241=) rs189442556 0.00008
NM_000088.4(COL1A1):c.3169G>A (p.Val1057Ile) rs575285203 0.00008
NM_000093.5(COL5A1):c.1495-11C>A rs199501759 0.00008
NM_000093.5(COL5A1):c.1507C>T (p.Arg503Cys) rs781485753 0.00008
NM_000093.5(COL5A1):c.3014C>T (p.Thr1005Met) rs201220311 0.00008
NM_000093.5(COL5A1):c.3110C>T (p.Thr1037Met) rs150487609 0.00008
NM_000093.5(COL5A1):c.4307C>T (p.Pro1436Leu) rs752334702 0.00008
NM_000093.5(COL5A1):c.5250G>A (p.Val1750=) rs200348547 0.00008
NM_000093.5(COL5A1):c.684G>A (p.Ser228=) rs139705205 0.00008
NM_000135.4(FANCA):c.2856G>C (p.Gln952His) rs200093209 0.00008
NM_000168.6(GLI3):c.363C>T (p.His121=) rs150295615 0.00008
NM_000202.8(IDS):c.1159G>A (p.Ala387Thr) rs376725292 0.00008
NM_000214.3(JAG1):c.3006C>T (p.Cys1002=) rs372984801 0.00008
NM_000264.5(PTCH1):c.181G>A (p.Ala61Thr) rs150069331 0.00008
NM_000264.5(PTCH1):c.2170G>A (p.Glu724Lys) rs144501989 0.00008
NM_000264.5(PTCH1):c.3792C>T (p.Phe1264=) rs144312968 0.00008
NM_000264.5(PTCH1):c.801G>A (p.Glu267=) rs374155092 0.00008
NM_000284.4(PDHA1):c.418+8G>A rs779583146 0.00008
NM_000284.4(PDHA1):c.708G>A (p.Ala236=) rs750307419 0.00008
NM_000284.4(PDHA1):c.870C>T (p.His290=) rs761411007 0.00008
NM_000368.5(TSC1):c.2965G>T (p.Ala989Ser) rs537585211 0.00008
NM_000489.6(ATRX):c.2530A>G (p.Thr844Ala) rs142601264 0.00008
NM_000489.6(ATRX):c.5221A>C (p.Arg1741=) rs782633224 0.00008
NM_000501.4(ELN):c.644-8C>T rs201859539 0.00008
NM_000528.4(MAN2B1):c.264C>A (p.Ile88=) rs199592101 0.00008
NM_000890.5(KCNJ5):c.738G>A (p.Glu246=) rs372736753 0.00008
NM_000891.3(KCNJ2):c.*1815G>A rs552577704 0.00008
NM_001005498.4(RHBDF2):c.171G>A (p.Leu57=) rs144977361 0.00008
NM_001018113.3(FANCB):c.127T>A (p.Leu43Ile) rs771007866 0.00008
NM_001018113.3(FANCB):c.330A>C (p.Leu110=) rs201633684 0.00008
NM_001018113.3(FANCB):c.362G>A (p.Arg121His) rs142289802 0.00008
NM_001042492.3(NF1):c.*541G>A rs563100361 0.00008
NM_001042492.3(NF1):c.6171A>T (p.Ile2057=) rs140733963 0.00008
NM_001114753.3(ENG):c.1135-7G>A rs201359896 0.00008
NM_001114753.3(ENG):c.634G>A (p.Val212Met) rs370652082 0.00008
NM_001114753.3(ENG):c.690-59C>A rs369047677 0.00008
NM_001122681.2(SH3BP2):c.1406+14C>A rs375493267 0.00008
NM_001148.6(ANK2):c.10983T>C (p.Ser3661=) rs544195596 0.00008
NM_001148.6(ANK2):c.3507T>C (p.Gly1169=) rs200262333 0.00008
NM_001271938.2(MEGF8):c.2919C>T (p.His973=) rs766105588 0.00008
NM_001271938.2(MEGF8):c.4743G>C (p.Met1581Ile) rs77422116 0.00008
NM_001282531.3(ADNP):c.2815A>C (p.Ile939Leu) rs201104498 0.00008
NM_001291415.2(KDM6A):c.444-7C>T rs375045349 0.00008
NM_001291867.2(NHS):c.4082C>T (p.Ser1361Leu) rs766379688 0.00008
NM_001379200.1(TBX1):c.1238C>G (p.Ala413Gly) rs557935727 0.00008
NM_001379200.1(TBX1):c.1424C>T (p.Ala475Val) rs753613632 0.00008
NM_001386795.1(DTNA):c.1002-2330A>G rs369005625 0.00008
NM_001386795.1(DTNA):c.1454G>C (p.Ser485Thr) rs190619495 0.00008
NM_001399.5(EDA):c.491A>C (p.Glu164Ala) rs397516663 0.00008
NM_001399.5(EDA):c.741+9G>A rs751258727 0.00008
NM_001429.4(EP300):c.2671A>C (p.Thr891Pro) rs200499648 0.00008
NM_001429.4(EP300):c.45G>A (p.Arg15=) rs752119517 0.00008
NM_001429.4(EP300):c.5346C>T (p.Cys1782=) rs747513510 0.00008
NM_001429.4(EP300):c.6729C>T (p.Gly2243=) rs765194008 0.00008
NM_001429.4(EP300):c.752A>G (p.Asn251Ser) rs142009367 0.00008
NM_001614.5(ACTG1):c.486G>A (p.Thr162=) rs782442814 0.00008
NM_001999.4(FBN2):c.3518C>G (p.Thr1173Ser) rs199678757 0.00008
NM_002076.4(GNS):c.193-9C>T rs372633889 0.00008
NM_002181.4(IHH):c.1222G>A (p.Gly408Arg) rs200216644 0.00008
NM_002272.4(KRT4):c.31G>A (p.Gly11Arg) rs371421345 0.00008
NM_002386.3(MC1R):c.-535G>A rs557576978 0.00008
NM_002397.5(MEF2C):c.363C>T (p.Asn121=) rs186648089 0.00008
NM_002449.5(MSX2):c.699G>A (p.Ala233=) rs201880865 0.00008
NM_002465.4(MYBPC1):c.178+7G>A rs376040468 0.00008
NM_002465.4(MYBPC1):c.17A>T (p.Lys6Met) rs201472372 0.00008
NM_002641.4(PIGA):c.1188G>A (p.Lys396=) rs754561270 0.00008
NM_002834.5(PTPN11):c.1599+33A>G rs727505380 0.00008
NM_003072.5(SMARCA4):c.1104G>A (p.Gln368=) rs751242644 0.00008
NM_003072.5(SMARCA4):c.4344C>T (p.Ala1448=) rs200087760 0.00008
NM_003118.4(SPARC):c.861C>T (p.Ala287=) rs143692773 0.00008
NM_003334.4(UBA1):c.1243G>A (p.Gly415Arg) rs373305404 0.00008
NM_003334.4(UBA1):c.2449G>A (p.Ala817Thr) rs371005753 0.00008
NM_003334.4(UBA1):c.679-16C>T rs200690232 0.00008
NM_003482.4(KMT2D):c.11401A>C (p.Met3801Leu) rs564097272 0.00008
NM_003482.4(KMT2D):c.4020+16C>T rs529101042 0.00008
NM_003482.4(KMT2D):c.6620C>T (p.Ala2207Val) rs747613578 0.00008
NM_003482.4(KMT2D):c.9474G>C (p.Gln3158His) rs770522446 0.00008
NM_004168.4(SDHA):c.1089C>T (p.His363=) rs368488126 0.00008
NM_004168.4(SDHA):c.155C>T (p.Ser52Phe) rs377470390 0.00008
NM_004208.4(AIFM1):c.968-14T>A rs201991839 0.00008
NM_004239.4(TRIP11):c.2016T>A (p.Ala672=) rs144317897 0.00008
NM_004239.4(TRIP11):c.492T>C (p.Phe164=) rs367632896 0.00008
NM_004260.4(RECQL4):c.1548G>A (p.Ala516=) rs377022089 0.00008
NM_004260.4(RECQL4):c.1625C>T (p.Ser542Phe) rs369852601 0.00008
NM_004260.4(RECQL4):c.171C>T (p.Gly57=) rs758179747 0.00008
NM_004304.5(ALK):c.1547-5C>T rs764739691 0.00008
NM_004333.6(BRAF):c.375T>G (p.Ser125=) rs201507202 0.00008
NM_004456.5(EZH2):c.1416T>C (p.Tyr472=) rs369851191 0.00008
NM_004959.5(NR5A1):c.942G>A (p.Gln314=) rs201103618 0.00008
NM_005027.4(PIK3R2):c.1217G>A (p.Arg406His) rs201531496 0.00008
NM_005045.4(RELN):c.697G>A (p.Ala233Thr) rs181961566 0.00008
NM_005045.4(RELN):c.9708C>T (p.Ser3236=) rs200370282 0.00008
NM_005236.3(ERCC4):c.2545C>G (p.Gln849Glu) rs374186605 0.00008
NM_005257.6(GATA6):c.1620+6T>C rs200795241 0.00008
NM_005629.4(SLC6A8):c.1155C>T (p.Ala385=) rs782477779 0.00008
NM_005629.4(SLC6A8):c.1497A>G (p.Gly499=) rs199640501 0.00008
NM_005629.4(SLC6A8):c.1810T>A (p.Leu604Met) rs1301772452 0.00008
NM_005633.4(SOS1):c.*4221C>T rs565544523 0.00008
NM_005660.3(SLC35A2):c.112A>C (p.Ile38Leu) rs782268788 0.00008
NM_005751.5(AKAP9):c.3066A>G (p.Gly1022=) rs372748115 0.00008
NM_006015.6(ARID1A):c.4751A>G (p.Gln1584Arg) rs558739370 0.00008
NM_006031.6(PCNT):c.8895G>A (p.Ala2965=) rs572222540 0.00008
NM_006147.4(IRF6):c.*1771A>G rs201184204 0.00008
NM_006265.3(RAD21):c.582G>A (p.Glu194=) rs201468757 0.00008
NM_006306.4(SMC1A):c.1923G>A (p.Leu641=) rs782123095 0.00008
NM_006329.4(FBLN5):c.1113G>A (p.Thr371=) rs560780691 0.00008
NM_007055.4(POLR3A):c.3351T>A (p.Ile1117=) rs199559258 0.00008
NM_007373.4(SHOC2):c.1161+9A>G rs201795589 0.00008
NM_013275.6(ANKRD11):c.2505C>T (p.Asp835=) rs544199816 0.00008
NM_013275.6(ANKRD11):c.2610C>T (p.Ser870=) rs142560514 0.00008
NM_014140.4(SMARCAL1):c.2649C>T (p.Tyr883=) rs182217350 0.00008
NM_014795.4(ZEB2):c.73+6A>C rs756924190 0.00008
NM_015335.5(MED13L):c.5890+11T>G rs138264591 0.00008
NM_015338.6(ASXL1):c.3427A>C (p.Ser1143Arg) rs752770575 0.00008
NM_015631.6(TCTN3):c.933G>T (p.Leu311=) rs371380545 0.00008
NM_016938.5(EFEMP2):c.848-16C>T rs773386551 0.00008
NM_017617.5(NOTCH1):c.147C>T (p.Gly49=) rs746002433 0.00008
NM_017617.5(NOTCH1):c.2295C>T (p.Gly765=) rs144066379 0.00008
NM_017617.5(NOTCH1):c.4373C>T (p.Ala1458Val) rs374352922 0.00008
NM_017617.5(NOTCH1):c.5193G>A (p.Pro1731=) rs773981674 0.00008
NM_017617.5(NOTCH1):c.6083-4G>A rs570242146 0.00008
NM_017617.5(NOTCH1):c.6714C>T (p.Pro2238=) rs201499253 0.00008
NM_017617.5(NOTCH1):c.7313C>T (p.Pro2438Leu) rs199777870 0.00008
NM_017780.4(CHD7):c.1324G>A (p.Ala442Thr) rs368086966 0.00008
NM_017780.4(CHD7):c.2194C>G (p.Pro732Ala) rs200277422 0.00008
NM_017780.4(CHD7):c.3778+17C>T rs111863846 0.00008
NM_017780.4(CHD7):c.5439C>T (p.Pro1813=) rs373869399 0.00008
NM_017780.4(CHD7):c.6112G>A (p.Asp2038Asn) rs747846723 0.00008
NM_017780.4(CHD7):c.676T>C (p.Phe226Leu) rs1294102203 0.00008
NM_017780.4(CHD7):c.8250T>G (p.Phe2750Leu) rs3750308 0.00008
NM_017946.4(FKBP14):c.246G>A (p.Leu82=) rs188844900 0.00008
NM_020639.3(RIPK4):c.1980C>T (p.Gly660=) rs144946647 0.00008
NM_020779.4(WDR35):c.867C>T (p.Tyr289=) rs185888517 0.00008
NM_020937.4(FANCM):c.4222+18dup rs760075544 0.00008
NM_020975.6(RET):c.1879+13C>T rs375573788 0.00008
NM_021625.5(TRPV4):c.1729G>A (p.Val577Met) rs140535889 0.00008
NM_022095.4(ZNF335):c.2500C>T (p.Pro834Ser) rs549937846 0.00008
NM_022458.4(LMBR1):c.474G>A (p.Ala158=) rs201832150 0.00008
NM_022725.4(FANCF):c.970A>G (p.Lys324Glu) rs200416138 0.00008
NM_023110.3(FGFR1):c.1888C>T (p.Leu630=) rs746123129 0.00008
NM_023110.3(FGFR1):c.297T>C (p.Tyr99=) rs552562422 0.00008
NM_024426.6(WT1):c.887+14G>A rs757237600 0.00008
NM_024757.5(EHMT1):c.1469G>A (p.Arg490Gln) rs756231112 0.00008
NM_024757.5(EHMT1):c.2340G>A (p.Ala780=) rs139463826 0.00008
NM_024757.5(EHMT1):c.268C>T (p.Arg90Trp) rs568424578 0.00008
NM_032444.4(SLX4):c.630A>G (p.Leu210=) rs746155183 0.00008
NM_080632.3(UPF3B):c.962T>C (p.Leu321Ser) rs775715153 0.00008
NM_133459.4(CCBE1):c.*2787T>C rs538634534 0.00008
NM_152383.5(DIS3L2):c.1680G>A (p.Leu560=) rs377644356 0.00008
NM_152594.3(SPRED1):c.587C>T (p.Thr196Ile) rs147474792 0.00008
NM_153717.3(EVC):c.1564-6C>T rs188245524 0.00008
NM_170707.4(LMNA):c.471G>A (p.Thr157=) rs150645079 0.00008
NM_198253.3(TERT):c.1392C>T (p.Phe464=) rs186596886 0.00008
NM_206937.2(LIG4):c.1473C>G (p.Pro491=) rs189319839 0.00008
NM_000027.4(AGA):c.622+20G>T rs200102826 0.00007
NM_000052.7(ATP7A):c.1941A>G (p.Ile647Met) rs781844108 0.00007
NM_000052.7(ATP7A):c.209G>A (p.Gly70Asp) rs782415705 0.00007
NM_000052.7(ATP7A):c.3565A>G (p.Ile1189Val) rs368917354 0.00007
NM_000052.7(ATP7A):c.4306G>A (p.Val1436Ile) rs781873881 0.00007
NM_000057.4(BLM):c.178T>A (p.Leu60Ile) rs138542210 0.00007
NM_000075.4(CDK4):c.776C>T (p.Ser259Leu) rs201617914 0.00007
NM_000079.4(CHRNA1):c.813G>A (p.Leu271=) rs374093236 0.00007
NM_000089.4(COL1A2):c.2025+9A>G rs368837694 0.00007
NM_000093.5(COL5A1):c.-4C>G rs769694875 0.00007
NM_000093.5(COL5A1):c.1149C>T (p.Thr383=) rs771885855 0.00007
NM_000093.5(COL5A1):c.3573A>G (p.Pro1191=) rs564398230 0.00007
NM_000093.5(COL5A1):c.4157C>T (p.Ser1386Leu) rs141605663 0.00007
NM_000093.5(COL5A1):c.4188C>T (p.Gly1396=) rs145363211 0.00007
NM_000093.5(COL5A1):c.467G>A (p.Arg156Gln) rs770896795 0.00007
NM_000093.5(COL5A1):c.4717A>G (p.Ile1573Val) rs373448943 0.00007
NM_000093.5(COL5A1):c.4748C>T (p.Thr1583Met) rs375076580 0.00007
NM_000093.5(COL5A1):c.5154C>T (p.Ala1718=) rs147434147 0.00007
NM_000093.5(COL5A1):c.65C>G (p.Pro22Arg) rs863223467 0.00007
NM_000093.5(COL5A1):c.754C>T (p.Pro252Ser) rs369781295 0.00007
NM_000093.5(COL5A1):c.934C>G (p.Pro312Ala) rs140105243 0.00007
NM_000095.3(COMP):c.924C>T (p.Ile308=) rs199596155 0.00007
NM_000135.4(FANCA):c.3420C>T (p.Asn1140=) rs369765552 0.00007
NM_000165.5(GJA1):c.-135C>T rs539558089 0.00007
NM_000168.6(GLI3):c.4524C>T (p.Ala1508=) rs201112421 0.00007
NM_000214.3(JAG1):c.1062C>T (p.Thr354=) rs201234509 0.00007
NM_000214.3(JAG1):c.2828C>T (p.Pro943Leu) rs767826365 0.00007
NM_000214.3(JAG1):c.3652G>A (p.Val1218Ile) rs150295026 0.00007
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu) rs199472864 0.00007
NM_000256.3(MYBPC3):c.1786G>A (p.Gly596Arg) rs199728019 0.00007
NM_000264.5(PTCH1):c.3963C>T (p.Asp1321=) rs139071993 0.00007
NM_000284.4(PDHA1):c.1113C>T (p.Ser371=) rs773338429 0.00007
NM_000284.4(PDHA1):c.217C>A (p.Arg73=) rs761538559 0.00007
NM_000287.4(PEX6):c.1680C>T (p.Pro560=) rs372998833 0.00007
NM_000316.3(PTH1R):c.1182C>T (p.Ala394=) rs151330461 0.00007
NM_000346.4(SOX9):c.480G>A (p.Arg160=) rs370267426 0.00007
NM_000489.6(ATRX):c.1245C>T (p.Ser415=) rs141815992 0.00007
NM_000489.6(ATRX):c.2118T>A (p.Ser706Arg) rs782598442 0.00007
NM_000489.6(ATRX):c.2806G>C (p.Val936Leu) rs149232501 0.00007
NM_000489.6(ATRX):c.3158C>A (p.Thr1053Asn) rs151273832 0.00007
NM_000489.6(ATRX):c.3913A>C (p.Lys1305Gln) rs782708557 0.00007
NM_000489.6(ATRX):c.4130A>G (p.Glu1377Gly) rs782553301 0.00007
NM_000493.4(COL10A1):c.158T>G (p.Ile53Arg) rs200692352 0.00007
NM_000501.4(ELN):c.133+11T>C rs28763980 0.00007
NM_000503.6(EYA1):c.1377T>A (p.Ala459=) rs112593082 0.00007
NM_000503.6(EYA1):c.890G>A (p.Arg297Gln) rs148647933 0.00007
NM_000719.7(CACNA1C):c.3200C>T (p.Ala1067Val) rs750998195 0.00007
NM_000719.7(CACNA1C):c.6213A>T (p.Ile2071=) rs778147251 0.00007
NM_000751.3(CHRND):c.620-8G>A rs377074477 0.00007
NM_000891.3(KCNJ2):c.277G>A (p.Val93Ile) rs147750704 0.00007
NM_001042492.3(NF1):c.1392+5G>T rs199999754 0.00007
NM_001077418.3(TMEM231):c.376C>T (p.Leu126=) rs557695110 0.00007
NM_001080508.3(TBX18):c.868G>A (p.Gly290Arg) rs200742037 0.00007
NM_001082538.3(TCTN1):c.1636-18T>G rs574360617 0.00007
NM_001130144.3(LTBP3):c.3519A>G (p.Gln1173=) rs538479771 0.00007
NM_001130144.3(LTBP3):c.3629-20T>C rs542733677 0.00007
NM_001148.6(ANK2):c.11470C>G (p.Pro3824Ala) rs747961230 0.00007
NM_001148.6(ANK2):c.11523G>A (p.Pro3841=) rs143290935 0.00007
NM_001148.6(ANK2):c.3224+7G>A rs376534098 0.00007
NM_001164508.2(NEB):c.2475C>T (p.Asp825=) rs180881237 0.00007
NM_001174147.2(LMX1B):c.*155G>A rs151191848 0.00007
NM_001276345.2(TNNT2):c.52+7G>A rs374443596 0.00007
NM_001291415.2(KDM6A):c.1812C>T (p.Ser604=) rs776420271 0.00007
NM_001291415.2(KDM6A):c.2799C>A (p.Ile933=) rs754951388 0.00007
NM_001291415.2(KDM6A):c.3162A>G (p.Thr1054=) rs754639174 0.00007
NM_001291415.2(KDM6A):c.655-16T>C rs570077971 0.00007
NM_001291867.2(NHS):c.1175G>A (p.Arg392Gln) rs372969054 0.00007
NM_001347721.2(DYRK1A):c.2224A>T (p.Thr742Ser) rs147973077 0.00007
NM_001354604.2(MITF):c.1381C>A (p.Leu461Ile) rs78962087 0.00007
NM_001367624.2(ZNF469):c.11244C>T (p.Ser3748=) rs936296523 0.00007
NM_001370259.2(MEN1):c.1692G>T (p.Leu564=) rs367581776 0.00007
NM_001374353.1(GLI2):c.3123C>T (p.Asp1041=) rs773098021 0.00007
NM_001378964.1(CDON):c.*911T>C rs369720108 0.00007
NM_001399.5(EDA):c.526+10T>G rs957016563 0.00007
NM_001429.4(EP300):c.6414G>A (p.Ala2138=) rs374679651 0.00007
NM_001614.5(ACTG1):c.364-10C>T rs200552253 0.00007
NM_001999.4(FBN2):c.2096-19G>A rs369377429 0.00007
NM_001999.4(FBN2):c.2480G>A (p.Arg827Gln) rs150735582 0.00007
NM_001999.4(FBN2):c.4298G>A (p.Arg1433His) rs143462011 0.00007
NM_001999.4(FBN2):c.5495G>A (p.Arg1832His) rs140276399 0.00007
NM_001999.4(FBN2):c.8351C>T (p.Pro2784Leu) rs144574441 0.00007
NM_001999.4(FBN2):c.8530G>A (p.Val2844Ile) rs147134796 0.00007
NM_002181.4(IHH):c.*13G>A rs534566881 0.00007
NM_002381.5(MATN3):c.354C>T (p.Ala118=) rs192462913 0.00007
NM_002465.4(MYBPC1):c.1651C>T (p.Leu551=) rs141026830 0.00007
NM_002465.4(MYBPC1):c.2271G>A (p.Thr757=) rs764196097 0.00007
NM_002470.4(MYH3):c.1703A>G (p.Lys568Arg) rs200780612 0.00007
NM_002524.5(NRAS):c.*740G>A rs372008962 0.00007
NM_002541.4(OGDH):c.3051C>T (p.Asp1017=) rs199595163 0.00007
NM_002641.4(PIGA):c.384T>C (p.His128=) rs750216116 0.00007
NM_002693.3(POLG):c.3559C>T (p.Arg1187Trp) rs369544574 0.00007
NM_003070.5(SMARCA2):c.1737G>A (p.Pro579=) rs371544356 0.00007
NM_003070.5(SMARCA2):c.1854C>T (p.Asp618=) rs140464170 0.00007
NM_003072.5(SMARCA4):c.3669C>T (p.Asn1223=) rs28997581 0.00007
NM_003334.4(UBA1):c.2368T>C (p.Phe790Leu) rs781842141 0.00007
NM_003334.4(UBA1):c.253G>A (p.Val85Met) rs782796398 0.00007
NM_003334.4(UBA1):c.720C>T (p.His240=) rs193168226 0.00007
NM_003482.4(KMT2D):c.10241A>G (p.Lys3414Arg) rs750178653 0.00007
NM_003482.4(KMT2D):c.1112+19C>T rs398123703 0.00007
NM_003482.4(KMT2D):c.12862C>T (p.Arg4288Trp) rs542331667 0.00007
NM_003482.4(KMT2D):c.15222C>T (p.Gly5074=) rs762896655 0.00007
NM_003482.4(KMT2D):c.5692G>A (p.Val1898Ile) rs374902745 0.00007
NM_003482.4(KMT2D):c.6319C>A (p.Pro2107Thr) rs201977719 0.00007
NM_003482.4(KMT2D):c.7829T>C (p.Leu2610Pro) rs200998047 0.00007
NM_003482.4(KMT2D):c.8156G>C (p.Ser2719Thr) rs199913341 0.00007
NM_003482.4(KMT2D):c.859A>G (p.Lys287Glu) rs375915416 0.00007
NM_003482.4(KMT2D):c.9709G>A (p.Glu3237Lys) rs886049479 0.00007
NM_003611.3(OFD1):c.1742G>A (p.Cys581Tyr) rs201230660 0.00007
NM_003611.3(OFD1):c.1876G>C (p.Glu626Gln) rs146930931 0.00007
NM_003611.3(OFD1):c.2260+15C>G rs768776950 0.00007
NM_004064.5(CDKN1B):c.234G>A (p.Glu78=) rs751794433 0.00007
NM_004208.4(AIFM1):c.134C>G (p.Pro45Arg) rs756361109 0.00007
NM_004260.4(RECQL4):c.2756-8G>T rs372723857 0.00007
NM_004260.4(RECQL4):c.3042C>T (p.His1014=) rs750400159 0.00007
NM_004304.5(ALK):c.4473G>A (p.Lys1491=) rs148987382 0.00007
NM_004370.6(COL12A1):c.4187G>A (p.Arg1396Gln) rs370549168 0.00007
NM_004560.4(ROR2):c.1448G>A (p.Arg483Gln) rs767474960 0.00007
NM_004560.4(ROR2):c.935G>A (p.Arg312His) rs188376581 0.00007
NM_004565.3(PEX14):c.1107C>T (p.Gly369=) rs781098256 0.00007
NM_005105.5(RBM8A):c.128-9C>T rs185927426 0.00007
NM_005413.4(SIX3):c.830C>A (p.Pro277Gln) rs575632344 0.00007
NM_005592.4(MUSK):c.1245G>C (p.Glu415Asp) rs558259191 0.00007
NM_005629.4(SLC6A8):c.1597-20C>T rs781894858 0.00007
NM_005751.5(AKAP9):c.492G>A (p.Leu164=) rs148852801 0.00007
NM_005921.2(MAP3K1):c.1131A>G (p.Arg377=) rs55818365 0.00007
NM_006015.6(ARID1A):c.268A>G (p.Ser90Gly) rs752026201 0.00007
NM_006121.4(KRT1):c.1035C>T (p.Leu345=) rs192365492 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.2691A>G (p.Lys897=) rs782574044 0.00007
NM_006306.4(SMC1A):c.3438-18C>T rs781873202 0.00007
NM_006796.2(AFG3L2):c.-151C>T rs554944971 0.00007
NM_006939.4(SOS2):c.2707G>A (p.Val903Met) rs745788940 0.00007
NM_012330.4(KAT6B):c.4478C>T (p.Ala1493Val) rs369068910 0.00007
NM_013275.6(ANKRD11):c.4382A>G (p.Lys1461Arg) rs769926682 0.00007
NM_014244.5(ADAMTS2):c.260G>T (p.Arg87Leu) rs150047440 0.00007
NM_014795.4(ZEB2):c.297C>T (p.Asn99=) rs147603619 0.00007
NM_014795.4(ZEB2):c.3285G>A (p.Ala1095=) rs201630448 0.00007
NM_015443.4(KANSL1):c.2441C>G (p.Thr814Ser) rs757031050 0.00007
NM_015443.4(KANSL1):c.2755G>A (p.Ala919Thr) rs776547113 0.00007
NM_015631.6(TCTN3):c.1278A>G (p.Ala426=) rs184805842 0.00007
NM_015681.6(B9D1):c.597C>G (p.Pro199=) rs753785719 0.00007
NM_017617.5(NOTCH1):c.1682C>T (p.Thr561Met) rs560030759 0.00007
NM_017617.5(NOTCH1):c.2192G>A (p.Arg731Gln) rs587778558 0.00007
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) rs756972680 0.00007
NM_017617.5(NOTCH1):c.4307C>T (p.Ala1436Val) rs371303106 0.00007
NM_017617.5(NOTCH1):c.4795G>A (p.Val1599Met) rs543770603 0.00007
NM_017617.5(NOTCH1):c.4809C>T (p.Asn1603=) rs370523171 0.00007
NM_017617.5(NOTCH1):c.4927G>A (p.Ala1643Thr) rs566680728 0.00007
NM_017617.5(NOTCH1):c.6283C>T (p.Arg2095Cys) rs780873661 0.00007
NM_017617.5(NOTCH1):c.6583G>A (p.Gly2195Ser) rs376422513 0.00007
NM_017617.5(NOTCH1):c.7397C>T (p.Thr2466Met) rs369167555 0.00007
NM_017780.4(CHD7):c.1672C>G (p.Pro558Ala) rs746837682 0.00007
NM_017780.4(CHD7):c.331C>T (p.Pro111Ser) rs147164392 0.00007
NM_017780.4(CHD7):c.7481C>T (p.Thr2494Ile) rs201514840 0.00007
NM_017780.4(CHD7):c.805G>A (p.Val269Ile) rs747972265 0.00007
NM_017780.4(CHD7):c.8692A>G (p.Met2898Val) rs755028719 0.00007
NM_018026.4(PACS1):c.1993+18C>T rs543655686 0.00007
NM_018026.4(PACS1):c.2454C>T (p.Asp818=) rs142615271 0.00007
NM_018055.5(NODAL):c.816C>T (p.Asn272=) rs774058854 0.00007
NM_018486.3(HDAC8):c.169G>A (p.Val57Ile) rs200737947 0.00007
NM_020436.5(SALL4):c.696C>T (p.Thr232=) rs376488018 0.00007
NM_020975.6(RET):c.*1326T>C rs141016377 0.00007
NM_021625.5(TRPV4):c.2517C>T (p.Asp839=) rs546957932 0.00007
NM_022114.4(PRDM16):c.884+9C>A rs372395047 0.00007
NM_022168.4(IFIH1):c.1853G>A (p.Arg618Gln) rs200017837 0.00007
NM_022356.4(P3H1):c.1626G>A (p.Thr542=) rs577059613 0.00007
NM_022455.5(NSD1):c.3089T>C (p.Leu1030Ser) rs200856103 0.00007
NM_022458.4(LMBR1):c.*2297C>T rs367713862 0.00007
NM_023110.3(FGFR1):c.*2434C>T rs565758830 0.00007
NM_023110.3(FGFR1):c.359-13C>G rs376369060 0.00007
NM_024009.3(GJB3):c.340G>A (p.Ala114Thr) rs199689484 0.00007
NM_024426.6(WT1):c.1017-9T>C rs368486676 0.00007
NM_024426.6(WT1):c.1020C>T (p.His340=) rs375114529 0.00007
NM_024757.5(EHMT1):c.1148C>T (p.Ser383Leu) rs771654748 0.00007
NM_024757.5(EHMT1):c.1636G>A (p.Val546Met) rs755711930 0.00007
NM_025114.4(CEP290):c.343A>G (p.Asn115Asp) rs140236736 0.00007
NM_025114.4(CEP290):c.4695A>G (p.Lys1565=) rs189871589 0.00007
NM_032444.4(SLX4):c.2034T>G (p.Val678=) rs200278096 0.00007
NM_032444.4(SLX4):c.3762G>A (p.Ser1254=) rs3810814 0.00007
NM_052989.3(IFT122):c.2375+13C>T rs749785449 0.00007
NM_080632.3(UPF3B):c.1101G>C (p.Lys367Asn) rs199727706 0.00007
NM_145068.4(TRPV3):c.2078G>A (p.Arg693His) rs201062148 0.00007
NM_152383.5(DIS3L2):c.2067C>T (p.Tyr689=) rs186340144 0.00007
NM_152564.5(VPS13B):c.1303-4A>G rs772842729 0.00007
NM_181486.4(TBX5):c.1545C>T (p.Ser515=) rs186780790 0.00007
NM_194318.4(B3GLCT):c.315A>G (p.Glu105=) rs200376294 0.00007
NM_198525.3(KIF7):c.1177G>T (p.Gly393Cys) rs553968087 0.00007
NM_000020.3(ACVRL1):c.759C>T (p.His253=) rs374020751 0.00006
NM_000052.7(ATP7A):c.2892T>C (p.Phe964=) rs781832055 0.00006
NM_000052.7(ATP7A):c.493A>G (p.Met165Val) rs782097214 0.00006
NM_000057.4(BLM):c.1044G>A (p.Met348Ile) rs184657475 0.00006
NM_000057.4(BLM):c.114A>G (p.Lys38=) rs770017301 0.00006
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226 0.00006
NM_000057.4(BLM):c.3062A>G (p.Asn1021Ser) rs369629509 0.00006
NM_000075.4(CDK4):c.702A>C (p.Pro234=) rs368081942 0.00006
NM_000088.4(COL1A1):c.2167G>A (p.Ala723Thr) rs150803124 0.00006
NM_000088.4(COL1A1):c.3580G>A (p.Ala1194Thr) rs769571473 0.00006
NM_000088.4(COL1A1):c.3766G>A (p.Ala1256Thr) rs148216434 0.00006
NM_000088.4(COL1A1):c.3779G>A (p.Arg1260His) rs774001209 0.00006
NM_000088.4(COL1A1):c.3978C>T (p.Phe1326=) rs200145743 0.00006
NM_000089.4(COL1A2):c.1825C>A (p.Arg609=) rs765398195 0.00006
NM_000089.4(COL1A2):c.2826C>T (p.Pro942=) rs199580542 0.00006
NM_000089.4(COL1A2):c.2967T>C (p.Pro989=) rs201760437 0.00006
NM_000089.4(COL1A2):c.671G>A (p.Arg224His) rs771139732 0.00006
NM_000090.4(COL3A1):c.1150-13T>C rs201839712 0.00006
NM_000090.4(COL3A1):c.1995C>T (p.Ala665=) rs149093989 0.00006
NM_000090.4(COL3A1):c.217G>C (p.Asp73His) rs200246388 0.00006
NM_000090.4(COL3A1):c.3061C>A (p.Leu1021Ile) rs139619440 0.00006
NM_000090.4(COL3A1):c.3390C>T (p.Ile1130=) rs148918486 0.00006
NM_000090.4(COL3A1):c.898-5T>C rs535434618 0.00006
NM_000093.5(COL5A1):c.*2090C>T rs578207933 0.00006
NM_000093.5(COL5A1):c.2114C>T (p.Pro705Leu) rs375456811 0.00006
NM_000093.5(COL5A1):c.2281C>T (p.Pro761Ser) rs140486644 0.00006
NM_000093.5(COL5A1):c.2424C>T (p.Gly808=) rs139343205 0.00006
NM_000093.5(COL5A1):c.2983C>A (p.Pro995Thr) rs187022757 0.00006
NM_000093.5(COL5A1):c.3024G>A (p.Thr1008=) rs767002656 0.00006
NM_000093.5(COL5A1):c.3906+14C>T rs377136680 0.00006
NM_000093.5(COL5A1):c.3939G>T (p.Glu1313Asp) rs886063676 0.00006
NM_000093.5(COL5A1):c.4231-9G>A rs570545638 0.00006
NM_000093.5(COL5A1):c.4892C>T (p.Thr1631Met) rs764446683 0.00006
NM_000093.5(COL5A1):c.5348G>A (p.Arg1783His) rs777045810 0.00006
NM_000093.5(COL5A1):c.761C>T (p.Ser254Leu) rs144844792 0.00006
NM_000093.5(COL5A1):c.791C>T (p.Thr264Met) rs148548209 0.00006
NM_000093.5(COL5A1):c.805G>A (p.Glu269Lys) rs761079177 0.00006
NM_000093.5(COL5A1):c.936G>A (p.Pro312=) rs150364815 0.00006
NM_000135.4(FANCA):c.2292G>A (p.Arg764=) rs56267906 0.00006
NM_000135.4(FANCA):c.3066+16C>T rs199529426 0.00006
NM_000135.4(FANCA):c.4226G>A (p.Arg1409Gln) rs370507983 0.00006
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys) rs201658945 0.00006
NM_000138.5(FBN1):c.4211-10C>T rs28730793 0.00006
NM_000138.5(FBN1):c.8071G>A (p.Gly2691Ser) rs145105768 0.00006
NM_000138.5(FBN1):c.8310C>T (p.His2770=) rs112189340 0.00006
NM_000141.5(FGFR2):c.1548G>A (p.Val516=) rs200522893 0.00006
NM_000168.6(GLI3):c.1800G>A (p.Thr600=) rs138445547 0.00006
NM_000168.6(GLI3):c.1992G>A (p.Ser664=) rs770030848 0.00006
NM_000168.6(GLI3):c.3894G>A (p.Pro1298=) rs530418832 0.00006
NM_000168.6(GLI3):c.748C>T (p.Pro250Ser) rs202039538 0.00006
NM_000181.4(GUSB):c.678C>T (p.Thr226=) rs537957979 0.00006
NM_000202.8(IDS):c.27C>T (p.Gly9=) rs782412902 0.00006
NM_000202.8(IDS):c.753C>T (p.Pro251=) rs782051908 0.00006
NM_000202.8(IDS):c.937C>T (p.Arg313Cys) rs201048643 0.00006
NM_000203.5(IDUA):c.1773G>A (p.Ala591=) rs148894462 0.00006
NM_000214.3(JAG1):c.316A>G (p.Thr106Ala) rs909905245 0.00006
NM_000214.3(JAG1):c.3583A>G (p.Asn1195Asp) rs397515876 0.00006
NM_000214.3(JAG1):c.5G>T (p.Arg2Leu) rs1026004197 0.00006
NM_000218.3(KCNQ1):c.1514+7G>T rs372593469 0.00006
NM_000233.4(LHCGR):c.681-6G>A rs575168674 0.00006
NM_000238.4(KCNH2):c.2127C>T (p.Asn709=) rs768572372 0.00006
NM_000238.4(KCNH2):c.3112G>A (p.Val1038Met) rs199473544 0.00006
NM_000238.4(KCNH2):c.3216G>A (p.Thr1072=) rs200182770 0.00006
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965 0.00006
NM_000256.3(MYBPC3):c.1720C>A (p.Arg574=) rs61897383 0.00006
NM_000264.5(PTCH1):c.146A>G (p.Tyr49Cys) rs774156512 0.00006
NM_000264.5(PTCH1):c.2074G>A (p.Val692Met) rs758487789 0.00006
NM_000264.5(PTCH1):c.2689A>G (p.Ile897Val) rs758483793 0.00006
NM_000264.5(PTCH1):c.2692G>A (p.Asp898Asn) rs531947455 0.00006
NM_000264.5(PTCH1):c.3449+11G>A rs568528640 0.00006
NM_000264.5(PTCH1):c.3648C>T (p.Ser1216=) rs377608291 0.00006
NM_000264.5(PTCH1):c.946-13C>T rs200749389 0.00006
NM_000280.4(PAX6):c.*3318A>G rs371438311 0.00006
NM_000302.4(PLOD1):c.936C>T (p.His312=) rs374787907 0.00006
NM_000314.8(PTEN):c.720C>T (p.Tyr240=) rs190070312 0.00006
NM_000368.5(TSC1):c.*2168C>T rs532469694 0.00006
NM_000393.5(COL5A2):c.1716+9A>G rs201934598 0.00006
NM_000393.5(COL5A2):c.2852G>A (p.Gly951Glu) rs772448543 0.00006
NM_000393.5(COL5A2):c.389G>A (p.Arg130His) rs377331666 0.00006
NM_000393.5(COL5A2):c.4114-11T>C rs587780908 0.00006
NM_000393.5(COL5A2):c.437G>A (p.Arg146Gln) rs144430633 0.00006
NM_000393.5(COL5A2):c.567+17G>T rs780672109 0.00006
NM_000478.6(ALPL):c.858A>G (p.Leu286=) rs375027534 0.00006
NM_000489.6(ATRX):c.1033G>A (p.Ala345Thr) rs149249195 0.00006
NM_000489.6(ATRX):c.12G>A (p.Glu4=) rs782765957 0.00006
NM_000489.6(ATRX):c.2000C>T (p.Pro667Leu) rs61752457 0.00006
NM_000489.6(ATRX):c.2312C>T (p.Ala771Val) rs376906761 0.00006
NM_000489.6(ATRX):c.2313G>A (p.Ala771=) rs373458498 0.00006
NM_000489.6(ATRX):c.2397G>C (p.Lys799Asn) rs782253706 0.00006
NM_000489.6(ATRX):c.3218G>C (p.Ser1073Thr) rs781825074 0.00006
NM_000489.6(ATRX):c.3504G>C (p.Lys1168Asn) rs782512381 0.00006
NM_000489.6(ATRX):c.370+8G>A rs782746673 0.00006
NM_000489.6(ATRX):c.3972A>G (p.Ser1324=) rs782638271 0.00006
NM_000489.6(ATRX):c.4224G>A (p.Lys1408=) rs781984385 0.00006
NM_000489.6(ATRX):c.485-18G>A rs782461396 0.00006
NM_000489.6(ATRX):c.5001C>T (p.Tyr1667=) rs202114901 0.00006
NM_000501.4(ELN):c.1234G>A (p.Gly412Arg) rs375116795 0.00006
NM_000501.4(ELN):c.886G>A (p.Ala296Thr) rs782335529 0.00006
NM_000512.5(GALNS):c.887C>T (p.Ala296Val) rs200371805 0.00006
NM_000512.5(GALNS):c.921G>T (p.Leu307=) rs201986622 0.00006
NM_000514.4(GDNF):c.*1898C>A rs547628776 0.00006
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg) rs754733253 0.00006
NM_000553.6(WRN):c.2630+11T>A rs202013204 0.00006
NM_000719.7(CACNA1C):c.371+16C>T rs377534958 0.00006
NM_000719.7(CACNA1C):c.6342G>A (p.Ala2114=) rs368073321 0.00006
NM_000751.3(CHRND):c.1477G>A (p.Val493Ile) rs567130034 0.00006
NM_000890.5(KCNJ5):c.53C>T (p.Thr18Ile) rs375669366 0.00006
NM_001001433.3(STX16):c.-25A>C rs368579447 0.00006
NM_001005498.4(RHBDF2):c.2365G>A (p.Ala789Thr) rs770206566 0.00006
NM_001018113.3(FANCB):c.2265A>G (p.Leu755=) rs777812135 0.00006
NM_001042492.3(NF1):c.6033A>G (p.Leu2011=) rs147995863 0.00006
NM_001042492.3(NF1):c.7870-8C>A rs372441422 0.00006
NM_001042492.3(NF1):c.8395G>A (p.Val2799Ile) rs377393842 0.00006
NM_001082538.3(TCTN1):c.880C>T (p.Leu294=) rs371899538 0.00006
NM_001083962.2(TCF4):c.1704G>A (p.Glu568=) rs144068462 0.00006
NM_001102564.3(IFT43):c.55-17T>C rs200685248 0.00006
NM_001113378.2(FANCI):c.288+10C>T rs370505986 0.00006
NM_001114753.3(ENG):c.1695T>C (p.His565=) rs750637713 0.00006
NM_001122681.2(SH3BP2):c.97C>T (p.Leu33=) rs774809755 0.00006
NM_001134831.2(AHI1):c.1680A>G (p.Pro560=) rs200949030 0.00006
NM_001148.6(ANK2):c.1135C>T (p.Arg379Cys) rs143043717 0.00006
NM_001148.6(ANK2):c.11628A>G (p.Glu3876=) rs376376716 0.00006
NM_001148.6(ANK2):c.2679A>G (p.Gly893=) rs766183219 0.00006
NM_001148.6(ANK2):c.3400C>T (p.Leu1134=) rs188812120 0.00006
NM_001148.6(ANK2):c.6143A>G (p.Gln2048Arg) rs201628725 0.00006
NM_001148.6(ANK2):c.7932G>A (p.Glu2644=) rs201645638 0.00006
NM_001148.6(ANK2):c.8484T>C (p.Asp2828=) rs371140760 0.00006
NM_001173990.3(TMEM216):c.358A>G (p.Met120Val) rs200289511 0.00006
NM_001276345.2(TNNT2):c.114G>A (p.Ala38=) rs200283086 0.00006
NM_001276345.2(TNNT2):c.295-14C>T rs747477576 0.00006
NM_001291415.2(KDM6A):c.1948A>G (p.Ile650Val) rs762004743 0.00006
NM_001291415.2(KDM6A):c.2346A>G (p.Thr782=) rs746903785 0.00006
NM_001291415.2(KDM6A):c.2961G>A (p.Lys987=) rs144564697 0.00006
NM_001291867.2(NHS):c.2204G>A (p.Arg735His) rs193921046 0.00006
NM_001308093.3(GATA4):c.1329G>A (p.Ala443=) rs745735974 0.00006
NM_001330078.2(NRXN1):c.1833T>C (p.Asp611=) rs190377845 0.00006
NM_001330078.2(NRXN1):c.2730G>A (p.Lys910=) rs192909520 0.00006
NM_001347721.2(DYRK1A):c.1762G>A (p.Ala588Thr) rs200808105 0.00006
NM_001347721.2(DYRK1A):c.2144C>G (p.Ala715Gly) rs143498500 0.00006
NM_001347721.2(DYRK1A):c.925-8T>C rs199804785 0.00006
NM_001365902.3(NFIX):c.1078+19C>T rs377622313 0.00006
NM_001368809.2(AMPD2):c.2158-9C>A rs756915998 0.00006
NM_001370259.2(MEN1):c.1003C>A (p.Arg335=) rs371364206 0.00006
NM_001370259.2(MEN1):c.1764G>A (p.Lys588=) rs373669288 0.00006
NM_001371623.1(TCOF1):c.1083+12G>A rs571858502 0.00006
NM_001371623.1(TCOF1):c.4182C>T (p.Asp1394=) rs200273817 0.00006
NM_001374353.1(GLI2):c.315G>A (p.Pro105=) rs139473153 0.00006
NM_001374353.1(GLI2):c.4208C>G (p.Ala1403Gly) rs370136073 0.00006
NM_001374828.1(ARID1B):c.4674G>A (p.Pro1558=) rs566865279 0.00006
NM_001377299.1(NDUFS2):c.95+9G>C rs377100925 0.00006
NM_001399.5(EDA):c.1070G>A (p.Arg357Gln) rs61747506 0.00006
NM_001429.4(EP300):c.1540A>G (p.Met514Val) rs765266179 0.00006
NM_001429.4(EP300):c.2405C>T (p.Pro802Leu) rs749702423 0.00006
NM_001429.4(EP300):c.3750C>T (p.Cys1250=) rs747187417 0.00006
NM_001429.4(EP300):c.5644A>G (p.Ser1882Gly) rs769796204 0.00006
NM_001429.4(EP300):c.7114A>G (p.Met2372Val) rs768061933 0.00006
NM_001614.5(ACTG1):c.165C>T (p.Gly55=) rs146402466 0.00006
NM_001614.5(ACTG1):c.363+7C>G rs782205549 0.00006
NM_001814.6(CTSC):c.948G>C (p.Leu316=) rs145373075 0.00006
NM_001999.4(FBN2):c.-122G>T rs557716482 0.00006
NM_001999.4(FBN2):c.1411G>A (p.Val471Ile) rs138046782 0.00006
NM_001999.4(FBN2):c.1644T>G (p.Asp548Glu) rs182651973 0.00006
NM_001999.4(FBN2):c.1682A>G (p.His561Arg) rs28763951 0.00006
NM_001999.4(FBN2):c.2978G>A (p.Arg993His) rs774483323 0.00006
NM_001999.4(FBN2):c.3405G>A (p.Pro1135=) rs185809581 0.00006
NM_001999.4(FBN2):c.6573C>T (p.Asp2191=) rs374456115 0.00006
NM_001999.4(FBN2):c.6833C>A (p.Thr2278Lys) rs2307109 0.00006
NM_001999.4(FBN2):c.6982G>T (p.Ala2328Ser) rs199910288 0.00006
NM_001999.4(FBN2):c.7690C>G (p.Gln2564Glu) rs373970388 0.00006
NM_001999.4(FBN2):c.8058C>A (p.Phe2686Leu) rs150734807 0.00006
NM_001999.4(FBN2):c.8520C>T (p.Asn2840=) rs139098335 0.00006
NM_002076.4(GNS):c.876-13T>C rs543570530 0.00006
NM_002272.4(KRT4):c.-51G>A rs531951809 0.00006
NM_002296.4(LBR):c.959A>G (p.His320Arg) rs201654506 0.00006
NM_002449.5(MSX2):c.*1206T>C rs77229212 0.00006
NM_002470.4(MYH3):c.3039T>C (p.Ala1013=) rs142131471 0.00006
NM_002470.4(MYH3):c.3462G>A (p.Ala1154=) rs201553125 0.00006
NM_002470.4(MYH3):c.5660A>G (p.Asp1887Gly) rs147304568 0.00006
NM_002541.4(OGDH):c.1422C>T (p.His474=) rs79522383 0.00006
NM_002618.4(PEX13):c.913+19G>A rs189410109 0.00006
NM_002693.3(POLG):c.1743C>T (p.Asp581=) rs140743000 0.00006
NM_002693.3(POLG):c.3405C>T (p.Asp1135=) rs2307445 0.00006
NM_003001.5(SDHC):c.179+10G>A rs532455044 0.00006
NM_003052.5(SLC34A1):c.604G>A (p.Val202Met) rs146919762 0.00006
NM_003072.5(SMARCA4):c.761-5T>C rs543702763 0.00006
NM_003073.5(SMARCB1):c.-17C>T rs372777519 0.00006
NM_003334.4(UBA1):c.2929G>A (p.Asp977Asn) rs200629777 0.00006
NM_003334.4(UBA1):c.351C>T (p.Tyr117=) rs782799228 0.00006
NM_003482.4(KMT2D):c.10179G>A (p.Pro3393=) rs368612015 0.00006
NM_003482.4(KMT2D):c.11174A>C (p.Gln3725Pro) rs377044162 0.00006
NM_003482.4(KMT2D):c.11347C>G (p.Gln3783Glu) rs752477959 0.00006
NM_003482.4(KMT2D):c.11550C>T (p.His3850=) rs958585817 0.00006
NM_003482.4(KMT2D):c.11957C>G (p.Ser3986Cys) rs768668663 0.00006
NM_003482.4(KMT2D):c.1305C>T (p.Asn435=) rs1296595611 0.00006
NM_003482.4(KMT2D):c.13103C>A (p.Thr4368Asn) rs200789125 0.00006
NM_003482.4(KMT2D):c.13157C>T (p.Thr4386Ile) rs778416089 0.00006
NM_003482.4(KMT2D):c.13633G>T (p.Val4545Phe) rs753655111 0.00006
NM_003482.4(KMT2D):c.13798C>T (p.Leu4600=) rs759415551 0.00006
NM_003482.4(KMT2D):c.14893G>A (p.Ala4965Thr) rs200747934 0.00006
NM_003482.4(KMT2D):c.15200C>T (p.Thr5067Met) rs767962124 0.00006
NM_003482.4(KMT2D):c.15686G>A (p.Arg5229His) rs201628357 0.00006
NM_003482.4(KMT2D):c.1939C>A (p.Pro647Thr) rs200106242 0.00006
NM_003482.4(KMT2D):c.2135A>G (p.Glu712Gly) rs574957455 0.00006
NM_003482.4(KMT2D):c.2236C>T (p.Arg746Trp) rs201896284 0.00006
NM_003482.4(KMT2D):c.3134C>T (p.Pro1045Leu) rs376896214 0.00006
NM_003482.4(KMT2D):c.3298G>C (p.Asp1100His) rs745673119 0.00006
NM_003482.4(KMT2D):c.4986C>T (p.Cys1662=) rs143063879 0.00006
NM_003482.4(KMT2D):c.5386C>T (p.Arg1796Trp) rs186948725 0.00006
NM_003482.4(KMT2D):c.5503C>T (p.Arg1835Cys) rs371685892 0.00006
NM_003482.4(KMT2D):c.5921C>T (p.Thr1974Met) rs777415982 0.00006
NM_003482.4(KMT2D):c.7031G>A (p.Gly2344Asp) rs199845251 0.00006
NM_003482.4(KMT2D):c.7499C>T (p.Ala2500Val) rs369604891 0.00006
NM_003482.4(KMT2D):c.8260A>G (p.Ser2754Gly) rs374075728 0.00006
NM_003482.4(KMT2D):c.8907G>A (p.Ser2969=) rs774595668 0.00006
NM_003611.3(OFD1):c.1930C>T (p.Arg644Cys) rs185831378 0.00006
NM_003611.3(OFD1):c.2992G>A (p.Glu998Lys) rs772233258 0.00006
NM_003611.3(OFD1):c.451C>T (p.His151Tyr) rs137993158 0.00006
NM_003722.5(TP63):c.*379T>A rs192879052 0.00006
NM_003722.5(TP63):c.387G>A (p.Ser129=) rs151335217 0.00006
NM_003738.5(PTCH2):c.2248G>A (p.Ala750Thr) rs529700882 0.00006
NM_003924.4(PHOX2B):c.*550G>A rs577950819 0.00006
NM_004064.5(CDKN1B):c.258G>A (p.Glu86=) rs142940486 0.00006
NM_004153.4(ORC1):c.1745A>G (p.Gln582Arg) rs547441862 0.00006
NM_004208.4(AIFM1):c.1633C>T (p.Pro545Ser) rs139322490 0.00006
NM_004260.4(RECQL4):c.2634C>A (p.Pro878=) rs769166199 0.00006
NM_004260.4(RECQL4):c.444C>T (p.Val148=) rs559167672 0.00006
NM_004304.5(ALK):c.2011C>T (p.Pro671Ser) rs145780832 0.00006
NM_004380.3(CREBBP):c.5361C>T (p.Asn1787=) rs375462934 0.00006
NM_004380.3(CREBBP):c.5973G>A (p.Pro1991=) rs539366777 0.00006
NM_004393.6(DAG1):c.927C>T (p.Arg309=) rs551679833 0.00006
NM_004415.4(DSP):c.4320G>A (p.Val1440=) rs571103583 0.00006
NM_004456.5(EZH2):c.1719C>A (p.Thr573=) rs186989444 0.00006
NM_004456.5(EZH2):c.972T>G (p.Pro324=) rs574201179 0.00006
NM_004484.4(GPC3):c.358C>T (p.Arg120Cys) rs587778392 0.00006
NM_004560.4(ROR2):c.1756G>A (p.Ala586Thr) rs142386294 0.00006
NM_004560.4(ROR2):c.2034C>T (p.Tyr678=) rs199681534 0.00006
NM_004560.4(ROR2):c.2212C>T (p.Arg738Cys) rs56231927 0.00006
NM_004560.4(ROR2):c.760G>A (p.Asp254Asn) rs374492597 0.00006
NM_005045.4(RELN):c.10357C>T (p.Arg3453Ter) rs139326865 0.00006
NM_005045.4(RELN):c.4937-18del rs757860282 0.00006
NM_005055.5(RAPSN):c.690+10C>T rs78293924 0.00006
NM_005219.5(DIAPH1):c.1659G>A (p.Lys553=) rs200506473 0.00006
NM_005236.3(ERCC4):c.389-5C>T rs377224276 0.00006
NM_005343.4(HRAS):c.369C>T (p.Arg123=) rs200945755 0.00006
NM_005360.5(MAF):c.1028C>T (p.Ala343Val) rs201126542 0.00006
NM_005629.4(SLC6A8):c.1113C>T (p.Gly371=) rs1411836045 0.00006
NM_005629.4(SLC6A8):c.1254+6C>T rs782764159 0.00006
NM_005629.4(SLC6A8):c.1496-17G>A rs375265267 0.00006
NM_005629.4(SLC6A8):c.831G>A (p.Val277=) rs149357346 0.00006
NM_005633.4(SOS1):c.*1516G>A rs550823381 0.00006
NM_005633.4(SOS1):c.1018C>T (p.Pro340Ser) rs190222208 0.00006
NM_005660.3(SLC35A2):c.1039G>A (p.Ala347Thr) rs781948153 0.00006
NM_005660.3(SLC35A2):c.92-11G>A rs368406784 0.00006
NM_005751.5(AKAP9):c.1575T>C (p.Ala525=) rs374455304 0.00006
NM_005751.5(AKAP9):c.2477T>C (p.Ile826Thr) rs534185372 0.00006
NM_005751.5(AKAP9):c.7221A>G (p.Glu2407=) rs779280501 0.00006
NM_005921.2(MAP3K1):c.304G>A (p.Gly102Arg) rs531377824 0.00006
NM_005996.4(TBX3):c.1671C>G (p.Thr557=) rs548288032 0.00006
NM_006015.6(ARID1A):c.2123A>C (p.Gln708Pro) rs367889013 0.00006
NM_006306.4(SMC1A):c.2034G>A (p.Lys678=) rs782008528 0.00006
NM_006567.5(FARS2):c.288C>T (p.His96=) rs201410497 0.00006
NM_006567.5(FARS2):c.819T>A (p.Pro273=) rs201042275 0.00006
NM_006767.4(LZTR1):c.21G>A (p.Thr7=) rs377622689 0.00006
NM_006912.6(RIT1):c.106+15C>T rs755316223 0.00006
NM_006939.4(SOS2):c.2605G>A (p.Val869Ile) rs373143128 0.00006
NM_006939.4(SOS2):c.2700C>T (p.Asp900=) rs369410641 0.00006
NM_006939.4(SOS2):c.2959-16A>G rs147830734 0.00006
NM_006939.4(SOS2):c.36C>T (p.Ser12=) rs377290612 0.00006
NM_006939.4(SOS2):c.720C>T (p.Ile240=) rs373852615 0.00006
NM_006941.4(SOX10):c.*27G>A rs563902004 0.00006
NM_007373.4(SHOC2):c.1239G>T (p.Gln413His) rs200215822 0.00006
NM_007373.4(SHOC2):c.610A>G (p.Ile204Val) rs200015085 0.00006
NM_012330.4(KAT6B):c.3697G>A (p.Glu1233Lys) rs371178186 0.00006
NM_012414.4(RAB3GAP2):c.1709A>G (p.Asn570Ser) rs143286302 0.00006
NM_013275.6(ANKRD11):c.-18C>T rs373447058 0.00006
NM_013275.6(ANKRD11):c.192G>A (p.Ala64=) rs200665093 0.00006
NM_013275.6(ANKRD11):c.477T>C (p.Asp159=) rs201813034 0.00006
NM_013275.6(ANKRD11):c.5586C>T (p.Val1862=) rs772818159 0.00006
NM_014321.4(ORC6):c.*217C>T rs143138864 0.00006
NM_014423.4(AFF4):c.3321C>T (p.Thr1107=) rs745754457 0.00006
NM_014795.4(ZEB2):c.1221C>T (p.His407=) rs144613207 0.00006
NM_014795.4(ZEB2):c.2361T>C (p.Asn787=) rs201567433 0.00006
NM_015272.5(RPGRIP1L):c.1260C>T (p.Leu420=) rs760245904 0.00006
NM_015335.5(MED13L):c.3068C>T (p.Thr1023Met) rs747244814 0.00006
NM_015335.5(MED13L):c.3429G>A (p.Ala1143=) rs753776073 0.00006
NM_015335.5(MED13L):c.6545A>G (p.Asn2182Ser) rs762926166 0.00006
NM_015443.4(KANSL1):c.1000A>G (p.Asn334Asp) rs112150341 0.00006
NM_015443.4(KANSL1):c.296A>G (p.Gln99Arg) rs754727332 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_017617.5(NOTCH1):c.1510C>T (p.Arg504Cys) rs752071569 0.00006
NM_017617.5(NOTCH1):c.1945C>A (p.Pro649Thr) rs780710009 0.00006
NM_017617.5(NOTCH1):c.2620G>A (p.Val874Ile) rs776698364 0.00006
NM_017617.5(NOTCH1):c.2640C>T (p.His880=) rs374946182 0.00006
NM_017617.5(NOTCH1):c.3270C>T (p.Thr1090=) rs773990513 0.00006
NM_017617.5(NOTCH1):c.3338C>T (p.Ala1113Val) rs377351349 0.00006
NM_017617.5(NOTCH1):c.3788G>A (p.Arg1263His) rs377594681 0.00006
NM_017617.5(NOTCH1):c.448G>A (p.Ala150Thr) rs372660483 0.00006
NM_017617.5(NOTCH1):c.4756C>T (p.Arg1586Cys) rs1418474023 0.00006
NM_017617.5(NOTCH1):c.5718G>A (p.Ala1906=) rs369730620 0.00006
NM_017617.5(NOTCH1):c.5776C>T (p.Arg1926Cys) rs199652954 0.00006
NM_017617.5(NOTCH1):c.7130C>T (p.Pro2377Leu) rs761839390 0.00006
NM_017617.5(NOTCH1):c.7292G>A (p.Arg2431Gln) rs753752321 0.00006
NM_017617.5(NOTCH1):c.7363A>G (p.Thr2455Ala) rs536167222 0.00006
NM_017617.5(NOTCH1):c.975C>T (p.Asn325=) rs746111102 0.00006
NM_017780.4(CHD7):c.1424T>C (p.Met475Thr) rs749781761 0.00006
NM_017780.4(CHD7):c.2680A>G (p.Thr894Ala) rs377662366 0.00006
NM_017780.4(CHD7):c.2788G>A (p.Glu930Lys) rs377330239 0.00006
NM_017780.4(CHD7):c.5015C>T (p.Ala1672Val) rs61737194 0.00006
NM_017780.4(CHD7):c.5270C>T (p.Ala1757Val) rs368747227 0.00006
NM_017780.4(CHD7):c.5275A>C (p.Lys1759Gln) rs371988345 0.00006
NM_017780.4(CHD7):c.90G>A (p.Pro30=) rs374464240 0.00006
NM_017780.4(CHD7):c.911T>C (p.Ile304Thr) rs537091457 0.00006
NM_018026.4(PACS1):c.1233C>T (p.Ser411=) rs201671985 0.00006
NM_018026.4(PACS1):c.2514C>T (p.Gly838=) rs199684328 0.00006
NM_018238.4(AGK):c.804C>T (p.Thr268=) rs543549513 0.00006
NM_018718.3(CEP41):c.320C>G (p.Ala107Gly) rs141025803 0.00006
NM_020436.5(SALL4):c.2028C>T (p.Asn676=) rs755057820 0.00006
NM_020529.3(NFKBIA):c.941G>A (p.Arg314His) rs142970414 0.00006
NM_020533.3(MCOLN1):c.1038G>A (p.Glu346=) rs535704197 0.00006
NM_020975.6(RET):c.2409C>T (p.Ile803=) rs535051804 0.00006
NM_021252.5(RAB18):c.*448G>A rs563981728 0.00006
NM_021625.5(TRPV4):c.1139C>T (p.Thr380Met) rs764949536 0.00006
NM_021830.5(TWNK):c.1975G>A (p.Ala659Thr) rs370814108 0.00006
NM_021926.4(ALX4):c.*437C>T rs542591808 0.00006
NM_021926.4(ALX4):c.1106G>A (p.Gly369Glu) rs750221052 0.00006
NM_022095.4(ZNF335):c.1830C>G (p.Leu610=) rs60180055 0.00006
NM_022114.4(PRDM16):c.1047C>T (p.Pro349=) rs182903782 0.00006
NM_022166.4(XYLT1):c.1626C>T (p.Cys542=) rs377097003 0.00006
NM_022168.4(IFIH1):c.2115A>C (p.Arg705Ser) rs185928139 0.00006
NM_022168.4(IFIH1):c.769+17C>T rs74162076 0.00006
NM_022455.5(NSD1):c.2031T>G (p.Ser677=) rs143705256 0.00006
NM_022455.5(NSD1):c.4642-7T>C rs183928380 0.00006
NM_022458.4(LMBR1):c.*2066G>C rs560208746 0.00006
NM_022458.4(LMBR1):c.1026G>A (p.Thr342=) rs140247020 0.00006
NM_022725.4(FANCF):c.148C>T (p.Arg50Trp) rs577253174 0.00006
NM_023110.3(FGFR1):c.1285-15C>T rs760069564 0.00006
NM_024120.5(NDUFAF5):c.222+8C>G rs113659919 0.00006
NM_024426.6(WT1):c.696C>T (p.Ser232=) rs9332974 0.00006
NM_024426.6(WT1):c.785G>A (p.Gly262Asp) rs372225738 0.00006
NM_024757.5(EHMT1):c.1359C>T (p.Ser453=) rs545055517 0.00006
NM_024757.5(EHMT1):c.1402G>A (p.Ala468Thr) rs202097707 0.00006
NM_024757.5(EHMT1):c.1433G>A (p.Gly478Glu) rs376787713 0.00006
NM_024757.5(EHMT1):c.149C>T (p.Ala50Val) rs143155406 0.00006
NM_024757.5(EHMT1):c.188C>T (p.Ala63Val) rs138292762 0.00006
NM_024757.5(EHMT1):c.1950C>T (p.Thr650=) rs199839806 0.00006
NM_024757.5(EHMT1):c.2019-18C>T rs181972681 0.00006
NM_024757.5(EHMT1):c.220C>G (p.Gln74Glu) rs531716541 0.00006
NM_024757.5(EHMT1):c.2442C>T (p.Ala814=) rs772286870 0.00006
NM_024757.5(EHMT1):c.2945A>G (p.Asn982Ser) rs141891925 0.00006
NM_024757.5(EHMT1):c.92C>T (p.Pro31Leu) rs769561363 0.00006
NM_025074.7(FRAS1):c.1072-5C>T rs570183677 0.00006
NM_025114.4(CEP290):c.5227-9A>G rs571981633 0.00006
NM_025136.4(OPA3):c.*5277G>A rs535986790 0.00006
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=) rs374362388 0.00006
NM_052989.3(IFT122):c.1992+7A>G rs757823317 0.00006
NM_130468.4(CHST14):c.567G>A (p.Val189=) rs758319940 0.00006
NM_130837.3(OPA1):c.678+13G>C rs561115644 0.00006
NM_133433.4(NIPBL):c.6438C>T (p.Thr2146=) rs376448686 0.00006
NM_133459.4(CCBE1):c.*4180A>G rs556156318 0.00006
NM_145068.4(TRPV3):c.*2760A>C rs551619649 0.00006
NM_145068.4(TRPV3):c.395T>C (p.Val132Ala) rs139870087 0.00006
NM_145068.4(TRPV3):c.643+2T>C rs746570091 0.00006
NM_152383.5(DIS3L2):c.1839C>T (p.Pro613=) rs187677159 0.00006
NM_152564.5(VPS13B):c.11216-6T>C rs780721865 0.00006
NM_152564.5(VPS13B):c.8010C>T (p.Ala2670=) rs376062743 0.00006
NM_170784.3(MKKS):c.757T>C (p.Ser253Pro) rs201785599 0.00006
NM_181458.4(PAX3):c.1420+186G>A rs78035924 0.00006
NM_181486.4(TBX5):c.786C>T (p.Thr262=) rs375955080 0.00006
NM_194318.4(B3GLCT):c.71-9T>C rs569540121 0.00006
NM_198253.3(TERT):c.129C>T (p.Asp43=) rs772537721 0.00006
NM_198525.3(KIF7):c.530-7C>T rs202043641 0.00006
NM_213599.3(ANO5):c.1215A>G (p.Gln405=) rs751839118 0.00006
NM_000052.7(ATP7A):c.1020G>A (p.Pro340=) rs372232940 0.00005
NM_000052.7(ATP7A):c.2241C>T (p.Asp747=) rs781928652 0.00005
NM_000052.7(ATP7A):c.2673T>G (p.Ala891=) rs782154912 0.00005
NM_000052.7(ATP7A):c.2830T>C (p.Phe944Leu) rs782143115 0.00005
NM_000052.7(ATP7A):c.3480G>A (p.Ser1160=) rs144293453 0.00005
NM_000052.7(ATP7A):c.475G>A (p.Ala159Thr) rs188836609 0.00005
NM_000089.4(COL1A2):c.526T>C (p.Phe176Leu) rs370234887 0.00005
NM_000093.5(COL5A1):c.*302C>G rs376087882 0.00005
NM_000093.5(COL5A1):c.*489A>G rs142194317 0.00005
NM_000093.5(COL5A1):c.1143C>T (p.Ala381=) rs200245996 0.00005
NM_000093.5(COL5A1):c.1228C>T (p.Arg410Trp) rs745360062 0.00005
NM_000093.5(COL5A1):c.1971G>A (p.Pro657=) rs981088114 0.00005
NM_000093.5(COL5A1):c.2310T>A (p.Pro770=) rs377123592 0.00005
NM_000093.5(COL5A1):c.2593-15T>C rs747677530 0.00005
NM_000093.5(COL5A1):c.2722C>T (p.Pro908Ser) rs144985214 0.00005
NM_000093.5(COL5A1):c.28C>T (p.Arg10Cys) rs1457110544 0.00005
NM_000093.5(COL5A1):c.3398G>A (p.Arg1133Gln) rs759580799 0.00005
NM_000093.5(COL5A1):c.4812C>T (p.Tyr1604=) rs542783734 0.00005
NM_000093.5(COL5A1):c.5293C>T (p.Arg1765Cys) rs199703883 0.00005
NM_000093.5(COL5A1):c.65C>A (p.Pro22Gln) rs863223467 0.00005
NM_000126.4(ETFA):c.451+14G>A rs557684539 0.00005
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln) rs199967286 0.00005
NM_000136.3(FANCC):c.1329+306C>T rs185023012 0.00005
NM_000136.3(FANCC):c.1494T>C (p.Ala498=) rs76895298 0.00005
NM_000138.5(FBN1):c.7820-4G>A rs750036723 0.00005
NM_000168.6(GLI3):c.1365C>T (p.Pro455=) rs544431683 0.00005
NM_000199.5(SGSH):c.163C>T (p.Arg55Cys) rs368650877 0.00005
NM_000202.8(IDS):c.1158C>T (p.Ser386=) rs372340411 0.00005
NM_000202.8(IDS):c.23G>T (p.Arg8Leu) rs782621858 0.00005
NM_000202.8(IDS):c.851C>T (p.Pro284Leu) rs782286857 0.00005
NM_000202.8(IDS):c.868G>A (p.Val290Met) rs782479238 0.00005
NM_000202.8(IDS):c.894G>A (p.Gln298=) rs781812519 0.00005
NM_000214.3(JAG1):c.2781C>T (p.Val927=) rs746664646 0.00005
NM_000214.3(JAG1):c.2928G>A (p.Thr976=) rs764341568 0.00005
NM_000214.3(JAG1):c.3065G>A (p.Arg1022Gln) rs376089631 0.00005
NM_000214.3(JAG1):c.3570G>A (p.Pro1190=) rs201572666 0.00005
NM_000219.6(KCNE1):c.139G>A (p.Val47Ile) rs199473353 0.00005
NM_000219.6(KCNE1):c.30G>A (p.Thr10=) rs187686559 0.00005
NM_000233.4(LHCGR):c.1669G>A (p.Glu557Lys) rs146785679 0.00005
NM_000233.4(LHCGR):c.1875A>T (p.Ile625=) rs200691173 0.00005
NM_000264.5(PTCH1):c.2068G>A (p.Val690Ile) rs750970743 0.00005
NM_000264.5(PTCH1):c.2497A>G (p.Met833Val) rs771222407 0.00005
NM_000264.5(PTCH1):c.4013G>A (p.Arg1338His) rs771238114 0.00005
NM_000280.4(PAX6):c.*3746C>T rs567720234 0.00005
NM_000284.4(PDHA1):c.1009-9A>C rs372177460 0.00005
NM_000284.4(PDHA1):c.693G>A (p.Thr231=) rs138237215 0.00005
NM_000284.4(PDHA1):c.759+10C>G rs375488072 0.00005
NM_000316.3(PTH1R):c.1255G>A (p.Val419Ile) rs758673796 0.00005
NM_000335.5(SCN5A):c.1755C>T (p.His585=) rs201024847 0.00005
NM_000368.5(TSC1):c.231C>T (p.Asn77=) rs397514809 0.00005
NM_000393.5(COL5A2):c.4325G>A (p.Arg1442Gln) rs761126767 0.00005
NM_000393.5(COL5A2):c.4471G>A (p.Val1491Ile) rs200703515 0.00005
NM_000414.4(HSD17B4):c.1566T>A (p.Ser522Arg) rs184492796 0.00005
NM_000466.3(PEX1):c.1441G>A (p.Val481Ile) rs139919229 0.00005
NM_000475.5(NR0B1):c.315G>C (p.Trp105Cys) rs132630327 0.00005
NM_000475.5(NR0B1):c.379G>A (p.Ala127Thr) rs766116884 0.00005
NM_000489.6(ATRX):c.118A>G (p.Met40Val) rs149990714 0.00005
NM_000489.6(ATRX):c.2683G>C (p.Val895Leu) rs782529714 0.00005
NM_000489.6(ATRX):c.2697G>A (p.Thr899=) rs137974888 0.00005
NM_000489.6(ATRX):c.2701A>G (p.Ile901Val) rs587778087 0.00005
NM_000489.6(ATRX):c.3622A>G (p.Ile1208Val) rs782257568 0.00005
NM_000489.6(ATRX):c.3907A>G (p.Thr1303Ala) rs781836912 0.00005
NM_000489.6(ATRX):c.3978A>G (p.Ser1326=) rs369658928 0.00005
NM_000489.6(ATRX):c.4710T>C (p.Phe1570=) rs781829081 0.00005
NM_000489.6(ATRX):c.4746A>G (p.Thr1582=) rs782097254 0.00005
NM_000489.6(ATRX):c.5957-9C>G rs375791318 0.00005
NM_000489.6(ATRX):c.6018T>A (p.Val2006=) rs781802180 0.00005
NM_000489.6(ATRX):c.6110+15A>G rs1309299805 0.00005
NM_000489.6(ATRX):c.6873A>G (p.Ile2291Met) rs192057045 0.00005
NM_000503.6(EYA1):c.65G>A (p.Gly22Asp) rs727503049 0.00005
NM_000719.7(CACNA1C):c.101C>T (p.Ala34Val) rs551396698 0.00005
NM_000719.7(CACNA1C):c.107C>T (p.Ala36Val) rs755028000 0.00005
NM_000891.3(KCNJ2):c.96C>T (p.Asn32=) rs67120636 0.00005
NM_001005498.4(RHBDF2):c.1908T>C (p.Ala636=) rs529460959 0.00005
NM_001018113.3(FANCB):c.1494G>T (p.Lys498Asn) rs199510538 0.00005
NM_001018113.3(FANCB):c.2165+10A>T rs184385334 0.00005
NM_001018115.3(FANCD2):c.1675A>G (p.Ile559Val) rs201408009 0.00005
NM_001024630.4(RUNX2):c.-120T>C rs535015975 0.00005
NM_001042492.3(NF1):c.2188A>T (p.Asn730Tyr) rs758893131 0.00005
NM_001042492.3(NF1):c.5523A>G (p.Gln1841=) rs151046636 0.00005
NM_001042545.2(LTBP4):c.1953G>A (p.Pro651=) rs371903094 0.00005
NM_001081550.2(THOC2):c.2481+42A>G rs780461608 0.00005
NM_001083962.2(TCF4):c.816C>T (p.Asp272=) rs138403996 0.00005
NM_001099404.2(SCN5A):c.647C>T (p.Ser216Leu) rs201002736 0.00005
NM_001104631.2(PDE4D):c.*1361C>T rs187518449 0.00005
NM_001113378.2(FANCI):c.1263C>T (p.Leu421=) rs376956791 0.00005
NM_001114753.3(ENG):c.1316A>C (p.Lys439Thr) rs368533266 0.00005
NM_001114753.3(ENG):c.689+17G>A rs773103359 0.00005
NM_001130144.3(LTBP3):c.885C>T (p.Pro295=) rs575590294 0.00005
NM_001148.6(ANK2):c.3136C>T (p.Leu1046=) rs149840991 0.00005
NM_001148.6(ANK2):c.9936C>T (p.Ser3312=) rs758162927 0.00005
NM_001271938.2(MEGF8):c.1116C>T (p.Ser372=) rs746659886 0.00005
NM_001271938.2(MEGF8):c.5751A>G (p.Pro1917=) rs200526872 0.00005
NM_001291415.2(KDM6A):c.2329T>C (p.Leu777=) rs757380047 0.00005
NM_001291415.2(KDM6A):c.3440+20T>G rs374117421 0.00005
NM_001291867.2(NHS):c.618G>A (p.Pro206=) rs200952266 0.00005
NM_001329943.3(KIAA0586):c.3774C>G (p.Ala1258=) rs199982600 0.00005
NM_001330078.2(NRXN1):c.2313A>G (p.Leu771=) rs779330397 0.00005
NM_001330078.2(NRXN1):c.3219C>T (p.Asn1073=) rs563089155 0.00005
NM_001354604.2(MITF):c.*2868T>C rs529623175 0.00005
NM_001365951.3(KIF1B):c.3423-15A>T rs200470260 0.00005
NM_001370259.2(MEN1):c.1032G>A (p.Thr344=) rs760183888 0.00005
NM_001371623.1(TCOF1):c.3628C>T (p.Pro1210Ser) rs558530968 0.00005
NM_001371623.1(TCOF1):c.630A>G (p.Thr210=) rs765654624 0.00005
NM_001374353.1(GLI2):c.1383G>A (p.Thr461=) rs768606373 0.00005
NM_001374353.1(GLI2):c.1947C>T (p.Ser649=) rs528985094 0.00005
NM_001379286.1(ZNF423):c.1131C>T (p.Ser377=) rs369662414 0.00005
NM_001379286.1(ZNF423):c.1365G>C (p.Leu455=) rs548578929 0.00005
NM_001379286.1(ZNF423):c.453C>T (p.Cys151=) rs569824346 0.00005
NM_001399.5(EDA):c.717T>G (p.Asp239Glu) rs766810445 0.00005
NM_001429.4(EP300):c.4503G>A (p.Leu1501=) rs368320273 0.00005
NM_001614.5(ACTG1):c.735C>T (p.Gly245=) rs186289501 0.00005
NM_001999.4(FBN2):c.1139C>T (p.Pro380Leu) rs139189178 0.00005
NM_001999.4(FBN2):c.1720A>G (p.Ile574Val) rs768073096 0.00005
NM_001999.4(FBN2):c.3414T>C (p.Phe1138=) rs769005512 0.00005
NM_001999.4(FBN2):c.6138G>T (p.Gly2046=) rs150627604 0.00005
NM_001999.4(FBN2):c.6297T>C (p.Thr2099=) rs770778839 0.00005
NM_002641.4(PIGA):c.96C>G (p.Thr32=) rs750555194 0.00005
NM_002693.3(POLG):c.150G>A (p.Gln50=) rs766501874 0.00005
NM_002693.3(POLG):c.1850G>A (p.Arg617His) rs779961986 0.00005
NM_003036.4(SKI):c.994A>G (p.Ile332Val) rs374264201 0.00005
NM_003072.5(SMARCA4):c.1803G>A (p.Pro601=) rs751166438 0.00005
NM_003079.5(SMARCE1):c.1167G>A (p.Ser389=) rs755995632 0.00005
NM_003334.4(UBA1):c.1197C>T (p.Ala399=) rs782593880 0.00005
NM_003334.4(UBA1):c.1543C>A (p.Arg515=) rs150198324 0.00005
NM_003334.4(UBA1):c.1791G>A (p.Glu597=) rs372366129 0.00005
NM_003334.4(UBA1):c.2839-7C>T rs199797125 0.00005
NM_003334.4(UBA1):c.678+18A>T rs782509809 0.00005
NM_003334.4(UBA1):c.798G>A (p.Glu266=) rs202041421 0.00005
NM_003482.4(KMT2D):c.10472G>A (p.Arg3491His) rs757247893 0.00005
NM_003482.4(KMT2D):c.12172A>G (p.Met4058Val) rs398123710 0.00005
NM_003482.4(KMT2D):c.13058C>T (p.Pro4353Leu) rs778418522 0.00005
NM_003482.4(KMT2D):c.1421T>C (p.Leu474Ser) rs544407449 0.00005
NM_003482.4(KMT2D):c.14474G>A (p.Arg4825Gln) rs758494772 0.00005
NM_003482.4(KMT2D):c.1994C>T (p.Pro665Leu) rs780891095 0.00005
NM_003482.4(KMT2D):c.3889C>T (p.Arg1297Cys) rs746084513 0.00005
NM_003482.4(KMT2D):c.4583+10T>C rs537765057 0.00005
NM_003482.4(KMT2D):c.4723A>G (p.Met1575Val) rs762474552 0.00005
NM_003482.4(KMT2D):c.6396C>T (p.Pro2132=) rs746085488 0.00005
NM_003482.4(KMT2D):c.7001G>A (p.Arg2334Gln) rs757300574 0.00005
NM_003482.4(KMT2D):c.7045C>T (p.Pro2349Ser) rs56123231 0.00005
NM_003482.4(KMT2D):c.7367G>A (p.Arg2456His) rs370115365 0.00005
NM_003482.4(KMT2D):c.8011G>A (p.Gly2671Ser) rs762567167 0.00005
NM_003482.4(KMT2D):c.9913A>G (p.Ser3305Gly) rs755854926 0.00005
NM_003611.3(OFD1):c.1460G>A (p.Arg487Gln) rs147104722 0.00005
NM_003611.3(OFD1):c.2489-17A>C rs182042414 0.00005
NM_003611.3(OFD1):c.2726G>A (p.Arg909Gln) rs371848382 0.00005
NM_003611.3(OFD1):c.567G>A (p.Gln189=) rs375104416 0.00005
NM_003611.3(OFD1):c.858G>A (p.Arg286=) rs778507612 0.00005
NM_003738.5(PTCH2):c.190T>C (p.Leu64=) rs199655603 0.00005
NM_003849.4(SUCLG1):c.590-7C>T rs537348295 0.00005
NM_004064.5(CDKN1B):c.476-13C>T rs201069255 0.00005
NM_004260.4(RECQL4):c.1483+7G>A rs373192242 0.00005
NM_004260.4(RECQL4):c.755C>T (p.Pro252Leu) rs199773279 0.00005
NM_004304.5(ALK):c.1107C>T (p.Asn369=) rs114429299 0.00005
NM_004304.5(ALK):c.1689C>T (p.Asn563=) rs565743321 0.00005
NM_004304.5(ALK):c.2109C>T (p.Asn703=) rs560163657 0.00005
NM_004370.6(COL12A1):c.8886G>T (p.Gly2962=) rs373455368 0.00005
NM_004380.3(CREBBP):c.177T>A (p.Leu59=) rs201027381 0.00005
NM_004380.3(CREBBP):c.3060+10G>A rs398124143 0.00005
NM_004380.3(CREBBP):c.414C>T (p.Ala138=) rs542552676 0.00005
NM_004380.3(CREBBP):c.6195C>T (p.Ser2065=) rs374150949 0.00005
NM_004560.4(ROR2):c.*520C>T rs367760102 0.00005
NM_004560.4(ROR2):c.*521G>A rs147339603 0.00005
NM_004560.4(ROR2):c.1712A>G (p.His571Arg) rs376970201 0.00005
NM_005027.4(PIK3R2):c.1076G>C (p.Ser359Thr) rs1041937206 0.00005
NM_005045.4(RELN):c.1795C>T (p.Arg599Cys) rs369272208 0.00005
NM_005055.5(RAPSN):c.363C>T (p.Leu121=) rs190548363 0.00005
NM_005188.4(CBL):c.1647C>A (p.Asp549Glu) rs369030902 0.00005
NM_005343.4(HRAS):c.222C>T (p.Thr74=) rs372223975 0.00005
NM_005629.4(SLC6A8):c.1221C>T (p.Phe407=) rs782066930 0.00005
NM_005629.4(SLC6A8):c.1506C>T (p.Arg502=) rs782374700 0.00005
NM_005629.4(SLC6A8):c.1597-5C>T rs376073223 0.00005
NM_005629.4(SLC6A8):c.1646A>C (p.Asn549Thr) rs782790088 0.00005
NM_005629.4(SLC6A8):c.1713C>T (p.Cys571=) rs782244505 0.00005
NM_005629.4(SLC6A8):c.1767+19C>G rs782515219 0.00005
NM_005629.4(SLC6A8):c.1884C>T (p.Val628=) rs782808736 0.00005
NM_005629.4(SLC6A8):c.395-4C>T rs782654694 0.00005
NM_005629.4(SLC6A8):c.498G>A (p.Thr166=) rs201260657 0.00005
NM_005629.4(SLC6A8):c.820G>A (p.Val274Met) rs782208622 0.00005
NM_005629.4(SLC6A8):c.913-14C>T rs368054317 0.00005
NM_005633.4(SOS1):c.864+12A>C rs374379005 0.00005
NM_005660.3(SLC35A2):c.1063G>A (p.Ala355Thr) rs376547003 0.00005
NM_005660.3(SLC35A2):c.639C>T (p.Ser213=) rs782301792 0.00005
NM_005660.3(SLC35A2):c.74C>T (p.Pro25Leu) rs781993117 0.00005
NM_005660.3(SLC35A2):c.771C>T (p.Ala257=) rs782663029 0.00005
NM_005660.3(SLC35A2):c.828C>T (p.Leu276=) rs782113085 0.00005
NM_005660.3(SLC35A2):c.90G>C (p.Ala30=) rs1057522337 0.00005
NM_005921.2(MAP3K1):c.3667-4G>T rs552563402 0.00005
NM_005982.4(SIX1):c.-24C>T rs201700039 0.00005
NM_006015.6(ARID1A):c.5311C>T (p.Pro1771Ser) rs187631645 0.00005
NM_006147.4(IRF6):c.*342A>C rs146078290 0.00005
NM_006306.4(SMC1A):c.756C>T (p.Asp252=) rs370671274 0.00005
NM_006306.4(SMC1A):c.825G>A (p.Arg275=) rs150488530 0.00005
NM_006939.4(SOS2):c.121A>G (p.Asn41Asp) rs575983927 0.00005
NM_007215.4(POLG2):c.-70T>C rs138418765 0.00005
NM_007373.4(SHOC2):c.*20C>T rs371005619 0.00005
NM_012186.3(FOXE3):c.135G>A (p.Ala45=) rs886044273 0.00005
NM_013275.6(ANKRD11):c.6760G>A (p.Gly2254Arg) rs1003478010 0.00005
NM_013275.6(ANKRD11):c.824A>G (p.Asn275Ser) rs138723232 0.00005
NM_013275.6(ANKRD11):c.868A>G (p.Thr290Ala) rs776494318 0.00005
NM_014244.5(ADAMTS2):c.291C>T (p.Phe97=) rs462009 0.00005
NM_014795.4(ZEB2):c.375G>A (p.Thr125=) rs138389836 0.00005
NM_015335.5(MED13L):c.1185A>C (p.Gln395His) rs374884525 0.00005
NM_015338.6(ASXL1):c.2802T>C (p.Ala934=) rs571165637 0.00005
NM_016169.4(SUFU):c.183-4G>A rs766044613 0.00005
NM_017617.5(NOTCH1):c.1664C>T (p.Thr555Met) rs746796894 0.00005
NM_017617.5(NOTCH1):c.1774C>T (p.Arg592Cys) rs1472690723 0.00005
NM_017617.5(NOTCH1):c.2355T>C (p.Gly785=) rs199719103 0.00005
NM_017617.5(NOTCH1):c.2388G>A (p.Ala796=) rs561956078 0.00005
NM_017617.5(NOTCH1):c.2521G>A (p.Gly841Ser) rs369259434 0.00005
NM_017617.5(NOTCH1):c.2783C>T (p.Thr928Met) rs764921648 0.00005
NM_017617.5(NOTCH1):c.2908A>G (p.Thr970Ala) rs201053795 0.00005
NM_017617.5(NOTCH1):c.3553G>A (p.Asp1185Asn) rs548083258 0.00005
NM_017617.5(NOTCH1):c.382C>T (p.Arg128Cys) rs371868900 0.00005
NM_017617.5(NOTCH1):c.4046C>T (p.Ala1349Val) rs752951296 0.00005
NM_017617.5(NOTCH1):c.4137G>A (p.Thr1379=) rs762733162 0.00005
NM_017617.5(NOTCH1):c.4238G>A (p.Arg1413His) rs371068504 0.00005
NM_017617.5(NOTCH1):c.4492A>G (p.Lys1498Glu) rs745681787 0.00005
NM_017617.5(NOTCH1):c.4793G>A (p.Arg1598His) rs755124691 0.00005
NM_017617.5(NOTCH1):c.4981C>T (p.Arg1661Trp) rs998433493 0.00005
NM_017617.5(NOTCH1):c.5223G>A (p.Ala1741=) rs766444406 0.00005
NM_017617.5(NOTCH1):c.5248G>A (p.Val1750Met) rs368396893 0.00005
NM_017617.5(NOTCH1):c.7016C>A (p.Ala2339Asp) rs773134608 0.00005
NM_017617.5(NOTCH1):c.7229C>T (p.Pro2410Leu) rs560981171 0.00005
NM_017780.4(CHD7):c.1104C>T (p.His368=) rs763250461 0.00005
NM_017780.4(CHD7):c.1562C>T (p.Pro521Leu) rs373211059 0.00005
NM_017780.4(CHD7):c.1966C>T (p.Pro656Ser) rs769003426 0.00005
NM_017780.4(CHD7):c.2675G>A (p.Arg892His) rs200188105 0.00005
NM_017780.4(CHD7):c.3706G>A (p.Ala1236Thr) rs771781756 0.00005
NM_017780.4(CHD7):c.5105G>A (p.Ser1702Asn) rs370599133 0.00005
NM_017780.4(CHD7):c.5745G>A (p.Arg1915=) rs376993840 0.00005
NM_017780.4(CHD7):c.8356G>A (p.Gly2786Arg) rs765315726 0.00005
NM_018026.4(PACS1):c.1626+20A>G rs200284391 0.00005
NM_018026.4(PACS1):c.2250+12C>T rs760895616 0.00005
NM_018026.4(PACS1):c.563A>G (p.Asn188Ser) rs200950761 0.00005
NM_018486.3(HDAC8):c.639C>T (p.Asp213=) rs142540077 0.00005
NM_020458.4(TTC7A):c.348+12G>A rs777847973 0.00005
NM_020529.3(NFKBIA):c.179C>T (p.Pro60Leu) rs371482940 0.00005
NM_020964.3(EPG5):c.2233G>A (p.Ala745Thr) rs564487069 0.00005
NM_020975.6(RET):c.2393-8G>A rs376151644 0.00005
NM_020975.6(RET):c.2418C>T (p.Tyr806=) rs553418132 0.00005
NM_020975.6(RET):c.3188-9C>T rs551159582 0.00005
NM_022042.4(SLC26A1):c.955G>A (p.Val319Met) rs558586992 0.00005
NM_022168.4(IFIH1):c.1787_1797del (p.Lys596fs) rs766039450 0.00005
NM_022168.4(IFIH1):c.1866G>A (p.Ala622=) rs766027130 0.00005
NM_022168.4(IFIH1):c.1899G>T (p.Glu633Asp) rs550930413 0.00005
NM_022168.4(IFIH1):c.2464C>T (p.Arg822Ter) rs747926684 0.00005
NM_022455.5(NSD1):c.3803G>A (p.Arg1268Gln) rs368706736 0.00005
NM_022455.5(NSD1):c.5712C>T (p.Pro1904=) rs756321444 0.00005
NM_022458.4(LMBR1):c.*2820G>A rs550075183 0.00005
NM_024312.5(GNPTAB):c.2019A>G (p.Lys673=) rs551905649 0.00005
NM_024757.5(EHMT1):c.1105G>A (p.Ala369Thr) rs200076276 0.00005
NM_025136.4(OPA3):c.*7018G>C rs557041940 0.00005
NM_025265.4(TSEN2):c.389A>C (p.Lys130Thr) rs142211875 0.00005
NM_030662.4(MAP2K2):c.1198G>A (p.Val400Met) rs533247725 0.00005
NM_030662.4(MAP2K2):c.690G>A (p.Thr230=) rs201287884 0.00005
NM_133433.4(NIPBL):c.1591A>G (p.Thr531Ala) rs587783890 0.00005
NM_138959.3(VANGL1):c.*707C>T rs562969850 0.00005
NM_145068.4(TRPV3):c.955C>T (p.Arg319Cys) rs370662760 0.00005
NM_147127.5(EVC2):c.209G>T (p.Gly70Val) rs754380041 0.00005
NM_152383.5(DIS3L2):c.1300G>A (p.Val434Ile) rs758366698 0.00005
NM_152594.3(SPRED1):c.1006G>A (p.Val336Ile) rs373477920 0.00005
NM_153490.3(KRT13):c.1133G>A (p.Arg378His) rs200309164 0.00005
NM_176787.5(PIGN):c.1117-5C>T rs747229315 0.00005
NM_000020.3(ACVRL1):c.526-11C>T rs573934792 0.00004
NM_000044.6(AR):c.1063G>C (p.Glu355Gln) rs367604031 0.00004
NM_000052.7(ATP7A):c.2499-7T>C rs782260332 0.00004
NM_000052.7(ATP7A):c.2657G>A (p.Gly886Asp) rs188175511 0.00004
NM_000052.7(ATP7A):c.3094T>C (p.Leu1032=) rs369055537 0.00004
NM_000052.7(ATP7A):c.645T>C (p.Tyr215=) rs782587854 0.00004
NM_000052.7(ATP7A):c.765A>G (p.Leu255=) rs781957871 0.00004
NM_000077.5(CDKN2A):c.405G>A (p.Gly135=) rs751586391 0.00004
NM_000088.4(COL1A1):c.1109G>A (p.Arg370His) rs750756697 0.00004
NM_000088.4(COL1A1):c.2235+15C>T rs754442679 0.00004
NM_000088.4(COL1A1):c.3278G>A (p.Arg1093His) rs781491172 0.00004
NM_000088.4(COL1A1):c.3755G>A (p.Arg1252His) rs371904584 0.00004
NM_000088.4(COL1A1):c.4009G>A (p.Glu1337Lys) rs760040029 0.00004
NM_000088.4(COL1A1):c.408A>G (p.Gly136=) rs533127847 0.00004
NM_000088.4(COL1A1):c.4196G>A (p.Arg1399His) rs146035171 0.00004
NM_000088.4(COL1A1):c.589-18T>G rs775985897 0.00004
NM_000088.4(COL1A1):c.655C>T (p.Pro219Ser) rs868168330 0.00004
NM_000089.4(COL1A2):c.2400C>T (p.Pro800=) rs139913150 0.00004
NM_000089.4(COL1A2):c.48C>T (p.Thr16=) rs780687409 0.00004
NM_000089.4(COL1A2):c.783T>C (p.Pro261=) rs200436925 0.00004
NM_000090.4(COL3A1):c.3336T>C (p.Pro1112=) rs749357239 0.00004
NM_000093.5(COL5A1):c.12T>C (p.His4=) rs368818087 0.00004
NM_000093.5(COL5A1):c.1307C>T (p.Ala436Val) rs144269434 0.00004
NM_000093.5(COL5A1):c.1346G>A (p.Arg449Gln) rs778297413 0.00004
NM_000093.5(COL5A1):c.145C>T (p.His49Tyr) rs372168541 0.00004
NM_000093.5(COL5A1):c.1528G>A (p.Asp510Asn) rs374204025 0.00004
NM_000093.5(COL5A1):c.1569+19C>T rs373086315 0.00004
NM_000093.5(COL5A1):c.1595C>T (p.Ala532Val) rs369000939 0.00004
NM_000093.5(COL5A1):c.2253C>T (p.Gly751=) rs772257562 0.00004
NM_000093.5(COL5A1):c.2268C>T (p.Pro756=) rs367755808 0.00004
NM_000093.5(COL5A1):c.2354C>T (p.Pro785Leu) rs760539229 0.00004
NM_000093.5(COL5A1):c.2997C>T (p.Val999=) rs201897490 0.00004
NM_000093.5(COL5A1):c.3247C>T (p.Pro1083Ser) rs370321707 0.00004
NM_000093.5(COL5A1):c.4374C>T (p.Asp1458=) rs201335857 0.00004
NM_000093.5(COL5A1):c.446C>T (p.Pro149Leu) rs369971694 0.00004
NM_000093.5(COL5A1):c.4473C>T (p.Ile1491=) rs537768945 0.00004
NM_000093.5(COL5A1):c.4522C>A (p.Pro1508Thr) rs148687561 0.00004
NM_000093.5(COL5A1):c.4751G>A (p.Arg1584Gln) rs369501428 0.00004
NM_000093.5(COL5A1):c.4803C>T (p.Tyr1601=) rs199637893 0.00004
NM_000093.5(COL5A1):c.4942G>A (p.Asp1648Asn) rs771354369 0.00004
NM_000093.5(COL5A1):c.5311G>A (p.Asp1771Asn) rs1005244744 0.00004
NM_000093.5(COL5A1):c.683C>T (p.Ser228Leu) rs770737485 0.00004
NM_000093.5(COL5A1):c.997G>A (p.Val333Ile) rs762624092 0.00004
NM_000135.4(FANCA):c.1951G>A (p.Gly651Arg) rs140785340 0.00004
NM_000135.4(FANCA):c.2982-15G>A rs55718325 0.00004
NM_000135.4(FANCA):c.3576G>A (p.Pro1192=) rs553086820 0.00004
NM_000138.5(FBN1):c.*1325T>C rs569152308 0.00004
NM_000138.5(FBN1):c.1884C>T (p.Cys628=) rs150421653 0.00004
NM_000138.5(FBN1):c.3896C>T (p.Thr1299Met) rs774851476 0.00004
NM_000138.5(FBN1):c.538+4A>G rs375721252 0.00004
NM_000142.5(FGFR3):c.1960-7C>T rs779177992 0.00004
NM_000165.5(GJA1):c.764G>A (p.Ser255Asn) rs765459582 0.00004
NM_000168.6(GLI3):c.1221C>T (p.Ser407=) rs369180011 0.00004
NM_000168.6(GLI3):c.1969G>A (p.Gly657Ser) rs377579354 0.00004
NM_000168.6(GLI3):c.2306C>T (p.Pro769Leu) rs139672999 0.00004
NM_000168.6(GLI3):c.3611C>G (p.Pro1204Arg) rs543636524 0.00004
NM_000202.8(IDS):c.1290G>A (p.Glu430=) rs140633427 0.00004
NM_000202.8(IDS):c.162T>C (p.Tyr54=) rs141088021 0.00004
NM_000202.8(IDS):c.301C>T (p.Arg101Cys) rs782738754 0.00004
NM_000202.8(IDS):c.450G>A (p.Pro150=) rs201892132 0.00004
NM_000214.3(JAG1):c.1439C>T (p.Ala480Val) rs149366993 0.00004
NM_000214.3(JAG1):c.1511A>G (p.Asn504Ser) rs527236046 0.00004
NM_000214.3(JAG1):c.2139G>A (p.Thr713=) rs374177670 0.00004
NM_000214.3(JAG1):c.2827C>T (p.Pro943Ser) rs760332763 0.00004
NM_000218.3(KCNQ1):c.1345G>A (p.Glu449Lys) rs372583676 0.00004
NM_000238.4(KCNH2):c.783G>A (p.Ser261=) rs769470521 0.00004
NM_000264.5(PTCH1):c.101G>C (p.Arg34Thr) rs771847879 0.00004
NM_000264.5(PTCH1):c.1063G>A (p.Val355Ile) rs555332902 0.00004
NM_000264.5(PTCH1):c.1223A>G (p.His408Arg) rs763941524 0.00004
NM_000264.5(PTCH1):c.1388C>G (p.Ser463Cys) rs764195249 0.00004
NM_000264.5(PTCH1):c.1710G>T (p.Leu570=) rs374924167 0.00004
NM_000264.5(PTCH1):c.1894G>A (p.Asp632Asn) rs559293815 0.00004
NM_000264.5(PTCH1):c.1994G>A (p.Arg665His) rs139705799 0.00004
NM_000264.5(PTCH1):c.2049C>T (p.Ser683=) rs756242911 0.00004
NM_000264.5(PTCH1):c.3375C>T (p.Pro1125=) rs369760318 0.00004
NM_000264.5(PTCH1):c.3436G>A (p.Asp1146Asn) rs749542089 0.00004
NM_000264.5(PTCH1):c.3575G>A (p.Arg1192His) rs762040036 0.00004
NM_000264.5(PTCH1):c.3817G>A (p.Glu1273Lys) rs749244396 0.00004
NM_000264.5(PTCH1):c.404G>A (p.Arg135Gln) rs375628555 0.00004
NM_000264.5(PTCH1):c.4059G>A (p.Ala1353=) rs368110756 0.00004
NM_000264.5(PTCH1):c.4086C>T (p.Pro1362=) rs375588552 0.00004
NM_000264.5(PTCH1):c.91G>A (p.Gly31Arg) rs768512190 0.00004
NM_000284.4(PDHA1):c.291+12G>A rs755244308 0.00004
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val) rs199473561 0.00004
NM_000346.4(SOX9):c.187G>C (p.Glu63Gln) rs149852681 0.00004
NM_000346.4(SOX9):c.200A>G (p.Asp67Gly) rs769953292 0.00004
NM_000368.5(TSC1):c.*1508A>G rs552190342 0.00004
NM_000393.5(COL5A2):c.1478C>T (p.Pro493Leu) rs755909523 0.00004
NM_000393.5(COL5A2):c.233A>T (p.Asp78Val) rs201022138 0.00004
NM_000393.5(COL5A2):c.2343C>T (p.Gly781=) rs762976916 0.00004
NM_000393.5(COL5A2):c.3019C>T (p.Pro1007Ser) rs1388564782 0.00004
NM_000393.5(COL5A2):c.3614T>C (p.Val1205Ala) rs148110552 0.00004
NM_000475.5(NR0B1):c.993C>T (p.Asn331=) rs767263700 0.00004
NM_000489.6(ATRX):c.1041T>G (p.Ile347Met) rs199780997 0.00004
NM_000489.6(ATRX):c.1047C>G (p.Pro349=) rs200288042 0.00004
NM_000489.6(ATRX):c.1438A>G (p.Thr480Ala) rs587780284 0.00004
NM_000489.6(ATRX):c.1448A>C (p.Gln483Pro) rs781820428 0.00004
NM_000489.6(ATRX):c.1679C>G (p.Ser560Cys) rs782446684 0.00004
NM_000489.6(ATRX):c.2114A>G (p.Asp705Gly) rs781804632 0.00004
NM_000489.6(ATRX):c.2117G>C (p.Ser706Thr) rs782171296 0.00004
NM_000489.6(ATRX):c.2224A>G (p.Ser742Gly) rs368980616 0.00004
NM_000489.6(ATRX):c.2423G>A (p.Arg808Gln) rs782181535 0.00004
NM_000489.6(ATRX):c.2573A>G (p.Lys858Arg) rs782593341 0.00004
NM_000489.6(ATRX):c.2652G>C (p.Glu884Asp) rs782123222 0.00004
NM_000489.6(ATRX):c.2764G>A (p.Asp922Asn) rs373581602 0.00004
NM_000489.6(ATRX):c.2869G>C (p.Val957Leu) rs1557138704 0.00004
NM_000489.6(ATRX):c.2922C>T (p.Ser974=) rs1476227727 0.00004
NM_000489.6(ATRX):c.3091G>A (p.Gly1031Ser) rs782781078 0.00004
NM_000489.6(ATRX):c.3207G>A (p.Gly1069=) rs782472957 0.00004
NM_000489.6(ATRX):c.3737-6C>T rs373071937 0.00004
NM_000489.6(ATRX):c.4134T>G (p.Asp1378Glu) rs782302000 0.00004
NM_000489.6(ATRX):c.4214+17T>C rs782525895 0.00004
NM_000489.6(ATRX):c.4557+15T>C rs782672265 0.00004
NM_000489.6(ATRX):c.5272+16T>C rs377679337 0.00004
NM_000489.6(ATRX):c.5448+20T>G rs782183661 0.00004
NM_000489.6(ATRX):c.5567-18C>T rs782747817 0.00004
NM_000489.6(ATRX):c.5956+16G>A rs782016890 0.00004
NM_000489.6(ATRX):c.7254C>T (p.Tyr2418=) rs782527659 0.00004
NM_000493.4(COL10A1):c.*151C>A rs534102410 0.00004
NM_000493.4(COL10A1):c.1806C>T (p.His602=) rs753033965 0.00004
NM_000493.4(COL10A1):c.1875T>C (p.Tyr625=) rs748777581 0.00004
NM_000493.4(COL10A1):c.2040G>C (p.Met680Ile) rs200235459 0.00004
NM_000493.4(COL10A1):c.273A>G (p.Gln91=) rs547224731 0.00004
NM_000501.4(ELN):c.1674C>T (p.Gly558=) rs182784538 0.00004
NM_000501.4(ELN):c.2077C>T (p.Pro693Ser) rs369804770 0.00004
NM_000501.4(ELN):c.2132-5T>A rs539160518 0.00004
NM_000501.4(ELN):c.643+16G>A rs199662424 0.00004
NM_000528.4(MAN2B1):c.2884C>T (p.Arg962Cys) rs370276057 0.00004
NM_000548.5(TSC2):c.4434C>T (p.Asp1478=) rs758374702 0.00004
NM_000553.6(WRN):c.3309+13G>T rs554036292 0.00004
NM_000553.6(WRN):c.3627T>A (p.Ala1209=) rs780963410 0.00004
NM_000557.5(GDF5):c.*387T>C rs553655935 0.00004
NM_000557.5(GDF5):c.*389C>T rs535023630 0.00004
NM_000719.7(CACNA1C):c.478-19T>G rs571558332 0.00004
NM_000751.3(CHRND):c.1252+10C>T rs373581541 0.00004
NM_000751.3(CHRND):c.611G>T (p.Gly204Val) rs531000772 0.00004
NM_001001433.3(STX16):c.-421C>G rs557592494 0.00004
NM_001001433.3(STX16):c.394-7C>T rs533111939 0.00004
NM_001005498.4(RHBDF2):c.1912G>A (p.Val638Met) rs575187651 0.00004
NM_001018113.3(FANCB):c.2394C>T (p.Val798=) rs190579053 0.00004
NM_001018113.3(FANCB):c.513G>A (p.Gln171=) rs763353362 0.00004
NM_001024630.4(RUNX2):c.*2826G>A rs537731522 0.00004
NM_001042492.3(NF1):c.181A>G (p.Ile61Val) rs754295034 0.00004
NM_001042492.3(NF1):c.3371G>A (p.Ser1124Asn) rs374472758 0.00004
NM_001042492.3(NF1):c.3883A>G (p.Thr1295Ala) rs143836226 0.00004
NM_001042492.3(NF1):c.3947A>G (p.His1316Arg) rs751023085 0.00004
NM_001042492.3(NF1):c.5793T>C (p.Ile1931=) rs779114598 0.00004
NM_001042492.3(NF1):c.5812+8A>G rs372075322 0.00004
NM_001042492.3(NF1):c.6643-13T>C rs764601493 0.00004
NM_001042492.3(NF1):c.7046G>A (p.Arg2349His) rs864622065 0.00004
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp) rs372686071 0.00004
NM_001044385.3(TMEM237):c.274+11A>G rs200487330 0.00004
NM_001044385.3(TMEM237):c.33G>A (p.Glu11=) rs544767440 0.00004
NM_001083962.2(TCF4):c.1194T>C (p.His398=) rs200225114 0.00004
NM_001083962.2(TCF4):c.945C>T (p.Ala315=) rs200115299 0.00004
NM_001101.5(ACTB):c.1017G>C (p.Val339=) rs201416978 0.00004
NM_001106.4(ACVR2B):c.*6638C>T rs552937102 0.00004
NM_001106.4(ACVR2B):c.147C>T (p.Cys49=) rs201686292 0.00004
NM_001110219.3(GJB6):c.396G>A (p.Leu132=) rs189971962 0.00004
NM_001113378.2(FANCI):c.3705C>T (p.Ala1235=) rs185771112 0.00004
NM_001114753.3(ENG):c.112G>A (p.Glu38Lys) rs747481834 0.00004
NM_001114753.3(ENG):c.1686+19G>A rs201163068 0.00004
NM_001114753.3(ENG):c.1761C>T (p.Leu587=) rs546872552 0.00004
NM_001114753.3(ENG):c.727G>A (p.Ala243Thr) rs761827492 0.00004
NM_001114753.3(ENG):c.742G>A (p.Asp248Asn) rs775160533 0.00004
NM_001122681.2(SH3BP2):c.1488+7G>A rs113327530 0.00004
NM_001122681.2(SH3BP2):c.1489-16C>T rs568904047 0.00004
NM_001122681.2(SH3BP2):c.1489-5T>C rs765618391 0.00004
NM_001122681.2(SH3BP2):c.1549-7C>T rs148481218 0.00004
NM_001122681.2(SH3BP2):c.528C>T (p.His176=) rs138986397 0.00004
NM_001130144.3(LTBP3):c.1556G>A (p.Ser519Asn) rs570380350 0.00004
NM_001148.6(ANK2):c.10392G>A (p.Lys3464=) rs566264323 0.00004
NM_001148.6(ANK2):c.11864A>G (p.Asn3955Ser) rs201555985 0.00004
NM_001148.6(ANK2):c.2901-16C>G rs200750637 0.00004
NM_001151.4(SLC25A4):c.*3070C>T rs539027516 0.00004
NM_001174147.2(LMX1B):c.*1287A>T rs572241075 0.00004
NM_001203.3(BMPR1B):c.1105A>G (p.Asn369Asp) rs778257341 0.00004
NM_001276345.2(TNNT2):c.52+13G>A rs376820377 0.00004
NM_001282531.3(ADNP):c.393G>A (p.Pro131=) rs201360495 0.00004
NM_001291415.2(KDM6A):c.1582-14T>G rs752540909 0.00004
NM_001291415.2(KDM6A):c.4135C>G (p.Pro1379Ala) rs370883451 0.00004
NM_001291415.2(KDM6A):c.624A>G (p.Gln208=) rs200602649 0.00004
NM_001291867.2(NHS):c.2663T>C (p.Met888Thr) rs200321491 0.00004
NM_001291867.2(NHS):c.2791G>T (p.Asp931Tyr) rs192848792 0.00004
NM_001329943.3(KIAA0586):c.1543G>A (p.Ala515Thr) rs568910724 0.00004
NM_001347721.2(DYRK1A):c.1630A>G (p.Thr544Ala) rs759183785 0.00004
NM_001365951.3(KIF1B):c.2245T>C (p.Trp749Arg) rs551543997 0.00004
NM_001365999.1(SZT2):c.8319T>G (p.Ala2773=) rs149672814 0.00004
NM_001367561.1(DOCK7):c.5724+18A>G rs377719435 0.00004
NM_001368894.2(PAX6):c.909T>C (p.Ser303=) rs202154006 0.00004
NM_001370259.2(MEN1):c.1386C>A (p.Ala462=) rs771827808 0.00004
NM_001370259.2(MEN1):c.1401C>T (p.Ala467=) rs878855190 0.00004
NM_001370259.2(MEN1):c.1416C>T (p.Gly472=) rs764509990 0.00004
NM_001370259.2(MEN1):c.1434C>T (p.Gly478=) rs200280309 0.00004
NM_001370259.2(MEN1):c.1518C>T (p.Thr506=) rs749265222 0.00004
NM_001370259.2(MEN1):c.1594G>T (p.Gly532Cys) rs587780843 0.00004
NM_001370259.2(MEN1):c.1800G>T (p.Leu600=) rs148825200 0.00004
NM_001370259.2(MEN1):c.375A>T (p.Ile125=) rs184896922 0.00004
NM_001370259.2(MEN1):c.531G>A (p.Leu177=) rs146568011 0.00004
NM_001370259.2(MEN1):c.642T>C (p.Gly214=) rs931878410 0.00004
NM_001370259.2(MEN1):c.753C>T (p.Thr251=) rs763326062 0.00004
NM_001370259.2(MEN1):c.784-10C>T rs71526470 0.00004
NM_001374353.1(GLI2):c.4571C>A (p.Ser1524Tyr) rs199887024 0.00004
NM_001374353.1(GLI2):c.546C>T (p.Leu182=) rs200028917 0.00004
NM_001378964.1(CDON):c.*1307T>G rs539481575 0.00004
NM_001378964.1(CDON):c.*589C>T rs565527208 0.00004
NM_001378964.1(CDON):c.1977C>T (p.Ser659=) rs563267429 0.00004
NM_001379200.1(TBX1):c.437+11C>T rs751433208 0.00004
NM_001379286.1(ZNF423):c.3517-18T>C rs377719857 0.00004
NM_001382391.1(CSPP1):c.924-9G>A rs199910808 0.00004
NM_001386795.1(DTNA):c.1875G>A (p.Gly625=) rs542483546 0.00004
NM_001399.5(EDA):c.469A>G (p.Asn157Asp) rs374824991 0.00004
NM_001429.4(EP300):c.2359G>A (p.Gly787Ser) rs564786569 0.00004
NM_001429.4(EP300):c.2756G>A (p.Ser919Asn) rs141403873 0.00004
NM_001429.4(EP300):c.3522A>G (p.Thr1174=) rs756748826 0.00004
NM_001429.4(EP300):c.5683C>T (p.Pro1895Ser) rs749979249 0.00004
NM_001614.5(ACTG1):c.81C>T (p.Pro27=) rs11549230 0.00004
NM_001626.6(AKT2):c.1296C>T (p.Ser432=) rs56098986 0.00004
NM_001719.3(BMP7):c.847G>A (p.Ala283Thr) rs560540219 0.00004
NM_001999.4(FBN2):c.1103C>T (p.Ser368Leu) rs562268545 0.00004
NM_001999.4(FBN2):c.1313G>A (p.Gly438Glu) rs751545674 0.00004
NM_001999.4(FBN2):c.1400T>C (p.Phe467Ser) rs779849582 0.00004
NM_001999.4(FBN2):c.2363G>A (p.Arg788His) rs368116715 0.00004
NM_001999.4(FBN2):c.3793G>A (p.Glu1265Lys) rs776031352 0.00004
NM_001999.4(FBN2):c.4286C>T (p.Pro1429Leu) rs771467729 0.00004
NM_001999.4(FBN2):c.4418G>A (p.Arg1473His) rs140812463 0.00004
NM_001999.4(FBN2):c.6153C>T (p.Ser2051=) rs888075207 0.00004
NM_001999.4(FBN2):c.6539G>A (p.Gly2180Asp) rs537628586 0.00004
NM_001999.4(FBN2):c.8230T>G (p.Tyr2744Asp) rs752138290 0.00004
NM_002272.4(KRT4):c.1512C>A (p.Gly504=) rs573971498 0.00004
NM_002386.4(MC1R):c.241G>C (p.Ala81Pro) rs772286882 0.00004
NM_002397.5(MEF2C):c.258+10C>T rs563149132 0.00004
NM_002427.4(MMP13):c.741C>T (p.Thr247=) rs782086012 0.00004
NM_002449.5(MSX2):c.49G>A (p.Gly17Ser) rs754789827 0.00004
NM_002449.5(MSX2):c.723G>A (p.Pro241=) rs201103544 0.00004
NM_002465.4(MYBPC1):c.104-10C>A rs373075518 0.00004
NM_002465.4(MYBPC1):c.2539C>T (p.Arg847Cys) rs768199021 0.00004
NM_002470.4(MYH3):c.2517C>A (p.Pro839=) rs577088293 0.00004
NM_002470.4(MYH3):c.4323C>T (p.Ala1441=) rs185355384 0.00004
NM_002470.4(MYH3):c.4941C>T (p.Val1647=) rs143855213 0.00004
NM_002485.5(NBN):c.1124+20G>A rs201436502 0.00004
NM_002485.5(NBN):c.278C>T (p.Ser93Leu) rs12721593 0.00004
NM_002485.5(NBN):c.481-18A>G rs587781092 0.00004
NM_002485.5(NBN):c.481-4G>A rs754864893 0.00004
NM_002485.5(NBN):c.702+16G>C rs2272581 0.00004
NM_002641.4(PIGA):c.198G>A (p.Lys66=) rs762748091 0.00004
NM_002641.4(PIGA):c.877A>G (p.Lys293Glu) rs202161781 0.00004
NM_002641.4(PIGA):c.981+8G>A rs778602062 0.00004
NM_002734.5(PRKAR1A):c.546G>A (p.Thr182=) rs117639566 0.00004
NM_003036.4(SKI):c.1041C>T (p.Ser347=) rs140745811 0.00004
NM_003036.4(SKI):c.138C>T (p.Ala46=) rs745527890 0.00004
NM_003070.5(SMARCA2):c.4646G>A (p.Arg1549Gln) rs201798443 0.00004
NM_003072.5(SMARCA4):c.1209G>A (p.Glu403=) rs200159174 0.00004
NM_003072.5(SMARCA4):c.147G>A (p.Pro49=) rs758438795 0.00004
NM_003072.5(SMARCA4):c.2199C>T (p.Ala733=) rs538629432 0.00004
NM_003072.5(SMARCA4):c.3765G>A (p.Glu1255=) rs183060137 0.00004
NM_003072.5(SMARCA4):c.4170+5A>G rs749029481 0.00004
NM_003073.5(SMARCB1):c.1032C>T (p.Gly344=) rs149451748 0.00004
NM_003079.5(SMARCE1):c.1089T>C (p.Thr363=) rs767262463 0.00004
NM_003334.4(UBA1):c.1610G>A (p.Arg537His) rs372418523 0.00004
NM_003334.4(UBA1):c.177-11del rs781797300 0.00004
NM_003334.4(UBA1):c.2376G>A (p.Gln792=) rs782085921 0.00004
NM_003334.4(UBA1):c.3123C>T (p.Asn1041=) rs781864389 0.00004
NM_003413.4(ZIC3):c.906C>T (p.Cys302=) rs779221820 0.00004
NM_003477.3(PDHX):c.1188A>G (p.Leu396=) rs200434738 0.00004
NM_003482.4(KMT2D):c.10165A>G (p.Met3389Val) rs372740284 0.00004
NM_003482.4(KMT2D):c.10312G>A (p.Val3438Met) rs35087111 0.00004
NM_003482.4(KMT2D):c.10522C>T (p.Arg3508Trp) rs777638253 0.00004
