NM_006514.4(SCN10A):c.5137A>G (p.Met1713Val)
|
rs6599241
|
1.00000
|
NM_014334.4(FRRS1L):c.-3C>G
|
rs10979724
|
0.99999
|
NM_000208.4(INSR):c.5C>G (p.Ala2Gly)
|
rs7508518
|
0.99996
|
NM_015330.6(SPECC1L):c.2851G>A (p.Val951Met)
|
rs204718
|
0.99996
|
NM_000268.4(NF2):c.1575-67G>A
|
rs140086
|
0.99995
|
NM_001278116.2(L1CAM):c.-109+1811dup
|
rs77883713
|
0.99995
|
NM_004813.4(PEX16):c.346G>A (p.Val116Ile)
|
rs10742772
|
0.99994
|
NM_030957.4(ADAMTS10):c.3303T>G (p.His1101Gln)
|
rs7252299
|
0.99986
|
NM_030928.4(CDT1):c.700T>C (p.Cys234Arg)
|
rs507329
|
0.99944
|
NM_000283.4(PDE6B):c.958G>A (p.Val320Ile)
|
rs10902758
|
0.99926
|
NM_001042413.2(GLIS3):c.1270T>C (p.Ser424Pro)
|
rs806052
|
0.99890
|
NM_053025.4(MYLK):c.1486C>G (p.Leu496Val)
|
rs9833275
|
0.99852
|
NM_000123.4(ERCC5):c.3157G>C (p.Gly1053Arg)
|
rs9514066
|
0.99822
|
NM_001163435.3(TBCK):c.796C>G (p.Gln266Glu)
|
rs3775091
|
0.99817
|
NM_198569.3(ADGRG6):c.3380A>G (p.Gln1127Arg)
|
rs1262686
|
0.99767
|
NM_052844.4(DYNC2I2):c.178T>G (p.Trp60Gly)
|
rs4837292
|
0.99672
|
NM_001367624.2(ZNF469):c.8627A>G (p.His2876Arg)
|
rs1983014
|
0.99622
|
NM_003055.3(SLC18A3):c.1559C>A (p.Ala520Glu)
|
rs8187730
|
0.99621
|
NM_031885.5(BBS2):c.209G>A (p.Ser70Asn)
|
rs4784677
|
0.99534
|
NM_000090.4(COL3A1):c.4059T>G (p.His1353Gln)
|
rs1516446
|
0.99509
|
NM_198569.3(ADGRG6):c.1476G>A (p.Leu492=)
|
rs989946
|
0.99467
|
NM_001363118.2(SLC52A2):c.1001+45A>G
|
rs116378047
|
0.99461
|
NM_004211.5(SLC6A5):c.485C>G (p.Ala162Gly)
|
rs1443549
|
0.99417
|
NM_000392.5(ABCC2):c.116A>T (p.Tyr39Phe)
|
rs927344
|
0.99331
|
NM_001291303.3(FAT4):c.11624G>A (p.Ser3875Asn)
|
rs12650153
|
0.99272
|
NM_005422.4(TECTA):c.5171G>A (p.Ser1724Asn)
|
rs526433
|
0.99235
|
NM_018051.5(DYNC2I1):c.675C>G (p.Asn225Lys)
|
rs2709859
|
0.99194
|
NM_024915.4(GRHL2):c.-24C>G
|
rs515622
|
0.98894
|
NM_000318.3(PEX2):c.550T>C (p.Cys184Arg)
|
rs10087163
|
0.98578
|
NM_000083.3(CLCN1):c.352G>T (p.Gly118Trp)
|
rs10282312
|
0.98349
|
NM_000288.4(PEX7):c.340-71G>A
|
rs927181
|
0.98050
|
NM_000059.4(BRCA2):c.7397T>C (p.Val2466Ala)
|
rs169547
|
0.97902
|
NM_001126108.2(SLC12A3):c.791C>G (p.Ala264Gly)
|
rs1529927
|
0.97710
|
NM_001329943.3(KIAA0586):c.2528T>C (p.Leu843Pro)
|
rs1748986
|
0.97574
|
NM_004393.6(DAG1):c.41C>G (p.Ser14Trp)
|
rs2131107
|
0.97526
|
NM_198428.3(BBS9):c.1329+1606C>T
|
rs6974593
|
0.97489
|
NM_000521.4(HEXB):c.185T>C (p.Leu62Ser)
|
rs820878
|
0.97243
|
NM_001009944.3(PKD1):c.2216G>A (p.Arg739Gln)
|
rs40433
|
0.96687
|
NM_002495.4(NDUFS4):c.198A>C (p.Gly66=)
|
rs31304
|
0.96579
|
NM_138694.4(PKHD1):c.5608T>G (p.Leu1870Val)
|
rs2435322
|
0.95778
|
NM_005027.4(PIK3R2):c.937T>C (p.Ser313Pro)
|
rs1011320
|
0.95640
|
NM_015386.3(COG4):c.485C>T (p.Thr162Ile)
|
rs3931036
|
0.95397
|
NM_004006.3(DMD):c.8810G>A (p.Arg2937Gln)
|
rs1800280
|
0.95243
|
NM_017739.4(POMGNT1):c.1867A>G (p.Met623Val)
|
rs6659553
|
0.94881
|
NM_001128225.3(SLC39A13):c.83A>G (p.Glu28Gly)
|
rs2010519
|
0.94826
|
NM_003823.4(TNFRSF6B):c.255A>G (p.Leu85=)
|
rs2738787
|
0.94528
|
NM_000327.4(ROM1):c.353G>C (p.Gly118Ala)
|
rs1799959
|
0.93846
|
NM_198994.3(TGM6):c.172A>G (p.Met58Val)
|
rs2076405
|
0.93204
|
NM_000322.5(PRPH2):c.929G>A (p.Arg310Lys)
|
rs425876
|
0.92861
|
NM_000027.4(AGA):c.446C>G (p.Thr149Ser)
|
rs2228119
|
0.92759
|
NM_001375834.1(WIPF1):c.593C>T (p.Pro198Leu)
|
rs4972450
|
0.92386
|
NM_001160372.4(TRAPPC9):c.2799T>C (p.Gly933=)
|
rs2614718
|
0.91935
|
NM_054012.4(ASS1):c.597+81A>G
|
rs641510
|
0.91777
|
NM_172364.5(CACNA2D4):c.979A>G (p.Ile327Val)
|
rs10735005
|
0.91686
|
NM_007317.3(KIF22):c.1425G>A (p.Val475=)
|
rs2450399
|
0.91348
|
NM_182916.3(TRNT1):c.68C>T (p.Pro23Leu)
|
rs334773
|
0.90803
|
NM_022153.2(VSIR):c.561T>G (p.Asp187Glu)
|
rs3747869
|
0.90370
|
NM_002591.4(PCK1):c.550G>C (p.Val184Leu)
|
rs707555
|
0.89165
|
NM_022114.4(PRDM16):c.1597T>C (p.Ser533Pro)
|
rs870124
|
0.89071
|
NM_019098.5(CNGB3):c.702T>G (p.Cys234Trp)
|
rs6471482
|
0.88912
|
NM_182746.3(MCM4):c.1948T>A (p.Leu650Met)
|
rs762679
|
0.88261
|
NM_002150.3(HPD):c.97A>G (p.Thr33Ala)
|
rs1154510
|
0.88222
|
NM_001366722.1(GRIP1):c.2461C>G (p.Gln821Glu)
|
rs13277
|
0.87545
|
NM_005902.4(SMAD3):c.309A>G (p.Leu103=)
|
rs1065080
|
0.87365
|
NM_000211.5(ITGB2):c.148-1089A>G
|
rs760462
|
0.87259
|
NM_001367624.2(ZNF469):c.4343C>T (p.Pro1448Leu)
|
rs4782300
|
0.87223
|
NM_198282.4(STING1):c.695A>G (p.His232Arg)
|
rs1131769
|
0.87015
|
NM_001101362.3(KBTBD13):c.798A>G (p.Glu266=)
|
rs2919359
|
0.86820
|
NM_000631.5(NCF4):c.758+57T>C
|
rs2075939
|
0.86715
|
NM_000535.7(PMS2):c.1621A>G (p.Lys541Glu)
|
rs2228006
|
0.86482
|
NM_203285.2(NECTIN1):c.1082T>G (p.Val361Gly)
|
rs7940667
|
0.86377
|
NM_207581.4(DUOXA2):c.298C>G (p.Arg100Gly)
|
rs2576090
|
0.86315
|
NM_001142864.4(PIEZO1):c.749T>C (p.Val250Ala)
|
rs7184427
|
0.85861
|
NM_183357.3(ADCY5):c.1647-17T>C
|
rs9855969
|
0.85751
|
NM_173354.5(SIK1):c.1844C>T (p.Ala615Val)
|
rs430554
|
0.85362
|
NM_003322.6(TULP1):c.783G>C (p.Lys261Asn)
|
rs2064318
|
0.84569
|
NM_001122769.3(LCA5):c.71T>C (p.Leu24Ser)
|
rs2655655
|
0.84544
|
NM_001145026.2(PTPRQ):c.1934T>A (p.Val645Asp)
|
rs10778752
|
0.84044
|
NM_001173990.3(TMEM216):c.432-11_432-10insA
|
rs11382548
|
0.83974
|
NM_000231.3(SGCG):c.860A>G (p.Asn287Ser)
|
rs1800354
|
0.83747
|
NM_001009944.3(PKD1):c.1119C>T (p.Leu373=)
|
rs35842
|
0.83599
|
NM_000265.7(NCF1):c.153+14T>C
|
rs707410
|
0.82549
|
NM_001330078.2(NRXN1):c.4129-30181T>C
|
rs9636391
|
0.82006
|
NM_001374353.1(GLI2):c.149-274C>G
|
rs6745937
|
0.82005
|
NM_001854.4(COL11A1):c.4603T>C (p.Ser1535Pro)
|
rs1676486
|
0.81716
|
NM_001673.5(ASNS):c.629T>A (p.Val210Glu)
|
rs1049674
|
0.81682
|
NM_000085.5(CLCNKB):c.641C>G (p.Ala214Gly)
|
rs1889789
|
0.81589
|
NM_015272.5(RPGRIP1L):c.1104-82C>T
|
rs4133017
|
0.80982
|
NM_000089.4(COL1A2):c.1645C>G (p.Pro549Ala)
|
rs42524
|
0.80779
|
NM_022124.6(CDH23):c.4051A>G (p.Asn1351Asp)
|
rs1227065
|
0.79969
|
NM_020921.4(NIN):c.3374A>C (p.Gln1125Pro)
|
rs12882191
|
0.79682
|
NM_176787.5(PIGN):c.685C>G (p.His229Asp)
|
rs9320001
|
0.79552
|
NM_004211.5(SLC6A5):c.371T>C (p.Phe124Ser)
|
rs1443548
|
0.79432
|
NM_212482.4(FN1):c.44A>T (p.Gln15Leu)
|
rs1250259
|
0.79353
|
NM_000322.5(PRPH2):c.910C>G (p.Gln304Glu)
|
rs390659
|
0.78498
|
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_020921.4(NIN):c.3959G>A (p.Gly1320Glu)
|
rs2073347
|
0.78250
|
NM_000091.5(COL4A3):c.422T>C (p.Leu141Pro)
|
rs10178458
|
0.77314
|
NM_024678.6(NARS2):c.260A>C (p.Asn87Thr)
|
rs10501429
|
0.76474
|
NM_000379.4(XDH):c.3276+12A>G
|
rs1366813
|
0.75380
|
NM_001377.3(DYNC2H1):c.8612G>A (p.Arg2871Gln)
|
rs589623
|
0.75293
|
NM_001384474.1(LOXHD1):c.3463A>G (p.Arg1155Gly)
|
rs1893566
|
0.75216
|
NM_001005373.4(LRSAM1):c.952A>G (p.Asn318Asp)
|
rs1539567
|
0.75123
|
NM_014324.6(AMACR):c.829G>A (p.Glu277Lys)
|
rs2278008
|
0.75062
|
NM_001378964.1(CDON):c.3662T>A (p.Ile1221Asn)
|
rs684535
|
0.74435
|
NM_021957.4(GYS2):c.1087A>G (p.Met363Val)
|
rs2306180
|
0.74398
|
NM_014000.3(VCL):c.2814C>G (p.Gly938=)
|
rs2131956
|
0.74148
|
NM_001379081.2(FREM1):c.6428A>C (p.Gln2143Pro)
|
rs10961689
|
0.74114
|
NM_001276345.2(TNNT2):c.601-32A>C
|
rs1104859
|
0.73965
|
NM_000271.5(NPC1):c.1926G>C (p.Met642Ile)
|
rs1788799
|
0.73957
|
NM_004553.6(NDUFS6):c.309+208T>C
|
rs4147773
|
0.73596
|
NM_207361.6(FREM2):c.6977C>T (p.Thr2326Ile)
|
rs9548509
|
0.73365
|
NM_020376.4(PNPLA2):c.1442T>C (p.Leu481Pro)
|
rs1138693
|
0.73113
|
NM_022124.6(CDH23):c.4723G>A (p.Ala1575Thr)
|
rs1227051
|
0.73017
|
NM_001200.4(BMP2):c.570A>T (p.Arg190Ser)
|
rs235768
|
0.72782
|
NM_002185.5(IL7R):c.412G>A (p.Val138Ile)
|
rs1494555
|
0.72524
|
NM_000152.5(GAA):c.1327-18A>G
|
rs2278619
|
0.71811
|
NM_001363711.2(DUOX2):c.3200C>T (p.Ser1067Leu)
|
rs269868
|
0.71631
|
NM_004560.4(ROR2):c.2455G>A (p.Val819Ile)
|
rs10761129
|
0.71630
|
NM_004836.7(EIF2AK3):c.497A>G (p.Gln166Arg)
|
rs13045
|
0.71334
|
NM_014751.6(MTSS1):c.1036-28C>T
|
rs4870903
|
0.71134
|
NM_002047.4(GARS1):c.124C>G (p.Pro42Ala)
|
rs1049402
|
0.70073
|
NM_020894.4(UVSSA):c.1859C>T (p.Pro620Leu)
|
rs28522910
|
0.69466
|
NM_001365276.2(TNXB):c.7553G>A (p.Gly2518Glu)
|
rs1009382
|
0.68787
|
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg)
|
rs1183768
|
0.68476
|
NM_022168.4(IFIH1):c.2528A>G (p.His843Arg)
|
rs3747517
|
0.68382
|
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr)
|
rs1494558
|
0.68368
|
NM_001378452.1(ITPR1):c.2007G>A (p.Lys669=)
|
rs2306875
|
0.68068
|
NM_206933.4(USH2A):c.6317T>C (p.Ile2106Thr)
|
rs6657250
|
0.67783
|
NM_002500.5(NEUROD1):c.133A>G (p.Thr45Ala)
|
rs1801262
|
0.67693
|
NM_020745.4(AARS2):c.2607G>A (p.Lys869=)
|
rs498512
|
0.67400
|
NM_001142800.2(EYS):c.2555T>C (p.Leu852Pro)
|
rs9294631
|
0.67363
|
NM_014751.6(MTSS1):c.619-571G>A
|
rs6470252
|
0.67255
|
NM_004453.4(ETFDH):c.92C>T (p.Thr31Ile)
|
rs11559290
|
0.67086
|
NM_001377.3(DYNC2H1):c.4238A>G (p.Lys1413Arg)
|
rs688906
|
0.66697
|
NM_001384474.1(LOXHD1):c.4530+107A>G
|
rs1450425
|
0.66249
|
NM_000376.3(VDR):c.2T>C (p.Met1Thr)
|
rs2228570
|
0.66221
|
NM_000108.5(DLD):c.439-7T>C
|
rs10263341
|
0.66181
|
NM_022893.4(BCL11A):c.386-24278G>A
|
rs11886868
|
0.65121
|
NM_000101.4(CYBA):c.214T>C (p.Tyr72His)
|
rs4673
|
0.64973
|
NM_001018005.2(TPM1):c.453C>A (p.Ala151=)
|
rs1071646
|
0.64628
|
NM_019098.5(CNGB3):c.892A>C (p.Thr298Pro)
|
rs4961206
|
0.64246
|
NM_000159.4(GCDH):c.*165A>G
|
rs8012
|
0.64188
|
NM_020451.3(SELENON):c.1506C>A (p.Asn502Lys)
|
rs2294228
|
0.64022
|
NM_000355.4(TCN2):c.776G>C (p.Arg259Pro)
|
rs1801198
|
0.63049
|
NM_002887.4(RARS1):c.7G>A (p.Val3Ile)
|
rs244903
|
0.62998
|
NM_000426.4(LAMA2):c.7760C>T (p.Ala2587Val)
|
rs2229848
|
0.62946
|
NM_003235.5(TG):c.6056-22G>T
|
rs1554541
|
0.62843
|
NM_018723.4(RBFOX1):c.-64+166491C>A
|
rs7187508
|
0.62707
|
NM_006005.3(WFS1):c.713-1075C>G
|
rs6446482
|
0.62564
|
NM_015386.3(COG4):c.1314+86A>C
|
rs2303791
|
0.62527
|
NM_001042413.2(GLIS3):c.1367C>A (p.Pro456Gln)
|
rs6415788
|
0.62075
|
NM_000213.5(ITGB4):c.5336T>C (p.Leu1779Pro)
|
rs871443
|
0.61836
|
NM_000557.5(GDF5):c.826G>T (p.Ala276Ser)
|
rs224331
|
0.61510
|
NM_032043.3(BRIP1):c.2755T>C (p.Ser919Pro)
|
rs4986764
|
0.61453
|
NM_001308093.3(GATA4):c.1000+56C>A
|
rs804280
|
0.61291
|
NM_207352.4(CYP4V2):c.775C>A (p.Gln259Lys)
|
rs13146272
|
0.60911
|
NM_004525.3(LRP2):c.12628A>C (p.Ile4210Leu)
|
rs4667591
|
0.60691
|
NM_001615.4(ACTG2):c.354A>G (p.Glu118=)
|
rs756128
|
0.60595
|
NM_017433.5(MYO3A):c.3937C>A (p.Arg1313Ser)
|
rs1999240
|
0.60118
|
NM_003190.5(TAPBP):c.779C>G (p.Thr260Arg)
|
rs2071888
|
0.59589
|
NM_000362.5(TIMP3):c.249T>C (p.His83=)
|
rs9862
|
0.59578
|
NM_182961.4(SYNE1):c.11734-5T>G
|
rs9478320
|
0.59305
|
NM_004070.4(CLCNKA):c.247A>G (p.Arg83Gly)
|
rs10927887
|
0.59220
|
NM_002449.5(MSX2):c.380-164G>A
|
rs4867776
|
0.58905
|
NM_003632.3(CNTNAP1):c.151A>C (p.Arg51=)
|
rs2271029
|
0.58855
|
NM_000252.3(MTM1):c.1260+3G>A
|
rs222410
|
0.58566
|
NM_207346.3(TSEN54):c.1041G>C (p.Lys347Asn)
|
rs9911502
|
0.58492
|
NM_206933.4(USH2A):c.10232A>C (p.Glu3411Ala)
|
rs10864198
|
0.58403
|
NM_001048166.1(STIL):c.257C>T (p.Ala86Val)
|
rs3125630
|
0.58260
|
NM_024996.7(GFM1):c.643G>A (p.Val215Ile)
|
rs2303909
|
0.58201
|
NM_018668.5(VPS33B):c.1540G>A (p.Gly514Ser)
|
rs11073964
|
0.58143
|
NM_020166.5(MCCC1):c.1391A>C (p.His464Pro)
|
rs2270968
|
0.58081
|
NM_052845.4(MMAB):c.716T>A (p.Met239Lys)
|
rs9593
|
0.57816
|
NM_001270974.2(HYDIN):c.6917A>G (p.Glu2306Gly)
|
rs2502726
|
0.57263
|
NM_001002255.2(SUMO4):c.163G>A (p.Val55Met)
|
rs237025
|
0.57192
|
NM_020822.3(KCNT1):c.600+59A>C
|
rs59909130
|
0.57178
|
NM_001278064.2(GRM1):c.2977T>C (p.Ser993Pro)
|
rs6923492
|
0.56892
|
NM_000382.3(ALDH3A2):c.1446A>T (p.Ala482=)
|
rs7216
|
0.56713
|
NM_031935.3(HMCN1):c.8678A>G (p.Glu2893Gly)
|
rs10798035
|
0.56453
|
NM_003970.4(MYOM2):c.2606G>A (p.Ser869Asn)
|
rs968381
|
0.56448
|
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg)
|
rs1061472
|
0.54674
|
NM_207391.3(RGS9BP):c.286G>T (p.Ala96Ser)
|
rs259290
|
0.54611
|
NM_015559.3(SETBP1):c.540+7422_540+7423insTCTT
|
rs3085861
|
0.54222
|
NM_020812.4(DOCK6):c.749C>T (p.Pro250Leu)
|
rs12978266
|
0.53878
|
NM_030653.4(DDX11):c.2572G>A (p.Val858Ile)
|
rs1046457
|
0.53816
|
NM_004035.7(ACOX1):c.936C>G (p.Ile312Met)
|
rs1135640
|
0.53769
|
NM_152783.5(D2HGDH):c.854-1200C>T
|
rs35386923
|
0.53647
|
NM_001303.4(COX10):c.504G>A (p.Leu168=)
|
rs2159132
|
0.53492
|
NM_031935.3(HMCN1):c.7253T>C (p.Ile2418Thr)
|
rs12129650
|
0.53397
|
NM_001793.6(CDH3):c.2239C>A (p.Arg747=)
|
rs17715450
|
0.53279
|
NM_021828.5(HPSE2):c.1736A>T (p.Tyr579Phe)
|
rs10883100
|
0.53113
|
NM_030653.4(DDX11):c.1699C>G (p.Gln567Glu)
|
rs2075322
|
0.52892
|
NM_001985.3(ETFB):c.461C>T (p.Thr154Met)
|
rs1130426
|
0.52772
|
NM_198525.3(KIF7):c.2873G>T (p.Ser958Ile)
|
rs3803530
|
0.52464
|
NM_002470.4(MYH3):c.349-76T>C
|
rs71360285
|
0.52372
|
NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala)
|
rs214976
|
0.52364
|
NM_178161.3(PTF1A):c.787T>C (p.Ser263Pro)
|
rs7918487
|
0.51842
|
NM_017433.5(MYO3A):c.2867G>A (p.Ser956Asn)
|
rs3758449
|
0.51636
|
NM_005228.5(EGFR):c.2361G>A (p.Gln787=)
|
rs1050171
|
0.51617
|
NM_000146.4(FTL):c.163T>C (p.Leu55=)
|
rs2230267
|
0.51379
|
NM_020822.3(KCNT1):c.600+60G>A
|
rs56375931
|
0.51258
|
NM_000104.4(CYP1B1):c.1294C>G (p.Leu432Val)
|
rs1056836
|
0.51254
|
NM_001377142.1(PLCB4):c.61G>A (p.Ala21Thr)
|
rs6077510
|
0.50724
|
NM_020442.6(VARS2):c.1345T>C (p.Trp449Arg)
|
rs2249464
|
0.50569
|
NM_004208.4(AIFM1):c.273T>C (p.Asp91=)
|
rs1139851
|
0.50355
|
NM_130837.3(OPA1):c.473G>A (p.Ser158Asn)
|
rs7624750
|
0.50224
|
NM_001854.4(COL11A1):c.3968C>T (p.Pro1323Leu)
|
rs3753841
|
0.50032
|
NM_206933.4(USH2A):c.6506T>C (p.Ile2169Thr)
|
rs10864219
|
0.50009
|
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr)
|
rs398607
|
0.49946
|
NM_007348.4(ATF6):c.1434-3T>A
|
rs2257107
|
0.48568
|
NM_153676.4(USH1C):c.2457G>C (p.Glu819Asp)
|
rs1064074
|
0.48497
|
NM_025137.4(SPG11):c.1388T>C (p.Phe463Ser)
|
rs3759871
|
0.48431
|
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser)
|
rs743616
|
0.48362
|
NM_001946.4(DUSP6):c.340G>T (p.Val114Leu)
|
rs2279574
|
0.48185
|
NM_005677.4(COLQ):c.718-1383G>C
|
rs878945
|
0.47746
|
NM_000493.4(COL10A1):c.80T>C (p.Met27Thr)
|
rs1064583
|
0.47609
|
NM_173500.4(TTBK2):c.23T>C (p.Leu8Pro)
|
rs6493068
|
0.47359
|
NM_199242.3(UNC13D):c.2599A>G (p.Lys867Glu)
|
rs1135688
|
0.47045
|
NM_001206744.2(TPO):c.2173A>C (p.Thr725Pro)
|
rs732609
|
0.46998
|
NM_001851.6(COL9A1):c.1015T>C (p.Ser339Pro)
|
rs592121
|
0.46927
|
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met)
|
rs2229813
|
0.46716
|
NM_020964.3(EPG5):c.3173T>C (p.Val1058Ala)
|
rs3744998
|
0.46686
|
NM_001101362.3(KBTBD13):c.242C>T (p.Ala81Val)
|
rs2919358
|
0.46622
|
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val)
|
rs1055138
|
0.46276
|
NM_001849.4(COL6A2):c.2039G>A (p.Arg680His)
|
rs1042917
|
0.45419
|
NM_007374.3(SIX6):c.421C>A (p.His141Asn)
|
rs33912345
|
0.45414
|
NM_014049.5(ACAD9):c.379A>C (p.Arg127=)
|
rs1680778
|
0.45398
|
NM_001370298.3(FGD4):c.42C>G (p.Ile14Met)
|
rs2651369
|
0.45332
|
NM_001482.3(GATM):c.330A>T (p.Gln110His)
|
rs1288775
|
0.45330
|
NM_003070.5(SMARCA2):c.4253+40G>C
|
rs3793511
|
0.45181
|
NM_005215.4(DCC):c.601C>G (p.Arg201Gly)
|
rs2229080
|
0.45169
|
NM_032119.4(ADGRV1):c.17626G>A (p.Val5876Ile)
|
rs2247870
|
0.45079
|
NM_001202.6(BMP4):c.455T>C (p.Val152Ala)
|
rs17563
|
0.44424
|
NM_001031710.3(KLHL7):c.352C>T (p.Leu118=)
|
rs15775
|
0.44258
|
NM_015311.3(OBSL1):c.5300G>A (p.Arg1767Gln)
|
rs59332477
|
0.43789
|
NM_133459.4(CCBE1):c.266-104C>T
|
rs650033
|
0.43621
|
NM_207361.6(FREM2):c.3209T>C (p.Phe1070Ser)
|
rs2496425
|
0.43515
|
NM_007347.5(AP4E1):c.487T>C (p.Cys163Arg)
|
rs2306331
|
0.43394
|
NM_001025295.3(IFITM5):c.80G>C (p.Gly27Ala)
|
rs57285449
|
0.43349
|
NM_006005.3(WFS1):c.1832G>A (p.Arg611His)
|
rs734312
|
0.43085
|
NM_001844.5(COL2A1):c.2194-55T>C
|
rs3829737
|
0.43071
|
NM_002451.4(MTAP):c.166G>A (p.Val56Ile)
|
rs7023954
|
0.42302
|
NM_001253852.3(AP4B1):c.1439T>C (p.Leu480Ser)
|
rs1217401
|
0.42071
|
NM_000375.3(UROS):c.-219C>A
|
rs4385801
|
0.41780
|
NM_001211.6(BUB1B):c.2679-97A>G
|
rs2290551
|
0.41699
|
NM_000414.4(HSD17B4):c.1675A>G (p.Ile559Val)
|
rs11205
|
0.41131
|
NM_004608.4(TBX6):c.-49+34G>T
|
rs3809627
|
0.40816
|
NM_000186.4(CFH):c.184G>A (p.Val62Ile)
|
rs800292
|
0.40446
|
NM_172095.4(CATSPER2):c.1179-2A>T
|
rs7169097
|
0.39868
|
NM_172095.4(CATSPER2):c.1179-3A>C
|
rs199882327
|
0.39865
|
NM_031935.3(HMCN1):c.13310A>G (p.Gln4437Arg)
|
rs10911825
|
0.39391
|
NM_006204.4(PDE6C):c.808T>A (p.Ser270Thr)
|
rs701865
|
0.39072
|
NM_018418.5(SPATA7):c.220G>A (p.Val74Met)
|
rs3179969
|
0.39047
|
NM_001167.4(XIAP):c.1268A>C (p.Gln423Pro)
|
rs5956583
|
0.38953
|
NM_144508.5(KNL1):c.2583T>G (p.Thr861=)
|
rs8041534
|
0.38951
|
NM_014324.6(AMACR):c.524G>A (p.Gly175Asp)
|
rs10941112
|
0.38660
|
NM_000512.5(GALNS):c.120+1532G>C
|
rs34150867
|
0.38226
|
NM_001080508.3(TBX18):c.142G>A (p.Gly48Arg)
|
rs172562
|
0.38125
|
NM_001378454.1(ALMS1):c.6854G>C (p.Arg2285Pro)
|
rs6546839
|
0.38002
|
NM_005076.5(CNTN2):c.1097C>T (p.Pro366Leu)
|
rs2229866
|
0.36917
|
NM_003322.6(TULP1):c.776T>C (p.Ile259Thr)
|
rs2064317
|
0.36637
|
NM_022153.2(VSIR):c.20T>C (p.Leu7Pro)
|
rs3747862
|
0.36326
|
NM_001122769.3(LCA5):c.1967G>A (p.Gly656Asp)
|
rs1875845
|
0.36167
|
