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_001278116.2(L1CAM):c.-109+95_-109+96insGCCG
|
rs58566947
|
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_000518.5(HBB):c.315+16G>C
|
rs10768683
|
0.82893
|
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_021133.4(RNASEL):c.1385G>A (p.Arg462Gln)
|
rs486907
|
0.28062
|
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_005957.5(MTHFR):c.665C>T (p.Ala222Val)
|
rs1801133
|
0.27446
|
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_000017.4(ACADS):c.625G>A (p.Gly209Ser)
|
rs1799958
|
0.20617
|
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_000487.6(ARSA):c.1055A>G (p.Asn352Ser)
|
rs2071421
|
0.19530
|
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_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809
|
0.18094
|
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_000030.3(AGXT):c.1020A>G (p.Ile340Met)
|
rs4426527
|
0.15412
|
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_001002294.3(FMO3):c.923A>G (p.Glu308Gly)
|
rs2266780
|
0.14140
|
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_003690.5(PRKRA):c.677T>A (p.Ile226Asn)
|
rs77419724
|
0.13676
|
NM_002024.6(FMR1):c.357A>C (p.Lys119Asn)
|
rs201580891
|
0.13140
|
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_000255.4(MMUT):c.1495G>A (p.Ala499Thr)
|
rs2229385
|
0.10476
|
NM_000251.2(MSH2):c.-118T>C
|
rs2303425
|
0.10354
|
NM_004183.4(BEST1):c.219C>A (p.Ile73=)
|
rs1109748
|
0.10271
|
NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
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_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
NM_000498.3(CYP11B2):c.1157T>C (p.Val386Ala)
|
rs61757294
|
0.08654
|
NM_006206.6(PDGFRA):c.2323+1120C>T
|
rs2291591
|
0.08547
|
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_030653.4(DDX11):c.1819G>C (p.Ala607Pro)
|
rs74912343
|
0.07203
|
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_003661.4(APOL1):c.1024A>G (p.Ser342Gly)
|
rs73885319
|
0.06773
|
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_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn)
|
rs12483377
|
0.06693
|
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_000140.5(FECH):c.315-48T>C
|
rs2272783
|
0.06200
|
NM_007144.3(PCGF2):c.210-8T>C
|
rs72819704
|
0.06015
|
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys)
|
rs11258194
|
0.05969
|
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_000130.5(F5):c.3980A>G (p.His1327Arg)
|
rs1800595
|
0.05074
|
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_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile)
|
rs1801466
|
0.04126
|
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_000410.4(HFE):c.845G>A (p.Cys282Tyr)
|
rs1800562
|
0.03880
|
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr)
|
rs6336
|
0.03696
|
NM_000402.4(G6PD):c.292G>A (p.Val98Met)
|
rs1050828
|
0.03616
|
NM_002283.4(KRT85):c.233G>A (p.Arg78His)
|
rs61630004
|
0.03613
|
NM_014675.5(CROCC):c.904C>G (p.Gln302Glu)
|
rs143501240
|
0.03575
|
NM_033337.3(CAV3):c.166G>A (p.Gly56Ser)
|
rs72546667
|
0.03558
|
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_002335.4(LRP5):c.1999G>A (p.Val667Met)
|
rs4988321
|
0.03472
|
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_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys)
|
rs35520756
|
0.03206
|
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser)
|
rs61735045
|
0.03116
|
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)
|
rs17580
|
0.02950
|
NM_013339.4(ALG6):c.391T>C (p.Tyr131His)
|
rs35383149
|
0.02935
|
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg)
|
rs61750126
|
0.02895
|
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_000053.4(ATP7B):c.3620A>G (p.His1207Arg)
|
rs7334118
|
0.02828
|
NM_000067.3(CA2):c.754A>G (p.Asn252Asp)
|
rs2228063
|
0.02817
|
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)
|
rs61747728
|
0.02796
|
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val)
|
rs35947132
|
0.02791
|
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_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro)
|
rs36070315
|
0.02463
|
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_000096.4(CP):c.1652C>T (p.Thr551Ile)
|
rs61733458
|
0.02154
|
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_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser)
|
rs111784356
|
0.02010
|
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg)
|
rs11934801
|
0.01974
|
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_005105.5(RBM8A):c.-21G>A
|
rs139428292
|
0.01871
|
NM_004937.3(CTNS):c.124G>A (p.Val42Ile)
|
rs35086888
|
0.01867
|
NM_000453.3(SLC5A5):c.-54C>T
|
rs112077649
|
0.01822
|
NM_000500.9(CYP21A2):c.*13G>A
|
rs6447
|
0.01770
|
NM_000130.4(F5):c.1601G>A (p.Arg534Gln)
|
rs6025
|
0.01762
|
NM_001256789.3(CACNA1F):c.1523G>A (p.Arg508Gln)
|
rs34162630
|
0.01756
|
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_004252.5(NHERF1):c.328C>G (p.Leu110Val)
|
rs35910969
|
0.01664
|
NM_001174096.2(ZEB1):c.233A>C (p.Asn78Thr)
|
rs80194531
|
0.01629
|
NM_033409.4(SLC52A3):c.1048T>A (p.Leu350Met)
|
rs76947760
|
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_178012.5(TUBB2B):c.553G>A (p.Ala185Thr)
|
rs146544321
|
0.01565
|
NM_172351.3(CD46):c.1013C>T (p.Ala338Val)
|
rs35366573
|
0.01505
|
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_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu)
|
rs41272687
|
0.01478
|
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_000492.4(CFTR):c.*1043A>C
|
rs10234329
|
0.01452
|
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)
|
rs121908120
|
0.01450
|
NM_001021.6(RPS17):c.327+80G>A
|
rs990557809
|
0.01433
|
NM_012186.3(FOXE3):c.146G>C (p.Gly49Ala)
|
rs566961335
|
0.01396
|
NM_001029883.3(PCARE):c.1844T>A (p.Val615Asp)
|
rs140776870
|
0.01391
|
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu)
|
rs6262
|
0.01372
|
NM_000064.4(C3):c.1407G>C (p.Glu469Asp)
|
rs11569422
|
0.01362
|
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile)
|
rs1799967
|
0.01348
|
NM_001365536.1(SCN9A):c.2827A>C (p.Met943Leu)
|
rs12478318
|
0.01339
|
NM_000237.3(LPL):c.953A>G (p.Asn318Ser)
|
rs268
|
0.01327
|
NM_006950.3(SYN1):c.152C>G (p.Ala51Gly)
|
rs187134574
|
0.01317
|
NM_003000.3(SDHB):c.8C>G (p.Ala3Gly)
|
rs11203289
|
0.01309
|
NM_006883.2(SHOX):c.653G>A (p.Arg218His)
|
rs193072890
|
0.01306
|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_018392.5(ZGRF1):c.4087G>A (p.Glu1363Lys)
|
rs76187047
|
0.01292
|
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu)
|
rs7958709
|
0.01289
|
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)
|
rs28929474
|
0.01282
|
NM_000077.5(CDKN2A):c.-25C>T
|
rs144481587
|
0.01273
|
NM_033118.4(MYLK2):c.430C>G (p.Pro144Ala)
|
rs34396614
|
0.01268
|
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg)
|
rs76116949
|
0.01253
|
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_001370658.1(BTD):c.820A>G (p.Ile274Val)
|
rs35976361
|
0.01187
|
NM_000335.5(SCN5A):c.1571C>A (p.Ser524Tyr)
|
rs41313691
|
0.01184
|
NM_002693.3(POLG):c.3643+48A>G
|
rs2307454
|
0.01182
|
NM_000250.2(MPO):c.995C>T (p.Ala332Val)
|
rs28730837
|
0.01176
|
NM_000249.4(MLH1):c.1039-8T>A
|
rs193922367
|
0.01153
|
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys)
|
rs45562031
|
0.01150
|
NM_000359.3(TGM1):c.1552G>A (p.Val518Met)
|
rs35312232
|
0.01146
|
NM_000044.6(AR):c.1886-60G>A
|
rs146283342
|
0.01144
|
NM_000550.3(TYRP1):c.1557T>G (p.Tyr519Ter)
|
rs41302073
|
0.01144
|
NM_016233.2(PADI3):c.856A>G (p.Thr286Ala)
|
rs139426141
|
0.01139
|
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_004387.4(NKX2-5):c.73C>T (p.Arg25Cys)
|
rs28936670
|
0.01082
|
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_000410.4(HFE):c.193A>T (p.Ser65Cys)
|
rs1800730
|
0.01042
|
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr)
|
rs145643112
|
0.01037
|
NM_005448.2(BMP15):c.538G>A (p.Ala180Thr)
|
rs104894767
|
0.01035
|
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_000250.2(MPO):c.752T>C (p.Met251Thr)
|
rs56378716
|
0.00999
|
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu)
|
rs9378252
|
0.00995
|
NM_017739.4(POMGNT1):c.1666G>A (p.Asp556Asn)
|
rs74374973
|
0.00994
|
NM_000209.4(PDX1):c.716C>A (p.Pro239Gln)
|
rs199644078
|
0.00993
|
NM_001360.3(DHCR7):c.99-4G>A
|
rs140748737
|
0.00988
|
NM_000506.5(F2):c.*97G>A
|
rs1799963
|
0.00979
|
NM_000479.5(AMH):c.974A>G (p.Gln325Arg)
|
rs140765565
|
0.00966
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg)
|
rs41297018
|
0.00964
|
NM_000204.5(CFI):c.1534+5G>T
|
rs114013791
|
0.00951
|
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_000171.4(GLRA1):c.1108G>A (p.Gly370Ser)
|
rs116474260
|
0.00939
|
NM_201384.3(PLEC):c.887G>A (p.Arg296Gln)
|
rs138924815
|
0.00931
|
NM_021939.4(FKBP10):c.917+53G>T
|
rs141387386
|
0.00927
|
NM_022042.4(SLC26A1):c.*878G>A
|
rs147498923
|
0.00924
|
NM_000249.4(MLH1):c.1732-19T>A
|
rs77120160
|
0.00923
|
NM_213599.3(ANO5):c.616A>G (p.Thr206Ala)
|
rs78266558
|
0.00922
|
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)
|
rs33927012
|
0.00921
|
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_001710.6(CFB):c.1697A>C (p.Glu566Ala)
|
rs45484591
|
0.00913
|
NM_000245.4(MET):c.2975C>T (p.Thr992Ile)
|
rs56391007
|
0.00911
|
NM_024408.4(NOTCH2):c.272G>T (p.Arg91Leu)
|
rs143195893
|
0.00899
|
UGT1A1*6
|
rs4148323
|
0.00891
|
NM_000391.4(TPP1):c.299A>G (p.Gln100Arg)
|
rs1800746
|
0.00889
|
NM_000492.4(CFTR):c.1210-11T>G
|
rs73715573
|
0.00886
|
NM_001174089.2(SLC4A11):c.2496G>A (p.Met832Ile)
|
rs34224785
|
0.00886
|
NM_004369.4(COL6A3):c.6156+4C>T
|
rs111228504
|
0.00884
|
NM_000211.5(ITGB2):c.329-6C>T
|
rs9983887
|
0.00876
|
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_181776.3(SLC36A2):c.260G>T (p.Gly87Val)
|
rs77010315
|
0.00869
|
NM_000142.5(FGFR3):c.1345C>T (p.Pro449Ser)
|
rs61735104
|
0.00867
|
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_000535.7(PMS2):c.52A>G (p.Ile18Val)
|
rs63750123
|
0.00861
|
NM_001142633.3(PIK3R5):c.1885C>T (p.Pro629Ser)
|
rs61761068
|
0.00859
|
NM_000037.4(ANK1):c.5544+91C>T
|
rs72638959
|
0.00849
|
NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp)
|
rs5030672
|
0.00847
|
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_001379610.1(SPINK1):c.101A>G (p.Asn34Ser)
|
rs17107315
|
0.00797
|
NM_004577.4(PSPH):c.650T>C (p.Val217Ala)
|
rs73343752
|
0.00788
|
NM_002693.3(POLG):c.3561G>C (p.Arg1187=)
|
rs62640037
|
0.00787
|
NM_002900.3(RBP3):c.1037G>A (p.Arg346His)
|
rs111245635
|
0.00786
|
NM_001386298.1(CIC):c.7510T>C (p.Ser2504Pro)
|
rs745695673
|
0.00775
|
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_052865.4(MGME1):c.794C>T (p.Thr265Ile)
|
rs76599088
|
0.00768
|
NM_002485.5(NBN):c.37+5G>A
|
rs116735828
|
0.00767
|
NM_000051.4(ATM):c.544G>C (p.Val182Leu)
|
rs3218707
|
0.00757
|
NM_181332.3(NLGN4X):c.1777C>T (p.Leu593Phe)
|
rs3747333
|
0.00756
|
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_001457.4(FLNB):c.6956T>C (p.Ile2319Thr)
|
rs116826041
|
0.00739
|
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_000465.4(BARD1):c.1972C>T (p.Arg658Cys)
|
rs3738888
|
0.00736
|
NM_000481.4(AMT):c.631G>A (p.Glu211Lys)
|
rs116192290
|
0.00735
|
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg)
|
rs72648927
|
0.00729
|
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn)
|
rs115014558
|
0.00719
|
NM_000298.6(PKLR):c.1269+43T>C
|
rs8177982
|
0.00718
|
NM_021625.5(TRPV4):c.2518G>A (p.Glu840Lys)
|
rs55728855
|
0.00718
|
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_001113378.2(FANCI):c.1813C>T (p.Leu605Phe)
|
rs117125761
|
0.00708
|
NM_002693.3(POLG):c.2492A>G (p.Tyr831Cys)
|
rs41549716
|
0.00708
|
NM_016233.2(PADI3):c.1744G>A (p.Ala582Thr)
|
rs34097903
|
0.00708
|
NM_001130987.2(DYSF):c.*107T>A
|
rs11903223
|
0.00707
|
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)
|
rs34677591
|
0.00706
|
NM_022173.4(TIA1):c.953A>G (p.Gln318Arg)
|
rs115611153
|
0.00704
|
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_004541.4(NDUFA1):c.94G>C (p.Gly32Arg)
|
rs1801316
|
0.00694
|
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_001126049.2(KLLN):c.-956G>T
|
rs34149102
|
0.00683
|
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_001174096.2(ZEB1):c.2522A>C (p.Gln841Pro)
|
rs118020901
|
0.00680
|
NM_003002.4(SDHD):c.149A>G (p.His50Arg)
|
rs11214077
|
0.00679
|
NM_030632.3(ASXL3):c.6200T>G (p.Leu2067Arg)
|
rs144534810
|
0.00679
|
NM_000098.3(CPT2):c.302C>T (p.Ala101Val)
|
rs75939866
|
0.00675
|
NM_001142800.2(EYS):c.8422G>A (p.Ala2808Thr)
|
rs111991705
|
0.00667
|
NM_138715.3(MSR1):c.520G>T (p.Asp174Tyr)
|
rs72552387
|
0.00667
|
NM_001395656.1(ROBO2):c.1556A>T (p.Asn519Ile)
|
rs80051448
|
0.00662
|
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg)
|
rs12735723
|
0.00660
|
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe)
|
rs140029076
|
0.00658
|
NM_153240.5(NPHP3):c.3941G>C (p.Ser1314Thr)
|
rs75316802
|
0.00658
|
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)
|
rs62642564
|
0.00654
|
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_001190274.2(FBXO11):c.*1173A>T
|
rs2020906
|
0.00645
|
NM_004415.4(DSP):c.*9T>A
|
rs11558732
|
0.00645
|
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu)
|
rs80340744
|
0.00645
|
NM_017799.4(TMEM260):c.1411G>A (p.Glu471Lys)
|
rs113277637
|
0.00639
|
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_031220.4(PITPNM3):c.541G>A (p.Val181Ile)
|
rs61755430
|
0.00628
|
NM_199242.3(UNC13D):c.753+3G>A
|
rs116229331
|
0.00627
|
NM_005529.7(HSPG2):c.3056C>T (p.Pro1019Leu)
|
rs62642528
|
0.00626
|
NM_015937.6(PIGT):c.367G>T (p.Val123Leu)
|
rs141420243
|
0.00626
|
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln)
|
rs45575636
|
0.00625
|
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_000110.4(DPYD):c.557A>G (p.Tyr186Cys)
|
rs115232898
|
0.00622
|
NM_000061.3(BTK):c.141+11C>T
|
rs138411530
|
0.00620
|
NM_016233.2(PADI3):c.881C>T (p.Ala294Val)
|
rs144080386
|
0.00620
|
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu)
|
rs114819130
|
0.00617
|
NM_015634.4(KIFBP):c.518T>C (p.Met173Thr)
|
rs62625033
|
0.00610
|
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr)
|
rs28897727
|
0.00609
|
NM_000368.5(TSC1):c.2626-3C>T
|
rs1060503192
|
0.00608
|
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val)
|
rs11545035
|
0.00605
|
NM_006231.4(POLE):c.776G>A (p.Arg259His)
|
rs61732929
|
0.00604
|
NM_017950.4(CCDC40):c.2832+466_2832+467del
|
rs570440845
|
0.00603
|
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_004646.4(NPHS1):c.563A>T (p.Asn188Ile)
|
rs145125791
|
0.00598
|
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter)
|
rs11571833
|
0.00597
|
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg)
|
rs28940884
|
0.00596
|
NM_000518.5(HBB):c.93-23T>C
|
rs111851677
|
0.00593
|
NM_001605.3(AARS1):c.1685C>T (p.Thr562Ile)
|
rs148355156
|
0.00591
|
NM_000179.3(MSH6):c.3557-40T>A
|
rs189436849
|
0.00587
|
NM_000318.3(PEX2):c.748T>C (p.Trp250Arg)
|
rs142645936
|
0.00585
|
NM_002016.2(FLG):c.5717C>A (p.Ser1906Ter)
|
rs141784184
|
0.00584
|
NM_000038.6(APC):c.1959G>A (p.Arg653=)
|
rs72541809
|
0.00583
|
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_002256.4(KISS1):c.268C>G (p.His90Asp)
|
rs201073751
|
0.00578
|
NM_015102.5(NPHP4):c.3674C>T (p.Thr1225Met)
|
rs144624477
|
0.00576
|
NM_024753.5(TTC21B):c.2322+3A>G
|
rs79037278
|
0.00575
|
NM_000718.4(CACNA1B):c.2093-4C>A
|
rs76062311
|
0.00574
|
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys)
|
rs11540832
|
0.00574
|
NM_001065.4(TNFRSF1A):c.224C>T (p.Pro75Leu)
|
rs4149637
|
0.00574
|
NM_003477.3(PDHX):c.976G>C (p.Val326Leu)
|
rs35560997
|
0.00574
|
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg)
|
rs34911792
|
0.00573
|
NM_006662.3(SRCAP):c.3302C>A (p.Thr1101Lys)
|
rs149248373
|
0.00571
|
NM_018196.4(TMLHE):c.1107G>T (p.Glu369Asp)
|
rs782001959
|
0.00571
|
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_000321.3(RB1):c.2521-11G>A
|
rs4151624
|
0.00570
|
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys)
|
rs35462421
|
0.00570
|
NM_182961.4(SYNE1):c.24952C>T (p.Leu8318Phe)
|
rs141716975
|
0.00570
|
NM_004341.5(CAD):c.4930T>C (p.Phe1644Leu)
|
rs144692793
|
0.00569
|
NM_139281.3(WDR36):c.1642A>G (p.Ile548Val)
|
rs34661294
|
0.00569
|
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val)
|
rs2020908
|
0.00565
|
NM_153252.5(BRWD3):c.2325+5G>A
|
rs186391561
|
0.00565
|
NM_000132.4(F8):c.1508G>A (p.Arg503His)
|
rs35383156
|
0.00563
|
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter)
|
rs55960271
|
0.00561
|
NM_000138.5(FBN1):c.5343G>A (p.Val1781=)
|
rs140649
|
0.00561
|
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_015425.6(POLR1A):c.473G>C (p.Arg158Pro)
|
rs146078741
|
0.00557
|
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_000038.6(APC):c.-19+45G>A
|
rs370011472
|
0.00550
|
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys)
|
rs5738
|
0.00548
|
NM_024589.3(ROGDI):c.713G>A (p.Arg238His)
|
rs138409264
|
0.00548
|
FIBRINOGEN PARIS 1
|
rs2066862
|
0.00546
|
NM_002273.4(KRT8):c.184G>T (p.Gly62Cys)
|
rs11554495
|
0.00545
|
NM_002055.5(GFAP):c.140C>T (p.Pro47Leu)
|
rs57474185
|
0.00543
|
NM_015330.6(SPECC1L):c.1460G>A (p.Arg487His)
|
rs55723436
|
0.00543
|
NM_000321.3(RB1):c.2490-45A>G
|
rs4151610
|
0.00540
|
NM_001308093.3(GATA4):c.912+25G>A
|
rs147860174
|
0.00539
|
NM_014805.3(EPM2AIP1):c.-202G>C
|
rs35032294
|
0.00539
|
NM_024753.5(TTC21B):c.3004C>G (p.Leu1002Val)
|
rs146496725
|
0.00537
|
NM_000374.5(UROD):c.952G>A (p.Gly318Arg)
|
rs116233118
|
0.00531
|
NM_003041.4(SLC5A2):c.1961A>G (p.Asn654Ser)
|
rs61742739
|
0.00531
|
NM_000500.9(CYP21A2):c.1360C>T (p.Pro454Ser)
|
rs6445
|
0.00530
|
NM_001174150.2(ARL13B):c.1186C>G (p.Pro396Ala)
|
rs11554412
|
0.00529
|
NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser)
|
rs6413464
|
0.00527
|
NM_000374.5(UROD):c.758T>A (p.Leu253Gln)
|
rs36033115
|
0.00527
|
NM_000554.6(CRX):c.724G>A (p.Val242Met)
|
rs61748459
|
0.00521
|
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser)
|
rs147099630
|
0.00521
|
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_005105.5(RBM8A):c.67+32G>C
|
rs201779890
|
0.00518
|
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)
|
rs72553883
|
0.00518
|
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val)
|
rs145847315
|
0.00517
|
NM_000666.3(ACY1):c.1156C>T (p.Arg386Cys)
|
rs2229152
|
0.00516
|
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)
|
rs61752783
|
0.00516
|
NM_000090.4(COL3A1):c.1804C>A (p.Pro602Thr)
|
rs35795890
|
0.00513
|
NM_000110.4(DPYD):c.775A>G (p.Lys259Glu)
|
rs45589337
|
0.00513
|
NM_058216.3(RAD51C):c.572-17G>T
|
rs193023469
|
0.00513
|
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)
|
rs1800361
|
0.00511
|
NM_001348800.3(ZBTB20):c.1318G>A (p.Glu440Lys)
|
rs138924453
|
0.00511
|
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser)
|
rs74315394
|
0.00508
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_006883.2(SHOX):c.*38C>T
|
rs188372244
|
0.00506
|
NM_016233.2(PADI3):c.335T>A (p.Leu112His)
|
rs142129409
|
0.00502
|
NM_000371.4(TTR):c.424G>A (p.Val142Ile)
|
rs76992529
|
0.00501
|
NM_000208.4(INSR):c.3034G>A (p.Val1012Met)
|
rs1799816
|
0.00500
|
NM_000277.3(PAH):c.820A>G (p.Lys274Glu)
|
rs142934616
|
0.00496
|
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser)
|
rs141268327
|
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_001009944.3(PKD1):c.6545A>G (p.Gln2182Arg)
|
rs147685291
|
0.00492
|
NM_000350.3(ABCA4):c.1927G>A (p.Val643Met)
|
rs61749417
|
0.00491
|
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val)
|
rs121908954
|
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_004370.6(COL12A1):c.9083G>A (p.Arg3028His)
|
rs41266761
|
0.00484
|
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_001377299.1(NDUFS2):c.968G>A (p.Arg323Gln)
|
rs35086265
|
0.00477
|
NM_000251.3(MSH2):c.1666T>C (p.Leu556=)
|
rs61756466
|
0.00471
|
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_000141.5(FGFR2):c.1288-35A>G
|
rs41295587
|
0.00467
|
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu)
|
rs145191932
|
0.00466
|
NM_001199198.3(TBC1D23):c.92G>C (p.Cys31Ser)
|
rs62636640
|
0.00466
|
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_002472.3(MYH8):c.5350C>G (p.Arg1784Gly)
|
rs141215006
|
0.00462
|
NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp)
|
rs113964173
|
0.00462
|
NM_003105.6(SORL1):c.2840C>T (p.Thr947Met)
|
rs143571823
|
0.00461
|
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser)
|
rs145522204
|
0.00460
|
NM_022552.5(DNMT3A):c.89A>C (p.Glu30Ala)
|
rs143730975
|
0.00459
|
NM_017534.6(MYH2):c.2908G>A (p.Val970Ile)
|
rs143872329
|
0.00456
|
NM_001430.5(EPAS1):c.1121T>A (p.Phe374Tyr)
|
rs150797491
|
0.00455
|
NM_006567.5(FARS2):c.737C>T (p.Thr246Met)
|
rs116567033
|
0.00455
|
NM_004562.3(PRKN):c.458C>G (p.Pro153Arg)
|
rs55654276
|
0.00452
|
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_183357.3(ADCY5):c.1902G>C (p.Glu634Asp)
|
rs61734561
|
0.00451
|
NM_024675.4(PALB2):c.2794G>A (p.Val932Met)
|
rs45624036
|
0.00449
|
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)
|
rs2020912
|
0.00448
|
NM_001109878.2(TBX22):c.176-13C>A
|
rs55760411
|
0.00447
|
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val)
|
rs113806080
|
0.00446
|
NM_033100.4(CDHR1):c.783G>A (p.Pro261=)
|
rs147346345
|
0.00446
|
NM_173354.5(SIK1):c.1215G>A (p.Met405Ile)
|
rs34987632
|
0.00446
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
NM_001317778.2(SFTPC):c.482G>A (p.Arg161Gln)
|
rs34957318
|
0.00444
|
NM_030973.4(MED25):c.1004C>T (p.Ala335Val)
|
rs145770066
|
0.00443
|
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)
|
rs1801673
|
0.00441
|
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu)
|
rs143759519
|
0.00440
|
NM_013337.4(TIMM22):c.97G>C (p.Val33Leu)
|
rs149879547
|
0.00440
|
NM_000059.4(BRCA2):c.7008-62A>G
|
rs76584943
|
0.00439
|
NM_015330.6(SPECC1L):c.293C>T (p.Ser98Phe)
|
rs35783914
|
0.00439
|
NM_000057.4(BLM):c.4076+4T>G
|
rs183176301
|
0.00436
|
NM_002863.5(PYGL):c.1900G>C (p.Asp634His)
|
rs35026927
|
0.00435
|
NM_000179.3(MSH6):c.457+13A>G
|
rs1800933
|
0.00434
|
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr)
|
rs17879961
|
0.00434
|
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)
|
rs2227922
|
0.00431
|
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg)
|
rs74085882
|
0.00430
|
NM_007294.4(BRCA1):c.*750A>G
|
rs138782023
|
0.00430
|
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_014026.6(DCPS):c.677G>A (p.Gly226Asp)
|
rs35836343
|
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_006939.4(SOS2):c.572C>G (p.Pro191Arg)
|
rs72681869
|
0.00421
|
NM_000245.4(MET):c.504G>T (p.Glu168Asp)
|
rs55985569
|
0.00420
|
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_017617.5(NOTCH1):c.1042G>C (p.Ala348Pro)
|
rs201236538
|
0.00418
|
NM_000254.3(MTR):c.155G>A (p.Arg52Gln)
|
rs12749581
|
0.00417
|
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_000322.5(PRPH2):c.133C>T (p.Leu45Phe)
|
rs61755770
|
0.00414
|
NM_000515.5(GH1):c.152T>A (p.Phe51Tyr)
|
rs61735357
|
0.00414
|
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)
|
rs33930165
|
0.00414
|
NM_001142864.4(PIEZO1):c.2344G>A (p.Gly782Ser)
|
rs200970763
|
0.00414
|
NM_000038.6(APC):c.933+30A>G
|
rs145211300
|
0.00412
|
NM_006982.3(ALX1):c.191G>T (p.Arg64Leu)
|
rs115596276
|
0.00412
|
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_001429.4(EP300):c.2773C>A (p.Pro925Thr)
|
rs148884710
|
0.00410
|
NM_003036.4(SKI):c.1163C>T (p.Ala388Val)
|
rs75280988
|
0.00410
|
NM_024989.4(PGAP1):c.1753C>G (p.Gln585Glu)
|
rs62185645
|
0.00410
|
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His)
|
rs201012766
|
0.00405
|
NM_025114.4(CEP290):c.1079G>A (p.Arg360Gln)
|
rs188164241
|
0.00405
|
NM_001330360.2(POLA1):c.3622G>C (p.Asp1208His)
|
rs41548013
|
0.00404
|
NM_014336.5(AIPL1):c.401A>T (p.Tyr134Phe)
|
rs16955851
|
0.00404
|
NM_017617.5(NOTCH1):c.4823G>A (p.Arg1608His)
|
rs76371972
|
0.00404
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
NM_006662.3(SRCAP):c.5705A>G (p.Glu1902Gly)
|
rs117480926
|
0.00402
|
NM_001478.5(B4GALNT1):c.*2667C>T
|
rs113207856
|
0.00400
|
NM_000022.4(ADA):c.425G>A (p.Arg142Gln)
|
rs61732239
|
0.00399
|
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu)
|
rs35001569
|
0.00399
|
NM_001715.3(BLK):c.*338T>G
|
rs1042695
|
0.00399
|
NM_006432.5(NPC2):c.441+1G>A
|
rs140130028
|
0.00399
|
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu)
|
rs112306990
|
0.00398
|
NM_001106.4(ACVR2B):c.119G>A (p.Arg40His)
|
rs121434437
|
0.00398
|
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met)
|
rs146882581
|
0.00396
|
NM_015268.4(DNAJC13):c.3872A>G (p.Glu1291Gly)
|
rs61748101
|
0.00396
|
NM_152564.5(VPS13B):c.8903A>G (p.Asn2968Ser)
|
rs28940272
|
0.00396
|
NM_030787.4(CFHR5):c.1135G>C (p.Val379Leu)
|
rs111327589
|
0.00395
|
NM_000424.4(KRT5):c.1636C>A (p.Leu546Ile)
|
rs114734812
|
0.00394
|
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_000130.5(F5):c.3845A>G (p.His1282Arg)
|
rs143333036
|
0.00389
|
NM_000161.3(GCH1):c.68C>T (p.Pro23Leu)
|
rs41298432
|
0.00389
|
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr)
|
rs61730509
|
0.00389
|
NM_001379610.1(SPINK1):c.163C>T (p.Pro55Ser)
|
rs111966833
|
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_007272.3(CTRC):c.760C>T (p.Arg254Trp)
|
rs121909293
|
0.00386
|
NM_000350.3(ABCA4):c.2546T>C (p.Val849Ala)
|
rs61749435
|
0.00385
|
NM_005560.6(LAMA5):c.7318G>A (p.Val2440Ile)
|
rs150724688
|
0.00385
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_001098.3(ACO2):c.220C>G (p.Leu74Val)
|
rs141772938
|
0.00383
|
NM_006218.4(PIK3CA):c.-138C>T
|
rs149946088
|
0.00383
|
NM_181486.4(TBX5):c.331G>T (p.Asp111Tyr)
|
rs77357563
|
0.00382
|
NM_001429.4(EP300):c.2091T>G (p.Ser697Arg)
|
rs61756764
|
0.00379
|
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_000552.5(VWF):c.2561G>A (p.Arg854Gln)
|
rs41276738
|
0.00377
|
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_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_020117.11(LARS1):c.245A>G (p.Lys82Arg)
|
rs112954500
|
0.00374
|
NM_002529.4(NTRK1):c.16C>T (p.Arg6Trp)
|
rs201472270
|
0.00373
|
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg)
|
rs148999583
|
0.00372
|
NM_000190.4(HMBS):c.-28A>C
|
rs201349602
|
0.00371
|
NM_000397.4(CYBB):c.1090G>C (p.Gly364Arg)
|
rs141756032
|
0.00371
|
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe)
|
rs45517932
|
0.00371
|
NM_001244008.2(KIF1A):c.3259C>T (p.Pro1087Ser)
|
rs143037290
|
0.00369
|
NM_022168.4(IFIH1):c.1879G>T (p.Glu627Ter)
|
rs35744605
|
0.00367
|
NM_001128178.3(NPHP1):c.14G>T (p.Arg5Leu)
|
rs190983114
|
0.00366
|
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg)
|
rs2228980
|
0.00365
|
NM_004260.4(RECQL4):c.1704+9C>T
|
rs35876881
|
0.00365
|
NM_130797.4(DPP6):c.627+21101A>G
|
rs117574002
|
0.00365
|
NM_001256849.1(POLD1):c.-51G>A
|
rs576035899
|
0.00364
|
NM_002693.3(POLG):c.803G>C (p.Gly268Ala)
|
rs61752784
|
0.00364
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
NM_002892.4(ARID4A):c.3211+1G>A
|
rs62621193
|
0.00363
|
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)
|
rs4988345
|
0.00363
|
NM_172002.5(HSCB):c.13A>G (p.Arg5Gly)
|
rs200681712
|
0.00363
|
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg)
|
rs1800368
|
0.00361
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
NM_015836.4(WARS2):c.37T>G (p.Trp13Gly)
|
rs139548132
|
0.00360
|
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu)
|
rs10482810
|
0.00359
|
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_000038.6(APC):c.7862C>G (p.Ser2621Cys)
|
rs72541816
|
0.00358
|
NM_000384.3(APOB):c.3383G>A (p.Arg1128His)
|
rs12713843
|
0.00356
|
NM_001199753.2(CPT1C):c.2077C>A (p.Leu693Met)
|
rs79488403
|
0.00356
|
NM_001453.3(FOXC1):c.*734A>T
|
rs35717904
|
0.00356
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_021912.5(GABRB3):c.31C>T (p.Pro11Ser)
|
rs25409
|
0.00354
|
NM_002907.4(RECQL):c.1483G>C (p.Asp495His)
|
rs6499
|
0.00353
|
NM_000391.4(TPP1):c.229+181A>C
|
rs189816289
|
0.00351
|
NM_001032386.2(SUOX):c.629C>T (p.Pro210Leu)
|
rs141735896
|
0.00351
|
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)
|
rs121918166
|
0.00350
|
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp)
|
rs115545701
|
0.00350
|
NM_000132.4(F8):c.2114-100A>G
|
rs36044968
|
0.00349
|
NM_000447.3(PSEN2):c.211C>T (p.Arg71Trp)
|
rs140501902
|
0.00349
|
NM_001734.5(C1S):c.943G>A (p.Asp315Asn)
|
rs117907409
|
0.00349
|
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr)
|
rs61758784
|
0.00349
|
NM_182925.5(FLT4):c.1921C>T (p.Pro641Ser)
|
rs55667289
|
0.00349
|
NM_001851.6(COL9A1):c.1349A>G (p.Glu450Gly)
|
rs77706858
|
0.00348
|
NM_025152.3(NUBPL):c.815-27T>C
|
rs118161496
|
0.00348
|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
NM_002206.3(ITGA7):c.2644G>A (p.Glu882Lys)
|
rs144983062
|
0.00347
|
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)
|
rs28383481
|
0.00347
|
NM_016239.4(MYO15A):c.3026C>A (p.Pro1009His)
|
rs117612144
|
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_000142.5(FGFR3):c.1150T>C (p.Phe384Leu)
|
rs17881656
|
0.00342
|
NM_015058.2(VWA8):c.2003G>A (p.Arg668Gln)
|
rs138075452
|
0.00342
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
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_000492.4(CFTR):c.3808G>A (p.Asp1270Asn)
|
rs11971167
|
0.00338
|
NM_005472.5(KCNE3):c.248G>A (p.Arg83His)
|
rs17215437
|
0.00338
|
NM_015311.3(OBSL1):c.4732C>T (p.Gln1578Ter)
|
rs116131367
|
0.00337
|
NM_020754.4(ARHGAP31):c.820C>T (p.Pro274Ser)
|
rs139600783
|
0.00337
|
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)
|
rs121909046
|
0.00335
|
NM_001009944.3(PKD1):c.12826C>T (p.Arg4276Trp)
|
rs114251396
|
0.00335
|
NM_023067.4(FOXL2):c.*619C>A
|
rs180829214
|
0.00335
|
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His)
|
rs34819316
|
0.00334
|
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys)
|
rs116908219
|
0.00333
|
NM_004070.4(CLCNKA):c.935C>T (p.Thr312Ile)
|
rs138110172
|
0.00332
|
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_000065.5(C6):c.1879del (p.Asp627fs)
|
rs61469168
|
0.00328
|
NM_014014.5(SNRNP200):c.4165G>A (p.Val1389Ile)
|
rs143898031
|
0.00328
|
NM_000245.4(MET):c.2908C>T (p.Arg970Cys)
|
rs34589476
|
0.00327
|
NM_004281.4(BAG3):c.1138C>T (p.Pro380Ser)
|
rs144692954
|
0.00327
|
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val)
|
rs41561818
|
0.00325
|
NM_000038.6(APC):c.4420G>A (p.Ala1474Thr)
|
rs139387758
|
0.00324
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg)
|
rs35488756
|
0.00320
|
NM_213599.3(ANO5):c.680G>C (p.Gly227Ala)
|
rs140903276
|
0.00320
|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp)
|
rs41511151
|
0.00318
|
NM_006514.4(SCN10A):c.5657C>T (p.Ala1886Val)
|
rs142653846
|
0.00318
|
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu)
|
rs71534278
|
0.00318
|
NM_001348800.3(ZBTB20):c.1164C>G (p.Asp388Glu)
|
rs144663365
|
0.00317
|
NM_033337.3(CAV3):c.233C>T (p.Thr78Met)
|
rs72546668
|
0.00317
|
NM_005560.6(LAMA5):c.4405T>G (p.Ser1469Ala)
|
rs144009130
|
0.00316
|
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_000355.4(TCN2):c.428-31G>A
|
rs188667136
|
0.00314
|
NM_001013836.2(MAD1L1):c.175C>T (p.Arg59Cys)
|
rs121908982
|
0.00314
|
NM_000251.3(MSH2):c.339G>A (p.Lys113=)