NM_003482.4(KMT2D):c.10741-7A>G rs550510739 0.00004
NM_003482.4(KMT2D):c.1075C>T (p.Arg359Cys) rs372085797 0.00004
NM_003482.4(KMT2D):c.11178A>G (p.Gln3726=) rs753715045 0.00004
NM_003482.4(KMT2D):c.11180G>A (p.Arg3727His) rs777628634 0.00004
NM_003482.4(KMT2D):c.1134C>T (p.Gly378=) rs376607419 0.00004
NM_003482.4(KMT2D):c.12085G>A (p.Val4029Ile) rs376131669 0.00004
NM_003482.4(KMT2D):c.12205C>T (p.Leu4069Phe) rs774658767 0.00004
NM_003482.4(KMT2D):c.12252T>C (p.Pro4084=) rs375015236 0.00004
NM_003482.4(KMT2D):c.12780A>G (p.Gln4260=) rs555842651 0.00004
NM_003482.4(KMT2D):c.12859C>T (p.Pro4287Ser) rs750203743 0.00004
NM_003482.4(KMT2D):c.12893C>T (p.Thr4298Ile) rs377128722 0.00004
NM_003482.4(KMT2D):c.1296C>T (p.Ala432=) rs547058856 0.00004
NM_003482.4(KMT2D):c.1298C>T (p.Pro433Leu) rs759548512 0.00004
NM_003482.4(KMT2D):c.13259G>A (p.Arg4420Gln) rs375999143 0.00004
NM_003482.4(KMT2D):c.13463A>G (p.Asn4488Ser) rs779247029 0.00004
NM_003482.4(KMT2D):c.13559C>T (p.Pro4520Leu) rs374531508 0.00004
NM_003482.4(KMT2D):c.13951C>T (p.His4651Tyr) rs767232021 0.00004
NM_003482.4(KMT2D):c.14473C>T (p.Arg4825Trp) rs117904191 0.00004
NM_003482.4(KMT2D):c.14519G>A (p.Gly4840Glu) rs1054025123 0.00004
NM_003482.4(KMT2D):c.1463C>T (p.Pro488Leu) rs763729848 0.00004
NM_003482.4(KMT2D):c.1488G>A (p.Pro496=) rs534236560 0.00004
NM_003482.4(KMT2D):c.15085A>C (p.Met5029Leu) rs540734063 0.00004
NM_003482.4(KMT2D):c.15959G>A (p.Arg5320His) rs755920864 0.00004
NM_003482.4(KMT2D):c.1672C>T (p.Pro558Ser) rs587778451 0.00004
NM_003482.4(KMT2D):c.2104C>T (p.Pro702Ser) rs373229483 0.00004
NM_003482.4(KMT2D):c.2368C>T (p.Pro790Ser) rs376911077 0.00004
NM_003482.4(KMT2D):c.3016G>C (p.Gly1006Arg) rs781358154 0.00004
NM_003482.4(KMT2D):c.3049A>G (p.Met1017Val) rs749689227 0.00004
NM_003482.4(KMT2D):c.3161C>T (p.Pro1054Leu) rs758697574 0.00004
NM_003482.4(KMT2D):c.335G>C (p.Ser112Thr) rs748306957 0.00004
NM_003482.4(KMT2D):c.3566G>A (p.Arg1189His) rs1350491800 0.00004
NM_003482.4(KMT2D):c.3819C>T (p.Cys1273=) rs373373098 0.00004
NM_003482.4(KMT2D):c.4006A>G (p.Ile1336Val) rs368451486 0.00004
NM_003482.4(KMT2D):c.4182C>T (p.Leu1394=) rs797045665 0.00004
NM_003482.4(KMT2D):c.5231G>A (p.Ser1744Asn) rs377119237 0.00004
NM_003482.4(KMT2D):c.5892G>A (p.Pro1964=) rs761930376 0.00004
NM_003482.4(KMT2D):c.6323C>T (p.Pro2108Leu) rs774739665 0.00004
NM_003482.4(KMT2D):c.6446C>T (p.Ser2149Leu) rs765486613 0.00004
NM_003482.4(KMT2D):c.6572C>T (p.Thr2191Met) rs572145631 0.00004
NM_003482.4(KMT2D):c.6628C>T (p.Pro2210Ser) rs1324674144 0.00004
NM_003482.4(KMT2D):c.6649C>T (p.Arg2217Cys) rs770789888 0.00004
NM_003482.4(KMT2D):c.6739C>T (p.Pro2247Ser) rs794727547 0.00004
NM_003482.4(KMT2D):c.7129C>T (p.Pro2377Ser) rs750933281 0.00004
NM_003482.4(KMT2D):c.7463C>T (p.Ser2488Leu) rs779629382 0.00004
NM_003482.4(KMT2D):c.7490C>T (p.Ala2497Val) rs376603595 0.00004
NM_003482.4(KMT2D):c.7498G>A (p.Ala2500Thr) rs746638965 0.00004
NM_003482.4(KMT2D):c.7570A>G (p.Thr2524Ala) rs200429932 0.00004
NM_003482.4(KMT2D):c.7571C>T (p.Thr2524Met) rs760263014 0.00004
NM_003482.4(KMT2D):c.7831C>T (p.Arg2611Cys) rs572359740 0.00004
NM_003482.4(KMT2D):c.7852C>T (p.Pro2618Ser) rs752295883 0.00004
NM_003482.4(KMT2D):c.7934G>A (p.Arg2645Gln) rs375980443 0.00004
NM_003482.4(KMT2D):c.9399A>G (p.Gln3133=) rs755154605 0.00004
NM_003482.4(KMT2D):c.9430G>A (p.Ala3144Thr) rs752428122 0.00004
NM_003482.4(KMT2D):c.9499C>T (p.Arg3167Trp) rs370155635 0.00004
NM_003611.3(OFD1):c.1469A>G (p.Glu490Gly) rs754484224 0.00004
NM_003611.3(OFD1):c.2523C>T (p.Gly841=) rs757258869 0.00004
NM_003611.3(OFD1):c.494C>T (p.Ser165Leu) rs756793358 0.00004
NM_003640.5(ELP1):c.2026G>A (p.Gly676Ser) rs537930129 0.00004
NM_003722.5(TP63):c.1465G>A (p.Ala489Thr) rs138832017 0.00004
NM_003738.5(PTCH2):c.2142G>A (p.Thr714=) rs200329309 0.00004
NM_003738.5(PTCH2):c.2372-4C>T rs192320525 0.00004
NM_003850.3(SUCLA2):c.1074A>C (p.Thr358=) rs746516356 0.00004
NM_004168.4(SDHA):c.513T>C (p.Arg171=) rs765157205 0.00004
NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe) rs184474885 0.00004
NM_004239.4(TRIP11):c.4159G>A (p.Glu1387Lys) rs201607866 0.00004
NM_004239.4(TRIP11):c.5169G>A (p.Leu1723=) rs2038276 0.00004
NM_004260.4(RECQL4):c.1959A>G (p.Ala653=) rs574411332 0.00004
NM_004260.4(RECQL4):c.3531C>T (p.Tyr1177=) rs139228543 0.00004
NM_004260.4(RECQL4):c.634C>T (p.Leu212=) rs377012693 0.00004
NM_004273.5(CHST3):c.513A>G (p.Thr171=) rs567771631 0.00004
NM_004333.6(BRAF):c.1150A>G (p.Arg384Gly) rs545495379 0.00004
NM_004370.6(COL12A1):c.3630C>T (p.Ile1210=) rs572531941 0.00004
NM_004370.6(COL12A1):c.3782G>A (p.Ser1261Asn) rs370339027 0.00004
NM_004370.6(COL12A1):c.3861A>G (p.Gln1287=) rs775456285 0.00004
NM_004370.6(COL12A1):c.4275G>T (p.Gly1425=) rs371112796 0.00004
NM_004370.6(COL12A1):c.6345A>G (p.Gly2115=) rs553575841 0.00004
NM_004380.3(CREBBP):c.5666C>T (p.Pro1889Leu) rs143180774 0.00004
NM_004380.3(CREBBP):c.5794A>G (p.Thr1932Ala) rs749249146 0.00004
NM_004380.3(CREBBP):c.5930T>A (p.Ile1977Asn) rs754429038 0.00004
NM_004380.3(CREBBP):c.6433A>G (p.Met2145Val) rs758386187 0.00004
NM_004380.3(CREBBP):c.6678G>A (p.Ala2226=) rs750845399 0.00004
NM_004380.3(CREBBP):c.7089G>A (p.Pro2363=) rs199610814 0.00004
NM_004484.4(GPC3):c.972T>C (p.Phe324=) rs183678432 0.00004
NM_004560.4(ROR2):c.1596A>G (p.Gln532=) rs528393492 0.00004
NM_004560.4(ROR2):c.2277G>A (p.Ala759=) rs369491865 0.00004
NM_004629.2(FANCG):c.77A>G (p.Gln26Arg) rs200677800 0.00004
NM_005027.4(PIK3R2):c.1215C>T (p.Tyr405=) rs200914853 0.00004
NM_005045.4(RELN):c.1320A>G (p.Thr440=) rs376968265 0.00004
NM_005045.4(RELN):c.1690C>A (p.Leu564Ile) rs748901010 0.00004
NM_005045.4(RELN):c.2779A>G (p.Met927Val) rs546154419 0.00004
NM_005219.5(DIAPH1):c.3662-17C>T rs371640300 0.00004
NM_005257.6(GATA6):c.1516+19C>T rs199658633 0.00004
NM_005343.4(HRAS):c.36C>T (p.Gly12=) rs727504424 0.00004
NM_005359.6(SMAD4):c.-401C>T rs555375675 0.00004
NM_005359.6(SMAD4):c.228A>G (p.Arg76=) rs587780556 0.00004
NM_005413.4(SIX3):c.105G>T (p.Gly35=) rs779034696 0.00004
NM_005592.4(MUSK):c.207-5T>C rs779359576 0.00004
NM_005592.4(MUSK):c.2283C>T (p.Asn761=) rs777419932 0.00004
NM_005592.4(MUSK):c.2286C>T (p.Asp762=) rs199832657 0.00004
NM_005629.4(SLC6A8):c.1392+12G>T rs782113493 0.00004
NM_005629.4(SLC6A8):c.1615G>A (p.Val539Ile) rs782354054 0.00004
NM_005629.4(SLC6A8):c.1632G>A (p.Pro544=) rs782393373 0.00004
NM_005629.4(SLC6A8):c.306A>G (p.Gly102=) rs781983557 0.00004
NM_005629.4(SLC6A8):c.975A>C (p.Thr325=) rs782517934 0.00004
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln) rs371314838 0.00004
NM_005633.4(SOS1):c.1621T>C (p.Leu541=) rs371286473 0.00004
NM_005660.3(SLC35A2):c.1062C>T (p.Ser354=) rs142781476 0.00004
NM_005660.3(SLC35A2):c.1145C>T (p.Thr382Met) rs781801728 0.00004
NM_005660.3(SLC35A2):c.8C>T (p.Ala3Val) rs946472167 0.00004
NM_005732.4(RAD50):c.1932G>A (p.Arg644=) rs375978877 0.00004
NM_005751.5(AKAP9):c.11330+7A>G rs781216766 0.00004
NM_005751.5(AKAP9):c.9729+17C>T rs776936265 0.00004
NM_005921.2(MAP3K1):c.3667-7T>C rs117348142 0.00004
NM_005996.4(TBX3):c.-331T>C rs562724016 0.00004
NM_006015.6(ARID1A):c.3870G>A (p.Thr1290=) rs753683399 0.00004
NM_006121.4(KRT1):c.1527C>T (p.His509=) rs371428130 0.00004
NM_006121.4(KRT1):c.45G>A (p.Gly15=) rs549917182 0.00004
NM_006306.4(SMC1A):c.1347A>C (p.Leu449=) rs142531536 0.00004
NM_006306.4(SMC1A):c.3438-3C>T rs782161734 0.00004
NM_006306.4(SMC1A):c.854+17G>A rs781860125 0.00004
NM_006329.4(FBLN5):c.-57G>A rs546827390 0.00004
NM_006494.4(ERF):c.132C>T (p.Gly44=) rs192294053 0.00004
NM_006494.4(ERF):c.514C>T (p.Leu172Phe) rs763588724 0.00004
NM_006567.5(FARS2):c.768A>C (p.Gly256=) rs200003967 0.00004
NM_006939.4(SOS2):c.338C>T (p.Ser113Leu) rs751240491 0.00004
NM_006939.4(SOS2):c.3520G>A (p.Ala1174Thr) rs935249167 0.00004
NM_006939.4(SOS2):c.3553G>T (p.Val1185Leu) rs778368766 0.00004
NM_006939.4(SOS2):c.970-19A>G rs369274700 0.00004
NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg) rs397517231 0.00004
NM_012330.4(KAT6B):c.3106C>A (p.Pro1036Thr) rs764184204 0.00004
NM_012330.4(KAT6B):c.4312G>A (p.Glu1438Lys) rs377275320 0.00004
NM_012330.4(KAT6B):c.4523C>A (p.Pro1508Gln) rs1014954135 0.00004
NM_013275.6(ANKRD11):c.207G>A (p.Glu69=) rs549000119 0.00004
NM_013275.6(ANKRD11):c.5250C>T (p.Thr1750=) rs202126162 0.00004
NM_013275.6(ANKRD11):c.6434C>T (p.Thr2145Ile) rs761862402 0.00004
NM_013275.6(ANKRD11):c.6436A>G (p.Lys2146Glu) rs1283976400 0.00004
NM_013275.6(ANKRD11):c.651G>A (p.Ala217=) rs768461388 0.00004
NM_013275.6(ANKRD11):c.6781G>A (p.Glu2261Lys) rs770262960 0.00004
NM_013275.6(ANKRD11):c.745-20C>T rs371708631 0.00004
NM_014141.6(CNTNAP2):c.3716-6C>G rs77025884 0.00004
NM_014423.4(AFF4):c.1227-11A>G rs746328089 0.00004
NM_014423.4(AFF4):c.783C>T (p.Asp261=) rs200492884 0.00004
NM_014795.4(ZEB2):c.374C>T (p.Thr125Met) rs727504227 0.00004
NM_014795.4(ZEB2):c.395A>G (p.Asn132Ser) rs369622877 0.00004
NM_014795.4(ZEB2):c.768C>T (p.Leu256=) rs370751674 0.00004
NM_014918.5(CHSY1):c.1701C>T (p.Leu567=) rs192677621 0.00004
NM_015272.5(RPGRIP1L):c.3395A>G (p.Gln1132Arg) rs561414163 0.00004
NM_015335.5(MED13L):c.2778C>T (p.Pro926=) rs144357346 0.00004
NM_015335.5(MED13L):c.3435C>T (p.Val1145=) rs568906108 0.00004
NM_015335.5(MED13L):c.5261T>C (p.Val1754Ala) rs373887964 0.00004
NM_015443.4(KANSL1):c.1831G>A (p.Val611Ile) rs202150313 0.00004
NM_015443.4(KANSL1):c.1848+4G>A rs766458949 0.00004
NM_015443.4(KANSL1):c.2414T>C (p.Met805Thr) rs201526313 0.00004
NM_015443.4(KANSL1):c.779G>T (p.Gly260Val) rs758752787 0.00004
NM_016042.4(EXOSC3):c.294T>A (p.Gly98=) rs910605187 0.00004
NM_016204.4(GDF2):c.73C>T (p.Leu25=) rs200760960 0.00004
NM_016277.5(RAB23):c.534T>C (p.Ala178=) rs201820320 0.00004
NM_016464.5(TMEM138):c.387G>A (p.Leu129=) rs553815473 0.00004
NM_017617.5(NOTCH1):c.1120G>A (p.Asp374Asn) rs770729642 0.00004
NM_017617.5(NOTCH1):c.1206G>A (p.Ser402=) rs746848165 0.00004
NM_017617.5(NOTCH1):c.1376A>G (p.Asn459Ser) rs574143345 0.00004
NM_017617.5(NOTCH1):c.1670-10C>T rs751747178 0.00004
NM_017617.5(NOTCH1):c.1864G>A (p.Asp622Asn) rs367873715 0.00004
NM_017617.5(NOTCH1):c.1869C>T (p.Asn623=) rs376726823 0.00004
NM_017617.5(NOTCH1):c.1904-10A>G rs200896186 0.00004
NM_017617.5(NOTCH1):c.2002C>G (p.Pro668Ala) rs780810308 0.00004
NM_017617.5(NOTCH1):c.2576C>T (p.Thr859Met) rs199505287 0.00004
NM_017617.5(NOTCH1):c.3320G>A (p.Arg1107Gln) rs756087913 0.00004
NM_017617.5(NOTCH1):c.3373G>A (p.Ala1125Thr) rs767963898 0.00004
NM_017617.5(NOTCH1):c.3374C>T (p.Ala1125Val) rs200871631 0.00004
NM_017617.5(NOTCH1):c.3483G>A (p.Thr1161=) rs369392246 0.00004
NM_017617.5(NOTCH1):c.3700C>T (p.Arg1234Trp) rs761304479 0.00004
NM_017617.5(NOTCH1):c.3887G>A (p.Arg1296His) rs368400902 0.00004
NM_017617.5(NOTCH1):c.3980A>G (p.Asn1327Ser) rs751874720 0.00004
NM_017617.5(NOTCH1):c.3989G>A (p.Arg1330His) rs1180096756 0.00004
NM_017617.5(NOTCH1):c.4185C>T (p.Asn1395=) rs749570626 0.00004
NM_017617.5(NOTCH1):c.4222G>A (p.Glu1408Lys) rs587778569 0.00004
NM_017617.5(NOTCH1):c.4426G>A (p.Gly1476Ser) rs776133530 0.00004
NM_017617.5(NOTCH1):c.5219C>T (p.Ala1740Val) rs777962754 0.00004
NM_017617.5(NOTCH1):c.540C>T (p.Asn180=) rs760162406 0.00004
NM_017617.5(NOTCH1):c.5542C>A (p.Leu1848Met) rs35652719 0.00004
NM_017617.5(NOTCH1):c.5724C>T (p.Ala1908=) rs555773558 0.00004
NM_017617.5(NOTCH1):c.573C>T (p.His191=) rs763733336 0.00004
NM_017617.5(NOTCH1):c.6120T>C (p.Asn2040=) rs201625763 0.00004
NM_017617.5(NOTCH1):c.6150C>T (p.Asn2050=) rs757372588 0.00004
NM_017617.5(NOTCH1):c.6222C>T (p.Tyr2074=) rs764551640 0.00004
NM_017617.5(NOTCH1):c.6284G>A (p.Arg2095His) rs756874994 0.00004
NM_017617.5(NOTCH1):c.6383C>T (p.Pro2128Leu) rs770713134 0.00004
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg) rs761602495 0.00004
NM_017617.5(NOTCH1):c.6727G>A (p.Gly2243Ser) rs61751491 0.00004
NM_017617.5(NOTCH1):c.7498C>G (p.His2500Asp) rs763902589 0.00004
NM_017617.5(NOTCH1):c.7585G>A (p.Val2529Ile) rs1052013977 0.00004
NM_017617.5(NOTCH1):c.7653G>A (p.Pro2551=) rs759443061 0.00004
NM_017617.5(NOTCH1):c.825C>T (p.Gly275=) rs61751556 0.00004
NM_017777.4(MKS1):c.1014G>A (p.Leu338=) rs201998680 0.00004
NM_017780.4(CHD7):c.1029C>T (p.Ser343=) rs570815501 0.00004
NM_017780.4(CHD7):c.1175C>T (p.Ser392Phe) rs373112189 0.00004
NM_017780.4(CHD7):c.1727C>T (p.Pro576Leu) rs746633621 0.00004
NM_017780.4(CHD7):c.2498+12G>T rs557099951 0.00004
NM_017780.4(CHD7):c.3613A>G (p.Ile1205Val) rs751726519 0.00004
NM_017780.4(CHD7):c.361G>A (p.Gly121Ser) rs587783439 0.00004
NM_017780.4(CHD7):c.4859G>A (p.Arg1620Gln) rs768497646 0.00004
NM_017780.4(CHD7):c.5115G>A (p.Pro1705=) rs191081055 0.00004
NM_017780.4(CHD7):c.521C>T (p.Pro174Leu) rs767279224 0.00004
NM_017780.4(CHD7):c.524C>T (p.Ser175Leu) rs370305211 0.00004
NM_017780.4(CHD7):c.5440G>A (p.Ala1814Thr) rs368609862 0.00004
NM_017780.4(CHD7):c.5665+11A>G rs765928233 0.00004
NM_017780.4(CHD7):c.5697C>G (p.Gly1899=) rs528130317 0.00004
NM_017780.4(CHD7):c.5858C>T (p.Ala1953Val) rs748578338 0.00004
NM_017780.4(CHD7):c.6255G>T (p.Leu2085Phe) rs561398606 0.00004
NM_017780.4(CHD7):c.6278G>A (p.Cys2093Tyr) rs766776212 0.00004
NM_017780.4(CHD7):c.6293G>A (p.Arg2098Gln) rs375199214 0.00004
NM_017780.4(CHD7):c.6571G>A (p.Glu2191Lys) rs727503867 0.00004
NM_017780.4(CHD7):c.6589G>A (p.Asp2197Asn) rs772379262 0.00004
NM_017780.4(CHD7):c.6694A>G (p.Ile2232Val) rs1329751221 0.00004
NM_017780.4(CHD7):c.7253G>A (p.Arg2418Gln) rs761410781 0.00004
NM_017780.4(CHD7):c.7283G>A (p.Arg2428Gln) rs563360548 0.00004
NM_017780.4(CHD7):c.7848G>A (p.Leu2616=) rs188188906 0.00004
NM_017780.4(CHD7):c.8595G>A (p.Ser2865=) rs757002335 0.00004
NM_018026.4(PACS1):c.2404A>G (p.Met802Val) rs754776375 0.00004
NM_018062.4(FANCL):c.375-15T>C rs767038810 0.00004
NM_018062.4(FANCL):c.739A>G (p.Met247Val) rs561027973 0.00004
NM_018062.4(FANCL):c.755T>G (p.Phe252Cys) rs139801716 0.00004
NM_018127.7(ELAC2):c.1424-16A>G rs149112672 0.00004
NM_018127.7(ELAC2):c.2108+14G>A rs199942266 0.00004
NM_018486.3(HDAC8):c.522C>T (p.Tyr174=) rs146015223 0.00004
NM_020529.3(NFKBIA):c.906+20C>T rs368801300 0.00004
NM_020751.3(COG6):c.939T>C (p.Ala313=) rs550755756 0.00004
NM_020779.4(WDR35):c.1053T>C (p.Pro351=) rs74385826 0.00004
NM_020964.3(EPG5):c.6939C>T (p.Cys2313=) rs774873040 0.00004
NM_020975.6(RET):c.1118C>T (p.Ala373Val) rs546866208 0.00004
NM_020975.6(RET):c.2427C>T (p.Tyr809=) rs577929869 0.00004
NM_020975.6(RET):c.2976G>A (p.Pro992=) rs528823385 0.00004
NM_020975.6(RET):c.693C>T (p.Arg231=) rs576806329 0.00004
NM_021625.5(TRPV4):c.1074C>T (p.Pro358=) rs140040335 0.00004
NM_021625.5(TRPV4):c.936G>A (p.Ala312=) rs202084699 0.00004
NM_021830.5(TWNK):c.1953G>A (p.Lys651=) rs771310512 0.00004
NM_021830.5(TWNK):c.672T>C (p.Ala224=) rs368863664 0.00004
NM_021922.3(FANCE):c.1509C>T (p.Asn503=) rs147166240 0.00004
NM_022168.4(IFIH1):c.2304+20C>T rs561559397 0.00004
NM_022336.4(EDAR):c.-18-14C>T rs532111960 0.00004
NM_022455.5(NSD1):c.3330C>T (p.Phe1110=) rs541077303 0.00004
NM_022455.5(NSD1):c.708G>C (p.Gln236His) rs28932175 0.00004
NM_022455.5(NSD1):c.7145C>T (p.Thr2382Ile) rs148027433 0.00004
NM_022552.5(DNMT3A):c.2652G>A (p.Ala884=) rs537647207 0.00004
NM_023110.3(FGFR1):c.1176G>A (p.Gly392=) rs56273573 0.00004
NM_023110.3(FGFR1):c.449-8C>A rs551551806 0.00004
NM_023110.3(FGFR1):c.92-14C>T rs547772178 0.00004
NM_024009.3(GJB3):c.61G>A (p.Gly21Arg) rs749654470 0.00004
NM_024009.3(GJB3):c.647G>A (p.Arg216Gln) rs751280813 0.00004
NM_024426.6(WT1):c.513C>A (p.Gly171=) rs536728682 0.00004
NM_024426.6(WT1):c.965+14T>C rs369920807 0.00004
NM_024757.5(EHMT1):c.1204G>A (p.Val402Met) rs369984436 0.00004
NM_024757.5(EHMT1):c.1360G>A (p.Gly454Ser) rs774046148 0.00004
NM_024757.5(EHMT1):c.1412C>T (p.Thr471Met) rs368319087 0.00004
NM_024757.5(EHMT1):c.2596G>A (p.Val866Ile) rs749645029 0.00004
NM_024757.5(EHMT1):c.3035+6C>G rs752797201 0.00004
NM_024757.5(EHMT1):c.3377C>T (p.Ala1126Val) rs560251933 0.00004
NM_024757.5(EHMT1):c.3401G>A (p.Arg1134Gln) rs373174786 0.00004
NM_024757.5(EHMT1):c.499G>A (p.Ala167Thr) rs141282876 0.00004
NM_024757.5(EHMT1):c.512C>T (p.Thr171Met) rs374127714 0.00004
NM_024757.5(EHMT1):c.529G>C (p.Ala177Pro) rs182595609 0.00004
NM_024757.5(EHMT1):c.589G>A (p.Asp197Asn) rs774174988 0.00004
NM_024757.5(EHMT1):c.596A>G (p.Lys199Arg) rs553376740 0.00004
NM_024757.5(EHMT1):c.770A>C (p.His257Pro) rs370539232 0.00004
NM_030632.3(ASXL3):c.1654C>T (p.His552Tyr) rs200334892 0.00004
NM_032043.3(BRIP1):c.1935+7T>C rs201024366 0.00004
NM_032444.4(SLX4):c.489T>G (p.Gly163=) rs201211891 0.00004
NM_032444.4(SLX4):c.5372G>A (p.Arg1791His) rs560381786 0.00004
NM_032634.4(PIGO):c.2198G>A (p.Arg733Gln) rs373305585 0.00004
NM_032861.4(SERAC1):c.1152C>G (p.Pro384=) rs201331072 0.00004
NM_032861.4(SERAC1):c.999T>C (p.Ser333=) rs746668292 0.00004
NM_033159.4(HYAL1):c.419A>G (p.Asn140Ser) rs587637619 0.00004
NM_052854.4(CREB3L1):c.1325T>G (p.Leu442Arg) rs544539212 0.00004
NM_078480.3(PUF60):c.297+9C>T rs1028726810 0.00004
NM_080632.3(UPF3B):c.807+19T>C rs750984351 0.00004
NM_080680.3(COL11A2):c.191G>A (p.Arg64Gln) rs374898022 0.00004
NM_080680.3(COL11A2):c.622C>T (p.Leu208=) rs200272494 0.00004
NM_130837.3(OPA1):c.253C>T (p.Arg85Cys) rs372435892 0.00004
NM_133433.4(NIPBL):c.1376T>G (p.Ile459Arg) rs150837768 0.00004
NM_133433.4(NIPBL):c.3503-7G>A rs747762848 0.00004
NM_133433.4(NIPBL):c.4906C>T (p.Arg1636Cys) rs149451089 0.00004
NM_139057.4(ADAMTS17):c.1840C>T (p.Arg614Trp) rs200745301 0.00004
NM_147127.5(EVC2):c.1040C>T (p.Pro347Leu) rs199708349 0.00004
NM_147127.5(EVC2):c.1146-5C>G rs746188195 0.00004
NM_147127.5(EVC2):c.3024G>A (p.Ser1008=) rs372719753 0.00004
NM_152383.5(DIS3L2):c.2244C>T (p.Arg748=) rs745415974 0.00004
NM_152564.5(VPS13B):c.10310C>T (p.Ser3437Phe) rs200268089 0.00004
NM_152564.5(VPS13B):c.10932C>T (p.Asn3644=) rs745337140 0.00004
NM_152564.5(VPS13B):c.1425+9G>A rs551460373 0.00004
NM_152564.5(VPS13B):c.2825-4T>A rs201354177 0.00004
NM_152564.5(VPS13B):c.7675G>T (p.Val2559Leu) rs144668374 0.00004
NM_152594.3(SPRED1):c.32+20C>T rs374284804 0.00004
NM_152594.3(SPRED1):c.634G>A (p.Val212Ile) rs769630742 0.00004
NM_153490.3(KRT13):c.869G>A (p.Arg290Gln) rs535020030 0.00004
NM_153603.4(COG7):c.687+7A>C rs199964250 0.00004
NM_153717.3(EVC):c.1269G>A (p.Thr423=) rs551881521 0.00004
NM_181486.4(TBX5):c.1425C>G (p.Gly475=) rs199729532 0.00004
NM_181486.4(TBX5):c.791G>A (p.Arg264Lys) rs201071418 0.00004
NM_198253.3(TERT):c.2580C>T (p.Asp860=) rs751752830 0.00004
NM_206937.2(LIG4):c.34T>A (p.Ser12Thr) rs554949695 0.00004
NM_000020.3(ACVRL1):c.1161G>A (p.Thr387=) rs150140878 0.00003
NM_000044.6(AR):c.1723C>G (p.Leu575Val) rs376443652 0.00003
NM_000044.6(AR):c.2659A>G (p.Met887Val) rs755226547 0.00003
NM_000052.7(ATP7A):c.1522C>T (p.Arg508Trp) rs782603364 0.00003
NM_000052.7(ATP7A):c.1734C>T (p.Cys578=) rs72554638 0.00003
NM_000052.7(ATP7A):c.2111A>G (p.Gln704Arg) rs782577253 0.00003
NM_000052.7(ATP7A):c.2406+15G>C rs782547388 0.00003
NM_000052.7(ATP7A):c.2406+18G>A rs1243579823 0.00003
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser) rs782774219 0.00003
NM_000052.7(ATP7A):c.849T>C (p.Ile283=) rs782773745 0.00003
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln) rs756467921 0.00003
NM_000075.4(CDK4):c.423G>C (p.Leu141=) rs760242081 0.00003
NM_000075.4(CDK4):c.522+8G>A rs758294834 0.00003
NM_000075.4(CDK4):c.549C>T (p.Pro183=) rs778696237 0.00003
NM_000075.4(CDK4):c.753C>G (p.Pro251=) rs757333818 0.00003
NM_000075.4(CDK4):c.84T>C (p.Ser28=) rs763203404 0.00003
NM_000075.4(CDK4):c.870G>C (p.Leu290=) rs1299338481 0.00003
NM_000088.4(COL1A1):c.*1265C>T rs567249120 0.00003
NM_000088.4(COL1A1):c.1272C>T (p.Gly424=) rs765154255 0.00003
NM_000088.4(COL1A1):c.1412C>G (p.Ala471Gly) rs978893604 0.00003
NM_000088.4(COL1A1):c.229G>A (p.Glu77Lys) rs753683126 0.00003
NM_000088.4(COL1A1):c.2779C>T (p.Pro927Ser) rs756537503 0.00003
NM_000088.4(COL1A1):c.3000G>C (p.Met1000Ile) rs769158560 0.00003
NM_000088.4(COL1A1):c.3665A>G (p.Asn1222Ser) rs751784955 0.00003
NM_000089.4(COL1A2):c.3754A>G (p.Thr1252Ala) rs761465504 0.00003
NM_000089.4(COL1A2):c.694-15T>C rs779799840 0.00003
NM_000090.4(COL3A1):c.1347C>T (p.Arg449=) rs755731385 0.00003
NM_000090.4(COL3A1):c.3132C>T (p.Gly1044=) rs369992399 0.00003
NM_000093.5(COL5A1):c.1075G>A (p.Glu359Lys) rs769752636 0.00003
NM_000093.5(COL5A1):c.1114G>A (p.Ala372Thr) rs755289850 0.00003
NM_000093.5(COL5A1):c.1252G>C (p.Asp418His) rs767752804 0.00003
NM_000093.5(COL5A1):c.1270A>G (p.Thr424Ala) rs535363331 0.00003
NM_000093.5(COL5A1):c.1304C>T (p.Pro435Leu) rs772379819 0.00003
NM_000093.5(COL5A1):c.2042G>A (p.Arg681His) rs371580094 0.00003
NM_000093.5(COL5A1):c.2415C>T (p.Gly805=) rs769239532 0.00003
NM_000093.5(COL5A1):c.2726G>A (p.Arg909Gln) rs747046727 0.00003
NM_000093.5(COL5A1):c.2905C>G (p.Pro969Ala) rs759627305 0.00003
NM_000093.5(COL5A1):c.2991C>T (p.Gly997=) rs766208976 0.00003
NM_000093.5(COL5A1):c.3086C>T (p.Pro1029Leu) rs768531108 0.00003
NM_000093.5(COL5A1):c.3303C>T (p.Ile1101=) rs760754491 0.00003
NM_000093.5(COL5A1):c.3428C>T (p.Pro1143Leu) rs540131206 0.00003
NM_000093.5(COL5A1):c.3770G>A (p.Arg1257Gln) rs141768094 0.00003
NM_000093.5(COL5A1):c.3788C>T (p.Pro1263Leu) rs140244245 0.00003
NM_000093.5(COL5A1):c.3864C>T (p.Gly1288=) rs551695730 0.00003
NM_000093.5(COL5A1):c.3887C>T (p.Pro1296Leu) rs771130127 0.00003
NM_000093.5(COL5A1):c.4111C>G (p.Pro1371Ala) rs749162303 0.00003
NM_000093.5(COL5A1):c.4192G>A (p.Ala1398Thr) rs759464073 0.00003
NM_000093.5(COL5A1):c.4240G>A (p.Gly1414Ser) rs776709663 0.00003
NM_000093.5(COL5A1):c.4697C>T (p.Pro1566Leu) rs375540141 0.00003
NM_000093.5(COL5A1):c.4880G>A (p.Arg1627Gln) rs761802703 0.00003
NM_000093.5(COL5A1):c.4909C>T (p.Arg1637Cys) rs753433375 0.00003
NM_000093.5(COL5A1):c.5041G>A (p.Val1681Ile) rs764763703 0.00003
NM_000093.5(COL5A1):c.5371-15C>T rs369764872 0.00003
NM_000093.5(COL5A1):c.660C>G (p.Asp220Glu) rs570691491 0.00003
NM_000093.5(COL5A1):c.700T>C (p.Tyr234His) rs757434449 0.00003
NM_000093.5(COL5A1):c.739G>A (p.Ala247Thr) rs769115550 0.00003
NM_000116.5(TAFAZZIN):c.761C>T (p.Ala254Val) rs200909606 0.00003
NM_000136.3(FANCC):c.906C>G (p.Leu302=) rs766079351 0.00003
NM_000147.5(FUCA1):c.67G>C (p.Gly23Arg) rs551560114 0.00003
NM_000168.6(GLI3):c.1462G>A (p.Ala488Thr) rs756581886 0.00003
NM_000168.6(GLI3):c.1485G>A (p.Glu495=) rs149248727 0.00003
NM_000168.6(GLI3):c.294G>A (p.Ala98=) rs758453658 0.00003
NM_000168.6(GLI3):c.2960A>G (p.Tyr987Cys) rs777313061 0.00003
NM_000168.6(GLI3):c.3149C>T (p.Thr1050Met) rs146556791 0.00003
NM_000168.6(GLI3):c.368-7T>G rs74376818 0.00003
NM_000168.6(GLI3):c.4180C>T (p.Arg1394Cys) rs577664817 0.00003
NM_000168.6(GLI3):c.783C>T (p.Ala261=) rs748769754 0.00003
NM_000168.6(GLI3):c.789G>A (p.Thr263=) rs199918341 0.00003
NM_000181.4(GUSB):c.633C>T (p.Tyr211=) rs140278510 0.00003
NM_000183.3(HADHB):c.135G>A (p.Thr45=) rs574464531 0.00003
NM_000193.4(SHH):c.825G>A (p.Ala275=) rs587778813 0.00003
NM_000199.5(SGSH):c.633C>A (p.Thr211=) rs187147954 0.00003
NM_000202.8(IDS):c.684A>G (p.Pro228=) rs782561677 0.00003
NM_000214.3(JAG1):c.1797T>C (p.Cys599=) rs746760284 0.00003
NM_000214.3(JAG1):c.2114-18T>C rs766999933 0.00003
NM_000214.3(JAG1):c.3141G>A (p.Ser1047=) rs202075581 0.00003
NM_000218.3(KCNQ1):c.1944C>T (p.Val648=) rs201698592 0.00003
NM_000218.3(KCNQ1):c.675G>A (p.Ser225=) rs148566141 0.00003
NM_000238.4(KCNH2):c.1128+13C>T rs576438427 0.00003
NM_000238.4(KCNH2):c.1887C>T (p.Asn629=) rs41307295 0.00003
NM_000238.4(KCNH2):c.3153-4C>T rs181119727 0.00003
NM_000256.3(MYBPC3):c.3315C>A (p.Ala1105=) rs200372325 0.00003
NM_000264.5(PTCH1):c.*153T>C rs576864680 0.00003
NM_000264.5(PTCH1):c.107C>G (p.Thr36Arg) rs1449765833 0.00003
NM_000264.5(PTCH1):c.123T>C (p.Arg41=) rs368070922 0.00003
NM_000264.5(PTCH1):c.1348-4G>A rs772826555 0.00003
NM_000264.5(PTCH1):c.1989G>C (p.Gln663His) rs753002023 0.00003
NM_000264.5(PTCH1):c.3192G>A (p.Thr1064=) rs751797047 0.00003
NM_000264.5(PTCH1):c.3240C>T (p.Ala1080=) rs200347952 0.00003
NM_000264.5(PTCH1):c.3390C>T (p.Ala1130=) rs762637887 0.00003
NM_000264.5(PTCH1):c.3634G>A (p.Gly1212Ser) rs559827048 0.00003
NM_000264.5(PTCH1):c.3739G>A (p.Ala1247Thr) rs369966295 0.00003
NM_000264.5(PTCH1):c.3758A>G (p.Gln1253Arg) rs146390067 0.00003
NM_000264.5(PTCH1):c.379G>A (p.Glu127Lys) rs774822170 0.00003
NM_000264.5(PTCH1):c.3808G>A (p.Val1270Ile) rs938997251 0.00003
NM_000264.5(PTCH1):c.3881C>T (p.Pro1294Leu) rs767166469 0.00003
NM_000264.5(PTCH1):c.3890G>A (p.Arg1297Gln) rs386833412 0.00003
NM_000264.5(PTCH1):c.4012C>T (p.Arg1338Cys) rs374346190 0.00003
NM_000264.5(PTCH1):c.4140C>T (p.Ala1380=) rs752595145 0.00003
NM_000284.4(PDHA1):c.390C>T (p.Ser130=) rs756138817 0.00003
NM_000284.4(PDHA1):c.69G>A (p.Val23=) rs770667770 0.00003
NM_000287.4(PEX6):c.1207G>A (p.Asp403Asn) rs535326039 0.00003
NM_000287.4(PEX6):c.2806+14C>T rs544074442 0.00003
NM_000302.4(PLOD1):c.509A>T (p.Glu170Val) rs554232128 0.00003
NM_000314.8(PTEN):c.-799G>C rs587779992 0.00003
NM_000314.8(PTEN):c.1061C>A (p.Pro354Gln) rs375709098 0.00003
NM_000346.4(SOX9):c.920C>G (p.Pro307Arg) rs202028563 0.00003
NM_000368.5(TSC1):c.1218C>T (p.Tyr406=) rs373465241 0.00003
NM_000393.5(COL5A2):c.1073C>T (p.Ala358Val) rs886039197 0.00003
NM_000393.5(COL5A2):c.1463A>G (p.His488Arg) rs149305351 0.00003
NM_000393.5(COL5A2):c.2711C>T (p.Pro904Leu) rs189320512 0.00003
NM_000393.5(COL5A2):c.4402A>G (p.Asn1468Asp) rs756550702 0.00003
NM_000431.4(MVK):c.258G>A (p.Glu86=) rs139299227 0.00003
NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe) rs375576481 0.00003
NM_000475.5(NR0B1):c.1176G>A (p.Pro392=) rs778616722 0.00003
NM_000489.6(ATRX):c.2009C>T (p.Thr670Ile) rs781797239 0.00003
NM_000489.6(ATRX):c.2150C>T (p.Pro717Leu) rs372617572 0.00003
NM_000489.6(ATRX):c.2225G>C (p.Ser742Thr) rs1340328179 0.00003
NM_000489.6(ATRX):c.227C>T (p.Ser76Leu) rs782664370 0.00003
NM_000489.6(ATRX):c.2329G>C (p.Gly777Arg) rs1411348345 0.00003
NM_000489.6(ATRX):c.2581G>A (p.Asp861Asn) rs782629714 0.00003
NM_000489.6(ATRX):c.2696C>T (p.Thr899Met) rs782757975 0.00003
NM_000489.6(ATRX):c.3224A>G (p.Asp1075Gly) rs1064796745 0.00003
NM_000489.6(ATRX):c.3888A>G (p.Pro1296=) rs139540415 0.00003
NM_000489.6(ATRX):c.4207A>G (p.Arg1403Gly) rs782464685 0.00003
NM_000489.6(ATRX):c.4557+19C>T rs781857296 0.00003
NM_000489.6(ATRX):c.5073A>G (p.Gln1691=) rs781845474 0.00003
NM_000489.6(ATRX):c.5786+20G>A rs782150691 0.00003
NM_000489.6(ATRX):c.595-17C>G rs782473887 0.00003
NM_000489.6(ATRX):c.6024T>C (p.Asp2008=) rs782159753 0.00003
NM_000489.6(ATRX):c.7011A>G (p.Glu2337=) rs782078102 0.00003
NM_000489.6(ATRX):c.7113G>A (p.Ala2371=) rs782703242 0.00003
NM_000493.4(COL10A1):c.772C>T (p.Arg258Ter) rs765628474 0.00003
NM_000501.4(ELN):c.1404C>T (p.Ala468=) rs189952915 0.00003
NM_000501.4(ELN):c.470-5G>A rs368292481 0.00003
NM_000503.6(EYA1):c.*1890A>G rs377092983 0.00003
NM_000503.6(EYA1):c.*556A>G rs553030149 0.00003
NM_000553.6(WRN):c.2342C>T (p.Thr781Ile) rs17847568 0.00003
NM_000719.7(CACNA1C):c.3948C>T (p.Asn1316=) rs150092451 0.00003
NM_000719.7(CACNA1C):c.5343C>T (p.Pro1781=) rs374858814 0.00003
NM_000719.7(CACNA1C):c.5387C>T (p.Pro1796Leu) rs199999203 0.00003
NM_000891.3(KCNJ2):c.225G>A (p.Thr75=) rs192172778 0.00003
NM_000965.5(RARB):c.960C>A (p.Gly320=) rs775637491 0.00003
NM_001018113.3(FANCB):c.1638A>T (p.Gly546=) rs753355273 0.00003
NM_001018113.3(FANCB):c.1987A>G (p.Thr663Ala) rs184796918 0.00003
NM_001018113.3(FANCB):c.2435A>G (p.Tyr812Cys) rs780116069 0.00003
NM_001024630.4(RUNX2):c.*3426C>T rs534970370 0.00003
NM_001042492.3(NF1):c.*4T>C rs201044568 0.00003
NM_001042492.3(NF1):c.1975C>T (p.Arg659Trp) rs757512142 0.00003
NM_001042492.3(NF1):c.2570A>G (p.Asn857Ser) rs1060500299 0.00003
NM_001042492.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954 0.00003
NM_001042492.3(NF1):c.2821A>G (p.Ile941Val) rs876659888 0.00003
NM_001042492.3(NF1):c.4185G>T (p.Gln1395His) rs775206746 0.00003
NM_001042492.3(NF1):c.67A>G (p.Ile23Val) rs542824372 0.00003
NM_001042492.3(NF1):c.696A>G (p.Thr232=) rs368691517 0.00003
NM_001044385.3(TMEM237):c.396-13G>A rs570600190 0.00003
NM_001079872.2(CUL4B):c.1797C>T (p.Val599=) rs751833365 0.00003
NM_001083962.2(TCF4):c.1486+4G>C rs201274415 0.00003
NM_001083962.2(TCF4):c.903C>T (p.Asn301=) rs781392344 0.00003
NM_001101.5(ACTB):c.96C>T (p.Pro32=) rs755754152 0.00003
NM_001104631.2(PDE4D):c.2401G>A (p.Val801Ile) rs747415773 0.00003
NM_001104631.2(PDE4D):c.705T>C (p.Thr235=) rs199590419 0.00003
NM_001106.4(ACVR2B):c.771C>T (p.Leu257=) rs527396511 0.00003
NM_001114753.3(ENG):c.1093G>A (p.Asp365Asn) rs548690138 0.00003
NM_001114753.3(ENG):c.593C>T (p.Pro198Leu) rs777633247 0.00003
NM_001114753.3(ENG):c.627G>C (p.Leu209Phe) rs763087751 0.00003
NM_001114753.3(ENG):c.69T>C (p.Ser23=) rs202048202 0.00003
NM_001122681.2(SH3BP2):c.606G>A (p.Pro202=) rs775926639 0.00003
NM_001128225.3(SLC39A13):c.930T>C (p.Ser310=) rs371311030 0.00003
NM_001148.6(ANK2):c.10707C>T (p.Ile3569=) rs539298479 0.00003
NM_001148.6(ANK2):c.1881+9C>A rs200659747 0.00003
NM_001148.6(ANK2):c.2548+18T>C rs200150276 0.00003
NM_001173990.3(TMEM216):c.*303C>T rs144613667 0.00003
NM_001174147.2(LMX1B):c.552C>T (p.Ser184=) rs142488434 0.00003
NM_001202.6(BMP4):c.450C>T (p.Asn150=) rs767216159 0.00003
NM_001254.4(CDC6):c.1512A>G (p.Ser504=) rs4135031 0.00003
NM_001291415.2(KDM6A):c.2637A>G (p.Thr879=) rs774419812 0.00003
NM_001291415.2(KDM6A):c.654+18T>C rs761988382 0.00003
NM_001291867.2(NHS):c.2047G>A (p.Val683Met) rs587780403 0.00003
NM_001291867.2(NHS):c.2732A>G (p.Glu911Gly) rs189687959 0.00003
NM_001308093.3(GATA4):c.1067C>G (p.Thr356Ser) rs200167770 0.00003
NM_001308093.3(GATA4):c.1183C>A (p.Pro395Thr) rs200319078 0.00003
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn) rs56208331 0.00003
NM_001308093.3(GATA4):c.787-16G>A rs201533584 0.00003
NM_001330078.2(NRXN1):c.3403A>G (p.Ile1135Val) rs765360600 0.00003
NM_001330078.2(NRXN1):c.600C>T (p.Gly200=) rs201481698 0.00003
NM_001347721.2(DYRK1A):c.1247A>C (p.Asn416Thr) rs777063595 0.00003
NM_001347721.2(DYRK1A):c.1853G>A (p.Arg618Gln) rs761460441 0.00003
NM_001347721.2(DYRK1A):c.638-3C>T rs779620187 0.00003
NM_001347721.2(DYRK1A):c.818G>A (p.Ser273Asn) rs758888181 0.00003
NM_001354604.2(MITF):c.1569G>A (p.Glu523=) rs200830148 0.00003
NM_001365951.3(KIF1B):c.*2012C>T rs181454124 0.00003
NM_001365951.3(KIF1B):c.*2321A>G rs567547345 0.00003
NM_001365999.1(SZT2):c.1584C>T (p.Ser528=) rs373399099 0.00003
NM_001367561.1(DOCK7):c.2985T>A (p.Val995=) rs188467262 0.00003
NM_001368809.2(AMPD2):c.-52C>G rs570541266 0.00003
NM_001368894.2(PAX6):c.1166C>A (p.Pro389Gln) rs200015827 0.00003
NM_001368894.2(PAX6):c.959-7C>T rs750093295 0.00003
NM_001370259.2(MEN1):c.1071C>T (p.Asp357=) rs371964966 0.00003
NM_001370259.2(MEN1):c.1074G>A (p.Glu358=) rs776834299 0.00003
NM_001370259.2(MEN1):c.1170G>A (p.Pro390=) rs587780841 0.00003
NM_001370259.2(MEN1):c.1479G>A (p.Pro493=) rs546721780 0.00003
NM_001370259.2(MEN1):c.1740G>C (p.Thr580=) rs1114167530 0.00003
NM_001370259.2(MEN1):c.315C>G (p.Leu105=) rs1238374960 0.00003
NM_001370259.2(MEN1):c.471G>A (p.Val157=) rs878855194 0.00003
NM_001370259.2(MEN1):c.474C>T (p.Ala158=) rs772526802 0.00003
NM_001370259.2(MEN1):c.525C>T (p.Leu175=) rs200155578 0.00003
NM_001370259.2(MEN1):c.759G>A (p.Ser253=) rs201829546 0.00003
NM_001370259.2(MEN1):c.760C>T (p.Leu254=) rs1194394888 0.00003
NM_001370259.2(MEN1):c.808C>T (p.Leu270=) rs371556177 0.00003
NM_001374353.1(GLI2):c.-1G>C rs369138377 0.00003
NM_001379200.1(TBX1):c.1052G>A (p.Arg351Gln) rs549715785 0.00003
NM_001379200.1(TBX1):c.540-17A>C rs750770662 0.00003
NM_001379200.1(TBX1):c.540-7G>A rs372179395 0.00003
NM_001379286.1(ZNF423):c.2268G>T (p.Lys756Asn) rs750555513 0.00003
NM_001399.5(EDA):c.1014G>A (p.Thr338=) rs750674219 0.00003
NM_001399.5(EDA):c.1098C>T (p.His366=) rs1322090620 0.00003
NM_001399.5(EDA):c.1124A>G (p.Lys375Arg) rs750739438 0.00003
NM_001399.5(EDA):c.277C>T (p.Leu93Phe) rs746479442 0.00003
NM_001429.4(EP300):c.1302C>T (p.Pro434=) rs199901345 0.00003
NM_001429.4(EP300):c.2393G>A (p.Ser798Asn) rs781326261 0.00003
NM_001429.4(EP300):c.2594C>T (p.Thr865Ile) rs754168978 0.00003
NM_001429.4(EP300):c.2744G>A (p.Arg915His) rs748820220 0.00003
NM_001429.4(EP300):c.6413C>T (p.Ala2138Val) rs587778258 0.00003
NM_001429.4(EP300):c.7018G>A (p.Val2340Ile) rs558456063 0.00003
NM_001429.4(EP300):c.923C>T (p.Pro308Leu) rs587778261 0.00003
NM_001429.4(EP300):c.952C>G (p.Pro318Ala) rs762647727 0.00003
NM_001614.5(ACTG1):c.1095G>A (p.Ser365=) rs201121917 0.00003
NM_001614.5(ACTG1):c.693A>G (p.Ala231=) rs534061526 0.00003
NM_001614.5(ACTG1):c.909C>T (p.Thr303=) rs187127467 0.00003
NM_001626.6(AKT2):c.666C>T (p.His222=) rs199761368 0.00003
NM_001985.3(ETFB):c.217-4G>T rs149557388 0.00003
NM_001985.3(ETFB):c.618C>T (p.Ile206=) rs533794107 0.00003
NM_001999.4(FBN2):c.1423G>A (p.Gly475Ser) rs200440156 0.00003
NM_001999.4(FBN2):c.1424G>T (p.Gly475Val) rs56312356 0.00003
NM_001999.4(FBN2):c.2249-12T>C rs776314725 0.00003
NM_001999.4(FBN2):c.2258A>G (p.His753Arg) rs777266350 0.00003
NM_001999.4(FBN2):c.244G>A (p.Val82Met) rs550387143 0.00003
NM_001999.4(FBN2):c.2943G>T (p.Glu981Asp) rs142249689 0.00003
NM_001999.4(FBN2):c.3093G>A (p.Ala1031=) rs528529593 0.00003
NM_001999.4(FBN2):c.3820C>T (p.Leu1274=) rs192602314 0.00003
NM_001999.4(FBN2):c.5191A>G (p.Asn1731Asp) rs1476723489 0.00003
NM_001999.4(FBN2):c.5353+11G>A rs572393472 0.00003
NM_001999.4(FBN2):c.5814C>T (p.Cys1938=) rs753556200 0.00003
NM_001999.4(FBN2):c.5966G>A (p.Arg1989His) rs189964478 0.00003
NM_001999.4(FBN2):c.6007G>A (p.Glu2003Lys) rs995323393 0.00003
NM_001999.4(FBN2):c.6505C>T (p.Arg2169Cys) rs1450302477 0.00003
NM_001999.4(FBN2):c.733C>T (p.Arg245Trp) rs146941428 0.00003
NM_001999.4(FBN2):c.7525A>G (p.Thr2509Ala) rs752627315 0.00003
NM_001999.4(FBN2):c.8332A>C (p.Lys2778Gln) rs371715068 0.00003
NM_001999.4(FBN2):c.8644G>C (p.Glu2882Gln) rs765693576 0.00003
NM_002076.4(GNS):c.1155C>A (p.Asp385Glu) rs755021062 0.00003
NM_002181.4(IHH):c.909C>T (p.Tyr303=) rs758078057 0.00003
NM_002272.4(KRT4):c.835-4G>T rs767441876 0.00003
NM_002272.4(KRT4):c.983C>T (p.Ala328Val) rs749943854 0.00003
NM_002334.4(LRP4):c.431-8C>T rs150531536 0.00003
NM_002449.5(MSX2):c.-42C>T rs758437365 0.00003
NM_002465.4(MYBPC1):c.557-10C>T rs529365953 0.00003
NM_002465.4(MYBPC1):c.750C>A (p.Ile250=) rs761503353 0.00003
NM_002470.4(MYH3):c.3139G>A (p.Val1047Ile) rs542491960 0.00003
NM_002617.4(PEX10):c.435G>A (p.Met145Ile) rs368273118 0.00003
NM_002641.4(PIGA):c.120C>T (p.Asp40=) rs200475470 0.00003
NM_002641.4(PIGA):c.1421G>T (p.Gly474Val) rs142772459 0.00003
NM_002641.4(PIGA):c.92G>A (p.Arg31His) rs758863767 0.00003
NM_002834.5(PTPN11):c.*3381A>G rs374962107 0.00003
NM_002834.5(PTPN11):c.824A>C (p.Asn275Thr) rs397507528 0.00003
NM_002968.3(SALL1):c.39A>G (p.Gln13=) rs768989589 0.00003
NM_003036.4(SKI):c.1272G>A (p.Pro424=) rs552946737 0.00003
NM_003036.4(SKI):c.1573G>A (p.Val525Ile) rs141961299 0.00003
NM_003070.5(SMARCA2):c.4247G>C (p.Gly1416Ala) rs3793510 0.00003
NM_003070.5(SMARCA2):c.4257A>C (p.Ser1419=) rs547998868 0.00003
NM_003072.5(SMARCA4):c.223-7C>G rs762146990 0.00003
NM_003072.5(SMARCA4):c.2974-4G>A rs766593089 0.00003
NM_003072.5(SMARCA4):c.3066C>T (p.Ser1022=) rs149111403 0.00003
NM_003073.5(SMARCB1):c.978C>T (p.Tyr326=) rs187488637 0.00003
NM_003119.4(SPG7):c.1151-8C>T rs200402056 0.00003
NM_003289.4(TPM2):c.-65C>T rs377242459 0.00003
NM_003334.4(UBA1):c.1152G>A (p.Arg384=) rs782140095 0.00003
NM_003334.4(UBA1):c.2004-12G>A rs201583168 0.00003
NM_003334.4(UBA1):c.2275-7C>T rs782291288 0.00003
NM_003334.4(UBA1):c.2661A>G (p.Ala887=) rs782783941 0.00003
NM_003334.4(UBA1):c.2913C>T (p.Thr971=) rs782810108 0.00003
NM_003334.4(UBA1):c.2982G>T (p.Val994=) rs782156608 0.00003
NM_003334.4(UBA1):c.442A>G (p.Thr148Ala) rs782084400 0.00003
NM_003334.4(UBA1):c.94G>A (p.Glu32Lys) rs200206019 0.00003
NM_003413.4(ZIC3):c.1248T>G (p.Asp416Glu) rs755343529 0.00003
NM_003482.4(KMT2D):c.1000A>G (p.Asn334Asp) rs375948181 0.00003
NM_003482.4(KMT2D):c.10249G>A (p.Ala3417Thr) rs761409666 0.00003
NM_003482.4(KMT2D):c.11977C>G (p.Gln3993Glu) rs749377569 0.00003
NM_003482.4(KMT2D):c.1201G>A (p.Val401Met) rs200102669 0.00003
NM_003482.4(KMT2D):c.12084C>T (p.Thr4028=) rs553360102 0.00003
NM_003482.4(KMT2D):c.12229C>T (p.Leu4077Phe) rs774148221 0.00003
NM_003482.4(KMT2D):c.12523C>G (p.Pro4175Ala) rs766500530 0.00003
NM_003482.4(KMT2D):c.12626C>T (p.Pro4209Leu) rs765983115 0.00003
NM_003482.4(KMT2D):c.12664C>G (p.Leu4222Val) rs375330730 0.00003
NM_003482.4(KMT2D):c.12803G>A (p.Gly4268Glu) rs368301050 0.00003
NM_003482.4(KMT2D):c.13071G>C (p.Arg4357Ser) rs533214351 0.00003
NM_003482.4(KMT2D):c.13587C>T (p.Ser4529=) rs398123717 0.00003
NM_003482.4(KMT2D):c.13627G>T (p.Asp4543Tyr) rs772023360 0.00003
NM_003482.4(KMT2D):c.13924G>A (p.Val4642Ile) rs200638996 0.00003
NM_003482.4(KMT2D):c.14185C>T (p.Arg4729Trp) rs398123719 0.00003
NM_003482.4(KMT2D):c.14394C>T (p.Gly4798=) rs761860093 0.00003
NM_003482.4(KMT2D):c.14470G>A (p.Ala4824Thr) rs759709365 0.00003
NM_003482.4(KMT2D):c.14485G>A (p.Glu4829Lys) rs760667471 0.00003
NM_003482.4(KMT2D):c.14836G>A (p.Val4946Ile) rs756017412 0.00003
NM_003482.4(KMT2D):c.15004C>T (p.Arg5002Trp) rs768594066 0.00003
NM_003482.4(KMT2D):c.15080G>A (p.Arg5027Gln) rs774403945 0.00003
NM_003482.4(KMT2D):c.16197G>A (p.Val5399=) rs776542344 0.00003
NM_003482.4(KMT2D):c.1966C>A (p.Leu656Met) rs749130936 0.00003
NM_003482.4(KMT2D):c.2133G>A (p.Pro711=) rs1257302144 0.00003
NM_003482.4(KMT2D):c.2215G>A (p.Glu739Lys) rs587783706 0.00003
NM_003482.4(KMT2D):c.2533C>T (p.Arg845Trp) rs746841307 0.00003
NM_003482.4(KMT2D):c.3352C>T (p.Leu1118=) rs765867951 0.00003
NM_003482.4(KMT2D):c.3418A>G (p.Thr1140Ala) rs868356800 0.00003
NM_003482.4(KMT2D):c.3872G>A (p.Arg1291Gln) rs369794887 0.00003
NM_003482.4(KMT2D):c.3983G>A (p.Arg1328Gln) rs375635160 0.00003
NM_003482.4(KMT2D):c.4571G>A (p.Arg1524His) rs886049483 0.00003
NM_003482.4(KMT2D):c.5504G>T (p.Arg1835Leu) rs368134008 0.00003
NM_003482.4(KMT2D):c.6440C>T (p.Ala2147Val) rs764604229 0.00003
NM_003482.4(KMT2D):c.6518C>T (p.Ser2173Leu) rs765654409 0.00003
NM_003482.4(KMT2D):c.7036G>A (p.Gly2346Ser) rs761219768 0.00003
NM_003482.4(KMT2D):c.7108C>T (p.Arg2370Cys) rs1028524252 0.00003
NM_003482.4(KMT2D):c.7379G>A (p.Arg2460His) rs774358086 0.00003
NM_003482.4(KMT2D):c.7663G>A (p.Gly2555Ser) rs749367716 0.00003
NM_003482.4(KMT2D):c.7879T>C (p.Tyr2627His) rs748285379 0.00003
NM_003482.4(KMT2D):c.7970C>T (p.Ala2657Val) rs200913080 0.00003
NM_003482.4(KMT2D):c.8546C>T (p.Ala2849Val) rs370940954 0.00003
NM_003482.4(KMT2D):c.8695G>A (p.Gly2899Ser) rs587778472 0.00003
NM_003482.4(KMT2D):c.9295C>T (p.Arg3099Cys) rs747415183 0.00003
NM_003611.3(OFD1):c.1102C>G (p.Leu368Val) rs192285113 0.00003
NM_003611.3(OFD1):c.1694T>C (p.Val565Ala) rs529916753 0.00003
NM_003611.3(OFD1):c.2482T>G (p.Phe828Val) rs779051357 0.00003
NM_003611.3(OFD1):c.2953G>A (p.Gly985Ser) rs757837343 0.00003
NM_003611.3(OFD1):c.688A>G (p.Ile230Val) rs770131832 0.00003
NM_003722.5(TP63):c.*1464G>T rs571277874 0.00003
NM_003722.5(TP63):c.900G>A (p.Thr300=) rs372807713 0.00003
NM_003738.5(PTCH2):c.1054C>T (p.Leu352=) rs200855030 0.00003
NM_003738.5(PTCH2):c.44C>T (p.Thr15Ile) rs561781541 0.00003
NM_003738.5(PTCH2):c.945C>T (p.Ala315=) rs201325645 0.00003
NM_004064.5(CDKN1B):c.*173T>C rs762188974 0.00003
NM_004260.4(RECQL4):c.1755G>T (p.Val585=) rs539370260 0.00003
NM_004304.5(ALK):c.2127C>A (p.Asn709Lys) rs376175333 0.00003
NM_004333.6(BRAF):c.1068A>G (p.Gln356=) rs143335467 0.00003
NM_004333.6(BRAF):c.1694+14G>A rs184144181 0.00003
NM_004333.6(BRAF):c.2128-10_2128-9insC rs758588300 0.00003
NM_004333.6(BRAF):c.708C>T (p.Asn236=) rs138333692 0.00003
NM_004370.6(COL12A1):c.5996T>G (p.Leu1999Arg) rs774159573 0.00003
NM_004380.3(CREBBP):c.1758C>T (p.Thr586=) rs138353979 0.00003
NM_004380.3(CREBBP):c.2570C>T (p.Pro857Leu) rs766086544 0.00003
NM_004380.3(CREBBP):c.2635C>T (p.Pro879Ser) rs779479811 0.00003
NM_004380.3(CREBBP):c.4948G>A (p.Val1650Ile) rs776549587 0.00003
NM_004380.3(CREBBP):c.5115C>T (p.Tyr1705=) rs200287696 0.00003
NM_004380.3(CREBBP):c.5958G>A (p.Thr1986=) rs774747147 0.00003
NM_004380.3(CREBBP):c.6071C>T (p.Ala2024Val) rs745551441 0.00003
NM_004380.3(CREBBP):c.6524A>G (p.Asn2175Ser) rs587778214 0.00003
NM_004456.5(EZH2):c.232C>T (p.Arg78Cys) rs141583753 0.00003
NM_004959.5(NR5A1):c.777G>A (p.Pro259=) rs529716231 0.00003
NM_005027.4(PIK3R2):c.1620G>A (p.Thr540=) rs546014325 0.00003
NM_005045.4(RELN):c.2252A>C (p.Lys751Thr) rs116504075 0.00003
NM_005045.4(RELN):c.3197C>T (p.Pro1066Leu) rs116225248 0.00003
NM_005045.4(RELN):c.4314A>T (p.Gly1438=) rs368010584 0.00003
NM_005045.4(RELN):c.5157G>A (p.Ser1719=) rs144388452 0.00003
NM_005045.4(RELN):c.855A>G (p.Leu285=) rs749680856 0.00003
NM_005219.5(DIAPH1):c.117+9C>T rs528279050 0.00003
NM_005257.6(GATA6):c.1572T>C (p.Asp524=) rs199684979 0.00003
NM_005359.6(SMAD4):c.20C>T (p.Thr7Met) rs372316981 0.00003
NM_005445.4(SMC3):c.198+7G>A rs765985488 0.00003
NM_005445.4(SMC3):c.2982C>T (p.Ser994=) rs201308737 0.00003
NM_005572.4(LMNA):c.1712G>A (p.Arg571His) rs200917748 0.00003
NM_005629.4(SLC6A8):c.1017-5C>T rs782402297 0.00003
NM_005629.4(SLC6A8):c.1047T>C (p.Ser349=) rs372928878 0.00003
NM_005629.4(SLC6A8):c.1285C>G (p.Leu429Val) rs782551106 0.00003
NM_005629.4(SLC6A8):c.1474G>A (p.Val492Met) rs782478865 0.00003
NM_005629.4(SLC6A8):c.1541G>A (p.Arg514Gln) rs782361856 0.00003
NM_005629.4(SLC6A8):c.495C>T (p.Thr165=) rs144904949 0.00003
NM_005629.4(SLC6A8):c.633C>T (p.Ile211=) rs781806055 0.00003
NM_005633.4(SOS1):c.510+9C>G rs553448375 0.00003
NM_005660.3(SLC35A2):c.1015A>G (p.Ser339Gly) rs782789576 0.00003
NM_005660.3(SLC35A2):c.941G>A (p.Arg314His) rs920606773 0.00003
NM_005751.5(AKAP9):c.4143G>A (p.Pro1381=) rs754974720 0.00003
NM_005751.5(AKAP9):c.4440G>T (p.Val1480=) rs768773867 0.00003
NM_005751.5(AKAP9):c.6330+19T>C rs376744370 0.00003
NM_005996.4(TBX3):c.126C>T (p.Pro42=) rs770418304 0.00003
NM_005996.4(TBX3):c.1971G>A (p.Leu657=) rs757640161 0.00003
NM_006147.4(IRF6):c.351T>G (p.Pro117=) rs550521875 0.00003
NM_006265.3(RAD21):c.1237T>C (p.Leu413=) rs201779352 0.00003
NM_006306.4(SMC1A):c.1548C>T (p.Tyr516=) rs782547781 0.00003
NM_006306.4(SMC1A):c.2058+9C>G rs1356800269 0.00003
NM_006306.4(SMC1A):c.2973+16_2973+17del rs782659050 0.00003
NM_006306.4(SMC1A):c.412-14T>G rs782106342 0.00003
NM_006757.4(TNNT3):c.*86C>T rs200540491 0.00003
NM_006918.5(SC5D):c.*3070C>T rs563938795 0.00003
NM_006939.4(SOS2):c.2604C>T (p.Gly868=) rs765945171 0.00003
NM_006939.4(SOS2):c.2668-4T>C rs763298498 0.00003
NM_006941.4(SOX10):c.131C>G (p.Ala44Gly) rs747377284 0.00003
NM_012082.4(ZFPM2):c.1612G>A (p.Val538Ile) rs575054307 0.00003
NM_012082.4(ZFPM2):c.421-5T>C rs552410913 0.00003
NM_012330.4(KAT6B):c.2153G>A (p.Arg718Gln) rs754128910 0.00003
NM_012330.4(KAT6B):c.3539T>G (p.Val1180Gly) rs1213787718 0.00003
NM_012330.4(KAT6B):c.4384C>A (p.Leu1462Ile) rs374530664 0.00003
NM_012330.4(KAT6B):c.5232G>A (p.Pro1744=) rs569870263 0.00003
NM_012330.4(KAT6B):c.836G>A (p.Gly279Asp) rs370398832 0.00003
NM_012414.4(RAB3GAP2):c.*2043G>A rs367962640 0.00003
NM_012414.4(RAB3GAP2):c.2522C>T (p.Ala841Val) rs764713903 0.00003
NM_012431.3(SEMA3E):c.551-6G>A rs535143722 0.00003
NM_013275.6(ANKRD11):c.449C>T (p.Thr150Met) rs777070083 0.00003
NM_013275.6(ANKRD11):c.4533C>T (p.Pro1511=) rs769180959 0.00003
NM_013275.6(ANKRD11):c.541G>A (p.Ala181Thr) rs777123332 0.00003
NM_013275.6(ANKRD11):c.6085G>A (p.Val2029Ile) rs199785661 0.00003
NM_014140.4(SMARCAL1):c.1056C>T (p.Asp352=) rs775747796 0.00003
NM_014141.6(CNTNAP2):c.1998C>T (p.Ser666=) rs759797092 0.00003
NM_014244.5(ADAMTS2):c.2100C>T (p.Asp700=) rs560354978 0.00003
NM_014795.4(ZEB2):c.1533C>T (p.Val511=) rs587780994 0.00003
NM_014795.4(ZEB2):c.167T>C (p.Leu56Pro) rs61750440 0.00003
NM_014795.4(ZEB2):c.1836G>A (p.Ala612=) rs754916469 0.00003
NM_014795.4(ZEB2):c.2255C>T (p.Thr752Met) rs143438888 0.00003
NM_014795.4(ZEB2):c.2541C>T (p.Asn847=) rs759097498 0.00003
NM_015335.5(MED13L):c.1223A>G (p.Asn408Ser) rs377207761 0.00003
NM_015335.5(MED13L):c.1390T>G (p.Ser464Ala) rs769509528 0.00003
NM_015335.5(MED13L):c.4711A>G (p.Thr1571Ala) rs773833981 0.00003
NM_015335.5(MED13L):c.6580G>A (p.Val2194Ile) rs377611234 0.00003
NM_015338.6(ASXL1):c.1331C>T (p.Ser444Leu) rs373126831 0.00003
NM_015338.6(ASXL1):c.4343A>G (p.Gln1448Arg) rs772452614 0.00003
NM_015443.4(KANSL1):c.1855C>T (p.Arg619Trp) rs141298741 0.00003
NM_015443.4(KANSL1):c.1900G>A (p.Ala634Thr) rs145938212 0.00003
NM_015443.4(KANSL1):c.3082G>C (p.Asp1028His) rs765297359 0.00003
NM_015443.4(KANSL1):c.706T>C (p.Ser236Pro) rs747832991 0.00003
NM_015450.3(POT1):c.1077A>G (p.Gln359=) rs539321499 0.00003
NM_015713.5(RRM2B):c.913G>T (p.Ala305Ser) rs201440849 0.00003
NM_017617.5(NOTCH1):c.114A>G (p.Glu38=) rs375506915 0.00003
NM_017617.5(NOTCH1):c.1262A>G (p.Asn421Ser) rs928512979 0.00003
NM_017617.5(NOTCH1):c.1543G>C (p.Glu515Gln) rs749085650 0.00003
NM_017617.5(NOTCH1):c.1747G>A (p.Gly583Ser) rs757066417 0.00003
NM_017617.5(NOTCH1):c.1801G>A (p.Glu601Lys) rs749381544 0.00003
NM_017617.5(NOTCH1):c.1868A>G (p.Asn623Ser) rs769696527 0.00003
NM_017617.5(NOTCH1):c.1889T>C (p.Leu630Pro) rs752513330 0.00003
NM_017617.5(NOTCH1):c.2003C>T (p.Pro668Leu) rs576030298 0.00003
NM_017617.5(NOTCH1):c.2107C>T (p.Arg703Cys) rs746213819 0.00003
NM_017617.5(NOTCH1):c.2442G>A (p.Lys814=) rs544653892 0.00003
NM_017617.5(NOTCH1):c.2458C>T (p.Pro820Ser) rs1379596542 0.00003
NM_017617.5(NOTCH1):c.2520C>T (p.Asn840=) rs546222078 0.00003
NM_017617.5(NOTCH1):c.2635C>T (p.Arg879Trp) rs587778563 0.00003
NM_017617.5(NOTCH1):c.2725G>A (p.Asp909Asn) rs763217096 0.00003
NM_017617.5(NOTCH1):c.3245G>A (p.Arg1082His) rs758471372 0.00003
NM_017617.5(NOTCH1):c.3341G>A (p.Arg1114His) rs777684045 0.00003
NM_017617.5(NOTCH1):c.362C>T (p.Thr121Met) rs529738206 0.00003
NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met) rs112900950 0.00003
NM_017617.5(NOTCH1):c.4077C>T (p.Asn1359=) rs775108554 0.00003
NM_017617.5(NOTCH1):c.4078G>A (p.Gly1360Ser) rs769493139 0.00003
NM_017617.5(NOTCH1):c.4315G>A (p.Asp1439Asn) rs200232299 0.00003
NM_017617.5(NOTCH1):c.4412C>T (p.Ala1471Val) rs376799353 0.00003
NM_017617.5(NOTCH1):c.4918G>A (p.Ala1640Thr) rs976118697 0.00003
NM_017617.5(NOTCH1):c.5014C>T (p.Arg1672Cys) rs745901158 0.00003
NM_017617.5(NOTCH1):c.526C>T (p.Arg176Trp) rs575513935 0.00003
NM_017617.5(NOTCH1):c.5422G>A (p.Asp1808Asn) rs571739078 0.00003
NM_017617.5(NOTCH1):c.5573T>C (p.Met1858Thr) rs375102032 0.00003
NM_017617.5(NOTCH1):c.5733C>T (p.Ser1911=) rs61751534 0.00003
NM_017617.5(NOTCH1):c.5901G>A (p.Ala1967=) rs762092431 0.00003
NM_017617.5(NOTCH1):c.6130G>A (p.Ala2044Thr) rs544856644 0.00003
NM_017617.5(NOTCH1):c.6149A>G (p.Asn2050Ser) rs759344174 0.00003
NM_017617.5(NOTCH1):c.6294C>T (p.Arg2098=) rs777111928 0.00003
NM_017617.5(NOTCH1):c.6313A>G (p.Met2105Val) rs748138179 0.00003
NM_017617.5(NOTCH1):c.6377G>C (p.Gly2126Ala) rs776496915 0.00003
NM_017617.5(NOTCH1):c.6481C>T (p.Pro2161Ser) rs201518848 0.00003
NM_017617.5(NOTCH1):c.6665C>T (p.Pro2222Leu) rs779125725 0.00003
NM_017617.5(NOTCH1):c.6760G>A (p.Glu2254Lys) rs1163673587 0.00003
NM_017617.5(NOTCH1):c.7115G>A (p.Arg2372Gln) rs373119531 0.00003
NM_017617.5(NOTCH1):c.7250C>T (p.Pro2417Leu) rs370652630 0.00003
NM_017617.5(NOTCH1):c.7279G>A (p.Gly2427Ser) rs370722609 0.00003
NM_017617.5(NOTCH1):c.7357G>A (p.Val2453Met) rs574436740 0.00003
NM_017617.5(NOTCH1):c.7432G>A (p.Ala2478Thr) rs779039862 0.00003
NM_017617.5(NOTCH1):c.7632G>C (p.Gln2544His) rs754570072 0.00003
NM_017780.4(CHD7):c.1373C>G (p.Ser458Cys) rs767302034 0.00003
NM_017780.4(CHD7):c.1677G>A (p.Ser559=) rs568348314 0.00003
NM_017780.4(CHD7):c.1967C>T (p.Pro656Leu) rs776871277 0.00003
NM_017780.4(CHD7):c.2758C>T (p.Arg920Trp) rs773773546 0.00003
NM_017780.4(CHD7):c.295G>C (p.Ala99Pro) rs779024959 0.00003
NM_017780.4(CHD7):c.4894C>T (p.Arg1632Cys) rs545545721 0.00003
NM_017780.4(CHD7):c.5824C>T (p.Arg1942Trp) rs200441929 0.00003
NM_017780.4(CHD7):c.6468C>T (p.Val2156=) rs777858802 0.00003
NM_017780.4(CHD7):c.6677A>G (p.Asp2226Gly) rs755396598 0.00003
NM_017780.4(CHD7):c.7170T>G (p.Asp2390Glu) rs199966549 0.00003
NM_017780.4(CHD7):c.8197G>A (p.Ala2733Thr) rs370231679 0.00003
NM_017780.4(CHD7):c.8792T>C (p.Val2931Ala) rs754831415 0.00003
NM_018026.4(PACS1):c.1286C>G (p.Thr429Ser) rs760985201 0.00003
NM_018026.4(PACS1):c.2549A>G (p.Lys850Arg) rs772469681 0.00003
NM_018026.4(PACS1):c.430G>A (p.Ala144Thr) rs201877943 0.00003
NM_018062.4(FANCL):c.374+13T>C rs776463455 0.00003
NM_018062.4(FANCL):c.375-13C>T rs761490451 0.00003
NM_018127.7(ELAC2):c.1468T>G (p.Ser490Ala) rs149210630 0.00003
NM_018127.7(ELAC2):c.679+9A>G rs756430924 0.00003
NM_018136.5(ASPM):c.10331+18G>A rs571179573 0.00003
NM_018486.3(HDAC8):c.206C>A (p.Thr69Asn) rs373083907 0.00003
NM_018486.3(HDAC8):c.372A>G (p.Gln124=) rs141306915 0.00003
NM_018486.3(HDAC8):c.984C>T (p.Ser328=) rs782234700 0.00003
NM_020320.5(RARS2):c.1236G>C (p.Lys412Asn) rs200547165 0.00003
NM_020533.3(MCOLN1):c.707G>A (p.Arg236Gln) rs528887619 0.00003
NM_020751.3(COG6):c.69G>A (p.Gly23=) rs372786424 0.00003
NM_020975.6(RET):c.2298G>A (p.Pro766=) rs140658743 0.00003
NM_020975.6(RET):c.539G>A (p.Arg180Gln) rs370736139 0.00003
NM_021830.5(TWNK):c.492C>T (p.Leu164=) rs775463083 0.00003
NM_022168.4(IFIH1):c.2182C>T (p.Arg728Ter) rs201193151 0.00003
NM_022455.5(NSD1):c.6045T>C (p.Tyr2015=) rs745760201 0.00003
NM_022552.5(DNMT3A):c.2676A>G (p.Ser892=) rs763189481 0.00003
NM_023110.3(FGFR1):c.449-7C>T rs754454127 0.00003
NM_024009.3(GJB3):c.186C>T (p.Asn62=) rs373186826 0.00003
NM_024426.6(WT1):c.1124G>A (p.Arg375His) rs554416372 0.00003
NM_024426.6(WT1):c.1154G>A (p.Arg385Gln) rs147241955 0.00003
NM_024757.5(EHMT1):c.1014C>T (p.His338=) rs753010324 0.00003
NM_024757.5(EHMT1):c.1159C>T (p.Arg387Cys) rs532880924 0.00003
NM_024757.5(EHMT1):c.1231G>A (p.Gly411Ser) rs754380060 0.00003
NM_024757.5(EHMT1):c.141C>G (p.His47Gln) rs768561835 0.00003
NM_024757.5(EHMT1):c.1496C>T (p.Ala499Val) rs755121153 0.00003
NM_024757.5(EHMT1):c.205G>A (p.Ala69Thr) rs1468072346 0.00003
NM_024757.5(EHMT1):c.2642C>T (p.Thr881Ile) rs797045554 0.00003
NM_024757.5(EHMT1):c.3186C>T (p.Cys1062=) rs374547003 0.00003
NM_024757.5(EHMT1):c.325G>A (p.Val109Ile) rs199703555 0.00003
NM_024757.5(EHMT1):c.3400C>T (p.Arg1134Trp) rs778857511 0.00003
NM_024757.5(EHMT1):c.3417C>T (p.Gly1139=) rs747339529 0.00003
NM_024757.5(EHMT1):c.369C>T (p.Asn123=) rs770086341 0.00003
NM_024757.5(EHMT1):c.793T>G (p.Cys265Gly) rs978764377 0.00003
NM_025132.4(WDR19):c.3722C>T (p.Pro1241Leu) rs576113399 0.00003
NM_025136.4(OPA3):c.*3128C>G rs143702010 0.00003
NM_030662.4(MAP2K2):c.141C>T (p.Asp47=) rs201526172 0.00003
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu) rs140233356 0.00003
NM_033163.5(FGF8):c.130C>T (p.Arg44Trp) rs781205876 0.00003
NM_080632.3(UPF3B):c.105G>A (p.Lys35=) rs143487370 0.00003
NM_080632.3(UPF3B):c.352G>A (p.Val118Ile) rs187600102 0.00003
NM_080632.3(UPF3B):c.53C>T (p.Thr18Ile) rs201833722 0.00003
NM_080632.3(UPF3B):c.883T>C (p.Leu295=) rs755087452 0.00003
NM_080680.3(COL11A2):c.4983C>T (p.Asp1661=) rs528251146 0.00003
NM_133433.4(NIPBL):c.2768G>T (p.Gly923Val) rs200991784 0.00003
NM_138959.3(VANGL1):c.518G>A (p.Arg173His) rs148341022 0.00003
NM_139125.4(MASP1):c.510C>T (p.Phe170=) rs553549384 0.00003
NM_145068.4(TRPV3):c.*3258G>A rs571354968 0.00003
NM_145068.4(TRPV3):c.1622T>C (p.Leu541Ser) rs764913664 0.00003
NM_145068.4(TRPV3):c.2235C>T (p.His745=) rs746226070 0.00003
NM_152269.5(MTRFR):c.309G>A (p.Gln103=) rs573747271 0.00003
NM_152383.5(DIS3L2):c.1567G>A (p.Glu523Lys) rs745936781 0.00003
NM_152419.3(HGSNAT):c.1542+20C>T rs548171657 0.00003
NM_152419.3(HGSNAT):c.689C>T (p.Thr230Met) rs200416815 0.00003
NM_152564.5(VPS13B):c.1073G>A (p.Ser358Asn) rs201965789 0.00003
NM_152564.5(VPS13B):c.2885C>T (p.Thr962Met) rs547184348 0.00003
NM_153490.3(KRT13):c.1028C>T (p.Ala343Val) rs199762312 0.00003
NM_153490.3(KRT13):c.1227C>T (p.Leu409=) rs149077503 0.00003
NM_153717.3(EVC):c.771A>G (p.Leu257=) rs756340487 0.00003
NM_170707.4(LMNA):c.1227A>G (p.Thr409=) rs762130433 0.00003
NM_170707.4(LMNA):c.1324G>A (p.Val442Met) rs368542816 0.00003
NM_181486.4(TBX5):c.*4G>T rs745708633 0.00003
NM_181486.4(TBX5):c.1123C>T (p.Arg375Trp) rs377532269 0.00003
NM_181486.4(TBX5):c.16G>A (p.Glu6Lys) rs145365553 0.00003
NM_181486.4(TBX5):c.363-6A>G rs757819289 0.00003
NM_181486.4(TBX5):c.57A>G (p.Ala19=) rs567785340 0.00003
NM_206937.2(LIG4):c.2499T>C (p.Asn833=) rs769297575 0.00003
NM_000020.3(ACVRL1):c.61+7A>T rs200221603 0.00002
NM_000052.7(ATP7A):c.1375T>C (p.Ser459Pro) rs374530062 0.00002
NM_000052.7(ATP7A):c.1425G>A (p.Met475Ile) rs782058395 0.00002
NM_000052.7(ATP7A):c.1909T>G (p.Ser637Ala) rs1308442670 0.00002
NM_000052.7(ATP7A):c.239C>T (p.Pro80Leu) rs782602356 0.00002
NM_000052.7(ATP7A):c.2907C>G (p.Thr969=) rs781835541 0.00002
NM_000052.7(ATP7A):c.3434C>T (p.Ala1145Val) rs374154862 0.00002
NM_000052.7(ATP7A):c.3587A>G (p.Asn1196Ser) rs782250966 0.00002
NM_000052.7(ATP7A):c.4006-10C>T rs782741784 0.00002
NM_000052.7(ATP7A):c.705A>C (p.Pro235=) rs199608277 0.00002
NM_000057.4(BLM):c.3019+17T>C rs532036885 0.00002
NM_000075.4(CDK4):c.178C>T (p.Leu60=) rs1595110993 0.00002
NM_000075.4(CDK4):c.183G>A (p.Arg61=) rs771902016 0.00002
NM_000075.4(CDK4):c.279T>C (p.Phe93=) rs1478574297 0.00002
NM_000075.4(CDK4):c.576A>C (p.Ala192=) rs565563672 0.00002
NM_000075.4(CDK4):c.763C>T (p.Arg255Cys) rs587778188 0.00002
NM_000075.4(CDK4):c.906G>A (p.Pro302=) rs375309124 0.00002
NM_000075.4(CDK4):c.96G>C (p.Val32=) rs563392051 0.00002
NM_000088.4(COL1A1):c.*93A>G rs367971695 0.00002
NM_000088.4(COL1A1):c.1017C>T (p.Pro339=) rs543735501 0.00002
NM_000088.4(COL1A1):c.1062A>T (p.Glu354Asp) rs778733293 0.00002
NM_000088.4(COL1A1):c.3106C>T (p.Arg1036Cys) rs72653177 0.00002
NM_000088.4(COL1A1):c.4387T>C (p.Phe1463Leu) rs577626107 0.00002
NM_000090.4(COL3A1):c.2958C>T (p.Asn986=) rs41264441 0.00002
NM_000093.5(COL5A1):c.1144G>A (p.Asp382Asn) rs148288567 0.00002
NM_000093.5(COL5A1):c.1147A>G (p.Thr383Ala) rs747758069 0.00002
NM_000093.5(COL5A1):c.1190C>T (p.Ala397Val) rs537424110 0.00002
NM_000093.5(COL5A1):c.1208A>T (p.Glu403Val) rs752746395 0.00002
NM_000093.5(COL5A1):c.1240G>A (p.Glu414Lys) rs763456705 0.00002
NM_000093.5(COL5A1):c.1291G>A (p.Gly431Arg) rs962170388 0.00002
NM_000093.5(COL5A1):c.1293G>T (p.Gly431=) rs373460629 0.00002
NM_000093.5(COL5A1):c.1351G>A (p.Glu451Lys) rs755546104 0.00002
NM_000093.5(COL5A1):c.1591G>A (p.Asp531Asn) rs779170635 0.00002
NM_000093.5(COL5A1):c.187G>A (p.Ala63Thr) rs749697867 0.00002
NM_000093.5(COL5A1):c.2750C>T (p.Pro917Leu) rs375600865 0.00002
NM_000093.5(COL5A1):c.2947G>A (p.Glu983Lys) rs146348246 0.00002
NM_000093.5(COL5A1):c.3599C>T (p.Pro1200Leu) rs781363147 0.00002
NM_000093.5(COL5A1):c.3753G>A (p.Pro1251=) rs779638584 0.00002
NM_000093.5(COL5A1):c.3856G>A (p.Glu1286Lys) rs149717587 0.00002
NM_000093.5(COL5A1):c.3897C>T (p.Gly1299=) rs745918663 0.00002
NM_000093.5(COL5A1):c.4577C>T (p.Pro1526Leu) rs863223459 0.00002
NM_000093.5(COL5A1):c.4753C>T (p.Arg1585Trp) rs546865410 0.00002
NM_000093.5(COL5A1):c.4794C>T (p.Gly1598=) rs863223481 0.00002
NM_000093.5(COL5A1):c.4837G>A (p.Gly1613Ser) rs772523567 0.00002
NM_000093.5(COL5A1):c.4879C>T (p.Arg1627Trp) rs558906147 0.00002
NM_000093.5(COL5A1):c.5126G>A (p.Arg1709His) rs193275092 0.00002
NM_000093.5(COL5A1):c.5195G>A (p.Arg1732Gln) rs767300218 0.00002
NM_000093.5(COL5A1):c.5294G>A (p.Arg1765His) rs150608071 0.00002
NM_000093.5(COL5A1):c.5338C>T (p.Pro1780Ser) rs781230603 0.00002
NM_000093.5(COL5A1):c.5394G>A (p.Thr1798=) rs200515325 0.00002
NM_000093.5(COL5A1):c.583G>A (p.Asp195Asn) rs781248560 0.00002
NM_000135.4(FANCA):c.837C>T (p.Asp279=) rs752311383 0.00002
NM_000136.3(FANCC):c.457-7T>C rs749994612 0.00002
NM_000138.5(FBN1):c.*1484C>T rs533502309 0.00002
NM_000138.5(FBN1):c.6379+4A>G rs780370404 0.00002
NM_000143.4(FH):c.702T>G (p.Thr234=) rs201083387 0.00002
NM_000168.6(GLI3):c.3631G>A (p.Gly1211Arg) rs757059523 0.00002
NM_000168.6(GLI3):c.935C>T (p.Thr312Met) rs772929930 0.00002
NM_000202.8(IDS):c.1113G>A (p.Pro371=) rs146615651 0.00002
NM_000202.8(IDS):c.1347G>A (p.Glu449=) rs782690963 0.00002
NM_000202.8(IDS):c.177G>A (p.Val59=) rs782743276 0.00002
NM_000202.8(IDS):c.696C>T (p.Phe232=) rs782498858 0.00002
NM_000214.3(JAG1):c.1443C>T (p.Gly481=) rs879921003 0.00002
NM_000214.3(JAG1):c.2911T>C (p.Ser971Pro) rs750570683 0.00002
NM_000214.3(JAG1):c.3523G>A (p.Ala1175Thr) rs769685858 0.00002
NM_000214.3(JAG1):c.3542G>A (p.Arg1181Lys) rs758788135 0.00002
NM_000214.3(JAG1):c.388-4G>C rs567027490 0.00002
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile) rs750409379 0.00002
NM_000218.3(KCNQ1):c.1794+16G>A rs199660137 0.00002
NM_000238.4(KCNH2):c.2331C>T (p.Thr777=) rs41307292 0.00002
NM_000264.5(PTCH1):c.1039G>C (p.Val347Leu) rs1060502279 0.00002
NM_000264.5(PTCH1):c.104G>A (p.Arg35Gln) rs587778627 0.00002
NM_000264.5(PTCH1):c.1058A>G (p.Lys353Arg) rs757579309 0.00002
NM_000264.5(PTCH1):c.1192G>A (p.Ala398Thr) rs937023804 0.00002
NM_000264.5(PTCH1):c.1207T>C (p.Tyr403His) rs1349048226 0.00002
NM_000264.5(PTCH1):c.1215+14C>T rs367857273 0.00002
NM_000264.5(PTCH1):c.1324G>A (p.Val442Met) rs759493890 0.00002
NM_000264.5(PTCH1):c.1351G>A (p.Ala451Thr) rs142791675 0.00002
NM_000264.5(PTCH1):c.1810G>A (p.Glu604Lys) rs778627715 0.00002
NM_000264.5(PTCH1):c.1912C>T (p.Arg638Cys) rs1053507002 0.00002
NM_000264.5(PTCH1):c.1942C>G (p.His648Asp) rs149762881 0.00002
NM_000264.5(PTCH1):c.2105C>G (p.Pro702Arg) rs368362152 0.00002
NM_000264.5(PTCH1):c.2303C>T (p.Thr768Ile) rs878853850 0.00002
NM_000264.5(PTCH1):c.2348G>A (p.Arg783Gln) rs779296683 0.00002
NM_000264.5(PTCH1):c.2797G>A (p.Ala933Thr) rs373120584 0.00002
NM_000264.5(PTCH1):c.2938G>A (p.Gly980Ser) rs778337760 0.00002
NM_000264.5(PTCH1):c.3067G>A (p.Gly1023Ser) rs752317944 0.00002
NM_000264.5(PTCH1):c.3100G>A (p.Val1034Met) rs760902564 0.00002
NM_000264.5(PTCH1):c.3183G>A (p.Ala1061=) rs878853854 0.00002
NM_000264.5(PTCH1):c.3391G>A (p.Val1131Met) rs566619057 0.00002
NM_000264.5(PTCH1):c.3541T>C (p.Tyr1181His) rs367784268 0.00002
NM_000264.5(PTCH1):c.3610G>A (p.Val1204Met) rs370675945 0.00002
NM_000264.5(PTCH1):c.3623C>T (p.Ala1208Val) rs914090288 0.00002
NM_000264.5(PTCH1):c.3649G>A (p.Gly1217Arg) rs768986314 0.00002
NM_000264.5(PTCH1):c.3676A>G (p.Ser1226Gly) rs890755179 0.00002
NM_000264.5(PTCH1):c.3724G>A (p.Glu1242Lys) rs779417284 0.00002
NM_000264.5(PTCH1):c.4030G>T (p.Ala1344Ser) rs765017975 0.00002
NM_000264.5(PTCH1):c.4034G>A (p.Arg1345His) rs766315655 0.00002
NM_000264.5(PTCH1):c.4085C>T (p.Pro1362Leu) rs777731495 0.00002
NM_000264.5(PTCH1):c.4151C>T (p.Pro1384Leu) rs146447673 0.00002
NM_000264.5(PTCH1):c.61A>C (p.Ile21Leu) rs756724967 0.00002
NM_000264.5(PTCH1):c.658A>G (p.Ile220Val) rs768776930 0.00002
NM_000264.5(PTCH1):c.724C>G (p.Gln242Glu) rs376353501 0.00002
NM_000264.5(PTCH1):c.955A>G (p.Met319Val) rs1438545679 0.00002
NM_000280.4(PAX6):c.*4696G>C rs180780893 0.00002
NM_000284.4(PDHA1):c.327C>T (p.Asn109=) rs772943333 0.00002
NM_000284.4(PDHA1):c.759+9A>G rs2643456 0.00002
NM_000346.4(SOX9):c.1169G>C (p.Gly390Ala) rs750284138 0.00002
NM_000346.4(SOX9):c.76A>G (p.Met26Val) rs575451633 0.00002
NM_000368.5(TSC1):c.*1052G>A rs562950766 0.00002
NM_000368.5(TSC1):c.*4385G>T rs552453527 0.00002
NM_000368.5(TSC1):c.-35G>A rs370122384 0.00002
NM_000393.5(COL5A2):c.2661+13G>T rs534626192 0.00002
NM_000393.5(COL5A2):c.293A>G (p.Gln98Arg) rs374402209 0.00002
NM_000393.5(COL5A2):c.3170C>A (p.Thr1057Asn) rs201186702 0.00002
NM_000393.5(COL5A2):c.4239C>T (p.Asp1413=) rs529257786 0.00002
NM_000393.5(COL5A2):c.750G>A (p.Pro250=) rs751819198 0.00002
NM_000393.5(COL5A2):c.906+10A>T rs776578452 0.00002
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn) rs104895380 0.00002
NM_000478.6(ALPL):c.44C>G (p.Thr15Ser) rs150849772 0.00002
NM_000489.6(ATRX):c.114T>G (p.Leu38=) rs201353033 0.00002
NM_000489.6(ATRX):c.1257G>A (p.Ala419=) rs185550133 0.00002
NM_000489.6(ATRX):c.1441G>C (p.Glu481Gln) rs782128777 0.00002
NM_000489.6(ATRX):c.1446A>C (p.Glu482Asp) rs886044778 0.00002
NM_000489.6(ATRX):c.1666G>A (p.Val556Met) rs782001042 0.00002
NM_000489.6(ATRX):c.2087G>C (p.Arg696Thr) rs781967738 0.00002
NM_000489.6(ATRX):c.2174T>C (p.Val725Ala) rs960922907 0.00002
NM_000489.6(ATRX):c.2524C>T (p.Pro842Ser) rs782196312 0.00002
NM_000489.6(ATRX):c.2728A>G (p.Lys910Glu) rs782016225 0.00002
NM_000489.6(ATRX):c.3459A>G (p.Ser1153=) rs782427169 0.00002
NM_000489.6(ATRX):c.3646A>G (p.Ile1216Val) rs782062542 0.00002
NM_000489.6(ATRX):c.3848A>G (p.Asn1283Ser) rs201588422 0.00002
NM_000489.6(ATRX):c.3953A>G (p.Asn1318Ser) rs782293614 0.00002
NM_000489.6(ATRX):c.3962A>G (p.Asn1321Ser) rs1440336962 0.00002
NM_000489.6(ATRX):c.4096G>A (p.Val1366Ile) rs1280555560 0.00002
NM_000489.6(ATRX):c.4699+9C>T rs782140505 0.00002
NM_000489.6(ATRX):c.4866G>A (p.Ala1622=) rs145036475 0.00002
NM_000489.6(ATRX):c.5184A>G (p.Ala1728=) rs782211965 0.00002
NM_000489.6(ATRX):c.5493C>T (p.His1831=) rs782508028 0.00002
NM_000489.6(ATRX):c.6327-18C>T rs372246179 0.00002
NM_000489.6(ATRX):c.6924T>C (p.Tyr2308=) rs139457986 0.00002
NM_000489.6(ATRX):c.7083C>T (p.Asn2361=) rs3027525 0.00002
NM_000489.6(ATRX):c.7111G>A (p.Ala2371Thr) rs147341551 0.00002
NM_000489.6(ATRX):c.7200+15G>A rs372742045 0.00002
NM_000489.6(ATRX):c.7229T>C (p.Met2410Thr) rs782388992 0.00002
NM_000501.4(ELN):c.686-17G>A rs149812011 0.00002
NM_000503.6(EYA1):c.49A>G (p.Ser17Gly) rs747231434 0.00002
NM_000503.6(EYA1):c.724A>G (p.Ser242Gly) rs191838840 0.00002
NM_000553.6(WRN):c.1378G>A (p.Asp460Asn) rs556958354 0.00002
NM_000719.7(CACNA1C):c.2339+20C>A rs201164691 0.00002
NM_000719.7(CACNA1C):c.3237G>A (p.Gly1079=) rs534453109 0.00002
NM_000719.7(CACNA1C):c.5920C>T (p.Leu1974Phe) rs767660098 0.00002
NM_000891.3(KCNJ2):c.531C>T (p.Gly177=) rs544384907 0.00002
NM_000965.5(RARB):c.1316G>C (p.Ser439Thr) rs368432868 0.00002
NM_001010867.4(IBA57):c.342-7C>A rs368007738 0.00002
NM_001018113.3(FANCB):c.1331A>T (p.Glu444Val) rs368679125 0.00002
NM_001018113.3(FANCB):c.2553T>C (p.Phe851=) rs759020755 0.00002
NM_001018113.3(FANCB):c.552G>A (p.Leu184=) rs771998496 0.00002
NM_001024630.4(RUNX2):c.-64T>C rs750277342 0.00002
NM_001024630.4(RUNX2):c.124G>T (p.Val42Leu) rs753332305 0.00002
NM_001032386.2(SUOX):c.977C>A (p.Thr326Asn) rs540920017 0.00002
NM_001040167.2(LFNG):c.988-16C>T rs376736772 0.00002
NM_001042492.3(NF1):c.1213A>G (p.Thr405Ala) rs587782233 0.00002
NM_001042492.3(NF1):c.1901T>C (p.Ile634Thr) rs527563505 0.00002
NM_001042492.3(NF1):c.1955G>A (p.Arg652His) rs587778549 0.00002
NM_001042492.3(NF1):c.212T>C (p.Phe71Ser) rs752396270 0.00002
NM_001042492.3(NF1):c.2617C>T (p.Arg873Cys) rs199474739 0.00002
NM_001042492.3(NF1):c.2819C>G (p.Thr940Ser) rs368995630 0.00002
NM_001042492.3(NF1):c.3374C>T (p.Ala1125Val) rs902739109 0.00002
NM_001042492.3(NF1):c.367A>G (p.Thr123Ala) rs587781757 0.00002
NM_001042492.3(NF1):c.512A>G (p.Asn171Ser) rs767500770 0.00002
NM_001042492.3(NF1):c.5225A>G (p.Asn1742Ser) rs745407845 0.00002
NM_001042492.3(NF1):c.529A>G (p.Ile177Val) rs766213678 0.00002
NM_001042492.3(NF1):c.60+16C>A rs780674112 0.00002
NM_001042492.3(NF1):c.6819+11C>T rs201213225 0.00002
NM_001042492.3(NF1):c.7838C>T (p.Pro2613Leu) rs750972729 0.00002
NM_001042492.3(NF1):c.8073T>G (p.His2691Gln) rs375468032 0.00002
NM_001044385.3(TMEM237):c.74+16A>G rs538615771 0.00002
NM_001083962.2(TCF4):c.1354G>A (p.Gly452Arg) rs138570124 0.00002
NM_001083962.2(TCF4):c.1650-14C>T rs569480730 0.00002
NM_001083962.2(TCF4):c.245G>A (p.Ser82Asn) rs773462232 0.00002
NM_001101.5(ACTB):c.1041C>T (p.Ala347=) rs190642491 0.00002
NM_001106.4(ACVR2B):c.*3169T>A rs149804558 0.00002
NM_001114753.3(ENG):c.1217G>A (p.Arg406His) rs149065210 0.00002
NM_001114753.3(ENG):c.805A>G (p.Met269Val) rs1323617205 0.00002
NM_001122681.2(SH3BP2):c.1462C>T (p.Arg488Trp) rs373554386 0.00002
NM_001148.6(ANK2):c.11862C>T (p.Asp3954=) rs755240882 0.00002
NM_001148.6(ANK2):c.1485+19A>G rs3025731 0.00002
NM_001148.6(ANK2):c.1680C>T (p.Thr560=) rs752903781 0.00002
NM_001148.6(ANK2):c.1710A>G (p.Ala570=) rs757515084 0.00002
NM_001148.6(ANK2):c.3927A>G (p.Glu1309=) rs567570285 0.00002
NM_001148.6(ANK2):c.5715G>A (p.Ser1905=) rs143404578 0.00002
NM_001148.6(ANK2):c.615C>T (p.Thr205=) rs587780852 0.00002
NM_001148.6(ANK2):c.8595A>C (p.Ile2865=) rs760511790 0.00002
NM_001148.6(ANK2):c.8911G>A (p.Val2971Ile) rs752493662 0.00002
NM_001151.4(SLC25A4):c.*1146T>C rs537652975 0.00002
NM_001203.3(BMPR1B):c.670C>T (p.Arg224Cys) rs777745046 0.00002
NM_001291415.2(KDM6A):c.2436C>T (p.Cys812=) rs144511145 0.00002
NM_001291415.2(KDM6A):c.2888G>C (p.Ser963Thr) rs201673109 0.00002
NM_001291415.2(KDM6A):c.3365+20C>T rs770935771 0.00002
NM_001291415.2(KDM6A):c.4217A>G (p.Tyr1406Cys) rs375096245 0.00002
NM_001291415.2(KDM6A):c.4255G>A (p.Gly1419Arg) rs370298215 0.00002
NM_001291415.2(KDM6A):c.4341A>G (p.Pro1447=) rs778920577 0.00002
NM_001291415.2(KDM6A):c.918T>C (p.Ser306=) rs753152841 0.00002
NM_001291867.2(NHS):c.1929G>A (p.Ser643=) rs143564715 0.00002
NM_001291867.2(NHS):c.2683G>A (p.Ala895Thr) rs770236873 0.00002
NM_001291867.2(NHS):c.3141C>T (p.Pro1047=) rs777688578 0.00002
NM_001291867.2(NHS):c.4043G>A (p.Arg1348His) rs141525588 0.00002
NM_001291867.2(NHS):c.4153G>A (p.Ala1385Thr) rs1192248368 0.00002
NM_001308093.3(GATA4):c.912+15C>T rs375658877 0.00002
NM_001347721.2(DYRK1A):c.1307C>T (p.Thr436Met) rs759524625 0.00002
NM_001347721.2(DYRK1A):c.1564C>T (p.Pro522Ser) rs757603372 0.00002
NM_001347721.2(DYRK1A):c.1702G>C (p.Val568Leu) rs771373401 0.00002
NM_001347721.2(DYRK1A):c.1852C>T (p.Arg618Trp) rs758367401 0.00002
NM_001347721.2(DYRK1A):c.241A>G (p.Thr81Ala) rs767489712 0.00002
NM_001347721.2(DYRK1A):c.300+9T>C rs187183665 0.00002
NM_001354604.2(MITF):c.*447C>A rs546175299 0.00002
NM_001360.3(DHCR7):c.408T>G (p.Pro136=) rs772940271 0.00002
NM_001368894.2(PAX6):c.-316-8C>G rs566281941 0.00002
NM_001370259.2(MEN1):c.1155G>A (p.Ala385=) rs201091135 0.00002
NM_001370259.2(MEN1):c.115T>C (p.Leu39=) rs863224438 0.00002
NM_001370259.2(MEN1):c.1356G>T (p.Arg452=) rs1180957953 0.00002
NM_001370259.2(MEN1):c.1695G>T (p.Leu565=) rs767677287 0.00002
NM_001370259.2(MEN1):c.426C>T (p.Ser142=) rs753252650 0.00002
NM_001370259.2(MEN1):c.639C>T (p.Ala213=) rs746067825 0.00002
NM_001370259.2(MEN1):c.696C>T (p.Arg232=) rs753411991 0.00002
NM_001370259.2(MEN1):c.993C>T (p.Asn331=) rs370176253 0.00002
NM_001374353.1(GLI2):c.2243-4G>A rs568001894 0.00002
NM_001387283.1(SMARCA4):c.4256G>A (p.Arg1419His) rs775807962 0.00002
NM_001394062.1(MACF1):c.11994A>G (p.Gln3998=) rs148458151 0.00002
NM_001399.5(EDA):c.1083C>T (p.Ala361=) rs780464771 0.00002
NM_001399.5(EDA):c.132G>C (p.Leu44=) rs760109372 0.00002
NM_001429.4(EP300):c.1341A>G (p.Gln447=) rs780940794 0.00002
NM_001429.4(EP300):c.2334A>G (p.Thr778=) rs374281264 0.00002
NM_001457.4(FLNB):c.2523T>G (p.Pro841=) rs376893941 0.00002
NM_001614.5(ACTG1):c.51C>T (p.Cys17=) rs201570725 0.00002
NM_001614.5(ACTG1):c.861G>A (p.Val287=) rs558300445 0.00002
NM_001999.4(FBN2):c.1897A>G (p.Ile633Val) rs748419325 0.00002
NM_001999.4(FBN2):c.1973-20T>C rs774598343 0.00002
NM_001999.4(FBN2):c.2901A>G (p.Pro967=) rs185991527 0.00002
NM_001999.4(FBN2):c.3442A>G (p.Ser1148Gly) rs764809572 0.00002
NM_001999.4(FBN2):c.3464A>G (p.Asn1155Ser) rs150224718 0.00002
NM_001999.4(FBN2):c.6329A>G (p.Asn2110Ser) rs1016100479 0.00002
NM_001999.4(FBN2):c.6490A>G (p.Ser2164Gly) rs763160605 0.00002
NM_001999.4(FBN2):c.6910G>A (p.Asp2304Asn) rs368802769 0.00002
NM_001999.4(FBN2):c.6989G>A (p.Arg2330Lys) rs886038992 0.00002
NM_001999.4(FBN2):c.6994G>A (p.Asp2332Asn) rs886059894 0.00002
NM_001999.4(FBN2):c.8498G>A (p.Arg2833His) rs753753954 0.00002
NM_002076.4(GNS):c.285A>G (p.Arg95=) rs545765198 0.00002
NM_002272.4(KRT4):c.*267G>A rs546884677 0.00002
NM_002386.4(MC1R):c.869A>G (p.Asn290Ser) rs373703770 0.00002
NM_002470.4(MYH3):c.1888+10G>A rs759205757 0.00002
NM_002470.4(MYH3):c.19A>G (p.Met7Val) rs191571748 0.00002
NM_002470.4(MYH3):c.571C>T (p.Arg191Trp) rs368171012 0.00002
NM_002485.5(NBN):c.995-17A>G rs372875251 0.00002
NM_002615.7(SERPINF1):c.509C>T (p.Thr170Met) rs762383656 0.00002
NM_002641.4(PIGA):c.1139T>C (p.Ile380Thr) rs768749706 0.00002
NM_002641.4(PIGA):c.1188+4T>C rs751261624 0.00002
NM_002641.4(PIGA):c.1382G>A (p.Arg461Gln) rs769061128 0.00002
NM_002641.4(PIGA):c.307G>A (p.Ala103Thr) rs777795093 0.00002
NM_002641.4(PIGA):c.369G>A (p.Thr123=) rs766304305 0.00002
NM_002641.4(PIGA):c.43G>A (p.Ala15Thr) rs369608621 0.00002
NM_003000.3(SDHB):c.765+13G>A rs115561881 0.00002
NM_003002.4(SDHD):c.435C>T (p.His145=) rs200062830 0.00002
NM_003036.4(SKI):c.190G>A (p.Val64Met) rs754036418 0.00002
NM_003052.5(SLC34A1):c.437C>T (p.Pro146Leu) rs548844573 0.00002
NM_003070.5(SMARCA2):c.3939C>T (p.Asp1313=) rs745662991 0.00002
NM_003070.5(SMARCA2):c.4736G>A (p.Arg1579His) rs138760068 0.00002
NM_003072.5(SMARCA4):c.1074G>A (p.Pro358=) rs374167170 0.00002
NM_003072.5(SMARCA4):c.2617-4G>A rs201020451 0.00002
NM_003072.5(SMARCA4):c.4872G>A (p.Pro1624=) rs182644267 0.00002
NM_003334.4(UBA1):c.1103G>A (p.Arg368Gln) rs1261345480 0.00002
NM_003334.4(UBA1):c.1173T>C (p.Ala391=) rs781783732 0.00002
NM_003334.4(UBA1):c.1328A>G (p.Lys443Arg) rs888369922 0.00002
NM_003334.4(UBA1):c.1485G>A (p.Gly495=) rs782721809 0.00002
NM_003334.4(UBA1):c.1818T>C (p.Asn606=) rs782565505 0.00002
NM_003334.4(UBA1):c.210C>T (p.Leu70=) rs191969626 0.00002
NM_003334.4(UBA1):c.2460T>C (p.Ser820=) rs782208544 0.00002
NM_003334.4(UBA1):c.2724G>A (p.Glu908=) rs376593996 0.00002
NM_003334.4(UBA1):c.2928C>T (p.Leu976=) rs782070102 0.00002
NM_003334.4(UBA1):c.3068C>T (p.Ser1023Leu) rs1185350232 0.00002
NM_003334.4(UBA1):c.486G>A (p.Val162=) rs370643219 0.00002
NM_003413.4(ZIC3):c.420C>T (p.Phe140=) rs761546254 0.00002
NM_003482.4(KMT2D):c.10160C>G (p.Pro3387Arg) rs777266197 0.00002
NM_003482.4(KMT2D):c.11006G>A (p.Gly3669Asp) rs760279764 0.00002
NM_003482.4(KMT2D):c.11021A>G (p.Asn3674Ser) rs370631539 0.00002
NM_003482.4(KMT2D):c.11120G>A (p.Arg3707Gln) rs587778477 0.00002
NM_003482.4(KMT2D):c.11150A>C (p.Gln3717Pro) rs398123705 0.00002
NM_003482.4(KMT2D):c.11641A>G (p.Met3881Val) rs797045657 0.00002
NM_003482.4(KMT2D):c.11794C>G (p.Gln3932Glu) rs958331584 0.00002
NM_003482.4(KMT2D):c.12218C>T (p.Ser4073Leu) rs1028956623 0.00002
NM_003482.4(KMT2D):c.12868C>G (p.Pro4290Ala) rs763571646 0.00002
NM_003482.4(KMT2D):c.13034A>G (p.Lys4345Arg) rs777630263 0.00002
NM_003482.4(KMT2D):c.13694C>T (p.Thr4565Met) rs749198835 0.00002
NM_003482.4(KMT2D):c.14071G>A (p.Val4691Ile) rs762462902 0.00002
NM_003482.4(KMT2D):c.14395G>A (p.Val4799Met) rs373731411 0.00002
NM_003482.4(KMT2D):c.14543A>G (p.Lys4848Arg) rs775546652 0.00002
NM_003482.4(KMT2D):c.14926C>T (p.Pro4976Ser) rs373072465 0.00002
NM_003482.4(KMT2D):c.15071A>G (p.Lys5024Arg) rs761129445 0.00002
NM_003482.4(KMT2D):c.15560C>G (p.Ala5187Gly) rs770452569 0.00002
NM_003482.4(KMT2D):c.1568C>T (p.Pro523Leu) rs376761356 0.00002
NM_003482.4(KMT2D):c.2110G>T (p.Asp704Tyr) rs761977604 0.00002
NM_003482.4(KMT2D):c.2277A>G (p.Pro759=) rs1358870319 0.00002
NM_003482.4(KMT2D):c.2384C>G (p.Pro795Arg) rs778097808 0.00002
NM_003482.4(KMT2D):c.250C>T (p.Arg84Cys) rs748173147 0.00002
NM_003482.4(KMT2D):c.251G>A (p.Arg84His) rs780096090 0.00002
NM_003482.4(KMT2D):c.2785C>T (p.Leu929=) rs745396055 0.00002
NM_003482.4(KMT2D):c.2862G>T (p.Leu954Phe) rs745998117 0.00002
NM_003482.4(KMT2D):c.2995A>G (p.Met999Val) rs368584537 0.00002
NM_003482.4(KMT2D):c.4000T>G (p.Ser1334Ala) rs750081274 0.00002
NM_003482.4(KMT2D):c.4865G>C (p.Gly1622Ala) rs377457393 0.00002
NM_003482.4(KMT2D):c.4903C>T (p.Leu1635Phe) rs373445112 0.00002
NM_003482.4(KMT2D):c.5431G>A (p.Gly1811Ser) rs369800371 0.00002
NM_003482.4(KMT2D):c.5477G>T (p.Gly1826Val) rs574989512 0.00002
NM_003482.4(KMT2D):c.5549G>A (p.Gly1850Asp) rs778359468 0.00002
NM_003482.4(KMT2D):c.5594C>T (p.Thr1865Ile) rs886049481 0.00002
NM_003482.4(KMT2D):c.5801A>G (p.Asn1934Ser) rs756972898 0.00002
NM_003482.4(KMT2D):c.6464C>T (p.Ser2155Leu) rs776944266 0.00002
NM_003482.4(KMT2D):c.65C>T (p.Ala22Val) rs1347059574 0.00002
NM_003482.4(KMT2D):c.6608C>T (p.Thr2203Met) rs770692765 0.00002
NM_003482.4(KMT2D):c.688G>A (p.Ala230Thr) rs758710579 0.00002
NM_003482.4(KMT2D):c.6919G>A (p.Val2307Ile) rs763955557 0.00002
NM_003482.4(KMT2D):c.7229G>A (p.Arg2410Gln) rs587778466 0.00002
NM_003482.4(KMT2D):c.7390G>A (p.Ala2464Thr) rs1205815044 0.00002
NM_003482.4(KMT2D):c.7558C>T (p.Arg2520Trp) rs759516070 0.00002
NM_003482.4(KMT2D):c.7572G>A (p.Thr2524=) rs772878105 0.00002
NM_003482.4(KMT2D):c.8405C>T (p.Ala2802Val) rs1239905273 0.00002
NM_003482.4(KMT2D):c.8924G>A (p.Arg2975His) rs770885860 0.00002
NM_003482.4(KMT2D):c.9101A>G (p.Asn3034Ser) rs748817042 0.00002
NM_003482.4(KMT2D):c.935C>A (p.Ala312Asp) rs750484458 0.00002
NM_003482.4(KMT2D):c.9377G>T (p.Gly3126Val) rs772418918 0.00002
NM_003482.4(KMT2D):c.9431C>T (p.Ala3144Val) rs558965718 0.00002
NM_003482.4(KMT2D):c.9563C>T (p.Thr3188Met) rs762206028 0.00002
NM_003611.3(OFD1):c.12+16C>T rs375680703 0.00002
NM_003611.3(OFD1):c.1400G>A (p.Arg467His) rs375577267 0.00002
NM_003611.3(OFD1):c.1703G>A (p.Arg568His) rs376012267 0.00002
NM_003611.3(OFD1):c.1837A>G (p.Thr613Ala) rs775062213 0.00002
NM_003611.3(OFD1):c.2025G>T (p.Leu675Phe) rs149473481 0.00002
NM_003611.3(OFD1):c.2305A>G (p.Arg769Gly) rs759933503 0.00002
NM_003611.3(OFD1):c.2327C>G (p.Thr776Ser) rs1602907726 0.00002
NM_003611.3(OFD1):c.382G>C (p.Val128Leu) rs766600036 0.00002
NM_003611.3(OFD1):c.569G>A (p.Arg190His) rs150560046 0.00002
NM_003995.4(NPR2):c.2047+11C>T rs200583592 0.00002
NM_004004.6(GJB2):c.510C>T (p.Asn170=) rs763068053 0.00002
NM_004168.4(SDHA):c.1394G>A (p.Arg465Gln) rs138277996 0.00002
NM_004239.4(TRIP11):c.1098G>A (p.Lys366=) rs201503194 0.00002
NM_004260.4(RECQL4):c.2464-4G>A rs371431265 0.00002
NM_004260.4(RECQL4):c.2952C>T (p.Ser984=) rs373784742 0.00002
NM_004260.4(RECQL4):c.969C>T (p.Ser323=) rs745658597 0.00002
NM_004304.5(ALK):c.4480G>A (p.Gly1494Arg) rs199940609 0.00002
NM_004370.6(COL12A1):c.1647G>A (p.Thr549=) rs761187970 0.00002
NM_004370.6(COL12A1):c.2437+13T>C rs545025813 0.00002
NM_004380.3(CREBBP):c.2679G>A (p.Ser893=) rs587783474 0.00002
NM_004380.3(CREBBP):c.4073T>C (p.Phe1358Ser) rs762638591 0.00002
NM_004380.3(CREBBP):c.5204C>T (p.Thr1735Met) rs1064793090 0.00002
NM_004380.3(CREBBP):c.6728C>T (p.Ala2243Val) rs190153828 0.00002
NM_004415.4(DSP):c.6655G>A (p.Val2219Ile) rs397516953 0.00002
NM_004456.5(EZH2):c.1459G>A (p.Ala487Thr) rs201135441 0.00002
NM_004484.4(GPC3):c.897C>T (p.Tyr299=) rs200421668 0.00002
NM_004813.4(PEX16):c.694+11C>T rs763840804 0.00002
NM_005027.4(PIK3R2):c.304G>A (p.Asp102Asn) rs774502328 0.00002
NM_005045.4(RELN):c.1278C>T (p.Ser426=) rs755465811 0.00002
NM_005045.4(RELN):c.1880A>G (p.Glu627Gly) rs779007436 0.00002
NM_005045.4(RELN):c.1915C>A (p.Leu639Ile) rs150988816 0.00002
NM_005045.4(RELN):c.4296A>G (p.Gly1432=) rs757003273 0.00002
NM_005045.4(RELN):c.7943T>C (p.Leu2648Pro) rs566580675 0.00002
NM_005184.4(CALM3):c.249G>A (p.Glu83=) rs755348000 0.00002
NM_005219.5(DIAPH1):c.65G>A (p.Ser22Asn) rs1474809251 0.00002