NM_030665.4(RAI1):c.840del (p.Gln280fs)
|
rs34083643
|
0.35741
|
NM_194248.3(OTOF):c.244C>T (p.Arg82Cys)
|
rs13031859
|
0.35740
|
NM_000545.8(HNF1A):c.79A>C (p.Ile27Leu)
|
rs1169288
|
0.35489
|
NM_024334.3(TMEM43):c.536T>C (p.Met179Thr)
|
rs2340917
|
0.35127
|
NM_153700.2(STRC):c.179T>C (p.Phe60Ser)
|
rs2729509
|
0.34286
|
NM_015443.4(KANSL1):c.3029C>T (p.Pro1010Leu)
|
rs7220988
|
0.34127
|
NM_014845.6(FIG4):c.1961T>C (p.Val654Ala)
|
rs9885672
|
0.33924
|
NM_001243133.2(NLRP3):c.277+83_277+85del
|
rs368835809
|
0.33560
|
NM_000311.5(PRNP):c.385A>G (p.Met129Val)
|
rs1799990
|
0.33516
|
NM_000159.4(GCDH):c.*288G>T
|
rs9384
|
0.33464
|
NM_022167.4(XYLT2):c.2402C>G (p.Thr801Arg)
|
rs6504649
|
0.33080
|
NM_144670.6(A2ML1):c.3364C>T (p.Arg1122Trp)
|
rs1860967
|
0.33038
|
NM_177924.5(ASAH1):c.382+84C>A
|
rs115973081
|
0.32897
|
NM_004287.5(GOSR2):c.200G>A (p.Arg67Lys)
|
rs197922
|
0.32616
|
NM_181741.4(ORC4):c.233A>G (p.Asn78Ser)
|
rs2307394
|
0.32301
|
NM_181503.3(EXOSC8):c.321G>A (p.Gln107=)
|
rs1127446
|
0.32239
|
NM_001143992.2(WRAP53):c.202C>G (p.Arg68Gly)
|
rs2287499
|
0.32078
|
NM_002693.3(POLG):c.3105-36A>G
|
rs2246900
|
0.31986
|
NM_014270.5(SLC7A9):c.667C>A (p.Leu223Met)
|
rs1007160
|
0.31956
|
NM_020779.4(WDR35):c.2915A>G (p.Glu972Gly)
|
rs1191778
|
0.31383
|
NM_000535.7(PMS2):c.2570G>C (p.Gly857Ala)
|
rs1802683
|
0.30966
|
NM_000159.4(GCDH):c.852+223C>T
|
rs11085825
|
0.30906
|
NM_014112.5(TRPS1):c.-9dup
|
rs35329862
|
0.30691
|
NM_005050.4(ABCD4):c.184T>C (p.Leu62=)
|
rs2301345
|
0.29779
|
NM_001377.3(DYNC2H1):c.11039C>T (p.Ala3680Val)
|
rs10895391
|
0.29753
|
NM_004407.4(DMP1):c.205A>T (p.Ser69Cys)
|
rs10019009
|
0.29735
|
NM_000158.4(GBE1):c.568A>G (p.Arg190Gly)
|
rs2229519
|
0.29724
|
NM_203486.3(DLL3):c.515T>G (p.Phe172Cys)
|
rs8107127
|
0.29570
|
NM_018475.5(TMEM165):c.*2_*3del
|
rs35154686
|
0.29449
|
NM_020436.5(SALL4):c.1520T>G (p.Leu507Arg)
|
rs6126344
|
0.29053
|
NM_024740.2(ALG9):c.865G>A (p.Val289Ile)
|
rs10502151
|
0.28588
|
NM_024666.5(AAGAB):c.394A>C (p.Ile132Leu)
|
rs7173826
|
0.28536
|
NM_022124.6(CDH23):c.6130G>A (p.Glu2044Lys)
|
rs10466026
|
0.28442
|
NM_001174147.2(LMX1B):c.326+7G>C
|
rs1336980
|
0.28269
|
NM_014679.5(CEP57):c.1342A>G (p.Arg448Gly)
|
rs644799
|
0.28044
|
NM_178857.6(RP1L1):c.4019A>G (p.Glu1340Gly)
|
rs9657518
|
0.28032
|
NM_000110.4(DPYD):c.85T>C (p.Cys29Arg)
|
rs1801265
|
0.27966
|
NM_020442.6(VARS2):c.2038G>T (p.Val680Leu)
|
rs2074506
|
0.27888
|
NM_022124.6(CDH23):c.7139C>T (p.Pro2380Leu)
|
rs4747195
|
0.27841
|
NM_199355.4(ADAMTS18):c.571T>C (p.Tyr191His)
|
rs11643211
|
0.27809
|
NM_016156.6(MTMR2):c.8A>C (p.Lys3Thr)
|
rs3824874
|
0.27654
|
NM_000140.5(FECH):c.68-23C>T
|
rs2269219
|
0.27629
|
NM_018127.7(ELAC2):c.650C>T (p.Ser217Leu)
|
rs4792311
|
0.27559
|
NM_144991.3(TSPEAR):c.303+9076A>G
|
rs452472
|
0.27108
|
NM_001128228.3(TPRN):c.559G>T (p.Ala187Ser)
|
rs9411313
|
0.27092
|
NM_001290043.2(TAP2):c.2059T>C (p.Ter687Gln)
|
rs241448
|
0.26784
|
NM_001134793.2(HYLS1):c.91T>C (p.Cys31Arg)
|
rs667782
|
0.26652
|
NM_000400.4(ERCC2):c.934G>A (p.Asp312Asn)
|
rs1799793
|
0.26310
|
NM_004608.4(TBX6):c.1227G>A (p.Pro409=)
|
rs2289292
|
0.26284
|
NM_003640.5(ELP1):c.2294G>A (p.Gly765Glu)
|
rs2230792
|
0.26279
|
NM_001164508.2(NEB):c.10809G>C (p.Trp3603Cys)
|
rs10172023
|
0.26237
|
NM_139285.4(GAS2L2):c.1961C>T (p.Ala654Val)
|
rs3744374
|
0.25886
|
NM_005957.5(MTHFR):c.1286A>C (p.Glu429Ala)
|
rs1801131
|
0.25830
|
NM_001290043.2(TAP2):c.1993A>G (p.Thr665Ala)
|
rs241447
|
0.25756
|
NM_001023570.4(IQCB1):c.1301G>A (p.Cys434Tyr)
|
rs17849995
|
0.25469
|
NM_001853.4(COL9A3):c.1304C>A (p.Ala435Glu)
|
rs751557
|
0.25404
|
NM_020702.5(MYORG):c.69C>G (p.Tyr23Ter)
|
rs4879782
|
0.25379
|
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln)
|
rs34787999
|
0.25357
|
NM_001003841.3(SLC6A19):c.1017-4G>A
|
rs35329108
|
0.25295
|
NM_001365276.2(TNXB):c.12170A>T (p.Asn4057Ile)
|
rs17421133
|
0.25264
|
NM_004168.4(SDHA):c.1908+90A>G
|
rs6888536
|
0.25155
|
NM_004044.7(ATIC):c.347C>G (p.Thr116Ser)
|
rs2372536
|
0.24863
|
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg)
|
rs1805124
|
0.24768
|
NM_014694.4(ADAMTSL2):c.1090G>A (p.Val364Ile)
|
rs35767802
|
0.24762
|
NM_000747.3(CHRNB1):c.95A>G (p.Glu32Gly)
|
rs17856697
|
0.24673
|
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr)
|
rs1042602
|
0.24593
|
NM_000052.7(ATP7A):c.2299G>C (p.Val767Leu)
|
rs2227291
|
0.24533
|
NM_014625.4(NPHS2):c.-51G>T
|
rs12406197
|
0.23878
|
NM_000127.3(EXT1):c.1065C>T (p.Cys355=)
|
rs11546829
|
0.23625
|
NM_000070.3(CAPN3):c.706G>A (p.Ala236Thr)
|
rs1801449
|
0.23274
|
NM_004285.4(H6PD):c.745+88T>A
|
rs12032814
|
0.23253
|
NM_000340.2(SLC2A2):c.329C>T (p.Thr110Ile)
|
rs5400
|
0.23124
|
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His)
|
rs144848
|
0.23116
|
NM_001171.6(ABCC6):c.3803G>A (p.Arg1268Gln)
|
rs2238472
|
0.22903
|
NM_177438.3(DICER1):c.1907+105C>T
|
rs2275182
|
0.22841
|
NM_001384140.1(PCDH15):c.1138G>A (p.Gly380Ser)
|
rs10825269
|
0.22813
|
NM_020442.6(VARS2):c.2750G>A (p.Arg917Gln)
|
rs9394021
|
0.22711
|
NM_001142864.4(PIEZO1):c.4193C>T (p.Pro1398Leu)
|
rs11645197
|
0.22515
|
NM_001254.4(CDC6):c.1321G>A (p.Val441Ile)
|
rs13706
|
0.22496
|
NM_000553.6(WRN):c.4099T>C (p.Cys1367Arg)
|
rs1346044
|
0.22492
|
NM_001382430.1(AKT1):c.726G>A (p.Glu242=)
|
rs1130233
|
0.22241
|
NM_004836.7(EIF2AK3):c.407C>G (p.Ser136Cys)
|
rs867529
|
0.22211
|
NM_005559.4(LAMA1):c.4729T>G (p.Ser1577Ala)
|
rs12961939
|
0.21927
|
NM_003640.5(ELP1):c.3214T>A (p.Cys1072Ser)
|
rs3204145
|
0.21876
|
NM_020366.4(RPGRIP1):c.1639G>T (p.Ala547Ser)
|
rs10151259
|
0.21790
|
NM_004168.4(SDHA):c.1908+85G>A
|
rs6864807
|
0.21789
|
NM_001291303.3(FAT4):c.10577G>A (p.Gly3526Asp)
|
rs1567047
|
0.21721
|
NM_007348.4(ATF6):c.199A>G (p.Met67Val)
|
rs1058405
|
0.21366
|
NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu)
|
rs6720173
|
0.21159
|
NM_004006.3(DMD):c.7096A>C (p.Lys2366Gln)
|
rs1800275
|
0.21153
|
NM_173660.5(DOK7):c.1382G>A (p.Gly461Asp)
|
rs9684786
|
0.20663
|
NM_030957.4(ADAMTS10):c.401G>C (p.Ser134Thr)
|
rs7255721
|
0.20500
|
NM_005559.4(LAMA1):c.2021A>C (p.Asn674Thr)
|
rs566655
|
0.20323
|
NM_025000.4(DCAF17):c.322-14C>T
|
rs192861143
|
0.20151
|
NM_000180.4(GUCY2D):c.2345T>A (p.Leu782His)
|
rs8069344
|
0.20071
|
NM_022124.6(CDH23):c.1469G>C (p.Gly490Ala)
|
rs1227049
|
0.20047
|
NM_001384140.1(PCDH15):c.5156A>C (p.Gln1719Pro)
|
rs17704703
|
0.20017
|
NM_001018115.3(FANCD2):c.1122A>G (p.Val374=)
|
rs34046352
|
0.19892
|
NM_014336.5(AIPL1):c.268G>C (p.Asp90His)
|
rs12449580
|
0.19586
|
NM_015404.4(WHRN):c.1318G>A (p.Ala440Thr)
|
rs4978584
|
0.19569
|
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu)
|
rs3864017
|
0.19295
|
NM_207346.3(TSEN54):c.114T>G (p.His38Gln)
|
rs8079373
|
0.19277
|
NM_015404.4(WHRN):c.2388C>A (p.Asn796Lys)
|
rs2274158
|
0.19185
|
NM_206933.4(USH2A):c.11504C>T (p.Thr3835Ile)
|
rs11120616
|
0.19146
|
NM_170707.4(LMNA):c.357-739T>G
|
rs513043
|
0.18886
|
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu)
|
rs1042821
|
0.18742
|
NM_170784.3(MKKS):c.986-29A>T
|
rs764266
|
0.18492
|
NM_004168.4(SDHA):c.1969G>A (p.Val657Ile)
|
rs6962
|
0.18133
|
NM_178857.6(RP1L1):c.665A>C (p.His222Pro)
|
rs4388421
|
0.17875
|
NM_005866.4(SIGMAR1):c.5A>C (p.Gln2Pro)
|
rs1800866
|
0.17661
|
NM_014215.3(INSRR):c.2783C>T (p.Pro928Leu)
|
rs56252149
|
0.17587
|
NM_005708.5(GPC6):c.1234G>A (p.Val412Met)
|
rs1535692
|
0.17412
|
NM_003896.4(ST3GAL5):c.311A>G (p.His104Arg)
|
rs1138484
|
0.17151
|
NM_001999.4(FBN2):c.952+4177C>T
|
rs13180243
|
0.16937
|
NM_000493.4(COL10A1):c.1633G>C (p.Gly545Arg)
|
rs2228547
|
0.16401
|
NM_203288.2(RP9):c.629A>G (p.Lys210Arg)
|
rs150987618
|
0.16255
|
NM_001384140.1(PCDH15):c.1304A>C (p.Asp435Ala)
|
rs4935502
|
0.15952
|
NM_014236.4(GNPAT):c.1556A>G (p.Asp519Gly)
|
rs11558492
|
0.15938
|
NM_000098.3(CPT2):c.1939A>G (p.Met647Val)
|
rs1799822
|
0.15237
|
NM_001393392.1(AKR1C2):c.441A>G (p.Thr147=)
|
rs3207909
|
0.15144
|
NM_006214.4(PHYH):c.85C>T (p.Pro29Ser)
|
rs28938169
|
0.15001
|
NM_004994.3(MMP9):c.649+3G>T
|
rs2274755
|
0.14987
|
NM_032119.4(ADGRV1):c.9743G>A (p.Gly3248Asp)
|
rs16869032
|
0.14695
|
NM_001377265.1(MAPT):c.1564T>C (p.Ser522Pro)
|
rs10445337
|
0.14666
|
NM_002843.4(PTPRJ):c.827A>C (p.Gln276Pro)
|
rs1566734
|
0.14574
|
NM_014208.3(DSPP):c.202A>T (p.Arg68Trp)
|
rs36094464
|
0.14530
|
NM_001377265.1(MAPT):c.1333C>T (p.Arg445Trp)
|
rs17651549
|
0.14348
|
NM_001142864.4(PIEZO1):c.2992-23A>G
|
rs76070043
|
0.14300
|
NM_139285.4(GAS2L2):c.491C>T (p.Ala164Val)
|
rs11654604
|
0.14243
|
NM_002448.3(MSX1):c.119C>G (p.Ala40Gly)
|
rs36059701
|
0.14189
|
NM_022124.6(CDH23):c.5411G>A (p.Arg1804Gln)
|
rs3802711
|
0.14136
|
NM_201548.5(CERKL):c.895+3A>G
|
rs12623687
|
0.13988
|
NM_001365304.2(LOC112694756):c.*1508+17G>T
|
rs2071390
|
0.13976
|
NM_001098484.3(SLC4A4):c.1904-74_1904-73insGGTT
|
rs773069537
|
0.12949
|
NM_005148.4(UNC119):c.*1C>T
|
rs2070139
|
0.12907
|
NM_001853.4(COL9A3):c.50G>A (p.Gly17Glu)
|
rs2294984
|
0.12823
|
NM_005548.3(KARS1):c.1784C>G (p.Thr595Ser)
|
rs6834
|
0.12646
|
NM_004281.4(BAG3):c.1220C>T (p.Pro407Leu)
|
rs3858340
|
0.12393
|
NM_001369268.1(ACAN):c.824G>A (p.Arg275Gln)
|
rs34949187
|
0.11995
|
NM_001378183.1(PIEZO2):c.6488C>A (p.Ala2163Asp)
|
rs113682091
|
0.11487
|
NM_001379500.1(COL18A1):c.2683+702G>A
|
rs114832456
|
0.11163
|
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn)
|
rs1801516
|
0.10783
|
NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val)
|
rs3736228
|
0.10701
|
NM_012210.4(TRIM32):c.1254G>A (p.Val418=)
|
rs1661300
|
0.10569
|
NM_001077418.3(TMEM231):c.16C>G (p.Leu6Val)
|
rs3743601
|
0.10494
|
NM_000251.2(MSH2):c.-118T>C
|
rs2303425
|
0.10354
|
NM_004183.4(BEST1):c.219C>A (p.Ile73=)
|
rs1109748
|
0.10271
|
NM_020921.4(NIN):c.5800C>G (p.Gln1934Glu)
|
rs2295847
|
0.10087
|
NM_000492.4(CFTR):c.1210-13G>T
|
rs10229820
|
0.09791
|
NM_001033855.3(DCLRE1C):c.512C>G (p.Pro171Arg)
|
rs35441642
|
0.09351
|
NM_015404.4(WHRN):c.1684C>G (p.Pro562Ala)
|
rs12339210
|
0.09351
|
NM_020632.3(ATP6V0A4):c.1739T>C (p.Met580Thr)
|
rs3807153
|
0.09195
|
NM_000251.3(MSH2):c.1511-9A>T
|
rs12998837
|
0.09123
|
NM_000388.4(CASR):c.2968A>G (p.Arg990Gly)
|
rs1042636
|
0.08688
|
NM_000498.3(CYP11B2):c.1157T>C (p.Val386Ala)
|
rs61757294
|
0.08654
|
NM_006063.3(KLHL41):c.811G>A (p.Ala271Thr)
|
rs28763868
|
0.08132
|
NM_000602.5(SERPINE1):c.43G>A (p.Ala15Thr)
|
rs6092
|
0.07905
|
NM_001379500.1(COL18A1):c.2117C>G (p.Pro706Arg)
|
rs79980197
|
0.07777
|
NM_001378615.1(CC2D2A):c.156C>T (p.Ser52=)
|
rs1861050
|
0.07770
|
NM_001395413.1(POR):c.6A>G (p.Gly2=)
|
rs10262966
|
0.07713
|
NM_001605.3(AARS1):c.671+3A>G
|
rs74024185
|
0.07668
|
NM_001605.3(AARS1):c.824G>A (p.Gly275Asp)
|
rs11537667
|
0.07667
|
NM_139285.4(GAS2L2):c.1618G>A (p.Ala540Thr)
|
rs12602590
|
0.07564
|
NM_020461.4(TUBGCP6):c.5287C>T (p.Arg1763Trp)
|
rs35381394
|
0.07476
|
NM_000287.4(PEX6):c.2426C>T (p.Ala809Val)
|
rs35830695
|
0.07353
|
NM_024675.4(PALB2):c.3113+1376C>G
|
rs369444
|
0.07316
|
NM_005259.3(MSTN):c.458A>G (p.Lys153Arg)
|
rs1805086
|
0.07270
|
NM_153717.3(EVC):c.1328G>A (p.Arg443Gln)
|
rs35953626
|
0.07232
|
NM_000355.4(TCN2):c.643C>T (p.Arg215Trp)
|
rs35838082
|
0.07162
|
NM_000155.4(GALT):c.940A>G (p.Asn314Asp)
|
rs2070074
|
0.07150
|
NM_207346.3(TSEN54):c.3_8dup (p.2_3EP[4])
|
rs398124622
|
0.06994
|
NM_001386393.1(PANK2):c.2T>A
|
rs71647828
|
0.06976
|
NM_020208.4(SLC6A20):c.596C>T (p.Thr199Met)
|
rs17279437
|
0.06722
|
NM_003661.4(APOL1):c.1152T>G (p.Ile384Met)
|
rs60910145
|
0.06710
|
NM_194277.3(FRMD7):c.842C>T (p.Ser281Leu)
|
rs5977625
|
0.06625
|
NM_022437.3(ABCG8):c.55G>C (p.Asp19His)
|
rs11887534
|
0.06566
|
NM_152564.5(VPS13B):c.9331-2A>T
|
rs74485751
|
0.06492
|
NM_007144.3(PCGF2):c.210-8T>C
|
rs72819704
|
0.06015
|
NM_000031.6(ALAD):c.177G>C (p.Lys59Asn)
|
rs1800435
|
0.05916
|
NM_014915.3(ANKRD26):c.-140C>G
|
rs41299222
|
0.05835
|
NM_004369.4(COL6A3):c.3262A>C (p.Lys1088Gln)
|
rs11896521
|
0.05751
|
NM_005491.5(MAMLD1):c.1514T>C (p.Val505Ala)
|
rs61740566
|
0.05698
|
NM_020779.4(WDR35):c.2599G>A (p.Ala867Thr)
|
rs2293669
|
0.05563
|
NM_025114.4(CEP290):c.2512A>G (p.Lys838Glu)
|
rs11104738
|
0.05247
|
NM_000325.6(PITX2):c.*454C>T
|
rs6533526
|
0.05143
|
NM_000487.6(ARSA):c.*96A>G
|
rs6151429
|
0.05120
|
NM_014714.4(IFT140):c.3209C>T (p.Ala1070Val)
|
rs2235638
|
0.05119
|
NM_014855.3(AP5Z1):c.1124T>A (p.Leu375Gln)
|
rs11772411
|
0.05021
|
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu)
|
rs5036
|
0.05002
|
NM_197947.3(CLEC7A):c.714T>G (p.Tyr238Ter)
|
rs16910526
|
0.04986
|
NM_006343.3(MERTK):c.844G>A (p.Ala282Thr)
|
rs7588635
|
0.04692
|
NM_024864.5(MRM1):c.359G>C (p.Cys120Ser)
|
rs78943308
|
0.04685
|
NM_002661.5(PLCG2):c.802C>T (p.Arg268Trp)
|
rs1143687
|
0.04677
|
NM_001142446.2(ANK1):c.127-39509T>C
|
rs77173848
|
0.04675
|
NM_003690.5(PRKRA):c.1A>C (p.Met1Leu)
|
rs9406386
|
0.04659
|
NM_000155.4(GALT):c.378-27G>C
|
rs41274865
|
0.04615
|
NM_000155.4(GALT):c.508-24G>A
|
rs41274867
|
0.04612
|
NM_012082.4(ZFPM2):c.1969A>G (p.Ser657Gly)
|
rs28374544
|
0.04474
|
NM_001195129.2(PRSS56):c.1795C>G (p.Pro599Ala)
|
rs61744404
|
0.04318
|
NM_000052.7(ATP7A):c.-21-2239C>T
|
rs62621209
|
0.04187
|
NM_000022.2(ADA):c.22G>A (p.Asp8Asn)
|
rs73598374
|
0.04175
|
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu)
|
rs45583140
|
0.04021
|
NM_001349232.2(ATG7):c.1412T>C (p.Val471Ala)
|
rs36117895
|
0.03931
|
NM_139285.4(GAS2L2):c.2485C>T (p.Arg829Trp)
|
rs56386706
|
0.03918
|
NM_002283.4(KRT85):c.233G>A (p.Arg78His)
|
rs61630004
|
0.03613
|
NM_003872.3(NRP2):c.368A>G (p.Lys123Arg)
|
rs849541
|
0.03492
|
NM_001126108.2(SLC12A3):c.2755C>T (p.Arg919Cys)
|
rs12708965
|
0.03475
|
NM_001308.3(CPN1):c.533G>A (p.Gly178Asp)
|
rs61751507
|
0.03433
|
NM_003126.4(SPTA1):c.2909C>A (p.Ala970Asp)
|
rs35948326
|
0.03419
|
NM_001061.7(TBXAS1):c.1066C>G (p.Leu356Val)
|
rs4529
|
0.03380
|
NM_001710.6(CFB):c.26T>A (p.Leu9His)
|
rs4151667
|
0.03314
|
NM_000063.6(C2):c.954G>C (p.Glu318Asp)
|
rs9332739
|
0.03307
|
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp)
|
rs1800556
|
0.03280
|
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser)
|
rs61735045
|
0.03116
|
NM_018127.7(ELAC2):c.1621G>A (p.Ala541Thr)
|
rs5030739
|
0.02886
|
NM_000531.6(OTC):c.809A>G (p.Gln270Arg)
|
rs1800328
|
0.02868
|
NM_000067.3(CA2):c.754A>G (p.Asn252Asp)
|
rs2228063
|
0.02817
|
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile)
|
rs34526199
|
0.02732
|
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val)
|
rs35077384
|
0.02717
|
NM_001083116.3(PRF1):c.11G>A (p.Arg4His)
|
rs35418374
|
0.02616
|
NM_000618.5(IGF1):c.*263T>A
|
rs70961704
|
0.02615
|
NM_000053.4(ATP7B):c.3045G>A (p.Leu1015=)
|
rs1801248
|
0.02598
|
NM_052867.4(NALCN):c.2637-10T>G
|
rs16958350
|
0.02553
|
NM_005555.4(KRT6B):c.1495G>A (p.Gly499Ser)
|
rs61746355
|
0.02504
|
NM_000051.4(ATM):c.6573-36C>T
|
rs759869598
|
0.02433
|
NM_001080413.3(NOBOX):c.349C>T (p.Arg117Trp)
|
rs7800847
|
0.02403
|
NM_173076.3(ABCA12):c.7093G>A (p.Asp2365Asn)
|
rs726070
|
0.02339
|
NM_001211.6(BUB1B):c.119C>T (p.Thr40Met)
|
rs56079734
|
0.02335
|
NM_000137.4(FAH):c.1021C>T (p.Arg341Trp)
|
rs11555096
|
0.02131
|
NM_000186.4(CFH):c.3176T>C (p.Ile1059Thr)
|
rs35343172
|
0.02118
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
NM_001040108.2(MLH3):c.2221G>T (p.Val741Phe)
|
rs28756990
|
0.02049
|
NM_000249.4(MLH1):c.1039-35A>T
|
rs867680022
|
0.02046
|
NM_001031710.3(KLHL7):c.121-5814A>G
|
rs17147682
|
0.02041
|
NM_001134831.2(AHI1):c.2488C>T (p.Arg830Trp)
|
rs13312995
|
0.02035
|
NM_000237.3(LPL):c.106G>A (p.Asp36Asn)
|
rs1801177
|
0.01951
|
NM_001393392.1(AKR1C2):c.666T>C (p.His222=)
|
rs13222
|
0.01890
|
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp)
|
rs2235000
|
0.01889
|
NM_000453.3(SLC5A5):c.-54C>T
|
rs112077649
|
0.01822
|
NM_000500.9(CYP21A2):c.*13G>A
|
rs6447
|
0.01770
|
NM_014694.4(ADAMTSL2):c.1261G>A (p.Gly421Ser)
|
rs752071055
|
0.01748
|
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser)
|
rs146934311
|
0.01744
|
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu)
|
rs45551636
|
0.01717
|
NM_001171.6(ABCC6):c.3190C>T (p.Arg1064Trp)
|
rs41278174
|
0.01708
|
NM_000176.3(NR3C1):c.66G>A (p.Glu22=)
|
rs6189
|
0.01685
|
NM_001174096.2(ZEB1):c.233A>C (p.Asn78Thr)
|
rs80194531
|
0.01629
|
NM_139027.6(ADAMTS13):c.1368G>T (p.Gln456His)
|
rs36220239
|
0.01611
|
NM_000552.5(VWF):c.5049A>C (p.Ala1683=)
|
rs79275181
|
0.01607
|
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp)
|
rs17472401
|
0.01606
|
NM_000275.3(OCA2):c.1113C>T (p.Gly371=)
|
rs1800405
|
0.01593
|
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly)
|
rs17592
|
0.01574
|
NM_020366.4(RPGRIP1):c.1793G>A (p.Arg598Gln)
|
rs74034910
|
0.01504
|
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu)
|
rs1800362
|
0.01494
|
NM_006790.3(MYOT):c.220C>A (p.Gln74Lys)
|
rs6890689
|
0.01460
|
NM_003105.6(SORL1):c.808G>A (p.Glu270Lys)
|
rs117260922
|
0.01456
|
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg)
|
rs1800057
|
0.01452
|
NM_001021.6(RPS17):c.327+80G>A
|
rs990557809
|
0.01433
|
NM_012186.3(FOXE3):c.146G>C (p.Gly49Ala)
|
rs566961335
|
0.01396
|
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile)
|
rs1799967
|
0.01348
|
NM_006950.3(SYN1):c.152C>G (p.Ala51Gly)
|
rs187134574
|
0.01317
|
NM_018392.5(ZGRF1):c.4087G>A (p.Glu1363Lys)