|
rs35898375
|
0.00313
|
NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met)
|
rs143543800
|
0.00313
|
NM_001399.5(EDA):c.206G>T (p.Arg69Leu)
|
rs132630309
|
0.00312
|
NM_006565.4(CTCF):c.1927C>T (p.Pro643Ser)
|
rs145727304
|
0.00312
|
NM_002470.4(MYH3):c.4910C>T (p.Ala1637Val)
|
rs34165480
|
0.00311
|
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr)
|
rs35187787
|
0.00311
|
NM_014588.6(VSX1):c.731A>G (p.His244Arg)
|
rs148957473
|
0.00310
|
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_006493.4(CLN5):c.-87C>T
|
rs200353554
|
0.00309
|
NM_018706.7(DHTKD1):c.209C>G (p.Ala70Gly)
|
rs34644609
|
0.00309
|
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr)
|
rs28935490
|
0.00308
|
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu)
|
rs41292677
|
0.00308
|
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys)
|
rs56268439
|
0.00308
|
NM_001182.4(ALDH7A1):c.-80T>G
|
rs563928852
|
0.00308
|
NM_006218.4(PIK3CA):c.1146-30G>A
|
rs8192676
|
0.00308
|
NM_000208.4(INSR):c.2971C>A (p.Leu991Ile)
|
rs150114699
|
0.00307
|
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile)
|
rs187043152
|
0.00306
|
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_032043.3(BRIP1):c.577G>A (p.Val193Ile)
|
rs4988346
|
0.00305
|
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)
|
rs149989682
|
0.00304
|
NM_015909.4(NBAS):c.4913G>A (p.Arg1638His)
|
rs146449593
|
0.00303
|
NM_001378778.1(MPDZ):c.2344G>A (p.Gly782Arg)
|
rs192227753
|
0.00302
|
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_001048174.2(MUTYH):c.1103-27C>T
|
rs3219490
|
0.00300
|
NM_020361.5(CPA6):c.809C>T (p.Ala270Val)
|
rs114402678
|
0.00300
|
NM_000236.3(LIPC):c.1214C>T (p.Thr405Met)
|
rs113298164
|
0.00299
|
NM_001063.4(TF):c.2012G>A (p.Gly671Glu)
|
rs121918677
|
0.00299
|
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val)
|
rs55907433
|
0.00297
|
NM_003238.6(TGFB2):c.272G>A (p.Arg91His)
|
rs10482721
|
0.00297
|
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=)
|
rs28897724
|
0.00295
|
NM_000128.4(F11):c.1304+12G>A
|
rs116667976
|
0.00295
|
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys)
|
rs104894825
|
0.00295
|
NM_000492.4(CFTR):c.4242+13A>G
|
rs76179227
|
0.00295
|
NM_001142800.2(EYS):c.2500G>A (p.Val834Ile)
|
rs112464110
|
0.00293
|
NM_139281.3(WDR36):c.-70C>G
|
rs35629723
|
0.00293
|
NM_213599.3(ANO5):c.259G>A (p.Val87Ile)
|
rs34994927
|
0.00293
|
NM_017780.4(CHD7):c.856A>G (p.Arg286Gly)
|
rs61995713
|
0.00290
|
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_024675.4(PALB2):c.2590C>T (p.Pro864Ser)
|
rs45568339
|
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_006883.2(SHOX):c.676T>C (p.Ter226Arg)
|
rs778160013
|
0.00286
|
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met)
|
rs61754061
|
0.00285
|
NM_000342.4(SLC4A1):c.2561C>T (p.Pro854Leu)
|
rs2285644
|
0.00284
|
NM_005215.4(DCC):c.2105A>G (p.Asn702Ser)
|
rs35691189
|
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_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)
|
rs60986317
|
0.00282
|
NM_000301.5(PLG):c.112A>G (p.Lys38Glu)
|
rs73015965
|
0.00282
|
NM_000540.3(RYR1):c.4178A>G (p.Lys1393Arg)
|
rs137933390
|
0.00282
|
NM_020751.3(COG6):c.358A>G (p.Ser120Gly)
|
rs139313781
|
0.00280
|
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser)
|
rs147551003
|
0.00280
|
NM_000057.4(BLM):c.1088-40T>C
|
rs184128669
|
0.00278
|
NM_001365536.1(SCN9A):c.2248A>G (p.Ile750Val)
|
rs182650126
|
0.00278
|
NM_000059.4(BRCA2):c.68-7T>A
|
rs81002830
|
0.00277
|
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg)
|
rs78488552
|
0.00276
|
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)
|
rs1800365
|
0.00275
|
NM_006218.4(PIK3CA):c.2016-12C>T
|
rs147286696
|
0.00275
|
NM_182925.5(FLT4):c.2860C>T (p.Pro954Ser)
|
rs34255532
|
0.00275
|
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys)
|
rs146458902
|
0.00274
|
NM_000203.5(IDUA):c.246C>G (p.His82Gln)
|
rs148775298
|
0.00274
|
NM_000969.5(RPL5):c.3+3G>C
|
rs200628272
|
0.00274
|
NM_152416.4(NDUFAF6):c.838G>A (p.Val280Ile)
|
rs61743028
|
0.00274
|
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_006363.6(SEC23B):c.1512T>C (p.Asn504=)
|
rs138198461
|
0.00271
|
NM_032043.3(BRIP1):c.2097+7G>A
|
rs4988352
|
0.00271
|
NM_000298.6(PKLR):c.1456C>T (p.Arg486Trp)
|
rs116100695
|
0.00270
|
NM_007194.4(CHEK2):c.592+50A>T
|
rs17881298
|
0.00270
|
NM_032782.5(HAVCR2):c.291A>G (p.Ile97Met)
|
rs35960726
|
0.00270
|
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
|
rs1800553
|
0.00269
|
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=)
|
rs139180845
|
0.00269
|
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys)
|
rs1799954
|
0.00268
|
NM_002024.6(FMR1):c.*746T>C
|
rs183130936
|
0.00268
|
NM_012295.4(CABIN1):c.5821G>C (p.Val1941Leu)
|
rs142219142
|
0.00267
|
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu)
|
rs192129249
|
0.00267
|
NM_030962.4(SBF2):c.2323G>A (p.Gly775Ser)
|
rs141330687
|
0.00267
|
NM_002485.5(NBN):c.381T>C (p.Ala127=)
|
rs61754795
|
0.00266
|
NM_198578.4(LRRK2):c.1000G>A (p.Glu334Lys)
|
rs78501232
|
0.00266
|
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg)
|
rs641252
|
0.00265
|
NM_015102.5(NPHP4):c.1622C>T (p.Pro541Leu)
|
rs145255635
|
0.00265
|
NM_000222.3(KIT):c.2597-51T>C
|
rs368272654
|
0.00263
|
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys)
|
rs6161
|
0.00262
|
NM_001126049.2(KLLN):c.-898G>A
|
rs538728843
|
0.00262
|
NM_004360.5(CDH1):c.1680G>C (p.Thr560=)
|
rs35741240
|
0.00261
|
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His)
|
rs35029074
|
0.00260
|
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys)
|
rs121912698
|
0.00260
|
NM_020435.4(GJC2):c.445G>A (p.Gly149Ser)
|
rs577325764
|
0.00260
|
NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val)
|
rs114435947
|
0.00259
|
NM_006514.4(SCN10A):c.3803G>A (p.Arg1268Gln)
|
rs138832868
|
0.00259
|
NM_022124.6(CDH23):c.3293A>G (p.Asn1098Ser)
|
rs41281310
|
0.00258
|
NM_000091.5(COL4A3):c.4421T>C (p.Leu1474Pro)
|
rs200302125
|
0.00257
|
NM_004656.4(BAP1):c.1250+42G>A
|
rs150454901
|
0.00257
|
NM_001243177.4(ALDOA):c.1201G>A (p.Gly401Ser)
|
rs138824667
|
0.00256
|
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)
|
rs117687681
|
0.00255
|
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_006080.3(SEMA3A):c.458A>G (p.Asn153Ser)
|
rs139295139
|
0.00254
|
NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys)
|
rs34625968
|
0.00253
|
NM_001042517.2(DIAPH3):c.2149T>C (p.Ser717Pro)
|
rs191267920
|
0.00253
|
NM_005236.3(ERCC4):c.2579C>A (p.Ala860Asp)
|
rs4986933
|
0.00253
|
NM_006502.3(POLH):c.626G>T (p.Gly209Val)
|
rs2307456
|
0.00253
|
NM_201631.4(TGM5):c.337G>T (p.Gly113Cys)
|
rs112292549
|
0.00252
|
NM_007315.4(STAT1):c.796G>A (p.Val266Ile)
|
rs41473544
|
0.00251
|
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser)
|
rs143638171
|
0.00250
|
NM_000088.4(COL1A1):c.1984-5C>A
|
rs66592376
|
0.00249
|
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_000939.4(POMC):c.583G>A (p.Ala195Thr)
|
rs141309351
|
0.00247
|
NM_004473.4(FOXE1):c.743C>G (p.Ala248Gly)
|
rs538912281
|
0.00247
|
NM_002016.2(FLG):c.9947C>G (p.Ser3316Ter)
|
rs149484917
|
0.00246
|
NM_000051.4(ATM):c.2921+19dup
|
rs56112367
|
0.00245
|
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile)
|
rs28385141
|
0.00245
|
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn)
|
rs34719006
|
0.00245
|
NM_004168.4(SDHA):c.1523C>T (p.Thr508Ile)
|
rs151266052
|
0.00245
|
NM_000204.5(CFI):c.1322A>G (p.Lys441Arg)
|
rs41278047
|
0.00243
|
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter)
|
rs115746363
|
0.00243
|
NM_003072.5(SMARCA4):c.2275-3C>A
|
rs117611401
|
0.00243
|
NM_000245.4(MET):c.2365-21G>C
|
rs140853140
|
0.00242
|
NM_006218.4(PIK3CA):c.2016-29A>T
|
rs374926790
|
0.00242
|
NM_005956.4(MTHFD1):c.878G>A (p.Arg293His)
|
rs34181110
|
0.00241
|
NM_006231.4(POLE):c.51C>G (p.Gly17=)
|
rs780436496
|
0.00240
|
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile)
|
rs1800744
|
0.00240
|
NM_018706.7(DHTKD1):c.1832A>G (p.Gln611Arg)
|
rs147938299
|
0.00240
|
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile)
|
rs28897749
|
0.00239
|
NM_000751.3(CHRND):c.862C>G (p.Gln288Glu)
|
rs41265127
|
0.00239
|
NM_001379110.1(SLC9A6):c.1460+4A>G
|
rs180727016
|
0.00239
|
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser)
|
rs143777403
|
0.00238
|
NM_000129.4(F13A1):c.1777G>A (p.Gly593Ser)
|
rs138754417
|
0.00237
|
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)
|
rs1800386
|
0.00237
|
NM_213720.3(CHCHD10):c.100C>T (p.Pro34Ser)
|
rs551521196
|
0.00237
|
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro)
|
rs41281202
|
0.00236
|
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu)
|
rs139525250
|
0.00236
|
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys)
|
rs45454496
|
0.00235
|
NM_000170.3(GLDC):c.1229G>A (p.Arg410Lys)
|
rs144090917
|
0.00234
|
NM_000057.4(BLM):c.4077-10C>T
|
rs145310008
|
0.00233
|
NM_015107.3(PHF8):c.2720G>A (p.Arg907His)
|
rs142630105
|
0.00233
|
NM_020822.3(KCNT1):c.2543A>G (p.Glu848Gly)
|
rs149804567
|
0.00233
|
NM_139027.6(ADAMTS13):c.1423C>T (p.Pro475Ser)
|
rs11575933
|
0.00232
|
NM_000554.6(CRX):c.196G>A (p.Val66Ile)
|
rs61748438
|
0.00231
|
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala)
|
rs112592855
|
0.00231
|
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)
|
rs139235751
|
0.00230
|
NM_000465.4(BARD1):c.1977A>G (p.Arg659=)
|
rs147215925
|
0.00230
|
NM_000514.4(GDNF):c.448G>A (p.Asp150Asn)
|
rs76466003
|
0.00230
|
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)
|
rs147313927
|
0.00229
|
NM_000552.5(VWF):c.4315G>A (p.Val1439Met)
|
rs150077670
|
0.00229
|
NM_000122.2(ERCC3):c.2111C>T (p.Ser704Leu)
|
rs4150521
|
0.00227
|
NM_001256789.3(CACNA1F):c.1870G>A (p.Val624Ile)
|
rs141010716
|
0.00227
|
NM_022454.4(SOX17):c.775T>A (p.Tyr259Asn)
|
rs267607083
|
0.00226
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
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_001017989.3(OPA3):c.184G>A (p.Gly62Ser)
|
rs140959406
|
0.00223
|
NM_001142800.2(EYS):c.3329C>G (p.Thr1110Ser)
|
rs143327210
|
0.00223
|
NM_000377.3(WAS):c.391G>A (p.Glu131Lys)
|
rs146220228
|
0.00222
|
NM_000492.4(CFTR):c.1210-13del
|
rs750294275
|
0.00222
|
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met)
|
rs139971481
|
0.00222
|
NM_021870.3(FGG):c.323C>G (p.Ala108Gly)
|
rs148685782
|
0.00222
|
NM_014874.4(MFN2):c.892G>A (p.Gly298Arg)
|
rs41278630
|
0.00221
|
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe)
|
rs145891889
|
0.00220
|
NM_005916.5(MCM7):c.1417G>A (p.Gly473Ser)
|
rs2307347
|
0.00220
|
NM_016932.5(SIX2):c.722C>T (p.Pro241Leu)
|
rs147806994
|
0.00220
|
NM_144773.4(PROKR2):c.518T>G (p.Leu173Arg)
|
rs74315416
|
0.00220
|
NM_144964.4(TRMT10B):c.866A>T (p.Tyr289Phe)
|
rs199618338
|
0.00220
|
NM_144964.4(TRMT10B):c.867C>A (p.Tyr289Ter)
|
rs200754365
|
0.00220
|
NM_001242896.3(DEPDC5):c.2020C>T (p.Arg674Cys)
|
rs181347577
|
0.00218
|
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_144997.7(FLCN):c.1333G>A (p.Ala445Thr)
|
rs41419545
|
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_005236.3(ERCC4):c.1812-5T>C
|
rs2020952
|
0.00215
|
NM_006495.4(EVI2B):c.1019C>G (p.Pro340Arg)
|
rs17884293
|
0.00215
|
NM_001171.6(ABCC6):c.742C>T (p.Leu248Phe)
|
rs72653756
|
0.00214
|
NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp)
|
rs77021998
|
0.00214
|
NM_000057.4(BLM):c.254G>C (p.Arg85Thr)
|
rs141503266
|
0.00213
|
NM_006005.3(WFS1):c.712+16G>A
|
rs71524367
|
0.00213
|
NM_000077.5(CDKN2A):c.150+37G>C
|
rs45456595
|
0.00212
|
NM_000492.4(CFTR):c.2620-15C>G
|
rs139379077
|
0.00212
|
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys)
|
rs28929470
|
0.00211
|
NM_001999.4(FBN2):c.829G>A (p.Val277Ile)
|
rs146849637
|
0.00210
|
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_139027.6(ADAMTS13):c.1370C>T (p.Pro457Leu)
|
rs36220240
|
0.00209
|
NM_000059.4(BRCA2):c.2926T>A (p.Ser976Thr)
|
rs144862123
|
0.00208
|
NM_000059.4(BRCA2):c.2927C>T (p.Ser976Phe)
|
rs11571656
|
0.00208
|
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe)
|
rs1800111
|
0.00208
|
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys)
|
rs143184877
|
0.00208
|
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)
|
rs147241704
|
0.00207
|
NM_000065.5(C6):c.1138del (p.Gln380fs)
|
rs375762365
|
0.00206
|
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
NM_004366.6(CLCN2):c.218G>A (p.Arg73His)
|
rs144412275
|
0.00205
|
NM_005431.2(XRCC2):c.808T>G (p.Phe270Val)
|
rs145085742
|
0.00205
|
NM_019616.4(F7):c.533T>G (p.Ile178Ser)
|
rs141219108
|
0.00205
|
NM_000500.9(CYP21A2):c.597A>T (p.Leu199Phe)
|
rs143240527
|
0.00204
|
NM_003888.4(ALDH1A2):c.451G>T (p.Ala151Ser)
|
rs115875978
|
0.00204
|
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys)
|
rs55977008
|
0.00203
|
NM_019112.4(ABCA7):c.5570+5G>C
|
rs200538373
|
0.00203
|
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro)
|
rs11571746
|
0.00202
|
NM_000540.3(RYR1):c.2677G>A (p.Gly893Ser)
|
rs147336515
|
0.00202
|
NM_001370259.2(MEN1):c.-24+84C>G
|
rs568093485
|
0.00202
|
NM_004807.3(HS6ST1):c.652C>T (p.Pro218Ser)
|
rs200268730
|
0.00202
|
NM_000251.3(MSH2):c.*226A>G
|
rs17225060
|
0.00201
|
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu)
|
rs17883862
|
0.00201
|
NM_000314.8(PTEN):c.254-34T>G
|
rs34047313
|
0.00200
|
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)
|
rs121918007
|
0.00200
|
NM_001242896.3(DEPDC5):c.3683T>C (p.Ile1228Thr)
|
rs200653339
|
0.00200
|
NM_001386094.1(AGBL1):c.3157C>T (p.Arg1053Trp)
|
rs185919705
|
0.00200
|
NM_004840.3(ARHGEF6):c.169T>C (p.Cys57Arg)
|
rs147131853
|
0.00200
|
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His)
|
rs183885357
|
0.00200
|
NM_000314.8(PTEN):c.209+84G>A
|
rs185262832
|
0.00199
|
NM_014215.3(INSRR):c.1660C>T (p.Arg554Cys)
|
rs56068937
|
0.00199
|
NM_000545.8(HNF1A):c.1165T>G (p.Leu389Val)
|
rs115080759
|
0.00198
|
NM_014215.3(INSRR):c.736T>C (p.Cys246Arg)
|
rs56377825
|
0.00197
|
NM_021175.4(HAMP):c.212G>A (p.Gly71Asp)
|
rs104894696
|
0.00197
|
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro)
|
rs4988347
|
0.00197
|
NM_000051.4(ATM):c.8269-14A>T
|
rs114320959
|
0.00195
|
NM_000059.4(BRCA2):c.6937+565T>C
|
rs11571675
|
0.00195
|
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met)
|
rs62622373
|
0.00194
|
NM_000350.3(ABCA4):c.2971G>C (p.Gly991Arg)
|
rs61749455
|
0.00194
|
NM_007272.3(CTRC):c.640-12G>A
|
rs183053579
|
0.00194
|
NM_014795.4(ZEB2):c.807+3G>C
|
rs144925893
|
0.00194
|
NM_138801.3(GALM):c.424G>A (p.Gly142Arg)
|
rs114440198
|
0.00194
|
NM_199242.3(UNC13D):c.847A>G (p.Ile283Val)
|
rs61754871
|
0.00194
|
NM_000500.9(CYP21A2):c.797C>T (p.Ala266Val)
|
rs144029176
|
0.00193
|
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe)
|
rs139912214
|
0.00193
|
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg)
|
rs145169006
|
0.00193
|
NM_005002.5(NDUFA9):c.897-115A>G
|
rs185994125
|
0.00193
|
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile)
|
rs148399850
|
0.00192
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00192
|
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn)
|
rs143340522
|
0.00192
|
NM_004618.5(TOP3A):c.2270C>T (p.Pro757Leu)
|
rs149596894
|
0.00192
|
NM_000059.4(BRCA2):c.231T>G (p.Thr77=)
|
rs114446594
|
0.00191
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_000350.3(ABCA4):c.5196+1159G>A
|
rs80110715
|
0.00191
|
NM_014967.5(FAN1):c.149T>G (p.Met50Arg)
|
rs148404807
|
0.00191
|
NM_000088.4(COL1A1):c.4006-33G>A
|
rs201920224
|
0.00190
|
NM_018706.7(DHTKD1):c.2185G>A (p.Gly729Arg)
|
rs117225135
|
0.00190
|
NM_024589.3(ROGDI):c.522C>T (p.Ser174=)
|
rs150687774
|
0.00190
|
NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe)
|
rs139596860
|
0.00189
|
NM_000245.4(MET):c.1715G>A (p.Ser572Asn)
|
rs199771406
|
0.00188
|
NM_000249.4(MLH1):c.790+10A>G
|
rs182733777
|
0.00188
|
NM_002485.5(NBN):c.283G>A (p.Asp95Asn)
|
rs61753720
|
0.00188
|
NM_153704.6(TMEM67):c.1078A>G (p.Thr360Ala)
|
rs140191346
|
0.00188
|
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)
|
rs56128736
|
0.00186
|
NM_001308093.3(GATA4):c.*1168T>C
|
rs549543886
|
0.00185
|
NM_003000.3(SDHB):c.32G>A (p.Arg11His)
|
rs111430410
|
0.00185
|
NM_000251.3(MSH2):c.23C>T (p.Thr8Met)
|
rs17217716
|
0.00184
|
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg)
|
rs147373451
|
0.00184
|
NM_001378418.1(TCF20):c.4670C>T (p.Pro1557Leu)
|
rs199838890
|
0.00183
|
NM_031276.3(TEX11):c.2047G>A (p.Ala683Thr)
|
rs140984555
|
0.00183
|
NM_152424.4(AMER1):c.85G>A (p.Ala29Thr)
|
rs138399473
|
0.00183
|
NM_198488.5(FAM83H):c.1669G>T (p.Gly557Cys)
|
rs312262803
|
0.00183
|
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala)
|
rs28897710
|
0.00182
|
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)
|
rs137852769
|
0.00182
|
NM_001378414.1(HDAC4):c.2371G>A (p.Ala791Thr)
|
rs61754648
|
0.00181
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
NM_000214.3(JAG1):c.2810G>A (p.Arg937Gln)
|
rs145895196
|
0.00180
|
NM_001098484.3(SLC4A4):c.149G>C (p.Gly50Ala)
|
rs41265669
|
0.00180
|
NM_004006.3(DMD):c.9682T>C (p.Phe3228Leu)
|
rs141392048
|
0.00180
|
NM_000124.4(ERCC6):c.3122A>C (p.Gln1041Pro)
|
rs139007661
|
0.00179
|
NM_003000.3(SDHB):c.423+20T>A
|
rs190139590
|
0.00179
|
NM_000129.4(F13A1):c.1730C>T (p.Thr577Met)
|
rs143711562
|
0.00178
|
NM_000335.5(SCN5A):c.1852C>T (p.Leu618Phe)
|
rs45488304
|
0.00178
|
NM_000350.3(ABCA4):c.3113C>T (p.Ala1038Val)
|
rs61751374
|
0.00178
|
NM_001009944.3(PKD1):c.12460C>T (p.Arg4154Cys)
|
rs115538130
|
0.00178
|
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe)
|
rs77724903
|
0.00178
|
NM_152564.5(VPS13B):c.11195G>A (p.Arg3732Gln)
|
rs149318176
|
0.00178
|
NM_152564.5(VPS13B):c.3866C>G (p.Thr1289Ser)
|
rs145569846
|
0.00178
|
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg)
|
rs35736435
|
0.00177
|
NM_000371.4(TTR):c.416C>T (p.Thr139Met)
|
rs28933981
|
0.00177
|
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)
|
rs116373169
|
0.00177
|
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met)
|
rs142433309
|
0.00177
|
NM_000465.4(BARD1):c.33G>T (p.Gln11His)
|
rs143914387
|
0.00176
|
NM_001256789.3(CACNA1F):c.2204A>C (p.Asn735Thr)
|
rs141159097
|
0.00176
|
NM_002691.4(POLD1):c.773C>T (p.Thr258Met)
|
rs76131127
|
0.00176
|
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)
|
rs121912691
|
0.00175
|
NM_001710.6(CFB):c.724A>C (p.Ile242Leu)
|
rs144812066
|
0.00175
|
NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter)
|
rs587780057
|
0.00174
|
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_000057.4(BLM):c.2119C>T (p.Pro707Ser)
|
rs146077918
|
0.00172
|
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_002875.5(RAD51):c.449G>A (p.Arg150Gln)
|
rs121917739
|
0.00171
|
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val)
|
rs183156491
|
0.00171
|
NM_004738.5(VAPB):c.510G>A (p.Met170Ile)
|
rs143144050
|
0.00170
|
NM_006231.4(POLE):c.4523G>A (p.Arg1508His)
|
rs142508245
|
0.00170
|
NM_015693.4(INTU):c.1354G>A (p.Ala452Thr)
|
rs150681845
|
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_024818.6(UBA5):c.1111G>A (p.Ala371Thr)
|
rs114925667
|
0.00169
|
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg)
|
rs55969723
|
0.00168
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_000369.5(TSHR):c.357T>A (p.Pro119=)
|
rs144084915
|
0.00168
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_002878.4(RAD51D):c.568G>A (p.Ala190Thr)
|
rs80116829
|
0.00167
|
NM_000051.4(ATM):c.609C>T (p.Asp203=)
|
rs144709948
|
0.00166
|
NM_015268.4(DNAJC13):c.5684C>T (p.Thr1895Met)
|
rs145242123
|
0.00166
|
NM_000051.4(ATM):c.7788+8G>T
|
rs112775908
|
0.00165
|
NM_177438.3(DICER1):c.20A>G (p.Gln7Arg)
|
rs117358479
|
0.00165
|
NM_033337.2(CAV3):c.216C>G (p.Cys72Trp)
|
rs116840776
|
0.00164
|
NM_207034.3(EDN3):c.670G>A (p.Ala224Thr)
|
rs11570351
|
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_001371986.1(UNC80):c.1806G>C (p.Gln602His)
|
rs200473652
|
0.00163
|
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp)
|
rs45568335
|
0.00163
|
NM_000096.4(CP):c.2684G>C (p.Gly895Ala)
|
rs139633388
|
0.00162
|
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val)
|
rs142403318
|
0.00162
|
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)
|
rs145588689
|
0.00162
|
NM_001174096.2(ZEB1):c.2717C>G (p.Ala906Gly)
|
rs78449005
|
0.00162
|
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln)
|
rs151272083
|
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_001354604.2(MITF):c.1273G>A (p.Glu425Lys)
|
rs149617956
|
0.00160
|
NM_001377265.1(MAPT):c.1505C>T (p.Ser502Phe)
|
rs143956882
|
0.00160
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)
|
rs138213197
|
0.00160
|
NM_000179.3(MSH6):c.3801+17T>C
|
rs3136365
|
0.00159
|
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)
|
rs121918799
|
0.00159
|
NM_002691.4(POLD1):c.80A>T (p.Asp27Val)
|
rs150066950
|
0.00159
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs113994094
|
0.00159
|
NM_004360.5(CDH1):c.2292C>T (p.Asp764=)
|
rs61747636
|
0.00159
|
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys)
|
rs4987046
|
0.00158
|
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile)
|
rs3211299
|
0.00158
|
NM_000321.3(RB1):c.380+10C>G
|
rs187110786
|
0.00158
|
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile)
|
rs193922639
|
0.00158
|
NM_178857.6(RP1L1):c.568C>T (p.Arg190Cys)
|
rs202110498
|
0.00158
|
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val)
|
rs142679083
|
0.00157
|
NM_001372051.1(CASP8):c.803-2986C>G
|
rs372086843
|
0.00157
|
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)
|
rs28934897
|
0.00156
|
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)
|
rs45517423
|
0.00156
|
NM_007055.4(POLR3A):c.1909+22G>A
|
rs191875469
|
0.00156
|
NM_004315.6(ASAH1):c.35G>C (p.Arg12Pro)
|
rs147896487
|
0.00155
|
NM_004360.5(CDH1):c.164-45T>C
|
rs189978842
|
0.00155
|
NM_000124.4(ERCC6):c.4223A>C (p.Glu1408Ala)
|
rs61760167
|
0.00154
|
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met)
|
rs3219496
|
0.00154
|
NM_001165963.4(SCN1A):c.1625G>A (p.Arg542Gln)
|
rs121918817
|
0.00154
|
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro)
|
rs76723693
|
0.00154
|
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala)
|
rs142992009
|
0.00153
|
NM_002769.5(PRSS1):c.86A>C (p.Asn29Thr)
|
rs111033566
|
0.00153
|
NM_080680.3(COL11A2):c.2336C>T (p.Pro779Leu)
|
rs150877886
|
0.00153
|
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly)
|
rs146044282
|
0.00152
|
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser)
|
rs181250704
|
0.00151
|
NM_001486.4(GCKR):c.307G>A (p.Val103Met)
|
rs146175795
|
0.00151
|
NM_001846.4(COL4A2):c.5068G>A (p.Ala1690Thr)
|
rs201105747
|
0.00151
|
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)
|
rs121912616
|
0.00150
|
NM_001943.5(DSG2):c.166G>A (p.Val56Met)
|
rs121913013
|
0.00150
|
NM_006446.5(SLCO1B1):c.1738C>T (p.Arg580Ter)
|
rs71581941
|
0.00150
|
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=)
|
rs147448807
|
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_000053.4(ATP7B):c.1995G>A (p.Met665Ile)
|
rs72552259
|
0.00149
|
NM_001110.4(ADAM10):c.510G>C (p.Gln170His)
|
rs61751103
|
0.00149
|
NM_152424.4(AMER1):c.401A>C (p.His134Pro)
|
rs146489129
|
0.00149
|
NM_001177316.2(SLC34A3):c.790G>A (p.Gly264Ser)
|
rs148072630
|
0.00148
|
NM_001379200.1(TBX1):c.955G>A (p.Gly319Ser)
|
rs41298838
|
0.00148
|
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln)
|
rs144830948
|
0.00148
|
NM_003865.2(HESX1):c.-276T>G
|
rs983243
|
0.00148
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
NM_001369268.1(ACAN):c.230G>A (p.Arg77His)
|
rs199701329
|
0.00147
|
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp)
|
rs61734354
|
0.00146
|
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu)
|
rs80358600
|
0.00146
|
NM_001363711.2(DUOX2):c.598G>A (p.Gly200Arg)
|
rs2467827
|
0.00146
|
NM_000492.4(CFTR):c.853A>T (p.Ile285Phe)
|
rs151073129
|
0.00145
|
NM_002485.5(NBN):c.511A>G (p.Ile171Val)
|
rs61754966
|
0.00145
|
NM_004360.5(CDH1):c.2440-6C>G
|
rs139757930
|
0.00145
|
NM_006766.5(KAT6A):c.4952C>T (p.Pro1651Leu)
|
rs144417514
|
0.00145
|
NM_014694.4(ADAMTSL2):c.2042G>A (p.Arg681Gln)
|
rs553955759
|
0.00145
|
NM_000335.5(SCN5A):c.3919C>T (p.Leu1307Phe)
|
rs41313031
|
0.00144
|
NM_001127208.3(TET2):c.521C>A (p.Pro174His)
|
rs146031219
|
0.00144
|
NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter)
|
rs150597413
|
0.00144
|
NM_170665.4(ATP2A2):c.2945C>T (p.Thr982Met)
|
rs149024535
|
0.00144
|
NM_000249.4(MLH1):c.2146G>A (p.Val716Met)
|
rs35831931
|
0.00143
|
NM_000251.3(MSH2):c.1387-8G>T
|
rs187525243
|
0.00143
|
NM_000535.7(PMS2):c.2395C>T (p.Arg799Trp)
|
rs149202766
|
0.00142
|
NM_002691.4(POLD1):c.2967G>A (p.Thr989=)
|
rs3218752
|
0.00142
|
NM_000044.6(AR):c.2180G>T (p.Arg727Leu)
|
rs137852593
|
0.00141
|
NM_000059.4(BRCA2):c.9634G>C (p.Gly3212Arg)
|
rs55775473
|
0.00141
|
NM_001355436.2(SPTB):c.3679C>T (p.Pro1227Ser)
|
rs149186357
|
0.00141
|
NM_005431.2(XRCC2):c.40-16T>C
|
rs41274991
|
0.00141
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu)
|
rs142551229
|
0.00140
|
NM_000512.5(GALNS):c.1462G>A (p.Val488Met)
|
rs78127134
|
0.00140
|
NM_002691.4(POLD1):c.2577C>T (p.Gly859=)
|
rs149366027
|
0.00140
|
NM_014425.5(INVS):c.913G>A (p.Val305Ile)
|
rs116438342
|
0.00140
|
NM_015570.4(AUTS2):c.611A>G (p.Glu204Gly)
|
rs149961458
|
0.00140
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00139
|
NM_017559.4(FNDC8):c.121A>G (p.Met41Val)
|
rs149433213
|
0.00139
|
NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu)
|
rs55816687
|
0.00138
|
NM_000213.5(ITGB4):c.3112-3C>T
|
rs151033645
|
0.00138
|
NM_000251.3(MSH2):c.1737A>G (p.Lys579=)
|
rs61756467
|
0.00138
|
NM_001372574.1(ATXN2):c.-266C>T
|
rs536609944
|
0.00138
|
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)
|
rs150766139
|
0.00138
|
NM_194454.3(KRIT1):c.*132T>G
|
rs572414111
|
0.00138
|
NM_000044.6(AR):c.2395C>G (p.Gln799Glu)
|
rs137852591
|
0.00137
|
NM_000051.4(ATM):c.998C>T (p.Ser333Phe)
|
rs28904919
|
0.00137
|
NM_000540.3(RYR1):c.2797G>A (p.Ala933Thr)
|
rs148623597
|
0.00137
|
NM_001999.4(FBN2):c.2260G>A (p.Gly754Ser)
|
rs145259927
|
0.00137
|
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp)
|
rs1800709
|
0.00137
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_000350.3(ABCA4):c.2791G>A (p.Val931Met)
|
rs58331765
|
0.00136
|
NM_001198800.3(ASCC1):c.869A>G (p.Asn290Ser)
|
rs146370051
|
0.00135
|
NM_002691.4(POLD1):c.2007-4G>A
|
rs202035484
|
0.00135
|
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)
|
rs74315294
|
0.00134
|
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)
|
rs1800073
|
0.00134
|
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu)
|
rs148002300
|
0.00134
|
NM_058195.4(CDKN2A):c.194-3652G>C
|
rs531597737
|
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_194248.3(OTOF):c.5063C>T (p.Thr1688Met)
|
rs111033393
|
0.00133
|
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=)
|
rs28897762
|
0.00132
|
NM_001330260.2(SCN8A):c.3822C>T (p.Val1274=)
|
rs187327463
|
0.00132
|
NM_001083962.2(TCF4):c.923-27T>G
|
rs368057502
|
0.00131
|
NM_001363711.2(DUOX2):c.1709A>T (p.Gln570Leu)
|
rs547116063
|
0.00131
|
NM_004369.4(COL6A3):c.7258C>T (p.Arg2420Trp)
|
rs150165484
|
0.00131
|
NM_017429.3(BCO1):c.509C>T (p.Thr170Met)
|
rs119478057
|
0.00131
|
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)
|
rs35719192
|
0.00130
|
NM_015404.4(WHRN):c.33C>G (p.Ser11Arg)
|
rs45527543
|
0.00130
|
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr)
|
rs139866691
|
0.00129
|
NM_000059.4(BRCA2):c.-123G>T
|
rs55641815
|
0.00128
|
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn)
|
rs149606212
|
0.00128
|
NM_000256.3(MYBPC3):c.3106C>T (p.Arg1036Cys)
|
rs61729664
|
0.00128
|
NM_000342.4(SLC4A1):c.2716G>C (p.Glu906Gln)
|
rs199694087
|
0.00128
|
NM_003072.5(SMARCA4):c.1419+9C>T
|
rs374635008
|
0.00128
|
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser)
|
rs28897747
|
0.00127
|
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=)
|
rs55865524
|
0.00127
|
NM_001130438.3(SPTAN1):c.1330G>A (p.Val444Ile)
|
rs77358650
|
0.00127
|
NM_006231.4(POLE):c.296C>T (p.Pro99Leu)
|
rs5744739
|
0.00127
|
NC_000004.12:g.1394562G>A
|
rs77782813
|
0.00126
|
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile)
|
rs144761622
|
0.00126
|
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg)
|
rs140781259
|
0.00126
|
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala)
|
rs80265967
|
0.00126
|
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr)
|
rs72466590
|
0.00126
|
NM_004615.4(TSPAN7):c.515C>A (p.Pro172His)
|
rs104894951
|
0.00126
|
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)
|
rs4988008
|
0.00125
|
NM_015443.4(KANSL1):c.2718T>G (p.Asn906Lys)
|
rs139615350
|
0.00125
|
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_000154.2(GALK1):c.593C>T (p.Ala198Val)
|
rs80084721
|
0.00124
|
NM_001386094.1(AGBL1):c.3044G>C (p.Cys1015Ser)
|
rs181958589
|
0.00124
|
NM_178857.6(RP1L1):c.5959C>T (p.Gln1987Ter)
|
rs200846354
|
0.00124
|
NM_000443.4(ABCB4):c.101C>T (p.Thr34Met)
|
rs142794414
|
0.00123
|
NM_002473.6(MYH9):c.4198C>T (p.Arg1400Trp)
|
rs76368635
|
0.00123
|
NM_002878.4(RAD51D):c.263+1588A>G
|
rs180869630
|
0.00123
|
NM_002907.4(RECQL):c.1798-2A>T
|
rs756192830
|
0.00123
|
NM_006231.4(POLE):c.861T>A (p.Asp287Glu)
|
rs139075637
|
0.00122
|
NM_006432.5(NPC2):c.88G>A (p.Val30Met)
|
rs151220873
|
0.00122
|
NM_194248.3(OTOF):c.2381G>A (p.Arg794His)
|
rs80356592
|
0.00122
|
NM_000243.3(MEFV):c.124C>T (p.Arg42Trp)
|
rs61754767
|
0.00121
|
NM_002469.3(MYF6):c.334G>T (p.Ala112Ser)
|
rs28928909
|
0.00121
|
NM_006204.4(PDE6C):c.413T>C (p.Leu138Ser)
|
rs139456217
|
0.00121
|
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)
|
rs45478192
|
0.00121
|
NM_000256.3(MYBPC3):c.1564G>A (p.Ala522Thr)
|
rs11570082
|
0.00120
|
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_001875.5(CPS1):c.3643A>G (p.Ile1215Val)
|
rs141373204
|
0.00119
|
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val)
|
rs78972735
|
0.00119
|
NM_000365.6(TPI1):c.463G>A (p.Val155Met)
|
rs188138723
|
0.00118
|
NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter)
|
rs11574410
|
0.00118
|
NM_002529.4(NTRK1):c.865C>A (p.Gln289Lys)
|
rs137979116
|
0.00118
|
NM_002968.3(SALL1):c.3794G>A (p.Gly1265Glu)
|
rs149302006
|
0.00118
|
NM_004463.3(FGD1):c.395G>A (p.Arg132Gln)
|
rs145644275
|
0.00117
|
NM_007294.4(BRCA1):c.591C>T (p.Cys197=)
|
rs1799965
|
0.00117
|
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287
|
0.00117
|
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
|
rs1801155
|
0.00116
|
NM_000044.6(AR):c.1960G>A (p.Glu654Lys)
|
rs200737258
|
0.00116
|
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu)
|
rs143523271
|
0.00116
|
NM_002878.4(RAD51D):c.146C>T (p.Ala49Val)
|
rs140317560
|
0.00116
|
NM_002878.4(RAD51D):c.263+1509C>T
|
rs201506572
|
0.00116
|
NM_003072.5(SMARCA4):c.76G>A (p.Ala26Thr)
|
rs145867502
|
0.00116
|
NM_005557.4(KRT16):c.1062A>T (p.Lys354Asn)
|
rs59328451
|
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_001130987.2(DYSF):c.4253C>G (p.Pro1418Arg)
|
rs138268837
|
0.00115
|
NM_001807.6(CEL):c.2172del (p.Val725fs)
|
rs780419796
|
0.00115
|
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr)
|
rs112215250
|