NM_005359.6(SMAD4):c.*5080A>G rs532965680 0.00002
NM_005465.7(AKT3):c.1163+16C>T rs781443210 0.00002
NM_005592.4(MUSK):c.2599G>T (p.Val867Leu) rs370094071 0.00002
NM_005629.4(SLC6A8):c.1080C>T (p.Phe360=) rs782576449 0.00002
NM_005629.4(SLC6A8):c.1293C>T (p.Asp431=) rs371599516 0.00002
NM_005629.4(SLC6A8):c.1395C>T (p.Gly465=) rs782302903 0.00002
NM_005629.4(SLC6A8):c.1620G>A (p.Val540=) rs781947969 0.00002
NM_005629.4(SLC6A8):c.1879A>C (p.Lys627Gln) rs201637740 0.00002
NM_005629.4(SLC6A8):c.537C>T (p.Pro179=) rs202136567 0.00002
NM_005629.4(SLC6A8):c.852C>T (p.Gly284=) rs1557044971 0.00002
NM_005660.3(SLC35A2):c.1112C>T (p.Pro371Leu) rs782673464 0.00002
NM_005660.3(SLC35A2):c.1129C>T (p.Arg377Cys) rs782483874 0.00002
NM_005660.3(SLC35A2):c.279C>T (p.Asn93=) rs782206039 0.00002
NM_005660.3(SLC35A2):c.345C>T (p.Leu115=) rs782476110 0.00002
NM_005660.3(SLC35A2):c.562G>A (p.Gly188Ser) rs1023107993 0.00002
NM_005751.5(AKAP9):c.10887T>C (p.Gly3629=) rs761734539 0.00002
NM_006031.6(PCNT):c.9174G>A (p.Ala3058=) rs554275370 0.00002
NM_006121.4(KRT1):c.1107C>T (p.Ala369=) rs183980482 0.00002
NM_006218.4(PIK3CA):c.1686C>T (p.Pro562=) rs201815216 0.00002
NM_006265.3(RAD21):c.145-4A>G rs752213732 0.00002
NM_006306.4(SMC1A):c.174A>G (p.Val58=) rs200428075 0.00002
NM_006306.4(SMC1A):c.3692A>G (p.Asn1231Ser) rs782012594 0.00002
NM_006329.4(FBLN5):c.-458G>A rs369441736 0.00002
NM_006939.4(SOS2):c.3641A>T (p.Asp1214Val) rs772043913 0.00002
NM_007215.4(POLG2):c.1105A>G (p.Arg369Gly) rs201936720 0.00002
NM_007373.4(SHOC2):c.*914G>A rs189223963 0.00002
NM_012330.4(KAT6B):c.510G>A (p.Pro170=) rs750020725 0.00002
NM_012414.4(RAB3GAP2):c.2008C>G (p.Leu670Val) rs201613456 0.00002
NM_012414.4(RAB3GAP2):c.2417-4A>G rs577016598 0.00002
NM_012431.3(SEMA3E):c.1725A>G (p.Gln575=) rs574901886 0.00002
NM_013275.6(ANKRD11):c.4404A>G (p.Lys1468=) rs745469592 0.00002
NM_013275.6(ANKRD11):c.7569+14C>A rs758994547 0.00002
NM_014244.5(ADAMTS2):c.71C>T (p.Pro24Leu) rs193247334 0.00002
NM_014795.4(ZEB2):c.1336C>T (p.Pro446Ser) rs1435380197 0.00002
NM_014795.4(ZEB2):c.1354A>G (p.Thr452Ala) rs781770369 0.00002
NM_014795.4(ZEB2):c.220G>A (p.Val74Met) rs767169568 0.00002
NM_014795.4(ZEB2):c.2215A>G (p.Ile739Val) rs730881178 0.00002
NM_014795.4(ZEB2):c.2248A>G (p.Ser750Gly) rs730881196 0.00002
NM_014795.4(ZEB2):c.2479C>T (p.Pro827Ser) rs780045123 0.00002
NM_014795.4(ZEB2):c.2993T>C (p.Met998Thr) rs553833674 0.00002
NM_014795.4(ZEB2):c.357T>G (p.Thr119=) rs776250942 0.00002
NM_014795.4(ZEB2):c.55A>T (p.Asn19Tyr) rs967864705 0.00002
NM_014795.4(ZEB2):c.981G>A (p.Ser327=) rs201579452 0.00002
NM_015294.6(TRIM37):c.-236A>G rs371575547 0.00002
NM_015335.5(MED13L):c.2351G>A (p.Arg784Gln) rs749407155 0.00002
NM_015335.5(MED13L):c.3069G>A (p.Thr1023=) rs780149328 0.00002
NM_015338.6(ASXL1):c.3273C>T (p.Ala1091=) rs377353179 0.00002
NM_015443.4(KANSL1):c.1106A>G (p.Asn369Ser) rs139564524 0.00002
NM_015443.4(KANSL1):c.2111C>T (p.Ser704Leu) rs762407803 0.00002
NM_015443.4(KANSL1):c.2406C>A (p.His802Gln) rs773681267 0.00002
NM_016169.4(SUFU):c.911-16A>C rs777832144 0.00002
NM_017617.5(NOTCH1):c.102C>T (p.Gly34=) rs777575093 0.00002
NM_017617.5(NOTCH1):c.1041C>T (p.Gly347=) rs553606088 0.00002
NM_017617.5(NOTCH1):c.1136A>G (p.Asn379Ser) rs752255207 0.00002
NM_017617.5(NOTCH1):c.1250C>T (p.Ser417Leu) rs757631575 0.00002
NM_017617.5(NOTCH1):c.1269C>T (p.Cys423=) rs775219296 0.00002
NM_017617.5(NOTCH1):c.1800C>T (p.Cys600=) rs755070916 0.00002
NM_017617.5(NOTCH1):c.1953C>T (p.Asp651=) rs752168856 0.00002
NM_017617.5(NOTCH1):c.2086G>A (p.Gly696Ser) rs373556820 0.00002
NM_017617.5(NOTCH1):c.2207+7G>A rs138935812 0.00002
NM_017617.5(NOTCH1):c.226G>A (p.Val76Met) rs532574807 0.00002
NM_017617.5(NOTCH1):c.2441A>G (p.Lys814Arg) rs747529236 0.00002
NM_017617.5(NOTCH1):c.2482G>A (p.Val828Met) rs772945824 0.00002
NM_017617.5(NOTCH1):c.2668G>A (p.Gly890Ser) rs1248255443 0.00002
NM_017617.5(NOTCH1):c.2917G>A (p.Ala973Thr) rs200699541 0.00002
NM_017617.5(NOTCH1):c.3171+8C>T rs985717588 0.00002
NM_017617.5(NOTCH1):c.3286G>A (p.Val1096Met) rs369730402 0.00002
NM_017617.5(NOTCH1):c.334C>T (p.Arg112Cys) rs1399392600 0.00002
NM_017617.5(NOTCH1):c.3701G>A (p.Arg1234Gln) rs773926521 0.00002
NM_017617.5(NOTCH1):c.3741G>C (p.Gln1247His) rs781658171 0.00002
NM_017617.5(NOTCH1):c.3748G>A (p.Gly1250Ser) rs771192471 0.00002
NM_017617.5(NOTCH1):c.3770C>T (p.Pro1257Leu) rs200245794 0.00002
NM_017617.5(NOTCH1):c.4252G>A (p.Ala1418Thr) rs1290588213 0.00002
NM_017617.5(NOTCH1):c.4326G>A (p.Pro1442=) rs376469653 0.00002
NM_017617.5(NOTCH1):c.4348G>A (p.Glu1450Lys) rs147841035 0.00002
NM_017617.5(NOTCH1):c.4543C>T (p.Leu1515Phe) rs765839822 0.00002
NM_017617.5(NOTCH1):c.4746G>A (p.Pro1582=) rs886038974 0.00002
NM_017617.5(NOTCH1):c.5069C>T (p.Ser1690Leu) rs552065719 0.00002
NM_017617.5(NOTCH1):c.5208C>T (p.Phe1736=) rs781386640 0.00002
NM_017617.5(NOTCH1):c.5398G>A (p.Ala1800Thr) rs569203312 0.00002
NM_017617.5(NOTCH1):c.5562C>T (p.Arg1854=) rs777125560 0.00002
NM_017617.5(NOTCH1):c.5720C>T (p.Pro1907Leu) rs970443298 0.00002
NM_017617.5(NOTCH1):c.5837G>A (p.Arg1946His) rs777423973 0.00002
NM_017617.5(NOTCH1):c.5913C>T (p.Ala1971=) rs768799805 0.00002
NM_017617.5(NOTCH1):c.5935-11C>T rs768074148 0.00002
NM_017617.5(NOTCH1):c.6054C>T (p.His2018=) rs202198360 0.00002
NM_017617.5(NOTCH1):c.6083-10T>G rs1380449680 0.00002
NM_017617.5(NOTCH1):c.6228C>T (p.Thr2076=) rs531156367 0.00002
NM_017617.5(NOTCH1):c.6229G>A (p.Ala2077Thr) rs759749364 0.00002
NM_017617.5(NOTCH1):c.6365C>T (p.Pro2122Leu) rs767587816 0.00002
NM_017617.5(NOTCH1):c.645C>T (p.Cys215=) rs974424401 0.00002
NM_017617.5(NOTCH1):c.6814C>T (p.Arg2272Cys) rs752505638 0.00002
NM_017617.5(NOTCH1):c.6979C>T (p.Arg2327Trp) rs751007903 0.00002
NM_017617.5(NOTCH1):c.7260C>T (p.Gly2420=) rs1032110986 0.00002
NM_017617.5(NOTCH1):c.7372C>A (p.Pro2458Thr) rs752802795 0.00002
NM_017617.5(NOTCH1):c.775G>A (p.Asp259Asn) rs763187824 0.00002
NM_017780.4(CHD7):c.1244C>T (p.Pro415Leu) rs765180149 0.00002
NM_017780.4(CHD7):c.1261C>A (p.Pro421Thr) rs758228667 0.00002
NM_017780.4(CHD7):c.215A>G (p.Tyr72Cys) rs767819417 0.00002
NM_017780.4(CHD7):c.2689C>T (p.Arg897Trp) rs371742009 0.00002
NM_017780.4(CHD7):c.2690G>A (p.Arg897Gln) rs773685788 0.00002
NM_017780.4(CHD7):c.2824A>G (p.Thr942Ala) rs370194460 0.00002
NM_017780.4(CHD7):c.296C>T (p.Ala99Val) rs772466277 0.00002
NM_017780.4(CHD7):c.304C>A (p.His102Asn) rs761253760 0.00002
NM_017780.4(CHD7):c.3238A>G (p.Ile1080Val) rs1271767085 0.00002
NM_017780.4(CHD7):c.3696C>T (p.Gly1232=) rs774107363 0.00002
NM_017780.4(CHD7):c.4720A>T (p.Met1574Leu) rs371385411 0.00002
NM_017780.4(CHD7):c.500C>T (p.Pro167Leu) rs61742851 0.00002
NM_017780.4(CHD7):c.5017G>A (p.Asp1673Asn) rs769563309 0.00002
NM_017780.4(CHD7):c.5336C>T (p.Ala1779Val) rs753913368 0.00002
NM_017780.4(CHD7):c.5467A>G (p.Met1823Val) rs769931428 0.00002
NM_017780.4(CHD7):c.6199C>G (p.Gln2067Glu) rs766862122 0.00002
NM_017780.4(CHD7):c.6598G>A (p.Gly2200Arg) rs747357928 0.00002
NM_017780.4(CHD7):c.6673G>A (p.Ala2225Thr) rs374408098 0.00002
NM_017780.4(CHD7):c.6680C>G (p.Thr2227Ser) rs1416622951 0.00002
NM_017780.4(CHD7):c.694C>A (p.Pro232Thr) rs554647169 0.00002
NM_017780.4(CHD7):c.7145C>T (p.Thr2382Met) rs189926848 0.00002
NM_017780.4(CHD7):c.7414A>G (p.Thr2472Ala) rs372546969 0.00002
NM_017780.4(CHD7):c.755C>T (p.Ser252Leu) rs371930390 0.00002
NM_017780.4(CHD7):c.756G>A (p.Ser252=) rs371000762 0.00002
NM_017780.4(CHD7):c.7702C>T (p.Arg2568Trp) rs775888715 0.00002
NM_017780.4(CHD7):c.8188G>A (p.Ala2730Thr) rs757707495 0.00002
NM_017780.4(CHD7):c.8507C>T (p.Pro2836Leu) rs925177812 0.00002
NM_017780.4(CHD7):c.8594C>T (p.Ser2865Leu) rs147534616 0.00002
NM_017780.4(CHD7):c.8759G>C (p.Gly2920Ala) rs769008751 0.00002
NM_017780.4(CHD7):c.8821A>G (p.Lys2941Glu) rs201793562 0.00002
NM_017946.4(FKBP14):c.48_50del (p.Leu17del) rs564626031 0.00002
NM_018006.5(TRMU):c.272A>G (p.Lys91Arg) rs138044544 0.00002
NM_018026.4(PACS1):c.1457G>A (p.Ser486Asn) rs770126115 0.00002
NM_018026.4(PACS1):c.1838+3A>G rs775980710 0.00002
NM_018026.4(PACS1):c.684C>T (p.Gly228=) rs548594376 0.00002
NM_018486.3(HDAC8):c.1047G>A (p.Thr349=) rs782747900 0.00002
NM_018486.3(HDAC8):c.1082G>A (p.Arg361Gln) rs781862582 0.00002
NM_018486.3(HDAC8):c.111+20A>C rs782224300 0.00002
NM_018486.3(HDAC8):c.1111+16C>T rs1039038766 0.00002
NM_018486.3(HDAC8):c.22G>A (p.Ala8Thr) rs200093133 0.00002
NM_018486.3(HDAC8):c.516T>A (p.Ile172=) rs61752447 0.00002
NM_020320.5(RARS2):c.-13C>T rs200228607 0.00002
NM_020458.4(TTC7A):c.570A>G (p.Thr190=) rs565292434 0.00002
NM_020529.3(NFKBIA):c.326A>G (p.Asn109Ser) rs150221265 0.00002
NM_020975.6(RET):c.1941C>T (p.Ile647=) rs75225191 0.00002
NM_020975.6(RET):c.220G>A (p.Gly74Ser) rs764938319 0.00002
NM_020975.6(RET):c.2226G>A (p.Thr742=) rs762876946 0.00002
NM_020975.6(RET):c.2393-9C>T rs567543719 0.00002
NM_020975.6(RET):c.2802-19G>A rs765569833 0.00002
NM_021625.5(TRPV4):c.1465G>A (p.Ala489Thr) rs758280554 0.00002
NM_022336.4(EDAR):c.*1678C>T rs565595816 0.00002
NM_022370.4(ROBO3):c.3300G>A (p.Pro1100=) rs550792725 0.00002
NM_022455.5(NSD1):c.3286C>T (p.His1096Tyr) rs202208033 0.00002
NM_022455.5(NSD1):c.5082C>T (p.Thr1694=) rs587784136 0.00002
NM_023110.3(FGFR1):c.448+20C>T rs767029419 0.00002
NM_024312.5(GNPTAB):c.513A>G (p.Ala171=) rs371813268 0.00002
NM_024757.5(EHMT1):c.1107G>A (p.Ala369=) rs540617218 0.00002
NM_024757.5(EHMT1):c.1160G>A (p.Arg387His) rs776502547 0.00002
NM_024757.5(EHMT1):c.1319C>T (p.Pro440Leu) rs146814571 0.00002
NM_024757.5(EHMT1):c.2093C>T (p.Pro698Leu) rs371829525 0.00002
NM_024757.5(EHMT1):c.2097G>A (p.Thr699=) rs756140987 0.00002
NM_024757.5(EHMT1):c.2382+10C>T rs780312766 0.00002
NM_024757.5(EHMT1):c.2405G>C (p.Cys802Ser) rs763767150 0.00002
NM_024757.5(EHMT1):c.2670G>T (p.Lys890Asn) rs1346178132 0.00002
NM_024757.5(EHMT1):c.2739G>A (p.Ala913=) rs764507326 0.00002
NM_024757.5(EHMT1):c.2748C>T (p.Ser916=) rs756950236 0.00002
NM_024757.5(EHMT1):c.3093C>T (p.Ser1031=) rs62590780 0.00002
NM_024757.5(EHMT1):c.3107G>T (p.Ser1036Ile) rs369941047 0.00002
NM_024757.5(EHMT1):c.334G>A (p.Asp112Asn) rs763562241 0.00002
NM_024757.5(EHMT1):c.337G>A (p.Asp113Asn) rs752755202 0.00002
NM_024757.5(EHMT1):c.3398C>T (p.Thr1133Met) rs754986694 0.00002
NM_024757.5(EHMT1):c.497G>A (p.Ser166Asn) rs778503301 0.00002
NM_024757.5(EHMT1):c.586G>A (p.Ala196Thr) rs768398355 0.00002
NM_024757.5(EHMT1):c.797A>G (p.Tyr266Cys) rs753105081 0.00002
NM_024996.7(GFM1):c.77A>G (p.Lys26Arg) rs574200635 0.00002
NM_025136.4(OPA3):c.*1095C>A rs148228876 0.00002
NM_025136.4(OPA3):c.*4439C>T rs538388889 0.00002
NM_025136.4(OPA3):c.*5783G>A rs550679720 0.00002
NM_032043.3(BRIP1):c.1433A>G (p.His478Arg) rs45501097 0.00002
NM_032043.3(BRIP1):c.924A>G (p.Lys308=) rs374974885 0.00002
NM_032861.4(SERAC1):c.266-11A>G rs574469098 0.00002
NM_080632.3(UPF3B):c.667A>G (p.Ile223Val) rs147945173 0.00002
NM_080680.3(COL11A2):c.-82C>G rs539232957 0.00002
NM_080680.3(COL11A2):c.3706C>T (p.Arg1236Cys) rs751612997 0.00002
NM_080916.3(DGUOK):c.*119C>T rs576927038 0.00002
NM_145068.4(TRPV3):c.784+11C>T rs757838946 0.00002
NM_152564.5(VPS13B):c.1529G>A (p.Arg510His) rs771667880 0.00002
NM_152594.3(SPRED1):c.879G>A (p.Leu293=) rs535687467 0.00002
NM_153490.3(KRT13):c.1352G>A (p.Arg451His) rs550693344 0.00002
NM_153704.6(TMEM67):c.2440-6T>C rs532418578 0.00002
NM_153717.3(EVC):c.1313G>A (p.Arg438Gln) rs373718642 0.00002
NM_176787.5(PIGN):c.1748G>A (p.Arg583Gln) rs1244878709 0.00002
NM_181486.4(TBX5):c.*1331T>G rs535072534 0.00002
NM_207361.6(FREM2):c.6826G>A (p.Val2276Met) rs555028352 0.00002
NM_000044.6(AR):c.2191G>A (p.Val731Met) rs137852571 0.00001
NM_000046.5(ARSB):c.313-12T>C rs574816959 0.00001
NM_000052.7(ATP7A):c.1209A>G (p.Pro403=) rs782744809 0.00001
NM_000052.7(ATP7A):c.1224A>G (p.Ile408Met) rs373634671 0.00001
NM_000052.7(ATP7A):c.1313T>C (p.Met438Thr) rs377651753 0.00001
NM_000052.7(ATP7A):c.142G>A (p.Ala48Thr) rs1557231562 0.00001
NM_000052.7(ATP7A):c.1474A>G (p.Ile492Val) rs781874593 0.00001
NM_000052.7(ATP7A):c.1993A>C (p.Met665Leu) rs879254156 0.00001
NM_000052.7(ATP7A):c.2279A>G (p.Tyr760Cys) rs782006661 0.00001
NM_000052.7(ATP7A):c.2947A>G (p.Thr983Ala) rs1023683992 0.00001
NM_000052.7(ATP7A):c.3416A>G (p.Asp1139Gly) rs782154314 0.00001
NM_000052.7(ATP7A):c.4066C>T (p.Arg1356Trp) rs370736173 0.00001
NM_000052.7(ATP7A):c.4067G>A (p.Arg1356Gln) rs782260602 0.00001
NM_000052.7(ATP7A):c.4206T>C (p.Leu1402=) rs782505602 0.00001
NM_000052.7(ATP7A):c.4268G>A (p.Arg1423Gln) rs368091927 0.00001
NM_000057.4(BLM):c.1490A>G (p.Gln497Arg) rs368547042 0.00001
NM_000057.4(BLM):c.1825C>A (p.Pro609Thr) rs770255643 0.00001
NM_000057.4(BLM):c.204C>T (p.Thr68=) rs199927688 0.00001
NM_000057.4(BLM):c.261G>A (p.Lys87=) rs372668612 0.00001
NM_000057.4(BLM):c.3878A>G (p.Glu1293Gly) rs746979958 0.00001
NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val) rs56191579 0.00001
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln) rs11571640 0.00001
NM_000075.4(CDK4):c.141A>C (p.Gly47=) rs863224320 0.00001
NM_000075.4(CDK4):c.195T>C (p.Ala65=) rs770618992 0.00001
NM_000075.4(CDK4):c.210T>C (p.Asn70=) rs1162061851 0.00001
NM_000075.4(CDK4):c.222G>A (p.Leu74=) rs565645344 0.00001
NM_000075.4(CDK4):c.228C>T (p.Asp76=) rs772531745 0.00001
NM_000075.4(CDK4):c.24A>C (p.Pro8=) rs756789126 0.00001
NM_000075.4(CDK4):c.252C>T (p.Asp84=) rs780590939 0.00001
NM_000075.4(CDK4):c.288A>G (p.Val96=) rs754092304 0.00001
NM_000075.4(CDK4):c.309T>C (p.Tyr103=) rs554603181 0.00001
NM_000075.4(CDK4):c.348G>A (p.Thr116=) rs761353033 0.00001
NM_000075.4(CDK4):c.402T>C (p.Asn134=) rs537039467 0.00001
NM_000075.4(CDK4):c.481C>T (p.Leu161=) rs796860515 0.00001
NM_000075.4(CDK4):c.486C>G (p.Ala162=) rs1595110441 0.00001
NM_000075.4(CDK4):c.501C>T (p.Tyr167=) rs1316207187 0.00001
NM_000075.4(CDK4):c.504G>A (p.Gln168=) rs770086242 0.00001
NM_000075.4(CDK4):c.519C>T (p.Pro173=) rs747084709 0.00001
NM_000075.4(CDK4):c.534C>T (p.Leu178=) rs11547327 0.00001
NM_000075.4(CDK4):c.543A>C (p.Arg181=) rs745772539 0.00001
NM_000075.4(CDK4):c.597T>C (p.Ser199=) rs1260582581 0.00001
NM_000075.4(CDK4):c.60G>A (p.Val20=) rs1595111186 0.00001
NM_000075.4(CDK4):c.645T>C (p.Cys215=) rs751861614 0.00001
NM_000075.4(CDK4):c.654T>C (p.Ser218=) rs766518915 0.00001
NM_000075.4(CDK4):c.660C>T (p.Ala220=) rs773490152 0.00001
NM_000075.4(CDK4):c.663C>T (p.Asp221=) rs1205343806 0.00001
NM_000075.4(CDK4):c.777G>A (p.Ser259=) rs3211622 0.00001
NM_000075.4(CDK4):c.795G>A (p.Glu265=) rs747521511 0.00001
NM_000075.4(CDK4):c.798G>A (p.Glu266=) rs780522588 0.00001
NM_000075.4(CDK4):c.801G>A (p.Ser267=) rs201744062 0.00001
NM_000075.4(CDK4):c.843C>T (p.His281=) rs750061873 0.00001
NM_000075.4(CDK4):c.846G>A (p.Lys282=) rs1248502310 0.00001
NM_000075.4(CDK4):c.864A>T (p.Arg288=) rs1369349270 0.00001
NM_000075.4(CDK4):c.87C>T (p.Gly29=) rs1555201376 0.00001
NM_000075.4(CDK4):c.882T>C (p.Tyr294=) rs1307304019 0.00001
NM_000077.5(CDKN2A):c.151-4G>C rs529380972 0.00001
NM_000088.4(COL1A1):c.-23G>A rs200689194 0.00001
NM_000088.4(COL1A1):c.103+16T>G rs548069648 0.00001
NM_000088.4(COL1A1):c.1045G>T (p.Val349Phe) rs72645362 0.00001
NM_000088.4(COL1A1):c.133C>G (p.Leu45Val) rs546629502 0.00001
NM_000088.4(COL1A1):c.1984-13C>A rs772638625 0.00001
NM_000088.4(COL1A1):c.2049C>T (p.Gly683=) rs149352055 0.00001
NM_000088.4(COL1A1):c.2274C>T (p.Gly758=) rs200111312 0.00001
NM_000088.4(COL1A1):c.2572G>A (p.Ala858Thr) rs773428245 0.00001
NM_000088.4(COL1A1):c.3025C>T (p.Pro1009Ser) rs794727663 0.00001
NM_000088.4(COL1A1):c.328G>A (p.Val110Ile) rs375823086 0.00001
NM_000088.4(COL1A1):c.3815-10C>T rs770568983 0.00001
NM_000088.4(COL1A1):c.393A>T (p.Arg131=) rs768576692 0.00001
NM_000088.4(COL1A1):c.3985A>T (p.Ser1329Cys) rs778077946 0.00001
NM_000089.4(COL1A2):c.2861T>C (p.Ile954Thr) rs538844573 0.00001
NM_000089.4(COL1A2):c.3883T>C (p.Ser1295Pro) rs757449082 0.00001
NM_000090.4(COL3A1):c.1509+7A>C rs201740954 0.00001
NM_000090.4(COL3A1):c.1870-14T>C rs201315795 0.00001
NM_000090.4(COL3A1):c.515A>C (p.Tyr172Ser) rs771654029 0.00001
NM_000090.4(COL3A1):c.80-13A>C rs566189676 0.00001
NM_000093.5(COL5A1):c.*1260G>A rs557696379 0.00001
NM_000093.5(COL5A1):c.1000G>A (p.Gly334Ser) rs751277764 0.00001
NM_000093.5(COL5A1):c.1021G>A (p.Val341Met) rs756703956 0.00001
NM_000093.5(COL5A1):c.1123G>A (p.Glu375Lys) rs777789161 0.00001
NM_000093.5(COL5A1):c.1132A>C (p.Thr378Pro) rs757379111 0.00001
NM_000093.5(COL5A1):c.1141G>A (p.Ala381Thr) rs768269251 0.00001
NM_000093.5(COL5A1):c.1172C>T (p.Pro391Leu) rs373102877 0.00001
NM_000093.5(COL5A1):c.1264G>C (p.Asp422His) rs760798318 0.00001
NM_000093.5(COL5A1):c.1280C>T (p.Pro427Leu) rs751337133 0.00001
NM_000093.5(COL5A1):c.1484C>T (p.Pro495Leu) rs144909439 0.00001
NM_000093.5(COL5A1):c.1499C>T (p.Pro500Leu) rs778866843 0.00001
NM_000093.5(COL5A1):c.1561A>G (p.Met521Val) rs535161301 0.00001
NM_000093.5(COL5A1):c.1750G>A (p.Glu584Lys) rs764609002 0.00001
NM_000093.5(COL5A1):c.1943C>G (p.Pro648Arg) rs143211526 0.00001
NM_000093.5(COL5A1):c.1978G>A (p.Asp660Asn) rs990265730 0.00001
NM_000093.5(COL5A1):c.197G>A (p.Arg66Gln) rs146074704 0.00001
NM_000093.5(COL5A1):c.2057C>T (p.Pro686Leu) rs775102627 0.00001
NM_000093.5(COL5A1):c.2066C>T (p.Pro689Leu) rs1389473144 0.00001
NM_000093.5(COL5A1):c.2222C>T (p.Pro741Leu) rs1422097890 0.00001
NM_000093.5(COL5A1):c.2264T>G (p.Met755Arg) rs769653444 0.00001
NM_000093.5(COL5A1):c.2425G>A (p.Glu809Lys) rs1032017865 0.00001
NM_000093.5(COL5A1):c.243G>A (p.Ala81=) rs540291731 0.00001
NM_000093.5(COL5A1):c.2485-11C>T rs756350498 0.00001
NM_000093.5(COL5A1):c.253G>A (p.Ala85Thr) rs756903629 0.00001
NM_000093.5(COL5A1):c.2653A>G (p.Ile885Val) rs781756159 0.00001
NM_000093.5(COL5A1):c.2681A>G (p.Asn894Ser) rs542939338 0.00001
NM_000093.5(COL5A1):c.2709T>C (p.Pro903=) rs749844592 0.00001
NM_000093.5(COL5A1):c.2723C>T (p.Pro908Leu) rs772211736 0.00001
NM_000093.5(COL5A1):c.2725C>T (p.Arg909Trp) rs1257715072 0.00001
NM_000093.5(COL5A1):c.277+9C>T rs748589808 0.00001
NM_000093.5(COL5A1):c.2771G>A (p.Arg924Gln) rs768711320 0.00001
NM_000093.5(COL5A1):c.2812G>C (p.Gly938Arg) rs751950836 0.00001
NM_000093.5(COL5A1):c.2817C>T (p.Asp939=) rs750716466 0.00001
NM_000093.5(COL5A1):c.295G>T (p.Asp99Tyr) rs774095835 0.00001
NM_000093.5(COL5A1):c.3055C>T (p.Pro1019Ser) rs193920927 0.00001
NM_000093.5(COL5A1):c.3064C>T (p.Pro1022Ser) rs536758248 0.00001
NM_000093.5(COL5A1):c.3096T>A (p.Ala1032=) rs140590510 0.00001
NM_000093.5(COL5A1):c.368A>G (p.Gln123Arg) rs771075651 0.00001
NM_000093.5(COL5A1):c.370G>A (p.Gly124Ser) rs1356081271 0.00001
NM_000093.5(COL5A1):c.3812C>T (p.Pro1271Leu) rs771146636 0.00001
NM_000093.5(COL5A1):c.3868G>A (p.Ala1290Thr) rs863223451 0.00001
NM_000093.5(COL5A1):c.3947C>G (p.Pro1316Arg) rs371550819 0.00001
NM_000093.5(COL5A1):c.4015-19C>T rs527971001 0.00001
NM_000093.5(COL5A1):c.4289C>G (p.Ala1430Gly) rs765920886 0.00001
NM_000093.5(COL5A1):c.4370C>T (p.Pro1457Leu) rs201875250 0.00001
NM_000093.5(COL5A1):c.4586C>A (p.Pro1529His) rs201582108 0.00001
NM_000093.5(COL5A1):c.458C>A (p.Pro153His) rs771925785 0.00001
NM_000093.5(COL5A1):c.4613C>T (p.Pro1538Leu) rs775335297 0.00001
NM_000093.5(COL5A1):c.4693C>T (p.Pro1565Ser) rs770278589 0.00001
NM_000093.5(COL5A1):c.4750C>T (p.Arg1584Trp) rs758378927 0.00001
NM_000093.5(COL5A1):c.4813G>A (p.Ala1605Thr) rs1024649360 0.00001
NM_000093.5(COL5A1):c.4815G>A (p.Ala1605=) rs755728242 0.00001
NM_000093.5(COL5A1):c.4911C>T (p.Arg1637=) rs778483767 0.00001
NM_000093.5(COL5A1):c.4928A>G (p.Gln1643Arg) rs730880064 0.00001
NM_000093.5(COL5A1):c.4943A>G (p.Asp1648Gly) rs746071518 0.00001
NM_000093.5(COL5A1):c.508C>G (p.Leu170Val) rs188120737 0.00001
NM_000093.5(COL5A1):c.5125C>T (p.Arg1709Cys) rs375586129 0.00001
NM_000093.5(COL5A1):c.5152G>A (p.Ala1718Thr) rs760992656 0.00001
NM_000093.5(COL5A1):c.5206G>A (p.Ala1736Thr) rs753339980 0.00001
NM_000093.5(COL5A1):c.5217C>A (p.His1739Gln) rs869025374 0.00001
NM_000093.5(COL5A1):c.5224G>A (p.Val1742Ile) rs946316218 0.00001
NM_000093.5(COL5A1):c.5234A>G (p.His1745Arg) rs370607849 0.00001
NM_000093.5(COL5A1):c.5263G>A (p.Ala1755Thr) rs776748227 0.00001
NM_000093.5(COL5A1):c.5307C>T (p.Ser1769=) rs754379329 0.00001
NM_000093.5(COL5A1):c.5393C>T (p.Thr1798Met) rs761036527 0.00001
NM_000093.5(COL5A1):c.5453A>G (p.Asn1818Ser) rs863223482 0.00001
NM_000093.5(COL5A1):c.577C>T (p.Arg193Cys) rs765170704 0.00001
NM_000093.5(COL5A1):c.595A>G (p.Ile199Val) rs1041369357 0.00001
NM_000093.5(COL5A1):c.691C>T (p.Arg231Trp) rs775853003 0.00001
NM_000093.5(COL5A1):c.692G>A (p.Arg231Gln) rs373597685 0.00001
NM_000093.5(COL5A1):c.790A>C (p.Thr264Pro) rs863223440 0.00001
NM_000093.5(COL5A1):c.82C>A (p.Leu28Met) rs1312200383 0.00001
NM_000093.5(COL5A1):c.901A>G (p.Lys301Glu) rs1445863121 0.00001
NM_000112.4(SLC26A2):c.1647A>G (p.Pro549=) rs200694484 0.00001
NM_000116.5(TAFAZZIN):c.675G>A (p.Pro225=) rs201046790 0.00001
NM_000135.4(FANCA):c.1007-17T>C rs760059831 0.00001
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=) rs529199293 0.00001
NM_000135.4(FANCA):c.2152-10G>C rs557705265 0.00001
NM_000135.4(FANCA):c.3513+13T>C rs560352340 0.00001
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met) rs372706571 0.00001
NM_000135.4(FANCA):c.59G>A (p.Arg20Lys) rs376307136 0.00001
NM_000138.5(FBN1):c.*764G>A rs55717426 0.00001
NM_000138.5(FBN1):c.1837+9T>C rs56102085 0.00001
NM_000138.5(FBN1):c.3089A>G (p.Asn1030Ser) rs375996640 0.00001
NM_000138.5(FBN1):c.3740A>T (p.Asn1247Ile) rs568625812 0.00001
NM_000138.5(FBN1):c.4306G>A (p.Val1436Met) rs377338217 0.00001
NM_000138.5(FBN1):c.91G>A (p.Ala31Thr) rs371130701 0.00001
NM_000141.5(FGFR2):c.1213A>G (p.Lys405Glu) rs772986332 0.00001
NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu) rs79184941 0.00001
NM_000165.5(GJA1):c.814T>C (p.Ser272Pro) rs376074787 0.00001
NM_000168.6(GLI3):c.*28C>T rs761585918 0.00001
NM_000168.6(GLI3):c.1159T>C (p.Phe387Leu) rs370794111 0.00001
NM_000168.6(GLI3):c.1184G>A (p.Gly395Glu) rs1345463284 0.00001
NM_000168.6(GLI3):c.1464G>A (p.Ala488=) rs777294193 0.00001
NM_000168.6(GLI3):c.2432-16C>T rs761302001 0.00001
NM_000168.6(GLI3):c.3261C>T (p.Asn1087=) rs370714837 0.00001
NM_000168.6(GLI3):c.3756G>A (p.Pro1252=) rs758155716 0.00001
NM_000168.6(GLI3):c.4356G>A (p.Gln1452=) rs377535957 0.00001
NM_000168.6(GLI3):c.4636C>T (p.Pro1546Ser) rs1173657852 0.00001
NM_000168.6(GLI3):c.825T>C (p.Asp275=) rs201269781 0.00001
NM_000168.6(GLI3):c.99C>T (p.Ala33=) rs201109218 0.00001
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala) rs397515869 0.00001
NM_000181.4(GUSB):c.*55C>T rs372605666 0.00001
NM_000182.5(HADHA):c.67+17G>C rs574255291 0.00001
NM_000193.4(SHH):c.1005G>A (p.Val335=) rs587778774 0.00001
NM_000202.8(IDS):c.1143C>T (p.Leu381=) rs781805300 0.00001
NM_000202.8(IDS):c.1181-15C>T rs199965368 0.00001
NM_000202.8(IDS):c.13C>T (p.Arg5Trp) rs141900718 0.00001
NM_000203.5(IDUA):c.1525-7C>A rs184807155 0.00001
NM_000203.5(IDUA):c.245A>C (p.His82Pro) rs794727239 0.00001
NM_000214.3(JAG1):c.1367G>A (p.Gly456Asp) rs534533867 0.00001
NM_000214.3(JAG1):c.2559C>T (p.Ala853=) rs201234393 0.00001
NM_000214.3(JAG1):c.2615A>G (p.Asp872Gly) rs111706668 0.00001
NM_000214.3(JAG1):c.2779G>A (p.Val927Ile) rs770415804 0.00001
NM_000214.3(JAG1):c.3562G>A (p.Gly1188Ser) rs1051571820 0.00001
NM_000214.3(JAG1):c.702C>T (p.Cys234=) rs202109974 0.00001
NM_000218.3(KCNQ1):c.1348G>A (p.Glu450Lys) rs148266527 0.00001
NM_000218.3(KCNQ1):c.1394-18C>G rs543054197 0.00001
NM_000238.4(KCNH2):c.2133C>T (p.Ile711=) rs562349092 0.00001
NM_000256.3(MYBPC3):c.*131T>C rs570058149 0.00001
NM_000256.3(MYBPC3):c.2771C>T (p.Thr924Ile) rs200406864 0.00001
NM_000256.3(MYBPC3):c.2938C>T (p.Arg980Cys) rs397515994 0.00001
NM_000256.3(MYBPC3):c.3362G>A (p.Arg1121His) rs397516018 0.00001
NM_000263.4(NAGLU):c.1503G>A (p.Val501=) rs537078152 0.00001
NM_000264.5(PTCH1):c.*2001C>T rs531230280 0.00001
NM_000264.5(PTCH1):c.1068-8T>C rs1194212093 0.00001
NM_000264.5(PTCH1):c.1099A>G (p.Met367Val) rs753152792 0.00001
NM_000264.5(PTCH1):c.110G>A (p.Gly37Glu) rs748780206 0.00001
NM_000264.5(PTCH1):c.1137C>T (p.Tyr379=) rs587780690 0.00001
NM_000264.5(PTCH1):c.1138G>A (p.Glu380Lys) rs772903899 0.00001
NM_000264.5(PTCH1):c.1177G>A (p.Ala393Thr) rs199476091 0.00001
NM_000264.5(PTCH1):c.1238A>G (p.Gln413Arg) rs975634341 0.00001
NM_000264.5(PTCH1):c.127G>A (p.Ala43Thr) rs766536174 0.00001
NM_000264.5(PTCH1):c.158C>T (p.Pro53Leu) rs372546614 0.00001
NM_000264.5(PTCH1):c.1625A>G (p.Lys542Arg) rs758673714 0.00001
NM_000264.5(PTCH1):c.1642G>A (p.Val548Met) rs575035810 0.00001
NM_000264.5(PTCH1):c.1669A>G (p.Thr557Ala) rs772312984 0.00001
NM_000264.5(PTCH1):c.1864G>C (p.Val622Leu) rs765258547 0.00001
NM_000264.5(PTCH1):c.1955A>G (p.His652Arg) rs1420640611 0.00001
NM_000264.5(PTCH1):c.1975C>G (p.Gln659Glu) rs1268572514 0.00001
NM_000264.5(PTCH1):c.1981A>G (p.Thr661Ala) rs753850577 0.00001
NM_000264.5(PTCH1):c.2005G>A (p.Asp669Asn) rs772574714 0.00001
NM_000264.5(PTCH1):c.2045G>A (p.Arg682His) rs1366288601 0.00001
NM_000264.5(PTCH1):c.2073C>T (p.Thr691=) rs371643436 0.00001
NM_000264.5(PTCH1):c.2096G>T (p.Cys699Phe) rs547829353 0.00001
NM_000264.5(PTCH1):c.2117G>C (p.Ser706Thr) rs140497736 0.00001
NM_000264.5(PTCH1):c.2130C>A (p.Asp710Glu) rs774362306 0.00001
NM_000264.5(PTCH1):c.2149G>A (p.Asp717Asn) rs1311707136 0.00001
NM_000264.5(PTCH1):c.216C>T (p.Gly72=) rs1383963652 0.00001
NM_000264.5(PTCH1):c.2174C>G (p.Pro725Arg) rs963297092 0.00001
NM_000264.5(PTCH1):c.2270T>C (p.Phe757Ser) rs547954117 0.00001
NM_000264.5(PTCH1):c.228G>A (p.Pro76=) rs140542305 0.00001
NM_000264.5(PTCH1):c.2309G>A (p.Arg770Gln) rs762942660 0.00001
NM_000264.5(PTCH1):c.2440A>C (p.Asn814His) rs754623561 0.00001
NM_000264.5(PTCH1):c.2443A>G (p.Ile815Val) rs375257965 0.00001
NM_000264.5(PTCH1):c.2461G>A (p.Asp821Asn) rs762855028 0.00001
NM_000264.5(PTCH1):c.2615A>G (p.Asn872Ser) rs769029578 0.00001
NM_000264.5(PTCH1):c.2677C>T (p.Arg893Cys) rs753008328 0.00001
NM_000264.5(PTCH1):c.2737A>G (p.Ile913Val) rs147643145 0.00001
NM_000264.5(PTCH1):c.2824C>T (p.Arg942Trp) rs756465236 0.00001
NM_000264.5(PTCH1):c.2852A>G (p.Asp951Gly) rs752126122 0.00001
NM_000264.5(PTCH1):c.293G>A (p.Cys98Tyr) rs746435405 0.00001
NM_000264.5(PTCH1):c.2945G>A (p.Arg982Gln) rs145924695 0.00001
NM_000264.5(PTCH1):c.3088C>G (p.Leu1030Val) rs1040729718 0.00001
NM_000264.5(PTCH1):c.3128G>T (p.Cys1043Phe) rs1345405015 0.00001
NM_000264.5(PTCH1):c.3156G>A (p.Thr1052=) rs549164233 0.00001
NM_000264.5(PTCH1):c.3169-5T>C rs367654039 0.00001
NM_000264.5(PTCH1):c.3262G>A (p.Ala1088Thr) rs150217389 0.00001
NM_000264.5(PTCH1):c.3292G>A (p.Val1098Ile) rs748726158 0.00001
NM_000264.5(PTCH1):c.3322A>G (p.Ile1108Val) rs866037881 0.00001
NM_000264.5(PTCH1):c.3327C>T (p.Gly1109=) rs779950790 0.00001
NM_000264.5(PTCH1):c.3337C>T (p.Arg1113Cys) rs758520331 0.00001
NM_000264.5(PTCH1):c.3372A>T (p.Ala1124=) rs756638660 0.00001
NM_000264.5(PTCH1):c.3442A>G (p.Ile1148Val) rs369265532 0.00001
NM_000264.5(PTCH1):c.3565G>A (p.Gly1189Ser) rs767535853 0.00001
NM_000264.5(PTCH1):c.3706G>A (p.Glu1236Lys) rs779844193 0.00001
NM_000264.5(PTCH1):c.3787G>A (p.Val1263Ile) rs752831580 0.00001
NM_000264.5(PTCH1):c.3827A>G (p.His1276Arg) rs1445693994 0.00001
NM_000264.5(PTCH1):c.3836C>T (p.Pro1279Leu) rs747128318 0.00001
NM_000264.5(PTCH1):c.3886G>A (p.Gly1296Arg) rs372828014 0.00001
NM_000264.5(PTCH1):c.3920C>G (p.Pro1307Arg) rs181585555 0.00001
NM_000264.5(PTCH1):c.394+6_394+17del rs774338309 0.00001
NM_000264.5(PTCH1):c.3940C>T (p.Pro1314Ser) rs574856671 0.00001
NM_000264.5(PTCH1):c.3941C>T (p.Pro1314Leu) rs1400282737 0.00001
NM_000264.5(PTCH1):c.3943C>T (p.Pro1315Ser) rs746022197 0.00001
NM_000264.5(PTCH1):c.4046C>T (p.Pro1349Leu) rs773298544 0.00001
NM_000264.5(PTCH1):c.4050G>A (p.Arg1350=) rs748440992 0.00001
NM_000264.5(PTCH1):c.4058C>T (p.Ala1353Val) rs777096311 0.00001
NM_000264.5(PTCH1):c.454A>G (p.Met152Val) rs766905791 0.00001
NM_000264.5(PTCH1):c.463C>T (p.Pro155Ser) rs369105527 0.00001
NM_000264.5(PTCH1):c.500C>A (p.Ala167Asp) rs587780707 0.00001
NM_000264.5(PTCH1):c.514A>G (p.Thr172Ala) rs1244945859 0.00001
NM_000264.5(PTCH1):c.574A>G (p.Met192Val) rs763513784 0.00001
NM_000264.5(PTCH1):c.646A>G (p.Met216Val) rs587780709 0.00001
NM_000264.5(PTCH1):c.728C>T (p.Ser243Phe) rs141265422 0.00001
NM_000264.5(PTCH1):c.752A>G (p.Lys251Arg) rs754650075 0.00001
NM_000264.5(PTCH1):c.778G>A (p.Asp260Asn) rs765174527 0.00001
NM_000264.5(PTCH1):c.878A>G (p.Asp293Gly) rs768095469 0.00001
NM_000264.5(PTCH1):c.893A>G (p.Asn298Ser) rs1456514392 0.00001
NM_000264.5(PTCH1):c.92G>A (p.Gly31Glu) rs1329331221 0.00001
NM_000264.5(PTCH1):c.956T>C (p.Met319Thr) rs867609005 0.00001
NM_000284.4(PDHA1):c.1062G>T (p.Thr354=) rs147510382 0.00001
NM_000284.4(PDHA1):c.1065C>T (p.Ala355=) rs749696135 0.00001
NM_000284.4(PDHA1):c.292-11C>T rs776535833 0.00001
NM_000284.4(PDHA1):c.522C>T (p.Gly174=) rs769308417 0.00001
NM_000284.4(PDHA1):c.899+10T>C rs1471723235 0.00001
NM_000314.8(PTEN):c.*1237A>G rs547879223 0.00001
NM_000316.3(PTH1R):c.1152G>T (p.Val384=) rs763816214 0.00001
NM_000316.3(PTH1R):c.1212-10G>A rs202090342 0.00001
NM_000335.5(SCN5A):c.*1884G>A rs45624736 0.00001
NM_000346.4(SOX9):c.1178A>G (p.Gln393Arg) rs1016657347 0.00001
NM_000346.4(SOX9):c.657C>T (p.Ser219=) rs777250801 0.00001
NM_000346.4(SOX9):c.916G>T (p.Val306Leu) rs779386878 0.00001
NM_000348.3(SRD5A2):c.-55G>A rs577957973 0.00001
NM_000348.4(SRD5A2):c.95G>T (p.Gly32Val) rs1328422263 0.00001
NM_000353.3(TAT):c.133C>T (p.Pro45Ser) rs575372249 0.00001
NM_000368.5(TSC1):c.*651C>G rs369911288 0.00001
NM_000368.5(TSC1):c.1002G>A (p.Ser334=) rs200820603 0.00001
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile) rs77464996 0.00001
NM_000368.5(TSC1):c.2636T>C (p.Met879Thr) rs754457018 0.00001
NM_000393.5(COL5A2):c.238C>G (p.Leu80Val) rs746454126 0.00001
NM_000393.5(COL5A2):c.283G>C (p.Val95Leu) rs1200990468 0.00001
NM_000393.5(COL5A2):c.2988C>T (p.Gly996=) rs201299226 0.00001
NM_000393.5(COL5A2):c.3465C>T (p.Gly1155=) rs574148843 0.00001
NM_000393.5(COL5A2):c.383G>A (p.Arg128His) rs757439328 0.00001
NM_000393.5(COL5A2):c.3880C>T (p.Arg1294Cys) rs758136981 0.00001
NM_000393.5(COL5A2):c.4467C>T (p.Phe1489=) rs531204336 0.00001
NM_000393.5(COL5A2):c.68C>T (p.Ser23Leu) rs1335028282 0.00001
NM_000393.5(COL5A2):c.86A>G (p.Glu29Gly) rs780865605 0.00001
NM_000414.4(HSD17B4):c.1192T>C (p.Ser398Pro) rs576803491 0.00001
NM_000475.5(NR0B1):c.1365A>G (p.Thr455=) rs572970359 0.00001
NM_000489.6(ATRX):c.1042G>T (p.Val348Leu) rs1557142408 0.00001
NM_000489.6(ATRX):c.1439C>T (p.Thr480Ile) rs782751824 0.00001
NM_000489.6(ATRX):c.177C>T (p.Asn59=) rs782250182 0.00001
NM_000489.6(ATRX):c.2480G>A (p.Ser827Asn) rs897147546 0.00001
NM_000489.6(ATRX):c.2494G>A (p.Gly832Ser) rs1557139497 0.00001
NM_000489.6(ATRX):c.2597A>C (p.Lys866Thr) rs782057275 0.00001
NM_000489.6(ATRX):c.2648A>G (p.Gln883Arg) rs587778086 0.00001
NM_000489.6(ATRX):c.2656G>C (p.Glu886Gln) rs782374254 0.00001
NM_000489.6(ATRX):c.2875G>T (p.Asp959Tyr) rs1057523431 0.00001
NM_000489.6(ATRX):c.3103A>G (p.Ile1035Val) rs781916347 0.00001
NM_000489.6(ATRX):c.3306G>A (p.Arg1102=) rs782279780 0.00001
NM_000489.6(ATRX):c.3395T>C (p.Ile1132Thr) rs587780285 0.00001
NM_000489.6(ATRX):c.3538A>G (p.Ile1180Val) rs782554626 0.00001
NM_000489.6(ATRX):c.3687G>A (p.Val1229=) rs1051682 0.00001
NM_000489.6(ATRX):c.4031A>G (p.Lys1344Arg) rs782556767 0.00001
NM_000489.6(ATRX):c.4647A>G (p.Leu1549=) rs782303976 0.00001
NM_000489.6(ATRX):c.4767A>T (p.Gly1589=) rs782707742 0.00001
NM_000489.6(ATRX):c.4858A>C (p.Ser1620Arg) rs782115900 0.00001
NM_000489.6(ATRX):c.4905G>T (p.Met1635Ile) rs1045875195 0.00001
NM_000489.6(ATRX):c.5273-19A>G rs1278007263 0.00001
NM_000489.6(ATRX):c.5566+14C>T rs1003519094 0.00001
NM_000489.6(ATRX):c.5786A>G (p.Lys1929Arg) rs1569528833 0.00001
NM_000489.6(ATRX):c.6132C>T (p.Leu2044=) rs1557079262 0.00001
NM_000489.6(ATRX):c.672G>A (p.Ala224=) rs782223625 0.00001
NM_000489.6(ATRX):c.7072-3T>C rs782686541 0.00001
NM_000489.6(ATRX):c.7401G>A (p.Met2467Ile) rs782416494 0.00001
NM_000489.6(ATRX):c.917A>G (p.Asn306Ser) rs782367711 0.00001
NM_000501.4(ELN):c.134-10C>G rs782069123 0.00001
NM_000501.4(ELN):c.1640G>A (p.Gly547Asp) rs150248865 0.00001
NM_000501.4(ELN):c.1747+80C>T rs369548102 0.00001
NM_000501.4(ELN):c.233-4G>A rs782410717 0.00001
NM_000501.4(ELN):c.767C>T (p.Ala256Val) rs782285456 0.00001
NM_000503.6(EYA1):c.1276G>A (p.Gly426Ser) rs121909199 0.00001
NM_000503.6(EYA1):c.159T>C (p.Ala53=) rs768443449 0.00001
NM_000503.6(EYA1):c.403G>A (p.Gly135Ser) rs747476629 0.00001
NM_000503.6(EYA1):c.923G>A (p.Arg308Gln) rs369822742 0.00001
NM_000512.5(GALNS):c.567-3C>T rs549597016 0.00001
NM_000557.5(GDF5):c.631+6G>A rs768697784 0.00001
NM_000719.7(CACNA1C):c.3075C>T (p.Ala1025=) rs375813950 0.00001
NM_000719.7(CACNA1C):c.5926G>A (p.Gly1976Arg) rs760338273 0.00001
NM_000719.7(CACNA1C):c.960G>A (p.Thr320=) rs553958501 0.00001
NM_000890.5(KCNJ5):c.1133A>C (p.Gln378Pro) rs544093099 0.00001
NM_000891.3(KCNJ2):c.*572G>T rs566129544 0.00001
NM_000891.3(KCNJ2):c.1035C>T (p.His345=) rs201747514 0.00001
NM_000891.3(KCNJ2):c.1275G>A (p.Ser425=) rs555386610 0.00001
NM_000925.4(PDHB):c.43-18T>C rs548113809 0.00001
NM_001001433.3(STX16):c.*539G>A rs571571425 0.00001
NM_001001433.3(STX16):c.217C>T (p.Arg73Trp) rs115046538 0.00001
NM_001001433.3(STX16):c.454G>A (p.Glu152Lys) rs759831553 0.00001
NM_001002755.4(NFU1):c.420A>T (p.Thr140=) rs768949114 0.00001
NM_001005498.4(RHBDF2):c.*703G>A rs576948274 0.00001
NM_001005498.4(RHBDF2):c.1375C>G (p.Leu459Val) rs147599098 0.00001
NM_001011658.4(TRAPPC2):c.*1634G>T rs187464655 0.00001
NM_001018113.3(FANCB):c.111T>C (p.Pro37=) rs1172968993 0.00001
NM_001018113.3(FANCB):c.1149A>G (p.Lys383=) rs751649474 0.00001
NM_001018113.3(FANCB):c.1310C>T (p.Thr437Met) rs772802668 0.00001
NM_001018113.3(FANCB):c.2311A>G (p.Ser771Gly) rs750381270 0.00001
NM_001018113.3(FANCB):c.2391C>T (p.Val797=) rs778731279 0.00001
NM_001018113.3(FANCB):c.897C>T (p.Phe299=) rs753443421 0.00001
NM_001018115.3(FANCD2):c.2469A>G (p.Gln823=) rs574054963 0.00001
NM_001024630.4(RUNX2):c.*304G>A rs146801654 0.00001
NM_001024630.4(RUNX2):c.*3345G>A rs376702554 0.00001
NM_001024630.4(RUNX2):c.933G>A (p.Thr311=) rs146314825 0.00001
NM_001042492.3(NF1):c.1004A>G (p.Asn335Ser) rs758212945 0.00001
NM_001042492.3(NF1):c.1082G>C (p.Ser361Thr) rs876660103 0.00001
NM_001042492.3(NF1):c.1130T>C (p.Ile377Thr) rs878853863 0.00001
NM_001042492.3(NF1):c.1138C>T (p.Leu380Phe) rs1426127948 0.00001
NM_001042492.3(NF1):c.1264G>A (p.Ala422Thr) rs786202145 0.00001
NM_001042492.3(NF1):c.1444A>G (p.Thr482Ala) rs770201871 0.00001
NM_001042492.3(NF1):c.1472A>G (p.Tyr491Cys) rs199474757 0.00001
NM_001042492.3(NF1):c.1553C>T (p.Thr518Ile) rs587782696 0.00001
NM_001042492.3(NF1):c.1870T>C (p.Phe624Leu) rs765060733 0.00001
NM_001042492.3(NF1):c.1891G>A (p.Gly631Arg) rs757424379 0.00001
NM_001042492.3(NF1):c.1900A>G (p.Ile634Val) rs745906742 0.00001
NM_001042492.3(NF1):c.1907C>G (p.Ser636Cys) rs780412565 0.00001
NM_001042492.3(NF1):c.1921A>G (p.Ser641Gly) rs769154907 0.00001
NM_001042492.3(NF1):c.1972C>T (p.Leu658Phe) rs763901597 0.00001
NM_001042492.3(NF1):c.1991A>G (p.Asn664Ser) rs756145065 0.00001
NM_001042492.3(NF1):c.2097C>T (p.Asp699=) rs547905840 0.00001
NM_001042492.3(NF1):c.2189A>C (p.Asn730Thr) rs778033578 0.00001
NM_001042492.3(NF1):c.2257G>A (p.Ala753Thr) rs758325102 0.00001
NM_001042492.3(NF1):c.2342A>T (p.His781Leu) rs199474763 0.00001
NM_001042492.3(NF1):c.2434A>C (p.Ile812Leu) rs587781899 0.00001
NM_001042492.3(NF1):c.2476A>C (p.Ile826Leu) rs767069721 0.00001
NM_001042492.3(NF1):c.2573C>G (p.Ser858Cys) rs369493270 0.00001
NM_001042492.3(NF1):c.2581G>C (p.Ala861Pro) rs768425956 0.00001
NM_001042492.3(NF1):c.2622G>A (p.Lys874=) rs77917884 0.00001
NM_001042492.3(NF1):c.2629A>G (p.Met877Val) rs764950557 0.00001
NM_001042492.3(NF1):c.2643G>A (p.Met881Ile) rs376666221 0.00001
NM_001042492.3(NF1):c.2749G>A (p.Val917Ile) rs752455591 0.00001
NM_001042492.3(NF1):c.2794A>G (p.Met932Val) rs886052800 0.00001
NM_001042492.3(NF1):c.2902A>G (p.Met968Val) rs587781499 0.00001
NM_001042492.3(NF1):c.3039G>A (p.Thr1013=) rs876660168 0.00001
NM_001042492.3(NF1):c.304A>G (p.Met102Val) rs756370324 0.00001
NM_001042492.3(NF1):c.3359T>C (p.Val1120Ala) rs751571517 0.00001
NM_001042492.3(NF1):c.3461A>G (p.Asn1154Ser) rs371544233 0.00001
NM_001042492.3(NF1):c.3469G>A (p.Val1157Ile) rs375845704 0.00001
NM_001042492.3(NF1):c.354C>T (p.Cys118=) rs768777585 0.00001
NM_001042492.3(NF1):c.3778A>G (p.Met1260Val) rs1264981144 0.00001
NM_001042492.3(NF1):c.3906T>G (p.Asp1302Glu) rs549058591 0.00001
NM_001042492.3(NF1):c.3940T>C (p.Trp1314Arg) rs576687606 0.00001
NM_001042492.3(NF1):c.3974+9T>A rs368586596 0.00001
NM_001042492.3(NF1):c.4252A>G (p.Ile1418Val) rs369345045 0.00001
NM_001042492.3(NF1):c.4409G>A (p.Ser1470Asn) rs876660093 0.00001
NM_001042492.3(NF1):c.4421C>T (p.Ala1474Val) rs587781553 0.00001
NM_001042492.3(NF1):c.4503C>T (p.Asp1501=) rs577394398 0.00001
NM_001042492.3(NF1):c.4690C>T (p.Leu1564Phe) rs1427435078 0.00001
NM_001042492.3(NF1):c.475A>G (p.Thr159Ala) rs371192107 0.00001
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val) rs199474766 0.00001
NM_001042492.3(NF1):c.5125A>G (p.Ile1709Val) rs774720054 0.00001
NM_001042492.3(NF1):c.5344A>G (p.Ile1782Val) rs1160436761 0.00001
NM_001042492.3(NF1):c.551A>G (p.Asn184Ser) rs876659849 0.00001
NM_001042492.3(NF1):c.6316G>A (p.Val2106Ile) rs755791578 0.00001
NM_001042492.3(NF1):c.631G>A (p.Ala211Thr) rs781519491 0.00001
NM_001042492.3(NF1):c.6773G>A (p.Arg2258Gln) rs786202030 0.00001
NM_001042492.3(NF1):c.6922-6T>G rs892776409 0.00001
NM_001042492.3(NF1):c.7087A>G (p.Ile2363Val) rs137966859 0.00001
NM_001042492.3(NF1):c.7211C>T (p.Ala2404Val) rs771706364 0.00001
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val) rs565708398 0.00001
NM_001042492.3(NF1):c.7305C>T (p.Ser2435=) rs369754180 0.00001
NM_001042492.3(NF1):c.7341A>C (p.Glu2447Asp) rs878853915 0.00001
NM_001042492.3(NF1):c.7394A>G (p.Asp2465Gly) rs143474365 0.00001
NM_001042492.3(NF1):c.7396A>G (p.Ile2466Val) rs748027595 0.00001
NM_001042492.3(NF1):c.7432A>G (p.Ile2478Val) rs759307070 0.00001
NM_001042492.3(NF1):c.7439A>G (p.His2480Arg) rs371151718 0.00001
NM_001042492.3(NF1):c.747A>G (p.Leu249=) rs761964963 0.00001
NM_001042492.3(NF1):c.7496G>T (p.Gly2499Val) rs375176282 0.00001
NM_001042492.3(NF1):c.7525C>T (p.Pro2509Ser) rs886052803 0.00001
NM_001042492.3(NF1):c.7533C>T (p.Val2511=) rs760733171 0.00001
NM_001042492.3(NF1):c.7536C>T (p.Gly2512=) rs786203187 0.00001
NM_001042492.3(NF1):c.7850C>T (p.Ala2617Val) rs375990655 0.00001
NM_001042492.3(NF1):c.7891A>G (p.Thr2631Ala) rs199474793 0.00001
NM_001042492.3(NF1):c.8080T>C (p.Ser2694Pro) rs876658554 0.00001
NM_001042492.3(NF1):c.8238T>G (p.Ile2746Met) rs779789452 0.00001
NM_001042492.3(NF1):c.8296C>G (p.Leu2766Val) rs749647961 0.00001
NM_001042492.3(NF1):c.8324A>G (p.Asn2775Ser) rs772090874 0.00001
NM_001042492.3(NF1):c.8423G>C (p.Cys2808Ser) rs148473245 0.00001
NM_001042492.3(NF1):c.8515G>A (p.Val2839Met) rs368149035 0.00001
NM_001042492.3(NF1):c.853T>G (p.Ser285Ala) rs1555608981 0.00001
NM_001042492.3(NF1):c.862G>A (p.Val288Met) rs755670651 0.00001
NM_001042492.3(NF1):c.873A>C (p.Glu291Asp) rs754915138 0.00001
NM_001042492.3(NF1):c.888+5G>A rs556444929 0.00001
NM_001042492.3(NF1):c.964A>G (p.Ile322Val) rs755007999 0.00001
NM_001079872.2(CUL4B):c.2266+4T>A rs747816205 0.00001
NM_001083961.2(WDR62):c.699+16T>C rs201300686 0.00001
NM_001083962.2(TCF4):c.*5503T>C rs555807846 0.00001
NM_001083962.2(TCF4):c.1070-5A>G rs1416559433 0.00001
NM_001083962.2(TCF4):c.1318G>A (p.Gly440Ser) rs759754956 0.00001
NM_001083962.2(TCF4):c.1349T>C (p.Met450Thr) rs774283982 0.00001
NM_001083962.2(TCF4):c.1586C>T (p.Ser529Leu) rs796053419 0.00001
NM_001083962.2(TCF4):c.209A>G (p.Asn70Ser) rs200359873 0.00001
NM_001083962.2(TCF4):c.246C>T (p.Ser82=) rs1329250167 0.00001
NM_001083962.2(TCF4):c.639C>T (p.Ser213=) rs771829952 0.00001
NM_001101.5(ACTB):c.642G>A (p.Glu214=) rs769411154 0.00001
NM_001101.5(ACTB):c.702C>T (p.Ser234=) rs570862769 0.00001
NM_001101.5(ACTB):c.985-9C>T rs138910287 0.00001
NM_001104631.2(PDE4D):c.1053G>A (p.Gln351=) rs370618257 0.00001
NM_001104631.2(PDE4D):c.993G>A (p.Glu331=) rs768712121 0.00001
NM_001106.4(ACVR2B):c.*1376G>A rs369336725 0.00001
NM_001110219.3(GJB6):c.-35T>A rs534287605 0.00001
NM_001114753.3(ENG):c.108C>T (p.Gly36=) rs748898883 0.00001
NM_001114753.3(ENG):c.1097A>G (p.Asp366Gly) rs932659087 0.00001
NM_001114753.3(ENG):c.278G>A (p.Arg93Gln) rs532649202 0.00001
NM_001114753.3(ENG):c.376A>G (p.Thr126Ala) rs1564456742 0.00001
NM_001114753.3(ENG):c.442G>C (p.Glu148Gln) rs770290260 0.00001
NM_001114753.3(ENG):c.590G>A (p.Arg197Gln) rs770898485 0.00001
NM_001114753.3(ENG):c.675G>A (p.Pro225=) rs757608428 0.00001
NM_001114753.3(ENG):c.680A>G (p.His227Arg) rs377548944 0.00001
NM_001114753.3(ENG):c.943G>A (p.Val315Met) rs763508329 0.00001
NM_001122630.2(CDKN1C):c.291C>T (p.Pro97=) rs534471786 0.00001
NM_001122681.2(SH3BP2):c.*5992A>G rs547319657 0.00001
NM_001122681.2(SH3BP2):c.*882C>T rs574313523 0.00001
NM_001122681.2(SH3BP2):c.166C>T (p.Arg56Cys) rs758096402 0.00001
NM_001122681.2(SH3BP2):c.213C>T (p.Gly71=) rs553536573 0.00001
NM_001122681.2(SH3BP2):c.656A>T (p.Asp219Val) rs150572069 0.00001
NM_001128225.3(SLC39A13):c.1074G>A (p.Ala358=) rs576702857 0.00001
NM_001128225.3(SLC39A13):c.646-13C>T rs773526046 0.00001
NM_001130144.3(LTBP3):c.1332A>G (p.Pro444=) rs530601538 0.00001
NM_001130144.3(LTBP3):c.864+18C>T rs374205429 0.00001
NM_001136193.2(FASTKD2):c.76T>C (p.Trp26Arg) rs536180346 0.00001
NM_001148.6(ANK2):c.1803T>C (p.His601=) rs144016063 0.00001
NM_001148.6(ANK2):c.2364C>T (p.Asn788=) rs769405364 0.00001
NM_001148.6(ANK2):c.2819C>G (p.Ala940Gly) rs537484483 0.00001
NM_001148.6(ANK2):c.4123-13T>C rs759465783 0.00001
NM_001148.6(ANK2):c.547T>C (p.Leu183=) rs146891854 0.00001
NM_001148.6(ANK2):c.7943G>A (p.Gly2648Asp) rs563254150 0.00001
NM_001148.6(ANK2):c.84+7C>T rs762973067 0.00001
NM_001148.6(ANK2):c.8768A>G (p.Gln2923Arg) rs551454026 0.00001
NM_001151.4(SLC25A4):c.*497T>G rs562129249 0.00001
NM_001174147.2(LMX1B):c.432C>T (p.Cys144=) rs375657880 0.00001
NM_001174150.2(ARL13B):c.671G>A (p.Arg224Gln) rs542323478 0.00001
NM_001203.3(BMPR1B):c.1102C>T (p.Pro368Ser) rs577188671 0.00001
NM_001203.3(BMPR1B):c.247-4A>G rs570808649 0.00001
NM_001271938.2(MEGF8):c.3603C>T (p.Asn1201=) rs540512909 0.00001
NM_001271938.2(MEGF8):c.4359C>T (p.Cys1453=) rs369967292 0.00001
NM_001276345.2(TNNT2):c.522C>T (p.Asn174=) rs483352833 0.00001
NM_001278689.2(EOGT):c.1305C>T (p.Phe435=) rs527394057 0.00001
NM_001288615.3(TTC23):c.456-1G>T rs772970039 0.00001
NM_001291415.2(KDM6A):c.201C>T (p.Ala67=) rs377172165 0.00001
NM_001291415.2(KDM6A):c.663T>C (p.Tyr221=) rs755807604 0.00001
NM_001291867.2(NHS):c.612C>T (p.Arg204=) rs777799752 0.00001
NM_001291867.2(NHS):c.743G>A (p.Arg248Gln) rs763162787 0.00001
NM_001308093.3(GATA4):c.223G>T (p.Ala75Ser) rs556967140 0.00001
NM_001308093.3(GATA4):c.234G>A (p.Ala78=) rs756850527 0.00001
NM_001329943.3(KIAA0586):c.1323C>T (p.Asp441=) rs574658488 0.00001
NM_001329943.3(KIAA0586):c.4495+3802G>A rs541632685 0.00001
NM_001330078.2(NRXN1):c.1326A>C (p.Val442=) rs201485014 0.00001
NM_001347721.2(DYRK1A):c.127C>T (p.Arg43Cys) rs367984873 0.00001
NM_001347721.2(DYRK1A):c.128G>A (p.Arg43His) rs750600368 0.00001
NM_001347721.2(DYRK1A):c.154C>G (p.Gln52Glu) rs1555977083 0.00001
NM_001347721.2(DYRK1A):c.1555C>T (p.Arg519Trp) rs1448604709 0.00001
NM_001347721.2(DYRK1A):c.1607C>T (p.Ala536Val) rs188293397 0.00001
NM_001347721.2(DYRK1A):c.1648C>T (p.Arg550Cys) rs757222616 0.00001
NM_001347721.2(DYRK1A):c.1658T>A (p.Phe553Tyr) rs745713557 0.00001
NM_001347721.2(DYRK1A):c.1819C>G (p.His607Asp) rs760957728 0.00001
NM_001347721.2(DYRK1A):c.1915G>A (p.Val639Ile) rs201421931 0.00001
NM_001347721.2(DYRK1A):c.2003A>G (p.Asn668Ser) rs543826218 0.00001
NM_001347721.2(DYRK1A):c.2071G>A (p.Val691Ile) rs540559440 0.00001
NM_001347721.2(DYRK1A):c.2084T>C (p.Val695Ala) rs763795503 0.00001
NM_001347721.2(DYRK1A):c.2128A>G (p.Thr710Ala) rs774450081 0.00001
NM_001347721.2(DYRK1A):c.649C>T (p.Arg217Cys) rs1462221945 0.00001
NM_001347721.2(DYRK1A):c.650G>A (p.Arg217His) rs758727805 0.00001
NM_001351132.2(PEX5):c.381T>C (p.Asp127=) rs201467035 0.00001
NM_001354604.2(MITF):c.*1101G>A rs557878790 0.00001
NM_001360.3(DHCR7):c.226G>A (p.Val76Ile) rs368473756 0.00001
NM_001365999.1(SZT2):c.7185A>G (p.Ser2395=) rs1654894278 0.00001
NM_001365999.1(SZT2):c.780C>T (p.Ile260=) rs375794037 0.00001
NM_001365999.1(SZT2):c.8151+11C>T rs78750047 0.00001
NM_001367561.1(DOCK7):c.281G>A (p.Arg94Gln) rs570514826 0.00001
NM_001368894.2(PAX6):c.243A>G (p.Arg81=) rs771974160 0.00001
NM_001370259.2(MEN1):c.1020C>A (p.Ala340=) rs1060503796 0.00001
NM_001370259.2(MEN1):c.1026G>A (p.Ala342=) rs878855184 0.00001
NM_001370259.2(MEN1):c.1128G>A (p.Leu376=) rs754129242 0.00001
NM_001370259.2(MEN1):c.114C>G (p.Ser38=) rs1252317486 0.00001
NM_001370259.2(MEN1):c.1157G>A (p.Gly386Asp) rs761360623 0.00001
NM_001370259.2(MEN1):c.1186-6G>A rs576193460 0.00001
NM_001370259.2(MEN1):c.1206C>T (p.Ser402=) rs770037856 0.00001
NM_001370259.2(MEN1):c.121C>T (p.Leu41=) rs1441672096 0.00001
NM_001370259.2(MEN1):c.1230C>T (p.Phe410=) rs878855188 0.00001
NM_001370259.2(MEN1):c.1275G>A (p.Glu425=) rs1236745071 0.00001
NM_001370259.2(MEN1):c.1287G>A (p.Thr429=) rs376598079 0.00001
NM_001370259.2(MEN1):c.135G>A (p.Glu45=) rs778670301 0.00001
NM_001370259.2(MEN1):c.1392G>A (p.Ala464=) rs754445482 0.00001
NM_001370259.2(MEN1):c.1395C>T (p.Ala465=) rs748820252 0.00001
NM_001370259.2(MEN1):c.1399G>A (p.Ala467Thr) rs779589005 0.00001
NM_001370259.2(MEN1):c.1404G>A (p.Glu468=) rs755734265 0.00001
NM_001370259.2(MEN1):c.1458G>A (p.Glu486=) rs1413990417 0.00001
NM_001370259.2(MEN1):c.1482G>A (p.Pro494=) rs773363654 0.00001
NM_001370259.2(MEN1):c.1497A>G (p.Ala499=) rs1057121245 0.00001
NM_001370259.2(MEN1):c.1516A>C (p.Thr506Pro) rs1060499994 0.00001
NM_001370259.2(MEN1):c.1564G>C (p.Val522Leu) rs1060499983 0.00001
NM_001370259.2(MEN1):c.1578C>A (p.Ala526=) rs767655504 0.00001
NM_001370259.2(MEN1):c.1608G>A (p.Gln536=) rs1055457298 0.00001
NM_001370259.2(MEN1):c.1635G>A (p.Pro545=) rs1349729840 0.00001
NM_001370259.2(MEN1):c.1656T>C (p.Thr552=) rs143423552 0.00001
NM_001370259.2(MEN1):c.1701C>T (p.Ala567=) rs757417271 0.00001
NM_001370259.2(MEN1):c.1740G>A (p.Thr580=) rs1114167530 0.00001
NM_001370259.2(MEN1):c.1758G>A (p.Gln586=) rs759563305 0.00001
NM_001370259.2(MEN1):c.1779C>T (p.Ser593=) rs1157546350 0.00001
NM_001370259.2(MEN1):c.177C>G (p.Pro59=) rs749001511 0.00001
NM_001370259.2(MEN1):c.219C>T (p.Gly73=) rs758434243 0.00001
NM_001370259.2(MEN1):c.249G>T (p.Leu83=) rs386134252 0.00001
NM_001370259.2(MEN1):c.258C>T (p.Ile86=) rs759731868 0.00001
NM_001370259.2(MEN1):c.300C>G (p.Ala100=) rs773136972 0.00001
NM_001370259.2(MEN1):c.303C>T (p.Val101=) rs1463347315 0.00001
NM_001370259.2(MEN1):c.336C>G (p.Val112=) rs1200092213 0.00001
NM_001370259.2(MEN1):c.345T>C (p.Arg115=) rs748948131 0.00001
NM_001370259.2(MEN1):c.387C>G (p.Leu129=) rs1257890690 0.00001
NM_001370259.2(MEN1):c.390C>T (p.Ser130=) rs771272168 0.00001
NM_001370259.2(MEN1):c.396C>T (p.Ser132=) rs896947172 0.00001
NM_001370259.2(MEN1):c.465C>T (p.Ser155=) rs936786553 0.00001
NM_001370259.2(MEN1):c.48C>T (p.Ile16=) rs1060503797 0.00001
NM_001370259.2(MEN1):c.513G>C (p.Arg171=) rs560870111 0.00001
NM_001370259.2(MEN1):c.570G>A (p.Gly190=) rs547249181 0.00001
NM_001370259.2(MEN1):c.609C>T (p.Asn203=) rs749844029 0.00001
NM_001370259.2(MEN1):c.621G>A (p.Arg207=) rs779966911 0.00001
NM_001370259.2(MEN1):c.681C>T (p.Tyr227=) rs778921501 0.00001
NM_001370259.2(MEN1):c.711G>A (p.Ala237=) rs144677807 0.00001
NM_001370259.2(MEN1):c.726C>T (p.Ala242=) rs1198651608 0.00001
NM_001370259.2(MEN1):c.729C>T (p.Ile243=) rs1353237754 0.00001
NM_001370259.2(MEN1):c.801C>G (p.Leu267=) rs760850856 0.00001
NM_001370259.2(MEN1):c.828C>T (p.Tyr276=) rs1060503789 0.00001
NM_001370259.2(MEN1):c.843G>C (p.Gly281=) rs562620826 0.00001
NM_001370259.2(MEN1):c.849G>A (p.Leu283=) rs1592646641 0.00001
NM_001370259.2(MEN1):c.856C>T (p.Leu286=) rs542321016 0.00001
NM_001370259.2(MEN1):c.861G>A (p.Glu287=) rs1336658836 0.00001
NM_001370259.2(MEN1):c.913-8C>T rs373893527 0.00001
NM_001370259.2(MEN1):c.984C>T (p.His328=) rs757323408 0.00001
NM_001370259.2(MEN1):c.999T>C (p.Asn333=) rs763133775 0.00001
NM_001371623.1(TCOF1):c.1867G>A (p.Ala623Thr) rs201126288 0.00001
NM_001371623.1(TCOF1):c.3784+8A>G rs151344578 0.00001
NM_001371986.1(UNC80):c.9453A>G (p.Gln3151=) rs755213717 0.00001
NM_001374353.1(GLI2):c.2657C>G (p.Thr886Ser) rs572826436 0.00001
NM_001374353.1(GLI2):c.3409G>A (p.Val1137Ile) rs200999705 0.00001
NM_001374353.1(GLI2):c.4156A>G (p.Met1386Val) rs577126364 0.00001
NM_001374353.1(GLI2):c.595G>A (p.Gly199Ser) rs542892514 0.00001
NM_001378615.1(CC2D2A):c.541-5G>A rs369022150 0.00001
NM_001378964.1(CDON):c.*1016C>T rs545234191 0.00001
NM_001378964.1(CDON):c.*601T>A rs549303080 0.00001
NM_001378964.1(CDON):c.3156G>A (p.Lys1052=) rs758026817 0.00001
NM_001379200.1(TBX1):c.1314C>T (p.Ala438=) rs574947516 0.00001
NM_001382391.1(CSPP1):c.1521C>T (p.Pro507=) rs199923715 0.00001
NM_001386795.1(DTNA):c.2295+15G>A rs756945985 0.00001
NM_001386795.1(DTNA):c.93A>G (p.Arg31=) rs778817036 0.00001
NM_001399.5(EDA):c.502+10C>T rs771904661 0.00001
NM_001399.5(EDA):c.879G>A (p.Leu293=) rs746437230 0.00001
NM_001429.4(EP300):c.1150T>G (p.Ser384Ala) rs377368037 0.00001
NM_001429.4(EP300):c.2005A>G (p.Met669Val) rs749541256 0.00001
NM_001429.4(EP300):c.206G>A (p.Gly69Asp) rs370355846 0.00001
NM_001429.4(EP300):c.271C>T (p.Pro91Ser) rs138538553 0.00001
NM_001429.4(EP300):c.2997+12G>A rs372770495 0.00001
NM_001429.4(EP300):c.469C>A (p.Pro157Thr) rs748538778 0.00001
NM_001429.4(EP300):c.471A>G (p.Pro157=) rs770598337 0.00001
NM_001429.4(EP300):c.5709C>T (p.Gly1903=) rs200728751 0.00001
NM_001429.4(EP300):c.6352A>G (p.Met2118Val) rs755381839 0.00001
NM_001429.4(EP300):c.6967C>T (p.Pro2323Ser) rs201369756 0.00001
NM_001429.4(EP300):c.7139C>T (p.Pro2380Leu) rs587778259 0.00001
NM_001453.3(FOXC1):c.333C>T (p.Arg111=) rs547414473 0.00001
NM_001453.3(FOXC1):c.600G>C (p.Gln200His) rs549370363 0.00001
NM_001999.4(FBN2):c.-147C>T rs571337177 0.00001
NM_001999.4(FBN2):c.1152G>A (p.Thr384=) rs267600336 0.00001
NM_001999.4(FBN2):c.1157T>C (p.Met386Thr) rs750949734 0.00001
NM_001999.4(FBN2):c.1336G>A (p.Gly446Ser) rs1173562709 0.00001
NM_001999.4(FBN2):c.1418G>A (p.Gly473Glu) rs376096770 0.00001
NM_001999.4(FBN2):c.14G>A (p.Arg5Gln) rs1194684025 0.00001
NM_001999.4(FBN2):c.1812C>T (p.Ala604=) rs745811885 0.00001
NM_001999.4(FBN2):c.2042G>A (p.Arg681His) rs548605398 0.00001
NM_001999.4(FBN2):c.2271T>C (p.Ser757=) rs1338036259 0.00001
NM_001999.4(FBN2):c.2375G>A (p.Arg792His) rs374031658 0.00001
NM_001999.4(FBN2):c.2429-11G>A rs201849584 0.00001
NM_001999.4(FBN2):c.2855C>T (p.Thr952Met) rs766590294 0.00001
NM_001999.4(FBN2):c.3046G>A (p.Val1016Ile) rs773235785 0.00001
NM_001999.4(FBN2):c.3162C>T (p.Arg1054=) rs765015874 0.00001
NM_001999.4(FBN2):c.3209T>A (p.Phe1070Tyr) rs139118782 0.00001
NM_001999.4(FBN2):c.3430G>A (p.Glu1144Lys) rs200060005 0.00001
NM_001999.4(FBN2):c.3483A>G (p.Glu1161=) rs761867143 0.00001
NM_001999.4(FBN2):c.3568G>A (p.Glu1190Lys) rs755737169 0.00001
NM_001999.4(FBN2):c.4096A>G (p.Thr1366Ala) rs768722316 0.00001
NM_001999.4(FBN2):c.4124C>T (p.Ala1375Val) rs768753485 0.00001
NM_001999.4(FBN2):c.4402G>A (p.Val1468Ile) rs199668238 0.00001
NM_001999.4(FBN2):c.4407G>A (p.Pro1469=) rs546172367 0.00001
NM_001999.4(FBN2):c.4422C>T (p.Cys1474=) rs371629482 0.00001
NM_001999.4(FBN2):c.4453G>A (p.Asp1485Asn) rs187786356 0.00001
NM_001999.4(FBN2):c.477T>C (p.Cys159=) rs138601900 0.00001
NM_001999.4(FBN2):c.5225G>A (p.Arg1742Gln) rs774411234 0.00001
NM_001999.4(FBN2):c.5487C>T (p.Gly1829=) rs375136629 0.00001
NM_001999.4(FBN2):c.61C>T (p.Leu21Phe) rs201321678 0.00001
NM_001999.4(FBN2):c.6558A>G (p.Gln2186=) rs757216544 0.00001
NM_001999.4(FBN2):c.6598A>G (p.Met2200Val) rs766808076 0.00001
NM_001999.4(FBN2):c.6885G>A (p.Leu2295=) rs754211806 0.00001
NM_001999.4(FBN2):c.6990G>A (p.Arg2330=) rs28763928 0.00001
NM_001999.4(FBN2):c.7202G>A (p.Ser2401Asn) rs758124873 0.00001
NM_001999.4(FBN2):c.7262A>G (p.Gln2421Arg) rs764759689 0.00001
NM_001999.4(FBN2):c.7266C>T (p.Cys2422=) rs776227906 0.00001
NM_001999.4(FBN2):c.734G>A (p.Arg245Gln) rs747507457 0.00001
NM_001999.4(FBN2):c.7385A>G (p.Asn2462Ser) rs576501460 0.00001
NM_001999.4(FBN2):c.7396A>G (p.Ile2466Val) rs373370945 0.00001
NM_001999.4(FBN2):c.73G>A (p.Gly25Ser) rs763408652 0.00001
NM_001999.4(FBN2):c.778C>G (p.Pro260Ala) rs774323549 0.00001
NM_001999.4(FBN2):c.7985A>G (p.Asn2662Ser) rs765867245 0.00001
NM_001999.4(FBN2):c.8099C>T (p.Ser2700Leu) rs776788539 0.00001
NM_001999.4(FBN2):c.8254G>A (p.Asp2752Asn) rs529742815 0.00001
NM_001999.4(FBN2):c.82G>T (p.Gly28Cys) rs772841538 0.00001
NM_001999.4(FBN2):c.8325C>T (p.Ser2775=) rs368712261 0.00001
NM_001999.4(FBN2):c.842A>G (p.Gln281Arg) rs773505261 0.00001
NM_001999.4(FBN2):c.8437G>A (p.Gly2813Ser) rs199808954 0.00001
NM_001999.4(FBN2):c.8668A>G (p.Asn2890Asp) rs888064842 0.00001
NM_001999.4(FBN2):c.8675A>G (p.Asp2892Gly) rs768293070 0.00001
NM_001999.4(FBN2):c.86A>C (p.Gln29Pro) rs771712321 0.00001
NM_002010.3(FGF9):c.*266G>A rs557670544 0.00001
NM_002181.4(IHH):c.717C>T (p.Thr239=) rs533532683 0.00001
NM_002181.4(IHH):c.816A>G (p.Thr272=) rs200792119 0.00001
NM_002272.4(KRT4):c.558C>G (p.Pro186=) rs766644080 0.00001
NM_002334.4(LRP4):c.1365A>G (p.Pro455=) rs143481229 0.00001
NM_002397.5(MEF2C):c.1021G>A (p.Ala341Thr) rs797045703 0.00001
NM_002397.5(MEF2C):c.319G>A (p.Val107Ile) rs750647048 0.00001
NM_002397.5(MEF2C):c.499C>T (p.Pro167Ser) rs1322552264 0.00001
NM_002397.5(MEF2C):c.730A>G (p.Met244Val) rs752349182 0.00001
NM_002397.5(MEF2C):c.963C>T (p.Thr321=) rs1363064582 0.00001
NM_002449.5(MSX2):c.315G>C (p.Lys105Asn) rs760574628 0.00001
NM_002449.5(MSX2):c.756G>A (p.Val252=) rs542254664 0.00001
NM_002465.4(MYBPC1):c.1423A>G (p.Ile475Val) rs200949332 0.00001
NM_002465.4(MYBPC1):c.2508C>T (p.Leu836=) rs772332498 0.00001
NM_002470.4(MYH3):c.3850G>A (p.Glu1284Lys) rs761684970 0.00001
NM_002471.4(MYH6):c.4960-9G>A rs557113705 0.00001
NM_002485.5(NBN):c.1056A>G (p.Leu352=) rs369092711 0.00001
NM_002485.5(NBN):c.2196A>G (p.Gln732=) rs587780780 0.00001
NM_002617.4(PEX10):c.864C>T (p.Cys288=) rs762621687 0.00001
NM_002641.4(PIGA):c.1046A>G (p.Glu349Gly) rs1174537633 0.00001
NM_002641.4(PIGA):c.250A>G (p.Thr84Ala) rs768321389 0.00001
NM_002641.4(PIGA):c.879G>A (p.Lys293=) rs777674120 0.00001
NM_002693.3(POLG):c.*30G>A rs3087376 0.00001
NM_002693.3(POLG):c.1898A>C (p.Lys633Thr) rs568913937 0.00001
NM_002755.4(MAP2K1):c.804C>G (p.Ala268=) rs371652992 0.00001
NM_002834.5(PTPN11):c.*329T>C rs576039073 0.00001
NM_002834.5(PTPN11):c.1599+26G>A rs727505390 0.00001
NM_002834.5(PTPN11):c.1650G>A (p.Ala550=) rs374896287 0.00001
NM_002834.5(PTPN11):c.951G>A (p.Lys317=) rs576405446 0.00001
NM_002880.4(RAF1):c.1141G>A (p.Asp381Asn) rs559632360 0.00001
NM_002880.4(RAF1):c.1914G>A (p.Thr638=) rs144876026 0.00001
NM_002968.3(SALL1):c.537C>T (p.Leu179=) rs200539812 0.00001
NM_003036.4(SKI):c.471G>A (p.Gln157=) rs569206617 0.00001
NM_003036.4(SKI):c.504C>T (p.Pro168=) rs774588048 0.00001
NM_003052.5(SLC34A1):c.*431C>T rs139531166 0.00001
NM_003070.5(SMARCA2):c.1675A>C (p.Arg559=) rs753721830 0.00001
NM_003070.5(SMARCA2):c.1877+9T>A rs760917036 0.00001
NM_003070.5(SMARCA2):c.2907C>T (p.Asp969=) rs761701446 0.00001
NM_003070.5(SMARCA2):c.4679G>A (p.Arg1560Gln) rs537631853 0.00001
NM_003070.5(SMARCA2):c.597C>T (p.Pro199=) rs747247552 0.00001
NM_003070.5(SMARCA2):c.791-7C>T rs558585794 0.00001
NM_003072.5(SMARCA4):c.1050C>A (p.Ser350Arg) rs777628688 0.00001
NM_003072.5(SMARCA4):c.2347C>T (p.Leu783=) rs762449855 0.00001
NM_003072.5(SMARCA4):c.2506-14T>C rs751003991 0.00001
NM_003072.5(SMARCA4):c.2637T>C (p.Ile879=) rs369795542 0.00001
NM_003072.5(SMARCA4):c.2853G>T (p.Gly951=) rs767915497 0.00001
NM_003072.5(SMARCA4):c.355+9C>T rs767575401 0.00001
NM_003072.5(SMARCA4):c.4152G>A (p.Thr1384=) rs372620534 0.00001
NM_003072.5(SMARCA4):c.4251C>T (p.Ser1417=) rs377057304 0.00001
NM_003072.5(SMARCA4):c.54G>A (p.Pro18=) rs529632222 0.00001
NM_003072.5(SMARCA4):c.665C>T (p.Pro222Leu) rs533671711 0.00001
NM_003106.4(SOX2):c.560A>G (p.Asn187Ser) rs1394727952 0.00001
NM_003119.4(SPG7):c.1664-11C>A rs574656941 0.00001
NM_003289.4(TPM2):c.563+18T>A rs370352040 0.00001
NM_003334.4(UBA1):c.117+16G>A rs375750779 0.00001
NM_003334.4(UBA1):c.1339-9A>G rs782104383 0.00001
NM_003334.4(UBA1):c.1339C>T (p.Arg447Cys) rs570568650 0.00001
NM_003334.4(UBA1):c.2053T>C (p.Leu685=) rs781839671 0.00001
NM_003334.4(UBA1):c.206G>A (p.Arg69Gln) rs782425809 0.00001
NM_003334.4(UBA1):c.2118C>T (p.Cys706=) rs782597501 0.00001
NM_003334.4(UBA1):c.2453A>G (p.Asn818Ser) rs781800261 0.00001
NM_003334.4(UBA1):c.2742G>C (p.Gln914His) rs1487402125 0.00001
NM_003334.4(UBA1):c.2941-14C>T rs782755186 0.00001
NM_003482.4(KMT2D):c.10027C>G (p.Leu3343Val) rs1299043216 0.00001
NM_003482.4(KMT2D):c.10148G>A (p.Gly3383Asp) rs776462586 0.00001
NM_003482.4(KMT2D):c.10193T>A (p.Met3398Lys) rs774540578 0.00001
NM_003482.4(KMT2D):c.10410G>T (p.Leu3470=) rs747438612 0.00001
NM_003482.4(KMT2D):c.10416C>G (p.Asn3472Lys) rs773424975 0.00001
NM_003482.4(KMT2D):c.10471C>G (p.Arg3491Gly) rs902898516 0.00001
NM_003482.4(KMT2D):c.106C>T (p.Pro36Ser) rs954226380 0.00001
NM_003482.4(KMT2D):c.1074C>G (p.Ile358Met) rs548225150 0.00001
NM_003482.4(KMT2D):c.10774A>G (p.Met3592Val) rs372758101 0.00001
NM_003482.4(KMT2D):c.10909C>A (p.Pro3637Thr) rs775182190 0.00001
NM_003482.4(KMT2D):c.10957G>A (p.Gly3653Arg) rs780464972 0.00001
NM_003482.4(KMT2D):c.109C>T (p.His37Tyr) rs1243381790 0.00001
NM_003482.4(KMT2D):c.11159A>G (p.Gln3720Arg) rs967275526 0.00001
NM_003482.4(KMT2D):c.1115T>A (p.Phe372Tyr) rs367758673 0.00001
NM_003482.4(KMT2D):c.11299C>G (p.Gln3767Glu) rs776808398 0.00001
NM_003482.4(KMT2D):c.11329A>C (p.Met3777Leu) rs1291193803 0.00001
NM_003482.4(KMT2D):c.11379A>G (p.Gln3793=) rs767177188 0.00001
NM_003482.4(KMT2D):c.11450C>A (p.Ala3817Asp) rs1199585231 0.00001
NM_003482.4(KMT2D):c.11570A>T (p.Gln3857Leu) rs1467814815 0.00001
NM_003482.4(KMT2D):c.1168G>A (p.Val390Ile) rs748251797 0.00001
NM_003482.4(KMT2D):c.11690T>C (p.Leu3897Ser) rs1342235871 0.00001
NM_003482.4(KMT2D):c.11951T>C (p.Leu3984Ser) rs372100436 0.00001
NM_003482.4(KMT2D):c.12509C>T (p.Pro4170Leu) rs752971744 0.00001
NM_003482.4(KMT2D):c.12542C>G (p.Ser4181Cys) rs776127830 0.00001
NM_003482.4(KMT2D):c.12566G>C (p.Gly4189Ala) rs532360713 0.00001
NM_003482.4(KMT2D):c.12579G>A (p.Thr4193=) rs398123713 0.00001
NM_003482.4(KMT2D):c.12610G>A (p.Val4204Ile) rs202126693 0.00001
NM_003482.4(KMT2D):c.12685C>T (p.Arg4229Trp) rs754805620 0.00001
NM_003482.4(KMT2D):c.12686G>A (p.Arg4229Gln) rs753607446 0.00001
NM_003482.4(KMT2D):c.1276C>T (p.Leu426Phe) rs750774484 0.00001
NM_003482.4(KMT2D):c.12911C>T (p.Pro4304Leu) rs760819349 0.00001
NM_003482.4(KMT2D):c.12919C>T (p.Pro4307Ser) rs779897575 0.00001
NM_003482.4(KMT2D):c.12923C>T (p.Thr4308Ile) rs769751385 0.00001
NM_003482.4(KMT2D):c.12977C>G (p.Pro4326Arg) rs1038898344 0.00001
NM_003482.4(KMT2D):c.12979A>T (p.Ser4327Cys) rs571038616 0.00001
NM_003482.4(KMT2D):c.12980G>A (p.Ser4327Asn) rs587778479 0.00001
NM_003482.4(KMT2D):c.13118G>A (p.Gly4373Asp) rs770966197 0.00001
NM_003482.4(KMT2D):c.1311G>T (p.Glu437Asp) rs1414201568 0.00001
NM_003482.4(KMT2D):c.13274C>T (p.Ala4425Val) rs752531267 0.00001
NM_003482.4(KMT2D):c.13312G>A (p.Glu4438Lys) rs1356221709 0.00001
NM_003482.4(KMT2D):c.13386C>T (p.Leu4462=) rs759673318 0.00001
NM_003482.4(KMT2D):c.13481A>C (p.Lys4494Thr) rs201048945 0.00001
NM_003482.4(KMT2D):c.13486G>T (p.Ala4496Ser) rs775160406 0.00001
NM_003482.4(KMT2D):c.13582G>A (p.Ala4528Thr) rs587778480 0.00001
NM_003482.4(KMT2D):c.13630G>A (p.Gly4544Arg) rs778793714 0.00001
NM_003482.4(KMT2D):c.13703C>T (p.Ala4568Val) rs769668980 0.00001
NM_003482.4(KMT2D):c.13711G>A (p.Ala4571Thr) rs756908474 0.00001
NM_003482.4(KMT2D):c.13763A>G (p.Gln4588Arg) rs760847881 0.00001
NM_003482.4(KMT2D):c.13898C>T (p.Ser4633Leu) rs373146997 0.00001
NM_003482.4(KMT2D):c.1396C>T (p.Arg466Cys) rs201512665 0.00001
NM_003482.4(KMT2D):c.13975C>T (p.Arg4659Trp) rs558561472 0.00001
NM_003482.4(KMT2D):c.1408C>T (p.Pro470Ser) rs761594079 0.00001
NM_003482.4(KMT2D):c.14137A>G (p.Ser4713Gly) rs1420061777 0.00001
NM_003482.4(KMT2D):c.14186G>A (p.Arg4729Gln) rs551404784 0.00001
NM_003482.4(KMT2D):c.1447T>C (p.Leu483=) rs538588651 0.00001
NM_003482.4(KMT2D):c.14650C>T (p.Pro4884Ser) rs1019876289 0.00001
NM_003482.4(KMT2D):c.14747C>T (p.Pro4916Leu) rs529656123 0.00001
NM_003482.4(KMT2D):c.14771C>T (p.Ser4924Phe) rs771209224 0.00001
NM_003482.4(KMT2D):c.14840C>A (p.Pro4947His) rs587783694 0.00001
NM_003482.4(KMT2D):c.14891G>A (p.Arg4964His) rs777093715 0.00001
NM_003482.4(KMT2D):c.14923C>T (p.Arg4975Cys) rs781012274 0.00001
NM_003482.4(KMT2D):c.14966G>A (p.Arg4989Gln) rs766918626 0.00001
NM_003482.4(KMT2D):c.14972G>A (p.Arg4991Gln) rs761108868 0.00001
NM_003482.4(KMT2D):c.15077C>T (p.Pro5026Leu) rs957154857 0.00001
NM_003482.4(KMT2D):c.1531C>T (p.Pro511Ser) rs750950395 0.00001
NM_003482.4(KMT2D):c.15332A>G (p.Asn5111Ser) rs943690439 0.00001
NM_003482.4(KMT2D):c.15631G>A (p.Glu5211Lys) rs759026879 0.00001
NM_003482.4(KMT2D):c.15634G>A (p.Ala5212Thr) rs1172469001 0.00001
NM_003482.4(KMT2D):c.15767C>G (p.Thr5256Ser) rs971170451 0.00001
NM_003482.4(KMT2D):c.15968G>A (p.Arg5323His) rs745599611 0.00001
NM_003482.4(KMT2D):c.1601C>T (p.Thr534Met) rs946192879 0.00001
NM_003482.4(KMT2D):c.1628C>T (p.Ser543Leu) rs776242478 0.00001
NM_003482.4(KMT2D):c.163C>T (p.Pro55Ser) rs1314970592 0.00001
NM_003482.4(KMT2D):c.1640C>T (p.Pro547Leu) rs761207069 0.00001
NM_003482.4(KMT2D):c.1687A>G (p.Thr563Ala) rs780055412 0.00001
NM_003482.4(KMT2D):c.1759G>C (p.Glu587Gln) rs199980307 0.00001
NM_003482.4(KMT2D):c.1859C>G (p.Pro620Arg) rs369076375 0.00001
NM_003482.4(KMT2D):c.185C>T (p.Pro62Leu) rs371342351 0.00001
NM_003482.4(KMT2D):c.1909C>A (p.Pro637Thr) rs529702193 0.00001
NM_003482.4(KMT2D):c.1954C>T (p.Arg652Cys) rs1301516107 0.00001
NM_003482.4(KMT2D):c.1955G>A (p.Arg652His) rs776778856 0.00001
NM_003482.4(KMT2D):c.1970C>T (p.Pro657Leu) rs779943229 0.00001
NM_003482.4(KMT2D):c.2112C>T (p.Asp704=) rs1231395599 0.00001
NM_003482.4(KMT2D):c.2132C>T (p.Pro711Leu) rs893615522 0.00001
NM_003482.4(KMT2D):c.2209C>T (p.Arg737Trp) rs539274614 0.00001
NM_003482.4(KMT2D):c.2420C>A (p.Ser807Tyr) rs757089451 0.00001
NM_003482.4(KMT2D):c.2530C>A (p.Pro844Thr) rs1196290590 0.00001
NM_003482.4(KMT2D):c.2579T>C (p.Leu860Pro) rs775496424 0.00001
NM_003482.4(KMT2D):c.2582C>G (p.Ser861Cys) rs398123739 0.00001
NM_003482.4(KMT2D):c.2596A>G (p.Lys866Glu) rs1487349760 0.00001
NM_003482.4(KMT2D):c.2737G>A (p.Glu913Lys) rs199724002 0.00001
NM_003482.4(KMT2D):c.2756C>T (p.Pro919Leu) rs774423907 0.00001
NM_003482.4(KMT2D):c.2771C>T (p.Ser924Phe) rs768627183 0.00001
NM_003482.4(KMT2D):c.2872G>A (p.Glu958Lys) rs766682523 0.00001
NM_003482.4(KMT2D):c.299G>C (p.Gly100Ala) rs371058953 0.00001
NM_003482.4(KMT2D):c.3032C>T (p.Pro1011Leu) rs760253122 0.00001
NM_003482.4(KMT2D):c.3089A>G (p.His1030Arg) rs374230943 0.00001
NM_003482.4(KMT2D):c.3122A>G (p.Gln1041Arg) rs112615033 0.00001
NM_003482.4(KMT2D):c.3190G>A (p.Val1064Ile) rs755939422 0.00001
NM_003482.4(KMT2D):c.3193T>A (p.Ser1065Thr) rs750176209 0.00001
NM_003482.4(KMT2D):c.3280C>T (p.Leu1094Phe) rs1053550290 0.00001
NM_003482.4(KMT2D):c.3405A>G (p.Pro1135=) rs886042311 0.00001
NM_003482.4(KMT2D):c.3455C>T (p.Pro1152Leu) rs765863571 0.00001
NM_003482.4(KMT2D):c.3524C>T (p.Thr1175Ile) rs756582036 0.00001
NM_003482.4(KMT2D):c.3573G>A (p.Pro1191=) rs766243479 0.00001
NM_003482.4(KMT2D):c.3607G>A (p.Asp1203Asn) rs1314762950 0.00001
NM_003482.4(KMT2D):c.3647C>A (p.Ala1216Asp) rs930578096 0.00001
NM_003482.4(KMT2D):c.3752C>T (p.Ala1251Val) rs1361062364 0.00001
NM_003482.4(KMT2D):c.3790C>T (p.Leu1264=) rs565879146 0.00001
NM_003482.4(KMT2D):c.3807C>G (p.Asp1269Glu) rs1381732975 0.00001
NM_003482.4(KMT2D):c.3874C>T (p.Arg1292Cys) rs762841102 0.00001
NM_003482.4(KMT2D):c.3890G>A (p.Arg1297His) rs781156556 0.00001
NM_003482.4(KMT2D):c.3895C>T (p.Arg1299Cys) rs773797737 0.00001
NM_003482.4(KMT2D):c.448T>C (p.Trp150Arg) rs764606893 0.00001
NM_003482.4(KMT2D):c.4500C>T (p.Pro1500=) rs781649539 0.00001
NM_003482.4(KMT2D):c.4642G>A (p.Asp1548Asn) rs774736686 0.00001
NM_003482.4(KMT2D):c.4900G>C (p.Ala1634Pro) rs767489857 0.00001
NM_003482.4(KMT2D):c.4942G>A (p.Asp1648Asn) rs779260688 0.00001
NM_003482.4(KMT2D):c.5008G>A (p.Val1670Ile) rs759615739 0.00001
NM_003482.4(KMT2D):c.5065C>T (p.Arg1689Cys) rs761386159 0.00001
NM_003482.4(KMT2D):c.5192T>C (p.Ile1731Thr) rs970144947 0.00001
NM_003482.4(KMT2D):c.5207C>G (p.Pro1736Arg) rs587778458 0.00001
NM_003482.4(KMT2D):c.5299A>G (p.Met1767Val) rs778879514 0.00001
NM_003482.4(KMT2D):c.5375T>C (p.Val1792Ala) rs757707458 0.00001
NM_003482.4(KMT2D):c.5407A>G (p.Thr1803Ala) rs1217603879 0.00001
NM_003482.4(KMT2D):c.5423G>A (p.Gly1808Glu) rs765343914 0.00001
NM_003482.4(KMT2D):c.5524G>A (p.Asp1842Asn) rs1399516081 0.00001
NM_003482.4(KMT2D):c.5820A>G (p.Pro1940=) rs372910439 0.00001
NM_003482.4(KMT2D):c.5966C>T (p.Thr1989Met) rs754420100 0.00001
NM_003482.4(KMT2D):c.604G>A (p.Gly202Ser) rs1364190219 0.00001
NM_003482.4(KMT2D):c.6235-32C>A rs371302554 0.00001
NM_003482.4(KMT2D):c.6314G>A (p.Arg2105His) rs772506992 0.00001
NM_003482.4(KMT2D):c.6434C>T (p.Pro2145Leu) rs574231443 0.00001
NM_003482.4(KMT2D):c.6497A>G (p.Gln2166Arg) rs745554910 0.00001
NM_003482.4(KMT2D):c.6508C>G (p.Gln2170Glu) rs758743247 0.00001
NM_003482.4(KMT2D):c.6510A>C (p.Gln2170His) rs753121118 0.00001
NM_003482.4(KMT2D):c.6609G>A (p.Thr2203=) rs777250293 0.00001
NM_003482.4(KMT2D):c.6640G>A (p.Ala2214Thr) rs587783724 0.00001
NM_003482.4(KMT2D):c.6650G>A (p.Arg2217His) rs1201197190 0.00001
NM_003482.4(KMT2D):c.6704G>A (p.Arg2235Lys) rs551403860 0.00001
NM_003482.4(KMT2D):c.6769G>A (p.Val2257Met) rs775131102 0.00001
NM_003482.4(KMT2D):c.6820T>C (p.Ser2274Pro) rs750348927 0.00001
NM_003482.4(KMT2D):c.6844C>T (p.Arg2282Trp) rs587783726 0.00001
NM_003482.4(KMT2D):c.6929C>A (p.Pro2310His) rs752346893 0.00001
NM_003482.4(KMT2D):c.6935C>T (p.Ser2312Leu) rs949690934 0.00001
NM_003482.4(KMT2D):c.7112C>T (p.Pro2371Leu) rs753409439 0.00001
NM_003482.4(KMT2D):c.7205C>T (p.Ser2402Leu) rs750003992 0.00001
NM_003482.4(KMT2D):c.7220C>T (p.Pro2407Leu) rs557710295 0.00001
NM_003482.4(KMT2D):c.7327C>T (p.Arg2443Cys) rs371053017 0.00001
NM_003482.4(KMT2D):c.7328G>T (p.Arg2443Leu) rs780776865 0.00001
NM_003482.4(KMT2D):c.7355G>A (p.Arg2452His) rs1169789725 0.00001
NM_003482.4(KMT2D):c.7378C>T (p.Arg2460Cys) rs570260017 0.00001
NM_003482.4(KMT2D):c.757G>A (p.Gly253Arg) rs775185224 0.00001
NM_003482.4(KMT2D):c.7591C>T (p.Pro2531Ser) rs371432516 0.00001
NM_003482.4(KMT2D):c.7595C>T (p.Ser2532Phe) rs749781307 0.00001
NM_003482.4(KMT2D):c.7604G>A (p.Arg2535His) rs756461524 0.00001
NM_003482.4(KMT2D):c.7642A>G (p.Lys2548Glu) rs575775792 0.00001
NM_003482.4(KMT2D):c.7654C>A (p.Pro2552Thr) rs1228953847 0.00001
NM_003482.4(KMT2D):c.7676C>G (p.Pro2559Arg) rs781537147 0.00001
NM_003482.4(KMT2D):c.7696T>C (p.Phe2566Leu) rs200601740 0.00001
NM_003482.4(KMT2D):c.7724C>T (p.Pro2575Leu) rs533854462 0.00001
NM_003482.4(KMT2D):c.7765C>T (p.Pro2589Ser) rs770403393 0.00001
NM_003482.4(KMT2D):c.7787C>T (p.Pro2596Leu) rs756597120 0.00001
NM_003482.4(KMT2D):c.7841C>T (p.Ser2614Leu) rs376202668 0.00001
NM_003482.4(KMT2D):c.7932G>T (p.Lys2644Asn) rs369055827 0.00001
NM_003482.4(KMT2D):c.7998C>A (p.Asp2666Glu) rs1258008817 0.00001
NM_003482.4(KMT2D):c.8096C>G (p.Thr2699Ser) rs983427248 0.00001
NM_003482.4(KMT2D):c.825G>A (p.Val275=) rs200767468 0.00001
NM_003482.4(KMT2D):c.8305G>A (p.Asp2769Asn) rs772742966 0.00001
NM_003482.4(KMT2D):c.8470A>G (p.Thr2824Ala) rs1190017036 0.00001
NM_003482.4(KMT2D):c.8764C>T (p.Arg2922Trp) rs751964761 0.00001
NM_003482.4(KMT2D):c.8799A>C (p.Lys2933Asn) rs766599883 0.00001
NM_003482.4(KMT2D):c.8875A>G (p.Thr2959Ala) rs752240940 0.00001
NM_003482.4(KMT2D):c.8930A>G (p.Asn2977Ser) rs1199029417 0.00001
NM_003482.4(KMT2D):c.9002A>G (p.Lys3001Arg) rs371231725 0.00001
NM_003482.4(KMT2D):c.9128A>G (p.Asn3043Ser) rs746344900 0.00001
NM_003482.4(KMT2D):c.9328C>T (p.Arg3110Cys) rs773164595 0.00001
NM_003482.4(KMT2D):c.9502A>G (p.Met3168Val) rs749463020 0.00001
NM_003482.4(KMT2D):c.961C>T (p.Arg321Trp) rs1204392134 0.00001
NM_003482.4(KMT2D):c.9655G>A (p.Ala3219Thr) rs369597292 0.00001
NM_003482.4(KMT2D):c.970C>T (p.Arg324Trp) rs1370093761 0.00001
NM_003482.4(KMT2D):c.9720G>C (p.Leu3240=) rs370192252 0.00001
NM_003482.4(KMT2D):c.9958G>A (p.Ala3320Thr) rs763426078 0.00001
NM_003482.4(KMT2D):c.9970G>C (p.Gly3324Arg) rs765543006 0.00001
NM_003482.4(KMT2D):c.9971G>T (p.Gly3324Val) rs201050032 0.00001
NM_003611.3(OFD1):c.1479A>C (p.Ile493=) rs746039988 0.00001
NM_003611.3(OFD1):c.1594G>A (p.Val532Ile) rs780521580 0.00001
NM_003611.3(OFD1):c.2117C>T (p.Thr706Ile) rs773224811 0.00001
NM_003611.3(OFD1):c.2559C>T (p.Asp853=) rs1398505825 0.00001
NM_003611.3(OFD1):c.359C>T (p.Thr120Ile) rs777207192 0.00001
NM_003611.3(OFD1):c.788G>A (p.Arg263Gln) rs146279923 0.00001
NM_003611.3(OFD1):c.984T>G (p.Leu328=) rs61734977 0.00001
NM_003722.5(TP63):c.1404A>G (p.Lys468=) rs753627633 0.00001
NM_003722.5(TP63):c.210G>C (p.Gln70His) rs201631366 0.00001
NM_003722.5(TP63):c.303G>A (p.Ser101=) rs186864205 0.00001
NM_003722.5(TP63):c.992+4A>C rs534974406 0.00001
NM_003738.5(PTCH2):c.1493C>T (p.Thr498Met) rs755775675 0.00001
NM_003738.5(PTCH2):c.1611C>T (p.Cys537=) rs372959991 0.00001
NM_003738.5(PTCH2):c.525+19A>C rs770589703 0.00001
NM_003850.3(SUCLA2):c.88C>G (p.Gln30Glu) rs568437392 0.00001
NM_003923.3(FOXH1):c.617C>T (p.Thr206Ile) rs763416777 0.00001
NM_003924.4(PHOX2B):c.270C>T (p.Gly90=) rs1420633452 0.00001
NM_004064.5(CDKN1B):c.-411T>C rs544835565 0.00001
NM_004168.4(SDHA):c.1367C>T (p.Ser456Leu) rs76896145 0.00001
NM_004168.4(SDHA):c.1371C>A (p.Leu457=) rs75091805 0.00001
NM_004168.4(SDHA):c.92G>A (p.Arg31Gln) rs752532780 0.00001
NM_004239.4(TRIP11):c.1432G>A (p.Ala478Thr) rs201112407 0.00001
NM_004260.4(RECQL4):c.2571C>T (p.Cys857=) rs368088860 0.00001
NM_004260.4(RECQL4):c.3246C>T (p.Phe1082=) rs748604051 0.00001
NM_004304.5(ALK):c.3855G>A (p.Lys1285=) rs776547376 0.00001
NM_004304.5(ALK):c.846C>T (p.Asp282=) rs56116528 0.00001
NM_004370.6(COL12A1):c.1018T>C (p.Leu340=) rs578252411 0.00001
NM_004370.6(COL12A1):c.113A>C (p.Glu38Ala) rs200828190 0.00001
NM_004370.6(COL12A1):c.2164+18C>A rs183023584 0.00001
NM_004370.6(COL12A1):c.5134G>A (p.Glu1712Lys) rs778415707 0.00001
NM_004370.6(COL12A1):c.5795-5C>T rs768037406 0.00001
NM_004370.6(COL12A1):c.5859C>T (p.Arg1953=) rs534462036 0.00001
NM_004370.6(COL12A1):c.5889A>G (p.Gln1963=) rs374671225 0.00001
NM_004370.6(COL12A1):c.8565A>G (p.Pro2855=) rs202239067 0.00001
NM_004380.3(CREBBP):c.275G>A (p.Ser92Asn) rs746902106 0.00001
NM_004380.3(CREBBP):c.3929A>G (p.Asn1310Ser) rs558051943 0.00001
NM_004380.3(CREBBP):c.4740C>T (p.Gly1580=) rs563033919 0.00001
NM_004380.3(CREBBP):c.4992C>T (p.Arg1664=) rs756979739 0.00001
NM_004380.3(CREBBP):c.504G>A (p.Thr168=) rs373310969 0.00001
NM_004380.3(CREBBP):c.5843C>T (p.Pro1948Leu) rs557611780 0.00001
NM_004380.3(CREBBP):c.5898C>A (p.Ala1966=) rs770870064 0.00001
NM_004380.3(CREBBP):c.6684C>T (p.His2228=) rs138613594 0.00001
NM_004387.4(NKX2-5):c.300C>A (p.Pro100=) rs767243751 0.00001
NM_004387.4(NKX2-5):c.309C>T (p.Ala103=) rs759221178 0.00001
NM_004456.5(EZH2):c.545A>G (p.Asn182Ser) rs746465165 0.00001
NM_004456.5(EZH2):c.557A>G (p.Asp186Gly) rs1346782884 0.00001
NM_004525.3(LRP2):c.11244C>T (p.Asn3748=) rs542010522 0.00001
NM_004525.3(LRP2):c.2636G>C (p.Trp879Ser) rs199581227 0.00001
NM_004525.3(LRP2):c.9342C>T (p.Cys3114=) rs199803029 0.00001
NM_004560.4(ROR2):c.2382G>A (p.Pro794=) rs532042443 0.00001
NM_004565.3(PEX14):c.516C>T (p.Ser172=) rs543843635 0.00001
NM_004813.4(PEX16):c.162T>C (p.Ser54=) rs552583175 0.00001
NM_004958.4(MTOR):c.3117+34G>A rs545304092 0.00001
NM_005027.4(PIK3R2):c.2171C>T (p.Pro724Leu) rs1239460949 0.00001
NM_005027.4(PIK3R2):c.311C>A (p.Ala104Asp) rs770694944 0.00001
NM_005027.4(PIK3R2):c.380T>C (p.Leu127Pro) rs920139065 0.00001
NM_005027.4(PIK3R2):c.586C>T (p.Arg196Trp) rs770193876 0.00001
NM_005045.4(RELN):c.1277G>A (p.Ser426Asn) rs568950079 0.00001
NM_005045.4(RELN):c.4719G>A (p.Thr1573=) rs370566453 0.00001
NM_005045.4(RELN):c.4934T>C (p.Ile1645Thr) rs537366000 0.00001
NM_005045.4(RELN):c.7762A>C (p.Asn2588His) rs569919781 0.00001
NM_005045.4(RELN):c.9447G>A (p.Ser3149=) rs770503009 0.00001
NM_005159.5(ACTC1):c.129+19_129+20insT rs386134228 0.00001
NM_005184.4(CALM3):c.178+19G>A rs186405375 0.00001
NM_005184.4(CALM3):c.4-3C>T rs756875833 0.00001
NM_005219.5(DIAPH1):c.2525A>C (p.Gln842Pro) rs200220260 0.00001
NM_005257.6(GATA6):c.1725C>T (p.Ala575=) rs200788504 0.00001
NM_005271.5(GLUD1):c.104G>A (p.Gly35Glu) rs552066337 0.00001
NM_005271.5(GLUD1):c.630A>G (p.Ala210=) rs368203417 0.00001
NM_005343.4(HRAS):c.378A>G (p.Glu126=) rs397517140 0.00001
NM_005359.6(SMAD4):c.*30A>C rs767288576 0.00001
NM_005359.6(SMAD4):c.*334C>T rs534790830 0.00001
NM_005359.6(SMAD4):c.*4643T>C rs369040052 0.00001
NM_005431.2(XRCC2):c.300A>G (p.Leu100=) rs146700851 0.00001
NM_005445.4(SMC3):c.1671-4T>C rs201392611 0.00001
NM_005445.4(SMC3):c.3339A>G (p.Gln1113=) rs189703529 0.00001
NM_005465.7(AKT3):c.1044C>T (p.Asn348=) rs199771220 0.00001
NM_005592.4(MUSK):c.2085A>C (p.Pro695=) rs772759899 0.00001
NM_005629.4(SLC6A8):c.1071C>T (p.Phe357=) rs782782179 0.00001
NM_005629.4(SLC6A8):c.1319G>A (p.Arg440His) rs781925657 0.00001
NM_005629.4(SLC6A8):c.1398G>A (p.Gly466=) rs782030860 0.00001
NM_005629.4(SLC6A8):c.1404C>T (p.Tyr468=) rs782696303 0.00001
NM_005629.4(SLC6A8):c.1496-7G>A rs781814962 0.00001
NM_005629.4(SLC6A8):c.1525T>C (p.Cys509Arg) rs782000377 0.00001
NM_005629.4(SLC6A8):c.1636G>A (p.Val546Ile) rs1557045675 0.00001
NM_005629.4(SLC6A8):c.1827G>A (p.Gln609=) rs782185667 0.00001
NM_005629.4(SLC6A8):c.533C>G (p.Thr178Ser) rs199937648 0.00001
NM_005629.4(SLC6A8):c.557G>A (p.Arg186His) rs372601430 0.00001
NM_005629.4(SLC6A8):c.644+20G>A rs782635587 0.00001
NM_005629.4(SLC6A8):c.678G>A (p.Glu226=) rs782524198 0.00001
NM_005629.4(SLC6A8):c.71C>T (p.Ala24Val) rs2091436513 0.00001
NM_005633.4(SOS1):c.3347-20T>G rs727505382 0.00001
NM_005633.4(SOS1):c.3552T>G (p.Pro1184=) rs200485215 0.00001
NM_005633.4(SOS1):c.87+9C>T rs397517179 0.00001
NM_005660.3(SLC35A2):c.1025G>A (p.Arg342Gln) rs781897678 0.00001
NM_005660.3(SLC35A2):c.1110A>G (p.Pro370=) rs782273947 0.00001
NM_005660.3(SLC35A2):c.263C>T (p.Ala88Val) rs375442287 0.00001
NM_005660.3(SLC35A2):c.818G>C (p.Gly273Ala) rs1557042798 0.00001
NM_005660.3(SLC35A2):c.819C>T (p.Gly273=) rs1271812540 0.00001
NM_005660.3(SLC35A2):c.826C>T (p.Leu276Phe) rs782737391 0.00001
NM_005732.4(RAD50):c.129+10C>A rs570876192 0.00001
NM_005732.4(RAD50):c.255A>G (p.Gln85=) rs761802581 0.00001
NM_005732.4(RAD50):c.3807T>C (p.His1269=) rs755777007 0.00001