|
rs76187047
|
0.01292
|
NM_000077.5(CDKN2A):c.-25C>T
|
rs144481587
|
0.01273
|
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser)
|
rs5736
|
0.01206
|
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln)
|
rs4149584
|
0.01206
|
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr)
|
rs41313691
|
0.01184
|
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys)
|
rs45562031
|
0.01150
|
NM_000044.6(AR):c.1886-60G>A
|
rs146283342
|
0.01144
|
NM_000550.3(TYRP1):c.1557T>G (p.Tyr519Ter)
|
rs41302073
|
0.01144
|
NM_000458.4(HNF1B):c.-35A>C
|
rs1261496299
|
0.01134
|
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn)
|
rs4986852
|
0.01109
|
NM_001127649.3(PEX26):c.457C>G (p.Leu153Val)
|
rs12484657
|
0.01096
|
NM_178452.6(DNAAF1):c.1769C>T (p.Thr590Met)
|
rs34777958
|
0.01090
|
NM_001063.4(TF):c.1623-63del
|
rs8177291
|
0.01085
|
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr)
|
rs112239768
|
0.01081
|
NM_001142800.2(EYS):c.5044G>T (p.Asp1682Tyr)
|
rs75831552
|
0.01062
|
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=)
|
rs140587
|
0.01051
|
NM_172166.4(MSH5):c.1051C>G (p.Arg351Gly)
|
rs28399976
|
0.01049
|
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr)
|
rs145643112
|
0.01037
|
NM_001379610.1(SPINK1):c.200G>A (p.Arg67His)
|
rs35523678
|
0.01028
|
NM_000046.5(ARSB):c.98C>T (p.Ala33Val)
|
rs201168448
|
0.01022
|
NM_020366.4(RPGRIP1):c.2417C>T (p.Thr806Ile)
|
rs142796310
|
0.01022
|
NM_001846.4(COL4A2):c.3368A>G (p.Glu1123Gly)
|
rs117412802
|
0.01005
|
NM_032737.4(LMNB2):c.704G>A (p.Arg235Gln)
|
rs121912497
|
0.01005
|
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu)
|
rs9378252
|
0.00995
|
NM_001360.3(DHCR7):c.99-4G>A
|
rs140748737
|
0.00988
|
NM_000479.5(AMH):c.974A>G (p.Gln325Arg)
|
rs140765565
|
0.00966
|
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg)
|
rs41297018
|
0.00964
|
NM_005138.3(SCO2):c.776C>T (p.Ala259Val)
|
rs8139305
|
0.00949
|
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser)
|
rs3739168
|
0.00946
|
NM_001972.4(ELANE):c.655G>A (p.Val219Ile)
|
rs17216656
|
0.00945
|
NM_201384.3(PLEC):c.887G>A (p.Arg296Gln)
|
rs138924815
|
0.00931
|
NM_022042.4(SLC26A1):c.*878G>A
|
rs147498923
|
0.00924
|
NM_213599.3(ANO5):c.616A>G (p.Thr206Ala)
|
rs78266558
|
0.00922
|
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys)
|
rs2230180
|
0.00920
|
NM_000426.4(LAMA2):c.7431A>T (p.Arg2477Ser)
|
rs34367843
|
0.00914
|
NM_000245.4(MET):c.2975C>T (p.Thr992Ile)
|
rs56391007
|
0.00911
|
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg)
|
rs1800746
|
0.00889
|
NM_004369.4(COL6A3):c.6156+4C>T
|
rs111228504
|
0.00884
|
NM_206997.1(GPR152):c.181G>A (p.Gly61Arg)
|
rs79423227
|
0.00871
|
NM_001846.4(COL4A2):c.3448C>A (p.Gln1150Lys)
|
rs62621875
|
0.00869
|
NM_004183.4(BEST1):c.1474G>A (p.Val492Ile)
|
rs111326315
|
0.00867
|
NM_006949.4(STXBP2):c.1298C>T (p.Ala433Val)
|
rs141309384
|
0.00866
|
NM_003482.4(KMT2D):c.10192A>G (p.Met3398Val)
|
rs75937132
|
0.00847
|
NM_001162498.3(LPAR6):c.921G>T (p.Trp307Cys)
|
rs17071686
|
0.00841
|
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met)
|
rs121908147
|
0.00835
|
NM_004369.4(COL6A3):c.5261A>G (p.Lys1754Arg)
|
rs77632596
|
0.00808
|
NM_000327.4(ROM1):c.868del (p.Gln290fs)
|
rs548233813
|
0.00807
|
NM_004628.5(XPC):c.1001C>A (p.Pro334His)
|
rs74737358
|
0.00806
|
NM_213599.3(ANO5):c.2387C>T (p.Ser796Leu)
|
rs61910685
|
0.00804
|
NM_002900.3(RBP3):c.1037G>A (p.Arg346His)
|
rs111245635
|
0.00786
|
NM_203288.2(RP9):c.664del (p.Ter222AspextTer?)
|
rs553265417
|
0.00773
|
NM_006346.4(PIBF1):c.1214G>A (p.Arg405Gln)
|
rs17089782
|
0.00771
|
NM_206933.4(USH2A):c.6240G>T (p.Lys2080Asn)
|
rs114402911
|
0.00770
|
NM_002485.5(NBN):c.37+5G>A
|
rs116735828
|
0.00767
|
NM_000051.4(ATM):c.544G>C (p.Val182Leu)
|
rs3218707
|
0.00757
|
NM_000435.3(NOTCH3):c.1490C>T (p.Ser497Leu)
|
rs114207045
|
0.00755
|
NM_001384474.1(LOXHD1):c.4526G>A (p.Gly1509Glu)
|
rs187587197
|
0.00751
|
NM_001393500.2(TOMT):c.524G>A (p.Arg175Gln)
|
rs61741195
|
0.00743
|
NM_020297.4(ABCC9):c.3409G>A (p.Val1137Ile)
|
rs147895473
|
0.00739
|
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr)
|
rs12324002
|
0.00737
|
NM_005477.3(HCN4):c.2648C>G (p.Pro883Arg)
|
rs148398509
|
0.00737
|
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg)
|
rs72648927
|
0.00729
|
NM_001849.4(COL6A2):c.316G>A (p.Glu106Lys)
|
rs141703710
|
0.00717
|
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn)
|
rs143004808
|
0.00716
|
NM_002273.4(KRT8):c.160T>C (p.Tyr54His)
|
rs57749775
|
0.00715
|
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys)
|
rs41549716
|
0.00708
|
NM_001363711.2(DUOX2):c.2182G>A (p.Ala728Thr)
|
rs138353181
|
0.00700
|
NM_001387430.1(SH2B1):c.1988C>T (p.Ala663Val)
|
rs190981290
|
0.00699
|
NM_170665.4(ATP2A2):c.-10C>G
|
rs201929640
|
0.00698
|
NM_170665.4(ATP2A2):c.327A>G (p.Glu109=)
|
rs55984131
|
0.00696
|
NM_005148.4(UNC119):c.65G>T (p.Gly22Val)
|
rs199714731
|
0.00691
|
NM_001329943.3(KIAA0586):c.257T>C (p.Met86Thr)
|
rs74055693
|
0.00689
|
NM_000287.4(PEX6):c.1646C>T (p.Ala549Val)
|
rs115960224
|
0.00687
|
NM_001099271.2(POC5):c.1286C>T (p.Ala429Val)
|
rs146984380
|
0.00682
|
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg)
|
rs115045643
|
0.00681
|
NM_000098.3(CPT2):c.302C>T (p.Ala101Val)
|
rs75939866
|
0.00675
|
NM_001395656.1(ROBO2):c.1556A>T (p.Asn519Ile)
|
rs80051448
|
0.00662
|
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr)
|
rs75316802
|
0.00658
|
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser)
|
rs28763954
|
0.00654
|
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala)
|
rs28363317
|
0.00653
|
NM_139285.4(GAS2L2):c.1997T>C (p.Leu666Pro)
|
rs137860977
|
0.00648
|
NM_004415.4(DSP):c.*9T>A
|
rs11558732
|
0.00645
|
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr)
|
rs146578303
|
0.00633
|
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr)
|
rs74653330
|
0.00630
|
NM_199242.3(UNC13D):c.753+3G>A
|
rs116229331
|
0.00627
|
NM_005529.7(HSPG2):c.3056C>T (p.Pro1019Leu)
|
rs62642528
|
0.00626
|
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys)
|
rs1800100
|
0.00625
|
NM_001204.7(BMPR2):c.-669G>A
|
rs115604088
|
0.00624
|
NM_000132.4(F8):c.266-19G>A
|
rs28370201
|
0.00623
|
NM_000321.3(RB1):c.1574C>G (p.Ala525Gly)
|
rs4151539
|
0.00623
|
NM_000204.5(CFI):c.1217G>A (p.Arg406His)
|
rs74817407
|
0.00599
|
NM_001195248.2(APTX):c.596G>A (p.Arg199His)
|
rs150886026
|
0.00598
|
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter)
|
rs11571833
|
0.00597
|
NM_000518.5(HBB):c.93-23T>C
|
rs111851677
|
0.00593
|
NM_017693.4(BIVM):c.244A>G (p.Ile82Val)
|
rs41281670
|
0.00583
|
NM_003506.4(FZD6):c.1214G>A (p.Arg405Gln)
|
rs150760762
|
0.00581
|
NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met)
|
rs144624477
|
0.00576
|
NM_024753.5(TTC21B):c.2322+3A>G
|
rs79037278
|
0.00575
|
NM_001065.4(TNFRSF1A):c.224C>T (p.Pro75Leu)
|
rs4149637
|
0.00574
|
NM_139027.6(ADAMTS13):c.3287G>A (p.Arg1096His)
|
rs61751476
|
0.00571
|
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln)
|
rs1801166
|
0.00570
|
NM_000132.4(F8):c.1508G>A (p.Arg503His)
|
rs35383156
|
0.00563
|
NM_032545.4(CFC1):c.484T>C (p.Phe162Leu)
|
rs776829911
|
0.00561
|
NM_145239.3(PRRT2):c.412C>G (p.Pro138Ala)
|
rs79182085
|
0.00560
|
NM_000296.4(PKD1):c.11534+3_11534+5dup
|
rs201204878
|
0.00559
|
NM_003359.4(UGDH):c.421C>T (p.Arg141Cys)
|
rs115137663
|
0.00554
|
NM_001009944.3(PKD1):c.4051C>T (p.Arg1351Trp)
|
rs55840049
|
0.00551
|
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln)
|
rs111475461
|
0.00551
|
NM_004960.4(FUS):c.*41G>A
|
rs80301724
|
0.00551
|
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys)
|
rs5738
|
0.00548
|
NM_002273.4(KRT8):c.184G>T (p.Gly62Cys)
|
rs11554495
|
0.00545
|
NM_001308093.3(GATA4):c.912+25G>A
|
rs147860174
|
0.00539
|
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val)
|
rs146496725
|
0.00537
|
NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser)
|
rs6413464
|
0.00527
|
NM_014946.4(SPAST):c.131C>T (p.Ser44Leu)
|
rs121908515
|
0.00521
|
NM_000436.4(OXCT1):c.112C>T (p.Arg38Cys)
|
rs76956231
|
0.00520
|
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala)
|
rs1800098
|
0.00519
|
NM_000110.4(DPYD):c.775A>G (p.Lys259Glu)
|
rs45589337
|
0.00513
|
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser)
|
rs74315394
|
0.00508
|
NM_000277.3(PAH):c.820A>G (p.Lys274Glu)
|
rs142934616
|
0.00496
|
NM_006915.3(RP2):c.260C>T (p.Thr87Ile)
|
rs147783915
|
0.00496
|
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys)
|
rs144979397
|
0.00495
|
NM_001264.5(CDSN):c.1358G>A (p.Ser453Asn)
|
rs117951780
|
0.00494
|
NM_000286.3(PEX12):c.102A>T (p.Arg34Ser)
|
rs147530802
|
0.00493
|
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met)
|
rs61749417
|
0.00491
|
NM_000202.8(IDS):c.925A>G (p.Thr309Ala)
|
rs145807417
|
0.00488
|
NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser)
|
rs28362261
|
0.00485
|
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg)
|
rs41308846
|
0.00484
|
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser)
|
rs34134328
|
0.00483
|
NM_000104.4(CYP1B1):c.685G>A (p.Glu229Lys)
|
rs57865060
|
0.00478
|
NM_015278.5(SASH1):c.3084C>A (p.Ser1028Arg)
|
rs140316955
|
0.00478
|
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_170665.4(ATP2A2):c.464-70C>A
|
rs183641769
|
0.00468
|
NM_172201.2(KCNE2):c.25C>G (p.Gln9Glu)
|
rs16991652
|
0.00468
|
NM_000283.4(PDE6B):c.655T>C (p.Tyr219His)
|
rs62295357
|
0.00465
|
NM_001061.7(TBXAS1):c.480C>A (p.Asp160Glu)
|
rs5768
|
0.00465
|
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys)
|
rs35731153
|
0.00463
|
NM_003105.6(SORL1):c.2840C>T (p.Thr947Met)
|
rs143571823
|
0.00461
|
NM_017534.6(MYH2):c.2908G>A (p.Val970Ile)
|
rs143872329
|
0.00456
|
NM_005502.4(ABCA1):c.688C>T (p.Arg230Cys)
|
rs9282541
|
0.00452
|
NM_000311.5(PRNP):c.424G>A (p.Gly142Ser)
|
rs150351644
|
0.00451
|
NM_001127222.2(CACNA1A):c.1357G>A (p.Ala453Thr)
|
rs41276886
|
0.00451
|
NM_001109878.2(TBX22):c.176-13C>A
|
rs55760411
|
0.00447
|
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val)
|
rs113806080
|
0.00446
|
NM_030973.4(MED25):c.1004C>T (p.Ala335Val)
|
rs145770066
|
0.00443
|
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu)
|
rs143759519
|
0.00440
|
NM_000059.4(BRCA2):c.7008-62A>G
|
rs76584943
|
0.00439
|
NM_000256.3(MYBPC3):c.833G>A (p.Gly278Glu)
|
rs147315081
|
0.00427
|
NM_000312.4(PROC):c.399C>T (p.Arg133=)
|
rs200045749
|
0.00427
|
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr)
|
rs111033481
|
0.00424
|
NM_181486.4(TBX5):c.787G>A (p.Val263Met)
|
rs147405081
|
0.00423
|
NM_000051.4(ATM):c.2250+22A>C
|
rs3218692
|
0.00419
|
NM_000051.4(ATM):c.2250+34A>C
|
rs3218705
|
0.00419
|
NM_000132.4(F8):c.2994T>G (p.His998Gln)
|
rs149853218
|
0.00419
|
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)
|
rs28897689
|
0.00419
|
NM_000540.3(RYR1):c.7209C>T (p.Arg2403=)
|
rs78795178
|
0.00417
|
NM_032444.4(SLX4):c.1637A>G (p.Tyr546Cys)
|
rs150547487
|
0.00416
|
NM_000515.5(GH1):c.152T>A (p.Phe51Tyr)
|
rs61735357
|
0.00414
|
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu)
|
rs34997054
|
0.00411
|
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met)
|
rs36215895
|
0.00411
|
NM_001097577.3(ANG):c.250A>G (p.Lys84Glu)
|
rs17560
|
0.00410
|
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His)
|
rs201012766
|
0.00405
|
NM_001330360.2(POLA1):c.3622G>C (p.Asp1208His)
|
rs41548013
|
0.00404
|
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His)
|
rs76371972
|
0.00404
|
NM_000022.4(ADA):c.425G>A (p.Arg142Gln)
|
rs61732239
|
0.00399
|
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met)
|
rs146882581
|
0.00396
|
NM_014425.5(INVS):c.1948G>C (p.Ala650Pro)
|
rs147452898
|
0.00394
|
NM_144687.4(NLRP12):c.910C>T (p.His304Tyr)
|
rs141245482
|
0.00392
|
NM_001710.6(CFB):c.1598A>G (p.Lys533Arg)
|
rs149101394
|
0.00391
|
NM_006005.3(WFS1):c.2452C>T (p.Arg818Cys)
|
rs35932623
|
0.00390
|
NM_022369.4(STRA6):c.1223G>A (p.Arg408Gln)
|
rs150814749
|
0.00390
|
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu)
|
rs41298432
|
0.00389
|
NM_004369.4(COL6A3):c.2030G>A (p.Arg677His)
|
rs35227432
|
0.00389
|
NM_005543.4(INSL3):c.52G>A (p.Val18Met)
|
rs200056709
|
0.00389
|
NM_005560.6(LAMA5):c.7318G>A (p.Val2440Ile)
|
rs150724688
|
0.00385
|
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr)
|
rs77357563
|
0.00382
|
NM_207361.6(FREM2):c.8902G>A (p.Val2968Ile)
|
rs116099212
|
0.00379
|
NM_000304.4(PMP22):c.353C>T (p.Thr118Met)
|
rs104894619
|
0.00378
|
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr)
|
rs72650011
|
0.00378
|
NM_032595.5(PPP1R9B):c.492G>C (p.Glu164Asp)
|
rs199651216
|
0.00378
|
NM_022153.2(VSIR):c.839C>T (p.Ser280Leu)
|
rs143240262
|
0.00376
|
NM_000327.4(ROM1):c.686G>A (p.Arg229His)
|
rs150168119
|
0.00375
|
NM_020117.11(LARS1):c.245A>G (p.Lys82Arg)
|
rs112954500
|
0.00374
|
NM_000190.4(HMBS):c.-28A>C
|
rs201349602
|
0.00371
|
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu)
|
rs190983114
|
0.00366
|
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser)
|
rs148206382
|
0.00359
|
NM_170784.3(MKKS):c.1015A>G (p.Ile339Val)
|
rs137853909
|
0.00359
|
NM_000384.3(APOB):c.3383G>A (p.Arg1128His)
|
rs12713843
|
0.00356
|
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser)
|
rs25409
|
0.00354
|
NM_000132.4(F8):c.2114-100A>G
|
rs36044968
|
0.00349
|
NM_000447.3(PSEN2):c.211C>T (p.Arg71Trp)
|
rs140501902
|
0.00349
|
NM_002206.3(ITGA7):c.2644G>A (p.Glu882Lys)
|
rs144983062
|
0.00347
|
NM_000719.7(CACNA1C):c.109G>A (p.Gly37Arg)
|
rs34534613
|
0.00346
|
NM_000051.4(ATM):c.6573-30C>T
|
rs775413448
|
0.00345
|
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn)
|
rs201370621
|
0.00344
|
NM_004281.4(BAG3):c.249C>A (p.His83Gln)
|
rs151331972
|
0.00344
|
NM_206933.4(USH2A):c.15562A>G (p.Ser5188Gly)
|
rs58257972
|
0.00343
|
NM_015058.2(VWA8):c.2003G>A (p.Arg668Gln)
|
rs138075452
|
0.00342
|
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly)
|
rs150925674
|
0.00340
|
NM_000426.4(LAMA2):c.4487C>T (p.Ala1496Val)
|
rs147077184
|
0.00338
|
NM_005472.5(KCNE3):c.248G>A (p.Arg83His)
|
rs17215437
|
0.00338
|
NM_001009944.3(PKD1):c.12826C>T (p.Arg4276Trp)
|
rs114251396
|
0.00335
|
NM_023067.4(FOXL2):c.*619C>A
|
rs180829214
|
0.00335
|
NM_000313.4(PROS1):c.1528G>A (p.Val510Met)
|
rs138925964
|
0.00331
|
NM_172364.5(CACNA2D4):c.2120G>A (p.Arg707His)
|
rs76064926
|
0.00329
|
NM_004281.4(BAG3):c.1138C>T (p.Pro380Ser)
|
rs144692954
|
0.00327
|
NM_000038.6(APC):c.4420G>A (p.Ala1474Thr)
|
rs139387758
|
0.00324
|
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp)
|
rs41511151
|
0.00318
|
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu)
|
rs71534278
|
0.00318
|
NM_001849.4(COL6A2):c.2351G>A (p.Arg784His)
|
rs75120695
|
0.00315
|
NM_024884.3(L2HGDH):c.1100A>G (p.Tyr367Cys)
|
rs115954396
|
0.00315
|
NM_001013836.2(MAD1L1):c.175C>T (p.Arg59Cys)
|
rs121908982
|
0.00314
|
NM_020975.6(RET):c.166C>A (p.Leu56Met)
|
rs145633958
|
0.00310
|
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu)
|
rs114973968
|
0.00309
|
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys)
|
rs56268439
|
0.00308
|
NM_024577.4(SH3TC2):c.3686A>T (p.Asp1229Val)
|
rs146920285
|
0.00306
|
NM_031307.4(PUS3):c.139G>A (p.Gly47Arg)
|
rs148691077
|
0.00306
|
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=)
|
rs17887014
|
0.00305
|
NM_002273.4(KRT8):c.187A>G (p.Ile63Val)
|
rs59536457
|
0.00302
|
NM_005912.3(MC4R):c.606C>A (p.Phe202Leu)
|
rs138281308
|
0.00302
|
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr)
|
rs55688530
|
0.00301
|
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val)
|
rs55907433
|
0.00297
|
NM_000492.4(CFTR):c.4242+13A>G
|
rs76179227
|
0.00295
|
NM_001142800.2(EYS):c.2500G>A (p.Val834Ile)
|
rs112464110
|
0.00293
|
NM_001009944.3(PKD1):c.6496C>T (p.Arg2166Cys)
|
rs146096401
|
0.00289
|
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys)
|
rs11571657
|
0.00288
|
NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile)
|
rs72466496
|
0.00287
|
NM_005045.4(RELN):c.3651C>G (p.Ile1217Met)
|
rs56342240
|
0.00287
|
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile)
|
rs148932323
|
0.00287
|
NM_000939.4(POMC):c.706C>G (p.Arg236Gly)
|
rs28932472
|
0.00286
|
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu)
|
rs2285644
|
0.00284
|
NM_012213.3(MLYCD):c.206C>T (p.Ala69Val)
|
rs200579941
|
0.00284
|
NM_000518.5(HBB):c.*96T>C
|
rs34029390
|
0.00283
|
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg)
|
rs137933390
|
0.00282
|
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser)
|
rs147551003
|
0.00280
|
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val)
|
rs182650126
|
0.00278
|
NM_006218.4(PIK3CA):c.2016-12C>T
|
rs147286696
|
0.00275
|
NM_182925.5(FLT4):c.2860C>T (p.Pro954Ser)
|
rs34255532
|
0.00275
|
NM_000352.6(ABCC8):c.1858C>T (p.Arg620Cys)
|
rs58241708
|
0.00272
|
NM_000038.6(APC):c.4360A>G (p.Lys1454Glu)
|
rs111866410
|
0.00271
|
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=)
|
rs139180845
|
0.00269
|
NM_002024.6(FMR1):c.*746T>C
|
rs183130936
|
0.00268
|
NM_012295.4(CABIN1):c.5821G>C (p.Val1941Leu)
|
rs142219142
|
0.00267
|
NM_001126049.2(KLLN):c.-898G>A
|
rs538728843
|
0.00262
|
NM_004360.5(CDH1):c.1680G>C (p.Thr560=)
|
rs35741240