0.00115
|
NM_003977.4(AIP):c.911G>A (p.Arg304Gln)
|
rs104894190
|
0.00115
|
NM_004612.4(TGFBR1):c.457G>A (p.Val153Ile)
|
rs56014374
|
0.00115
|
NM_000033.4(ABCD1):c.707G>A (p.Arg236His)
|
rs201455322
|
0.00114
|
NM_000038.6(APC):c.423-17T>A
|
rs534684461
|
0.00114
|
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg)
|
rs150367385
|
0.00114
|
NM_002591.4(PCK1):c.925G>A (p.Gly309Arg)
|
rs201186470
|
0.00113
|
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys)
|
rs116998555
|
0.00113
|
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)
|
rs28997570
|
0.00113
|
NM_000123.4(ERCC5):c.1768G>A (p.Val590Ile)
|
rs4150318
|
0.00111
|
NM_014956.5(CEP164):c.4228C>T (p.Gln1410Ter)
|
rs147398904
|
0.00111
|
NM_000044.6(AR):c.1424C>T (p.Ala475Val)
|
rs200390780
|
0.00110
|
NM_000249.4(MLH1):c.-28A>G
|
rs56198082
|
0.00110
|
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile)
|
rs145473716
|
0.00110
|
NM_002907.4(RECQL):c.1215A>C (p.Ala405=)
|
rs147610182
|
0.00110
|
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser)
|
rs142959373
|
0.00109
|
NM_004006.3(DMD):c.7571G>A (p.Arg2524His)
|
rs151244052
|
0.00109
|
NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln)
|
rs141828689
|
0.00109
|
NM_033109.5(PNPT1):c.1525G>A (p.Val509Ile)
|
rs146571352
|
0.00109
|
NM_000336.3(SCNN1B):c.1152+10T>C
|
rs72654341
|
0.00108
|
NM_000540.3(RYR1):c.11798A>G (p.Tyr3933Cys)
|
rs147136339
|
0.00108
|
NM_004366.6(CLCN2):c.704G>A (p.Arg235Gln)
|
rs71318369
|
0.00108
|
NM_015278.5(SASH1):c.2459G>A (p.Arg820Gln)
|
rs144633784
|
0.00108
|
NM_058216.3(RAD51C):c.571+64C>A
|
rs181988623
|
0.00108
|
NM_144670.6(A2ML1):c.4061+1G>A
|
rs202067416
|
0.00108
|
NM_152222.2(RELT):c.1264C>T (p.Arg422Trp)
|
rs139368769
|
0.00108
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
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_000059.4(BRCA2):c.9235G>A (p.Val3079Ile)
|
rs55933907
|
0.00106
|
NM_000256.3(MYBPC3):c.3413G>A (p.Arg1138His)
|
rs187705120
|
0.00106
|
NM_000271.5(NPC1):c.881+82G>A
|
rs562046566
|
0.00106
|
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser)
|
rs1800110
|
0.00106
|
NM_001399.5(EDA):c.458G>A (p.Arg153His)
|
rs140642493
|
0.00106
|
NM_015215.4(CAMTA1):c.4007C>T (p.Thr1336Ile)
|
rs137974312
|
0.00106
|
NM_139027.6(ADAMTS13):c.2708C>T (p.Ser903Leu)
|
rs78977446
|
0.00106
|
NM_199242.3(UNC13D):c.2542A>C (p.Ile848Leu)
|
rs144968313
|
0.00106
|
NM_199242.3(UNC13D):c.2983G>C (p.Ala995Pro)
|
rs138760432
|
0.00105
|
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)
|
rs147213895
|
0.00104
|
NM_006493.4(CLN5):c.-146T>C
|
rs201615354
|
0.00104
|
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter)
|
rs147021911
|
0.00104
|
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp)
|
rs28997569
|
0.00104
|
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)
|
rs138327406
|
0.00103
|
NM_000059.4(BRCA2):c.7805+23G>A
|
rs113653200
|
0.00103
|
NM_000237.2(LPL):c.-241G>C
|
rs540525285
|
0.00103
|
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr)
|
rs61752878
|
0.00103
|
NM_000358.3(TGFBI):c.1998G>C (p.Arg666Ser)
|
rs121909217
|
0.00103
|
NM_002691.4(POLD1):c.3054G>A (p.Val1018=)
|
rs369613619
|
0.00103
|
NM_006412.4(AGPAT2):c.646A>T (p.Lys216Ter)
|
rs138994150
|
0.00103
|
NM_017534.6(MYH2):c.2270T>C (p.Ile757Thr)
|
rs117390537
|
0.00103
|
NM_024675.4(PALB2):c.1194G>A (p.Val398=)
|
rs61755173
|
0.00103
|
NM_000057.4(BLM):c.11T>C (p.Val4Ala)
|
rs144706057
|
0.00102
|
NM_000059.4(BRCA2):c.6057C>T (p.Asn2019=)
|
rs147961615
|
0.00102
|
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met)
|
rs139524121
|
0.00102
|
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_000051.4(ATM):c.2125-48T>C
|
rs371067508
|
0.00101
|
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His)
|
rs146504767
|
0.00101
|
NM_000548.5(TSC2):c.275A>T (p.Glu92Val)
|
rs137853994
|
0.00101
|
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln)
|
rs75654767
|
0.00101
|
NM_005263.5(GFI1):c.-14A>C
|
rs200972824
|
0.00101
|
NC_000022.11:g.28742014G>A
|
rs187164042
|
0.00100
|
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_006080.3(SEMA3A):c.1198A>G (p.Ile400Val)
|
rs36026860
|
0.00100
|
NM_005245.4(FAT1):c.4358G>A (p.Arg1453His)
|
rs186220887
|
0.00099
|
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter)
|
rs120074160
|
0.00099
|
NM_001098816.3(TENM4):c.1553G>A (p.Arg518Gln)
|
rs201191369
|
0.00098
|
NM_002691.4(POLD1):c.1620C>T (p.Gly540=)
|
rs140216790
|
0.00098
|
NM_004006.3(DMD):c.2261G>T (p.Gly754Val)
|
rs151242451
|
0.00098
|
NM_004959.5(NR5A1):c.368G>C (p.Gly123Ala)
|
rs200163795
|
0.00098
|
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr)
|
rs4986854
|
0.00098
|
NM_015570.4(AUTS2):c.385C>G (p.Leu129Val)
|
rs145480547
|
0.00098
|
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)
|
rs137854523
|
0.00098
|
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=)
|
rs11571655
|
0.00097
|
NM_000179.3(MSH6):c.3802-22G>A
|
rs373409282
|
0.00097
|
NM_001009944.3(PKD1):c.10678G>A (p.Gly3560Arg)
|
rs79000340
|
0.00097
|
NM_002382.5(MAX):c.172-6230G>A
|
rs148339628
|
0.00097
|
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)
|
rs34231402
|
0.00096
|
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala)
|
rs1800061
|
0.00096
|
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=)
|
rs28897711
|
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_001128425.2(MUTYH):c.36+214G>C
|
rs568514678
|
0.00096
|
NM_001283009.2(RTEL1):c.3049G>A (p.Asp1017Asn)
|
rs61736617
|
0.00096
|
NM_015102.5(NPHP4):c.2203C>T (p.Arg735Trp)
|
rs191913664
|
0.00096
|
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr)
|
rs116471343
|
0.00096
|
NM_007294.4(BRCA1):c.3022A>G (p.Met1008Val)
|
rs56321129
|
0.00095
|
NM_000496.3(CRYBB2):c.559G>A (p.Val187Met)
|
rs143080187
|
0.00094
|
NM_000552.5(VWF):c.5278G>A (p.Val1760Ile)
|
rs61750604
|
0.00094
|
NM_001244008.2(KIF1A):c.2754T>G (p.Asp918Glu)
|
rs143816642
|
0.00094
|
NM_031448.6(C19orf12):c.391A>G (p.Lys131Glu)
|
rs146170087
|
0.00094
|
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln)
|
rs147549623
|
0.00093
|
NM_000261.2(MYOC):c.1054G>A (p.Glu352Lys)
|
rs61745146
|
0.00093
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
NM_016042.4(EXOSC3):c.238G>T (p.Val80Phe)
|
rs374550999
|
0.00093
|
NM_024864.5(MRM1):c.504C>G (p.Phe168Leu)
|
rs138258458
|
0.00093
|
NM_172351.3(CD46):c.1103C>T (p.Thr368Ile)
|
rs146803767
|
0.00093
|
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser)
|
rs35224686
|
0.00092
|
NM_000383.4(AIRE):c.901G>A (p.Val301Met)
|
rs150634562
|
0.00092
|
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_002281.4(KRT81):c.846T>A (p.Tyr282Ter)
|
rs138597671
|
0.00092
|
NM_024757.5(EHMT1):c.737G>A (p.Arg246Gln)
|
rs144871446
|
0.00092
|
NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu)
|
rs41303899
|
0.00092
|
NM_000038.6(APC):c.835-24A>T
|
rs200399868
|
0.00091
|
NM_000136.3(FANCC):c.178G>A (p.Val60Ile)
|
rs138629441
|
0.00091
|
NM_000277.3(PAH):c.158G>A (p.Arg53His)
|
rs118092776
|
0.00091
|
NM_000518.5(HBB):c.-79A>G
|
rs34598529
|
0.00091
|
NM_001097577.3(ANG):c.122A>T (p.Lys41Ile)
|
rs121909536
|
0.00091
|
NM_001127222.2(CACNA1A):c.2687C>G (p.Pro896Arg)
|
rs121908242
|
0.00091
|
NM_012140.5(SLC25A10):c.657C>T (p.Pro219=)
|
rs114621664
|
0.00091
|
NM_021076.4(NEFH):c.2368_2370del (p.Lys790del)
|
rs59551486
|
0.00091
|
NM_139281.3(WDR36):c.1418G>A (p.Arg473Gln)
|
rs116529882
|
0.00091
|
NM_000057.4(BLM):c.3592G>A (p.Val1198Met)
|
rs142928725
|
0.00090
|
NM_000492.4(CFTR):c.1523T>G (p.Phe508Cys)
|
rs74571530
|
0.00090
|
NM_213599.3(ANO5):c.2141C>G (p.Thr714Ser)
|
rs200631556
|
0.00090
|
NM_000261.2(MYOC):c.1102C>T (p.Gln368Ter)
|
rs74315329
|
0.00089
|
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys)
|
rs201680145
|
0.00089
|
NM_006891.4(CRYGD):c.181G>T (p.Gly61Cys)
|
rs150857132
|
0.00089
|
NM_018060.4(IARS2):c.2122G>A (p.Glu708Lys)
|
rs143722284
|
0.00089
|
NM_025216.3(WNT10A):c.208C>T (p.Arg70Trp)
|
rs146460077
|
0.00089
|
NM_052995.2(CLRN1):c.300T>G (p.Tyr100Ter)
|
rs121908140
|
0.00089
|
NM_000038.6(APC):c.6821C>T (p.Ala2274Val)
|
rs34919187
|
0.00088
|
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu)
|
rs118169528
|
0.00088
|
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu)
|
rs200313585
|
0.00088
|
NM_000535.7(PMS2):c.497T>C (p.Leu166Pro)
|
rs116349687
|
0.00088
|
NM_002907.4(RECQL):c.1859C>G (p.Ser620Ter)
|
rs142038240
|
0.00088
|
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter)
|
rs144567652
|
0.00088
|
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn)
|
rs41294980
|
0.00087
|
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His)
|
rs121918769
|
0.00087
|
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter)
|
rs121908119
|
0.00087
|
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu)
|
rs149126845
|
0.00087
|
NM_000268.4(NF2):c.1386C>T (p.Arg462=)
|
rs138354622
|
0.00086
|
NM_000358.3(TGFBI):c.1870G>A (p.Val624Met)
|
rs200201691
|
0.00086
|
NM_000465.4(BARD1):c.216-13A>T
|
rs1272210676
|
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_001904.4(CTNNB1):c.860A>G (p.Asn287Ser)
|
rs35288908
|
0.00086
|
NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys)
|
rs148104494
|
0.00086
|
NM_003764.4(STX11):c.616G>A (p.Glu206Lys)
|
rs145347140
|
0.00086
|
NM_181486.4(TBX5):c.316A>G (p.Ile106Val)
|
rs147710408
|
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_198578.4(LRRK2):c.2378G>T (p.Arg793Met)
|
rs35173587
|
0.00085
|
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn)
|
rs142274954
|
0.00083
|
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)
|
rs111033243
|
0.00083
|
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)
|
rs35516286
|
0.00083
|
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=)
|
rs147955381
|
0.00083
|
NM_002878.4(RAD51D):c.919G>A (p.Glu307Lys)
|
rs115031549
|
0.00083
|
NM_003070.5(SMARCA2):c.4717G>A (p.Asp1573Asn)
|
rs61736899
|
0.00083
|
NM_017777.4(MKS1):c.857A>G (p.Asp286Gly)
|
rs151023718
|
0.00083
|
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His)
|
rs139382267
|
0.00083
|
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)
|
rs119103248
|
0.00083
|
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg)
|
rs28897706
|
0.00082
|
NM_000268.4(NF2):c.1451T>C (p.Met484Thr)
|
rs141538143
|
0.00082
|
NM_001202.6(BMP4):c.860G>A (p.Arg287His)
|
rs121912768
|
0.00082
|
NM_002907.4(RECQL):c.395-9C>T
|
rs560242370
|
0.00082
|
NM_004260.4(RECQL4):c.308C>T (p.Pro103Leu)
|
rs199543866
|
0.00082
|
NM_006231.4(POLE):c.139C>T (p.Arg47Trp)
|
rs143626223
|
0.00082
|
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
|
rs149711770
|
0.00081
|
NM_001012720.2(RGR):c.454C>A (p.His152Asn)
|
rs150808273
|
0.00081
|
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys)
|
rs150792276
|
0.00081
|
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)
|
rs200130356
|
0.00081
|
NM_001292063.2(OTOG):c.385G>A (p.Val129Met)
|
rs552304627
|
0.00081
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00081
|
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys)
|
rs35619497
|
0.00081
|
NM_004807.3(HS6ST1):c.917G>A (p.Arg306Gln)
|
rs201307896
|
0.00081
|
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys)
|
rs201617713
|
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_000321.3(RB1):c.1129A>T (p.Thr377Ser)
|
rs146897002
|
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_000335.5(SCN5A):c.1714G>T (p.Ala572Ser)
|
rs184442491
|
0.00079
|
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys)
|
rs79782048
|
0.00079
|
NM_032545.4(CFC1):c.522del (p.Ala175fs)
|
rs746231039
|
0.00079
|
NC_000015.10:g.82540460G>A
|
rs575115395
|
0.00078
|
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)
|
rs112084407
|
0.00078
|
NM_005631.5(SMO):c.2177G>A (p.Arg726Gln)
|
rs142495470
|
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_201253.3(CRB1):c.3992G>A (p.Arg1331His)
|
rs62636285
|
0.00078
|
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr)
|
rs149253719
|
0.00078
|
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly)
|
rs147934285
|
0.00077
|
NM_002469.3(MYF6):c.269C>A (p.Ala90Asp)
|
rs138296448
|
0.00077
|
NM_005491.5(MAMLD1):c.1804C>A (p.Gln602Lys)
|
rs142908182
|
0.00077
|
NM_000350.3(ABCA4):c.5056G>A (p.Val1686Met)
|
rs61753019
|
0.00076
|
NM_000406.3(GNRHR):c.436C>T (p.Pro146Ser)
|
rs144900788
|
0.00076
|
NM_000545.8(HNF1A):c.92G>A (p.Gly31Asp)
|
rs137853247
|
0.00076
|
NM_001048174.2(MUTYH):c.1424G>A (p.Gly475Glu)
|
rs3219494
|
0.00076
|
NM_003482.4(KMT2D):c.3572C>T (p.Pro1191Leu)
|
rs112236653
|
0.00076
|
NM_032043.3(BRIP1):c.195A>G (p.Gln65=)
|
rs141436143
|
0.00076
|
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp)
|
rs145855459
|
0.00076
|
NM_138694.4(PKHD1):c.10926G>A (p.Met3642Ile)
|
rs78518523
|
0.00076
|
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val)
|
rs148432863
|
0.00075
|
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu)
|
rs149729531
|
0.00075
|
NM_000321.3(RB1):c.2566G>A (p.Asp856Asn)
|
rs149359120
|
0.00075
|
NM_000393.5(COL5A2):c.4295A>T (p.Asp1432Val)
|
rs141777954
|
0.00075
|
NM_000500.9(CYP21A2):c.1306C>T (p.Arg436Cys)
|
rs767333157
|
0.00075
|
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro)
|
rs141137543
|
0.00075
|
NM_052961.4(SLC26A8):c.2434G>A (p.Glu812Lys)
|
rs142724470
|
0.00075
|
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe)
|
rs41293475
|
0.00074
|
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr)
|
rs28897708
|
0.00074
|
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn)
|
rs148783445
|
0.00074
|
NM_000726.5(CACNB4):c.311G>T (p.Cys104Phe)
|
rs1805031
|
0.00074
|
NM_005327.4(HADH):c.-51delC
|
rs574132278
|
0.00074
|
NM_016327.3(UPB1):c.977G>A (p.Arg326Gln)
|
rs118163237
|
0.00074
|
NM_058216.3(RAD51C):c.146-8A>G
|
rs201079501
|
0.00074
|
NM_000443.4(ABCB4):c.2144C>T (p.Thr715Ile)
|
rs138773456
|
0.00073
|
NM_000540.3(RYR1):c.10097G>A (p.Arg3366His)
|
rs137932199
|
0.00073
|
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met)
|
rs45517238
|
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_004431.5(EPHA2):c.2162G>A (p.Arg721Gln)
|
rs116506614
|
0.00073
|
NM_005689.4(ABCB6):c.2168G>A (p.Arg723Gln)
|
rs148211042
|
0.00073
|
NM_012062.5(DNM1L):c.1834A>T (p.Ile612Phe)
|
rs138133550
|
0.00073
|
NM_016333.4(SRRM2):c.1037C>T (p.Ser346Phe)
|
rs149019598
|
0.00073
|
NM_000249.4(MLH1):c.2104-11G>A
|
rs147984696
|
0.00072
|
NM_000402.4(G6PD):c.934G>C (p.Asp312His)
|
rs137852318
|
0.00072
|
NM_000492.4(CFTR):c.1210-11_1210-10insG
|
rs551227135
|
0.00072
|
NM_000535.7(PMS2):c.2149G>A (p.Val717Met)
|
rs201671325
|
0.00072
|
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_000051.4(ATM):c.1744T>C (p.Phe582Leu)
|
rs2235006
|
0.00071
|
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr)
|
rs45517203
|
0.00071
|
NM_001130145.3(YAP1):c.832C>T (p.Pro278Ser)
|
rs61746398
|
0.00071
|
NM_002427.4(MMP13):c.1372C>T (p.Arg458Cys)
|
rs142064825
|
0.00071
|
NM_004947.5(DOCK3):c.1175G>A (p.Arg392Gln)
|
rs199600118
|
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_024753.5(TTC21B):c.691A>T (p.Thr231Ser)
|
rs149925563
|
0.00071
|
NM_000138.5(FBN1):c.8176C>T (p.Arg2726Trp)
|
rs61746008
|
0.00070
|
NM_000179.3(MSH6):c.3173-35C>T
|
rs186475107
|
0.00070
|
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_007194.4(CHEK2):c.320-5T>A
|
rs121908700
|
0.00070
|
NM_000180.4(GUCY2D):c.1093C>T (p.Arg365Trp)
|
rs138836357
|
0.00069
|
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu)
|
rs139717960
|
0.00069
|
NM_004006.3(DMD):c.10262+1G>A
|
rs145603325
|
0.00069
|
NM_004360.5(CDH1):c.*746C>A
|
rs140240766
|
0.00069
|
NM_012295.4(CABIN1):c.45T>G (p.Asp15Glu)
|
rs148623569
|
0.00069
|
NM_032043.3(BRIP1):c.3459T>C (p.Asp1153=)
|
rs4987050
|
0.00069
|
NM_000245.4(MET):c.1039G>A (p.Ala347Thr)
|
rs200074800
|
0.00068
|
NM_000475.5(NR0B1):c.376G>A (p.Val126Met)
|
rs193205940
|
0.00068
|
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)
|
rs121909034
|
0.00068
|
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr)
|
rs137854154
|
0.00068
|
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His)
|
rs200324356
|
0.00068
|
NM_001371279.1(REEP1):c.837G>T (p.Ser279=)
|
rs377637314
|
0.00068
|
NM_018941.4(CLN8):c.779C>T (p.Pro260Leu)
|
rs146579299
|
0.00068
|
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala)
|
rs63751005
|
0.00067
|
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly)
|
rs145063086
|
0.00067
|
NM_003098.3(SNTA1):c.440C>A (p.Thr147Asn)
|
rs141724500
|
0.00067
|
NM_007272.3(CTRC):c.217G>A (p.Ala73Thr)
|
rs515726209
|
0.00067
|
NM_014336.5(AIPL1):c.905G>T (p.Arg302Leu)
|
rs62637015
|
0.00067
|
NM_025216.3(WNT10A):c.649G>A (p.Asp217Asn)
|
rs146902156
|
0.00067
|
NM_000128.4(F11):c.403G>T (p.Glu135Ter)
|
rs121965063
|
0.00066
|
NM_000350.3(ABCA4):c.1140T>A (p.Asn380Lys)
|
rs61748549
|
0.00066
|
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val)
|
rs148154172
|
0.00066
|
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser)
|
rs139203363
|
0.00066
|
NM_004006.3(DMD):c.4233+2C>T
|
rs147474070
|
0.00066
|
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln)
|
rs202080221
|
0.00066
|
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=)
|
rs1800740
|
0.00066
|
NM_017514.5(PLXNA3):c.56G>A (p.Gly19Asp)
|
rs202070666
|
0.00066
|
NM_174936.4(PCSK9):c.709C>T (p.Arg237Trp)
|
rs148195424
|
0.00066
|
NM_000128.4(F11):c.901T>C (p.Phe301Leu)
|
rs121965064
|
0.00065
|
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn)
|
rs138874610
|
0.00065
|
NM_001355436.2(SPTB):c.2519G>A (p.Arg840His)
|
rs146326769
|
0.00065
|
NM_006231.4(POLE):c.3046G>A (p.Val1016Met)
|
rs147692158
|
0.00065
|
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile)
|
rs1800704
|
0.00065
|
NM_007294.4(BRCA1):c.981A>G (p.Thr327=)
|
rs1800063
|
0.00065
|
NM_015375.3(DSTYK):c.86G>A (p.Arg29Gln)
|
rs200780796
|
0.00065
|
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp)
|
rs41557217
|
0.00064
|
NM_000518.4(HBB):c.208G>A (p.Gly70Ser)
|
rs33947415
|
0.00064
|
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met)
|
rs61749714
|
0.00064
|
NM_004360.5(CDH1):c.2520C>T (p.Ser840=)
|
rs140328601
|
0.00064
|
NM_006579.3(EBP):c.511C>T (p.Arg171Cys)
|
rs141925556
|
0.00064
|
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn)
|
rs41293447
|
0.00064
|
NM_013275.6(ANKRD11):c.136G>A (p.Asp46Asn)
|
rs144947610
|
0.00064
|
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_005861.4(STUB1):c.433A>C (p.Lys145Gln)
|
rs146251364
|
0.00063
|
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly)
|
rs141619382
|
0.00063
|
NM_006348.5(COG5):c.1826T>C (p.Ile609Thr)
|
rs142433421
|
0.00063
|
NM_007325.5(GRIA3):c.1181G>A (p.Arg394Gln)
|
rs138817389
|
0.00063
|
NM_017563.5(IL17RD):c.392A>C (p.Lys131Thr)
|
rs184758350
|
0.00063
|
NM_030665.4(RAI1):c.3650G>A (p.Arg1217Gln)
|
rs142415050
|
0.00063
|
NM_207122.2(EXT2):c.1760C>T (p.Thr587Met)
|
rs138495222
|
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_000249.4(MLH1):c.375A>G (p.Ala125=)
|
rs1800144
|
0.00062
|
NM_002691.4(POLD1):c.455C>T (p.Ala152Val)
|
rs41563714
|
0.00062
|
NM_002840.5(PTPRF):c.5190C>A (p.His1730Gln)
|
rs145235828
|
0.00062
|
NM_004667.6(HERC2):c.9283G>T (p.Ala3095Ser)
|
rs142753406
|
0.00062
|
NM_005228.5(EGFR):c.3467A>C (p.His1156Pro)
|
rs149174093
|
0.00062
|
NM_012268.4(PLD3):c.851A>G (p.Asn284Ser)
|
rs200274020
|
0.00062
|
NM_017780.4(CHD7):c.7595C>T (p.Thr2532Met)
|
rs201032343
|
0.00062
|
NM_025216.3(WNT10A):c.1087A>C (p.Asn363His)
|
rs34972707
|
0.00062
|
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser)
|
rs138776684
|
0.00061
|
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp)
|
rs36210422
|
0.00061
|
NM_000245.4(MET):c.467C>T (p.Ser156Leu)
|
rs56311081
|
0.00061
|
NM_000249.4(MLH1):c.1039-7_1040del
|
rs1559551447
|
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_001378120.1(MBD5):c.236G>A (p.Gly79Glu)
|
rs34995577
|
0.00061
|
NM_001378615.1(CC2D2A):c.2161C>T (p.Pro721Ser)
|
rs199768782
|
0.00061
|
NM_020041.3(SLC2A9):c.646G>A (p.Gly216Arg)
|
rs561633150
|
0.00061
|
NM_031935.3(HMCN1):c.15614G>A (p.Arg5205His)
|
rs150188026
|
0.00061
|
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val)
|
rs150151955
|
0.00060
|
NM_000455.5(STK11):c.945G>A (p.Pro315=)
|
rs376329042
|
0.00060
|
NM_002691.4(POLD1):c.883G>A (p.Val295Met)
|
rs199545019
|
0.00060
|
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His)
|
rs28897677
|
0.00060
|
NM_198578.4(LRRK2):c.5606T>C (p.Met1869Thr)
|
rs35602796
|
0.00060
|
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys)
|
rs63750897
|
0.00059
|
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)
|
rs143486492
|
0.00059
|
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala)
|
rs146176004
|
0.00059
|
NM_001715.3(BLK):c.1075C>T (p.Arg359Cys)
|
rs146505280
|
0.00059
|
NM_001927.4(DES):c.934G>A (p.Asp312Asn)
|
rs34337334
|
0.00059
|
NM_002485.5(NBN):c.1777C>G (p.Pro593Ala)
|
rs146989944
|
0.00059
|
NM_002485.5(NBN):c.788T>C (p.Phe263Ser)
|
rs147626427
|
0.00059
|
NM_007294.4(BRCA1):c.4691T>C (p.Leu1564Pro)
|
rs56119278
|
0.00059
|
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His)
|
rs202052174
|
0.00059
|
NM_000245.4(MET):c.406G>A (p.Val136Ile)
|
rs199701987
|
0.00058
|
NM_000492.4(CFTR):c.3717+45G>A
|
rs145743767
|
0.00058
|
NM_000531.6(OTC):c.298+5G>C
|
rs72554348
|
0.00058
|
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu)
|
rs17881753
|
0.00058
|
NM_001099274.3(TINF2):c.841G>A (p.Glu281Lys)
|
rs199422322
|
0.00058
|
NM_004004.6(GJB2):c.167del (p.Leu56fs)
|
rs80338942
|
0.00058
|
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr)
|
rs55808233
|
0.00058
|
NM_144997.7(FLCN):c.871+47G>A
|
rs142934950
|
0.00058
|
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg)
|
rs34778348
|
0.00058
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
NM_001182.5(ALDH7A1):c.34del (p.Ala12fs)
|
rs750693623
|
0.00057
|
NM_004360.5(CDH1):c.2439+10C>T
|
rs35236080
|
0.00057
|
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)
|
rs139260335
|
0.00057
|
NM_022787.4(NMNAT1):c.37G>A (p.Ala13Thr)
|
rs138613460
|
0.00057
|
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly)
|
rs148725540
|
0.00056
|
NM_000038.6(APC):c.4336G>A (p.Ala1446Thr)
|
rs146572883
|
0.00056
|
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp)
|
rs138828590
|
0.00056
|
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile)
|
rs147604227
|
0.00056
|
NM_000057.4(BLM):c.968A>G (p.Lys323Arg)
|
rs146504061
|
0.00056
|
NM_000069.3(CACNA1S):c.5049-2A>G
|
rs148989517
|
0.00056
|
NM_000077.5(CDKN2A):c.150+280C>T
|
rs150201743
|
0.00056
|
NM_000313.4(PROS1):c.76+7A>G
|
rs201928951
|
0.00056
|
NM_002691.4(POLD1):c.1138-8A>G
|
rs41544624
|
0.00056
|
NM_005236.3(ERCC4):c.16C>T (p.Pro6Ser)
|
rs61760160
|
0.00056
|
NM_016953.4(PDE11A):c.1973A>G (p.Tyr658Cys)
|
rs77597060
|
0.00056
|
NM_018451.5(CENPJ):c.2462C>T (p.Thr821Met)
|
rs144938364
|
0.00056
|
NM_020975.6(RET):c.262A>G (p.Ile88Val)
|
rs141679950
|
0.00056
|
NM_020975.6(RET):c.833C>A (p.Thr278Asn)
|
rs35118262
|
0.00056
|
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)
|
rs143319805
|
0.00056
|
NM_206933.4(USH2A):c.12343C>T (p.Arg4115Cys)
|
rs111033275
|
0.00056
|
NM_206933.4(USH2A):c.4758+3A>G
|
rs117798425
|
0.00056
|
NM_000245.4(MET):c.71G>A (p.Gly24Glu)
|
rs180985111
|
0.00055
|
NM_000256.3(MYBPC3):c.13G>C (p.Gly5Arg)
|
rs201278114
|
0.00055
|
NM_000702.4(ATP1A2):c.1474G>A (p.Glu492Lys)
|
rs142348542
|
0.00055
|
NM_001330311.2(DVL1):c.1502G>C (p.Cys501Ser)
|
rs139708222
|
0.00055
|
NM_002907.4(RECQL):c.406G>A (p.Val136Ile)
|
rs138278747
|
0.00055
|
NM_032409.3(PINK1):c.558G>C (p.Lys186Asn)
|
rs143204084
|
0.00055
|
NM_198578.4(LRRK2):c.6566A>G (p.Tyr2189Cys)
|
rs35658131
|
0.00055
|
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg)
|
rs28897712
|
0.00054
|
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn)
|
rs28897716
|
0.00054
|
NM_001366385.1(CARD14):c.1772C>T (p.Thr591Met)
|
rs200102454
|
0.00054
|
NM_002016.2(FLG):c.6109C>T (p.Arg2037Ter)
|
rs200002200
|
0.00054
|
NM_003742.4(ABCB11):c.1772A>G (p.Asn591Ser)
|
rs11568367
|
0.00054
|
NM_014588.6(VSX1):c.766G>T (p.Ala256Ser)
|
rs74315435
|
0.00054
|
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)
|
rs34640941
|
0.00053
|
NM_000053.4(ATP7B):c.1993A>G (p.Met665Val)
|
rs146303208
|
0.00053
|
NM_000059.4(BRCA2):c.7435+6G>A
|
rs81002852
|
0.00053
|
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=)
|
rs63750330
|
0.00053
|
NM_000455.5(STK11):c.426C>T (p.Ser142=)
|
rs758448869
|
0.00053
|
NM_000463.3(UGT1A1):c.1091C>T (p.Pro364Leu)
|
rs34946978
|
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_004817.4(TJP2):c.143T>C (p.Val48Ala)
|
rs121918299
|
0.00053
|
NM_012140.5(SLC25A10):c.763-37G>A
|
rs200706742
|
0.00053
|
NM_031276.3(TEX11):c.466A>G (p.Met156Val)
|
rs143246552
|
0.00053
|
NM_172201.2(KCNE2):c.40G>A (p.Val14Ile)
|
rs142153692
|
0.00053
|
NM_000032.5(ALAS2):c.653G>A (p.Arg218His)
|
rs185504937
|
0.00052
|
NM_006260.5(DNAJC3):c.206A>G (p.Asp69Gly)
|
rs148990795
|
0.00052
|
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=)
|
rs56025670
|
0.00051
|
NM_000136.3(FANCC):c.934A>G (p.Ile312Val)
|
rs1800366
|
0.00051
|
NM_000342.4(SLC4A1):c.2603C>T (p.Pro868Leu)
|
rs121912759
|
0.00051
|
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe)
|
rs200078204
|
0.00051
|
NM_000546.6(TP53):c.783-33T>C
|
rs113302588
|
0.00051
|
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys)
|
rs138089183
|
0.00051
|
NM_002150.3(HPD):c.1005C>G (p.Ile335Met)
|
rs137852868
|
0.00051
|
NM_003361.4(UMOD):c.1406C>T (p.Thr469Met)
|
rs143583842
|
0.00051
|
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_014516.4(CNOT3):c.910G>A (p.Gly304Ser)
|
rs149108037
|
0.00051
|
NM_020975.6(RET):c.405C>T (p.Gly135=)
|
rs142345108
|
0.00051
|
NM_024675.4(PALB2):c.23C>T (p.Pro8Leu)
|
rs150390726
|
0.00051
|
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys)
|
rs200038092
|
0.00051
|
NM_000122.2(ERCC3):c.1828-36C>T
|
rs113416031
|
0.00050
|
NM_000257.4(MYH7):c.2890G>C (p.Val964Leu)
|
rs45496496
|
0.00050
|
NM_001283009.2(RTEL1):c.971G>A (p.Arg324His)
|
rs113684274
|
0.00050
|
NM_001378902.1(ROS1):c.1121G>C (p.Gly374Ala)
|
rs61743088
|
0.00050
|
NM_004752.4(GCM2):c.1181A>C (p.Tyr394Ser)
|
rs142287570
|
0.00050
|
NM_005245.4(FAT1):c.8963A>T (p.Lys2988Ile)
|
rs74986565
|
0.00050
|
NM_006363.6(SEC23B):c.74C>A (p.Pro25His)
|
rs6045440
|
0.00050
|
NM_198578.4(LRRK2):c.4111A>G (p.Ile1371Val)
|
rs17466213
|
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_001142800.2(EYS):c.3250A>C (p.Thr1084Pro)
|
rs778646190
|
0.00049
|
NM_001142800.2(EYS):c.4402G>C (p.Asp1468His)
|
rs778752557
|
0.00049
|
NM_001211.6(BUB1B):c.1649G>A (p.Arg550Gln)
|
rs28989187
|
0.00049
|
NM_001371623.1(TCOF1):c.1552G>A (p.Gly518Arg)
|
rs201537012
|
0.00049
|
NM_005429.5(VEGFC):c.553-15G>T
|
rs370267488
|
0.00049
|
NM_015909.4(NBAS):c.5465A>C (p.Asn1822Thr)
|
rs199717686
|
0.00049
|
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr)
|
rs62645749
|
0.00049
|
NM_206933.4(USH2A):c.11927C>T (p.Thr3976Met)
|
rs142381713
|
0.00049
|
NM_000038.6(APC):c.295C>T (p.Arg99Trp)
|
rs139196838
|
0.00048
|
NM_000059.4(BRCA2):c.631+25C>T
|
rs367871824
|
0.00048
|
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile)
|
rs28897744
|
0.00048
|
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly)
|
rs28897745
|
0.00048
|
NM_000179.3(MSH6):c.2667G>T (p.Gln889His)
|
rs149945495
|
0.00048
|
NM_000363.5(TNNI3):c.235C>T (p.Arg79Cys)
|
rs3729712
|
0.00048
|
NM_000402.4(G6PD):c.632A>T (p.Asp211Val)
|
rs5030872
|
0.00048
|
NM_001009944.3(PKD1):c.4563T>C (p.Gly1521=)
|
rs143843155
|
0.00048
|
NM_001080413.3(NOBOX):c.1112A>C (p.Lys371Thr)
|
rs189306575
|
0.00048
|
NM_001105247.2(ARMC5):c.1371-3C>A
|
rs200655247
|
0.00048
|
NM_001370259.2(MEN1):c.*470A>G
|
rs778272737
|
0.00048
|
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met)
|
rs148176616
|
0.00048
|
NM_005022.4(PFN1):c.350A>G (p.Glu117Gly)
|
rs140547520
|
0.00048
|
NM_006514.4(SCN10A):c.3674T>C (p.Ile1225Thr)
|
rs139638446
|
0.00048
|
NM_022725.4(FANCF):c.241G>T (p.Ala81Ser)
|
rs145057187
|
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_000455.5(STK11):c.1185A>G (p.Thr395=)
|
rs370207155
|
0.00047
|
NM_002485.5(NBN):c.628G>T (p.Val210Phe)
|
rs61754796
|
0.00047
|
NM_006231.4(POLE):c.5659G>A (p.Val1887Met)
|
rs114119067
|
0.00047
|
NM_006514.4(SCN10A):c.4984G>A (p.Gly1662Ser)
|
rs151090729
|
0.00047
|
NM_015909.4(NBAS):c.5467A>T (p.Ile1823Phe)
|
rs201084909
|
0.00047
|
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala)
|
rs201740483
|
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_000085.5(CLCNKB):c.656-31del
|
rs751608665
|
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_000402.4(G6PD):c.1466G>T (p.Arg489Leu)
|
rs72554665
|
0.00046
|
NM_000487.6(ARSA):c.465+1G>A
|
rs80338815
|
0.00046
|
NM_000492.4(CFTR):c.274-6T>C
|
rs371315549
|
0.00046
|
NM_000492.4(CFTR):c.601G>A (p.Val201Met)
|
rs138338446
|
0.00046
|
NM_001130987.2(DYSF):c.5143G>T (p.Ala1715Ser)
|
rs141137410
|
0.00046
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
NM_002025.4(AFF2):c.3088A>C (p.Ile1030Leu)
|
rs149653283
|
0.00046
|
NM_002421.4(MMP1):c.1389G>A (p.Trp463Ter)
|
rs117105447
|
0.00046
|
NM_006218.4(PIK3CA):c.1747-9C>T
|
rs201779641
|
0.00046
|
NM_006231.4(POLE):c.1337G>A (p.Arg446Gln)
|
rs151273553
|
0.00046
|
NM_013275.6(ANKRD11):c.5632T>C (p.Ser1878Pro)
|
rs143743958
|
0.00046
|
NM_017763.6(RNF43):c.575C>T (p.Pro192Leu)
|
rs139557480
|
0.00046
|
NM_025114.4(CEP290):c.4813-2A>G
|
rs369523378
|
0.00046
|
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met)
|
rs199988872
|
0.00046
|
NM_000059.4(BRCA2):c.7976+12G>A
|
rs81002827
|
0.00045
|
NM_000245.4(MET):c.959C>T (p.Ala320Val)
|
rs35776110
|
0.00045
|
NM_000492.4(CFTR):c.509G>A (p.Arg170His)
|
rs1800079
|
0.00045
|
NM_001004127.2(ALG11):c.-23C>T
|
rs201534348
|
0.00045
|
NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met)
|
rs35110529
|
0.00045
|
NM_001048174.2(MUTYH):c.914-9C>T
|
rs3219488
|
0.00045
|
NM_001382430.1(AKT1):c.138C>A (p.Asp46Glu)
|
rs146875699
|
0.00045
|
NM_002016.2(FLG):c.12064A>T (p.Lys4022Ter)
|
rs146466242
|
0.00045
|
NM_002485.5(NBN):c.-26G>A
|
rs201392451
|
0.00045
|
NM_002691.4(POLD1):c.2052G>C (p.Gln684His)
|
rs144143245
|
0.00045
|
NM_002907.4(RECQL):c.1088A>G (p.Asn363Ser)
|
rs138663409
|
0.00045
|
NM_015559.3(SETBP1):c.3962G>A (p.Arg1321His)
|
rs149638556
|
0.00045
|
NM_139281.3(WDR36):c.889G>T (p.Ala297Ser)
|
rs142687756
|
0.00045
|
NM_000051.4(ATM):c.3342G>A (p.Lys1114=)
|
rs138393322
|
0.00044
|
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg)
|
rs28897728
|
0.00044
|
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_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)
|
rs121964857
|
0.00044
|
NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro)
|
rs200901330
|
0.00044
|
NM_004260.4(RECQL4):c.3143A>G (p.Lys1048Arg)
|
rs202203322
|
0.00044
|
NM_024426.6(WT1):c.1063T>C (p.Cys355Arg)
|
rs142059681
|
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_000226.4(KRT9):c.1216T>C (p.Cys406Arg)
|
rs77688767
|
0.00043
|
NM_000251.3(MSH2):c.1680T>C (p.Asn560=)
|
rs200056411
|
0.00043
|
NM_000260.4(MYO7A):c.19G>A (p.Gly7Arg)
|
rs372509310
|
0.00043
|
NM_000492.4(CFTR):c.958T>G (p.Leu320Val)
|
rs144476686
|
0.00043
|
NM_001122659.3(EDNRB):c.-26G>A