NM_005751.5(AKAP9):c.7683T>C (p.Leu2561=) rs746961943 0.00001
NM_005908.4(MANBA):c.1512G>A (p.Thr504=) rs143694332 0.00001
NM_005921.2(MAP3K1):c.2588T>C (p.Val863Ala) rs563304338 0.00001
NM_005921.2(MAP3K1):c.770C>T (p.Pro257Leu) rs56160159 0.00001
NM_005996.4(TBX3):c.-909C>T rs527781972 0.00001
NM_005996.4(TBX3):c.1011C>T (p.Ala337=) rs745496316 0.00001
NM_005996.4(TBX3):c.309C>T (p.Pro103=) rs534364535 0.00001
NM_006015.6(ARID1A):c.6709G>A (p.Ala2237Thr) rs746165075 0.00001
NM_006121.4(KRT1):c.1482T>C (p.Ser494=) rs181516749 0.00001
NM_006147.4(IRF6):c.994G>A (p.Val332Ile) rs139649287 0.00001
NM_006306.4(SMC1A):c.*931A>G rs782237045 0.00001
NM_006306.4(SMC1A):c.3285+4G>A rs1459975526 0.00001
NM_006306.4(SMC1A):c.3619-14C>T rs782732704 0.00001
NM_006306.4(SMC1A):c.3683C>T (p.Pro1228Leu) rs782063495 0.00001
NM_006306.4(SMC1A):c.411+6C>T rs782515915 0.00001
NM_006306.4(SMC1A):c.816A>G (p.Lys272=) rs782455775 0.00001
NM_006329.4(FBLN5):c.676G>A (p.Gly226Ser) rs747288805 0.00001
NM_006371.5(CRTAP):c.167G>A (p.Ser56Asn) rs571617130 0.00001
NM_006767.4(LZTR1):c.450C>T (p.Asn150=) rs560328641 0.00001
NM_006796.3(AFG3L2):c.215-5A>C rs371046479 0.00001
NM_006907.4(PYCR1):c.-62G>A rs573221309 0.00001
NM_006939.4(SOS2):c.1211C>T (p.Pro404Leu) rs201265921 0.00001
NM_006939.4(SOS2):c.1732A>G (p.Lys578Glu) rs748480687 0.00001
NM_006939.4(SOS2):c.3147A>G (p.Ser1049=) rs750291417 0.00001
NM_006939.4(SOS2):c.3502T>C (p.Ser1168Pro) rs756607027 0.00001
NM_006939.4(SOS2):c.3944C>T (p.Ser1315Leu) rs865922330 0.00001
NM_006941.4(SOX10):c.*537G>C rs565069012 0.00001
NM_007129.5(ZIC2):c.1314G>A (p.Pro438=) rs762579383 0.00001
NM_007254.4(PNKP):c.56C>T (p.Ala19Val) rs201258910 0.00001
NM_012243.3(SLC35A3):c.6C>T (p.Phe2=) rs745545998 0.00001
NM_012330.4(KAT6B):c.1367T>C (p.Ile456Thr) rs766318986 0.00001
NM_012330.4(KAT6B):c.1387C>T (p.Arg463Cys) rs1222902525 0.00001
NM_012330.4(KAT6B):c.1540A>G (p.Thr514Ala) rs534868169 0.00001
NM_012330.4(KAT6B):c.1654A>G (p.Thr552Ala) rs373962168 0.00001
NM_012330.4(KAT6B):c.2099A>G (p.Gln700Arg) rs371018598 0.00001
NM_012330.4(KAT6B):c.2501A>T (p.Glu834Val) rs768402080 0.00001
NM_012330.4(KAT6B):c.3109G>A (p.Ala1037Thr) rs754306389 0.00001
NM_012330.4(KAT6B):c.3226G>A (p.Glu1076Lys) rs750930283 0.00001
NM_012330.4(KAT6B):c.3533T>C (p.Ile1178Thr) rs1264397368 0.00001
NM_012330.4(KAT6B):c.365A>G (p.Asn122Ser) rs1287506606 0.00001
NM_012330.4(KAT6B):c.3718G>A (p.Glu1240Lys) rs140989004 0.00001
NM_012330.4(KAT6B):c.3728A>G (p.Lys1243Arg) rs758355954 0.00001
NM_012330.4(KAT6B):c.4080A>G (p.Glu1360=) rs546432678 0.00001
NM_012330.4(KAT6B):c.4435G>A (p.Val1479Ile) rs775255115 0.00001
NM_012330.4(KAT6B):c.4570G>A (p.Asp1524Asn) rs545973592 0.00001
NM_012330.4(KAT6B):c.4656C>G (p.Ser1552Arg) rs768290031 0.00001
NM_012330.4(KAT6B):c.679C>T (p.Arg227Cys) rs749252195 0.00001
NM_012414.4(RAB3GAP2):c.774A>G (p.Leu258=) rs576411922 0.00001
NM_013275.6(ANKRD11):c.2889C>T (p.Asp963=) rs139955323 0.00001
NM_013275.6(ANKRD11):c.3869A>G (p.His1290Arg) rs764356904 0.00001
NM_013275.6(ANKRD11):c.389A>G (p.Asn130Ser) rs745320027 0.00001
NM_013275.6(ANKRD11):c.5167A>C (p.Arg1723=) rs200482809 0.00001
NM_013275.6(ANKRD11):c.5196C>T (p.Tyr1732=) rs567432230 0.00001
NM_013275.6(ANKRD11):c.5412C>T (p.Ser1804=) rs768481687 0.00001
NM_013275.6(ANKRD11):c.5415C>T (p.Val1805=) rs549029103 0.00001
NM_013275.6(ANKRD11):c.5998C>T (p.Leu2000Phe) rs777086823 0.00001
NM_013275.6(ANKRD11):c.6622T>G (p.Ser2208Ala) rs778171762 0.00001
NM_013275.6(ANKRD11):c.7368C>T (p.Cys2456=) rs139103143 0.00001
NM_013275.6(ANKRD11):c.7731A>C (p.Ser2577=) rs564437715 0.00001
NM_013352.4(DSE):c.2334G>T (p.Leu778=) rs534248134 0.00001
NM_014140.4(SMARCAL1):c.72A>G (p.Arg24=) rs199805770 0.00001
NM_014141.6(CNTNAP2):c.402+13C>A rs532060379 0.00001
NM_014244.5(ADAMTS2):c.1596C>G (p.Pro532=) rs766855796 0.00001
NM_014321.4(ORC6):c.*479G>A rs533502054 0.00001
NM_014423.4(AFF4):c.1968T>C (p.Ser656=) rs192660791 0.00001
NM_014795.4(ZEB2):c.1327A>G (p.Met443Val) rs763297068 0.00001
NM_014795.4(ZEB2):c.139G>T (p.Ala47Ser) rs730881184 0.00001
NM_014795.4(ZEB2):c.150C>T (p.Asp50=) rs587780996 0.00001
NM_014795.4(ZEB2):c.179C>T (p.Thr60Met) rs780890592 0.00001
NM_014795.4(ZEB2):c.1877G>A (p.Gly626Glu) rs794727923 0.00001
NM_014795.4(ZEB2):c.2004G>T (p.Glu668Asp) rs767506087 0.00001
NM_014795.4(ZEB2):c.2043G>A (p.Val681=) rs769391382 0.00001
NM_014795.4(ZEB2):c.2203C>T (p.Pro735Ser) rs144154908 0.00001
NM_014795.4(ZEB2):c.2497A>G (p.Thr833Ala) rs1490526407 0.00001
NM_014795.4(ZEB2):c.2565C>G (p.Asn855Lys) rs904620951 0.00001
NM_014795.4(ZEB2):c.26G>A (p.Gly9Asp) rs1242134764 0.00001
NM_014795.4(ZEB2):c.2804T>C (p.Met935Thr) rs201902790 0.00001
NM_014795.4(ZEB2):c.28C>T (p.Pro10Ser) rs1451219938 0.00001
NM_014795.4(ZEB2):c.2935A>G (p.Met979Val) rs777220598 0.00001
NM_014795.4(ZEB2):c.385G>A (p.Ala129Thr) rs730881187 0.00001
NM_014795.4(ZEB2):c.467G>A (p.Arg156His) rs1250217464 0.00001
NM_014795.4(ZEB2):c.593-8G>A rs772118840 0.00001
NM_015272.5(RPGRIP1L):c.1808G>A (p.Gly603Asp) rs537925312 0.00001
NM_015272.5(RPGRIP1L):c.1944G>A (p.Val648=) rs532450170 0.00001
NM_015272.5(RPGRIP1L):c.2030C>T (p.Thr677Ile) rs532768944 0.00001
NM_015272.5(RPGRIP1L):c.2522A>G (p.His841Arg) rs766357656 0.00001
NM_015311.3(OBSL1):c.600G>A (p.Arg200=) rs373739744 0.00001
NM_015335.5(MED13L):c.1654A>G (p.Ile552Val) rs371805787 0.00001
NM_015335.5(MED13L):c.1924G>C (p.Asp642His) rs375037374 0.00001
NM_015335.5(MED13L):c.2019A>T (p.Leu673Phe) rs752891084 0.00001
NM_015335.5(MED13L):c.2488C>T (p.Arg830Cys) rs375719087 0.00001
NM_015335.5(MED13L):c.2812G>A (p.Val938Ile) rs750422287 0.00001
NM_015335.5(MED13L):c.4294G>A (p.Glu1432Lys) rs758950766 0.00001
NM_015335.5(MED13L):c.451G>A (p.Glu151Lys) rs773315749 0.00001
NM_015335.5(MED13L):c.4607C>T (p.Ala1536Val) rs527644823 0.00001
NM_015335.5(MED13L):c.4859G>A (p.Gly1620Asp) rs775899433 0.00001
NM_015335.5(MED13L):c.731C>T (p.Pro244Leu) rs775015157 0.00001
NM_015338.6(ASXL1):c.3235T>C (p.Ser1079Pro) rs778886643 0.00001
NM_015443.4(KANSL1):c.1255A>G (p.Thr419Ala) rs778528850 0.00001
NM_015443.4(KANSL1):c.2158C>T (p.Arg720Cys) rs376233499 0.00001
NM_015443.4(KANSL1):c.2194A>G (p.Thr732Ala) rs1036089094 0.00001
NM_015443.4(KANSL1):c.2225G>A (p.Arg742Gln) rs752047149 0.00001
NM_015443.4(KANSL1):c.2541G>A (p.Ser847=) rs200079722 0.00001
NM_015443.4(KANSL1):c.2743G>A (p.Ala915Thr) rs756685224 0.00001
NM_015443.4(KANSL1):c.2838-9G>T rs190142867 0.00001
NM_015443.4(KANSL1):c.3016G>T (p.Ala1006Ser) rs1286813277 0.00001
NM_015443.4(KANSL1):c.3236C>T (p.Ala1079Val) rs370112084 0.00001
NM_015443.4(KANSL1):c.3245C>T (p.Ser1082Leu) rs749241540 0.00001
NM_015443.4(KANSL1):c.3275A>G (p.His1092Arg) rs963795454 0.00001
NM_015443.4(KANSL1):c.3292A>G (p.Thr1098Ala) rs1470593799 0.00001
NM_015631.6(TCTN3):c.324C>T (p.Asp108=) rs566756038 0.00001
NM_015713.4(RRM2B):c.-101G>A rs374844049 0.00001
NM_016169.4(SUFU):c.645C>T (p.Asn215=) rs551772204 0.00001
NM_016277.5(RAB23):c.218C>T (p.Ala73Val) rs556931606 0.00001
NM_016277.5(RAB23):c.93A>G (p.Lys31=) rs201735614 0.00001
NM_017617.5(NOTCH1):c.1000G>A (p.Glu334Lys) rs779061035 0.00001
NM_017617.5(NOTCH1):c.1077C>T (p.Cys359=) rs202235419 0.00001
NM_017617.5(NOTCH1):c.1162G>A (p.Asp388Asn) rs1290954710 0.00001
NM_017617.5(NOTCH1):c.1205C>T (p.Ser402Leu) rs1037236860 0.00001
NM_017617.5(NOTCH1):c.1214C>T (p.Thr405Met) rs370746889 0.00001
NM_017617.5(NOTCH1):c.1237G>A (p.Val413Met) rs373770404 0.00001
NM_017617.5(NOTCH1):c.123T>C (p.Asn41=) rs1207676067 0.00001
NM_017617.5(NOTCH1):c.1266C>G (p.Pro422=) rs762533002 0.00001
NM_017617.5(NOTCH1):c.1309G>A (p.Glu437Lys) rs1060502238 0.00001
NM_017617.5(NOTCH1):c.1384C>G (p.Gln462Glu) rs747502723 0.00001
NM_017617.5(NOTCH1):c.1461C>T (p.Cys487=) rs754876256 0.00001
NM_017617.5(NOTCH1):c.157G>A (p.Val53Met) rs757497167 0.00001
NM_017617.5(NOTCH1):c.1750G>A (p.Val584Ile) rs763886355 0.00001
NM_017617.5(NOTCH1):c.1775G>A (p.Arg592His) rs544117297 0.00001
NM_017617.5(NOTCH1):c.1815C>T (p.Asn605=) rs781029850 0.00001
NM_017617.5(NOTCH1):c.1929T>C (p.Asp643=) rs527323201 0.00001
NM_017617.5(NOTCH1):c.1951G>A (p.Asp651Asn) rs1182867386 0.00001
NM_017617.5(NOTCH1):c.1972A>G (p.Lys658Glu) rs1260932753 0.00001
NM_017617.5(NOTCH1):c.1977C>A (p.Ile659=) rs766577980 0.00001
NM_017617.5(NOTCH1):c.197C>T (p.Thr66Ile) rs752133245 0.00001
NM_017617.5(NOTCH1):c.2038G>A (p.Asp680Asn) rs749761941 0.00001
NM_017617.5(NOTCH1):c.2067C>T (p.Asn689=) rs751619078 0.00001
NM_017617.5(NOTCH1):c.2079C>T (p.Cys693=) rs753710836 0.00001
NM_017617.5(NOTCH1):c.2116G>A (p.Glu706Lys) rs368494947 0.00001
NM_017617.5(NOTCH1):c.2127C>T (p.His709=) rs755898711 0.00001
NM_017617.5(NOTCH1):c.2134A>G (p.Thr712Ala) rs200692749 0.00001
NM_017617.5(NOTCH1):c.2175C>T (p.Cys725=) rs770313470 0.00001
NM_017617.5(NOTCH1):c.230T>G (p.Val77Gly) rs760700593 0.00001
NM_017617.5(NOTCH1):c.2311A>G (p.Met771Val) rs371117125 0.00001
NM_017617.5(NOTCH1):c.2425G>A (p.Asp809Asn) rs762729988 0.00001
NM_017617.5(NOTCH1):c.244G>A (p.Val82Met) rs571831870 0.00001
NM_017617.5(NOTCH1):c.2474C>T (p.Thr825Met) rs754775789 0.00001
NM_017617.5(NOTCH1):c.2577G>A (p.Thr859=) rs747189377 0.00001
NM_017617.5(NOTCH1):c.2630C>T (p.Pro877Leu) rs371050668 0.00001
NM_017617.5(NOTCH1):c.2641G>A (p.Gly881Ser) rs756555345 0.00001
NM_017617.5(NOTCH1):c.2644G>A (p.Ala882Thr) rs767886377 0.00001
NM_017617.5(NOTCH1):c.2719G>A (p.Asp907Asn) rs757628476 0.00001
NM_017617.5(NOTCH1):c.2735G>A (p.Arg912Gln) rs773185855 0.00001
NM_017617.5(NOTCH1):c.2753A>G (p.Asn918Ser) rs367586502 0.00001
NM_017617.5(NOTCH1):c.2876A>C (p.Asn959Thr) rs1358942894 0.00001
NM_017617.5(NOTCH1):c.2882C>T (p.Thr961Met) rs377343669 0.00001
NM_017617.5(NOTCH1):c.2916C>T (p.Pro972=) rs754724517 0.00001
NM_017617.5(NOTCH1):c.2951C>T (p.Thr984Met) rs769132985 0.00001
NM_017617.5(NOTCH1):c.314C>G (p.Ala105Gly) rs1212259128 0.00001
NM_017617.5(NOTCH1):c.3160C>A (p.Pro1054Thr) rs1018501056 0.00001
NM_017617.5(NOTCH1):c.3363C>G (p.Leu1121=) rs534486656 0.00001
NM_017617.5(NOTCH1):c.3496G>A (p.Gly1166Ser) rs754815022 0.00001
NM_017617.5(NOTCH1):c.3631C>T (p.Arg1211Trp) rs766644919 0.00001
NM_017617.5(NOTCH1):c.3632G>A (p.Arg1211Gln) rs756362905 0.00001
NM_017617.5(NOTCH1):c.365T>G (p.Leu122Arg) rs984769025 0.00001
NM_017617.5(NOTCH1):c.3685G>A (p.Val1229Ile) rs766198119 0.00001
NM_017617.5(NOTCH1):c.3694G>A (p.Val1232Met) rs750169914 0.00001
NM_017617.5(NOTCH1):c.3706C>T (p.Pro1236Ser) rs749988739 0.00001
NM_017617.5(NOTCH1):c.3710A>G (p.Lys1237Arg) rs576434469 0.00001
NM_017617.5(NOTCH1):c.3829G>A (p.Asp1277Asn) rs550872754 0.00001
NM_017617.5(NOTCH1):c.389C>T (p.Pro130Leu) rs750539322 0.00001
NM_017617.5(NOTCH1):c.3954T>A (p.Asn1318Lys) rs754634957 0.00001
NM_017617.5(NOTCH1):c.3988C>T (p.Arg1330Cys) rs1249540119 0.00001
NM_017617.5(NOTCH1):c.3990C>T (p.Arg1330=) rs775448292 0.00001
NM_017617.5(NOTCH1):c.4057G>A (p.Gly1353Ser) rs761908188 0.00001
NM_017617.5(NOTCH1):c.4103G>A (p.Arg1368His) rs779086531 0.00001
NM_017617.5(NOTCH1):c.4309G>A (p.Gly1437Arg) rs780500109 0.00001
NM_017617.5(NOTCH1):c.4417G>A (p.Gly1473Ser) rs763685504 0.00001
NM_017617.5(NOTCH1):c.4451A>G (p.Asn1484Ser) rs759828439 0.00001
NM_017617.5(NOTCH1):c.4472C>T (p.Thr1491Met) rs369915496 0.00001
NM_017617.5(NOTCH1):c.4571C>T (p.Ala1524Val) rs774374213 0.00001
NM_017617.5(NOTCH1):c.4686G>A (p.Ala1562=) rs1392196185 0.00001
NM_017617.5(NOTCH1):c.4717A>G (p.Thr1573Ala) rs762492041 0.00001
NM_017617.5(NOTCH1):c.4900G>A (p.Ala1634Thr) rs757260114 0.00001
NM_017617.5(NOTCH1):c.4906G>A (p.Glu1636Lys) rs764006572 0.00001
NM_017617.5(NOTCH1):c.4984C>T (p.Arg1662Trp) rs1456612268 0.00001
NM_017617.5(NOTCH1):c.4C>G (p.Pro2Ala) rs975429231 0.00001
NM_017617.5(NOTCH1):c.505A>G (p.Ser169Gly) rs1394975333 0.00001
NM_017617.5(NOTCH1):c.5168-5C>T rs757370134 0.00001
NM_017617.5(NOTCH1):c.5214C>T (p.Tyr1738=) rs757538884 0.00001
NM_017617.5(NOTCH1):c.5222C>T (p.Ala1741Val) rs752754662 0.00001
NM_017617.5(NOTCH1):c.5344A>C (p.Lys1782Gln) rs1188095516 0.00001
NM_017617.5(NOTCH1):c.5568T>C (p.Ser1856=) rs535478432 0.00001
NM_017617.5(NOTCH1):c.5572A>C (p.Met1858Leu) rs779337715 0.00001
NM_017617.5(NOTCH1):c.5690C>T (p.Thr1897Met) rs746237272 0.00001
NM_017617.5(NOTCH1):c.5721G>A (p.Pro1907=) rs1020718980 0.00001
NM_017617.5(NOTCH1):c.5725G>A (p.Val1909Ile) rs751228412 0.00001
NM_017617.5(NOTCH1):c.5734G>A (p.Asp1912Asn) rs375978224 0.00001
NM_017617.5(NOTCH1):c.5784C>T (p.Gly1928=) rs773571672 0.00001
NM_017617.5(NOTCH1):c.5805C>T (p.Ala1935=) rs774693459 0.00001
NM_017617.5(NOTCH1):c.581C>T (p.Thr194Ile) rs760005580 0.00001
NM_017617.5(NOTCH1):c.5870A>C (p.Gln1957Pro) rs201174576 0.00001
NM_017617.5(NOTCH1):c.587A>G (p.His196Arg) rs1157720260 0.00001
NM_017617.5(NOTCH1):c.5972G>A (p.Arg1991His) rs1371022203 0.00001
NM_017617.5(NOTCH1):c.6061G>A (p.Val2021Ile) rs759643831 0.00001
NM_017617.5(NOTCH1):c.6106G>A (p.Ala2036Thr) rs542300217 0.00001
NM_017617.5(NOTCH1):c.613G>A (p.Val205Ile) rs979299004 0.00001
NM_017617.5(NOTCH1):c.622G>A (p.Ala208Thr) rs745817995 0.00001
NM_017617.5(NOTCH1):c.6257A>G (p.Asn2086Ser) rs201058656 0.00001
NM_017617.5(NOTCH1):c.6260G>A (p.Arg2087Gln) rs768543030 0.00001
NM_017617.5(NOTCH1):c.6265A>G (p.Ile2089Val) rs749262096 0.00001
NM_017617.5(NOTCH1):c.6295G>A (p.Asp2099Asn) rs766745955 0.00001
NM_017617.5(NOTCH1):c.632C>G (p.Thr211Ser) rs1401319182 0.00001
NM_017617.5(NOTCH1):c.6358C>T (p.Arg2120Cys) rs375969725 0.00001
NM_017617.5(NOTCH1):c.6395C>T (p.Thr2132Met) rs777501680 0.00001
NM_017617.5(NOTCH1):c.6453C>T (p.Pro2151=) rs377302245 0.00001
NM_017617.5(NOTCH1):c.6456C>T (p.Gly2152=) rs368287903 0.00001
NM_017617.5(NOTCH1):c.6476G>A (p.Arg2159His) rs1060502233 0.00001
NM_017617.5(NOTCH1):c.649C>T (p.Arg217Trp) rs757003332 0.00001
NM_017617.5(NOTCH1):c.6503G>A (p.Cys2168Tyr) rs1055326153 0.00001
NM_017617.5(NOTCH1):c.6582C>T (p.Ser2194=) rs200853719 0.00001
NM_017617.5(NOTCH1):c.6593C>T (p.Ser2198Leu) rs761562076 0.00001
NM_017617.5(NOTCH1):c.6637G>A (p.Val2213Met) rs376241938 0.00001
NM_017617.5(NOTCH1):c.6680C>T (p.Pro2227Leu) rs751456570 0.00001
NM_017617.5(NOTCH1):c.6745G>A (p.Val2249Met) rs369457922 0.00001
NM_017617.5(NOTCH1):c.674C>G (p.Ser225Trp) rs553542677 0.00001
NM_017617.5(NOTCH1):c.6784G>A (p.Gly2262Ser) rs780071276 0.00001
NM_017617.5(NOTCH1):c.6789G>C (p.Arg2263=) rs1367699274 0.00001
NM_017617.5(NOTCH1):c.6871G>A (p.Gly2291Arg) rs367721906 0.00001
NM_017617.5(NOTCH1):c.6897C>T (p.Gly2299=) rs201643432 0.00001
NM_017617.5(NOTCH1):c.6910T>G (p.Leu2304Val) rs749993527 0.00001
NM_017617.5(NOTCH1):c.6921A>G (p.Gln2307=) rs1361904973 0.00001
NM_017617.5(NOTCH1):c.6937C>T (p.Arg2313Trp) rs374453977 0.00001
NM_017617.5(NOTCH1):c.6949G>A (p.Gly2317Ser) rs747022065 0.00001
NM_017617.5(NOTCH1):c.6968A>G (p.Tyr2323Cys) rs779811889 0.00001
NM_017617.5(NOTCH1):c.7046C>T (p.Pro2349Leu) rs540165156 0.00001
NM_017617.5(NOTCH1):c.7047G>A (p.Pro2349=) rs775336930 0.00001
NM_017617.5(NOTCH1):c.707C>T (p.Thr236Met) rs537766290 0.00001
NM_017617.5(NOTCH1):c.7138G>A (p.Val2380Met) rs769693988 0.00001
NM_017617.5(NOTCH1):c.7157A>G (p.Gln2386Arg) rs746658493 0.00001
NM_017617.5(NOTCH1):c.7189C>T (p.Leu2397=) rs374789141 0.00001
NM_017617.5(NOTCH1):c.7291C>T (p.Arg2431Trp) rs758410389 0.00001
NM_017617.5(NOTCH1):c.743-14C>T rs536768165 0.00001
NM_017617.5(NOTCH1):c.743-18C>T rs769949581 0.00001
NM_017617.5(NOTCH1):c.7631A>G (p.Gln2544Arg) rs764749582 0.00001
NM_017617.5(NOTCH1):c.7642G>A (p.Ala2548Thr) rs761156723 0.00001
NM_017617.5(NOTCH1):c.764A>G (p.Glu255Gly) rs1186718194 0.00001
NM_017617.5(NOTCH1):c.79C>A (p.Pro27Thr) rs769784635 0.00001
NM_017780.4(CHD7):c.1060C>G (p.Pro354Ala) rs878893652 0.00001
NM_017780.4(CHD7):c.1141A>G (p.Met381Val) rs144778638 0.00001
NM_017780.4(CHD7):c.124C>T (p.Pro42Ser) rs1300386910 0.00001
NM_017780.4(CHD7):c.1327A>G (p.Met443Val) rs559364802 0.00001
NM_017780.4(CHD7):c.139T>G (p.Phe47Val) rs1364452059 0.00001
NM_017780.4(CHD7):c.1566C>T (p.Gly522=) rs759347960 0.00001
NM_017780.4(CHD7):c.164A>G (p.His55Arg) rs121434345 0.00001
NM_017780.4(CHD7):c.1657G>T (p.Val553Leu) rs745476515 0.00001
NM_017780.4(CHD7):c.1703C>T (p.Pro568Leu) rs757689264 0.00001
NM_017780.4(CHD7):c.1768A>G (p.Ile590Val) rs769625033 0.00001
NM_017780.4(CHD7):c.176C>G (p.Thr59Ser) rs548706525 0.00001
NM_017780.4(CHD7):c.2062G>A (p.Ala688Thr) rs1187193827 0.00001
NM_017780.4(CHD7):c.2063C>T (p.Ala688Val) rs759010289 0.00001
NM_017780.4(CHD7):c.2827G>A (p.Glu943Lys) rs751691380 0.00001
NM_017780.4(CHD7):c.2874T>A (p.Ser958Arg) rs773259542 0.00001
NM_017780.4(CHD7):c.289G>A (p.Gly97Arg) rs368160678 0.00001
NM_017780.4(CHD7):c.3001A>G (p.Ile1001Val) rs375374626 0.00001
NM_017780.4(CHD7):c.302C>T (p.Pro101Leu) rs769161426 0.00001
NM_017780.4(CHD7):c.3054T>G (p.Pro1018=) rs201320784 0.00001
NM_017780.4(CHD7):c.323C>A (p.Pro108His) rs369818702 0.00001
NM_017780.4(CHD7):c.3899C>A (p.Pro1300Gln) rs185150226 0.00001
NM_017780.4(CHD7):c.4903A>G (p.Thr1635Ala) rs372587744 0.00001
NM_017780.4(CHD7):c.5131G>A (p.Asp1711Asn) rs748590759 0.00001
NM_017780.4(CHD7):c.5148C>T (p.Cys1716=) rs907665748 0.00001
NM_017780.4(CHD7):c.528G>A (p.Gly176=) rs986970598 0.00001
NM_017780.4(CHD7):c.5367A>T (p.Glu1789Asp) rs1233584524 0.00001
NM_017780.4(CHD7):c.548C>T (p.Pro183Leu) rs751847978 0.00001
NM_017780.4(CHD7):c.5689G>A (p.Glu1897Lys) rs766110936 0.00001
NM_017780.4(CHD7):c.5722A>C (p.Thr1908Pro) rs1329534393 0.00001
NM_017780.4(CHD7):c.5789G>A (p.Arg1930Lys) rs535347450 0.00001
NM_017780.4(CHD7):c.5816G>A (p.Arg1939Gln) rs1024797402 0.00001
NM_017780.4(CHD7):c.5828G>A (p.Arg1943Gln) rs753723769 0.00001
NM_017780.4(CHD7):c.5834G>A (p.Arg1945Gln) rs374040699 0.00001
NM_017780.4(CHD7):c.583C>T (p.Arg195Cys) rs773990845 0.00001
NM_017780.4(CHD7):c.6195C>T (p.Arg2065=) rs750835437 0.00001
NM_017780.4(CHD7):c.6236A>C (p.Lys2079Thr) rs377497122 0.00001
NM_017780.4(CHD7):c.6349C>T (p.Leu2117Phe) rs367733295 0.00001
NM_017780.4(CHD7):c.6358C>G (p.Pro2120Ala) rs375490876 0.00001
NM_017780.4(CHD7):c.6596G>A (p.Ser2199Asn) rs1064794854 0.00001
NM_017780.4(CHD7):c.6670G>A (p.Gly2224Ser) rs758745100 0.00001
NM_017780.4(CHD7):c.6967A>G (p.Ile2323Val) rs755973702 0.00001
NM_017780.4(CHD7):c.7018T>C (p.Phe2340Leu) rs766773531 0.00001
NM_017780.4(CHD7):c.7024T>C (p.Phe2342Leu) rs1419897952 0.00001
NM_017780.4(CHD7):c.702C>G (p.His234Gln) rs565216093 0.00001
NM_017780.4(CHD7):c.7179C>A (p.Asn2393Lys) rs753446252 0.00001
NM_017780.4(CHD7):c.7199G>A (p.Arg2400Gln) rs534510177 0.00001
NM_017780.4(CHD7):c.733A>G (p.Met245Val) rs768507639 0.00001
NM_017780.4(CHD7):c.73G>A (p.Gly25Arg) rs759887905 0.00001
NM_017780.4(CHD7):c.7469C>T (p.Ser2490Leu) rs371595770 0.00001
NM_017780.4(CHD7):c.7472G>A (p.Arg2491His) rs528722099 0.00001
NM_017780.4(CHD7):c.7485G>T (p.Arg2495Ser) rs547209998 0.00001
NM_017780.4(CHD7):c.7673C>T (p.Pro2558Leu) rs776711005 0.00001
NM_017780.4(CHD7):c.8040A>G (p.Ala2680=) rs576905094 0.00001
NM_017780.4(CHD7):c.8128C>T (p.Arg2710Trp) rs1418386669 0.00001
NM_017780.4(CHD7):c.8141C>T (p.Ala2714Val) rs573554562 0.00001
NM_017780.4(CHD7):c.8168G>A (p.Ser2723Asn) rs756347672 0.00001
NM_017780.4(CHD7):c.8365G>A (p.Ala2789Thr) rs200140270 0.00001
NM_017780.4(CHD7):c.839C>G (p.Pro280Arg) rs760775347 0.00001
NM_017780.4(CHD7):c.8557G>A (p.Glu2853Lys) rs774843956 0.00001
NM_017780.4(CHD7):c.8562C>G (p.Asn2854Lys) rs1222693383 0.00001
NM_017780.4(CHD7):c.8773G>A (p.Ala2925Thr) rs762344310 0.00001
NM_017780.4(CHD7):c.8798C>G (p.Ser2933Cys) rs374344463 0.00001
NM_017780.4(CHD7):c.8803G>A (p.Glu2935Lys) rs745944842 0.00001
NM_017780.4(CHD7):c.883C>T (p.Arg295Trp) rs750978197 0.00001
NM_017780.4(CHD7):c.89C>T (p.Pro30Leu) rs768014298 0.00001
NM_017780.4(CHD7):c.910A>G (p.Ile304Val) rs1274555136 0.00001
NM_017780.4(CHD7):c.986A>G (p.Asn329Ser) rs777040556 0.00001
NM_017780.4(CHD7):c.988C>G (p.Gln330Glu) rs1053945677 0.00001
NM_017780.4(CHD7):c.98C>G (p.Pro33Arg) rs763572916 0.00001
NM_018026.4(PACS1):c.1491-4G>C rs1000498364 0.00001
NM_018026.4(PACS1):c.2378C>T (p.Thr793Met) rs763210681 0.00001
NM_018026.4(PACS1):c.2776+5G>A rs371976817 0.00001
NM_018026.4(PACS1):c.650A>G (p.Asn217Ser) rs767885129 0.00001
NM_018026.4(PACS1):c.691G>C (p.Val231Leu) rs754155683 0.00001
NM_018238.4(AGK):c.619A>G (p.Thr207Ala) rs561898521 0.00001
NM_018486.3(HDAC8):c.1111+10G>T rs373892213 0.00001
NM_018486.3(HDAC8):c.357G>A (p.Thr119=) rs782021788 0.00001
NM_018486.3(HDAC8):c.438-17A>G rs782753936 0.00001
NM_018486.3(HDAC8):c.910+17G>T rs782676451 0.00001
NM_020320.5(RARS2):c.1678C>T (p.Arg560Cys) rs562472225 0.00001
NM_020436.5(SALL4):c.609C>A (p.Ala203=) rs200416079 0.00001
NM_020458.4(TTC7A):c.1203+13A>G rs199621267 0.00001
NM_020529.3(NFKBIA):c.162C>T (p.Leu54=) rs138468321 0.00001
NM_020529.3(NFKBIA):c.336+3G>A rs769147621 0.00001
NM_020529.3(NFKBIA):c.866A>G (p.Tyr289Cys) rs957688002 0.00001
NM_020529.3(NFKBIA):c.894C>T (p.Phe298=) rs777020702 0.00001
NM_020779.4(WDR35):c.1845+16G>A rs376710057 0.00001
NM_020937.4(FANCM):c.1183+8A>G rs538172189 0.00001
NM_020964.3(EPG5):c.3582+12G>C rs554695413 0.00001
NM_020964.3(EPG5):c.4584G>C (p.Leu1528Phe) rs199978382 0.00001
NM_020975.6(RET):c.1064-18T>C rs546346375 0.00001
NM_020975.6(RET):c.2070C>T (p.Ser690=) rs201550433 0.00001
NM_020975.6(RET):c.2268C>T (p.Ala756=) rs370791179 0.00001
NM_020975.6(RET):c.235C>T (p.Arg79Trp) rs537523906 0.00001
NM_020975.6(RET):c.2715C>T (p.Tyr905=) rs755023496 0.00001
NM_021625.5(TRPV4):c.1455C>T (p.Phe485=) rs189872222 0.00001
NM_021625.5(TRPV4):c.650C>T (p.Ala217Val) rs548909101 0.00001
NM_021830.5(TWNK):c.1244-14C>T rs758757135 0.00001
NM_021830.5(TWNK):c.1488T>C (p.Thr496=) rs549767223 0.00001
NM_021926.4(ALX4):c.474G>C (p.Glu158Asp) rs553689111 0.00001
NM_021939.4(FKBP10):c.492G>A (p.Pro164=) rs529337443 0.00001
NM_022114.4(PRDM16):c.2058G>A (p.Thr686=) rs368426649 0.00001
NM_022114.4(PRDM16):c.2539A>T (p.Met847Leu) rs369624816 0.00001
NM_022166.4(XYLT1):c.1935C>T (p.Ser645=) rs543473631 0.00001
NM_022166.4(XYLT1):c.624C>T (p.Phe208=) rs372923585 0.00001
NM_022168.4(IFIH1):c.1096-10T>A rs773810038 0.00001
NM_022168.4(IFIH1):c.622+15A>G rs200515533 0.00001
NM_022168.4(IFIH1):c.919C>T (p.Gln307Ter) rs762821474 0.00001
NM_022369.4(STRA6):c.105G>A (p.Gln35=) rs199782189 0.00001
NM_022455.5(NSD1):c.4883T>C (p.Met1628Thr) rs530920626 0.00001
NM_022458.4(LMBR1):c.1159-3C>T rs369446617 0.00001
NM_022458.4(LMBR1):c.165C>T (p.Ile55=) rs752415935 0.00001
NM_022458.4(LMBR1):c.435C>T (p.Ala145=) rs563054181 0.00001
NM_022552.5(DNMT3A):c.120G>A (p.Glu40=) rs202118149 0.00001
NM_022552.5(DNMT3A):c.187G>A (p.Gly63Ser) rs781108426 0.00001
NM_022725.4(FANCF):c.640T>C (p.Leu214=) rs773556058 0.00001
NM_023110.3(FGFR1):c.1308C>T (p.Ser436=) rs546318124 0.00001
NM_023110.3(FGFR1):c.274G>A (p.Val92Met) rs755828990 0.00001
NM_023110.3(FGFR1):c.359-7C>T rs749216266 0.00001
NM_023110.3(FGFR1):c.66G>C (p.Arg22Ser) rs17175750 0.00001
NM_023110.3(FGFR1):c.68C>T (p.Pro23Leu) rs143341876 0.00001
NM_023110.3(FGFR1):c.787G>A (p.Ala263Thr) rs747978107 0.00001
NM_024009.3(GJB3):c.-3G>A rs200397530 0.00001
NM_024312.5(GNPTAB):c.228C>T (p.Asp76=) rs540190619 0.00001
NM_024312.5(GNPTAB):c.2347G>A (p.Glu783Lys) rs765924360 0.00001
NM_024312.5(GNPTAB):c.2665T>C (p.Leu889=) rs139215843 0.00001
NM_024757.5(EHMT1):c.1008C>A (p.Ser336Arg) rs760537869 0.00001
NM_024757.5(EHMT1):c.1170G>A (p.Lys390=) rs1442452133 0.00001
NM_024757.5(EHMT1):c.1271A>G (p.Lys424Arg) rs756812570 0.00001
NM_024757.5(EHMT1):c.1283A>G (p.Lys428Arg) rs370054552 0.00001
NM_024757.5(EHMT1):c.1394C>T (p.Ala465Val) rs987954303 0.00001
NM_024757.5(EHMT1):c.1513G>A (p.Gly505Ser) rs757679895 0.00001
NM_024757.5(EHMT1):c.1583A>G (p.Lys528Arg) rs752777139 0.00001
NM_024757.5(EHMT1):c.1816G>A (p.Glu606Lys) rs369492404 0.00001
NM_024757.5(EHMT1):c.199G>C (p.Ala67Pro) rs764527438 0.00001
NM_024757.5(EHMT1):c.2026G>A (p.Gly676Arg) rs757416132 0.00001
NM_024757.5(EHMT1):c.2128G>A (p.Gly710Ser) rs398124403 0.00001
NM_024757.5(EHMT1):c.217A>G (p.Thr73Ala) rs1588326023 0.00001
NM_024757.5(EHMT1):c.2187G>A (p.Ser729=) rs753928723 0.00001
NM_024757.5(EHMT1):c.2192+13_2192+14del rs766298831 0.00001
NM_024757.5(EHMT1):c.223G>C (p.Asp75His) rs777679735 0.00001
NM_024757.5(EHMT1):c.2382+4C>T rs752270107 0.00001
NM_024757.5(EHMT1):c.23C>T (p.Ala8Val) rs375391530 0.00001
NM_024757.5(EHMT1):c.2755G>A (p.Val919Met) rs749976725 0.00001
NM_024757.5(EHMT1):c.2767G>A (p.Glu923Lys) rs367643028 0.00001
NM_024757.5(EHMT1):c.2791G>A (p.Asp931Asn) rs745973990 0.00001
NM_024757.5(EHMT1):c.3035+3G>A rs765407306 0.00001
NM_024757.5(EHMT1):c.3193A>G (p.Ile1065Val) rs1444366252 0.00001
NM_024757.5(EHMT1):c.3199G>A (p.Asp1067Asn) rs751091478 0.00001
NM_024757.5(EHMT1):c.3221T>C (p.Met1074Thr) rs756062534 0.00001
NM_024757.5(EHMT1):c.3294G>T (p.Glu1098Asp) rs911814791 0.00001
NM_024757.5(EHMT1):c.3304A>G (p.Ile1102Val) rs752508274 0.00001
NM_024757.5(EHMT1):c.3687C>T (p.Thr1229=) rs201655114 0.00001
NM_024757.5(EHMT1):c.3874G>A (p.Ala1292Thr) rs756941316 0.00001
NM_024757.5(EHMT1):c.3894A>G (p.Leu1298=) rs886063743 0.00001
NM_024757.5(EHMT1):c.391G>C (p.Ala131Pro) rs990229301 0.00001
NM_024757.5(EHMT1):c.44C>T (p.Pro15Leu) rs1389665235 0.00001
NM_024757.5(EHMT1):c.484G>A (p.Gly162Ser) rs775347185 0.00001
NM_024757.5(EHMT1):c.494C>A (p.Pro165Gln) rs1945389965 0.00001
NM_024757.5(EHMT1):c.505C>T (p.Pro169Ser) rs770718072 0.00001
NM_024757.5(EHMT1):c.585C>T (p.Gly195=) rs758787514 0.00001
NM_024757.5(EHMT1):c.592G>A (p.Val198Ile) rs761554206 0.00001
NM_024757.5(EHMT1):c.633C>T (p.Val211=) rs751159756 0.00001
NM_024757.5(EHMT1):c.679G>A (p.Ala227Thr) rs1564650516 0.00001
NM_024757.5(EHMT1):c.91C>G (p.Pro31Ala) rs759512176 0.00001
NM_024757.5(EHMT1):c.998G>A (p.Gly333Asp) rs371587885 0.00001
NM_025114.4(CEP290):c.2587-19T>C rs755086278 0.00001
NM_025136.4(OPA3):c.*1052C>T rs539341907 0.00001
NM_032444.4(SLX4):c.3245A>G (p.Gln1082Arg) rs368657696 0.00001
NM_032444.4(SLX4):c.4359C>T (p.Ser1453=) rs776711072 0.00001
NM_052859.4(RFT1):c.1208+19A>G rs542117380 0.00001
NM_052859.4(RFT1):c.493G>A (p.Val165Ile) rs571575323 0.00001
NM_080632.3(UPF3B):c.265T>C (p.Leu89=) rs761622396 0.00001
NM_130837.3(OPA1):c.*228A>G rs577816325 0.00001
NM_133433.4(NIPBL):c.1392T>A (p.Pro464=) rs555179389 0.00001
NM_133433.4(NIPBL):c.3423A>G (p.Ser1141=) rs571024836 0.00001
NM_133433.4(NIPBL):c.3574+20A>C rs530238141 0.00001
NM_133459.4(CCBE1):c.*616A>G rs532612240 0.00001
NM_138425.4(C12orf57):c.240G>A (p.Lys80=) rs781825705 0.00001
NM_138959.3(VANGL1):c.*2344A>C rs531884184 0.00001
NM_138959.3(VANGL1):c.*3150T>C rs148126079 0.00001
NM_138959.3(VANGL1):c.*3559G>A rs544552151 0.00001
NM_139057.4(ADAMTS17):c.*1741A>T rs542106384 0.00001
NM_145068.4(TRPV3):c.*2604G>A rs571747640 0.00001
NM_145068.4(TRPV3):c.-2-8T>C rs762080322 0.00001
NM_145068.4(TRPV3):c.1078A>C (p.Ile360Leu) rs767689187 0.00001
NM_145068.4(TRPV3):c.1242C>T (p.Asp414=) rs779350392 0.00001
NM_145068.4(TRPV3):c.1427C>T (p.Thr476Met) rs766631634 0.00001
NM_152383.5(DIS3L2):c.1317+15C>G rs553691050 0.00001
NM_152383.5(DIS3L2):c.1585G>A (p.Val529Ile) rs773893129 0.00001
NM_152383.5(DIS3L2):c.871G>A (p.Ala291Thr) rs753115829 0.00001
NM_152564.5(VPS13B):c.10220G>A (p.Gly3407Glu) rs779782582 0.00001
NM_152564.5(VPS13B):c.11544C>T (p.Asp3848=) rs572479795 0.00001
NM_152564.5(VPS13B):c.7087A>C (p.Lys2363Gln) rs533701597 0.00001
NM_152564.5(VPS13B):c.8171A>G (p.Tyr2724Cys) rs138453594 0.00001
NM_152564.5(VPS13B):c.8201G>A (p.Arg2734Gln) rs370701337 0.00001
NM_152564.5(VPS13B):c.8661A>G (p.Ser2887=) rs199552885 0.00001
NM_152594.3(SPRED1):c.1046G>C (p.Arg349Thr) rs1221405249 0.00001
NM_152594.3(SPRED1):c.446G>A (p.Ser149Asn) rs373384814 0.00001
NM_153490.3(KRT13):c.420C>T (p.His140=) rs530596803 0.00001
NM_153490.3(KRT13):c.449G>A (p.Arg150Gln) rs548070268 0.00001
NM_153717.3(EVC):c.1428G>C (p.Glu476Asp) rs571637567 0.00001
NM_170665.4(ATP2A2):c.2742-6C>T rs201579013 0.00001
NM_174934.4(SCN4B):c.624T>C (p.Asn208=) rs770446500 0.00001
NM_181458.4(PAX3):c.1003C>T (p.Pro335Ser) rs151199924 0.00001
NM_181486.4(TBX5):c.1313G>A (p.Arg438Gln) rs557758851 0.00001
NM_181486.4(TBX5):c.1449G>A (p.Gln483=) rs117965596 0.00001
NM_181486.4(TBX5):c.729G>T (p.Glu243Asp) rs186183947 0.00001
NM_181486.4(TBX5):c.769G>A (p.Val257Met) rs200382742 0.00001
NM_181523.3(PIK3R1):c.1569-18C>T rs557466936 0.00001
NM_181523.3(PIK3R1):c.571C>T (p.Leu191=) rs533077843 0.00001
NM_182760.4(SUMF1):c.179C>T (p.Ala60Val) rs886058521 0.00001
NM_182760.4(SUMF1):c.725+14C>T rs370203683 0.00001
NM_182895.5(SCARF2):c.2181C>G (p.Pro727=) rs1171701467 0.00001
NM_182943.3(PLOD2):c.532C>T (p.Arg178Cys) rs557891596 0.00001
NM_194292.3(SASS6):c.86G>A (p.Ser29Asn) rs150589706 0.00001
NM_198253.3(TERT):c.2307C>T (p.Leu769=) rs117662357 0.00001
NM_198253.3(TERT):c.3165G>A (p.Ser1055=) rs554739019 0.00001
NM_198253.3(TERT):c.729C>T (p.Ala243=) rs762491880 0.00001
NM_198525.3(KIF7):c.2074C>G (p.Gln692Glu) rs565633539 0.00001
NM_198859.4(PRICKLE2):c.636G>A (p.Gly212=) rs567814417 0.00001
NM_198859.4(PRICKLE2):c.6G>A (p.Val2=) rs201779407 0.00001
NM_207361.6(FREM2):c.9184G>T (p.Ala3062Ser) rs140456319 0.00001
NC_000001.11:g.209806184A>T rs34743335
NC_000001.11:g.230702983G>C rs4753
NC_000001.11:g.230704350T>C rs1926723
NC_000002.11:g.(?_163128856)_(163131721_?)del
NC_000007.14:g.156764209G>A
NC_000007.14:g.156769096C>T rs375863418
NC_000007.14:g.156769416C>A
NC_000007.14:g.156769429del
NC_000007.14:g.156769446C>T
NC_000007.14:g.156779355C>T
NC_000007.14:g.156779386A>T
NC_000007.14:g.156789385T>C
NC_000007.14:g.156789388_156789391del rs533793951
NC_000008.11:g.89984913_89984916del rs36226237
NC_000008.11:g.93916851T>A rs4469422
NC_000009.12:g.35658023C>T rs7024732
NC_000009.12:g.35658038G>C rs183974004
NC_000009.12:g.35658042T>C rs529852688
NC_000009.12:g.35658073T>C rs12551232
NC_000009.12:g.35658075A>G rs3829077
NC_000010.11:g.(?_87960841)_(87960878_?)del
NC_000010.11:g.3166389_3166390insAGAGAGGAATGGCACGCTAGGGAAG
NC_000011.10:g.47349937del rs11570050
NC_000012.12:g.51907469G>C rs1002184603
NC_000014.9:g.35405317T>A rs2233407
NC_000014.9:g.35405505del rs17103265
NC_000014.9:g.90397013C>T rs12885713
NC_000015.10:g.89335160T>C rs2856268
NC_000016.10:g.13919809A>C rs6498486
NC_000016.9:g.(?_75573892)_(75575373_?)dup
NC_000016.9:g.(?_75573892)_(75576601_?)dup
NC_000017.11:g.59106913dup rs35129177
NC_000021.9:g.43063088_43063089insTGCGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGG
NC_000021.9:g.43063089_43063090insACGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGC
NC_000021.9:g.43063090_43063091insGGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCG
NC_000021.9:g.43063090_43063091insTGGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCG
NC_000021.9:g.43063091_43063092insAGCTTCAGGGCTCAAGCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGC
NC_000021.9:g.43063107_43063108insCCCAGCAAAAGCCCCACCTGGATGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG
NC_000021.9:g.43063107_43063108insCCCAGCAAAAGCCCCACCTGGATGATCCCCCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG
NC_000021.9:g.43063107_43063108insCCCAGCAAAAGCCCCACCTGGATGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG
NC_000021.9:g.43063107_43063108insCCCAGCAAAAGCCCCACCTGGCTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG
NC_000021.9:g.43063107_43063108insCCCAGCAAAAGCCCCACCTGGGTGATCCACCCCAGTGATCTGCAGAGGGCGCGGCTTCAGGGCTCAAG
NC_000023.10:g.(?_53222149)_(53560392_?)dup
NC_012920.1(MT-ATP6):m.8573G>A rs1603221592
NC_012920.1(MT-ATP6):m.8578C>T rs1556423492
NC_012920.1(MT-ATP6):m.8581G>A rs1603221602
NC_012920.1(MT-ATP6):m.8582C>T rs1556423493
NC_012920.1(MT-ATP6):m.8584G>A rs3135028
NC_012920.1(MT-ATP6):m.8588T>C rs1603221606
NC_012920.1(MT-ATP6):m.8602T>C rs1556423501
NC_012920.1(MT-ATP6):m.8603T>C rs1603221627
NC_012920.1(MT-ATP6):m.8616G>T rs41427749
NC_012920.1(MT-ATP6):m.8618T>C rs28358885
NC_012920.1(MT-ATP6):m.8632T>C rs1603221654
NC_012920.1(MT-ATP6):m.8639T>C rs200047468
NC_012920.1(MT-ATP6):m.8642A>G rs1603221663
NC_012920.1(MT-ATP6):m.8653A>G rs1603221669
NC_012920.1(MT-ATP6):m.8654T>C rs200811540
NC_012920.1(MT-ATP6):m.8659A>G rs879150284
NC_012920.1(MT-ATP6):m.8668T>C rs1603221688
NC_012920.1(MT-ATP6):m.8681T>C rs1603221696
NC_012920.1(MT-ATP6):m.8683A>G rs1603221698
NC_012920.1(MT-ATP6):m.8684C>T rs201336180
NC_012920.1(MT-ATP6):m.8701A>G rs2000975
NC_012920.1(MT-ATP6):m.8702C>T rs1603221713
NC_012920.1(MT-ATP6):m.8705T>C rs878959404
NC_012920.1(MT-ATP6):m.8723G>A rs1603221734
NC_012920.1(MT-ATP6):m.8725A>G rs879216744
NC_012920.1(MT-ATP6):m.8752A>G rs1603221770
NC_012920.1(MT-ATP6):m.8756T>C rs1556423532
NC_012920.1(MT-ATP6):m.8762T>C rs1603221778
NC_012920.1(MT-ATP6):m.8764G>A rs1556423534
NC_012920.1(MT-ATP6):m.8768C>T rs386829048
NC_012920.1(MT-ATP6):m.8794C>T rs2298007
NC_012920.1(MT-ATP6):m.8803A>T rs878853020
NC_012920.1(MT-ATP6):m.8812A>G rs1556423543
NC_012920.1(MT-ATP6):m.8836A>G rs1603221835
NC_012920.1(MT-ATP6):m.8839G>A rs1556423547
NC_012920.1(MT-ATP6):m.8842A>G rs386829052
NC_012920.1(MT-ATP6):m.8843T>C rs386829053
NC_012920.1(MT-ATP6):m.8854G>A rs386829055
NC_012920.1(MT-ATP6):m.8857G>A rs201017581
NC_012920.1(MT-ATP6):m.8860A>G rs2001031
NC_012920.1(MT-ATP6):m.8864T>C rs1556423555
NC_012920.1(MT-ATP6):m.8866A>G rs1603221856
NC_012920.1(MT-ATP6):m.8869A>G rs41432347
NC_012920.1(MT-ATP6):m.8870T>C rs1556423560
NC_012920.1(MT-ATP6):m.8875T>C rs201123510
NC_012920.1(MT-ATP6):m.8887A>G rs1556423565
NC_012920.1(MT-ATP6):m.8896G>A rs202120082
NC_012920.1(MT-ATP6):m.8897C>T rs1603221889
NC_012920.1(MT-ATP6):m.8910C>A rs1603221899
NC_012920.1(MT-ATP6):m.8932C>T rs878853013
NC_012920.1(MT-ATP6):m.8938A>G rs1603221923
NC_012920.1(MT-ATP6):m.8950G>A rs1556423574
NC_012920.1(MT-ATP6):m.8962A>G rs1603221945
NC_012920.1(MT-ATP6):m.8978T>C rs1603221954
NC_012920.1(MT-ATP6):m.8998G>A rs376792657
NC_012920.1(MT-ATP6):m.9007A>G rs1603221973
NC_012920.1(MT-ATP6):m.9025G>A rs28681063
NC_012920.1(MT-ATP6):m.9041A>G rs879244322
NC_012920.1(MT-ATP6):m.9052A>G rs1556423597
NC_012920.1(MT-ATP6):m.9053G>A rs199646902
NC_012920.1(MT-ATP6):m.9055G>A rs193303045
NC_012920.1(MT-ATP6):m.9056C>T rs1603222017
NC_012920.1(MT-ATP6):m.9058A>G rs1556423599
NC_012920.1(MT-ATP6):m.9064G>A rs386420013
NC_012920.1(MT-ATP6):m.9067A>G rs1603222028
NC_012920.1(MT-ATP6):m.9070T>G rs879190502
NC_012920.1(MT-ATP6):m.9077T>C rs1603222037
NC_012920.1(MT-ATP6):m.9080A>G rs1556423607
NC_012920.1(MT-ATP6):m.9083T>C rs1603222045
NC_012920.1(MT-ATP6):m.9088T>C rs370460521
NC_012920.1(MT-ATP6):m.9091A>G rs1057520079
NC_012920.1(MT-ATP6):m.9094C>T rs1603222055
NC_012920.1(MT-ATP6):m.9097A>G rs1603222059
NC_012920.1(MT-ATP6):m.9098T>C rs201559119
NC_012920.1(MT-ATP6):m.9098T>G rs201559119
NC_012920.1(MT-ATP6):m.9100A>G rs1603222068
NC_012920.1(MT-ATP6):m.9101T>C rs199476134
NC_012920.1(MT-ATP6):m.9101T>G rs199476134
NC_012920.1(MT-ATP6):m.9103T>C rs1603222077
NC_012920.1(MT-ATP6):m.9110T>C rs1603222087
NC_012920.1(MT-ATP6):m.9115A>G rs1603222091
NC_012920.1(MT-ATP6):m.9116T>C rs376203575
NC_012920.1(MT-ATP6):m.9127A>G rs199732761
NC_012920.1(MT-ATP6):m.9128T>C rs878867946
NC_012920.1(MT-ATP6):m.9137T>C rs1603222121
NC_012920.1(MT-ATP6):m.9139G>A rs879243938
NC_012920.1(MT-ATP6):m.9142G>A rs200660596
NC_012920.1(MT-ATP6):m.9145G>A rs1556423622
NC_012920.1(MT-ATP6):m.9151A>G rs879206297
NC_012920.1(MT-ATP6):m.9163G>A rs2298010
NC_012920.1(MT-ATP6):m.9181A>G rs1556423628
NC_012920.1(MT-ATP6):m.9182G>A rs1556423629
NC_012920.1(MT-ATP6):m.9196G>A rs374870159
NC_012920.1(MT-ATP8):m.8381A>G rs1603221438
NC_012920.1(MT-ATP8):m.8387G>A rs1556423439
NC_012920.1(MT-ATP8):m.8388T>C rs879199176
NC_012920.1(MT-ATP8):m.8393C>T rs1556423442
NC_012920.1(MT-ATP8):m.8396A>G rs1603221454
NC_012920.1(MT-ATP8):m.8400T>C rs1603221459
NC_012920.1(MT-ATP8):m.8406C>T rs1556423448
NC_012920.1(MT-ATP8):m.8414C>T rs28358884
NC_012920.1(MT-ATP8):m.8417C>T rs199616772
NC_012920.1(MT-ATP8):m.8426T>C rs1556423461
NC_012920.1(MT-ATP8):m.8429C>T rs1603221477
NC_012920.1(MT-ATP8):m.8433T>C rs1603221480
NC_012920.1(MT-ATP8):m.8435A>G rs1603221481
NC_012920.1(MT-ATP8):m.8448T>C rs879056797
NC_012920.1(MT-ATP8):m.8454A>G rs1603221488
NC_012920.1(MT-ATP8):m.8460A>G rs1116906
NC_012920.1(MT-ATP8):m.8462T>C rs1603221496
NC_012920.1(MT-ATP8):m.8463A>G rs1603221498
NC_012920.1(MT-ATP8):m.8472C>T rs879209186
NC_012920.1(MT-ATP8):m.8477T>C rs1603221517
NC_012920.1(MT-ATP8):m.8478C>T rs201902227
NC_012920.1(MT-ATP8):m.8490T>C rs1603221530
NC_012920.1(MT-ATP8):m.8496T>C rs1603221534
NC_012920.1(MT-ATP8):m.8502A>G rs879247004
NC_012920.1(MT-ATP8):m.8504T>C rs1603221542
NC_012920.1(MT-ATP8):m.8508A>G rs1603221548
NC_012920.1(MT-ATP8):m.8519G>A rs878853091
NC_012920.1(MT-ATP8):m.8522C>T rs1603221562
NC_012920.1(MT-ATP8):m.8527A>G rs878853003
NC_012920.1(MT-ATP8):m.8537A>G rs1603221571
NC_012920.1(MT-ATP8):m.8541G>A rs1569484218
NC_012920.1(MT-ATP8):m.8542T>C rs1603221575
NC_012920.1(MT-ATP8):m.8545G>A rs1603221578
NC_012920.1(MT-ATP8):m.8548T>C rs1603221580
NC_012920.1(MT-ATP8):m.8552T>C rs1603221582
NC_012920.1(MT-ATP8):m.8557G>A rs386829040
NC_012920.1(MT-ATP8):m.8562C>T rs1603221584
NC_012920.1(MT-ATP8):m.8563A>G rs386829041
NC_012920.1(MT-ATP8):m.8566A>G rs3020563
NC_012920.1(MT-ATP8):m.8567T>C rs1603221586
NC_012920.1(MT-ATP8):m.8572G>A rs28502681
NC_012920.1(MT-CO1):m.5910G>A rs1603220177
NC_012920.1(MT-CO1):m.5911C>T rs879227822
NC_012920.1(MT-CO1):m.5913G>A rs201617272
NC_012920.1(MT-CO1):m.5973G>A rs1556423059
NC_012920.1(MT-CO1):m.5979G>A rs1556423060
NC_012920.1(MT-CO1):m.5985G>A rs386828982
NC_012920.1(MT-CO1):m.6018G>A rs1603220225
NC_012920.1(MT-CO1):m.6040A>G rs1556423072
NC_012920.1(MT-CO1):m.6150G>A rs879053914
NC_012920.1(MT-CO1):m.6228C>T rs1603220332
NC_012920.1(MT-CO1):m.6237C>A rs1603220344
NC_012920.1(MT-CO1):m.6249G>A rs1556423095
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NC_012920.1(MT-CYB):m.515AC[4] rs78907894
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NC_012920.1(MT-ND2):m.5074T>C rs1556422946
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NC_012920.1(MT-ND2):m.5194C>T rs1603219824
NC_012920.1(MT-ND2):m.5206C>T rs1556422963
NC_012920.1(MT-ND2):m.5211C>T rs1603219834
NC_012920.1(MT-ND2):m.5262G>A rs1603219855
NC_012920.1(MT-ND2):m.5263C>T rs41320049
NC_012920.1(MT-ND2):m.5277T>C rs1556422968
NC_012920.1(MT-ND2):m.5301A>G rs199794187
NC_012920.1(MT-ND2):m.5302T>C rs878853115
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NC_012920.1(MT-ND2):m.5493T>C rs1603219983
NC_012920.1(MT-ND3):m.10084T>C rs41487950
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NC_012920.1(MT-ND3):m.10143G>A rs202131419
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NC_012920.1(MT-ND3):m.10324T>C rs1603222776
NC_012920.1(MT-ND3):m.10345T>C rs201397417
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NC_012920.1(MT-ND4):m.10845C>T rs1603222985
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NC_012920.1(MT-ND4):m.11253T>C rs200145866
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NC_012920.1(MT-ND4):m.12030A>G rs1556424041
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NC_012920.1(MT-ND4):m.12083T>G rs1556424049
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NC_012920.1(MT-ND4L):m.10704G>A rs28437034
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NC_012920.1(MT-ND5):m.12338T>C rs201863060
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NC_012920.1(MT-ND5):m.12361A>G rs3134561
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NC_012920.1(MT-ND5):m.12542C>T rs201922401
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NC_012920.1(MT-ND5):m.12634A>G rs1556424136
NC_012920.1(MT-ND5):m.12662A>G (p.Asn109Ser) rs879105366
NC_012920.1(MT-ND5):m.12715A>G (p.Thr127Ala) rs1603223875
NC_012920.1(MT-ND5):m.12757T>C rs1603223892
NC_012920.1(MT-ND5):m.12811T>C rs199974018
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NC_012920.1(MT-TK):m.8308A>G rs879081228
NC_012920.1(MT-TK):m.8311T>C rs371589230
NC_012920.1(MT-TK):m.8337T>C rs1603221405
NC_012920.1(MT-TK):m.8343A>G rs1603221411
NC_012920.1(MT-TK):m.8345C>T rs1603221413
NC_012920.1(MT-TK):m.8347A>G rs1603221417
NC_012920.1(MT-TK):m.8348A>G rs1556423430
NC_012920.1(MT-TK):m.8349C>T rs1603221418
NC_012920.1(MT-TK):m.8360A>G rs1603221422
NC_012920.1(MT-TL1):m.3236A>G rs1603218849
NC_012920.1(MT-TL1):m.3254C>A rs1603218855
NC_012920.1(MT-TL1):m.3275C>T rs1057516057
NC_012920.1(MT-TL1):m.3277G>A rs386828902
NC_012920.1(MT-TL1):m.3278T>C rs1603218868
NC_012920.1(MT-TL1):m.3290T>C rs199474665
NC_012920.1(MT-TL2):m.12279A>G rs1603223647
NC_012920.1(MT-TL2):m.12280A>G rs1603223649
NC_012920.1(MT-TL2):m.12281C>T rs1603223651
NC_012920.1(MT-TL2):m.12285T>C rs386419957
NC_012920.1(MT-TL2):m.12295T>C rs1603223656
NC_012920.1(MT-TL2):m.12297T>C rs121434464
NC_012920.1(MT-TL2):m.12308A>G rs2853498
NC_012920.1(MT-TL2):m.12310dup rs1603223659
NC_012920.1(MT-TL2):m.12311T>C rs201754056
NC_012920.1(MT-TM):m.4418T>C rs1556422856
NC_012920.1(MT-TM):m.4435A>G rs878930498
NC_012920.1(MT-TM):m.4452T>C rs377043134
NC_012920.1(MT-TM):m.4454T>A rs11510098
NC_012920.1(MT-TM):m.4454T>C rs11510098
NC_012920.1(MT-TM):m.4464G>A rs1603219466
NC_012920.1(MT-TN):m.5663C>T rs1553139251
NC_012920.1(MT-TN):m.5664A>G rs1603220079
NC_012920.1(MT-TN):m.5665A>G rs1603220080
NC_012920.1(MT-TN):m.5673T>C rs386828975
NC_012920.1(MT-TN):m.5686A>T rs1603220088
NC_012920.1(MT-TN):m.5711A>G rs2854138
NC_012920.1(MT-TN):m.5715A>G rs1603220096
NC_012920.1(MT-TP):m.15965A>G rs199474700
NC_012920.1(MT-TP):m.15968T>C rs1603225617
NC_012920.1(MT-TP):m.15970T>C rs375213730
NC_012920.1(MT-TP):m.15977C>T rs1556424716
NC_012920.1(MT-TP):m.15978C>T rs201041059
NC_012920.1(MT-TP):m.16017T>C rs201864830
NC_012920.1(MT-TQ):m.4335C>T rs878959563
NC_012920.1(MT-TQ):m.4336T>C rs41456348
NC_012920.1(MT-TQ):m.4340A>G rs1603219416
NC_012920.1(MT-TQ):m.4343A>G rs386828939
NC_012920.1(MT-TQ):m.4350C>T rs1603219418
NC_012920.1(MT-TQ):m.4353T>C rs1603219419
NC_012920.1(MT-TQ):m.4363T>C rs200009705
NC_012920.1(MT-TQ):m.4370T>C rs1603219427
NC_012920.1(MT-TQ):m.4371T>C rs1603219428
NC_012920.1(MT-TQ):m.4373T>C rs1603219432
NC_012920.1(MT-TQ):m.4381A>G rs1603219434
NC_012920.1(MT-TQ):m.4384T>C rs1603219436
NC_012920.1(MT-TQ):m.4385A>T rs386828941
NC_012920.1(MT-TQ):m.4386T>C rs1569483940
NC_012920.1(MT-TQ):m.4388A>G rs375986475
NC_012920.1(MT-TQ):m.4394C>A rs1603219441
NC_012920.1(MT-TQ):m.4395A>G rs1603219443
NC_012920.1(MT-TR):m.10410T>C rs200478835
NC_012920.1(MT-TR):m.10411A>G rs1603222828
NC_012920.1(MT-TR):m.10420A>G rs1603222829
NC_012920.1(MT-TR):m.10427G>A rs1556423809
NC_012920.1(MT-TR):m.10440T>C rs1603222833
NC_012920.1(MT-TR):m.10454T>C rs878874133
NC_012920.1(MT-TR):m.10455A>G rs1603222840
NC_012920.1(MT-TR):m.10463T>C rs28358279
NC_012920.1(MT-TS1):m.7468C>T rs111033173
NC_012920.1(MT-TS1):m.7469C>T rs1603220974
NC_012920.1(MT-TS1):m.7471C>T rs397515726
NC_012920.1(MT-TS1):m.7471del rs111033319
NC_012920.1(MT-TS1):m.7472A>T rs1556423293
NC_012920.1(MT-TS1):m.7476C>T rs201950015
NC_012920.1(MT-TS1):m.7490A>G rs1603220984
NC_012920.1(MT-TS1):m.7493C>T rs397515728
NC_012920.1(MT-TS1):m.7498G>A rs111033324
NC_012920.1(MT-TS1):m.7501T>C rs1556423303
NC_012920.1(MT-TS2):m.12215T>C rs1603223617
NC_012920.1(MT-TS2):m.12216C>T rs1603223618
NC_012920.1(MT-TS2):m.12217A>G rs1556424082
NC_012920.1(MT-TS2):m.12223A>G rs1603223624
NC_012920.1(MT-TS2):m.12234A>G rs1603223628
NC_012920.1(MT-TS2):m.12235T>C rs1556424083
NC_012920.1(MT-TS2):m.12236G>A rs28359170
NC_012920.1(MT-TS2):m.12237C>T rs1603223632
NC_012920.1(MT-TS2):m.12239C>T rs376062400
NC_012920.1(MT-TS2):m.12241del rs1603223633
NC_012920.1(MT-TS2):m.12245T>C rs1603223634
NC_012920.1(MT-TS2):m.12246C>T rs28508189
NC_012920.1(MT-TS2):m.12248A>G rs202114991
NC_012920.1(MT-TT):m.15889T>C rs199833246
NC_012920.1(MT-TT):m.15891C>T rs1556424681
NC_012920.1(MT-TT):m.15892T>C rs1556424683
NC_012920.1(MT-TT):m.15894G>A rs1569484752
NC_012920.1(MT-TT):m.15900T>C rs878927456
NC_012920.1(MT-TT):m.15902A>G rs1556424685
NC_012920.1(MT-TT):m.15903A>G rs1603225580
NC_012920.1(MT-TT):m.15904C>T rs35788393
NC_012920.1(MT-TT):m.15905T>C rs879126276
NC_012920.1(MT-TT):m.15907A>G rs41383248
NC_012920.1(MT-TT):m.15908T>C rs386829266
NC_012920.1(MT-TT):m.15913C>T rs1603225584
NC_012920.1(MT-TT):m.15914A>G rs1603225587
NC_012920.1(MT-TT):m.15916T>C rs1603225591
NC_012920.1(MT-TT):m.15924A>G rs193303001
NC_012920.1(MT-TT):m.15926C>T rs1603225597
NC_012920.1(MT-TT):m.15927G>A rs193303002
NC_012920.1(MT-TT):m.15928G>A rs527236198
NC_012920.1(MT-TT):m.15929A>G rs878866272
NC_012920.1(MT-TT):m.15930G>A rs41441949
NC_012920.1(MT-TT):m.15932T>C rs527236199
NC_012920.1(MT-TT):m.15935A>G rs1556424699
NC_012920.1(MT-TT):m.15936A>T rs1556424701
NC_012920.1(MT-TT):m.15937A>G rs1603225605
NC_012920.1(MT-TT):m.15938C>T rs200572753
NC_012920.1(MT-TT):m.15939C>T rs878981265
NC_012920.1(MT-TT):m.15940T>C rs879197567
NC_012920.1(MT-TT):m.15941T>C rs193303003
NC_012920.1(MT-TT):m.15942T>C rs28535186
NC_012920.1(MT-TT):m.15943T>C rs527236200
NC_012920.1(MT-TT):m.15944del rs1603225607
NC_012920.1(MT-TT):m.15944dup rs1603225607
NC_012920.1(MT-TT):m.15946C>T rs202014122
NC_012920.1(MT-TT):m.15947A>G rs1556424708
NC_012920.1(MT-TT):m.15949G>A rs1603225611
NC_012920.1(MT-TT):m.15951A>G rs199993959
NC_012920.1(MT-TW):m.5514A>G rs1603219997
NC_012920.1(MT-TW):m.5515A>G rs1603220000
NC_012920.1(MT-TW):m.5527A>G rs1603220005
NC_012920.1(MT-TW):m.5528T>C rs1556423004
NC_012920.1(MT-TW):m.5530C>T rs1603220009
NC_012920.1(MT-TW):m.5539A>G rs1603220013
NC_012920.1(MT-TW):m.5553T>C rs878853053
NC_012920.1(MT-TW):m.5554C>A rs1603220020
NC_012920.1(MT-TW):m.5557T>C rs1603220022
NC_012920.1(MT-TW):m.5558A>G rs370471013
NC_012920.1(MT-TW):m.5563G>A rs1603220027
NC_012920.1(MT-TW):m.5567T>C rs1603220030
NC_012920.1(MT-TW):m.5568A>G rs200719361
NC_012920.1(MT-TY):m.5836A>G rs386828979
NC_012920.1(MT-TY):m.5839C>T rs1603220148
NC_012920.1(MT-TY):m.5843A>G rs118203894
NC_012920.1(MT-TY):m.5846C>T rs1603220152
NC_012920.1:m.4769A>G rs3021086
NG_052984.1:g.5128= rs5855672
NM_000020.3(ACVRL1):c.*1042C>G rs56683171
NM_000020.3(ACVRL1):c.*1042C>T rs56683171
NM_000020.3(ACVRL1):c.1377+248_1377+251dup rs200979126
NM_000020.3(ACVRL1):c.1377+249TG[18] rs55945390
NM_000020.3(ACVRL1):c.1377+249TG[23] rs55945390
NM_000020.3(ACVRL1):c.1377+745G>A
NM_000020.3(ACVRL1):c.1378-248del rs202089535
NM_000020.3(ACVRL1):c.1378-49C>T
NM_000020.3(ACVRL1):c.1378-595_1378-594insAGTTGATGAGCTTCCTGGGATG rs1344683257
NM_000020.3(ACVRL1):c.1378-625CCTGGGATGGGTTGATGAGCTT[3]
NM_000020.3(ACVRL1):c.314-13C>T
NM_000020.3(ACVRL1):c.314-49G>C rs200624173
NM_000020.3(ACVRL1):c.62-18T>A
NM_000020.3(ACVRL1):c.625+110_625+121del rs1592223149
NM_000020.3(ACVRL1):c.625+110_625+130del rs67833112
NM_000027.4(AGA):c.34G>T (p.Val12Leu) rs74626221
NM_000027.4(AGA):c.394+10dup rs761207366
NM_000027.4(AGA):c.395-12del
NM_000027.4(AGA):c.623-10del rs745896951
NM_000027.4(AGA):c.623-11_623-10del
NM_000027.4(AGA):c.623-21dup rs745896951
NM_000027.4(AGA):c.806+13_806+16del rs369977700
NM_000036.3(AMPD1):c.1806C>T (p.Pro602=) rs148515775
NM_000036.3(AMPD1):c.1842C>T (p.Pro614=)
NM_000036.3(AMPD1):c.224G>A (p.Arg75His) rs61738827
NM_000036.3(AMPD1):c.309T>A (p.Ile103=) rs398123115
NM_000036.3(AMPD1):c.382-6del rs727503806
NM_000036.3(AMPD1):c.382-6dup rs727503806
NM_000036.3(AMPD1):c.382-7_382-6dup
NM_000036.3(AMPD1):c.5del (p.Pro2fs) rs557878856
NM_000036.3(AMPD1):c.768-11A>G
NM_000044.6(AR):c.1014A>C (p.Thr338=)
NM_000044.6(AR):c.1062C>G (p.Asp354Glu)
NM_000044.6(AR):c.1149C>T (p.Pro383=)
NM_000044.6(AR):c.1157G>A (p.Arg386His)
NM_000044.6(AR):c.1186G>C (p.Gly396Arg)
NM_000044.6(AR):c.1194C>T (p.Ala398=)
NM_000044.6(AR):c.1235C>A (p.Ala412Glu)
NM_000044.6(AR):c.1243C>T (p.His415Tyr)
NM_000044.6(AR):c.1323C>G (p.Ala441=)
NM_000044.6(AR):c.1365TGG[3] (p.Gly473_Glu474insGly)
NM_000044.6(AR):c.1370GCG[10] (p.Gly467_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[11] (p.Gly468_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[13] (p.Gly470_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[14] (p.Gly471_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[18] (p.Gly473dup) rs746853821
NM_000044.6(AR):c.1370GCG[8] (p.Gly465_Gly473del) rs746853821
NM_000044.6(AR):c.1370GCG[9] (p.Gly466_Gly473del) rs746853821
NM_000044.6(AR):c.1370_1371insAGG (p.Gly473_Glu474insGly)
NM_000044.6(AR):c.1370_1371insTGGCGGCGG (p.Gly471_Gly473dup) rs760580125
NM_000044.6(AR):c.1370_1371insTGGCGGCGGCGG (p.Gly470_Gly473dup) rs760580125
NM_000044.6(AR):c.1443C>T (p.Tyr481=)
NM_000044.6(AR):c.1479G>A (p.Gln493=)
NM_000044.6(AR):c.1484G>A (p.Ser495Asn)
NM_000044.6(AR):c.1542T>C (p.Tyr514=)
NM_000044.6(AR):c.1617-13dup
NM_000044.6(AR):c.1617-19G>T
NM_000044.6(AR):c.1656T>C (p.Tyr552=)
NM_000044.6(AR):c.1675A>T (p.Thr559Ser)
NM_000044.6(AR):c.170AGC[7] (p.Leu56_Leu57insGlnGlnGlnGlnGlnGlnGln)
NM_000044.6(AR):c.1719A>G (p.Gly573=)
NM_000044.6(AR):c.171GCA[11] (p.Gln69_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[13] (p.Gln71_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[15] (p.Gln73_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[16] (p.Gln74_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[17] (p.Gln75_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[18] (p.Gln76_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[19] (p.Gln77_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[20] (p.Gln78_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[21] (p.Gln79_Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[22] (p.Gln80del) rs3032358
NM_000044.6(AR):c.171GCA[24] (p.Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[25] (p.Gln79_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[27] (p.Gln77_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[28] (p.Gln76_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[30] (p.Gln74_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[31] (p.Gln73_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[32] (p.Gln72_Gln80dup) rs3032358
NM_000044.6(AR):c.171GCA[33] (p.Gln71_Gln80dup) rs3032358
NM_000044.6(AR):c.1737C>T (p.Ser579=)
NM_000044.6(AR):c.1761C>T (p.Ala587=)
NM_000044.6(AR):c.1815T>C (p.Asp605=)
NM_000044.6(AR):c.1854G>A (p.Arg618=)
NM_000044.6(AR):c.1885+13T>C
NM_000044.6(AR):c.1886-10T>C
NM_000044.6(AR):c.1926G>A (p.Glu642=)
NM_000044.6(AR):c.2016C>A (p.Pro672=)
NM_000044.6(AR):c.2017A>G (p.Ile673Val)
NM_000044.6(AR):c.2052T>C (p.Gly684=)
NM_000044.6(AR):c.2070C>T (p.His690=)
NM_000044.6(AR):c.2073C>T (p.Asp691=)
NM_000044.6(AR):c.2085C>T (p.Pro695=)
NM_000044.6(AR):c.2106C>T (p.Leu702=)
NM_000044.6(AR):c.2179C>T (p.Arg727Cys)
NM_000044.6(AR):c.2190C>T (p.His730=)
NM_000044.6(AR):c.2196C>T (p.Asp732=)
NM_000044.6(AR):c.2295C>T (p.Phe765=)
NM_000044.6(AR):c.2318+7G>T
NM_000044.6(AR):c.2319-10T>C
NM_000044.6(AR):c.2319-17G>A
NM_000044.6(AR):c.2319-9C>T
NM_000044.6(AR):c.2403C>T (p.Thr801=)
NM_000044.6(AR):c.2406C>A (p.Pro802=)
NM_000044.6(AR):c.2481C>A (p.Phe827Leu)
NM_000044.6(AR):c.2526C>T (p.Ile842=)
NM_000044.6(AR):c.2580C>A (p.Leu860=)
NM_000044.6(AR):c.2607+10C>T
NM_000044.6(AR):c.2607+12A>G
NM_000044.6(AR):c.2608-17C>T
NM_000044.6(AR):c.2608-17_2608-16del rs749355366
NM_000044.6(AR):c.2608-6C>T
NM_000044.6(AR):c.2613G>A (p.Ala871=)
NM_000044.6(AR):c.2679G>A (p.Pro893=)
NM_000044.6(AR):c.270G>T (p.Gln90His)
NM_000044.6(AR):c.302G>A (p.Arg101His)
NM_000044.6(AR):c.39G>A (p.Arg13=)
NM_000044.6(AR):c.414C>G (p.Ala138=)
NM_000044.6(AR):c.458C>T (p.Pro153Leu)
NM_000044.6(AR):c.45G>A (p.Pro15=)
NM_000044.6(AR):c.462C>T (p.Asp154=)
NM_000044.6(AR):c.519C>G (p.Gly173=)
NM_000044.6(AR):c.609C>A (p.Ser203=)
NM_000044.6(AR):c.621C>G (p.Ser207Arg)
NM_000044.6(AR):c.646G>A (p.Gly216Arg) rs199554641
NM_000044.6(AR):c.654C>T (p.Pro218=) rs751027309
NM_000044.6(AR):c.747G>A (p.Leu249=)
NM_000044.6(AR):c.807C>T (p.Tyr269=)
NM_000044.6(AR):c.986G>T (p.Gly329Val)
NM_000044.6:c.1363GGT[2_4]GGC[12_29]
NM_000046.4(ARSB):c.-322dup rs11424557
NM_000046.5(ARSB):c.*2975G>T rs3088247
NM_000046.5(ARSB):c.1081G>T (p.Ala361Ser)
NM_000046.5(ARSB):c.113_121del (p.Gly38_Gly40del) rs550086186
NM_000046.5(ARSB):c.1337-15del
NM_000046.5(ARSB):c.312+15del
NM_000046.5(ARSB):c.690+9del rs2112513488
NM_000047.3(ARSL):c.-14GA[3] rs200332753
NM_000047.3(ARSL):c.1127-141GA[10] rs34095951
NM_000047.3(ARSL):c.992-219C>G rs211643
NM_000052.7(ATP7A):c.125C>T (p.Ser42Leu)
NM_000052.7(ATP7A):c.1350G>A (p.Pro450=)
NM_000052.7(ATP7A):c.1368G>T (p.Gln456His)
NM_000052.7(ATP7A):c.1463C>T (p.Ser488Phe)
NM_000052.7(ATP7A):c.1707+16del
NM_000052.7(ATP7A):c.1735G>A (p.Val579Ile) rs372116692
NM_000052.7(ATP7A):c.1735G>C (p.Val579Leu)
NM_000052.7(ATP7A):c.1770A>G (p.Arg590=)
NM_000052.7(ATP7A):c.1890T>C (p.Ser630=)
NM_000052.7(ATP7A):c.1931A>G (p.Lys644Arg) rs781900997
NM_000052.7(ATP7A):c.2172+8_2172+12dup rs782170618
NM_000052.7(ATP7A):c.2173-15A>G
NM_000052.7(ATP7A):c.220G>C (p.Val74Leu)
NM_000052.7(ATP7A):c.2305A>G (p.Met769Val)
NM_000052.7(ATP7A):c.235G>A (p.Asp79Asn)
NM_000052.7(ATP7A):c.2406+20C>T
NM_000052.7(ATP7A):c.2407-10del
NM_000052.7(ATP7A):c.2465T>C (p.Ile822Thr) rs782768766
NM_000052.7(ATP7A):c.2658C>T (p.Gly886=)
NM_000052.7(ATP7A):c.2782-17_2782-15del
NM_000052.7(ATP7A):c.3112-5dup rs1569550186
NM_000052.7(ATP7A):c.3116A>G (p.Lys1039Arg)
NM_000052.7(ATP7A):c.3294+12dup rs1223290704
NM_000052.7(ATP7A):c.3358A>C (p.Ser1120Arg)
NM_000052.7(ATP7A):c.3423T>A (p.Asn1141Lys)
NM_000052.7(ATP7A):c.346A>G (p.Ile116Val)
NM_000052.7(ATP7A):c.373G>T (p.Val125Leu) rs782688596
NM_000052.7(ATP7A):c.379G>A (p.Val127Met)
NM_000052.7(ATP7A):c.3801+13G>T
NM_000052.7(ATP7A):c.3802-12T>C
NM_000052.7(ATP7A):c.3873G>A (p.Glu1291=)
NM_000052.7(ATP7A):c.3883C>A (p.Arg1295=) rs372489000
NM_000052.7(ATP7A):c.4005+12G>A
NM_000052.7(ATP7A):c.4011T>C (p.Asp1337=)
NM_000052.7(ATP7A):c.4048= (p.Lys1350=) rs4826245
NM_000052.7(ATP7A):c.4048A>G (p.Lys1350Glu)
NM_000052.7(ATP7A):c.4089A>G (p.Leu1363=)
NM_000052.7(ATP7A):c.4240A>C (p.Thr1414Pro)
NM_000052.7(ATP7A):c.4241C>T (p.Thr1414Ile)
NM_000052.7(ATP7A):c.4267C>A (p.Arg1423=) rs149079962
NM_000052.7(ATP7A):c.4401A>G (p.Leu1467=)
NM_000052.7(ATP7A):c.4440T>C (p.Ser1480=)
NM_000052.7(ATP7A):c.561C>T (p.Ser187=)
NM_000052.7(ATP7A):c.657T>G (p.Leu219=)
NM_000052.7(ATP7A):c.761G>A (p.Arg254His)
NM_000052.7(ATP7A):c.783A>G (p.Lys261=)
NM_000052.7(ATP7A):c.885T>C (p.Ile295=)
NM_000057.4(BLM):c.1216A>G (p.Ile406Val) rs769498398
NM_000057.4(BLM):c.1220+18del
NM_000057.4(BLM):c.1221-11del
NM_000057.4(BLM):c.2074+12dup
NM_000057.4(BLM):c.2216G>A (p.Gly739Asp)
NM_000057.4(BLM):c.2307+23del
NM_000057.4(BLM):c.2406+16del
NM_000057.4(BLM):c.2406+16dup rs769233210
NM_000057.4(BLM):c.2407-7del rs769184675
NM_000057.4(BLM):c.2407-9del rs747699258
NM_000057.4(BLM):c.2407-9dup rs747699258
NM_000057.4(BLM):c.2556-130C>T rs28385056
NM_000057.4(BLM):c.2603_2605delinsTAG (p.Pro868_Lys869delinsLeuGlu)
NM_000057.4(BLM):c.2603_2614delinsTAGAAAAGACT (p.Pro868fs)
NM_000057.4(BLM):c.3013A>G (p.Ile1005Val) rs201829983
NM_000057.4(BLM):c.3020-3del rs1596259793
NM_000057.4(BLM):c.3210+9del
NM_000057.4(BLM):c.3210+9dup rs1233313033
NM_000057.4(BLM):c.3752-15del
NM_000057.4(BLM):c.4077-59_4077-57dup rs10685387
NM_000057.4(BLM):c.455A>G (p.Asn152Ser) rs749633106
NM_000057.4(BLM):c.799+7A>G rs1596219393
NM_000057.4(BLM):c.800-120T>C rs7183841
NM_000057.4(BLM):c.960-9del
NM_000057.4(BLM):c.98+11del rs2151145130
NM_000059.4(BRCA2):c.*839del rs75353978
NM_000059.4(BRCA2):c.6513G>C (p.Val2171=) rs206076
NM_000059.4(BRCA2):c.7242A>G (p.Ser2414=) rs1799955
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGAGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGCCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
NM_000071.3(CBS):c.*10C>A rs9978104
NM_000071.3(CBS):c.*681A>G rs111413325
NM_000071.3(CBS):c.1358+15C>G rs186497436
NM_000071.3(CBS):c.1359-10del
NM_000071.3(CBS):c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCACTGGGGTGGATC (p.Pro282delinsHisProGlyGlyAlaPheAlaGlyLeuGluProTer) rs2146367577
NM_000071.3(CBS):c.844_845insATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCATTGGAGTGGATC (p.Pro282delinsHisProGlyGlyAlaPheAlaGlyLeuGluProTer) rs2146367555
NM_000075.4(CDK4):c.*10T>A
NM_000075.4(CDK4):c.*2C>A
NM_000075.4(CDK4):c.*6G>A
NM_000075.4(CDK4):c.*9G>A
NM_000075.4(CDK4):c.102C>A (p.Leu34=)
NM_000075.4(CDK4):c.108T>C (p.Ser36=)
NM_000075.4(CDK4):c.111G>A (p.Val37=) rs1456215691
NM_000075.4(CDK4):c.117C>A (p.Val39=) rs1595111112
NM_000075.4(CDK4):c.117C>T (p.Val39=) rs1595111112
NM_000075.4(CDK4):c.123T>C (p.Asn41=)
NM_000075.4(CDK4):c.126A>C (p.Gly42=)
NM_000075.4(CDK4):c.126A>G (p.Gly42=)
NM_000075.4(CDK4):c.12T>C (p.Ser4=) rs1595111261
NM_000075.4(CDK4):c.132A>T (p.Gly44=) rs878853621
NM_000075.4(CDK4):c.135T>C (p.Gly45=)
NM_000075.4(CDK4):c.13C>A (p.Arg5=)
NM_000075.4(CDK4):c.144C>A (p.Gly48=)
NM_000075.4(CDK4):c.144C>T (p.Gly48=)
NM_000075.4(CDK4):c.147T>C (p.Leu49=) rs1060504383
NM_000075.4(CDK4):c.147T>G (p.Leu49=)
NM_000075.4(CDK4):c.153C>T (p.Ile51=) rs1555201373
NM_000075.4(CDK4):c.159A>G (p.Thr53=)
NM_000075.4(CDK4):c.15A>C (p.Arg5=)
NM_000075.4(CDK4):c.165T>G (p.Arg55=) rs1595111002
NM_000075.4(CDK4):c.171G>A (p.Val57=)
NM_000075.4(CDK4):c.177A>G (p.Leu59=)
NM_000075.4(CDK4):c.180G>A (p.Leu60=) rs1555201367
NM_000075.4(CDK4):c.186A>C (p.Arg62=)
NM_000075.4(CDK4):c.189G>A (p.Leu63=) rs2140388192
NM_000075.4(CDK4):c.198T>C (p.Phe66=) rs1595110954
NM_000075.4(CDK4):c.207C>T (p.Pro69=)
NM_000075.4(CDK4):c.216C>A (p.Val72=) rs1294424179
NM_000075.4(CDK4):c.220C>T (p.Leu74=)
NM_000075.4(CDK4):c.222G>T (p.Leu74=) rs565645344
NM_000075.4(CDK4):c.246A>C (p.Arg82=) rs2140387517
NM_000075.4(CDK4):c.249T>C (p.Thr83=)
NM_000075.4(CDK4):c.24A>G (p.Pro8=)
NM_000075.4(CDK4):c.255G>A (p.Arg85=)
NM_000075.4(CDK4):c.255G>C (p.Arg85=)
NM_000075.4(CDK4):c.258G>A (p.Glu86=) rs1247612368
NM_000075.4(CDK4):c.261C>A (p.Ile87=) rs779482890
NM_000075.4(CDK4):c.261C>T (p.Ile87=) rs779482890
NM_000075.4(CDK4):c.264G>A (p.Lys88=) rs2140387452
NM_000075.4(CDK4):c.267A>G (p.Val89=) rs886049715
NM_000075.4(CDK4):c.270C>A (p.Thr90=)
NM_000075.4(CDK4):c.271C>T (p.Leu91=) rs949558438
NM_000075.4(CDK4):c.276G>A (p.Val92=) rs918094121
NM_000075.4(CDK4):c.276G>T (p.Val92=)
NM_000075.4(CDK4):c.282G>A (p.Glu94=)
NM_000075.4(CDK4):c.285T>C (p.His95=) rs757492324
NM_000075.4(CDK4):c.298C>T (p.Leu100=)
NM_000075.4(CDK4):c.300A>G (p.Leu100=) rs2140387344
NM_000075.4(CDK4):c.303G>A (p.Arg101=)
NM_000075.4(CDK4):c.306A>C (p.Thr102=) rs201202764
NM_000075.4(CDK4):c.312G>A (p.Leu104=) rs2140387313
NM_000075.4(CDK4):c.324C>G (p.Pro108=) rs774075369
NM_000075.4(CDK4):c.333C>A (p.Gly111=) rs1595110689
NM_000075.4(CDK4):c.334T>C (p.Leu112=) rs1555201318
NM_000075.4(CDK4):c.342C>G (p.Ala114=) rs762471901
NM_000075.4(CDK4):c.342C>T (p.Ala114=) rs762471901
NM_000075.4(CDK4):c.348G>T (p.Thr116=)
NM_000075.4(CDK4):c.351C>A (p.Ile117=)
NM_000075.4(CDK4):c.351C>T (p.Ile117=)
NM_000075.4(CDK4):c.355-12del
NM_000075.4(CDK4):c.366C>A (p.Arg122=)
NM_000075.4(CDK4):c.373C>T (p.Leu125=)
NM_000075.4(CDK4):c.375A>G (p.Leu125=) rs2640603
NM_000075.4(CDK4):c.378A>G (p.Arg126=)
NM_000075.4(CDK4):c.381C>T (p.Gly127=) rs781207390
NM_000075.4(CDK4):c.382C>T (p.Leu128=)
NM_000075.4(CDK4):c.390C>T (p.Phe130=)
NM_000075.4(CDK4):c.393T>A (p.Leu131=)
NM_000075.4(CDK4):c.405C>T (p.Cys135=)
NM_000075.4(CDK4):c.408C>T (p.Ile136=) rs758331285
NM_000075.4(CDK4):c.420T>C (p.Asp140=) rs863224321
NM_000075.4(CDK4):c.423G>A (p.Leu141=) rs760242081
NM_000075.4(CDK4):c.42C>G (p.Val14=)
NM_000075.4(CDK4):c.42C>T (p.Val14=) rs786203182
NM_000075.4(CDK4):c.444G>A (p.Val148=) rs1595110484
NM_000075.4(CDK4):c.444G>T (p.Val148=) rs1595110484
NM_000075.4(CDK4):c.453T>C (p.Gly151=) rs2140386487
NM_000075.4(CDK4):c.462C>G (p.Val154=) rs1190412756
NM_000075.4(CDK4):c.466C>T (p.Leu156=)
NM_000075.4(CDK4):c.468G>A (p.Leu156=)
NM_000075.4(CDK4):c.483G>A (p.Leu161=)
NM_000075.4(CDK4):c.48C>G (p.Ala16=) rs1311074831
NM_000075.4(CDK4):c.48C>T (p.Ala16=)
NM_000075.4(CDK4):c.492C>T (p.Ile164=)
NM_000075.4(CDK4):c.498C>T (p.Ser166=)
NM_000075.4(CDK4):c.513T>C (p.Leu171=) rs748319770
NM_000075.4(CDK4):c.519C>A (p.Pro173=)
NM_000075.4(CDK4):c.528T>C (p.Val176=)
NM_000075.4(CDK4):c.531A>G (p.Thr177=) rs2140385880
NM_000075.4(CDK4):c.534C>G (p.Leu178=) rs11547327
NM_000075.4(CDK4):c.540C>T (p.Tyr180=)
NM_000075.4(CDK4):c.549C>G (p.Pro183=) rs778696237
NM_000075.4(CDK4):c.54G>A (p.Gly18=)
NM_000075.4(CDK4):c.54G>C (p.Gly18=)
NM_000075.4(CDK4):c.54G>T (p.Gly18=)
NM_000075.4(CDK4):c.555T>A (p.Val185=)
NM_000075.4(CDK4):c.561G>T (p.Leu187=) rs864622342
NM_000075.4(CDK4):c.564G>A (p.Gln188=) rs1057521685
NM_000075.4(CDK4):c.567C>T (p.Ser189=) rs144422354
NM_000075.4(CDK4):c.570A>C (p.Thr190=) rs1428628208
NM_000075.4(CDK4):c.570A>G (p.Thr190=)
NM_000075.4(CDK4):c.570A>T (p.Thr190=)
NM_000075.4(CDK4):c.573T>C (p.Tyr191=) rs878853623
NM_000075.4(CDK4):c.588C>T (p.Asp196=) rs2140385708
NM_000075.4(CDK4):c.600T>C (p.Val200=)
NM_000075.4(CDK4):c.603C>G (p.Gly201=) rs2140385667
NM_000075.4(CDK4):c.603C>T (p.Gly201=)
NM_000075.4(CDK4):c.606T>C (p.Cys202=)
NM_000075.4(CDK4):c.609C>A (p.Ile203=) rs864622504
NM_000075.4(CDK4):c.612T>C (p.Phe204=) rs1555201266
NM_000075.4(CDK4):c.630A>C (p.Arg210=) rs1012477745
NM_000075.4(CDK4):c.630A>G (p.Arg210=) rs1012477745
NM_000075.4(CDK4):c.633-8C>T rs536249985
NM_000075.4(CDK4):c.636T>A (p.Pro212=)
NM_000075.4(CDK4):c.639C>A (p.Leu213=) rs2140383965
NM_000075.4(CDK4):c.639C>G (p.Leu213=)
NM_000075.4(CDK4):c.639C>T (p.Leu213=) rs2140383965
NM_000075.4(CDK4):c.63C>T (p.Tyr21=)
NM_000075.4(CDK4):c.648A>C (p.Gly216=) rs2140383924
NM_000075.4(CDK4):c.651C>T (p.Asn217=) rs876659462
NM_000075.4(CDK4):c.666G>A (p.Gln222=) rs1324120646
NM_000075.4(CDK4):c.667T>C (p.Leu223=) rs2140383860
NM_000075.4(CDK4):c.669G>A (p.Leu223=)
NM_000075.4(CDK4):c.672C>A (p.Gly224=)
NM_000075.4(CDK4):c.684-20_684-19del
NM_000075.4(CDK4):c.690T>A (p.Ile230=)
NM_000075.4(CDK4):c.690T>C (p.Ile230=) rs886049714
NM_000075.4(CDK4):c.693G>C (p.Gly231=)
NM_000075.4(CDK4):c.69C>T (p.Ala23=)
NM_000075.4(CDK4):c.705G>A (p.Glu235=) rs374223296
NM_000075.4(CDK4):c.718C>A (p.Arg240=) rs786203856
NM_000075.4(CDK4):c.726A>T (p.Val242=)
NM_000075.4(CDK4):c.729C>T (p.Ser243=)
NM_000075.4(CDK4):c.730C>T (p.Leu244=) rs2140382971
NM_000075.4(CDK4):c.741A>G (p.Gly247=) rs1595108773
NM_000075.4(CDK4):c.744C>G (p.Ala248=) rs1595108768
NM_000075.4(CDK4):c.744C>T (p.Ala248=) rs1595108768
NM_000075.4(CDK4):c.747T>C (p.Phe249=) rs886049713
NM_000075.4(CDK4):c.753C>A (p.Pro251=) rs757333818
NM_000075.4(CDK4):c.753C>T (p.Pro251=) rs757333818
NM_000075.4(CDK4):c.759G>A (p.Gly253=)
NM_000075.4(CDK4):c.759G>C (p.Gly253=)
NM_000075.4(CDK4):c.75T>C (p.Asp25=)
NM_000075.4(CDK4):c.762C>T (p.Pro254=) rs753908111
NM_000075.4(CDK4):c.765C>G (p.Arg255=)
NM_000075.4(CDK4):c.768A>G (p.Pro256=)
NM_000075.4(CDK4):c.777G>C (p.Ser259=) rs3211622
NM_000075.4(CDK4):c.780G>A (p.Val260=) rs1955200396
NM_000075.4(CDK4):c.780G>T (p.Val260=)
NM_000075.4(CDK4):c.783A>T (p.Val261=)
NM_000075.4(CDK4):c.786T>C (p.Pro262=)
NM_000075.4(CDK4):c.786T>G (p.Pro262=)
NM_000075.4(CDK4):c.78C>T (p.Pro26=) rs1057523487
NM_000075.4(CDK4):c.801G>C (p.Ser267=) rs201744062
NM_000075.4(CDK4):c.807A>G (p.Ala269=)
NM_000075.4(CDK4):c.811C>T (p.Leu271=)
NM_000075.4(CDK4):c.816G>A (p.Leu272=)
NM_000075.4(CDK4):c.81C>T (p.His27=)
NM_000075.4(CDK4):c.820-5del rs1555201035
NM_000075.4(CDK4):c.822A>G (p.Glu274=)
NM_000075.4(CDK4):c.831T>C (p.Thr277=)
NM_000075.4(CDK4):c.837C>T (p.Asn279=)
NM_000075.4(CDK4):c.840A>T (p.Pro280=)
NM_000075.4(CDK4):c.849A>G (p.Arg283=) rs1595107798
NM_000075.4(CDK4):c.852C>A (p.Ile284=)
NM_000075.4(CDK4):c.858C>T (p.Ala286=)
NM_000075.4(CDK4):c.862C>A (p.Arg288=)
NM_000075.4(CDK4):c.867T>C (p.Ala289=)
NM_000075.4(CDK4):c.868C>T (p.Leu290=) rs1555201026
NM_000075.4(CDK4):c.870G>T (p.Leu290=) rs1299338481
NM_000075.4(CDK4):c.876C>T (p.His292=) rs1595107737
NM_000075.4(CDK4):c.879T>C (p.Ser293=)
NM_000075.4(CDK4):c.87C>G (p.Gly29=) rs1555201376
NM_000075.4(CDK4):c.900T>C (p.Gly300=)
NM_000075.4(CDK4):c.900T>G (p.Gly300=)
NM_000075.4(CDK4):c.906G>C (p.Pro302=) rs375309124
NM_000075.4(CDK4):c.911G>A (p.Ter304=)
NM_000075.4(CDK4):c.93T>C (p.Phe31=)
NM_000075.4(CDK4):c.96G>A (p.Val32=)
NM_000075.4(CDK4):c.99C>T (p.Ala33=)
NM_000075.4(CDK4):c.9C>G (p.Thr3=)
NM_000077.5(CDKN2A):c.150+1255C>A rs2811708
NM_000077.5(CDKN2A):c.361C>T (p.Leu121=) rs142371511
NM_000077.5(CDKN2A):c.369T>A (p.His123Gln) rs6413463
NM_000077.5(CDKN2A):c.83T>G (p.Val28Gly) rs775176191
NM_000079.4(CHRNA1):c.1003-8dup
NM_000079.4(CHRNA1):c.190-13dup rs34695580
NM_000079.4(CHRNA1):c.190-5del rs34695580
NM_000079.4(CHRNA1):c.43+59G>T rs7560774
NM_000079.4(CHRNA1):c.779-13_779-12del rs67309103
NM_000082.4(ERCC8):c.*583T>C rs4647158
NM_000088.4(COL1A1):c.*88T>A rs1061237
NM_000088.4(COL1A1):c.*88T>C rs1061237
NM_000088.4(COL1A1):c.-98G>A rs574683904
NM_000088.4(COL1A1):c.1056+12del
NM_000088.4(COL1A1):c.1056+12dup rs766175536
NM_000088.4(COL1A1):c.1249C>G (p.Pro417Ala) rs72648327
NM_000088.4(COL1A1):c.1300-12dup rs776544779
NM_000088.4(COL1A1):c.1300-8C>G rs41317361
NM_000088.4(COL1A1):c.1300-8C>T rs41317361
NM_000088.4(COL1A1):c.1341T>A (p.Ala447=)
NM_000088.4(COL1A1):c.1360G>A (p.Val454Ile)
NM_000088.4(COL1A1):c.1425C>T (p.Pro475=)
NM_000088.4(COL1A1):c.143A>G (p.His48Arg) rs1273874412
NM_000088.4(COL1A1):c.144T>C (p.His48=)
NM_000088.4(COL1A1):c.178A>T (p.Ile60Phe)
NM_000088.4(COL1A1):c.1811C>A (p.Pro604His)
NM_000088.4(COL1A1):c.1838A>G (p.Asp613Gly)
NM_000088.4(COL1A1):c.183C>T (p.Cys61=)
NM_000088.4(COL1A1):c.1983+9G>T rs201091992
NM_000088.4(COL1A1):c.2005G>C (p.Ala669Pro) rs563598815
NM_000088.4(COL1A1):c.200A>G (p.Lys67Arg)
NM_000088.4(COL1A1):c.2043C>A (p.Phe681Leu)
NM_000088.4(COL1A1):c.2141C>T (p.Ala714Val)
NM_000088.4(COL1A1):c.2168C>T (p.Ala723Val) rs561374961
NM_000088.4(COL1A1):c.2176C>A (p.Leu726Ile)
NM_000088.4(COL1A1):c.2284G>A (p.Val762Ile) rs138749826
NM_000088.4(COL1A1):c.2284G>C (p.Val762Leu) rs138749826
NM_000088.4(COL1A1):c.2323G>A (p.Ala775Thr)
NM_000088.4(COL1A1):c.2608C>T (p.Pro870Ser) rs771918127
NM_000088.4(COL1A1):c.2617G>A (p.Ala873Thr)
NM_000088.4(COL1A1):c.2770C>T (p.Pro924Ser)
NM_000088.4(COL1A1):c.2937+13del
NM_000088.4(COL1A1):c.3046-20CT[10] rs138425306
NM_000088.4(COL1A1):c.3046-20CT[7] rs138425306
NM_000088.4(COL1A1):c.3046-20CT[9] rs138425306
NM_000088.4(COL1A1):c.3396T>G (p.Ser1132=)
NM_000088.4(COL1A1):c.3540C>T (p.Pro1180=)
NM_000088.4(COL1A1):c.3598T>C (p.Phe1200Leu)
NM_000088.4(COL1A1):c.370-6del rs35576965
NM_000088.4(COL1A1):c.3701C>G (p.Thr1234Ser)
NM_000088.4(COL1A1):c.3737G>A (p.Arg1246Gln)
NM_000088.4(COL1A1):c.3809A>C (p.Lys1270Thr)
NM_000088.4(COL1A1):c.4039G>A (p.Asp1347Asn)
NM_000088.4(COL1A1):c.4062C>T (p.Phe1354=)
NM_000088.4(COL1A1):c.4081G>C (p.Glu1361Gln) rs141011435
NM_000088.4(COL1A1):c.4192A>G (p.Ile1398Val)
NM_000088.4(COL1A1):c.4323T>C (p.Asp1441=)
NM_000088.4(COL1A1):c.4347C>T (p.Ala1449=)
NM_000088.4(COL1A1):c.4383C>A (p.Val1461=)
NM_000088.4(COL1A1):c.529G>A (p.Val177Met)
NM_000088.4(COL1A1):c.544-19dup
NM_000088.4(COL1A1):c.622C>G (p.Pro208Ala)
NM_000088.4(COL1A1):c.6C>T (p.Phe2=)
NM_000088.4(COL1A1):c.858+20T>A
NM_000088.4(COL1A1):c.876T>C (p.Pro292=)
NM_000088.4(COL1A1):c.957+17C>T
NM_000089.4(COL1A2):c.*654_*655insGTTGTCC rs3917
NM_000089.4(COL1A2):c.1252-7del rs35587403
NM_000089.4(COL1A2):c.1446A>T (p.Pro482=) rs412777
NM_000089.4(COL1A2):c.1863+6dup
NM_000089.4(COL1A2):c.2025+14del
NM_000089.4(COL1A2):c.2079+15dup
NM_000089.4(COL1A2):c.2082C>A (p.Gly694=) rs193229878
NM_000089.4(COL1A2):c.2133+12C>A rs554520173
NM_000089.4(COL1A2):c.2563G>A (p.Ala855Thr) rs541473356
NM_000089.4(COL1A2):c.2569C>A (p.Pro857Thr) rs150179964
NM_000089.4(COL1A2):c.3135C>A (p.Gly1045=) rs1800248
NM_000089.4(COL1A2):c.3135C>T (p.Gly1045=) rs1800248
NM_000089.4(COL1A2):c.52T>G (p.Cys18Gly) rs200278401
NM_000089.4(COL1A2):c.594+118del rs193922172
NM_000089.4(COL1A2):c.71-7del rs144776919
NM_000089.4(COL1A2):c.71-7dup rs144776919
NM_000089.4(COL1A2):c.71-8_71-7dup rs144776919
NM_000089.4(COL1A2):c.81+11del rs193922174
NM_000089.4(COL1A2):c.81+17_81+18del rs1791612191
NM_000090.4(COL3A1):c.*354C>T rs41265555
NM_000090.4(COL3A1):c.1150-11del
NM_000090.4(COL3A1):c.1348-4del rs758567906
NM_000090.4(COL3A1):c.1348-4dup rs758567906
NM_000090.4(COL3A1):c.1348-5_1348-4del rs758567906
NM_000090.4(COL3A1):c.1348-5_1348-4dup
NM_000090.4(COL3A1):c.1509+5A>G rs572863064
NM_000090.4(COL3A1):c.1663-94_1663-93insCACACACA rs200204993
NM_000090.4(COL3A1):c.2002C>A (p.Pro668Thr) rs1801183
NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser) rs1801183
NM_000090.4(COL3A1):c.2022+17T>C
NM_000090.4(COL3A1):c.2355C>G (p.Pro785=) rs148901664
NM_000090.4(COL3A1):c.2493T>C (p.Gly831=) rs551541918
NM_000090.4(COL3A1):c.2723C>T (p.Ala908Val) rs144036995
NM_000090.4(COL3A1):c.3039+16del
NM_000090.4(COL3A1):c.3040-7dup
NM_000090.4(COL3A1):c.3202-9dup
NM_000090.4(COL3A1):c.3255+19dup rs1246347975
NM_000090.4(COL3A1):c.334-14dup
NM_000090.4(COL3A1):c.3824-13dup
NM_000090.4(COL3A1):c.3966G>A (p.Glu1322=) rs560861999
NM_000090.4(COL3A1):c.799-6del rs767927599
NM_000090.4(COL3A1):c.80-4del rs1064795869
NM_000093.5(COL5A1):c.*1086ATCT[1] rs16399
NM_000093.5(COL5A1):c.*1807G>C rs374715103
NM_000093.5(COL5A1):c.*733C>A rs3196378
NM_000093.5(COL5A1):c.*870_*873dup rs10628678
NM_000093.5(COL5A1):c.*948C>G rs142032213
NM_000093.5(COL5A1):c.1017C>T (p.Asp339=)
NM_000093.5(COL5A1):c.1020C>T (p.Tyr340=)
NM_000093.5(COL5A1):c.1023G>A (p.Val341=)
NM_000093.5(COL5A1):c.1049C>T (p.Ser350Leu)
NM_000093.5(COL5A1):c.1052C>A (p.Pro351Gln) rs887190843
NM_000093.5(COL5A1):c.1052C>T (p.Pro351Leu) rs887190843
NM_000093.5(COL5A1):c.1078G>C (p.Gly360Arg)
NM_000093.5(COL5A1):c.1084G>A (p.Glu362Lys)
NM_000093.5(COL5A1):c.109+17del
NM_000093.5(COL5A1):c.1102A>C (p.Thr368Pro) rs766771487
NM_000093.5(COL5A1):c.1113C>T (p.Gly371=)
NM_000093.5(COL5A1):c.1141G>T (p.Ala381Ser)
NM_000093.5(COL5A1):c.1152C>T (p.Ser384=)
NM_000093.5(COL5A1):c.1161C>T (p.Ser387=)
NM_000093.5(COL5A1):c.1173G>A (p.Pro391=)
NM_000093.5(COL5A1):c.1191G>T (p.Ala397=) rs199755089
NM_000093.5(COL5A1):c.1201G>A (p.Glu401Lys)
NM_000093.5(COL5A1):c.1208A>C (p.Glu403Ala)
NM_000093.5(COL5A1):c.1223C>T (p.Thr408Met) rs758197769
NM_000093.5(COL5A1):c.1224G>C (p.Thr408=) rs139406076
NM_000093.5(COL5A1):c.1252G>A (p.Asp418Asn)
NM_000093.5(COL5A1):c.1264G>A (p.Asp422Asn)
NM_000093.5(COL5A1):c.1333-3dup rs773903401
NM_000093.5(COL5A1):c.1383C>G (p.Ile461Met) rs61736827
NM_000093.5(COL5A1):c.1390-18CT[3] rs863223441
NM_000093.5(COL5A1):c.1390-3dup
NM_000093.5(COL5A1):c.1398C>T (p.Leu466=)
NM_000093.5(COL5A1):c.1402G>A (p.Glu468Lys) rs754948598
NM_000093.5(COL5A1):c.1455C>T (p.Thr485=)
NM_000093.5(COL5A1):c.149A>C (p.Asn50Thr)
NM_000093.5(COL5A1):c.149A>G (p.Asn50Ser) rs79138021
NM_000093.5(COL5A1):c.150C>T (p.Asn50=)
NM_000093.5(COL5A1):c.1583G>T (p.Gly528Val)
NM_000093.5(COL5A1):c.1590C>T (p.Gly530=) rs769010469
NM_000093.5(COL5A1):c.1596G>A (p.Ala532=)
NM_000093.5(COL5A1):c.1608C>A (p.Gly536=)
NM_000093.5(COL5A1):c.1691T>A (p.Met564Lys) rs1258095362
NM_000093.5(COL5A1):c.1733G>A (p.Ser578Asn)
NM_000093.5(COL5A1):c.1735G>A (p.Gly579Arg)
NM_000093.5(COL5A1):c.1762G>A (p.Val588Met)
NM_000093.5(COL5A1):c.1807G>T (p.Ala603Ser)
NM_000093.5(COL5A1):c.180C>A (p.Gly60=)
NM_000093.5(COL5A1):c.1869A>C (p.Gln623His)
NM_000093.5(COL5A1):c.1871C>T (p.Thr624Ile)
NM_000093.5(COL5A1):c.188C>T (p.Ala63Val)
NM_000093.5(COL5A1):c.1914G>A (p.Leu638=)
NM_000093.5(COL5A1):c.1923G>T (p.Glu641Asp) rs780322561
NM_000093.5(COL5A1):c.1936-21G>A rs77716946
NM_000093.5(COL5A1):c.1956C>T (p.Gly652=)
NM_000093.5(COL5A1):c.1970C>A (p.Pro657Gln)
NM_000093.5(COL5A1):c.1977C>A (p.Asp659Glu) rs370766020
NM_000093.5(COL5A1):c.1977C>T (p.Asp659=) rs370766020
NM_000093.5(COL5A1):c.1990-12del
NM_000093.5(COL5A1):c.1990-12dup rs1445580029
NM_000093.5(COL5A1):c.1997A>T (p.Asp666Val)
NM_000093.5(COL5A1):c.2022G>C (p.Leu674=) rs552160454
NM_000093.5(COL5A1):c.2031G>T (p.Glu677Asp)
NM_000093.5(COL5A1):c.2040A>T (p.Pro680=)
NM_000093.5(COL5A1):c.2109C>T (p.Gly703=)
NM_000093.5(COL5A1):c.2118G>T (p.Gly706=)
NM_000093.5(COL5A1):c.2119C>A (p.Pro707Thr)
NM_000093.5(COL5A1):c.2133+14del
NM_000093.5(COL5A1):c.216T>C (p.Asp72=)
NM_000093.5(COL5A1):c.2202C>T (p.Pro734=)
NM_000093.5(COL5A1):c.2277C>T (p.Asp759=)
NM_000093.5(COL5A1):c.2332-3del rs2132747868
NM_000093.5(COL5A1):c.242C>T (p.Ala81Val)
NM_000093.5(COL5A1):c.2430+16C>T rs530385215
NM_000093.5(COL5A1):c.2484+14G>A rs371753763
NM_000093.5(COL5A1):c.2497C>T (p.Pro833Ser) rs370547479
NM_000093.5(COL5A1):c.2545G>A (p.Gly849Arg)
NM_000093.5(COL5A1):c.2555A>T (p.Asn852Ile) rs148146480
NM_000093.5(COL5A1):c.2569C>T (p.Pro857Ser) rs1254955559
NM_000093.5(COL5A1):c.257C>G (p.Pro86Arg)
NM_000093.5(COL5A1):c.2586G>A (p.Gly862=)
NM_000093.5(COL5A1):c.2592+16C>G rs145429817
NM_000093.5(COL5A1):c.2592+16C>T rs145429817
NM_000093.5(COL5A1):c.26C>A (p.Ala9Glu) rs900216804
NM_000093.5(COL5A1):c.2700+19dup
NM_000093.5(COL5A1):c.2701-15dup
NM_000093.5(COL5A1):c.2746-11C>G
NM_000093.5(COL5A1):c.2800-18C>A rs73664144
NM_000093.5(COL5A1):c.2800-18C>T rs73664144
NM_000093.5(COL5A1):c.2830C>T (p.Pro944Ser)
NM_000093.5(COL5A1):c.2831C>T (p.Pro944Leu) rs756440511
NM_000093.5(COL5A1):c.2899-7dup
NM_000093.5(COL5A1):c.2905C>T (p.Pro969Ser) rs759627305
NM_000093.5(COL5A1):c.2929C>T (p.His977Tyr)
NM_000093.5(COL5A1):c.2970C>T (p.Thr990=)
NM_000093.5(COL5A1):c.2983C>T (p.Pro995Ser) rs187022757
NM_000093.5(COL5A1):c.2986C>T (p.Pro996Ser) rs774351619
NM_000093.5(COL5A1):c.3031A>G (p.Met1011Val)
NM_000093.5(COL5A1):c.3033G>A (p.Met1011Ile)
NM_000093.5(COL5A1):c.3121C>G (p.Pro1041Ala) rs751792216
NM_000093.5(COL5A1):c.3228T>C (p.Asn1076=)
NM_000093.5(COL5A1):c.3260G>C (p.Gly1087Ala) rs559882772
NM_000093.5(COL5A1):c.3333A>C (p.Gly1111=)
NM_000093.5(COL5A1):c.3335C>T (p.Pro1112Leu)
NM_000093.5(COL5A1):c.3357A>G (p.Lys1119=)
NM_000093.5(COL5A1):c.3379C>T (p.Pro1127Ser)
NM_000093.5(COL5A1):c.338A>G (p.Gln113Arg)
NM_000093.5(COL5A1):c.3454C>T (p.Pro1152Ser) rs1424921275
NM_000093.5(COL5A1):c.3488A>C (p.Glu1163Ala)
NM_000093.5(COL5A1):c.34G>A (p.Ala12Thr) rs1160540030
NM_000093.5(COL5A1):c.3528+46G>C rs3827850
NM_000093.5(COL5A1):c.3535C>T (p.Pro1179Ser)
NM_000093.5(COL5A1):c.3672T>G (p.Pro1224=)
NM_000093.5(COL5A1):c.3696G>A (p.Leu1232=)
NM_000093.5(COL5A1):c.3738C>A (p.Gly1246=)
NM_000093.5(COL5A1):c.3784G>A (p.Ala1262Thr) rs1211791316
NM_000093.5(COL5A1):c.3841G>C (p.Val1281Leu)
NM_000093.5(COL5A1):c.3859C>A (p.Pro1287Thr)
NM_000093.5(COL5A1):c.3906+15G>A rs370937109
NM_000093.5(COL5A1):c.3906+15G>C rs370937109
NM_000093.5(COL5A1):c.3964C>A (p.Pro1322Thr)
NM_000093.5(COL5A1):c.4020A>G (p.Pro1340=) rs776564144
NM_000093.5(COL5A1):c.4039C>A (p.Pro1347Thr)
NM_000093.5(COL5A1):c.4048C>G (p.Pro1350Ala) rs762699995
NM_000093.5(COL5A1):c.4190C>G (p.Pro1397Arg)
NM_000093.5(COL5A1):c.4273A>T (p.Ile1425Phe)
NM_000093.5(COL5A1):c.431C>T (p.Thr144Met) rs561761305
NM_000093.5(COL5A1):c.4374C>A (p.Asp1458Glu) rs201335857
NM_000093.5(COL5A1):c.4378C>T (p.Pro1460Ser) rs773125713
NM_000093.5(COL5A1):c.4393-13C>A
NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=) rs2228560
NM_000093.5(COL5A1):c.4482G>C (p.Pro1494=) rs2228560
NM_000093.5(COL5A1):c.4515C>T (p.Leu1505=) rs764114280
NM_000093.5(COL5A1):c.4523C>T (p.Pro1508Leu)
NM_000093.5(COL5A1):c.452A>G (p.Asp151Gly)
NM_000093.5(COL5A1):c.453C>G (p.Asp151Glu) rs373089071
NM_000093.5(COL5A1):c.4641C>G (p.Ser1547=)
NM_000093.5(COL5A1):c.466C>T (p.Arg156Trp)
NM_000093.5(COL5A1):c.4692C>T (p.Gly1564=) rs61735501
NM_000093.5(COL5A1):c.4699-3del rs1554808051
NM_000093.5(COL5A1):c.4704C>T (p.Pro1568=)
NM_000093.5(COL5A1):c.4714G>A (p.Val1572Ile) rs543014323
NM_000093.5(COL5A1):c.4754G>A (p.Arg1585Gln) rs531431738
NM_000093.5(COL5A1):c.4795G>A (p.Glu1599Lys) rs149212775
NM_000093.5(COL5A1):c.4814C>G (p.Ala1605Gly) rs145175057
NM_000093.5(COL5A1):c.4847A>G (p.Asn1616Ser)
NM_000093.5(COL5A1):c.4954+17dup rs757067716
NM_000093.5(COL5A1):c.4971T>C (p.Asp1657=)
NM_000093.5(COL5A1):c.49G>T (p.Ala17Ser)
NM_000093.5(COL5A1):c.5033C>T (p.Ser1678Leu)
NM_000093.5(COL5A1):c.5040C>T (p.Cys1680=)
NM_000093.5(COL5A1):c.5052C>G (p.Asp1684Glu)
NM_000093.5(COL5A1):c.5057A>G (p.Lys1686Arg)
NM_000093.5(COL5A1):c.5062G>A (p.Glu1688Lys)
NM_000093.5(COL5A1):c.5148G>A (p.Val1716=) rs772597610
NM_000093.5(COL5A1):c.5194C>T (p.Arg1732Trp) rs201379514
NM_000093.5(COL5A1):c.5202G>C (p.Leu1734=)
NM_000093.5(COL5A1):c.521A>G (p.Lys174Arg)
NM_000093.5(COL5A1):c.5247A>G (p.Ser1749=)
NM_000093.5(COL5A1):c.5266G>A (p.Ala1756Thr) rs769947722
NM_000093.5(COL5A1):c.5274C>T (p.Gly1758=)
NM_000093.5(COL5A1):c.5311G>T (p.Asp1771Tyr)
NM_000093.5(COL5A1):c.5329G>A (p.Asp1777Asn) rs863223462
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr) rs143859495
NM_000093.5(COL5A1):c.5350G>T (p.Ala1784Ser) rs143859495
NM_000093.5(COL5A1):c.5354T>C (p.Leu1785Pro)
NM_000093.5(COL5A1):c.540C>G (p.Ile180Met)
NM_000093.5(COL5A1):c.5414C>G (p.Pro1805Arg) rs377563294
NM_000093.5(COL5A1):c.5428G>T (p.Val1810Leu)
NM_000093.5(COL5A1):c.5468C>T (p.Ala1823Val) rs747656987
NM_000093.5(COL5A1):c.5510T>C (p.Met1837Thr)
NM_000093.5(COL5A1):c.576C>A (p.Asp192Glu)
NM_000093.5(COL5A1):c.601A>C (p.Ile201Leu) rs371351417
NM_000093.5(COL5A1):c.616G>A (p.Val206Met)
NM_000093.5(COL5A1):c.626C>T (p.Thr209Ile)
NM_000093.5(COL5A1):c.646G>T (p.Val216Leu)
NM_000093.5(COL5A1):c.698C>G (p.Ala233Gly)
NM_000093.5(COL5A1):c.731G>A (p.Cys244Tyr)
NM_000093.5(COL5A1):c.802G>A (p.Gly268Ser) rs748603743
NM_000093.5(COL5A1):c.840C>T (p.Tyr280=)
NM_000093.5(COL5A1):c.851A>G (p.Glu284Gly)
NM_000093.5(COL5A1):c.857T>C (p.Leu286Pro)
NM_000093.5(COL5A1):c.889G>A (p.Val297Met)
NM_000093.5(COL5A1):c.891G>A (p.Val297=)
NM_000093.5(COL5A1):c.935C>G (p.Pro312Arg) rs367726185
NM_000093.5(COL5A1):c.935C>T (p.Pro312Leu) rs367726185
NM_000093.5(COL5A1):c.95C>A (p.Pro32His)
NM_000093.5(COL5A1):c.983G>A (p.Gly328Glu) rs576742644
NM_000095.3(COMP):c.1668+13T>A rs74432818
NM_000095.3(COMP):c.1668+13T>G rs74432818
NM_000095.3(COMP):c.195G>A (p.Thr65=) rs529891904
NM_000095.3(COMP):c.218-14C>T rs150008764
NM_000095.3(COMP):c.218-6C>G rs534407430
NM_000104.4(CYP1B1):c.*210dup rs4646431
NM_000104.4(CYP1B1):c.-97dup rs11379588
NM_000108.5(DLD):c.*470G>T rs111619940
NM_000108.5(DLD):c.*947G>T rs7777259
NM_000108.5(DLD):c.1237-15_1237-14del
NM_000108.5(DLD):c.267+15del rs886061906
NM_000108.5(DLD):c.40-5del
NM_000108.5(DLD):c.439-7del
NM_000108.5(DLD):c.685-14del rs759170630
NM_000112.4(SLC26A2):c.*4469del rs397883627
NM_000115.5(EDNRB):c.-121G>T rs12720105
NM_000116.5(TAFAZZIN):c.*470= rs743547
NM_000116.5(TAFAZZIN):c.646+12del
NM_000116.5(TAFAZZIN):c.778-63_778-51del rs782249471
NM_000116.5(TAZ):c.-119=
NM_000124.4(ERCC6):c.*2946C>T rs146529081
NM_000124.4(ERCC6):c.-87C>A rs4253004
NM_000124.4(ERCC6):c.3689G>C (p.Arg1230Pro) rs4253211
NM_000124.4(ERCC6):c.3774A>G (p.Lys1258=) rs35756610
NM_000126.4(ETFA):c.40-19del
NM_000126.4(ETFA):c.40-19dup rs755841159
NM_000126.4(ETFA):c.40-20_40-19dup
NM_000126.4(ETFA):c.665-17del rs144403864
NM_000126.4(ETFA):c.665-17dup rs144403864
NM_000126.4(ETFA):c.734-9del
NM_000126.4(ETFA):c.817-8del
NM_000126.4(ETFA):c.964-20C>G rs570818940
NM_000135.4(FANCA):c.*154G>A rs1230
NM_000135.4(FANCA):c.1225+10del rs2143529499
NM_000135.4(FANCA):c.1225+20C>T rs199534742
NM_000135.4(FANCA):c.1290G>A (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.2223-114C>T rs886952
NM_000135.4(FANCA):c.2432G>A (p.Gly811Asp) rs201152989
NM_000135.4(FANCA):c.2505-4del
NM_000135.4(FANCA):c.2602-13CT[2] rs577636020
NM_000135.4(FANCA):c.2602-19G>C rs17233225
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile) rs536839082
NM_000135.4(FANCA):c.3349-5dup
NM_000135.4(FANCA):c.3597G>A (p.Lys1199=) rs1240994313
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000135.4(FANCA):c.4260+29T>C rs1800359
NM_000135.4(FANCA):c.4261-75_4261-60del
NM_000135.4(FANCA):c.427-19dup
NM_000135.4(FANCA):c.523-4dup
NM_000135.4(FANCA):c.710-142_710-141dup rs17232344
NM_000135.4(FANCA):c.826+10T>C rs536052530
NM_000136.3(FANCC):c.*1662C>T rs4647556
NM_000136.3(FANCC):c.*1727T>A rs4647557
NM_000136.3(FANCC):c.*42G>A rs7029888
NM_000136.3(FANCC):c.1329+16del
NM_000136.3(FANCC):c.1485G>A (p.Leu495=) rs56082100
NM_000136.3(FANCC):c.251-5del
NM_000136.3(FANCC):c.346-18del
NM_000136.3(FANCC):c.346-3del rs766373744
NM_000138.5(FBN1):c.*1562G>T rs78442438
NM_000138.5(FBN1):c.*967C>T rs56024388
NM_000138.5(FBN1):c.3712+9G>T rs769251450
NM_000138.5(FBN1):c.4998C>T (p.Thr1666=) rs141925790
NM_000138.5(FBN1):c.5066-14dup rs3833018
NM_000138.5(FBN1):c.8185A>C (p.Lys2729Gln) rs370096856
NM_000141.5(FGFR2):c.-236G>A rs1047111
NM_000141.5(FGFR2):c.-236G>C rs1047111
NM_000141.5(FGFR2):c.-626C>A rs549524538
NM_000141.5(FGFR2):c.2416G>A (p.Glu806Lys) rs764959117
NM_000141.5(FGFR2):c.696A>G (p.Val232=) rs1047100
NM_000143.4(FH):c.1237-50TC[20] rs144131869
NM_000147.5(FUCA1):c.1017T>C (p.Ile339=)
NM_000147.5(FUCA1):c.29C>G (p.Pro10Arg) rs2070956
NM_000147.5(FUCA1):c.389+18del
NM_000147.5(FUCA1):c.437C>T (p.Pro146Leu) rs2228424
NM_000147.5(FUCA1):c.7G>C (p.Ala3Pro) rs61996282
NM_000162.5(GCK):c.-217C>G rs73691419
NM_000162.5(GCK):c.-267G>T rs59914952
NM_000165.5(GJA1):c.*773dup rs397698276
NM_000165.5(GJA1):c.-16-12T>A rs56199702
NM_000165.5(GJA1):c.717G>A (p.Arg239=) rs57946868
NM_000165.5(GJA1):c.717G>C (p.Arg239=) rs57946868
NM_000168.6(GLI3):c.*2050T>G rs573860484
NM_000168.6(GLI3):c.*265dup rs550264781
NM_000168.6(GLI3):c.*3004G>A rs3735361
NM_000168.6(GLI3):c.*3238C>T rs372628047
NM_000168.6(GLI3):c.*3341dup rs138425063
NM_000168.6(GLI3):c.-68G>A rs113629469
NM_000168.6(GLI3):c.1029-22dup rs559579130
NM_000168.6(GLI3):c.1207G>A (p.Val403Ile) rs201070431
NM_000168.6(GLI3):c.1254G>A (p.Thr418=)
NM_000168.6(GLI3):c.1317C>T (p.Pro439=)
NM_000168.6(GLI3):c.1346G>C (p.Arg449Pro) rs745809543
NM_000168.6(GLI3):c.1356+10C>A rs765591867
NM_000168.6(GLI3):c.1461C>T (p.Cys487=)
NM_000168.6(GLI3):c.1471T>C (p.Phe491Leu)
NM_000168.6(GLI3):c.1497C>G (p.His499Gln) rs539144173
NM_000168.6(GLI3):c.1497C>T (p.His499=) rs539144173
NM_000168.6(GLI3):c.1509C>T (p.Asn503=) rs34020684
NM_000168.6(GLI3):c.1530G>A (p.Lys510=)
NM_000168.6(GLI3):c.1539C>T (p.Phe513=)
NM_000168.6(GLI3):c.1623G>A (p.Thr541=)
NM_000168.6(GLI3):c.1626C>T (p.Gly542=)
NM_000168.6(GLI3):c.1629G>A (p.Glu543=)
NM_000168.6(GLI3):c.1647+16G>C
NM_000168.6(GLI3):c.1674G>A (p.Ser558=)
NM_000168.6(GLI3):c.1818A>G (p.Pro606=)
NM_000168.6(GLI3):c.186A>G (p.Pro62=) rs1452738609
NM_000168.6(GLI3):c.1902A>T (p.Pro634=)
NM_000168.6(GLI3):c.1911T>C (p.His637=) rs886038265
NM_000168.6(GLI3):c.2003C>T (p.Pro668Leu)
NM_000168.6(GLI3):c.2056C>T (p.Arg686Trp)
NM_000168.6(GLI3):c.2082C>T (p.Thr694=)
NM_000168.6(GLI3):c.2083G>A (p.Val695Ile) rs199606102
NM_000168.6(GLI3):c.2163C>T (p.Ser721=)
NM_000168.6(GLI3):c.2308G>T (p.Ala770Ser) rs1355649064
NM_000168.6(GLI3):c.2331C>T (p.His777=) rs1057524835
NM_000168.6(GLI3):c.2407G>C (p.Ala803Pro)
NM_000168.6(GLI3):c.2550C>T (p.Ser850=)
NM_000168.6(GLI3):c.2772C>G (p.Ala924=)
NM_000168.6(GLI3):c.2784C>T (p.Arg928=)
NM_000168.6(GLI3):c.2803G>A (p.Ala935Thr)
NM_000168.6(GLI3):c.2826G>C (p.Pro942=) rs34245321
NM_000168.6(GLI3):c.2826G>T (p.Pro942=) rs34245321
NM_000168.6(GLI3):c.2961C>T (p.Tyr987=)
NM_000168.6(GLI3):c.2970C>T (p.Arg990=)
NM_000168.6(GLI3):c.2974C>G (p.Leu992Val)
NM_000168.6(GLI3):c.2993C>G (p.Pro998Arg)
NM_000168.6(GLI3):c.3000C>T (p.His1000=)
NM_000168.6(GLI3):c.3001G>A (p.Gly1001Ser) rs202182779
NM_000168.6(GLI3):c.3083_3084delinsTT (p.Ser1028Ile) rs886043721
NM_000168.6(GLI3):c.3102G>T (p.Ala1034=)
NM_000168.6(GLI3):c.3109A>G (p.Thr1037Ala)
NM_000168.6(GLI3):c.3114C>T (p.Ser1038=)
NM_000168.6(GLI3):c.3318A>C (p.Ala1106=)
NM_000168.6(GLI3):c.3372C>T (p.His1124=) rs542238121
NM_000168.6(GLI3):c.3396C>T (p.Pro1132=)
NM_000168.6(GLI3):c.3411C>A (p.Ser1137Arg)
NM_000168.6(GLI3):c.3514C>T (p.Leu1172=)
NM_000168.6(GLI3):c.3539G>C (p.Gly1180Ala)
NM_000168.6(GLI3):c.3611C>T (p.Pro1204Leu)
NM_000168.6(GLI3):c.3622G>T (p.Gly1208Trp) rs369440387
NM_000168.6(GLI3):c.367+49TG[20] rs34148485
NM_000168.6(GLI3):c.3765G>A (p.Gly1255=)
NM_000168.6(GLI3):c.3957A>G (p.Gly1319=)
NM_000168.6(GLI3):c.4020C>T (p.Pro1340=) rs35139358
NM_000168.6(GLI3):c.4220G>A (p.Gly1407Glu)
NM_000168.6(GLI3):c.4392C>A (p.Asp1464Glu)
NM_000168.6(GLI3):c.4710G>A (p.Ala1570=)
NM_000168.6(GLI3):c.538C>T (p.Arg180Trp)
NM_000168.6(GLI3):c.618C>T (p.Ser206=)
NM_000168.6(GLI3):c.827-19dup rs200073401
NM_000169.3(GLA):c.311G>A (p.Gly104Asp) rs869312274
NM_000169.3(GLA):c.369+15A>G
NM_000169.3(GLA):c.370-81_370-77del rs5903184
NM_000169.3(GLA):c.460A>G (p.Ile154Val)
NM_000169.3(GLA):c.490G>T (p.Val164Leu) rs869312144
NM_000169.3(GLA):c.639+10_639+13del rs782473708
NM_000169.3(GLA):c.640-854_640-853del rs201655854
NM_000169.3(GLA):c.801+7dup
NM_000181.4(GUSB):c.1476+13del rs2115900599
NM_000181.4(GUSB):c.1476+13dup
NM_000181.4(GUSB):c.1482G>A (p.Pro494=) rs548880426
NM_000181.4(GUSB):c.1790-5del rs750022485
NM_000181.4(GUSB):c.397-20dup rs765594686
NM_000181.4(GUSB):c.724+23TC[3] rs3830444
NM_000182.5(HADHA):c.*202G>A rs7260
NM_000182.5(HADHA):c.1080T>G (p.Asp360Glu)
NM_000182.5(HADHA):c.1393-10dup rs2147756168
NM_000182.5(HADHA):c.1620+8dup
NM_000183.3(HADHB):c.1062-9dup
NM_000183.3(HADHB):c.1371G>A (p.Ala457=) rs72851542
NM_000183.3(HADHB):c.5_7dup (p.Thr2dup) rs3839049
NM_000183.3(HADHB):c.64+22dup
NM_000183.3(HADHB):c.812-5A>T rs72851534
NM_000183.3(HADHB):c.812-6dup
NM_000192.3(TBX5):c.-167G>A rs146645348
NM_000193.4(SHH):c.1164T>C (p.Ala388=)
NM_000193.4(SHH):c.301-18del
NM_000193.4(SHH):c.585G>A (p.Ser195=) rs372353493
NM_000193.4(SHH):c.780G>A (p.Pro260=)
NM_000199.5(SGSH):c.1159G>A (p.Val387Met) rs62620232
NM_000199.5(SGSH):c.637C>A (p.Gln213Lys) rs200644359
NM_000199.5(SGSH):c.664-39_664-36delinsGC rs386799751
NM_000199.5(SGSH):c.664-39_664-38del rs34029730
NM_000202.8(IDS):c.1007-7G>C rs2124006476
NM_000202.8(IDS):c.103+5C>T rs782108228
NM_000202.8(IDS):c.1181-14G>A
NM_000202.8(IDS):c.1327C>A (p.Arg443=)
NM_000202.8(IDS):c.1454T>C (p.Ile485Thr)
NM_000202.8(IDS):c.1548C>T (p.Asp516=)
NM_000202.8(IDS):c.418+14T>C
NM_000202.8(IDS):c.418+17A>G
NM_000202.8(IDS):c.419-16dup rs781852261
NM_000202.8(IDS):c.419-6del rs781852261
NM_000202.8(IDS):c.636G>A (p.Met212Ile)
NM_000202.8(IDS):c.709-661del rs1196180401
NM_000202.8(IDS):c.781C>A (p.Pro261Thr) rs141720810
NM_000202.8(IDS):c.880-11del
NM_000202.8(IDS):c.880-11dup
NM_000202.8(IDS):c.880-4G>A
NM_000202.8(IDS):c.957C>A (p.Asp319Glu) rs782488487
NM_000203.5(IDUA):c.1190-10del rs150523349
NM_000203.5(IDUA):c.1190-10dup rs150523349
NM_000203.5(IDUA):c.1190-11_1190-10dup rs150523349
NM_000203.5(IDUA):c.1230C>G (p.Thr410=) rs115790973
NM_000203.5(IDUA):c.1479C>A (p.Pro493=) rs370394527
NM_000203.5(IDUA):c.1651-10C>T rs548878643
NM_000203.5(IDUA):c.1727+21del
NM_000203.5(IDUA):c.314G>A (p.Arg105Gln) rs3755955
NM_000203.5(IDUA):c.589+20dup
NM_000203.5(IDUA):c.590-45G>C rs6829789
NM_000203.5(IDUA):c.590-8C>T rs6848974
NM_000203.5(IDUA):c.590-8del
NM_000203.5(IDUA):c.590-8dup
NM_000203.5(IDUA):c.973-45G>C rs6831021
NM_000203.5(IDUA):c.99T>A (p.His33Gln)
NM_000208.4(INSR):c.*1416del rs3833238
NM_000208.4(INSR):c.*288del rs35434645
NM_000208.4(INSR):c.*930dup rs34045095
NM_000208.4(INSR):c.1638C>T (p.Asp546=) rs2229429
NM_000208.4(INSR):c.1650G>A (p.Ala550=) rs2059806
NM_000208.4(INSR):c.2526G>C (p.Ala842=) rs2229430
NM_000208.4(INSR):c.653-23TC[11] rs3835070
NM_000208.4(INSR):c.653-23TC[9] rs3835070
NM_000214.3(JAG1):c.1205C>G (p.Pro402Arg) rs144204614
NM_000214.3(JAG1):c.1230G>A (p.Gln410=)
NM_000214.3(JAG1):c.1263T>C (p.Cys421=)
NM_000214.3(JAG1):c.1349-8dup rs767319365
NM_000214.3(JAG1):c.1368C>T (p.Gly456=)
NM_000214.3(JAG1):c.1396-27TC[6] rs544547916
NM_000214.3(JAG1):c.1414C>T (p.Arg472Cys)
NM_000214.3(JAG1):c.1438G>T (p.Ala480Ser)
NM_000214.3(JAG1):c.1551C>T (p.Phe517=)
NM_000214.3(JAG1):c.1823A>G (p.Gln608Arg)
NM_000214.3(JAG1):c.1886-20dup
NM_000214.3(JAG1):c.2150G>C (p.Gly717Ala) rs200473477
NM_000214.3(JAG1):c.2188A>G (p.Met730Val)
NM_000214.3(JAG1):c.2271C>T (p.Gly757=)
NM_000214.3(JAG1):c.2280G>T (p.Val760=)
NM_000214.3(JAG1):c.2344+17del rs774508190
NM_000214.3(JAG1):c.2581A>G (p.Arg861Gly)
NM_000214.3(JAG1):c.2616T>C (p.Asp872=)
NM_000214.3(JAG1):c.2620G>A (p.Ala874Thr)
NM_000214.3(JAG1):c.2632G>A (p.Asp878Asn) rs750102792
NM_000214.3(JAG1):c.2699G>A (p.Arg900Gln)
NM_000214.3(JAG1):c.2884A>G (p.Thr962Ala)
NM_000214.3(JAG1):c.2916+27del rs3215563
NM_000214.3(JAG1):c.294C>T (p.Ser98=) rs79338570
NM_000214.3(JAG1):c.3124C>T (p.Arg1042Cys)
NM_000214.3(JAG1):c.3178C>T (p.Arg1060Trp)
NM_000214.3(JAG1):c.3209T>C (p.Val1070Ala)
NM_000214.3(JAG1):c.3302G>A (p.Ser1101Asn)
NM_000214.3(JAG1):c.3309A>T (p.Thr1103=)
NM_000214.3(JAG1):c.33G>T (p.Gly11=)
NM_000214.3(JAG1):c.346G>T (p.Asp116Tyr)
NM_000214.3(JAG1):c.3503C>G (p.Ala1168Gly)
NM_000214.3(JAG1):c.3505C>G (p.Arg1169Gly) rs368162343
NM_000214.3(JAG1):c.3577C>T (p.His1193Tyr)
NM_000214.3(JAG1):c.694+4TG[8] rs112693360
NM_000214.3(JAG1):c.695-10dup rs762788344
NM_000214.3(JAG1):c.695-5del rs762788344
NM_000214.3(JAG1):c.954C>T (p.Asp318=)
NM_000218.3(KCNQ1):c.1252-3del rs12720450
NM_000218.3(KCNQ1):c.1252-3dup rs12720450
NM_000218.3(KCNQ1):c.1343C>A (p.Pro448Gln) rs12720449
NM_000218.3(KCNQ1):c.1343C>G (p.Pro448Arg) rs12720449
NM_000218.3(KCNQ1):c.1394-8C>T rs371488379
NM_000218.3(KCNQ1):c.160_168dup (p.Ile54_Pro56dup) rs397515877
NM_000218.3(KCNQ1):c.1746T>C (p.Asp582=) rs569971691
NM_000218.3(KCNQ1):c.1875C>T (p.Pro625=) rs112113213
NM_000218.3(KCNQ1):c.1986C>G (p.Tyr662Ter) rs11601907
NM_000218.3(KCNQ1):c.1986C>T (p.Tyr662=) rs11601907
NM_000218.3(KCNQ1):c.513C>T (p.Tyr171=) rs139042529
NM_000219.6(KCNE1):c.*1547dup rs11373310
NM_000219.6(KCNE1):c.*1815A>G rs57555550
NM_000219.6(KCNE1):c.*2007= rs2211696
NM_000219.6(KCNE1):c.*2123G>A rs41314793
NM_000226.4(KRT9):c.429A>C (p.Gly143=) rs8075921
NM_000233.4(LHCGR):c.*512C>T rs564632841
NM_000233.4(LHCGR):c.337T>A (p.Tyr113Asn) rs140691492
NM_000233.4(LHCGR):c.50_55dup (p.Gln18_Pro19insLeuGln) rs71245621
NM_000238.4(KCNH2):c.*92C>T rs149750773
NM_000238.4(KCNH2):c.1320G>T (p.Pro440=) rs144926928
NM_000238.4(KCNH2):c.1467C>T (p.Ile489=) rs740952
NM_000238.4(KCNH2):c.1500C>A (p.Ile500=) rs147126965
NM_000238.4(KCNH2):c.1946-3dup
NM_000238.4(KCNH2):c.2593-9del
NM_000238.4(KCNH2):c.2653C>T (p.Arg885Cys) rs143512106
NM_000238.4(KCNH2):c.300G>T (p.Arg100=) rs761176105
NM_000238.4(KCNH2):c.308-377T>G rs12668582
NM_000238.4(KCNH2):c.3140G>T (p.Arg1047Leu) rs36210421
NM_000238.4(KCNH2):c.326T>G (p.Leu109Arg) rs199473498
NM_000238.4(KCNH2):c.3331-13GT[2] rs41313749
NM_000238.4(KCNH2):c.551GCGCGGGCG[1] (p.184GAG[1]) rs551056698
NM_000238.4(KCNH2):c.76+17del
NM_000244.4(MEN1):c.-35A>C rs679946
NM_000244.4(MEN1):c.-35A>T rs679946
NM_000256.3(MYBPC3):c.558G>T (p.Pro186=) rs370962887
NM_000257.4(MYH7):c.3337-4dup rs45504498
NM_000262.3(NAGA):c.*1788_*1789del rs10713176
NM_000262.3(NAGA):c.406G>A (p.Asp136Asn) rs186173534
NM_000262.3(NAGA):c.597+18dup rs553359794
NM_000262.3(NAGA):c.838C>A (p.Leu280Ile) rs578127376
NM_000263.4(NAGLU):c.1021+15T>C rs149434978
NM_000263.4(NAGLU):c.2209C>A (p.Arg737Ser) rs86312
NM_000263.4(NAGLU):c.2209C>G (p.Arg737Gly) rs86312
NM_000263.4(NAGLU):c.383+10del
NM_000263.4(NAGLU):c.764+20del
NM_000263.4(NAGLU):c.933C>G (p.Ala311=) rs115888189
NM_000264.5(PTCH1):c.*105G>A rs142840663
NM_000264.5(PTCH1):c.*248C>T rs576591779
NM_000264.5(PTCH1):c.*664dup rs111365480
NM_000264.5(PTCH1):c.-24GGC[3] rs71366293
NM_000264.5(PTCH1):c.-24GGC[4] rs71366293
NM_000264.5(PTCH1):c.-24GGC[5] rs71366293
NM_000264.5(PTCH1):c.-24GGC[6] rs71366293
NM_000264.5(PTCH1):c.-24GGC[8] rs71366293
NM_000264.5(PTCH1):c.-24GGC[9] rs71366293
NM_000264.5(PTCH1):c.1052C>G (p.Thr351Ser)
NM_000264.5(PTCH1):c.1087A>G (p.Met363Val) rs1342698215
NM_000264.5(PTCH1):c.108G>C (p.Thr36=)
NM_000264.5(PTCH1):c.109G>T (p.Gly37Trp) rs199976372
NM_000264.5(PTCH1):c.1126T>C (p.Phe376Leu)
NM_000264.5(PTCH1):c.113G>T (p.Gly38Val) rs143494325
NM_000264.5(PTCH1):c.1247C>T (p.Thr416Ile) rs201174718
NM_000264.5(PTCH1):c.1254G>T (p.Lys418Asn) rs1227338966
NM_000264.5(PTCH1):c.1266C>T (p.Phe422=)
NM_000264.5(PTCH1):c.1348-17del
NM_000264.5(PTCH1):c.135G>A (p.Pro45=)
NM_000264.5(PTCH1):c.140G>C (p.Arg47Pro)
NM_000264.5(PTCH1):c.140G>T (p.Arg47Leu) rs775408408
NM_000264.5(PTCH1):c.1473C>G (p.Ile491Met) rs768183391
NM_000264.5(PTCH1):c.1504-8del rs2118287389
NM_000264.5(PTCH1):c.1561G>A (p.Ala521Thr) rs781101191
NM_000264.5(PTCH1):c.1592T>C (p.Ile531Thr) rs1227526379
NM_000264.5(PTCH1):c.1602+15_1602+17del rs528001004
NM_000264.5(PTCH1):c.1603-9dup rs759445912
NM_000264.5(PTCH1):c.1681A>G (p.Met561Val) rs1332335605
NM_000264.5(PTCH1):c.1686C>G (p.Ala562=) rs2066836
NM_000264.5(PTCH1):c.1716G>A (p.Ala572=) rs55844310
NM_000264.5(PTCH1):c.1729-11del rs779000277
NM_000264.5(PTCH1):c.1729-11dup rs779000277
NM_000264.5(PTCH1):c.1782A>G (p.Ala594=)
NM_000264.5(PTCH1):c.186G>A (p.Leu62=)
NM_000264.5(PTCH1):c.1904A>G (p.Asp635Gly)
NM_000264.5(PTCH1):c.1915T>C (p.Tyr639His)
NM_000264.5(PTCH1):c.1925C>A (p.Pro642Gln) rs762371629
NM_000264.5(PTCH1):c.1962G>T (p.Thr654=) rs201544613
NM_000264.5(PTCH1):c.2014A>G (p.Thr672Ala)
NM_000264.5(PTCH1):c.2156G>A (p.Ser719Asn) rs1840282022
NM_000264.5(PTCH1):c.2177C>A (p.Pro726His) rs587780697
NM_000264.5(PTCH1):c.217C>G (p.Arg73Gly)
NM_000264.5(PTCH1):c.2238A>T (p.Lys746Asn) rs776817244
NM_000264.5(PTCH1):c.2485G>T (p.Val829Leu) rs201125580
NM_000264.5(PTCH1):c.2570A>G (p.Asp857Gly)
NM_000264.5(PTCH1):c.275G>A (p.Cys92Tyr)
NM_000264.5(PTCH1):c.2831A>G (p.His944Arg)
NM_000264.5(PTCH1):c.2833C>G (p.Arg945Gly)
NM_000264.5(PTCH1):c.2868G>A (p.Met956Ile) rs761501958
NM_000264.5(PTCH1):c.2876C>T (p.Thr959Ile) rs776378611
NM_000264.5(PTCH1):c.2888-8C>T rs567994836
NM_000264.5(PTCH1):c.2907C>A (p.Ile969=)
NM_000264.5(PTCH1):c.2922C>G (p.Phe974Leu)
NM_000264.5(PTCH1):c.2975A>G (p.Glu992Gly)
NM_000264.5(PTCH1):c.3046C>T (p.Leu1016Phe) rs374575067
NM_000264.5(PTCH1):c.3126G>A (p.Val1042=)
NM_000264.5(PTCH1):c.312G>A (p.Val104=)
NM_000264.5(PTCH1):c.3182C>T (p.Ala1061Val) rs1409913416
NM_000264.5(PTCH1):c.321C>T (p.Leu107=)
NM_000264.5(PTCH1):c.3255C>T (p.Ile1085=)
NM_000264.5(PTCH1):c.3344C>T (p.Ala1115Val) rs779192138
NM_000264.5(PTCH1):c.3346G>C (p.Val1116Leu)
NM_000264.5(PTCH1):c.336C>A (p.Phe112Leu)
NM_000264.5(PTCH1):c.3472A>T (p.Ile1158Phe) rs368636457
NM_000264.5(PTCH1):c.3481A>G (p.Ile1161Val) rs202102540
NM_000264.5(PTCH1):c.3525G>A (p.Leu1175=)
NM_000264.5(PTCH1):c.355G>A (p.Ala119Thr)
NM_000264.5(PTCH1):c.3565G>T (p.Gly1189Cys) rs767535853
NM_000264.5(PTCH1):c.3588C>T (p.Pro1196=)
NM_000264.5(PTCH1):c.361C>T (p.Leu121Phe) rs776424978
NM_000264.5(PTCH1):c.3624C>A (p.Ala1208=) rs149691476
NM_000264.5(PTCH1):c.3624C>T (p.Ala1208=) rs149691476
NM_000264.5(PTCH1):c.3625A>G (p.Met1209Val)
NM_000264.5(PTCH1):c.363C>T (p.Leu121=)
NM_000264.5(PTCH1):c.3650G>A (p.Gly1217Glu)
NM_000264.5(PTCH1):c.3666C>T (p.Asp1222=) rs777377921
NM_000264.5(PTCH1):c.373G>A (p.Val125Met) rs760253622
NM_000264.5(PTCH1):c.3743G>C (p.Gly1248Ala) rs375857496
NM_000264.5(PTCH1):c.3754C>G (p.His1252Asp) rs780990429
NM_000264.5(PTCH1):c.3754C>T (p.His1252Tyr)
NM_000264.5(PTCH1):c.3796C>T (p.His1266Tyr) rs751826546
NM_000264.5(PTCH1):c.3809T>C (p.Val1270Ala) rs1342034180
NM_000264.5(PTCH1):c.3896G>A (p.Gly1299Asp) rs773133083
NM_000264.5(PTCH1):c.3905C>T (p.Pro1302Leu) rs780042369
NM_000264.5(PTCH1):c.3908G>T (p.Arg1303Leu) rs779365332
NM_000264.5(PTCH1):c.3919C>G (p.Pro1307Ala) rs574880967
NM_000264.5(PTCH1):c.3920C>A (p.Pro1307His) rs181585555
NM_000264.5(PTCH1):c.3924A>T (p.Arg1308Ser) rs762725821
NM_000264.5(PTCH1):c.3929G>T (p.Gly1310Val) rs773043616
NM_000264.5(PTCH1):c.3931T>C (p.Leu1311=)
NM_000264.5(PTCH1):c.3936G>T (p.Trp1312Cys) rs1360926879
NM_000264.5(PTCH1):c.3943C>G (p.Pro1315Ala)
NM_000264.5(PTCH1):c.3944C>A (p.Pro1315His) rs357564
NM_000264.5(PTCH1):c.3944C>G (p.Pro1315Arg) rs357564
NM_000264.5(PTCH1):c.3944C>T (p.Pro1315Leu) rs357564
NM_000264.5(PTCH1):c.3949A>G (p.Arg1317Gly) rs1482005246
NM_000264.5(PTCH1):c.3953C>G (p.Pro1318Arg) rs536440590
NM_000264.5(PTCH1):c.3953C>T (p.Pro1318Leu) rs536440590
NM_000264.5(PTCH1):c.4014_4034del (p.Trp1339_Arg1345del) rs774819810
NM_000264.5(PTCH1):c.4033C>G (p.Arg1345Gly) rs556901417
NM_000264.5(PTCH1):c.4048C>G (p.Arg1350Gly) rs140417636
NM_000264.5(PTCH1):c.405A>G (p.Arg135=)
NM_000264.5(PTCH1):c.4069A>T (p.Met1357Leu) rs757909121
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=) rs62637631
NM_000264.5(PTCH1):c.40GGC[5] (p.Gly17dup) rs756897237
NM_000264.5(PTCH1):c.429T>A (p.Thr143=)
NM_000264.5(PTCH1):c.461A>G (p.Asn154Ser)
NM_000264.5(PTCH1):c.508C>G (p.Leu170Val) rs1841917213
NM_000264.5(PTCH1):c.52A>T (p.Ser18Cys)
NM_000264.5(PTCH1):c.571T>C (p.Tyr191His) rs1480028040
NM_000264.5(PTCH1):c.606G>T (p.Leu202Phe) rs769719333
NM_000264.5(PTCH1):c.70C>A (p.Pro24Thr)
NM_000264.5(PTCH1):c.747-5del
NM_000264.5(PTCH1):c.74G>C (p.Gly25Ala) rs774712511
NM_000264.5(PTCH1):c.763C>T (p.Arg255Trp) rs925067209
NM_000264.5(PTCH1):c.822A>G (p.Gln274=)
NM_000267.3(NF1):c.730+32dup rs71142032
NM_000280.4(PAX6):c.*3246_*3247insTTTT rs34919147
NM_000280.4(PAX6):c.*4599T>G rs185968715
NM_000284.4(PDHA1):c.*1013C>A rs1042456
NM_000284.4(PDHA1):c.*110C>T rs709610
NM_000284.4(PDHA1):c.*3_*13del (p.Ter391=) rs764728647
NM_000284.4(PDHA1):c.*525C>G rs778207227
NM_000284.4(PDHA1):c.1009-17_1009-14dup rs1569193999
NM_000284.4(PDHA1):c.1009-18C>T
NM_000284.4(PDHA1):c.1009-31_1009-15del
NM_000284.4(PDHA1):c.1157_*28dup (p.Phe386_Ter391=)
NM_000284.4(PDHA1):c.117+17T>G
NM_000284.4(PDHA1):c.1173_*5del (p.Ter391Xaa) rs762505127
NM_000284.4(PDHA1):c.58-18A>C
NM_000284.4(PDHA1):c.604-14G>A rs377192586
NM_000284.4(PDHA1):c.759+18GGGGCC[3]
NM_000284.4(PDHA1):c.759+21dup
NM_000284.4(PDHA1):c.759+26GGCCAA[2] rs11278403
NM_000284.4(PDHA1):c.759+26GGCCAA[4] rs11278403
NM_000284.4(PDHA1):c.759+34_759+45del rs11278403
NM_000284.4(PDHA1):c.760-14_760-13del
NM_000284.4(PDHA1):c.760-14dup
NM_000284.4(PDHA1):c.832-14C>T
NM_000284.4(PDHA1):c.900-18_900-14dup
NM_000284.4(PDHA1):c.900-8C>G
NM_000286.3(PEX12):c.*880_*883del rs35050283
NM_000286.3(PEX12):c.681-3_681-2del rs138568975
NM_000287.4(PEX6):c.*438TAAA[1] rs144286892
NM_000287.4(PEX6):c.1234-8_1234-7dup rs200121485
NM_000287.4(PEX6):c.235G>C (p.Ala79Pro) rs61752141
NM_000287.4(PEX6):c.969C>T (p.Ile323=) rs143001881
NM_000288.4(PEX7):c.-65A>T rs190537612
NM_000288.4(PEX7):c.-95T>C rs1321471
NM_000288.4(PEX7):c.131-9del rs760985736
NM_000288.4(PEX7):c.131-9dup
NM_000288.4(PEX7):c.527-6dup
NM_000288.4(PEX7):c.747+17del rs2115224706
NM_000288.4(PEX7):c.747+20_747+24del rs199624608
NM_000288.4(PEX7):c.748-5del rs563675060
NM_000288.4(PEX7):c.748-5dup rs563675060
NM_000288.4(PEX7):c.748-6_748-5dup
NM_000288.4(PEX7):c.904-10del
NM_000302.4(PLOD1):c.1903-14dup rs748794198
NM_000302.4(PLOD1):c.555G>T (p.Lys185Asn) rs142978362
NM_000302.4(PLOD1):c.577A>C (p.Arg193=) rs569590633
NM_000302.4(PLOD1):c.76+22del
NM_000302.4(PLOD1):c.77-3339C>T
NM_000308.4(CTSA):c.195-7dup rs780400265
NM_000308.4(CTSA):c.33GCT[6] (p.Leu18_Leu19del) rs72555383
NM_000308.4(CTSA):c.33GCT[7] (p.Leu19del) rs72555383
NM_000308.4(CTSA):c.33GCT[9] (p.Leu19dup) rs72555383
NM_000308.4(CTSA):c.693-11_693-9del rs560285370
NM_000308.4(CTSA):c.846T>C (p.Ala282=)
NM_000308.4(CTSA):c.870-15del rs3215446
NM_000308.4(CTSA):c.948+13G>T rs199925152
NM_000314.4(PTEN):c.-1085T>C rs869312983
NM_000314.6(PTEN):c.-903G>A rs1044322
NM_000314.8(PTEN):c.*75del rs878853930
NM_000314.8(PTEN):c.-284C>T rs552470098
NM_000314.8(PTEN):c.-511G>A rs12573787
NM_000314.8(PTEN):c.-512G>A rs886047387
NM_000314.8(PTEN):c.1027-11del
NM_000314.8(PTEN):c.164+19dup rs771776683
NM_000314.8(PTEN):c.210-16del rs1859918519
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.210-8del rs1554897849
NM_000314.8(PTEN):c.254-23C>T rs1396031556
NM_000314.8(PTEN):c.254-26A>T rs757177445
NM_000314.8(PTEN):c.254-29C>T rs753720712
NM_000314.8(PTEN):c.254-30dup rs77494260
NM_000314.8(PTEN):c.254-8dup rs767806773
NM_000314.8(PTEN):c.492+14del
NM_000314.8(PTEN):c.492+14dup rs1064793690
NM_000314.8(PTEN):c.493-12del
NM_000314.8(PTEN):c.493-12dup rs756623620
NM_000314.8(PTEN):c.577C>T (p.Leu193=) rs772631069
NM_000314.8(PTEN):c.802-3del rs34003473
NM_000314.8(PTEN):c.802-3dup rs34003473
NM_000314.8(PTEN):c.802-51_802-14del rs557364463
NM_000314.8(PTEN):c.802-5_802-3del rs34003473
NM_000316.3(PTH1R):c.*127dup rs142021243
NM_000316.3(PTH1R):c.178+28G>T rs724450
NM_000316.3(PTH1R):c.771C>A (p.Thr257=) rs201016660
NM_000325.6(PITX2):c.*340A>G rs551209662
NM_000325.6(PITX2):c.224A>C (p.Gln75Pro) rs201628949
NM_000335.5(SCN5A):c.*962T>A rs4073797
NM_000335.5(SCN5A):c.1715C>A (p.Ala572Asp) rs36210423
NM_000335.5(SCN5A):c.5848G>T (p.Val1950Leu) rs41315493
NM_000335.5(SCN5A):c.6007T>G (p.Phe2003Val) rs41311117
NM_000346.4(SOX9):c.*1989del rs11448561
NM_000346.4(SOX9):c.1023GCC[4] (p.Pro346dup) rs776337541
NM_000346.4(SOX9):c.1058C>A (p.Pro353Gln) rs762041707
NM_000346.4(SOX9):c.1060C>T (p.Pro354Ser)
NM_000346.4(SOX9):c.1061_1069del (p.Pro354_Pro356del) rs761585795
NM_000346.4(SOX9):c.1081C>A (p.Gln361Lys)
NM_000346.4(SOX9):c.1099C>G (p.Pro367Ala)
NM_000346.4(SOX9):c.1419G>A (p.Gln473=)
NM_000346.4(SOX9):c.1435C>T (p.Pro479Ser)
NM_000346.4(SOX9):c.201C>G (p.Asp67Glu)
NM_000346.4(SOX9):c.372G>C (p.Ala124=) rs745780363
NM_000346.4(SOX9):c.431+17del
NM_000346.4(SOX9):c.504C>T (p.Asp168=)
NM_000346.4(SOX9):c.673G>A (p.Gly225Ser)
NM_000346.4(SOX9):c.875A>C (p.Asn292Thr)
NM_000346.4(SOX9):c.902A>G (p.Asn301Ser)
NM_000348.4(SRD5A2):c.264C>G (p.Cys88Trp) rs867198056
NM_000348.4(SRD5A2):c.548-13C>T rs563086989
NM_000348.4(SRD5A2):c.698+7T>G
NM_000348.4(SRD5A2):c.90dup (p.Ser31fs) rs142200057
NM_000348.4(SRD5A2):c.92C>T (p.Ser31Phe)
NM_000348.4(SRD5A2):c.94G>A (p.Gly32Ser)
NM_000368.5(TSC1):c.*1507G>A rs739441
NM_000368.5(TSC1):c.*198T>C rs7037703
NM_000368.5(TSC1):c.*289del rs11323835
NM_000368.5(TSC1):c.*295C>G rs113549339
NM_000368.5(TSC1):c.*4763T>C rs79470094
NM_000368.5(TSC1):c.2626-4del rs5901000
NM_000368.5(TSC1):c.2626-5_2626-4del rs5901000
NM_000368.5(TSC1):c.2626-5_2626-4dup rs5901000
NM_000393.5(COL5A2):c.1021C>T (p.Pro341Ser) rs538602187
NM_000393.5(COL5A2):c.1081A>G (p.Met361Val) rs76148000
NM_000393.5(COL5A2):c.1216G>A (p.Glu406Lys)
NM_000393.5(COL5A2):c.1455+6G>A rs113512079
NM_000393.5(COL5A2):c.1491C>A (p.Pro497=) rs570269920
NM_000393.5(COL5A2):c.1515C>T (p.Pro505=)
NM_000393.5(COL5A2):c.1524C>T (p.Asp508=)
NM_000393.5(COL5A2):c.16G>A (p.Ala6Thr)
NM_000393.5(COL5A2):c.1717-9dup
NM_000393.5(COL5A2):c.1818A>G (p.Gly606=)
NM_000393.5(COL5A2):c.1869+12G>A
NM_000393.5(COL5A2):c.1900A>C (p.Asn634His)
NM_000393.5(COL5A2):c.2086-12del rs5837121
NM_000393.5(COL5A2):c.2086-13_2086-12del rs5837121
NM_000393.5(COL5A2):c.2086-13_2086-12dup
NM_000393.5(COL5A2):c.2086-23dup rs5837121
NM_000393.5(COL5A2):c.2291C>T (p.Pro764Leu) rs150260969
NM_000393.5(COL5A2):c.233A>G (p.Asp78Gly)
NM_000393.5(COL5A2):c.2507G>C (p.Arg836Pro) rs751683516
NM_000393.5(COL5A2):c.2534T>C (p.Val845Ala)
NM_000393.5(COL5A2):c.2661+20G>T rs79623676
NM_000393.5(COL5A2):c.2721T>A (p.Ala907=)
NM_000393.5(COL5A2):c.2770-15del rs577038385
NM_000393.5(COL5A2):c.2793C>T (p.Pro931=)
NM_000393.5(COL5A2):c.2867G>A (p.Arg956Gln)
NM_000393.5(COL5A2):c.2867G>C (p.Arg956Pro) rs6434313
NM_000393.5(COL5A2):c.2884C>T (p.Pro962Ser)
NM_000393.5(COL5A2):c.3061C>A (p.Pro1021Thr)
NM_000393.5(COL5A2):c.3310-19dup rs767565265
NM_000393.5(COL5A2):c.3363+17del
NM_000393.5(COL5A2):c.3497C>G (p.Ala1166Gly)
NM_000393.5(COL5A2):c.414A>T (p.Gly138=)
NM_000393.5(COL5A2):c.539C>A (p.Ser180Tyr)
NM_000393.5(COL5A2):c.552C>T (p.Pro184=) rs548352939
NM_000393.5(COL5A2):c.799-15dup rs1169314276
NM_000393.5(COL5A2):c.961-11dup rs542134887
NM_000393.5(COL5A2):c.961-3del rs542134887
NM_000404.4(GLB1):c.-37C>G rs115554377
NM_000404.4(GLB1):c.1143+14del rs376544604
NM_000404.4(GLB1):c.1143+14dup rs376544604
NM_000404.4(GLB1):c.1209C>G (p.Pro403=) rs528690108
NM_000404.4(GLB1):c.1348-5dup
NM_000404.4(GLB1):c.458-13del
NM_000404.4(GLB1):c.734-99G>T rs72856120
NM_000404.4(GLB1):c.76-16del
NM_000404.4(GLB1):c.792+10G>T rs79518579
NM_000404.4(GLB1):c.792+18G>A rs202068250
NM_000404.4(GLB1):c.793-14dup rs943395100
NM_000414.4(HSD17B4):c.*250dup rs34381335
NM_000414.4(HSD17B4):c.-27G>C rs34604765
NM_000414.4(HSD17B4):c.-75C>G rs26180
NM_000414.4(HSD17B4):c.1209+17del
NM_000414.4(HSD17B4):c.1209+17dup
NM_000414.4(HSD17B4):c.1210-17del rs781059702
NM_000414.4(HSD17B4):c.1334-4del rs2126813978
NM_000414.4(HSD17B4):c.1471G>A (p.Ala491Thr) rs28943591
NM_000414.4(HSD17B4):c.1503+16dup
NM_000414.4(HSD17B4):c.1503+22del
NM_000414.4(HSD17B4):c.1670A>C (p.Lys557Thr)
NM_000414.4(HSD17B4):c.1767+18del
NM_000414.4(HSD17B4):c.302+23del
NM_000414.4(HSD17B4):c.715-13dup
NM_000414.4(HSD17B4):c.739+20dup
NM_000414.4(HSD17B4):c.972+15del rs763801604
NM_000421.5(KRT10):c.1654_1683dup (p.Gly556_Gly565dup) rs776920005
NM_000428.3(LTBP2):c.110G>T (p.Arg37Met) rs934996
NM_000431.4(MVK):c.*58dup rs397714540
NM_000431.4(MVK):c.677+12del rs774948892
NM_000431.4(MVK):c.780C>A (p.Ile260=) rs34975996
NM_000434.4(NEU1):c.*210T>A rs13118
NM_000435.3(NOTCH3):c.5913+45T>C rs4809028
NM_000466.3(PEX1):c.1077G>A (p.Lys359=) rs138905930
NM_000466.3(PEX1):c.1142C>A (p.Ala381Asp) rs73404416
NM_000466.3(PEX1):c.1239+15del
NM_000466.3(PEX1):c.1240-10del rs1298492061
NM_000466.3(PEX1):c.1434T>G (p.Leu478=) rs757668497
NM_000466.3(PEX1):c.1671-5dup rs1792230930
NM_000466.3(PEX1):c.1804-12A>T rs143041528
NM_000466.3(PEX1):c.2417-17dup
NM_000466.3(PEX1):c.2417-7del
NM_000466.3(PEX1):c.2583+15dup rs761003048
NM_000466.3(PEX1):c.2584-10T>C rs375129444
NM_000466.3(PEX1):c.2584-10del rs5885806
NM_000466.3(PEX1):c.2584-11_2584-10del rs5885806
NM_000466.3(PEX1):c.2584-21_2584-20dup rs5885806
NM_000466.3(PEX1):c.2584-21dup rs5885806
NM_000466.3(PEX1):c.2927-14_2927-13del rs765202366
NM_000466.3(PEX1):c.2927-19dup
NM_000466.3(PEX1):c.3637-8del rs775743560
NM_000466.3(PEX1):c.3637-8dup rs775743560
NM_000466.3(PEX1):c.3768-4dup rs1459472276
NM_000466.3(PEX1):c.468A>G (p.Gln156=) rs149729088
NM_000474.4(TWIST1):c.256_276dup (p.Gly86_Gly92dup) rs544465774
NM_000474.4(TWIST1):c.259_276del (p.Ala87_Gly92del) rs544465774
NM_000474.4(TWIST1):c.260_274dup (p.Ala87_Gly91dup) rs760471055
NM_000474.4(TWIST1):c.489C>G (p.Leu163=)
NM_000475.5(NR0B1):c.1040C>A (p.Ala347Glu)
NM_000475.5(NR0B1):c.1168+10C>G
NM_000475.5(NR0B1):c.1170C>T (p.Asp390=)
NM_000475.5(NR0B1):c.1188C>T (p.Cys396=)
NM_000475.5(NR0B1):c.1359C>T (p.Ile453=)
NM_000475.5(NR0B1):c.162G>C (p.Leu54=)
NM_000475.5(NR0B1):c.174G>A (p.Arg58=)
NM_000475.5(NR0B1):c.255G>A (p.Thr85=)
NM_000475.5(NR0B1):c.353C>T (p.Ala118Val)
NM_000475.5(NR0B1):c.543A>C (p.Pro181=)
NM_000475.5(NR0B1):c.725C>T (p.Ala242Val)
NM_000475.5(NR0B1):c.740C>T (p.Ala247Val)
NM_000475.5(NR0B1):c.744C>G (p.Leu248=)
NM_000475.5(NR0B1):c.759G>C (p.Val253=)
NM_000475.5(NR0B1):c.798G>C (p.Leu266=)
NM_000475.5(NR0B1):c.973C>T (p.Arg325Trp)
NM_000475.5(NR0B1):c.979G>A (p.Glu327Lys)
NM_000475.5(NR0B1):c.984C>G (p.Thr328=)
NM_000475.5(NR0B1):c.994G>C (p.Glu332Gln)
NM_000478.6(ALPL):c.*65C>A rs1697405
NM_000478.6(ALPL):c.*65C>T rs1697405
NM_000478.6(ALPL):c.472+12del rs35423948
NM_000478.6(ALPL):c.534C>T (p.Tyr178=) rs201250289
NM_000485.3(APRT):c.*178A>G rs4695
NM_000489.6(ATRX):c.1017A>G (p.Val339=)
NM_000489.6(ATRX):c.105T>A (p.Pro35=)
NM_000489.6(ATRX):c.1078A>G (p.Ile360Val)
NM_000489.6(ATRX):c.1101C>T (p.Asn367=)
NM_000489.6(ATRX):c.1164A>G (p.Lys388=)
NM_000489.6(ATRX):c.1186A>C (p.Lys396Gln) rs2071415045
NM_000489.6(ATRX):c.1212G>C (p.Lys404Asn) rs2071413817
NM_000489.6(ATRX):c.1230A>G (p.Glu410=)
NM_000489.6(ATRX):c.1297A>G (p.Lys433Glu) rs898727479
NM_000489.6(ATRX):c.1311T>G (p.Ala437=)
NM_000489.6(ATRX):c.1384G>C (p.Ala462Pro) rs201503118
NM_000489.6(ATRX):c.1430A>G (p.Asn477Ser)
NM_000489.6(ATRX):c.1516C>T (p.Pro506Ser) rs1449091873
NM_000489.6(ATRX):c.1566C>G (p.Ser522=)
NM_000489.6(ATRX):c.1627G>C (p.Asp543His)
NM_000489.6(ATRX):c.180C>T (p.Ser60=) rs2072319089
NM_000489.6(ATRX):c.1846A>G (p.Lys616Glu) rs2071363928
NM_000489.6(ATRX):c.1856G>A (p.Gly619Asp)
NM_000489.6(ATRX):c.20+12C>T
NM_000489.6(ATRX):c.2023T>G (p.Ser675Ala)
NM_000489.6(ATRX):c.21-6dup
NM_000489.6(ATRX):c.2262T>G (p.Ile754Met) rs1557140015
NM_000489.6(ATRX):c.2268A>G (p.Glu756=)
NM_000489.6(ATRX):c.2429C>A (p.Thr810Asn) rs2148598084
NM_000489.6(ATRX):c.2493T>G (p.Ile831Met)
NM_000489.6(ATRX):c.2571A>C (p.Lys857Asn)
NM_000489.6(ATRX):c.2580G>T (p.Met860Ile)
NM_000489.6(ATRX):c.2585A>C (p.Asn862Thr)
NM_000489.6(ATRX):c.2595C>G (p.His865Gln) rs61752455
NM_000489.6(ATRX):c.2664C>G (p.Phe888Leu)
NM_000489.6(ATRX):c.2681C>T (p.Thr894Ile) rs2148591370
NM_000489.6(ATRX):c.2698A>G (p.Thr900Ala)
NM_000489.6(ATRX):c.2802G>A (p.Leu934=)
NM_000489.6(ATRX):c.2970A>G (p.Glu990=) rs782253066
NM_000489.6(ATRX):c.3040G>A (p.Asp1014Asn)
NM_000489.6(ATRX):c.3071A>C (p.Glu1024Ala)
NM_000489.6(ATRX):c.3090G>A (p.Lys1030=)
NM_000489.6(ATRX):c.3105T>A (p.Ile1035=)
NM_000489.6(ATRX):c.3124G>A (p.Gly1042Arg)
NM_000489.6(ATRX):c.3222T>G (p.Cys1074Trp)
NM_000489.6(ATRX):c.3265A>G (p.Arg1089Gly)
NM_000489.6(ATRX):c.3342A>G (p.Lys1114=)
NM_000489.6(ATRX):c.3408A>G (p.Glu1136=)
NM_000489.6(ATRX):c.3437C>T (p.Thr1146Ile)
NM_000489.6(ATRX):c.351T>C (p.Thr117=)
NM_000489.6(ATRX):c.3603A>G (p.Thr1201=)
NM_000489.6(ATRX):c.3612T>A (p.Ser1204=)
NM_000489.6(ATRX):c.3624AGA[1] (p.Glu1209del)
NM_000489.6(ATRX):c.3682C>T (p.Pro1228Ser)
NM_000489.6(ATRX):c.3737-9dup
NM_000489.6(ATRX):c.3810-20del
NM_000489.6(ATRX):c.3810-20dup
NM_000489.6(ATRX):c.3983C>A (p.Ser1328Tyr) rs930261155
NM_000489.6(ATRX):c.4004G>T (p.Arg1335Ile) rs1569536694
NM_000489.6(ATRX):c.4027C>T (p.His1343Tyr)
NM_000489.6(ATRX):c.4076A>G (p.Lys1359Arg)
NM_000489.6(ATRX):c.4097T>A (p.Val1366Asp)
NM_000489.6(ATRX):c.4105A>G (p.Arg1369Gly)
NM_000489.6(ATRX):c.4188C>T (p.Ser1396=)
NM_000489.6(ATRX):c.4214+18del
NM_000489.6(ATRX):c.4214+19A>T
NM_000489.6(ATRX):c.4293A>G (p.Gln1431=)
NM_000489.6(ATRX):c.4329G>T (p.Glu1443Asp)
NM_000489.6(ATRX):c.4372G>A (p.Glu1458Lys)
NM_000489.6(ATRX):c.4558-8del
NM_000489.6(ATRX):c.4956+12del
NM_000489.6(ATRX):c.5379C>T (p.Thr1793=)
NM_000489.6(ATRX):c.5472A>C (p.Thr1824=)
NM_000489.6(ATRX):c.5566+5A>C rs782212670
NM_000489.6(ATRX):c.5698-19G>A
NM_000489.6(ATRX):c.5698-7del rs781820607
NM_000489.6(ATRX):c.5698-7dup rs781820607
NM_000489.6(ATRX):c.5786+19C>T
NM_000489.6(ATRX):c.5787-24GTTT[4] rs782072699
NM_000489.6(ATRX):c.5787-24GTTT[6] rs782072699
NM_000489.6(ATRX):c.5957-15A>G
NM_000489.6(ATRX):c.5968TCT[2] (p.Ser1992del) rs782391479
NM_000489.6(ATRX):c.6026C>G (p.Ala2009Gly) rs1557082359
NM_000489.6(ATRX):c.6110+12A>G
NM_000489.6(ATRX):c.6111-9dup rs1557079294
NM_000489.6(ATRX):c.6504+17C>A
NM_000489.6(ATRX):c.654A>G (p.Glu218=) rs782378258
NM_000489.6(ATRX):c.6555G>T (p.Leu2185=) rs781823496
NM_000489.6(ATRX):c.6659C>T (p.Ser2220Leu)
NM_000489.6(ATRX):c.6850-9dup
NM_000489.6(ATRX):c.6896C>T (p.Pro2299Leu)
NM_000489.6(ATRX):c.7017A>G (p.Thr2339=)
NM_000489.6(ATRX):c.7071+16A>G
NM_000489.6(ATRX):c.711T>C (p.Asn237=) rs782710787
NM_000489.6(ATRX):c.7175A>G (p.Asn2392Ser)
NM_000489.6(ATRX):c.7335C>A (p.Ile2445=)
NM_000489.6(ATRX):c.7336A>C (p.Met2446Leu)
NM_000489.6(ATRX):c.7350C>G (p.Asn2450Lys) rs2147648778
NM_000489.6(ATRX):c.7432C>T (p.Pro2478Ser) rs199543136
NM_000489.6(ATRX):c.7436T>C (p.Met2479Thr)
NM_000492.4(CFTR):c.*133del rs145697705
NM_000492.4(CFTR):c.1210-34TG[12] rs3832534
NM_000493.4(COL10A1):c.*6_*7insCCC rs140722
NM_000493.4(COL10A1):c.773G>A (p.Arg258Gln) rs144479322
NM_000501.4(ELN):c.*636G>A rs533779578
NM_000501.4(ELN):c.*659G>C rs8326
NM_000501.4(ELN):c.1096+12TG[16] rs10579871
NM_000501.4(ELN):c.1096+12TG[17] rs10579871
NM_000501.4(ELN):c.1096+12TG[18] rs10579871
NM_000501.4(ELN):c.1096+12TG[20] rs10579871
NM_000501.4(ELN):c.1096+12TG[21] rs10579871
NM_000501.4(ELN):c.1096+12TG[22] rs10579871
NM_000501.4(ELN):c.1131T>C (p.Ala377=)
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser) rs2071307
NM_000501.4(ELN):c.1269C>T (p.Val423=) rs61734583
NM_000501.4(ELN):c.133+16C>A rs144223231
NM_000501.4(ELN):c.134-19T>C rs535249280
NM_000501.4(ELN):c.134-5C>A rs202142516
NM_000501.4(ELN):c.134-5dup
NM_000501.4(ELN):c.1414+11del
NM_000501.4(ELN):c.1464_1517del (p.Leu497_Gly514del) rs1563852165
NM_000501.4(ELN):c.1741G>C (p.Gly581Arg) rs17855988
NM_000501.4(ELN):c.1748-20C>T
NM_000501.4(ELN):c.1819G>C (p.Gly607Arg) rs781963804
NM_000501.4(ELN):c.328G>A (p.Ala110Thr) rs137953195
NM_000501.4(ELN):c.571+19G>A
NM_000501.4(ELN):c.924A>T (p.Ala308=) rs539451717
NM_000501.4(ELN):c.949+8_949+19del
NM_000503.6(EYA1):c.*1310G>A rs147323889
NM_000503.6(EYA1):c.*509_*512del rs146202037
NM_000503.6(EYA1):c.-340G>T rs55997623
NM_000503.6(EYA1):c.-47C>A rs760164698
NM_000503.6(EYA1):c.121G>C (p.Glu41Gln) rs561111097
NM_000503.6(EYA1):c.1475+15G>A rs373917012
NM_000503.6(EYA1):c.147C>T (p.Ser49=)
NM_000503.6(EYA1):c.1597+18del
NM_000503.6(EYA1):c.1598-15A>G rs372286227
NM_000503.6(EYA1):c.1598-19ATTT[3]
NM_000503.6(EYA1):c.1701C>T (p.His567=) rs763080811
NM_000503.6(EYA1):c.702G>A (p.Pro234=)
NM_000505.4(F12):c.1251-9C>T rs17876032
NM_000512.5(GALNS):c.1139+20del
NM_000512.5(GALNS):c.120+13G>A
NM_000512.5(GALNS):c.121-17C>T
NM_000512.5(GALNS):c.143T>C (p.Val48Ala) rs191519947
NM_000512.5(GALNS):c.244+14del
NM_000512.5(GALNS):c.426T>C (p.His142=)
NM_000512.5(GALNS):c.633+13G>C rs200292757
NM_000512.5(GALNS):c.633+9del
NM_000512.5(GALNS):c.759-16del
NM_000514.4(GDNF):c.*2643C>T rs146664109
NM_000522.5(HOXA13):c.496C>A (p.Pro166Thr) rs34398255
NM_000525.4(KCNJ11):c.*62G>A rs5213
NM_000528.4(MAN2B1):c.1027-6del rs1384911711
NM_000528.4(MAN2B1):c.1231-13C>T rs372848519
NM_000528.4(MAN2B1):c.1528-11del rs2145253449
NM_000528.4(MAN2B1):c.1645-195C>A
NM_000528.4(MAN2B1):c.1850A>G (p.Asp617Gly) rs370382032
NM_000528.4(MAN2B1):c.2267+8del
NM_000528.4(MAN2B1):c.2267+8dup rs572289342
NM_000528.4(MAN2B1):c.2355+20C>T
NM_000528.4(MAN2B1):c.262+17del
NM_000528.4(MAN2B1):c.2665-165G>C rs2145222928
NM_000528.4(MAN2B1):c.2665-17del
NM_000528.4(MAN2B1):c.2923+19dup
NM_000528.4(MAN2B1):c.935C>A (p.Thr312Asn) rs1054487
NM_000528.4(MAN2B1):c.935C>T (p.Thr312Ile) rs1054487
NM_000540.3(RYR1):c.1672+29G>C rs2288889
NM_000540.3(RYR1):c.631+39dup rs35018208
NM_000540.3(RYR1):c.8068-29_8068-27del rs796750554
NM_000540.3(RYR1):c.8932+34dup rs5828009
NM_000553.6(WRN):c.1247A>G (p.Asp416Gly) rs560922465
NM_000553.6(WRN):c.1432-11del
NM_000553.6(WRN):c.16T>C (p.Leu6=) rs202148988
NM_000553.6(WRN):c.1721-10dup
NM_000553.6(WRN):c.1898+15del rs1813762165
NM_000553.6(WRN):c.1982-13del
NM_000553.6(WRN):c.1982-5del rs397723919
NM_000553.6(WRN):c.1982-6_1982-5del rs397723919
NM_000553.6(WRN):c.2089-12del
NM_000553.6(WRN):c.210-11dup rs2130031812
NM_000553.6(WRN):c.2630+10dup rs747115098
NM_000553.6(WRN):c.2733-12del
NM_000553.6(WRN):c.2826-7del
NM_000553.6(WRN):c.3139-12del
NM_000553.6(WRN):c.3139-6dup
NM_000553.6(WRN):c.3233+20del
NM_000553.6(WRN):c.3233+20dup rs758713751
NM_000553.6(WRN):c.3234-130T>C rs2725364
NM_000553.6(WRN):c.3234-13dup rs1802686931
NM_000553.6(WRN):c.3384-12del
NM_000553.6(WRN):c.3460-7dup
NM_000553.6(WRN):c.356-9dup rs2130035725
NM_000553.6(WRN):c.3687+6dup
NM_000553.6(WRN):c.3983-12del
NM_000553.6(WRN):c.3983-12dup rs368931913
NM_000553.6(WRN):c.4180A>G (p.Ile1394Val) rs545431480
NM_000553.6(WRN):c.655-5dup
NM_000553.6(WRN):c.725-4dup
NM_000553.6(WRN):c.725-9T>C rs1060503821
NM_000553.6(WRN):c.725-9del rs543830844
NM_000553.6(WRN):c.839+25del rs370040831
NM_000553.6(WRN):c.840-3del rs753661471
NM_000553.6(WRN):c.840-3dup rs753661471
NM_000553.6(WRN):c.840-4_840-3dup
NM_000557.5(GDF5):c.1000C>G (p.Arg334Gly) rs140895068
NM_000685.5(AGTR1):c.*437G>T rs5189
NM_000719.7(CACNA1C):c.*5421del rs10713809
NM_000719.7(CACNA1C):c.*652_*659GCC[2]GGGAAGGGGCCGCCGG[1] rs71057834
NM_000719.7(CACNA1C):c.1390+236G>A rs2239099
NM_000719.7(CACNA1C):c.1482-10del rs748091873
NM_000719.7(CACNA1C):c.1557C>A (p.Ala519=) rs186720824
NM_000719.7(CACNA1C):c.1895+15del
NM_000719.7(CACNA1C):c.2224+22del rs2153225497
NM_000719.7(CACNA1C):c.2224+78T>G rs3751254
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del) rs575583988
NM_000719.7(CACNA1C):c.2794-5del rs1555860850
NM_000719.7(CACNA1C):c.3157-328G>T rs215991
NM_000719.7(CACNA1C):c.3356+561C>A rs113442303
NM_000719.7(CACNA1C):c.340C>A (p.Arg114=) rs758229132
NM_000719.7(CACNA1C):c.3678C>T (p.Phe1226=) rs775309900
NM_000719.7(CACNA1C):c.3828+177G>A rs114441162
NM_000719.7(CACNA1C):c.4074+33del rs34428885
NM_000719.7(CACNA1C):c.4140+77G>T rs114714957
NM_000719.7(CACNA1C):c.4726+73dup rs3834937
NM_000719.7(CACNA1C):c.477+116797C>T rs2159100
NM_000719.7(CACNA1C):c.49+255G>A rs11062092
NM_000719.7(CACNA1C):c.4957-222G>C rs2302730
NM_000719.7(CACNA1C):c.5214C>A (p.Gly1738=) rs199538058
NM_000719.7(CACNA1C):c.5214C>T (p.Gly1738=) rs199538058
NM_000719.7(CACNA1C):c.5354C>T (p.Pro1785Leu)
NM_000719.7(CACNA1C):c.5408G>C (p.Arg1803Pro) rs201918158
NM_000719.7(CACNA1C):c.5680+11C>T rs66611965
NM_000719.7(CACNA1C):c.5680+12G>A rs761437891
NM_000719.7(CACNA1C):c.5706A>G (p.Glu1902=) rs537002656
NM_000719.7(CACNA1C):c.5917C>G (p.Arg1973Gly) rs774402582
NM_000719.7(CACNA1C):c.5917C>T (p.Arg1973Trp) rs774402582
NM_000719.7(CACNA1C):c.617+194G>A rs4765933
NM_000719.7(CACNA1C):c.758-259A>C rs887001
NM_000751.3(CHRND):c.*547G>C rs2343841
NM_000751.3(CHRND):c.199-90_199-89insAAGA rs113930536
NM_000751.3(CHRND):c.267G>C (p.Lys89Asn) rs545298641
NM_000789.4(ACE):c.*728CT[3] rs4366
NM_000789.4(ACE):c.1341G>C (p.Thr447=) rs34241302
NM_000789.4(ACE):c.2518C>A (p.Arg840=) rs3730036
NM_000789.4(ACE):c.3856C>A (p.Arg1286Ser) rs4364
NM_000890.5(KCNJ5):c.*378dup rs397799938
NM_000890.5(KCNJ5):c.*861GTTTT[7] rs36205004
NM_000890.5(KCNJ5):c.1231G>A (p.Gly411Arg)
NM_000890.5(KCNJ5):c.144G>A (p.Lys48=)
NM_000891.3(KCNJ2):c.*1678dup rs145779709
NM_000891.3(KCNJ2):c.*640GTT[4] rs397705636
NM_000891.3(KCNJ2):c.1254C>G (p.Pro418=) rs748445140
NM_000900.5(MGP):c.*755G>T rs142773584
NM_000900.5(MGP):c.62-18dup rs11393307
NM_000925.4(PDHB):c.*92C>A rs4228
NM_000925.4(PDHB):c.700+9del
NM_000965.5(RARB):c.158-9C>G rs78470280
NM_000965.5(RARB):c.991+11T>C
NM_001001433.3(STX16):c.*1747G>C rs140662326
NM_001001433.3(STX16):c.*2627G>C rs76626612
NM_001001433.3(STX16):c.*2962C>T rs192204838
NM_001001433.3(STX16):c.-464G>A rs41296203
NM_001001433.3(STX16):c.106C>A (p.Pro36Thr) rs142560013
NM_001001433.3(STX16):c.540G>A (p.Gln180=) rs2296524
NM_001002755.4(NFU1):c.302+15dup
NM_001002755.4(NFU1):c.303-13dup rs372898848
NM_001003722.2(GLE1):c.*907G>C rs55823126
NM_001003722.2(GLE1):c.1242+30G>T rs869455
NM_001005498.4(RHBDF2):c.*331dup rs58073681
NM_001005498.4(RHBDF2):c.*551G>A rs2289801
NM_001005498.4(RHBDF2):c.*551G>C rs2289801
NM_001005498.4(RHBDF2):c.*551G>T rs2289801
NM_001005498.4(RHBDF2):c.1380C>A (p.Arg460=) rs34005184
NM_001005498.4(RHBDF2):c.1639-11C>G rs141461044
NM_001005498.4(RHBDF2):c.319C>T (p.Arg107Trp) rs372953205
NM_001010867.4(IBA57):c.680-15del
NM_001011658.4(TRAPPC2):c.*1303del rs35590746
NM_001011658.4(TRAPPC2):c.*1436C>G rs192328990
NM_001011658.4(TRAPPC2):c.*2104TG[4] rs199924403
NM_001011658.4(TRAPPC2):c.*956_*957insTTTTTTTT rs57103709
NM_001011658.4(TRAPPC2):c.308A>G (p.Tyr103Cys)
NM_001015880.2(PAPSS2):c.145+14AT[10] rs72025574
NM_001015880.2(PAPSS2):c.145+14AT[6] rs72025574
NM_001015880.2(PAPSS2):c.145+14AT[7] rs72025574
NM_001015880.2(PAPSS2):c.145+14AT[8] rs72025574
NM_001015880.2(PAPSS2):c.381+20_381+24dup rs367885911
NM_001015880.2(PAPSS2):c.381+24del rs367885911
NM_001015880.2(PAPSS2):c.612C>T (p.His204=)
NM_001015880.2(PAPSS2):c.865+17G>A rs2302405
NM_001018005.2(TPM1):c.*30_*31insATTTT rs2141012766
NM_001018113.3(FANCB):c.1105-26TATT[4] rs398123537
NM_001018113.3(FANCB):c.1105-26TATT[7] rs398123537
NM_001018113.3(FANCB):c.1197+19_1197+21del rs755825913
NM_001018113.3(FANCB):c.1234C>T (p.Leu412=)
NM_001018113.3(FANCB):c.1326+13A>G
NM_001018113.3(FANCB):c.1327-12dup rs202067682
NM_001018113.3(FANCB):c.1327-3del rs202067682
NM_001018113.3(FANCB):c.1373A>G (p.His458Arg)
NM_001018113.3(FANCB):c.153C>T (p.Asp51=)
NM_001018113.3(FANCB):c.1581G>T (p.Val527=)
NM_001018113.3(FANCB):c.1614A>G (p.Pro538=)
NM_001018113.3(FANCB):c.1928-5del
NM_001018113.3(FANCB):c.1928-5dup
NM_001018113.3(FANCB):c.1928-6_1928-5del
NM_001018113.3(FANCB):c.2166-8del
NM_001018113.3(FANCB):c.2439A>G (p.Arg813=)
NM_001018113.3(FANCB):c.30C>A (p.Asn10Lys) rs750078094
NM_001018113.3(FANCB):c.702C>T (p.Ser234=)
NM_001018113.3(FANCB):c.706G>A (p.Val236Met) rs746389250
NM_001018113.3(FANCB):c.774C>G (p.Ala258=) rs1168908937
NM_001018113.3(FANCB):c.864A>G (p.Gln288=)
NM_001018113.3(FANCB):c.898G>A (p.Val300Ile)
NM_001018115.3(FANCD2):c.1135-25G>A rs201770712
NM_001018115.3(FANCD2):c.1137G>T (p.Val379=) rs72492997
NM_001018115.3(FANCD2):c.1170C>T (p.Ser390=) rs112887807
NM_001018115.3(FANCD2):c.1179T>C (p.Thr393=) rs72492998
NM_001018115.3(FANCD2):c.1214A>G (p.Asn405Ser) rs73126218
NM_001018115.3(FANCD2):c.1275C>T (p.Tyr425=) rs764447374
NM_001018115.3(FANCD2):c.1278+15C>T rs144167368
NM_001018115.3(FANCD2):c.1278+3_1278+5del rs375350046
NM_001018115.3(FANCD2):c.1401G>A (p.Thr467=) rs12330369
NM_001018115.3(FANCD2):c.1413+14T>C rs12330599
NM_001018115.3(FANCD2):c.1413+3A>G rs62245508
NM_001018115.3(FANCD2):c.1414-9C>T rs35557429
NM_001018115.3(FANCD2):c.1827+15del
NM_001018115.3(FANCD2):c.1827+15dup
NM_001018115.3(FANCD2):c.2103G>A (p.Pro701=) rs139033444
NM_001018115.3(FANCD2):c.2494+95C>A rs1575797993
NM_001018115.3(FANCD2):c.2494+97T>A rs1575797996
NM_001018115.3(FANCD2):c.2494+98C>A rs1575798002
NM_001018115.3(FANCD2):c.2606-11del
NM_001018115.3(FANCD2):c.273+12del rs758809407
NM_001018115.3(FANCD2):c.274-14del
NM_001018115.3(FANCD2):c.3777+83_3777+86del rs773716319
NM_001018115.3(FANCD2):c.378-6_378-5del rs55973240
NM_001024630.4(RUNX2):c.*2001G>A rs150354057
NM_001024630.4(RUNX2):c.*2712del rs398001404
NM_001024630.4(RUNX2):c.*3160G>T rs1200428
NM_001024630.4(RUNX2):c.*608del rs398001403
NM_001024630.4(RUNX2):c.-66-14G>T rs768238770
NM_001025295.3(IFITM5):c.120G>T (p.Ser40=) rs79625057
NM_001032386.2(SUOX):c.1281G>C (p.Ser427=) rs773115
NM_001032386.2(SUOX):c.1281G>T (p.Ser427=) rs773115
NM_001032386.2(SUOX):c.1636T>A (p.Ter546Arg) rs574353697
NM_001032386.2(SUOX):c.621C>T (p.Tyr207=) rs144469629
NM_001034852.3(SMOC1):c.126G>A (p.Gln42=) rs3742909
NM_001034852.3(SMOC1):c.858-27del rs139924326
NM_001039958.1(MESP2):c.535GGGCAGGGGCAA[2_4] rs397507446
NM_001039958.2(MESP2):c.197C>G (p.Ala66Gly) rs71647809
NM_001039958.2(MESP2):c.498C>A (p.Pro166=) rs200336355
NM_001039958.2(MESP2):c.498C>G (p.Pro166=) rs200336355
NM_001039958.2(MESP2):c.534GGGGCAGGGGCAAGGGCAGGGGCA[1] (p.180QG[9]) rs200021459
NM_001039958.2(MESP2):c.549_584del (p.180_181QG[7]) rs749710849
NM_001039958.2(MESP2):c.552GGGGCA[1] (p.180QG[11]) rs56192595
NM_001039958.2(MESP2):c.670T>C (p.Ser224Pro) rs118204033
NM_001040167.2(LFNG):c.1104G>A (p.Pro368=) rs544123371
NM_001040436.3(YARS2):c.*406C>T rs145618550
NM_001042475.3(CEP85L):c.-9T>C rs2115386642
NM_001042492.3(NF1):c.*2777C>T rs185015732
NM_001042492.3(NF1):c.*3514G>A rs574282086
NM_001042492.3(NF1):c.*585G>T rs372804411
NM_001042492.3(NF1):c.*859AT[7] rs369548314
NM_001042492.3(NF1):c.1021G>A (p.Val341Ile) rs1555610907
NM_001042492.3(NF1):c.1042T>C (p.Ser348Pro) rs864622064
NM_001042492.3(NF1):c.1186-13del rs763903212
NM_001042492.3(NF1):c.1186-6C>T rs200684215
NM_001042492.3(NF1):c.1186-7del
NM_001042492.3(NF1):c.1261-7del
NM_001042492.3(NF1):c.1310T>C (p.Val437Ala) rs876658642
NM_001042492.3(NF1):c.1393-3dup rs2143958470
NM_001042492.3(NF1):c.1527+14del rs772159080
NM_001042492.3(NF1):c.1527+14dup rs772159080
NM_001042492.3(NF1):c.1528-9del
NM_001042492.3(NF1):c.1528-9dup rs776722942
NM_001042492.3(NF1):c.1642-6dup rs2144003412
NM_001042492.3(NF1):c.1653T>A (p.Val551=) rs1060503902
NM_001042492.3(NF1):c.1721+19_1721+21del rs762735676
NM_001042492.3(NF1):c.1721+21del
NM_001042492.3(NF1):c.1721+21dup rs762735676
NM_001042492.3(NF1):c.1771C>G (p.Leu591Val) rs767247726
NM_001042492.3(NF1):c.1775G>A (p.Ser592Asn) rs760256377
NM_001042492.3(NF1):c.179C>G (p.Thr60Ser) rs1007047958
NM_001042492.3(NF1):c.1846-5dup rs779012139
NM_001042492.3(NF1):c.1910G>C (p.Ser637Thr) rs749745247
NM_001042492.3(NF1):c.1939C>T (p.His647Tyr) rs776251084
NM_001042492.3(NF1):c.1954C>T (p.Arg652Cys) rs786202436
NM_001042492.3(NF1):c.1966G>A (p.Ala656Thr) rs1555613598
NM_001042492.3(NF1):c.2001+22dup
NM_001042492.3(NF1):c.2015G>T (p.Gly672Val) rs371817372
NM_001042492.3(NF1):c.2023G>C (p.Gly675Arg) rs779546178
NM_001042492.3(NF1):c.2028C>G (p.Thr676=) rs878853873
NM_001042492.3(NF1):c.2032C>A (p.Pro678Thr) rs758691069
NM_001042492.3(NF1):c.205-8del rs2143645174
NM_001042492.3(NF1):c.2211A>T (p.Thr737=) rs1178560430
NM_001042492.3(NF1):c.2244G>A (p.Met748Ile) rs786202478
NM_001042492.3(NF1):c.2251+25del
NM_001042492.3(NF1):c.2251+25dup rs768340418
NM_001042492.3(NF1):c.2390C>T (p.Ala797Val) rs1181350360
NM_001042492.3(NF1):c.2409+23del
NM_001042492.3(NF1):c.241C>A (p.Leu81Ile) rs587782772
NM_001042492.3(NF1):c.2685G>T (p.Met895Ile)
NM_001042492.3(NF1):c.2851-21_2851-17del rs758020046
NM_001042492.3(NF1):c.2921A>G (p.Asn974Ser) rs557875547
NM_001042492.3(NF1):c.3145G>A (p.Val1049Ile) rs1060500343
NM_001042492.3(NF1):c.3197+9dup rs755212937
NM_001042492.3(NF1):c.3198-11_3198-4del rs371047262
NM_001042492.3(NF1):c.3198-4del rs371047262
NM_001042492.3(NF1):c.3198-4dup rs371047262
NM_001042492.3(NF1):c.3198-5_3198-4del rs371047262
NM_001042492.3(NF1):c.3198-5_3198-4dup rs371047262
NM_001042492.3(NF1):c.321G>A (p.Thr107=) rs786201731
NM_001042492.3(NF1):c.3315-10dup
NM_001042492.3(NF1):c.3383G>A (p.Gly1128Asp) rs1060500325
NM_001042492.3(NF1):c.3428A>G (p.His1143Arg) rs1555614965
NM_001042492.3(NF1):c.3571A>G (p.Thr1191Ala) rs1555615033
NM_001042492.3(NF1):c.3665C>T (p.Pro1222Leu)
NM_001042492.3(NF1):c.3709-14del
NM_001042492.3(NF1):c.378A>C (p.Glu126Asp) rs786201914
NM_001042492.3(NF1):c.3974+23A>T rs376217184
NM_001042492.3(NF1):c.3974+37_3974+38insG rs1555615580
NM_001042492.3(NF1):c.3975-12A>G rs750100751
NM_001042492.3(NF1):c.3975-5dup rs786202231
NM_001042492.3(NF1):c.3975-6_3975-5del rs786202231
NM_001042492.3(NF1):c.4000G>A (p.Glu1334Lys) rs878853892
NM_001042492.3(NF1):c.4010G>A (p.Arg1337Gln) rs1060500379
NM_001042492.3(NF1):c.4174-8_4174-6del rs751729752
NM_001042492.3(NF1):c.4360C>G (p.Leu1454Val) rs1408832954
NM_001042492.3(NF1):c.4378C>T (p.His1460Tyr) rs377295676
NM_001042492.3(NF1):c.4578-12dup rs1597748630
NM_001042492.3(NF1):c.464G>A (p.Ser155Asn) rs1555606113
NM_001042492.3(NF1):c.4725-3dup rs2151469976
NM_001042492.3(NF1):c.480-3dup rs2143706767
NM_001042492.3(NF1):c.5020G>A (p.Val1674Ile) rs1555533342
NM_001042492.3(NF1):c.5040T>C (p.Tyr1680=) rs1555533351
NM_001042492.3(NF1):c.5146G>A (p.Ala1716Thr) rs767469374
NM_001042492.3(NF1):c.5169A>T (p.Gln1723His) rs864622372
NM_001042492.3(NF1):c.5215G>C (p.Val1739Leu) rs876659956
NM_001042492.3(NF1):c.5221C>A (p.His1741Asn) rs780529277
NM_001042492.3(NF1):c.5299G>A (p.Ala1767Thr) rs529905904
NM_001042492.3(NF1):c.5517C>A (p.Ile1839=) rs865839207
NM_001042492.3(NF1):c.5601G>A (p.Pro1867=) rs766322878
NM_001042492.3(NF1):c.5609+11del
NM_001042492.3(NF1):c.5741C>A (p.Thr1914Lys) rs1555533873
NM_001042492.3(NF1):c.5812+18del rs2151545079
NM_001042492.3(NF1):c.5813-5del rs775451791
NM_001042492.3(NF1):c.5813-5dup rs775451791
NM_001042492.3(NF1):c.587-5dup rs759349569
NM_001042492.3(NF1):c.592G>A (p.Ala198Thr) rs1555608643
NM_001042492.3(NF1):c.5970A>G (p.Pro1990=) rs876658601
NM_001042492.3(NF1):c.61-23T>A
NM_001042492.3(NF1):c.61-4del rs551568608
NM_001042492.3(NF1):c.61-4dup rs551568608
NM_001042492.3(NF1):c.6147+8C>G rs182709912
NM_001042492.3(NF1):c.633A>G (p.Ala211=) rs876660800
NM_001042492.3(NF1):c.6642+26C>T
NM_001042492.3(NF1):c.6643-3dup rs35917458
NM_001042492.3(NF1):c.6691G>A (p.Glu2231Lys) rs1024484381
NM_001042492.3(NF1):c.6705-9del
NM_001042492.3(NF1):c.6705-9dup
NM_001042492.3(NF1):c.677A>C (p.Asn226Thr) rs770339628
NM_001042492.3(NF1):c.6781C>T (p.His2261Tyr) rs750869272
NM_001042492.3(NF1):c.6922-14_6922-13del rs146785663
NM_001042492.3(NF1):c.7012C>T (p.Leu2338Phe) rs1597848149
NM_001042492.3(NF1):c.7170G>C (p.Leu2390Phe) rs751081026
NM_001042492.3(NF1):c.7189+8dup rs753952604
NM_001042492.3(NF1):c.7190-33TTGT[3] rs149197458
NM_001042492.3(NF1):c.7190-33TTGT[7] rs149197458
NM_001042492.3(NF1):c.7190-5del rs769290414
NM_001042492.3(NF1):c.7262A>G (p.Asn2421Ser) rs774339063
NM_001042492.3(NF1):c.731-8del rs1438618408
NM_001042492.3(NF1):c.7322-9del rs2151574193
NM_001042492.3(NF1):c.7415C>G (p.Pro2472Arg) rs786202184
NM_001042492.3(NF1):c.7426T>C (p.Tyr2476His) rs864622745
NM_001042492.3(NF1):c.7446C>A (p.Asp2482Glu) rs876660614
NM_001042492.3(NF1):c.7447C>T (p.Pro2483Ser) rs1291550449
NM_001042492.3(NF1):c.7466A>G (p.Lys2489Arg) rs864622249
NM_001042492.3(NF1):c.7526C>T (p.Pro2509Leu) rs786202146
NM_001042492.3(NF1):c.7767G>C (p.Gln2589His) rs587782168
NM_001042492.3(NF1):c.7869+19del
NM_001042492.3(NF1):c.7870-13del rs369360556
NM_001042492.3(NF1):c.7870-13dup rs369360556
NM_001042492.3(NF1):c.7870-20A>G rs574898272
NM_001042492.3(NF1):c.7971-3del
NM_001042492.3(NF1):c.7971-8del rs564545012
NM_001042492.3(NF1):c.7971-8dup rs564545012
NM_001042492.3(NF1):c.8061T>C (p.Ser2687=) rs786202936
NM_001042492.3(NF1):c.8113+22del rs563852879
NM_001042492.3(NF1):c.8161-10del
NM_001042492.3(NF1):c.8206G>A (p.Asp2736Asn) rs1597870148
NM_001042492.3(NF1):c.8376A>C (p.Pro2792=) rs1028961967
NM_001042492.3(NF1):c.8378-7del
NM_001042492.3(NF1):c.8421C>A (p.His2807Gln) rs1326795798
NM_001042492.3(NF1):c.8479G>A (p.Ala2827Thr) rs199878086
NM_001042492.3(NF1):c.848A>G (p.Asp283Gly) rs878853921
NM_001042492.3(NF1):c.8497A>C (p.Asn2833His) rs786202863
NM_001042492.3(NF1):c.8511G>A (p.Lys2837=) rs752398289
NM_001042492.3(NF1):c.872A>C (p.Glu291Ala) rs876660171
NM_001042492.3(NF1):c.885T>A (p.Asn295Lys) rs864622300
NM_001042492.3(NF1):c.888+15del rs2143787260
NM_001042492.3(NF1):c.905G>A (p.Ser302Asn) rs786202746
NM_001042492.3(NF1):c.923C>G (p.Ala308Gly) rs876660836
NM_001042492.3(NF1):c.98A>G (p.Lys33Arg) rs1555604887
NM_001042545.2(LTBP4):c.*86C>T rs10424186
NM_001042545.2(LTBP4):c.2565C>T (p.Asp855=) rs2077407
NM_001042545.2(LTBP4):c.3035dup (p.Tyr1013fs) rs59030801
NM_001044385.3(TMEM237):c.1159+17del rs766664373
NM_001044385.3(TMEM237):c.1159+17dup
NM_001044385.3(TMEM237):c.678-20_678-17del rs754336127
NM_001044385.3(TMEM237):c.80-18dup rs747217784
NM_001044385.3(TMEM237):c.870-13_870-12del rs555284377
NM_001048166.1(STIL):c.*577G>A rs11211487
NM_001048166.1(STIL):c.1452C>G (p.Ser484=) rs10789505
NM_001064.4(TKT):c.1265-47G>C rs3736155
NM_001064.4(TKT):c.1697-49C>T rs3816767
NM_001077446.4(TSEN34):c.*1163C>G rs115093373
NM_001077446.4(TSEN34):c.*245A>C rs4042
NM_001077446.4(TSEN34):c.*385= rs1156850349
NM_001077446.4(TSEN34):c.*385A>C rs36622
NM_001077653.2(TBX20):c.655-44G>A rs2072434
NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn) rs58447305
NM_001079872.2(CUL4B):c.1030G>A (p.Ala344Thr)
NM_001079872.2(CUL4B):c.1107A>G (p.Gln369=)
NM_001079872.2(CUL4B):c.1143T>G (p.Ala381=)
NM_001079872.2(CUL4B):c.1164A>G (p.Gln388=)
NM_001079872.2(CUL4B):c.1257-9del rs746854249
NM_001079872.2(CUL4B):c.1257-9dup rs746854249
NM_001079872.2(CUL4B):c.1308A>G (p.Thr436=)
NM_001079872.2(CUL4B):c.1636+11C>T
NM_001079872.2(CUL4B):c.1637-13T>C
NM_001079872.2(CUL4B):c.1853-19G>A
NM_001079872.2(CUL4B):c.1939-19T>C
NM_001079872.2(CUL4B):c.2023A>G (p.Met675Val)
NM_001079872.2(CUL4B):c.2046+6A>C
NM_001079872.2(CUL4B):c.2161-15T>C rs183114462
NM_001079872.2(CUL4B):c.366C>T (p.Ser122=)
NM_001079872.2(CUL4B):c.519T>G (p.Pro173=)
NM_001079872.2(CUL4B):c.557-20A>G
NM_001079872.2(CUL4B):c.747C>T (p.His249=)
NM_001079872.2(CUL4B):c.776+7dup rs200461872
NM_001079872.2(CUL4B):c.819A>G (p.Arg273=)
NM_001079872.2(CUL4B):c.847-10del rs762094686
NM_001080414.4(CCDC88C):c.61-85T>C rs1285844
NM_001080432.3(FTO):c.*1380G>T rs113575052
NM_001080432.3(FTO):c.*1911del rs532852190
NM_001080432.3(FTO):c.*2362G>T rs45564131
NM_001080449.3(DNA2):c.1057+19del rs34922453
NM_001080449.3(DNA2):c.2697+13del rs370068890
NM_001081550.2(THOC2):c.769-20dup rs201356571
NM_001082486.2(ACD):c.743-3dup rs1369632476
NM_001082538.3(TCTN1):c.1636-18TC[2] rs201913681
NM_001082538.3(TCTN1):c.221-7dup rs768471137
NM_001082538.3(TCTN1):c.473-10del rs771463400
NM_001082538.3(TCTN1):c.473-10dup rs771463400
NM_001082538.3(TCTN1):c.473-4dup
NM_001082538.3(TCTN1):c.473-6_473-4del rs10577377
NM_001083614.2(EARS2):c.*380_*384del rs3071379
NM_001083614.2(EARS2):c.*535del rs11300207
NM_001083961.2(WDR62):c.1233+11C>A rs116050630
NM_001083961.2(WDR62):c.1233+13C>T rs76130844
NM_001083961.2(WDR62):c.1315T>G (p.Phe439Val) rs75230537
NM_001083961.2(WDR62):c.1641G>A (p.Thr547=) rs2301734
NM_001083961.2(WDR62):c.2112G>C (p.Ser704=) rs115453534
NM_001083961.2(WDR62):c.2334-29C>T rs2301737
NM_001083961.2(WDR62):c.2739+17C>A rs144527765
NM_001083962.2(TCF4):c.*1339dup rs145712320
NM_001083962.2(TCF4):c.*1761del rs71674214
NM_001083962.2(TCF4):c.*1799G>C rs187063308
NM_001083962.2(TCF4):c.*2010dup rs141970461
NM_001083962.2(TCF4):c.*3058C>T rs543261219
NM_001083962.2(TCF4):c.*3982del rs35555522
NM_001083962.2(TCF4):c.*4319_*4320insGA rs373174214
NM_001083962.2(TCF4):c.*4352_*4353del rs11431395
NM_001083962.2(TCF4):c.*5299A>G rs1261085
NM_001083962.2(TCF4):c.*5553dup rs71670792
NM_001083962.2(TCF4):c.*785_*786dup rs375140529
NM_001083962.2(TCF4):c.1231A>G (p.Met411Val) rs2145501402
NM_001083962.2(TCF4):c.1299G>A (p.Leu433=) rs552340151
NM_001083962.2(TCF4):c.1501C>T (p.Leu501=) rs781382144
NM_001083962.2(TCF4):c.1594A>G (p.Lys532Glu) rs1555717654
NM_001083962.2(TCF4):c.1969C>G (p.Pro657Ala) rs1220562859
NM_001083962.2(TCF4):c.1990G>A (p.Ala664Thr) rs755332116
NM_001083962.2(TCF4):c.322T>A (p.Ser108Thr) rs112222111
NM_001083962.2(TCF4):c.361T>G (p.Cys121Gly) rs2146490420
NM_001083962.2(TCF4):c.369+12T>G rs777983584
NM_001083962.2(TCF4):c.441G>C (p.Gln147His) rs2082192813
NM_001083962.2(TCF4):c.470G>A (p.Arg157Gln) rs1438864984
NM_001083962.2(TCF4):c.571A>G (p.Thr191Ala) rs753332007
NM_001083962.2(TCF4):c.649A>C (p.Met217Leu) rs768573052
NM_001083962.2(TCF4):c.790-17del rs2145958975
NM_001083962.2(TCF4):c.878C>A (p.Thr293Asn)
NM_001083962.2(TCF4):c.991-18del
NM_001083962.2(TCF4):c.991-18dup rs138389096
NM_001084.5(PLOD3):c.1402C>G (p.Arg468Gly) rs75592752
NM_001101.5(ACTB):c.609G>C (p.Thr203=) rs148292298
NM_001101.5(ACTB):c.903C>T (p.Gly301=) rs13447407
NM_001102401.4(TTI2):c.-100+1G>A
NM_001104631.2(PDE4D):c.*1251A>G rs17719258
NM_001104631.2(PDE4D):c.*1459_*1463dup rs140905619
NM_001104631.2(PDE4D):c.*1774TATT[1] rs66487103
NM_001104631.2(PDE4D):c.*2768T>G rs702531
NM_001104631.2(PDE4D):c.*466G>T rs140371223
NM_001104631.2(PDE4D):c.*815_*817dup rs67531361
NM_001104631.2(PDE4D):c.*872_*875dup rs3839217
NM_001104631.2(PDE4D):c.1552+7A>G rs768894375
NM_001104631.2(PDE4D):c.455+306662_455+306663dup
NM_001106.4(ACVR2B):c.*1041A>C rs7640050
NM_001106.4(ACVR2B):c.*1346_*1347del rs397989264
NM_001106.4(ACVR2B):c.*1891G>C rs541955988
NM_001106.4(ACVR2B):c.*3714G>T rs928813
NM_001106.4(ACVR2B):c.*6388T>G rs7374458
NM_001106.4(ACVR2B):c.*9318dup rs150324551
NM_001106.4(ACVR2B):c.370+14G>A rs377585519
NM_001109878.2(TBX22):c.-2-7C>G rs185298778
NM_001110219.3(GJB6):c.*227dup rs368264636
NM_001110219.3(GJB6):c.111G>A (p.Val37=) rs543659673
NM_001110792.2(MECP2):c.6CGC[8] (p.Ala7_Ala8dup) rs398123566
NM_001112.4(ADARB1):c.1993G>T (p.Ala665Ser) rs1344272743
NM_001113378.2(FANCI):c.1703A>G (p.His568Arg) rs555480773
NM_001113378.2(FANCI):c.1993-10del
NM_001113378.2(FANCI):c.2170-3dup
NM_001113378.2(FANCI):c.2292-12dup
NM_001113378.2(FANCI):c.2292-5dup rs1567165544
NM_001113378.2(FANCI):c.288+19del
NM_001113378.2(FANCI):c.3187-7del
NM_001113378.2(FANCI):c.3538-6del
NM_001113378.2(FANCI):c.3538-6dup
NM_001113378.2(FANCI):c.3538-7_3538-6del
NM_001113378.2(FANCI):c.3720+14A>G rs200012909
NM_001113378.2(FANCI):c.3816+17_3816+19del rs374324314
NM_001113378.2(FANCI):c.3925-7del
NM_001113378.2(FANCI):c.545+16del
NM_001113378.2(FANCI):c.975+10dup rs751890595
NM_001113378.2(FANCI):c.975+23dup
NM_001114636.1(FANCL):c.-39A>G rs41281511
NM_001114753.3(ENG):c.*320G>A rs41478248
NM_001114753.3(ENG):c.-115G>C rs546892762
NM_001114753.3(ENG):c.1272+20del
NM_001114753.3(ENG):c.1312-3dup
NM_001114753.3(ENG):c.1365C>T (p.Tyr455=)
NM_001114753.3(ENG):c.1429-9_1429-6dup rs762494923
NM_001114753.3(ENG):c.1509C>T (p.Thr503=)
NM_001114753.3(ENG):c.1526G>C (p.Gly509Ala)
NM_001114753.3(ENG):c.1532C>T (p.Ala511Val)
NM_001114753.3(ENG):c.153G>C (p.Lys51Asn)
NM_001114753.3(ENG):c.1583C>G (p.Pro528Arg)
NM_001114753.3(ENG):c.15G>A (p.Thr5=)
NM_001114753.3(ENG):c.1687-19CT[2] rs566728279
NM_001114753.3(ENG):c.1742-16C>T
NM_001114753.3(ENG):c.176A>G (p.Asn59Ser)
NM_001114753.3(ENG):c.1852+20A>G
NM_001114753.3(ENG):c.269C>T (p.Thr90Ile)
NM_001114753.3(ENG):c.507C>T (p.Leu169=) rs750014839
NM_001114753.3(ENG):c.565G>A (p.Asp189Asn) rs147792018
NM_001114753.3(ENG):c.585G>C (p.Glu195Asp)
NM_001114753.3(ENG):c.602C>A (p.Pro201Gln)
NM_001114753.3(ENG):c.699G>A (p.Thr233=)
NM_001114753.3(ENG):c.816+20C>T
NM_001114753.3(ENG):c.909C>T (p.Ala303=) rs200306464
NM_001114753.3(ENG):c.933G>T (p.Val311=)
NM_001122630.2(CDKN1C):c.*5+18dup rs34289096
NM_001122630.2(CDKN1C):c.455CTCCGGTCGCGG[2] (p.152APVA[2]) rs565544512
NM_001122630.2(CDKN1C):c.504CCCGGC[2] (p.168AP[7]) rs878853629
NM_001122630.2(CDKN1C):c.522TCCGGC[2] (p.168AP[7]) rs878853632
NM_001122630.2(CDKN1C):c.567_572del (p.186_187AP[9]) rs1060503860
NM_001122630.2(CDKN1C):c.567_578del (p.186_187AP[8]) rs878853634
NM_001122630.2(CDKN1C):c.567_578dup (p.186_187AP[12]) rs878853634
NM_001122630.2(CDKN1C):c.567_584del (p.186_187AP[7]) rs878853636
NM_001122630.2(CDKN1C):c.567_590del (p.186_187AP[6]) rs878853637
NM_001122630.2(CDKN1C):c.573GGCCCC[2] (p.186AP[8]) rs759134767
NM_001122630.2(CDKN1C):c.573GGCCCC[3] (p.186AP[9]) rs759134767
NM_001122630.2(CDKN1C):c.573GGCCCC[5] (p.186AP[11]) rs759134767
NM_001122630.2(CDKN1C):c.593_616del (p.186_187AP[6]) rs778468310
NM_001122630.2(CDKN1C):c.787+19del rs2133781831
NM_001122681.2(SH3BP2):c.*2471G>T rs549117793
NM_001122681.2(SH3BP2):c.*2485T>C rs536625304
NM_001122681.2(SH3BP2):c.*4818dup rs397878760
NM_001122681.2(SH3BP2):c.*6592G>C rs79866849
NM_001122681.2(SH3BP2):c.*6592G>T rs79866849
NM_001122681.2(SH3BP2):c.*7166_*7167del rs566926916
NM_001122681.2(SH3BP2):c.1351-10C>A rs556659893
NM_001122681.2(SH3BP2):c.136+14del
NM_001122681.2(SH3BP2):c.239+19T>C
NM_001122681.2(SH3BP2):c.357+15G>T rs62620003
NM_001122681.2(SH3BP2):c.518-14del
NM_001122681.2(SH3BP2):c.518-14dup rs1192457972
NM_001122681.2(SH3BP2):c.518-18C>A rs74503655
NM_001122681.2(SH3BP2):c.518-18C>T rs74503655
NM_001122681.2(SH3BP2):c.750T>G (p.Ala250=) rs231399
NM_001122681.2(SH3BP2):c.782C>G (p.Pro261Arg) rs146213141
NM_001122955.4(BSCL2):c.88-613G>A rs112877243
NM_001126121.2(SLC25A19):c.*164G>A rs371154305
NM_001127.4(AP1B1):c.2349G>A (p.Ala783=) rs174765
NM_001127649.3(PEX26):c.*1283C>T rs73876563
NM_001127649.3(PEX26):c.*1532_*1535dup rs361782
NM_001127649.3(PEX26):c.*1661_*1662insACTC rs361571
NM_001127649.3(PEX26):c.*1859A>C rs146739242
NM_001127649.3(PEX26):c.*829A>G rs362057
NM_001127649.3(PEX26):c.*944C>A rs78412274
NM_001127649.3(PEX26):c.372-12dup rs1489019658
NM_001127649.3(PEX26):c.814+22del
NM_001127671.2(LIFR):c.*3330C>A rs148827994
NM_001127671.2(LIFR):c.*3639_*3640del rs796517933
NM_001127671.2(LIFR):c.*5072dup rs34579169
NM_001127671.2(LIFR):c.143-37GT[11] rs10637374
NM_001127671.2(LIFR):c.143-37GT[12] rs10637374
NM_001127671.2(LIFR):c.143-37GT[13] rs10637374
NM_001127671.2(LIFR):c.143-37GT[15] rs10637374
NM_001127671.2(LIFR):c.143-37GT[16] rs10637374
NM_001127671.2(LIFR):c.3288C>T (p.Asn1096=) rs3729751
NM_001127671.2(LIFR):c.397+17_397+20del rs139143276
NM_001128159.3(VPS53):c.1218+57G>C rs10521105
NM_001128159.3(VPS53):c.1314-19dup rs36070043
NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) rs140574574
NM_001128225.3(SLC39A13):c.786+24dup
NM_001129.5(AEBP1):c.863-37dup rs58863562
NM_001130144.3(LTBP3):c.1187-15del rs754347924
NM_001130144.3(LTBP3):c.1531+15dup rs539958151
NM_001130144.3(LTBP3):c.1532-3del rs2135152686
NM_001130144.3(LTBP3):c.1846+6C>G rs760385371
NM_001130144.3(LTBP3):c.1846+7G>T rs371976916
NM_001130144.3(LTBP3):c.2353+18del
NM_001130144.3(LTBP3):c.2977+10C>G rs202235144
NM_001130144.3(LTBP3):c.3106+14C>A rs79476747
NM_001130144.3(LTBP3):c.3106+16dup
NM_001130144.3(LTBP3):c.331+14del
NM_001130144.3(LTBP3):c.3761-15C>T rs376049741
NM_001130144.3(LTBP3):c.662-16C>T
NM_001130144.3(LTBP3):c.76CTG[11] (p.Leu35dup) rs71036212
NM_001130144.3(LTBP3):c.76CTG[12] (p.Leu34_Leu35dup) rs71036212
NM_001130144.3(LTBP3):c.76CTG[13] (p.Leu33_Leu35dup) rs71036212
NM_001134831.2(AHI1):c.*1051ATTT[1] rs144339517
NM_001134831.2(AHI1):c.*28G>C rs9494209
NM_001134831.2(AHI1):c.1151+12del
NM_001134831.2(AHI1):c.1151+12dup
NM_001134831.2(AHI1):c.1152-7dup rs773371042
NM_001134831.2(AHI1):c.1152-8_1152-7del
NM_001134831.2(AHI1):c.1304G>A (p.Arg435Gln) rs545841352
NM_001134831.2(AHI1):c.2037-77G>A rs737561
NM_001134831.2(AHI1):c.2267-13dup rs2128017037
NM_001134831.2(AHI1):c.2374-12del rs766929085
NM_001134831.2(AHI1):c.2493-9dup
NM_001134831.2(AHI1):c.2989-11del rs397775233
NM_001134831.2(AHI1):c.3109+9del
NM_001134831.2(AHI1):c.3110-22_3110-19del rs71725890
NM_001134831.2(AHI1):c.3485+13_3485+15del rs540849894
NM_001134831.2(AHI1):c.459A>C (p.Thr153=) rs531024131
NM_001134831.2(AHI1):c.932-13del rs753114452
NM_001134831.2(AHI1):c.932-21dup rs753114452
NM_001136193.2(FASTKD2):c.*2488T>C rs6435351
NM_001136193.2(FASTKD2):c.991-13G>A rs13421046
NM_001143979.2(NDE1):c.-564C>T rs79063947
NM_001145358.2(SIN3A):c.3592-20T>A rs4886696
NM_001148.6(ANK2):c.10260G>A (p.Arg3420=)
NM_001148.6(ANK2):c.10362G>C (p.Arg3454Ser) rs55726422
NM_001148.6(ANK2):c.11032+20TG[12] rs34201791
NM_001148.6(ANK2):c.11032+20TG[13] rs34201791
NM_001148.6(ANK2):c.11032+20TG[14] rs34201791
NM_001148.6(ANK2):c.11032+20TG[16] rs34201791
NM_001148.6(ANK2):c.11032+20TG[17] rs34201791
NM_001148.6(ANK2):c.11032+20TG[18] rs34201791
NM_001148.6(ANK2):c.11110G>A (p.Glu3704Lys)
NM_001148.6(ANK2):c.186+3A>G
NM_001148.6(ANK2):c.2583C>T (p.Tyr861=) rs529426179
NM_001148.6(ANK2):c.2646T>C (p.Asp882=) rs1203137650
NM_001148.6(ANK2):c.2901-10del
NM_001148.6(ANK2):c.3224+17del rs1563823565
NM_001148.6(ANK2):c.3655A>G (p.Ile1219Val)
NM_001148.6(ANK2):c.4122+15dup
NM_001148.6(ANK2):c.4237C>T (p.Leu1413=) rs878854259
NM_001148.6(ANK2):c.7346A>G (p.His2449Arg) rs2095739184
NM_001148.6(ANK2):c.7947C>T (p.Val2649=)
NM_001148.6(ANK2):c.8891T>C (p.Ile2964Thr)
NM_001148.6(ANK2):c.9400A>G (p.Ile3134Val)
NM_001151.4(SLC25A4):c.*277C>T rs190251889
NM_001151.4(SLC25A4):c.*323TTA[1] rs139462979
NM_001151.4(SLC25A4):c.*481G>T rs78882199
NM_001151.4(SLC25A4):c.-84C>A rs183128370
NM_001159773.2(CANT1):c.*570G>A rs8079368
NM_001163809.2(WDR81):c.5556C>T (p.Thr1852=) rs1045794
NM_001164508.2(NEB):c.10872+27A>C rs10186656
NM_001164508.2(NEB):c.22161+18G>C rs6721666
NM_001166114.2(PNPLA6):c.2634+38G>C rs599328
NM_001166114.2(PNPLA6):c.3913+23del rs11307097
NM_001173990.3(TMEM216):c.*6A>G rs541341560
NM_001173990.3(TMEM216):c.-24C>G rs59493015
NM_001173990.3(TMEM216):c.216T>C (p.Ile72=) rs541666319
NM_001173990.3(TMEM216):c.253C>A (p.Arg85=) rs11230683
NM_001173990.3(TMEM216):c.432-10G>C rs768069891
NM_001173990.3(TMEM216):c.432-1G>C rs10897158
NM_001173990.3(TMEM216):c.5T>C (p.Leu2Pro) rs569734777
NM_001173990.3:c.432-11_432-10insA
NM_001174147.2(LMX1B):c.*1673C>G rs191584459
NM_001174147.2(LMX1B):c.*1703C>T rs144070517
NM_001174147.2(LMX1B):c.*172C>A rs574095852
NM_001174147.2(LMX1B):c.*2590_*2591del rs398069012
NM_001174147.2(LMX1B):c.*2831C>T rs148906444
NM_001174147.2(LMX1B):c.*4127C>T rs146636393
NM_001174147.2(LMX1B):c.1107C>T (p.Ser369=) rs10115304
NM_001174147.2(LMX1B):c.628G>A (p.Gly210Arg) rs754095270
NM_001174150.2(ARL13B):c.422C>G (p.Ala141Gly) rs529580146
NM_001174150.2(ARL13B):c.486+22del rs368491848
NM_001174150.2(ARL13B):c.486+22dup rs368491848
NM_001174150.2(ARL13B):c.59+20C>T
NM_001199198.3(TBC1D23):c.1554-49dup rs2148869399
NM_001202.6(BMP4):c.-7-159T>G rs35107139
NM_001202.6(BMP4):c.-7-163C>G rs10130587
NM_001202.6(BMP4):c.213G>T (p.Pro71=)
NM_001202.6(BMP4):c.370+160C>T rs2071047
NM_001203.3(BMPR1B):c.*3277A>T rs148400273
NM_001203.3(BMPR1B):c.*3489A>G rs142488637
NM_001203.3(BMPR1B):c.1112G>T (p.Arg371Leu) rs34970181
NM_001203.3(BMPR1B):c.906G>C (p.Leu302=)
NM_001206641.3(COA6):c.373-8dup rs58896934
NM_001235.5(SERPINH1):c.622+25TCC[6] rs35462148
NM_001256007.3(PNPLA8):c.1626-15del rs3214243
NM_001257281.2(DIS3L2):c.1651_1652insGGG (p.Glu550_Ala551insGly) rs141560952
NM_001267550.2(TTN):c.15178G>A (p.Val5060Ile) rs72648929
NM_001271938.2(MEGF8):c.1143G>A (p.Pro381=)
NM_001271938.2(MEGF8):c.1197C>T (p.Pro399=) rs149190709
NM_001271938.2(MEGF8):c.2299-15_2299-12del rs141582110
NM_001271938.2(MEGF8):c.333C>T (p.Ile111=)
NM_001271938.2(MEGF8):c.3350+16dup
NM_001271938.2(MEGF8):c.5344-14del
NM_001271938.2(MEGF8):c.5489-18T>C
NM_001271938.2(MEGF8):c.5686C>T (p.His1896Tyr)
NM_001271938.2(MEGF8):c.5720+11C>T
NM_001271938.2(MEGF8):c.6084G>A (p.Val2028=) rs547635717
NM_001271938.2(MEGF8):c.6482-16A>G
NM_001271938.2(MEGF8):c.6888C>T (p.Gly2296=)
NM_001271938.2(MEGF8):c.7136+12C>T rs375712517
NM_001271938.2(MEGF8):c.828+11del rs2147449280
NM_001276345.2(TNNT2):c.164-50G>A rs3729843
NM_001276345.2(TNNT2):c.270C>T (p.Pro90=) rs140245123
NM_001276345.2(TNNT2):c.351G>A (p.Glu117=) rs1659436211
NM_001276345.2(TNNT2):c.412-6_412-4del rs397516462
NM_001276345.2(TNNT2):c.412-94del rs35559054
NM_001276345.2(TNNT2):c.451C>A (p.Arg151=) rs74315379
NM_001276345.2(TNNT2):c.53-11_53-7del rs45533739
NM_001276345.2(TNNT2):c.811-8del
NM_001278116.2(L1CAM):c.-109+234del rs199975679
NM_001278116.2(L1CAM):c.-109+238_-109+239insGG rs143464562
NM_001278689.2(EOGT):c.1152+10del
NM_001278689.2(EOGT):c.516-18T>C
NM_001278689.2(EOGT):c.562_563inv (p.Lys188Leu)
NM_001278689.2(EOGT):c.807C>T (p.Asp269=)
NM_001282531.3(ADNP):c.2971A>G (p.Met991Val) rs564373258
NM_001282531.3(ADNP):c.422_424dup (p.Ser141dup) rs577498739
NM_001282531.3(ADNP):c.833AGA[1] (p.Lys279del) rs771131110
NM_001282597.3(CTNNA2):c.-5-14A>G rs3739139
NM_001286577.2(C2CD3):c.3910+55A>G rs1095424
NM_001291303.3(FAT4):c.1358A>T (p.Gln453Leu) rs6847454
NM_001291415.2(KDM6A):c.1215A>T (p.Pro405=)
NM_001291415.2(KDM6A):c.147C>T (p.Leu49=)
NM_001291415.2(KDM6A):c.156G>A (p.Leu52=)
NM_001291415.2(KDM6A):c.1684-5G>T
NM_001291415.2(KDM6A):c.1684-6dup
NM_001291415.2(KDM6A):c.1874C>T (p.Ser625Phe) rs765545282
NM_001291415.2(KDM6A):c.2108C>T (p.Ser703Leu)
NM_001291415.2(KDM6A):c.2129G>A (p.Arg710Gln)
NM_001291415.2(KDM6A):c.2187G>A (p.Gln729=)
NM_001291415.2(KDM6A):c.225+16G>C
NM_001291415.2(KDM6A):c.226-19T>C
NM_001291415.2(KDM6A):c.226-4C>A
NM_001291415.2(KDM6A):c.2333C>A (p.Thr778Lys) rs2230018
NM_001291415.2(KDM6A):c.2333C>T (p.Thr778Met) rs2230018
NM_001291415.2(KDM6A):c.2526C>G (p.Asn842Lys)
NM_001291415.2(KDM6A):c.2859-5del rs10605935
NM_001291415.2(KDM6A):c.2859-5dup rs10605935
NM_001291415.2(KDM6A):c.2859-6_2859-5del rs10605935
NM_001291415.2(KDM6A):c.2859-7_2859-5del rs10605935
NM_001291415.2(KDM6A):c.3295T>C (p.Leu1099=) rs747260329
NM_001291415.2(KDM6A):c.3301-4A>G
NM_001291415.2(KDM6A):c.334+11del
NM_001291415.2(KDM6A):c.3705-11del
NM_001291415.2(KDM6A):c.3705-11dup rs746893662
NM_001291415.2(KDM6A):c.3893-6del rs748438075
NM_001291415.2(KDM6A):c.3893-6dup rs748438075
NM_001291415.2(KDM6A):c.3924C>T (p.Tyr1308=)
NM_001291415.2(KDM6A):c.4045C>T (p.Leu1349=)
NM_001291415.2(KDM6A):c.40_51del (p.Ala14_Ala17del) rs749062014
NM_001291415.2(KDM6A):c.40_51dup (p.Ala14_Ala17dup) rs749062014
NM_001291415.2(KDM6A):c.4236T>C (p.Asp1412=)
NM_001291415.2(KDM6A):c.42CGC[4] (p.Ala17dup) rs797044622
NM_001291415.2(KDM6A):c.4350C>T (p.Ser1450=)
NM_001291415.2(KDM6A):c.45C>T (p.Ala15=)
NM_001291415.2(KDM6A):c.609C>T (p.Ser203=)
NM_001291415.2(KDM6A):c.655-13_655-12del rs758763063
NM_001291415.2(KDM6A):c.655-15T>C
NM_001291415.2(KDM6A):c.65A>G (p.Glu22Gly)
NM_001291415.2(KDM6A):c.799A>G (p.Ser267Gly)
NM_001291415.2(KDM6A):c.875+16C>T
NM_001291415.2(KDM6A):c.981A>G (p.Leu327=)
NM_001291867.2(NHS):c.*3008T>A
NM_001291867.2(NHS):c.1089T>C (p.Ile363=)
NM_001291867.2(NHS):c.1326C>T (p.Ser442=)
NM_001291867.2(NHS):c.1386G>A (p.Arg462=)
NM_001291867.2(NHS):c.1443C>G (p.Gly481=)
NM_001291867.2(NHS):c.1471G>A (p.Asp491Asn)
NM_001291867.2(NHS):c.1486C>A (p.Pro496Thr)
NM_001291867.2(NHS):c.1501C>T (p.Arg501Cys) rs770144581
NM_001291867.2(NHS):c.1514G>A (p.Arg505Gln)
NM_001291867.2(NHS):c.1645C>T (p.Pro549Ser)
NM_001291867.2(NHS):c.1655C>T (p.Pro552Leu)
NM_001291867.2(NHS):c.1710C>T (p.His570=)
NM_001291867.2(NHS):c.1796A>G (p.Asn599Ser)
NM_001291867.2(NHS):c.1806G>A (p.Thr602=)
NM_001291867.2(NHS):c.1925C>A (p.Pro642His)
NM_001291867.2(NHS):c.1995G>A (p.Ser665=)
NM_001291867.2(NHS):c.207GCC[3] (p.Pro73del) rs10590816
NM_001291867.2(NHS):c.2096C>T (p.Ala699Val)
NM_001291867.2(NHS):c.2225G>A (p.Arg742His)
NM_001291867.2(NHS):c.2261C>T (p.Thr754Ile)
NM_001291867.2(NHS):c.2313G>A (p.Ala771=)
NM_001291867.2(NHS):c.2448G>A (p.Gly816=)
NM_001291867.2(NHS):c.2592C>T (p.Asn864=)
NM_001291867.2(NHS):c.2682C>T (p.Phe894=)
NM_001291867.2(NHS):c.2688C>T (p.Asn896=)
NM_001291867.2(NHS):c.2720C>T (p.Pro907Leu)
NM_001291867.2(NHS):c.2749C>A (p.Gln917Lys)
NM_001291867.2(NHS):c.2762G>A (p.Gly921Asp)
NM_001291867.2(NHS):c.2789C>T (p.Ser930Leu)
NM_001291867.2(NHS):c.2880T>C (p.Tyr960=)
NM_001291867.2(NHS):c.2910G>A (p.Thr970=)
NM_001291867.2(NHS):c.2932A>G (p.Ile978Val)
NM_001291867.2(NHS):c.3049G>A (p.Gly1017Ser)
NM_001291867.2(NHS):c.3057A>G (p.Ala1019=) rs751373846
NM_001291867.2(NHS):c.310_345del (p.Pro104_Ala115del) rs797045741
NM_001291867.2(NHS):c.3132A>G (p.Pro1044=)
NM_001291867.2(NHS):c.3215C>T (p.Thr1072Ile)
NM_001291867.2(NHS):c.333G>C (p.Ser111=)
NM_001291867.2(NHS):c.3360A>G (p.Gly1120=)
NM_001291867.2(NHS):c.3506C>T (p.Thr1169Ile)
NM_001291867.2(NHS):c.3571C>T (p.Arg1191Cys)
NM_001291867.2(NHS):c.3666T>C (p.Thr1222=)
NM_001291867.2(NHS):c.3687C>T (p.Cys1229=)
NM_001291867.2(NHS):c.3828G>C (p.Arg1276Ser)