|
0.00261
|
NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser)
|
rs41281310
|
0.00258
|
NM_004656.4(BAP1):c.1250+42G>A
|
rs150454901
|
0.00257
|
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile)
|
rs146102241
|
0.00255
|
NM_014874.4(MFN2):c.1403G>A (p.Arg468His)
|
rs138382758
|
0.00255
|
NM_000077.5(CDKN2A):c.430C>T (p.Arg144Cys)
|
rs116150891
|
0.00248
|
NM_000276.4(OCRL):c.439+3A>G
|
rs61752971
|
0.00248
|
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu)
|
rs11570112
|
0.00247
|
NM_000051.4(ATM):c.2921+19dup
|
rs56112367
|
0.00245
|
NM_006218.4(PIK3CA):c.2016-29A>T
|
rs374926790
|
0.00242
|
NM_005956.4(MTHFD1):c.878G>A (p.Arg293His)
|
rs34181110
|
0.00241
|
NM_018706.7(DHTKD1):c.1832A>G (p.Gln611Arg)
|
rs147938299
|
0.00240
|
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu)
|
rs41265127
|
0.00239
|
NM_001379110.1(SLC9A6):c.1460+4A>G
|
rs180727016
|
0.00239
|
NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser)
|
rs551521196
|
0.00237
|
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys)
|
rs144090917
|
0.00234
|
NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser)
|
rs11575933
|
0.00232
|
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala)
|
rs112592855
|
0.00231
|
NM_000514.4(GDNF):c.448G>A (p.Asp150Asn)
|
rs76466003
|
0.00230
|
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile)
|
rs141010716
|
0.00227
|
NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val)
|
rs142586585
|
0.00225
|
NM_153704.6(TMEM67):c.25G>A (p.Val9Met)
|
rs199961375
|
0.00225
|
NM_000492.4(CFTR):c.1210-13del
|
rs750294275
|
0.00222
|
NM_016932.5(SIX2):c.722C>T (p.Pro241Leu)
|
rs147806994
|
0.00220
|
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met)
|
rs141320511
|
0.00217
|
NM_003098.3(SNTA1):c.770C>G (p.Ala257Gly)
|
rs56157422
|
0.00217
|
NM_001177316.2(SLC34A3):c.1585A>T (p.Ile529Phe)
|
rs140639805
|
0.00216
|
NM_001177316.2(SLC34A3):c.1454G>A (p.Arg485His)
|
rs138872455
|
0.00215
|
NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp)
|
rs77021998
|
0.00214
|
NM_006005.3(WFS1):c.712+16G>A
|
rs71524367
|
0.00213
|
NM_032444.4(SLX4):c.2103G>C (p.Glu701Asp)
|
rs73505420
|
0.00210
|
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp)
|
rs4986845
|
0.00209
|
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)
|
rs147241704
|
0.00207
|
NM_003888.4(ALDH1A2):c.451G>T (p.Ala151Ser)
|
rs115875978
|
0.00204
|
NM_000540.3(RYR1):c.2677G>A (p.Gly893Ser)
|
rs147336515
|
0.00202
|
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His)
|
rs183885357
|
0.00200
|
NM_021175.4(HAMP):c.212G>A (p.Gly71Asp)
|
rs104894696
|
0.00197
|
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile)
|
rs148399850
|
0.00192
|
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn)
|
rs143340522
|
0.00192
|
NM_000059.4(BRCA2):c.231T>G (p.Thr77=)
|
rs114446594
|
0.00191
|
NM_000088.4(COL1A1):c.4006-33G>A
|
rs201920224
|
0.00190
|
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala)
|
rs140191346
|
0.00188
|
NM_000251.3(MSH2):c.23C>T (p.Thr8Met)
|
rs17217716
|
0.00184
|
NM_001378418.1(TCF20):c.4670C>T (p.Pro1557Leu)
|
rs199838890
|
0.00183
|
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln)
|
rs145895196
|
0.00180
|
NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu)
|
rs141392048
|
0.00180
|
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe)
|
rs45488304
|
0.00178
|
NM_001009944.3(PKD1):c.12460C>T (p.Arg4154Cys)
|
rs115538130
|
0.00178
|
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser)
|
rs145569846
|
0.00178
|
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg)
|
rs35736435
|
0.00177
|
NM_001105206.3(LAMA4):c.5443G>A (p.Val1815Ile)
|
rs3734292
|
0.00174
|
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys)
|
rs150759461
|
0.00174
|
NM_001037.5(SCN1B):c.448+321G>A
|
rs72558028
|
0.00173
|
NM_021625.5(TRPV4):c.649G>T (p.Ala217Ser)
|
rs187864727
|
0.00172
|
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr)
|
rs140992177
|
0.00171
|
NM_000492.4(CFTR):c.2260G>A (p.Val754Met)
|
rs150157202
|
0.00171
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00171
|
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val)
|
rs183156491
|
0.00171
|
NM_006231.4(POLE):c.4523G>A (p.Arg1508His)
|
rs142508245
|
0.00170
|
NM_024675.4(PALB2):c.3351-48G>T
|
rs201335445
|
0.00170
|
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)
|
rs1800059
|
0.00169
|
NM_000369.5(TSHR):c.357T>A (p.Pro119=)
|
rs144084915
|
0.00168
|
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)
|
rs116840776
|
0.00164
|
NM_000044.6(AR):c.1174C>T (p.Pro392Ser)
|
rs201934623
|
0.00163
|
NM_000388.4(CASR):c.748G>A (p.Glu250Lys)
|
rs62269092
|
0.00163
|
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val)
|
rs142403318
|
0.00162
|
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp)
|
rs145499142
|
0.00162
|
NM_000185.4(SERPIND1):c.623G>A (p.Arg208His)
|
rs5907
|
0.00161
|
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)
|
rs121918799
|
0.00159
|
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile)
|
rs193922639
|
0.00158
|
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)
|
rs45517423
|
0.00156
|
NM_004315.6(ASAH1):c.35G>C (p.Arg12Pro)
|
rs147896487
|
0.00155
|
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln)
|
rs121918817
|
0.00154
|
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala)
|
rs142992009
|
0.00153
|
NM_001846.4(COL4A2):c.5068G>A (p.Ala1690Thr)
|
rs201105747
|
0.00151
|
NM_001943.5(DSG2):c.166G>A (p.Val56Met)
|
rs121913013
|
0.00150
|
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile)
|
rs56158747
|
0.00150
|
NM_024006.6(VKORC1):c.106G>T (p.Asp36Tyr)
|
rs61742245
|
0.00150
|
NM_001379200.1(TBX1):c.955G>A (p.Gly319Ser)
|
rs41298838
|
0.00148
|
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp)
|
rs61734354
|
0.00146
|
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe)
|
rs151073129
|
0.00145
|
NM_000512.5(GALNS):c.1462G>A (p.Val488Met)
|
rs78127134
|
0.00140
|
NM_014425.5(INVS):c.913G>A (p.Val305Ile)
|
rs116438342
|
0.00140
|
NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu)
|
rs55816687
|
0.00138
|
NM_194454.3(KRIT1):c.*132T>G
|
rs572414111
|
0.00138
|
NM_000540.3(RYR1):c.2797G>A (p.Ala933Thr)
|
rs148623597
|
0.00137
|
NM_001198800.3(ASCC1):c.869A>G (p.Asn290Ser)
|
rs146370051
|
0.00135
|
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu)
|
rs148002300
|
0.00134
|
NM_001190880.3(HYI):c.167G>A (p.Gly56Glu)
|
rs551641144
|
0.00133
|
NM_004586.3(RPS6KA3):c.2168G>A (p.Arg723His)
|
rs144984628
|
0.00133
|
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg)
|
rs45527543
|
0.00130
|
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys)
|
rs61729664
|
0.00128
|
NM_003072.5(SMARCA4):c.1419+9C>T
|
rs374635008
|
0.00128
|
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile)
|
rs77358650
|
0.00127
|
NC_000004.12:g.1394562G>A
|
rs77782813
|
0.00126
|
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr)
|
rs72466590
|
0.00126
|
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu)
|
rs201062903
|
0.00124
|
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)
|
rs11212587
|
0.00124
|
NM_000443.4(ABCB4):c.101C>T (p.Thr34Met)
|
rs142794414
|
0.00123
|
NM_198859.4(PRICKLE2):c.457G>A (p.Val153Ile)
|
rs139747674
|
0.00120
|
NM_001367916.1(MAGT1):c.932T>G (p.Val311Gly)
|
rs145245774
|
0.00119
|
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val)
|
rs78972735
|
0.00119
|
NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter)
|
rs11574410
|
0.00118
|
NM_000044.6(AR):c.1960G>A (p.Glu654Lys)
|
rs200737258
|
0.00116
|
NM_002878.4(RAD51D):c.146C>T (p.Ala49Val)
|
rs140317560
|
0.00116
|
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg)
|
rs199727787
|
0.00116
|
NM_130837.3(OPA1):c.239A>G (p.Tyr80Cys)
|
rs151103940
|
0.00116
|
NM_000505.4(F12):c.1027G>C (p.Ala343Pro)
|
rs183643295
|
0.00115
|
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr)
|
rs112215250
|
0.00115
|
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg)
|
rs150367385
|
0.00114
|
NM_002907.4(RECQL):c.1215A>C (p.Ala405=)
|
rs147610182
|
0.00110
|
NM_004006.3(DMD):c.7571G>A (p.Arg2524His)
|
rs151244052
|
0.00109
|
NM_000336.3(SCNN1B):c.1152+10T>C
|
rs72654341
|
0.00108
|
NM_015278.5(SASH1):c.2459G>A (p.Arg820Gln)
|
rs144633784
|
0.00108
|
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val)
|
rs146429605
|
0.00107
|
NM_001379081.2(FREM1):c.1493G>A (p.Arg498Gln)
|
rs184394424
|
0.00107
|
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser)
|
rs141609561
|
0.00107
|
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His)
|
rs187705120
|
0.00106
|
NM_139027.6(ADAMTS13):c.2708C>T (p.Ser903Leu)
|
rs78977446
|
0.00106
|
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)
|
rs147213895
|
0.00104
|
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr)
|
rs61752878
|
0.00103
|
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu)
|
rs142047649
|
0.00102
|
NM_020708.5(SLC12A5):c.2855G>A (p.Arg952His)
|
rs142740233
|
0.00102
|
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His)
|
rs146504767
|
0.00101
|
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln)
|
rs75654767
|
0.00101
|
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys)
|
rs55716624
|
0.00100
|
NM_000455.5(STK11):c.894C>A (p.Phe298Leu)
|
rs199681533
|
0.00100
|
NM_005245.4(FAT1):c.4358G>A (p.Arg1453His)
|
rs186220887
|
0.00099
|
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr)
|
rs4986854
|
0.00098
|
NM_001009944.3(PKD1):c.10678G>A (p.Gly3560Arg)
|
rs79000340
|
0.00097
|
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala)
|
rs1800061
|
0.00096
|
NM_000059.4(BRCA2):c.6937+594T>G
|
rs191253965
|
0.00096
|
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly)
|
rs139139859
|
0.00096
|
NM_001283009.2(RTEL1):c.3049G>A (p.Asp1017Asn)
|
rs61736617
|
0.00096
|
NM_007294.4(BRCA1):c.3022A>G (p.Met1008Val)
|
rs56321129
|
0.00095
|
NM_000261.2(MYOC):c.1054G>A (p.Glu352Lys)
|
rs61745146
|
0.00093
|
NM_024864.5(MRM1):c.504C>G (p.Phe168Leu)
|
rs138258458
|
0.00093
|
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His)
|
rs142723249
|
0.00092
|
NM_001005242.3(PKP2):c.156G>A (p.Lys52=)
|
rs201210997
|
0.00092
|
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg)
|
rs121908242
|
0.00091
|
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)
|
rs74571530
|
0.00090
|
NM_000268.4(NF2):c.1386C>T (p.Arg462=)
|
rs138354622
|
0.00086
|
NM_001110219.3(GJB6):c.607A>G (p.Met203Val)
|
rs200674715
|
0.00086
|
NM_001146312.3(MYOCD):c.1252A>G (p.Ile418Val)
|
rs137939966
|
0.00086
|
NM_004281.4(BAG3):c.280A>T (p.Ile94Phe)
|
rs145393807
|
0.00085
|
NM_004963.4(GUCY2C):c.893C>T (p.Thr298Met)
|
rs148946391
|
0.00085
|
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)
|
rs35516286
|
0.00083
|
NM_000268.4(NF2):c.1451T>C (p.Met484Thr)
|
rs141538143
|
0.00082
|
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)
|
rs200130356
|
0.00081
|
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys)
|
rs35619497
|
0.00081
|
NM_000051.4(ATM):c.334G>A (p.Ala112Thr)
|
rs146382972
|
0.00080
|
NM_000090.4(COL3A1):c.1550C>T (p.Pro517Leu)
|
rs142085247
|
0.00080
|
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr)
|
rs61753975
|
0.00080
|
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro)
|
rs138951890
|
0.00080
|
NM_000268.4(NF2):c.599+40C>T
|
rs1292869497
|
0.00079
|
NM_000321.3(RB1):c.920C>T (p.Thr307Ile)
|
rs183898408
|
0.00079
|
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys)
|
rs79782048
|
0.00079
|
NC_000015.10:g.82540460G>A
|
rs575115395
|
0.00078
|
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)
|
rs112084407
|
0.00078
|
NM_005732.4(RAD50):c.3036+5G>A
|
rs181016343
|
0.00078
|
NM_022124.6(CDH23):c.2263C>T (p.His755Tyr)
|
rs181255269
|
0.00078
|
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr)
|
rs149253719
|
0.00078
|
NM_002469.3(MYF6):c.269C>A (p.Ala90Asp)
|
rs138296448
|
0.00077
|
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp)
|
rs137853247
|
0.00076
|
NM_000321.3(RB1):c.2566G>A (p.Asp856Asn)
|
rs149359120
|
0.00075
|
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)
|
rs137932199
|
0.00073
|
NM_001126128.2(PROK2):c.-4C>A
|
rs552496938
|
0.00073
|
NM_001165963.4(SCN1A):c.5782C>G (p.Arg1928Gly)
|
rs121917956
|
0.00073
|
NM_001370259.2(MEN1):c.-22C>A
|
rs374749001
|
0.00073
|
NM_004387.4(NKX2-5):c.61G>C (p.Glu21Gln)
|
rs104893904
|
0.00073
|
NM_016333.4(SRRM2):c.1037C>T (p.Ser346Phe)
|
rs149019598
|
0.00073
|
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn)
|
rs117209107
|
0.00072
|
NM_000038.6(APC):c.1604C>T (p.Ser535Phe)
|
rs75870842
|
0.00071
|
NM_005245.4(FAT1):c.8991G>A (p.Thr2997=)
|
rs138496810
|
0.00071
|
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)
|
rs149755320
|
0.00071
|
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp)
|
rs121917910
|
0.00070
|
NM_004176.5(SREBF1):c.332C>T (p.Pro111Leu)
|
rs115855236
|
0.00070
|
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu)
|
rs139717960
|
0.00069
|
NM_012295.4(CABIN1):c.45T>G (p.Asp15Glu)
|
rs148623569
|
0.00069
|
NM_000475.5(NR0B1):c.376G>A (p.Val126Met)
|
rs193205940
|
0.00068
|
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His)
|
rs200324356
|
0.00068
|
NM_001371279.1(REEP1):c.837G>T (p.Ser279=)
|
rs377637314
|
0.00068
|
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala)
|
rs63751005
|
0.00067
|
NM_017514.5(PLXNA3):c.56G>A (p.Gly19Asp)
|
rs202070666
|
0.00066
|
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn)
|
rs138874610
|
0.00065
|
NM_015375.3(DSTYK):c.86G>A (p.Arg29Gln)
|
rs200780796
|
0.00065
|
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu)
|
rs141711342
|
0.00063
|
NM_000256.3(MYBPC3):c.3682C>T (p.Arg1228Cys)
|
rs201312636
|
0.00063
|
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn)
|
rs199473316
|
0.00063
|
NM_001035.3(RYR2):c.3038G>A (p.Arg1013Gln)
|
rs149514924
|
0.00063
|
NM_001244008.2(KIF1A):c.3494T>C (p.Ile1165Thr)
|
rs35698242
|
0.00063
|
NM_001267550.2(TTN):c.107576T>C (p.Met35859Thr)
|
rs72629793
|
0.00063
|
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp)
|
rs199538589
|
0.00063
|
NM_006348.5(COG5):c.1826T>C (p.Ile609Thr)
|
rs142433421
|
0.00063
|
NM_030665.4(RAI1):c.3650G>A (p.Arg1217Gln)
|
rs142415050
|
0.00063
|
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr)
|
rs142358238
|
0.00062
|
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp)
|
rs139544114
|
0.00062
|
NM_012268.4(PLD3):c.851A>G (p.Asn284Ser)
|
rs200274020
|
0.00062
|
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser)
|
rs138776684
|
0.00061
|
NM_000388.4(CASR):c.3091G>A (p.Gly1031Ser)
|
rs142704083
|
0.00061
|
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met)
|
rs142951505
|
0.00061
|
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser)
|
rs199768782
|
0.00061
|
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys)
|
rs146505280
|
0.00059
|
NM_007294.4(BRCA1):c.4691T>C (p.Leu1564Pro)
|
rs56119278
|
0.00059
|
NM_000531.6(OTC):c.298+5G>C
|
rs72554348
|
0.00058
|
NM_000038.6(APC):c.4336G>A (p.Ala1446Thr)
|
rs146572883
|
0.00056
|
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile)
|
rs147604227
|
0.00056
|
NM_000313.4(PROS1):c.76+7A>G
|
rs201928951
|
0.00056
|
NM_018451.5(CENPJ):c.2462C>T (p.Thr821Met)
|
rs144938364
|
0.00056
|
NM_020975.6(RET):c.833C>A (p.Thr278Asn)
|
rs35118262
|
0.00056
|
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys)
|
rs111033275
|
0.00056
|
NM_032409.3(PINK1):c.558G>C (p.Lys186Asn)
|
rs143204084
|
0.00055
|
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg)
|
rs28897712
|
0.00054
|
NM_001366385.1(CARD14):c.1772C>T (p.Thr591Met)
|
rs200102454
|
0.00054
|
NM_003742.4(ABCB11):c.1772A>G (p.Asn591Ser)
|
rs11568367
|
0.00054
|
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)
|
rs34640941
|
0.00053
|
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=)
|
rs63750330
|
0.00053
|
NM_000601.6(HGF):c.1891G>A (p.Val631Met)
|
rs145494248
|
0.00053
|
NM_001374353.1(GLI2):c.2108G>A (p.Arg703His)
|
rs149091975
|
0.00053
|
NM_012140.5(SLC25A10):c.763-37G>A
|
rs200706742
|
0.00053
|
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys)
|
rs140592056
|
0.00051
|
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)
|
rs77130927
|
0.00051
|
NM_024675.4(PALB2):c.23C>T (p.Pro8Leu)
|
rs150390726
|
0.00051
|
NM_000122.2(ERCC3):c.1828-36C>T
|
rs113416031
|
0.00050
|
NM_005245.4(FAT1):c.8963A>T (p.Lys2988Ile)
|
rs74986565
|
0.00050
|
NM_206933.4(USH2A):c.15427C>T (p.Arg5143Cys)
|
rs145771342
|
0.00050
|
NM_000335.5(SCN5A):c.553G>A (p.Ala185Thr)
|
rs192113333
|
0.00049
|
NM_005429.5(VEGFC):c.553-15G>T
|
rs370267488
|
0.00049
|
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met)
|
rs142381713
|
0.00049
|
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly)
|
rs28897745
|
0.00048
|
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys)
|
rs3729712
|
0.00048
|
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met)
|
rs148176616
|
0.00048
|
NM_006514.4(SCN10A):c.3674T>C (p.Ile1225Thr)
|
rs139638446
|
0.00048
|
NM_174936.4(PCSK9):c.426C>G (p.Tyr142Ter)
|
rs67608943
|
0.00048
|
NM_206933.4(USH2A):c.2052A>G (p.Gln684=)
|
rs111033248
|
0.00048
|
NM_000180.4(GUCY2D):c.164C>T (p.Thr55Met)
|
rs201414567