|
rs2070591
|
0.00043
|
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp)
|
rs148579886
|
0.00043
|
NM_001846.4(COL4A2):c.4987G>A (p.Gly1663Ser)
|
rs12877501
|
0.00043
|
NM_004655.4(AXIN2):c.733C>T (p.Pro245Ser)
|
rs62640028
|
0.00043
|
NM_014314.4(RIGI):c.2272G>T (p.Glu758Ter)
|
rs553716308
|
0.00043
|
NM_017636.4(TRPM4):c.1744G>A (p.Gly582Ser)
|
rs172149856
|
0.00043
|
NM_000048.4(ASL):c.392C>T (p.Thr131Met)
|
rs143793815
|
0.00042
|
NM_000891.3(KCNJ2):c.1229A>G (p.Asn410Ser)
|
rs141069645
|
0.00042
|
NM_001134407.3(GRIN2A):c.2852G>T (p.Gly951Val)
|
rs139795367
|
0.00042
|
NM_001193313.2(SUGCT):c.478A>C (p.Ile160Leu)
|
rs138102615
|
0.00042
|
NM_006013.5(RPL10):c.628C>T (p.Arg210Trp)
|
rs979369776
|
0.00042
|
NM_017636.4(TRPM4):c.1294G>A (p.Ala432Thr)
|
rs201907325
|
0.00042
|
NM_024417.5(FDXR):c.1252G>A (p.Gly418Ser)
|
rs141101303
|
0.00042
|
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)
|
rs121907998
|
0.00041
|
NM_000245.4(MET):c.103A>T (p.Met35Leu)
|
rs375353223
|
0.00041
|
NM_000249.4(MLH1):c.702G>A (p.Glu234=)
|
rs35908749
|
0.00041
|
NM_000249.4(MLH1):c.884+39G>A
|
rs370283452
|
0.00041
|
NM_000335.5(SCN5A):c.694G>A (p.Val232Ile)
|
rs45471994
|
0.00041
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
NM_000535.7(PMS2):c.936G>A (p.Met312Ile)
|
rs139194813
|
0.00041
|
NM_000545.8(HNF1A):c.965A>G (p.Tyr322Cys)
|
rs140491072
|
0.00041
|
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met)
|
rs144079536
|
0.00041
|
NM_001371279.1(REEP1):c.844G>A (p.Glu282Lys)
|
rs189652973
|
0.00041
|
NM_002878.4(RAD51D):c.932T>A (p.Ile311Asn)
|
rs145309168
|
0.00041
|
NM_004646.4(NPHS1):c.1802G>C (p.Gly601Ala)
|
rs114615449
|
0.00041
|
NM_006231.4(POLE):c.1015G>A (p.Asp339Asn)
|
rs149029910
|
0.00041
|
NM_012295.4(CABIN1):c.1468C>T (p.Arg490Cys)
|
rs201606398
|
0.00041
|
NM_014251.3(SLC25A13):c.2T>C (p.Met1Thr)
|
rs541276426
|
0.00041
|
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His)
|
rs45589637
|
0.00041
|
NM_000038.6(APC):c.2805C>T (p.Tyr935=)
|
rs137854575
|
0.00040
|
NM_000169.3(GLA):c.352C>T (p.Arg118Cys)
|
rs148158093
|
0.00040
|
NM_000249.4(MLH1):c.198C>T (p.Thr66=)
|
rs61751642
|
0.00040
|
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_004628.5(XPC):c.749A>G (p.Asp250Gly)
|
rs201247727
|
0.00040
|
NM_006231.4(POLE):c.2171C>T (p.Ala724Val)
|
rs61734163
|
0.00040
|
NM_007194.4(CHEK2):c.319+3966G>A
|
rs137926355
|
0.00040
|
NM_007294.4(BRCA1):c.4675+55A>G
|
rs934064952
|
0.00040
|
NM_199242.3(UNC13D):c.1228A>C (p.Ile410Leu)
|
rs117221419
|
0.00040
|
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp)
|
rs146379816
|
0.00039
|
NM_000038.6(APC):c.2847G>T (p.Met949Ile)
|
rs147394539
|
0.00039
|
NM_000059.4(BRCA2):c.516+54T>C
|
rs368799999
|
0.00039
|
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg)
|
rs41298442
|
0.00039
|
NM_000169.3(GLA):c.427G>A (p.Ala143Thr)
|
rs104894845
|
0.00039
|
NM_000245.4(MET):c.2715C>T (p.Ser905=)
|
rs45572835
|
0.00039
|
NM_000492.4(CFTR):c.1210-12_1210-11insG
|
rs4148705
|
0.00039
|
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)
|
rs150212784
|
0.00039
|
NM_000551.4(VHL):c.241C>T (p.Pro81Ser)
|
rs104893829
|
0.00039
|
NM_001127222.2(CACNA1A):c.5897G>A (p.Arg1966Gln)
|
rs199886234
|
0.00039
|
NM_001205019.2(GK):c.259+1255G>A
|
rs766772846
|
0.00039
|
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
|
rs13073139
|
0.00039
|
NM_001384140.1(PCDH15):c.2884C>T (p.Arg962Cys)
|
rs201816080
|
0.00039
|
NM_001387430.1(SH2B1):c.1846T>C (p.Ser616Pro)
|
rs142515048
|
0.00039
|
NM_002354.2(EPCAM):c.*362A>G
|
rs539981178
|
0.00039
|
NM_007294.4(BRCA1):c.301+146A>C
|
rs571713225
|
0.00039
|
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr)
|
rs202201763
|
0.00039
|
NM_020975.6(RET):c.1946C>T (p.Ser649Leu)
|
rs148935214
|
0.00039
|
NM_144773.4(PROKR2):c.889G>A (p.Val297Ile)
|
rs139399061
|
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_201548.5(CERKL):c.769C>T (p.Arg257Ter)
|
rs121909398
|
0.00039
|
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys)
|
rs151254520
|
0.00038
|
NM_000038.6(APC):c.5690A>C (p.His1897Pro)
|
rs112610898
|
0.00038
|
NM_000044.6(AR):c.1792A>G (p.Ser598Gly)
|
rs142280455
|
0.00038
|
NM_000051.4(ATM):c.3403-14A>T
|
rs941737393
|
0.00038
|
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg)
|
rs55801750
|
0.00038
|
NM_000077.5(CDKN2A):c.298G>T (p.Ala100Ser)
|
rs200863613
|
0.00038
|
NM_000077.5(CDKN2A):c.457+83C>T
|
rs560686386
|
0.00038
|
NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser)
|
rs56394801
|
0.00038
|
NM_000216.4(ANOS1):c.1187C>T (p.Ser396Leu)
|
rs137852517
|
0.00038
|
NM_000251.3(MSH2):c.1511-41G>C
|
rs202215396
|
0.00038
|
NM_000256.3(MYBPC3):c.3787C>T (p.Arg1263Trp)
|
rs370338674
|
0.00038
|
NM_000492.4(CFTR):c.2620-6T>C
|
rs371315682
|
0.00038
|
NM_000492.4(CFTR):c.3080T>C (p.Ile1027Thr)
|
rs1800112
|
0.00038
|
NM_001015880.2(PAPSS2):c.809G>A (p.Gly270Asp)
|
rs138943074
|
0.00038
|
NM_001379081.2(FREM1):c.4499A>T (p.Glu1500Val)
|
rs281875280
|
0.00038
|
NM_004360.5(CDH1):c.808T>G (p.Ser270Ala)
|
rs587776399
|
0.00038
|
NM_014249.4(NR2E3):c.119-2A>C
|
rs2723341
|
0.00038
|
NM_014915.3(ANKRD26):c.-113A>C
|
rs886046949
|
0.00038
|
NM_022455.5(NSD1):c.4892A>G (p.Lys1631Arg)
|
rs201857437
|
0.00038
|
NM_032444.4(SLX4):c.467C>A (p.Thr156Lys)
|
rs144614070
|
0.00038
|
NM_000179.3(MSH6):c.1932G>C (p.Arg644Ser)
|
rs34938432
|
0.00037
|
NM_000249.4(MLH1):c.977T>C (p.Val326Ala)
|
rs63751049
|
0.00037
|
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser)
|
rs140825795
|
0.00037
|
NM_002907.4(RECQL):c.401C>T (p.Thr134Ile)
|
rs150306543
|
0.00037
|
NM_002907.4(RECQL):c.809G>A (p.Cys270Tyr)
|
rs149763880
|
0.00037
|
NM_003738.5(PTCH2):c.1780G>A (p.Ala594Thr)
|
rs147669300
|
0.00037
|
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val)
|
rs200512504
|
0.00037
|
NM_000038.6(APC):c.6857C>T (p.Ala2286Val)
|
rs200587641
|
0.00036
|
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_000350.3(ABCA4):c.5714+5G>A
|
rs61751407
|
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_002025.4(AFF2):c.2780G>A (p.Arg927His)
|
rs140927355
|
0.00036
|
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met)
|
rs145611185
|
0.00036
|
NM_002734.5(PRKAR1A):c.221G>A (p.Arg74His)
|
rs200069356
|
0.00036
|
NM_004281.3(BAG3):c.772C>T (p.Arg258Trp)
|
rs117671123
|
0.00036
|
NM_004667.6(HERC2):c.11541T>G (p.Phe3847Leu)
|
rs377666529
|
0.00036
|
NM_004850.5(ROCK2):c.1802A>T (p.Asp601Val)
|
rs35768389
|
0.00036
|
NM_005236.3(ERCC4):c.2677A>G (p.Asn893Asp)
|
rs201926295
|
0.00036
|
NM_032444.4(SLX4):c.2654C>T (p.Pro885Leu)
|
rs147492092
|
0.00036
|
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)
|
rs34637584
|
0.00036
|
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)
|
rs56009889
|
0.00035
|
NM_000059.4(BRCA2):c.9924C>T (p.Tyr3308=)
|
rs4987049
|
0.00035
|
NM_000091.5(COL4A3):c.3829G>A (p.Gly1277Ser)
|
rs190598500
|
0.00035
|
NM_000158.4(GBE1):c.2056T>C (p.Tyr686His)
|
rs754607405
|
0.00035
|
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu)
|
rs56127440
|
0.00035
|
NM_000208.4(INSR):c.151G>A (p.Glu51Lys)
|
rs140852238
|
0.00035
|
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys)
|
rs200352299
|
0.00035
|
NM_001048174.2(MUTYH):c.850-2A>G
|
rs77542170
|
0.00035
|
NM_003579.4(RAD54L):c.888C>T (p.Asp296=)
|
rs145556724
|
0.00035
|
NM_006231.4(POLE):c.2602C>T (p.Leu868=)
|
rs115830215
|
0.00035
|
NM_024675.4(PALB2):c.1470C>T (p.Pro490=)
|
rs45612837
|
0.00035
|
NM_032444.4(SLX4):c.5248G>T (p.Ala1750Ser)
|
rs771897046
|
0.00035
|
NM_000038.6(APC):c.607C>G (p.Gln203Glu)
|
rs141576417
|
0.00034
|
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)
|
rs139552233
|
0.00034
|
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile)
|
rs369903995
|
0.00034
|
NM_000059.4(BRCA2):c.322A>C (p.Asn108His)
|
rs80358567
|
0.00034
|
NM_000138.5(FBN1):c.4270C>G (p.Pro1424Ala)
|
rs201273753
|
0.00034
|
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)
|
rs1801175
|
0.00034
|
NM_000243.3(MEFV):c.2292G>T (p.Gly764=)
|
rs142352887
|
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_000492.4(CFTR):c.1327G>T (p.Asp443Tyr)
|
rs147422190
|
0.00034
|
NM_001011658.4(TRAPPC2):c.-97G>A
|
rs746032983
|
0.00034
|
NM_001042492.3(NF1):c.2850+17T>C
|
rs1410636379
|
0.00034
|
NM_001110792.2(MECP2):c.623C>G (p.Thr208Ser)
|
rs61749713
|
0.00034
|
NM_001114753.3(ENG):c.640G>A (p.Gly214Ser)
|
rs150932144
|
0.00034
|
NM_001379270.1(CNGA1):c.1259G>A (p.Arg420Gln)
|
rs192912733
|
0.00034
|
NM_002691.4(POLD1):c.1092G>C (p.Leu364=)
|
rs139883454
|
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_003999.3(OSMR):c.1538G>A (p.Gly513Asp)
|
rs202145435
|
0.00034
|
NM_005228.5(EGFR):c.3629C>T (p.Ala1210Val)
|
rs35918369
|
0.00034
|
NM_005475.3(SH2B3):c.794G>A (p.Arg265Gln)
|
rs149554298
|
0.00034
|
NM_006231.4(POLE):c.1534G>A (p.Ala512Thr)
|
rs113998091
|
0.00034
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu)
|
rs55906931
|
0.00034
|
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=)
|
rs200092283
|
0.00034
|
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala)
|
rs200662973
|
0.00034
|
NM_020975.6(RET):c.1158G>A (p.Ala386=)
|
rs373540097
|
0.00034
|
NM_021870.3(FGG):c.124G>A (p.Gly42Ser)
|
rs202132393
|
0.00034
|
NM_024426.6(WT1):c.662-6C>A
|
rs372418954
|
0.00034
|
NM_032043.3(BRIP1):c.1735C>T (p.Arg579Cys)
|
rs28997571
|
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_000093.5(COL5A1):c.3991G>A (p.Asp1331Asn)
|
rs545973022
|
0.00033
|
NM_000251.3(MSH2):c.2154A>G (p.Gln718=)
|
rs63750810
|
0.00033
|
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)
|
rs75541969
|
0.00033
|
NM_000540.3(RYR1):c.1453A>G (p.Met485Val)
|
rs147723844
|
0.00033
|
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val)
|
rs121912714
|
0.00033
|
NM_001267550.2(TTN):c.45599C>G (p.Ala15200Gly)
|
rs201057307
|
0.00033
|
NM_002485.5(NBN):c.425A>G (p.Asn142Ser)
|
rs769414
|
0.00033
|
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)
|
rs201477273
|
0.00033
|
NM_004817.4(TJP2):c.3371C>T (p.Thr1124Met)
|
rs376663560
|
0.00033
|
NM_006514.4(SCN10A):c.281T>G (p.Val94Gly)
|
rs202143516
|
0.00033
|
NM_032977.4(CASP10):c.1202_1208del (p.Cys401fs)
|
rs747900630
|
0.00033
|
NM_000038.6(APC):c.2232T>G (p.Ser744=)
|
rs145751759
|
0.00032
|
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)
|
rs2229022
|
0.00032
|
NM_000057.4(BLM):c.3041A>G (p.His1014Arg)
|
rs145022945
|
0.00032
|
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro)
|
rs28897701
|
0.00032
|
NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn)
|
rs80359065
|
0.00032
|
NM_000243.3(MEFV):c.926C>T (p.Thr309Met)
|
rs104895155
|
0.00032
|
NM_000314.8(PTEN):c.802-34C>A
|
rs531071483
|
0.00032
|
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu)
|
rs137854861
|
0.00032
|
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile)
|
rs35691292
|
0.00032
|
NM_000554.6(CRX):c.425A>G (p.Tyr142Cys)
|
rs61748442
|
0.00032
|
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys)
|
rs148812376
|
0.00032
|
NM_001042492.3(NF1):c.1933A>G (p.Met645Val)
|
rs146051850
|
0.00032
|
NM_001371928.1(AHDC1):c.4585C>T (p.Arg1529Cys)
|
rs200178921
|
0.00032
|
NM_002772.3(TMPRSS15):c.1428+2T>G
|
rs138221037
|
0.00032
|
NM_003466.4(PAX8):c.215G>A (p.Arg72Gln)
|
rs769138605
|
0.00032
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser)
|
rs80357015
|
0.00032
|
NM_007294.4(BRCA1):c.4186-128A>T
|
rs528390541
|
0.00032
|
NM_014053.4(FLVCR1):c.1092+5G>A
|
rs556788423
|
0.00032
|
NM_000020.3(ACVRL1):c.88C>T (p.Pro30Ser)
|
rs149664056
|
0.00031
|
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His)
|
rs121912682
|
0.00031
|
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu)
|
rs141010008
|
0.00031
|
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser)
|
rs199915459
|
0.00031
|
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr)
|
rs1801256
|
0.00031
|
NM_000251.3(MSH2):c.435T>G (p.Ile145Met)
|
rs63750124
|
0.00031
|
NM_000295.5(SERPINA1):c.1177C>T (p.Pro393Ser)
|
rs61761869
|
0.00031
|
NM_000492.4(CFTR):c.2079T>G (p.Phe693Leu)
|
rs145540754
|
0.00031
|
NM_000548.5(TSC2):c.3430G>A (p.Val1144Met)
|
rs45517294
|
0.00031
|
NM_001048174.2(MUTYH):c.1392+2C>T
|
rs140288388
|
0.00031
|
NM_002529.4(NTRK1):c.482G>A (p.Arg161His)
|
rs150271893
|
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_004656.4(BAP1):c.1962A>C (p.Val654=)
|
rs148624125
|
0.00031
|
NM_005188.4(CBL):c.1287C>T (p.Ile429=)
|
rs148368481
|
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_005912.3(MC4R):c.523G>A (p.Ala175Thr)
|
rs121913563
|
0.00031
|
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys)
|
rs28897687
|
0.00031
|
NM_012452.3(TNFRSF13B):c.204dup (p.Leu69fs)
|
rs72553875
|
0.00031
|
NM_016222.4(DDX41):c.465G>A (p.Met155Ile)
|
rs199697328
|
0.00031
|
NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu)
|
rs139007744
|
0.00031
|
NM_153212.3(GJB4):c.568A>T (p.Met190Leu)
|
rs543341299
|
0.00031
|
NM_207122.2(EXT2):c.260T>G (p.Met87Arg)
|
rs140075817
|
0.00031
|
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)
|
rs34295337
|
0.00030
|
NM_000268.4(NF2):c.886-15C>T
|
rs200837904
|
0.00030
|
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val)
|
rs121913016
|
0.00030
|
NM_000492.4(CFTR):c.2988+1G>A
|
rs75096551
|
0.00030
|
NM_000535.7(PMS2):c.706-3C>T
|
rs1229860023
|
0.00030
|
NM_001110792.2(MECP2):c.1108G>A (p.Ala370Thr)
|
rs147017239
|
0.00030
|
NM_001360.3(DHCR7):c.376G>A (p.Val126Ile)
|
rs143587828
|
0.00030
|
NM_002691.4(POLD1):c.714G>A (p.Thr238=)
|
rs149096523
|
0.00030
|
NM_003072.5(SMARCA4):c.4179G>A (p.Glu1393=)
|
rs201879930
|
0.00030
|
NM_015922.3(NSDHL):c.*129C>T
|
rs145978994
|
0.00030
|
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg)
|
rs141921797
|
0.00029
|
NM_000057.4(BLM):c.43C>T (p.Arg15Cys)
|
rs148545569
|
0.00029
|
NM_000059.4(BRCA2):c.9925G>A (p.Glu3309Lys)
|
rs80359251
|
0.00029
|
NM_000061.3(BTK):c.1252T>C (p.Tyr418His)
|
rs144079566
|
0.00029
|
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala)
|
rs111801777
|
0.00029
|
NM_000249.4(MLH1):c.1897-17C>G
|
rs2308316
|
0.00029
|
NM_000268.4(NF2):c.1340+8G>T
|
rs370604189
|
0.00029
|
NM_000273.3(GPR143):c.371A>G (p.Gln124Arg)
|
rs62635032
|
0.00029
|
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg)
|
rs143335584
|
0.00029
|
NM_000321.3(RB1):c.929G>A (p.Gly310Glu)
|
rs200844292
|
0.00029
|
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg)
|
rs199473183
|
0.00029
|
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu)
|
rs75820036
|
0.00029
|
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)
|
rs144564120
|
0.00029
|
NM_000465.4(BARD1):c.346C>T (p.His116Tyr)
|
rs144856889
|
0.00029
|
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)
|
rs113993959
|
0.00029
|
NM_000527.5(LDLR):c.507C>T (p.Asn169=)
|
rs146354103
|
0.00029
|
NM_000535.7(PMS2):c.572A>G (p.Tyr191Cys)
|
rs375289386
|
0.00029
|
NM_001002294.3(FMO3):c.341A>G (p.Asn114Ser)
|
rs186763441
|
0.00029
|
NM_001042492.3(NF1):c.5906A>T (p.Gln1969Leu)
|
rs143502927
|
0.00029
|
NM_001089.3(ABCA3):c.367G>A (p.Asp123Asn)
|
rs145087575
|
0.00029
|
NM_001211.6(BUB1B):c.2763G>C (p.Gln921His)
|
rs28989183
|
0.00029
|
NM_001283009.2(RTEL1):c.1301C>T (p.Thr434Met)
|
rs77086616
|
0.00029
|
NM_001363711.2(DUOX2):c.2785C>T (p.Arg929Trp)
|
rs200238968
|
0.00029
|
NM_001395413.1(POR):c.1228G>A (p.Gly410Ser)
|
rs567904247
|
0.00029
|
NM_002016.2(FLG):c.3321del (p.Gly1109fs)
|
rs200519781
|
0.00029
|
NM_002691.4(POLD1):c.961G>A (p.Gly321Ser)
|
rs41554817
|
0.00029
|
NM_003051.4(SLC16A1):c.979C>T (p.Pro327Ser)
|
rs77373295
|
0.00029
|
NM_003560.4(PLA2G6):c.956C>T (p.Thr319Met)
|
rs149653983
|
0.00029
|
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His)
|
rs56012641
|
0.00029
|
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys)
|
rs56187033
|
0.00029
|
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)
|
rs119103267
|
0.00029
|
NM_025114.4(CEP290):c.2991+1655A>G
|
rs281865192
|
0.00029
|
NM_000032.5(ALAS2):c.-34C>T
|
rs780642606
|
0.00028
|
NM_000038.6(APC):c.2593C>T (p.Pro865Ser)
|
rs192620988
|
0.00028
|
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys)
|
rs201830995
|
0.00028
|
NM_000138.5(FBN1):c.7072G>A (p.Val2358Ile)
|
rs140537304
|
0.00028
|
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser)
|
rs142254875
|
0.00028
|
NM_000261.2(MYOC):c.1058C>T (p.Thr353Ile)
|
rs137853277
|
0.00028
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_000545.8(HNF1A):c.1541A>G (p.His514Arg)
|
rs202039659
|
0.00028
|
NM_000548.5(TSC2):c.3284+25C>T
|
rs370495938
|
0.00028
|
NM_001375883.1(GPR161):c.-5T>A
|
rs200635937
|
0.00028
|
NM_004341.5(CAD):c.5429G>A (p.Arg1810Gln)
|
rs139332887
|
0.00028
|
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr)
|
rs142822590
|
0.00028
|
NM_022168.4(IFIH1):c.2016del (p.Asp673fs)
|
rs773033563
|
0.00028
|
NM_000136.3(FANCC):c.166-7T>C
|
rs369052148
|
0.00027
|
NM_000455.5(STK11):c.*8C>T
|
rs587782259
|
0.00027
|
NM_000455.5(STK11):c.-137C>T
|
rs527710714
|
0.00027
|
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln)
|
rs56679084
|
0.00027
|
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser)
|
rs104895032
|
0.00027
|
NM_002529.4(NTRK1):c.940C>T (p.Arg314Cys)
|
rs137994522
|
0.00027
|
NM_002691.4(POLD1):c.1795G>A (p.Ala599Thr)
|
rs149569984
|
0.00027
|
NM_003907.3(EIF2B5):c.338G>A (p.Arg113His)
|
rs113994049
|
0.00027
|
NM_032043.3(BRIP1):c.3559G>A (p.Ala1187Thr)
|
rs367610893
|
0.00027
|
NM_152564.5(VPS13B):c.7366G>A (p.Val2456Ile)
|
rs201963516
|
0.00027
|
NM_173495.3(PTCHD1):c.517A>G (p.Ile173Val)
|
rs147324438
|
0.00027
|
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)
|
rs35963548
|
0.00026
|
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=)
|
rs80359788
|
0.00026
|
NM_000059.4(BRCA2):c.516+14C>T
|
rs182828913
|
0.00026
|
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val)
|
rs56272235
|
0.00026
|
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His)
|
rs41293521
|
0.00026
|
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_000260.4(MYO7A):c.3527G>A (p.Ser1176Asn)
|
rs373147966
|
0.00026
|
NM_000312.4(PROC):c.565C>T (p.Arg189Trp)
|
rs146922325
|
0.00026
|
NM_000335.5(SCN5A):c.5870G>A (p.Arg1957Gln)
|
rs199473331
|
0.00026
|
NM_000451.4(SHOX):c.86A>C (p.Lys29Thr)
|
rs146304983
|
0.00026
|
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)
|
rs200513014
|
0.00026
|
NM_000760.4(CSF3R):c.272A>G (p.His91Arg)
|
rs148307285
|
0.00026
|
NM_001367721.1(CASK):c.1186C>T (p.Pro396Ser)
|
rs137852820
|
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_005033.3(EXOSC9):c.41T>C (p.Leu14Pro)
|
rs139632595
|
0.00026
|
NM_005228.5(EGFR):c.2543C>T (p.Pro848Leu)
|
rs148934350
|
0.00026
|
NM_006017.3(PROM1):c.604C>G (p.Arg202Gly)
|
rs140872693
|
0.00026
|
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)
|
rs137853011
|
0.00026
|
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val)
|
rs28897675
|
0.00026
|
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp)
|
rs150624408
|
0.00026
|
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)
|
rs150757822
|
0.00025
|
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)
|
rs201738967
|
0.00025
|
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_000112.4(SLC26A2):c.229A>C (p.Asn77His)
|
rs76784312
|
0.00025
|
NM_000256.3(MYBPC3):c.961G>A (p.Val321Met)
|
rs200119454
|
0.00025
|
NM_000264.5(PTCH1):c.4033C>T (p.Arg1345Cys)
|
rs556901417
|
0.00025
|
NM_000369.5(TSHR):c.100G>A (p.Glu34Lys)
|
rs45499704
|
0.00025
|
NM_000546.6(TP53):c.704A>G (p.Asn235Ser)
|
rs144340710
|
0.00025
|
NM_001018115.3(FANCD2):c.1143C>T (p.Asp381=)
|
rs376349741
|
0.00025
|
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met)
|
rs140731963
|
0.00025
|
NM_002160.4(TNC):c.5317G>A (p.Val1773Met)
|
rs137933052
|
0.00025
|
NM_002485.5(NBN):c.1405G>T (p.Asp469Tyr)
|
rs148205441
|
0.00025
|
NM_004655.4(AXIN2):c.1059+8C>T
|
rs367595502
|
0.00025
|
NM_005228.5(EGFR):c.2024G>A (p.Arg675Gln)
|
rs150423237
|
0.00025
|
NM_005228.5(EGFR):c.2996G>A (p.Arg999His)
|
rs149248025
|
0.00025
|
NM_005448.2(BMP15):c.226C>T (p.Arg76Cys)
|
rs104894766
|
0.00025
|
NM_016146.6(TRAPPC4):c.454+3A>G
|
rs375776811
|
0.00025
|
NM_019109.5(ALG1):c.1036C>A (p.Pro346Thr)
|
rs143676440
|
0.00025
|
NM_170707.4(LMNA):c.1634G>A (p.Arg545His)
|
rs142191737
|
0.00025
|
NM_198578.4(LRRK2):c.7067C>T (p.Thr2356Ile)
|
rs113511708
|
0.00025
|
NM_000044.6(AR):c.528C>A (p.Ser176Arg)
|
rs777131133
|
0.00024
|
NM_000059.4(BRCA2):c.317-22C>T
|
rs81002794
|
0.00024
|
NM_000091.5(COL4A3):c.4510T>C (p.Phe1504Leu)
|
rs201671013
|
0.00024
|
NM_000095.3(COMP):c.700C>T (p.Pro234Ser)
|
rs557483957
|
0.00024
|
NM_000237.3(LPL):c.998G>A (p.Arg333His)
|
rs144466625
|
0.00024
|
NM_000245.4(MET):c.967A>G (p.Ser323Gly)
|
rs201467281
|
0.00024
|
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln)
|
rs148460146
|
0.00024
|
NM_000465.4(BARD1):c.668A>G (p.Glu223Gly)
|
rs145009419
|
0.00024
|
NM_000548.5(TSC2):c.1443+4C>T
|
rs45517172
|
0.00024
|
NM_001018115.3(FANCD2):c.2872G>A (p.Val958Met)
|
rs372574627
|
0.00024
|
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu)
|
rs146136265
|
0.00024
|
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser)
|
rs202037973
|
0.00024
|
NM_003482.4(KMT2D):c.12485G>A (p.Arg4162Gln)
|
rs201078160
|
0.00024
|
NM_006231.4(POLE):c.1021G>T (p.Ala341Ser)
|
rs137860861
|
0.00024
|
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr)
|
rs201115064
|
0.00024
|
NM_006949.4(STXBP2):c.1247-1G>C
|
rs140148806
|
0.00024
|
NM_007294.4(BRCA1):c.3929C>A (p.Thr1310Lys)
|
rs80357257
|
0.00024
|
NM_007294.4(BRCA1):c.4358-10C>T
|
rs80358111
|
0.00024
|
NM_007294.4(BRCA1):c.528G>A (p.Thr176=)
|
rs34545365
|
0.00024
|
NM_012082.4(ZFPM2):c.3086A>T (p.Lys1029Ile)
|
rs201729935
|
0.00024
|
NM_014862.4(ARNT2):c.1000C>T (p.Pro334Ser)
|
rs145079722
|
0.00024
|
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly)
|
rs142053576
|
0.00024
|
NM_020975.6(RET):c.785T>C (p.Val262Ala)
|
rs139790943
|
0.00024
|
NM_025130.4(HKDC1):c.1258C>T (p.His420Tyr)
|
rs201518882
|
0.00024
|
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala)
|
rs28903098
|
0.00024
|
NM_058216.3(RAD51C):c.145+12T>G
|
rs377297129
|
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_000435.3(NOTCH3):c.2932A>C (p.Ser978Arg)
|
rs141956294
|
0.00023
|
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys)
|
rs34591340
|
0.00023
|
NM_002878.4(RAD51D):c.263+1605G>A
|
rs147933658
|
0.00023
|
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys)
|
rs28897676
|
0.00023
|
NM_020975.6(RET):c.874G>A (p.Val292Met)
|
rs34682185
|
0.00023
|
NM_175875.5(SIX5):c.1655C>T (p.Thr552Met)
|
rs80356464
|
0.00023
|
NM_000051.4(ATM):c.2281A>T (p.Thr761Ser)
|
rs2235011
|
0.00022
|
NM_000051.4(ATM):c.6537T>G (p.Ile2179Met)
|
rs146243469
|
0.00022
|
NM_000059.4(BRCA2):c.-197A>C
|
rs370721506
|
0.00022
|
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly)
|
rs68071147
|
0.00022
|
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile)
|
rs28897755
|
0.00022
|
NM_000059.4(BRCA2):c.9502-12T>G
|
rs81002803
|
0.00022
|
NM_000132.4(F8):c.190G>A (p.Val64Met)
|
rs187738612
|
0.00022
|
NM_000157.4(GBA1):c.1224G>A (p.Thr408=)
|
rs138498426
|
0.00022
|
NM_000245.4(MET):c.1076G>A (p.Arg359Gln)
|
rs201274041
|
0.00022
|
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg)
|
rs63750702
|
0.00022
|
NM_000249.4(MLH1):c.307-19A>G
|
rs121909451
|
0.00022
|
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser)
|
rs41295288
|
0.00022
|
NM_000277.3(PAH):c.782G>A (p.Arg261Gln)
|
rs5030849
|
0.00022
|
NM_000350.3(ABCA4):c.3386G>T (p.Arg1129Leu)
|
rs1801269
|
0.00022
|
NM_000352.6(ABCC8):c.3578A>T (p.Asp1193Val)
|
rs139486832
|
0.00022
|
NM_000369.5(TSHR):c.202C>T (p.Pro68Ser)
|
rs142063461
|
0.00022
|
NM_000400.4(ERCC2):c.1905G>A (p.Ala635=)
|
rs145835916
|
0.00022
|
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)
|
rs75527207
|
0.00022
|
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs)
|
rs757653154
|
0.00022
|
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys)
|
rs139438201
|
0.00022
|
NM_004006.3(DMD):c.8138A>G (p.Asn2713Ser)
|
rs758633794
|
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_004960.4(FUS):c.646C>T (p.Arg216Cys)
|
rs267606832
|
0.00022
|
NM_005543.4(INSL3):c.305G>A (p.Arg102His)
|
rs121912556
|
0.00022
|
NM_006017.3(PROM1):c.1780A>C (p.Ile594Leu)
|
rs200507858
|
0.00022
|
NM_007078.3(LDB3):c.1049C>T (p.Thr350Ile)
|
rs200796750
|
0.00022
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
NM_025114.4(CEP290):c.6787A>G (p.Ser2263Gly)
|
rs77778467
|
0.00022
|
NM_198578.4(LRRK2):c.5822G>A (p.Arg1941His)
|
rs77428810
|
0.00022
|
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val)
|
rs200367454
|
0.00022
|
NC_000001.11:g.172658929A>G
|
rs895958192
|
0.00021
|
NC_000017.11:g.58692541G>A
|
rs545213879
|
0.00021
|
NM_000038.6(APC):c.6782C>T (p.Pro2261Leu)
|
rs376494248
|
0.00021
|
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp)
|
rs80358755
|
0.00021
|
NM_000136.3(FANCC):c.456+4A>T
|
rs104886456
|
0.00021
|
NM_000237.3(LPL):c.1342G>A (p.Glu448Lys)
|
rs149089920
|
0.00021
|
NM_000245.4(MET):c.3632+42C>G
|
rs376183825
|
0.00021
|
NM_000256.3(MYBPC3):c.2728C>A (p.Pro910Thr)
|
rs397515985
|
0.00021
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met)
|
rs199473603
|
0.00021
|
NM_000335.5(SCN5A):c.4591G>A (p.Val1531Ile)
|
rs199473618
|
0.00021
|
NM_000465.4(BARD1):c.1347A>G (p.Gln449=)
|
rs373257776
|
0.00021
|
NM_000465.4(BARD1):c.842C>T (p.Pro281Leu)
|
rs367890377
|
0.00021
|
NM_001048174.2(MUTYH):c.848G>A (p.Arg283Lys)
|
rs149342980
|
0.00021
|
NM_001378687.1(ATP2C1):c.2058-17T>C
|
rs117316812
|
0.00021
|
NM_002878.4(RAD51D):c.983C>T (p.Thr328Ile)
|
rs138969595
|
0.00021
|
NM_004006.3(DMD):c.2827C>T (p.Arg943Cys)
|
rs199986217
|
0.00021
|
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys)
|
rs200310662
|
0.00021
|
NM_006231.4(POLE):c.561C>T (p.Tyr187=)
|
rs143938822
|
0.00021
|
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu)
|
rs80357147
|
0.00021
|
NM_007294.4(BRCA1):c.5411T>A (p.Val1804Asp)
|
rs80356920
|
0.00021
|
NM_012275.3(IL36RN):c.115+6T>C
|
rs148755083
|
0.00021
|
NM_012452.3(TNFRSF13B):c.236A>G (p.Tyr79Cys)
|
rs72553876
|
0.00021
|
NM_014225.6(PPP2R1A):c.75T>G (p.Val25=)
|
rs587778622
|
0.00021
|
NM_024426.6(WT1):c.-106C>T
|
rs867975105
|
0.00021
|
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe)
|
rs61756147
|
0.00021
|
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly)
|
rs45594034
|
0.00021
|
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly)
|
rs56403624
|
0.00020
|
NM_000059.4(BRCA2):c.2589T>A (p.Asn863Lys)
|
rs80358521
|
0.00020
|
NM_000059.4(BRCA2):c.5710C>G (p.Leu1904Val)
|
rs55875643
|
0.00020
|
NM_000059.4(BRCA2):c.6803G>A (p.Arg2268Lys)
|
rs80358906
|
0.00020
|
NM_000243.3(MEFV):c.1370C>T (p.Ala457Val)
|
rs104895151
|
0.00020
|
NM_001109878.2(TBX22):c.459-5T>A
|
rs200060292
|
0.00020
|
NM_001369268.1(ACAN):c.913C>T (p.Arg305Cys)
|
rs372895171
|
0.00020
|
NM_001379200.1(TBX1):c.1214C>T (p.Pro405Leu)
|
rs746812421
|
0.00020
|
NM_004260.4(RECQL4):c.2351G>A (p.Arg784Gln)
|
rs536096413
|
0.00020
|
NM_006231.4(POLE):c.1645T>C (p.Ser549Pro)
|
rs115558715
|
0.00020
|
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu)
|
rs534886444
|
0.00020
|
NM_018127.7(ELAC2):c.1924G>A (p.Val642Met)
|
rs149561185
|
0.00020
|
NM_024678.6(NARS2):c.1253G>A (p.Arg418His)
|
rs535877562
|
0.00020
|
NM_206933.4(USH2A):c.10510C>G (p.Pro3504Ala)
|
rs200372118
|
0.00020
|
NM_000051.4(ATM):c.1272T>C (p.Pro424=)
|
rs35578748
|
0.00019
|
NM_000051.4(ATM):c.295A>G (p.Ser99Gly)
|
rs137882485
|
0.00019
|
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)
|
rs145119475
|
0.00019
|
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)
|
rs147187700
|
0.00019
|
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly)
|
rs376676328
|
0.00019
|
NM_000059.4(BRCA2):c.1123C>T (p.Pro375Ser)
|
rs80358408
|
0.00019
|
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn)
|
rs80358782
|
0.00019
|
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
NM_000059.4(BRCA2):c.7805+13A>G
|
rs149769332
|
0.00019
|
NM_000059.4(BRCA2):c.8487+8G>A
|
rs81002838
|
0.00019
|
NM_000059.4(BRCA2):c.9770A>G (p.Lys3257Arg)
|
rs55847618
|
0.00019
|
NM_000077.5(CDKN2A):c.457+1129C>T
|
rs774962789
|
0.00019
|
NM_000132.4(F8):c.1018G>A (p.Glu340Lys)
|
rs781954986
|
0.00019
|
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr)
|
rs143152201
|
0.00019
|
NM_000152.5(GAA):c.2395C>T (p.His799Tyr)
|
rs143347747
|
0.00019
|
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)
|
rs183105855
|
0.00019
|
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly)
|
rs41295278
|
0.00019
|
NM_000179.3(MSH6):c.4001+11_4001+15dup
|
rs587779302
|
0.00019
|
NM_000216.4(ANOS1):c.1678G>A (p.Val560Ile)
|
rs2229013
|
0.00019
|
NM_000237.3(LPL):c.572A>T (p.Tyr191Phe)
|
rs544932321
|
0.00019
|
NM_000251.3(MSH2):c.1255C>A (p.Gln419Lys)
|
rs63750006
|
0.00019
|
NM_000251.3(MSH2):c.138C>G (p.His46Gln)
|
rs33946261
|
0.00019
|
NM_000256.3(MYBPC3):c.2684G>A (p.Arg895His)
|
rs372628478
|
0.00019
|
NM_000256.3(MYBPC3):c.461T>C (p.Ile154Thr)
|
rs373946195
|
0.00019
|
NM_000314.8(PTEN):c.-701G>A
|
rs1554890059
|
0.00019
|
NM_000443.4(ABCB4):c.2784-12T>C
|
rs201498350
|
0.00019
|
NM_000465.4(BARD1):c.308G>A (p.Ser103Asn)
|
rs145629242
|
0.00019
|
NM_000492.4(CFTR):c.3041A>G (p.Tyr1014Cys)
|
rs149279509
|
0.00019
|
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)
|
rs77010898
|
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_001009944.3(PKD1):c.7430G>A (p.Arg2477His)
|
rs556618384
|
0.00019
|
NM_001009944.3(PKD1):c.9740G>A (p.Arg3247His)
|
rs140791671
|
0.00019
|
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln)
|
rs115407852
|
0.00019
|
NM_001165963.4(SCN1A):c.3899C>T (p.Thr1300Ile)
|
rs146878122
|
0.00019
|
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys)
|
rs200945460
|
0.00019
|
NM_002471.4(MYH6):c.824T>A (p.Ile275Asn)
|
rs201327273
|
0.00019
|
NM_002691.4(POLD1):c.2007-5C>T
|
rs199506387
|
0.00019
|
NM_002907.4(RECQL):c.518T>A (p.Val173Asp)
|
rs144313838
|
0.00019
|
NM_005228.5(EGFR):c.1557G>T (p.Glu519Asp)
|
rs116057045
|
0.00019
|
NM_005633.4(SOS1):c.1705C>G (p.Leu569Val)
|
rs200786705
|
0.00019
|
NM_005633.4(SOS1):c.233T>G (p.Phe78Cys)
|
rs201352584
|
0.00019
|
NM_006005.3(WFS1):c.1235T>C (p.Val412Ala)
|
rs144951440
|
0.00019
|
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)
|
rs139366548
|
0.00019
|
NM_007294.4(BRCA1):c.4484+14A>G
|
rs80358022
|
0.00019
|
NM_014467.3(SRPX2):c.449C>T (p.Ser150Phe)
|
rs373847965
|
0.00019
|
NM_020975.6(RET):c.1529C>T (p.Ala510Val)
|
rs201745826
|
0.00019
|
NM_022082.4(SLC17A9):c.25C>T (p.Arg9Cys)
|
rs548728088
|
0.00019
|
NM_024426.6(WT1):c.124G>A (p.Gly42Ser)
|
rs762288656
|
0.00019
|
NM_032043.3(BRIP1):c.380-5A>G
|
rs587782131
|
0.00019
|
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe)
|
rs193030567
|
0.00019
|
NM_153212.3(GJB4):c.292C>T (p.Arg98Cys)
|
rs200602523
|
0.00019
|
NM_000038.6(APC):c.3374T>C (p.Val1125Ala)
|
rs377278397
|
0.00018
|
NM_000038.6(APC):c.4237A>G (p.Met1413Val)
|
rs141519952
|
0.00018
|
NM_000038.6(APC):c.5009C>T (p.Ala1670Val)
|
rs202228932
|
0.00018
|
NM_000038.6(APC):c.6637A>G (p.Met2213Val)
|
rs186926737
|
0.00018
|
NM_000044.6(AR):c.1644G>T (p.Leu548Phe)
|
rs139524801
|