NM_001291867.2(NHS):c.3890A>G (p.Asp1297Gly)
NM_001291867.2(NHS):c.4030T>C (p.Phe1344Leu)
NM_001291867.2(NHS):c.4087A>G (p.Ile1363Val)
NM_001291867.2(NHS):c.4128G>C (p.Gln1376His)
NM_001291867.2(NHS):c.4167T>C (p.Ser1389=) rs767452227
NM_001291867.2(NHS):c.4222+18T>C
NM_001291867.2(NHS):c.4314T>C (p.Pro1438=)
NM_001291867.2(NHS):c.4380T>C (p.Asp1460=)
NM_001291867.2(NHS):c.4422C>A (p.Leu1474=)
NM_001291867.2(NHS):c.4428_4430dup (p.Ser1480dup) rs398124609
NM_001291867.2(NHS):c.4536A>G (p.Thr1512=)
NM_001291867.2(NHS):c.4676G>C (p.Ser1559Thr)
NM_001291867.2(NHS):c.4858C>T (p.Arg1620Trp)
NM_001291867.2(NHS):c.565+17T>C
NM_001291867.2(NHS):c.566-10dup rs5901624
NM_001291867.2(NHS):c.566-12C>T
NM_001291867.2(NHS):c.566-13_566-12insG
NM_001291867.2(NHS):c.568G>A (p.Val190Ile)
NM_001291867.2(NHS):c.667G>A (p.Val223Met)
NM_001291867.2(NHS):c.687C>T (p.His229=)
NM_001291867.2(NHS):c.718+19G>A
NM_001291867.2(NHS):c.819G>A (p.Arg273=)
NM_001291867.2(NHS):c.851C>T (p.Thr284Met)
NM_001291867.2(NHS):c.950T>C (p.Met317Thr)
NM_001303.4(COX10):c.*151_*152del rs200239586
NM_001303.4(COX10):c.*646C>A rs7214082
NM_001303.4(COX10):c.*831CT[1] rs397763766
NM_001303.4(COX10):c.1096G>T (p.Val366Leu) rs111541535
NM_001308093.3(GATA4):c.*1521C>G rs3203358
NM_001308093.3(GATA4):c.1076G>C (p.Ser359Thr) rs536598649
NM_001308093.3(GATA4):c.1149+129C>T rs116052854
NM_001308093.3(GATA4):c.1149+177C>T rs12156163
NM_001308093.3(GATA4):c.702G>A (p.Thr234=) rs55788387
NM_001321218.2(B9D1):c.*61C>T rs11652712
NM_001329943.3(KIAA0586):c.100G>T (p.Val34Phe) rs186659284
NM_001329943.3(KIAA0586):c.1129+15del
NM_001329943.3(KIAA0586):c.1584-5del
NM_001329943.3(KIAA0586):c.199+23del rs537837939
NM_001329943.3(KIAA0586):c.2944+24dup rs768128741
NM_001329943.3(KIAA0586):c.2945-9del
NM_001329943.3(KIAA0586):c.3144+15del
NM_001329943.3(KIAA0586):c.3165_3166delinsAG (p.Pro1056Ala) rs386777947
NM_001329943.3(KIAA0586):c.3305-8dup rs5808973
NM_001329943.3(KIAA0586):c.3305-9_3305-8dup rs5808973
NM_001329943.3(KIAA0586):c.340+25dup rs770708728
NM_001329943.3(KIAA0586):c.340+6del
NM_001329943.3(KIAA0586):c.567C>T (p.Thr189=)
NM_001329943.3(KIAA0586):c.962-10dup rs1431902070
NM_001330078.2(NRXN1):c.*2105A>C rs112364713
NM_001330078.2(NRXN1):c.*967_*970dup rs3839058
NM_001330078.2(NRXN1):c.1135-13dup
NM_001330078.2(NRXN1):c.1760-11C>G rs199550097
NM_001330078.2(NRXN1):c.1843C>T (p.Leu615=) rs201029409
NM_001330078.2(NRXN1):c.2347+20del
NM_001330078.2(NRXN1):c.2348-13C>A
NM_001330078.2(NRXN1):c.3547-14dup
NM_001330078.2(NRXN1):c.3547-18dup rs749772679
NM_001330078.2(NRXN1):c.4216+17T>A rs200836763
NM_001330078.2(NRXN1):c.4216+17del rs2104381080
NM_001330311.2(DVL1):c.605+70GT[4] rs145370195
NM_001330677.2(TBX15):c.1697T>G (p.Met566Arg) rs61730011
NM_001346754.2(PIGW):c.1030T>C (p.Leu344=)
NM_001346754.2(PIGW):c.21G>A (p.Lys7=)
NM_001346754.2(PIGW):c.309C>G (p.Cys103Trp)
NM_001347721.2(DYRK1A):c.10+5C>T
NM_001347721.2(DYRK1A):c.1012C>T (p.Leu338Phe)
NM_001347721.2(DYRK1A):c.1121A>G (p.His374Arg)
NM_001347721.2(DYRK1A):c.1315G>A (p.Asp439Asn)
NM_001347721.2(DYRK1A):c.134A>T (p.Gln45Leu)
NM_001347721.2(DYRK1A):c.1508C>G (p.Ser503Trp) rs1555991126
NM_001347721.2(DYRK1A):c.1559C>T (p.Ser520Leu)
NM_001347721.2(DYRK1A):c.1565C>T (p.Pro522Leu) rs2148651660
NM_001347721.2(DYRK1A):c.1604C>A (p.Ala535Asp)
NM_001347721.2(DYRK1A):c.1609G>A (p.Val537Met) rs762519059
NM_001347721.2(DYRK1A):c.1645-3C>A
NM_001347721.2(DYRK1A):c.1645-7C>A rs1198926046
NM_001347721.2(DYRK1A):c.1693C>T (p.Pro565Ser) rs768231661
NM_001347721.2(DYRK1A):c.173A>G (p.Tyr58Cys) rs1041691170
NM_001347721.2(DYRK1A):c.1751C>T (p.Pro584Leu)
NM_001347721.2(DYRK1A):c.1803CCA[4] (p.His610del) rs760576043
NM_001347721.2(DYRK1A):c.1830T>A (p.His610Gln)
NM_001347721.2(DYRK1A):c.1864A>G (p.Arg622Gly)
NM_001347721.2(DYRK1A):c.187C>A (p.Gln63Lys)
NM_001347721.2(DYRK1A):c.1898C>T (p.Thr633Ile)
NM_001347721.2(DYRK1A):c.1958C>T (p.Thr653Met)
NM_001347721.2(DYRK1A):c.2027T>A (p.Val676Glu)
NM_001347721.2(DYRK1A):c.207+4A>G
NM_001347721.2(DYRK1A):c.208-34A>G rs201001986
NM_001347721.2(DYRK1A):c.2137T>G (p.Phe713Val) rs1601336491
NM_001347721.2(DYRK1A):c.2188A>G (p.Met730Val) rs201958918
NM_001347721.2(DYRK1A):c.2188A>T (p.Met730Leu) rs201958918
NM_001347721.2(DYRK1A):c.2200G>C (p.Ala734Pro) rs1413667922
NM_001347721.2(DYRK1A):c.348C>G (p.Asp116Glu) rs150200258
NM_001347721.2(DYRK1A):c.376G>A (p.Val126Ile) rs1297803457
NM_001347721.2(DYRK1A):c.43G>A (p.Val15Ile) rs780200883
NM_001347721.2(DYRK1A):c.47G>A (p.Arg16Gln) rs1057175147
NM_001347721.2(DYRK1A):c.490-3T>C
NM_001347721.2(DYRK1A):c.509G>A (p.Arg170His)
NM_001347721.2(DYRK1A):c.578T>C (p.Ile193Thr)
NM_001347721.2(DYRK1A):c.7A>G (p.Thr3Ala) rs2148427299
NM_001347721.2(DYRK1A):c.820A>G (p.Ile274Val)
NM_001347721.2(DYRK1A):c.88A>G (p.Met30Val) rs762466544
NM_001347721.2(DYRK1A):c.88A>T (p.Met30Leu)
NM_001347721.2(DYRK1A):c.924+3A>G
NM_001347721.2(DYRK1A):c.925-3C>T
NM_001351132.2(PEX5):c.*1134dup rs11448434
NM_001351132.2(PEX5):c.*628G>A rs12316371
NM_001351132.2(PEX5):c.*628G>C rs12316371
NM_001351132.2(PEX5):c.-20C>G rs12227917
NM_001351132.2(PEX5):c.137_147+1del
NM_001351132.2(PEX5):c.1394+14dup rs1186018434
NM_001351132.2(PEX5):c.1413G>C (p.Val471=) rs115760878
NM_001351132.2(PEX5):c.147+77_147+121del
NM_001351132.2(PEX5):c.148-15_148-12del rs774517551
NM_001351132.2(PEX5):c.1561-44_1561-43insTCTGAGTCGGTGGAGTAATGTGCAGAGTTTGA rs141721291
NM_001351132.2(PEX5):c.551+113_551+114dup rs5796268
NM_001351132.2(PEX5):c.754-8del
NM_001351132.2(PEX5):c.754-8dup
NM_001351132.2(PEX5):c.966+12dup
NM_001351132.2(PEX5):c.966+24dup rs1944415107
NM_001352754.2(ARMC9):c.2205dup (p.Thr736fs) rs35889244
NM_001352754.2(ARMC9):c.538_539delinsGA (p.Ile180Glu) rs386656198
NM_001354587.1(ANKRD36):c.5731dup (p.Gln1911fs) rs752428198
NM_001354604.2(MITF):c.*1270G>A rs137975240
NM_001354604.2(MITF):c.*2029A>T rs571540517
NM_001354604.2(MITF):c.*24G>A rs375847754
NM_001354604.2(MITF):c.*575_*576dup rs59665466
NM_001354604.2(MITF):c.1517G>A (p.Gly506Glu) rs548265796
NM_001354604.2(MITF):c.666+12C>T
NM_001354604.2(MITF):c.762+19dup
NM_001358530.2(MOCS1):c.*1629G>T rs3793137
NM_001358530.2(MOCS1):c.*1775_*1778dup rs112997952
NM_001358530.2(MOCS1):c.1103-19del
NM_001358530.2(MOCS1):c.1212G>C (p.Pro404=) rs11969233
NM_001358530.2(MOCS1):c.123+14G>A rs530177835
NM_001358530.2(MOCS1):c.1355G>T (p.Arg452Leu) rs11969206
NM_001358530.2(MOCS1):c.645+9G>A rs73732319
NM_001360.3(DHCR7):c.*161_*172del rs141483210
NM_001360.3(DHCR7):c.-225C>G rs4944946
NM_001360.3(DHCR7):c.-225C>T rs4944946
NM_001360.3(DHCR7):c.321+219C>T rs12422045
NM_001360.3(DHCR7):c.964-8dup rs1305056733
NM_001365276.2(TNXB):c.12224G>A (p.Arg4075His) rs201510617
NM_001365276.2(TNXB):c.2516-17_2516-15del rs199775035
NM_001365276.2(TNXB):c.6902C>A (p.Pro2301His) rs2269428
NM_001365276.2(TNXB):c.8542G>A (p.Gly2848Arg) rs61745355
NM_001365276.2(TNXB):c.8845C>A (p.Pro2949Thr) rs149492184
NM_001365276.2(TNXB):c.9440-12_9440-10del rs199828189
NM_001365902.3(NFIX):c.28-15G>A
NM_001365902.3(NFIX):c.28-326G>A
NM_001365902.3(NFIX):c.336C>T (p.Gly112=)
NM_001365902.3(NFIX):c.559+23del
NM_001365902.3(NFIX):c.564C>T (p.Ser188=)
NM_001365902.3(NFIX):c.621C>T (p.Asn207=)
NM_001365902.3(NFIX):c.622+8C>G
NM_001365902.3(NFIX):c.818+9_818+16del
NM_001365902.3(NFIX):c.933G>A (p.Gly311=)
NM_001365902.3(NFIX):c.942C>T (p.Asn314=)
NM_001365902.3(NFIX):c.956-3del
NM_001365951.3(KIF1B):c.*249CA[15] rs111663673
NM_001365951.3(KIF1B):c.*2740C>A rs144047666
NM_001365951.3(KIF1B):c.*3857G>A rs536529721
NM_001365999.1(SZT2):c.154-37G>C rs710249
NM_001365999.1(SZT2):c.2550+5G>A rs41270349
NM_001365999.1(SZT2):c.2550+5G>T rs41270349
NM_001365999.1(SZT2):c.5905-13C>G rs200996082
NM_001365999.1(SZT2):c.6508+16G>T rs2782648
NM_001365999.1(SZT2):c.675G>A (p.Lys225=) rs564963914
NM_001365999.1(SZT2):c.7812T>A (p.Ala2604=) rs551577660
NM_001365999.1(SZT2):c.7874-16C>G rs72883828
NM_001365999.1(SZT2):c.9883C>T (p.Leu3295=) rs534948696
NM_001366686.3(SIK3):c.3551C>G (p.Pro1184Arg) rs12225230
NM_001366722.1(GRIP1):c.*1261del rs35499444
NM_001366722.1(GRIP1):c.418+14C>A rs79994510
NM_001366722.1(GRIP1):c.964G>A (p.Ala322Thr) rs17102531
NM_001367479.1(DNAH14):c.3755T>A (p.Met1252Lys) rs786205668
NM_001367561.1(DOCK7):c.1283-14del rs541344421
NM_001367561.1(DOCK7):c.1283-14dup rs541344421
NM_001367561.1(DOCK7):c.145-7del
NM_001367561.1(DOCK7):c.1520-17dup
NM_001367561.1(DOCK7):c.1872-9del rs199915737
NM_001367561.1(DOCK7):c.1872-9dup rs199915737
NM_001367561.1(DOCK7):c.3046-4dup rs574290909
NM_001367561.1(DOCK7):c.321-4del
NM_001367561.1(DOCK7):c.3781+15_3781+56del rs533117910
NM_001367561.1(DOCK7):c.390-10del
NM_001367561.1(DOCK7):c.541A>G (p.Met181Val) rs61743961
NM_001367561.1(DOCK7):c.5962-7del rs2149258818
NM_001367561.1(DOCK7):c.6213-6del
NM_001367561.1(DOCK7):c.6381-6dup rs773882812
NM_001367561.1(DOCK7):c.819-11dup
NM_001367624.2(ZNF469):c.*551TCCTCCCTCTGACCACAGGGTCATGCC[3] rs6145934
NM_001367624.2(ZNF469):c.*618T>G rs3859020
NM_001367624.2(ZNF469):c.*870del rs35684712
NM_001367624.2(ZNF469):c.10325G>C (p.Arg3442Thr) rs199528724
NM_001367624.2(ZNF469):c.10326G>C (p.Arg3442Ser) rs56236932
NM_001367624.2(ZNF469):c.10328G>T (p.Gly3443Val) rs140056980
NM_001367624.2(ZNF469):c.10599C>T (p.Pro3533=) rs78022634
NM_001367624.2(ZNF469):c.1069T>C (p.Ser357Pro) rs11648572
NM_001367624.2(ZNF469):c.11406C>A (p.His3802Gln) rs141042464
NM_001367624.2(ZNF469):c.2625_2645del (p.Pro876_Gly882del) rs113102840
NM_001367624.2(ZNF469):c.2666C>T (p.Ala889Val) rs145186655
NM_001367624.2(ZNF469):c.3341G>T (p.Arg1114Leu) rs568046708
NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala) rs532620482
NM_001367624.2(ZNF469):c.5862C>T (p.Pro1954=) rs201666199
NM_001367624.2(ZNF469):c.6414G>T (p.Ser2138=) rs548774131
NM_001367624.2(ZNF469):c.6552G>T (p.Thr2184=) rs12919507
NM_001367624.2(ZNF469):c.8543A>G (p.Asp2848Gly) rs1457868844
NM_001367624.2(ZNF469):c.9095_9109del (p.Leu3032_Thr3036del) rs281865162
NM_001368809.2(AMPD2):c.1005T>C (p.His335=)
NM_001368809.2(AMPD2):c.1863-3dup
NM_001368809.2(AMPD2):c.2475A>G (p.Gln825=) rs553448801
NM_001368894.2(PAX6):c.593G>T (p.Gly198Val)
NM_001368894.2(PAX6):c.724+14del rs772158967
NM_001368894.2(PAX6):c.935C>A (p.Pro312Gln)
NM_001369268.1(ACAN):c.1430-40G>A rs12911138
NM_001369268.1(ACAN):c.1753C>A (p.Arg585Ser) rs144501729
NM_001369268.1(ACAN):c.2514G>A (p.Ser838=) rs3743399
NM_001369268.1(ACAN):c.3009C>T (p.Thr1003=) rs4080952
NM_001369268.1(ACAN):c.4207A>G (p.Thr1403Ala) rs12899191
NM_001369268.1(ACAN):c.4523A>C (p.Glu1508Ala) rs2882676
NM_001369268.1(ACAN):c.5799T>G (p.Thr1933=) rs3825994
NM_001369268.1(ACAN):c.6780T>G (p.Ala2260=) rs698621
NM_001369268.1(ACAN):c.7119C>G (p.Phe2373Leu) rs2141638387
NM_001369268.1(ACAN):c.7499A>G (p.Lys2500Arg) rs2141644827
NM_001369268.1(ACAN):c.758-37del rs11324188
NM_001370259.2(MEN1):c.*10G>A
NM_001370259.2(MEN1):c.*10G>T
NM_001370259.2(MEN1):c.*126C>T rs138595686
NM_001370259.2(MEN1):c.*1A>C
NM_001370259.2(MEN1):c.*2C>T
NM_001370259.2(MEN1):c.*3T>A
NM_001370259.2(MEN1):c.*6T>C
NM_001370259.2(MEN1):c.*8G>A
NM_001370259.2(MEN1):c.*9G>A
NM_001370259.2(MEN1):c.*9G>T
NM_001370259.2(MEN1):c.100C>T (p.Leu34=) rs771554497
NM_001370259.2(MEN1):c.1020C>T (p.Ala340=)
NM_001370259.2(MEN1):c.1041C>T (p.Val347=)
NM_001370259.2(MEN1):c.1044C>T (p.Ile348=)
NM_001370259.2(MEN1):c.1065G>C (p.Arg355=) rs1592640719
NM_001370259.2(MEN1):c.1072GAG[1] (p.Glu359del) rs1060499971
NM_001370259.2(MEN1):c.1083C>T (p.Tyr361=) rs1168237114
NM_001370259.2(MEN1):c.108C>T (p.Leu36=)
NM_001370259.2(MEN1):c.1098A>G (p.Glu366=)
NM_001370259.2(MEN1):c.1119C>A (p.Pro373=) rs535417698
NM_001370259.2(MEN1):c.1126C>T (p.Leu376=)
NM_001370259.2(MEN1):c.1147C>T (p.Leu383=) rs2136109092
NM_001370259.2(MEN1):c.1155G>T (p.Ala385=) rs201091135
NM_001370259.2(MEN1):c.1158C>G (p.Gly386=) rs794728653
NM_001370259.2(MEN1):c.1167G>T (p.Arg389=)
NM_001370259.2(MEN1):c.1170G>C (p.Pro390=) rs587780841
NM_001370259.2(MEN1):c.1170G>T (p.Pro390=) rs587780841
NM_001370259.2(MEN1):c.1173G>A (p.Gly391=) rs1592639850
NM_001370259.2(MEN1):c.1176G>A (p.Glu392=)
NM_001370259.2(MEN1):c.1185+18C>T rs780329058
NM_001370259.2(MEN1):c.1185G>C (p.Gln395His)
NM_001370259.2(MEN1):c.1191C>T (p.Thr397=) rs1166154585
NM_001370259.2(MEN1):c.1203T>C (p.Gly401=) rs878855187
NM_001370259.2(MEN1):c.1206C>A (p.Ser402=) rs770037856
NM_001370259.2(MEN1):c.1209C>T (p.Ala403=)
NM_001370259.2(MEN1):c.1212C>G (p.Leu404=) rs577268289
NM_001370259.2(MEN1):c.1251C>T (p.Tyr417=) rs751481164
NM_001370259.2(MEN1):c.1254_1257delinsTGGG (p.Asp418_Gly419=)
NM_001370259.2(MEN1):c.126C>T (p.Gly42=) rs2136193097
NM_001370259.2(MEN1):c.1287G>T (p.Thr429=) rs376598079
NM_001370259.2(MEN1):c.1296_1299delinsACAC (p.Leu432_His433=)
NM_001370259.2(MEN1):c.129C>T (p.Phe43=)
NM_001370259.2(MEN1):c.1314C>G (p.Thr438=) rs897481809
NM_001370259.2(MEN1):c.1314C>T (p.Thr438=) rs897481809
NM_001370259.2(MEN1):c.132G>A (p.Val44=)
NM_001370259.2(MEN1):c.1344G>A (p.Glu448=) rs371339952
NM_001370259.2(MEN1):c.1351-24_1351-14del rs753219137
NM_001370259.2(MEN1):c.1351-35ACCTTGCTCTC[3] rs753219137
NM_001370259.2(MEN1):c.1356G>A (p.Arg452=) rs1180957953
NM_001370259.2(MEN1):c.1359G>A (p.Gln453=)
NM_001370259.2(MEN1):c.1365G>A (p.Val455=)
NM_001370259.2(MEN1):c.1368C>T (p.Arg456=)
NM_001370259.2(MEN1):c.1374G>C (p.Val458=) rs771297499
NM_001370259.2(MEN1):c.1377C>T (p.Ser459=) rs2136093597
NM_001370259.2(MEN1):c.1378C>A (p.Arg460=) rs104894267
NM_001370259.2(MEN1):c.1380A>G (p.Arg460=) rs2136093385
NM_001370259.2(MEN1):c.1386C>G (p.Ala462=) rs771827808
NM_001370259.2(MEN1):c.1386C>T (p.Ala462=) rs771827808
NM_001370259.2(MEN1):c.1392G>C (p.Ala464=) rs754445482
NM_001370259.2(MEN1):c.1392G>T (p.Ala464=)
NM_001370259.2(MEN1):c.1395C>G (p.Ala465=) rs748820252
NM_001370259.2(MEN1):c.1398G>A (p.Glu466=) rs990566024
NM_001370259.2(MEN1):c.1401C>G (p.Ala467=)
NM_001370259.2(MEN1):c.1410G>A (p.Pro470=) rs1060503795
NM_001370259.2(MEN1):c.1419G>A (p.Glu473=) rs2136091112
NM_001370259.2(MEN1):c.1428G>C (p.Arg476=) rs1555163730
NM_001370259.2(MEN1):c.1437G>A (p.Arg479=) rs1354865958
NM_001370259.2(MEN1):c.1449A>G (p.Pro483=)
NM_001370259.2(MEN1):c.144G>A (p.Leu48=)
NM_001370259.2(MEN1):c.144G>T (p.Leu48=)
NM_001370259.2(MEN1):c.1453C>A (p.Arg485=) rs1254459338
NM_001370259.2(MEN1):c.1455G>A (p.Arg485=)
NM_001370259.2(MEN1):c.1467A>G (p.Pro489=) rs1592632826
NM_001370259.2(MEN1):c.1479G>T (p.Pro493=) rs546721780
NM_001370259.2(MEN1):c.1494A>T (p.Pro498=) rs1037335560
NM_001370259.2(MEN1):c.1503C>T (p.Asp501=) rs2136087305
NM_001370259.2(MEN1):c.1509C>T (p.Gly503=)
NM_001370259.2(MEN1):c.1518C>G (p.Thr506=)
NM_001370259.2(MEN1):c.1521C>A (p.Gly507=) rs1407833502
NM_001370259.2(MEN1):c.1536A>G (p.Ser512=) rs2136085950
NM_001370259.2(MEN1):c.1539A>C (p.Gly513=)
NM_001370259.2(MEN1):c.153C>T (p.Asn51=) rs1555166669
NM_001370259.2(MEN1):c.1554T>C (p.Pro518=) rs2136084986
NM_001370259.2(MEN1):c.1569T>G (p.Ala523=) rs1592631415
NM_001370259.2(MEN1):c.156C>T (p.Arg52=) rs1592659960
NM_001370259.2(MEN1):c.1578C>T (p.Ala526=) rs767655504
NM_001370259.2(MEN1):c.1581A>T (p.Arg527=)
NM_001370259.2(MEN1):c.1596C>G (p.Gly532=)
NM_001370259.2(MEN1):c.15C>A (p.Ala5=) rs757821521
NM_001370259.2(MEN1):c.15C>T (p.Ala5=)
NM_001370259.2(MEN1):c.1602G>A (p.Thr534=) rs1592631034
NM_001370259.2(MEN1):c.1602G>C (p.Thr534=) rs1592631034
NM_001370259.2(MEN1):c.1620_1621inv (p.Thr541Ala)
NM_001370259.2(MEN1):c.1632A>G (p.Pro544=)
NM_001370259.2(MEN1):c.1637C>T (p.Pro546Leu) rs779413959
NM_001370259.2(MEN1):c.1647A>G (p.Pro549=) rs2136081746
NM_001370259.2(MEN1):c.1648G>T (p.Val550Leu) rs562257963
NM_001370259.2(MEN1):c.1656T>G (p.Thr552=)
NM_001370259.2(MEN1):c.1659C>T (p.Phe553=) rs1299138529
NM_001370259.2(MEN1):c.1668G>A (p.Glu556=) rs2136080910
NM_001370259.2(MEN1):c.1689G>A (p.Glu563=) rs1178628764
NM_001370259.2(MEN1):c.1695G>A (p.Leu565=)
NM_001370259.2(MEN1):c.171C>T (p.Asn57=) rs1171829753
NM_001370259.2(MEN1):c.1722C>T (p.Ala574=)
NM_001370259.2(MEN1):c.1729C>T (p.Leu577=) rs762744342
NM_001370259.2(MEN1):c.1749G>A (p.Ser583=)
NM_001370259.2(MEN1):c.1749G>T (p.Ser583=) rs765105348
NM_001370259.2(MEN1):c.1782C>A (p.Thr594=)
NM_001370259.2(MEN1):c.1794C>T (p.Tyr598=) rs2136077605
NM_001370259.2(MEN1):c.1806C>T (p.Phe602=) rs1060503794
NM_001370259.2(MEN1):c.1809C>G (p.Leu603=)
NM_001370259.2(MEN1):c.180G>A (p.Glu60=) rs2136190736
NM_001370259.2(MEN1):c.189C>T (p.Phe63=) rs137880635
NM_001370259.2(MEN1):c.18C>G (p.Ala6=)
NM_001370259.2(MEN1):c.195C>T (p.Pro65=) rs1438097332
NM_001370259.2(MEN1):c.198C>T (p.Ser66=) rs2136189969
NM_001370259.2(MEN1):c.201C>T (p.Pro67=) rs1060503791
NM_001370259.2(MEN1):c.207C>T (p.Pro69=)
NM_001370259.2(MEN1):c.213G>A (p.Pro71=) rs778154183
NM_001370259.2(MEN1):c.21G>A (p.Gln7=) rs1422628649
NM_001370259.2(MEN1):c.225C>T (p.Leu75=) rs1333791405
NM_001370259.2(MEN1):c.228C>G (p.Thr76=) rs1394017906
NM_001370259.2(MEN1):c.228C>T (p.Thr76=) rs1394017906
NM_001370259.2(MEN1):c.237C>T (p.Pro79=) rs1592659200
NM_001370259.2(MEN1):c.243C>T (p.Ala81=)
NM_001370259.2(MEN1):c.24G>A (p.Lys8=) rs2136196440
NM_001370259.2(MEN1):c.252T>C (p.Ser84=) rs1592658989
NM_001370259.2(MEN1):c.261C>T (p.Ala87=)
NM_001370259.2(MEN1):c.264C>T (p.Ala88=)
NM_001370259.2(MEN1):c.267C>G (p.Leu89=) rs1060499972
NM_001370259.2(MEN1):c.279C>T (p.Phe93=)
NM_001370259.2(MEN1):c.27G>A (p.Thr9=) rs1190267704
NM_001370259.2(MEN1):c.27G>T (p.Thr9=)
NM_001370259.2(MEN1):c.282C>T (p.Thr94=) rs760442763
NM_001370259.2(MEN1):c.288G>A (p.Gln96=) rs2136185997
NM_001370259.2(MEN1):c.297C>T (p.Gly99=)
NM_001370259.2(MEN1):c.300C>T (p.Ala100=) rs773136972
NM_001370259.2(MEN1):c.306C>T (p.Asp102=)
NM_001370259.2(MEN1):c.30G>A (p.Leu10=)
NM_001370259.2(MEN1):c.327A>G (p.Glu109=)
NM_001370259.2(MEN1):c.330G>A (p.Gly110=)
NM_001370259.2(MEN1):c.333T>A (p.Gly111=)
NM_001370259.2(MEN1):c.351G>A (p.Leu117=)
NM_001370259.2(MEN1):c.360G>A (p.Lys120=) rs1477714779
NM_001370259.2(MEN1):c.363C>G (p.Val121=)
NM_001370259.2(MEN1):c.366C>T (p.Ser122=) rs1592658043
NM_001370259.2(MEN1):c.36G>A (p.Pro12=) rs775721366
NM_001370259.2(MEN1):c.372C>A (p.Val124=)
NM_001370259.2(MEN1):c.409C>A (p.Arg137=) rs1208267598
NM_001370259.2(MEN1):c.411G>C (p.Arg137=) rs371437505
NM_001370259.2(MEN1):c.417C>T (p.His139=)
NM_001370259.2(MEN1):c.420C>T (p.Ile140=)
NM_001370259.2(MEN1):c.429C>G (p.Leu143=)
NM_001370259.2(MEN1):c.450C>T (p.Thr150=)
NM_001370259.2(MEN1):c.45C>T (p.Ser15=)
NM_001370259.2(MEN1):c.480T>C (p.Ala160=) rs2136157794
NM_001370259.2(MEN1):c.48C>A (p.Ile16=)
NM_001370259.2(MEN1):c.495C>T (p.Cys165=)
NM_001370259.2(MEN1):c.513G>A (p.Arg171=)
NM_001370259.2(MEN1):c.51C>T (p.Asp17=) rs2136195633
NM_001370259.2(MEN1):c.522C>T (p.His174=)
NM_001370259.2(MEN1):c.573G>T (p.Glu191Asp) rs1592651018
NM_001370259.2(MEN1):c.579A>T (p.Thr193=)
NM_001370259.2(MEN1):c.57G>A (p.Val19=) rs759282395
NM_001370259.2(MEN1):c.582T>A (p.Ala194=) rs1592650942
NM_001370259.2(MEN1):c.588C>T (p.Val196=) rs1592650906
NM_001370259.2(MEN1):c.591C>G (p.Thr197=) rs527294715
NM_001370259.2(MEN1):c.591C>T (p.Thr197=) rs527294715
NM_001370259.2(MEN1):c.60G>C (p.Val20=) rs776432516
NM_001370259.2(MEN1):c.61C>A (p.Arg21Ser) rs541476418
NM_001370259.2(MEN1):c.627G>A (p.Gln209=) rs1565647751
NM_001370259.2(MEN1):c.63C>T (p.Arg21=) rs1018289242
NM_001370259.2(MEN1):c.645G>A (p.Val215=) rs1347044526
NM_001370259.2(MEN1):c.654+18C>T rs180737290
NM_001370259.2(MEN1):c.654+18del rs112700230
NM_001370259.2(MEN1):c.654+18dup rs112700230
NM_001370259.2(MEN1):c.655-5del rs772016629
NM_001370259.2(MEN1):c.655-5dup rs772016629
NM_001370259.2(MEN1):c.655-6C>A rs77461664
NM_001370259.2(MEN1):c.655-6C>G rs77461664
NM_001370259.2(MEN1):c.655-6C>T rs77461664
NM_001370259.2(MEN1):c.663G>C (p.Leu221=) rs1466764986
NM_001370259.2(MEN1):c.66G>A (p.Leu22=)
NM_001370259.2(MEN1):c.675A>T (p.Gly225=)
NM_001370259.2(MEN1):c.687C>G (p.Arg229=)
NM_001370259.2(MEN1):c.720G>A (p.Val240=)
NM_001370259.2(MEN1):c.726C>G (p.Ala242=)
NM_001370259.2(MEN1):c.750C>T (p.His250=)
NM_001370259.2(MEN1):c.756C>T (p.Asp252=)
NM_001370259.2(MEN1):c.75C>A (p.Ala25=)
NM_001370259.2(MEN1):c.786G>A (p.Lys262=)
NM_001370259.2(MEN1):c.792C>G (p.Leu264=) rs2136134213
NM_001370259.2(MEN1):c.819G>T (p.Leu273=) rs748369241
NM_001370259.2(MEN1):c.81G>C (p.Leu27=) rs1592660553
NM_001370259.2(MEN1):c.831C>G (p.Pro277=)
NM_001370259.2(MEN1):c.831C>T (p.Pro277=)
NM_001370259.2(MEN1):c.837C>T (p.Ala279=) rs762092675
NM_001370259.2(MEN1):c.84C>T (p.Gly28=) rs2136194730
NM_001370259.2(MEN1):c.870G>A (p.Glu290=)
NM_001370259.2(MEN1):c.873C>T (p.Pro291=)
NM_001370259.2(MEN1):c.876C>G (p.Thr292=) rs756782257
NM_001370259.2(MEN1):c.876C>T (p.Thr292=) rs756782257
NM_001370259.2(MEN1):c.87A>C (p.Arg29=) rs1198070818
NM_001370259.2(MEN1):c.894A>C (p.Pro298=)
NM_001370259.2(MEN1):c.897C>T (p.Leu299=) rs1409781409
NM_001370259.2(MEN1):c.909C>T (p.His303=) rs878855200
NM_001370259.2(MEN1):c.915C>T (p.Gly305=)
NM_001370259.2(MEN1):c.927C>T (p.Ala309=)
NM_001370259.2(MEN1):c.933C>T (p.Thr311=)
NM_001370259.2(MEN1):c.936C>T (p.Tyr312=) rs386134260
NM_001370259.2(MEN1):c.957C>T (p.Tyr319=)
NM_001370259.2(MEN1):c.963C>T (p.Tyr321=) rs1555165094
NM_001370259.2(MEN1):c.96G>A (p.Pro32=) rs1268807885
NM_001370259.2(MEN1):c.970C>T (p.Leu324=)
NM_001370259.2(MEN1):c.990C>G (p.Arg330=)
NM_001370595.2(COA8):c.40C>G (p.Pro14Ala) rs2274268
NM_001371623.1(TCOF1):c.1704+16G>A
NM_001371623.1(TCOF1):c.1704+9C>T
NM_001371623.1(TCOF1):c.1993G>C (p.Ala665Pro) rs2071240
NM_001371623.1(TCOF1):c.3046+7G>A
NM_001371623.1(TCOF1):c.4087AAG[4] (p.Lys1367del) rs773205979
NM_001371623.1(TCOF1):c.4326GAA[2] (p.Lys1445del) rs574569798
NM_001371623.1(TCOF1):c.4345+11G>A rs370407398
NM_001371623.1(TCOF1):c.4374GAA[2] (p.Lys1461del) rs151344581
NM_001371623.1(TCOF1):c.4413G>A (p.Glu1471=)
NM_001371623.1(TCOF1):c.4444-18G>A
NM_001371623.1(TCOF1):c.839AGG[2] (p.Glu282del) rs1160403859
NM_001371623.1(TCOF1):c.930C>G (p.Thr310=)
NM_001374353.1(GLI2):c.2088C>T (p.Ser696=)
NM_001374353.1(GLI2):c.2136C>A (p.Phe712Leu) rs151179617
NM_001374353.1(GLI2):c.2136C>T (p.Phe712=) rs151179617
NM_001374353.1(GLI2):c.3552G>A (p.Thr1184=)
NM_001374353.1(GLI2):c.4281_4282delinsAT (p.Met1427_Leu1428delinsIlePhe) rs1553479775
NM_001374353.1(GLI2):c.4509T>G (p.Asp1503Glu) rs148902971
NM_001374353.1(GLI2):c.4677C>T (p.Ala1559=)
NM_001374353.1(GLI2):c.643+16C>G rs6718382
NM_001374353.1(GLI2):c.66C>T (p.Ala22=)
NM_001374828.1(ARID1B):c.2137-3dup rs541477699
NM_001374828.1(ARID1B):c.3330C>T (p.Pro1110=) rs752231248
NM_001374828.1(ARID1B):c.591GCA[9] (p.Gln214_His215insGlnGln) rs587779743
NM_001374828.1(ARID1B):c.929T>C (p.Val310Ala)
NM_001374828.1(ARID1B):c.954C>T (p.Gly318=) rs745740327
NM_001377299.1(NDUFS2):c.58C>A (p.Pro20Thr) rs11538340
NM_001378183.1(PIEZO2):c.2170-19_2170-18del rs11468237
NM_001378183.1(PIEZO2):c.7953-9del rs5823112
NM_001378189.1(CFAP57):c.176G>T (p.Gly59Val)
NM_001378328.1(CELSR1):c.7313G>A (p.Arg2438Gln)
NM_001378414.1(HDAC4):c.95-98del rs74761897
NM_001378452.1(ITPR1):c.951+35G>C rs6442895
NM_001378615.1(CC2D2A):c.1607+12del
NM_001378615.1(CC2D2A):c.1978G>A (p.Val660Ile) rs16892134
NM_001378615.1(CC2D2A):c.1978G>C (p.Val660Leu) rs16892134
NM_001378615.1(CC2D2A):c.248-16del
NM_001378615.1(CC2D2A):c.2922+10dup rs752271495
NM_001378615.1(CC2D2A):c.40-122A>C rs9993580
NM_001378615.1(CC2D2A):c.4066-12del rs752759735
NM_001378615.1(CC2D2A):c.439-13del
NM_001378615.1(CC2D2A):c.4675-9del
NM_001378615.1(CC2D2A):c.4675-9dup
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del) rs386833764
NM_001378615.1(CC2D2A):c.762A>G (p.Leu254=) rs116198081
NM_001378964.1(CDON):c.*1933A>G rs2509616
NM_001378964.1(CDON):c.*2003C>G rs73019373
NM_001378964.1(CDON):c.*2345T>A rs58251767
NM_001378964.1(CDON):c.*2347T>C rs58515733
NM_001378964.1(CDON):c.*871C>T rs148777681
NM_001378964.1(CDON):c.*897T>C rs563620294
NM_001378964.1(CDON):c.*983A>G rs76724574
NM_001378964.1(CDON):c.1553-17TC[3] rs762936563
NM_001378964.1(CDON):c.2286G>A (p.Arg762=)
NM_001378964.1(CDON):c.2362+49C>A rs11220309
NM_001378964.1(CDON):c.244C>T (p.Leu82=) rs552008016
NM_001378964.1(CDON):c.2868C>A (p.Thr956=)
NM_001379081.2(FREM1):c.-135G>C rs12238629
NM_001379081.2(FREM1):c.1394G>C (p.Gly465Ala) rs41298151
NM_001379081.2(FREM1):c.4244C>G (p.Thr1415Ser) rs75677527
NM_001379081.2(FREM1):c.516C>T (p.Thr172=) rs41265310
NM_001379081.2(FREM1):c.6139-4T>A rs77135480
NM_001379081.2(FREM1):c.6139-4T>C rs77135480
NM_001379200.1(TBX1):c.1380T>C (p.His460=) rs367711718
NM_001379200.1(TBX1):c.1413_1442del (p.Ala476_Ala485del) rs752498057
NM_001379200.1(TBX1):c.1419_1430del (p.Ala482_Ala485del) rs751264690
NM_001379200.1(TBX1):c.215CGC[6] (p.Pro76dup) rs1009463279
NM_001379200.1(TBX1):c.330GAA[2] (p.Lys112del) rs369050575
NM_001379200.1(TBX1):c.935+16dup
NM_001379200.1(TBX1):c.936-9del rs763127510
NM_001379286.1(ZNF423):c.2535C>T (p.Thr845=) rs77996576
NM_001379403.1(WDR26):c.318AGG[5] (p.Gly125del)
NM_001382391.1(CSPP1):c.-10-5del
NM_001382391.1(CSPP1):c.-10-5dup rs536000854
NM_001382391.1(CSPP1):c.1023-7dup rs781187284
NM_001382391.1(CSPP1):c.1288-12dup rs759923250
NM_001382391.1(CSPP1):c.1619-8del
NM_001382391.1(CSPP1):c.200-5del
NM_001382391.1(CSPP1):c.200-5dup rs775661180
NM_001382391.1(CSPP1):c.2128+25_2128+36del rs11296619
NM_001382391.1(CSPP1):c.2128+34_2128+36del rs11296619
NM_001382391.1(CSPP1):c.2128+35_2128+36del rs11296619
NM_001382391.1(CSPP1):c.2128+36del rs11296619
NM_001382391.1(CSPP1):c.2392-8_2392-4del rs528357182
NM_001382391.1(CSPP1):c.2539-4del rs754861164
NM_001382391.1(CSPP1):c.3330+17del
NM_001382391.1(CSPP1):c.385-16del
NM_001382391.1(CSPP1):c.385-9dup
NM_001384732.1(CPLANE1):c.*441A>C rs7712558
NM_001384732.1(CPLANE1):c.2746+16del rs751625561
NM_001386795.1(DTNA):c.1532+18T>C rs115712655
NM_001386795.1(DTNA):c.1744-10G>A rs192561043
NM_001386795.1(DTNA):c.1744-10G>T rs192561043
NM_001386795.1(DTNA):c.231C>T (p.Asn77=) rs147759402
NM_001386795.1(DTNA):c.710-5dup
NM_001394062.1(MACF1):c.11260G>A (p.Val3754Ile)
NM_001394062.1(MACF1):c.15283G>T (p.Val5095Phe)
NM_001394062.1(MACF1):c.16603C>G (p.Gln5535Glu)
NM_001399.5(EDA):c.1000C>T (p.Arg334Cys)
NM_001399.5(EDA):c.1044C>T (p.Thr348=)
NM_001399.5(EDA):c.1104C>T (p.Asp368=) rs150292516
NM_001399.5(EDA):c.197C>T (p.Ser66Leu)
NM_001399.5(EDA):c.205C>T (p.Arg69Trp)
NM_001399.5(EDA):c.215G>A (p.Arg72His)
NM_001399.5(EDA):c.250_258del (p.Pro84_Thr86del) rs763527972
NM_001399.5(EDA):c.503-13A>G
NM_001399.5(EDA):c.503-14T>C
NM_001399.5(EDA):c.526+20A>C
NM_001399.5(EDA):c.706+11del
NM_001399.5(EDA):c.707-18T>G
NM_001399.5(EDA):c.741+18C>G
NM_001399.5(EDA):c.793+19T>C
NM_001407.3(CELSR3):c.9566G>A (p.Arg3189Gln)
NM_001429.4(EP300):c.1044T>C (p.Ala348=)
NM_001429.4(EP300):c.1047C>T (p.His349=)
NM_001429.4(EP300):c.1077G>A (p.Gly359=)
NM_001429.4(EP300):c.1113A>G (p.Thr371=)
NM_001429.4(EP300):c.1152A>G (p.Ser384=)
NM_001429.4(EP300):c.1283-16C>T rs200548363
NM_001429.4(EP300):c.1283-19dup
NM_001429.4(EP300):c.1283-6C>G
NM_001429.4(EP300):c.1449A>C (p.Gln483His)
NM_001429.4(EP300):c.1456G>A (p.Val486Met)
NM_001429.4(EP300):c.156A>G (p.Glu52=)
NM_001429.4(EP300):c.1634G>A (p.Ser545Asn) rs547550163
NM_001429.4(EP300):c.1785G>A (p.Pro595=)
NM_001429.4(EP300):c.1830A>G (p.Ala610=)
NM_001429.4(EP300):c.1878+19dup
NM_001429.4(EP300):c.1972C>A (p.Leu658Ile)
NM_001429.4(EP300):c.1983T>C (p.Ala661=)
NM_001429.4(EP300):c.2053+18T>C
NM_001429.4(EP300):c.2077A>G (p.Met693Val)
NM_001429.4(EP300):c.208A>G (p.Met70Val)
NM_001429.4(EP300):c.2131+18_2131+19inv
NM_001429.4(EP300):c.2131+24dup rs766192274
NM_001429.4(EP300):c.2181C>T (p.Pro727=)
NM_001429.4(EP300):c.222A>T (p.Ala74=)
NM_001429.4(EP300):c.2237A>G (p.Asn746Ser)
NM_001429.4(EP300):c.2256G>A (p.Gly752=)
NM_001429.4(EP300):c.231A>G (p.Lys77=)
NM_001429.4(EP300):c.2398T>G (p.Ser800Ala)
NM_001429.4(EP300):c.2505A>G (p.Val835=)
NM_001429.4(EP300):c.2520C>T (p.Pro840=)
NM_001429.4(EP300):c.2534C>G (p.Thr845Ser)
NM_001429.4(EP300):c.2573C>T (p.Thr858Ile)
NM_001429.4(EP300):c.257G>A (p.Arg86Gln)
NM_001429.4(EP300):c.2622G>C (p.Gln874His)
NM_001429.4(EP300):c.2676A>G (p.Gln892=)
NM_001429.4(EP300):c.2736G>T (p.Gln912His)
NM_001429.4(EP300):c.2743C>T (p.Arg915Cys)
NM_001429.4(EP300):c.2746T>A (p.Ser916Thr)
NM_001429.4(EP300):c.2789C>T (p.Pro930Leu)
NM_001429.4(EP300):c.2801C>T (p.Pro934Leu)
NM_001429.4(EP300):c.287G>A (p.Gly96Glu)
NM_001429.4(EP300):c.2889T>C (p.Asn963=)
NM_001429.4(EP300):c.2915C>T (p.Pro972Leu)
NM_001429.4(EP300):c.2981C>T (p.Pro994Leu)
NM_001429.4(EP300):c.2982G>A (p.Pro994=)
NM_001429.4(EP300):c.3030C>G (p.Thr1010=) rs148414681
NM_001429.4(EP300):c.3030C>T (p.Thr1010=) rs148414681
NM_001429.4(EP300):c.3045A>G (p.Arg1015=)
NM_001429.4(EP300):c.3116C>T (p.Pro1039Leu)
NM_001429.4(EP300):c.3135G>A (p.Lys1045=)
NM_001429.4(EP300):c.3143-4del rs757931697
NM_001429.4(EP300):c.3143-4dup rs757931697
NM_001429.4(EP300):c.3143-5_3143-4dup rs757931697
NM_001429.4(EP300):c.3143-6_3143-4dup
NM_001429.4(EP300):c.31C>T (p.Pro11Ser)
NM_001429.4(EP300):c.3262-13C>T
NM_001429.4(EP300):c.3282G>A (p.Lys1094=)
NM_001429.4(EP300):c.3354C>T (p.Val1118=) rs11704815
NM_001429.4(EP300):c.33T>A (p.Pro11=)
NM_001429.4(EP300):c.3447T>C (p.Phe1149=)
NM_001429.4(EP300):c.3636C>T (p.Ser1212=)
NM_001429.4(EP300):c.3690A>G (p.Gln1230=)
NM_001429.4(EP300):c.372C>T (p.Ser124=)
NM_001429.4(EP300):c.3806+3A>G rs1601629363
NM_001429.4(EP300):c.3811G>A (p.Val1271Ile)
NM_001429.4(EP300):c.383A>T (p.Gln128Leu)
NM_001429.4(EP300):c.3936A>T (p.Arg1312=)
NM_001429.4(EP300):c.3984T>C (p.Ala1328=)
NM_001429.4(EP300):c.3996C>G (p.Thr1332=)
NM_001429.4(EP300):c.3996C>T (p.Thr1332=) rs142288817
NM_001429.4(EP300):c.410G>C (p.Gly137Ala)
NM_001429.4(EP300):c.4188T>A (p.Ser1396=)
NM_001429.4(EP300):c.4191C>T (p.Tyr1397=)
NM_001429.4(EP300):c.4236A>G (p.Ala1412=)
NM_001429.4(EP300):c.443C>T (p.Thr148Met)
NM_001429.4(EP300):c.4602C>T (p.Ser1534=)
NM_001429.4(EP300):c.4687C>G (p.Leu1563Val)
NM_001429.4(EP300):c.4687C>T (p.Leu1563=) rs564848230
NM_001429.4(EP300):c.4798C>G (p.Leu1600Val) rs140154690
NM_001429.4(EP300):c.4863C>T (p.Cys1621=)
NM_001429.4(EP300):c.4884T>C (p.Asp1628=)
NM_001429.4(EP300):c.4920G>A (p.Glu1640=)
NM_001429.4(EP300):c.5016A>G (p.Glu1672=)
NM_001429.4(EP300):c.512C>T (p.Ala171Val)
NM_001429.4(EP300):c.524C>T (p.Pro175Leu)
NM_001429.4(EP300):c.532T>C (p.Leu178=)
NM_001429.4(EP300):c.5406G>A (p.Pro1802=)
NM_001429.4(EP300):c.5493G>A (p.Arg1831=)
NM_001429.4(EP300):c.5532A>G (p.Gln1844=)
NM_001429.4(EP300):c.5559C>A (p.Ala1853=)
NM_001429.4(EP300):c.5634C>T (p.Thr1878=)
NM_001429.4(EP300):c.5685T>C (p.Pro1895=)
NM_001429.4(EP300):c.5727C>T (p.Thr1909=)
NM_001429.4(EP300):c.5729CTC[1] (p.Pro1911del)
NM_001429.4(EP300):c.5737A>C (p.Thr1913Pro)
NM_001429.4(EP300):c.5784G>C (p.Met1928Ile)
NM_001429.4(EP300):c.5873C>T (p.Pro1958Leu)
NM_001429.4(EP300):c.5874G>T (p.Pro1958=)
NM_001429.4(EP300):c.5911C>T (p.Pro1971Ser)
NM_001429.4(EP300):c.605G>A (p.Arg202Gln)
NM_001429.4(EP300):c.6090A>G (p.Gln2030=)
NM_001429.4(EP300):c.6108A>T (p.Val2036=)
NM_001429.4(EP300):c.615G>T (p.Met205Ile)
NM_001429.4(EP300):c.6163T>C (p.Leu2055=)
NM_001429.4(EP300):c.6192C>A (p.Pro2064=)
NM_001429.4(EP300):c.6204A>G (p.Gln2068=)
NM_001429.4(EP300):c.6240G>A (p.Leu2080=)
NM_001429.4(EP300):c.6351C>T (p.Thr2117=)
NM_001429.4(EP300):c.6378C>T (p.Ser2126=)
NM_001429.4(EP300):c.6382C>G (p.Pro2128Ala)
NM_001429.4(EP300):c.63G>C (p.Pro21=)
NM_001429.4(EP300):c.6418G>A (p.Val2140Ile)
NM_001429.4(EP300):c.6447A>G (p.Gln2149=)
NM_001429.4(EP300):c.6522C>T (p.Thr2174=)
NM_001429.4(EP300):c.6543C>T (p.Asp2181=)
NM_001429.4(EP300):c.6591A>G (p.Ala2197=)
NM_001429.4(EP300):c.6633C>T (p.Phe2211=)
NM_001429.4(EP300):c.6641C>T (p.Pro2214Leu)
NM_001429.4(EP300):c.6659C>G (p.Pro2220Arg)
NM_001429.4(EP300):c.6696A>G (p.Gln2232=)
NM_001429.4(EP300):c.6743C>T (p.Ala2248Val)
NM_001429.4(EP300):c.6777C>T (p.Ala2259=)
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del) rs533875300
NM_001429.4(EP300):c.6863A>G (p.Gln2288Arg)
NM_001429.4(EP300):c.6867C>T (p.Ala2289=)
NM_001429.4(EP300):c.6874C>G (p.Pro2292Ala)
NM_001429.4(EP300):c.6921G>A (p.Val2307=)
NM_001429.4(EP300):c.6975C>G (p.Ser2325=)
NM_001429.4(EP300):c.7011A>G (p.Pro2337=)
NM_001429.4(EP300):c.7013A>G (p.His2338Arg)
NM_001429.4(EP300):c.7074C>T (p.Pro2358=)
NM_001429.4(EP300):c.7101G>A (p.Pro2367=)
NM_001429.4(EP300):c.7106A>G (p.Gln2369Arg)
NM_001429.4(EP300):c.7112C>T (p.Ser2371Leu)
NM_001429.4(EP300):c.7120T>G (p.Ser2374Ala)
NM_001429.4(EP300):c.7129G>A (p.Ala2377Thr)
NM_001429.4(EP300):c.7135A>C (p.Asn2379His)
NM_001429.4(EP300):c.713G>A (p.Gly238Asp)
NM_001429.4(EP300):c.7168G>A (p.Ala2390Thr)
NM_001429.4(EP300):c.7186A>G (p.Ser2396Gly)
NM_001429.4(EP300):c.7192G>A (p.Asp2398Asn)
NM_001429.4(EP300):c.7213A>G (p.Asn2405Asp)
NM_001429.4(EP300):c.7216C>T (p.Leu2406Phe)
NM_001429.4(EP300):c.730-18_730-9del rs61120041
NM_001429.4(EP300):c.750C>T (p.Pro250=)
NM_001429.4(EP300):c.809T>G (p.Leu270Arg)
NM_001429.4(EP300):c.80C>T (p.Ala27Val)
NM_001429.4(EP300):c.853T>C (p.Ser285Pro)
NM_001429.4(EP300):c.933G>A (p.Gln311=)
NM_001429.4(EP300):c.955G>A (p.Val319Ile)
NM_001429.4(EP300):c.963A>G (p.Gln321=)
NM_001448.3(GPC4):c.320-15del rs57898529
NM_001451.3(FOXF1):c.*1175_*1176del rs397854726
NM_001451.3(FOXF1):c.*1176del rs397854726
NM_001451.3(FOXF1):c.*472dup rs56130003
NM_001453.3(FOXC1):c.-244C>T rs185790394
NM_001453.3(FOXC1):c.1124GCG[7] (p.Gly380dup) rs76840944
NM_001453.3(FOXC1):c.1338CGG[7] (p.Gly456del) rs398123612
NM_001453.3(FOXC1):c.1338CGG[9] (p.Gly456dup) rs398123612
NM_001453.3(FOXC1):c.1464GGC[3] (p.Ala493_Ala495del) rs747574884
NM_001453.3(FOXC1):c.1552T>C (p.Leu518=)
NM_001453.3(FOXC1):c.423C>G (p.Arg141=)
NM_001453.3(FOXC1):c.573C>T (p.Leu191=) rs545282380
NM_001453.3(FOXC1):c.639G>T (p.Ala213=)
NM_001453.3(FOXC1):c.83CGGCGGCCG[1] (p.Ala31_Ala33del) rs756196843
NM_001492.6(GDF1):c.456GGC[6] (p.Ala158_Pro159insAla) rs571387097
NM_001614.5(ACTG1):c.-55G>A rs7503278
NM_001614.5(ACTG1):c.-6-83T>G rs8064532
NM_001614.5(ACTG1):c.124-6dup
NM_001614.5(ACTG1):c.124-8C>T rs201279208
NM_001614.5(ACTG1):c.15C>A (p.Ile5=) rs199657153
NM_001614.5(ACTG1):c.15C>T (p.Ile5=) rs199657153
NM_001614.5(ACTG1):c.315G>A (p.Leu105=) rs202094234
NM_001614.5(ACTG1):c.414C>T (p.Ala138=) rs143978597
NM_001614.5(ACTG1):c.558C>T (p.Thr186=) rs142893042
NM_001614.5(ACTG1):c.985-40del rs59886367
NM_001626.6(AKT2):c.1110G>T (p.Pro370=) rs41309435
NM_001626.6(AKT2):c.148C>A (p.Pro50Thr)
NM_001626.6(AKT2):c.175+13A>G
NM_001626.6(AKT2):c.427G>A (p.Ala143Thr) rs2145207525
NM_001626.6(AKT2):c.606G>A (p.Arg202=)
NM_001626.6(AKT2):c.709-14C>T
NM_001711.6(BGN):c.238+75A>G rs2980053
NM_001711.6(BGN):c.909+115T>C rs2269404
NM_001743.6(CALM2):c.285+16G>C rs3729963
NM_001743.6(CALM2):c.286-18_286-17del rs112882205
NM_001743.6(CALM2):c.286-6del
NM_001793.4(CDH3):c.-629dup rs11440411
NM_001793.6(CDH3):c.2281-45A>C rs3114409
NM_001793.6(CDH3):c.612C>A (p.Ile204=) rs8049247
NM_001797.4(CDH11):c.1117T>G (p.Ser373Ala) rs35213
NM_001814.6(CTSC):c.173-19dup rs11326739
NM_001814.6(CTSC):c.173-7del rs11326739
NM_001814.6(CTSC):c.173-8_173-7del
NM_001814.6(CTSC):c.318+9dup
NM_001814.6(CTSC):c.319-18del
NM_001814.6(CTSC):c.641+19dup
NM_001814.6(CTSC):c.757+9dup
NM_001814.6(CTSC):c.758-16T>A
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu) rs186233557
NM_001844.5(COL2A1):c.2673C>G (p.Gly891=) rs41272029
NM_001844.5(COL2A1):c.2679+69dup rs11443755
NM_001844.5(COL2A1):c.541G>T (p.Ala181Ser) rs1939975439
NM_001851.6(COL9A1):c.1728T>G (p.Pro576=) rs9346373
NM_001851.6(COL9A1):c.1765-21G>A rs2274584
NM_001851.6(COL9A1):c.2034+19T>C rs13202029
NM_001852.4(COL9A2):c.1604-26CTCC[7] rs3831927
NM_001852.4(COL9A2):c.88G>A (p.Gly30Arg) rs193238892
NM_001854.4(COL11A1):c.1792-39ATG[8] rs71752747
NM_001854.4(COL11A1):c.1792-39ATG[9] rs71752747
NM_001854.4(COL11A1):c.3375C>T (p.Asp1125=) rs17127270
NM_001854.4(COL11A1):c.3817-13del rs34228277
NM_001854.4(COL11A1):c.3817-13dup rs34228277
NM_001854.4(COL11A1):c.4303-13del rs35232764
NM_001854.4(COL11A1):c.652-6del rs36076089
NM_001854.4(COL11A1):c.652-7_652-6del rs36076089
NM_001931.4(DLAT):c.381+22delT rs5794771
NM_001931.5(DLAT):c.1399-13_1399-11del rs587691611
NM_001931.5(DLAT):c.1515-13dup
NM_001931.5(DLAT):c.1678-8del rs781833307
NM_001931.5(DLAT):c.270G>C (p.Pro90=)
NM_001931.5(DLAT):c.279+18dup
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001953.5(TYMP):c.194G>A (p.Ser65Asn) rs570047465
NM_001953.5(TYMP):c.766-53C>T rs2148679059
NM_001953.5(TYMP):c.966T>C (p.Thr322=) rs1064792856
NM_001957.4(EDNRA):c.748-19_748-18insCT rs71594223
NM_001982.4(ERBB3):c.2616+16G>C rs76079275
NM_001985.3(ETFB):c.216+18del
NM_001985.3(ETFB):c.58-57dup rs74357706
NM_001999.4(FBN2):c.*962C>G rs565071757
NM_001999.4(FBN2):c.1038A>G (p.Pro346=)
NM_001999.4(FBN2):c.106A>C (p.Lys36Gln)
NM_001999.4(FBN2):c.1079-7T>C
NM_001999.4(FBN2):c.108G>A (p.Lys36=)
NM_001999.4(FBN2):c.10A>G (p.Arg4Gly)
NM_001999.4(FBN2):c.1200C>A (p.Thr400=)
NM_001999.4(FBN2):c.1284G>A (p.Gly428=)
NM_001999.4(FBN2):c.134A>C (p.Gln45Pro)
NM_001999.4(FBN2):c.1364G>A (p.Gly455Glu)
NM_001999.4(FBN2):c.1423G>C (p.Gly475Arg) rs200440156
NM_001999.4(FBN2):c.1543T>A (p.Ser515Thr) rs528255772
NM_001999.4(FBN2):c.1560A>G (p.Glu520=)
NM_001999.4(FBN2):c.1764C>T (p.Asn588=)
NM_001999.4(FBN2):c.1867A>G (p.Thr623Ala)
NM_001999.4(FBN2):c.18G>A (p.Arg6=)
NM_001999.4(FBN2):c.2359T>C (p.Leu787=)
NM_001999.4(FBN2):c.2447T>C (p.Val816Ala)
NM_001999.4(FBN2):c.2457G>T (p.Leu819=)
NM_001999.4(FBN2):c.251G>A (p.Arg84Gln) rs747084358
NM_001999.4(FBN2):c.2892C>T (p.Gly964=)
NM_001999.4(FBN2):c.2909G>T (p.Arg970Leu)
NM_001999.4(FBN2):c.3090G>A (p.Gly1030=)
NM_001999.4(FBN2):c.3105C>T (p.Thr1035=)
NM_001999.4(FBN2):c.3148A>C (p.Thr1050Pro)
NM_001999.4(FBN2):c.3204G>T (p.Arg1068=)
NM_001999.4(FBN2):c.3217+12C>A rs375688726
NM_001999.4(FBN2):c.3258T>C (p.Tyr1086=)
NM_001999.4(FBN2):c.3321C>T (p.Asp1107=)
NM_001999.4(FBN2):c.3354G>A (p.Glu1118=)
NM_001999.4(FBN2):c.3491G>A (p.Arg1164His) rs1297011367
NM_001999.4(FBN2):c.363T>C (p.Asp121=)
NM_001999.4(FBN2):c.3786A>C (p.Gly1262=)
NM_001999.4(FBN2):c.3848-10G>T rs140017238
NM_001999.4(FBN2):c.4135G>A (p.Asp1379Asn)
NM_001999.4(FBN2):c.4271A>C (p.Gln1424Pro)
NM_001999.4(FBN2):c.4278A>G (p.Val1426=)
NM_001999.4(FBN2):c.4283C>T (p.Thr1428Ile) rs367961012
NM_001999.4(FBN2):c.4341C>T (p.Cys1447=)
NM_001999.4(FBN2):c.4386C>T (p.Asn1462=)
NM_001999.4(FBN2):c.4431G>A (p.Glu1477=)
NM_001999.4(FBN2):c.4472-12del rs758812755
NM_001999.4(FBN2):c.4472-12dup
NM_001999.4(FBN2):c.4485C>T (p.Cys1495=)
NM_001999.4(FBN2):c.4617T>G (p.Pro1539=)
NM_001999.4(FBN2):c.4681G>A (p.Asp1561Asn)
NM_001999.4(FBN2):c.4880-5dup
NM_001999.4(FBN2):c.4956C>T (p.Asp1652=)
NM_001999.4(FBN2):c.5079T>C (p.Ile1693=)
NM_001999.4(FBN2):c.5092G>T (p.Ala1698Ser)
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile) rs147157552
NM_001999.4(FBN2):c.5481G>C (p.Gln1827His)
NM_001999.4(FBN2):c.5536T>C (p.Leu1846=)
NM_001999.4(FBN2):c.5565C>T (p.Ser1855=)
NM_001999.4(FBN2):c.5598C>G (p.Asp1866Glu)
NM_001999.4(FBN2):c.5607T>C (p.Asn1869=)
NM_001999.4(FBN2):c.5613T>C (p.Pro1871=)
NM_001999.4(FBN2):c.5640G>A (p.Ala1880=) rs762588295
NM_001999.4(FBN2):c.5675-17A>T
NM_001999.4(FBN2):c.5811G>A (p.Glu1937=)
NM_001999.4(FBN2):c.5918-10T>C rs547697385
NM_001999.4(FBN2):c.5G>A (p.Gly2Glu) rs976599275
NM_001999.4(FBN2):c.6021T>C (p.Leu2007=)
NM_001999.4(FBN2):c.6047-9del
NM_001999.4(FBN2):c.6050C>T (p.Thr2017Ile)
NM_001999.4(FBN2):c.6072C>T (p.Pro2024=)
NM_001999.4(FBN2):c.6167-4G>T rs370981323
NM_001999.4(FBN2):c.6217A>T (p.Thr2073Ser)
NM_001999.4(FBN2):c.6412G>A (p.Asp2138Asn)
NM_001999.4(FBN2):c.6446T>C (p.Val2149Ala) rs191065419
NM_001999.4(FBN2):c.6570C>T (p.Thr2190=)
NM_001999.4(FBN2):c.6657C>T (p.Ile2219=)
NM_001999.4(FBN2):c.6765C>T (p.Asn2255=) rs140044610
NM_001999.4(FBN2):c.67G>C (p.Ala23Pro) rs893243344
NM_001999.4(FBN2):c.6881-15del
NM_001999.4(FBN2):c.6924G>A (p.Arg2308=)
NM_001999.4(FBN2):c.6948C>A (p.Ile2316=) rs17608368
NM_001999.4(FBN2):c.7176G>A (p.Gln2392=)
NM_001999.4(FBN2):c.7201A>G (p.Ser2401Gly)
NM_001999.4(FBN2):c.7218T>G (p.Thr2406=)
NM_001999.4(FBN2):c.7410C>T (p.Gly2470=)
NM_001999.4(FBN2):c.7449C>T (p.Asp2483=)
NM_001999.4(FBN2):c.7554G>A (p.Pro2518=)
NM_001999.4(FBN2):c.756G>A (p.Glu252=) rs565550310
NM_001999.4(FBN2):c.7650C>G (p.Thr2550=) rs140978642
NM_001999.4(FBN2):c.7734A>T (p.Gln2578His)
NM_001999.4(FBN2):c.7787G>T (p.Ser2596Ile)
NM_001999.4(FBN2):c.788G>A (p.Arg263Gln) rs769593495
NM_001999.4(FBN2):c.8034C>T (p.Cys2678=)
NM_001999.4(FBN2):c.8035G>A (p.Ala2679Thr) rs763870762
NM_001999.4(FBN2):c.8082C>G (p.His2694Gln) rs142755118
NM_001999.4(FBN2):c.809G>T (p.Arg270Leu) rs148971572
NM_001999.4(FBN2):c.8226G>A (p.Gly2742=)
NM_001999.4(FBN2):c.8407G>A (p.Val2803Ile)
NM_001999.4(FBN2):c.8538C>T (p.Arg2846=)
NM_001999.4(FBN2):c.8556G>A (p.Gly2852=)
NM_001999.4(FBN2):c.8557C>T (p.Leu2853Phe)
NM_001999.4(FBN2):c.8559C>T (p.Leu2853=) rs778576181
NM_001999.4(FBN2):c.857T>C (p.Ile286Thr)
NM_001999.4(FBN2):c.95C>T (p.Pro32Leu)
NM_002010.3(FGF9):c.*1604C>G rs111765283
NM_002010.3(FGF9):c.*541C>A rs17070747
NM_002010.3(FGF9):c.-117dup rs10624265
NM_002010.3(FGF9):c.-118_-117dup rs10624265
NM_002010.3(FGF9):c.516G>T (p.Pro172=) rs201876493
NM_002076.4(GNS):c.253-10del rs201654719
NM_002076.4(GNS):c.526-6del rs2136248435
NM_002076.4(GNS):c.625-10dup rs2136247672
NM_002076.4(GNS):c.793-15del rs754323701
NM_002076.4(GNS):c.793-15dup
NM_002139.4(RBMX):c.-1C>A rs2011584
NM_002148.4(HOXD10):c.*643C>T rs552102680
NM_002181.4(IHH):c.*175C>G rs3099
NM_002181.4(IHH):c.227A>C (p.Glu76Ala) rs576284122
NM_002181.4(IHH):c.588C>T (p.Ala196=) rs770515682
NM_002203.4(ITGA2):c.*2041del rs35863692
NM_002203.4(ITGA2):c.*3385_*3386insGAAA rs59915734
NM_002203.4(ITGA2):c.*475_*477del rs199677547
NM_002272.4(KRT4):c.1020G>C (p.Ser340=) rs7956809
NM_002272.4(KRT4):c.1259G>A (p.Arg420His) rs377329227
NM_002334.4(LRP4):c.2093-15dup rs375880498
NM_002334.4(LRP4):c.2814+13_2814+35del
NM_002334.4(LRP4):c.2918G>T (p.Arg973Leu)
NM_002334.4(LRP4):c.3004+18C>A rs2306028
NM_002334.4(LRP4):c.3536+16A>T
NM_002334.4(LRP4):c.3536+22C>A rs964551
NM_002334.4(LRP4):c.3700-21C>G rs2306032
NM_002334.4(LRP4):c.4890C>T (p.Ala1630=) rs550931351
NM_002334.4(LRP4):c.4937G>A (p.Arg1646Gln) rs3816614
NM_002386.3(MC1R):c.-1371C>G rs546542914
NM_002386.4(MC1R):c.*157C>A rs3212370
NM_002386.4(MC1R):c.*76C>T rs545888975
NM_002386.4(MC1R):c.504C>T (p.Ile168=) rs34612847
NM_002386.4(MC1R):c.667C>T (p.Arg223Trp) rs372152373
NM_002386.4(MC1R):c.753C>T (p.Phe251=)
NM_002386.4(MC1R):c.795C>G (p.Val265=) rs367998996
NM_002386.4(MC1R):c.795C>T (p.Val265=) rs367998996
NM_002397.5(MEF2C):c.1029C>G (p.His343Gln) rs796052727
NM_002397.5(MEF2C):c.1087C>T (p.Leu363Phe) rs2152207244
NM_002397.5(MEF2C):c.1100+6C>G rs1759908843
NM_002397.5(MEF2C):c.1331A>C (p.His444Pro) rs1554098567
NM_002397.5(MEF2C):c.1385T>C (p.Val462Ala) rs1194300256
NM_002397.5(MEF2C):c.253G>T (p.Val85Leu)
NM_002397.5(MEF2C):c.375T>G (p.Asp125Glu) rs2152673396
NM_002397.5(MEF2C):c.439A>G (p.Ile147Val)
NM_002397.5(MEF2C):c.539A>G (p.Asn180Ser)
NM_002397.5(MEF2C):c.557T>C (p.Val186Ala) rs1561821810
NM_002397.5(MEF2C):c.589G>C (p.Gly197Arg) rs1310323196
NM_002397.5(MEF2C):c.638-14dup rs754587449
NM_002397.5(MEF2C):c.638-9del
NM_002397.5(MEF2C):c.694T>G (p.Leu232Val) rs2152280607
NM_002397.5(MEF2C):c.965-6_965-2del rs1064795146
NM_002408.4(MGAT2):c.-351G>T rs116136260
NM_002408.4(MGAT2):c.1233A>T (p.Leu411=) rs563513161
NM_002408.4(MGAT2):c.216G>A (p.Ala72=)
NM_002427.4(MMP13):c.*997dup rs35477433
NM_002437.5(MPV17):c.164T>C (p.Val55Ala) rs575558175
NM_002449.5(MSX2):c.*1006dup rs397692104
NM_002449.5(MSX2):c.*157A>T rs17063878
NM_002449.5(MSX2):c.*172G>A rs577291689
NM_002449.5(MSX2):c.*878C>T rs554272174
NM_002449.5(MSX2):c.-56C>A rs113874536
NM_002449.5(MSX2):c.12G>A (p.Pro4=)
NM_002449.5(MSX2):c.380-18C>T
NM_002449.5(MSX2):c.444C>T (p.Pro148=)
NM_002461.3(MVD):c.232C>A (p.Arg78=) rs2279258
NM_002465.4(MYBPC1):c.2013C>T (p.Asp671=) rs149779416
NM_002470.4(MYH3):c.1960-8del rs3216884
NM_002470.4(MYH3):c.248C>G (p.Pro83Arg) rs199513213
NM_002470.4(MYH3):c.2682+30_2682+31del rs34274020
NM_002470.4(MYH3):c.3138A>C (p.Arg1046=) rs2285475
NM_002470.4(MYH3):c.3445G>C (p.Glu1149Gln) rs145785711
NM_002470.4(MYH3):c.349-94dup rs370073463
NM_002470.4(MYH3):c.3509C>A (p.Ala1170Glu) rs373367650
NM_002470.4(MYH3):c.3718T>A (p.Ser1240Thr) rs752510156
NM_002470.4(MYH3):c.4451A>G (p.Lys1484Arg) rs537656234
NM_002470.4(MYH3):c.4957-115CAAAA[3] rs137999435
NM_002470.4(MYH3):c.5254G>A (p.Ala1752Thr) rs34393601
NM_002470.4(MYH3):c.5562+11C>T rs376208076
NM_002470.4(MYH3):c.5796+30C>T rs12940161
NM_002470.4(MYH3):c.643-43dup rs3214114
NM_002472.3(MYH8):c.3117G>A (p.Gly1039=) rs3744553
NM_002485.5(NBN):c.-37G>A rs543890002
NM_002485.5(NBN):c.1124+91C>A rs1805818
NM_002485.5(NBN):c.1125-7del rs2129722492
NM_002485.5(NBN):c.1125-7dup rs2129722492
NM_002485.5(NBN):c.1398-10dup rs587780555
NM_002485.5(NBN):c.2071-13del rs2130756405
NM_002485.5(NBN):c.320+16del
NM_002485.5(NBN):c.38-11del rs752004731
NM_002485.5(NBN):c.38-11dup rs752004731
NM_002485.5(NBN):c.38-20del rs757737980
NM_002485.5(NBN):c.38-20dup rs757737980
NM_002485.5(NBN):c.703-20dup rs1811468528
NM_002485.5(NBN):c.703-3dup rs1811467593
NM_002485.5(NBN):c.758C>T (p.Thr253Ile) rs61754967
NM_002495.4(NDUFS4):c.-6A>T rs73754255
NM_002495.4(NDUFS4):c.424+19dup rs140172554
NM_002496.4(NDUFS8):c.199+15T>G rs3115545
NM_002524.5(NRAS):c.*346G>A rs9724642
NM_002541.4(OGDH):c.1137C>T (p.Ala379=)
NM_002541.4(OGDH):c.1152G>A (p.Val384=)
NM_002541.4(OGDH):c.2145G>A (p.Val715=)
NM_002541.4(OGDH):c.2632+17T>C
NM_002541.4(OGDH):c.39A>C (p.Pro13=) rs34777281
NM_002541.4(OGDH):c.414+20C>T
NM_002541.4(OGDH):c.518-15C>T
NM_002615.7(SERPINF1):c.167C>G (p.Ala56Gly) rs76119062
NM_002615.7(SERPINF1):c.502G>T (p.Val168Phe) rs1597352279
NM_002615.7(SERPINF1):c.85-14C>A rs200755661
NM_002617.4(PEX10):c.*352G>A rs115735911
NM_002617.4(PEX10):c.777-12del
NM_002617.4(PEX10):c.913-17del
NM_002618.4(PEX13):c.1090G>T (p.Ala364Ser) rs550344775
NM_002618.4(PEX13):c.914-8dup rs36090948
NM_002641.4(PIGA):c.1062T>C (p.Ser354=)
NM_002641.4(PIGA):c.1235G>A (p.Arg412Gln) rs1602206653
NM_002641.4(PIGA):c.1426G>A (p.Glu476Lys)
NM_002641.4(PIGA):c.32A>G (p.His11Arg)
NM_002641.4(PIGA):c.34C>T (p.Arg12Cys)
NM_002641.4(PIGA):c.682A>G (p.Ile228Val)
NM_002641.4(PIGA):c.748C>G (p.Leu250Val)
NM_002641.4(PIGA):c.849-20C>T
NM_002653.5(PITX1):c.793G>A (p.Gly265Ser) rs141612135
NM_002693.3(POLG):c.*49dup rs3087377
NM_002693.3(POLG):c.1170+18dup rs1274781490
NM_002693.3(POLG):c.126GCA[10] (p.Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[13] (p.Gln54_Gln55dup) rs41550117
NM_002693.3(POLG):c.126GCA[1] (p.Gln46_Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[8] (p.Gln53_Gln55del) rs41550117
NM_002693.3(POLG):c.126GCA[9] (p.Gln54_Gln55del) rs41550117
NM_002693.3(POLG):c.153G>A (p.Gln51=) rs1453538834
NM_002693.3(POLG):c.2481-10A>C rs555280530
NM_002693.3(POLG):c.2481-6del
NM_002693.3(POLG):c.264C>T (p.Phe88=) rs144439703
NM_002693.3(POLG):c.2734+39_2734+40insAGGT rs2307433
NM_002693.3(POLG):c.2994G>C (p.Ser998=) rs567030498
NM_002693.3(POLG):c.3105-16_3105-15del rs146915033
NM_002693.3(POLG):c.3483-41A>C rs2307436
NM_002693.3(POLG):c.659+11G>T rs3087379
NM_002693.3(POLG):c.856-17CTC[4] rs200056162
NM_002693.3(POLG):c.970C>T (p.Pro324Ser) rs2307437
NM_002693.3:c.2734+39_2734+40insAGGT rs2152061162
NM_002734.5(PRKAR1A):c.*2188C>G rs6958
NM_002734.5(PRKAR1A):c.*2212C>T rs545517617
NM_002734.5(PRKAR1A):c.*587dup rs398041821
NM_002734.5(PRKAR1A):c.*672T>C rs546125048
NM_002734.5(PRKAR1A):c.-75G>T rs559757120
NM_002734.5(PRKAR1A):c.349-5dup rs3841514
NM_002734.5(PRKAR1A):c.440+15T>C rs78183210
NM_002734.5(PRKAR1A):c.770-9G>T rs562094333
NM_002734.5(PRKAR1A):c.998G>A (p.Arg333His) rs2143389718
NM_002755.4(MAP2K1):c.1068+12_1068+15del rs397516788
NM_002755.4(MAP2K1):c.694-12TC[4] rs113913469
NM_002834.3:c.1-140delG
NM_002834.5(PTPN11):c.*1536T>C rs371375321
NM_002834.5(PTPN11):c.*2629A>G rs141655134
NM_002834.5(PTPN11):c.1221A>G (p.Gly407=) rs532529560
NM_002834.5(PTPN11):c.15-38C>T rs727505378
NM_002834.5(PTPN11):c.53A>G (p.Asn18Ser) rs587778635
NM_002857.4(PEX19):c.181-15A>G rs114403769
NM_002857.4(PEX19):c.30C>T (p.Val10=) rs144440223
NM_002857.4(PEX19):c.726C>T (p.Thr242=) rs564013133
NM_002860.4(ALDH18A1):c.1606-18del rs532582192
NM_002860.4(ALDH18A1):c.1924-11del
NM_002880.4(RAF1):c.*266C>T rs1051208
NM_002880.4(RAF1):c.*606A>G rs556460176
NM_002880.4(RAF1):c.*83C>T rs2229757
NM_002880.4(RAF1):c.-267G>A rs116247741
NM_002880.4(RAF1):c.1108+9_1108+21del rs727504451
NM_002880.4(RAF1):c.1629G>C (p.Thr543=) rs5746244
NM_002880.4(RAF1):c.1668+10_1668+11del rs730880997
NM_002894.3(RBBP8):c.428+37T>C rs2336916
NM_002894.3(RBBP8):c.605-48TCA[2] rs3052770
NM_002968.3(SALL1):c.*588del rs35929381
NM_002968.3(SALL1):c.1731C>G (p.Pro577=) rs767216757
NM_002968.3(SALL1):c.1911G>A (p.Ala637=) rs148595195
NM_002968.3(SALL1):c.1992G>A (p.Pro664=)
NM_002968.3(SALL1):c.2343G>A (p.Leu781=)
NM_002968.3(SALL1):c.2631G>A (p.Leu877=)
NM_002968.3(SALL1):c.3180C>A (p.Leu1060=) rs142054182
NM_002968.3(SALL1):c.448AGC[11] (p.Ser159dup) rs113614842
NM_002968.3(SALL1):c.448AGC[12] (p.Ser158_Ser159dup) rs113614842
NM_002968.3(SALL1):c.448AGC[13] (p.Ser157_Ser159dup) rs113614842
NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del) rs113614842
NM_002968.3(SALL1):c.499A>G (p.Thr167Ala)
NM_003000.2(SDHB):c.424-16_424-14dup rs34261028
NM_003000.3(SDHB):c.264C>G (p.Thr88=) rs41310416
NM_003000.3(SDHB):c.424-37TTC[10] rs34261028
NM_003000.3(SDHB):c.424-37TTC[6] rs34261028
NM_003000.3(SDHB):c.424-37TTC[7] rs34261028
NM_003000.3(SDHB):c.73-29del rs745905902
NM_003000.3(SDHB):c.73-7del rs2101541662
NM_003001.3(SDHC):c.20+11_20+12dup rs35215598
NM_003001.5(SDHC):c.162C>A (p.Pro54=) rs374450282
NM_003001.5(SDHC):c.242-9del
NM_003001.5(SDHC):c.24C>T (p.His8=) rs761381438
NM_003036.4(SKI):c.1311C>G (p.Ala437=) rs140889128
NM_003036.4(SKI):c.1311C>T (p.Ala437=) rs140889128
NM_003036.4(SKI):c.177G>A (p.Ala59=)
NM_003036.4(SKI):c.183G>A (p.Pro61=)
NM_003052.5(SLC34A1):c.1227C>A (p.Gly409=) rs145542852
NM_003052.5(SLC34A1):c.388+10G>C rs59750868
NM_003070.5(SMARCA2):c.*324G>C rs550337302
NM_003070.5(SMARCA2):c.2991+10G>A rs17712152
NM_003070.5(SMARCA2):c.3079-25T>A rs10738570
NM_003070.5(SMARCA2):c.4029T>G (p.Leu1343=) rs150227062
NM_003070.5(SMARCA2):c.4199+46C>T rs2274095
NM_003070.5(SMARCA2):c.4584A>G (p.Ser1528=) rs543880790
NM_003070.5(SMARCA2):c.483G>T (p.Pro161=) rs146359524
NM_003070.5(SMARCA2):c.517C>T (p.Pro173Ser) rs768229159
NM_003070.5(SMARCA2):c.669GCA[10] (p.Gln236_Gln238del) rs113070757
NM_003070.5(SMARCA2):c.669GCA[12] (p.Gln238del) rs113070757
NM_003070.5(SMARCA2):c.750A>G (p.Gln250=) rs62639302
NM_003072.5(SMARCA4):c.120C>T (p.His40=) rs375884151
NM_003072.5(SMARCA4):c.1944-12C>T rs149763341
NM_003072.5(SMARCA4):c.223-4G>A rs763383326
NM_003072.5(SMARCA4):c.2580C>T (p.Tyr860=) rs776649185
NM_003072.5(SMARCA4):c.2763C>T (p.Leu921=) rs574844383
NM_003072.5(SMARCA4):c.4458C>T (p.Ile1486=) rs550796495
NM_003072.5(SMARCA4):c.459G>A (p.Pro153=) rs372931195
NM_003072.5(SMARCA4):c.4773G>A (p.Arg1591=) rs568650875
NM_003072.5(SMARCA4):c.942G>A (p.Ala314=) rs567283924
NM_003073.5(SMARCB1):c.*116dup rs397897183
NM_003079.5(SMARCE1):c.525T>C (p.Pro175=) rs773720929
NM_003098.3(SNTA1):c.*122G>A rs116151218
NM_003098.3(SNTA1):c.312C>T (p.Gly104=) rs533476140
NM_003098.3(SNTA1):c.567A>T (p.Ser189=) rs552315106
NM_003106.4(SOX2):c.348C>A (p.Thr116=)
NM_003106.4(SOX2):c.474C>G (p.Asp158Glu)
NM_003106.4(SOX2):c.694A>G (p.Thr232Ala)
NM_003106.4(SOX2):c.700G>A (p.Gly234Ser)
NM_003106.4(SOX2):c.859G>C (p.Ala287Pro) rs760688357
NM_003106.4(SOX2):c.861C>G (p.Ala287=) rs199971071
NM_003106.4(SOX2):c.909G>C (p.Val303=)
NM_003118.4(SPARC):c.120+42T>C rs2304051
NM_003119.4(SPG7):c.1365G>A (p.Thr455=)
NM_003119.4(SPG7):c.1553-8_1553-7del rs567981282
NM_003119.4(SPG7):c.1780-16_1780-14del rs863224213
NM_003119.4(SPG7):c.184-4del rs5818722
NM_003119.4(SPG7):c.618+11_618+68del rs1555611542
NM_003119.4(SPG7):c.619-47G>A rs3935626
NM_003119.4(SPG7):c.862-34G>T rs4785690
NM_003119.4(SPG7):c.987+5A>G rs4785691
NM_003140.3(SRY):c.-33T>A
NM_003140.3(SRY):c.568A>C (p.Ser190Arg)
NM_003172.2(SURF1):c.-37C>T rs523304
NM_003172.4(SURF1):c.240+6G>A rs587676139
NM_003172.4(SURF1):c.833+10del
NM_003172.4(SURF1):c.834-4dup
NM_003184.4(TAF2):c.1323G>A (p.Leu441=) rs11996390
NM_003184.4(TAF2):c.1340G>C (p.Ser447Thr) rs9297605
NM_003184.4(TAF2):c.2254-17dup rs35033415
NM_003221.4(TFAP2B):c.*912CA[6] rs35649205
NM_003221.4(TFAP2B):c.540+7ACAA[5] rs368226832
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met) rs35766612
NM_003244.4(TGIF1):c.*274del rs34622075
NM_003244.4(TGIF1):c.16+1845C>T rs397515501
NM_003244.4(TGIF1):c.174T>A (p.Arg58=)
NM_003244.4(TGIF1):c.48G>A (p.Glu16=)
NM_003244.4(TGIF1):c.581T>G (p.Val194Gly) rs397515503
NM_003289.4(TPM2):c.*7C>T rs79882576
NM_003289.4(TPM2):c.300C>T (p.Asp100=) rs532190742
NM_003289.4(TPM2):c.375-12C>A
NM_003289.4(TPM2):c.564-19del rs3215700
NM_003289.4(TPM2):c.564-19dup rs3215700
NM_003289.4(TPM2):c.564-20_564-19dup rs3215700
NM_003289.4(TPM2):c.564-6dup rs1439651784
NM_003289.4(TPM2):c.773-3del rs35401252
NM_003289.4(TPM2):c.773-3dup rs35401252
NM_003289.4(TPM2):c.773-4_773-3dup rs35401252
NM_003289.4(TPM2):c.773-5_773-3dup rs35401252
NM_003309.4(TSPYL1):c.523GTG[3] (p.Val176_Lys177insVal) rs56100880
NM_003334.4(UBA1):c.1233+20G>C
NM_003334.4(UBA1):c.1338+23dup
NM_003334.4(UBA1):c.1483G>A (p.Gly495Arg)
NM_003334.4(UBA1):c.15G>A (p.Pro5=)
NM_003334.4(UBA1):c.1695C>T (p.Phe565=) rs782804501
NM_003334.4(UBA1):c.177-13C>T
NM_003334.4(UBA1):c.1836C>G (p.Pro612=)
NM_003334.4(UBA1):c.2003+10T>C
NM_003334.4(UBA1):c.2134C>T (p.His712Tyr)
NM_003334.4(UBA1):c.2275-17G>A
NM_003334.4(UBA1):c.261C>T (p.Ile87=)
NM_003334.4(UBA1):c.2626C>T (p.Pro876Ser)
NM_003334.4(UBA1):c.2646+11T>A rs367788670
NM_003334.4(UBA1):c.2646+11T>C rs367788670
NM_003334.4(UBA1):c.2646+3G>A
NM_003334.4(UBA1):c.2750G>A (p.Arg917Gln)
NM_003334.4(UBA1):c.2823C>T (p.Ala941=)
NM_003334.4(UBA1):c.2839-13_2839-12del
NM_003334.4(UBA1):c.3042-10del
NM_003334.4(UBA1):c.3153C>T (p.Pro1051=)
NM_003334.4(UBA1):c.430G>A (p.Val144Ile) rs781887272
NM_003334.4(UBA1):c.454G>A (p.Val152Ile)
NM_003334.4(UBA1):c.502C>T (p.Pro168Ser)
NM_003334.4(UBA1):c.587+21del
NM_003334.4(UBA1):c.804A>C (p.Lys268Asn)
NM_003383.5(VLDLR):c.-42GGC[5] rs71329437
NM_003383.5(VLDLR):c.-42GGC[9] rs71329437
NM_003384.3(VRK1):c.1160-8del rs2139857568
NM_003384.3(VRK1):c.161-7dup rs1295596727
NM_003384.3(VRK1):c.374+7dup
NM_003384.3(VRK1):c.375-14A>G
NM_003384.3(VRK1):c.483+20_483+22del rs566207500
NM_003384.3(VRK1):c.831-6dup
NM_003392.7(WNT5A):c.*1953dup rs78756487
NM_003392.7(WNT5A):c.*4179dup rs56661203
NM_003413.4(ZIC3):c.*2024G>C rs113057036
NM_003413.4(ZIC3):c.1060+13A>T
NM_003413.4(ZIC3):c.1176G>A (p.Val392=)
NM_003413.4(ZIC3):c.1323C>A (p.Thr441=)
NM_003413.4(ZIC3):c.135CGC[6] (p.Ala53_Ala55del) rs748325646
NM_003413.4(ZIC3):c.676A>C (p.Met226Leu)
NM_003477.2(PDHX):c.-129_-127delCGG rs371074122
NM_003477.2(PDHX):c.-319G>A rs2956113
NM_003477.2(PDHX):c.-506T>C rs2016814
NM_003482.4(KMT2D):c.10025G>A (p.Arg3342His)
NM_003482.4(KMT2D):c.10026C>T (p.Arg3342=)
NM_003482.4(KMT2D):c.10039A>G (p.Met3347Val)
NM_003482.4(KMT2D):c.10043C>T (p.Ala3348Val)
NM_003482.4(KMT2D):c.10123C>T (p.Pro3375Ser)
NM_003482.4(KMT2D):c.10145T>G (p.Met3382Arg) rs745688226
NM_003482.4(KMT2D):c.10150A>T (p.Thr3384Ser)
NM_003482.4(KMT2D):c.10167G>A (p.Met3389Ile)
NM_003482.4(KMT2D):c.10208C>T (p.Ala3403Val)
NM_003482.4(KMT2D):c.10214G>C (p.Ser3405Thr)
NM_003482.4(KMT2D):c.10262T>C (p.Ile3421Thr)
NM_003482.4(KMT2D):c.10273G>A (p.Ala3425Thr)
NM_003482.4(KMT2D):c.10278G>A (p.Lys3426=)
NM_003482.4(KMT2D):c.10294T>C (p.Leu3432=)
NM_003482.4(KMT2D):c.10307A>G (p.Lys3436Arg)
NM_003482.4(KMT2D):c.10314G>C (p.Val3438=)
NM_003482.4(KMT2D):c.10326C>T (p.Gly3442=)
NM_003482.4(KMT2D):c.1033C>G (p.Leu345Val)
NM_003482.4(KMT2D):c.10342C>A (p.Pro3448Thr)
NM_003482.4(KMT2D):c.10391G>A (p.Gly3464Glu) rs991074174
NM_003482.4(KMT2D):c.10394G>T (p.Gly3465Val)
NM_003482.4(KMT2D):c.1040A>G (p.His347Arg)
NM_003482.4(KMT2D):c.1043G>A (p.Arg348His)
NM_003482.4(KMT2D):c.10441-9T>A rs572158148
NM_003482.4(KMT2D):c.10451C>T (p.Ala3484Val)
NM_003482.4(KMT2D):c.10495C>A (p.Gln3499Lys)
NM_003482.4(KMT2D):c.104A>G (p.Asn35Ser)
NM_003482.4(KMT2D):c.10536G>A (p.Glu3512=)
NM_003482.4(KMT2D):c.10551C>T (p.Thr3517=)
NM_003482.4(KMT2D):c.10683T>C (p.Ala3561=)
NM_003482.4(KMT2D):c.10697T>G (p.Leu3566Arg)
NM_003482.4(KMT2D):c.1076G>A (p.Arg359His) rs779668384
NM_003482.4(KMT2D):c.1076G>C (p.Arg359Pro)
NM_003482.4(KMT2D):c.1078T>A (p.Ser360Thr) rs763806964
NM_003482.4(KMT2D):c.107C>T (p.Pro36Leu)
NM_003482.4(KMT2D):c.1081G>A (p.Val361Ile)
NM_003482.4(KMT2D):c.10843G>A (p.Ala3615Thr)
NM_003482.4(KMT2D):c.10847T>C (p.Val3616Ala)
NM_003482.4(KMT2D):c.10876C>T (p.Arg3626Trp)
NM_003482.4(KMT2D):c.1091A>G (p.Gln364Arg)
NM_003482.4(KMT2D):c.10942C>T (p.Pro3648Ser)
NM_003482.4(KMT2D):c.10943C>T (p.Pro3648Leu)
NM_003482.4(KMT2D):c.10967G>A (p.Arg3656His)
NM_003482.4(KMT2D):c.10979G>A (p.Gly3660Glu)
NM_003482.4(KMT2D):c.10981G>A (p.Gly3661Ser)
NM_003482.4(KMT2D):c.11011C>G (p.Pro3671Ala)
NM_003482.4(KMT2D):c.11023A>G (p.Thr3675Ala)
NM_003482.4(KMT2D):c.11067T>C (p.Ala3689=)
NM_003482.4(KMT2D):c.11081G>A (p.Gly3694Asp)
NM_003482.4(KMT2D):c.11095T>G (p.Phe3699Val)
NM_003482.4(KMT2D):c.11124C>T (p.Ser3708=)
NM_003482.4(KMT2D):c.11132C>A (p.Pro3711His)
NM_003482.4(KMT2D):c.11150A>G (p.Gln3717Arg) rs398123705
NM_003482.4(KMT2D):c.11160G>C (p.Gln3720His)
NM_003482.4(KMT2D):c.11161C>G (p.Leu3721Val) rs2120443860
NM_003482.4(KMT2D):c.11163G>A (p.Leu3721=)
NM_003482.4(KMT2D):c.11195A>T (p.Gln3732Leu)
NM_003482.4(KMT2D):c.11257A>G (p.Ile3753Val)
NM_003482.4(KMT2D):c.11319C>T (p.Pro3773=)
NM_003482.4(KMT2D):c.11331G>A (p.Met3777Ile)
NM_003482.4(KMT2D):c.11378A>C (p.Gln3793Pro)
NM_003482.4(KMT2D):c.11456G>A (p.Gly3819Asp)
NM_003482.4(KMT2D):c.11463G>A (p.Gln3821=)
NM_003482.4(KMT2D):c.11465G>A (p.Gly3822Asp)
NM_003482.4(KMT2D):c.11498G>A (p.Arg3833Gln)
NM_003482.4(KMT2D):c.114G>A (p.Val38=)
NM_003482.4(KMT2D):c.1153C>T (p.Pro385Ser)
NM_003482.4(KMT2D):c.11543T>C (p.Met3848Thr)
NM_003482.4(KMT2D):c.11552G>A (p.Arg3851Lys)
NM_003482.4(KMT2D):c.11559C>T (p.Val3853=)
NM_003482.4(KMT2D):c.1155C>T (p.Pro385=) rs545791832
NM_003482.4(KMT2D):c.1156G>A (p.Asp386Asn)
NM_003482.4(KMT2D):c.11578C>G (p.Gln3860Glu)
NM_003482.4(KMT2D):c.11586A>G (p.Gln3862=)
NM_003482.4(KMT2D):c.11589G>C (p.Gln3863His)
NM_003482.4(KMT2D):c.11594A>G (p.Gln3865Arg)
NM_003482.4(KMT2D):c.11616G>A (p.Gly3872=)
NM_003482.4(KMT2D):c.11658G>T (p.Gln3886His)
NM_003482.4(KMT2D):c.11667G>C (p.Leu3889=)
NM_003482.4(KMT2D):c.1167C>T (p.Tyr389=)
NM_003482.4(KMT2D):c.11680A>G (p.Met3894Val)
NM_003482.4(KMT2D):c.11687C>G (p.Ser3896Cys)
NM_003482.4(KMT2D):c.11695C>A (p.Gln3899Lys)
NM_003482.4(KMT2D):c.11696A>G (p.Gln3899Arg)
NM_003482.4(KMT2D):c.11704C>G (p.Gln3902Glu)
NM_003482.4(KMT2D):c.11738AGC[8] (p.Gln3919dup) rs576788910
NM_003482.4(KMT2D):c.1174T>C (p.Cys392Arg)
NM_003482.4(KMT2D):c.1193G>A (p.Gly398Asp)
NM_003482.4(KMT2D):c.11945G>A (p.Arg3982Gln)
NM_003482.4(KMT2D):c.11989C>T (p.Leu3997Phe)
NM_003482.4(KMT2D):c.12008C>T (p.Ala4003Val)
NM_003482.4(KMT2D):c.1200C>T (p.His400=)
NM_003482.4(KMT2D):c.12017T>G (p.Leu4006Arg)
NM_003482.4(KMT2D):c.12053C>T (p.Thr4018Ile) rs1304208223
NM_003482.4(KMT2D):c.12061C>T (p.Leu4021=)
NM_003482.4(KMT2D):c.12065C>T (p.Thr4022Met) rs368743947
NM_003482.4(KMT2D):c.12066G>A (p.Thr4022=)
NM_003482.4(KMT2D):c.12097G>A (p.Val4033Ile)
NM_003482.4(KMT2D):c.120G>C (p.Glu40Asp)
NM_003482.4(KMT2D):c.1210A>G (p.Met404Val)
NM_003482.4(KMT2D):c.12143C>T (p.Pro4048Leu) rs527255553
NM_003482.4(KMT2D):c.12152T>A (p.Ile4051Lys)
NM_003482.4(KMT2D):c.12155G>A (p.Gly4052Glu)
NM_003482.4(KMT2D):c.12174G>A (p.Met4058Ile)
NM_003482.4(KMT2D):c.12204A>T (p.Ser4068=)
NM_003482.4(KMT2D):c.12222A>G (p.Gln4074=)
NM_003482.4(KMT2D):c.12245C>G (p.Pro4082Arg)
NM_003482.4(KMT2D):c.1226C>T (p.Pro409Leu)
NM_003482.4(KMT2D):c.12282T>A (p.Pro4094=)
NM_003482.4(KMT2D):c.12292C>T (p.Pro4098Ser)
NM_003482.4(KMT2D):c.12302A>C (p.Gln4101Pro)
NM_003482.4(KMT2D):c.12329C>T (p.Thr4110Ile) rs764450813
NM_003482.4(KMT2D):c.12337G>A (p.Gly4113Arg)
NM_003482.4(KMT2D):c.12339A>G (p.Gly4113=) rs758558608
NM_003482.4(KMT2D):c.12369A>G (p.Ser4123=)
NM_003482.4(KMT2D):c.12422T>C (p.Leu4141Ser) rs1161756302
NM_003482.4(KMT2D):c.12463C>A (p.Pro4155Thr)
NM_003482.4(KMT2D):c.12470A>C (p.Gln4157Pro) rs2120429692
NM_003482.4(KMT2D):c.12483G>A (p.Glu4161=)
NM_003482.4(KMT2D):c.12484C>T (p.Arg4162Trp)
NM_003482.4(KMT2D):c.12486G>T (p.Arg4162=)
NM_003482.4(KMT2D):c.12512A>G (p.Gln4171Arg)
NM_003482.4(KMT2D):c.12524C>T (p.Pro4175Leu)
NM_003482.4(KMT2D):c.12544G>T (p.Gly4182Trp)
NM_003482.4(KMT2D):c.12549G>T (p.Gln4183His)
NM_003482.4(KMT2D):c.12565G>A (p.Gly4189Arg)
NM_003482.4(KMT2D):c.12596C>T (p.Ala4199Val) rs2120428340
NM_003482.4(KMT2D):c.12606A>G (p.Gln4202=)
NM_003482.4(KMT2D):c.12608G>C (p.Gly4203Ala)
NM_003482.4(KMT2D):c.12609A>C (p.Gly4203=)
NM_003482.4(KMT2D):c.12635G>A (p.Arg4212Gln) rs772665565
NM_003482.4(KMT2D):c.12663G>C (p.Gln4221His)
NM_003482.4(KMT2D):c.12679A>G (p.Met4227Val)
NM_003482.4(KMT2D):c.12699G>C (p.Gln4233His)
NM_003482.4(KMT2D):c.12725C>T (p.Pro4242Leu)
NM_003482.4(KMT2D):c.12741G>C (p.Gly4247=)
NM_003482.4(KMT2D):c.12744C>T (p.Thr4248=)
NM_003482.4(KMT2D):c.1274A>G (p.Gln425Arg) rs1278926525
NM_003482.4(KMT2D):c.12752C>T (p.Ser4251Phe)
NM_003482.4(KMT2D):c.12764G>A (p.Gly4255Asp)
NM_003482.4(KMT2D):c.1277T>C (p.Leu426Pro)
NM_003482.4(KMT2D):c.12780A>T (p.Gln4260His) rs555842651
NM_003482.4(KMT2D):c.12793G>A (p.Gly4265Ser)
NM_003482.4(KMT2D):c.12815G>A (p.Gly4272Asp) rs763518333
NM_003482.4(KMT2D):c.1282C>T (p.Pro428Ser)
NM_003482.4(KMT2D):c.12838G>C (p.Gly4280Arg)
NM_003482.4(KMT2D):c.12845G>A (p.Arg4282Gln)
NM_003482.4(KMT2D):c.12859C>A (p.Pro4287Thr)
NM_003482.4(KMT2D):c.12863G>A (p.Arg4288Gln)
NM_003482.4(KMT2D):c.1288T>C (p.Leu430=)
NM_003482.4(KMT2D):c.12891T>G (p.Ser4297=)
NM_003482.4(KMT2D):c.12910C>T (p.Pro4304Ser)
NM_003482.4(KMT2D):c.12917A>C (p.His4306Pro)
NM_003482.4(KMT2D):c.12928C>T (p.Pro4310Ser)
NM_003482.4(KMT2D):c.1295C>T (p.Ala432Val)
NM_003482.4(KMT2D):c.12986A>G (p.Gln4329Arg)
NM_003482.4(KMT2D):c.13036C>T (p.Pro4346Ser)
NM_003482.4(KMT2D):c.13045C>A (p.Pro4349Thr) rs181733689
NM_003482.4(KMT2D):c.13060C>T (p.Pro4354Ser)
NM_003482.4(KMT2D):c.1306G>A (p.Glu436Lys)
NM_003482.4(KMT2D):c.13117G>A (p.Gly4373Ser)
NM_003482.4(KMT2D):c.13139C>T (p.Pro4380Leu)
NM_003482.4(KMT2D):c.13172A>G (p.Gln4391Arg) rs2120420981
NM_003482.4(KMT2D):c.13221G>A (p.Val4407=)
NM_003482.4(KMT2D):c.13240A>G (p.Ser4414Gly)
NM_003482.4(KMT2D):c.13247A>G (p.Lys4416Arg)
NM_003482.4(KMT2D):c.13271G>A (p.Cys4424Tyr)
NM_003482.4(KMT2D):c.13302G>A (p.Glu4434=)
NM_003482.4(KMT2D):c.13316C>T (p.Pro4439Leu)
NM_003482.4(KMT2D):c.13331G>C (p.Gly4444Ala) rs748820389
NM_003482.4(KMT2D):c.13339A>G (p.Asn4447Asp)
NM_003482.4(KMT2D):c.13340A>G (p.Asn4447Ser)
NM_003482.4(KMT2D):c.13355C>G (p.Ala4452Gly)
NM_003482.4(KMT2D):c.13363C>T (p.Arg4455Cys)
NM_003482.4(KMT2D):c.13364G>T (p.Arg4455Leu)
NM_003482.4(KMT2D):c.13377G>A (p.Gly4459=)
NM_003482.4(KMT2D):c.13390C>G (p.Gln4464Glu)
NM_003482.4(KMT2D):c.13403G>A (p.Arg4468Gln)
NM_003482.4(KMT2D):c.13421T>G (p.Leu4474Arg)
NM_003482.4(KMT2D):c.13423A>G (p.Ser4475Gly)
NM_003482.4(KMT2D):c.13432C>T (p.Arg4478Trp)
NM_003482.4(KMT2D):c.13434G>A (p.Arg4478=)
NM_003482.4(KMT2D):c.13437G>A (p.Gly4479=)
NM_003482.4(KMT2D):c.13441G>A (p.Glu4481Lys)
NM_003482.4(KMT2D):c.13446G>A (p.Gly4482=)
NM_003482.4(KMT2D):c.13451G>A (p.Arg4484Gln) rs1480605988
NM_003482.4(KMT2D):c.13454C>G (p.Ala4485Gly)
NM_003482.4(KMT2D):c.13476C>T (p.Asp4492=)
NM_003482.4(KMT2D):c.13516C>T (p.Pro4506Ser)
NM_003482.4(KMT2D):c.13570C>T (p.Arg4524Trp)
NM_003482.4(KMT2D):c.13586G>A (p.Ser4529Asn)
NM_003482.4(KMT2D):c.13610A>G (p.Lys4537Arg)
NM_003482.4(KMT2D):c.13632G>A (p.Gly4544=)
NM_003482.4(KMT2D):c.13633G>A (p.Val4545Ile)
NM_003482.4(KMT2D):c.13654C>T (p.Leu4552=)
NM_003482.4(KMT2D):c.13668A>T (p.Lys4556Asn)
NM_003482.4(KMT2D):c.13671+10dup rs147210845
NM_003482.4(KMT2D):c.1369C>T (p.Pro457Ser)
NM_003482.4(KMT2D):c.13723C>T (p.Leu4575Phe)
NM_003482.4(KMT2D):c.1376C>A (p.Ser459Tyr)
NM_003482.4(KMT2D):c.1376C>T (p.Ser459Phe)
NM_003482.4(KMT2D):c.13828C>T (p.Leu4610=)
NM_003482.4(KMT2D):c.13836C>T (p.Thr4612=)
NM_003482.4(KMT2D):c.13840-10dup
NM_003482.4(KMT2D):c.13840-8dup rs746536071
NM_003482.4(KMT2D):c.13871C>T (p.Ser4624Leu) rs886043233
NM_003482.4(KMT2D):c.13912A>T (p.Met4638Leu)
NM_003482.4(KMT2D):c.13923C>T (p.Gly4641=)
NM_003482.4(KMT2D):c.13964C>T (p.Ala4655Val) rs575126048
NM_003482.4(KMT2D):c.13973C>T (p.Ala4658Val)
NM_003482.4(KMT2D):c.13978G>C (p.Asp4660His)
NM_003482.4(KMT2D):c.14076-3dup
NM_003482.4(KMT2D):c.14098G>A (p.Asp4700Asn)
NM_003482.4(KMT2D):c.14107G>T (p.Asp4703Tyr) rs2120393942
NM_003482.4(KMT2D):c.14122G>A (p.Ala4708Thr)
NM_003482.4(KMT2D):c.14146G>T (p.Gly4716Trp)
NM_003482.4(KMT2D):c.14197G>A (p.Glu4733Lys)
NM_003482.4(KMT2D):c.14204G>A (p.Arg4735Gln)
NM_003482.4(KMT2D):c.14237G>A (p.Arg4746Gln)
NM_003482.4(KMT2D):c.14273A>G (p.Tyr4758Cys)
NM_003482.4(KMT2D):c.14295C>A (p.Val4765=)
NM_003482.4(KMT2D):c.14371G>A (p.Ala4791Thr)
NM_003482.4(KMT2D):c.14409G>A (p.Val4803=)
NM_003482.4(KMT2D):c.14412G>A (p.Ala4804=)
NM_003482.4(KMT2D):c.14425A>T (p.Met4809Leu)
NM_003482.4(KMT2D):c.14438A>G (p.Asn4813Ser)
NM_003482.4(KMT2D):c.14454G>A (p.Leu4818=)
NM_003482.4(KMT2D):c.14469C>T (p.Pro4823=)
NM_003482.4(KMT2D):c.14481C>T (p.Gly4827=)
NM_003482.4(KMT2D):c.14491A>C (p.Lys4831Gln)
NM_003482.4(KMT2D):c.14497G>C (p.Gly4833Arg)
NM_003482.4(KMT2D):c.14503G>A (p.Ala4835Thr)
NM_003482.4(KMT2D):c.14506G>A (p.Glu4836Lys)
NM_003482.4(KMT2D):c.14520G>A (p.Gly4840=)
NM_003482.4(KMT2D):c.14526A>G (p.Glu4842=)
NM_003482.4(KMT2D):c.14549C>G (p.Pro4850Arg)
NM_003482.4(KMT2D):c.14578T>C (p.Phe4860Leu)
NM_003482.4(KMT2D):c.145C>A (p.Pro49Thr)
NM_003482.4(KMT2D):c.1460G>A (p.Arg487Gln)
NM_003482.4(KMT2D):c.14651C>T (p.Pro4884Leu)
NM_003482.4(KMT2D):c.14653G>A (p.Ala4885Thr)
NM_003482.4(KMT2D):c.14690A>G (p.Asn4897Ser)
NM_003482.4(KMT2D):c.14699A>G (p.Asn4900Ser)
NM_003482.4(KMT2D):c.14711G>A (p.Arg4904Gln)
NM_003482.4(KMT2D):c.14720C>T (p.Ser4907Leu)
NM_003482.4(KMT2D):c.14740C>T (p.Pro4914Ser)
NM_003482.4(KMT2D):c.1476G>A (p.Ser492=)
NM_003482.4(KMT2D):c.14784C>T (p.Pro4928=)
NM_003482.4(KMT2D):c.14801T>C (p.Val4934Ala)
NM_003482.4(KMT2D):c.14810C>T (p.Pro4937Leu)
NM_003482.4(KMT2D):c.14815G>A (p.Glu4939Lys)
NM_003482.4(KMT2D):c.14817A>G (p.Glu4939=)
NM_003482.4(KMT2D):c.14824G>C (p.Ala4942Pro)
NM_003482.4(KMT2D):c.14835C>T (p.Pro4945=)
NM_003482.4(KMT2D):c.14865C>G (p.Ser4955=)
NM_003482.4(KMT2D):c.14879G>A (p.Arg4960Gln)
NM_003482.4(KMT2D):c.14924G>A (p.Arg4975His)
NM_003482.4(KMT2D):c.14932C>T (p.Arg4978Cys)
NM_003482.4(KMT2D):c.14953G>A (p.Val4985Met)
NM_003482.4(KMT2D):c.14953G>C (p.Val4985Leu)
NM_003482.4(KMT2D):c.14957G>A (p.Arg4986His)
NM_003482.4(KMT2D):c.15005G>A (p.Arg5002Gln)
NM_003482.4(KMT2D):c.15022G>A (p.Glu5008Lys)
NM_003482.4(KMT2D):c.15086T>C (p.Met5029Thr)
NM_003482.4(KMT2D):c.1516C>T (p.Pro506Ser)
NM_003482.4(KMT2D):c.1517C>G (p.Pro506Arg)
NM_003482.4(KMT2D):c.15207G>C (p.Val5069=)
NM_003482.4(KMT2D):c.15251T>G (p.Leu5084Arg)
NM_003482.4(KMT2D):c.15272A>G (p.Lys5091Arg)
NM_003482.4(KMT2D):c.15290G>A (p.Arg5097Gln)
NM_003482.4(KMT2D):c.15312C>T (p.Cys5104=)
NM_003482.4(KMT2D):c.15314A>G (p.Asn5105Ser)
NM_003482.4(KMT2D):c.15317G>A (p.Arg5106His) rs587778486
NM_003482.4(KMT2D):c.15359G>A (p.Arg5120His)
NM_003482.4(KMT2D):c.15366G>A (p.Lys5122=)
NM_003482.4(KMT2D):c.15404T>C (p.Met5135Thr)
NM_003482.4(KMT2D):c.1540C>T (p.Pro514Ser)
NM_003482.4(KMT2D):c.15468C>T (p.Tyr5156=)
NM_003482.4(KMT2D):c.15529A>G (p.Met5177Val)
NM_003482.4(KMT2D):c.15537T>C (p.Arg5179=)
NM_003482.4(KMT2D):c.1553C>T (p.Ser518Leu)
NM_003482.4(KMT2D):c.15550G>C (p.Val5184Leu)
NM_003482.4(KMT2D):c.15555C>T (p.Phe5185=) rs575965702
NM_003482.4(KMT2D):c.15562A>G (p.Ile5188Val)
NM_003482.4(KMT2D):c.155A>G (p.Gln52Arg)
NM_003482.4(KMT2D):c.15636C>T (p.Ala5212=)
NM_003482.4(KMT2D):c.15668A>G (p.Asn5223Ser) rs779303083
NM_003482.4(KMT2D):c.15687C>T (p.Arg5229=)
NM_003482.4(KMT2D):c.15691T>G (p.Ser5231Ala)
NM_003482.4(KMT2D):c.15713G>A (p.Arg5238Gln)
NM_003482.4(KMT2D):c.15729C>T (p.Ile5243=)
NM_003482.4(KMT2D):c.15731A>G (p.Lys5244Arg)
NM_003482.4(KMT2D):c.15760G>A (p.Val5254Ile)
NM_003482.4(KMT2D):c.15772G>A (p.Ala5258Thr)
NM_003482.4(KMT2D):c.15796C>T (p.Arg5266Cys)
NM_003482.4(KMT2D):c.1579C>A (p.Pro527Thr)
NM_003482.4(KMT2D):c.15807G>T (p.Glu5269Asp)
NM_003482.4(KMT2D):c.15855T>G (p.Pro5285=)
NM_003482.4(KMT2D):c.15876G>A (p.Glu5292=)
NM_003482.4(KMT2D):c.15891G>A (p.Thr5297=)
NM_003482.4(KMT2D):c.15900C>G (p.Ala5300=)
NM_003482.4(KMT2D):c.16110C>T (p.Gly5370=)
NM_003482.4(KMT2D):c.16117A>C (p.Asn5373His)
NM_003482.4(KMT2D):c.16155A>G (p.Ser5385=)
NM_003482.4(KMT2D):c.1620T>C (p.Pro540=)
NM_003482.4(KMT2D):c.16212C>T (p.Ser5404=)
NM_003482.4(KMT2D):c.16213C>T (p.Arg5405Cys)
NM_003482.4(KMT2D):c.1626A>G (p.Ala542=)
NM_003482.4(KMT2D):c.16272C>T (p.Ile5424=)
NM_003482.4(KMT2D):c.16314G>A (p.Arg5438=)
NM_003482.4(KMT2D):c.16329C>T (p.Tyr5443=)
NM_003482.4(KMT2D):c.16339-22_16339-20del
NM_003482.4(KMT2D):c.16392G>A (p.Thr5464=)
NM_003482.4(KMT2D):c.16412+16del rs34546217
NM_003482.4(KMT2D):c.16461A>G (p.Thr5487=)
NM_003482.4(KMT2D):c.1646T>C (p.Phe549Ser)
NM_003482.4(KMT2D):c.1671A>C (p.Pro557=)
NM_003482.4(KMT2D):c.1694C>T (p.Pro565Leu)
NM_003482.4(KMT2D):c.1712G>A (p.Arg571His)
NM_003482.4(KMT2D):c.1715T>C (p.Leu572Pro)
NM_003482.4(KMT2D):c.1741A>G (p.Met581Val)
NM_003482.4(KMT2D):c.1759G>A (p.Glu587Lys)
NM_003482.4(KMT2D):c.1763C>T (p.Ser588Leu)
NM_003482.4(KMT2D):c.1773T>C (p.Ser591=)
NM_003482.4(KMT2D):c.1782G>A (p.Pro594=)
NM_003482.4(KMT2D):c.1792C>T (p.Arg598Cys)
NM_003482.4(KMT2D):c.1816T>C (p.Ser606Pro)
NM_003482.4(KMT2D):c.1820C>T (p.Pro607Leu)
NM_003482.4(KMT2D):c.186G>A (p.Pro62=)
NM_003482.4(KMT2D):c.1898C>T (p.Ser633Leu)
NM_003482.4(KMT2D):c.1899G>A (p.Ser633=)
NM_003482.4(KMT2D):c.190C>T (p.Arg64Trp)
NM_003482.4(KMT2D):c.1912C>G (p.Pro638Ala) rs372919446
NM_003482.4(KMT2D):c.1913C>G (p.Pro638Arg)
NM_003482.4(KMT2D):c.1935C>G (p.Ser645=)
NM_003482.4(KMT2D):c.193C>T (p.Arg65Cys)
NM_003482.4(KMT2D):c.194G>A (p.Arg65His)
NM_003482.4(KMT2D):c.195T>C (p.Arg65=)
NM_003482.4(KMT2D):c.1961C>T (p.Ser654Phe)
NM_003482.4(KMT2D):c.1982G>A (p.Arg661His)
NM_003482.4(KMT2D):c.2012T>C (p.Leu671Ser)
NM_003482.4(KMT2D):c.2021C>T (p.Pro674Leu)
NM_003482.4(KMT2D):c.2025T>G (p.Pro675=)
NM_003482.4(KMT2D):c.2028G>A (p.Glu676=)
NM_003482.4(KMT2D):c.2039C>T (p.Thr680Met)
NM_003482.4(KMT2D):c.2043C>G (p.Ser681=)
NM_003482.4(KMT2D):c.2063G>A (p.Arg688His)
NM_003482.4(KMT2D):c.2063G>T (p.Arg688Leu)
NM_003482.4(KMT2D):c.2064C>T (p.Arg688=)
NM_003482.4(KMT2D):c.2071C>T (p.Pro691Ser)
NM_003482.4(KMT2D):c.2089C>T (p.Pro697Ser)
NM_003482.4(KMT2D):c.2096C>G (p.Ser699Cys)
NM_003482.4(KMT2D):c.2125C>T (p.Pro709Ser)
NM_003482.4(KMT2D):c.2142G>A (p.Ser714=)
NM_003482.4(KMT2D):c.2147T>C (p.Met716Thr)
NM_003482.4(KMT2D):c.2174T>A (p.Leu725Gln)
NM_003482.4(KMT2D):c.2194C>A (p.Pro732Thr)
NM_003482.4(KMT2D):c.2195C>T (p.Pro732Leu)
NM_003482.4(KMT2D):c.2210G>A (p.Arg737Gln)
NM_003482.4(KMT2D):c.2237G>C (p.Arg746Pro)
NM_003482.4(KMT2D):c.2249C>T (p.Pro750Leu)
NM_003482.4(KMT2D):c.2250_2276del (p.746RPEEPHLSP[1]) rs587778449
NM_003482.4(KMT2D):c.2263C>G (p.Arg755Gly)
NM_003482.4(KMT2D):c.2263C>T (p.Arg755Trp)
NM_003482.4(KMT2D):c.2264G>A (p.Arg755Gln) rs776110112
NM_003482.4(KMT2D):c.2269G>C (p.Glu757Gln) rs2120669766
NM_003482.4(KMT2D):c.226C>T (p.Leu76=)
NM_003482.4(KMT2D):c.2280C>T (p.His760=)
NM_003482.4(KMT2D):c.2283_2309del (p.Ala765_Gln773del) rs375538882
NM_003482.4(KMT2D):c.2288C>T (p.Pro763Leu)
NM_003482.4(KMT2D):c.2331A>G (p.Pro777=)
NM_003482.4(KMT2D):c.2332T>C (p.Cys778Arg)
NM_003482.4(KMT2D):c.2337A>G (p.Leu779=)
NM_003482.4(KMT2D):c.2341G>A (p.Ala781Thr)
NM_003482.4(KMT2D):c.2356C>G (p.Pro786Ala)
NM_003482.4(KMT2D):c.2374G>A (p.Ala792Thr)
NM_003482.4(KMT2D):c.2379G>A (p.Glu793=)
NM_003482.4(KMT2D):c.238C>T (p.Arg80Trp)
NM_003482.4(KMT2D):c.2424C>A (p.Pro808=)
NM_003482.4(KMT2D):c.2455C>A (p.Pro819Thr)
NM_003482.4(KMT2D):c.2470T>C (p.Leu824=)
NM_003482.4(KMT2D):c.2481A>G (p.Gln827=)
NM_003482.4(KMT2D):c.2493A>G (p.Ser831=)
NM_003482.4(KMT2D):c.2496C>T (p.His832=)
NM_003482.4(KMT2D):c.2515G>A (p.Glu839Lys)
NM_003482.4(KMT2D):c.2534G>A (p.Arg845Gln)
NM_003482.4(KMT2D):c.2551C>G (p.Leu851Val)
NM_003482.4(KMT2D):c.2551C>T (p.Leu851=) rs186151848
NM_003482.4(KMT2D):c.2585C>A (p.Pro862His) rs1937953186
NM_003482.4(KMT2D):c.2587C>T (p.Arg863Trp)
NM_003482.4(KMT2D):c.2588G>A (p.Arg863Gln) rs747921601
NM_003482.4(KMT2D):c.2588G>C (p.Arg863Pro)
NM_003482.4(KMT2D):c.258G>A (p.Glu86=)
NM_003482.4(KMT2D):c.2637G>A (p.Glu879=)
NM_003482.4(KMT2D):c.2649C>T (p.Phe883=)
NM_003482.4(KMT2D):c.2654C>T (p.Pro885Leu)
NM_003482.4(KMT2D):c.2655C>T (p.Pro885=)
NM_003482.4(KMT2D):c.2656C>A (p.Pro886Thr) rs199946966
NM_003482.4(KMT2D):c.2691G>A (p.Glu897=)
NM_003482.4(KMT2D):c.2745G>A (p.Leu915=)
NM_003482.4(KMT2D):c.2747C>T (p.Pro916Leu)
NM_003482.4(KMT2D):c.2752T>G (p.Ser918Ala)
NM_003482.4(KMT2D):c.2755C>G (p.Pro919Ala)
NM_003482.4(KMT2D):c.2772C>G (p.Ser924=)
NM_003482.4(KMT2D):c.2777C>T (p.Ser926Leu)
NM_003482.4(KMT2D):c.2778G>A (p.Ser926=)
NM_003482.4(KMT2D):c.277C>T (p.Arg93Trp)
NM_003482.4(KMT2D):c.2792C>T (p.Pro931Leu)
NM_003482.4(KMT2D):c.2798-7del rs112620957
NM_003482.4(KMT2D):c.279G>A (p.Arg93=)
NM_003482.4(KMT2D):c.2823C>T (p.Pro941=)
NM_003482.4(KMT2D):c.2837C>T (p.Ala946Val)
NM_003482.4(KMT2D):c.2846C>A (p.Pro949Gln)
NM_003482.4(KMT2D):c.2846C>T (p.Pro949Leu)
NM_003482.4(KMT2D):c.2849C>T (p.Ala950Val)
NM_003482.4(KMT2D):c.286G>A (p.Val96Met)
NM_003482.4(KMT2D):c.2897A>T (p.Asp966Val)
NM_003482.4(KMT2D):c.2915C>T (p.Pro972Leu)
NM_003482.4(KMT2D):c.2926C>G (p.Pro976Ala)
NM_003482.4(KMT2D):c.2944A>G (p.Ile982Val)
NM_003482.4(KMT2D):c.2988C>T (p.Val996=)
NM_003482.4(KMT2D):c.2992C>G (p.Pro998Ala) rs143711798
NM_003482.4(KMT2D):c.2992C>T (p.Pro998Ser) rs143711798
NM_003482.4(KMT2D):c.3033G>A (p.Pro1011=)
NM_003482.4(KMT2D):c.3036T>G (p.Ala1012=)
NM_003482.4(KMT2D):c.3040C>T (p.Pro1014Ser)
NM_003482.4(KMT2D):c.305G>A (p.Ser102Asn) rs368471915
NM_003482.4(KMT2D):c.3070T>C (p.Cys1024Arg)
NM_003482.4(KMT2D):c.3073T>C (p.Ser1025Pro)
NM_003482.4(KMT2D):c.3097G>A (p.Val1033Ile)
NM_003482.4(KMT2D):c.3115C>T (p.Pro1039Ser)
NM_003482.4(KMT2D):c.3129T>C (p.Ser1043=)
NM_003482.4(KMT2D):c.3150C>T (p.Ser1050=)
NM_003482.4(KMT2D):c.317A>G (p.Asn106Ser)
NM_003482.4(KMT2D):c.3214G>A (p.Glu1072Lys)
NM_003482.4(KMT2D):c.3241C>A (p.Pro1081Thr)
NM_003482.4(KMT2D):c.326T>C (p.Val109Ala) rs772169265
NM_003482.4(KMT2D):c.3292A>G (p.Met1098Val)
NM_003482.4(KMT2D):c.3294G>T (p.Met1098Ile)
NM_003482.4(KMT2D):c.3300C>G (p.Asp1100Glu)
NM_003482.4(KMT2D):c.3305C>G (p.Ser1102Cys)
NM_003482.4(KMT2D):c.3316C>G (p.Pro1106Ala)
NM_003482.4(KMT2D):c.3337G>C (p.Asp1113His)
NM_003482.4(KMT2D):c.3337G>T (p.Asp1113Tyr)