|
0.00047
|
NM_000261.2(MYOC):c.878C>A (p.Thr293Lys)
|
rs139122673
|
0.00047
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00046
|
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly)
|
rs138958687
|
0.00046
|
NM_000251.3(MSH2):c.815C>T (p.Ala272Val)
|
rs34136999
|
0.00046
|
NM_000256.3(MYBPC3):c.1246G>A (p.Gly416Ser)
|
rs371513491
|
0.00046
|
NM_000492.4(CFTR):c.274-6T>C
|
rs371315549
|
0.00046
|
NM_000245.4(MET):c.959C>T (p.Ala320Val)
|
rs35776110
|
0.00045
|
NM_000268.4(NF2):c.1387G>A (p.Glu463Lys)
|
rs74315503
|
0.00044
|
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu)
|
rs79777494
|
0.00044
|
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp)
|
rs75321043
|
0.00044
|
NM_133497.4(KCNV2):c.80G>A (p.Arg27His)
|
rs145731729
|
0.00044
|
NM_145239.3(PRRT2):c.439G>C (p.Asp147His)
|
rs79568162
|
0.00044
|
NM_000169.3(GLA):c.376A>G (p.Ser126Gly)
|
rs149391489
|
0.00043
|
NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser)
|
rs141069645
|
0.00042
|
NM_006013.5(RPL10):c.628C>T (p.Arg210Trp)
|
rs979369776
|
0.00042
|
NM_000335.5(SCN5A):c.694G>A (p.Val232Ile)
|
rs45471994
|
0.00041
|
NM_000545.8(HNF1A):c.965A>G (p.Tyr322Cys)
|
rs140491072
|
0.00041
|
NM_012295.4(CABIN1):c.1468C>T (p.Arg490Cys)
|
rs201606398
|
0.00041
|
NM_000321.3(RB1):c.411A>T (p.Glu137Asp)
|
rs3092902
|
0.00040
|
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu)
|
rs150264233
|
0.00040
|
NM_000371.4(TTR):c.328C>A (p.His110Asn)
|
rs121918074
|
0.00040
|
NM_007294.4(BRCA1):c.4675+55A>G
|
rs934064952
|
0.00040
|
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln)
|
rs199886234
|
0.00039
|
NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys)
|
rs201816080
|
0.00039
|
NM_020975.6(RET):c.1946C>T (p.Ser649Leu)
|
rs148935214
|
0.00039
|
NM_182961.4(SYNE1):c.19692+3G>A
|
rs150304757
|
0.00039
|
NM_198578.4(LRRK2):c.2697A>C (p.Glu899Asp)
|
rs148113070
|
0.00039
|
NM_000038.6(APC):c.5690A>C (p.His1897Pro)
|
rs112610898
|
0.00038
|
NM_000051.4(ATM):c.3403-14A>T
|
rs941737393
|
0.00038
|
NM_000251.3(MSH2):c.1511-41G>C
|
rs202215396
|
0.00038
|
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr)
|
rs1800112
|
0.00038
|
NM_004360.5(CDH1):c.808T>G (p.Ser270Ala)
|
rs587776399
|
0.00038
|
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg)
|
rs201857437
|
0.00038
|
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val)
|
rs200512504
|
0.00037
|
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met)
|
rs34374438
|
0.00036
|
NM_000256.3(MYBPC3):c.1286C>T (p.Ala429Val)
|
rs370412052
|
0.00036
|
NM_000256.3(MYBPC3):c.3535G>A (p.Glu1179Lys)
|
rs199669878
|
0.00036
|
NM_000301.5(PLG):c.1858G>A (p.Ala620Thr)
|
rs121918027
|
0.00036
|
NM_000719.7(CACNA1C):c.1468G>A (p.Gly490Arg)
|
rs121912775
|
0.00036
|
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met)
|
rs74772771
|
0.00036
|
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met)
|
rs145611185
|
0.00036
|
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp)
|
rs117671123
|
0.00036
|
NM_004850.5(ROCK2):c.1802A>T (p.Asp601Val)
|
rs35768389
|
0.00036
|
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu)
|
rs56127440
|
0.00035
|
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys)
|
rs200352299
|
0.00035
|
NM_000059.4(BRCA2):c.322A>C (p.Asn108His)
|
rs80358567
|
0.00034
|
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr)
|
rs63750365
|
0.00034
|
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr)
|
rs141122361
|
0.00034
|
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser)
|
rs61749713
|
0.00034
|
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met)
|
rs34833812
|
0.00034
|
NM_003482.4(KMT2D):c.6811C>T (p.Pro2271Ser)
|
rs199802471
|
0.00034
|
NM_032977.4(CASP10):c.-8+5G>A
|
rs781551128
|
0.00034
|
NM_033028.5(BBS4):c.1414A>G (p.Met472Val)
|
rs2277596
|
0.00034
|
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala)
|
rs104886164
|
0.00034
|
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln)
|
rs111033409
|
0.00034
|
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly)
|
rs201057307
|
0.00033
|
NM_032977.4(CASP10):c.1202_1208del (p.Cys401fs)
|
rs747900630
|
0.00033
|
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)
|
rs2229022
|
0.00032
|
NM_001042492.3(NF1):c.1933A>G (p.Met645Val)
|
rs146051850
|
0.00032
|
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser)
|
rs80357015
|
0.00032
|
NM_000020.3(ACVRL1):c.88C>T (p.Pro30Ser)
|
rs149664056
|
0.00031
|
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu)
|
rs141010008
|
0.00031
|
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met)
|
rs45517294
|
0.00031
|
NM_004004.6(GJB2):c.499G>A (p.Val167Met)
|
rs111033360
|
0.00031
|
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr)
|
rs114322958
|
0.00031
|
NM_005228.5(EGFR):c.241-8C>G
|
rs138872748
|
0.00031
|
NM_005429.5(VEGFC):c.805G>A (p.Gly269Arg)
|
rs200182587
|
0.00031
|
NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu)
|
rs139007744
|
0.00031
|
NM_001110792.2(MECP2):c.1108G>A (p.Ala370Thr)
|
rs147017239
|
0.00030
|
NM_015922.3(NSDHL):c.*129C>T
|
rs145978994
|
0.00030
|
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu)
|
rs75820036
|
0.00029
|
NM_000527.5(LDLR):c.507C>T (p.Asn169=)
|
rs146354103
|
0.00029
|
NM_001089.3(ABCA3):c.367G>A (p.Asp123Asn)
|
rs145087575
|
0.00029
|
NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile)
|
rs140537304
|
0.00028
|
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser)
|
rs142254875
|
0.00028
|
NM_000261.2(MYOC):c.1058C>T (p.Thr353Ile)
|
rs137853277
|
0.00028
|
NM_000548.5(TSC2):c.3284+25C>T
|
rs370495938
|
0.00028
|
NM_001375883.1(GPR161):c.-5T>A
|
rs200635937
|
0.00028
|
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile)
|
rs201963516
|
0.00027
|
NM_000077.5(CDKN2A):c.318G>A (p.Val106=)
|
rs199888003
|
0.00026
|
NM_000154.2(GALK1):c.-22T>C
|
rs545362817
|
0.00026
|
NM_000179.3(MSH6):c.4002-10T>A
|
rs545466048
|
0.00026
|
NM_000335.5(SCN5A):c.5870G>A (p.Arg1957Gln)
|
rs199473331
|
0.00026
|
NM_002834.5(PTPN11):c.925A>G (p.Ile309Val)
|
rs201787206
|
0.00026
|
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn)
|
rs200894246
|
0.00026
|
NM_004415.4(DSP):c.7916G>A (p.Arg2639Gln)
|
rs116888866
|
0.00026
|
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val)
|
rs28897675
|
0.00026
|
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His)
|
rs56328701
|
0.00025
|
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg)
|
rs80358674
|
0.00025
|
NM_000546.6(TP53):c.704A>G (p.Asn235Ser)
|
rs144340710
|
0.00025
|
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met)
|
rs140731963
|
0.00025
|
NM_000044.6(AR):c.528C>A (p.Ser176Arg)
|
rs777131133
|
0.00024
|
NM_000245.4(MET):c.967A>G (p.Ser323Gly)
|
rs201467281
|
0.00024
|
NM_003482.4(KMT2D):c.12485G>A (p.Arg4162Gln)
|
rs201078160
|
0.00024
|
NM_025130.4(HKDC1):c.1258C>T (p.His420Tyr)
|
rs201518882
|
0.00024
|
NM_144997.7(FLCN):c.715C>T (p.Arg239Cys)
|
rs78683075
|
0.00024
|
NM_198253.3(TERT):c.1138C>T (p.Pro380Ser)
|
rs144756946
|
0.00024
|
NM_000090.4(COL3A1):c.1815+5G>A
|
rs146652498
|
0.00023
|
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys)
|
rs34591340
|
0.00023
|
NM_000059.4(BRCA2):c.9502-12T>G
|
rs81002803
|
0.00022
|
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg)
|
rs63750702
|
0.00022
|
NM_004176.5(SREBF1):c.677C>T (p.Thr226Met)
|
rs70937019
|
0.00022
|
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala)
|
rs116093741
|
0.00022
|
NM_007078.3(LDB3):c.1049C>T (p.Thr350Ile)
|
rs200796750
|
0.00022
|
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)
|
rs77778467
|
0.00022
|
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val)
|
rs200367454
|
0.00022
|
NM_024426.6(WT1):c.-106C>T
|
rs867975105
|
0.00021
|
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu)
|
rs534886444
|
0.00020
|
NM_206933.4(USH2A):c.10510C>G (p.Pro3504Ala)
|
rs200372118
|
0.00020
|
NM_000179.3(MSH6):c.4001+11_4001+15dup
|
rs587779302
|
0.00019
|
NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys)
|
rs63750006
|
0.00019
|
NM_000535.7(PMS2):c.1243G>A (p.Val415Met)
|
rs138387687
|
0.00019
|
NM_000548.5(TSC2):c.5378G>A (p.Arg1793Gln)
|
rs45506695
|
0.00019
|
NM_007294.4(BRCA1):c.4484+14A>G
|
rs80358022
|
0.00019
|
NM_020975.6(RET):c.1529C>T (p.Ala510Val)
|
rs201745826
|
0.00019
|
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe)
|
rs193030567
|
0.00019
|
NM_000038.6(APC):c.3374T>C (p.Val1125Ala)
|
rs377278397
|
0.00018
|
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val)
|
rs11571653
|
0.00018
|
NM_000059.4(BRCA2):c.7712A>G (p.Glu2571Gly)
|
rs55689095
|
0.00018
|
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr)
|
rs63749910
|
0.00018
|
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)
|
rs45553235
|
0.00018
|
NM_000361.3(THBD):c.-151G>T
|
rs16984852
|
0.00018
|
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp)
|
rs118203745
|
0.00018
|
NM_000546.6(TP53):c.935C>G (p.Thr312Ser)
|
rs145151284
|
0.00018
|
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr)
|
rs45505895
|
0.00018
|
NM_001378743.1(CYLD):c.514C>T (p.Arg172Cys)
|
rs201836260
|
0.00018
|
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys)
|
rs147834269
|
0.00018
|
NM_007294.4(BRCA1):c.5406+33A>T
|
rs80358092
|
0.00018
|
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys)
|
rs201004111
|
0.00017
|
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys)
|
rs63750114
|
0.00016
|
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala)
|
rs41295280
|
0.00016
|
NM_000261.2(MYOC):c.34G>C (p.Gly12Arg)
|
rs199752860
|
0.00016
|
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly)
|
rs200950673
|
0.00016
|
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser)
|
rs185237690
|
0.00016
|
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala)
|
rs147522594
|
0.00016
|
NM_002880.4(RAF1):c.122G>A (p.Arg41Gln)
|
rs145611571
|
0.00016
|
NM_003482.4(KMT2D):c.626C>T (p.Thr209Ile)
|
rs373972024
|
0.00016
|
NM_014112.5(TRPS1):c.2441G>T (p.Arg814Leu)
|
rs146506752
|
0.00016
|
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys)
|
rs201869624
|
0.00016
|
NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu)
|
rs775332895
|
0.00016
|
NM_000038.6(APC):c.6985A>G (p.Ile2329Val)
|
rs146048493
|
0.00015
|
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn)
|
rs45509392
|
0.00015
|
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr)
|
rs45520032
|
0.00015
|
NM_001382430.1(AKT1):c.406G>A (p.Val136Met)
|
rs778376616
|
0.00015
|
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn)
|
rs372989292
|
0.00015
|
NM_031276.3(TEX11):c.2243T>C (p.Val748Ala)
|
rs200139216
|
0.00015
|
NM_133433.4(NIPBL):c.6478G>T (p.Asp2160Tyr)
|
rs147054690
|
0.00015
|
NM_000020.3(ACVRL1):c.652C>T (p.Arg218Trp)
|
rs199874575
|
0.00014
|
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr)
|
rs55854959
|
0.00014
|
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu)
|
rs61748083
|
0.00014
|
NM_000249.4(MLH1):c.803A>G (p.Glu268Gly)
|
rs63750650
|
0.00014
|
NM_000465.4(BARD1):c.1203T>C (p.Ser401=)
|
rs370553043
|
0.00014
|
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys)
|
rs2307440
|
0.00014
|
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr)
|
rs201004645
|
0.00014
|
NM_005257.6(GATA6):c.551G>A (p.Ser184Asn)
|
rs387906816
|
0.00014
|
NM_012193.4(FZD4):c.205C>T (p.His69Tyr)
|
rs80358282
|
0.00014
|
NM_013447.4(ADGRE2):c.1492del (p.Thr498fs)
|
rs771415140
|
0.00014
|
NM_013447.4(ADGRE2):c.355G>C (p.Asp119His)
|
rs751263352
|
0.00014
|
NM_022788.5(P2RY12):c.365G>A (p.Arg122His)
|
rs778790805
|
0.00014
|
NM_170784.3(MKKS):c.1553G>A (p.Arg518His)
|
rs149051148
|
0.00014
|
NM_000059.4(BRCA2):c.3445A>G (p.Met1149Val)
|
rs80358589
|
0.00013
|
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser)
|
rs144890720
|
0.00013
|
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu)
|
rs374704824
|
0.00013
|
NM_001127511.3(APC):c.119G>C (p.Ser40Thr)
|
rs587778028
|
0.00013
|
NM_005765.3(ATP6AP2):c.217C>T (p.Arg73Trp)
|
rs749401561
|
0.00013
|
NM_013447.4(ADGRE2):c.364G>A (p.Glu122Lys)
|
rs200783500
|
0.00013
|
NM_001317778.2(SFTPC):c.445G>C (p.Ala149Pro)
|
rs202145169
|
0.00012
|
NM_003955.5(SOCS3):c.408C>A (p.Phe136Leu)
|
rs17849241
|
0.00012
|
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala)
|
rs80357467
|
0.00012
|
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr)
|
rs202004587
|
0.00011
|
NM_000435.3(NOTCH3):c.4348G>A (p.Ala1450Thr)
|
rs201082692
|
0.00011
|
NM_000447.3(PSEN2):c.640G>T (p.Val214Leu)
|
rs574125890
|
0.00011
|
NM_004360.5(CDH1):c.1223C>T (p.Ala408Val)
|
rs138135866
|
0.00011
|
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly)
|
rs121964872
|
0.00011
|
NM_007294.4(BRCA1):c.4934G>C (p.Arg1645Thr)
|
rs70953661
|
0.00011
|
NM_206933.4(USH2A):c.2633G>A (p.Arg878His)
|
rs200124505
|
0.00011
|
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile)
|
rs143240767
|
0.00011
|
NM_001317778.2(SFTPC):c.176A>G (p.His59Arg)
|
rs201567623
|
0.00010
|
NM_001332.4(CTNND2):c.100G>A (p.Gly34Ser)
|
rs151129181
|
0.00010
|
NM_004006.3(DMD):c.1318G>A (p.Glu440Lys)
|
rs189143447
|
0.00010
|
NM_138959.3(VANGL1):c.248C>T (p.Ser83Leu)
|
rs146695372
|
0.00010
|
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu)
|
rs56121817
|
0.00009
|
NM_000264.5(PTCH1):c.4219G>A (p.Gly1407Ser)
|
rs56161606
|
0.00009
|
NM_000335.5(SCN5A):c.934+4C>T
|
rs182050752
|
0.00009
|
NM_000435.3(NOTCH3):c.6569C>T (p.Ala2190Val)
|
rs528151296
|
0.00009
|
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile)
|
rs727505080
|
0.00009
|
NM_000465.4(BARD1):c.1694G>A (p.Arg565His)
|
rs146946984
|
0.00009
|
NM_001037.5(SCN1B):c.448+189C>A
|
rs766373298
|
0.00009
|
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp)
|
rs143329068
|
0.00009
|
NM_003244.4(TGIF1):c.377T>C (p.Val126Ala)
|
rs199580307
|
0.00009
|
NM_004415.4(DSP):c.5513G>A (p.Arg1838His)
|
rs377715841
|
0.00009
|
NM_004656.4(BAP1):c.121G>A (p.Gly41Ser)
|
rs372586694
|
0.00009
|
NM_005245.4(FAT1):c.4723G>A (p.Ala1575Thr)
|
rs768661863
|
0.00009
|
NM_013447.4(ADGRE2):c.584G>A (p.Trp195Ter)
|
rs752508886
|
0.00009
|
NM_000059.4(BRCA2):c.9501+3A>T
|
rs61757642
|
0.00008
|
NM_000249.4(MLH1):c.1742C>T (p.Pro581Leu)
|
rs63751684
|
0.00008
|
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala)
|
rs55778204
|
0.00008
|
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser)
|
rs587781976
|
0.00008
|
NM_002968.3(SALL1):c.1738A>G (p.Ile580Val)
|
rs761575154
|
0.00008
|
NM_004360.5(CDH1):c.387+5G>A
|
rs113055163
|
0.00008
|
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val)
|
rs80357465
|
0.00008
|
NM_013447.4(ADGRE2):c.635-2A>C
|
rs779707406
|
0.00008
|
NM_172107.4(KCNQ2):c.2613G>T (p.Arg871Ser)
|
rs587780369
|
0.00008
|
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val)
|
rs111033524
|
0.00008
|
NM_000051.4(ATM):c.2021A>G (p.His674Arg)
|
rs201762714
|
0.00007
|
NM_000075.4(CDK4):c.776C>T (p.Ser259Leu)
|
rs201617914
|
0.00007
|
NM_000122.2(ERCC3):c.1828-33C>T
|
rs745775695
|
0.00007
|
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile)
|
rs730881787
|
0.00007
|
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu)
|
rs199472864
|
0.00007
|
NM_000435.3(NOTCH3):c.709G>A (p.Val237Met)
|
rs2285981
|
0.00007
|
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys)
|
rs142920240
|
0.00007
|
NM_001167.4(XIAP):c.962C>G (p.Ala321Gly)
|
rs182340753
|
0.00007
|
NM_002448.3(MSX1):c.127A>C (p.Met43Leu)
|
rs565664559
|
0.00007
|
NM_005245.4(FAT1):c.10331A>G (p.Asn3444Ser)
|
rs188148421
|
0.00007
|
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val)
|
rs56039126
|
0.00007
|
NM_013447.4(ADGRE2):c.2266G>T (p.Ala756Ser)
|
rs373190699
|
0.00007
|
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly)
|
rs370560998
|
0.00006
|
NM_000057.4(BLM):c.114A>G (p.Lys38=)
|
rs770017301
|
0.00006
|
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp)
|
rs80358451
|
0.00006
|
NM_000179.3(MSH6):c.1019T>C (p.Phe340Ser)
|
rs61753793
|
0.00006
|
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile)
|
rs376799914
|
0.00006
|
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu)
|
rs199594809
|
0.00006
|
NM_000238.4(KCNH2):c.3112G>A (p.Val1038Met)
|
rs199473544
|
0.00006
|
NM_000251.3(MSH2):c.499G>C (p.Asp167His)
|
rs63750255
|
0.00006
|
NM_000257.4(MYH7):c.1322C>T (p.Thr441Met)
|
rs121913653
|
0.00006
|
NM_000257.4(MYH7):c.2360G>A (p.Arg787His)
|
rs376754645
|
0.00006
|
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His)
|
rs199473592
|
0.00006
|
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp)
|
rs199473044
|
0.00006
|
NM_000335.5(SCN5A):c.5452G>A (p.Asp1818Asn)
|
rs137854619
|
0.00006
|
NM_000455.5(STK11):c.842C>T (p.Pro281Leu)
|
rs121913322
|
0.00006
|
NM_000492.4(CFTR):c.1519A>G (p.Ile507Val)
|
rs1801178
|
0.00006
|
NM_000540.3(RYR1):c.9758T>C (p.Ile3253Thr)
|
rs375626634
|
0.00006
|
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val)
|
rs143900944
|
0.00006
|
NM_001009944.3(PKD1):c.6878C>T (p.Pro2293Leu)
|
rs530832015
|
0.00006
|
NM_001042492.3(NF1):c.8395G>A (p.Val2799Ile)
|
rs377393842
|
0.00006
|
NM_001105247.2(ARMC5):c.1039C>T (p.Pro347Ser)
|
rs79238971
|
0.00006
|
NM_002907.4(RECQL):c.395-7C>T
|
rs760078101
|
0.00006
|
NM_003242.6(TGFBR2):c.985G>A (p.Ala329Thr)
|