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_000059.4(BRCA2):c.7976+23C>T
|
rs183623188
|
0.00018
|
NM_000132.4(F8):c.396A>C (p.Glu132Asp)
|
rs137852388
|
0.00018
|
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr)
|
rs63749910
|
0.00018
|
NM_000314.4(PTEN):c.-1242G>A
|
rs587779985
|
0.00018
|
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys)
|
rs45553235
|
0.00018
|
NM_000350.3(ABCA4):c.6079C>T (p.Leu2027Phe)
|
rs61751408
|
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_000372.5(TYR):c.242C>T (p.Pro81Leu)
|
rs28940876
|
0.00018
|
NM_000443.4(ABCB4):c.959C>T (p.Ser320Phe)
|
rs72552778
|
0.00018
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_000546.6(TP53):c.1014C>T (p.Phe338=)
|
rs150293825
|
0.00018
|
NM_000546.6(TP53):c.935C>G (p.Thr312Ser)
|
rs145151284
|
0.00018
|
NM_000548.5(TSC2):c.3421G>A (p.Ala1141Thr)
|
rs45505895
|
0.00018
|
NM_001048174.2(MUTYH):c.1102+9A>T
|
rs587780742
|
0.00018
|
NM_001077653.2(TBX20):c.546-8T>A
|
rs191362319
|
0.00018
|
NM_001256071.3(RNF213):c.4865C>T (p.Ala1622Val)
|
rs534665632
|
0.00018
|
NM_001282225.2(ADA2):c.973-2A>G
|
rs139750129
|
0.00018
|
NM_001378743.1(CYLD):c.514C>T (p.Arg172Cys)
|
rs201836260
|
0.00018
|
NM_002878.4(RAD51D):c.39C>G (p.Thr13=)
|
rs146448657
|
0.00018
|
NM_002878.4(RAD51D):c.904-3C>T
|
rs45478491
|
0.00018
|
NM_002905.5(RDH5):c.712G>T (p.Gly238Trp)
|
rs62638191
|
0.00018
|
NM_004304.5(ALK):c.4407G>A (p.Pro1469=)
|
rs372471601
|
0.00018
|
NM_005236.3(ERCC4):c.1606G>C (p.Val536Leu)
|
rs143347563
|
0.00018
|
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys)
|
rs147834269
|
0.00018
|
NM_006231.4(POLE):c.1597G>A (p.Val533Met)
|
rs374140892
|
0.00018
|
NM_006231.4(POLE):c.6751T>C (p.Phe2251Leu)
|
rs373768478
|
0.00018
|
NM_007294.4(BRCA1):c.5406+33A>T
|
rs80358092
|
0.00018
|
NM_017541.4(CRYGS):c.77A>G (p.Asp26Gly)
|
rs143507827
|
0.00018
|
NM_020975.6(RET):c.1531G>A (p.Glu511Lys)
|
rs201553718
|
0.00018
|
NM_033380.3(COL4A5):c.3374-11C>A
|
rs104886387
|
0.00018
|
NM_198253.3(TERT):c.838G>A (p.Glu280Lys)
|
rs199701877
|
0.00018
|
NC_000012.12:g.57752476A>G
|
rs865902881
|
0.00017
|
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys)
|
rs201004111
|
0.00017
|
NM_000038.6(APC):c.7193C>T (p.Ser2398Phe)
|
rs150882838
|
0.00017
|
NM_000044.6(AR):c.208C>T (p.Gln70Ter)
|
rs1281274698
|
0.00017
|
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys)
|
rs138398778
|
0.00017
|
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser)
|
rs370559102
|
0.00017
|
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)
|
rs200389141
|
0.00017
|
NM_000132.4(F8):c.2887G>A (p.Asp963Asn)
|
rs199660138
|
0.00017
|
NM_000132.4(F8):c.3836G>A (p.Arg1279Lys)
|
rs139451429
|
0.00017
|
NM_000256.3(MYBPC3):c.624G>C (p.Gln208His)
|
rs202139499
|
0.00017
|
NM_000335.5(SCN5A):c.80G>A (p.Arg27His)
|
rs199473045
|
0.00017
|
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)
|
rs61751392
|
0.00017
|
NM_000477.7(ALB):c.1669G>A (p.Val557Met)
|
rs78284052
|
0.00017
|
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)
|
rs587780046
|
0.00017
|
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val)
|
rs201712827
|
0.00017
|
NM_001291303.3(FAT4):c.3212T>C (p.Val1071Ala)
|
rs200138872
|
0.00017
|
NM_005431.2(XRCC2):c.613T>G (p.Ser205Ala)
|
rs56103026
|
0.00017
|
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys)
|
rs28897686
|
0.00017
|
NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile)
|
rs28897690
|
0.00017
|
NM_020937.4(FANCM):c.5848T>G (p.Leu1950Val)
|
rs146436929
|
0.00017
|
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val)
|
rs141458731
|
0.00017
|
NM_032043.3(BRIP1):c.854A>G (p.His285Arg)
|
rs141055990
|
0.00017
|
NM_000038.6(APC):c.6510A>C (p.Pro2170=)
|
rs138571760
|
0.00016
|
NM_000038.6(APC):c.7625A>G (p.Asn2542Ser)
|
rs151163793
|
0.00016
|
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)
|
rs201199629
|
0.00016
|
NM_000077.5(CDKN2A):c.384G>A (p.Arg128=)
|
rs199901898
|
0.00016
|
NM_000124.4(ERCC6):c.4063-5T>C
|
rs186482480
|
0.00016
|
NM_000135.4(FANCA):c.3348+7G>T
|
rs185527578
|
0.00016
|
NM_000157.4(GBA1):c.222_224del (p.Thr75del)
|
rs761621516
|
0.00016
|
NM_000157.4(GBA1):c.882T>G (p.His294Gln)
|
rs367968666
|
0.00016
|
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe)
|
rs267608075
|
0.00016
|
NM_000245.4(MET):c.4087G>A (p.Ala1363Thr)
|
rs45578433
|
0.00016
|
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys)
|
rs63750114
|
0.00016
|
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala)
|
rs41295280
|
0.00016
|
NM_000256.3(MYBPC3):c.1321G>A (p.Glu441Lys)
|
rs193922377
|
0.00016
|
NM_000261.2(MYOC):c.34G>C (p.Gly12Arg)
|
rs199752860
|
0.00016
|
NM_000268.4(NF2):c.613A>G (p.Met205Val)
|
rs141629512
|
0.00016
|
NM_000321.3(RB1):c.113G>A (p.Gly38Asp)
|
rs766529534
|
0.00016
|
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys)
|
rs137852313
|
0.00016
|
NM_000455.5(STK11):c.-461G>A
|
rs552610464
|
0.00016
|
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr)
|
rs139468767
|
0.00016
|
NM_000492.4(CFTR):c.3909C>G (p.Asn1303Lys)
|
rs80034486
|
0.00016
|
NM_000492.4(CFTR):c.489+3A>G
|
rs377729736
|
0.00016
|
NM_000527.5(LDLR):c.1816G>T (p.Ala606Ser)
|
rs72658865
|
0.00016
|
NM_000535.7(PMS2):c.2437C>T (p.Arg813Trp)
|
rs375968016
|
0.00016
|
NM_000535.7(PMS2):c.53T>C (p.Ile18Thr)
|
rs201343342
|
0.00016
|
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly)
|
rs200950673
|
0.00016
|
NM_000545.8(HNF1A):c.716C>T (p.Ala239Val)
|
rs587778397
|
0.00016
|
NM_001009944.3(PKD1):c.4759C>T (p.Arg1587Cys)
|
rs773407492
|
0.00016
|
NM_001018115.3(FANCD2):c.1118C>T (p.Ser373Leu)
|
rs372534421
|
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_001165963.4(SCN1A):c.5870A>G (p.Glu1957Gly)
|
rs121918802
|
0.00016
|
NM_001242896.3(DEPDC5):c.3311C>T (p.Ser1104Leu)
|
rs79027628
|
0.00016
|
NM_001370259.2(MEN1):c.1080C>T (p.Ile360=)
|
rs147331514
|
0.00016
|
NM_001382430.1(AKT1):c.288-3C>T
|
rs61761189
|
0.00016
|
NM_001429.4(EP300):c.4026G>A (p.Arg1342=)
|
rs146119145
|
0.00016
|
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)
|
rs145226920
|
0.00016
|
NM_002691.4(POLD1):c.2337G>A (p.Ala779=)
|
rs147108748
|
0.00016
|
NM_002691.4(POLD1):c.353C>T (p.Ser118Phe)
|
rs780604625
|
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_004183.4(BEST1):c.584C>T (p.Ala195Val)
|
rs200277476
|
0.00016
|
NM_004727.3(SLC24A1):c.754_755del (p.Met252fs)
|
rs777989874
|
0.00016
|
NM_004933.3(CDH15):c.22G>C (p.Val8Leu)
|
rs567903921
|
0.00016
|
NM_005431.2(XRCC2):c.283A>G (p.Ile95Val)
|
rs140214637
|
0.00016
|
NM_006231.4(POLE):c.154C>T (p.Arg52Trp)
|
rs115452881
|
0.00016
|
NM_006231.4(POLE):c.3245G>A (p.Arg1082His)
|
rs201744227
|
0.00016
|
NM_006231.4(POLE):c.3862G>A (p.Ala1288Thr)
|
rs200398117
|
0.00016
|
NM_006883.2(SHOX):c.-432-3C>A
|
rs1030279647
|
0.00016
|
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys)
|
rs121908702
|
0.00016
|
NM_014112.5(TRPS1):c.2441G>T (p.Arg814Leu)
|
rs146506752
|
0.00016
|
NM_018124.4(RFWD3):c.1340C>G (p.Ala447Gly)
|
rs370961000
|
0.00016
|
NM_020812.4(DOCK6):c.4469G>A (p.Arg1490Gln)
|
rs200472954
|
0.00016
|
NM_021728.4(OTX2):c.425C>G (p.Pro142Arg)
|
rs199761861
|
0.00016
|
NM_022042.4(SLC26A1):c.61C>T (p.Arg21Cys)
|
rs376882525
|
0.00016
|
NM_022455.5(NSD1):c.7576C>T (p.Pro2526Ser)
|
rs373932824
|
0.00016
|
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys)
|
rs201869624
|
0.00016
|
NM_057176.3(BSND):c.139G>A (p.Gly47Arg)
|
rs74315289
|
0.00016
|
NM_177438.3(DICER1):c.3553G>A (p.Ala1185Thr)
|
rs150514959
|
0.00016
|
NM_201548.5(CERKL):c.1160-10T>G
|
rs771126203
|
0.00016
|
NM_213720.3(CHCHD10):c.239C>T (p.Pro80Leu)
|
rs775332895
|
0.00016
|
NM_000038.6(APC):c.1606G>A (p.Glu536Lys)
|
rs138098808
|
0.00015
|
NM_000038.6(APC):c.6985A>G (p.Ile2329Val)
|
rs146048493
|
0.00015
|
NM_000051.4(ATM):c.8156G>A (p.Arg2719His)
|
rs55982963
|
0.00015
|
NM_000057.4(BLM):c.274A>G (p.Asn92Asp)
|
rs200690226
|
0.00015
|
NM_000204.5(CFI):c.608C>T (p.Thr203Ile)
|
rs138346388
|
0.00015
|
NM_000245.4(MET):c.1771C>T (p.Arg591Trp)
|
rs45602940
|
0.00015
|
NM_000245.4(MET):c.40C>T (p.Leu14Phe)
|
rs763344951
|
0.00015
|
NM_000249.4(MLH1):c.1820T>A (p.Leu607His)
|
rs41295284
|
0.00015
|
NM_000312.4(PROC):c.703A>C (p.Lys235Gln)
|
rs370086431
|
0.00015
|
NM_000397.4(CYBB):c.483+978G>A
|
rs1031189017
|
0.00015
|
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys)
|
rs139444207
|
0.00015
|
NM_000492.4(CFTR):c.1046C>T (p.Ala349Val)
|
rs121909021
|
0.00015
|
NM_000494.4(COL17A1):c.3908G>A (p.Arg1303Gln)
|
rs121912771
|
0.00015
|
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn)
|
rs45509392
|
0.00015
|
NM_000719.7(CACNA1C):c.6040G>A (p.Val2014Ile)
|
rs199473660
|
0.00015
|
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile)
|
rs201047812
|
0.00015
|
NM_001079668.3(NKX2-1):c.78-151A>G
|
rs1003307358
|
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_002471.4(MYH6):c.3195G>C (p.Gln1065His)
|
rs267606904
|
0.00015
|
NM_002485.5(NBN):c.38-10T>A
|
rs556807466
|
0.00015
|
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs)
|
rs782339984
|
0.00015
|
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn)
|
rs372989292
|
0.00015
|
NM_006662.3(SRCAP):c.8500G>A (p.Gly2834Arg)
|
rs146421389
|
0.00015
|
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)
|
rs141568342
|
0.00015
|
NM_014795.4(ZEB2):c.10C>G (p.Pro4Ala)
|
rs146394306
|
0.00015
|
NM_031276.3(TEX11):c.2243T>C (p.Val748Ala)
|
rs200139216
|
0.00015
|
NM_032444.4(SLX4):c.5249C>T (p.Ala1750Val)
|
rs745421287
|
0.00015
|
NM_133433.4(NIPBL):c.6478G>T (p.Asp2160Tyr)
|
rs147054690
|
0.00015
|
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln)
|
rs398123084
|
0.00014
|
NM_000020.3(ACVRL1):c.652C>T (p.Arg218Trp)
|
rs199874575
|
0.00014
|
NM_000038.6(APC):c.6609T>C (p.Val2203=)
|
rs149328018
|
0.00014
|
NM_000051.4(ATM):c.2927T>C (p.Val976Ala)
|
rs146145357
|
0.00014
|
NM_000051.4(ATM):c.3077+4G>A
|
rs201222237
|
0.00014
|
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met)
|
rs80358656
|
0.00014
|
NM_000059.4(BRCA2):c.502C>A (p.Pro168Thr)
|
rs80358726
|
0.00014
|
NM_000059.4(BRCA2):c.742G>A (p.Ala248Thr)
|
rs55854959
|
0.00014
|
NM_000132.4(F8):c.3169G>A (p.Glu1057Lys)
|
rs28933673
|
0.00014
|
NM_000159.4(GCDH):c.1198G>A (p.Val400Met)
|
rs121434372
|
0.00014
|
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu)
|
rs61748083
|
0.00014
|
NM_000179.3(MSH6):c.884A>G (p.Lys295Arg)
|
rs267608051
|
0.00014
|
NM_000249.4(MLH1):c.803A>G (p.Glu268Gly)
|
rs63750650
|
0.00014
|
NM_000321.3(RB1):c.1156A>G (p.Met386Val)
|
rs564780653
|
0.00014
|
NM_000455.5(STK11):c.920+12C>T
|
rs186518799
|
0.00014
|
NM_000465.4(BARD1):c.1203T>C (p.Ser401=)
|
rs370553043
|
0.00014
|
NM_001009944.3(PKD1):c.8041C>T (p.Arg2681Cys)
|
rs540634317
|
0.00014
|
NM_001083116.3(PRF1):c.1262T>G (p.Phe421Cys)
|
rs200534908
|
0.00014
|
NM_001360016.2(G6PD):c.1360C>T (p.Arg454Cys)
|
rs398123546
|
0.00014
|
NM_002336.3(LRP6):c.246A>T (p.Lys82Asn)
|
rs199693693
|
0.00014
|
NM_002485.5(NBN):c.266G>C (p.Arg89Pro)
|
rs747315554
|
0.00014
|
NM_002529.4(NTRK1):c.584C>T (p.Thr195Met)
|
rs552776147
|
0.00014
|
NM_002693.3(POLG):c.3436C>T (p.Arg1146Cys)
|
rs2307440
|
0.00014
|
NM_002907.4(RECQL):c.1465A>G (p.Ile489Val)
|
rs146077019
|
0.00014
|
NM_003041.4(SLC5A2):c.885+5G>A
|
rs200228142
|
0.00014
|
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr)
|
rs201004645
|
0.00014
|
NM_004667.6(HERC2):c.4126C>T (p.Arg1376Ter)
|
rs575492335
|
0.00014
|
NM_005257.6(GATA6):c.551G>A (p.Ser184Asn)
|
rs387906816
|
0.00014
|
NM_007194.4(CHEK2):c.-4C>T
|
rs374938148
|
0.00014
|
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn)
|
rs143965148
|
0.00014
|
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser)
|
rs587780179
|
0.00014
|
NM_007198.4(PLPBP):c.704T>G (p.Val235Gly)
|
rs367850837
|
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_014215.3(INSRR):c.3761T>C (p.Phe1254Ser)
|
rs146201749
|
0.00014
|
NM_016169.4(SUFU):c.1296+1638C>T
|
rs368920108
|
0.00014
|
NM_018062.4(FANCL):c.1021-6T>C
|
rs377052216
|
0.00014
|
NM_020297.4(ABCC9):c.1987C>T (p.Arg663Cys)
|
rs200349671
|
0.00014
|
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)
|
rs34647222
|
0.00014
|
NM_020800.3(IFT80):c.869A>G (p.Asn290Ser)
|
rs138081429
|
0.00014
|
NM_020975.6(RET):c.1063+9G>A
|
rs765463636
|
0.00014
|
NM_022788.5(P2RY12):c.365G>A (p.Arg122His)
|
rs778790805
|
0.00014
|
NM_032043.3(BRIP1):c.-30-3T>C
|
rs370728413
|
0.00014
|
NM_058216.3(RAD51C):c.784T>G (p.Leu262Val)
|
rs149331537
|
0.00014
|
NM_152683.4(PRIMPOL):c.265T>G (p.Tyr89Asp)
|
rs200857997
|
0.00014
|
NM_170784.3(MKKS):c.1553G>A (p.Arg518His)
|
rs149051148
|
0.00014
|
NM_000051.4(ATM):c.131A>G (p.Asp44Gly)
|
rs150143957
|
0.00013
|
NM_000051.4(ATM):c.2606C>G (p.Ala869Gly)
|
rs145513717
|
0.00013
|
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys)
|
rs201958469
|
0.00013
|
NM_000051.4(ATM):c.8671+9T>G
|
rs200190537
|
0.00013
|
NM_000059.4(BRCA2):c.2274T>G (p.Ser758Arg)
|
rs142243359
|
0.00013
|
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_000088.4(COL1A1):c.1583G>A (p.Arg528His)
|
rs144751329
|
0.00013
|
NM_000169.3(GLA):c.1088G>A (p.Arg363His)
|
rs111422676
|
0.00013
|
NM_000179.3(MSH6):c.650A>G (p.Asp217Gly)
|
rs554012110
|
0.00013
|
NM_000244.4(MEN1):c.-47A>G
|
rs1035192873
|
0.00013
|
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)
|
rs61752877
|
0.00013
|
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)
|
rs121908752
|
0.00013
|
NM_000535.7(PMS2):c.255G>A (p.Leu85=)
|
rs200491279
|
0.00013
|
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu)
|
rs374704824
|
0.00013
|
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met)
|
rs121908102
|
0.00013
|
NM_001048174.2(MUTYH):c.849+3A>C
|
rs587780751
|
0.00013
|
NM_001098816.3(TENM4):c.3053G>A (p.Arg1018His)
|
rs748691958
|
0.00013
|
NM_001126128.2(PROK2):c.163del (p.Ser54_Ile55insTer)
|
rs554675432
|
0.00013
|
NM_001127511.3(APC):c.119G>C (p.Ser40Thr)
|
rs587778028
|
0.00013
|
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter)
|
rs780163791
|
0.00013
|
NM_001366110.1(PAX4):c.385C>T (p.Arg129Trp)
|
rs114202595
|
0.00013
|
NM_002529.4(NTRK1):c.1661G>A (p.Arg554Gln)
|
rs764417252
|
0.00013
|
NM_002529.4(NTRK1):c.570C>G (p.Ser190Arg)
|
rs138608619
|
0.00013
|
NM_002907.4(RECQL):c.468T>G (p.Ile156Met)
|
rs777214281
|
0.00013
|
NM_002907.4(RECQL):c.86C>T (p.Thr29Met)
|
rs145067169
|
0.00013
|
NM_004006.3(DMD):c.821A>G (p.Tyr274Cys)
|
rs745868830
|
0.00013
|
NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser)
|
rs200911775
|
0.00013
|
NM_004380.3(CREBBP):c.5776C>G (p.Arg1926Gly)
|
rs778915687
|
0.00013
|
NM_005431.2(XRCC2):c.620A>G (p.Glu207Gly)
|
rs61762969
|
0.00013
|
NM_005548.3(KARS1):c.599C>T (p.Pro200Leu)
|
rs201650281
|
0.00013
|
NM_005765.3(ATP6AP2):c.217C>T (p.Arg73Trp)
|
rs749401561
|
0.00013
|
NM_006080.3(SEMA3A):c.2062A>G (p.Thr688Ala)
|
rs318240751
|
0.00013
|
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp)
|
rs199708878
|
0.00013
|
NM_007294.4(BRCA1):c.3691T>C (p.Phe1231Leu)
|
rs41293451
|
0.00013
|
NM_013447.4(ADGRE2):c.364G>A (p.Glu122Lys)
|
rs200783500
|
0.00013
|
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)
|
rs144972972
|
0.00013
|
NM_018941.4(CLN8):c.200C>T (p.Ala67Val)
|
rs373957283
|
0.00013
|
NM_020937.4(FANCM):c.5440G>A (p.Glu1814Lys)
|
rs139074680
|
0.00013
|
NM_021728.4(OTX2):c.641C>A (p.Thr214Asn)
|
rs150982073
|
0.00013
|
NM_024675.4(PALB2):c.232G>A (p.Val78Ile)
|
rs515726085
|
0.00013
|
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln)
|
rs146377793
|
0.00013
|
NM_033163.5(FGF8):c.686C>T (p.Thr229Met)
|
rs137852664
|
0.00013
|
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)
|
rs62645748
|
0.00013
|
NM_000038.6(APC):c.1631T>C (p.Ile544Thr)
|
rs144056494
|
0.00012
|
NM_000038.6(APC):c.2204C>T (p.Ala735Val)
|
rs147655929
|
0.00012
|
NM_000038.6(APC):c.450A>G (p.Lys150=)
|
rs116020626
|
0.00012
|
NM_000038.6(APC):c.5392A>G (p.Asn1798Asp)
|
rs200794097
|
0.00012
|
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu)
|
rs587780600
|
0.00012
|
NM_000038.6(APC):c.6873A>T (p.Gln2291His)
|
rs148878262
|
0.00012
|
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val)
|
rs55638633
|
0.00012
|
NM_000138.5(FBN1):c.185G>A (p.Arg62His)
|
rs145942328
|
0.00012
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
NM_000249.4(MLH1):c.1050A>G (p.Pro350=)
|
rs137937003
|
0.00012
|
NM_000402.4(G6PD):c.1478G>A (p.Arg493His)
|
rs72554664
|
0.00012
|
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)
|
rs74597325
|
0.00012
|
NM_000521.4(HEXB):c.1627G>A (p.Ala543Thr)
|
rs121907984
|
0.00012
|
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser)
|
rs368838866
|
0.00012
|
NM_000535.7(PMS2):c.2445G>A (p.Ser815=)
|
rs753199796
|
0.00012
|
NM_001103.4(ACTN2):c.1748A>G (p.Glu583Gly)
|
rs200631005
|
0.00012
|
NM_001109878.2(TBX22):c.780G>A (p.Thr260=)
|
rs373817537
|
0.00012
|
NM_001283009.2(RTEL1):c.2651C>T (p.Pro884Leu)
|
rs199698251
|
0.00012
|
NM_001289.6(CLIC2):c.303C>G (p.His101Gln)
|
rs398122917
|
0.00012
|
NM_001317778.2(SFTPC):c.445G>C (p.Ala149Pro)
|
rs202145169
|
0.00012
|
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser)
|
rs745404679
|
0.00012
|
NM_001370658.1(BTD):c.38G>T (p.Cys13Phe)
|
rs141131444
|
0.00012
|
NM_001370658.1(BTD):c.40_41del (p.Gly14fs)
|
rs765906887
|
0.00012
|
NM_002025.4(AFF2):c.1834C>G (p.His612Asp)
|
rs376847375
|
0.00012
|
NM_002872.5(RAC2):c.545C>T (p.Thr182Met)
|
rs141308774
|
0.00012
|
NM_003955.5(SOCS3):c.408C>A (p.Phe136Leu)
|
rs17849241
|
0.00012
|
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val)
|
rs150321966
|
0.00012
|
NM_004656.4(BAP1):c.1408G>A (p.Gly470Arg)
|
rs576538858
|
0.00012
|
NM_005228.5(EGFR):c.2800C>T (p.Pro934Ser)
|
rs575565383
|
0.00012
|
NM_005236.3(ERCC4):c.2647G>A (p.Glu883Lys)
|
rs201652412
|
0.00012
|
NM_006231.4(POLE):c.6674G>A (p.Arg2225His)
|
rs538875477
|
0.00012
|
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln)
|
rs368570187
|
0.00012
|
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala)
|
rs80357467
|
0.00012
|
NM_017563.5(IL17RD):c.572C>T (p.Pro191Leu)
|
rs200088377
|
0.00012
|
NM_020937.4(FANCM):c.5832G>T (p.Leu1944Phe)
|
rs201017015
|
0.00012
|
NM_174936.4(PCSK9):c.1069C>T (p.Arg357Cys)
|
rs148562777
|
0.00012
|
NM_000038.6(APC):c.-43A>C
|
rs879254014
|
0.00011
|
NM_000044.6(AR):c.1301C>T (p.Ser434Phe)
|
rs748457992
|
0.00011
|
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu)
|
rs3092907
|
0.00011
|
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu)
|
rs201963507
|
0.00011
|
NM_000051.4(ATM):c.6343G>A (p.Val2115Ile)
|
rs587780634
|
0.00011
|
NM_000051.4(ATM):c.8071C>T (p.Arg2691Cys)
|
rs531980488
|
0.00011
|
NM_000057.4(BLM):c.1315A>G (p.Met439Val)
|
rs201231857
|
0.00011
|
NM_000059.4(BRCA2):c.1272A>G (p.Ser424=)
|
rs587780531
|
0.00011
|
NM_000059.4(BRCA2):c.9501+9A>C
|
rs81002867
|
0.00011
|
NM_000132.4(F8):c.6951C>G (p.Asp2317Glu)
|
rs782799573
|
0.00011
|
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys)
|
rs143181565
|
0.00011
|
NM_000159.4(GCDH):c.877G>A (p.Ala293Thr)
|
rs121434371
|
0.00011
|
NM_000179.3(MSH6):c.124C>T (p.Pro42Ser)
|
rs34014629
|
0.00011
|
NM_000179.3(MSH6):c.628-7C>A
|
rs373129248
|
0.00011
|
NM_000243.3(MEFV):c.800C>T (p.Thr267Ile)
|
rs104895081
|
0.00011
|
NM_000249.4(MLH1):c.626A>G (p.Asn209Ser)
|
rs150478207
|
0.00011
|
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys)
|
rs17217723
|
0.00011
|
NM_000251.3(MSH2):c.1790A>C (p.Asp597Ala)
|
rs548407418
|
0.00011
|
NM_000251.3(MSH2):c.2203A>G (p.Ile735Val)
|
rs2229061
|
0.00011
|
NM_000251.3(MSH2):c.2785C>T (p.Arg929Ter)
|
rs551060742
|
0.00011
|
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr)
|
rs147715336
|
0.00011
|
NM_000268.4(NF2):c.999+15G>A
|
rs367716680
|
0.00011
|
NM_000292.3(PHKA2):c.1493C>T (p.Pro498Leu)
|
rs199792389
|
0.00011
|
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr)
|
rs202004587
|
0.00011
|
NM_000321.3(RB1):c.59C>T (p.Pro20Leu)
|
rs587778637
|
0.00011
|
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln)
|
rs61752873
|
0.00011
|
NM_000335.5(SCN5A):c.1019G>A (p.Arg340Gln)
|
rs191009474
|
0.00011
|
NM_000335.5(SCN5A):c.1333C>G (p.His445Asp)
|
rs199473112
|
0.00011
|
NM_000404.4(GLB1):c.1783C>T (p.Arg595Trp)
|
rs201807974
|
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_000455.5(STK11):c.1038C>T (p.Gly346=)
|
rs767565606
|
0.00011
|
NM_000455.5(STK11):c.825G>A (p.Pro275=)
|
rs202011521
|
0.00011
|
NM_000465.4(BARD1):c.1835A>T (p.Asp612Val)
|
rs201140528
|
0.00011
|
NM_000492.3(CFTR):c.3718-2477C>T
|
rs75039782
|
0.00011
|
NM_000492.4(CFTR):c.1163C>T (p.Thr388Met)
|
rs143860237
|
0.00011
|
NM_000492.4(CFTR):c.489+1G>T
|
rs78756941
|
0.00011
|
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)
|
rs191456345
|
0.00011
|
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr)
|
rs201504674
|
0.00011
|
NM_000515.5(GH1):c.124C>T (p.Arg42Cys)
|
rs71640273
|
0.00011
|
NM_000535.7(PMS2):c.1555T>C (p.Tyr519His)
|
rs370236216
|
0.00011
|
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)
|
rs116788608
|
0.00011
|
NM_000540.3(RYR1):c.14524G>A (p.Val4842Met)
|
rs193922879
|
0.00011
|
NM_000704.3(ATP4A):c.2107C>T (p.Arg703Cys)
|
rs776225963
|
0.00011
|
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro)
|
rs144601090
|
0.00011
|
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val)
|
rs35352891
|
0.00011
|
NM_001079866.2(BCS1L):c.205C>T (p.Arg69Cys)
|
rs377025174
|
0.00011
|
NM_001099857.5(IKBKG):c.185G>A (p.Arg62Gln)
|
rs782604431
|
0.00011
|
NM_001371904.1(APOA5):c.551C>G (p.Thr184Ser)
|
rs201229911
|
0.00011
|
NM_001429.4(EP300):c.2351C>T (p.Pro784Leu)
|
rs201480900
|
0.00011
|
NM_001918.5(DBT):c.827T>G (p.Phe276Cys)
|
rs121964999
|
0.00011
|
NM_001943.5(DSG2):c.1478A>G (p.Asn493Ser)
|
rs375679311
|
0.00011
|
NM_002474.3(MYH11):c.4861A>C (p.Lys1621Gln)
|
rs34321232
|
0.00011
|
NM_002529.4(NTRK1):c.1808C>G (p.Ser603Cys)
|
rs188270548
|
0.00011
|
NM_002691.4(POLD1):c.432C>T (p.Phe144=)
|
rs550836711
|
0.00011
|
NM_002691.4(POLD1):c.521G>A (p.Arg174Gln)
|
rs141976385
|
0.00011
|
NM_003937.3(KYNU):c.773T>C (p.Val258Ala)
|
rs376794557
|
0.00011
|
NM_004211.5(SLC6A5):c.823G>A (p.Ala275Thr)
|
rs748625983
|
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_004431.5(EPHA2):c.1046C>T (p.Thr349Met)
|
rs200490325
|
0.00011
|
NM_004700.4(KCNQ4):c.546C>G (p.Phe182Leu)
|
rs80358273
|
0.00011
|
NM_005154.5(USP8):c.3334C>T (p.Arg1112Ter)
|
rs142928952
|
0.00011
|
NM_006186.4(NR4A2):c.289A>G (p.Met97Val)
|
rs143618355
|
0.00011
|
NM_006218.4(PIK3CA):c.168C>T (p.Tyr56=)
|
rs200868796
|
0.00011
|
NM_006231.4(POLE):c.940T>G (p.Ser314Ala)
|
rs770403791
|
0.00011
|
NM_006514.4(SCN10A):c.599C>T (p.Ala200Val)
|
rs554062977
|
0.00011
|
NM_007294.4(BRCA1):c.1905T>C (p.Asn635=)
|
rs369373293
|
0.00011
|
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe)
|
rs80357250
|
0.00011
|
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val)
|
rs80357280
|
0.00011
|
NM_007294.4(BRCA1):c.4358-2725T>C
|
rs374519494
|
0.00011
|
NM_007294.4(BRCA1):c.441+18C>T
|
rs371973519
|
0.00011
|
NM_007294.4(BRCA1):c.4934G>C (p.Arg1645Thr)
|
rs70953661
|
0.00011
|
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala)
|
rs56195342
|
0.00011
|
NM_016953.4(PDE11A):c.1811C>G (p.Ser604Ter)
|
rs771254375
|
0.00011
|
NM_020937.4(FANCM):c.53G>A (p.Arg18Gln)
|
rs146609069
|
0.00011
|
NM_020975.6(RET):c.1642G>A (p.Gly548Ser)
|
rs374461212
|
0.00011
|
NM_022895.3(C12orf43):c.*2096C>T
|
rs571134960
|
0.00011
|
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr)
|
rs45510998
|
0.00011
|
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu)
|
rs28997573
|
0.00011
|
NM_080632.3(UPF3B):c.1136G>A (p.Arg379His)
|
rs140032597
|
0.00011
|
NM_198578.4(LRRK2):c.632C>T (p.Ala211Val)
|
rs112794616
|
0.00011
|
NM_206933.4(USH2A):c.14453C>T (p.Pro4818Leu)
|
rs143344549
|
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_000038.6(APC):c.388A>G (p.Ser130Gly)
|
rs150973053
|
0.00010
|
NM_000044.6(AR):c.1195T>C (p.Trp399Arg)
|
rs774645775
|
0.00010
|
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile)
|
rs200381392
|
0.00010
|
NM_000057.4(BLM):c.3991A>G (p.Arg1331Gly)
|
rs150631940
|
0.00010
|
NM_000059.4(BRCA2):c.10045A>G (p.Thr3349Ala)
|
rs80358387
|
0.00010
|
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser)
|
rs80358765
|
0.00010
|
NM_000059.4(BRCA2):c.8633-16C>G
|
rs81002818
|
0.00010
|
NM_000128.4(F11):c.1613C>T (p.Pro538Leu)
|
rs139695003
|
0.00010
|
NM_000132.4(F8):c.1337G>A (p.Arg446Gln)
|
rs781889613
|
0.00010
|
NM_000136.3(FANCC):c.1259C>T (p.Thr420Met)
|
rs779261511
|
0.00010
|
NM_000155.4(GALT):c.864C>T (p.Asn288=)
|
rs372134800
|
0.00010
|
NM_000179.3(MSH6):c.1729C>T (p.Arg577Cys)
|
rs542838372
|
0.00010
|
NM_000179.3(MSH6):c.1875C>T (p.Ser625=)
|
rs63749886
|
0.00010
|
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu)
|
rs191109849
|
0.00010
|
NM_000216.4(ANOS1):c.1699G>A (p.Gly567Ser)
|
rs142455173
|
0.00010
|
NM_000238.4(KCNH2):c.2944G>A (p.Asp982Asn)
|
rs569452580
|
0.00010
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
NM_000251.3(MSH2):c.1386+23T>G
|
rs747646424
|
0.00010
|
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro)
|
rs372731424
|
0.00010
|
NM_000260.4(MYO7A):c.1343+5C>T
|
rs113261636
|
0.00010
|
NM_000263.4(NAGLU):c.1693C>T (p.Arg565Trp)
|
rs104894597
|
0.00010
|
NM_000268.4(NF2):c.1737+1432G>A
|
rs746764835
|
0.00010
|
NM_000283.4(PDE6B):c.1927_1948del (p.Asn643fs)
|
rs1325957874
|
0.00010
|
NM_000322.5(PRPH2):c.623G>A (p.Gly208Asp)
|
rs139185976
|
0.00010
|
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs)
|
rs397515379
|
0.00010
|
NM_000402.4(G6PD):c.961G>A (p.Val321Met)
|
rs137852327
|
0.00010
|
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)
|
rs201118034
|
0.00010
|
NM_000451.4(SHOX):c.698C>T (p.Ala233Val)
|
rs750375727
|
0.00010
|
NM_000535.7(PMS2):c.714C>A (p.Ser238Arg)
|
rs151251082
|
0.00010
|
NM_000551.4(VHL):c.598C>T (p.Arg200Trp)
|
rs28940298
|
0.00010
|
NM_001048174.2(MUTYH):c.-6-7G>A
|
rs780029247
|
0.00010
|
NM_001048174.2(MUTYH):c.1205C>T (p.Pro402Leu)
|
rs587780079
|
0.00010
|
NM_001048174.2(MUTYH):c.397G>C (p.Asp133His)
|
rs564930066
|
0.00010
|
NM_001048174.2(MUTYH):c.566G>A (p.Arg189His)
|
rs147754007
|
0.00010
|
NM_001098.3(ACO2):c.2135C>T (p.Pro712Leu)
|
rs375761361
|
0.00010
|
NM_001136193.2(FASTKD2):c.882-1G>A
|
rs767682048
|
0.00010
|
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg)
|
rs202134424
|
0.00010
|
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_001378477.3(NYX):c.1034G>A (p.Trp345Ter)
|
rs62637037
|
0.00010
|
NM_001379270.1(CNGA1):c.640C>T (p.Arg214Ter)
|
rs759781200
|
0.00010
|
NM_001754.5(RUNX1):c.*4188G>C
|
rs761390141
|
0.00010
|
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln)
|
rs191391414
|
0.00010
|
NM_002691.4(POLD1):c.2987C>T (p.Thr996Met)
|
rs918661445
|
0.00010
|
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp)
|
rs181860632
|
0.00010
|
NM_002878.4(RAD51D):c.137C>G (p.Ser46Cys)
|
rs587780102
|
0.00010
|
NM_003000.3(SDHB):c.440A>G (p.Tyr147Cys)
|
rs774568101
|
0.00010
|
NM_004006.3(DMD):c.1318G>A (p.Glu440Lys)
|
rs189143447
|
0.00010
|
NM_004082.5(DCTN1):c.2353C>T (p.Arg785Trp)
|
rs121909344
|
0.00010
|
NM_005431.2(XRCC2):c.229G>C (p.Glu77Gln)
|
rs142527605
|
0.00010
|
NM_005448.2(BMP15):c.727A>G (p.Ile243Val)
|
rs782379521
|
0.00010
|
NM_006231.4(POLE):c.6531+6G>T
|
rs774747998
|
0.00010
|
NM_006329.4(FBLN5):c.1051C>T (p.Arg351Trp)
|
rs28939073
|
0.00010
|
NM_007059.4(KPTN):c.597_598dup (p.Ser200fs)
|
rs766372684
|
0.00010
|
NM_012193.4(FZD4):c.1589G>A (p.Gly530Glu)
|
rs201256460
|
0.00010
|
NM_016111.4(TELO2):c.2296G>A (p.Val766Met)
|
rs371675497
|
0.00010
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
NM_033343.4(LHX4):c.776G>A (p.Arg259Gln)
|
rs375216188
|
0.00010
|
NM_138959.3(VANGL1):c.248C>T (p.Ser83Leu)
|
rs146695372
|
0.00010
|
NM_152443.3(RDH12):c.701G>A (p.Arg234His)
|
rs750636662
|
0.00010
|
NM_000033.4(ABCD1):c.1399G>A (p.Val467Met)
|
rs192525493
|
0.00009
|
NM_000038.6(APC):c.95A>G (p.Asn32Ser)
|
rs539108537
|
0.00009
|
NM_000051.4(ATM):c.2778A>G (p.Lys926=)
|
rs372569168
|
0.00009
|
NM_000051.4(ATM):c.4167A>G (p.Thr1389=)
|
rs183214437
|
0.00009
|
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val)
|
rs539676759
|
0.00009
|
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr)
|
rs567060474
|
0.00009
|
NM_000059.4(BRCA2):c.2233A>G (p.Lys745Glu)
|
rs374691587
|
0.00009
|
NM_000059.4(BRCA2):c.6338A>G (p.Asn2113Ser)
|
rs80358874
|
0.00009
|
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu)
|
rs56121817
|
0.00009
|
NM_000070.3(CAPN3):c.2361_2362insTC (p.Arg788fs)
|
rs761897806
|
0.00009
|
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn)
|
rs369414658
|
0.00009
|
NM_000133.4(F9):c.1345C>T (p.Arg449Trp)
|
rs757996262
|
0.00009
|
NM_000136.3(FANCC):c.554G>A (p.Arg185Gln)
|
rs370346767
|
0.00009
|
NM_000179.3(MSH6):c.1730G>A (p.Arg577His)
|
rs376220212
|
0.00009
|
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser)
|
rs147453999
|
0.00009
|
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp)
|
rs1800938
|
0.00009
|
NM_000214.3(JAG1):c.1826C>T (p.Ser609Leu)
|
rs199505265
|
0.00009
|
NM_000245.4(MET):c.110T>C (p.Val37Ala)
|
rs201315884
|
0.00009
|
NM_000245.4(MET):c.2318C>T (p.Pro773Leu)
|
rs771333219
|
0.00009
|
NM_000249.4(MLH1):c.1709A>G (p.Asn570Ser)
|
rs375853155
|
0.00009
|
NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg)
|
rs63750876
|
0.00009
|
NM_000251.3(MSH2):c.2802G>A (p.Thr934=)
|
rs150259097
|
0.00009
|
NM_000260.4(MYO7A):c.1997G>A (p.Arg666Gln)
|
rs782396605
|
0.00009
|
NM_000264.5(PTCH1):c.4219G>A (p.Gly1407Ser)
|
rs56161606
|
0.00009
|
NM_000268.4(NF2):c.1540A>G (p.Met514Val)
|
rs201527155
|
0.00009
|
NM_000302.4(PLOD1):c.1650G>A (p.Thr550=)
|
rs201999965
|
0.00009
|
NM_000314.6(PTEN):c.-920G>A
|
rs786204937
|
0.00009
|
NM_000335.5(SCN5A):c.2066G>A (p.Arg689His)
|
rs199473145
|
0.00009
|
NM_000335.5(SCN5A):c.5686C>T (p.Arg1896Trp)
|
rs45465995
|
0.00009
|
NM_000335.5(SCN5A):c.934+4C>T
|
rs182050752
|
0.00009
|
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu)
|
rs61750145
|
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_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)
|
rs375315619
|
0.00009
|
NM_000465.4(BARD1):c.1059C>G (p.Pro353=)
|
rs368649242
|
0.00009
|
NM_000465.4(BARD1):c.1694G>A (p.Arg565His)
|
rs146946984
|
0.00009
|
NM_000465.4(BARD1):c.1904-412A>T
|
rs536758903
|
0.00009
|
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)
|
rs121909011
|
0.00009
|
NM_000492.4(CFTR):c.137C>T (p.Ala46Val)
|
rs151020603
|
0.00009
|
NM_000492.4(CFTR):c.2657+2_2657+3insA
|
rs397508414
|
0.00009
|
NM_000492.4(CFTR):c.4357C>T (p.Arg1453Trp)
|
rs4148725
|
0.00009
|
NM_000747.3(CHRNB1):c.500T>C (p.Met167Thr)
|
rs1284035468
|
0.00009
|
NM_001037.5(SCN1B):c.448+189C>A
|
rs766373298
|
0.00009
|
NM_001048174.2(MUTYH):c.583A>G (p.Ile195Val)
|
rs200872702
|
0.00009
|
NM_001079668.3(NKX2-1):c.1106C>T (p.Ala369Val)
|
rs537209983
|
0.00009
|
NM_001080517.3(SETD5):c.2299C>T (p.Arg767Cys)
|
rs183911558
|
0.00009
|
NM_001081.4(CUBN):c.9053A>C (p.Tyr3018Ser)
|
rs370778353
|
0.00009
|
NM_001113378.2(FANCI):c.3706G>A (p.Val1236Ile)
|
rs377165815
|
0.00009
|
NM_001126108.2(SLC12A3):c.1946C>T (p.Thr649Met)
|
rs145337602
|
0.00009
|
NM_001199165.4(CEP112):c.2074C>T (p.Arg692Trp)
|
rs149561928
|
0.00009
|