NM_003482.4(KMT2D):c.3358G>A (p.Glu1120Lys)
NM_003482.4(KMT2D):c.3365C>T (p.Thr1122Ile)
NM_003482.4(KMT2D):c.3370C>T (p.Pro1124Ser)
NM_003482.4(KMT2D):c.3383T>C (p.Ile1128Thr)
NM_003482.4(KMT2D):c.3388G>A (p.Ala1130Thr)
NM_003482.4(KMT2D):c.3392C>G (p.Pro1131Arg)
NM_003482.4(KMT2D):c.3392C>T (p.Pro1131Leu) rs201623566
NM_003482.4(KMT2D):c.3393G>A (p.Pro1131=)
NM_003482.4(KMT2D):c.3408G>A (p.Glu1136=) rs372234918
NM_003482.4(KMT2D):c.3410C>G (p.Pro1137Arg)
NM_003482.4(KMT2D):c.343C>T (p.Leu115=)
NM_003482.4(KMT2D):c.3453C>A (p.Ser1151=)
NM_003482.4(KMT2D):c.3481G>A (p.Ala1161Thr)
NM_003482.4(KMT2D):c.3511G>A (p.Glu1171Lys)
NM_003482.4(KMT2D):c.3515G>A (p.Cys1172Tyr)
NM_003482.4(KMT2D):c.3519G>A (p.Lys1173=)
NM_003482.4(KMT2D):c.3544T>C (p.Cys1182Arg)
NM_003482.4(KMT2D):c.3605C>G (p.Ser1202Cys)
NM_003482.4(KMT2D):c.3619G>A (p.Glu1207Lys)
NM_003482.4(KMT2D):c.3647C>T (p.Ala1216Val)
NM_003482.4(KMT2D):c.3650G>A (p.Ser1217Asn)
NM_003482.4(KMT2D):c.3695C>T (p.Pro1232Leu)
NM_003482.4(KMT2D):c.3699G>T (p.Glu1233Asp) rs759510649
NM_003482.4(KMT2D):c.3700G>T (p.Gly1234Trp)
NM_003482.4(KMT2D):c.3718A>G (p.Met1240Val)
NM_003482.4(KMT2D):c.3728G>A (p.Gly1243Glu)
NM_003482.4(KMT2D):c.3738G>A (p.Thr1246=)
NM_003482.4(KMT2D):c.381C>T (p.Ala127=)
NM_003482.4(KMT2D):c.3822T>G (p.Asp1274Glu)
NM_003482.4(KMT2D):c.3837C>T (p.Ile1279=)
NM_003482.4(KMT2D):c.3841G>A (p.Gly1281Arg)
NM_003482.4(KMT2D):c.3856G>C (p.Gly1286Arg)
NM_003482.4(KMT2D):c.3868C>T (p.Arg1290Trp) rs769946520
NM_003482.4(KMT2D):c.3869G>A (p.Arg1290Gln)
NM_003482.4(KMT2D):c.3875G>A (p.Arg1292His)
NM_003482.4(KMT2D):c.3888C>T (p.Ala1296=)
NM_003482.4(KMT2D):c.3935G>A (p.Arg1312His)
NM_003482.4(KMT2D):c.3938G>A (p.Arg1313Gln)
NM_003482.4(KMT2D):c.3951A>G (p.Gly1317=)
NM_003482.4(KMT2D):c.3994A>G (p.Thr1332Ala)
NM_003482.4(KMT2D):c.401-11del rs745388553
NM_003482.4(KMT2D):c.4011G>A (p.Glu1337=)
NM_003482.4(KMT2D):c.4021-15CT[2] rs55776244
NM_003482.4(KMT2D):c.4031T>C (p.Ile1344Thr)
NM_003482.4(KMT2D):c.4083G>T (p.Gln1361His) rs764941
NM_003482.4(KMT2D):c.4108A>G (p.Thr1370Ala)
NM_003482.4(KMT2D):c.4163G>A (p.Arg1388Gln) rs202217665
NM_003482.4(KMT2D):c.4163G>T (p.Arg1388Leu) rs202217665
NM_003482.4(KMT2D):c.417C>T (p.His139=)
NM_003482.4(KMT2D):c.4312G>A (p.Asp1438Asn)
NM_003482.4(KMT2D):c.4402G>T (p.Gly1468Cys)
NM_003482.4(KMT2D):c.444C>T (p.Gly148=)
NM_003482.4(KMT2D):c.4510C>T (p.Leu1504=)
NM_003482.4(KMT2D):c.4566G>A (p.Gln1522=)
NM_003482.4(KMT2D):c.4640C>T (p.Ala1547Val)
NM_003482.4(KMT2D):c.4656C>T (p.Asp1552=)
NM_003482.4(KMT2D):c.4662C>T (p.Val1554=)
NM_003482.4(KMT2D):c.4664C>T (p.Ser1555Phe)
NM_003482.4(KMT2D):c.4678G>A (p.Val1560Met)
NM_003482.4(KMT2D):c.46G>T (p.Ala16Ser)
NM_003482.4(KMT2D):c.4724T>C (p.Met1575Thr) rs1555194803
NM_003482.4(KMT2D):c.4731G>A (p.Val1577=)
NM_003482.4(KMT2D):c.4802G>A (p.Arg1601His)
NM_003482.4(KMT2D):c.486G>A (p.Lys162=)
NM_003482.4(KMT2D):c.4895C>T (p.Ser1632Leu)
NM_003482.4(KMT2D):c.4903C>G (p.Leu1635Val)
NM_003482.4(KMT2D):c.4956G>A (p.Lys1652=)
NM_003482.4(KMT2D):c.5026C>G (p.Pro1676Ala)
NM_003482.4(KMT2D):c.5043C>T (p.Thr1681=)
NM_003482.4(KMT2D):c.5121C>A (p.His1707Gln)
NM_003482.4(KMT2D):c.5135A>G (p.Lys1712Arg)
NM_003482.4(KMT2D):c.5139G>A (p.Gly1713=)
NM_003482.4(KMT2D):c.5143G>A (p.Ala1715Thr) rs1326579670
NM_003482.4(KMT2D):c.5151G>A (p.Gln1717=)
NM_003482.4(KMT2D):c.5154G>A (p.Ala1718=)
NM_003482.4(KMT2D):c.5182G>A (p.Asp1728Asn)
NM_003482.4(KMT2D):c.5184C>T (p.Asp1728=)
NM_003482.4(KMT2D):c.5219C>T (p.Ala1740Val)
NM_003482.4(KMT2D):c.5223G>A (p.Val1741=)
NM_003482.4(KMT2D):c.525C>T (p.Cys175=)
NM_003482.4(KMT2D):c.5362G>A (p.Ala1788Thr)
NM_003482.4(KMT2D):c.5374G>A (p.Val1792Ile)
NM_003482.4(KMT2D):c.5380G>A (p.Val1794Met)
NM_003482.4(KMT2D):c.5387G>A (p.Arg1796Gln)
NM_003482.4(KMT2D):c.5440A>G (p.Arg1814Gly)
NM_003482.4(KMT2D):c.5451C>T (p.Leu1817=)
NM_003482.4(KMT2D):c.5457A>G (p.Thr1819=)
NM_003482.4(KMT2D):c.5462A>G (p.Gln1821Arg)
NM_003482.4(KMT2D):c.5468-15dup rs1178225401
NM_003482.4(KMT2D):c.546C>T (p.Ile182=)
NM_003482.4(KMT2D):c.5481A>G (p.Pro1827=)
NM_003482.4(KMT2D):c.5485A>G (p.Ile1829Val)
NM_003482.4(KMT2D):c.5496A>T (p.Glu1832Asp)
NM_003482.4(KMT2D):c.5504G>A (p.Arg1835His)
NM_003482.4(KMT2D):c.5508C>T (p.Gly1836=)
NM_003482.4(KMT2D):c.5511C>T (p.Leu1837=)
NM_003482.4(KMT2D):c.5512G>C (p.Glu1838Gln)
NM_003482.4(KMT2D):c.5527A>G (p.Thr1843Ala)
NM_003482.4(KMT2D):c.554G>A (p.Arg185His)
NM_003482.4(KMT2D):c.5611C>T (p.Leu1871Phe)
NM_003482.4(KMT2D):c.5645-5del
NM_003482.4(KMT2D):c.5658G>A (p.Met1886Ile) rs754823190
NM_003482.4(KMT2D):c.5708G>A (p.Arg1903Gln)
NM_003482.4(KMT2D):c.5722G>A (p.Gly1908Ser)
NM_003482.4(KMT2D):c.5732C>T (p.Thr1911Ile)
NM_003482.4(KMT2D):c.5753G>A (p.Arg1918His) rs587778461
NM_003482.4(KMT2D):c.5757G>A (p.Thr1919=)
NM_003482.4(KMT2D):c.5798G>T (p.Gly1933Val)
NM_003482.4(KMT2D):c.57A>C (p.Gly19=)
NM_003482.4(KMT2D):c.5873G>A (p.Arg1958His)
NM_003482.4(KMT2D):c.5877G>A (p.Gly1959=)
NM_003482.4(KMT2D):c.5907C>T (p.Pro1969=)
NM_003482.4(KMT2D):c.591C>T (p.Cys197=)
NM_003482.4(KMT2D):c.5922G>A (p.Thr1974=)
NM_003482.4(KMT2D):c.5939C>T (p.Thr1980Met)
NM_003482.4(KMT2D):c.5967G>A (p.Thr1989=) rs199555915
NM_003482.4(KMT2D):c.5982C>T (p.Asp1994=) rs767771980
NM_003482.4(KMT2D):c.59C>T (p.Pro20Leu)
NM_003482.4(KMT2D):c.6066C>T (p.Leu2022=)
NM_003482.4(KMT2D):c.6116C>T (p.Ser2039Leu)
NM_003482.4(KMT2D):c.6165T>C (p.Ala2055=)
NM_003482.4(KMT2D):c.6263C>T (p.Thr2088Ile)
NM_003482.4(KMT2D):c.6274G>A (p.Asp2092Asn)
NM_003482.4(KMT2D):c.6320C>A (p.Pro2107His)
NM_003482.4(KMT2D):c.6362C>T (p.Ala2121Val)
NM_003482.4(KMT2D):c.6386C>T (p.Pro2129Leu)
NM_003482.4(KMT2D):c.6425T>C (p.Phe2142Ser)
NM_003482.4(KMT2D):c.6466C>G (p.Pro2156Ala)
NM_003482.4(KMT2D):c.6470G>T (p.Gly2157Val)
NM_003482.4(KMT2D):c.6483C>T (p.Leu2161=)
NM_003482.4(KMT2D):c.6494C>T (p.Pro2165Leu)
NM_003482.4(KMT2D):c.6508C>A (p.Gln2170Lys)
NM_003482.4(KMT2D):c.6521A>G (p.Gln2174Arg)
NM_003482.4(KMT2D):c.6525C>T (p.Asp2175=)
NM_003482.4(KMT2D):c.6542C>T (p.Pro2181Leu)
NM_003482.4(KMT2D):c.6547T>A (p.Tyr2183Asn)
NM_003482.4(KMT2D):c.6563G>A (p.Arg2188His) rs541122919
NM_003482.4(KMT2D):c.6563G>T (p.Arg2188Leu)
NM_003482.4(KMT2D):c.6565T>C (p.Phe2189Leu)
NM_003482.4(KMT2D):c.6578C>T (p.Pro2193Leu)
NM_003482.4(KMT2D):c.6590C>T (p.Pro2197Leu)
NM_003482.4(KMT2D):c.6606T>C (p.Pro2202=)
NM_003482.4(KMT2D):c.6614C>A (p.Ala2205Asp)
NM_003482.4(KMT2D):c.6634C>G (p.Leu2212Val)
NM_003482.4(KMT2D):c.6669A>G (p.Pro2223=)
NM_003482.4(KMT2D):c.6682A>G (p.Thr2228Ala)
NM_003482.4(KMT2D):c.6696C>T (p.Gly2232=)
NM_003482.4(KMT2D):c.6698C>A (p.Thr2233Asn)
NM_003482.4(KMT2D):c.6702C>T (p.Pro2234=)
NM_003482.4(KMT2D):c.674-6del rs976475854
NM_003482.4(KMT2D):c.6791G>C (p.Gly2264Ala) rs568006089
NM_003482.4(KMT2D):c.67T>G (p.Ser23Ala)
NM_003482.4(KMT2D):c.6808G>A (p.Glu2270Lys)
NM_003482.4(KMT2D):c.681T>C (p.Ala227=)
NM_003482.4(KMT2D):c.6826C>T (p.Pro2276Ser)
NM_003482.4(KMT2D):c.6828A>G (p.Pro2276=)
NM_003482.4(KMT2D):c.682C>T (p.Arg228Cys)
NM_003482.4(KMT2D):c.6838G>A (p.Glu2280Lys)
NM_003482.4(KMT2D):c.6845G>A (p.Arg2282Gln)
NM_003482.4(KMT2D):c.6853C>G (p.Leu2285Val)
NM_003482.4(KMT2D):c.6882A>C (p.Ala2294=)
NM_003482.4(KMT2D):c.6893G>T (p.Ser2298Ile)
NM_003482.4(KMT2D):c.6904C>T (p.Pro2302Ser)
NM_003482.4(KMT2D):c.692T>C (p.Val231Ala)
NM_003482.4(KMT2D):c.6940A>G (p.Thr2314Ala)
NM_003482.4(KMT2D):c.6953G>A (p.Gly2318Asp)
NM_003482.4(KMT2D):c.6967A>G (p.Thr2323Ala)
NM_003482.4(KMT2D):c.6988C>T (p.Pro2330Ser)
NM_003482.4(KMT2D):c.6C>G (p.Asp2Glu)
NM_003482.4(KMT2D):c.7028C>A (p.Pro2343Gln)
NM_003482.4(KMT2D):c.7028C>T (p.Pro2343Leu)
NM_003482.4(KMT2D):c.7030G>A (p.Gly2344Ser)
NM_003482.4(KMT2D):c.703C>A (p.Pro235Thr)
NM_003482.4(KMT2D):c.7054C>A (p.Pro2352Thr)
NM_003482.4(KMT2D):c.7110C>G (p.Arg2370=)
NM_003482.4(KMT2D):c.7131A>G (p.Pro2377=)
NM_003482.4(KMT2D):c.7146A>G (p.Pro2382=)
NM_003482.4(KMT2D):c.7160C>T (p.Pro2387Leu)
NM_003482.4(KMT2D):c.7164A>G (p.Gln2388=)
NM_003482.4(KMT2D):c.7174C>T (p.Pro2392Ser)
NM_003482.4(KMT2D):c.7198C>T (p.Pro2400Ser)
NM_003482.4(KMT2D):c.7260C>T (p.Ser2420=)
NM_003482.4(KMT2D):c.7283G>A (p.Arg2428Gln)
NM_003482.4(KMT2D):c.7287T>A (p.Pro2429=)
NM_003482.4(KMT2D):c.7317C>T (p.Pro2439=)
NM_003482.4(KMT2D):c.7324C>T (p.Pro2442Ser)
NM_003482.4(KMT2D):c.7328G>A (p.Arg2443His)
NM_003482.4(KMT2D):c.7362C>G (p.Pro2454=)
NM_003482.4(KMT2D):c.7400A>C (p.His2467Pro)
NM_003482.4(KMT2D):c.7404G>A (p.Lys2468=)
NM_003482.4(KMT2D):c.7408C>A (p.Pro2470Thr)
NM_003482.4(KMT2D):c.7412G>A (p.Arg2471Gln)
NM_003482.4(KMT2D):c.7433C>T (p.Ala2478Val)
NM_003482.4(KMT2D):c.7436T>C (p.Phe2479Ser)
NM_003482.4(KMT2D):c.7446G>A (p.Gly2482=)
NM_003482.4(KMT2D):c.7464G>A (p.Ser2488=)
NM_003482.4(KMT2D):c.7467G>A (p.Leu2489=)
NM_003482.4(KMT2D):c.7471G>C (p.Ala2491Pro)
NM_003482.4(KMT2D):c.7497C>T (p.Pro2499=) rs201218526
NM_003482.4(KMT2D):c.7502G>A (p.Gly2501Glu)
NM_003482.4(KMT2D):c.7515G>A (p.Glu2505=)
NM_003482.4(KMT2D):c.7516C>T (p.Leu2506Phe)
NM_003482.4(KMT2D):c.7550A>G (p.Asn2517Ser)
NM_003482.4(KMT2D):c.7555G>T (p.Val2519Phe)
NM_003482.4(KMT2D):c.7603C>T (p.Arg2535Cys)
NM_003482.4(KMT2D):c.7610C>T (p.Thr2537Ile)
NM_003482.4(KMT2D):c.7617T>C (p.Pro2539=)
NM_003482.4(KMT2D):c.7628G>T (p.Gly2543Val)
NM_003482.4(KMT2D):c.7645C>T (p.Pro2549Ser)
NM_003482.4(KMT2D):c.7648C>A (p.Pro2550Thr)
NM_003482.4(KMT2D):c.7704C>T (p.Pro2568=)
NM_003482.4(KMT2D):c.7730G>A (p.Ser2577Asn)
NM_003482.4(KMT2D):c.7769C>T (p.Ser2590Leu)
NM_003482.4(KMT2D):c.7770G>A (p.Ser2590=)
NM_003482.4(KMT2D):c.7799C>A (p.Ser2600Tyr)
NM_003482.4(KMT2D):c.7806G>T (p.Gly2602=)
NM_003482.4(KMT2D):c.7818G>T (p.Gly2606=)
NM_003482.4(KMT2D):c.7832G>A (p.Arg2611His)
NM_003482.4(KMT2D):c.7838C>T (p.Pro2613Leu)
NM_003482.4(KMT2D):c.7864G>A (p.Asp2622Asn)
NM_003482.4(KMT2D):c.7872C>T (p.Ser2624=)
NM_003482.4(KMT2D):c.787C>T (p.Arg263Cys)
NM_003482.4(KMT2D):c.788G>A (p.Arg263His)
NM_003482.4(KMT2D):c.7898C>T (p.Ser2633Leu)
NM_003482.4(KMT2D):c.7954A>G (p.Met2652Val)
NM_003482.4(KMT2D):c.7964C>G (p.Ser2655Cys)
NM_003482.4(KMT2D):c.7992C>A (p.Thr2664=)
NM_003482.4(KMT2D):c.79A>G (p.Ser27Gly) rs1938323081
NM_003482.4(KMT2D):c.8041C>T (p.Arg2681Trp)
NM_003482.4(KMT2D):c.8047-7del
NM_003482.4(KMT2D):c.8047-7dup rs200754433
NM_003482.4(KMT2D):c.8058A>G (p.Leu2686=)
NM_003482.4(KMT2D):c.8074C>A (p.Arg2692=)
NM_003482.4(KMT2D):c.8090G>A (p.Arg2697His) rs774178055
NM_003482.4(KMT2D):c.80G>A (p.Ser27Asn)
NM_003482.4(KMT2D):c.8148_8149delinsCT (p.Pro2717Ser) rs398123761
NM_003482.4(KMT2D):c.8235G>C (p.Lys2745Asn)
NM_003482.4(KMT2D):c.8287C>G (p.Pro2763Ala)
NM_003482.4(KMT2D):c.8316C>T (p.Leu2772=)
NM_003482.4(KMT2D):c.8320C>T (p.Arg2774Trp)
NM_003482.4(KMT2D):c.8321G>A (p.Arg2774Gln)
NM_003482.4(KMT2D):c.8321G>C (p.Arg2774Pro)
NM_003482.4(KMT2D):c.8329C>G (p.Pro2777Ala)
NM_003482.4(KMT2D):c.8334A>G (p.Pro2778=)
NM_003482.4(KMT2D):c.8350A>G (p.Met2784Val)
NM_003482.4(KMT2D):c.8379A>T (p.Gly2793=)
NM_003482.4(KMT2D):c.8396A>G (p.Tyr2799Cys)
NM_003482.4(KMT2D):c.8402G>A (p.Arg2801Gln)
NM_003482.4(KMT2D):c.8406A>T (p.Ala2802=)
NM_003482.4(KMT2D):c.8411A>T (p.Tyr2804Phe)
NM_003482.4(KMT2D):c.8420C>T (p.Ser2807Phe)
NM_003482.4(KMT2D):c.845C>G (p.Pro282Arg)
NM_003482.4(KMT2D):c.8479A>G (p.Thr2827Ala)
NM_003482.4(KMT2D):c.8498T>C (p.Met2833Thr)
NM_003482.4(KMT2D):c.8510T>C (p.Phe2837Ser)
NM_003482.4(KMT2D):c.8521C>A (p.Pro2841Thr) rs763347763
NM_003482.4(KMT2D):c.8533C>T (p.Leu2845Phe)
NM_003482.4(KMT2D):c.8555C>A (p.Ser2852Tyr)
NM_003482.4(KMT2D):c.8557C>T (p.Pro2853Ser)
NM_003482.4(KMT2D):c.8627A>C (p.Gln2876Pro)
NM_003482.4(KMT2D):c.8641C>T (p.Arg2881Trp)
NM_003482.4(KMT2D):c.8642G>A (p.Arg2881Gln)
NM_003482.4(KMT2D):c.8669C>G (p.Pro2890Arg)
NM_003482.4(KMT2D):c.8675G>T (p.Gly2892Val)
NM_003482.4(KMT2D):c.8681C>T (p.Pro2894Leu)
NM_003482.4(KMT2D):c.8682G>A (p.Pro2894=)
NM_003482.4(KMT2D):c.8697C>T (p.Gly2899=)
NM_003482.4(KMT2D):c.8714G>A (p.Arg2905His)
NM_003482.4(KMT2D):c.8735A>T (p.Asp2912Val)
NM_003482.4(KMT2D):c.8760G>T (p.Gly2920=)
NM_003482.4(KMT2D):c.8765G>A (p.Arg2922Gln)
NM_003482.4(KMT2D):c.8775G>A (p.Ala2925=)
NM_003482.4(KMT2D):c.8802C>T (p.Pro2934=)
NM_003482.4(KMT2D):c.8818C>A (p.Pro2940Thr)
NM_003482.4(KMT2D):c.8831A>G (p.Asn2944Ser)
NM_003482.4(KMT2D):c.8843C>T (p.Pro2948Leu)
NM_003482.4(KMT2D):c.8866A>G (p.Thr2956Ala)
NM_003482.4(KMT2D):c.8894A>G (p.Asn2965Ser)
NM_003482.4(KMT2D):c.8896C>T (p.Arg2966Trp)
NM_003482.4(KMT2D):c.8901C>T (p.Pro2967=)
NM_003482.4(KMT2D):c.8903C>T (p.Pro2968Leu)
NM_003482.4(KMT2D):c.8906C>T (p.Ser2969Leu)
NM_003482.4(KMT2D):c.8923C>T (p.Arg2975Cys)
NM_003482.4(KMT2D):c.8929A>G (p.Asn2977Asp)
NM_003482.4(KMT2D):c.8933C>T (p.Pro2978Leu)
NM_003482.4(KMT2D):c.8939C>T (p.Ala2980Val)
NM_003482.4(KMT2D):c.8988T>C (p.Asp2996=)
NM_003482.4(KMT2D):c.9029C>T (p.Ala3010Val)
NM_003482.4(KMT2D):c.9111C>T (p.His3037=)
NM_003482.4(KMT2D):c.9153A>C (p.Ala3051=)
NM_003482.4(KMT2D):c.9174C>T (p.Asp3058=)
NM_003482.4(KMT2D):c.9200A>G (p.Asn3067Ser)
NM_003482.4(KMT2D):c.9258G>A (p.Leu3086=)
NM_003482.4(KMT2D):c.9259C>G (p.Arg3087Gly)
NM_003482.4(KMT2D):c.9280T>C (p.Leu3094=)
NM_003482.4(KMT2D):c.9285C>G (p.Gly3095=)
NM_003482.4(KMT2D):c.9303C>A (p.Pro3101=)
NM_003482.4(KMT2D):c.9305C>T (p.Pro3102Leu)
NM_003482.4(KMT2D):c.9308C>T (p.Ala3103Val)
NM_003482.4(KMT2D):c.9312T>A (p.Ala3104=)
NM_003482.4(KMT2D):c.9324A>G (p.Glu3108=)
NM_003482.4(KMT2D):c.9326C>A (p.Pro3109His)
NM_003482.4(KMT2D):c.9329G>A (p.Arg3110His)
NM_003482.4(KMT2D):c.9336A>G (p.Ala3112=)
NM_003482.4(KMT2D):c.9340G>C (p.Val3114Leu)
NM_003482.4(KMT2D):c.9346C>T (p.Pro3116Ser)
NM_003482.4(KMT2D):c.9380G>A (p.Arg3127His)
NM_003482.4(KMT2D):c.9412A>T (p.Thr3138Ser)
NM_003482.4(KMT2D):c.9415C>T (p.Pro3139Ser)
NM_003482.4(KMT2D):c.9452G>T (p.Gly3151Val)
NM_003482.4(KMT2D):c.9490C>T (p.Arg3164Trp)
NM_003482.4(KMT2D):c.9500G>T (p.Arg3167Leu) rs377384903
NM_003482.4(KMT2D):c.9514C>T (p.Pro3172Ser)
NM_003482.4(KMT2D):c.9520T>C (p.Ser3174Pro)
NM_003482.4(KMT2D):c.9524G>A (p.Ser3175Asn)
NM_003482.4(KMT2D):c.9557G>A (p.Gly3186Glu)
NM_003482.4(KMT2D):c.9566G>T (p.Gly3189Val)
NM_003482.4(KMT2D):c.9596G>A (p.Ser3199Asn) rs1232234078
NM_003482.4(KMT2D):c.9621C>T (p.Ser3207=)
NM_003482.4(KMT2D):c.9625C>G (p.Leu3209Val)
NM_003482.4(KMT2D):c.9646G>A (p.Glu3216Lys)
NM_003482.4(KMT2D):c.964G>C (p.Val322Leu)
NM_003482.4(KMT2D):c.9678T>G (p.Pro3226=)
NM_003482.4(KMT2D):c.9787A>C (p.Lys3263Gln)
NM_003482.4(KMT2D):c.9807G>A (p.Gln3269=)
NM_003482.4(KMT2D):c.9807G>T (p.Gln3269His)
NM_003482.4(KMT2D):c.9852C>T (p.Ser3284=)
NM_003482.4(KMT2D):c.9902G>A (p.Gly3301Asp)
NM_003482.4(KMT2D):c.9910C>G (p.Pro3304Ala)
NM_003482.4(KMT2D):c.9927C>A (p.Ser3309=)
NM_003482.4(KMT2D):c.9930A>G (p.Gln3310=)
NM_003482.4(KMT2D):c.9932A>G (p.Gln3311Arg)
NM_003482.4(KMT2D):c.9962G>A (p.Arg3321Gln)
NM_003482.4(KMT2D):c.9995C>G (p.Thr3332Ser)
NM_003611.3(OFD1):c.1129+15dup
NM_003611.3(OFD1):c.1412-11del rs36052228
NM_003611.3(OFD1):c.2052C>G (p.Ser684=) rs61742891
NM_003611.3(OFD1):c.2052C>T (p.Ser684=) rs61742891
NM_003611.3(OFD1):c.2179G>A (p.Gly727Arg)
NM_003611.3(OFD1):c.2488+14_2488+19del rs781190242
NM_003611.3(OFD1):c.2996+16AC[2] rs761270089
NM_003611.3(OFD1):c.3027C>G (p.Asp1009Glu) rs758646234
NM_003611.3(OFD1):c.3027C>T (p.Asp1009=) rs758646234
NM_003611.3(OFD1):c.396T>A (p.Asp132Glu)
NM_003611.3(OFD1):c.517+13_517+14delinsGC rs2146959704
NM_003611.3(OFD1):c.675C>G (p.Thr225=) rs781665189
NM_003620.4(PPM1D):c.1262C>A (p.Ser421Ter)
NM_003630.3(PEX3):c.-197T>C rs184934783
NM_003630.3(PEX3):c.206-14del rs397705490
NM_003640.5(ELP1):c.2825G>A (p.Arg942Gln) rs149845612
NM_003640.5(ELP1):c.3069G>C (p.Leu1023=) rs1063110
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del) rs397516862
NM_003722.5(TP63):c.*2544del rs201395656
NM_003722.5(TP63):c.*471A>T rs144018872
NM_003738.5(PTCH2):c.1216-5dup rs1557645739
NM_003738.5(PTCH2):c.1465-16dup
NM_003738.5(PTCH2):c.1506C>G (p.Val502=) rs11573582
NM_003738.5(PTCH2):c.1506C>T (p.Val502=) rs11573582
NM_003738.5(PTCH2):c.1709+11C>T
NM_003738.5(PTCH2):c.1864C>A (p.His622Asn) rs11573586
NM_003738.5(PTCH2):c.1864C>T (p.His622Tyr) rs11573586
NM_003738.5(PTCH2):c.2427G>C (p.Ser809=) rs111471526
NM_003738.5(PTCH2):c.266-16_266-15del rs756782903
NM_003738.5(PTCH2):c.2695+15dup
NM_003738.5(PTCH2):c.3258-16del
NM_003738.5(PTCH2):c.732C>T (p.Gly244=)
NM_003849.4(SUCLG1):c.531+15del rs769785912
NM_003849.4(SUCLG1):c.531+9dup rs769785912
NM_003849.4(SUCLG1):c.98-13_98-11del rs56733272
NM_003849.4(SUCLG1):c.98-14_98-11del rs56733272
NM_003850.3(SUCLA2):c.*661C>A rs10397
NM_003850.3(SUCLA2):c.*661C>G rs10397
NM_003850.3(SUCLA2):c.595T>A (p.Ser199Thr) rs7320366
NM_003922.4(HERC1):c.11166G>C (p.Glu3722Asp) rs2229749
NM_003923.3(FOXH1):c.771C>A (p.Gly257=) rs115750264
NM_003923.3(FOXH1):c.771C>T (p.Gly257=) rs115750264
NM_003923.3(FOXH1):c.912G>A (p.Pro304=) rs141411287
NM_003923.3(FOXH1):c.984C>G (p.Asp328Glu) rs117754060
NM_003924.4(PHOX2B):c.*1156C>A rs560413438
NM_003924.4(PHOX2B):c.*194C>T rs186778106
NM_003924.4(PHOX2B):c.*838A>G rs367652707
NM_003924.4(PHOX2B):c.486C>T (p.Ala162=) rs547677836
NM_003924.4(PHOX2B):c.738_776del (p.Ala248_Ala260del) rs757020181
NM_003924.4(PHOX2B):c.741_755del (p.Ala256_Ala260del) rs775006915
NM_003924.4(PHOX2B):c.741_761del (p.Ala254_Ala260del) rs749694204
NM_003924.4(PHOX2B):c.756_776del (p.Ala254_Ala260del) rs17879189
NM_003924.4(PHOX2B):c.765_779del (p.Ala256_Ala260del) rs761018157
NM_003995.4(NPR2):c.2712+11_2712+19del rs58759471
NM_003995.4(NPR2):c.2901T>G (p.Ala967=)
NM_003995.4(NPR2):c.915G>A (p.Glu305=) rs773637376
NM_004004.6(GJB2):c.*1067G>T rs9237
NM_004044.7(ATIC):c.1098+60C>G rs13002576
NM_004044.7(ATIC):c.380-19A>C rs2177737
NM_004064.5(CDKN1B):c.*610T>A rs4251698
NM_004064.5(CDKN1B):c.*96C>G rs556751200
NM_004064.5(CDKN1B):c.-254C>G rs561344485
NM_004064.5(CDKN1B):c.-7G>A rs751341214
NM_004064.5(CDKN1B):c.277C>T (p.Arg93Trp) rs140167393
NM_004064.5(CDKN1B):c.397C>A (p.Pro133Thr) rs137985549
NM_004064.5(CDKN1B):c.426G>C (p.Thr142=) rs149775942
NM_004134.7(HSPA9):c.717-17del rs71574426
NM_004168.4(SDHA):c.-28_-20dup
NM_004168.4(SDHA):c.1260+23dup
NM_004168.4(SDHA):c.1432+20G>C rs200127852
NM_004168.4(SDHA):c.1433-3del rs2126602411
NM_004168.4(SDHA):c.1433-8del
NM_004168.4(SDHA):c.1433-8dup rs769594966
NM_004168.4(SDHA):c.150+17del
NM_004168.4(SDHA):c.150+17dup rs1734837730
NM_004168.4(SDHA):c.1664-11del rs1561010692
NM_004168.4(SDHA):c.1664-11dup
NM_004168.4(SDHA):c.1974G>C (p.Pro658=) rs1042446
NM_004168.4(SDHA):c.457-12del rs2126549133
NM_004168.4(SDHA):c.771-11A>G rs2288461
NM_004168.4(SDHA):c.896-5del rs751123858
NM_004204.5(PIGQ):c.1224-63C>T rs59476302
NM_004204.5(PIGQ):c.1461C>G (p.Leu487=) rs1045274
NM_004204.5(PIGQ):c.942+92A>C rs2071980
NM_004208.4(AIFM1):c.1573+18C>G
NM_004208.4(AIFM1):c.250-4G>A rs759767218
NM_004208.4(AIFM1):c.384G>A (p.Ala128=)
NM_004208.4(AIFM1):c.597A>G (p.Lys199=) rs143670174
NM_004208.4(AIFM1):c.649C>T (p.Leu217=)
NM_004208.4(AIFM1):c.782-11C>T
NM_004239.4(TRIP11):c.*387C>A rs375437590
NM_004239.4(TRIP11):c.1384G>T (p.Asp462Tyr)
NM_004239.4(TRIP11):c.202-5del
NM_004239.4(TRIP11):c.2355G>A (p.Met785Ile) rs373362974
NM_004239.4(TRIP11):c.4892+10del rs794727098
NM_004239.4(TRIP11):c.4893-9del
NM_004239.4(TRIP11):c.5260+12del
NM_004239.4(TRIP11):c.5260+12dup
NM_004239.4(TRIP11):c.588+11del rs750898619
NM_004239.4(TRIP11):c.588+17dup
NM_004260.4(RECQL4):c.1028C>T (p.Pro343Leu) rs549381989
NM_004260.4(RECQL4):c.1131+9G>A rs373765596
NM_004260.4(RECQL4):c.1132-3del
NM_004260.4(RECQL4):c.1132-8dup rs747674070
NM_004260.4(RECQL4):c.1237_1238delinsAG (p.Ala413Arg) rs587778652
NM_004260.4(RECQL4):c.1484-7del rs772909792
NM_004260.4(RECQL4):c.2059-8_2059-6del rs558061753
NM_004260.4(RECQL4):c.2086C>A (p.Arg696Ser) rs531970883
NM_004260.4(RECQL4):c.212A>G (p.Glu71Gly) rs34642881
NM_004260.4(RECQL4):c.213+6del rs535285068
NM_004260.4(RECQL4):c.2296del (p.Arg766fs) rs1827625671
NM_004260.4(RECQL4):c.2557TGCACC[2] (p.853CT[2]) rs548804317
NM_004260.4(RECQL4):c.2557TGCACC[4] (p.853CT[4]) rs548804317
NM_004260.4(RECQL4):c.2601C>G (p.Ala867=) rs34358597
NM_004260.4(RECQL4):c.274_275delinsCT (p.Ser92Leu) rs587778649
NM_004260.4(RECQL4):c.2756-3dup
NM_004260.4(RECQL4):c.3055+19del rs1564790269
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647
NM_004260.4(RECQL4):c.3393+8_3393+9inv
NM_004260.4(RECQL4):c.3503-20GT[3] rs755908070
NM_004260.4(RECQL4):c.3563T>C (p.Leu1188Pro) rs535259922
NM_004260.4(RECQL4):c.465C>G (p.Val155=) rs116137512
NM_004273.5(CHST3):c.*2349A>G rs4148948
NM_004273.5(CHST3):c.*4421G>C rs730722
NM_004273.5(CHST3):c.1380C>A (p.Ala460=) rs369055984
NM_004273.5(CHST3):c.465G>C (p.Gln155His)
NM_004304.5(ALK):c.-539G>A rs200662898
NM_004304.5(ALK):c.1155-20_1155-19del rs140451928
NM_004304.5(ALK):c.1720G>C (p.Gly574Arg) rs762358335
NM_004304.5(ALK):c.1912+19del
NM_004304.5(ALK):c.2356-11dup
NM_004304.5(ALK):c.2356-16C>T rs551864909
NM_004304.5(ALK):c.2577G>C (p.Glu859Asp) rs61754865
NM_004304.5(ALK):c.2772T>G (p.Gly924=) rs749286400
NM_004304.5(ALK):c.2775A>G (p.Gly925=) rs777406442
NM_004304.5(ALK):c.3451-13dup
NM_004304.5(ALK):c.3600G>A (p.Ala1200=) rs56247462
NM_004304.5(ALK):c.3600G>C (p.Ala1200=) rs56247462
NM_004304.5(ALK):c.3837-8dup rs2148152286
NM_004304.5(ALK):c.4297GAG[2] (p.Glu1435del) rs138827116
NM_004304.5(ALK):c.702T>A (p.Pro234=) rs2246745
NM_004316.4(ASCL1):c.151CAG[13] (p.Gln62_Ala63insGln) rs3832799
NM_004333.6(BRAF):c.*111C>T rs539860876
NM_004333.6(BRAF):c.2128-16_2128-7del rs766844227
NM_004333.6(BRAF):c.2128-5dup rs373442098
NM_004333.6(BRAF):c.83GCGCCG[4] (p.28GA[4]) rs397507458
NM_004370.6(COL12A1):c.1101C>A (p.Ile367=)
NM_004370.6(COL12A1):c.1170T>C (p.Ser390=)
NM_004370.6(COL12A1):c.1296A>G (p.Ser432=)
NM_004370.6(COL12A1):c.1317C>T (p.Ala439=)
NM_004370.6(COL12A1):c.15T>C (p.Leu5=)
NM_004370.6(COL12A1):c.1884G>A (p.Lys628=)
NM_004370.6(COL12A1):c.1892-19_1892-18dup rs11347601
NM_004370.6(COL12A1):c.1892-19dup rs11347601
NM_004370.6(COL12A1):c.1892-6_1892-5insT rs752652515
NM_004370.6(COL12A1):c.1892-7del rs11347601
NM_004370.6(COL12A1):c.1897G>T (p.Val633Phe) rs200315815
NM_004370.6(COL12A1):c.1945A>C (p.Lys649Gln)
NM_004370.6(COL12A1):c.2438-8dup rs1032205753
NM_004370.6(COL12A1):c.243G>A (p.Leu81=)
NM_004370.6(COL12A1):c.2711-15dup
NM_004370.6(COL12A1):c.3066A>G (p.Lys1022=)
NM_004370.6(COL12A1):c.306A>G (p.Glu102=)
NM_004370.6(COL12A1):c.3180A>G (p.Thr1060=)
NM_004370.6(COL12A1):c.334+18del rs2149478980
NM_004370.6(COL12A1):c.335-8del rs2149478420
NM_004370.6(COL12A1):c.3774C>T (p.Asp1258=)
NM_004370.6(COL12A1):c.4248G>A (p.Lys1416=)
NM_004370.6(COL12A1):c.4263A>G (p.Pro1421=)
NM_004370.6(COL12A1):c.4347A>G (p.Glu1449=)
NM_004370.6(COL12A1):c.4422A>G (p.Pro1474=) rs558383133
NM_004370.6(COL12A1):c.4515G>A (p.Leu1505=)
NM_004370.6(COL12A1):c.4650C>T (p.His1550=)
NM_004370.6(COL12A1):c.5109T>C (p.Asn1703=)
NM_004370.6(COL12A1):c.5209C>G (p.Leu1737Val) rs769221057
NM_004370.6(COL12A1):c.5394+10dup
NM_004370.6(COL12A1):c.6624A>G (p.Thr2208=)
NM_004370.6(COL12A1):c.7299G>T (p.Thr2433=) rs35551395
NM_004370.6(COL12A1):c.7344C>T (p.Ile2448=)
NM_004370.6(COL12A1):c.7674T>C (p.Asn2558=)
NM_004370.6(COL12A1):c.7698-19_7698-15del rs141102808
NM_004370.6(COL12A1):c.8133T>C (p.Ser2711=)
NM_004370.6(COL12A1):c.8136A>C (p.Pro2712=)
NM_004370.6(COL12A1):c.824-10dup
NM_004370.6(COL12A1):c.8319+13del
NM_004370.6(COL12A1):c.8463C>T (p.Gly2821=)
NM_004370.6(COL12A1):c.8469+9G>T
NM_004370.6(COL12A1):c.8685+18dup rs763196298
NM_004370.6(COL12A1):c.8697T>G (p.Ala2899=)
NM_004370.6(COL12A1):c.8838A>T (p.Pro2946=)
NM_004370.6(COL12A1):c.9010+15A>G
NM_004370.6(COL12A1):c.9081C>T (p.Gly3027=)
NM_004370.6(COL12A1):c.9166G>A (p.Gly3056Arg)
NM_004370.6(COL12A1):c.9169C>T (p.Gln3057Ter)
NM_004370.6(COL12A1):c.987T>C (p.Ser329=)
NM_004370.6(COL12A1):c.9T>C (p.Ser3=)
NM_004380.3(CREBBP):c.1095T>C (p.His365=) rs565069106
NM_004380.3(CREBBP):c.1128G>A (p.Glu376=)
NM_004380.3(CREBBP):c.1389G>A (p.Gly463=)
NM_004380.3(CREBBP):c.140A>G (p.Asn47Ser)
NM_004380.3(CREBBP):c.1509G>T (p.Gln503His)
NM_004380.3(CREBBP):c.1565A>G (p.Asn522Ser)
NM_004380.3(CREBBP):c.1655C>A (p.Pro552Gln)
NM_004380.3(CREBBP):c.1656G>A (p.Pro552=)
NM_004380.3(CREBBP):c.1725C>T (p.Ser575=)
NM_004380.3(CREBBP):c.1735A>G (p.Thr579Ala)
NM_004380.3(CREBBP):c.1759G>A (p.Gly587Ser)
NM_004380.3(CREBBP):c.1779C>T (p.His593=)
NM_004380.3(CREBBP):c.181C>A (p.Pro61Thr)
NM_004380.3(CREBBP):c.1923C>T (p.Tyr641=)
NM_004380.3(CREBBP):c.1935C>T (p.Asn645=)
NM_004380.3(CREBBP):c.1941+18G>A
NM_004380.3(CREBBP):c.1942-17A>G
NM_004380.3(CREBBP):c.1986A>G (p.Gln662=)
NM_004380.3(CREBBP):c.2056C>T (p.Pro686Ser)
NM_004380.3(CREBBP):c.2062C>G (p.Pro688Ala)
NM_004380.3(CREBBP):c.2068G>T (p.Ala690Ser) rs531539047
NM_004380.3(CREBBP):c.216G>T (p.Glu72Asp)
NM_004380.3(CREBBP):c.2264G>A (p.Ser755Asn)
NM_004380.3(CREBBP):c.2266A>G (p.Met756Val)
NM_004380.3(CREBBP):c.2287G>T (p.Ala763Ser)
NM_004380.3(CREBBP):c.2307G>A (p.Met769Ile)
NM_004380.3(CREBBP):c.2312A>G (p.Gln771Arg) rs147805823
NM_004380.3(CREBBP):c.2361G>A (p.Ala787=)
NM_004380.3(CREBBP):c.2420G>C (p.Ser807Thr) rs750178517
NM_004380.3(CREBBP):c.2441C>G (p.Pro814Arg)
NM_004380.3(CREBBP):c.250C>A (p.Pro84Thr) rs770952413
NM_004380.3(CREBBP):c.2527C>G (p.Leu843Val)
NM_004380.3(CREBBP):c.2537C>G (p.Pro846Arg)
NM_004380.3(CREBBP):c.2577T>C (p.Pro859=)
NM_004380.3(CREBBP):c.2585C>T (p.Thr862Met)
NM_004380.3(CREBBP):c.2643G>C (p.Gln881His)
NM_004380.3(CREBBP):c.2644C>T (p.Pro882Ser)
NM_004380.3(CREBBP):c.2663C>T (p.Pro888Leu)
NM_004380.3(CREBBP):c.2702C>T (p.Pro901Leu)
NM_004380.3(CREBBP):c.270C>T (p.Ser90=)
NM_004380.3(CREBBP):c.2728A>G (p.Thr910Ala) rs143247685
NM_004380.3(CREBBP):c.2828A>G (p.Gln943Arg)
NM_004380.3(CREBBP):c.2853T>C (p.Pro951=)
NM_004380.3(CREBBP):c.288G>A (p.Gln96=)
NM_004380.3(CREBBP):c.2911A>G (p.Arg971Gly)
NM_004380.3(CREBBP):c.2942C>T (p.Ala981Val)
NM_004380.3(CREBBP):c.2951A>G (p.Asn984Ser)
NM_004380.3(CREBBP):c.2964A>G (p.Pro988=)
NM_004380.3(CREBBP):c.2977C>T (p.Pro993Ser) rs886042430
NM_004380.3(CREBBP):c.2980G>A (p.Val994Met)
NM_004380.3(CREBBP):c.2995A>G (p.Thr999Ala)
NM_004380.3(CREBBP):c.2996C>T (p.Thr999Met)
NM_004380.3(CREBBP):c.3008C>G (p.Ala1003Gly)
NM_004380.3(CREBBP):c.3025G>A (p.Asp1009Asn)
NM_004380.3(CREBBP):c.3200G>A (p.Ser1067Asn)
NM_004380.3(CREBBP):c.3205G>A (p.Gly1069Ser)
NM_004380.3(CREBBP):c.3205G>T (p.Gly1069Cys) rs555109138
NM_004380.3(CREBBP):c.3232T>C (p.Ser1078Pro)
NM_004380.3(CREBBP):c.3240G>A (p.Pro1080=)
NM_004380.3(CREBBP):c.3360C>T (p.Leu1120=)
NM_004380.3(CREBBP):c.3370-16dup rs75459669
NM_004380.3(CREBBP):c.3370-4del rs75459669
NM_004380.3(CREBBP):c.3370-5_3370-4del rs75459669
NM_004380.3(CREBBP):c.3459C>T (p.Tyr1153=)
NM_004380.3(CREBBP):c.3469G>C (p.Val1157Leu)
NM_004380.3(CREBBP):c.3498C>G (p.Leu1166=)
NM_004380.3(CREBBP):c.3507C>G (p.Arg1169=)
NM_004380.3(CREBBP):c.3594T>C (p.Tyr1198=)
NM_004380.3(CREBBP):c.3690T>C (p.Tyr1230=)
NM_004380.3(CREBBP):c.3738C>T (p.Gly1246=)
NM_004380.3(CREBBP):c.3759C>T (p.Asp1253=)
NM_004380.3(CREBBP):c.382T>C (p.Ser128Pro)
NM_004380.3(CREBBP):c.3924C>T (p.Cys1308=)
NM_004380.3(CREBBP):c.3930C>T (p.Asn1310=)
NM_004380.3(CREBBP):c.395G>A (p.Ser132Asn)
NM_004380.3(CREBBP):c.4103C>T (p.Thr1368Met)
NM_004380.3(CREBBP):c.4104G>A (p.Thr1368=)
NM_004380.3(CREBBP):c.411A>T (p.Ala137=)
NM_004380.3(CREBBP):c.412G>A (p.Ala138Thr)
NM_004380.3(CREBBP):c.417C>T (p.Ser139=)
NM_004380.3(CREBBP):c.444C>G (p.Ser148=)
NM_004380.3(CREBBP):c.45C>G (p.Ala15=)
NM_004380.3(CREBBP):c.4728+8C>T
NM_004380.3(CREBBP):c.4729-14G>A rs130008
NM_004380.3(CREBBP):c.4729-14G>C rs130008
NM_004380.3(CREBBP):c.4767C>T (p.Asn1589=)
NM_004380.3(CREBBP):c.4788C>T (p.Asn1596=)
NM_004380.3(CREBBP):c.4806C>T (p.Arg1602=)
NM_004380.3(CREBBP):c.4807G>A (p.Ala1603Thr)
NM_004380.3(CREBBP):c.4835A>G (p.Asn1612Ser)
NM_004380.3(CREBBP):c.486G>A (p.Ala162=)
NM_004380.3(CREBBP):c.4890+16G>A
NM_004380.3(CREBBP):c.4947C>T (p.Ile1649=)
NM_004380.3(CREBBP):c.5001C>T (p.Phe1667=)
NM_004380.3(CREBBP):c.5091C>T (p.Thr1697=)
NM_004380.3(CREBBP):c.5178C>T (p.Tyr1726=)
NM_004380.3(CREBBP):c.5181C>T (p.Asp1727=)
NM_004380.3(CREBBP):c.5199T>C (p.Tyr1733=)
NM_004380.3(CREBBP):c.5264G>A (p.Ser1755Asn)
NM_004380.3(CREBBP):c.5277A>G (p.Pro1759=)
NM_004380.3(CREBBP):c.5628C>T (p.Asn1876=)
NM_004380.3(CREBBP):c.5629G>A (p.Val1877Met)
NM_004380.3(CREBBP):c.5631G>A (p.Val1877=)
NM_004380.3(CREBBP):c.5739C>T (p.Pro1913=)
NM_004380.3(CREBBP):c.5793C>T (p.Thr1931=)
NM_004380.3(CREBBP):c.57G>T (p.Ser19=)
NM_004380.3(CREBBP):c.5828C>T (p.Pro1943Leu)
NM_004380.3(CREBBP):c.5831C>T (p.Ala1944Val)
NM_004380.3(CREBBP):c.5837C>A (p.Pro1946Gln) rs765600316
NM_004380.3(CREBBP):c.5839C>T (p.Pro1947Ser)
NM_004380.3(CREBBP):c.5845G>A (p.Ala1949Thr)
NM_004380.3(CREBBP):c.5878C>A (p.Arg1960=)
NM_004380.3(CREBBP):c.5949A>G (p.Pro1983=)
NM_004380.3(CREBBP):c.5972C>T (p.Pro1991Leu)
NM_004380.3(CREBBP):c.5992G>T (p.Val1998Leu)
NM_004380.3(CREBBP):c.6039G>A (p.Met2013Ile)
NM_004380.3(CREBBP):c.6072G>A (p.Ala2024=)
NM_004380.3(CREBBP):c.6087G>A (p.Gln2029=)
NM_004380.3(CREBBP):c.6137C>T (p.Ala2046Val)
NM_004380.3(CREBBP):c.6157A>G (p.Met2053Val)
NM_004380.3(CREBBP):c.6237C>A (p.Ser2079=)
NM_004380.3(CREBBP):c.6332A>G (p.Asn2111Ser)
NM_004380.3(CREBBP):c.6357T>G (p.Pro2119=)
NM_004380.3(CREBBP):c.6414C>G (p.Ser2138Arg)
NM_004380.3(CREBBP):c.6445G>A (p.Val2149Met) rs147448293
NM_004380.3(CREBBP):c.6445G>T (p.Val2149Leu)
NM_004380.3(CREBBP):c.6479C>T (p.Ala2160Val)
NM_004380.3(CREBBP):c.6624A>C (p.Gln2208His) rs142545779
NM_004380.3(CREBBP):c.6624A>G (p.Gln2208=) rs142545779
NM_004380.3(CREBBP):c.6693C>T (p.Phe2231=)
NM_004380.3(CREBBP):c.6712G>A (p.Gly2238Arg)
NM_004380.3(CREBBP):c.6725C>T (p.Pro2242Leu)
NM_004380.3(CREBBP):c.6726G>A (p.Pro2242=)
NM_004380.3(CREBBP):c.6732G>A (p.Met2244Ile)
NM_004380.3(CREBBP):c.6786C>T (p.Gly2262=)
NM_004380.3(CREBBP):c.6794C>T (p.Ala2265Val)
NM_004380.3(CREBBP):c.6829C>T (p.Pro2277Ser)
NM_004380.3(CREBBP):c.6831G>A (p.Pro2277=)
NM_004380.3(CREBBP):c.6930G>T (p.Gln2310His)
NM_004380.3(CREBBP):c.6932C>T (p.Pro2311Leu)
NM_004380.3(CREBBP):c.6933G>A (p.Pro2311=)
NM_004380.3(CREBBP):c.7126G>A (p.Val2376Ile)
NM_004380.3(CREBBP):c.712G>A (p.Val238Met) rs146887252
NM_004380.3(CREBBP):c.7198T>C (p.Leu2400=)
NM_004380.3(CREBBP):c.7207C>G (p.Pro2403Ala)
NM_004380.3(CREBBP):c.7255G>A (p.Ala2419Thr)
NM_004380.3(CREBBP):c.7256C>T (p.Ala2419Val)
NM_004380.3(CREBBP):c.7266C>T (p.Ser2422=)
NM_004380.3(CREBBP):c.7275C>G (p.Ser2425=)
NM_004380.3(CREBBP):c.7281C>T (p.Val2427=)
NM_004380.3(CREBBP):c.731C>T (p.Thr244Met)
NM_004380.3(CREBBP):c.7326G>A (p.Leu2442=)
NM_004380.3(CREBBP):c.753T>G (p.Thr251=) rs142403441
NM_004380.3(CREBBP):c.774C>T (p.Thr258=)
NM_004380.3(CREBBP):c.862A>G (p.Met288Val)
NM_004380.3(CREBBP):c.875G>T (p.Gly292Val)
NM_004380.3(CREBBP):c.962A>G (p.Asn321Ser)
NM_004380.3(CREBBP):c.976-3del
NM_004387.4(NKX2-5):c.335-5dup rs1316920712
NM_004387.4(NKX2-5):c.357G>C (p.Ala119=) rs769566306
NM_004393.6(DAG1):c.384G>T (p.Val128=) rs143829263
NM_004415.4(DSP):c.12C>G (p.Asn4Lys) rs368802003
NM_004453.4(ETFDH):c.405+19del
NM_004453.4(ETFDH):c.405+19dup
NM_004453.4(ETFDH):c.607-12del
NM_004453.4(ETFDH):c.607-3del
NM_004453.4(ETFDH):c.63T>C (p.Ile21=) rs566605780
NM_004453.4(ETFDH):c.684+12del
NM_004453.4(ETFDH):c.685-4del
NM_004453.4(ETFDH):c.832-3dup rs376153836
NM_004453.4(ETFDH):c.832-4_832-3del
NM_004456.5(EZH2):c.*21del rs3217095
NM_004456.5(EZH2):c.118-4del rs3214332
NM_004456.5(EZH2):c.118-4dup
NM_004456.5(EZH2):c.118-5_118-4del rs3214332
NM_004456.5(EZH2):c.1505+20C>G rs79268614
NM_004456.5(EZH2):c.1506-17del
NM_004456.5(EZH2):c.1890G>A (p.Gly630=)
NM_004456.5(EZH2):c.1948-3del
NM_004456.5(EZH2):c.2030-20_2030-19dup
NM_004456.5(EZH2):c.233G>A (p.Arg78His)
NM_004456.5(EZH2):c.247-15dup rs557474218
NM_004456.5(EZH2):c.364-14dup rs750852762
NM_004456.5(EZH2):c.364-9_364-8del
NM_004456.5(EZH2):c.559G>A (p.Asp187Asn) rs1322202663
NM_004456.5(EZH2):c.563A>C (p.Asp188Ala)
NM_004525.3(LRP2):c.*910dup rs11411235
NM_004525.3(LRP2):c.11498-13del rs143342962
NM_004525.3(LRP2):c.13519-40CT[12] rs138614485
NM_004525.3(LRP2):c.13519-40CT[13] rs138614485
NM_004525.3(LRP2):c.2934G>A (p.Thr978=) rs17848143
NM_004525.3(LRP2):c.3550+18T>G rs2075255
NM_004525.3(LRP2):c.3667+13T>A rs116697309
NM_004525.3(LRP2):c.402C>A (p.Pro134=) rs34104660
NM_004525.3(LRP2):c.428-11_428-8del rs370823033
NM_004525.3(LRP2):c.428-8del rs370823033
NM_004525.3(LRP2):c.428-9_428-8del rs370823033
NM_004525.3(LRP2):c.6267G>A (p.Pro2089=) rs2228169
NM_004525.3(LRP2):c.775G>C (p.Gly259Arg) rs34693334
NM_004525.3(LRP2):c.8699-8C>T rs145301652
NM_004531.5(MOCS2):c.*1544C>A rs16880873
NM_004544.4(NDUFA10):c.*1229C>G rs55998047
NM_004544.4(NDUFA10):c.*438C>T rs13396556
NM_004544.4(NDUFA10):c.1000-5del rs138479490
NM_004553.6(NDUFS6):c.187-53_187-50del rs36074605
NM_004560.4(ROR2):c.*106C>T rs531108921
NM_004560.4(ROR2):c.*170AG[1] rs140581955
NM_004560.4(ROR2):c.1720G>T (p.Val574Leu) rs140579674
NM_004560.4(ROR2):c.1995G>C (p.Met665Ile) rs763115397
NM_004560.4(ROR2):c.2805C>G (p.Asp935Glu) rs41277835
NM_004564.3(GATB):c.1198-6del rs11292952
NM_004565.3(PEX14):c.299-8G>T rs112851814
NM_004589.4(SCO1):c.*320= rs2040570
NM_004608.4(TBX6):c.840-32TCA[4] rs3833842
NM_004612.4(TGFBR1):c.52GCG[6] (p.Ala24_Ala26del) rs11466445
NM_004612.4(TGFBR1):c.575-9dup rs863223798
NM_004614.5(TK2):c.-30C>G rs3743715
NM_004618.5(TOP3A):c.1468-11G>T rs3817992
NM_004626.3(WNT11):c.198G>A (p.Met66Ile)
NM_004715.5(CTDP1):c.2418-207_2418-165dup rs147933855
NM_004782.4(SNAP29):c.*2261G>T rs165744
NM_004782.4(SNAP29):c.*2796G>A rs562935601
NM_004782.4(SNAP29):c.*755A>G rs116984278
NM_004782.4(SNAP29):c.-32C>G rs202138036
NM_004782.4(SNAP29):c.487A>G (p.Ser163Gly) rs116892729
NM_004813.4(PEX16):c.*376G>C rs143868125
NM_004813.4(PEX16):c.346= (p.Val116=)
NM_004813.4(PEX16):c.359+13del rs775047767
NM_004813.4(PEX16):c.888-3dup rs2134686844
NM_004813.4(PEX16):c.952+20_952+21del rs541010446
NM_004836.7(EIF2AK3):c.40CTG[7] (p.Leu21del) rs1805190
NM_004959.5(NR5A1):c.*1400T>C rs10283445
NM_004959.5(NR5A1):c.1285C>T (p.Leu429=)
NM_004959.5(NR5A1):c.33G>A (p.Glu11=)
NM_004959.5(NR5A1):c.393G>A (p.Pro131=)
NM_004959.5(NR5A1):c.871-20C>T rs2297605
NM_004959.5(NR5A1):c.924C>T (p.Phe308=)
NM_004959.5(NR5A1):c.990+20C>T
NM_004959.5(NR5A1):c.991-18C>T
NM_005006.7(NDUFS1):c.*457T>A rs4147728
NM_005006.7(NDUFS1):c.*53T>G rs116335919
NM_005006.7(NDUFS1):c.-47C>G rs4147707
NM_005006.7(NDUFS1):c.154-11_154-9del rs568965659
NM_005006.7(NDUFS1):c.154-126TAGA[8] rs3217140
NM_005006.7(NDUFS1):c.154-126TAGA[9] rs3217140
NM_005006.7(NDUFS1):c.154-33dup rs568965659
NM_005006.7(NDUFS1):c.966G>T (p.Ala322=) rs1127566
NM_005026.5(PIK3CD):c.1394C>T (p.Thr465Met) rs368722127
NM_005027.4(PIK3R2):c.1002C>G (p.Asp334Glu)
NM_005027.4(PIK3R2):c.1110-16C>T
NM_005027.4(PIK3R2):c.1329C>A (p.Gly443=) rs199931960
NM_005027.4(PIK3R2):c.1416+14C>T
NM_005027.4(PIK3R2):c.1522C>T (p.Arg508Cys)
NM_005027.4(PIK3R2):c.154C>A (p.Gln52Lys)
NM_005027.4(PIK3R2):c.1615C>T (p.Arg539Cys)
NM_005027.4(PIK3R2):c.1676G>A (p.Arg559His)
NM_005027.4(PIK3R2):c.1682A>G (p.Asn561Ser) rs769397940
NM_005027.4(PIK3R2):c.1766A>G (p.Lys589Arg)
NM_005027.4(PIK3R2):c.1809-7A>T rs201271257
NM_005027.4(PIK3R2):c.1809-8dup rs566994275
NM_005027.4(PIK3R2):c.1845G>A (p.Pro615=) rs201568661
NM_005027.4(PIK3R2):c.1875C>T (p.Gly625=) rs1258315228
NM_005027.4(PIK3R2):c.1979+20G>A
NM_005027.4(PIK3R2):c.200G>A (p.Arg67Gln)
NM_005027.4(PIK3R2):c.2146G>C (p.Val716Leu)
NM_005027.4(PIK3R2):c.46C>T (p.Arg16Cys) rs80233027
NM_005027.4(PIK3R2):c.500C>T (p.Thr167Met)
NM_005027.4(PIK3R2):c.598+11C>T
NM_005027.4(PIK3R2):c.598+12G>A
NM_005027.4(PIK3R2):c.694G>A (p.Val232Met)
NM_005027.4(PIK3R2):c.778C>T (p.Pro260Ser)
NM_005045.4(RELN):c.-24GGC[10] (p.Met1_Glu2insGlyGly) rs55656324
NM_005045.4(RELN):c.10266T>C (p.His3422=)
NM_005045.4(RELN):c.1143+15dup rs758452731
NM_005045.4(RELN):c.1290-12dup
NM_005045.4(RELN):c.1290-3del rs146986040
NM_005045.4(RELN):c.1290-3dup rs146986040
NM_005045.4(RELN):c.1515G>A (p.Glu505=)
NM_005045.4(RELN):c.1789C>T (p.His597Tyr) rs779014769
NM_005045.4(RELN):c.1791T>G (p.His597Gln)
NM_005045.4(RELN):c.1797C>T (p.Arg599=)
NM_005045.4(RELN):c.1806C>T (p.Ser602=)
NM_005045.4(RELN):c.1883A>T (p.Asn628Ile)
NM_005045.4(RELN):c.2003-12dup rs768288120
NM_005045.4(RELN):c.2124A>C (p.Pro708=)
NM_005045.4(RELN):c.227-17del rs561211301
NM_005045.4(RELN):c.227-26dup rs561211301
NM_005045.4(RELN):c.2370G>A (p.Gln790=)
NM_005045.4(RELN):c.2466-7del rs571882672
NM_005045.4(RELN):c.2466-7dup rs571882672
NM_005045.4(RELN):c.2466-8_2466-7del
NM_005045.4(RELN):c.2643G>A (p.Gln881=)
NM_005045.4(RELN):c.2907A>G (p.Pro969=) rs780891394
NM_005045.4(RELN):c.2989C>T (p.Leu997Phe) rs362691
NM_005045.4(RELN):c.2992C>G (p.Leu998Val) rs201003473
NM_005045.4(RELN):c.3099C>T (p.Cys1033=)
NM_005045.4(RELN):c.3708T>G (p.Pro1236=)
NM_005045.4(RELN):c.3829A>G (p.Met1277Val) rs555946635
NM_005045.4(RELN):c.4005A>G (p.Lys1335=) rs1242460681
NM_005045.4(RELN):c.4368G>A (p.Gly1456=)
NM_005045.4(RELN):c.4589-15T>C
NM_005045.4(RELN):c.4589-8del
NM_005045.4(RELN):c.4589-8dup rs751121994
NM_005045.4(RELN):c.4833T>C (p.Asp1611=)
NM_005045.4(RELN):c.4854C>T (p.Ala1618=)
NM_005045.4(RELN):c.4937-4del rs35268159
NM_005045.4(RELN):c.4937-4dup rs35268159
NM_005045.4(RELN):c.4937-5_4937-4dup rs35268159
NM_005045.4(RELN):c.5151C>T (p.Tyr1717=)
NM_005045.4(RELN):c.5211-10_5211-7del rs34125550
NM_005045.4(RELN):c.5211-7del rs34125550
NM_005045.4(RELN):c.5827G>C (p.Asp1943His)
NM_005045.4(RELN):c.6073-14del
NM_005045.4(RELN):c.6303-42_6303-40del rs74440147
NM_005045.4(RELN):c.6541A>C (p.Arg2181=)
NM_005045.4(RELN):c.6931-16dup
NM_005045.4(RELN):c.7059C>T (p.Ala2353=)
NM_005045.4(RELN):c.7110_7111inv (p.Ala2371Thr)
NM_005045.4(RELN):c.7189T>C (p.Leu2397=)
NM_005045.4(RELN):c.7490+16dup rs761790873
NM_005045.4(RELN):c.7590C>T (p.Asn2530=)
NM_005045.4(RELN):c.7821C>T (p.Asn2607=)
NM_005045.4(RELN):c.805+13dup
NM_005045.4(RELN):c.8061A>G (p.Ala2687=)
NM_005045.4(RELN):c.8120-9dup
NM_005045.4(RELN):c.8205T>C (p.His2735=)
NM_005045.4(RELN):c.8799T>C (p.Thr2933=)
NM_005045.4(RELN):c.8922C>T (p.Gly2974=) rs544687307
NM_005045.4(RELN):c.9295AAG[1] (p.Lys3100del) rs762015967
NM_005045.4(RELN):c.9370-13_9370-8del rs141397961
NM_005045.4(RELN):c.9444-10G>T rs575743816
NM_005045.4(RELN):c.9444-12dup
NM_005045.4(RELN):c.9730G>A (p.Gly3244Ser) rs73714410
NM_005045.4(RELN):c.9888G>A (p.Gly3296=)
NM_005055.5(RAPSN):c.1166+19del rs760797252
NM_005055.5(RAPSN):c.1166+19dup
NM_005055.5(RAPSN):c.691-11del rs34729771
NM_005105.5(RBM8A):c.127+21dup
NM_005105.5(RBM8A):c.206-13del
NM_005105.5(RBM8A):c.206-13dup
NM_005105.5(RBM8A):c.206-20T>C rs117017431
NM_005138.3(SCO2):c.59G>C (p.Arg20Pro) rs140523
NM_005159.4(ACTC1):c.*388G>A rs1370154
NM_005159.5(ACTC1):c.129+6C>G rs564151494
NM_005159.5(ACTC1):c.130-11dup rs2140432284
NM_005159.5(ACTC1):c.930T>C (p.Gly310=) rs561081869
NM_005184.4(CALM3):c.179-14del rs577585466
NM_005184.4(CALM3):c.3+18dup rs761428143
NM_005184.4(CALM3):c.35-14C>G rs370430097
NM_005188.4(CBL):c.107ACC[8] (p.His42dup) rs373212940
NM_005199.5(CHRNG):c.*477C>A rs59295139
NM_005199.5(CHRNG):c.921-68del rs10714586
NM_005219.5(DIAPH1):c.145-12dup rs1311979036
NM_005219.5(DIAPH1):c.1462-7dup rs1289998659
NM_005219.5(DIAPH1):c.1821TCC[10] (p.Pro620del) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[12] (p.Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[13] (p.Pro619_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[16] (p.Pro616_Pro620dup) rs3075570
NM_005219.5(DIAPH1):c.1821TCC[9] (p.Pro619_Pro620del) rs3075570
NM_005219.5(DIAPH1):c.2483-10del
NM_005219.5(DIAPH1):c.301-14dup
NM_005219.5(DIAPH1):c.3149-25_3149-15dup rs79558427
NM_005219.5(DIAPH1):c.3149-25dup rs79558427
NM_005219.5(DIAPH1):c.3149-3del rs79558427
NM_005219.5(DIAPH1):c.402+12del rs555848272
NM_005219.5(DIAPH1):c.685-8_685-6del rs773403319
NM_005236.3(ERCC4):c.1213+11dup
NM_005236.3(ERCC4):c.241G>T (p.Val81Phe) rs55761944
NM_005236.3(ERCC4):c.974-7_974-6inv
NM_005257.6(GATA6):c.1653G>A (p.Glu551=) rs564934973
NM_005257.6(GATA6):c.750C>A (p.Gly250=) rs1024528816
NM_005257.6(GATA6):c.969CCA[9] (p.His333del) rs562588574
NM_005271.5(GLUD1):c.1198-9C>G rs201421730
NM_005271.5(GLUD1):c.1198-9C>T
NM_005271.5(GLUD1):c.1403-11dup rs550609501
NM_005271.5(GLUD1):c.1647G>A (p.Val549=) rs756484571
NM_005271.5(GLUD1):c.582+18A>G
NM_005271.5(GLUD1):c.646+16_646+17del rs201141455
NM_005271.5(GLUD1):c.647-5C>G rs201611802
NM_005327.7(HADH):c.261+16C>T rs71601073
NM_005359.6(SMAD4):c.*1864C>A rs561442548
NM_005359.6(SMAD4):c.*1866A>G rs4940037
NM_005359.6(SMAD4):c.*5631AC[3] rs368759758
NM_005359.6(SMAD4):c.*5691_*5693del rs374306389
NM_005359.6(SMAD4):c.*5863_*5867del rs78989198
NM_005359.6(SMAD4):c.*5994A>C rs3819122
NM_005359.6(SMAD4):c.1632G>A (p.Pro544=) rs549489716
NM_005359.6(SMAD4):c.633T>C (p.Thr211=) rs1060504027
NM_005360.5(MAF):c.-30GGC[7] rs5818251
NM_005360.5(MAF):c.293C>A (p.Pro98Gln) rs878873480
NM_005360.5(MAF):c.456C>T (p.Gly152=) rs1913849090
NM_005360.5(MAF):c.592G>A (p.Gly198Ser)
NM_005360.5(MAF):c.594C>T (p.Gly198=)
NM_005360.5(MAF):c.641G>C (p.Gly214Ala)
NM_005360.5(MAF):c.678CGG[4] (p.Gly235_Gly238del) rs887468453
NM_005413.4(SIX3):c.187GGC[8] (p.Gly69dup) rs555285206
NM_005413.4(SIX3):c.58G>T (p.Ala20Ser) rs200575650
NM_005413.4(SIX3):c.909G>C (p.Pro303=) rs560888073
NM_005445.4(SMC3):c.-92G>T rs558632292
NM_005445.4(SMC3):c.-99C>A rs148267784
NM_005445.4(SMC3):c.1509+16del
NM_005445.4(SMC3):c.1963+16T>C
NM_005445.4(SMC3):c.2535+28del rs397847637
NM_005445.4(SMC3):c.2645-8del
NM_005445.4(SMC3):c.270+17_270+18del
NM_005445.4(SMC3):c.270+18del
NM_005445.4(SMC3):c.270+18dup rs756099489
NM_005445.4(SMC3):c.2886C>T (p.Leu962=)
NM_005445.4(SMC3):c.2893-17A>G
NM_005445.4(SMC3):c.3298-3dup rs750133429
NM_005445.4(SMC3):c.350+21del
NM_005445.4(SMC3):c.350+21dup
NM_005445.4(SMC3):c.548-5_548-4dup rs199906378
NM_005445.4(SMC3):c.724-6dup rs11380915
NM_005465.7(AKT3):c.1251+15T>C
NM_005465.7(AKT3):c.173-23_173-20del rs773557899
NM_005465.7(AKT3):c.430-17dup rs780927904
NM_005465.7(AKT3):c.46+11C>T
NM_005465.7(AKT3):c.628-9dup
NM_005529.7(HSPG2):c.11187G>T (p.Val3729=) rs2229487
NM_005529.7(HSPG2):c.11685C>G (p.Pro3895=) rs62642501
NM_005529.7(HSPG2):c.12952C>A (p.Arg4318=) rs3736358
NM_005529.7(HSPG2):c.1818+15_1818+27del rs60267433
NM_005529.7(HSPG2):c.2471+21A>G rs2454293
NM_005529.7(HSPG2):c.444G>C (p.Leu148=) rs2254357
NM_005529.7(HSPG2):c.7446+34C>A rs6658388
NM_005529.7(HSPG2):c.744T>C (p.Leu248=) rs2229478
NM_005554.4(KRT6A):c.1031T>C (p.Ile344Thr)
NM_005555.4(KRT6B):c.332G>A (p.Gly111Asp) rs61745883
NM_005559.4(LAMA1):c.2274+70dup rs113133818
NM_005559.4(LAMA1):c.4479A>G (p.Ser1493=) rs625106
NM_005585.5(SMAD6):c.120C>A (p.Gly40=) rs149612008
NM_005585.5(SMAD6):c.120C>T (p.Gly40=) rs149612008
NM_005585.5(SMAD6):c.952+13del rs761315842
NM_005592.4(MUSK):c.1250C>T (p.Thr417Ile) rs538655454
NM_005592.4(MUSK):c.1778+25del
NM_005592.4(MUSK):c.1927+9dup rs555725730
NM_005592.4(MUSK):c.2485G>T (p.Val829Leu) rs578430
NM_005592.4(MUSK):c.486+22del
NM_005592.4(MUSK):c.920+25del rs147974075
NM_005629.4(SLC6A8):c.1027A>G (p.Ile343Val) rs2148363171
NM_005629.4(SLC6A8):c.1141+37G>A
NM_005629.4(SLC6A8):c.1254+18G>A
NM_005629.4(SLC6A8):c.1392+17G>A rs782120123
NM_005629.4(SLC6A8):c.1392+17dup rs781964988
NM_005629.4(SLC6A8):c.1393-3del
NM_005629.4(SLC6A8):c.1419T>C (p.Phe473=)
NM_005629.4(SLC6A8):c.1596+11G>A rs782481342
NM_005629.4(SLC6A8):c.1596+14dup
NM_005629.4(SLC6A8):c.1596+24_1597-41dup rs782797794
NM_005629.4(SLC6A8):c.1627G>C (p.Glu543Gln) rs782028471
NM_005629.4(SLC6A8):c.1692C>G (p.Phe564Leu) rs201044530
NM_005629.4(SLC6A8):c.1692C>T (p.Phe564=) rs201044530
NM_005629.4(SLC6A8):c.1767+11C>T rs782709232
NM_005629.4(SLC6A8):c.1767+8_1767+11dup rs1185206859
NM_005629.4(SLC6A8):c.1861C>T (p.Pro621Ser) rs782388832
NM_005629.4(SLC6A8):c.1901T>C (p.Val634Ala) rs1236176576
NM_005629.4(SLC6A8):c.497C>T (p.Thr166Met) rs1479462836
NM_005629.4(SLC6A8):c.617G>A (p.Arg206His)
NM_005629.4(SLC6A8):c.61C>T (p.Pro21Ser)
NM_005629.4(SLC6A8):c.645-17C>T
NM_005629.4(SLC6A8):c.74C>T (p.Pro25Leu)
NM_005629.4(SLC6A8):c.76G>C (p.Gly26Arg)
NM_005629.4(SLC6A8):c.778-3dup
NM_005629.4(SLC6A8):c.778-8C>G rs781860529
NM_005629.4(SLC6A8):c.87G>A (p.Gly29=) rs782373793
NM_005629.4(SLC6A8):c.912+19G>A rs782518872
NM_005629.4(SLC6A8):c.913-19C>T rs782810502
NM_005631.5(SMO):c.747+24G>C rs2075777
NM_005633.3:c.213+15C>G
NM_005633.4(SOS1):c.*1333_*1336dup rs35969619
NM_005633.4(SOS1):c.*2138G>T rs184227916
NM_005633.4(SOS1):c.*2574A>G rs539933930
NM_005633.4(SOS1):c.2167+16del rs79984786
NM_005633.4(SOS1):c.2167+16dup rs79984786
NM_005633.4(SOS1):c.225A>G (p.Gln75=) rs560037748
NM_005633.4(SOS1):c.2511-9del rs727503436
NM_005633.4(SOS1):c.2674-22C>G rs61601281
NM_005633.4(SOS1):c.2792-50dup rs869215095
NM_005633.4(SOS1):c.2964+32T>G rs727505384
NM_005633.4(SOS1):c.3658G>A (p.Val1220Met) rs776814547
NM_005660.3(SLC35A2):c.1042A>G (p.Ile348Val)
NM_005660.3(SLC35A2):c.1050TGCCTC[1] (p.349AS[3]) rs781977360
NM_005660.3(SLC35A2):c.1058CCTCCG[1] (p.349AS[3]) rs782439562
NM_005660.3(SLC35A2):c.1068C>T (p.Ser356=)
NM_005660.3(SLC35A2):c.1069G>A (p.Gly357Arg) rs782347244
NM_005660.3(SLC35A2):c.1130G>A (p.Arg377His) rs369048466
NM_005660.3(SLC35A2):c.1130G>C (p.Arg377Pro) rs369048466
NM_005660.3(SLC35A2):c.1163+16G>T
NM_005660.3(SLC35A2):c.292G>A (p.Val98Ile)
NM_005660.3(SLC35A2):c.439C>T (p.Leu147=)
NM_005660.3(SLC35A2):c.578G>A (p.Arg193Gln) rs1602338782
NM_005660.3(SLC35A2):c.610G>A (p.Ala204Thr) rs2147487234
NM_005660.3(SLC35A2):c.66A>G (p.Ala22=)
NM_005660.3(SLC35A2):c.91+9G>C
NM_005732.4(RAD50):c.1839T>C (p.Asn613=) rs1316773244
NM_005732.4(RAD50):c.2352T>C (p.Ser784=) rs534731345
NM_005732.4(RAD50):c.2436A>G (p.Gln812=) rs1554099149
NM_005732.4(RAD50):c.3164+14del rs148895884
NM_005751.5(AKAP9):c.11298G>A (p.Arg3766=) rs775989174
NM_005751.5(AKAP9):c.11416+23del
NM_005751.5(AKAP9):c.11546+58T>A rs7785971
NM_005751.5(AKAP9):c.1242C>T (p.Phe414=) rs200250245
NM_005751.5(AKAP9):c.4245+13del rs779223487
NM_005751.5(AKAP9):c.4918-10dup rs755283199
NM_005751.5(AKAP9):c.7773A>C (p.Gln2591His) rs553800160
NM_005751.5(AKAP9):c.813C>T (p.Leu271=) rs776451600
NM_005751.5(AKAP9):c.8345C>T (p.Thr2782Ile) rs543634397
NM_005751.5(AKAP9):c.8646+59del rs34688691
NM_005751.5(AKAP9):c.9124C>T (p.Leu3042=) rs1447756030
NM_005751.5(AKAP9):c.931-8dup
NM_005751.5(AKAP9):c.9358+10A>G rs180926926
NM_005816.5(CD96):c.*2093del rs200341777
NM_005869.4(CWC27):c.1209G>A (p.Thr403=) rs1309581
NM_005869.4(CWC27):c.600-21del rs11340181
NM_005883.3(APC2):c.4384A>C (p.Arg1462=) rs265273
NM_005908.4(MANBA):c.1318-13del
NM_005908.4(MANBA):c.1485+16del rs2110216761
NM_005908.4(MANBA):c.1485+9T>C rs199592616
NM_005908.4(MANBA):c.1704+10C>T
NM_005908.4(MANBA):c.1705-13C>A rs34754408
NM_005908.4(MANBA):c.1705-13C>T rs34754408
NM_005908.4(MANBA):c.2102C>T (p.Thr701Met) rs2866413
NM_005908.4(MANBA):c.2416-10del rs5860729
NM_005908.4(MANBA):c.2416-11_2416-10del rs5860729
NM_005908.4(MANBA):c.2416-20dup rs5860729
NM_005908.4(MANBA):c.2473G>T (p.Ala825Ser) rs182869272
NM_005908.4(MANBA):c.273-3del
NM_005908.4(MANBA):c.273-3dup
NM_005921.2(MAP3K1):c.2013G>A (p.Ala671=)
NM_005921.2(MAP3K1):c.228G>C (p.Gln76His)
NM_005921.2(MAP3K1):c.233_234delinsCT (p.Leu78Pro) rs1554028405
NM_005921.2(MAP3K1):c.2824ACA[7] (p.Thr949del) rs5868032
NM_005921.2(MAP3K1):c.2864T>C (p.Met955Thr)
NM_005921.2(MAP3K1):c.293C>G (p.Ala98Gly)
NM_005921.2(MAP3K1):c.4074G>A (p.Ser1358=)
NM_005921.2(MAP3K1):c.4278T>C (p.Tyr1426=) rs547649904
NM_005921.2(MAP3K1):c.4416G>T (p.Ser1472=) rs201067455
NM_005921.2(MAP3K1):c.476C>T (p.Pro159Leu)
NM_005921.2(MAP3K1):c.5CGG[5] (p.Ala5dup) rs779149827
NM_005921.2(MAP3K1):c.633+815T>C rs1017226
NM_005921.2(MAP3K1):c.835-11dup rs201780112
NM_005957.5(MTHFR):c.*4644dup rs55740775
NM_005982.4(SIX1):c.561-34_561-31del rs34899649
NM_005993.5(TBCD):c.2038+41C>G rs12601746
NM_005996.4(TBX3):c.*1285A>G rs1061651
NM_005996.4(TBX3):c.-591del rs11356115
NM_005996.4(TBX3):c.-895TC[14] rs57078153
NM_005996.4(TBX3):c.100C>T (p.Leu34=)
NM_005996.4(TBX3):c.1101C>G (p.Pro367=) rs761242306
NM_005996.4(TBX3):c.881+14_881+17del rs139956231
NM_006012.4(CLPP):c.199-31dup rs57445020
NM_006015.6(ARID1A):c.114GGC[6] (p.Ala45dup) rs587779737
NM_006015.6(ARID1A):c.2252-97A>T rs113319329
NM_006015.6(ARID1A):c.3978GCA[9] (p.Gln1334dup) rs374564889
NM_006015.6(ARID1A):c.4994-20G>C rs113553273
NM_006015.6(ARID1A):c.5287GAA[4] (p.Glu1767del) rs753766136
NM_006015.6(ARID1A):c.5717G>A (p.Arg1906Gln) rs41303631
NM_006015.6(ARID1A):c.581C>T (p.Pro194Leu) rs764060744
NM_006031.5(PCNT):c.-100delG rs397802954
NM_006031.6(PCNT):c.1542C>A (p.Ser514=) rs2249057
NM_006031.6(PCNT):c.1542C>T (p.Ser514=) rs2249057
NM_006031.6(PCNT):c.467_505dup (p.His156_Gln168dup) rs587784306
NM_006031.6(PCNT):c.6150+11G>C rs10222116
NM_006031.6(PCNT):c.6922-5_6922-4insTCTGA rs59957960
NM_006147.4(IRF6):c.*1678del rs141112353
NM_006147.4(IRF6):c.*2597G>A rs1856161
NM_006147.4(IRF6):c.1173G>T (p.Leu391Phe) rs141653312
NM_006147.4(IRF6):c.362G>T (p.Gly121Val) rs1553248247
NM_006147.4(IRF6):c.390G>A (p.Gly130=) rs34907424
NM_006147.4(IRF6):c.390G>T (p.Gly130=) rs34907424
NM_006147.4(IRF6):c.443A>G (p.Asp148Gly) rs1553248182
NM_006147.4(IRF6):c.457T>G (p.Ser153Ala) rs1553248180
NM_006147.4(IRF6):c.490C>G (p.Pro164Ala) rs1033149441
NM_006147.4(IRF6):c.635G>A (p.Ser212Asn) rs1553247880
NM_006147.4(IRF6):c.667+27C>G rs2235375
NM_006182.4(DDR2):c.*187_*188del rs5778295
NM_006265.3(RAD21):c.1131T>C (p.Ala377=)
NM_006265.3(RAD21):c.1564C>G (p.Leu522Val)
NM_006265.3(RAD21):c.1620+11_1620+14del
NM_006265.3(RAD21):c.274+26GTT[5] rs112562183
NM_006265.3(RAD21):c.689-15C>A
NM_006265.3(RAD21):c.815-10_815-5del rs35902828
NM_006265.3(RAD21):c.815-15_815-5del
NM_006265.3(RAD21):c.815-27dup rs35902828
NM_006265.3(RAD21):c.815-5del rs35902828
NM_006265.3(RAD21):c.815-6_815-5del rs35902828
NM_006265.3(RAD21):c.938-14del
NM_006265.3(RAD21):c.938-14dup
NM_006270.5(RRAS):c.454-10dup
NM_006270.5(RRAS):c.54A>T (p.Gly18=) rs571103858
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006306.4(SMC1A):c.1005G>T (p.Glu335Asp)
NM_006306.4(SMC1A):c.1057C>T (p.Arg353Trp)
NM_006306.4(SMC1A):c.1113+17del
NM_006306.4(SMC1A):c.1152G>A (p.Lys384=)
NM_006306.4(SMC1A):c.1546-11A>G
NM_006306.4(SMC1A):c.2421-15del
NM_006306.4(SMC1A):c.2421-15dup rs781926382
NM_006306.4(SMC1A):c.2563-7G>A
NM_006306.4(SMC1A):c.2614G>A (p.Asp872Asn) rs2146593635
NM_006306.4(SMC1A):c.270G>C (p.Glu90Asp)
NM_006306.4(SMC1A):c.2863-14C>T
NM_006306.4(SMC1A):c.2973+11A>G
NM_006306.4(SMC1A):c.2973+18G>A rs782310979
NM_006306.4(SMC1A):c.3131-19C>T
NM_006306.4(SMC1A):c.3286-4del rs782700135
NM_006306.4(SMC1A):c.3508-15C>T
NM_006306.4(SMC1A):c.3592G>A (p.Glu1198Lys) rs782175064
NM_006306.4(SMC1A):c.497A>G (p.Gln166Arg) rs2146605622
NM_006306.4(SMC1A):c.616-6G>A rs587784424
NM_006306.4(SMC1A):c.854+6_854+7del rs1569358983
NM_006329.4(FBLN5):c.422C>T (p.Thr141Ile) rs1890163941
NM_006331.8(EMG1):c.126dup (p.Leu43fs) rs60117710
NM_006346.4(PIBF1):c.1223+15dup rs200683940
NM_006364.4(SEC23A):c.2209-13dup rs11418467
NM_006364.4(SEC23A):c.222-16dup rs5808022
NM_006364.4(SEC23A):c.631C>G (p.Leu211Val) rs8018720
NM_006371.5(CRTAP):c.*2628G>A rs115744599
NM_006371.5(CRTAP):c.*3891C>T rs4678478
NM_006371.5(CRTAP):c.558A>G (p.Ala186=) rs35357409
NM_006371.5(CRTAP):c.623G>A (p.Ser208Asn) rs574565076
NM_006412.4(AGPAT2):c.*79C>G rs112657922
NM_006416.5(SLC35A1):c.*521_*522insAATG rs10681831
NM_006486.3(FBLN1):c.963C>T (p.Ile321=) rs9682
NM_006494.4(ERF):c.408G>A (p.Pro136=)
NM_006494.4(ERF):c.615C>G (p.Arg205=) rs11557114
NM_006567.5(FARS2):c.462G>A (p.Ala154=) rs150477330
NM_006567.5(FARS2):c.829A>G (p.Met277Val)
NM_006567.5(FARS2):c.835A>G (p.Ile279Val)
NM_006567.5(FARS2):c.839A>C (p.Asn280Thr) rs11243011
NM_006567.5(FARS2):c.839A>G (p.Asn280Ser) rs11243011
NM_006567.5(FARS2):c.846T>A (p.His282Gln) rs764139130
NM_006623.3(PHGDH):c.-101G>C rs562038
NM_006623.4(PHGDH):c.792+16C>T rs2101199027
NM_006757.4(TNNT3):c.107-134T>G rs2292473
NM_006767.4(LZTR1):c.321-14_321-3del rs137977968
NM_006796.3(AFG3L2):c.*311C>T rs79884272
NM_006796.3(AFG3L2):c.2314C>T (p.Leu772Phe) rs117182113
NM_006796.3(AFG3L2):c.753-55T>C rs7407640
NM_006888.6(CALM1):c.179-9dup
NM_006888.6(CALM1):c.4-15del
NM_006912.6(RIT1):c.430-11dup
NM_006918.5(SC5D):c.*2962del rs5795265
NM_006939.4(SOS2):c.1069-6dup rs756206186
NM_006939.4(SOS2):c.1197-5del
NM_006939.4(SOS2):c.1197-5dup
NM_006939.4(SOS2):c.1243C>T (p.Leu415=)
NM_006939.4(SOS2):c.1263T>C (p.Asn421=) rs369267864
NM_006939.4(SOS2):c.1833A>G (p.Leu611=)
NM_006939.4(SOS2):c.1935-20C>G rs376985307
NM_006939.4(SOS2):c.1998G>A (p.Gln666=)
NM_006939.4(SOS2):c.2007T>A (p.Ser669Arg)
NM_006939.4(SOS2):c.2057+19_2057+20del rs111970905
NM_006939.4(SOS2):c.2057+20del rs111970905
NM_006939.4(SOS2):c.2217G>A (p.Lys739=) rs186110427
NM_006939.4(SOS2):c.2786-18_2786-17dup rs201957103
NM_006939.4(SOS2):c.2786-18dup rs201957103
NM_006939.4(SOS2):c.2786-6del rs201957103
NM_006939.4(SOS2):c.2854G>T (p.Asp952Tyr)
NM_006939.4(SOS2):c.3151A>G (p.Thr1051Ala)
NM_006939.4(SOS2):c.3338-14del rs1362501070
NM_006939.4(SOS2):c.3380-10del rs749810829
NM_006939.4(SOS2):c.3481A>G (p.Asn1161Asp)
NM_006939.4(SOS2):c.3490-13_3490-11dup rs10658395
NM_006939.4(SOS2):c.3490-13_3490-12dup rs10658395
NM_006939.4(SOS2):c.3490-13dup rs10658395
NM_006939.4(SOS2):c.3490-4del rs10658395
NM_006939.4(SOS2):c.3540TCC[4] (p.Pro1183dup) rs765097073
NM_006939.4(SOS2):c.3813G>A (p.Pro1271=) rs2227276
NM_006939.4(SOS2):c.3818G>A (p.Arg1273Gln) rs58365465
NM_006939.4(SOS2):c.3934C>A (p.Arg1312=) rs775973831
NM_006939.4(SOS2):c.3952C>G (p.Pro1318Ala)
NM_006939.4(SOS2):c.399A>C (p.Val133=) rs144584870
NM_006939.4(SOS2):c.414A>G (p.Ser138=)
NM_006939.4(SOS2):c.564A>G (p.Glu188=)
NM_006939.4(SOS2):c.622G>A (p.Ala208Thr) rs61755579
NM_006939.4(SOS2):c.622G>T (p.Ala208Ser) rs61755579
NM_006939.4(SOS2):c.705T>G (p.Phe235Leu)
NM_006939.4(SOS2):c.714+14del rs2139733668
NM_006939.4(SOS2):c.859-19del
NM_006939.4(SOS2):c.859-4del rs776327707
NM_006939.4(SOS2):c.934T>C (p.Leu312=)
NM_006941.4(SOX10):c.429-12A>G rs753723642
NM_007055.4(POLR3A):c.*272G>C rs2241547
NM_007055.4(POLR3A):c.1745G>A (p.Arg582His) rs34588967
NM_007055.4(POLR3A):c.1745G>T (p.Arg582Leu) rs34588967
NM_007055.4(POLR3A):c.1771-6C>T rs115020338
NM_007059.4(KPTN):c.1101G>T (p.Leu367=)
NM_007059.4(KPTN):c.226+11C>A
NM_007118.4(TRIO):c.8162C>T (p.Pro2721Leu)
NM_007129.5(ZIC2):c.1281C>G (p.Ala427=)
NM_007129.5(ZIC2):c.692ACC[10] (p.His239dup) rs398124241
NM_007129.5(ZIC2):c.692ACC[8] (p.His239del) rs398124241
NM_007215.4(POLG2):c.-61G>A rs552693721
NM_007215.4(POLG2):c.1191+6dup rs60611997
NM_007254.4(PNKP):c.538C>A (p.Arg180Ser) rs3739185
NM_007255.3(B4GALT7):c.413+60C>G rs28499092
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.4(BRCA1):c.441+36_441+49del rs373413425
NM_007294.4(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007373.4(SHOC2):c.1541-7del rs371544139
NM_007373.4(SHOC2):c.703+15ATT[3] rs370351651
NM_007373.4(SHOC2):c.973-5del rs730881016
NM_012082.4(ZFPM2):c.1255G>A (p.Glu419Lys) rs374581095
NM_012082.4(ZFPM2):c.1770G>C (p.Lys590Asn) rs533177469
NM_012082.4(ZFPM2):c.1818_1820del (p.Leu607del) rs763555819
NM_012082.4(ZFPM2):c.191G>A (p.Cys64Tyr)
NM_012082.4(ZFPM2):c.2097C>T (p.His699=) rs139368368
NM_012082.4(ZFPM2):c.3393T>G (p.Leu1131=)
NM_012082.4(ZFPM2):c.41-10C>G
NM_012082.4(ZFPM2):c.965-11T>C rs189501457
NM_012082.4(ZFPM2):c.965-9TC[2] rs147661076
NM_012123.4(MTO1):c.1059A>G (p.Leu353=) rs201656868
NM_012123.4(MTO1):c.1785A>G (p.Gln595=) rs147990749
NM_012123.4(MTO1):c.1917+17_1917+19del rs760158320
NM_012123.4(MTO1):c.938+7= rs7766570
NM_012200.4(B3GAT3):c.909+263C>G rs12794886
NM_012205.3(HAAO):c.124A>T (p.Thr42Ser) rs3816182
NM_012233.3(RAB3GAP1):c.*1208del rs200869351
NM_012233.3(RAB3GAP1):c.*261dup rs143703110
NM_012233.3(RAB3GAP1):c.2800C>G (p.Pro934Ala) rs77535003
NM_012243.3(SLC35A3):c.635-3dup
NM_012243.3(SLC35A3):c.887+25dup
NM_012250.6(RRAS2):c.409-16A>T rs2303972
NM_012293.3(PXDN):c.1408+164T>C rs890055
NM_012293.3(PXDN):c.2640C>G (p.Arg880=) rs79442404
NM_012293.3(PXDN):c.272+18A>G
NM_012293.3(PXDN):c.2730A>C (p.Ile910=) rs1863135
NM_012293.3(PXDN):c.2748C>T (p.Tyr916=)
NM_012293.3(PXDN):c.2821G>A (p.Val941Met) rs189824177
NM_012293.3(PXDN):c.3138G>A (p.Thr1046=) rs147695468
NM_012293.3(PXDN):c.3906C>T (p.Asp1302=) rs111450110
NM_012293.3(PXDN):c.4206+73G>C rs6742039
NM_012293.3(PXDN):c.4206+81A>G rs6729142
NM_012293.3(PXDN):c.681C>T (p.Arg227=)
NM_012330.4(KAT6B):c.104C>T (p.Ala35Val)
NM_012330.4(KAT6B):c.1388G>A (p.Arg463His)
NM_012330.4(KAT6B):c.1485A>G (p.Pro495=)
NM_012330.4(KAT6B):c.1684C>T (p.His562Tyr)
NM_012330.4(KAT6B):c.2008A>G (p.Ile670Val)
NM_012330.4(KAT6B):c.2042T>A (p.Val681Glu)
NM_012330.4(KAT6B):c.2084T>C (p.Val695Ala)
NM_012330.4(KAT6B):c.2124G>C (p.Glu708Asp)
NM_012330.4(KAT6B):c.2270A>G (p.Tyr757Cys)
NM_012330.4(KAT6B):c.2373+23del
NM_012330.4(KAT6B):c.2373+6C>T rs192506542
NM_012330.4(KAT6B):c.2612G>A (p.Arg871Gln)
NM_012330.4(KAT6B):c.2744A>G (p.Tyr915Cys)
NM_012330.4(KAT6B):c.2878C>T (p.Arg960Trp) rs147643220
NM_012330.4(KAT6B):c.2950A>T (p.Ser984Cys)
NM_012330.4(KAT6B):c.2992T>A (p.Ser998Thr) rs776774212
NM_012330.4(KAT6B):c.299A>G (p.Asn100Ser)
NM_012330.4(KAT6B):c.3146C>T (p.Pro1049Leu)
NM_012330.4(KAT6B):c.3231_3242del (p.Asp1077_Glu1080del) rs569172957
NM_012330.4(KAT6B):c.3240GGAAGAAGAGGA[1] (p.Glu1086_Glu1089del) rs201769534
NM_012330.4(KAT6B):c.3289GAA[7] (p.Glu1104del) rs71929101
NM_012330.4(KAT6B):c.3316A>G (p.Ile1106Val)
NM_012330.4(KAT6B):c.3409C>A (p.Arg1137Ser)
NM_012330.4(KAT6B):c.3704G>A (p.Ser1235Asn)
NM_012330.4(KAT6B):c.3717C>T (p.Pro1239=) rs147746065
NM_012330.4(KAT6B):c.4079AAGAGGAAG[2] (p.Glu1366_Glu1368del) rs375513122
NM_012330.4(KAT6B):c.4079AAGAGGAAG[4] (p.Glu1366_Glu1368dup) rs375513122
NM_012330.4(KAT6B):c.4099G>C (p.Glu1367Gln)
NM_012330.4(KAT6B):c.4109AAG[5] (p.Glu1373dup) rs751483850
NM_012330.4(KAT6B):c.423C>G (p.Ser141Arg)
NM_012330.4(KAT6B):c.425C>T (p.Thr142Ile) rs1054836015
NM_012330.4(KAT6B):c.4279G>T (p.Asp1427Tyr)
NM_012330.4(KAT6B):c.4285G>A (p.Glu1429Lys) rs1846114839
NM_012330.4(KAT6B):c.4376T>C (p.Phe1459Ser)
NM_012330.4(KAT6B):c.4397C>G (p.Pro1466Arg)
NM_012330.4(KAT6B):c.4423A>G (p.Met1475Val) rs774593261
NM_012330.4(KAT6B):c.4447G>C (p.Ala1483Pro)
NM_012330.4(KAT6B):c.4486C>A (p.Pro1496Thr)
NM_012330.4(KAT6B):c.4514A>G (p.Glu1505Gly) rs2134241318
NM_012330.4(KAT6B):c.4534G>C (p.Ala1512Pro)
NM_012330.4(KAT6B):c.4573A>G (p.Thr1525Ala)
NM_012330.4(KAT6B):c.4609A>G (p.Ile1537Val)
NM_012330.4(KAT6B):c.4657A>T (p.Ser1553Cys)
NM_012330.4(KAT6B):c.4727C>A (p.Thr1576Asn)
NM_012330.4(KAT6B):c.4730G>A (p.Arg1577His)
NM_012330.4(KAT6B):c.5242G>A (p.Val1748Ile)
NM_012330.4(KAT6B):c.527A>G (p.Tyr176Cys)
NM_012330.4(KAT6B):c.5784G>A (p.Lys1928=)
NM_012330.4(KAT6B):c.5806G>T (p.Ala1936Ser)
NM_012330.4(KAT6B):c.592G>C (p.Val198Leu)
NM_012330.4(KAT6B):c.6130G>A (p.Gly2044Ser)
NM_012330.4(KAT6B):c.6149C>T (p.Ala2050Val)
NM_012330.4(KAT6B):c.628G>A (p.Ala210Thr)
NM_012330.4(KAT6B):c.730+19A>G
NM_012330.4(KAT6B):c.731-11del rs772911843
NM_012330.4(KAT6B):c.781G>A (p.Ala261Thr)
NM_012330.4(KAT6B):c.799A>G (p.Ile267Val)
NM_012330.4(KAT6B):c.846T>C (p.Ala282=)
NM_012330.4(KAT6B):c.928+6C>G
NM_012330.4(KAT6B):c.933G>C (p.Met311Ile)
NM_012398.3(PIP5K1C):c.684G>A (p.Ser228=) rs2074957
NM_012414.4(RAB3GAP2):c.*2920CTT[1] rs3217443
NM_012414.4(RAB3GAP2):c.1126G>A (p.Val376Ile)
NM_012414.4(RAB3GAP2):c.2310+13dup
NM_012414.4(RAB3GAP2):c.2578-6dup
NM_012414.4(RAB3GAP2):c.304+12A>G rs530311696
NM_012414.4(RAB3GAP2):c.3262-4dup
NM_012414.4(RAB3GAP2):c.3999C>T (p.Pro1333=) rs539609673
NM_012414.4(RAB3GAP2):c.613-14del rs572027376
NM_012414.4(RAB3GAP2):c.613-24dup rs572027376
NM_012414.4(RAB3GAP2):c.812-6del rs35396665
NM_012414.4(RAB3GAP2):c.812-6dup rs35396665
NM_012414.4(RAB3GAP2):c.812-7_812-6del rs35396665
NM_012431.3(SEMA3E):c.1459-11dup rs1788078377
NM_012431.3(SEMA3E):c.337-11del rs536827692
NM_012431.3(SEMA3E):c.337-11dup rs536827692
NM_012431.3(SEMA3E):c.337-9C>T rs1352755933
NM_012431.3(SEMA3E):c.551-19del
NM_012431.3(SEMA3E):c.999-12dup rs1418610753
NM_012463.4(ATP6V0A2):c.*115C>T rs367543009
NM_012463.4(ATP6V0A2):c.*2353G>T rs74386589
NM_012463.4(ATP6V0A2):c.*3167G>A rs112529654
NM_012463.4(ATP6V0A2):c.732-23T>C rs2271660
NM_013275.6(ANKRD11):c.-268GCC[5] rs953053004
NM_013275.6(ANKRD11):c.1019C>T (p.Thr340Met)
NM_013275.6(ANKRD11):c.1022C>G (p.Ala341Gly)
NM_013275.6(ANKRD11):c.1056C>T (p.Asp352=)
NM_013275.6(ANKRD11):c.1079C>T (p.Pro360Leu)
NM_013275.6(ANKRD11):c.111C>T (p.Thr37=)
NM_013275.6(ANKRD11):c.112A>C (p.Lys38Gln)
NM_013275.6(ANKRD11):c.1254C>G (p.Val418=)
NM_013275.6(ANKRD11):c.1296G>C (p.Thr432=) rs74033734
NM_013275.6(ANKRD11):c.130C>T (p.Arg44Cys)
NM_013275.6(ANKRD11):c.135C>T (p.Gly45=)
NM_013275.6(ANKRD11):c.141C>T (p.Gly47=)
NM_013275.6(ANKRD11):c.1440G>A (p.Glu480=)
NM_013275.6(ANKRD11):c.151G>T (p.Val51Leu)
NM_013275.6(ANKRD11):c.1671G>A (p.Pro557=)
NM_013275.6(ANKRD11):c.1674T>C (p.Ala558=)
NM_013275.6(ANKRD11):c.1844C>G (p.Ala615Gly) rs115797011
NM_013275.6(ANKRD11):c.190G>A (p.Ala64Thr)
NM_013275.6(ANKRD11):c.191C>T (p.Ala64Val)
NM_013275.6(ANKRD11):c.218C>T (p.Ser73Leu)
NM_013275.6(ANKRD11):c.221A>G (p.Asp74Gly)
NM_013275.6(ANKRD11):c.245G>A (p.Arg82Gln)
NM_013275.6(ANKRD11):c.249G>A (p.Lys83=)
NM_013275.6(ANKRD11):c.2944G>C (p.Glu982Gln)
NM_013275.6(ANKRD11):c.3045C>G (p.Pro1015=) rs150652124
NM_013275.6(ANKRD11):c.3431C>T (p.Pro1144Leu) rs137894790
NM_013275.6(ANKRD11):c.3432G>A (p.Pro1144=)
NM_013275.6(ANKRD11):c.355C>T (p.Leu119Phe)
NM_013275.6(ANKRD11):c.3573C>G (p.Ala1191=) rs62000377
NM_013275.6(ANKRD11):c.376G>C (p.Glu126Gln) rs1276607391
NM_013275.6(ANKRD11):c.3825C>T (p.Asp1275=)
NM_013275.6(ANKRD11):c.3880G>C (p.Glu1294Gln)
NM_013275.6(ANKRD11):c.3927G>A (p.Thr1309=) rs143428884
NM_013275.6(ANKRD11):c.401A>G (p.Asp134Gly)
NM_013275.6(ANKRD11):c.4236AGA[1] (p.Glu1413del) rs778347369
NM_013275.6(ANKRD11):c.430A>G (p.Thr144Ala)
NM_013275.6(ANKRD11):c.4367T>C (p.Leu1456Pro)
NM_013275.6(ANKRD11):c.4442C>T (p.Ala1481Val)
NM_013275.6(ANKRD11):c.450G>A (p.Thr150=)
NM_013275.6(ANKRD11):c.458C>G (p.Ser153Cys)
NM_013275.6(ANKRD11):c.4912C>G (p.Pro1638Ala) rs113527563
NM_013275.6(ANKRD11):c.525C>T (p.Ala175=)
NM_013275.6(ANKRD11):c.540C>T (p.Asp180=)
NM_013275.6(ANKRD11):c.5413G>A (p.Val1805Ile) rs151288302
NM_013275.6(ANKRD11):c.544C>T (p.Arg182Trp)
NM_013275.6(ANKRD11):c.5464G>A (p.Asp1822Asn)
NM_013275.6(ANKRD11):c.580G>A (p.Val194Ile)
NM_013275.6(ANKRD11):c.5877C>T (p.Ala1959=)
NM_013275.6(ANKRD11):c.5908C>A (p.Pro1970Thr)
NM_013275.6(ANKRD11):c.5964C>T (p.Pro1988=)
NM_013275.6(ANKRD11):c.597C>T (p.Phe199=)
NM_013275.6(ANKRD11):c.6072G>C (p.Pro2024=) rs542077760
NM_013275.6(ANKRD11):c.6079C>G (p.Leu2027Val)
NM_013275.6(ANKRD11):c.609G>A (p.Thr203=)
NM_013275.6(ANKRD11):c.612G>A (p.Ala204=)
NM_013275.6(ANKRD11):c.6336C>T (p.Leu2112=)
NM_013275.6(ANKRD11):c.642C>T (p.Tyr214=)
NM_013275.6(ANKRD11):c.649G>A (p.Ala217Thr)
NM_013275.6(ANKRD11):c.6579C>T (p.Asp2193=)
NM_013275.6(ANKRD11):c.6597C>G (p.Leu2199=) rs762643863
NM_013275.6(ANKRD11):c.6602C>T (p.Ala2201Val)
NM_013275.6(ANKRD11):c.6826C>T (p.Pro2276Ser) rs201957371
NM_013275.6(ANKRD11):c.6828G>A (p.Pro2276=)
NM_013275.6(ANKRD11):c.6864C>T (p.Ala2288=)
NM_013275.6(ANKRD11):c.6977C>G (p.Ala2326Gly) rs576742682
NM_013275.6(ANKRD11):c.6977C>T (p.Ala2326Val) rs576742682
NM_013275.6(ANKRD11):c.705C>T (p.Asp235=)
NM_013275.6(ANKRD11):c.717C>T (p.His239=)
NM_013275.6(ANKRD11):c.7407C>T (p.Tyr2469=)
NM_013275.6(ANKRD11):c.745-19G>A
NM_013275.6(ANKRD11):c.7471-17T>G
NM_013275.6(ANKRD11):c.7806+11C>T rs777198327
NM_013275.6(ANKRD11):c.7806+14G>A
NM_013275.6(ANKRD11):c.7806+82G>T rs2306632
NM_013275.6(ANKRD11):c.810G>A (p.Pro270=)
NM_013275.6(ANKRD11):c.81G>A (p.Gly27=)
NM_013275.6(ANKRD11):c.833C>T (p.Thr278Met)
NM_013275.6(ANKRD11):c.843C>T (p.Asn281=) rs912859980
NM_013275.6(ANKRD11):c.846C>T (p.Leu282=)
NM_013275.6(ANKRD11):c.867C>T (p.Tyr289=)
NM_013275.6(ANKRD11):c.876C>T (p.Ser292=)
NM_013275.6(ANKRD11):c.893-13C>T
NM_013275.6(ANKRD11):c.914C>T (p.Ala305Val)
NM_013296.5(GPSM2):c.1066G>A (p.Gly356Arg) rs61754640
NM_013296.5(GPSM2):c.1569TTC[1] (p.Ser525del) rs35029887
NM_013352.4(DSE):c.2619_2621del (p.Gly874del) rs111252008
NM_013432.5(TONSL):c.448+40G>A rs2242263
NM_014008.5(CCDC22):c.747= (p.Gln249=) rs2294020
NM_014140.4(SMARCAL1):c.1711-111G>T rs284550
NM_014140.4(SMARCAL1):c.1947C>T (p.Asp649=) rs2066526
NM_014140.4(SMARCAL1):c.2244+19T>C
NM_014140.4(SMARCAL1):c.340C>G (p.Arg114Gly) rs202031614
NM_014140.4(SMARCAL1):c.811+38del rs5838583
NM_014140.4(SMARCAL1):c.960C>T (p.Ala320=) rs2066513
NM_014140.4(SMARCAL1):c.961G>A (p.Gly321Ser) rs371378288
NM_014141.6(CNTNAP2):c.*1175TCTT[1] rs72035437
NM_014141.6(CNTNAP2):c.*175dup rs61125105
NM_014141.6(CNTNAP2):c.*2935_*2936del rs544152145
NM_014141.6(CNTNAP2):c.*3999dup rs35835723
NM_014141.6(CNTNAP2):c.*600CTGA[3] rs3058181
NM_014141.6(CNTNAP2):c.*916TAGTT[1] rs569195865
NM_014141.6(CNTNAP2):c.1566G>A (p.Gln522=) rs535454043
NM_014141.6(CNTNAP2):c.2356G>T (p.Val786Leu) rs138517537
NM_014141.6(CNTNAP2):c.2773+76del rs5888307
NM_014141.6(CNTNAP2):c.3476-9_3476-8del
NM_014141.6(CNTNAP2):c.3678C>T (p.Ser1226=) rs201219937
NM_014141.6(CNTNAP2):c.3716-17TCTT[3] rs142426153
NM_014141.6(CNTNAP2):c.3716-5_3716-4insGT rs60451214
NM_014141.6(CNTNAP2):c.3716-7_3716-6insTT rs72268642
NM_014141.6(CNTNAP2):c.551-8del rs370377093
NM_014141.6(CNTNAP2):c.551-8dup rs370377093
NM_014141.6(CNTNAP2):c.98-19_98-16del rs796052367
NM_014165.4(NDUFAF4):c.241-18dup rs34213186
NM_014233.4(UBTF):c.1365G>A (p.Lys455=)
NM_014233.4(UBTF):c.1501C>T (p.Leu501=)
NM_014233.4(UBTF):c.1836G>A (p.Lys612=)
NM_014233.4(UBTF):c.540-9C>G
NM_014243.3(ADAMTS3):c.69+31del rs5859330
NM_014244.5(ADAMTS2):c.1308G>A (p.Ala436=) rs41285549
NM_014244.5(ADAMTS2):c.1383-5dup
NM_014244.5(ADAMTS2):c.139+19dup
NM_014244.5(ADAMTS2):c.1630-46G>A rs34369919
NM_014244.5(ADAMTS2):c.1869C>T (p.Arg623=) rs376058580
NM_014244.5(ADAMTS2):c.1952-18del
NM_014244.5(ADAMTS2):c.2210-2del rs1219329381
NM_014244.5(ADAMTS2):c.2210-2dup
NM_014244.5(ADAMTS2):c.2617+9dup rs745450151
NM_014244.5(ADAMTS2):c.2750+12dup
NM_014244.5(ADAMTS2):c.2751-16dup
NM_014244.5(ADAMTS2):c.2958+14del rs755404765
NM_014244.5(ADAMTS2):c.47TGC[7] (p.Leu23del) rs568040559
NM_014244.5(ADAMTS2):c.47TGC[9] (p.Leu23dup) rs568040559
NM_014244.5(ADAMTS2):c.722G>A (p.Arg241His) rs11750821
NM_014244.5(ADAMTS2):c.80_100dup (p.Leu27_Pro33dup) rs1064794627
NM_014244.5(ADAMTS2):c.891+10del rs2113373949
NM_014264.5(PLK4):c.2490G>T (p.Glu830Asp) rs17012739
NM_014314.4(RIGI):c.1376-21dup rs71302893
NM_014314.4(RIGI):c.1481-21dup rs71504272
NM_014317.5(PDSS1):c.163-5del rs34296355
NM_014321.4(ORC6):c.360-13A>G rs797045853
NM_014391.3(ANKRD1):c.346-15_346-14del rs794728971
NM_014391.3(ANKRD1):c.346-17_346-10del rs397517250
NM_014391.3(ANKRD1):c.346-19_346-14del rs58762441
NM_014391.3(ANKRD1):c.346-29_346-12del rs72003210
NM_014402.5(UQCRQ):c.*723A>G rs17166297
NM_014423.4(AFF4):c.1051-17A>C rs55844143
NM_014423.4(AFF4):c.1087+12_1087+15del rs530898028
NM_014423.4(AFF4):c.1227-99del rs34333760
NM_014423.4(AFF4):c.123+20A>C
NM_014423.4(AFF4):c.124-5dup
NM_014423.4(AFF4):c.2007C>G (p.Pro669=)
NM_014423.4(AFF4):c.777C>T (p.Pro259=)
NM_014423.4(AFF4):c.918+11C>T
NM_014423.4(AFF4):c.963+12dup rs56817345
NM_014482.3(BMP10):c.599C>G (p.Thr200Ser)
NM_014495.4(ANGPTL3):c.776T>C (p.Met259Thr) rs77871363
NM_014704.4(CEP104):c.1083G>A (p.Pro361=) rs61740614
NM_014704.4(CEP104):c.1317+15_1317+16insAAC rs762038535
NM_014704.4(CEP104):c.1317+15_1317+16insC
NM_014704.4(CEP104):c.1636G>A (p.Val546Ile)
NM_014704.4(CEP104):c.2111G>A (p.Gly704Glu) rs139181137
NM_014704.4(CEP104):c.2504-14T>A
NM_014704.4(CEP104):c.2662+15C>T
NM_014704.4(CEP104):c.490G>T (p.Ala164Ser) rs140856596
NM_014704.4(CEP104):c.558G>A (p.Thr186=) rs2275822
NM_014754.3(PTDSS1):c.1312+12_1312+17del rs3830537
NM_014780.5(CUL7):c.4295-14C>A rs144154816
NM_014795.4(ZEB2):c.*4845del rs201661554
NM_014795.4(ZEB2):c.1204G>A (p.Val402Ile)
NM_014795.4(ZEB2):c.1238G>A (p.Ser413Asn)
NM_014795.4(ZEB2):c.1262G>C (p.Gly421Ala) rs2149877371
NM_014795.4(ZEB2):c.1291T>A (p.Ser431Thr) rs1267201464
NM_014795.4(ZEB2):c.1361A>T (p.Asn454Ile) rs1560607170
NM_014795.4(ZEB2):c.1410T>A (p.Thr470=) rs34890427
NM_014795.4(ZEB2):c.1446A>C (p.Glu482Asp) rs886043609
NM_014795.4(ZEB2):c.1447A>G (p.Ile483Val)
NM_014795.4(ZEB2):c.1491A>C (p.Gln497His) rs200378546
NM_014795.4(ZEB2):c.1534G>A (p.Gly512Ser) rs141781307
NM_014795.4(ZEB2):c.1534G>T (p.Gly512Cys) rs141781307
NM_014795.4(ZEB2):c.1564A>G (p.Thr522Ala)
NM_014795.4(ZEB2):c.1598T>C (p.Val533Ala)
NM_014795.4(ZEB2):c.1601A>T (p.Asn534Ile)
NM_014795.4(ZEB2):c.1637A>T (p.Asp546Val)
NM_014795.4(ZEB2):c.1688T>C (p.Ile563Thr)
NM_014795.4(ZEB2):c.1711A>G (p.Met571Val) rs2149877101
NM_014795.4(ZEB2):c.1713G>A (p.Met571Ile) rs1451965551
NM_014795.4(ZEB2):c.1727A>G (p.Asn576Ser) rs748955225
NM_014795.4(ZEB2):c.1869C>A (p.Asn623Lys)
NM_014795.4(ZEB2):c.1879G>A (p.Val627Ile) rs1703275164
NM_014795.4(ZEB2):c.1888G>A (p.Asp630Asn)
NM_014795.4(ZEB2):c.1897G>T (p.Ala633Ser) rs2149876991
NM_014795.4(ZEB2):c.193G>A (p.Val65Met) rs2149891224
NM_014795.4(ZEB2):c.1958A>G (p.Lys653Arg)
NM_014795.4(ZEB2):c.1966A>G (p.Met656Val)
NM_014795.4(ZEB2):c.1993A>G (p.Met665Val) rs1388932284
NM_014795.4(ZEB2):c.203A>G (p.His68Arg)
NM_014795.4(ZEB2):c.2119T>A (p.Ser707Thr) rs1244099058
NM_014795.4(ZEB2):c.2204C>T (p.Pro735Leu)
NM_014795.4(ZEB2):c.224G>A (p.Ser75Asn) rs1703745750
NM_014795.4(ZEB2):c.2255C>G (p.Thr752Arg) rs143438888
NM_014795.4(ZEB2):c.242G>C (p.Arg81Thr) rs1703745146
NM_014795.4(ZEB2):c.2471T>C (p.Met824Thr) rs1553961536
NM_014795.4(ZEB2):c.2486G>A (p.Ser829Asn) rs730881198
NM_014795.4(ZEB2):c.2494G>A (p.Ala832Thr) rs1573715635
NM_014795.4(ZEB2):c.2519G>A (p.Ser840Asn)
NM_014795.4(ZEB2):c.2537A>G (p.His846Arg)
NM_014795.4(ZEB2):c.2538T>A (p.His846Gln) rs557767273
NM_014795.4(ZEB2):c.2641A>C (p.Asn881His) rs794727922
NM_014795.4(ZEB2):c.2707G>A (p.Ala903Thr) rs730881200
NM_014795.4(ZEB2):c.2847G>A (p.Met949Ile) rs1703257497
NM_014795.4(ZEB2):c.2863T>C (p.Tyr955His)
NM_014795.4(ZEB2):c.2896C>T (p.Leu966Phe)
NM_014795.4(ZEB2):c.2951C>T (p.Ser984Phe) rs143474223
NM_014795.4(ZEB2):c.3067+6A>T rs143450927
NM_014795.4(ZEB2):c.3201G>A (p.Ser1067=) rs730881180
NM_014795.4(ZEB2):c.32G>A (p.Arg11Gln) rs1476193985
NM_014795.4(ZEB2):c.3327C>A (p.Asn1109Lys) rs1288140327
NM_014795.4(ZEB2):c.3535A>G (p.Ile1179Val) rs1360979536
NM_014795.4(ZEB2):c.3565T>C (p.Ser1189Pro)
NM_014795.4(ZEB2):c.3574G>T (p.Asp1192Tyr)
NM_014795.4(ZEB2):c.520A>G (p.Ile174Val)
NM_014795.4(ZEB2):c.582A>C (p.Gln194His) rs918109625
NM_014795.4(ZEB2):c.592+6G>A
NM_014795.4(ZEB2):c.593-18_593-17insTG rs776927209
NM_014795.4(ZEB2):c.593-27CT[5]
NM_014795.4(ZEB2):c.702C>T (p.His234=) rs140169964
NM_014795.4(ZEB2):c.74-27_74-20dup rs748573164
NM_014795.4(ZEB2):c.74-3C>T rs984545941
NM_014795.4(ZEB2):c.757C>A (p.Arg253Ser) rs760301787
NM_014795.4(ZEB2):c.807+3G>A rs144925893
NM_014795.4(ZEB2):c.807+3G>T rs144925893
NM_014795.4(ZEB2):c.807+8del rs1411186011
NM_014795.4(ZEB2):c.807+8dup rs1411186011
NM_014795.4(ZEB2):c.9G>A (p.Gln3=) rs149882004
NM_014795.4(ZEB2):c.9G>C (p.Gln3His) rs149882004
NM_014795.4:c.593-18_593-17insTG rs2149879288
NM_014804.3(KIAA0753):c.507T>C (p.Ser169=) rs2072149
NM_014822.4(SEC24D):c.1422-9dup rs71595318
NM_014822.4(SEC24D):c.2959-15dup rs140990828
NM_014822.4(SEC24D):c.483T>G (p.Pro161=) rs2389688
NM_014846.4(WASHC5):c.187-6dup rs745362878
NM_014846.4(WASHC5):c.2851-18del
NM_014846.4(WASHC5):c.333-19A>G rs2384916
NM_014846.4(WASHC5):c.333-19A>T
NM_014846.4(WASHC5):c.711+16A>G
NM_014846.4(WASHC5):c.720G>A (p.Ala240=) rs758215702
NM_014918.5(CHSY1):c.2202G>A (p.Thr734=)
NM_014918.5(CHSY1):c.2232C>T (p.His744=)
NM_014918.5(CHSY1):c.666G>A (p.Gly222=) rs74545602
NM_014918.5(CHSY1):c.817-11dup rs769105634
NM_015100.4(POGZ):c.1524-10T>G rs2274534
NM_015100.4(POGZ):c.1927-17del rs3831142
NM_015114.3(ANKLE2):c.1700+104G>C rs10781636
NM_015114.3(ANKLE2):c.1891+84G>A rs7969633
NM_015139.3(SLC35D1):c.244G>A (p.Ala82Thr) rs10157422
NM_015139.3(SLC35D1):c.393-3del rs199880356
NM_015139.3(SLC35D1):c.393-5del rs5774854
NM_015139.3(SLC35D1):c.393-5dup rs5774854
NM_015261.3(NCAPD3):c.1215+28G>A rs896409
NM_015272.5(RPGRIP1L):c.1029+19del
NM_015272.5(RPGRIP1L):c.1104-5dup rs2151199111
NM_015272.5(RPGRIP1L):c.1120C>T (p.His374Tyr) rs200773352
NM_015272.5(RPGRIP1L):c.123A>G (p.Ala41=) rs569208946
NM_015272.5(RPGRIP1L):c.206G>A (p.Arg69His) rs574091991
NM_015272.5(RPGRIP1L):c.230+13dup
NM_015272.5(RPGRIP1L):c.3010C>T (p.His1004Tyr) rs574430009
NM_015272.5(RPGRIP1L):c.3220+13T>C rs376659273
NM_015272.5(RPGRIP1L):c.3221-7dup
NM_015272.5(RPGRIP1L):c.3295-8del rs113083177
NM_015272.5(RPGRIP1L):c.3432+10dup
NM_015272.5(RPGRIP1L):c.3433-20dup
NM_015272.5(RPGRIP1L):c.3617-13del
NM_015272.5(RPGRIP1L):c.3617-13dup rs750499169
NM_015272.5(RPGRIP1L):c.530-3del rs1567882035
NM_015272.5(RPGRIP1L):c.632+16del rs559978421
NM_015272.5(RPGRIP1L):c.883-10dup
NM_015294.6(TRIM37):c.398C>T (p.Ala133Val) rs61758100
NM_015295.3(SMCHD1):c.174G>C (p.Ala58=) rs2430853
NM_015295.3(SMCHD1):c.5052+33dup rs3214732
NM_015311.3(OBSL1):c.-208G>C rs567328066
NM_015311.3(OBSL1):c.-43del rs747020402
NM_015311.3(OBSL1):c.2408-32T>A rs2303543
NM_015311.3(OBSL1):c.2730C>A (p.Ala910=) rs10804275
NM_015311.3(OBSL1):c.4067-11G>T rs1983211
NM_015311.3(OBSL1):c.5684-37TC[2] rs146790993
NM_015335.5(MED13L):c.107A>G (p.Asn36Ser)
NM_015335.5(MED13L):c.1128G>A (p.Met376Ile)
NM_015335.5(MED13L):c.1176-3T>C
NM_015335.5(MED13L):c.1192A>C (p.Thr398Pro)
NM_015335.5(MED13L):c.119A>G (p.His40Arg)
NM_015335.5(MED13L):c.1349G>T (p.Ser450Ile)
NM_015335.5(MED13L):c.1508C>T (p.Thr503Ile)
NM_015335.5(MED13L):c.1543T>G (p.Ser515Ala) rs777986630
NM_015335.5(MED13L):c.1589C>T (p.Ala530Val)
NM_015335.5(MED13L):c.1650C>G (p.Ser550=)
NM_015335.5(MED13L):c.166A>G (p.Ile56Val)
NM_015335.5(MED13L):c.1764A>G (p.Glu588=)
NM_015335.5(MED13L):c.1773G>A (p.Gln591=) rs3741768
NM_015335.5(MED13L):c.1803C>T (p.Leu601=)
NM_015335.5(MED13L):c.1839C>T (p.Ser613=)
NM_015335.5(MED13L):c.1853A>G (p.Tyr618Cys)
NM_015335.5(MED13L):c.2012+10CT[2] rs564143152
NM_015335.5(MED13L):c.2013-10del rs542425590
NM_015335.5(MED13L):c.2049G>T (p.Trp683Cys)
NM_015335.5(MED13L):c.2056A>G (p.Lys686Glu)
NM_015335.5(MED13L):c.211G>A (p.Val71Ile)
NM_015335.5(MED13L):c.2282A>G (p.His761Arg)
NM_015335.5(MED13L):c.2289G>T (p.Thr763=)
NM_015335.5(MED13L):c.2465T>G (p.Leu822Arg)
NM_015335.5(MED13L):c.2470-15A>G
NM_015335.5(MED13L):c.2470-20A>G
NM_015335.5(MED13L):c.2502G>A (p.Met834Ile)
NM_015335.5(MED13L):c.2570-17_2570-16del
NM_015335.5(MED13L):c.2705T>C (p.Met902Thr)
NM_015335.5(MED13L):c.2744T>C (p.Met915Thr)
NM_015335.5(MED13L):c.277A>G (p.Asn93Asp)
NM_015335.5(MED13L):c.2834T>C (p.Val945Ala)
NM_015335.5(MED13L):c.2845A>G (p.Met949Val)
NM_015335.5(MED13L):c.2868G>A (p.Leu956=)
NM_015335.5(MED13L):c.2932A>C (p.Ile978Leu)
NM_015335.5(MED13L):c.2936C>T (p.Pro979Leu)
NM_015335.5(MED13L):c.2997-11T>G
NM_015335.5(MED13L):c.2997-17G>A
NM_015335.5(MED13L):c.311-15dup
NM_015335.5(MED13L):c.3231C>T (p.Thr1077=)