rs148665451
|
0.00006
|
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)
|
rs376898963
|
0.00006
|
NM_006005.3(WFS1):c.28C>T (p.Pro10Ser)
|
rs760256649
|
0.00006
|
NM_007294.4(BRCA1):c.1392C>T (p.Thr464=)
|
rs533802049
|
0.00006
|
NM_007294.4(BRCA1):c.3739G>A (p.Val1247Ile)
|
rs80357191
|
0.00006
|
NM_013447.4(ADGRE2):c.137G>A (p.Arg46His)
|
rs142343910
|
0.00006
|
NM_013447.4(ADGRE2):c.138C>A (p.Arg46=)
|
rs202128202
|
0.00006
|
NM_013447.4(ADGRE2):c.2174G>A (p.Arg725Gln)
|
rs374432034
|
0.00006
|
NM_013447.4(ADGRE2):c.697G>A (p.Val233Met)
|
rs377729863
|
0.00006
|
NM_020647.4(JPH1):c.638G>C (p.Arg213Pro)
|
rs201314759
|
0.00006
|
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys)
|
rs200620434
|
0.00006
|
NM_033343.4(LHX4):c.1165C>A (p.Pro389Thr)
|
rs145433128
|
0.00006
|
NM_058216.3(RAD51C):c.870T>A (p.Ile290=)
|
rs376402418
|
0.00006
|
NM_000051.4(ATM):c.3403-14_3403-13del
|
rs1565441205
|
0.00005
|
NM_000059.4(BRCA2):c.9275A>G (p.Tyr3092Cys)
|
rs80359195
|
0.00005
|
NM_000136.3(FANCC):c.1329+306C>T
|
rs185023012
|
0.00005
|
NM_000245.4(MET):c.789G>A (p.Thr263=)
|
rs554190225
|
0.00005
|
NM_000249.4(MLH1):c.1392T>C (p.Pro464=)
|
rs63750201
|
0.00005
|
NM_000249.4(MLH1):c.438A>G (p.Gln146=)
|
rs377279035
|
0.00005
|
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys)
|
rs201117452
|
0.00005
|
NM_000492.4(CFTR):c.3469-20T>C
|
rs373002889
|
0.00005
|
NM_001048174.2(MUTYH):c.630C>T (p.Asn210=)
|
rs767327888
|
0.00005
|
NM_001330360.2(POLA1):c.169-10A>G
|
rs998607228
|
0.00005
|
NM_001382430.1(AKT1):c.570C>T (p.Asp190=)
|
rs780207480
|
0.00005
|
NM_004700.4(KCNQ4):c.648C>T (p.Arg216=)
|
rs80358269
|
0.00005
|
NM_007294.4(BRCA1):c.301+55G>A
|
rs868735744
|
0.00005
|
NM_013447.4(ADGRE2):c.715C>T (p.Arg239Cys)
|
rs750767967
|
0.00005
|
NM_013447.4(ADGRE2):c.745G>A (p.Gly249Arg)
|
rs770915022
|
0.00005
|
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr)
|
rs373375060
|
0.00005
|
NM_020975.6(RET):c.3188-9C>T
|
rs551159582
|
0.00005
|
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala)
|
rs138137162
|
0.00004
|
NM_000051.4(ATM):c.3154-5C>T
|
rs55719759
|
0.00004
|
NM_000059.4(BRCA2):c.1181A>C (p.Glu394Ala)
|
rs56016241
|
0.00004
|
NM_000059.4(BRCA2):c.4570T>G (p.Phe1524Val)
|
rs56386506
|
0.00004
|
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser)
|
rs80358978
|
0.00004
|
NM_000059.4(BRCA2):c.8702G>A (p.Gly2901Asp)
|
rs80359129
|
0.00004
|
NM_000122.2(ERCC3):c.1828-35C>T
|
rs1444307407
|
0.00004
|
NM_000179.3(MSH6):c.107C>T (p.Ala36Val)
|
rs61756469
|
0.00004
|
NM_000256.3(MYBPC3):c.82G>A (p.Val28Met)
|
rs776834755
|
0.00004
|
NM_000358.3(TGFBI):c.367G>C (p.Asp123His)
|
rs541270955
|
0.00004
|
NM_000447.3(PSEN2):c.505C>A (p.His169Asn)
|
rs533813519
|
0.00004
|
NM_000546.6(TP53):c.1096T>G (p.Ser366Ala)
|
rs17881470
|
0.00004
|
NM_000546.6(TP53):c.28G>A (p.Val10Ile)
|
rs535274413
|
0.00004
|
NM_000548.5(TSC2):c.292C>T (p.Arg98Trp)
|
rs372321790
|
0.00004
|
NM_001012338.3(NTRK3):c.278C>T (p.Thr93Met)
|
rs147992979
|
0.00004
|
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp)
|
rs372686071
|
0.00004
|
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile)
|
rs587780353
|
0.00004
|
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu)
|
rs372425457
|
0.00004
|
NM_003244.4(TGIF1):c.451A>G (p.Thr151Ala)
|
rs121909068
|
0.00004
|
NM_004211.5(SLC6A5):c.2114A>G (p.Tyr705Cys)
|
rs143918578
|
0.00004
|
NM_004360.5(CDH1):c.2494G>A (p.Val832Met)
|
rs35572355
|
0.00004
|
NM_004655.4(AXIN2):c.2083G>T (p.Ala695Ser)
|
rs140510381
|
0.00004
|
NM_005228.5(EGFR):c.2710G>A (p.Val904Ile)
|
rs538497054
|
0.00004
|
NM_005429.5(VEGFC):c.172G>A (p.Glu58Lys)
|
rs200219952
|
0.00004
|
NM_007144.3(PCGF2):c.265+8C>T
|
rs767116828
|
0.00004
|
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His)
|
rs56272539
|
0.00004
|
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser)
|
rs273898682
|
0.00004
|
NM_007294.4(BRCA1):c.4261C>T (p.His1421Tyr)
|
rs80357013
|
0.00004
|
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln)
|
rs80357442
|
0.00004
|
NM_020975.6(RET):c.1118C>T (p.Ala373Val)
|
rs546866208
|
0.00004
|
NM_181336.4(LEMD2):c.335C>T (p.Ala112Val)
|
rs149584596
|
0.00004
|
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys)
|
rs754691867
|
0.00003
|
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr)
|
rs369264968
|
0.00003
|
NM_000059.4(BRCA2):c.1564G>C (p.Gly522Arg)
|
rs80358442
|
0.00003
|
NM_000059.4(BRCA2):c.1744A>C (p.Thr582Pro)
|
rs80358457
|
0.00003
|
NM_000059.4(BRCA2):c.7565C>T (p.Ser2522Phe)
|
rs80358985
|
0.00003
|
NM_000062.3(SERPING1):c.352A>G (p.Thr118Ala)
|
rs200534715
|
0.00003
|
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln)
|
rs756467921
|
0.00003
|
NM_000103.4(CYP19A1):c.242A>G (p.Tyr81Cys)
|
rs199845027
|
0.00003
|
NM_000314.8(PTEN):c.-799G>C
|
rs587779992
|
0.00003
|
NM_001003800.2(BICD2):c.1079C>T (p.Ala360Val)
|
rs587777884
|
0.00003
|
NM_001035.3(RYR2):c.7493C>T (p.Ala2498Val)
|
rs374191985
|
0.00003
|
NM_001134363.3(RBM20):c.1603G>A (p.Val535Ile)
|
rs183007628
|
0.00003
|
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys)
|
rs121918807
|
0.00003
|
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn)
|
rs56208331
|
0.00003
|
NM_001375524.1(TRRAP):c.511C>T (p.Arg171Cys)
|
rs200157211
|
0.00003
|
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu)
|
rs200786329
|
0.00003
|
NM_004360.5(CDH1):c.304G>A (p.Ala102Thr)
|
rs368492235
|
0.00003
|
NM_004360.5(CDH1):c.499G>A (p.Glu167Lys)
|
rs769076258
|
0.00003
|
NM_004360.5(CDH1):c.671G>A (p.Arg224His)
|
rs201511530
|
0.00003
|
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val)
|
rs372331627
|
0.00003
|
NM_007294.4(BRCA1):c.811G>A (p.Val271Met)
|
rs80357244
|
0.00003
|
NM_013447.4(ADGRE2):c.1876C>T (p.Leu626Phe)
|
rs145425662
|
0.00003
|
NM_013447.4(ADGRE2):c.73G>A (p.Asp25Asn)
|
rs748886583
|
0.00003
|
NM_020975.6(RET):c.539G>A (p.Arg180Gln)
|
rs370736139
|
0.00003
|
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala)
|
rs368299411
|
0.00003
|
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His)
|
rs371947306
|
0.00003
|
NM_138959.3(VANGL1):c.518G>A (p.Arg173His)
|
rs148341022
|
0.00003
|
NM_206933.4(USH2A):c.7451+3G>A
|
rs397518030
|
0.00003
|
NM_000059.4(BRCA2):c.9986A>G (p.Asn3329Ser)
|
rs76635144
|
0.00002
|
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile)
|
rs750409379
|
0.00002
|
NM_000245.4(MET):c.3054C>T (p.Asn1018=)
|
rs369148519
|
0.00002
|
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His)
|
rs727503191
|
0.00002
|
NM_000321.3(RB1):c.1128-43C>T
|
rs955333850
|
0.00002
|
NM_000518.5(HBB):c.262A>C (p.Thr88Pro)
|
rs35553496
|
0.00002
|
NM_000546.6(TP53):c.665C>T (p.Pro222Leu)
|
rs146340390
|
0.00002
|
NM_001060.6(TBXA2R):c.179G>T (p.Arg60Leu)
|
rs34377097
|
0.00002
|
NM_001142800.2(EYS):c.1999C>T (p.Arg667Cys)
|
rs765763663
|
0.00002
|
NM_001366432.2(PPP4R3A):c.1145C>T (p.Thr382Ile)
|
rs776093984
|
0.00002
|
NM_001388419.1(KALRN):c.7174A>G (p.Ser2392Gly)
|
rs992438028
|
0.00002
|
NM_002769.5(PRSS1):c.292C>A (p.Gln98Lys)
|
rs750348889
|
0.00002
|
NM_002890.3(RASA1):c.2288A>T (p.Glu763Val)
|
rs373098580
|
0.00002
|
NM_004360.5(CDH1):c.1118C>T (p.Pro373Leu)
|
rs587782359
|
0.00002
|
NM_004360.5(CDH1):c.269G>A (p.Arg90Gln)
|
rs587782647
|
0.00002
|
NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr)
|
rs80356895
|
0.00002
|
NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp)
|
rs80356876
|
0.00002
|
NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg)
|
rs80357323
|
0.00002
|
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp)
|
rs397509327
|
0.00002
|
NM_013447.4(ADGRE2):c.1454G>A (p.Trp485Ter)
|
rs1227458117
|
0.00002
|
NM_013447.4(ADGRE2):c.1541G>T (p.Cys514Phe)
|
rs1054685455
|
0.00002
|
NM_020975.6(RET):c.1941C>T (p.Ile647=)
|
rs75225191
|
0.00002
|
NM_024408.4(NOTCH2):c.137A>G (p.Asn46Ser)
|
rs61788900
|
0.00002
|
NM_033380.3(COL4A5):c.2107A>G (p.Ile703Val)
|
rs104886155
|
0.00002
|
NM_000038.6(APC):c.3910A>G (p.Ile1304Val)
|
rs770157475
|
0.00001
|
NM_000051.4(ATM):c.6681C>T (p.Arg2227=)
|
rs775850434
|
0.00001
|
NM_000057.4(BLM):c.302G>C (p.Arg101Thr)
|
rs781707344
|
0.00001
|
NM_000059.4(BRCA2):c.10150C>T (p.Arg3384Ter)
|
rs397507568
|
0.00001
|
NM_000059.4(BRCA2):c.1441A>G (p.Ile481Val)
|
rs760559435
|
0.00001
|
NM_000059.4(BRCA2):c.2755G>A (p.Glu919Lys)
|
rs431825298
|
0.00001
|
NM_000059.4(BRCA2):c.2771A>T (p.Asn924Ile)
|
rs80358530
|
0.00001
|
NM_000059.4(BRCA2):c.2946A>G (p.Ile982Met)
|
rs80358541
|
0.00001
|
NM_000059.4(BRCA2):c.6953G>A (p.Arg2318Gln)
|
rs80358921
|
0.00001
|
NM_000059.4(BRCA2):c.7618-19G>T
|
rs371417084
|
0.00001
|
NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=)
|
rs80359800
|
0.00001
|
NM_000059.4(BRCA2):c.8764A>G (p.Ser2922Gly)
|
rs80359132
|
0.00001
|
NM_000059.4(BRCA2):c.9645T>A (p.Leu3215=)
|
rs755111487
|
0.00001
|
NM_000133.4(F9):c.109G>A (p.Ala37Thr)
|
rs367569299
|
0.00001
|
NM_000138.5(FBN1):c.3571G>A (p.Asp1191Asn)
|
rs370121450
|
0.00001
|
NM_000179.3(MSH6):c.1403G>A (p.Arg468His)
|
rs41295268
|
0.00001
|
NM_000179.3(MSH6):c.161G>C (p.Gly54Ala)
|
rs63751098
|
0.00001
|
NM_000179.3(MSH6):c.2400T>C (p.Val800=)
|
rs267608071
|
0.00001
|
NM_000179.3(MSH6):c.3936T>C (p.Val1312=)
|
rs61753796
|
0.00001
|
NM_000184.3(HBG2):c.62T>C (p.Val21Ala)
|
rs63751196
|
0.00001
|
NM_000203.5(IDUA):c.245A>C (p.His82Pro)
|
rs794727239
|
0.00001
|
NM_000249.4(MLH1):c.845C>G (p.Ala282Gly)
|
rs63750360
|
0.00001
|
NM_000251.3(MSH2):c.459C>T (p.Ser153=)
|
rs63751065
|
0.00001
|
NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile)
|
rs397516309
|
0.00001
|
NM_000261.2(MYOC):c.473G>A (p.Arg158Gln)
|
rs199746824
|
0.00001
|
NM_000284.4(PDHA1):c.292-27T>G
|
rs1389638523
|
0.00001
|
NM_000330.4(RS1):c.185-3176C>T
|
rs747799506
|
0.00001
|
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu)
|
rs397508607
|
0.00001
|
NM_000518.4(HBB):c.410G>A (p.Gly137Asp)
|
rs33949486
|
0.00001
|
NM_000518.4(HBB):c.68A>C (p.Glu23Ala)
|
rs33936254
|
0.00001
|
NM_000546.6(TP53):c.1025G>A (p.Arg342Gln)
|
rs375338359
|
0.00001
|
NM_000546.6(TP53):c.245C>T (p.Pro82Leu)
|
rs534447939
|
0.00001
|
NM_000553.6(WRN):c.58A>G (p.Asn20Asp)
|
rs1233624462
|
0.00001
|
NM_001005498.4(RHBDF2):c.1116-7T>C
|
rs920432024
|
0.00001
|
NM_001040142.2(SCN2A):c.982T>G (p.Phe328Val)
|
rs781204054
|
0.00001
|
NM_001048174.2(MUTYH):c.914-50C>T
|
rs1644954335
|
0.00001
|
NM_001079866.2(BCS1L):c.142A>G (p.Met48Val)
|
rs755305281
|
0.00001
|
NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val)
|
rs373967247
|
0.00001
|
NM_001205293.3(CACNA1E):c.1883+9C>G
|
rs1488129029
|
0.00001
|
NM_001291088.2(WDR87):c.3402A>T (p.Lys1134Asn)
|
rs2046193783
|
0.00001
|
NM_001291088.2(WDR87):c.5282A>T (p.Glu1761Val)
|
rs917453243
|
0.00001
|
NM_001291088.2(WDR87):c.7999A>G (p.Thr2667Ala)
|
rs1244315984
|
0.00001
|
NM_001323289.2(CDKL5):c.1767C>T (p.His589=)
|
rs267608645
|
0.00001
|
NM_001329630.2(PLEKHA7):c.2129A>G (p.Asp710Gly)
|
rs952337506
|
0.00001
|
NM_001346810.2(DLGAP2):c.511G>A (p.Asp171Asn)
|
rs770007555
|
0.00001
|
NM_001369268.1(ACAN):c.5221G>C (p.Gly1741Arg)
|
rs748666817
|
0.00001
|
NM_001374828.1(ARID1B):c.1319G>C (p.Gly440Ala)
|
rs1332073619
|
0.00001
|
NM_001394372.1(BICRA):c.1707G>C (p.Gln569His)
|
rs1002065322
|
0.00001
|
NM_001394531.1(WDFY4):c.1642C>A (p.Leu548Met)
|
rs1440445524
|
0.00001
|
NM_002354.3(EPCAM):c.76+21G>C
|
rs762123721
|
0.00001
|
NM_002472.3(MYH8):c.3619G>A (p.Gly1207Arg)
|
rs571189404
|
0.00001
|
NM_004284.6(CHD1L):c.1551A>G (p.Ile517Met)
|
rs376783101
|
0.00001
|
NM_004370.6(COL12A1):c.1216G>A (p.Ala406Thr)
|
rs377285294
|
0.00001
|
NM_005228.5(EGFR):c.1570G>A (p.Val524Ile)
|
rs587778249
|
0.00001
|
NM_005378.6(MYCN):c.614T>C (p.Val205Ala)
|
rs1469113412
|
0.00001
|
NM_005429.5(VEGFC):c.1156C>T (p.Arg386Trp)
|
rs370465436
|
0.00001
|
NM_005429.5(VEGFC):c.571C>G (p.Pro191Ala)
|
rs774139549
|
0.00001
|
NM_005921.2(MAP3K1):c.770C>T (p.Pro257Leu)
|
rs56160159
|
0.00001
|
NM_006231.4(POLE):c.1359+4C>T
|
rs752118019
|
0.00001
|
NM_006231.4(POLE):c.3582+7G>A
|
rs558837073
|
0.00001
|
NM_006303.4(AIMP2):c.31G>C (p.Gly11Arg)
|
rs1786347539
|
0.00001
|
NM_007294.4(BRCA1):c.1258G>T (p.Asp420Tyr)
|
rs80357488
|
0.00001
|
NM_007294.4(BRCA1):c.1401G>A (p.Lys467=)
|
rs786201323
|
0.00001
|
NM_007294.4(BRCA1):c.1797T>C (p.Asn599=)
|
rs756211343
|
0.00001
|
NM_007294.4(BRCA1):c.2468G>T (p.Arg823Ile)
|
rs876659731
|
0.00001
|
NM_007294.4(BRCA1):c.2597G>A (p.Arg866His)
|
rs80356911
|
0.00001
|
NM_007294.4(BRCA1):c.3448C>T (p.Pro1150Ser)
|
rs80357272
|
0.00001
|
NM_007294.4(BRCA1):c.3601G>A (p.Gly1201Ser)
|
rs55725337
|
0.00001
|
NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn)
|
rs78951648
|
0.00001
|
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu)
|
rs80356943
|
0.00001
|
NM_007294.4(BRCA1):c.4910C>T (p.Pro1637Leu)
|
rs80357048
|
0.00001
|
NM_007294.4(BRCA1):c.5573T>C (p.Ile1858Thr)
|
rs755427809
|
0.00001
|
NM_012199.5(AGO1):c.25+7G>A
|
rs1458276516
|
0.00001
|
NM_013447.4(ADGRE2):c.1201G>A (p.Val401Met)
|
rs764173202
|
0.00001
|
NM_013447.4(ADGRE2):c.1531A>G (p.Ile511Val)
|
rs775421833
|
0.00001
|
NM_013447.4(ADGRE2):c.1805T>C (p.Ile602Thr)
|
rs534741485
|
0.00001
|
NM_013447.4(ADGRE2):c.1849A>T (p.Met617Leu)
|
rs781288814
|
0.00001
|
NM_013447.4(ADGRE2):c.199+49T>C
|
rs866778179
|
0.00001
|
NM_013447.4(ADGRE2):c.2376G>A (p.Trp792Ter)
|
rs751384950
|
0.00001
|
NM_013447.4(ADGRE2):c.248C>T (p.Ser83Leu)
|
rs201617124
|
0.00001
|
NM_013447.4(ADGRE2):c.313G>A (p.Gly105Arg)
|
rs990641943
|
0.00001
|
NM_013447.4(ADGRE2):c.440G>T (p.Cys147Phe)
|
rs773115202
|
0.00001
|
NM_014991.6(WDFY3):c.3737A>G (p.Tyr1246Cys)
|
rs751185435
|
0.00001
|
NM_015021.3(ZNF292):c.4892G>A (p.Arg1631Lys)
|
rs1023278362
|
0.00001
|
NM_015021.3(ZNF292):c.7343T>G (p.Val2448Gly)
|
rs1338632938
|
0.00001
|
NM_015103.3(PLXND1):c.4826-4C>G
|
rs918204587
|
0.00001
|
NM_017649.5(CNNM2):c.595G>A (p.Ala199Thr)
|
rs984170802
|
0.00001
|
NM_018489.3(ASH1L):c.7249G>A (p.Ala2417Thr)
|
rs753396609
|
0.00001
|
NM_020634.3(GDF3):c.914T>C (p.Leu305Pro)
|
rs387906945
|
0.00001
|
NM_020695.4(REXO1):c.586G>A (p.Gly196Ser)
|
rs369158434
|
0.00001
|
NM_020975.6(RET):c.3332C>T (p.Thr1111Met)
|
rs1003057639
|
0.00001
|
NM_020987.5(ANK3):c.8174G>A (p.Gly2725Asp)
|
rs993289778
|
0.00001
|
NM_022788.5(P2RY12):c.364C>T (p.Arg122Cys)
|
rs557043245
|
0.00001
|
NM_023110.3(FGFR1):c.358+4G>A
|
rs369853854
|
0.00001
|
NM_024426.6(WT1):c.661+8G>A
|
rs1313565005
|
0.00001
|
NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln)
|
rs587778586
|
0.00001
|
NM_032119.4(ADGRV1):c.13255A>G (p.Met4419Val)
|
rs1373626737
|
0.00001
|
NM_032656.4(DHX37):c.3045C>G (p.Asp1015Glu)
|
rs888734993
|
0.00001
|
NM_032776.3(JMJD1C):c.556C>T (p.Pro186Ser)
|
rs1241903352
|
0.00001
|
NM_170606.3(KMT2C):c.10759C>G (p.Gln3587Glu)
|
rs567451018
|
0.00001
|
NC_000002.12:g.47387047CTT[2]
|
rs151274680
|
|
NC_000002.12:g.47387064C>T
|
rs796191687
|
|
NC_000002.12:g.47387076_47387080dup
|
rs565249366
|
|
NC_000002.12:g.47387079_47387080dup
|
rs565249366
|
|
NC_000002.12:g.47387080dup
|
rs565249366
|
|
NC_000004.12:g.1394562_1394563insCCCATGTGGAGTGCCCGCCTGCTCACACA
|
rs1553889375
|
|
NC_000004.12:g.1394589_1394590insCACATGCCCATGTGGAGTGCCCGCCTGCTCA
|
rs750778284
|
|
NC_000004.12:g.1394590_1394591insACATGCCCATGTGGAGTGCCCGCCTGCTCAT
|
rs1720475916
|
|
NC_000004.12:g.1394590_1394680del
|
rs1720475955
|
|
NC_000010.11:g.3166389_3166390insAGAGAGGAATGGCACGCTAGGGAAG
|
|
|
NC_012920.1:m.11467A>G
|
rs2853493
|
|
NC_012920.1:m.12372G>A
|
rs2853499
|
|
NC_012920.1:m.14753C>T
|
rs527236162
|
|
NC_012920.1:m.14784T>C
|
rs527236163
|
|
NC_012920.1:m.14800C>T
|
rs527236164
|
|
NC_012920.1:m.14935T>C
|
rs527236204
|
|
NC_012920.1:m.14950C>T
|
rs527236166
|
|
NC_012920.1:m.14968T>C
|
rs527236167
|
|
NC_012920.1:m.15049C>T
|
rs527236170
|
|
NC_012920.1:m.15058C>T
|
rs527236171
|
|
NC_012920.1:m.15214T>C
|
rs527236173
|
|
NC_012920.1:m.15259C>T
|
rs527236207
|
|
NC_012920.1:m.15328A>G
|
rs527236178
|
|
NC_012920.1:m.15334C>T
|
rs527236179
|
|
NC_012920.1:m.15349C>T
|
rs527236201
|
|
NC_012920.1:m.15363A>G
|
rs527236182
|
|
NC_012920.1:m.15637C>T
|
rs527236190
|
|
NC_012920.1:m.15649A>G
|
rs527236191
|
|
NC_012920.1:m.15682A>G
|
rs527236192
|
|
NM_000033.4(ABCD1):c.1489-6del
|
rs398123101
|
|
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro)
|
rs201774661
|
|
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp)
|
rs78993751
|
|
NM_000037.4(ANK1):c.*36+989dup
|
rs59908561
|
|
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del)
|
rs386833391
|
|
NM_000038.6(APC):c.370G>A (p.Val124Ile)
|
rs779945112
|
|
NM_000038.6(APC):c.423-4dup
|
rs730881230
|
|
NM_000038.6(APC):c.5723A>G (p.Asn1908Ser)
|
rs1064795748
|
|
NM_000038.6(APC):c.807C>T (p.Ile269=)
|
rs1000878850
|
|
NM_000044.6(AR):c.171GCA[24] (p.Gln80dup)
|
rs3032358
|
|
NM_000047.3(ARSL):c.-14GA[6]
|
rs200332753
|
|
NM_000051.4(ATM):c.1236-10_1236-3dup
|
rs34325032
|
|
NM_000051.4(ATM):c.1236-3del
|
rs34325032
|
|
NM_000051.4(ATM):c.2922-8del
|
rs373881770
|
|
NM_000051.4(ATM):c.3403-13A>T
|
rs1591636037
|
|
NM_000051.4(ATM):c.3403-9C>T
|
rs375483605
|
|
NM_000051.4(ATM):c.3577-30C>T
|
rs751436997
|
|
NM_000051.4(ATM):c.4612-11A>T
|
rs1217349031
|
|
NM_000051.4(ATM):c.4612-12A>T
|
rs1326401118
|
|
NM_000051.4(ATM):c.4612-13A>T
|
rs1267116629