NM_001364905.1(LRBA):c.7879T>C (p.Trp2627Arg)
|
rs200295901
|
0.00009
|
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp)
|
rs143329068
|
0.00009
|
NM_001370658.1(BTD):c.1395C>G (p.His465Gln)
|
rs201604102
|
0.00009
|
NM_001370658.1(BTD):c.262A>G (p.Ile88Val)
|
rs976185636
|
0.00009
|
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr)
|
rs121909100
|
0.00009
|
NM_001379451.1(BCORL1):c.2459A>G (p.Asn820Ser)
|
rs398123004
|
0.00009
|
NM_002529.4(NTRK1):c.1187C>T (p.Ser396Leu)
|
rs199646180
|
0.00009
|
NM_002691.4(POLD1):c.1182C>T (p.Thr394=)
|
rs377462923
|
0.00009
|
NM_002691.4(POLD1):c.1596C>T (p.Ala532=)
|
rs550441767
|
0.00009
|
NM_002691.4(POLD1):c.2388+5G>A
|
rs750085275
|
0.00009
|
NM_002691.4(POLD1):c.3271G>A (p.Asp1091Asn)
|
rs946088822
|
0.00009
|
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val)
|
rs202003805
|
0.00009
|
NM_003244.4(TGIF1):c.377T>C (p.Val126Ala)
|
rs199580307
|
0.00009
|
NM_003690.5(PRKRA):c.665C>T (p.Pro222Leu)
|
rs121434410
|
0.00009
|
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)
|
rs104894408
|
0.00009
|
NM_004006.3(DMD):c.4072-106G>A
|
rs372444729
|
0.00009
|
NM_004360.5(CDH1):c.1996A>C (p.Asn666His)
|
rs150427791
|
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_004667.6(HERC2):c.1442C>T (p.Thr481Met)
|
rs200457382
|
0.00009
|
NM_005228.5(EGFR):c.2885G>A (p.Arg962His)
|
rs144496976
|
0.00009
|
NM_005245.4(FAT1):c.4723G>A (p.Ala1575Thr)
|
rs768661863
|
0.00009
|
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val)
|
rs758719669
|
0.00009
|
NM_007194.4(CHEK2):c.*7T>C
|
rs121908710
|
0.00009
|
NM_007194.4(CHEK2):c.319+2T>A
|
rs587782401
|
0.00009
|
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly)
|
rs28909982
|
0.00009
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
NM_007194.4(CHEK2):c.751A>T (p.Ile251Phe)
|
rs587780189
|
0.00009
|
NM_007294.4(BRCA1):c.2352G>A (p.Ser784=)
|
rs372017932
|
0.00009
|
NM_007294.4(BRCA1):c.314A>G (p.Tyr105Cys)
|
rs28897673
|
0.00009
|
NM_007294.4(BRCA1):c.5152+20T>A
|
rs376836050
|
0.00009
|
NM_013447.4(ADGRE2):c.584G>A (p.Trp195Ter)
|
rs752508886
|
0.00009
|
NM_016038.4(SBDS):c.388G>A (p.Val130Met)
|
rs201070132
|
0.00009
|
NM_020975.6(RET):c.961G>A (p.Gly321Arg)
|
rs377767388
|
0.00009
|
NM_021784.5(FOXA2):c.1001C>T (p.Ala334Val)
|
rs199796119
|
0.00009
|
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp)
|
rs149242794
|
0.00009
|
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg)
|
rs515726072
|
0.00009
|
NM_024675.4(PALB2):c.2379C>T (p.Gly793=)
|
rs377626805
|
0.00009
|
NM_025132.4(WDR19):c.1250-1G>A
|
rs1327583103
|
0.00009
|
NM_032043.3(BRIP1):c.316C>T (p.Arg106Cys)
|
rs587780247
|
0.00009
|
NM_153026.3(PRICKLE1):c.824C>T (p.Thr275Met)
|
rs559947948
|
0.00009
|
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg)
|
rs144332569
|
0.00009
|
NM_198253.3(TERT):c.2001C>T (p.Tyr667=)
|
rs758494245
|
0.00009
|
NM_198253.3(TERT):c.3268G>A (p.Val1090Met)
|
rs121918664
|
0.00009
|
NM_206933.4(USH2A):c.13217T>C (p.Leu4406Pro)
|
rs745693690
|
0.00009
|
NR_136154.1(PMS2):n.13T>C
|
rs746329908
|
0.00009
|
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly)
|
rs201375478
|
0.00008
|
NM_000038.6(APC):c.7471A>G (p.Met2491Val)
|
rs375674083
|
0.00008
|
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu)
|
rs200431631
|
0.00008
|
NM_000054.7(AVPR2):c.485T>C (p.Val162Ala)
|
rs374461463
|
0.00008
|
NM_000057.4(BLM):c.3427G>A (p.Glu1143Lys)
|
rs140387675
|
0.00008
|
NM_000059.4(BRCA2):c.517-4C>G
|
rs81002804
|
0.00008
|
NM_000059.4(BRCA2):c.9501+3A>T
|
rs61757642
|
0.00008
|
NM_000081.4(LYST):c.949G>A (p.Glu317Lys)
|
rs201337542
|
0.00008
|
NM_000129.4(F13A1):c.1184C>T (p.Ala395Val)
|
rs76451285
|
0.00008
|
NM_000237.3(LPL):c.134C>A (p.Thr45Asn)
|
rs143944126
|
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_000335.5(SCN5A):c.3536C>T (p.Ala1179Val)
|
rs41310765
|
0.00008
|
NM_000402.4(G6PD):c.185A>G (p.His62Arg)
|
rs137852340
|
0.00008
|
NM_000402.4(G6PD):c.770G>A (p.Arg257Gln)
|
rs137852328
|
0.00008
|
NM_000455.5(STK11):c.920+5G>A
|
rs587780013
|
0.00008
|
NM_000465.4(BARD1):c.1339C>G (p.Leu447Val)
|
rs376727038
|
0.00008
|
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser)
|
rs587781976
|
0.00008
|
NM_000492.4(CFTR):c.1585-1G>A
|
rs76713772
|
0.00008
|
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)
|
rs199739859
|
0.00008
|
NM_000540.3(RYR1):c.11518G>A (p.Val3840Ile)
|
rs140616359
|
0.00008
|
NM_001042432.2(CLN3):c.1213C>T (p.Arg405Trp)
|
rs139842473
|
0.00008
|
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met)
|
rs147718169
|
0.00008
|
NM_001128840.3(CACNA1D):c.1722G>A (p.Met574Ile)
|
rs373740752
|
0.00008
|
NM_001142800.2(EYS):c.5928-2A>G
|
rs181169439
|
0.00008
|
NM_001165963.4(SCN1A):c.3714A>C (p.Glu1238Asp)
|
rs121917973
|
0.00008
|
NM_001386298.1(CIC):c.133G>A (p.Asp45Asn)
|
rs1044899707
|
0.00008
|
NM_001399.5(EDA):c.491A>C (p.Glu164Ala)
|
rs397516663
|
0.00008
|
NM_001849.4(COL6A2):c.1970-9G>A
|
rs747900252
|
0.00008
|
NM_002485.5(NBN):c.671G>A (p.Gly224Glu)
|
rs199845467
|
0.00008
|
NM_002529.4(NTRK1):c.509T>C (p.Val170Ala)
|
rs201503610
|
0.00008
|
NM_002878.4(RAD51D):c.355T>C (p.Cys119Arg)
|
rs201313861
|
0.00008
|
NM_002878.4(RAD51D):c.973G>A (p.Gly325Ser)
|
rs587780106
|
0.00008
|
NM_002907.4(RECQL):c.386G>A (p.Cys129Tyr)
|
rs187203579
|
0.00008
|
NM_002968.3(SALL1):c.1738A>G (p.Ile580Val)
|
rs761575154
|
0.00008
|
NM_003579.4(RAD54L):c.796G>C (p.Val266Leu)
|
rs139487723
|
0.00008
|
NM_003737.4(DCHS1):c.2382G>C (p.Gln794His)
|
rs369091875
|
0.00008
|
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)
|
rs370644567
|
0.00008
|
NM_004360.5(CDH1):c.387+5G>A
|
rs113055163
|
0.00008
|
NM_004369.4(COL6A3):c.1292C>T (p.Pro431Leu)
|
rs144746928
|
0.00008
|
NM_005263.5(GFI1):c.1250C>T (p.Thr417Met)
|
rs777241871
|
0.00008
|
NM_005491.5(MAMLD1):c.1151C>T (p.Pro384Leu)
|
rs370173998
|
0.00008
|
NM_006231.4(POLE):c.926A>G (p.Asn309Ser)
|
rs767060387
|
0.00008
|
NM_006412.4(AGPAT2):c.377dup (p.Pro128fs)
|
rs387906355
|
0.00008
|
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr)
|
rs531398630
|
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_020975.6(RET):c.2081G>A (p.Arg694Gln)
|
rs141185224
|
0.00008
|
NM_020975.6(RET):c.2611G>A (p.Val871Ile)
|
rs145170911
|
0.00008
|
NM_022124.6(CDH23):c.415G>A (p.Val139Ile)
|
rs771868822
|
0.00008
|
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser)
|
rs267606941
|
0.00008
|
NM_024426.6(WT1):c.314C>G (p.Ala105Gly)
|
rs948061247
|
0.00008
|
NM_024675.4(PALB2):c.2201C>A (p.Thr734Asn)
|
rs878855107
|
0.00008
|
NM_024675.4(PALB2):c.2509G>A (p.Glu837Lys)
|
rs587778587
|
0.00008
|
NM_024675.4(PALB2):c.3056T>C (p.Val1019Ala)
|
rs376619846
|
0.00008
|
NM_033380.3(COL4A5):c.4246C>T (p.Arg1416Cys)
|
rs104886270
|
0.00008
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
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_000033.4(ABCD1):c.1840G>A (p.Gly614Ser)
|
rs146525445
|
0.00007
|
NM_000038.6(APC):c.6473C>G (p.Pro2158Arg)
|
rs587779804
|
0.00007
|
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly)
|
rs147287751
|
0.00007
|
NM_000051.4(ATM):c.125A>G (p.His42Arg)
|
rs201773026
|
0.00007
|
NM_000051.4(ATM):c.2021A>G (p.His674Arg)
|
rs201762714
|
0.00007
|
NM_000051.4(ATM):c.4658A>C (p.Glu1553Ala)
|
rs587778075
|
0.00007
|
NM_000051.4(ATM):c.496+4T>C
|
rs587781375
|
0.00007
|
NM_000051.4(ATM):c.749G>A (p.Arg250Gln)
|
rs56123940
|
0.00007
|
NM_000057.4(BLM):c.2720C>T (p.Thr907Met)
|
rs367953471
|
0.00007
|
NM_000059.4(BRCA2):c.3568C>T (p.Arg1190Trp)
|
rs80358604
|
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_000132.4(F8):c.5291A>G (p.Gln1764Arg)
|
rs374988541
|
0.00007
|
NM_000133.4(F9):c.1346G>A (p.Arg449Gln)
|
rs143018900
|
0.00007
|
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)
|
rs104886457
|
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_000243.3(MEFV):c.1958G>A (p.Arg653His)
|
rs104895085
|
0.00007
|
NM_000245.4(MET):c.3218C>T (p.Pro1073Leu)
|
rs370529693
|
0.00007
|
NM_000245.4(MET):c.803C>T (p.Thr268Ile)
|
rs757427533
|
0.00007
|
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala)
|
rs267607939
|
0.00007
|
NM_000264.5(PTCH1):c.3241G>A (p.Val1081Met)
|
rs587778629
|
0.00007
|
NM_000292.3(PHKA2):c.3289G>A (p.Gly1097Ser)
|
rs145952475
|
0.00007
|
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys)
|
rs199473339
|
0.00007
|
NM_000335.5(SCN5A):c.4067C>T (p.Ala1356Val)
|
rs370588133
|
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_000518.5(HBB):c.92+6T>C
|
rs35724775
|
0.00007
|
NM_000535.7(PMS2):c.1280G>A (p.Arg427His)
|
rs112902065
|
0.00007
|
NM_000535.7(PMS2):c.384G>A (p.Ser128=)
|
rs371342884
|
0.00007
|
NM_000548.5(TSC2):c.1656A>G (p.Ala552=)
|
rs373515515
|
0.00007
|
NM_001042492.3(NF1):c.4943C>T (p.Thr1648Ile)
|
rs376655102
|
0.00007
|
NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser)
|
rs147462227
|
0.00007
|
NM_001148.6(ANK2):c.11683G>A (p.Val3895Met)
|
rs72556370
|
0.00007
|
NM_001167.4(XIAP):c.962C>G (p.Ala321Gly)
|
rs182340753
|
0.00007
|
NM_001298.3(CNGA3):c.829C>T (p.Arg277Cys)
|
rs104893620
|
0.00007
|
NM_001379451.1(BCORL1):c.4079_4081del (p.Asp1360_Leu1361delinsVal)
|
rs781578120
|
0.00007
|
NM_001875.5(CPS1):c.167T>G (p.Met56Arg)
|
rs778958318
|
0.00007
|
NM_002234.4(KCNA5):c.464A>G (p.Tyr155Cys)
|
rs202117321
|
0.00007
|
NM_002448.3(MSX1):c.127A>C (p.Met43Leu)
|
rs565664559
|
0.00007
|
NM_002454.3(MTRR):c.903+469T>C
|
rs893229476
|
0.00007
|
NM_002834.5(PTPN11):c.1678C>T (p.Leu560Phe)
|
rs397516797
|
0.00007
|
NM_003244.4(TGIF1):c.289A>G (p.Met97Val)
|
rs369440102
|
0.00007
|
NM_004360.5(CDH1):c.854C>T (p.Thr285Ile)
|
rs587781634
|
0.00007
|
NM_004387.4(NKX2-5):c.64C>A (p.Gln22Lys)
|
rs764389026
|
0.00007
|
NM_004656.4(BAP1):c.1201T>G (p.Tyr401Asp)
|
rs376563004
|
0.00007
|
NM_005228.5(EGFR):c.1774G>A (p.Val592Ile)
|
rs144943614
|
0.00007
|
NM_005228.5(EGFR):c.1816C>G (p.Leu606Val)
|
rs143152775
|
0.00007
|
NM_005245.4(FAT1):c.10331A>G (p.Asn3444Ser)
|
rs188148421
|
0.00007
|
NM_005257.6(GATA6):c.151G>A (p.Glu51Lys)
|
rs770662152
|
0.00007
|
NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs)
|
rs587781442
|
0.00007
|
NM_006231.4(POLE):c.6331-8C>T
|
rs769766403
|
0.00007
|
NM_007194.4(CHEK2):c.1141A>G (p.Met381Val)
|
rs375130261
|
0.00007
|
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val)
|
rs56039126
|
0.00007
|
NM_007294.4(BRCA1):c.3783A>G (p.Leu1261=)
|
rs80356831
|
0.00007
|
NM_007294.4(BRCA1):c.4358-48A>G
|
rs200393646
|
0.00007
|
NM_012452.3(TNFRSF13B):c.118T>C (p.Trp40Arg)
|
rs72553874
|
0.00007
|
NM_013447.4(ADGRE2):c.2266G>T (p.Ala756Ser)
|
rs373190699
|
0.00007
|
NM_015261.3(NCAPD3):c.4483A>T (p.Lys1495Ter)
|
rs370256378
|
0.00007
|
NM_018062.4(FANCL):c.296_297del (p.Gln99fs)
|
rs779544327
|
0.00007
|
NM_020975.6(RET):c.1942G>A (p.Val648Ile)
|
rs77711105
|
0.00007
|
NM_022469.4(GREM2):c.38C>T (p.Ala13Val)
|
rs373941682
|
0.00007
|
NM_024408.4(NOTCH2):c.751+325G>T
|
rs782464243
|
0.00007
|
NM_032634.4(PIGO):c.590C>T (p.Pro197Leu)
|
rs150734953
|
0.00007
|
NM_033440.3(CELA2A):c.209C>T (p.Thr70Met)
|
rs372947070
|
0.00007
|
NM_080425.4(GNAS):c.505C>T (p.Pro169Ser)
|
rs746247739
|
0.00007
|
NM_080632.3(UPF3B):c.1101G>C (p.Lys367Asn)
|
rs199727706
|
0.00007
|
NM_152443.3(RDH12):c.184C>T (p.Arg62Ter)
|
rs104894471
|
0.00007
|
NM_174936.4(PCSK9):c.317G>T (p.Gly106Val)
|
rs370751343
|
0.00007
|
NM_177438.3(DICER1):c.1692G>A (p.Ala564=)
|
rs143117334
|
0.00007
|
NM_000038.6(APC):c.1139G>A (p.Arg380Gln)
|
rs587782886
|
0.00006
|
NM_000038.6(APC):c.2110G>A (p.Val704Ile)
|
rs367804502
|
0.00006
|
NM_000038.6(APC):c.4249A>C (p.Ile1417Leu)
|
rs200166878
|
0.00006
|
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly)
|
rs370560998
|
0.00006
|
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn)
|
rs148275069
|
0.00006
|
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr)
|
rs372305287
|
0.00006
|
NM_000038.6(APC):c.7577A>G (p.His2526Arg)
|
rs750012595
|
0.00006
|
NM_000038.6(APC):c.7888G>A (p.Val2630Ile)
|
rs199688874
|
0.00006
|
NM_000051.4(ATM):c.1010G>A (p.Arg337His)
|
rs202160435
|
0.00006
|
NM_000051.4(ATM):c.2804C>T (p.Thr935Met)
|
rs3218708
|
0.00006
|
NM_000051.4(ATM):c.5352C>T (p.Asn1784=)
|
rs140641762
|
0.00006
|
NM_000051.4(ATM):c.6315G>C (p.Arg2105Ser)
|
rs587780632
|
0.00006
|
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter)
|
rs377349459
|
0.00006
|
NM_000051.4(ATM):c.8495G>A (p.Arg2832His)
|
rs529296539
|
0.00006
|
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu)
|
rs139379666
|
0.00006
|
NM_000051.4(ATM):c.946T>C (p.Tyr316His)
|
rs142317485
|
0.00006
|
NM_000057.4(BLM):c.114A>G (p.Lys38=)
|
rs770017301
|
0.00006
|
NM_000057.4(BLM):c.2237C>T (p.Ala746Val)
|
rs769498533
|
0.00006
|
NM_000057.4(BLM):c.2475G>A (p.Pro825=)
|
rs147587050
|
0.00006
|
NM_000057.4(BLM):c.2898C>G (p.Leu966=)
|
rs201220226
|
0.00006
|
NM_000057.4(BLM):c.3934G>A (p.Ala1312Thr)
|
rs527291754
|
0.00006
|
NM_000059.4(BRCA2):c.1096T>G (p.Leu366Val)
|
rs587779357
|
0.00006
|
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp)
|
rs80358451
|
0.00006
|
NM_000059.4(BRCA2):c.3715A>G (p.Lys1239Glu)
|
rs374191973
|
0.00006
|
NM_000059.4(BRCA2):c.7050C>T (p.Thr2350=)
|
rs587780870
|
0.00006
|
NM_000085.5(CLCNKB):c.1783C>T (p.Arg595Ter)
|
rs370221310
|
0.00006
|
NM_000085.5(CLCNKB):c.610G>A (p.Ala204Thr)
|
rs121909132
|
0.00006
|
NM_000085.5(CLCNKB):c.708C>A (p.Tyr236Ter)
|
rs201781905
|
0.00006
|
NM_000092.5(COL4A4):c.2756A>G (p.Glu919Gly)
|
rs753208968
|
0.00006
|
NM_000093.5(COL5A1):c.4892C>T (p.Thr1631Met)
|
rs764446683
|
0.00006
|
NM_000132.4(F8):c.3701A>T (p.His1234Leu)
|
rs145507297
|
0.00006
|
NM_000132.4(F8):c.4531G>A (p.Val1511Ile)
|
rs186353717
|
0.00006
|
NM_000136.3(FANCC):c.843+5G>A
|
rs369082921
|
0.00006
|
NM_000166.6(GJB1):c.37G>A (p.Val13Met)
|
rs104894820
|
0.00006
|
NM_000179.3(MSH6):c.1019T>C (p.Phe340Ser)
|
rs61753793
|
0.00006
|
NM_000179.3(MSH6):c.1050C>T (p.Ala350=)
|
rs730881802
|
0.00006
|
NM_000179.3(MSH6):c.1814C>G (p.Thr605Ser)
|
rs587781616
|
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_000213.5(ITGB4):c.2834G>A (p.Arg945Gln)
|
rs141953294
|
0.00006
|
NM_000238.4(KCNH2):c.2674C>T (p.Arg892Cys)
|
rs201627778
|
0.00006
|
NM_000238.4(KCNH2):c.3112G>A (p.Val1038Met)
|
rs199473544
|
0.00006
|
NM_000243.3(MEFV):c.1889C>T (p.Pro630Leu)
|
rs376579860
|
0.00006
|
NM_000243.3(MEFV):c.2033G>A (p.Gly678Glu)
|
rs104895088
|
0.00006
|
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)
|
rs28940578
|
0.00006
|
NM_000243.3(MEFV):c.866C>T (p.Ala289Val)
|
rs104895132
|
0.00006
|
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser)
|
rs63751467
|
0.00006
|
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg)
|
rs63750527
|
0.00006
|
NM_000249.4(MLH1):c.1989+37T>C
|
rs374195343
|
0.00006
|
NM_000249.4(MLH1):c.207+523G>A
|
rs760066426
|
0.00006
|
NM_000249.4(MLH1):c.453G>A (p.Thr151=)
|
rs369521379
|
0.00006
|
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)
|
rs63750796
|
0.00006
|
NM_000251.3(MSH2):c.382C>G (p.Leu128Val)
|
rs145649774
|
0.00006
|
NM_000251.3(MSH2):c.499G>C (p.Asp167His)
|
rs63750255
|
0.00006
|
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys)
|
rs573916965
|
0.00006
|
NM_000256.3(MYBPC3):c.2197C>T (p.Arg733Cys)
|
rs397515956
|
0.00006
|
NM_000256.3(MYBPC3):c.2761C>G (p.Gln921Glu)
|
rs367729718
|
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_000275.3(OCA2):c.2359G>A (p.Ala787Thr)
|
rs142988897
|
0.00006
|
NM_000284.4(PDHA1):c.16G>A (p.Ala6Thr)
|
rs768396832
|
0.00006
|
NM_000321.3(RB1):c.2360G>A (p.Arg787Gln)
|
rs748094394
|
0.00006
|
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His)
|
rs199473592
|
0.00006
|
NM_000335.5(SCN5A):c.393-5C>A
|
rs368678204
|
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_000335.5(SCN5A):c.5689C>T (p.Arg1897Cys)
|
rs373118001
|
0.00006
|
NM_000384.3(APOB):c.10579C>T (p.Arg3527Trp)
|
rs144467873
|
0.00006
|
NM_000400.4(ERCC2):c.946C>G (p.Gln316Glu)
|
rs757790912
|
0.00006
|
NM_000410.4(HFE):c.175G>A (p.Val59Met)
|
rs111033557
|
0.00006
|
NM_000441.2(SLC26A4):c.1454C>T (p.Thr485Met)
|
rs370029782
|
0.00006
|
NM_000451.4(SHOX):c.295G>C (p.Glu99Gln)
|
rs768170715
|
0.00006
|
NM_000455.5(STK11):c.842C>T (p.Pro281Leu)
|
rs121913322
|
0.00006
|
NM_000455.5(STK11):c.992G>A (p.Arg331Gln)
|
rs371264852
|
0.00006
|
NM_000465.4(BARD1):c.1973G>A (p.Arg658His)
|
rs377227840
|
0.00006
|
NM_000465.4(BARD1):c.716T>A (p.Leu239Gln)
|
rs200359745
|
0.00006
|
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys)
|
rs3738885
|
0.00006
|
NM_000492.4(CFTR):c.1519A>G (p.Ile507Val)
|
rs1801178
|
0.00006
|
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn)
|
rs121908755
|
0.00006
|
NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr)
|
rs75549581
|
0.00006
|
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu)
|
rs75961395
|
0.00006
|
NM_000492.4(CFTR):c.2657+5G>A
|
rs80224560
|
0.00006
|
NM_000492.4(CFTR):c.3140-26A>G
|
rs76151804
|
0.00006
|
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys)
|
rs78194216
|
0.00006
|
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)
|
rs78769542
|
0.00006
|
NM_000492.4(CFTR):c.4232A>C (p.Gln1411Pro)
|
rs150177304
|
0.00006
|
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)
|
rs141482808
|
0.00006
|
NM_000501.4(ELN):c.1150+1G>A
|
rs727503030
|
0.00006
|
NM_000518.5(HBB):c.79G>A (p.Glu27Lys)
|
rs33950507
|
0.00006
|
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met)
|
rs138477254
|
0.00006
|
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp)
|
rs121964959
|
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_001005242.3(PKP2):c.1444A>G (p.Thr482Ala)
|
rs397516999
|
0.00006
|
NM_001009944.3(PKD1):c.6878C>T (p.Pro2293Leu)
|
rs530832015
|
0.00006
|
NM_001009944.3(PKD1):c.7321G>A (p.Gly2441Ser)
|
rs376618983
|
0.00006
|
NM_001042492.3(NF1):c.7006G>A (p.Ala2336Thr)
|
rs587781428
|
0.00006
|
NM_001042492.3(NF1):c.8395G>A (p.Val2799Ile)
|
rs377393842
|
0.00006
|
NM_001048174.2(MUTYH):c.1156C>T (p.Gln386Ter)
|
rs766420907
|
0.00006
|
NM_001061.7(TBXAS1):c.1417G>T (p.Gly473Trp)
|
rs149988492
|
0.00006
|
NM_001079668.3(NKX2-1):c.1054G>A (p.Gly352Ser)
|
rs200560568
|
0.00006
|
NM_001083116.3(PRF1):c.632C>T (p.Ala211Val)
|
rs368524364
|
0.00006
|
NM_001105247.2(ARMC5):c.1039C>T (p.Pro347Ser)
|
rs79238971
|
0.00006
|
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His)
|
rs563762318
|
0.00006
|
NM_001142800.2(EYS):c.35T>C (p.Met12Thr)
|
rs755947942
|
0.00006
|
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala)
|
rs772888249
|
0.00006
|
NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)
|
rs137853190
|
0.00006
|
NM_001171.6(ABCC6):c.2278C>T (p.Arg760Trp)
|
rs72653788
|
0.00006
|
NM_001184880.2(PCDH19):c.2873G>A (p.Arg958Gln)
|
rs748581653
|
0.00006
|
NM_001267550.2(TTN):c.-71G>A
|
rs368880755
|
0.00006
|
NM_001358530.2(MOCS1):c.1468C>T (p.Arg490Trp)
|
rs201889779
|
0.00006
|
NM_001370259.2(MEN1):c.803A>G (p.Tyr268Cys)
|
rs773500082
|
0.00006
|
NM_001378969.1(KCND3):c.1348C>T (p.Leu450Phe)
|
rs150401343
|
0.00006
|
NM_002016.2(FLG):c.3905C>A (p.Ser1302Ter)
|
rs754812742
|
0.00006
|
NM_002016.2(FLG):c.4544C>A (p.Ser1515Ter)
|
rs180768115
|
0.00006
|
NM_002016.2(FLG):c.7264G>T (p.Glu2422Ter)
|
rs374588791
|
0.00006
|
NM_002016.2(FLG):c.9085C>T (p.Gln3029Ter)
|
rs564628353
|
0.00006
|
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln)
|
rs121913502
|
0.00006
|
NM_002485.5(NBN):c.1198G>A (p.Ala400Thr)
|
rs551602980
|
0.00006
|
NM_002878.4(RAD51D):c.263+1641C>T
|
rs142387263
|
0.00006
|
NM_002878.4(RAD51D):c.263+7G>A
|
rs56218020
|
0.00006
|
NM_002878.4(RAD51D):c.715C>T (p.Arg239Trp)
|
rs770250516
|
0.00006
|
NM_002878.4(RAD51D):c.957G>A (p.Gln319=)
|
rs147669627
|
0.00006
|
NM_002907.4(RECQL):c.17-15C>T
|
rs200928682
|
0.00006
|
NM_002907.4(RECQL):c.395-7C>T
|
rs760078101
|
0.00006
|
NM_003000.3(SDHB):c.112C>T (p.Arg38Cys)
|
rs202119350
|
0.00006
|
NM_003042.4(SLC6A1):c.830G>A (p.Arg277His)
|
rs752396911
|
0.00006
|
NM_003227.4(TFR2):c.1118G>A (p.Gly373Asp)
|
rs202221581
|
0.00006
|
NM_003242.6(TGFBR2):c.985G>A (p.Ala329Thr)
|
rs148665451
|
0.00006
|
NM_003466.4(PAX8):c.1028A>G (p.Asn343Ser)
|
rs374652916
|
0.00006
|
NM_003482.4(KMT2D):c.14893G>A (p.Ala4965Thr)
|
rs200747934
|
0.00006
|
NM_003560.4(PLA2G6):c.1495G>A (p.Ala499Thr)
|
rs141045127
|
0.00006
|
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)
|
rs121908680
|
0.00006
|
NM_003977.4(AIP):c.145G>A (p.Val49Met)
|
rs1063385
|
0.00006
|
NM_004004.6(GJB2):c.23C>T (p.Thr8Met)
|
rs529500747
|
0.00006
|
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp)
|
rs376898963
|
0.00006
|
NM_004092.4(ECHS1):c.583G>A (p.Gly195Ser)
|
rs761989177
|
0.00006
|
NM_004360.5(CDH1):c.214G>A (p.Asp72Asn)
|
rs35606263
|
0.00006
|
NM_004360.5(CDH1):c.393C>T (p.Ser131=)
|
rs145430811
|
0.00006
|
NM_004933.3(CDH15):c.568C>T (p.Arg190Trp)
|
rs137923863
|
0.00006
|
NM_004958.4(MTOR):c.889G>A (p.Asp297Asn)
|
rs141936187
|
0.00006
|
NM_005431.2(XRCC2):c.39+8C>G
|
rs200363289
|
0.00006
|
NM_005431.2(XRCC2):c.509A>C (p.Glu170Ala)
|
rs778143946
|
0.00006
|
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter)
|
rs143153871
|
0.00006
|
NM_006005.3(WFS1):c.28C>T (p.Pro10Ser)
|
rs760256649
|
0.00006
|
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr)
|
rs140566004
|
0.00006
|
NM_006231.4(POLE):c.3054C>T (p.Tyr1018=)
|
rs201249963
|
0.00006
|
NM_006231.4(POLE):c.4901G>A (p.Arg1634His)
|
rs760149463
|
0.00006
|
NM_006343.3(MERTK):c.1296+1G>A
|
rs774577413
|
0.00006
|
NM_006514.4(SCN10A):c.599+1G>A
|
rs75991777
|
0.00006
|
NM_006623.4(PHGDH):c.1468G>A (p.Val490Met)
|
rs121907987
|
0.00006
|
NM_007129.5(ZIC2):c.*954T>A
|
rs760662121
|
0.00006
|
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu)
|
rs587780180
|
0.00006
|
NM_007194.4(CHEK2):c.539G>A (p.Arg180His)
|
rs137853009
|
0.00006
|
NM_007194.4(CHEK2):c.542G>A (p.Arg181His)
|
rs121908701
|
0.00006
|
NM_007294.4(BRCA1):c.135-3T>C
|
rs759417413
|
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_012281.3(KCND2):c.1834G>A (p.Asp612Asn)
|
rs151258092
|
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_014026.6(DCPS):c.947C>T (p.Thr316Met)
|
rs137941190
|
0.00006
|
NM_014271.4(IL1RAPL1):c.1910C>G (p.Thr637Ser)
|
rs756672167
|
0.00006
|
NM_014585.6(SLC40A1):c.695C>A (p.Ala232Asp)
|
rs760236238
|
0.00006
|
NM_015443.4(KANSL1):c.868C>T (p.Arg290Ter)
|
rs149830411
|
0.00006
|
NM_015937.6(PIGT):c.1582G>A (p.Val528Met)
|
rs771157170
|
0.00006
|
NM_015937.6(PIGT):c.494-2A>G
|
rs200790673
|
0.00006
|
NM_016213.5(TRIP4):c.925C>T (p.Arg309Ter)
|
rs147303485
|
0.00006
|
NM_016239.4(MYO15A):c.3524dup (p.Ser1176fs)
|
rs766187994
|
0.00006
|
NM_017617.5(NOTCH1):c.1945C>A (p.Pro649Thr)
|
rs780710009
|
0.00006
|
NM_018646.6(TRPV6):c.668T>C (p.Ile223Thr)
|
rs529924080
|
0.00006
|
NM_020158.4(EXOSC5):c.341C>T (p.Thr114Ile)
|
rs542429051
|
0.00006
|
NM_020320.5(RARS2):c.35A>G (p.Gln12Arg)
|
rs147391618
|
0.00006
|
NM_020647.4(JPH1):c.638G>C (p.Arg213Pro)
|
rs201314759
|
0.00006
|
NM_020822.3(KCNT1):c.3502+1584G>A
|
rs759235951
|
0.00006
|
NM_020975.6(RET):c.1597G>A (p.Gly533Ser)
|
rs75873440
|
0.00006
|
NM_020975.6(RET):c.2116G>A (p.Val706Met)
|
rs137855422
|
0.00006
|
NM_020975.6(RET):c.2527G>A (p.Glu843Lys)
|
rs755837568
|
0.00006
|
NM_024426.6(WT1):c.162C>G (p.Ser54Arg)
|
rs776954184
|
0.00006
|
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys)
|
rs200620434
|
0.00006
|
NM_024675.4(PALB2):c.109C>A (p.Arg37Ser)
|
rs200048921
|
0.00006
|
NM_024675.4(PALB2):c.1935G>A (p.Glu645=)
|
rs141707455
|
0.00006
|
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His)
|
rs62625284
|
0.00006
|
NM_024675.4(PALB2):c.560C>A (p.Pro187His)
|
rs371582757
|
0.00006
|
NM_024675.4(PALB2):c.768C>T (p.Ser256=)
|
rs45487491
|
0.00006
|
NM_024876.4(COQ8B):c.1560G>A (p.Trp520Ter)
|
rs369205319
|
0.00006
|
NM_030773.4(TUBB1):c.35del (p.Cys12fs)
|
rs773248042
|
0.00006
|
NM_030973.4(MED25):c.418C>T (p.Arg140Trp)
|
rs781140315
|
0.00006
|
NM_032043.3(BRIP1):c.-22C>A
|
rs377620948
|
0.00006
|
NM_032043.3(BRIP1):c.2232C>T (p.Asp744=)
|
rs374362388
|
0.00006
|
NM_032119.4(ADGRV1):c.17668_17669del (p.Met5890fs)
|
rs757696771
|
0.00006
|
NM_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser)
|
rs200058876
|
0.00006
|
NM_032444.4(SLX4):c.2941G>A (p.Gly981Arg)
|
rs546628836
|
0.00006
|
NM_033343.4(LHX4):c.1165C>A (p.Pro389Thr)
|
rs145433128
|
0.00006
|
NM_058195.4(CDKN2A):c.160C>A (p.Arg54Ser)
|
rs896054565
|
0.00006
|
NM_058216.3(RAD51C):c.870T>A (p.Ile290=)
|
rs376402418
|
0.00006
|
NM_133497.4(KCNV2):c.647T>C (p.Ile216Thr)
|
rs558295858
|
0.00006
|
NM_138387.4(G6PC3):c.778G>C (p.Gly260Arg)
|
rs200478425
|
0.00006
|
NM_152419.3(HGSNAT):c.1297A>G (p.Asn433Asp)
|
rs371469177
|
0.00006
|
NM_153212.3(GJB4):c.386G>A (p.Trp129Ter)
|
rs148182439
|
0.00006
|
NM_198253.3(TERT):c.2177C>T (p.Thr726Met)
|
rs149566858
|
0.00006
|
NM_198947.4(FAM111B):c.368_369insCT (p.Gln124fs)
|
rs767223238
|
0.00006
|
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp)
|
rs387907097
|
0.00006
|
NM_203447.4(DOCK8):c.1865A>G (p.Asn622Ser)
|
rs766901544
|
0.00006
|
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)
|
rs201527662
|
0.00006
|
NC_000012.12:g.57752350C>T
|
rs1280668662
|
0.00005
|
NM_000033.4(ABCD1):c.55G>T (p.Ala19Ser)
|
rs965462099
|
0.00005
|
NM_000033.4(ABCD1):c.854G>A (p.Arg285His)
|
rs782635828
|
0.00005
|
NM_000038.6(APC):c.1553C>T (p.Thr518Met)
|
rs371453363
|
0.00005
|
NM_000038.6(APC):c.3625G>A (p.Glu1209Lys)
|
rs201185479
|
0.00005
|
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser)
|
rs143796828
|
0.00005
|
NM_000038.6(APC):c.5879C>T (p.Pro1960Leu)
|
rs587781546
|
0.00005
|
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp)
|
rs55723361
|
0.00005
|
NM_000051.4(ATM):c.3403-14_3403-13del
|
rs1565441205
|
0.00005
|
NM_000053.4(ATP7B):c.1285+5G>T
|
rs370579582
|
0.00005
|
NM_000057.4(BLM):c.934T>G (p.Ser312Ala)
|
rs372454889
|
0.00005
|
NM_000059.4(BRCA2):c.3539A>G (p.Lys1180Arg)
|
rs28897720
|
0.00005
|
NM_000059.4(BRCA2):c.6024G>C (p.Lys2008Asn)
|
rs56324666
|
0.00005
|
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr)
|
rs80359052
|
0.00005
|
NM_000059.4(BRCA2):c.9275A>G (p.Tyr3092Cys)
|
rs80359195
|
0.00005
|
NM_000077.5(CDKN2A):c.160A>C (p.Met54Leu)
|
rs201314211
|
0.00005
|
NM_000094.4(COL7A1):c.7864C>T (p.Arg2622Trp)
|
rs139318843
|
0.00005
|
NM_000123.4(ERCC5):c.1571C>T (p.Pro524Leu)
|
rs201684551
|
0.00005
|
NM_000132.4(F8):c.121G>T (p.Gly41Cys)
|
rs137852379
|
0.00005
|
NM_000132.4(F8):c.2150G>A (p.Arg717Gln)
|
rs942909873
|
0.00005
|
NM_000132.4(F8):c.2840C>G (p.Pro947Arg)
|
rs782318401
|
0.00005
|
NM_000132.4(F8):c.5024A>G (p.Gln1675Arg)
|
rs782280813
|
0.00005
|
NM_000132.4(F8):c.6374G>C (p.Ser2125Thr)
|
rs782363141
|
0.00005
|
NM_000133.4(F9):c.1048T>G (p.Ser350Ala)
|
rs147567879
|
0.00005
|
NM_000136.3(FANCC):c.1329+306C>T
|
rs185023012
|
0.00005
|
NM_000136.3(FANCC):c.1406C>T (p.Thr469Met)
|
rs149917017
|
0.00005
|
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly)
|
rs587779905
|
0.00005
|
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser)
|
rs80338734
|
0.00005
|
NM_000158.4(GBE1):c.1544G>A (p.Arg515His)
|
rs201958741
|
0.00005
|
NM_000159.4(GCDH):c.881G>A (p.Arg294Gln)
|
rs775606471
|
0.00005
|
NM_000179.3(MSH6):c.1844G>C (p.Cys615Ser)
|
rs730881793
|
0.00005
|
NM_000179.3(MSH6):c.2173A>G (p.Ile725Val)
|
rs148898662
|
0.00005
|
NM_000179.3(MSH6):c.2347T>A (p.Cys783Ser)
|
rs373721483
|
0.00005
|
NM_000179.3(MSH6):c.3513T>C (p.Asp1171=)
|
rs63749834
|
0.00005
|
NM_000238.4(KCNH2):c.2684C>T (p.Thr895Met)
|
rs199473434
|
0.00005
|
NM_000238.4(KCNH2):c.274C>T (p.Arg92Cys)
|
rs563611707
|
0.00005
|
NM_000245.4(MET):c.100G>A (p.Glu34Lys)
|
rs764246939
|
0.00005
|
NM_000245.4(MET):c.1988C>T (p.Ser663Leu)
|
rs376459715
|
0.00005
|
NM_000245.4(MET):c.4007G>A (p.Arg1336Gln)
|
rs369312680
|
0.00005
|
NM_000245.4(MET):c.789G>A (p.Thr263=)
|
rs554190225
|
0.00005
|
NM_000249.4(MLH1):c.1153C>T (p.Arg385Cys)
|
rs63750760
|
0.00005
|
NM_000249.4(MLH1):c.1154G>A (p.Arg385His)
|
rs63750430
|
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_000251.3(MSH2):c.843A>T (p.Ser281=)
|
rs150197753
|
0.00005
|
NM_000260.4(MYO7A):c.268C>T (p.Arg90Trp)
|
rs781834630
|
0.00005
|
NM_000268.4(NF2):c.947T>G (p.Leu316Trp)
|
rs750633919
|
0.00005
|
NM_000276.4(OCRL):c.2245G>T (p.Ala749Ser)
|
rs751678290
|
0.00005
|
NM_000285.4(PEPD):c.977G>A (p.Trp326Ter)
|
rs529315200
|
0.00005
|
NM_000310.4(PPT1):c.413C>T (p.Ser138Leu)
|
rs386833646
|
0.00005
|
NM_000335.5(SCN5A):c.1735G>A (p.Gly579Arg)
|
rs199473128
|
0.00005
|
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys)
|
rs201117452
|
0.00005
|
NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met)
|
rs142732109
|
0.00005
|
NM_000377.3(WAS):c.1081C>A (p.Pro361Thr)
|
rs201657175
|
0.00005
|
NM_000443.4(ABCB4):c.1481G>A (p.Arg494His)
|
rs753652201
|
0.00005
|
NM_000451.4(SHOX):c.-65C>A
|
rs922062046
|
0.00005
|
NM_000455.5(STK11):c.375-7G>A
|
rs587781176
|
0.00005
|
NM_000465.4(BARD1):c.1268A>G (p.Lys423Arg)
|
rs749383704
|
0.00005
|
NM_000465.4(BARD1):c.841C>T (p.Pro281Ser)
|
rs200059956
|
0.00005
|
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe)
|
rs1800089
|
0.00005
|
NM_000492.4(CFTR):c.2057C>A (p.Ser686Tyr)
|
rs201444561
|
0.00005
|
NM_000492.4(CFTR):c.3469-20T>C
|
rs373002889
|
0.00005
|
NM_000520.6(HEXA):c.533G>A (p.Arg178His)
|
rs28941770
|
0.00005
|
NM_000531.6(OTC):c.148G>A (p.Gly50Arg)
|
rs67486158
|
0.00005
|
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu)
|
rs374722096
|
0.00005
|
NM_000535.7(PMS2):c.1432A>G (p.Ser478Gly)
|
rs144389038
|
0.00005
|
NM_001034853.2(RPGR):c.865A>G (p.Ile289Val)
|
rs62640587
|
0.00005
|
NM_001048174.2(MUTYH):c.630C>T (p.Asn210=)
|
rs767327888
|
0.00005
|
NM_001135146.2(SLC39A8):c.610G>T (p.Gly204Cys)
|
rs779241085
|
0.00005
|
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly)
|
rs778030177
|
0.00005
|
NM_001184.4(ATR):c.1261A>G (p.Ser421Gly)
|
rs372973014
|
0.00005
|
NM_001330360.2(POLA1):c.169-10A>G
|
rs998607228
|
0.00005
|
NM_001349338.3(FOXP1):c.179A>G (p.Gln60Arg)
|
rs374060287
|
0.00005
|
NM_001363118.2(SLC52A2):c.383C>T (p.Ser128Leu)
|
rs374071862
|
0.00005
|
NM_001382430.1(AKT1):c.570C>T (p.Asp190=)
|
rs780207480
|
0.00005
|
NM_002637.4(PHKA1):c.3364G>C (p.Glu1122Gln)
|
rs202007590
|
0.00005
|
NM_002878.4(RAD51D):c.-126C>T
|
rs781135655
|
0.00005
|
NM_003000.3(SDHB):c.200+7A>G
|
rs371329778
|
0.00005
|
NM_003244.4(TGIF1):c.83C>G (p.Ser28Cys)
|
rs121909066
|
0.00005
|
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys)
|
rs371493232
|
0.00005
|
NM_004606.5(TAF1):c.428C>T (p.Pro143Leu)
|
rs767354861
|
0.00005
|
NM_004700.4(KCNQ4):c.648C>T (p.Arg216=)
|
rs80358269
|
0.00005
|
NM_004933.3(CDH15):c.100del (p.Trp34fs)
|
rs770141326
|
0.00005
|
NM_005027.4(PIK3R2):c.1076G>C (p.Ser359Thr)
|
rs1041937206
|
0.00005
|
NM_006231.4(POLE):c.1735C>T (p.Arg579Cys)
|
rs116260568
|
0.00005
|
NM_006231.4(POLE):c.2645A>G (p.Asn882Ser)
|
rs539312991
|
0.00005
|
NM_006231.4(POLE):c.6668A>G (p.Lys2223Arg)
|
rs367970442
|
0.00005
|
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter)
|
rs201493928
|
0.00005
|
NM_006303.4(AIMP2):c.575-2A>G
|
rs869312968
|
0.00005
|
NM_006506.5(RASA2):c.807A>T (p.Leu269=)
|
rs757160095
|
0.00005
|
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)
|
rs137853007
|
0.00005
|
NM_007294.4(BRCA1):c.301+55G>A
|
rs868735744
|
0.00005
|