NM_015335.5(MED13L):c.3265A>G (p.Thr1089Ala)
NM_015335.5(MED13L):c.3290C>T (p.Pro1097Leu)
NM_015335.5(MED13L):c.3291C>T (p.Pro1097=)
NM_015335.5(MED13L):c.3495T>C (p.Ser1165=)
NM_015335.5(MED13L):c.3578T>C (p.Ile1193Thr)
NM_015335.5(MED13L):c.3586G>A (p.Ala1196Thr)
NM_015335.5(MED13L):c.3590C>T (p.Ala1197Val)
NM_015335.5(MED13L):c.3598C>T (p.Arg1200Cys)
NM_015335.5(MED13L):c.3645C>T (p.Thr1215=)
NM_015335.5(MED13L):c.36G>A (p.Ala12=)
NM_015335.5(MED13L):c.3706C>A (p.Pro1236Thr)
NM_015335.5(MED13L):c.3743C>G (p.Ser1248Cys)
NM_015335.5(MED13L):c.3916T>C (p.Ser1306Pro)
NM_015335.5(MED13L):c.3954C>T (p.Leu1318=)
NM_015335.5(MED13L):c.4137G>A (p.Pro1379=)
NM_015335.5(MED13L):c.4277A>G (p.Glu1426Gly)
NM_015335.5(MED13L):c.4339-9T>C
NM_015335.5(MED13L):c.4520G>A (p.Arg1507His)
NM_015335.5(MED13L):c.4525C>T (p.His1509Tyr)
NM_015335.5(MED13L):c.4623G>A (p.Thr1541=)
NM_015335.5(MED13L):c.4626A>G (p.Pro1542=)
NM_015335.5(MED13L):c.4631A>G (p.Asn1544Ser)
NM_015335.5(MED13L):c.4660G>A (p.Ala1554Thr)
NM_015335.5(MED13L):c.4698G>A (p.Ser1566=)
NM_015335.5(MED13L):c.4766C>T (p.Ser1589Leu)
NM_015335.5(MED13L):c.4786A>G (p.Ile1596Val)
NM_015335.5(MED13L):c.4956-11TC[3]
NM_015335.5(MED13L):c.5016C>T (p.Ala1672=)
NM_015335.5(MED13L):c.5131C>G (p.Leu1711Val)
NM_015335.5(MED13L):c.5176-17dup rs138808854
NM_015335.5(MED13L):c.5211G>A (p.Lys1737=)
NM_015335.5(MED13L):c.5445G>A (p.Thr1815=)
NM_015335.5(MED13L):c.5481C>T (p.Phe1827=)
NM_015335.5(MED13L):c.5531C>G (p.Thr1844Ser)
NM_015335.5(MED13L):c.5697G>A (p.Gly1899=)
NM_015335.5(MED13L):c.5708G>A (p.Arg1903His)
NM_015335.5(MED13L):c.5773A>G (p.Ser1925Gly)
NM_015335.5(MED13L):c.5797C>T (p.Arg1933Trp)
NM_015335.5(MED13L):c.5902A>G (p.Met1968Val)
NM_015335.5(MED13L):c.593A>C (p.His198Pro) rs764593997
NM_015335.5(MED13L):c.6068-17del
NM_015335.5(MED13L):c.6108C>T (p.Asp2036=)
NM_015335.5(MED13L):c.6156C>T (p.Asn2052=)
NM_015335.5(MED13L):c.6311C>T (p.Ala2104Val) rs1177608611
NM_015335.5(MED13L):c.6387+4G>C
NM_015335.5(MED13L):c.6388-7dup rs753004245
NM_015335.5(MED13L):c.6441C>G (p.Ala2147=)
NM_015335.5(MED13L):c.6579C>T (p.Pro2193=)
NM_015335.5(MED13L):c.699T>C (p.Arg233=)
NM_015335.5(MED13L):c.73-10_73-9dup rs765651929
NM_015335.5(MED13L):c.758C>T (p.Ser253Leu)
NM_015335.5(MED13L):c.940A>G (p.Ser314Gly)
NM_015335.5(MED13L):c.993A>G (p.Pro331=) rs780190117
NM_015338.6(ASXL1):c.*90T>C rs2295763
NM_015338.6(ASXL1):c.1465C>G (p.Arg489Gly) rs142172134
NM_015338.6(ASXL1):c.2110G>A (p.Gly704Arg) rs151317625
NM_015338.6(ASXL1):c.2895AGG[1] (p.Gly967del) rs762939072
NM_015338.6(ASXL1):c.3965C>G (p.Pro1322Arg) rs141930107
NM_015338.6(ASXL1):c.57+19G>A rs200198574
NM_015443.4(KANSL1):c.1318G>A (p.Ala440Thr) rs1240185267
NM_015443.4(KANSL1):c.1423G>A (p.Ala475Thr) rs547462953
NM_015443.4(KANSL1):c.1432-19del
NM_015443.4(KANSL1):c.1454T>A (p.Val485Glu)
NM_015443.4(KANSL1):c.1460C>T (p.Pro487Leu)
NM_015443.4(KANSL1):c.1491A>G (p.Pro497=) rs17576165
NM_015443.4(KANSL1):c.1543G>C (p.Val515Leu) rs2078430687
NM_015443.4(KANSL1):c.1574= (p.Pro525=)
NM_015443.4(KANSL1):c.1633G>A (p.Val545Ile) rs771191709
NM_015443.4(KANSL1):c.1700C>G (p.Ala567Gly)
NM_015443.4(KANSL1):c.1859A>C (p.Asn620Thr) rs200979425
NM_015443.4(KANSL1):c.1861A>G (p.Ser621Gly)
NM_015443.4(KANSL1):c.1909G>A (p.Gly637Ser) rs752154509
NM_015443.4(KANSL1):c.1921A>G (p.Ile641Val) rs2146485410
NM_015443.4(KANSL1):c.2050A>G (p.Met684Val)
NM_015443.4(KANSL1):c.2204-17dup
NM_015443.4(KANSL1):c.2255A>G (p.Asp752Gly) rs2077238889
NM_015443.4(KANSL1):c.2275A>C (p.Met759Leu)
NM_015443.4(KANSL1):c.2287G>T (p.Val763Leu) rs781594360
NM_015443.4(KANSL1):c.2332G>C (p.Val778Leu) rs1472029797
NM_015443.4(KANSL1):c.2444A>G (p.His815Arg) rs2077222371
NM_015443.4(KANSL1):c.2450C>G (p.Pro817Arg) rs200086055
NM_015443.4(KANSL1):c.2493T>G (p.Asp831Glu) rs1457193430
NM_015443.4(KANSL1):c.2497C>T (p.Pro833Ser) rs2146357893
NM_015443.4(KANSL1):c.2504C>T (p.Pro835Leu)
NM_015443.4(KANSL1):c.2537C>T (p.Thr846Ile)
NM_015443.4(KANSL1):c.2541+18G>A rs12150090
NM_015443.4(KANSL1):c.2683C>G (p.Leu895Val) rs555819683
NM_015443.4(KANSL1):c.2710GAG[1] (p.Glu905del) rs551968687
NM_015443.4(KANSL1):c.3043A>G (p.Ser1015Gly)
NM_015443.4(KANSL1):c.3064A>G (p.Thr1022Ala) rs1269773544
NM_015443.4(KANSL1):c.3151G>A (p.Glu1051Lys)
NM_015443.4(KANSL1):c.3176G>A (p.Arg1059Gln)
NM_015443.4(KANSL1):c.3289G>C (p.Ala1097Pro) rs2077005160
NM_015443.4(KANSL1):c.494C>T (p.Ser165Leu) rs747586763
NM_015443.4(KANSL1):c.727C>T (p.Gln243Ter) rs142096969
NM_015443.4(KANSL1):c.985_986del (p.Leu329fs) rs281865473
NM_015450.3(POT1):c.1007-11del rs1304104982
NM_015450.3(POT1):c.1211G>T (p.Gly404Val) rs35536751
NM_015450.3(POT1):c.125-12del
NM_015450.3(POT1):c.1506-12del rs2116422381
NM_015450.3(POT1):c.1595-11del rs762511146
NM_015450.3(POT1):c.1595-11dup rs762511146
NM_015450.3(POT1):c.1793-11del
NM_015450.3(POT1):c.1793-11dup
NM_015450.3(POT1):c.1793-17del rs770069410
NM_015450.3(POT1):c.702+8_702+9delinsTG rs36069303
NM_015450.3(POT1):c.703-3del rs1584765789
NM_015559.3(SETBP1):c.*4753del rs10715988
NM_015559.3(SETBP1):c.691G>C (p.Val231Leu) rs11082414
NM_015631.6(TCTN3):c.211G>T (p.Val71Leu) rs138495428
NM_015634.4(KIFBP):c.196G>A (p.Gly66Ser) rs2255607
NM_015681.6(B9D1):c.63+19dup rs2152278724
NM_015713.4(RRM2B):c.-157G>A rs28927991
NM_015713.5(RRM2B):c.*1894dup rs150629554
NM_015713.5(RRM2B):c.*2675A>G rs3735720
NM_015713.5(RRM2B):c.*3489A>G rs540839717
NM_015909.4(NBAS):c.4797+29T>A rs1318102
NM_015909.4:c.5725-13_5725-12insATTA rs1553349519
NM_015937.6(PIGT):c.1485-12C>T
NM_015937.6(PIGT):c.33C>T (p.Val11=)
NM_015937.6(PIGT):c.594+36dup rs3092108
NM_015971.4(MRPS7):c.83+23C>G rs62085969
NM_015971.4(MRPS7):c.83+23_83+24del rs36039201
NM_016013.4(NDUFAF1):c.92G>T (p.Arg31Leu) rs3204853
NM_016030.6(TRAPPC12):c.1047+72_1047+73delinsCA
NM_016035.5(COQ4):c.149= (p.Gly50=) rs3003601
NM_016035.5(COQ4):c.149G>C (p.Gly50Ala) rs3003601
NM_016042.4(EXOSC3):c.*118G>T rs1059059
NM_016042.4(EXOSC3):c.810C>T (p.Ser270=)
NM_016042.4(EXOSC3):c.814T>C (p.Leu272=)
NM_016111.4(TELO2):c.2407+77A>T rs12927760
NM_016111.4(TELO2):c.933+11del rs11344586
NM_016204.4(GDF2):c.346+18A>G
NM_016277.5(RAB23):c.242-31ATTG[6] rs45542438
NM_016277.5(RAB23):c.399-15dup
NM_016277.5(RAB23):c.481+17G>A
NM_016284.5(CNOT1):c.4524G>A (p.Gln1508=) rs2151916522
NM_016343.4(CENPF):c.2101A>G (p.Met701Val) rs3795524
NM_016343.4(CENPF):c.2444G>A (p.Arg815His) rs3795522
NM_016343.4(CENPF):c.9318C>G (p.Asn3106Lys) rs7289
NM_016464.5(TMEM138):c.129-11dup
NM_016580.4(PCDH12):c.3528CAG[9] (p.Ser1179_Ser1181dup) rs5871792
NM_016653.3(MAP3K20):c.1592C>T (p.Ser531Leu) rs3769148
NM_016938.5(EFEMP2):c.1171-17del
NM_016938.5(EFEMP2):c.1171-17dup
NM_016938.5(EFEMP2):c.367+10del
NM_016938.5(EFEMP2):c.975-32C>T rs594689
NM_016955.4(SEPSECS):c.115-18dup rs34423002
NM_016955.4(SEPSECS):c.115-4del rs34423002
NM_017617.5(NOTCH1):c.1002G>A (p.Glu334=)
NM_017617.5(NOTCH1):c.1045A>C (p.Thr349Pro) rs200520088
NM_017617.5(NOTCH1):c.1078G>A (p.Glu360Lys)
NM_017617.5(NOTCH1):c.1105C>T (p.Leu369=)
NM_017617.5(NOTCH1):c.1119C>T (p.Asn373=)
NM_017617.5(NOTCH1):c.1156A>G (p.Asn386Asp)
NM_017617.5(NOTCH1):c.1196C>A (p.Thr399Asn)
NM_017617.5(NOTCH1):c.1239G>A (p.Val413=)
NM_017617.5(NOTCH1):c.1277C>T (p.Ala426Val)
NM_017617.5(NOTCH1):c.1284G>A (p.Lys428=) rs1466608110
NM_017617.5(NOTCH1):c.1347C>T (p.Cys449=)
NM_017617.5(NOTCH1):c.1350G>A (p.Glu450=)
NM_017617.5(NOTCH1):c.1353C>T (p.Ile451=)
NM_017617.5(NOTCH1):c.1441+11C>T rs376506127
NM_017617.5(NOTCH1):c.1453G>A (p.Val485Met)
NM_017617.5(NOTCH1):c.1472C>T (p.Thr491Ile)
NM_017617.5(NOTCH1):c.1483G>A (p.Ala495Thr)
NM_017617.5(NOTCH1):c.1567C>T (p.His523Tyr) rs572103199
NM_017617.5(NOTCH1):c.164C>T (p.Pro55Leu)
NM_017617.5(NOTCH1):c.167G>A (p.Arg56Gln)
NM_017617.5(NOTCH1):c.1701C>A (p.Ile567=) rs773932034
NM_017617.5(NOTCH1):c.1711G>A (p.Asp571Asn) rs373125283
NM_017617.5(NOTCH1):c.1715C>A (p.Pro572His)
NM_017617.5(NOTCH1):c.1719C>A (p.Asp573Glu) rs1002136018
NM_017617.5(NOTCH1):c.1746C>T (p.Asp582=)
NM_017617.5(NOTCH1):c.1753G>A (p.Ala585Thr) rs775217381
NM_017617.5(NOTCH1):c.1768C>T (p.Leu590Phe)
NM_017617.5(NOTCH1):c.178C>A (p.Pro60Thr)
NM_017617.5(NOTCH1):c.1854C>T (p.Cys618=)
NM_017617.5(NOTCH1):c.1978G>A (p.Asp660Asn) rs368996332
NM_017617.5(NOTCH1):c.2004G>A (p.Pro668=)
NM_017617.5(NOTCH1):c.2046T>C (p.Cys682=)
NM_017617.5(NOTCH1):c.2157G>A (p.Glu719=)
NM_017617.5(NOTCH1):c.2169C>T (p.Asn723=)
NM_017617.5(NOTCH1):c.2176G>A (p.Val726Ile)
NM_017617.5(NOTCH1):c.2227C>G (p.Pro743Ala)
NM_017617.5(NOTCH1):c.2328G>A (p.Val776=)
NM_017617.5(NOTCH1):c.2338C>T (p.Arg780Trp) rs756642176
NM_017617.5(NOTCH1):c.2359A>C (p.Asn787His)
NM_017617.5(NOTCH1):c.2369C>T (p.Thr790Ile)
NM_017617.5(NOTCH1):c.2387C>T (p.Ala796Val)
NM_017617.5(NOTCH1):c.2414C>T (p.Thr805Met)
NM_017617.5(NOTCH1):c.2424C>T (p.Asp808=)
NM_017617.5(NOTCH1):c.2427C>G (p.Asp809Glu)
NM_017617.5(NOTCH1):c.2447A>G (p.Asn816Ser)
NM_017617.5(NOTCH1):c.2467+17dup
NM_017617.5(NOTCH1):c.247G>A (p.Ala83Thr)
NM_017617.5(NOTCH1):c.2496G>T (p.Pro832=) rs61751551
NM_017617.5(NOTCH1):c.2526G>A (p.Gly842=)
NM_017617.5(NOTCH1):c.2587+19C>G rs577190264
NM_017617.5(NOTCH1):c.2595C>T (p.Thr865=)
NM_017617.5(NOTCH1):c.2619C>T (p.Cys873=)
NM_017617.5(NOTCH1):c.2740+13G>A
NM_017617.5(NOTCH1):c.2793C>T (p.Cys931=) rs557156741
NM_017617.5(NOTCH1):c.2841C>T (p.Asn947=)
NM_017617.5(NOTCH1):c.2854G>C (p.Asp952His)
NM_017617.5(NOTCH1):c.2902A>G (p.Thr968Ala)
NM_017617.5(NOTCH1):c.2931G>A (p.Gly977=)
NM_017617.5(NOTCH1):c.2952G>A (p.Thr984=)
NM_017617.5(NOTCH1):c.2970-7del rs34868738
NM_017617.5(NOTCH1):c.2994C>T (p.Cys998=)
NM_017617.5(NOTCH1):c.301C>A (p.Pro101Thr) rs746491686
NM_017617.5(NOTCH1):c.3060C>T (p.His1020=)
NM_017617.5(NOTCH1):c.329C>T (p.Pro110Leu)
NM_017617.5(NOTCH1):c.335G>T (p.Arg112Leu)
NM_017617.5(NOTCH1):c.3394C>T (p.Arg1132Cys)
NM_017617.5(NOTCH1):c.3417C>T (p.Gly1139=) rs753526994
NM_017617.5(NOTCH1):c.3465G>A (p.Gln1155=)
NM_017617.5(NOTCH1):c.352G>A (p.Asp118Asn) rs745590123
NM_017617.5(NOTCH1):c.3549G>T (p.Glu1183Asp)
NM_017617.5(NOTCH1):c.3579G>T (p.Gln1193His) rs61751544
NM_017617.5(NOTCH1):c.3643+16C>T
NM_017617.5(NOTCH1):c.3649C>T (p.His1217Tyr) rs1327576450
NM_017617.5(NOTCH1):c.3662A>G (p.Asn1221Ser)
NM_017617.5(NOTCH1):c.3677A>G (p.Asn1226Ser)
NM_017617.5(NOTCH1):c.3690C>T (p.Asp1230=)
NM_017617.5(NOTCH1):c.369G>A (p.Thr123=)
NM_017617.5(NOTCH1):c.3715T>G (p.Phe1239Val)
NM_017617.5(NOTCH1):c.3788G>T (p.Arg1263Leu)
NM_017617.5(NOTCH1):c.3814C>T (p.Leu1272=)
NM_017617.5(NOTCH1):c.383G>T (p.Arg128Leu)
NM_017617.5(NOTCH1):c.3852C>T (p.Cys1284=) rs377289044
NM_017617.5(NOTCH1):c.3901+11C>T
NM_017617.5(NOTCH1):c.3915G>A (p.Glu1305=) rs1554728133
NM_017617.5(NOTCH1):c.3919G>A (p.Val1307Ile)
NM_017617.5(NOTCH1):c.3970G>T (p.Val1324Leu) rs149057410
NM_017617.5(NOTCH1):c.3977C>T (p.Ser1326Phe)
NM_017617.5(NOTCH1):c.3984C>T (p.Thr1328=)
NM_017617.5(NOTCH1):c.3985G>A (p.Ala1329Thr) rs763098618
NM_017617.5(NOTCH1):c.4020C>T (p.Phe1340=)
NM_017617.5(NOTCH1):c.4021G>A (p.Glu1341Lys)
NM_017617.5(NOTCH1):c.4031C>G (p.Thr1344Arg) rs201215245
NM_017617.5(NOTCH1):c.4044C>T (p.Asp1348=)
NM_017617.5(NOTCH1):c.4096G>C (p.Gly1366Arg) rs778270588
NM_017617.5(NOTCH1):c.410C>T (p.Ser137Leu)
NM_017617.5(NOTCH1):c.4183A>G (p.Asn1395Asp)
NM_017617.5(NOTCH1):c.4221C>T (p.Ser1407=)
NM_017617.5(NOTCH1):c.4325C>T (p.Pro1442Leu)
NM_017617.5(NOTCH1):c.4332G>A (p.Leu1444=)
NM_017617.5(NOTCH1):c.4335C>G (p.Ile1445Met) rs373960609
NM_017617.5(NOTCH1):c.433G>A (p.Ala145Thr) rs1388726872
NM_017617.5(NOTCH1):c.4368G>A (p.Glu1456=)
NM_017617.5(NOTCH1):c.4446C>T (p.Asn1482=)
NM_017617.5(NOTCH1):c.4507G>A (p.Gly1503Ser)
NM_017617.5(NOTCH1):c.4587-10dup rs766780122
NM_017617.5(NOTCH1):c.4597G>A (p.Asp1533Asn)
NM_017617.5(NOTCH1):c.461A>G (p.Gln154Arg)
NM_017617.5(NOTCH1):c.4692T>C (p.His1564=)
NM_017617.5(NOTCH1):c.4753C>T (p.Leu1585=)
NM_017617.5(NOTCH1):c.478G>A (p.Ala160Thr)
NM_017617.5(NOTCH1):c.4797G>C (p.Val1599=)
NM_017617.5(NOTCH1):c.4836C>T (p.Gly1612=)
NM_017617.5(NOTCH1):c.4881C>T (p.Arg1627=)
NM_017617.5(NOTCH1):c.4890C>T (p.Pro1630=)
NM_017617.5(NOTCH1):c.4891A>G (p.Ile1631Val)
NM_017617.5(NOTCH1):c.4903G>A (p.Ala1635Thr)
NM_017617.5(NOTCH1):c.4926C>T (p.Asp1642=)
NM_017617.5(NOTCH1):c.4929C>A (p.Ala1643=)
NM_017617.5(NOTCH1):c.4938C>A (p.Gly1646=)
NM_017617.5(NOTCH1):c.4959C>T (p.Leu1653=)
NM_017617.5(NOTCH1):c.4964G>A (p.Gly1655Asp)
NM_017617.5(NOTCH1):c.4971C>G (p.Ser1657Arg) rs367838230
NM_017617.5(NOTCH1):c.4971C>T (p.Ser1657=) rs367838230
NM_017617.5(NOTCH1):c.4982G>A (p.Arg1661Gln)
NM_017617.5(NOTCH1):c.5019-13_5019-10del rs374419074
NM_017617.5(NOTCH1):c.5025C>T (p.Ile1675=)
NM_017617.5(NOTCH1):c.5136C>T (p.Leu1712=)
NM_017617.5(NOTCH1):c.513T>C (p.His171=)
NM_017617.5(NOTCH1):c.5205C>T (p.His1735=)
NM_017617.5(NOTCH1):c.5280C>T (p.Arg1760=)
NM_017617.5(NOTCH1):c.5342A>G (p.Lys1781Arg)
NM_017617.5(NOTCH1):c.5347C>A (p.Arg1783=)
NM_017617.5(NOTCH1):c.5415C>T (p.Leu1805=)
NM_017617.5(NOTCH1):c.5427C>T (p.Asn1809=)
NM_017617.5(NOTCH1):c.5438G>T (p.Trp1813Leu) rs755659037
NM_017617.5(NOTCH1):c.5444A>G (p.Asp1815Gly)
NM_017617.5(NOTCH1):c.5472+19G>C rs755674060
NM_017617.5(NOTCH1):c.5476G>A (p.Glu1826Lys) rs374103443
NM_017617.5(NOTCH1):c.555G>A (p.Lys185=)
NM_017617.5(NOTCH1):c.5605G>A (p.Ala1869Thr) rs200603539
NM_017617.5(NOTCH1):c.5607C>T (p.Ala1869=)
NM_017617.5(NOTCH1):c.5620G>A (p.Val1874Ile)
NM_017617.5(NOTCH1):c.569G>A (p.Arg190His) rs761616770
NM_017617.5(NOTCH1):c.5700C>T (p.Ser1900=)
NM_017617.5(NOTCH1):c.5829C>T (p.Ala1943=)
NM_017617.5(NOTCH1):c.5922A>G (p.Gln1974=) rs770803201
NM_017617.5(NOTCH1):c.592G>A (p.Glu198Lys)
NM_017617.5(NOTCH1):c.5961C>T (p.Asp1987=)
NM_017617.5(NOTCH1):c.5965G>A (p.Asp1989Asn) rs587777734
NM_017617.5(NOTCH1):c.6060C>T (p.Asp2020=)
NM_017617.5(NOTCH1):c.6066C>T (p.Asn2022=)
NM_017617.5(NOTCH1):c.6070G>A (p.Val2024Ile)
NM_017617.5(NOTCH1):c.6087G>A (p.Lys2029=)
NM_017617.5(NOTCH1):c.61+19G>A rs957002412
NM_017617.5(NOTCH1):c.613G>C (p.Val205Leu)
NM_017617.5(NOTCH1):c.620G>A (p.Arg207His) rs779118023
NM_017617.5(NOTCH1):c.6254C>T (p.Ala2085Val)
NM_017617.5(NOTCH1):c.6298A>G (p.Ile2100Val)
NM_017617.5(NOTCH1):c.6342C>T (p.Asp2114=)
NM_017617.5(NOTCH1):c.6368A>G (p.Gln2123Arg)
NM_017617.5(NOTCH1):c.6375C>G (p.His2125Gln) rs369009290
NM_017617.5(NOTCH1):c.6375C>T (p.His2125=) rs369009290
NM_017617.5(NOTCH1):c.6396G>C (p.Thr2132=) rs554843595
NM_017617.5(NOTCH1):c.6403C>T (p.Leu2135=)
NM_017617.5(NOTCH1):c.6430G>A (p.Gly2144Ser)
NM_017617.5(NOTCH1):c.6454G>A (p.Gly2152Ser) rs116317506
NM_017617.5(NOTCH1):c.6454G>C (p.Gly2152Arg) rs116317506
NM_017617.5(NOTCH1):c.6478A>G (p.Lys2160Glu)
NM_017617.5(NOTCH1):c.6535C>T (p.Arg2179Trp)
NM_017617.5(NOTCH1):c.6557G>T (p.Gly2186Val)
NM_017617.5(NOTCH1):c.6563G>T (p.Gly2188Val)
NM_017617.5(NOTCH1):c.658G>A (p.Val220Met) rs754236791
NM_017617.5(NOTCH1):c.6597C>G (p.Pro2199=) rs374640663
NM_017617.5(NOTCH1):c.65C>T (p.Pro22Leu)
NM_017617.5(NOTCH1):c.6681G>A (p.Pro2227=)
NM_017617.5(NOTCH1):c.6715G>A (p.Asp2239Asn)
NM_017617.5(NOTCH1):c.6735G>A (p.Gly2245=)
NM_017617.5(NOTCH1):c.6739C>G (p.Leu2247Val) rs377165086
NM_017617.5(NOTCH1):c.6747G>A (p.Val2249=) rs751544476
NM_017617.5(NOTCH1):c.6767C>T (p.Ala2256Val) rs759225800
NM_017617.5(NOTCH1):c.6771G>A (p.Ala2257=)
NM_017617.5(NOTCH1):c.6801G>A (p.Glu2267=)
NM_017617.5(NOTCH1):c.6864C>T (p.Ser2288=)
NM_017617.5(NOTCH1):c.6884A>G (p.Asn2295Ser)
NM_017617.5(NOTCH1):c.6925G>A (p.Glu2309Lys)
NM_017617.5(NOTCH1):c.6959C>T (p.Pro2320Leu)
NM_017617.5(NOTCH1):c.6983G>T (p.Gly2328Val)
NM_017617.5(NOTCH1):c.7000C>T (p.Pro2334Ser)
NM_017617.5(NOTCH1):c.7065T>C (p.Ala2355=)
NM_017617.5(NOTCH1):c.7120G>T (p.Ala2374Ser)
NM_017617.5(NOTCH1):c.7126C>A (p.Gln2376Lys) rs767497870
NM_017617.5(NOTCH1):c.7241C>T (p.Pro2414Leu)
NM_017617.5(NOTCH1):c.7261G>A (p.Val2421Met)
NM_017617.5(NOTCH1):c.7326C>T (p.Asp2442=)
NM_017617.5(NOTCH1):c.7355C>T (p.Ala2452Val)
NM_017617.5(NOTCH1):c.743-12del rs774029678
NM_017617.5(NOTCH1):c.7482G>A (p.Val2494=) rs1268405497
NM_017617.5(NOTCH1):c.7646G>A (p.Arg2549His)
NM_017617.5(NOTCH1):c.7652C>T (p.Pro2551Leu)
NM_017617.5(NOTCH1):c.804C>T (p.Asn268=) rs774222164
NM_017617.5(NOTCH1):c.855A>G (p.Pro285=)
NM_017617.5(NOTCH1):c.880G>A (p.Glu294Lys)
NM_017617.5(NOTCH1):c.891C>T (p.Asp297=)
NM_017617.5(NOTCH1):c.997A>C (p.Ser333Arg) rs895972070
NM_017633.3(TENT5A):c.72CGGCGACTTCGGCGG[5] (p.26DFGGG[5]) rs754008809
NM_017775.4(TTC19):c.312+43C>A rs758853
NM_017777.4(MKS1):c.1096-5del rs2143753890
NM_017777.4(MKS1):c.1588+10del
NM_017777.4(MKS1):c.52C>A (p.Arg18=) rs557896607
NM_017777.4(MKS1):c.645-13del
NM_017777.4(MKS1):c.915+19_915+21del rs3217067
NM_017780.4(CHD7):c.*127del rs11322994
NM_017780.4(CHD7):c.1011T>G (p.Asn337Lys)
NM_017780.4(CHD7):c.1032A>G (p.Val344=)
NM_017780.4(CHD7):c.106C>T (p.Pro36Ser)
NM_017780.4(CHD7):c.1079G>C (p.Gly360Ala)
NM_017780.4(CHD7):c.1095G>C (p.Gln365His)
NM_017780.4(CHD7):c.1117C>T (p.Leu373Phe)
NM_017780.4(CHD7):c.1172C>G (p.Ala391Gly)
NM_017780.4(CHD7):c.1180C>T (p.Pro394Ser)
NM_017780.4(CHD7):c.1186A>G (p.Met396Val)
NM_017780.4(CHD7):c.1195A>G (p.Met399Val)
NM_017780.4(CHD7):c.1204A>G (p.Met402Val)
NM_017780.4(CHD7):c.1247G>A (p.Gly416Glu)
NM_017780.4(CHD7):c.1285A>C (p.Asn429His) rs771200821
NM_017780.4(CHD7):c.1285A>G (p.Asn429Asp)
NM_017780.4(CHD7):c.1304C>T (p.Pro435Leu)
NM_017780.4(CHD7):c.1315C>G (p.Pro439Ala) rs772369092
NM_017780.4(CHD7):c.1321G>T (p.Gly441Cys)
NM_017780.4(CHD7):c.1337G>A (p.Gly446Glu)
NM_017780.4(CHD7):c.1376G>A (p.Arg459His)
NM_017780.4(CHD7):c.1405A>G (p.Arg469Gly) rs868107005
NM_017780.4(CHD7):c.1497A>G (p.Gln499=)
NM_017780.4(CHD7):c.1501C>T (p.His501Tyr)
NM_017780.4(CHD7):c.1509T>C (p.Gly503=)
NM_017780.4(CHD7):c.1555C>T (p.Pro519Ser)
NM_017780.4(CHD7):c.1570C>T (p.His524Tyr)
NM_017780.4(CHD7):c.1678G>A (p.Glu560Lys)
NM_017780.4(CHD7):c.1708A>G (p.Met570Val)
NM_017780.4(CHD7):c.1716G>C (p.Gln572His)
NM_017780.4(CHD7):c.1724G>C (p.Gly575Ala)
NM_017780.4(CHD7):c.1780C>T (p.Pro594Ser)
NM_017780.4(CHD7):c.18G>T (p.Met6Ile)
NM_017780.4(CHD7):c.2012C>T (p.Pro671Leu) rs370588681
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.2096+21dup rs111577577
NM_017780.4(CHD7):c.2097-19G>A rs559713378
NM_017780.4(CHD7):c.2182G>A (p.Asp728Asn)
NM_017780.4(CHD7):c.2183A>G (p.Asp728Gly) rs749679283
NM_017780.4(CHD7):c.2224G>A (p.Asp742Asn)
NM_017780.4(CHD7):c.2295C>G (p.Phe765Leu)
NM_017780.4(CHD7):c.2298G>T (p.Lys766Asn)
NM_017780.4(CHD7):c.2377-3dup rs752271550
NM_017780.4(CHD7):c.238A>T (p.Met80Leu)
NM_017780.4(CHD7):c.2662A>G (p.Met888Val)
NM_017780.4(CHD7):c.2670T>C (p.Phe890=)
NM_017780.4(CHD7):c.2835+18G>C rs143580627
NM_017780.4(CHD7):c.2848G>A (p.Ala950Thr)
NM_017780.4(CHD7):c.2916G>A (p.Gln972=)
NM_017780.4(CHD7):c.295G>A (p.Ala99Thr) rs779024959
NM_017780.4(CHD7):c.328G>A (p.Val110Ile)
NM_017780.4(CHD7):c.3423G>A (p.Val1141=)
NM_017780.4(CHD7):c.3600C>T (p.Pro1200=)
NM_017780.4(CHD7):c.3651T>C (p.Tyr1217=)
NM_017780.4(CHD7):c.3695G>A (p.Gly1232Asp)
NM_017780.4(CHD7):c.4101G>A (p.Arg1367=)
NM_017780.4(CHD7):c.425G>C (p.Ser142Thr)
NM_017780.4(CHD7):c.4324A>G (p.Met1442Val)
NM_017780.4(CHD7):c.447T>C (p.Ala149=)
NM_017780.4(CHD7):c.4515A>G (p.Lys1505=)
NM_017780.4(CHD7):c.4656T>C (p.Val1552=)
NM_017780.4(CHD7):c.4895G>A (p.Arg1632His)
NM_017780.4(CHD7):c.5039T>C (p.Val1680Ala) rs746011394
NM_017780.4(CHD7):c.5108C>T (p.Thr1703Ile) rs1236442873
NM_017780.4(CHD7):c.5114C>T (p.Pro1705Leu)
NM_017780.4(CHD7):c.5123A>G (p.Gln1708Arg)
NM_017780.4(CHD7):c.5181C>T (p.Tyr1727=)
NM_017780.4(CHD7):c.525G>A (p.Ser175=)
NM_017780.4(CHD7):c.5269G>A (p.Ala1757Thr)
NM_017780.4(CHD7):c.5272G>A (p.Asp1758Asn)
NM_017780.4(CHD7):c.5291C>T (p.Ala1764Val)
NM_017780.4(CHD7):c.530C>G (p.Pro177Arg)
NM_017780.4(CHD7):c.532C>G (p.Pro178Ala) rs766416900
NM_017780.4(CHD7):c.542G>A (p.Gly181Asp)
NM_017780.4(CHD7):c.546C>T (p.His182=)
NM_017780.4(CHD7):c.555C>A (p.His185Gln)
NM_017780.4(CHD7):c.5568A>G (p.Glu1856=)
NM_017780.4(CHD7):c.5637G>A (p.Lys1879=)
NM_017780.4(CHD7):c.5666-13dup
NM_017780.4(CHD7):c.5796G>A (p.Glu1932=)
NM_017780.4(CHD7):c.5825G>A (p.Arg1942Gln)
NM_017780.4(CHD7):c.5827C>T (p.Arg1943Trp)
NM_017780.4(CHD7):c.5856A>T (p.Glu1952Asp)
NM_017780.4(CHD7):c.5888G>A (p.Arg1963Gln)
NM_017780.4(CHD7):c.5985C>T (p.Asn1995=)
NM_017780.4(CHD7):c.6135G>T (p.Pro2045=) rs6999971
NM_017780.4(CHD7):c.6196G>C (p.Glu2066Gln)
NM_017780.4(CHD7):c.6261G>A (p.Leu2087=)
NM_017780.4(CHD7):c.630G>A (p.Met210Ile)
NM_017780.4(CHD7):c.6373T>C (p.Leu2125=)
NM_017780.4(CHD7):c.6384T>G (p.His2128Gln)
NM_017780.4(CHD7):c.6392T>G (p.Phe2131Cys)
NM_017780.4(CHD7):c.6419C>T (p.Thr2140Ile)
NM_017780.4(CHD7):c.6439G>A (p.Ala2147Thr)
NM_017780.4(CHD7):c.6446G>A (p.Gly2149Glu)
NM_017780.4(CHD7):c.6475T>C (p.Ser2159Pro)
NM_017780.4(CHD7):c.6485T>C (p.Ile2162Thr)
NM_017780.4(CHD7):c.6514G>A (p.Glu2172Lys)
NM_017780.4(CHD7):c.6521A>G (p.Lys2174Arg)
NM_017780.4(CHD7):c.6570A>G (p.Lys2190=)
NM_017780.4(CHD7):c.6653T>C (p.Leu2218Pro)
NM_017780.4(CHD7):c.6672C>T (p.Gly2224=)
NM_017780.4(CHD7):c.6681T>G (p.Thr2227=)
NM_017780.4(CHD7):c.6692C>G (p.Ser2231Cys) rs554415600
NM_017780.4(CHD7):c.6732G>A (p.Lys2244=)
NM_017780.4(CHD7):c.6744C>A (p.Asp2248Glu)
NM_017780.4(CHD7):c.6744C>T (p.Asp2248=)
NM_017780.4(CHD7):c.6766C>G (p.Gln2256Glu)
NM_017780.4(CHD7):c.685A>C (p.Thr229Pro) rs767816305
NM_017780.4(CHD7):c.6913T>C (p.Phe2305Leu)
NM_017780.4(CHD7):c.6918C>G (p.Ala2306=)
NM_017780.4(CHD7):c.6921C>T (p.Phe2307=)
NM_017780.4(CHD7):c.6924G>A (p.Ser2308=) rs61733338
NM_017780.4(CHD7):c.6981G>T (p.Val2327=)
NM_017780.4(CHD7):c.7083G>T (p.Arg2361Ser)
NM_017780.4(CHD7):c.7090G>T (p.Ala2364Ser)
NM_017780.4(CHD7):c.7097T>C (p.Leu2366Pro) rs541818422
NM_017780.4(CHD7):c.7107C>A (p.Val2369=) rs773674773
NM_017780.4(CHD7):c.7108G>A (p.Gly2370Ser) rs185940313
NM_017780.4(CHD7):c.7128G>A (p.Gly2376=)
NM_017780.4(CHD7):c.715C>T (p.Pro239Ser)
NM_017780.4(CHD7):c.7193G>A (p.Arg2398His)
NM_017780.4(CHD7):c.7250G>T (p.Arg2417Met)
NM_017780.4(CHD7):c.7313A>G (p.Gln2438Arg)
NM_017780.4(CHD7):c.7357A>G (p.Ser2453Gly)
NM_017780.4(CHD7):c.7363A>G (p.Thr2455Ala)
NM_017780.4(CHD7):c.7429G>T (p.Ala2477Ser)
NM_017780.4(CHD7):c.7444A>G (p.Met2482Val)
NM_017780.4(CHD7):c.7446G>A (p.Met2482Ile)
NM_017780.4(CHD7):c.7471C>T (p.Arg2491Cys)
NM_017780.4(CHD7):c.747G>A (p.Leu249=)
NM_017780.4(CHD7):c.749G>A (p.Arg250His)
NM_017780.4(CHD7):c.7518G>A (p.Glu2506=)
NM_017780.4(CHD7):c.7592G>A (p.Arg2531Gln)
NM_017780.4(CHD7):c.7669A>G (p.Ile2557Val)
NM_017780.4(CHD7):c.7683A>G (p.Gly2561=)
NM_017780.4(CHD7):c.770A>G (p.His257Arg)
NM_017780.4(CHD7):c.7714A>G (p.Ile2572Val)
NM_017780.4(CHD7):c.7797T>A (p.Pro2599=)
NM_017780.4(CHD7):c.7849T>C (p.Phe2617Leu)
NM_017780.4(CHD7):c.784A>G (p.Thr262Ala)
NM_017780.4(CHD7):c.7959A>C (p.Arg2653=)
NM_017780.4(CHD7):c.7993C>G (p.Pro2665Ala)
NM_017780.4(CHD7):c.7G>A (p.Asp3Asn)
NM_017780.4(CHD7):c.8004T>G (p.Asp2668Glu)
NM_017780.4(CHD7):c.8013G>A (p.Arg2671=)
NM_017780.4(CHD7):c.8093C>T (p.Ser2698Leu)
NM_017780.4(CHD7):c.8094G>A (p.Ser2698=)
NM_017780.4(CHD7):c.8105G>A (p.Arg2702His) rs1563673267
NM_017780.4(CHD7):c.8175C>T (p.Ile2725=)
NM_017780.4(CHD7):c.8176G>A (p.Ala2726Thr)
NM_017780.4(CHD7):c.8189C>A (p.Ala2730Glu) rs779381935
NM_017780.4(CHD7):c.8189C>T (p.Ala2730Val) rs779381935
NM_017780.4(CHD7):c.8308G>A (p.Ala2770Thr)
NM_017780.4(CHD7):c.830C>T (p.Pro277Leu)
NM_017780.4(CHD7):c.8310A>G (p.Ala2770=)
NM_017780.4(CHD7):c.8320G>A (p.Gly2774Ser)
NM_017780.4(CHD7):c.8359G>A (p.Gly2787Ser)
NM_017780.4(CHD7):c.8362G>A (p.Asp2788Asn)
NM_017780.4(CHD7):c.8421C>T (p.Pro2807=)
NM_017780.4(CHD7):c.8436G>T (p.Leu2812Phe) rs755563758
NM_017780.4(CHD7):c.8474G>T (p.Gly2825Val)
NM_017780.4(CHD7):c.8477A>G (p.Asn2826Ser) rs370129047
NM_017780.4(CHD7):c.8554G>A (p.Asp2852Asn)
NM_017780.4(CHD7):c.8571T>C (p.Ser2857=)
NM_017780.4(CHD7):c.8609C>T (p.Ala2870Val)
NM_017780.4(CHD7):c.8656A>G (p.Asn2886Asp)
NM_017780.4(CHD7):c.8672A>C (p.Asn2891Thr) rs202039728
NM_017780.4(CHD7):c.8700G>A (p.Pro2900=)
NM_017780.4(CHD7):c.8796C>G (p.Gly2932=)
NM_017780.4(CHD7):c.8836C>T (p.Pro2946Ser)
NM_017780.4(CHD7):c.8842A>G (p.Lys2948Glu) rs1467824778
NM_017780.4(CHD7):c.8920G>A (p.Glu2974Lys)
NM_017780.4(CHD7):c.8948C>T (p.Ser2983Leu)
NM_017780.4(CHD7):c.8955T>G (p.Asp2985Glu)
NM_017780.4(CHD7):c.972C>A (p.Asn324Lys)
NM_017791.3(FLVCR2):c.-121CT[1] rs1322268460
NM_017791.3(FLVCR2):c.543G>A (p.Val181=) rs2287016
NM_017799.4(TMEM260):c.345-32A>G rs10782433
NM_017827.4(SARS2):c.393+112dup rs59946162
NM_017837.4(PIGV):c.-333C>T rs118069986
NM_017934.7(PHIP):c.1988T>G (p.Val663Gly) rs7747479
NM_017934.7(PHIP):c.4236T>A (p.Ala1412=) rs2275291
NM_018006.5(TRMU):c.*43T>G rs113302712
NM_018006.5(TRMU):c.567C>G (p.Ile189Met) rs192537315
NM_018010.4(IFT57):c.375+17C>G rs1289754
NM_018026.4(PACS1):c.1067G>A (p.Arg356His)
NM_018026.4(PACS1):c.1199+10C>G rs199906288
NM_018026.4(PACS1):c.1199+11dup
NM_018026.4(PACS1):c.1199+3G>A
NM_018026.4(PACS1):c.1216A>T (p.Met406Leu)
NM_018026.4(PACS1):c.1218G>A (p.Met406Ile)
NM_018026.4(PACS1):c.1238C>T (p.Thr413Met)
NM_018026.4(PACS1):c.1286C>A (p.Thr429Asn) rs760985201
NM_018026.4(PACS1):c.1325C>G (p.Ser442Cys)
NM_018026.4(PACS1):c.1408A>G (p.Ser470Gly)
NM_018026.4(PACS1):c.1423G>C (p.Val475Leu)
NM_018026.4(PACS1):c.1463C>T (p.Thr488Met)
NM_018026.4(PACS1):c.1517G>A (p.Arg506Gln)
NM_018026.4(PACS1):c.1523A>G (p.Lys508Arg)
NM_018026.4(PACS1):c.1534C>T (p.Pro512Ser)
NM_018026.4(PACS1):c.1613G>C (p.Gly538Ala)
NM_018026.4(PACS1):c.1626+4C>A
NM_018026.4(PACS1):c.1804G>A (p.Val602Met)
NM_018026.4(PACS1):c.1910C>T (p.Ser637Phe)
NM_018026.4(PACS1):c.2045G>T (p.Ser682Ile)
NM_018026.4(PACS1):c.2108A>T (p.Gln703Leu)
NM_018026.4(PACS1):c.2133G>A (p.Met711Ile)
NM_018026.4(PACS1):c.2144A>G (p.Asn715Ser)
NM_018026.4(PACS1):c.2283C>T (p.Pro761=)
NM_018026.4(PACS1):c.2336C>T (p.Ser779Phe)
NM_018026.4(PACS1):c.2353A>G (p.Ser785Gly)
NM_018026.4(PACS1):c.2369G>A (p.Arg790Gln) rs1855762487
NM_018026.4(PACS1):c.2374G>A (p.Ala792Thr)
NM_018026.4(PACS1):c.2383A>C (p.Thr795Pro)
NM_018026.4(PACS1):c.2450G>C (p.Gly817Ala) rs1855812873
NM_018026.4(PACS1):c.2455G>A (p.Val819Met)
NM_018026.4(PACS1):c.2494G>A (p.Gly832Arg)
NM_018026.4(PACS1):c.2528C>T (p.Ala843Val)
NM_018026.4(PACS1):c.2656+22del
NM_018026.4(PACS1):c.2698G>A (p.Val900Met)
NM_018026.4(PACS1):c.2749G>A (p.Ala917Thr)
NM_018026.4(PACS1):c.385G>C (p.Val129Leu)
NM_018026.4(PACS1):c.424G>A (p.Val142Ile) rs2134674046
NM_018026.4(PACS1):c.445-15T>C rs182977545
NM_018026.4(PACS1):c.534+3G>A rs2134698969
NM_018026.4(PACS1):c.535-12del
NM_018026.4(PACS1):c.661-5C>G rs79265330
NM_018026.4(PACS1):c.676A>C (p.Asn226His) rs1175983246
NM_018026.4(PACS1):c.731C>G (p.Pro244Arg)
NM_018026.4(PACS1):c.794C>G (p.Ser265Cys)
NM_018026.4(PACS1):c.897+16C>T
NM_018026.4(PACS1):c.897+9C>G rs184374266
NM_018026.4(PACS1):c.926G>A (p.Arg309Gln)
NM_018055.5(NODAL):c.*356G>A rs556853359
NM_018060.4(IARS2):c.268-8del rs376359534
NM_018062.4(FANCL):c.1020+14del
NM_018062.4(FANCL):c.1020+8dup
NM_018062.4(FANCL):c.216+13del rs1558823075
NM_018062.4(FANCL):c.273+19dup rs372101290
NM_018062.4(FANCL):c.541-6dup rs746526500
NM_018062.4(FANCL):c.694AAT[1] (p.Asn233del) rs549637282
NM_018062.4(FANCL):c.776-10del rs374236117
NM_018062.4(FANCL):c.776-10dup rs374236117
NM_018062.4(FANCL):c.776-11_776-10dup rs374236117
NM_018062.4(FANCL):c.822-15dup rs570217357
NM_018062.4(FANCL):c.93T>C (p.Ala31=) rs563039004
NM_018082.6(POLR3B):c.1102-3dup rs202125845
NM_018082.6(POLR3B):c.1102-4_1102-3dup rs202125845
NM_018082.6(POLR3B):c.72+184_72+188del rs139244819
NM_018122.5(DARS2):c.127+94ATT[10] rs55949406
NM_018122.5(DARS2):c.228-10del rs374122386
NM_018122.5(DARS2):c.228-12C>G rs9425753
NM_018127.7(ELAC2):c.1305-6dup rs200410915
NM_018127.7(ELAC2):c.1305-8_1305-7insTCTC rs201830045
NM_018127.7(ELAC2):c.1305-8delinsCTCTC rs1064794813
NM_018127.7(ELAC2):c.1424-6del rs2040589080
NM_018127.7(ELAC2):c.1424-6dup
NM_018127.7(ELAC2):c.1560A>G (p.Thr520=) rs11545302
NM_018127.7(ELAC2):c.1699-8dup rs878855049
NM_018127.7(ELAC2):c.1808+26G>C rs2286338
NM_018127.7(ELAC2):c.1809-5del
NM_018127.7(ELAC2):c.1908+8del
NM_018127.7(ELAC2):c.797+14del rs748817791
NM_018136.5(ASPM):c.3742-3dup rs587783236
NM_018136.5(ASPM):c.7674C>A (p.Ile2558=) rs41308365
NM_018136.5(ASPM):c.7674C>T (p.Ile2558=) rs41308365
NM_018136.5(ASPM):c.9395T>G (p.Leu3132Arg) rs36004306
NM_018161.5(NADSYN1):c.612A>C (p.Gln204His) rs7950441
NM_018238.4(AGK):c.1046+13G>C
NM_018238.4(AGK):c.142-10del
NM_018238.4(AGK):c.424-3del
NM_018238.4(AGK):c.424-3dup rs201762775
NM_018238.4(AGK):c.424-4C>A rs113085050
NM_018238.4(AGK):c.424-4C>G rs113085050
NM_018238.4(AGK):c.424-5C>T rs113599212
NM_018238.4(AGK):c.669-6del
NM_018238.4(AGK):c.975+16dup
NM_018292.5(QRSL1):c.557+49_557+50del rs3040665
NM_018451.5(CPAP):c.3704-14_3704-12del rs34991318
NM_018451.5(CPAP):c.61A>G (p.Met21Val) rs35498994
NM_018451.5(CPAP):c.61A>T (p.Met21Leu) rs35498994
NM_018475.5(TMEM165):c.208-5del rs770787680
NM_018475.5(TMEM165):c.208-5dup rs770787680
NM_018486.3(HDAC8):c.1006-4A>G
NM_018486.3(HDAC8):c.112-17del rs3830710
NM_018486.3(HDAC8):c.112-18_112-17dup
NM_018486.3(HDAC8):c.112-29dup rs3830710
NM_018486.3(HDAC8):c.11C>T (p.Pro4Leu)
NM_018486.3(HDAC8):c.12G>A (p.Pro4=)
NM_018486.3(HDAC8):c.166A>G (p.Ile56Val)
NM_018486.3(HDAC8):c.20C>A (p.Pro7Gln)
NM_018486.3(HDAC8):c.474T>C (p.Ala158=)
NM_018486.3(HDAC8):c.669G>T (p.Arg223=)
NM_018486.3(HDAC8):c.911-5G>C
NM_018486.3(HDAC8):c.9_17dup (p.Pro7_Ala8insGluGluPro)
NM_018699.4(PRDM5):c.1031-6dup rs35363618
NM_018714.3(COG1):c.1782G>A (p.Glu594=) rs1037256
NM_018714.3(COG1):c.2221-14_2221-13del rs374132938
NM_018714.3(COG1):c.2619+17dup
NM_018718.3(CEP41):c.*3526dup rs3839655
NM_018718.3(CEP41):c.278-15A>T rs142452124
NM_018718.3(CEP41):c.575-14del rs144531086
NM_018718.3(CEP41):c.758-14dup rs1156468685
NM_019023.5(PRMT7):c.1650+27A>C rs1868159
NM_019892.6(INPP5E):c.1034+8G>A rs201272028
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTAGAGG rs71269007
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1159+7_1159+8insGGTGGGCGTGGCTGGAGGGGTGGGCGCGGCTGGAGG rs71269007
NM_019892.6(INPP5E):c.1160-9del rs756109971
NM_019892.6(INPP5E):c.1521C>T (p.His507=) rs10870188
NM_019892.6(INPP5E):c.1549+17del rs761489335
NM_019892.6(INPP5E):c.1549+17dup
NM_019892.6(INPP5E):c.1743G>A (p.Thr581=) rs368026621
NM_019892.6(INPP5E):c.1791G>A (p.Pro597=) rs10870182
NM_019892.6(INPP5E):c.1791G>C (p.Pro597=) rs10870182
NM_019892.6(INPP5E):c.1897C>G (p.Gln633Glu)
NM_019892.6(INPP5E):c.812+7_812+10del rs5901103
NM_020223.4(FAM20C):c.1506-55G>A rs36156024
NM_020223.4(FAM20C):c.1690A>G (p.Asn564Asp) rs36139924
NM_020223.4(FAM20C):c.953_956+30dup rs771282640
NM_020247.4(COQ8A):c.*807_*808insT rs3215920
NM_020247.5(COQ8A):c.1256+32del rs3215919
NM_020247.5(COQ8A):c.1257-56G>T rs1574185
NM_020247.5(COQ8A):c.1440C>T (p.Phe480=) rs12593
NM_020247.5(COQ8A):c.940-52C>G rs2297413
NM_020297.4(ABCC9):c.1011+100dup rs3835048
NM_020297.4(ABCC9):c.2769+28A>C rs2307024
NM_020312.4(COQ9):c.79C>G (p.Arg27Gly) rs140264612
NM_020320.5(RARS2):c.726A>G (p.Gln242=) rs145499324
NM_020335.3(VANGL2):c.403C>T (p.Arg135Trp)
NM_020436.5(SALL4):c.1512C>T (p.Pro504=)
NM_020436.5(SALL4):c.1779G>T (p.Pro593=) rs147254025
NM_020436.5(SALL4):c.2051ATG[2] (p.Asp686del) rs557068877
NM_020436.5(SALL4):c.2742+16C>T
NM_020436.5(SALL4):c.3105C>T (p.Gly1035=)
NM_020436.5(SALL4):c.339A>G (p.Glu113=)
NM_020436.5(SALL4):c.762C>T (p.Ala254=) rs141546409
NM_020442.6(VARS2):c.574-42_574-35del rs57637932
NM_020458.4(TTC7A):c.1026C>T (p.Ile342=) rs151317740
NM_020458.4(TTC7A):c.1641+12G>C rs11885389
NM_020458.4(TTC7A):c.1919+11G>C rs149412946
NM_020458.4(TTC7A):c.2018-19G>T rs143365344
NM_020458.4(TTC7A):c.437G>A (p.Arg146Gln) rs61746139
NM_020458.4(TTC7A):c.437G>T (p.Arg146Leu) rs61746139
NM_020458.4(TTC7A):c.563G>T (p.Arg188Leu) rs147471840
NM_020458.4(TTC7A):c.94C>G (p.Leu32Val) rs144050892
NM_020461.4(TUBGCP6):c.4317C>A (p.Ser1439=) rs79022493
NM_020461.4(TUBGCP6):c.4861G>C (p.Val1621Leu) rs4838864
NM_020529.3(NFKBIA):c.*78GAA[1] rs145753299
NM_020529.3(NFKBIA):c.140A>G (p.Lys47Arg) rs1594427886
NM_020529.3(NFKBIA):c.151G>A (p.Glu51Lys)
NM_020529.3(NFKBIA):c.221G>C (p.Gly74Ala) rs763076696
NM_020529.3(NFKBIA):c.336+20C>A rs754935304
NM_020529.3(NFKBIA):c.509C>G (p.Pro170Arg)
NM_020529.3(NFKBIA):c.532G>A (p.Ala178Thr)
NM_020529.3(NFKBIA):c.577C>A (p.His193Asn) rs2052742904
NM_020529.3(NFKBIA):c.636+16_636+17delinsTT
NM_020529.3(NFKBIA):c.907-11del
NM_020529.3(NFKBIA):c.907-15del
NM_020529.3(NFKBIA):c.907-15dup rs775742609
NM_020533.3(MCOLN1):c.1077C>T (p.Val359=) rs200417975
NM_020533.3(MCOLN1):c.1706+40G>A rs686796
NM_020533.3(MCOLN1):c.406-38G>A rs45513896
NM_020533.3(MCOLN1):c.571+13G>A
NM_020533.3(MCOLN1):c.771C>A (p.Ser257Arg) rs113261161
NM_020533.3(MCOLN1):c.777+12del rs563339019
NM_020533.3(MCOLN1):c.777+12dup rs563339019
NM_020533.3(MCOLN1):c.778-5dup
NM_020639.3(RIPK4):c.*215G>C rs115041500
NM_020639.3(RIPK4):c.630G>C (p.Ala210=) rs2838114
NM_020699.4(GATAD2B):c.443C>A (p.Ala148Glu)
NM_020699.4(GATAD2B):c.729+10C>G rs753734177
NM_020745.4(AARS2):c.*1284del rs35562884
NM_020745.4(AARS2):c.*1473G>T rs116579451
NM_020745.4(AARS2):c.*1635_*1636insAA rs34687863
NM_020745.4(AARS2):c.*1710G>T rs1056093
NM_020745.4(AARS2):c.*555_*556insATAAA rs111990690
NM_020745.4(AARS2):c.*633_*634insGGTATGGGTGCCCT rs112092257
NM_020745.4(AARS2):c.1041-29A>G rs7740535
NM_020745.4(AARS2):c.2255+35C>A rs325002
NM_020745.4(AARS2):c.2793+86_2793+87insCAGA rs10627820
NM_020751.3(COG6):c.1693-4del rs66629036
NM_020751.3(COG6):c.28G>A (p.Ala10Thr) rs3812882
NM_020751.3(COG6):c.369+23dup
NM_020751.3(COG6):c.624-3dup rs397756552
NM_020751.3(COG6):c.855C>T (p.Leu285=) rs544831978
NM_020771.4(HACE1):c.2443-5_2443-3del rs72218235
NM_020771.4(HACE1):c.77-17_77-16insTC rs10635352
NM_020779.4(WDR35):c.*978A>G rs149444449
NM_020779.4(WDR35):c.1058G>C (p.Arg353Pro) rs76623454
NM_020779.4(WDR35):c.1846-11dup rs754138477
NM_020779.4(WDR35):c.24+17dup
NM_020779.4(WDR35):c.2622A>T (p.Pro874=)
NM_020779.4(WDR35):c.308-17dup
NM_020806.5(GPHN):c.127G>T (p.Val43Leu) rs117256383
NM_020806.5(GPHN):c.1293+16del rs780721725
NM_020806.5(GPHN):c.1797T>C (p.Asp599=) rs41285476
NM_020806.5(GPHN):c.1911-9_1911-8dup rs757111014
NM_020806.5(GPHN):c.2080-14A>G rs56264248
NM_020806.5(GPHN):c.2080-14A>T rs56264248
NM_020806.5(GPHN):c.828+18del
NM_020937.4(FANCM):c.1397-15TA[6] rs112326758
NM_020937.4(FANCM):c.1397-15TA[8] rs112326758
NM_020937.4(FANCM):c.4387-16del
NM_020937.4(FANCM):c.4515+14del rs747887646
NM_020937.4(FANCM):c.4516-5_4516-2del rs796584585
NM_020937.4(FANCM):c.682-7del rs759364320
NM_020937.4(FANCM):c.682-7dup rs759364320
NM_020937.4(FANCM):c.876G>T (p.Pro292=) rs150757891
NM_020964.3(EPG5):c.1498-17del rs2050838482
NM_020964.3(EPG5):c.1944-16C>T rs575676819
NM_020964.3(EPG5):c.2245C>G (p.Gln749Glu)
NM_020964.3(EPG5):c.2413-15del rs1197236398
NM_020964.3(EPG5):c.2413-7del
NM_020964.3(EPG5):c.2413-7dup
NM_020964.3(EPG5):c.2719-12del
NM_020964.3(EPG5):c.33C>G (p.Ala11=) rs539082493
NM_020964.3(EPG5):c.3551G>A (p.Cys1184Tyr)
NM_020964.3(EPG5):c.3817-5del
NM_020964.3(EPG5):c.3984-9dup rs1448453433
NM_020964.3(EPG5):c.4646+20C>T rs191567436
NM_020964.3(EPG5):c.5544C>T (p.Pro1848=) rs578073131
NM_020964.3(EPG5):c.5584G>A (p.Ala1862Thr) rs34977955
NM_020964.3(EPG5):c.6226-8dup
NM_020964.3(EPG5):c.63+14C>A rs757703100
NM_020964.3(EPG5):c.63+15del rs11301517
NM_020964.3(EPG5):c.64-3del
NM_020964.3(EPG5):c.6622-23dup rs11333207
NM_020964.3(EPG5):c.6622-7del rs11333207
NM_020964.3(EPG5):c.6622-9_6622-7del rs11333207
NM_020975.6(RET):c.*1046G>C rs143948954
NM_020975.6(RET):c.*492G>C rs568766449
NM_020975.6(RET):c.-160G>T rs567112195
NM_020975.6(RET):c.1264-4del
NM_020975.6(RET):c.1264-4dup rs1814685980
NM_020975.6(RET):c.1523-7C>T rs567967877
NM_020975.6(RET):c.2284+54C>A rs566375223
NM_020975.6(RET):c.2285-16C>T rs781027098
NM_020975.6(RET):c.2393-14C>T rs144269978
NM_020975.6(RET):c.2393-16del
NM_020975.6(RET):c.2523G>A (p.Pro841=) rs56195026
NM_020975.6(RET):c.2608-8C>T
NM_020975.6(RET):c.2765C>A (p.Ser922Tyr) rs377767432
NM_020975.6(RET):c.2939+10dup
NM_020975.6(RET):c.487C>A (p.Arg163=) rs371153966
NM_020975.6(RET):c.73+9385_73+9395del rs368137511
NM_020975.6(RET):c.74-50G>T rs766786245
NM_021005.4(NR2F2):c.970+12_970+16dup rs563165104
NM_021044.4(DHH):c.25C>G (p.Pro9Ala)
NM_021044.4(DHH):c.303+16C>G
NM_021074.5(NDUFV2):c.301-3del rs759348789
NM_021252.5(RAB18):c.260-43_260-42del rs72201756
NM_021625.5(TRPV4):c.1825-15C>G rs200602134
NM_021625.5(TRPV4):c.1825-15C>T rs200602134
NM_021625.5(TRPV4):c.760G>A (p.Val254Met) rs143548402
NM_021830.5(TWNK):c.2045G>A (p.Arg682His) rs182559752
NM_021922.3(FANCE):c.1378C>G (p.Arg460Gly) rs200535245
NM_021922.3(FANCE):c.1383+20dup rs770300367
NM_021922.3(FANCE):c.387A>C (p.Pro129=) rs4713867
NM_021922.3(FANCE):c.733GGA[1] (p.Gly246del) rs45451605
NM_021922.3(FANCE):c.901-3del
NM_021926.4(ALX4):c.*1532G>A rs373805569
NM_021926.4(ALX4):c.*3081C>T rs139681611
NM_021926.4(ALX4):c.*3405G>A rs7115841
NM_021926.4(ALX4):c.*944G>T rs188954464
NM_021939.4(FKBP10):c.1256+17dup rs55720039
NM_021939.4(FKBP10):c.21C>T (p.Pro7=) rs781985978
NM_021939.4(FKBP10):c.363C>T (p.Pro121=) rs782356839
NM_021939.4(FKBP10):c.906C>A (p.Leu302=) rs1597907695
NM_021939.4(FKBP10):c.99C>A (p.Arg33=) rs1597902330
NM_022095.4(ZNF335):c.3670-16dup rs201440041
NM_022095.4(ZNF335):c.3820-7_3820-6del rs150750750
NM_022095.4(ZNF335):c.815-3del rs551678383
NM_022114.4(PRDM16):c.2391C>T (p.Ser797=) rs370931714
NM_022114.4(PRDM16):c.2448C>T (p.Asn816=) rs372189819
NM_022114.4(PRDM16):c.2468G>A (p.Arg823His) rs371654192
NM_022114.4(PRDM16):c.2468G>C (p.Arg823Pro) rs371654192
NM_022114.4(PRDM16):c.2815C>G (p.Leu939Val) rs150022595
NM_022114.4(PRDM16):c.2940-36G>T rs41303861
NM_022114.4(PRDM16):c.3024C>T (p.Phe1008=) rs538095343
NM_022114.4(PRDM16):c.3109+12G>A rs200643126
NM_022114.4(PRDM16):c.3109+12G>C rs200643126
NM_022114.4(PRDM16):c.438+19C>G rs369171650
NM_022114.4(PRDM16):c.438+19C>T rs369171650
NM_022114.4(PRDM16):c.677-16_677-11dup rs138423019
NM_022114.4(PRDM16):c.884+39_884+69del rs765185537
NM_022166.4(XYLT1):c.1086+44G>A rs11075341
NM_022166.4(XYLT1):c.1284C>G (p.Pro428=) rs28709752
NM_022166.4(XYLT1):c.1588-28_1588-3dup rs545474455
NM_022166.4(XYLT1):c.2028-16G>C
NM_022166.4(XYLT1):c.2331T>C (p.Asn777=) rs7201590
NM_022166.4(XYLT1):c.2631C>T (p.Pro877=) rs34511974
NM_022166.4(XYLT1):c.366T>C (p.Asp122=)
NM_022166.4(XYLT1):c.402+18C>T rs111904908
NM_022166.4(XYLT1):c.630G>A (p.Gly210=)
NM_022166.4(XYLT1):c.913+15del rs2141757493
NM_022167.4(XYLT2):c.914G>C (p.Arg305Thr) rs12451299
NM_022168.4(IFIH1):c.1096-19del
NM_022168.4(IFIH1):c.1096-4del rs1453617092
NM_022168.4(IFIH1):c.1491G>C (p.Thr497=) rs12479043
NM_022168.4(IFIH1):c.1524+18G>A
NM_022168.4(IFIH1):c.1589del (p.Asn530fs) rs779192156
NM_022168.4(IFIH1):c.1642-3del
NM_022168.4(IFIH1):c.1764dup (p.Ala589fs) rs553669430
NM_022168.4(IFIH1):c.1766-6del rs548261817
NM_022168.4(IFIH1):c.2035_2036del (p.Leu679fs) rs774076578
NM_022168.4(IFIH1):c.653C>T (p.Pro218Leu) rs539777490
NM_022168.4(IFIH1):c.770-10del
NM_022168.4(IFIH1):c.875-11A>C rs186664431
NM_022168.4(IFIH1):c.936A>G (p.Gln312=)
NM_022336.4(EDAR):c.*2141T>C rs566201941
NM_022336.4(EDAR):c.1024+16del rs3833574
NM_022336.4(EDAR):c.1024+16dup
NM_022336.4(EDAR):c.1105G>C (p.Ala369Pro)
NM_022336.4(EDAR):c.357-18C>G
NM_022336.4(EDAR):c.442+14T>C
NM_022336.4(EDAR):c.822C>A (p.Ser274=) rs79648056
NM_022356.4(P3H1):c.1915-21dup
NM_022356.4(P3H1):c.2055+13C>G rs76628300
NM_022356.4(P3H1):c.2148= (p.Gly716=) rs4660662
NM_022356.4(P3H1):c.618+10dup
NM_022356.4(P3H1):c.618+9_618+10del
NM_022356.4(P3H1):c.618+9_618+10dup rs760593141
NM_022369.4(STRA6):c.1167-18C>T
NM_022369.4(STRA6):c.1365G>C (p.Met455Ile)
NM_022369.4(STRA6):c.1418+10del rs377631858
NM_022369.4(STRA6):c.1605C>A (p.Leu535=) rs141004067
NM_022369.4(STRA6):c.1685-15G>A rs151148422
NM_022369.4(STRA6):c.431-16T>C
NM_022369.4(STRA6):c.794A>T (p.His265Leu)
NM_022370.4(ROBO3):c.2328G>A (p.Ala776=) rs200052922
NM_022370.4(ROBO3):c.4094GGAGTC[1] (p.1363RS[2]) rs56085444
NM_022370.4(ROBO3):c.488-14A>C rs11219820
NM_022455.5(NSD1):c.*4611del rs60995782
NM_022455.5(NSD1):c.1237-90del rs11322143
NM_022455.5(NSD1):c.1811G>T (p.Arg604Leu) rs61744451
NM_022455.5(NSD1):c.4162G>A (p.Glu1388Lys) rs1581408218
NM_022455.5(NSD1):c.4473G>A (p.Ser1491=) rs150920473
NM_022455.5(NSD1):c.4498-10del rs200890017
NM_022455.5(NSD1):c.4564G>A (p.Asp1522Asn) rs201483724
NM_022455.5(NSD1):c.4966+96dup rs373383515
NM_022455.5(NSD1):c.5781C>G (p.Ala1927=) rs61749654
NM_022458.4(LMBR1):c.*136dup rs146572018
NM_022458.4(LMBR1):c.*2198C>G rs116037533
NM_022458.4(LMBR1):c.*2992dup rs71838136
NM_022458.4(LMBR1):c.-183GCT[1] rs370780340
NM_022458.4(LMBR1):c.1095C>T (p.Gly365=) rs60299355
NM_022458.4(LMBR1):c.424-218dup rs200856353
NM_022458.4(LMBR1):c.528C>G (p.Ala176=) rs138255184
NM_022552.5(DNMT3A):c.1015-3del
NM_022662.4(ANAPC1):c.685+25A>G rs6742515
NM_022725.4(FANCF):c.-10C>T rs3740615
NM_022916.6(VPS33A):c.1165-82GT[19] rs57522920
NM_023110.3(FGFR1):c.*1052C>T rs17176088
NM_023110.3(FGFR1):c.*1982A>C rs536000259
NM_023110.3(FGFR1):c.*494A>G rs562843836
NM_023110.3(FGFR1):c.136C>T (p.His46Tyr)
NM_023110.3(FGFR1):c.1430+7_1430+9del rs772340109
NM_023110.3(FGFR1):c.194A>G (p.Asn65Ser)
NM_023110.3(FGFR1):c.221C>T (p.Ala74Val)
NM_023110.3(FGFR1):c.454G>A (p.Ala152Thr) rs1033377277
NM_024009.3(GJB3):c.-141C>G rs113824402
NM_024009.3(GJB3):c.479G>A (p.Arg160His) rs200055020
NM_024120.5(NDUFAF5):c.222+8_222+15del rs3831170
NM_024120.5(NDUFAF5):c.222+9GCGGGGCG[5] rs749228752
NM_024312.5(GNPTAB):c.-157C>A rs140600142
NM_024312.5(GNPTAB):c.-62GGC[7] rs76300806
NM_024312.5(GNPTAB):c.1113+19del
NM_024312.5(GNPTAB):c.1114-14GTT[2] rs758859457
NM_024312.5(GNPTAB):c.1114-19dup
NM_024312.5(GNPTAB):c.1114-20_1114-19del
NM_024312.5(GNPTAB):c.1155A>C (p.Ser385=) rs754258764
NM_024312.5(GNPTAB):c.118-12dup
NM_024312.5(GNPTAB):c.1613-25del rs546802775
NM_024312.5(GNPTAB):c.203+14del rs755771895
NM_024312.5(GNPTAB):c.27G>A (p.Gln9=) rs222504
NM_024312.5(GNPTAB):c.323+11dup rs546617430
NM_024312.5(GNPTAB):c.323+15_323+16insG
NM_024312.5(GNPTAB):c.323+20del rs546617430
NM_024312.5(GNPTAB):c.771+7A>C rs375495503
NM_024312.5(GNPTAB):c.934-10dup rs2137124351
NM_024407.5(NDUFS7):c.*13C>A rs11551663
NM_024408.4(NOTCH2):c.15C>T (p.Arg5=) rs4021006
NM_024426.6(WT1):c.*1049del rs568803808
NM_024426.6(WT1):c.*1239T>A rs534396876
NM_024426.6(WT1):c.*345G>A rs5030318
NM_024426.6(WT1):c.*864T>A rs5030323
NM_024426.6(WT1):c.*864T>G rs5030323
NM_024426.6(WT1):c.*978dup rs5030326
NM_024426.6(WT1):c.1017-12T>G
NM_024426.6(WT1):c.1017-20dup
NM_024426.6(WT1):c.1122A>C (p.Arg374=) rs16754
NM_024426.6(WT1):c.1265-52G>T rs869312745
NM_024426.6(WT1):c.1448-10G>A rs185744719
NM_024426.6(WT1):c.543C>T (p.Arg181=) rs369870529
NM_024426.6(WT1):c.695G>C (p.Ser232Thr) rs761913397
NM_024426.6(WT1):c.888-8dup
NM_024537.4(CARS2):c.1417-57dup rs11414164
NM_024537.4(CARS2):c.394-13A>C rs575543110
NM_024537.4(CARS2):c.572-3_572-2del rs201758363
NM_024537.4(CARS2):c.920-8del rs2139748776
NM_024599.5(RHBDF2):c.*742A>C rs7221225
NM_024665.7(TBL1XR1):c.1123-14del
NM_024665.7(TBL1XR1):c.1417-12dup rs753561692
NM_024665.7(TBL1XR1):c.1417-16_1417-15dup rs753561692
NM_024665.7(TBL1XR1):c.1428A>G (p.Leu476=) rs544818049
NM_024665.7(TBL1XR1):c.1519-21_1519-18del rs777937343
NM_024665.7(TBL1XR1):c.561-5dup
NM_024665.7(TBL1XR1):c.59-3dup
NM_024665.7(TBL1XR1):c.703-10del
NM_024665.7(TBL1XR1):c.865-20del rs1376809747
NM_024665.7(TBL1XR1):c.865-9del
NM_024757.5(EHMT1):c.1036A>T (p.Met346Leu) rs1343474221
NM_024757.5(EHMT1):c.1053C>G (p.Asp351Glu) rs779549255
NM_024757.5(EHMT1):c.1053C>T (p.Asp351=)
NM_024757.5(EHMT1):c.1065G>T (p.Glu355Asp)
NM_024757.5(EHMT1):c.1069G>A (p.Glu357Lys)
NM_024757.5(EHMT1):c.1080C>T (p.Asp360=)
NM_024757.5(EHMT1):c.1089_1090inv (p.Ala364Thr)
NM_024757.5(EHMT1):c.108A>C (p.Glu36Asp) rs1221520708
NM_024757.5(EHMT1):c.1102G>A (p.Ala368Thr)
NM_024757.5(EHMT1):c.110G>A (p.Gly37Asp) rs1300327079
NM_024757.5(EHMT1):c.1125C>G (p.Ser375Arg) rs2136064301
NM_024757.5(EHMT1):c.1166A>G (p.Gln389Arg)
NM_024757.5(EHMT1):c.1179G>A (p.Gly393=)
NM_024757.5(EHMT1):c.1185C>T (p.Ser395=)
NM_024757.5(EHMT1):c.1196A>G (p.Gln399Arg)
NM_024757.5(EHMT1):c.1210A>G (p.Thr404Ala) rs2136190497
NM_024757.5(EHMT1):c.123A>G (p.Lys41=)
NM_024757.5(EHMT1):c.123A>T (p.Lys41Asn)
NM_024757.5(EHMT1):c.1275A>G (p.Lys425=)
NM_024757.5(EHMT1):c.127G>C (p.Ala43Pro)
NM_024757.5(EHMT1):c.1286G>A (p.Arg429Lys) rs1949204312
NM_024757.5(EHMT1):c.128C>T (p.Ala43Val) rs79514677
NM_024757.5(EHMT1):c.1296G>C (p.Lys432Asn)
NM_024757.5(EHMT1):c.12C>G (p.Ala4=)
NM_024757.5(EHMT1):c.1366C>T (p.Leu456Phe)
NM_024757.5(EHMT1):c.1372T>C (p.Ser458Pro)
NM_024757.5(EHMT1):c.1393G>A (p.Ala465Thr) rs2136273568
NM_024757.5(EHMT1):c.13G>T (p.Asp5Tyr)
NM_024757.5(EHMT1):c.1401C>T (p.Ser467=)
NM_024757.5(EHMT1):c.1468C>G (p.Arg490Gly) rs1588553447
NM_024757.5(EHMT1):c.149C>G (p.Ala50Gly) rs143155406
NM_024757.5(EHMT1):c.1525C>G (p.Leu509Val)
NM_024757.5(EHMT1):c.1544A>C (p.Gln515Pro)
NM_024757.5(EHMT1):c.1613A>G (p.Asn538Ser) rs1588581251
NM_024757.5(EHMT1):c.1635C>T (p.Ser545=)
NM_024757.5(EHMT1):c.1652G>T (p.Gly551Val)
NM_024757.5(EHMT1):c.1691G>A (p.Arg564His) rs1303979081
NM_024757.5(EHMT1):c.176A>G (p.Glu59Gly) rs1422691901
NM_024757.5(EHMT1):c.180C>A (p.Asn60Lys)
NM_024757.5(EHMT1):c.1858C>A (p.Arg620=) rs137852718
NM_024757.5(EHMT1):c.1878T>C (p.Tyr626=)
NM_024757.5(EHMT1):c.188C>G (p.Ala63Gly) rs138292762
NM_024757.5(EHMT1):c.1896G>T (p.Glu632Asp)
NM_024757.5(EHMT1):c.1951G>C (p.Val651Leu)
NM_024757.5(EHMT1):c.1956A>G (p.Thr652=)
NM_024757.5(EHMT1):c.2074G>T (p.Val692Leu) rs770534271
NM_024757.5(EHMT1):c.2080G>A (p.Glu694Lys) rs1229220724
NM_024757.5(EHMT1):c.2085C>G (p.Gly695=)
NM_024757.5(EHMT1):c.21+13del
NM_024757.5(EHMT1):c.21+18C>T rs896972883
NM_024757.5(EHMT1):c.21+24del
NM_024757.5(EHMT1):c.21+24dup
NM_024757.5(EHMT1):c.21+5G>C
NM_024757.5(EHMT1):c.2102C>T (p.Pro701Leu)
NM_024757.5(EHMT1):c.2110C>T (p.Leu704Phe) rs866512456
NM_024757.5(EHMT1):c.2134T>C (p.Ser712Pro)
NM_024757.5(EHMT1):c.2159T>G (p.Leu720Trp)
NM_024757.5(EHMT1):c.215A>G (p.His72Arg) rs748754036
NM_024757.5(EHMT1):c.229G>A (p.Ala77Thr) rs768764806
NM_024757.5(EHMT1):c.234G>C (p.Arg78Ser) rs1054853293
NM_024757.5(EHMT1):c.2377G>C (p.Val793Leu) rs764584215
NM_024757.5(EHMT1):c.2382+3G>A rs976828902
NM_024757.5(EHMT1):c.2557G>A (p.Glu853Lys) rs1267450776
NM_024757.5(EHMT1):c.2592G>A (p.Met864Ile) rs2137313555
NM_024757.5(EHMT1):c.2607+6del
NM_024757.5(EHMT1):c.2619C>T (p.Gly873=)
NM_024757.5(EHMT1):c.2652G>A (p.Lys884=)
NM_024757.5(EHMT1):c.266C>G (p.Thr89Ser) rs1945360380
NM_024757.5(EHMT1):c.2772C>T (p.Ile924=)
NM_024757.5(EHMT1):c.2792A>C (p.Asp931Ala)
NM_024757.5(EHMT1):c.2795T>C (p.Leu932Pro)
NM_024757.5(EHMT1):c.2823G>A (p.Ser941=)
NM_024757.5(EHMT1):c.2857G>A (p.Asp953Asn)
NM_024757.5(EHMT1):c.2904G>A (p.Lys968=)
NM_024757.5(EHMT1):c.2967G>A (p.Leu989=)
NM_024757.5(EHMT1):c.3011G>T (p.Ser1004Ile) rs138283222
NM_024757.5(EHMT1):c.3043G>T (p.Ala1015Ser) rs764291502
NM_024757.5(EHMT1):c.3059G>T (p.Arg1020Leu)
NM_024757.5(EHMT1):c.3156C>T (p.Ile1052=)
NM_024757.5(EHMT1):c.3175C>G (p.Leu1059Val)
NM_024757.5(EHMT1):c.3180+10G>A rs113676865
NM_024757.5(EHMT1):c.3180+10G>T rs113676865
NM_024757.5(EHMT1):c.3181-10C>G rs1954761233
NM_024757.5(EHMT1):c.3196G>A (p.Asp1066Asn)
NM_024757.5(EHMT1):c.3206C>T (p.Ser1069Phe)
NM_024757.5(EHMT1):c.3219C>T (p.Cys1073=)
NM_024757.5(EHMT1):c.3284A>G (p.Asn1095Ser)
NM_024757.5(EHMT1):c.3356T>C (p.Val1119Ala) rs897615767
NM_024757.5(EHMT1):c.3357C>T (p.Val1119=)
NM_024757.5(EHMT1):c.336C>G (p.Asp112Glu) rs757250849
NM_024757.5(EHMT1):c.3375-15CT[2] rs112664025
NM_024757.5(EHMT1):c.3392A>G (p.Tyr1131Cys) rs753933684
NM_024757.5(EHMT1):c.3484G>A (p.Asp1162Asn) rs2132809230
NM_024757.5(EHMT1):c.350C>G (p.Thr117Ser) rs374844911
NM_024757.5(EHMT1):c.3541-13TC[3] rs10667884
NM_024757.5(EHMT1):c.3555C>T (p.Tyr1185=) rs398124407
NM_024757.5(EHMT1):c.3595A>G (p.Ile1199Val) rs2133152660
NM_024757.5(EHMT1):c.35G>A (p.Arg12Lys) rs777999570
NM_024757.5(EHMT1):c.35G>T (p.Arg12Met) rs777999570
NM_024757.5(EHMT1):c.3613C>T (p.Pro1205Ser)
NM_024757.5(EHMT1):c.3716+14del
NM_024757.5(EHMT1):c.3738C>T (p.Phe1246=)
NM_024757.5(EHMT1):c.3783C>A (p.Pro1261=)
NM_024757.5(EHMT1):c.3786G>A (p.Lys1262=)
NM_024757.5(EHMT1):c.3852C>T (p.Asp1284=)
NM_024757.5(EHMT1):c.3892C>G (p.Leu1298Val) rs768498317
NM_024757.5(EHMT1):c.390G>A (p.Pro130=) rs144323841
NM_024757.5(EHMT1):c.410T>G (p.Leu137Trp)
NM_024757.5(EHMT1):c.411G>A (p.Leu137=)
NM_024757.5(EHMT1):c.422G>A (p.Ser141Asn) rs1294932309
NM_024757.5(EHMT1):c.425C>T (p.Thr142Ile)
NM_024757.5(EHMT1):c.42G>A (p.Glu14=)
NM_024757.5(EHMT1):c.42G>C (p.Glu14Asp) rs370545724
NM_024757.5(EHMT1):c.432C>T (p.Ala144=) rs139461232
NM_024757.5(EHMT1):c.496A>G (p.Ser166Gly)
NM_024757.5(EHMT1):c.498C>G (p.Ser166Arg)
NM_024757.5(EHMT1):c.505C>G (p.Pro169Ala) rs770718072
NM_024757.5(EHMT1):c.520G>T (p.Ala174Ser) rs145055789
NM_024757.5(EHMT1):c.530C>T (p.Ala177Val)
NM_024757.5(EHMT1):c.573C>T (p.Leu191=)
NM_024757.5(EHMT1):c.578C>G (p.Ala193Gly)
NM_024757.5(EHMT1):c.619A>G (p.Met207Val)
NM_024757.5(EHMT1):c.623C>T (p.Pro208Leu)
NM_024757.5(EHMT1):c.629C>G (p.Ser210Cys)
NM_024757.5(EHMT1):c.634G>A (p.Val212Met) rs1445870595
NM_024757.5(EHMT1):c.689A>G (p.His230Arg) rs1946813486
NM_024757.5(EHMT1):c.744G>C (p.Gln248His)
NM_024757.5(EHMT1):c.750A>C (p.Leu250Phe)
NM_024757.5(EHMT1):c.799A>C (p.Met267Leu) rs139268115
NM_024757.5(EHMT1):c.804C>T (p.Ala268=)
NM_024757.5(EHMT1):c.823G>A (p.Ala275Thr)
NM_024757.5(EHMT1):c.82G>C (p.Glu28Gln) rs1342402816
NM_024757.5(EHMT1):c.85+6G>A rs1288957401
NM_024757.5(EHMT1):c.931A>C (p.Thr311Pro)
NM_024757.5(EHMT1):c.945G>A (p.Met315Ile)
NM_024757.5(EHMT1):c.954C>T (p.Ser318=)
NM_024757.5(EHMT1):c.982-9G>A rs368418026
NM_024809.5(TCTN2):c.*330_*331insACTC rs56918215
NM_024809.5(TCTN2):c.1506-17G>A
NM_024996.7(GFM1):c.1519-25A>G rs7628497
NM_025074.7(FRAS1):c.*2824_*2825insTTTT rs397724155
NM_025074.7(FRAS1):c.*518dup rs397752464
NM_025074.7(FRAS1):c.*731C>G rs116483248
NM_025074.7(FRAS1):c.*808C>T rs59820455
NM_025074.7(FRAS1):c.-257G>T rs78363185
NM_025074.7(FRAS1):c.10648+25del rs397994139
NM_025074.7(FRAS1):c.11445+68_11445+69del rs3062747
NM_025074.7(FRAS1):c.2060A>G (p.Asp687Gly) rs345513
NM_025074.7(FRAS1):c.2313G>T (p.Pro771=) rs396790
NM_025074.7(FRAS1):c.380C>G (p.Pro127Arg) rs147709711
NM_025114.4(CEP290):c.181-10del rs1302625844
NM_025114.4(CEP290):c.181-10dup
NM_025114.4(CEP290):c.1825-17CT[2] rs367600498
NM_025114.4(CEP290):c.2052+15dup
NM_025114.4(CEP290):c.2090C>G (p.Ala697Gly) rs200454865
NM_025114.4(CEP290):c.2218-13dup rs143621850
NM_025114.4(CEP290):c.2218-5del rs143621850
NM_025114.4(CEP290):c.2268= (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.2268A>G (p.Ser756=) rs2468255
NM_025114.4(CEP290):c.2484-18GTTTT[4] rs745522483
NM_025114.4(CEP290):c.2484-3dup
NM_025114.4(CEP290):c.2484-9del rs1189055838
NM_025114.4(CEP290):c.251-11del rs752284551
NM_025114.4(CEP290):c.251-19dup rs752284551
NM_025114.4(CEP290):c.3574-10_3574-9del
NM_025114.4(CEP290):c.3574-16dup rs10717563
NM_025114.4(CEP290):c.3574-9del rs10717563
NM_025114.4(CEP290):c.4087C>T (p.Arg1363Trp) rs181121175
NM_025114.4(CEP290):c.4195-3del
NM_025114.4(CEP290):c.4195-3dup
NM_025114.4(CEP290):c.441+17_441+18del
NM_025114.4(CEP290):c.441+18del
NM_025114.4(CEP290):c.441+18dup
NM_025114.4(CEP290):c.442-11del rs199511358
NM_025114.4(CEP290):c.442-22_442-21dup rs199511358
NM_025114.4(CEP290):c.442-22dup rs199511358
NM_025114.4(CEP290):c.495+8dup
NM_025114.4(CEP290):c.5227-14del rs747878752
NM_025114.4(CEP290):c.5227-23dup rs747878752
NM_025114.4(CEP290):c.5364+14C>T
NM_025114.4(CEP290):c.6270+18del rs371141771
NM_025114.4(CEP290):c.6522+11_6522+12del
NM_025114.4(CEP290):c.6522+11_6522+12dup
NM_025114.4(CEP290):c.6522+12del
NM_025114.4(CEP290):c.6522+5dup rs11405846
NM_025114.4(CEP290):c.6523-12dup rs1216267478
NM_025114.4(CEP290):c.6523-6del
NM_025114.4(CEP290):c.669+6del rs761225874
NM_025114.4(CEP290):c.670-3dup
NM_025114.4(CEP290):c.6819-15del
NM_025114.4(CEP290):c.6819-15dup
NM_025114.4(CEP290):c.7129+18dup
NM_025114.4(CEP290):c.7394_7395del (p.Glu2465fs) rs569673313
NM_025114.4(CEP290):c.942+11del
NM_025114.4(CEP290):c.942+4dup rs558914208
NM_025136.4(OPA3):c.*1761A>T rs141446737
NM_025136.4(OPA3):c.*4857A>T rs4803833
NM_025136.4(OPA3):c.*6289A>G rs182293743
NM_025136.4(OPA3):c.143-5dup
NM_025152.3(NUBPL):c.*836C>G rs10147479
NM_025152.3(NUBPL):c.383-5dup rs35659584
NM_025215.6(PUS1):c.110C>G (p.Pro37Arg) rs561744467
NM_025216.3(WNT10A):c.1003G>A (p.Asp335Asn) rs545956598
NM_025216.3(WNT10A):c.4G>A (p.Gly2Ser) rs533605522
NM_025265.4(TSEN2):c.122G>A (p.Arg41His) rs12495784
NM_030578.4(B9D2):c.-4-60_-4-59insT rs3217387
NM_030632.3(ASXL3):c.246+64G>T rs4799705
NM_030632.3(ASXL3):c.2579T>A (p.Met860Lys) rs61734121
NM_030632.3(ASXL3):c.3130A>G (p.Ser1044Gly)
NM_030632.3(ASXL3):c.6072T>C (p.Pro2024=) rs772621870
NM_030662.4(MAP2K2):c.705+11G>C rs202086678
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_030665.4(RAI1):c.834GCA[12] (p.Gln291del) rs371983878
NM_030777.4(SLC2A10):c.237C>T (p.Leu79=) rs201323237
NM_030777.4(SLC2A10):c.316G>T (p.Ala106Ser) rs6094438
NM_030928.4(CDT1):c.248C>T (p.Pro83Leu) rs139038990
NM_030957.4(ADAMTS10):c.811-149G>A rs7248483
NM_030973.4(MED25):c.1101+24_1101+42dup rs564179307
NM_030973.4(MED25):c.597C>A (p.Ala199=) rs149788020
NM_031483.7(ITCH):c.1570-3del rs759646195
NM_031483.7(ITCH):c.1570-3dup rs759646195
NM_031483.7(ITCH):c.1818+20T>A rs557929099
NM_031483.7(ITCH):c.2417-3del
NM_031483.7(ITCH):c.966-9C>T rs879012592
NM_032043.3(BRIP1):c.*158T>C rs1978111
NM_032043.3(BRIP1):c.1473+14del rs876660968
NM_032043.3(BRIP1):c.1473+14dup rs876660968
NM_032043.3(BRIP1):c.1935+5GTT[2] rs730881641
NM_032043.3(BRIP1):c.2098-16del rs1064793669
NM_032043.3(BRIP1):c.2098-22dup rs1064793669
NM_032043.3(BRIP1):c.2258-13dup rs2144680932
NM_032043.3(BRIP1):c.2380-11dup rs2144384661
NM_032043.3(BRIP1):c.2400C>T (p.Tyr800=) rs574552037
NM_032043.3(BRIP1):c.2493-10dup rs1457869893
NM_032043.3(BRIP1):c.380-17del rs545021924
NM_032043.3(BRIP1):c.380-17dup rs545021924
NM_032043.3(BRIP1):c.385C>T (p.Pro129Ser) rs1555616229
NM_032043.3(BRIP1):c.918+17del
NM_032208.3(ANTXR1):c.1434+45_1434+46insTCAC rs57847359
NM_032208.3(ANTXR1):c.1434+49T>C rs7584057
NM_032444.4(SLX4):c.1163+10C>G rs80116508
NM_032444.4(SLX4):c.1163+10C>T rs80116508
NM_032444.4(SLX4):c.1227G>A (p.Lys409=) rs534443134
NM_032444.4(SLX4):c.1511C>G (p.Pro504Arg) rs569591337
NM_032444.4(SLX4):c.258AAG[1] (p.Arg87del) rs536289991
NM_032444.4(SLX4):c.2854_2855delinsAT (p.Ala952Met) rs863224277
NM_032444.4(SLX4):c.5154-4del rs2151116057
NM_032545.4(CFC1):c.433G>A (p.Ala145Thr) rs199715380
NM_032634.4(PIGO):c.2520C>T (p.Leu840=) rs537796918
NM_032634.4(PIGO):c.2563A>G (p.Ile855Val)
NM_032634.4(PIGO):c.2854+8del rs756312077
NM_032634.4(PIGO):c.512-17C>T rs2240116
NM_032634.4(PIGO):c.714C>T (p.Gly238=) rs148186264
NM_032656.4(DHX37):c.2331A>G (p.Thr777=) rs10773127
NM_032801.5(JAM3):c.410-14_410-13insCT rs3216140
NM_032801.5(JAM3):c.410-14_410-13insCTT rs3216140
NM_032834.4(ALG10):c.1339G>A (p.Val447Ile) rs121908850
NM_032861.4(SERAC1):c.*258G>A
NM_032861.4(SERAC1):c.1016-31_1016-17del rs374730949
NM_032861.4(SERAC1):c.1309-18_1309-17del rs780332152
NM_032861.4(SERAC1):c.1396A>T (p.Met466Leu) rs115459512
NM_032861.4(SERAC1):c.1502-24dup rs780420200
NM_032861.4(SERAC1):c.266-48dup rs71027384
NM_032861.4(SERAC1):c.364A>G (p.Ser122Gly) rs191208250
NM_032861.4(SERAC1):c.597A>G (p.Pro199=)
NM_032861.4(SERAC1):c.92-10del
NM_032888.4(COL27A1):c.1264G>A (p.Ala422Thr) rs2241671
NM_032888.4(COL27A1):c.1963-277T>C rs4979351
NM_032888.4(COL27A1):c.2016+99A>C rs10759688
NM_032888.4(COL27A1):c.2148G>T (p.Pro716=) rs13290696
NM_032888.4(COL27A1):c.3758G>A (p.Arg1253His) rs200928771
NM_032888.4(COL27A1):c.4206+11C>G rs72762675
NM_033026.6(PCLO):c.8778_8780dup (p.Asp2926dup) rs10630259
NM_033109.5(PNPT1):c.*11dup rs35916020
NM_033337.3(CAV3):c.402G>C (p.Ala134=) rs559206877
NM_052854.3(CREB3L1):c.1525dup rs79068197
NM_052854.4(CREB3L1):c.1523+6del rs67946579
NM_052859.4(RFT1):c.267-13dup
NM_052859.4(RFT1):c.267-20del
NM_052859.4(RFT1):c.64-16del rs776377276
NM_052867.4(NALCN):c.1593C>T (p.Val531=) rs3916906
NM_052989.3(IFT122):c.108+10dup
NM_052989.3(IFT122):c.1713G>T (p.Ser571=) rs150174636
NM_052989.3(IFT122):c.1836C>T (p.Ala612=)
NM_052989.3(IFT122):c.1993-7G>C rs2285354
NM_052989.3(IFT122):c.273-266G>A
NM_052989.3(IFT122):c.3051C>T (p.His1017=) rs538635135
NM_058179.4(PSAT1):c.571-4dup rs536197677
NM_058179.4(PSAT1):c.869+17dup rs2118682102
NM_058216.3(RAD51C):c.1026+13T>C rs531535812
NM_058216.3(RAD51C):c.1027-10del rs768715761
NM_058216.3(RAD51C):c.1027-10dup rs768715761
NM_058216.3(RAD51C):c.146-9del
NM_058216.3(RAD51C):c.459T>G (p.Gly153=) rs769486350
NM_058216.3(RAD51C):c.572-11del rs587780258
NM_058216.3(RAD51C):c.905-9del
NM_078470.6(COX15):c.*3485dup rs11405417
NM_080473.5(GATA5):c.852G>A (p.Lys284=) rs6587239
NM_080473.5(GATA5):c.981G>C (p.Ser327=) rs6061243
NM_080605.4(B3GALT6):c.109G>A (p.Gly37Arg) rs867336520
NM_080605.4(B3GALT6):c.22_36dup (p.Trp8_Ala12dup) rs1553151151
NM_080632.3(UPF3B):c.1001C>T (p.Pro334Leu)
NM_080632.3(UPF3B):c.1117C>T (p.Arg373Cys) rs373472438
NM_080632.3(UPF3B):c.1120C>T (p.Arg374Cys)
NM_080632.3(UPF3B):c.1197A>G (p.Thr399=)
NM_080632.3(UPF3B):c.140A>C (p.Lys47Thr)
NM_080632.3(UPF3B):c.146C>T (p.Ala49Val)
NM_080632.3(UPF3B):c.157-16T>G rs769285530
NM_080632.3(UPF3B):c.263+14_263+18dup
NM_080632.3(UPF3B):c.263+15_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+17_263+18dup rs55712755
NM_080632.3(UPF3B):c.263+18del rs55712755
NM_080632.3(UPF3B):c.263+18dup rs55712755
NM_080632.3(UPF3B):c.294C>T (p.Tyr98=)
NM_080632.3(UPF3B):c.30G>A (p.Lys10=) rs557005278
NM_080632.3(UPF3B):c.370+20G>A
NM_080632.3(UPF3B):c.371-9del
NM_080632.3(UPF3B):c.371-9dup
NM_080632.3(UPF3B):c.384C>T (p.Pro128=)
NM_080632.3(UPF3B):c.470-17C>T
NM_080632.3(UPF3B):c.480T>C (p.Tyr160=)
NM_080632.3(UPF3B):c.93G>A (p.Gly31=)
NM_080632.3(UPF3B):c.989A>G (p.Lys330Arg)
NM_080680.3(COL11A2):c.2484+13del rs55730247
NM_080680.3(COL11A2):c.2682+26A>C rs9277932
NM_080680.3(COL11A2):c.3111G>T (p.Pro1037=) rs146093235
NM_080680.3(COL11A2):c.826G>A (p.Glu276Lys) rs9277934
NM_130837.3(OPA1):c.*1610C>A rs73069785
NM_130837.3(OPA1):c.*560T>C rs7643844
NM_133259.4(LRPPRC):c.*2041C>T rs7581308
NM_133259.4(LRPPRC):c.1489-56T>G rs10190161
NM_133259.4(LRPPRC):c.1491A>T (p.Glu497Asp) rs571886021
NM_133259.4(LRPPRC):c.1677+11C>G rs58811869
NM_133259.4(LRPPRC):c.3039+21C>A rs7568481
NM_133433.4(NIPBL):c.1495+8_1495+10del rs398124464
NM_133433.4(NIPBL):c.3305-18A>G
NM_133433.4(NIPBL):c.3340G>A (p.Ala1114Thr)
NM_133433.4(NIPBL):c.4290A>G (p.Leu1430=)
NM_133433.4(NIPBL):c.4422-12del rs797045759
NM_133433.4(NIPBL):c.483C>T (p.Ser161=)
NM_133433.4(NIPBL):c.4921-12T>C
NM_133433.4(NIPBL):c.4986C>T (p.Asn1662=)
NM_133433.4(NIPBL):c.5710-13C>T rs562131143
NM_133433.4(NIPBL):c.5808+20G>C
NM_133433.4(NIPBL):c.65-20T>G
NM_133433.4(NIPBL):c.6590-12C>T
NM_133433.4(NIPBL):c.6763+20T>C
NM_133433.4(NIPBL):c.6955-9del rs757731487
NM_133433.4(NIPBL):c.6955-9dup
NM_133433.4(NIPBL):c.7685+19T>G
NM_133433.4(NIPBL):c.7934C>T (p.Ala2645Val) rs1248025959
NM_133433.4(NIPBL):c.8050-15del
NM_133459.4(CCBE1):c.*1258C>G rs571761684
NM_133459.4(CCBE1):c.*2013_*2016del rs373652074
NM_133459.4(CCBE1):c.*2227G>A rs9959855
NM_133459.4(CCBE1):c.*2298dup rs35448271
NM_133459.4(CCBE1):c.*2638del rs5825337
NM_133459.4(CCBE1):c.*2952dup rs11424706
NM_133459.4(CCBE1):c.*3475G>C rs17769805
NM_133459.4(CCBE1):c.*4426del rs66482821
NM_133459.4(CCBE1):c.775+82A>G rs3809990
NM_138295.5(PKD1L1):c.2667G>A (p.Ser889=)
NM_138295.5(PKD1L1):c.3158G>C (p.Arg1053Pro) rs10274334
NM_138295.5(PKD1L1):c.3833C>A (p.Pro1278Gln) rs78833972
NM_138295.5(PKD1L1):c.4362+46dup rs34177211
NM_138425.4(C12orf57):c.229+25_229+43del rs199730337
NM_138425.4(C12orf57):c.30C>T (p.Ala10=) rs199643110
NM_138425.4(C12orf57):c.52+26_52+54del rs781901992
NM_138927.4(SON):c.5868CAGCCGCACCCCCAGCCGCCG[3] (p.1957SRTPSRR[5]) rs1462103775
NM_138959.3(VANGL1):c.*1749G>T rs3811010
NM_138959.3(VANGL1):c.*313A>G rs3811012
NM_138959.3(VANGL1):c.*4788C>G rs148437823
NM_138959.3(VANGL1):c.*5008T>A rs117347999
NM_138959.3(VANGL1):c.*5633T>G rs4348723
NM_138959.3(VANGL1):c.*6084C>G rs536289395
NM_138959.3(VANGL1):c.-226G>C rs116216703
NM_138959.3(VANGL1):c.575T>C (p.Leu192Pro) rs561312836
NM_139057.4(ADAMTS17):c.*1014_*1019del rs11277519
NM_139057.4(ADAMTS17):c.*1227AAGG[1] rs10549565
NM_139057.4(ADAMTS17):c.*1419G>A rs75143725
NM_139057.4(ADAMTS17):c.*1773G>T rs74037057
NM_139057.4(ADAMTS17):c.*2013T>G rs2727194
NM_139057.4(ADAMTS17):c.*2354C>T rs8036076
NM_139057.4(ADAMTS17):c.*429A>C rs2581346
NM_139057.4(ADAMTS17):c.*498A>C rs2573651
NM_139057.4(ADAMTS17):c.*567G>A rs2573649
NM_139057.4(ADAMTS17):c.*567G>C rs2573649
NM_139057.4(ADAMTS17):c.*882G>C rs2581358
NM_139057.4(ADAMTS17):c.*99A>G rs58960452
NM_139057.4(ADAMTS17):c.-19del rs150933882
NM_139057.4(ADAMTS17):c.-20G>T rs569251254
NM_139057.4(ADAMTS17):c.1337C>T (p.Thr446Ile) rs72755233
NM_139057.4(ADAMTS17):c.1696A>C (p.Arg566=) rs12907333
NM_139057.4(ADAMTS17):c.2518G>A (p.Asp840Asn) rs147316982
NM_139057.4(ADAMTS17):c.3138C>T (p.Thr1046=) rs112214202
NM_139125.4(MASP1):c.1155C>T (p.Asn385=)
NM_139125.4(MASP1):c.415+13A>C
NM_139125.4(MASP1):c.753T>G (p.Val251=)
NM_144508.5(KNL1):c.6173-13del rs34904135
NM_144966.5(FREM1):c.*1865T>C rs1494342
NM_144966.5(FREM1):c.*2330C>G rs2270526
NM_145054.5(CFAP52):c.1155C>T (p.Asp385=)
NM_145054.5(CFAP52):c.537-7del rs57409272
NM_145054.5(CFAP52):c.537-7dup
NM_145054.5(CFAP52):c.636+12_636+16del
NM_145054.5(CFAP52):c.854+10G>T
NM_145068.4(TRPV3):c.*1485G>A rs542568031
NM_145068.4(TRPV3):c.*2054A>T rs554529243
NM_145068.4(TRPV3):c.*2352G>A rs4790503
NM_145068.4(TRPV3):c.*279G>C rs544410561
NM_145068.4(TRPV3):c.*3155G>A rs150072559
NM_145068.4(TRPV3):c.*64TG[1] rs10573788
NM_145068.4(TRPV3):c.1065+16G>T rs454738
NM_145068.4(TRPV3):c.1281G>T (p.Thr427=) rs114034214
NM_145068.4(TRPV3):c.2279-15T>A rs72809877
NM_145068.4(TRPV3):c.592G>A (p.Asp198Asn) rs78615718
NM_145068.4(TRPV3):c.956G>A (p.Arg319His) rs151284467
NM_145068.4(TRPV3):c.95C>G (p.Ala32Gly) rs115770751
NM_145861.4(EDARADD):c.*1601C>A rs3916983
NM_145861.4(EDARADD):c.*1601C>G rs3916983
NM_145861.4(EDARADD):c.*956C>T rs201986008
NM_145861.4(EDARADD):c.161-6del rs555177993
NM_145861.4(EDARADD):c.161-6dup rs555177993
NM_147127.5(EVC2):c.1146-12dup
NM_147127.5(EVC2):c.1710+16C>T
NM_147127.5(EVC2):c.1711-10del rs35103377
NM_147127.5(EVC2):c.1711-11_1711-10del rs35103377
NM_147127.5(EVC2):c.1711-11_1711-10dup rs35103377
NM_147127.5(EVC2):c.1711-12_1711-10dup rs35103377
NM_147127.5(EVC2):c.1711-20dup rs35103377
NM_147127.5(EVC2):c.2047-18dup
NM_147127.5(EVC2):c.2394_2395delinsAC (p.Asp799His) rs1577169974
NM_147127.5(EVC2):c.2571C>T (p.Gly857=) rs533262793
NM_147127.5(EVC2):c.3272+8G>A rs201800139
NM_147127.5(EVC2):c.3272+8G>C rs201800139
NM_147127.5(EVC2):c.451-16_451-15del rs377541465
NM_147127.5(EVC2):c.817-11dup
NM_147191.1(MMP21):c.486C>T (p.Tyr162=)
NM_152281.3(GORAB):c.61+17A>C rs76513879
NM_152383.5(DIS3L2):c.*314A>T rs187723884
NM_152383.5(DIS3L2):c.1087A>G (p.Ile363Val) rs540563766
NM_152383.5(DIS3L2):c.1253C>T (p.Pro418Leu) rs752820747
NM_152383.5(DIS3L2):c.1659+18dup rs1693773339
NM_152383.5(DIS3L2):c.1782C>G (p.Ala594=) rs765160562
NM_152383.5(DIS3L2):c.211-10dup rs767260895
NM_152383.5(DIS3L2):c.2158+8del
NM_152383.5(DIS3L2):c.2159-10dup
NM_152383.5(DIS3L2):c.2496+11del
NM_152383.5(DIS3L2):c.2496+9C>T rs573355704
NM_152383.5(DIS3L2):c.265-10del
NM_152383.5(DIS3L2):c.52+9del rs2106220830
NM_152383.5(DIS3L2):c.703-3del
NM_152383.5(DIS3L2):c.730T>C (p.Ser244Pro) rs2106355288
NM_152383.5(DIS3L2):c.874C>A (p.Arg292=) rs182004457
NM_152416.4(NDUFAF6):c.420+15dup rs34960210
NM_152416.4(NDUFAF6):c.421-13_421-12del rs79118993
NM_152419.3(HGSNAT):c.*1086G>C rs145370743
NM_152419.3(HGSNAT):c.*1942A>G rs112626858
NM_152419.3(HGSNAT):c.*2755C>T rs76686222
NM_152419.3(HGSNAT):c.*600C>T rs377372501
NM_152419.3(HGSNAT):c.10G>C (p.Ala4Pro)
NM_152419.3(HGSNAT):c.1129-7dup
NM_152419.3(HGSNAT):c.1250+19dup
NM_152419.3(HGSNAT):c.1251-12del
NM_152419.3(HGSNAT):c.204C>T (p.Thr68=) rs199816365
NM_152419.3(HGSNAT):c.564-4dup rs748560542
NM_152419.3(HGSNAT):c.6C>A (p.Ser2Arg)
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln) rs727503962
NM_152558.5(IQCE):c.*23C>T rs3735110
NM_152558.5(IQCE):c.1609-5dup rs369981952
NM_152558.5(IQCE):c.1996T>G (p.Leu666Val) rs3735109
NM_152558.5(IQCE):c.2069C>T (p.Thr690Met) rs1061566
NM_152558.5(IQCE):c.312T>C (p.Thr104=) rs2917751
NM_152564.5(VPS13B):c.*431TTA[1] rs10542428
NM_152564.5(VPS13B):c.*700GAT[1] rs60078732
NM_152564.5(VPS13B):c.11496-7dup
NM_152564.5(VPS13B):c.11745+15del rs1450725730
NM_152564.5(VPS13B):c.11746-10dup
NM_152564.5(VPS13B):c.1206+19_1206+34del rs750619814
NM_152564.5(VPS13B):c.1293T>G (p.Thr431=) rs77759532
NM_152564.5(VPS13B):c.148-11del
NM_152564.5(VPS13B):c.2013+9del rs2132597306
NM_152564.5(VPS13B):c.2208+9del rs2132624713
NM_152564.5(VPS13B):c.2209-4T>G rs201309214
NM_152564.5(VPS13B):c.2824+97G>C rs7840337
NM_152564.5(VPS13B):c.2934+25dup rs770873113
NM_152564.5(VPS13B):c.3445+20dup
NM_152564.5(VPS13B):c.3667-14dup
NM_152564.5(VPS13B):c.413-12del
NM_152564.5(VPS13B):c.413-12dup
NM_152564.5(VPS13B):c.4633+22del rs756149542
NM_152564.5(VPS13B):c.4633+22dup rs756149542
NM_152564.5(VPS13B):c.4861C>T (p.Pro1621Ser) rs563705133
NM_152564.5(VPS13B):c.5076+22del
NM_152564.5(VPS13B):c.5077-8del
NM_152564.5(VPS13B):c.5221-8dup rs2133931327
NM_152564.5(VPS13B):c.581-9del
NM_152564.5(VPS13B):c.581-9dup rs60664170
NM_152564.5(VPS13B):c.6046+17del
NM_152564.5(VPS13B):c.6454+19del rs772522395
NM_152564.5(VPS13B):c.6455-4del rs398124337
NM_152564.5(VPS13B):c.6455-4dup rs398124337
NM_152564.5(VPS13B):c.6455-5_6455-4dup
NM_152564.5(VPS13B):c.6658-13del
NM_152564.5(VPS13B):c.6658-13dup
NM_152564.5(VPS13B):c.6658-5dup
NM_152564.5(VPS13B):c.7051-13del
NM_152564.5(VPS13B):c.7429+14dup rs747441995
NM_152564.5(VPS13B):c.762+19dup rs770716174
NM_152564.5(VPS13B):c.7673T>C (p.Val2558Ala)
NM_152564.5(VPS13B):c.7942-7dup
NM_152564.5(VPS13B):c.8446-5del rs760534492
NM_152564.5(VPS13B):c.8776AAG[1] (p.Lys2927del) rs549810522
NM_152564.5(VPS13B):c.8792+24dup
NM_152564.5(VPS13B):c.8994+16del
NM_152564.5(VPS13B):c.9331-98dup rs68156520
NM_152564.5(VPS13B):c.9331-99_9331-98dup rs68156520
NM_152564.5(VPS13B):c.9331_9332insTTTTTTTTTT (p.Tyr3111fs) rs757435621
NM_152564.5(VPS13B):c.9332A>T (p.Tyr3111Phe) rs199704158
NM_152564.5(VPS13B):c.9340G>T (p.Val3114Phe) rs752763935
NM_152564.5(VPS13B):c.9742+13C>T rs112919682
NM_152564.5(VPS13B):c.9742+9dup
NM_152594.3(SPRED1):c.*3946G>A rs8039337
NM_152594.3(SPRED1):c.1225G>T (p.Ala409Ser) rs762735151
NM_152594.3(SPRED1):c.582+22del
NM_152594.3(SPRED1):c.685-3dup
NM_152705.3(POLR1D):c.219G>C (p.Ala73=) rs11029
NM_153240.5(NPHP3):c.3125+7dup rs11396595
NM_153427.2(PITX2):c.-1532C>A rs117231596
NM_153427.2(PITX2):c.-485C>G rs2739200
NM_153490.3(KRT13):c.1217G>T (p.Arg406Leu) rs145983286
NM_153490.3(KRT13):c.1286G>A (p.Arg429His) rs150321809
NM_153603.4(COG7):c.1089C>T (p.Gly363=) rs539939894
NM_153603.4(COG7):c.169+18del rs140548275
NM_153603.4(COG7):c.170-10_170-9del rs71379679
NM_153603.4(COG7):c.170-9del rs71379679
NM_153603.4(COG7):c.1803+15G>A
NM_153603.4(COG7):c.2146+10del rs748589611
NM_153603.4(COG7):c.366C>T (p.Ala122=) rs74012178
NM_153603.4(COG7):c.810+16del
NM_153704.6(TMEM67):c.1960+17dup rs1475466139
NM_153704.6(TMEM67):c.2010A>G (p.Thr670=) rs137989705
NM_153704.6(TMEM67):c.2765-6dup
NM_153704.6(TMEM67):c.313-13del rs367575555
NM_153704.6(TMEM67):c.651+22del
NM_153704.6(TMEM67):c.651+22dup
NM_153704.6(TMEM67):c.869+20T>C
NM_153717.3(EVC):c.1346C>A (p.Thr449Lys) rs2302075
NM_153717.3(EVC):c.154C>T (p.Arg52Cys)
NM_153717.3(EVC):c.162C>T (p.Arg54=) rs1305323625
NM_153717.3(EVC):c.1727G>A (p.Arg576Gln) rs1383180
NM_153717.3(EVC):c.1777-6G>A rs565093715
NM_153717.3(EVC):c.1854C>T (p.Gly618=) rs11737221
NM_153717.3(EVC):c.2449+15del rs398092136
NM_153717.3(EVC):c.2449+15dup rs398092136
NM_153717.3(EVC):c.2449+16del
NM_153717.3(EVC):c.2562-3del
NM_153717.3(EVC):c.2562-4C>G rs60082311
NM_153717.3(EVC):c.2895-10_2895-9del rs371125826
NM_153717.3(EVC):c.2895-16_2895-13del rs773917688
NM_153717.3(EVC):c.612C>T (p.Cys204=) rs553634958
NM_153717.3(EVC):c.71C>A (p.Ala24Glu)
NM_153717.3(EVC):c.802-12_802-11del rs372546602
NM_153717.3(EVC):c.91G>A (p.Ala31Thr)
NM_170665.4(ATP2A2):c.1997G>A (p.Arg666Gln)
NM_170665.4(ATP2A2):c.2058C>T (p.Ile686=) rs140766323
NM_170665.4(ATP2A2):c.2860-10TG[2] rs372303998
NM_170665.4(ATP2A2):c.2925C>T (p.Pro975=) rs147558863
NM_170707.4(LMNA):c.-88G>T rs115800510
NM_170784.3(MKKS):c.986-4dup
NM_173086.5(KRT6C):c.181C>T (p.Leu61=) rs201833096
NM_173086.5(KRT6C):c.428G>A (p.Ser143Asn) rs151117600
NM_173086.5(KRT6C):c.687C>G (p.Val229=) rs425073
NM_173660.5(DOK7):c.1305C>A (p.Gly435=) rs201894731
NM_173660.5(DOK7):c.220= (p.Leu74=) rs4325970
NM_173660.5(DOK7):c.54+31_54+33del rs71180187
NM_173660.5(DOK7):c.54+32_54+33del rs71180187
NM_173660.5(DOK7):c.54+32_54+33dup rs71180187
NM_173660.5(DOK7):c.54+33dup rs71180187
NM_173660.5(DOK7):c.546C>T (p.Phe182=) rs575721820
NM_173660.5(DOK7):c.55-12del rs1214849085
NM_173660.5(DOK7):c.653-20G>T rs185980724
NM_173660.5(DOK7):c.772+13dup
NM_173660.5(DOK7):c.781C>T (p.Arg261Cys) rs142821143
NM_173660.5(DOK7):c.909T>C (p.Ala303=)
NM_173660.5(DOK7):c.918C>T (p.Ala306=) rs141947707
NM_173660.5(DOK7):c.967C>T (p.Arg323Cys) rs150728781
NM_173849.3(GSC):c.108G>A (p.Pro36=) rs191352872
NM_174889.4(NDUFAF2):c.-91C>T rs4647036
NM_174916.3(UBR1):c.81+32T>C rs68062403
NM_174934.4(SCN4B):c.282G>A (p.Thr94=)
NM_174934.4(SCN4B):c.62-19G>T
NM_175875.5(SIX5):c.1666C>G (p.Leu556Val) rs2014377
NM_176787.5(PIGN):c.1116+11_1116+12del
NM_176787.5(PIGN):c.1116+12del rs199971157
NM_176787.5(PIGN):c.1116+12dup rs199971157
NM_176787.5(PIGN):c.1117-1= rs9959632
NM_176787.5(PIGN):c.1173-16dup rs747759182
NM_176787.5(PIGN):c.1173-9del
NM_176787.5(PIGN):c.1252-9dup
NM_176787.5(PIGN):c.1408A>T (p.Ile470Leu) rs3862712
NM_176787.5(PIGN):c.1435-15del
NM_176787.5(PIGN):c.2427-20dup rs754102116
NM_176787.5(PIGN):c.2577-13dup rs138671843
NM_176787.5(PIGN):c.2577-5del rs138671843
NM_176787.5(PIGN):c.2620-17_2620-16dup rs11437076
NM_176787.5(PIGN):c.2620-17dup rs11437076
NM_176787.5(PIGN):c.2620-5del rs11437076
NM_176787.5(PIGN):c.922+13_922+16del rs144114585
NM_176787.5(PIGN):c.964-9dup rs2147171105
NM_176795.5(HRAS):c.488_507del (p.Leu163fs) rs776060230
NM_178565.5(RSPO2):c.557T>C (p.Leu186Pro) rs601558
NM_181458.4(PAX3):c.1420+55C>T rs186207055
NM_181486.4(TBX5):c.*1385del rs35534655
NM_181486.4(TBX5):c.*97G>A rs883079
NM_181486.4(TBX5):c.1157C>A (p.Pro386His) rs771857554
NM_181486.4(TBX5):c.462C>A (p.Ser154=)
NM_181486.4(TBX5):c.613G>T (p.Val205Phe) rs190881877
NM_181523.3(PIK3R1):c.1050A>G (p.Thr350=)
NM_181523.3(PIK3R1):c.837-7C>T rs571365105
NM_181523.3(PIK3R1):c.916+9T>G
NM_181741.4(ORC4):c.-17-11dup rs2307399
NM_181741.4(ORC4):c.763-9del rs66919703
NM_181789.4(GLDN):c.794G>A (p.Ser265Asn) rs17648128
NM_182760.4(SUMF1):c.*11A>T rs2633851
NM_182760.4(SUMF1):c.*460_*463del rs71873849
NM_182760.4(SUMF1):c.*568G>A rs73022033
NM_182760.4(SUMF1):c.179C>A (p.Ala60Asp)
NM_182760.4(SUMF1):c.182A>G (p.His61Arg)
NM_182760.4(SUMF1):c.196G>A (p.Ala66Thr)
NM_182760.4(SUMF1):c.198C>T (p.Ala66=)
NM_182760.4(SUMF1):c.954+7A>G rs560003466
NM_182760.4(SUMF1):c.95C>T (p.Ala32Val) rs374677940
NM_182895.5(SCARF2):c.2187G>C (p.Glu729Asp) rs762551525
NM_182895.5(SCARF2):c.2236dup (p.Arg746fs) rs2146119376
NM_182895.5(SCARF2):c.2247C>G (p.Gly749=) rs1421018530
NM_182895.5(SCARF2):c.2248dup (p.Leu750fs) rs2146119293
NM_182895.5(SCARF2):c.2287dup (p.Ala763fs) rs2146119159
NM_182895.5(SCARF2):c.2444C>G (p.Ala815Gly) rs874100
NM_182961.4(SYNE1):c.11254-31T>G rs6932325
NM_182961.4(SYNE1):c.11581-15dup rs5880967
NM_182961.4(SYNE1):c.13417G>A (p.Glu4473Lys) rs554814659
NM_182961.4(SYNE1):c.9495A>G (p.Glu3165=) rs6913579
NM_194318.4(B3GLCT):c.*2446A>G rs9601137
NM_194318.4(B3GLCT):c.*29G>T rs1060709
NM_194318.4(B3GLCT):c.*889A>G rs2025729
NM_194318.4(B3GLCT):c.161-8del
NM_194318.4(B3GLCT):c.161-8dup rs757600274
NM_194318.4(B3GLCT):c.597-23del rs3215787
NM_194318.4(B3GLCT):c.71-5del rs398022187
NM_194318.4(B3GLCT):c.781-12del rs747597532
NM_194318.4(B3GLCT):c.781-34_781-31dup rs137981677
NM_198173.3(GRHL3):c.1047+9T>G
NM_198173.3(GRHL3):c.1385A>G (p.Asn462Ser)
NM_198173.3(GRHL3):c.204+13C>G
NM_198173.3(GRHL3):c.204+14del
NM_198173.3(GRHL3):c.221G>A (p.Arg74Gln)
NM_198174.3(GRHL3):c.1718G>A (p.Arg573His)
NM_198174.3(GRHL3):c.1767G>A (p.Val589=)
NM_198525.3(KIF7):c.1221C>T (p.Ala407=) rs886051535
NM_198525.3(KIF7):c.1789-7C>T rs544015325
NM_198525.3(KIF7):c.195G>C (p.Ala65=) rs8179066
NM_198525.3(KIF7):c.2592+11C>A rs78199895
NM_198525.3(KIF7):c.2592+11C>T rs78199895
NM_198525.3(KIF7):c.2896-3del
NM_198525.3(KIF7):c.3345C>G (p.His1115Gln) rs142032413
NM_198525.3(KIF7):c.710G>T (p.Arg237Leu) rs529571444
NM_198525.3(KIF7):c.923+13dup
NM_198859.4(PRICKLE2):c.258+8del
NM_203486.3(DLL3):c.546C>G (p.Ala182=) rs8106337
NM_203486.3(DLL3):c.616C>G (p.Pro206Ala) rs376905666
NM_207034.3(EDN3):c.*146C>T rs11570352
NM_207034.3(EDN3):c.49G>A (p.Ala17Thr) rs11570255
NM_207361.6(FREM2):c.*1467G>A rs9548523
NM_207361.6(FREM2):c.*2140C>G rs7324632
NM_207361.6(FREM2):c.*5598T>G rs1945506
NM_207361.6(FREM2):c.*5627del rs5802961
NM_207361.6(FREM2):c.176G>A (p.Gly59Asp) rs115327344
NM_207361.6(FREM2):c.2308G>A (p.Val770Met) rs7327915
NM_207361.6(FREM2):c.6196C>T (p.Arg2066Cys) rs9548505
NM_207361.6(FREM2):c.7520-6_7520-5dup rs36084034
NM_207361.6(FREM2):c.9357G>C (p.Thr3119=) rs41306664
NM_213599.3(ANO5):c.*113del rs5790246
NM_213599.3(ANO5):c.*1762del rs398015552
NM_213599.3(ANO5):c.*3481dup rs147581685
NM_213599.3(ANO5):c.-161_-156AGG[3]GGAATGAGGAGGAGGAGGAGG[1] rs71034576
NM_213599.3(ANO5):c.-217G>T rs73479393
NM_213599.3(ANO5):c.138+10G>A rs78987921
NM_213599.3(ANO5):c.139-164del rs60388835
NM_213599.3(ANO5):c.1631-11del
NM_213599.3(ANO5):c.1631-11dup rs202244923
NM_213599.3(ANO5):c.2029+9dup
NM_213599.3(ANO5):c.2236-10del rs72105710
NM_213599.3(ANO5):c.2236-10dup rs72105710
NM_213599.3(ANO5):c.2236-11_2236-10dup rs72105710
NM_213599.3(ANO5):c.2236-12_2236-10del rs72105710
NM_213599.3(ANO5):c.2236-13_2236-10del rs72105710
NM_213599.3(ANO5):c.2415-22del rs5790245
NM_213599.3(ANO5):c.2646C>G (p.Asn882Lys) rs34969327
NM_213599.3(ANO5):c.295-8del
NM_213599.3(ANO5):c.295-8dup rs778435515
NM_213599.3(ANO5):c.364-8del rs146983312
NM_213599.3(ANO5):c.364-8dup rs146983312
NM_213599.3(ANO5):c.879-7_879-6del rs143977836
NM_213599.3(ANO5):c.966A>T (p.Leu322Phe) rs7481951
NM_213720.3(CHCHD10):c.312C>T (p.Tyr104=) rs9153
NM_213720.3(CHCHD10):c.409+27G>C rs140182
NR_002717.2(ATXN8OS):n.1103CTG[15_40]
NR_003051.3(RMRP):n.268del rs549047941
NR_003051.4(RMRP):n.1T>C rs188190570
NR_003051.4(RMRP):n.54dup rs151011853
SIX3:c.942G>A
TGIF1:c.887C>T
c.1069A>G
c.972T>C

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