|
|
NM_000051.4(ATM):c.4612-19C>T
|
rs1336477936
|
|
NM_000051.4(ATM):c.6007-27C>T
|
rs1164649351
|
|
NM_000051.4(ATM):c.6007-30C>T
|
rs1425802573
|
|
NM_000051.4(ATM):c.6007-33C>T
|
rs1191788183
|
|
NM_000051.4(ATM):c.6007-34C>T
|
rs1591775892
|
|
NM_000051.4(ATM):c.6347+31del
|
rs58978479
|
|
NM_000051.4(ATM):c.6573-23G>T
|
rs1591127987
|
|
NM_000051.4(ATM):c.6573-26C>A
|
rs1591127920
|
|
NM_000051.4(ATM):c.6573-31G>T
|
rs1274213878
|
|
NM_000051.4(ATM):c.6573-31_6573-30del
|
rs1216821271
|
|
NM_000051.4(ATM):c.6573-34C>T
|
rs767824695
|
|
NM_000051.4(ATM):c.6573-37_6573-36insTTTTTT
|
rs1591127671
|
|
NM_000051.4(ATM):c.6573-41_6573-40del
|
rs758339884
|
|
NM_000051.4(ATM):c.6573-41del
|
rs1271045298
|
|
NM_000051.4(ATM):c.6573-42_6573-41del
|
rs1347499229
|
|
NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile)
|
rs150503164
|
|
NM_000051.4(ATM):c.7630-29G>T
|
rs1591170490
|
|
NM_000051.4(ATM):c.7630-37G>T
|
rs1591170392
|
|
NM_000051.4(ATM):c.7789-15G>T
|
rs781449587
|
|
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly)
|
rs587783315
|
|
NM_000057.4(BLM):c.1087+47T>C
|
rs1299860709
|
|
NM_000057.4(BLM):c.1317G>T (p.Met439Ile)
|
rs1450277471
|
|
NM_000057.4(BLM):c.1469C>G (p.Pro490Arg)
|
rs878853553
|
|
NM_000059.4(BRCA2):c.1045A>G (p.Lys349Glu)
|
rs2072403180
|
|
NM_000059.4(BRCA2):c.122C>T (p.Pro41Leu)
|
rs786201716
|
|
NM_000059.4(BRCA2):c.1730C>T (p.Ala577Val)
|
rs876661280
|
|
NM_000059.4(BRCA2):c.1909+22del
|
rs276174816
|
|
NM_000059.4(BRCA2):c.1909+22dup
|
rs276174816
|
|
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His)
|
rs28897716
|
|
NM_000059.4(BRCA2):c.5352C>A (p.Asn1784Lys)
|
rs1555284187
|
|
NM_000059.4(BRCA2):c.5733T>G (p.Asp1911Glu)
|
rs367823201
|
|
NM_000059.4(BRCA2):c.5744C>A (p.Thr1915Lys)
|
rs4987117
|
|
NM_000059.4(BRCA2):c.6271A>G (p.Ser2091Gly)
|
rs398122550
|
|
NM_000059.4(BRCA2):c.6362A>G (p.Glu2121Gly)
|
rs397507846
|
|
NM_000059.4(BRCA2):c.7015A>G (p.Lys2339Glu)
|
rs2072676209
|
|
NM_000059.4(BRCA2):c.7618-21G>T
|
rs376957350
|
|
NM_000059.4(BRCA2):c.7731A>T (p.Lys2577Asn)
|
rs2137567171
|
|
NM_000059.4(BRCA2):c.7985C>T (p.Thr2662Met)
|
rs431825362
|
|
NM_000059.4(BRCA2):c.8755-32G>T
|
rs1180743142
|
|
NM_000059.4(BRCA2):c.8755-35A>T
|
rs1250232214
|
|
NM_000059.4(BRCA2):c.8755-36G>T
|
rs1194612269
|
|
NM_000059.4(BRCA2):c.8755-38C>T
|
rs1489731992
|
|
NM_000059.4(BRCA2):c.8755-41G>T
|
rs1293323703
|
|
NM_000059.4(BRCA2):c.8854A>G (p.Met2952Val)
|
rs397508016
|
|
NM_000059.4(BRCA2):c.9043A>G (p.Lys3015Glu)
|
rs587781497
|
|
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu)
|
rs80359167
|
|
NM_000077.5(CDKN2A):c.170C>T (p.Ala57Val)
|
rs372266620
|
|
NM_000081.4(LYST):c.7229+50CTTTT[7]
|
rs71174459
|
|
NM_000090.4(COL3A1):c.1663-94_1663-93insCACACACA
|
rs200204993
|
|
NM_000122.2(ERCC3):c.1828-32A>T
|
rs773954881
|
|
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg)
|
rs4253208
|
|
NM_000135.4(FANCA):c.710-142_710-141dup
|
rs17232344
|
|
NM_000136.3(FANCC):c.816C>G (p.Ile272Met)
|
rs55719336
|
|
NM_000138.5(FBN1):c.4583-8G>C
|
rs910464222
|
|
NM_000140.5(FECH):c.163G>T (p.Gly55Cys)
|
rs3848519
|
|
NM_000143.4(FH):c.1237-50TC[20]
|
rs144131869
|
|
NM_000155.4(GALT):c.1060-84_1060-71dup
|
rs56121779
|
|
NM_000168.6(GLI3):c.367+49TG[20]
|
rs34148485
|
|
NM_000179.3(MSH6):c.2062G>A (p.Val688Ile)
|
rs1201347192
|
|
NM_000179.3(MSH6):c.4001+27TAAC[3]
|
rs267608136
|
|
NM_000179.3(MSH6):c.4001+50_4001+51dup
|
rs199687113
|
|
NM_000179.3(MSH6):c.4002-10dup
|
rs59056100
|
|
NM_000179.3(MSH6):c.4002-12_4002-10dup
|
rs59056100
|
|
NM_000179.3(MSH6):c.4002-26_4002-25insCTTT
|
rs1553333916
|
|
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer)
|
rs55740729
|
|
NM_000183.3(HADHB):c.5_7dup (p.Thr2dup)
|
rs3839049
|
|
NM_000199.5(SGSH):c.1159G>A (p.Val387Met)
|
rs62620232
|
|
NM_000208.4(INSR):c.4133G>A (p.Arg1378Gln)
|
rs52826008
|
|
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys)
|
rs137852787
|
|
NM_000209.4(PDX1):c.714GCC[6] (p.Pro244_Gly245insPro)
|
rs193922357
|
|
NM_000238.4(KCNH2):c.326T>G (p.Leu109Arg)
|
rs199473498
|
|
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp)
|
rs104895179
|
|
NM_000245.4(MET):c.1701+58dup
|
rs112241458
|
|
NM_000245.4(MET):c.1701+59G>T
|
rs759007523
|
|
NM_000245.4(MET):c.2584-9del
|
rs57349036
|
|
NM_000249.3(MLH1):c.-107C>G
|
rs587778886
|
|
NM_000249.4(MLH1):c.1039-31_1039-26del
|
rs1178900468
|
|
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr)
|
rs63750449
|
|
NM_000249.4(MLH1):c.1989+11_1989+12del
|
rs2125991370
|
|
NM_000251.3(MSH2):c.2005+59_2005+61dup
|
rs76761634
|
|
NM_000251.3(MSH2):c.2276G>A (p.Gly759Glu)
|
rs386833406
|
|
NM_000251.3(MSH2):c.2575G>A (p.Glu859Lys)
|
rs63749830
|
|
NM_000251.3(MSH2):c.2714C>G (p.Thr905Arg)
|
rs267608022
|
|
NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del)
|
rs267607919
|
|
NM_000251.3(MSH2):c.593A>G (p.Glu198Gly)
|
rs63750327
|
|
NM_000251.3(MSH2):c.67T>C (p.Phe23Leu)
|
rs372619120
|
|
NM_000251.3(MSH2):c.942+10_942+29dup
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+11_942+29dup
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+12_942+29dup
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+13_942+29dup
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+14_942+29dup
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+15_942+29dup
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+16_942+29dup
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+17_942+29dup
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+18_942+29dup
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+19_942+29dup
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+20_942+29dup
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+21_942+29dup
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+22_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+22_942+29dup
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+23_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+23_942+29dup
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+24_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+24_942+29dup
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+25_942+29dup
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+26_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+26_942+29dup
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+27_942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+27_942+29dup
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+28_942+29dup
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+29del
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+29dup
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+7_942+29dup
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+8_942+29dup
|
rs11309117
|
|
NM_000251.3(MSH2):c.942+9_942+29dup
|
rs11309117
|
|
NM_000254.3(MTR):c.*16del
|
rs67705775
|
|
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp)
|
rs200454015
|
|
NM_000260.4(MYO7A):c.3503+12_3503+33del
|
rs111033223
|
|
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp)
|
rs111033287
|
|
NM_000260.4(MYO7A):c.5860C>A (p.Leu1954Ile)
|
rs948962
|
|
NM_000264.5(PTCH1):c.1016A>G (p.Glu339Gly)
|
rs777696239
|
|
NM_000267.3(NF1):c.730+32dup
|
rs71142032
|
|
NM_000276.4(OCRL):c.40-80dup
|
rs369736288
|
|
NM_000277.3(PAH):c.500A>G (p.Asn167Ser)
|
rs77554925
|
|
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn)
|
rs143370956
|
|
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup)
|
rs750077647
|
|
NM_000313.4(PROS1):c.119G>T (p.Arg40Leu)
|
rs7614835
|
|
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.577C>T (p.Leu193=)
|
rs772631069
|
|
NM_000314.8(PTEN):c.802-3dup
|
rs34003473
|
|
NM_000314.8(PTEN):c.802-5_802-3del
|
rs34003473
|
|
NM_000321.3(RB1):c.1128-45C>T
|
rs1285629437
|
|
NM_000321.3(RB1):c.2212-13_2212-12insTTTTTTTT
|
rs1593539077
|
|
NM_000321.3(RB1):c.2212-16dup
|
rs553094345
|
|
NM_000321.3(RB1):c.2212-17_2212-16del
|
rs553094345
|
|
NM_000321.3(RB1):c.2212-17_2212-16dup
|
rs553094345
|
|
NM_000321.3(RB1):c.2212-18_2212-16del
|
rs553094345
|
|
NM_000321.3(RB1):c.2212-18_2212-16dup
|
rs553094345
|
|
NM_000321.3(RB1):c.2212-29_2212-16dup
|
rs553094345
|
|
NM_000321.3(RB1):c.2212-37_2212-16dup
|
rs553094345
|
|
NM_000321.3(RB1):c.2212-9C>A
|
rs765386327
|
|
NM_000335.5(SCN5A):c.373G>C (p.Val125Leu)
|
rs199473059
|
|
NM_000337.6(SGCD):c.226G>T (p.Gly76Cys)
|
rs376659221
|
|
NM_000337.6(SGCD):c.699+13_699+15del
|
rs397517924
|
|
NM_000346.4(SOX9):c.1061_1069del (p.Pro354_Pro356del)
|
rs761585795
|
|
NM_000363.5(TNNI3):c.12-7del
|
rs370714315
|
|
NM_000368.5(TSC1):c.1333+9T>A
|
rs747629498
|
|
NM_000369.5(TSHR):c.1429A>C (p.Thr477Pro)
|
rs1595178231
|
|
NM_000370.3(TTPA):c.359-3del
|
rs398123340
|
|
NM_000379.4(XDH):c.2969+66dup
|
rs11408029
|
|
NM_000383.4(AIRE):c.1095+78del
|
rs5844181
|
|
NM_000384.3(APOB):c.1853C>T (p.Ala618Val)
|
|
|
NM_000384.3(APOB):c.8216C>T (p.Pro2739Leu)
|
|
|
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
|
|
|
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val)
|
rs138967272
|
|
NM_000455.5(STK11):c.*16+6G>A
|
rs2145436787
|
|
NM_000455.5(STK11):c.*17-6C>G
|
rs866505758
|
|
NM_000455.5(STK11):c.-107dup
|
rs927999961
|
|
NM_000455.5(STK11):c.465-4G>A
|
rs587780009
|
|
NM_000459.5(TEK):c.2228G>C (p.Gly743Ala)
|
rs202131936
|
|
NM_000465.4(BARD1):c.*119G>A
|
rs1378645134
|
|
NM_000465.4(BARD1):c.*122_*123del
|
rs1310441861
|
|
NM_000465.4(BARD1):c.*136_*138dup
|
rs113789798
|
|
NM_000465.4(BARD1):c.*137_*138dup
|
rs113789798
|
|
NM_000465.4(BARD1):c.*138del
|
rs113789798
|
|
NM_000465.4(BARD1):c.216-13_216-12del
|
rs1491038786
|
|
NM_000492.3(CFTR):c.1210-12T[9]
|
rs1805177
|
|
NM_000493.4(COL10A1):c.*6_*7insCCC
|
rs140722
|
|
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu)
|
rs184649564
|
|
NM_000508.5(FGA):c.2587del (p.Leu863_Val864insTer)
|
rs773678959
|
|
NM_000518.4(HBB):c.157G>A (p.Asp53Asn)
|
rs33961886
|
|
NM_000522.5(HOXA13):c.381CGC[5] (p.Ala133del)
|
rs955237055
|
|
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
|
|
|
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
|
|
|
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
|
|
|
NM_000535.7(PMS2):c.706-4del
|
rs60794673
|
|
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)
|
rs150396398
|
|
NM_000545.8(HNF1A):c.-124G>C
|
rs563304627
|
|
NM_000546.6(TP53):c.145G>C (p.Asp49His)
|
rs587780728
|
|
NM_000546.6(TP53):c.256G>A (p.Ala86Thr)
|
rs587782148
|
|
NM_000546.6(TP53):c.560-9T>G
|
rs794727781
|
|
NM_000546.6(TP53):c.997C>T (p.Arg333Cys)
|
rs769934890
|
|
NM_000551.4(VHL):c.154G>A (p.Glu52Lys)
|
rs373068386
|
|
NM_000552.5(VWF):c.5053+82C>T
|
rs75717362
|
|
NM_000553.6(WRN):c.839+25del
|
rs370040831
|
|
NM_000718.4(CACNA1B):c.2986_3000del (p.Thr996_Glu1000del)
|
rs145816559
|
|
NM_000718.4(CACNA1B):c.501C>G (p.Asn167Lys)
|
rs4422842
|
|
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del)
|
rs575583988
|
|
NM_000751.3(CHRND):c.199-90_199-89insAAGA
|
rs113930536
|
|
NM_000937.5(POLR2A):c.5511_5512= (p.Pro1837_Lys1838=)
|
rs1490940612
|
|
NM_000939.4(POMC):c.394C>G (p.Pro132Ala)
|
rs8192606
|
|
NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu)
|
rs587777885
|
|
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser)
|
rs139734328
|
|
NM_001018115.3(FANCD2):c.1135-25G>A
|
rs201770712
|
|
NM_001018115.3(FANCD2):c.1137G>T (p.Val379=)
|
rs72492997
|
|
NM_001018115.3(FANCD2):c.1179T>C (p.Thr393=)
|
rs72492998
|
|
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.3777+83_3777+86del
|
rs773716319
|
|
NM_001023570.4(IQCB1):c.1410+74AT[4]
|
rs1553709033
|
|
NM_001023570.4(IQCB1):c.1410+81GT[17]
|
rs57816005
|
|
NM_001029883.3(PCARE):c.3673_3675dupAGC
|
|
|
NM_001031710.3(KLHL7):c.936+3731_936+3735del
|
rs141774430
|
|
NM_001039141.3(TRIOBP):c.1193_1195del (p.Gln398del)
|
rs55745992
|
|
NM_001040142.2(SCN2A):c.3040A>T (p.Ile1014Phe)
|
rs2105336961
|
|
NM_001042492.3(NF1):c.3198-4dup
|
rs371047262
|
|
NM_001042492.3(NF1):c.3974+23A>T
|
rs376217184
|
|
NM_001042492.3(NF1):c.4578-12dup
|
rs1597748630
|
|
NM_001042517.2(DIAPH3):c.1840C>A (p.Pro614Thr)
|
rs200018583
|
|
NM_001042545.2(LTBP4):c.3035dup (p.Tyr1013fs)
|
rs59030801
|
|
NM_001042646.3(TRAK1):c.1963+101GGA[12]
|
rs10634555
|
|
NM_001048174.2(MUTYH):c.606+21C>A
|
rs148552450
|
|
NM_001048174.2(MUTYH):c.704+16A>G
|
rs747251904
|
|
NM_001079668.3(NKX2-1):c.464-2A>T
|
rs587776708
|
|
NM_001079843.3(CASZ1):c.2816+8G>A
|
rs1184543145
|
|
NM_001080.3(ALDH5A1):c.1014+60TG[6]
|
rs199737070
|
|
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu)
|
rs141621969
|
|
NM_001098484.3(SLC4A4):c.1904-74_1904-73del
|
rs747897537
|
|
NM_001099271.2(POC5):c.1336G>A (p.Ala446Thr)
|
rs34678567
|
|
NM_001109878.2(TBX22):c.-2-7C>G
|
rs185298778
|
|
NM_001110792.2(MECP2):c.62+5503del
|
rs372915987
|
|
NM_001111125.3(IQSEC2):c.1553T>C (p.Leu518Pro)
|
rs987032967
|
|
NM_001126049.2(KLLN):c.80G>C (p.Arg27Pro)
|
rs899815496
|
|
NM_001127222.2(CACNA1A):c.2720A>G (p.Glu907Gly)
|
rs2144955398
|
|
NM_001127255.2(NLRP7):c.1137G>C (p.Lys379Asn)
|
rs10418277
|
|
NM_001128164.2(ATXN1):c.772G>T (p.Gly258Cys)
|
rs144962740
|
|
NM_001130987.2(DYSF):c.460+2T>G
|
rs750356247
|
|
NM_001134771.2(SLC12A5):c.121+1091_121+1111del
|
rs879435751
|
|
NM_001134771.2(SLC12A5):c.121+1092_121+1093insGAGG
|
rs1600581884
|
|
NM_001134771.2(SLC12A5):c.121+1106_121+1132del
|
rs912238609
|
|
NM_001135998.3(NDUFB11):c.416C>T (p.Ser139Phe)
|
rs2147049461
|
|
NM_001148.6(ANK2):c.2806C>G (p.Leu936Val)
|
rs786205725
|
|
NM_001161352.2(KCNMA1):c.179C>T (p.Ser60Leu)
|
rs768769748
|
|
NM_001162498.3(LPAR6):c.341_344del (p.Arg114fs)
|
rs1198561901
|
|
NM_001162498.3(LPAR6):c.347del (p.Leu116fs)
|
rs1404056158
|
|
NM_001162498.3(LPAR6):c.350_352del (p.Ala117_Ile118delinsVal)
|
rs1200570253
|
|
NM_001162498.3(LPAR6):c.354T>G (p.Ile118Met)
|
rs1458608158
|
|
NM_001162498.3(LPAR6):c.358T>G (p.Tyr120Asp)
|
rs1344531248
|
|
NM_001162498.3(LPAR6):c.359del (p.Tyr120fs)
|
rs1275629547
|
|
NM_001162498.3(LPAR6):c.361_362insGTAT (p.Pro121fs)
|
rs1236830240
|
|
NM_001162498.3(LPAR6):c.366T>A (p.Phe122Leu)
|
rs977436301
|
|
NM_001164277.2(SLC37A4):c.527= (p.Cys176=)
|
rs56966114
|
|
NM_001164508.2(NEB):c.17635-3dup
|
rs3214503
|
|
NM_001173990.3(TMEM216):c.432-1G>C
|
rs10897158
|
|
NM_001174150.2(ARL13B):c.486+22del
|
rs368491848
|
|
NM_001174150.2(ARL13B):c.486+22dup
|
rs368491848
|
|
NM_001182.5(ALDH7A1):c.246+7GT[16]
|
rs142510783
|
|
NM_001182.5(ALDH7A1):c.914-118dup
|
rs759132307
|
|
NM_001184.4(ATR):c.1885+65ATTT[8]
|
rs56661838
|
|
NM_001191061.2(SLC25A22):c.-164+135dup
|
rs1312807369
|
|
NM_001211.6(BUB1B):c.385-2460_385-2453dup
|
rs979967281
|
|
NM_001244008.2(KIF1A):c.2721GGA[9] (p.Glu916_Glu917del)
|
rs10594016
|
|
NM_001256071.3(RNF213):c.12942+97del
|
rs142169239
|
|
NM_001270.4(CHD1):c.2983A>G (p.Ile995Val)
|
rs2112391566
|
|
NM_001270974.2(HYDIN):c.13900-73A>G
|
rs1770438
|
|
NM_001273.5(CHD4):c.4610C>T (p.Ser1537Phe)
|
rs2136202008
|
|
NM_001276345.2(TNNT2):c.53-11_53-7del
|
rs45533739
|
|
NM_001278064.2(GRM1):c.950+8TC[21]
|
rs72225459
|
|
NM_001278116.2(L1CAM):c.-109+234del
|
rs199975679
|
|
NM_001278116.2(L1CAM):c.-109+238_-109+239insGG
|
rs143464562
|
|
NM_001287344.2(BTK):c.27G>A (p.Met9Ile)
|
rs1352616578
|
|
NM_001289125.3(IFNAR2):c.541-50A>G
|
|
|
NM_001291088.2(WDR87):c.6889GAGGAGGAGGAGGAAAGG[1] (p.2285EEEEER[3])
|
rs763153590
|
|
NM_001301202.2(RASAL1):c.982C>T (p.Arg328Trp)
|
rs35505918
|
|
NM_001303052.2(MYT1L):c.1-10C>G
|
rs2149492098
|
|
NM_001308093.3(GATA4):c.1000+103G>T
|
rs113049875
|
|
NM_001347721.2(DYRK1A):c.955C>A (p.Arg319=)
|
rs113004433
|
|
NM_001351132.2(PEX5):c.1561-44_1561-43insTCTGAGTCGGTGGAGTAATGTGCAGAGTTTGA
|
rs141721291
|
|
NM_001351132.2(PEX5):c.551+113_551+114dup
|
rs5796268
|
|
NM_001365536.1(SCN9A):c.1975-3dup
|
rs35888674
|
|
NM_001367721.1(CASK):c.2569A>G (p.Ile857Val)
|
rs2147067640
|
|
NM_001370259.2(MEN1):c.655-6C>A
|
rs77461664
|
|
NM_001370259.2(MEN1):c.655-6C>G
|
rs77461664
|
|
NM_001371623.1(TCOF1):c.4087AAG[4] (p.Lys1367del)
|
rs773205979
|
|
NM_001371986.1(UNC80):c.1936C>T (p.His646Tyr)
|
rs1467598370
|
|
NM_001372078.1(REV3L):c.35A>G (p.Tyr12Cys)
|
rs1174220169
|
|
NM_001374828.1(ARID1B):c.5652C>G (p.Ser1884Arg)
|
rs1195428885
|
|
NM_001374828.1(ARID1B):c.591GCA[9] (p.Gln213_Gln214dup)
|
rs587779743
|
|
NM_001375380.1(EBF3):c.1373-11del
|
rs68001511
|
|
NM_001375765.1(GIGYF1):c.407G>A (p.Arg136Lys)
|
rs886069639
|
|
NM_001378120.1(MBD5):c.2127T>A (p.Ser709Arg)
|
rs763873615
|
|
NM_001378120.1(MBD5):c.644G>A (p.Arg215His)
|
rs771325235
|
|
NM_001378414.1(HDAC4):c.95-98del
|
rs74761897
|
|
NM_001378418.1(TCF20):c.2213G>C (p.Gly738Ala)
|
rs2147212800
|
|
NM_001378418.1(TCF20):c.2990G>T (p.Gly997Val)
|
rs1921043988
|
|
NM_001378418.1(TCF20):c.326G>A (p.Arg109Gln)
|
rs1921560491
|
|
NM_001378452.1(ITPR1):c.4407+44GT[18]
|
rs35795762
|
|
NM_001378454.1(ALMS1):c.1433-64dup
|
rs66492706
|
|
NM_001378454.1(ALMS1):c.1571CTC[1] (p.Pro525del)
|
rs34628045
|
|
NM_001379110.1(SLC9A6):c.1080+80dup
|
rs35492327
|
|
NM_001379500.1(COL18A1):c.2157+79dup
|
rs148502711
|
|
NM_001379500.1(COL18A1):c.2829CCCAGGCCC[1] (p.938PGP[3])
|
rs78227997
|
|
NM_001382347.1(MYO5A):c.1543-84del
|
rs71425744
|
|
NM_001382430.1(AKT1):c.1364-3C>T
|
rs113777945
|
|
NM_001388419.1(KALRN):c.1624G>A (p.Val542Ile)