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala)
|
rs80356860
|
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_020975.6(RET):c.452A>G (p.Asn151Ser)
|
rs150261092
|
0.00005
|
NM_021625.5(TRPV4):c.1885G>A (p.Ala629Thr)
|
rs200838499
|
0.00005
|
NM_032043.3(BRIP1):c.3567T>C (p.Asp1189=)
|
rs764848326
|
0.00005
|
NM_033337.3(CAV3):c.244G>A (p.Val82Ile)
|
rs112626848
|
0.00005
|
NM_033380.3(COL4A5):c.1871G>A (p.Gly624Asp)
|
rs104886142
|
0.00005
|
NM_152443.3(RDH12):c.278T>C (p.Leu93Pro)
|
rs527800020
|
0.00005
|
NM_172369.5(C1QC):c.100G>A (p.Gly34Arg)
|
rs200206736
|
0.00005
|
NM_173495.3(PTCHD1):c.217C>T (p.Leu73Phe)
|
rs373105249
|
0.00005
|
NM_198994.3(TGM6):c.1528G>C (p.Asp510His)
|
rs201964784
|
0.00005
|
NM_000038.6(APC):c.1762G>A (p.Val588Ile)
|
rs372416031
|
0.00004
|
NM_000038.6(APC):c.2627G>A (p.Arg876Gln)
|
rs373428732
|
0.00004
|
NM_000038.6(APC):c.2948T>C (p.Ile983Thr)
|
rs113674464
|
0.00004
|
NM_000038.6(APC):c.7099A>G (p.Thr2367Ala)
|
rs772778630
|
0.00004
|
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala)
|
rs138137162
|
0.00004
|
NM_000044.6(AR):c.1063G>C (p.Glu355Gln)
|
rs367604031
|
0.00004
|
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys)
|
rs587779816
|
0.00004
|
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter)
|
rs780619951
|
0.00004
|
NM_000051.4(ATM):c.3154-5C>T
|
rs55719759
|
0.00004
|
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu)
|
rs141087784
|
0.00004
|
NM_000051.4(ATM):c.7816A>G (p.Ile2606Val)
|
rs376824528
|
0.00004
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00004
|
NM_000057.4(BLM):c.3556A>G (p.Lys1186Glu)
|
rs750532596
|
0.00004
|
NM_000059.4(BRCA2):c.-41G>A
|
rs879255312
|
0.00004
|
NM_000059.4(BRCA2):c.1181A>C (p.Glu394Ala)
|
rs56016241
|
0.00004
|
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser)
|
rs80358531
|
0.00004
|
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg)
|
rs80358545
|
0.00004
|
NM_000059.4(BRCA2):c.3032C>G (p.Thr1011Arg)
|
rs80358548
|
0.00004
|
NM_000059.4(BRCA2):c.4570T>G (p.Phe1524Val)
|
rs56386506
|
0.00004
|
NM_000059.4(BRCA2):c.5303_5304del (p.Leu1768fs)
|
rs80359505
|
0.00004
|
NM_000059.4(BRCA2):c.6290C>T (p.Thr2097Met)
|
rs80358866
|
0.00004
|
NM_000059.4(BRCA2):c.62A>G (p.Lys21Arg)
|
rs397507367
|
0.00004
|
NM_000059.4(BRCA2):c.7522G>A (p.Gly2508Ser)
|
rs80358978
|
0.00004
|
NM_000059.4(BRCA2):c.8036A>G (p.Asp2679Gly)
|
rs80359041
|
0.00004
|
NM_000059.4(BRCA2):c.8702G>A (p.Gly2901Asp)
|
rs80359129
|
0.00004
|
NM_000059.4(BRCA2):c.8918G>A (p.Arg2973His)
|
rs80359143
|
0.00004
|
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)
|
rs80359212
|
0.00004
|
NM_000059.4(BRCA2):c.9677A>G (p.Tyr3226Cys)
|
rs80359237
|
0.00004
|
NM_000077.5(CDKN2A):c.197A>G (p.His66Arg)
|
rs756750256
|
0.00004
|
NM_000083.3(CLCN1):c.1167-10T>C
|
rs543120965
|
0.00004
|
NM_000083.3(CLCN1):c.2578G>A (p.Val860Ile)
|
rs767209392
|
0.00004
|
NM_000085.5(CLCNKB):c.1309G>A (p.Gly437Arg)
|
rs755714542
|
0.00004
|
NM_000085.5(CLCNKB):c.910C>T (p.Arg304Ter)
|
rs377215024
|
0.00004
|
NM_000092.5(COL4A4):c.2320G>C (p.Gly774Arg)
|
rs569681869
|
0.00004
|
NM_000092.5(COL4A4):c.4394G>A (p.Gly1465Asp)
|
rs533297350
|
0.00004
|
NM_000098.3(CPT2):c.534_539del (p.Leu178_Pro180delinsPhe)
|
rs772240606
|
0.00004
|
NM_000122.2(ERCC3):c.1828-35C>T
|
rs1444307407
|
0.00004
|
NM_000132.4(F8):c.4828G>T (p.Ala1610Ser)
|
rs782127226
|
0.00004
|
NM_000132.4(F8):c.6067G>A (p.Glu2023Lys)
|
rs781886601
|
0.00004
|
NM_000133.4(F9):c.316G>A (p.Gly106Ser)
|
rs137852233
|
0.00004
|
NM_000136.3(FANCC):c.28T>G (p.Cys10Gly)
|
rs147479204
|
0.00004
|
NM_000162.5(GCK):c.836A>G (p.Glu279Gly)
|
rs143484733
|
0.00004
|
NM_000166.6(GJB1):c.677A>G (p.Asn226Ser)
|
rs781312706
|
0.00004
|
NM_000179.3(MSH6):c.107C>T (p.Ala36Val)
|
rs61756469
|
0.00004
|
NM_000179.3(MSH6):c.1661G>A (p.Arg554His)
|
rs730881791
|
0.00004
|
NM_000179.3(MSH6):c.2408A>G (p.Asp803Gly)
|
rs63751450
|
0.00004
|
NM_000179.3(MSH6):c.4004A>C (p.Glu1335Ala)
|
rs564434147
|
0.00004
|
NM_000216.4(ANOS1):c.255+5G>A
|
rs773138384
|
0.00004
|
NM_000237.3(LPL):c.373G>A (p.Ala125Thr)
|
rs199675233
|
0.00004
|
NM_000237.3(LPL):c.662T>C (p.Ile221Thr)
|
rs118204061
|
0.00004
|
NM_000243.3(MEFV):c.1532C>T (p.Ala511Val)
|
rs144270019
|
0.00004
|
NM_000243.3(MEFV):c.501G>C (p.Glu167Asp)
|
rs104895079
|
0.00004
|
NM_000243.3(MEFV):c.775A>G (p.Ile259Val)
|
rs104895144
|
0.00004
|
NM_000245.4(MET):c.2825C>T (p.Ser942Leu)
|
rs375576430
|
0.00004
|
NM_000245.4(MET):c.428G>A (p.Arg143Gln)
|
rs35469582
|
0.00004
|
NM_000249.4(MLH1):c.1270G>A (p.Ala424Thr)
|
rs377433038
|
0.00004
|
NM_000249.4(MLH1):c.1565G>A (p.Arg522Gln)
|
rs63751630
|
0.00004
|
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg)
|
rs140195825
|
0.00004
|
NM_000249.4(MLH1):c.381-43C>G
|
rs368847278
|
0.00004
|
NM_000251.3(MSH2):c.2516A>G (p.His839Arg)
|
rs63750027
|
0.00004
|
NM_000251.3(MSH2):c.287G>A (p.Arg96His)
|
rs63750002
|
0.00004
|
NM_000256.3(MYBPC3):c.104G>A (p.Arg35Gln)
|
rs397515885
|
0.00004
|
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met)
|
rs371488302
|
0.00004
|
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro)
|
rs397516000
|
0.00004
|
NM_000256.3(MYBPC3):c.787G>A (p.Gly263Arg)
|
rs373730381
|
0.00004
|
NM_000256.3(MYBPC3):c.82G>A (p.Val28Met)
|
rs776834755
|
0.00004
|
NM_000260.4(MYO7A):c.1901G>A (p.Arg634Gln)
|
rs781812509
|
0.00004
|
NM_000260.4(MYO7A):c.3508G>A (p.Glu1170Lys)
|
rs111033214
|
0.00004
|
NM_000297.4(PKD2):c.1444T>G (p.Phe482Val)
|
rs201504575
|
0.00004
|
NM_000321.3(RB1):c.1814+11T>C
|
rs771369373
|
0.00004
|
NM_000330.4(RS1):c.522+5G>A
|
rs200074383
|
0.00004
|
NM_000335.5(SCN5A):c.1652C>T (p.Ala551Val)
|
rs201641342
|
0.00004
|
NM_000335.5(SCN5A):c.569G>A (p.Arg190Gln)
|
rs199473069
|
0.00004
|
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val)
|
rs199473561
|
0.00004
|
NM_000338.3(SLC12A1):c.905G>A (p.Arg302Gln)
|
rs747229048
|
0.00004
|
NM_000352.6(ABCC8):c.2041-21G>A
|
rs746714109
|
0.00004
|
NM_000358.3(TGFBI):c.367G>C (p.Asp123His)
|
rs541270955
|
0.00004
|
NM_000371.4(TTR):c.262A>T (p.Ile88Leu)
|
rs121918085
|
0.00004
|
NM_000376.3(VDR):c.217C>T (p.Arg73Ter)
|
rs980041568
|
0.00004
|
NM_000376.3(VDR):c.218G>A (p.Arg73Gln)
|
rs121909791
|
0.00004
|
NM_000398.7(CYB5R3):c.464-2A>C
|
rs794728013
|
0.00004
|
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys)
|
rs137852339
|
0.00004
|
NM_000402.4(G6PD):c.583A>G (p.Asn195Asp)
|
rs137852331
|
0.00004
|
NM_000443.4(ABCB4):c.2217T>G (p.Phe739Leu)
|
rs143456575
|
0.00004
|
NM_000444.6(PHEX):c.1359A>C (p.Glu453Asp)
|
rs202164519
|
0.00004
|
NM_000447.3(PSEN2):c.505C>A (p.His169Asn)
|
rs533813519
|
0.00004
|
NM_000451.4(SHOX):c.190G>C (p.Gly64Arg)
|
rs371578837
|
0.00004
|
NM_000451.4(SHOX):c.56G>A (p.Gly19Asp)
|
rs748023493
|
0.00004
|
NM_000455.5(STK11):c.-167C>T
|
rs1273032629
|
0.00004
|
NM_000455.5(STK11):c.613G>A (p.Ala205Thr)
|
rs730881981
|
0.00004
|
NM_000455.5(STK11):c.795G>A (p.Glu265=)
|
rs730881963
|
0.00004
|
NM_000465.4(BARD1):c.160A>G (p.Thr54Ala)
|
rs200254470
|
0.00004
|
NM_000465.4(BARD1):c.2291T>C (p.Ile764Thr)
|
rs587780030
|
0.00004
|
NM_000465.4(BARD1):c.353A>G (p.Asn118Ser)
|
rs142864491
|
0.00004
|
NM_000478.6(ALPL):c.529G>A (p.Ala177Thr)
|
rs199669988
|
0.00004
|
NM_000492.4(CFTR):c.1766+1G>A
|
rs121908748
|
0.00004
|
NM_000492.4(CFTR):c.200C>T (p.Pro67Leu)
|
rs368505753
|
0.00004
|
NM_000492.4(CFTR):c.2375G>A (p.Arg792Gln)
|
rs369040061
|
0.00004
|
NM_000492.4(CFTR):c.2834C>T (p.Ser945Leu)
|
rs397508442
|
0.00004
|
NM_000492.4(CFTR):c.3169A>G (p.Thr1057Ala)
|
rs397508511
|
0.00004
|
NM_000492.4(CFTR):c.3468G>T (p.Leu1156Phe)
|
rs139729994
|
0.00004
|
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter)
|
rs74767530
|
0.00004
|
NM_000492.4(CFTR):c.579+1G>T
|
rs77188391
|
0.00004
|
NM_000497.4(CYP11B1):c.956C>T (p.Thr319Met)
|
rs104894068
|
0.00004
|
NM_000500.9(CYP21A2):c.1273G>A (p.Gly425Ser)
|
rs72552758
|
0.00004
|
NM_000520.6(HEXA):c.1496G>A (p.Arg499His)
|
rs121907956
|
0.00004
|
NM_000527.5(LDLR):c.1359-5C>G
|
rs531005522
|
0.00004
|
NM_000527.5(LDLR):c.2072C>T (p.Ser691Leu)
|
rs369943481
|
0.00004
|
NM_000527.5(LDLR):c.940G>A (p.Gly314Arg)
|
rs72658858
|
0.00004
|
NM_000535.7(PMS2):c.1211C>G (p.Pro404Arg)
|
rs536111818
|
0.00004
|
NM_000535.7(PMS2):c.1501G>A (p.Val501Met)
|
rs540287433
|
0.00004
|
NM_000535.7(PMS2):c.2347G>A (p.Val783Ile)
|
rs553286217
|
0.00004
|
NM_000535.7(PMS2):c.475G>A (p.Val159Met)
|
rs142416537
|
0.00004
|
NM_000535.7(PMS2):c.611A>G (p.Asn204Ser)
|
rs777903002
|
0.00004
|
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)
|
rs377178986
|
0.00004
|
NM_000540.3(RYR1):c.13934G>A (p.Arg4645Gln)
|
rs193922860
|
0.00004
|
NM_000540.3(RYR1):c.6671G>A (p.Arg2224His)
|
rs537994744
|
0.00004
|
NM_000546.6(TP53):c.1096T>G (p.Ser366Ala)
|
rs17881470
|
0.00004
|
NM_000546.6(TP53):c.1149C>T (p.Leu383=)
|
rs373710656
|
0.00004
|
NM_000546.6(TP53):c.28G>A (p.Val10Ile)
|
rs535274413
|
0.00004
|
NM_000546.6(TP53):c.91G>A (p.Val31Ile)
|
rs201753350
|
0.00004
|
NM_000548.5(TSC2):c.292C>T (p.Arg98Trp)
|
rs372321790
|
0.00004
|
NM_000551.4(VHL):c.556G>A (p.Glu186Lys)
|
rs367545984
|
0.00004
|
NM_000553.6(WRN):c.3437C>T (p.Ser1146Leu)
|
rs779264260
|
0.00004
|
NM_000553.6(WRN):c.3881C>T (p.Ala1294Val)
|
rs146861737
|
0.00004
|
NM_000784.4(CYP27A1):c.562C>T (p.Arg188Ter)
|
rs188850202
|
0.00004
|
NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser)
|
rs543320028
|
0.00004
|
NM_001012338.3(NTRK3):c.278C>T (p.Thr93Met)
|
rs147992979
|
0.00004
|
NM_001031710.3(KLHL7):c.793+5G>C
|
rs375718274
|
0.00004
|
NM_001044385.3(TMEM237):c.1024A>G (p.Asn342Asp)
|
rs372686071
|
0.00004
|
NM_001048174.2(MUTYH):c.1463C>T (p.Pro488Leu)
|
rs587778542
|
0.00004
|
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)
|
rs765123255
|
0.00004
|
NM_001048174.2(MUTYH):c.305-1G>C
|
rs372267274
|
0.00004
|
NM_001048174.2(MUTYH):c.421-2A>C
|
rs786203161
|
0.00004
|
NM_001048174.2(MUTYH):c.523C>T (p.Arg175Cys)
|
rs587780748
|
0.00004
|
NM_001048174.2(MUTYH):c.631G>A (p.Val211Ile)
|
rs759295912
|
0.00004
|
NM_001098816.3(TENM4):c.3412G>A (p.Val1138Met)
|
rs538881762
|
0.00004
|
NM_001122772.3(AGAP2):c.629T>A (p.Leu210Gln)
|
rs996446379
|
0.00004
|
NM_001123385.2(BCOR):c.4292C>A (p.Ser1431Tyr)
|
rs369432845
|
0.00004
|
NM_001127222.2(CACNA1A):c.6601C>T (p.Arg2201Trp)
|
rs1032588483
|
0.00004
|
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro)
|
rs28931569
|
0.00004
|
NM_001130438.3(SPTAN1):c.2224C>T (p.Arg742Cys)
|
rs780658554
|
0.00004
|
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile)
|
rs587780353
|
0.00004
|
NM_001159773.2(CANT1):c.676G>A (p.Val226Met)
|
rs377546036
|
0.00004
|
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu)
|
rs372425457
|
0.00004
|
NM_001171.6(ABCC6):c.4069C>T (p.Arg1357Trp)
|
rs63750428
|
0.00004
|
NM_001202.6(BMP4):c.485G>A (p.Arg162Gln)
|
rs770493925
|
0.00004
|
NM_001253852.3(AP4B1):c.1557T>A (p.Tyr519Ter)
|
rs529495094
|
0.00004
|
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys)
|
rs112735431
|
0.00004
|
NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn)
|
rs140313320
|
0.00004
|
NM_001332.4(CTNND2):c.2137C>T (p.Arg713Cys)
|
rs768575356
|
0.00004
|
NM_001364905.1(LRBA):c.5906G>C (p.Gly1969Ala)
|
rs745608560
|
0.00004
|
NM_001370259.2(MEN1):c.1594G>T (p.Gly532Cys)
|
rs587780843
|
0.00004
|
NM_001371904.1(APOA5):c.823C>T (p.Gln275Ter)
|
rs149808404
|
0.00004
|
NM_001371904.1(APOA5):c.865C>T (p.Arg289Cys)
|
rs755003082
|
0.00004
|
NM_001374828.1(ARID1B):c.5851G>A (p.Glu1951Lys)
|
rs1451259945
|
0.00004
|
NM_001377.3(DYNC2H1):c.7442G>A (p.Arg2481Gln)
|
rs781326398
|
0.00004
|
NM_001382430.1(AKT1):c.1390G>A (p.Glu464Lys)
|
rs745803788
|
0.00004
|
NM_001918.5(DBT):c.1018-550A>G
|
rs796052135
|
0.00004
|
NM_002016.2(FLG):c.10969C>T (p.Arg3657Ter)
|
rs749083759
|
0.00004
|
NM_002016.2(FLG):c.7031C>G (p.Ser2344Ter)
|
rs372754256
|
0.00004
|
NM_002485.5(NBN):c.803C>T (p.Thr268Met)
|
rs535602436
|
0.00004
|
NM_002529.4(NTRK1):c.355C>T (p.Arg119Cys)
|
rs757031354
|
0.00004
|
NM_002582.4(PARN):c.692A>G (p.Glu231Gly)
|
rs757910862
|
0.00004
|
NM_002691.4(POLD1):c.1383+8C>T
|
rs374719944
|
0.00004
|
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter)
|
rs587780104
|
0.00004
|
NM_002878.4(RAD51D):c.793G>A (p.Gly265Arg)
|
rs140285068
|
0.00004
|
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys)
|
rs587781813
|
0.00004
|
NM_002878.4(RAD51D):c.839C>G (p.Thr280Ser)
|
rs548111162
|
0.00004
|
NM_002905.5(RDH5):c.469C>T (p.Arg157Trp)
|
rs104894374
|
0.00004
|
NM_002907.4(RECQL):c.1781C>T (p.Thr594Met)
|
rs372947261
|
0.00004
|
NM_002907.4(RECQL):c.426del (p.Met144fs)
|
rs753723230
|
0.00004
|
NM_002907.4(RECQL):c.796C>T (p.Gln266Ter)
|
rs572725483
|
0.00004
|
NM_003000.3(SDHB):c.307A>G (p.Met103Val)
|
rs140178341
|
0.00004
|
NM_003244.4(TGIF1):c.451A>G (p.Thr151Ala)
|
rs121909068
|
0.00004
|
NM_003384.3(VRK1):c.452G>A (p.Arg151Gln)
|
rs536881543
|
0.00004
|
NM_003482.4(KMT2D):c.13259G>A (p.Arg4420Gln)
|
rs375999143
|
0.00004
|
NM_003620.4(PPM1D):c.1654C>T (p.Arg552Ter)
|
rs779070661
|
0.00004
|
NM_004092.4(ECHS1):c.5C>T (p.Ala2Val)
|
rs587776498
|
0.00004
|
NM_004211.5(SLC6A5):c.2114A>G (p.Tyr705Cys)
|
rs143918578
|
0.00004
|
NM_004304.5(ALK):c.3363T>A (p.Gly1121=)
|
rs201767904
|
0.00004
|
NM_004360.5(CDH1):c.2387G>A (p.Arg796Gln)
|
rs587782549
|
0.00004
|
NM_004360.5(CDH1):c.2494G>A (p.Val832Met)
|
rs35572355
|
0.00004
|
NM_004360.5(CDH1):c.375C>A (p.Pro125=)
|
rs773044699
|
0.00004
|
NM_004380.3(CREBBP):c.4837G>A (p.Val1613Met)
|
rs766085073
|
0.00004
|
NM_004629.2(FANCG):c.992C>G (p.Pro331Arg)
|
rs765722724
|
0.00004
|
NM_004655.4(AXIN2):c.2083G>T (p.Ala695Ser)
|
rs140510381
|
0.00004
|
NM_004656.4(BAP1):c.206C>T (p.Thr69Met)
|
rs572063023
|
0.00004
|
NM_005228.5(EGFR):c.2710G>A (p.Val904Ile)
|
rs538497054
|
0.00004
|
NM_005228.5(EGFR):c.731G>A (p.Arg244Gln)
|
rs200664836
|
0.00004
|
NM_005228.5(EGFR):c.739G>A (p.Asp247Asn)
|
rs780001754
|
0.00004
|
NM_005263.5(GFI1):c.1208A>G (p.Lys403Arg)
|
rs28936382
|
0.00004
|
NM_005429.5(VEGFC):c.172G>A (p.Glu58Lys)
|
rs200219952
|
0.00004
|
NM_005431.2(XRCC2):c.581C>T (p.Thr194Met)
|
rs775565256
|
0.00004
|
NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter)
|
rs587781384
|
0.00004
|
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln)
|
rs371314838
|
0.00004
|
NM_005994.4(TBX2):c.59G>A (p.Arg20Gln)
|
rs1364709483
|
0.00004
|
NM_006186.4(NR4A2):c.308A>G (p.His103Arg)
|
rs199674295
|
0.00004
|
NM_006231.4(POLE):c.3939G>A (p.Thr1313=)
|
rs150282789
|
0.00004
|
NM_006231.4(POLE):c.4150-6C>T
|
rs756837862
|
0.00004
|
NM_006231.4(POLE):c.4307G>A (p.Arg1436Gln)
|
rs754518522
|
0.00004
|
NM_006231.4(POLE):c.4343A>G (p.Asn1448Ser)
|
rs150545516
|
0.00004
|
NM_006231.4(POLE):c.6445C>T (p.Arg2149Cys)
|
rs771490182
|
0.00004
|
NM_006269.2(RP1):c.1625C>G (p.Ser542Ter)
|
rs779334655
|
0.00004
|
NM_006343.3(MERTK):c.2189+1G>T
|
rs371956016
|
0.00004
|
NM_007144.3(PCGF2):c.265+8C>T
|
rs767116828
|
0.00004
|
NM_007194.4(CHEK2):c.1423T>A (p.Phe475Ile)
|
rs370968992
|
0.00004
|
NM_007194.4(CHEK2):c.400G>C (p.Asp134His)
|
rs372874441
|
0.00004
|
NM_007194.4(CHEK2):c.593-55G>A
|
rs17879915
|
0.00004
|
NM_007194.4(CHEK2):c.910A>G (p.Met304Val)
|
rs769436449
|
0.00004
|
NM_007194.4(CHEK2):c.962A>C (p.Glu321Ala)
|
rs374395284
|
0.00004
|
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His)
|
rs56272539
|
0.00004
|
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)
|
rs28897672
|
0.00004
|
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser)
|
rs273898682
|
0.00004
|
NM_007294.4(BRCA1):c.3143G>A (p.Gly1048Asp)
|
rs80356899
|
0.00004
|
NM_007294.4(BRCA1):c.4261C>T (p.His1421Tyr)
|
rs80357013
|
0.00004
|
NM_007294.4(BRCA1):c.4729T>C (p.Ser1577Pro)
|
rs80356909
|
0.00004
|
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln)
|
rs80357442
|
0.00004
|
NM_007294.4(BRCA1):c.81-11del
|
rs273902788
|
0.00004
|
NM_014043.4(CHMP2B):c.248C>T (p.Thr83Ile)
|
rs374277596
|
0.00004
|
NM_014324.6(AMACR):c.857del (p.Ile286fs)
|
rs772921347
|
0.00004
|
NM_014588.6(VSX1):c.452A>G (p.Asn151Ser)
|
rs201716527
|
0.00004
|
NM_014845.6(FIG4):c.262C>T (p.Arg88Ter)
|
rs753207473
|
0.00004
|
NM_016204.4(GDF2):c.801G>T (p.Glu267Asp)
|
rs782573337
|
0.00004
|
NM_016729.3(FOLR1):c.373C>T (p.Arg125Cys)
|
rs752503322
|
0.00004
|
NM_017547.4(FOXRED1):c.1190C>G (p.Ala397Gly)
|
rs201727988
|
0.00004
|
NM_017739.4(POMGNT1):c.208G>A (p.Glu70Lys)
|
rs201361648
|
0.00004
|
NM_018662.3(DISC1):c.109C>T (p.Arg37Trp)
|
rs202102981
|
0.00004
|
NM_019594.4(LRRC8A):c.1586C>T (p.Ala529Val)
|
rs150164316
|
0.00004
|
NM_020320.5(RARS2):c.1257C>A (p.Asn419Lys)
|
rs751904499
|
0.00004
|
NM_020320.5(RARS2):c.422A>G (p.His141Arg)
|
rs377591456
|
0.00004
|
NM_020632.3(ATP6V0A4):c.1249G>A (p.Val417Met)
|
rs530406140
|
0.00004
|
NM_020937.4(FANCM):c.3938G>C (p.Ser1313Thr)
|
rs771311008
|
0.00004
|
NM_020975.6(RET):c.1118C>T (p.Ala373Val)
|
rs546866208
|
0.00004
|
NM_020975.6(RET):c.1423C>T (p.Arg475Trp)
|
rs746512075
|
0.00004
|
NM_020975.6(RET):c.1438G>A (p.Glu480Lys)
|
rs537874538
|
0.00004
|
NM_020975.6(RET):c.2371T>A (p.Tyr791Asn)
|
rs377767417
|
0.00004
|
NM_020975.6(RET):c.2931C>G (p.Ser977Arg)
|
rs375414982
|
0.00004
|
NM_020989.4(CRYGC):c.502C>T (p.Arg168Trp)
|
rs28931604
|
0.00004
|
NM_022788.5(P2RY12):c.767G>A (p.Arg256Gln)
|
rs121917885
|
0.00004
|
NM_022914.2(ACD):c.137delG (p.Arg46Leufs)
|
rs753666055
|
0.00004
|
NM_024675.4(PALB2):c.100C>T (p.Arg34Cys)
|
rs373483056
|
0.00004
|
NM_024675.4(PALB2):c.13C>T (p.Pro5Ser)
|
rs377085677
|
0.00004
|
NM_024675.4(PALB2):c.1861C>A (p.Pro621Thr)
|
rs756116550
|
0.00004
|
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu)
|
rs62625272
|
0.00004
|
NM_024675.4(PALB2):c.2608G>A (p.Val870Ile)
|
rs376641234
|
0.00004
|
NM_032043.3(BRIP1):c.2563C>T (p.Arg855Cys)
|
rs146031731
|
0.00004
|
NM_032043.3(BRIP1):c.2593C>T (p.Arg865Trp)
|
rs578022079
|
0.00004
|
NM_032043.3(BRIP1):c.3523A>G (p.Thr1175Ala)
|
rs372799558
|
0.00004
|
NM_032043.3(BRIP1):c.415T>G (p.Ser139Ala)
|
rs202072866
|
0.00004
|
NM_138694.4(PKHD1):c.3467C>T (p.Ser1156Leu)
|
rs367707903
|
0.00004
|
NM_144773.4(PROKR2):c.308C>T (p.Ala103Val)
|
rs775634673
|
0.00004
|
NM_144773.4(PROKR2):c.337T>C (p.Tyr113His)
|
rs202203360
|
0.00004
|
NM_145292.4(GALNTL5):c.764del (p.Leu255fs)
|
rs745743096
|
0.00004
|
NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)
|
rs28940315
|
0.00004
|
NM_153682.3(PIGP):c.2T>C (p.Met1Thr)
|
rs768633670
|
0.00004
|
NM_153704.6(TMEM67):c.2848G>A (p.Val950Met)
|
rs771551765
|
0.00004
|
NM_174936.4(PCSK9):c.1228G>A (p.Glu410Lys)
|
rs746085210
|
0.00004
|
NM_174936.4(PCSK9):c.1399C>G (p.Pro467Ala)
|
rs772677312
|
0.00004
|
NM_181336.4(LEMD2):c.335C>T (p.Ala112Val)
|
rs149584596
|
0.00004
|
NM_198859.4(PRICKLE2):c.1813G>T (p.Val605Phe)
|
rs387906989
|
0.00004
|
NC_000001.11:g.91022191G>T
|
rs1250305120
|
0.00003
|
NM_000022.4(ADA):c.715G>A (p.Gly239Ser)
|
rs777820729
|
0.00003
|
NM_000038.6(APC):c.1966C>G (p.Leu656Val)
|
rs577466163
|
0.00003
|
NM_000038.6(APC):c.3205A>G (p.Arg1069Gly)
|
rs375408871
|
0.00003
|
NM_000038.6(APC):c.3529A>G (p.Ile1177Val)
|
rs369834416
|
0.00003
|
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys)
|
rs754691867
|
0.00003
|
NM_000038.6(APC):c.647G>A (p.Arg216Gln)
|
rs76685252
|
0.00003
|
NM_000038.6(APC):c.757G>A (p.Gly253Ser)
|
rs772806807
|
0.00003
|
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr)
|
rs369264968
|
0.00003
|
NM_000038.6(APC):c.848G>A (p.Arg283Gln)
|
rs149154604
|
0.00003
|
NM_000044.6(AR):c.1208C>T (p.Ala403Val)
|
rs772490323
|
0.00003
|
NM_000051.4(ATM):c.2735A>G (p.Gln912Arg)
|
rs730881353
|
0.00003
|
NM_000051.4(ATM):c.3693_3695del (p.Leu1231_Ser1232delinsPhe)
|
rs786203389
|
0.00003
|
NM_000051.4(ATM):c.395C>T (p.Ser132Phe)
|
rs750969764
|
0.00003
|
NM_000051.4(ATM):c.4910-248T>C
|
rs550591525
|
0.00003
|
NM_000051.4(ATM):c.5189G>A (p.Arg1730Gln)
|
rs373789346
|
0.00003
|
NM_000051.4(ATM):c.5917A>G (p.Arg1973Gly)
|
rs786202089
|
0.00003
|
NM_000051.4(ATM):c.6554T>C (p.Ile2185Thr)
|
rs779611511
|
0.00003
|
NM_000051.4(ATM):c.8246A>T (p.Lys2749Ile)
|
rs779145081
|
0.00003
|
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs)
|
rs730881294
|
0.00003
|
NM_000057.4(BLM):c.2106T>A (p.Pro702=)
|
rs529421306
|
0.00003
|
NM_000057.4(BLM):c.2210_2211insA (p.Thr738fs)
|
rs758886088
|
0.00003
|
NM_000057.4(BLM):c.2212_2213insTTC (p.Thr738delinsIlePro)
|
rs780538610
|
0.00003
|
NM_000057.4(BLM):c.2594A>G (p.Tyr865Cys)
|
rs777842626
|
0.00003
|
NM_000059.4(BRCA2):c.*15G>A
|
rs376501142
|
0.00003
|
NM_000059.4(BRCA2):c.1012G>A (p.Ala338Thr)
|
rs80358396
|
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.1793C>T (p.Thr598Ile)
|
rs80358462
|
0.00003
|
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp)
|
rs28897721
|
0.00003
|
NM_000059.4(BRCA2):c.3682A>G (p.Asn1228Asp)
|
rs28897722
|
0.00003
|
NM_000059.4(BRCA2):c.3910A>G (p.Thr1304Ala)
|
rs28897723
|
0.00003
|
NM_000059.4(BRCA2):c.4670C>G (p.Thr1557Ser)
|
rs80358698
|
0.00003
|
NM_000059.4(BRCA2):c.5164A>T (p.Ser1722Cys)
|
rs80358741
|
0.00003
|
NM_000059.4(BRCA2):c.5228G>A (p.Ser1743Asn)
|
rs587782714
|
0.00003
|
NM_000059.4(BRCA2):c.5634C>G (p.Asn1878Lys)
|
rs80358784
|
0.00003
|
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val)
|
rs80358916
|
0.00003
|
NM_000059.4(BRCA2):c.7565C>T (p.Ser2522Phe)
|
rs80358985
|
0.00003
|
NM_000059.4(BRCA2):c.9078G>C (p.Gln3026His)
|
rs1359207910
|
0.00003
|
NM_000059.4(BRCA2):c.9086C>T (p.Ala3029Val)
|
rs80359162
|
0.00003
|
NM_000059.4(BRCA2):c.9271G>A (p.Val3091Ile)
|
rs80359194
|
0.00003
|
NM_000059.4(BRCA2):c.9458G>C (p.Gly3153Ala)
|
rs80359220
|
0.00003
|
NM_000059.4(BRCA2):c.9820T>G (p.Leu3274Val)
|
rs80359244
|
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_000090.4(COL3A1):c.724C>T (p.Arg242Ter)
|
rs1333421028
|
0.00003
|
NM_000103.4(CYP19A1):c.242A>G (p.Tyr81Cys)
|
rs199845027
|
0.00003
|
NM_000128.4(F11):c.1489C>T (p.Arg497Ter)
|
rs375422404
|
0.00003
|
NM_000132.4(F8):c.4099A>T (p.Thr1367Ser)
|
rs781812149
|
0.00003
|
NM_000132.4(F8):c.5144G>A (p.Arg1715Gln)
|
rs781876217
|
0.00003
|
NM_000132.4(F8):c.5806C>T (p.Arg1936Cys)
|
rs781792644
|
0.00003
|
NM_000132.4(F8):c.733C>T (p.Arg245Trp)
|
rs781943956
|
0.00003
|
NM_000136.3(FANCC):c.127G>A (p.Glu43Lys)
|
rs374836770
|
0.00003
|
NM_000136.3(FANCC):c.1363G>T (p.Ala455Ser)
|
rs730881724
|
0.00003
|
NM_000151.4(G6PC1):c.508C>T (p.Arg170Ter)
|
rs373345919
|
0.00003
|
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr)
|
rs567564095
|
0.00003
|
NM_000166.6(GJB1):c.689G>T (p.Arg230Leu)
|
rs780335726
|
0.00003
|
NM_000179.3(MSH6):c.1696G>A (p.Gly566Arg)
|
rs63749973
|
0.00003
|
NM_000179.3(MSH6):c.2161A>G (p.Arg721Gly)
|
rs537604099
|
0.00003
|
NM_000179.3(MSH6):c.3100C>T (p.Arg1034Trp)
|
rs587779930
|
0.00003
|
NM_000179.3(MSH6):c.359T>C (p.Ile120Thr)
|
rs775971872
|
0.00003
|
NM_000179.3(MSH6):c.532C>T (p.Arg178Cys)
|
rs730881813
|
0.00003
|
NM_000179.3(MSH6):c.627+9C>T
|
rs373155872
|
0.00003
|
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His)
|
rs199473011
|
0.00003
|
NM_000238.4(KCNH2):c.3224C>T (p.Pro1075Leu)
|
rs199473028
|
0.00003
|
NM_000243.3(MEFV):c.2110G>A (p.Val704Ile)
|
rs104895096
|
0.00003
|
NM_000243.3(MEFV):c.2164G>A (p.Val722Met)
|
rs104895201
|
0.00003
|
NM_000245.4(MET):c.3356G>C (p.Gly1119Ala)
|
rs201037977
|
0.00003
|
NM_000245.4(MET):c.4100C>G (p.Ser1367Cys)
|
rs747239403
|
0.00003
|
NM_000249.4(MLH1):c.1514G>A (p.Ser505Asn)
|
rs771044689
|
0.00003
|
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser)
|
rs63750952
|
0.00003
|
NM_000249.4(MLH1):c.644A>G (p.Asn215Ser)
|
rs267607775
|
0.00003
|
NM_000249.4(MLH1):c.884+15A>G
|
rs372817491
|
0.00003
|
NM_000249.4(MLH1):c.94A>G (p.Ile32Val)
|
rs2020872
|
0.00003
|
NM_000251.3(MSH2):c.14C>A (p.Pro5Gln)
|
rs56170584
|
0.00003
|
NM_000251.3(MSH2):c.157G>T (p.Ala53Ser)
|
rs755931648
|
0.00003
|
NM_000251.3(MSH2):c.1724A>G (p.Asp575Gly)
|
rs370330868
|
0.00003
|
NM_000251.3(MSH2):c.1847C>G (p.Pro616Arg)
|
rs587779965
|
0.00003
|
NM_000256.3(MYBPC3):c.2198G>A (p.Arg733His)
|
rs534345197
|
0.00003
|
NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn)
|
rs375471260
|
0.00003
|
NM_000256.3(MYBPC3):c.305C>T (p.Pro102Leu)
|
rs730880610
|
0.00003
|
NM_000256.3(MYBPC3):c.3343G>A (p.Val1115Ile)
|
rs531189495
|
0.00003
|
NM_000256.3(MYBPC3):c.994G>A (p.Glu332Lys)
|
rs397516086
|
0.00003
|
NM_000260.4(MYO7A):c.3659C>T (p.Pro1220Leu)
|
rs727504710
|
0.00003
|
NM_000266.4(NDP):c.58G>A (p.Gly20Arg)
|
rs200594881
|
0.00003
|
NM_000277.3(PAH):c.168+5G>C
|
rs62507288
|
0.00003
|
NM_000314.8(PTEN):c.-799G>C
|
rs587779992
|
0.00003
|
NM_000335.5(SCN5A):c.1577G>A (p.Arg526His)
|
rs45627438
|
0.00003
|
NM_000335.5(SCN5A):c.1663G>A (p.Glu555Lys)
|
rs199473123
|
0.00003
|
NM_000335.5(SCN5A):c.3206C>T (p.Thr1069Met)
|
rs199473187
|
0.00003
|
NM_000335.5(SCN5A):c.3401G>T (p.Ser1134Ile)
|
rs557957405
|
0.00003
|
NM_000335.5(SCN5A):c.4279G>T (p.Ala1427Ser)
|
rs200034939
|
0.00003
|
NM_000350.3(ABCA4):c.4328G>A (p.Arg1443His)
|
rs61750142
|
0.00003
|
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp)
|
rs61751406
|
0.00003
|
NM_000352.6(ABCC8):c.4051G>A (p.Val1351Met)
|
rs149331388
|
0.00003
|
NM_000368.5(TSC1):c.-144G>A
|
rs796053468
|
0.00003
|
NM_000372.5(TYR):c.1064C>T (p.Ala355Val)
|
rs151206295
|
0.00003
|
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)
|
rs5030869
|
0.00003
|
NM_000402.4(G6PD):c.1114C>T (p.Leu372Phe)
|
rs137852342
|
0.00003
|
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys)
|
rs137852330
|
0.00003
|
NM_000417.3(IL2RA):c.100G>A (p.Ala34Thr)
|
rs773957702
|
0.00003
|
NM_000426.4(LAMA2):c.3085C>T (p.Arg1029Ter)
|
rs145420388
|
0.00003
|
NM_000441.2(SLC26A4):c.929C>T (p.Ala310Val)
|
rs540008835
|
0.00003
|
NM_000451.4(SHOX):c.336G>C (p.Gln112His)
|
rs779090116
|
0.00003
|
NM_000451.4(SHOX):c.543A>C (p.Lys181Asn)
|
rs202144835
|
0.00003
|
NM_000455.5(STK11):c.374+9T>A
|
rs762297795
|
0.00003
|
NM_000455.5(STK11):c.911G>A (p.Arg304Gln)
|
rs376280361
|
0.00003
|
NM_000463.3(UGT1A1):c.835A>T (p.Asn279Tyr)
|
rs397978903
|
0.00003
|
NM_000465.4(BARD1):c.1028C>T (p.Thr343Ile)
|
rs201032007
|
0.00003
|
NM_000465.4(BARD1):c.1247T>G (p.Leu416Arg)
|
rs878853996
|
0.00003
|
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter)
|
rs587780021
|
0.00003
|
NM_000465.4(BARD1):c.1904-485A>G
|
rs571154441
|
0.00003
|
NM_000465.4(BARD1):c.1904-629C>T
|
rs1266026461
|
0.00003
|
NM_000465.4(BARD1):c.1915T>C (p.Cys639Arg)
|
rs587781376
|
0.00003
|
NM_000465.4(BARD1):c.77T>G (p.Met26Arg)
|
rs759957629
|
0.00003
|
NM_000492.4(CFTR):c.1040G>A (p.Arg347His)
|
rs77932196
|
0.00003
|
NM_000492.4(CFTR):c.1117G>A (p.Asp373Asn)
|
rs556880586
|
0.00003
|
NM_000492.4(CFTR):c.1397C>G (p.Ser466Ter)
|
rs121908805
|
0.00003
|
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu)
|
rs193922501
|
0.00003
|
NM_000492.4(CFTR):c.1680-886A>G
|
rs397508266
|
0.00003
|
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly)
|
rs201124247
|
0.00003
|
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter)
|
rs149790377
|
0.00003
|
NM_000492.4(CFTR):c.2758G>A (p.Val920Met)
|
rs373885282
|
0.00003
|
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp)
|
rs202179988
|
0.00003
|
NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter)
|
rs121908761
|
0.00003
|
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=)
|
rs139729994
|
0.00003
|
NM_000493.4(COL10A1):c.772C>T (p.Arg258Ter)
|
rs765628474
|
0.00003
|
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)
|
rs730882109
|
0.00003
|
NM_000527.5(LDLR):c.2375T>C (p.Ile792Thr)
|
rs764493597
|
0.00003
|
NM_000527.5(LDLR):c.292G>A (p.Gly98Ser)
|
rs750474121
|
0.00003
|
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys)
|
rs368657165
|
0.00003
|
NM_000535.7(PMS2):c.917T>C (p.Val306Ala)
|
rs786201878
|
0.00003
|
NM_000540.3(RYR1):c.13505A>G (p.Glu4502Gly)
|
rs139647387
|
0.00003
|
NM_000545.8(HNF1A):c.1522G>A (p.Glu508Lys)
|
rs483353044
|
0.00003
|
NM_000546.6(TP53):c.467G>A (p.Arg156His)
|
rs371524413
|
0.00003
|
NM_000548.5(TSC2):c.538C>G (p.Leu180Val)
|
rs45485591
|
0.00003
|
NM_000639.3(FASLG):c.51C>A (p.Ser17Arg)
|
rs1051257078
|
0.00003
|
NM_000719.7(CACNA1C):c.4289A>C (p.Lys1430Thr)
|
rs759934820
|
0.00003
|
NM_000719.7(CACNA1C):c.5731G>C (p.Gly1911Arg)
|
rs374528680
|
0.00003
|
NM_000784.4(CYP27A1):c.1421G>A (p.Arg474Gln)
|
rs121908097
|
0.00003
|
NM_001003800.2(BICD2):c.1079C>T (p.Ala360Val)
|
rs587777884
|
0.00003
|
NM_001009944.3(PKD1):c.3496G>A (p.Gly1166Ser)
|
rs573566419
|
0.00003
|
NM_001012720.2(RGR):c.700G>A (p.Ala234Thr)
|
rs377043137
|
0.00003
|
NM_001035.3(RYR2):c.7493C>T (p.Ala2498Val)
|
rs374191985
|
0.00003
|
NM_001041.4(SI):c.4427G>C (p.Gly1476Ala)
|
rs758043919
|
0.00003
|
NM_001042492.3(NF1):c.169G>A (p.Gly57Ser)
|
rs779727341
|
0.00003
|
NM_001048174.2(MUTYH):c.14G>A (p.Arg5Gln)
|
rs587780081
|
0.00003
|
NM_001048174.2(MUTYH):c.395A>G (p.Gln132Arg)
|
rs1212933615
|
0.00003
|
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val)
|
rs2808001
|
0.00003
|
NM_001082971.2(DDC):c.1040G>A (p.Arg347Gln)
|
rs201951824
|
0.00003
|
NM_001083614.2(EARS2):c.1098G>C (p.Glu366Asp)
|
rs746186859
|
0.00003
|
NM_001083614.2(EARS2):c.1243G>A (p.Asp415Asn)
|
rs763888954
|
0.00003
|
NM_001113525.2(ZNF276):c.*354G>A
|
rs370357192
|
0.00003
|
NM_001128425.2(MUTYH):c.36+179G>T
|
rs1418696430
|
0.00003
|
NM_001134363.3(RBM20):c.1603G>A (p.Val535Ile)
|
rs183007628
|
0.00003
|
NM_001134407.3(GRIN2A):c.1510C>T (p.Arg504Trp)
|
rs1360906241
|
0.00003
|
NM_001135146.2(SLC39A8):c.1283C>T (p.Thr428Ile)
|
rs142863074
|
0.00003
|
NM_001135651.3(EIF2AK2):c.891T>C (p.Arg297=)
|
rs779362072
|
0.00003
|
NM_001139.3(ALOX12B):c.1156C>T (p.Arg386Cys)
|
rs750066836
|
0.00003
|
NM_001142800.2(EYS):c.4120C>T (p.Arg1374Ter)
|
rs928803207
|
0.00003
|
NM_001142800.2(EYS):c.8236G>T (p.Asp2746Tyr)
|
rs1349879153
|
0.00003
|
NM_001142800.2(EYS):c.8411dup (p.Thr2805fs)
|
rs763028732
|
0.00003
|
NM_001142800.2(EYS):c.9019G>T (p.Asp3007Tyr)
|
rs888739369
|
0.00003
|
NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs)
|
rs1326370032
|
0.00003
|
NM_001145809.2(MYH14):c.4903G>A (p.Glu1635Lys)
|
rs140157424
|
0.00003
|
NM_001164277.2(SLC37A4):c.446G>A (p.Gly149Glu)
|
rs193302892
|
0.00003
|
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys)
|
rs121918807
|
0.00003
|
NM_001165963.4(SCN1A):c.4834G>A (p.Val1612Ile)
|
rs121918808
|
0.00003
|
NM_001199107.2(TBC1D24):c.1025C>T (p.Ser342Leu)
|
rs1159971280
|
0.00003
|
NM_001258392.3(CLPB):c.934C>T (p.Arg312Ter)
|
rs185461628
|
0.00003
|
NM_001267550.2(TTN):c.27607G>T (p.Glu9203Ter)
|
rs769097909
|
0.00003
|
NM_001278716.2(FBXL4):c.1288C>T (p.Arg430Ter)
|
rs758395213
|
0.00003
|
NM_001289808.2(CRYAB):c.3G>A (p.Met1Ile)
|
rs397516686
|
0.00003
|
NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn)
|
rs56208331
|
0.00003
|
NM_001368894.2(PAX6):c.1166C>A (p.Pro389Gln)
|
rs200015827
|
0.00003
|
NM_001370259.2(MEN1):c.1165C>T (p.Arg389Trp)
|
rs566593066
|
0.00003
|
NM_001370658.1(BTD):c.908A>G (p.His303Arg)
|
rs397507176
|
0.00003
|
NM_001375524.1(TRRAP):c.511C>T (p.Arg171Cys)
|
rs200157211
|
0.00003
|
NM_001375524.1(TRRAP):c.6424C>T (p.Arg2142Trp)
|
rs567468806
|
0.00003
|
NM_001378454.1(ALMS1):c.2326C>T (p.Gln776Ter)
|
rs758195453
|
0.00003
|
NM_001845.6(COL4A1):c.1055C>T (p.Pro352Leu)
|
rs200786329
|
0.00003
|
NM_001958.5(EEF1A2):c.716C>T (p.Thr239Met)
|
rs993963334
|
0.00003
|
NM_002016.2(FLG):c.7249C>T (p.Gln2417Ter)