|
rs1056310843
|
|
NM_001394062.1(MACF1):c.20222A>T (p.Asp6741Val)
|
rs2148674816
|
|
NM_001394372.1(BICRA):c.4367C>T (p.Ala1456Val)
|
rs963884506
|
|
NM_001394531.1(WDFY4):c.3098+4T>G
|
rs2066052443
|
|
NM_001395058.1(MYO15B):c.8156+19C>G
|
|
|
NM_001429.4(EP300):c.5633C>A (p.Thr1878Asn)
|
rs1484157418
|
|
NM_001429.4(EP300):c.5832C>G (p.His1944Gln)
|
rs142885571
|
|
NM_001556.3(IKBKB):c.2023A>G (p.Ser675Gly)
|
rs1386860765
|
|
NM_001715.3(BLK):c.391C>T (p.Arg131Trp)
|
rs73663163
|
|
NM_001843.4(CNTN1):c.1805-9354del
|
rs544761896
|
|
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu)
|
rs186233557
|
|
NM_001844.5(COL2A1):c.2679+69dup
|
rs11443755
|
|
NM_001849.4(COL6A2):c.1817-3dup
|
rs149954350
|
|
NM_001875.5(CPS1):c.3666+77dup
|
rs61108700
|
|
NM_001903.5(CTNNA1):c.1063-8T>G
|
rs1581473850
|
|
NM_001903.5(CTNNA1):c.1389+10A>T
|
rs1051113761
|
|
NM_001927.4(DES):c.897+4_897+5del
|
rs397516699
|
|
NM_001953.4(TYMP):c.929-6_929-3del
|
rs201685922
|
|
NM_001957.4(EDNRA):c.1259G>C (p.Ser420Thr)
|
rs200945454
|
|
NM_001999.4(FBN2):c.4118T>C (p.Ile1373Thr)
|
rs971727405
|
|
NM_002087.4(GRN):c.350-50_350-47dup
|
rs34424835
|
|
NM_002168.4(IDH2):c.1179-3T>A
|
rs772170724
|
|
NM_002203.4(ITGA2):c.2236-62T>C
|
rs2287871
|
|
NM_002249.6(KCNN3):c.200AGC[10] (p.Gln77_Gln80del)
|
rs3831942
|
|
NM_002249.6(KCNN3):c.200AGC[11] (p.Gln78_Gln80del)
|
rs3831942
|
|
NM_002249.6(KCNN3):c.200AGC[12] (p.Gln79_Gln80del)
|
rs3831942
|
|
NM_002249.6(KCNN3):c.200AGC[13] (p.Gln80del)
|
rs3831942
|
|
NM_002249.6(KCNN3):c.200AGC[15] (p.Gln80dup)
|
rs3831942
|
|
NM_002249.6(KCNN3):c.200AGC[16] (p.Gln79_Gln80dup)
|
rs3831942
|
|
NM_002249.6(KCNN3):c.200AGC[17] (p.Gln78_Gln80dup)
|
rs3831942
|
|
NM_002249.6(KCNN3):c.200AGC[18] (p.Gln77_Gln80dup)
|
rs3831942
|
|
NM_002249.6(KCNN3):c.200AGC[19] (p.Gln76_Gln80dup)
|
rs3831942
|
|
NM_002249.6(KCNN3):c.200AGC[20] (p.Gln75_Gln80dup)
|
rs3831942
|
|
NM_002249.6(KCNN3):c.200AGC[21] (p.Gln74_Gln80dup)
|
rs3831942
|
|
NM_002249.6(KCNN3):c.200AGC[22] (p.Gln73_Gln80dup)
|
rs3831942
|
|
NM_002249.6(KCNN3):c.200AGC[23] (p.Gln72_Gln80dup)
|
rs3831942
|
|
NM_002249.6(KCNN3):c.200AGC[24] (p.Gln71_Gln80dup)
|
rs3831942
|
|
NM_002249.6(KCNN3):c.200AGC[5] (p.Gln72_Gln80del)
|
rs3831942
|
|
NM_002249.6(KCNN3):c.200AGC[7] (p.Gln74_Gln80del)
|
rs3831942
|
|
NM_002249.6(KCNN3):c.200AGC[8] (p.Gln75_Gln80del)
|
rs3831942
|
|
NM_002249.6(KCNN3):c.200AGC[9] (p.Gln76_Gln80del)
|
rs3831942
|
|
NM_002249.6(KCNN3):c.241_242insAGCACCAGCAGC (p.Gln80_Pro81insGlnHisGlnGln)
|
rs1553242200
|
|
NM_002249.6(KCNN3):c.241_242insAGCAGCAGCAGCCAC (p.Gln80_Pro81insGlnGlnGlnGlnPro)
|
rs1553242199
|
|
NM_002272.4(KRT4):c.259_260insCCGGCGGCTTCGGAGCTGGTTTCGGCACTGGTGGCTTTGGTG (p.Gly86_Gly87insAlaGlyGlyPheGlyAlaGlyPheGlyThrGlyGlyPheGly)
|
rs11267392
|
|
NM_002332.3(LRP1):c.300C>T (p.Asp100=)
|
rs1799986
|
|
NM_002354.3(EPCAM):c.345G>C (p.Met115Ile)
|
rs115212523
|
|
NM_002421.4(MMP1):c.105+115del
|
rs5794198
|
|
NM_002470.4(MYH3):c.349-94dup
|
rs370073463
|
|
NM_002470.4(MYH3):c.4957-115CAAAA[3]
|
rs137999435
|
|
NM_002485.5(NBN):c.179C>A (p.Thr60Lys)
|
rs1586109164
|
|
NM_002485.5(NBN):c.585-10A>G
|
rs2129840066
|
|
NM_002500.5(NEUROD1):c.723C>G (p.His241Gln)
|
rs561017686
|
|
NM_002691.4(POLD1):c.19C>T (p.Pro7Ser)
|
rs2122193847
|
|
NM_002691.4(POLD1):c.3316G>A (p.Ala1106Thr)
|
rs778990190
|
|
NM_002769.5(PRSS1):c.161A>G (p.Asn54Ser)
|
rs144422014
|
|
NM_002769.5(PRSS1):c.200+1G>A
|
rs143909348
|
|
NM_002880.4(RAF1):c.834+8G>A
|
rs727504615
|
|
NM_002907.4(RECQL):c.1856A>T (p.Asn619Ile)
|
rs2137305371
|
|
NM_002907.4(RECQL):c.395-5T>C
|
rs2137388604
|
|
NM_002907.4(RECQL):c.501+15C>T
|
rs373601640
|
|
NM_002979.5(SCP2):c.70-47del
|
rs143386725
|
|
NM_003000.3(SDHB):c.73-21G>T
|
rs1311107626
|
|
NM_003068.5(SNAI2):c.364G>A (p.Ala122Thr)
|
rs907510990
|
|
NM_003070.5(SMARCA2):c.669GCA[11] (p.Gln237_Gln238del)
|
rs113070757
|
|
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)
|
rs35766612
|
|
NM_003289.4(TPM2):c.773-3dup
|
rs35401252
|
|
NM_003392.7(WNT5A):c.332G>A (p.Arg111Gln)
|
rs2106945475
|
|
NM_003482.4(KMT2D):c.6058C>T (p.Pro2020Ser)
|
rs939099741
|
|
NM_003512.4(H2AC6):c.392G>T (p.Ter131Leu)
|
rs1484017288
|
|
NM_003560.4(PLA2G6):c.798-22A>T
|
rs372731031
|
|
NM_003690.5(PRKRA):c.22_23del (p.Ala8fs)
|
rs141354030
|
|
NM_003722.5(TP63):c.324+7G>A
|
rs930341004
|
|
NM_004004.6(GJB2):c.412A>G (p.Ser138Gly)
|
rs397516876
|
|
NM_004006.3(DMD):c.9564-536A>C
|
rs918777788
|
|
NM_004064.5(CDKN1B):c.476-5C>G
|
rs370509436
|
|
NM_004171.4(SLC1A2):c.1092-6T>C
|
rs2134719255
|
|
NM_004316.4(ASCL1):c.151CAG[10] (p.Gln61_Gln62del)
|
rs3832799
|
|
NM_004333.6(BRAF):c.2128-28dup
|
rs60814637
|
|
NM_004360.5(CDH1):c.820G>A (p.Gly274Ser)
|
rs781513008
|
|
NM_004484.4(GPC3):c.338-5del
|
rs370737647
|
|
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser)
|
rs74582884
|
|
NM_004523.4(KIF11):c.1435G>C (p.Glu479Gln)
|
rs547554309
|
|
NM_004577.4(PSPH):c.81A>T (p.Arg27Ser)
|
rs74445297
|
|
NM_004715.5(CTDP1):c.2418-207_2418-165dup
|
rs147933855
|
|
NM_004795.4(KL):c.2702-59dup
|
rs34137141
|
|
NM_004836.7(EIF2AK3):c.40CTG[7] (p.Leu21del)
|
rs1805190
|
|
NM_004946.3(DOCK2):c.169-72G>C
|
rs2306564
|
|
NM_004960.4(FUS):c.518_523del
|
|
|
NM_004970.3(IGFALS):c.958C>T (p.Gln320Ter)
|
rs768231769
|
|
NM_004975.4(KCNB1):c.2396G>A (p.Ser799Asn)
|
rs1256695300
|
|
NM_004994.3(MMP9):c.1721G>C (p.Arg574Pro)
|
rs2250889
|
|
NM_005006.7(NDUFS1):c.154-126TAGA[8]
|
rs3217140
|
|
NM_005006.7(NDUFS1):c.154-126TAGA[9]
|
rs3217140
|
|
NM_005120.3(MED12):c.4416-77CTCTT[14]
|
rs56658066
|
|
NM_005188.4(CBL):c.1485G>C (p.Pro495=)
|
rs2229072
|
|
NM_005199.5(CHRNG):c.921-68del
|
rs10714586
|
|
NM_005210.4(CRYGB):c.10-38del
|
rs3214759
|
|
NM_005245.4(FAT1):c.3770G>A (p.Arg1257Gln)
|
rs188188069
|
|
NM_005392.4(PHF2):c.325C>T (p.Pro109Ser)
|
rs1188481995
|
|
NM_005429.5(VEGFC):c.1123A>C (p.Lys375Gln)
|
rs2110962728
|
|
NM_005429.5(VEGFC):c.572C>G (p.Pro191Arg)
|
rs770761859
|
|
NM_005429.5(VEGFC):c.629G>A (p.Arg210Gln)
|
rs377096543
|
|
NM_005429.5(VEGFC):c.79GCC[6] (p.Ala31dup)
|
rs754628535
|
|
NM_005429.5(VEGFC):c.974C>T (p.Pro325Leu)
|
rs768802006
|
|
NM_005448.2(BMP15):c.13A>C (p.Ser5Arg)
|
rs113099187
|
|
NM_005475.3(SH2B3):c.112G>A (p.Ala38Thr)
|
rs2135547121
|
|
NM_005523.6(HOXA11):c.489G>C (p.Lys163Asn)
|
rs893792932
|
|
NM_005525.4(HSD11B1):c.331+53dup
|
rs45487298
|
|
NM_005559.4(LAMA1):c.2274+70dup
|
rs113133818
|
|
NM_005850.5(SF3B4):c.1060dup (p.Arg354fs)
|
rs782357237
|
|
NM_005921.2(MAP3K1):c.5CGG[5] (p.Ala5dup)
|
rs779149827
|
|
NM_005994.4(TBX2):c.1160C>T (p.Pro387Leu)
|
rs1603241604
|
|
NM_006015.6(ARID1A):c.4538G>A (p.Ser1513Asn)
|
rs2124120299
|
|
NM_006015.6(ARID1A):c.4927C>A (p.Pro1643Thr)
|
rs1454897845
|
|
NM_006015.6(ARID1A):c.5438C>T (p.Pro1813Leu)
|
rs1373371414
|
|
NM_006073.4(TRDN):c.1313T>G (p.Ile438Ser)
|
rs2873479
|
|
NM_006079.5(CITED2):c.574_579del (p.Ser192_Gly193del)
|
rs751501072
|
|
NM_006563.5(KLF1):c.13G>A (p.Glu5Lys)
|
rs483352842
|
|
NM_006563.5(KLF1):c.519_525dup (p.Gly176fs)
|
rs483352838
|
|
NM_006563.5(KLF1):c.809C>G (p.Ser270Trp)
|
rs558942739
|
|
NM_006662.3(SRCAP):c.4543C>A (p.Leu1515Met)
|
rs1246765240
|
|
NM_006721.4(ADK):c.727-8del
|
rs112610475
|
|
NM_006766.5(KAT6A):c.2501A>C (p.Lys834Thr)
|
rs2150861823
|
|
NM_006767.4(LZTR1):c.26G>C (p.Gly9Ala)
|
rs756485244
|
|
NM_006885.4(ZFHX3):c.10142_10165del (p.Arg3381_Gln3388del)
|
rs727502780
|
|
NM_006885.4(ZFHX3):c.6329T>C (p.Leu2110Ser)
|
rs1220435409
|
|
NM_006885.4(ZFHX3):c.8450C>G (p.Ser2817Cys)
|
rs2035818390
|
|
NM_007055.4(POLR3A):c.1745G>A (p.Arg582His)
|
rs34588967
|
|
NM_007129.5(ZIC2):c.1365AGCGGCGGCGGC[1] (p.Ala467_Ala470del)
|
rs755522720
|
|
NM_007146.3(VEZF1):c.1046_1047insGCAACAACA (p.Gln352_Gln354dup)
|
rs914850486
|
|
NM_007255.3(B4GALT7):c.413+60C>G
|
rs28499092
|
|
NM_007294.4(BRCA1):c.-20+152A>G
|
rs1412775379
|
|
NM_007294.4(BRCA1):c.1106_1108del (p.Asp369del)
|
rs80358325
|
|
NM_007294.4(BRCA1):c.1912G>A (p.Glu638Lys)
|
rs80357005
|
|
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu)
|
rs799917
|
|
NM_007294.4(BRCA1):c.2798G>C (p.Gly933Ala)
|
rs80356941
|
|
NM_007294.4(BRCA1):c.441+36_441+49del
|
rs373413425
|
|
NM_007294.4(BRCA1):c.5095C>A (p.Arg1699=)
|
rs55770810
|
|
NM_007294.4(BRCA1):c.5152+80del
|
rs902919427
|
|
NM_007294.4(BRCA1):c.577A>G (p.Lys193Glu)
|
rs878854962
|
|
NM_007294.4(BRCA1):c.652T>G (p.Leu218Val)
|
rs765950064
|
|
NM_007294.4(BRCA1):c.81-14C>T
|
rs80358006
|
|
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser)
|
rs8176153
|
|
NM_007325.5(GRIA3):c.268+16762dup
|
rs11452643
|
|
NM_012200.4(B3GAT3):c.909+263C>G
|
rs12794886
|
|
NM_012203.2(GRHPR):c.83+52del
|
rs35891798
|
|
NM_013275.6(ANKRD11):c.7061C>A (p.Pro2354His)
|
rs749176560
|
|
NM_013436.5(NCKAP1):c.948-6A>C
|
rs2105858704
|
|
NM_013447.4(ADGRE2):c.1230G>A (p.Met410Ile)
|
rs1005458732
|
|
NM_013447.4(ADGRE2):c.1629del (p.Gly543_Leu544insTer)
|
rs747459594
|
|
NM_013447.4(ADGRE2):c.1780G>T (p.Gly594Ter)
|
rs148074899
|
|
NM_013447.4(ADGRE2):c.1805_1806insGATGCTGTGCTCCATCAT (p.Ile601_Ile602insMetMetLeuCysSerIle)
|
rs2147228178
|
|
NM_013447.4(ADGRE2):c.1820del (p.His607fs)
|
rs2147227822
|
|
NM_013447.4(ADGRE2):c.208G>A (p.Glu70Lys)
|
rs1010286043
|
|
NM_013447.4(ADGRE2):c.2092_2093insCG (p.Val698fs)
|
rs781071720
|
|
NM_013447.4(ADGRE2):c.2094_2095insCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCC (p.Asn699delinsLeuGlyLeuGlnAlaTer)
|
rs757195659
|
|
NM_013447.4(ADGRE2):c.2095_2096insGCCACCGCGCCCGGCCA (p.Asn699fs)
|
rs751299935
|
|
NM_013447.4(ADGRE2):c.2138G>T (p.Arg713Ile)
|
rs200295887
|
|
NM_013447.4(ADGRE2):c.2184-17_2184-3del
|
rs2147142509
|
|
NM_013447.4(ADGRE2):c.2235G>A (p.Trp745Ter)
|
rs2147141875
|
|
NM_013447.4(ADGRE2):c.437A>C (p.Gln146Pro)
|
rs776396018
|
|
NM_013447.4(ADGRE2):c.498A>C (p.Glu166Asp)
|
rs2147439161
|
|
NM_013447.4(ADGRE2):c.524A>C (p.His175Pro)
|
rs191200474
|
|
NM_013447.4(ADGRE2):c.52_53del (p.Leu18fs)
|
rs751894825
|
|
NM_013447.4(ADGRE2):c.5G>A (p.Gly2Glu)
|
rs757681429
|
|
NM_013447.4(ADGRE2):c.731G>C (p.Trp244Ser)
|
rs1209239626
|
|
NM_014000.3(VCL):c.2862_2864del (p.Leu955del)
|
rs397517237
|
|
NM_014049.5(ACAD9):c.808+63GT[14]
|
rs63473460
|
|
NM_014053.4(FLVCR1):c.1413+82TTG[6]
|
rs41300975
|
|
NM_014141.6(CNTNAP2):c.2773+76del
|
rs5888307
|
|
NM_014244.5(ADAMTS2):c.47TGC[9] (p.Leu23dup)
|
rs568040559
|
|
NM_014423.4(AFF4):c.2485G>C (p.Gly829Arg)
|
rs763295786
|
|
NM_014822.4(SEC24D):c.483T>G (p.Pro161=)
|
rs2389688
|
|
NM_014889.4(PITRM1):c.267-12_267-11insTCACCTTCCCTAGCGTGCCATTGC
|
rs572476455
|
|
NM_014991.6(WDFY3):c.6086C>T (p.Ser2029Phe)
|
rs2149233741
|
|
NM_014991.6(WDFY3):c.9726+6T>C
|
rs1282480242
|
|
NM_015001.3(SPEN):c.478G>A (p.Asp160Asn)
|
rs2148712038
|
|
NM_015021.3(ZNF292):c.7498G>A (p.Val2500Ile)
|
rs915267492
|
|
NM_015021.3(ZNF292):c.8026G>A (p.Asp2676Asn)
|
|
|
NM_015335.5(MED13L):c.3913C>T (p.His1305Tyr)
|
rs1231044656
|
|
NM_015346.4(ZFYVE26):c.4370G>A (p.Cys1457Tyr)
|
rs2235967
|
|
NM_015474.4(SAMHD1):c.626-64_626-63del
|
rs529639777
|
|
NM_015559.3(SETBP1):c.4598C>T (p.Pro1533Leu)
|
rs2073923280
|
|
NM_016373.4(WWOX):c.535G>A (p.Ala179Thr)
|
rs11545029
|
|
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del)
|
rs150384171
|
|
NM_017514.5(PLXNA3):c.2589G>C (p.Glu863Asp)
|
rs5945430
|
|
NM_017780.4(CHD7):c.1472T>A (p.Ile491Asn)
|
rs1383452692
|
|
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup)
|
rs377139749
|
|
NM_018122.5(DARS2):c.127+94ATT[10]
|
rs55949406
|
|
NM_018392.5(ZGRF1):c.142C>A (p.Leu48Met)
|
rs61745597
|
|
NM_018418.4(SPATA7):c.20_23del
|
rs527236050
|
|
NM_018418.5(SPATA7):c.19+102del
|
rs5810413
|
|
NM_018451.5(CENPJ):c.61A>G (p.Met21Val)
|
rs35498994
|
|
NM_018896.5(CACNA1G):c.2979+15A>G
|
rs1403007762
|
|
NM_018896.5(CACNA1G):c.354+5GT[13]
|
rs3833150
|
|
NM_018896.5(CACNA1G):c.5742C>A (p.His1914Gln)
|
rs200604758
|
|
NM_019109.5(ALG1):c.208+16_208+19dup
|
rs35400794
|
|
NM_020166.5(MCCC1):c.273+53A>C
|
rs3732604
|
|
NM_020223.4(FAM20C):c.953_956+30dup
|
rs771282640
|
|
NM_020297.4(ABCC9):c.4450-5del
|
rs4148680
|
|
NM_020431.4(TMEM63C):c.343A>G (p.Thr115Ala)
|
rs995111248
|
|
NM_020549.5(CHAT):c.1381G>A (p.Val461Met)
|
rs4838544
|
|
NM_020759.3(STARD9):c.6300G>C (p.Arg2100Ser)
|
rs1043312563
|
|
NM_020822.3(KCNT1):c.2009-3C>T
|
rs2131520063
|
|
NM_020822.3(KCNT1):c.600+71dup
|
rs879903723
|
|
NM_020859.4(SHROOM3):c.179G>T (p.Gly60Val)
|
rs144435434
|
|
NM_020928.2(ZSWIM6):c.57CGG[5] (p.Gly26del)
|
rs565100893
|
|
NM_020937.4(FANCM):c.2582T>G (p.Ile861Arg)
|
rs901858017
|
|
NM_020975.6(RET):c.1468C>G (p.Gln490Glu)
|
rs1588871393
|
|
NM_020975.6(RET):c.2765C>A (p.Ser922Tyr)
|
rs377767432
|
|
NM_020975.6(RET):c.74-50G>T
|
rs766786245
|
|
NM_020975.6(RET):c.742G>A (p.Gly248Ser)
|
rs1837733775
|
|
NM_020987.5(ANK3):c.1690-15dup
|
rs34796699
|
|
NM_021008.4(DEAF1):c.54_86del (p.Val19_Ala29del)
|
rs982923800
|
|
NM_021076.4(NEFH):c.2232_2249del (p.746_751SPEKAK[1])
|
rs59890097
|
|
NM_021625.5(TRPV4):c.549G>C (p.Glu183Asp)
|
rs141908793
|
|
NM_021961.6(TEAD1):c.331-907AT[4]
|
rs10543484
|
|
NM_021969.3(NR0B2):c.157_166del (p.His53fs)
|
rs540387719
|
|
NM_022455.5(NSD1):c.1237-90del
|
rs11322143
|
|
NM_022455.5(NSD1):c.4378+15_4378+16del
|
rs2149894868
|
|
NM_022455.5(NSD1):c.4966+96dup
|
rs373383515
|
|
NM_022455.5(NSD1):c.6341C>G (p.Thr2114Arg)
|
rs914580476
|
|
NM_024408.4(NOTCH2):c.57C>G (p.Cys19Trp)
|
rs11810554
|
|
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del)
|
rs377272752
|
|
NM_024426.6(WT1):c.156G>T (p.Glu52Asp)
|
rs1565002339
|
|
NM_024426.6(WT1):c.784+6C>T
|
rs1455790542
|
|
NM_024503.5(HIVEP3):c.5000C>T (p.Ala1667Val)
|
rs2149103292
|
|
NM_024675.4(PALB2):c.2448C>G (p.Phe816Leu)
|
rs876659879
|
|
NM_024675.4(PALB2):c.2514+10A>G
|
rs1032636199
|
|
NM_024675.4(PALB2):c.3351-48del
|
rs140806991
|
|
NM_024757.5(EHMT1):c.82G>C (p.Glu28Gln)
|
rs1342402816
|
|
NM_025000.4(DCAF17):c.732+70dup
|
rs58636477
|
|
NM_025074.7(FRAS1):c.11445+68_11445+69del
|
rs3062747
|
|
NM_025243.4(SLC19A3):c.980-4del
|
rs11334205
|
|
NM_030665.4(RAI1):c.4958C>T (p.Pro1653Leu)
|
rs931068297
|
|
NM_030787.4(CFHR5):c.486dup (p.Glu163fs)
|
rs565457964
|
|
NM_030928.4(CDT1):c.248C>T (p.Pro83Leu)
|
rs139038990
|
|
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn)
|
rs41302834
|
|
NM_032545.4(CFC1):c.433G>A (p.Ala145Thr)
|
rs199715380
|
|
NM_032776.3(JMJD1C):c.7168C>G (p.Leu2390Val)
|
rs767321856
|
|
NM_032856.5(WDR73):c.926ATGGAACACGGAGCCAAG[1] (p.309DGTRSQ[1])
|
rs11267906
|
|
NM_033343.4(LHX4):c.724_726del (p.Lys242del)
|
rs771109452
|
|
NM_033380.3(COL4A5):c.2999G>T (p.Gly1000Val)
|
rs281874709
|
|
NM_052867.4(NALCN):c.3955-50CT[11]
|
rs34229756
|
|
NM_052876.4(NACC1):c.979G>C (p.Ala327Pro)
|
rs759246551
|
|
NM_058172.6(ANTXR2):c.1069G>C (p.Ala357Pro)
|
rs12647691
|
|
NM_080425.4(GNAS):c.2069-6389CGGCG[3]
|
rs143800311
|
|
NM_130797.4(DPP6):c.421T>C (p.Phe141Leu)
|
rs571883604
|
|
NM_133181.4(EPS8L3):c.409G>C (p.Glu137Gln)
|
rs1157241634
|
|
NM_138459.5(NUS1):c.541+10A>C
|
rs1051471000
|
|
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup)
|
rs387906492
|
|
NM_144599.5(NIPA1):c.24GGC[7] (p.Ala16del)
|
rs531550505
|
|
NM_145166.4(ZBTB47):c.407C>T (p.Pro136Leu)
|
rs1710670079
|
|
NM_152296.5(ATP1A3):c.1549G>C (p.Glu517Gln)
|
rs782583311
|
|
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln)
|
rs727503962
|
|
NM_153240.5(NPHP3):c.394-89AT[7]
|
rs10590809
|
|
NM_153252.5(BRWD3):c.3865-119TA[9]
|
rs3029738
|
|
NM_153460.4(IL17RC):c.622+115ATTC[5]
|
rs34198416
|
|
NM_170606.3(KMT2C):c.4507+5A>G
|
rs2129129571
|
|
NM_170606.3(KMT2C):c.8431T>C (p.Ser2811Pro)
|
rs896573950
|
|
NM_172107.4(KCNQ2):c.1118+1G>A
|
rs397507449
|
|
NM_172107.4(KCNQ2):c.1632-1G>T
|
rs118192233
|
|
NM_173630.4(RTTN):c.725_727dup (p.Gly242dup)
|
rs58913700
|
|
NM_174936.4(PCSK9):c.45GCT[10] (p.Leu21_Leu23dup)
|
rs35574083
|
|
NM_177924.5(ASAH1):c.216+46TATTT[3]
|
rs35875004
|
|
NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly)
|
rs4240659
|
|
NM_181882.3(PRX):c.4059GGA[6] (p.Glu1361del)
|
rs139624657
|
|
NM_182641.4(BPTF):c.581T>G (p.Phe194Cys)
|
rs1292339242
|
|
NM_182914.3(SYNE2):c.4768G>T (p.Val1590Phe)
|
rs1018808319
|
|
NM_182931.3(KMT2E):c.3339A>C (p.Arg1113Ser)
|
rs938243662
|
|
NM_183065.4(TMEM107):c.*622G>A
|
rs201266955
|
|
NM_183065.4(TMEM107):c.*751C>T
|
rs117595965
|
|
NM_183065.4(TMEM107):c.*760G>T
|
rs116395281
|
|
NM_183357.3(ADCY5):c.2498A>G (p.Asn833Ser)
|
rs2108270287
|
|
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del)
|
rs377639087
|
|
NM_198689.3(KRTAP10-7):c.185A>G (p.Tyr62Cys)
|
rs4818725
|
|
NM_198691.3(KRTAP10-1):c.475G>T (p.Asp159Tyr)
|
|
|
NM_198691.3(KRTAP10-1):c.477T>A (p.Asp159Glu)
|
|
|
NM_198880.3(QRICH1):c.646G>A (p.Val216Met)
|
rs76308243
|
|
NM_198994.3(TGM6):c.1967+59AG[2]
|
rs60388755
|
|
NM_206862.4(TACC2):c.3317C>G (p.Ser1106Trp)
|
rs753194129
|
|
NM_206933.4(USH2A):c.10246T>G (p.Cys3416Gly)
|
rs527236140
|
|
NM_207371.4(SKIDA1):c.2012G>T (p.Cys671Phe)
|
rs1026025706
|
|
NM_213599.3(ANO5):c.*113del
|
rs5790246
|
|
NM_213599.3(ANO5):c.-161_-156AGG[3]GGAATGAGGAGGAGGAGGAGG[1]
|
rs71034576
|
|
NM_213599.3(ANO5):c.2646C>G (p.Asn882Lys)
|
rs34969327
|
|
NM_213720.3(CHCHD10):c.312C>T (p.Tyr104=)
|
rs9153
|
|
m.1442G>A
|
rs28358573
|
|
m.15572T>C
|
rs207459996
|
|
m.8009G>A
|
rs199474826
|
|