|
rs528722713
|
0.00003
|
NM_002016.2(FLG):c.7661C>G (p.Ser2554Ter)
|
rs121909626
|
0.00003
|
NM_002016.2(FLG):c.8117C>G (p.Ser2706Ter)
|
rs542799026
|
0.00003
|
NM_002485.5(NBN):c.2060A>C (p.Lys687Thr)
|
rs186371605
|
0.00003
|
NM_002485.5(NBN):c.2215C>G (p.Leu739Val)
|
rs370058152
|
0.00003
|
NM_002485.5(NBN):c.80G>T (p.Gly27Val)
|
rs755171159
|
0.00003
|
NM_002529.4(NTRK1):c.1083G>T (p.Leu361=)
|
rs750656916
|
0.00003
|
NM_002529.4(NTRK1):c.1463G>A (p.Gly488Asp)
|
rs760222071
|
0.00003
|
NM_002529.4(NTRK1):c.2105G>A (p.Arg702His)
|
rs200022271
|
0.00003
|
NM_002691.4(POLD1):c.3016G>A (p.Ala1006Thr)
|
rs376197467
|
0.00003
|
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)
|
rs376607329
|
0.00003
|
NM_002878.4(RAD51D):c.481-8C>T
|
rs762247126
|
0.00003
|
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter)
|
rs387906843
|
0.00003
|
NM_002878.4(RAD51D):c.83-37C>A
|
rs763129236
|
0.00003
|
NM_003000.3(SDHB):c.650G>A (p.Arg217His)
|
rs747518441
|
0.00003
|
NM_003042.4(SLC6A1):c.31G>A (p.Gly11Arg)
|
rs1264567694
|
0.00003
|
NM_003060.4(SLC22A5):c.453G>A (p.Val151=)
|
rs386134194
|
0.00003
|
NM_003322.6(TULP1):c.1082G>A (p.Arg361Gln)
|
rs1313593155
|
0.00003
|
NM_003322.6(TULP1):c.1560C>A (p.Tyr520Ter)
|
rs773968778
|
0.00003
|
NM_003690.5(PRKRA):c.638G>T (p.Cys213Phe)
|
rs752452731
|
0.00003
|
NM_003859.3(DPM1):c.1A>C (p.Met1Leu)
|
rs139624629
|
0.00003
|
NM_004004.6(GJB2):c.550C>T (p.Arg184Trp)
|
rs998045226
|
0.00003
|
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)
|
rs201217593
|
0.00003
|
NM_004360.5(CDH1):c.1138-44G>A
|
rs374676556
|
0.00003
|
NM_004360.5(CDH1):c.1417G>A (p.Val473Ile)
|
rs36087757
|
0.00003
|
NM_004360.5(CDH1):c.2074G>A (p.Ala692Thr)
|
rs376854556
|
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_004493.3(HSD17B10):c.56C>G (p.Ala19Gly)
|
rs371890650
|
0.00003
|
NM_004656.4(BAP1):c.1217A>T (p.Glu406Val)
|
rs535695655
|
0.00003
|
NM_004700.4(KCNQ4):c.2014G>A (p.Val672Met)
|
rs754076761
|
0.00003
|
NM_004958.4(MTOR):c.3026G>A (p.Arg1009Gln)
|
rs778855567
|
0.00003
|
NM_005006.7(NDUFS1):c.1235C>T (p.Pro412Leu)
|
rs751150787
|
0.00003
|
NM_005186.4(CAPN1):c.618_619del (p.Gly208fs)
|
rs778722037
|
0.00003
|
NM_005228.5(EGFR):c.2033C>T (p.Thr678Met)
|
rs138193597
|
0.00003
|
NM_005228.5(EGFR):c.345T>A (p.Asn115Lys)
|
rs773596817
|
0.00003
|
NM_005228.5(EGFR):c.559+46G>A
|
rs752130552
|
0.00003
|
NM_005413.4(SIX3):c.499G>T (p.Ala167Ser)
|
rs387906868
|
0.00003
|
NM_005431.2(XRCC2):c.608C>T (p.Ser203Leu)
|
rs143856570
|
0.00003
|
NM_005448.2(BMP15):c.413G>A (p.Arg138His)
|
rs371418883
|
0.00003
|
NM_005448.2(BMP15):c.617G>A (p.Arg206His)
|
rs782516193
|
0.00003
|
NM_006017.3(PROM1):c.652C>T (p.Gln218Ter)
|
rs374017889
|
0.00003
|
NM_006231.4(POLE):c.1021-11C>T
|
rs781431436
|
0.00003
|
NM_006231.4(POLE):c.3090C>T (p.Phe1030=)
|
rs766306895
|
0.00003
|
NM_006231.4(POLE):c.3228C>T (p.Cys1076=)
|
rs767929667
|
0.00003
|
NM_006363.6(SEC23B):c.367C>T (p.Arg123Ter)
|
rs775380378
|
0.00003
|
NM_007078.3(LDB3):c.1672A>G (p.Ile558Val)
|
rs372331627
|
0.00003
|
NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys)
|
rs755312472
|
0.00003
|
NM_007194.4(CHEK2):c.1513T>C (p.Ser505Pro)
|
rs587781960
|
0.00003
|
NM_007194.4(CHEK2):c.1567C>T (p.Arg523Cys)
|
rs149501505
|
0.00003
|
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala)
|
rs587780192
|
0.00003
|
NM_007194.4(CHEK2):c.953G>A (p.Arg318His)
|
rs143611747
|
0.00003
|
NM_007294.4(BRCA1):c.179A>G (p.Gln60Arg)
|
rs373655067
|
0.00003
|
NM_007294.4(BRCA1):c.2299A>G (p.Ser767Gly)
|
rs80357194
|
0.00003
|
NM_007294.4(BRCA1):c.398G>A (p.Arg133His)
|
rs80357357
|
0.00003
|
NM_007294.4(BRCA1):c.4262A>G (p.His1421Arg)
|
rs80357079
|
0.00003
|
NM_007294.4(BRCA1):c.5333-8C>T
|
rs80358084
|
0.00003
|
NM_007294.4(BRCA1):c.811G>A (p.Val271Met)
|
rs80357244
|
0.00003
|
NM_012431.3(SEMA3E):c.2108C>T (p.Ser703Leu)
|
rs121918341
|
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_014053.4(FLVCR1):c.1546C>T (p.Arg516Ter)
|
rs538343832
|
0.00003
|
NM_014215.3(INSRR):c.3319G>T (p.Ala1107Ser)
|
rs779943666
|
0.00003
|
NM_014290.3(TDRD7):c.1846C>T (p.Leu616Phe)
|
rs766559772
|
0.00003
|
NM_016194.4(GNB5):c.368C>T (p.Ser123Leu)
|
rs761399728
|
0.00003
|
NM_016356.5(DCDC2):c.829A>T (p.Lys277Ter)
|
rs775868003
|
0.00003
|
NM_017882.3(CLN6):c.338C>T (p.Thr113Met)
|
rs758830997
|
0.00003
|
NM_018127.7(ELAC2):c.1177C>T (p.His393Tyr)
|
rs1404085657
|
0.00003
|
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp)
|
rs201908721
|
0.00003
|
NM_020634.3(GDF3):c.820C>T (p.Arg274Trp)
|
rs387906946
|
0.00003
|
NM_020937.4(FANCM):c.1667A>G (p.Asp556Gly)
|
rs148810507
|
0.00003
|
NM_020937.4(FANCM):c.4318-3T>G
|
rs367696095
|
0.00003
|
NM_020975.6(RET):c.1013C>T (p.Thr338Ile)
|
rs377767433
|
0.00003
|
NM_020975.6(RET):c.1867G>A (p.Glu623Lys)
|
rs377767402
|
0.00003
|
NM_020975.6(RET):c.3149G>A (p.Arg1050Gln)
|
rs200956659
|
0.00003
|
NM_020975.6(RET):c.539G>A (p.Arg180Gln)
|
rs370736139
|
0.00003
|
NM_021728.4(OTX2):c.713A>T (p.His238Leu)
|
rs144449264
|
0.00003
|
NM_021922.3(FANCE):c.1316G>T (p.Gly439Val)
|
rs776298967
|
0.00003
|
NM_022055.2(KCNK12):c.*8525G>C
|
rs758564047
|
0.00003
|
NM_024312.5(GNPTAB):c.117G>T (p.Glu39Asp)
|
rs765682282
|
0.00003
|
NM_024417.5(FDXR):c.980G>A (p.Arg327His)
|
rs752410856
|
0.00003
|
NM_024422.6(DSC2):c.1018A>G (p.Thr340Ala)
|
rs368299411
|
0.00003
|
NM_024675.4(PALB2):c.110G>A (p.Arg37His)
|
rs202194596
|
0.00003
|
NM_024675.4(PALB2):c.2897T>C (p.Ile966Thr)
|
rs587780214
|
0.00003
|
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg)
|
rs142132127
|
0.00003
|
NM_025099.6(CTC1):c.19C>T (p.Gln7Ter)
|
rs374877315
|
0.00003
|
NM_025099.6(CTC1):c.2453G>A (p.Arg818Gln)
|
rs772328631
|
0.00003
|
NM_025114.4(CEP290):c.2722C>T (p.Arg908Ter)
|
rs886042153
|
0.00003
|
NM_025132.4(WDR19):c.2129T>C (p.Leu710Ser)
|
rs387906980
|
0.00003
|
NM_030662.4(MAP2K2):c.818A>G (p.Lys273Arg)
|
rs539555837
|
0.00003
|
NM_031885.5(BBS2):c.401C>G (p.Pro134Arg)
|
rs376306240
|
0.00003
|
NM_032043.3(BRIP1):c.2100A>G (p.Leu700=)
|
rs766047812
|
0.00003
|
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu)
|
rs140233356
|
0.00003
|
NM_032043.3(BRIP1):c.2854A>G (p.Ile952Val)
|
rs200239986
|
0.00003
|
NM_032043.3(BRIP1):c.702G>A (p.Lys234=)
|
rs45512798
|
0.00003
|
NM_032043.3(BRIP1):c.728T>C (p.Ile243Thr)
|
rs587781860
|
0.00003
|
NM_032043.3(BRIP1):c.887A>G (p.Glu296Gly)
|
rs878855158
|
0.00003
|
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His)
|
rs371947306
|
0.00003
|
NM_032444.4(SLX4):c.1547C>T (p.Ala516Val)
|
rs199683722
|
0.00003
|
NM_032977.4(CASP10):c.440T>C (p.Met147Thr)
|
rs121909776
|
0.00003
|
NM_033343.4(LHX4):c.704G>A (p.Arg235Gln)
|
rs765008063
|
0.00003
|
NM_058216.3(RAD51C):c.1102C>T (p.Arg368Trp)
|
rs587780253
|
0.00003
|
NM_138959.3(VANGL1):c.518G>A (p.Arg173His)
|
rs148341022
|
0.00003
|
NM_152328.5(ADSS1):c.919del (p.Ile307fs)
|
rs559454746
|
0.00003
|
NM_170707.4(LMNA):c.892C>T (p.Arg298Cys)
|
rs59885338
|
0.00003
|
NM_175914.5(HNF4A):c.1097C>G (p.Pro366Arg)
|
rs193922469
|
0.00003
|
NM_178172.6(GPIHBP1):c.226C>T (p.Arg76Cys)
|
rs756671297
|
0.00003
|
NM_182925.5(FLT4):c.2104G>T (p.Ala702Ser)
|
rs746659265
|
0.00003
|
NM_182961.4(SYNE1):c.9679G>A (p.Glu3227Lys)
|
rs1024177161
|
0.00003
|
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)
|
rs28939720
|
0.00003
|
NM_201253.3(CRB1):c.2291G>A (p.Arg764His)
|
rs375040930
|
0.00003
|
NM_201384.3(PLEC):c.13444G>A (p.Gly4482Ser)
|
rs373807877
|
0.00003
|
NM_203447.4(DOCK8):c.3209A>G (p.Asn1070Ser)
|
rs368569393
|
0.00003
|
NM_206933.4(USH2A):c.4957C>T (p.Arg1653Ter)
|
rs754768875
|
0.00003
|
NM_206933.4(USH2A):c.7451+3G>A
|
rs397518030
|
0.00003
|
NM_206933.4(USH2A):c.9842G>T (p.Cys3281Phe)
|
rs727504654
|
0.00003
|
NM_000033.4(ABCD1):c.199A>G (p.Met67Val)
|
rs1057114018
|
0.00002
|
NM_000038.6(APC):c.1589T>C (p.Val530Ala)
|
rs202199891
|
0.00002
|
NM_000038.6(APC):c.1984C>A (p.Leu662Ile)
|
rs756859993
|
0.00002
|
NM_000038.6(APC):c.3225T>C (p.Tyr1075=)
|
rs768123840
|
0.00002
|
NM_000038.6(APC):c.3437G>A (p.Arg1146His)
|
rs763486328
|
0.00002
|
NM_000038.6(APC):c.4310A>G (p.Lys1437Arg)
|
rs745825088
|
0.00002
|
NM_000038.6(APC):c.4999A>G (p.Asn1667Asp)
|
rs775241441
|
0.00002
|
NM_000038.6(APC):c.5225G>A (p.Arg1742His)
|
rs199775075
|
0.00002
|
NM_000038.6(APC):c.5308A>G (p.Lys1770Glu)
|
rs551183536
|
0.00002
|
NM_000038.6(APC):c.6499A>G (p.Ile2167Val)
|
rs757567894
|
0.00002
|
NM_000038.6(APC):c.689G>A (p.Arg230His)
|
rs587780545
|
0.00002
|
NM_000038.6(APC):c.7495G>C (p.Val2499Leu)
|
rs33941929
|
0.00002
|
NM_000038.6(APC):c.7550A>G (p.Tyr2517Cys)
|
rs587783036
|
0.00002
|
NM_000038.6(APC):c.8141G>A (p.Arg2714His)
|
rs747362422
|
0.00002
|
NM_000044.6(AR):c.1651G>C (p.Asp551His)
|
rs777461721
|
0.00002
|
NM_000045.4(ARG1):c.3G>A (p.Met1Ile)
|
rs745624953
|
0.00002
|
NM_000045.4(ARG1):c.923G>A (p.Arg308Gln)
|
rs377280518
|
0.00002
|
NM_000051.4(ATM):c.1237C>T (p.Leu413=)
|
rs1565381686
|
0.00002
|
NM_000051.4(ATM):c.2115C>T (p.Tyr705=)
|
rs876659149
|
0.00002
|
NM_000051.4(ATM):c.2159G>A (p.Arg720His)
|
rs55830714
|
0.00002
|
NM_000051.4(ATM):c.2944C>T (p.Arg982Cys)
|
rs587779830
|
0.00002
|
NM_000051.4(ATM):c.3978C>A (p.Asn1326Lys)
|
rs778123057
|
0.00002
|
NM_000051.4(ATM):c.4437-9C>T
|
rs766003804
|
0.00002
|
NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile)
|
rs538452060
|
0.00002
|
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr)
|
rs148064985
|
0.00002
|
NM_000051.4(ATM):c.7875T>G (p.Asp2625Glu)
|
rs1196903858
|
0.00002
|
NM_000051.4(ATM):c.7876G>C (p.Ala2626Pro)
|
rs267606669
|
0.00002
|
NM_000051.4(ATM):c.8151+8T>C
|
rs768069197
|
0.00002
|
NM_000051.4(ATM):c.8152-50T>C
|
rs762648668
|
0.00002
|
NM_000051.4(ATM):c.8187A>C (p.Gln2729His)
|
rs587781946
|
0.00002
|
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)
|
rs587782292
|
0.00002
|
NM_000057.4(BLM):c.3019+17T>C
|
rs532036885
|
0.00002
|
NM_000057.4(BLM):c.4016T>C (p.Met1339Thr)
|
rs761320085
|
0.00002
|
NM_000057.4(BLM):c.963G>A (p.Thr321=)
|
rs779461745
|
0.00002
|
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met)
|
rs55853199
|
0.00002
|
NM_000059.4(BRCA2):c.172G>A (p.Glu58Lys)
|
rs397507603
|
0.00002
|
NM_000059.4(BRCA2):c.1763A>G (p.Asn588Ser)
|
rs373400041
|
0.00002
|
NM_000059.4(BRCA2):c.1820A>C (p.Lys607Thr)
|
rs55962656
|
0.00002
|
NM_000059.4(BRCA2):c.229A>G (p.Thr77Ala)
|
rs80358500
|
0.00002
|
NM_000059.4(BRCA2):c.3299A>T (p.Asn1100Ile)
|
rs80358575
|
0.00002
|
NM_000059.4(BRCA2):c.353G>A (p.Arg118His)
|
rs80358603
|
0.00002
|
NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp)
|
rs80358626
|
0.00002
|
NM_000059.4(BRCA2):c.5096A>G (p.Asp1699Gly)
|
rs80358732
|
0.00002
|
NM_000059.4(BRCA2):c.5270A>G (p.Tyr1757Cys)
|
rs587776466
|
0.00002
|
NM_000059.4(BRCA2):c.6029T>G (p.Val2010Gly)
|
rs80358839
|
0.00002
|
NM_000059.4(BRCA2):c.6665A>G (p.Tyr2222Cys)
|
rs397507875
|
0.00002
|
NM_000059.4(BRCA2):c.7507G>A (p.Val2503Ile)
|
rs587782191
|
0.00002
|
NM_000059.4(BRCA2):c.8360G>A (p.Arg2787His)
|
rs80359078
|
0.00002
|
NM_000059.4(BRCA2):c.9986A>G (p.Asn3329Ser)
|
rs76635144
|
0.00002
|
NM_000075.4(CDK4):c.661G>A (p.Asp221Asn)
|
rs587778187
|
0.00002
|
NM_000075.4(CDK4):c.763C>T (p.Arg255Cys)
|
rs587778188
|
0.00002
|
NM_000077.5(CDKN2A):c.457+30C>T
|
rs780868128
|
0.00002
|
NM_000094.4(COL7A1):c.4018C>T (p.Arg1340Ter)
|
rs761927109
|
0.00002
|
NM_000104.4(CYP1B1):c.1198C>T (p.Pro400Ser)
|
rs768047511
|
0.00002
|
NM_000108.5(DLD):c.1440A>G (p.Ile480Met)
|
rs772512477
|
0.00002
|
NM_000111.3(SLC26A3):c.1696C>T (p.Arg566Ter)
|
rs1018933248
|
0.00002
|
NM_000123.4(ERCC5):c.3428C>T (p.Ala1143Val)
|
rs376411022
|
0.00002
|
NM_000127.3(EXT1):c.2072G>A (p.Arg691His)
|
rs746678682
|
0.00002
|
NM_000132.4(F8):c.1030A>C (p.Lys344Gln)
|
rs782395704
|
0.00002
|
NM_000132.4(F8):c.2149C>T (p.Arg717Trp)
|
rs137852435
|
0.00002
|
NM_000132.4(F8):c.5381T>A (p.Phe1794Tyr)
|
rs782123880
|
0.00002
|
NM_000132.4(F8):c.5999-11G>A
|
rs782132907
|
0.00002
|
NM_000132.4(F8):c.6544C>T (p.Arg2182Cys)
|
rs137852467
|
0.00002
|
NM_000132.4(F8):c.6652A>G (p.Met2218Val)
|
rs782627131
|
0.00002
|
NM_000135.4(FANCA):c.1822A>G (p.Lys608Glu)
|
rs938278864
|
0.00002
|
NM_000136.3(FANCC):c.1161C>T (p.Cys387=)
|
rs548998258
|
0.00002
|
NM_000137.4(FAH):c.696C>T (p.Asn232=)
|
rs533540262
|
0.00002
|
NM_000152.5(GAA):c.1927G>A (p.Gly643Arg)
|
rs28937909
|
0.00002
|
NM_000154.2(GALK1):c.863C>T (p.Thr288Met)
|
rs759284637
|
0.00002
|
NM_000155.4(GALT):c.997C>G (p.Arg333Gly)
|
rs111033800
|
0.00002
|
NM_000159.4(GCDH):c.1298C>T (p.Ala433Val)
|
rs933624223
|
0.00002
|
NM_000169.3(GLA):c.196G>C (p.Glu66Gln)
|
rs104894833
|
0.00002
|
NM_000179.3(MSH6):c.1168del (p.Asp390fs)
|
rs753796271
|
0.00002
|
NM_000179.3(MSH6):c.204G>A (p.Lys68=)
|
rs864622565
|
0.00002
|
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)
|
rs63750617
|
0.00002
|
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met)
|
rs63750836
|
0.00002
|
NM_000179.3(MSH6):c.4002-28del
|
rs1572749250
|
0.00002
|
NM_000180.4(GUCY2D):c.1672G>A (p.Asp558Asn)
|
rs188568530
|
0.00002
|
NM_000206.3(IL2RG):c.292A>G (p.Lys98Glu)
|
rs776710796
|
0.00002
|
NM_000208.4(INSR):c.2842+6T>A
|
rs767138526
|
0.00002
|
NM_000218.3(KCNQ1):c.1726G>A (p.Val576Ile)
|
rs750409379
|
0.00002
|
NM_000237.3(LPL):c.248C>T (p.Thr83Met)
|
rs372267210
|
0.00002
|
NM_000237.3(LPL):c.547G>A (p.Asp183Asn)
|
rs781614031
|
0.00002
|
NM_000243.3(MEFV):c.1082G>C (p.Arg361Thr)
|
rs190405488
|
0.00002
|
NM_000243.3(MEFV):c.265G>A (p.Ala89Thr)
|
rs104895124
|
0.00002
|
NM_000243.3(MEFV):c.955G>A (p.Glu319Lys)
|
rs104895110
|
0.00002
|
NM_000245.4(MET):c.1640G>A (p.Arg547Gln)
|
rs761951444
|
0.00002
|
NM_000245.4(MET):c.3054C>T (p.Asn1018=)
|
rs369148519
|
0.00002
|
NM_000251.3(MSH2):c.2061C>G (p.Leu687=)
|
rs63750032
|
0.00002
|
NM_000251.3(MSH2):c.2551C>A (p.Leu851Ile)
|
rs267608015
|
0.00002
|
NM_000251.3(MSH2):c.2717T>C (p.Ile906Thr)
|
rs587780687
|
0.00002
|
NM_000251.3(MSH2):c.703A>G (p.Lys235Glu)
|
rs749442037
|
0.00002
|
NM_000251.3(MSH2):c.80C>T (p.Pro27Leu)
|
rs750746034
|
0.00002
|
NM_000254.3(MTR):c.1559A>G (p.Tyr520Cys)
|
rs1242741686
|
0.00002
|
NM_000255.4(MMUT):c.1531C>T (p.Arg511Ter)
|
rs761525156
|
0.00002
|
NM_000255.4(MMUT):c.983T>C (p.Leu328Pro)
|
rs965316043
|
0.00002
|
NM_000256.3(MYBPC3):c.2003G>A (p.Arg668His)
|
rs727503191
|
0.00002
|
NM_000256.3(MYBPC3):c.2504G>T (p.Arg835Leu)
|
rs527305885
|
0.00002
|
NM_000256.3(MYBPC3):c.251G>A (p.Gly84Asp)
|
rs569824900
|
0.00002
|
NM_000256.3(MYBPC3):c.643C>T (p.Arg215Cys)
|
rs397516063
|
0.00002
|
NM_000256.3(MYBPC3):c.682G>A (p.Asp228Asn)
|
rs369300885
|
0.00002
|
NM_000257.4(MYH7):c.632C>T (p.Pro211Leu)
|
rs727503277
|
0.00002
|
NM_000268.4(NF2):c.1013G>A (p.Arg338His)
|
rs768053145
|
0.00002
|
NM_000268.4(NF2):c.1699G>A (p.Asp567Asn)
|
rs757586383
|
0.00002
|
NM_000276.4(OCRL):c.2084G>A (p.Arg695Gln)
|
rs773110186
|
0.00002
|
NM_000311.5(PRNP):c.695T>G (p.Met232Arg)
|
rs74315409
|
0.00002
|
NM_000314.8(PTEN):c.-280C>T
|
rs571072832
|
0.00002
|
NM_000314.8(PTEN):c.1078A>G (p.Ser360Gly)
|
rs587781273
|
0.00002
|
NM_000321.3(RB1):c.1128-43C>T
|
rs955333850
|
0.00002
|
NM_000321.3(RB1):c.2518G>A (p.Gly840Arg)
|
rs374157786
|
0.00002
|
NM_000330.4(RS1):c.185-3188G>A
|
rs267608665
|
0.00002
|
NM_000335.5(SCN5A):c.3316G>A (p.Glu1106Lys)
|
rs199473193
|
0.00002
|
NM_000335.5(SCN5A):c.436G>A (p.Val146Met)
|
rs199473061
|
0.00002
|
NM_000335.5(SCN5A):c.5960T>G (p.Leu1987Arg)
|
rs145009013
|
0.00002
|
NM_000335.5(SCN5A):c.874G>A (p.Gly292Ser)
|
rs199473085
|
0.00002
|
NM_000377.3(WAS):c.16A>G (p.Met6Val)
|
rs782730988
|
0.00002
|
NM_000382.3(ALDH3A2):c.1443+1G>A
|
rs199548781
|
0.00002
|
NM_000404.4(GLB1):c.175C>T (p.Arg59Cys)
|
rs756878418
|
0.00002
|
NM_000431.4(MVK):c.1156G>A (p.Asp386Asn)
|
rs104895380
|
0.00002
|
NM_000444.6(PHEX):c.1501G>A (p.Asp501Asn)
|
rs373235530
|
0.00002
|
NM_000455.5(STK11):c.1040C>T (p.Ala347Val)
|
rs587782058
|
0.00002
|
NM_000463.3(UGT1A1):c.1021C>T (p.Arg341Ter)
|
rs72551349
|
0.00002
|
NM_000465.4(BARD1):c.1212C>G (p.Tyr404Ter)
|
rs587782681
|
0.00002
|
NM_000465.4(BARD1):c.1569-13C>G
|
rs587780018
|
0.00002
|
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln)
|
rs121908753
|
0.00002
|
NM_000492.4(CFTR):c.1682C>A (p.Ala561Glu)
|
rs121909047
|
0.00002
|
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn)
|
rs397508300
|
0.00002
|
NM_000492.4(CFTR):c.1A>G (p.Met1Val)
|
rs397508328
|
0.00002
|
NM_000492.4(CFTR):c.2491G>T (p.Glu831Ter)
|
rs397508387
|
0.00002
|
NM_000492.4(CFTR):c.2687C>T (p.Thr896Ile)
|
rs752617117
|
0.00002
|
NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter)
|
rs78802634
|
0.00002
|
NM_000492.4(CFTR):c.3302T>A (p.Met1101Lys)
|
rs36210737
|
0.00002
|
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter)
|
rs79850223
|
0.00002
|
NM_000492.4(CFTR):c.4426C>T (p.Gln1476Ter)
|
rs374705585
|
0.00002
|
NM_000492.4(CFTR):c.532G>A (p.Gly178Arg)
|
rs80282562
|
0.00002
|
NM_000492.4(CFTR):c.579+3A>G
|
rs397508761
|
0.00002
|
NM_000492.4(CFTR):c.627A>G (p.Ala209=)
|
rs397508773
|
0.00002
|
NM_000507.4(FBP1):c.472C>T (p.Arg158Trp)
|
rs766005419
|
0.00002
|
NM_000518.5(HBB):c.262A>C (p.Thr88Pro)
|
rs35553496
|
0.00002
|
NM_000535.7(PMS2):c.113C>T (p.Ala38Val)
|
rs148270248
|
0.00002
|
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr)
|
rs386833410
|
0.00002
|
NM_000540.3(RYR1):c.3127C>T (p.Arg1043Cys)
|
rs111272095
|
0.00002
|
NM_000546.6(TP53):c.555C>T (p.Ser185=)
|
rs367560109
|
0.00002
|
NM_000546.6(TP53):c.665C>T (p.Pro222Leu)
|
rs146340390
|
0.00002
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
NM_000702.4(ATP1A2):c.2876C>T (p.Thr959Met)
|
rs1226796744
|
0.00002
|
NM_000891.3(KCNJ2):c.236T>C (p.Ile79Thr)
|
rs786205813
|
0.00002
|
NM_000918.4(P4HB):c.1000C>G (p.Leu334Val)
|
rs1443873151
|
0.00002
|
NM_001012339.3(DNAJC21):c.983+1G>A
|
rs368148362
|
0.00002
|
NM_001018005.2(TPM1):c.62G>T (p.Arg21Leu)
|
rs730881151
|
0.00002
|
NM_001032386.2(SUOX):c.796G>A (p.Gly266Ser)
|
rs144064367
|
0.00002
|
NM_001042492.3(NF1):c.2617C>T (p.Arg873Cys)
|
rs199474739
|
0.00002
|
NM_001042492.3(NF1):c.4009C>T (p.Arg1337Trp)
|
rs146306756
|
0.00002
|
NM_001042492.3(NF1):c.4262C>T (p.Pro1421Leu)
|
rs753997885
|
0.00002
|
NM_001042492.3(NF1):c.5423C>T (p.Thr1808Met)
|
rs760649828
|
0.00002
|
NM_001042492.3(NF1):c.5470A>G (p.Ile1824Val)
|
rs370858405
|
0.00002
|
NM_001042492.3(NF1):c.7484C>T (p.Ser2495Phe)
|
rs757245615
|
0.00002
|
NM_001048174.2(MUTYH):c.1226G>A (p.Arg409Gln)
|
rs587782120
|
0.00002
|
NM_001048174.2(MUTYH):c.504G>C (p.Glu168Asp)
|
rs587781645
|
0.00002
|
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp)
|
rs34126013
|
0.00002
|
NM_001060.6(TBXA2R):c.179G>T (p.Arg60Leu)
|
rs34377097
|
0.00002
|
NM_001077415.3(CRELD1):c.973G>A (p.Glu325Lys)
|
rs755981922
|
0.00002
|
NM_001079866.2(BCS1L):c.-50+388C>G
|
rs1006907254
|
0.00002
|
NM_001079866.2(BCS1L):c.-50+405A>G
|
rs898301590
|
0.00002
|
NM_001083116.3(PRF1):c.160C>T (p.Arg54Cys)
|
rs200430442
|
0.00002
|
NM_001102592.2(HENMT1):c.253C>T (p.Arg85Ter)
|
rs752974170
|
0.00002
|
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala)
|
rs179363900
|
0.00002
|
NM_001128425.2(MUTYH):c.161G>A (p.Cys54Tyr)
|
rs560905645
|
0.00002
|
NM_001142800.2(EYS):c.1999C>T (p.Arg667Cys)
|
rs765763663
|
0.00002
|
NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter)
|
rs527236067
|
0.00002
|
NM_001148.6(ANK2):c.2074A>G (p.Thr692Ala)
|
rs761413864
|
0.00002
|
NM_001199107.2(TBC1D24):c.1544C>T (p.Ala515Val)
|
rs267607105
|
0.00002
|
NM_001256789.3(CACNA1F):c.1108G>A (p.Val370Ile)
|
rs782458308
|
0.00002
|
NM_001256789.3(CACNA1F):c.1276+34G>A
|
rs782575860
|
0.00002
|
NM_001271.4(CHD2):c.4435G>A (p.Val1479Met)
|
rs779953123
|
0.00002
|
NM_001317778.2(SFTPC):c.318C>A (p.Tyr106Ter)
|
rs201933678
|
0.00002
|
NM_001346754.2(PIGW):c.1504C>T (p.Gln502Ter)
|
rs372135184
|
0.00002
|
NM_001353788.2(APBA2):c.229G>A (p.Val77Met)
|
rs140795962
|
0.00002
|
NM_001360016.2(G6PD):c.406C>T (p.Arg136Cys)
|
rs979416826
|
0.00002
|
NM_001360016.2(G6PD):c.703C>T (p.Leu235Phe)
|
rs782757170
|
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_001848.3(COL6A1):c.821C>T (p.Pro274Leu)
|
rs201093313
|
0.00002
|
NM_002103.5(GYS1):c.1258C>T (p.Leu420=)
|
rs761332247
|
0.00002
|
NM_002354.3(EPCAM):c.38T>C (p.Leu13Pro)
|
rs776646187
|
0.00002
|
NM_002485.5(NBN):c.120G>T (p.Ser40=)
|
rs774989816
|
0.00002
|
NM_002485.5(NBN):c.1591A>G (p.Ile531Val)
|
rs587782330
|
0.00002
|
NM_002485.5(NBN):c.1849G>A (p.Glu617Lys)
|
rs766602873
|
0.00002
|
NM_002485.5(NBN):c.2029G>A (p.Asp677Asn)
|
rs730881856
|
0.00002
|
NM_002485.5(NBN):c.929T>C (p.Ile310Thr)
|
rs753812768
|
0.00002
|
NM_002528.7(NTHL1):c.115+1G>A
|
rs749908882
|
0.00002
|
NM_002576.5(PAK1):c.643C>T (p.Arg215Trp)
|
rs887262054
|
0.00002
|
NM_002691.4(POLD1):c.132G>A (p.Met44Ile)
|
rs757575448
|
0.00002
|
NM_002691.4(POLD1):c.2155-6C>T
|
rs112481714
|
0.00002
|
NM_002691.4(POLD1):c.2565-12G>A
|
rs779262089
|
0.00002
|
NM_002691.4(POLD1):c.3157C>T (p.Arg1053Cys)
|
rs779208942
|
0.00002
|
NM_002769.5(PRSS1):c.292C>A (p.Gln98Lys)
|
rs750348889
|
0.00002
|
NM_002834.5(PTPN11):c.455G>A (p.Arg152His)
|
rs397507521
|
0.00002
|
NM_002878.4(RAD51D):c.164G>A (p.Arg55Gln)
|
rs151198586
|
0.00002
|
NM_002878.4(RAD51D):c.363del (p.Ala122fs)
|
rs730881935
|
0.00002
|
NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter)
|
rs750621215
|
0.00002
|
NM_002878.4(RAD51D):c.899G>A (p.Arg300Gln)
|
rs761290755
|
0.00002
|
NM_002890.3(RASA1):c.2288A>T (p.Glu763Val)
|
rs373098580
|
0.00002
|
NM_002907.4(RECQL):c.502-10C>T
|
rs1565569497
|
0.00002
|
NM_002907.4(RECQL):c.868-10T>A
|
rs752255394
|
0.00002
|
NM_003038.5(SLC1A4):c.1370G>A (p.Arg457Gln)
|
rs767412828
|
0.00002
|
NM_003079.5(SMARCE1):c.156+34C>T
|
rs1035809077
|
0.00002
|
NM_003466.4(PAX8):c.709G>C (p.Glu237Gln)
|
rs199890664
|
0.00002
|
NM_003482.4(KMT2D):c.4427C>G (p.Ser1476Cys)
|
rs1227169455
|
0.00002
|
NM_003620.4(PPM1D):c.1714C>T (p.Arg572Ter)
|
rs765769406
|
0.00002
|
NM_003849.4(SUCLG1):c.548T>C (p.Ile183Thr)
|
rs140626260
|
0.00002
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
NM_004006.3(DMD):c.2528A>T (p.Glu843Val)
|
rs202167701
|
0.00002
|
NM_004006.3(DMD):c.3101C>T (p.Ser1034Phe)
|
rs794727380
|
0.00002
|
NM_004006.3(DMD):c.7359A>G (p.Glu2453=)
|
rs780283825
|
0.00002
|
NM_004092.4(ECHS1):c.161G>A (p.Arg54His)
|
rs375266808
|
0.00002
|
NM_004092.4(ECHS1):c.394G>A (p.Ala132Thr)
|
rs770931871
|
0.00002
|
NM_004092.4(ECHS1):c.713C>T (p.Ala238Val)
|
rs200584793
|
0.00002
|
NM_004360.5(CDH1):c.1004G>A (p.Arg335Gln)
|
rs373364873
|
0.00002
|
NM_004360.5(CDH1):c.1118C>T (p.Pro373Leu)
|
rs587782359
|
0.00002
|
NM_004360.5(CDH1):c.1273G>A (p.Val425Ile)
|
rs570930882
|
0.00002
|
NM_004360.5(CDH1):c.1679C>T (p.Thr560Met)
|
rs746481984
|
0.00002
|
NM_004360.5(CDH1):c.2359G>A (p.Val787Ile)
|
rs766270336
|
0.00002
|
NM_004360.5(CDH1):c.269G>A (p.Arg90Gln)
|
rs587782647
|
0.00002
|
NM_004360.5(CDH1):c.371G>A (p.Arg124His)
|
rs115418995
|
0.00002
|
NM_004366.6(CLCN2):c.1709G>A (p.Trp570Ter)
|
rs201330912
|
0.00002
|
NM_004387.4(NKX2-5):c.943G>T (p.Val315Leu)
|
rs201249977
|
0.00002
|
NM_004656.4(BAP1):c.2076G>A (p.Val692=)
|
rs747712653
|
0.00002
|
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del)
|
rs113994204
|
0.00002
|
NM_005431.2(XRCC2):c.644G>A (p.Arg215Gln)
|
rs762828701
|
0.00002
|
NM_005472.5(KCNE3):c.10A>G (p.Thr4Ala)
|
rs200856070
|
0.00002
|
NM_005548.3(KARS1):c.1430G>A (p.Arg477His)
|
rs778748895
|
0.00002
|
NM_005689.4(ABCB6):c.459del (p.Trp154fs)
|
rs755723161
|
0.00002
|
NM_005732.4(RAD50):c.1992A>G (p.Ala664=)
|
rs773126534
|
0.00002
|
NM_005732.4(RAD50):c.282A>G (p.Ile94Met)
|
rs786202847
|
0.00002
|
NM_006005.3(WFS1):c.2007T>G (p.Tyr669Ter)
|
rs1443751733
|
0.00002
|
NM_006218.4(PIK3CA):c.1767T>C (p.Asp589=)
|
rs199540873
|
0.00002
|
NM_006218.4(PIK3CA):c.2418T>C (p.Asp806=)
|
rs199693043
|
0.00002
|
NM_006231.4(POLE):c.1717C>T (p.Arg573Trp)
|
rs373000452
|
0.00002
|
NM_006231.4(POLE):c.2099C>T (p.Pro700Leu)
|
rs777002868
|
0.00002
|
NM_006231.4(POLE):c.2209A>G (p.Thr737Ala)
|
rs779102091
|
0.00002
|
NM_006231.4(POLE):c.2527A>G (p.Ile843Val)
|
rs780758461
|
0.00002
|
NM_006231.4(POLE):c.5843A>G (p.Asp1948Gly)
|
rs372504703
|
0.00002
|
NM_006579.3(EBP):c.517G>A (p.Gly173Arg)
|
rs781964042
|
0.00002
|
NM_006736.6(DNAJB2):c.352+1G>A
|
rs756614404
|
0.00002
|
NM_007194.4(CHEK2):c.1175C>T (p.Ala392Val)
|
rs373073383
|
0.00002
|
NM_007194.4(CHEK2):c.1562G>A (p.Arg521Gln)
|
rs373959274
|
0.00002
|
NM_007194.4(CHEK2):c.157T>A (p.Ser53Thr)
|
rs371657037
|
0.00002
|
NM_007194.4(CHEK2):c.1586G>A (p.Gly529Asp)
|
rs751653049
|
0.00002
|
NM_007194.4(CHEK2):c.475T>C (p.Tyr159His)
|
rs781254437
|
0.00002
|
NM_007194.4(CHEK2):c.478A>G (p.Ile160Val)
|
rs876659950
|
0.00002
|
NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr)
|
rs80356895
|
0.00002
|
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr)
|
rs80357480
|
0.00002
|
NM_007294.4(BRCA1):c.3012G>A (p.Glu1004=)
|
rs786201784
|
0.00002
|
NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp)
|
rs80356876
|
0.00002
|
NM_007294.4(BRCA1):c.4766G>A (p.Arg1589His)
|
rs80357341
|
0.00002
|
NM_007294.4(BRCA1):c.4955T>C (p.Met1652Thr)
|
rs80356968
|
0.00002
|
NM_007294.4(BRCA1):c.5074+23A>G
|
rs778115859
|
0.00002
|
NM_007294.4(BRCA1):c.5074+6C>G
|
rs80358032
|
0.00002
|
NM_007294.4(BRCA1):c.509G>A (p.Arg170Gln)
|
rs80357264
|
0.00002
|
NM_007294.4(BRCA1):c.5175A>G (p.Glu1725=)
|
rs191373374
|
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_012079.6(DGAT1):c.1183C>T (p.Arg395Ter)
|
rs372817613
|
0.00002
|
NM_012213.3(MLYCD):c.688C>T (p.Arg230Cys)
|
rs1344757641
|
0.00002
|
NM_013382.7(POMT2):c.320C>T (p.Pro107Leu)
|
rs398124264
|
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_014804.3(KIAA0753):c.970C>T (p.Arg324Ter)
|
rs746068882
|
0.00002
|
NM_015103.3(PLXND1):c.5081A>G (p.His1694Arg)
|
rs761108683
|
0.00002
|
NM_015559.3(SETBP1):c.3832C>G (p.Leu1278Val)
|
rs751429016
|
0.00002
|
NM_015937.6(PIGT):c.514C>T (p.Arg172Cys)
|
rs778531326
|
0.00002
|
NM_017763.6(RNF43):c.185A>G (p.Asn62Ser)
|
rs1206047972
|
0.00002
|
NM_017802.4(DNAAF5):c.416A>G (p.Glu139Gly)
|
rs1240120554
|
0.00002
|
NM_017849.4(TMEM127):c.410-6T>G
|
rs765971817
|
0.00002
|
NM_017882.3(CLN6):c.775G>A (p.Gly259Ser)
|
rs150363441
|
0.00002
|
NM_018941.4(CLN8):c.208C>T (p.Arg70Cys)
|
rs765097897
|
0.00002
|
NM_019032.6(ADAMTSL4):c.1666C>T (p.Arg556Ter)
|
rs748487774
|
0.00002
|
NM_019032.6(ADAMTSL4):c.2008C>T (p.Arg670Ter)
|
rs368482584
|
0.00002
|
NM_019594.4(LRRC8A):c.203C>T (p.Ser68Leu)
|
rs147311433
|
0.00002
|
NM_020435.4(GJC2):c.217C>A (p.Pro73Thr)
|
rs1330596542
|
0.00002
|
NM_020442.6(VARS2):c.1834_1835del (p.Leu612fs)
|
rs777028011
|
0.00002
|
NM_020632.3(ATP6V0A4):c.1691+2dup
|
rs753232747
|
0.00002
|
NM_020822.3(KCNT1):c.3451G>A (p.Glu1151Lys)
|
rs767450181
|
0.00002
|
NM_020975.6(RET):c.134C>T (p.Ala45Val)
|
rs763526874
|
0.00002
|
NM_020975.6(RET):c.1678C>T (p.Pro560Ser)
|
rs748852160
|
0.00002
|
NM_020975.6(RET):c.1941C>T (p.Ile647=)
|
rs75225191
|
0.00002
|
NM_020975.6(RET):c.973G>A (p.Ala325Thr)
|
rs779719517
|
0.00002
|
NM_021133.4(RNASEL):c.221T>C (p.Ile74Thr)
|
rs756820819
|
0.00002
|
NM_022089.4(ATP13A2):c.2368G>A (p.Glu790Lys)
|
rs754208001
|
0.00002
|
NM_022455.5(NSD1):c.6887T>C (p.Val2296Ala)
|
rs754309202
|
0.00002
|
NM_024408.4(NOTCH2):c.137A>G (p.Asn46Ser)
|
rs61788900
|
0.00002
|
NM_024408.4(NOTCH2):c.85C>T (p.Arg29Ter)
|
rs1174406807
|
0.00002
|
NM_024675.4(PALB2):c.1093A>G (p.Arg365Gly)
|
rs773001248
|
0.00002
|
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg)
|
rs749494645
|
0.00002
|
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter)
|
rs180177110
|
0.00002
|
NM_024675.4(PALB2):c.2903C>G (p.Ala968Gly)
|
rs369132015
|
0.00002
|
NM_030653.4(DDX11):c.767G>A (p.Arg256Gln)
|
rs762392717
|
0.00002
|
NM_030662.4(MAP2K2):c.787G>A (p.Gly263Arg)
|
rs730880522
|
0.00002
|
NM_030948.6(PHACTR1):c.1561C>T (p.Arg521Cys)
|
rs748743403
|
0.00002
|
NM_032043.3(BRIP1):c.-95G>A
|
rs892920553
|
0.00002
|
NM_032043.3(BRIP1):c.1899C>G (p.Ile633Met)
|
rs28997572
|
0.00002
|
NM_032043.3(BRIP1):c.3191T>C (p.Phe1064Ser)
|
rs916937983
|
0.00002
|
NM_032043.3(BRIP1):c.3298G>A (p.Asp1100Asn)
|
rs587781923
|
0.00002
|
NM_032043.3(BRIP1):c.518G>A (p.Arg173His)
|
rs761432927
|
0.00002
|
NM_032119.4(ADGRV1):c.13655dup (p.Asn4553fs)
|
rs765376986
|
0.00002
|
NM_032444.4(SLX4):c.4021A>G (p.Arg1341Gly)
|
rs747230215
|
0.00002
|
NM_032638.5(GATA2):c.1017+8C>T
|
rs200848213
|
0.00002
|
NM_032977.4(CASP10):c.325C>T (p.Arg109Ter)
|
rs201601111
|
0.00002
|
NM_033380.3(COL4A5):c.2107A>G (p.Ile703Val)
|
rs104886155
|
0.00002
|
NM_052845.4(MMAB):c.548A>T (p.His183Leu)
|
rs752866643
|
0.00002
|
NM_052859.4(RFT1):c.454A>G (p.Lys152Glu)
|
rs763862849
|
0.00002
|
NM_052874.5(STX1B):c.121G>A (p.Gly41Ser)
|
rs1428045237
|
0.00002
|
NM_058216.3(RAD51C):c.1026+43C>T
|
rs750859385
|
0.00002
|
NM_058216.3(RAD51C):c.146-3C>T
|
rs765143155
|
0.00002
|
NM_058216.3(RAD51C):c.719T>C (p.Ile240Thr)
|
rs539341386
|
0.00002
|
NM_058216.3(RAD51C):c.773G>A (p.Arg258His)
|
rs267606997
|
0.00002
|
NM_145109.3(MAP2K3):c.773T>C (p.Met258Thr)
|
rs1433036479
|
0.00002
|
NM_152564.5(VPS13B):c.1079del (p.Asp360fs)
|
rs767518464
|
0.00002
|
NM_153033.5(KCTD7):c.251G>A (p.Arg84Gln)
|
rs200575329
|
0.00002
|
NM_153682.3(PIGP):c.22C>G (p.Pro8Ala)
|
rs201170767
|
0.00002
|
NM_177550.5(SLC13A5):c.434C>T (p.Thr145Met)
|
rs1202091819
|
0.00002
|
NM_183050.4(BCKDHB):c.528C>G (p.Asn176Lys)
|
rs763645251
|
0.00002
|
NM_194277.3(FRMD7):c.875T>C (p.Leu292Pro)
|
rs192346335
|
0.00002
|
NM_201548.5(CERKL):c.481+2T>G
|
rs753994107
|
0.00002
|
NM_206933.4(USH2A):c.1001G>A (p.Arg334Gln)
|
rs758303489
|
0.00002
|
NM_000016.6(ACADM):c.698T>C (p.Ile233Thr)
|
rs770273135
|
0.00001
|
NM_000018.4(ACADVL):c.1127T>C (p.Phe376Ser)
|
rs758928307
|
0.00001
|
NM_000018.4(ACADVL):c.853G>C (p.Glu285Gln)
|
rs202216257
|
0.00001
|
NM_000030.3(AGXT):c.107G>A (p.Arg36His)
|
rs180177162
|
0.00001
|
NM_000033.4(ABCD1):c.337C>T (p.Arg113Cys)
|
rs1557052306
|
0.00001
|
NM_000038.6(APC):c.-19+416C>T
|
rs976627265
|
0.00001
|
NM_000038.6(APC):c.1243G>A (p.Ala415Thr)
|
rs756336949
|
0.00001
|
NM_000038.6(APC):c.1283A>G (p.Glu428Gly)
|
rs750487805
|
0.00001
|
NM_000038.6(APC):c.1441G>A (p.Val481Met)
|
rs587780542
|
0.00001
|
NM_000038.6(APC):c.1564A>G (p.Met522Val)
|
rs587781692
|
0.00001
|
NM_000038.6(APC):c.1580G>C (p.Arg527Thr)
|
rs1554081889
|
0.00001
|
NM_000038.6(APC):c.1610G>A (p.Ser537Asn)
|
rs1001526630
|
0.00001
|
NM_000038.6(APC):c.1925T>C (p.Val642Ala)
|
rs759528091
|
0.00001
|
NM_000038.6(APC):c.2414G>A (p.Arg805Gln)
|
rs200593940
|
0.00001
|
NM_000038.6(APC):c.2472A>T (p.Pro824=)
|
rs746965994
|
0.00001
|
NM_000038.6(APC):c.262C>T (p.Arg88Trp)
|
rs746592911
|
0.00001
|
NM_000038.6(APC):c.2642C>T (p.Ser881Phe)
|
rs535344579
|
0.00001
|
NM_000038.6(APC):c.3229G>C (p.Val1077Leu)
|
rs1332655563
|
0.00001
|
NM_000038.6(APC):c.3295G>A (p.Val1099Ile)
|
rs730881245
|
0.00001
|
NM_000038.6(APC):c.3804A>G (p.Pro1268=)
|
rs878853442
|
0.00001
|
NM_000038.6(APC):c.3910A>G (p.Ile1304Val)
|
rs770157475
|
0.00001
|
NM_000038.6(APC):c.4213G>A (p.Val1405Ile)
|
rs761966904
|
0.00001
|
NM_000038.6(APC):c.4333A>G (p.Thr1445Ala)
|
rs587780597
|
0.00001
|
NM_000038.6(APC):c.4414G>A (p.Val1472Ile)
|
rs878853445
|
0.00001
|
NM_000038.6(APC):c.4594G>A (p.Asp1532Asn)
|
rs730881251
|
0.00001
|
NM_000038.6(APC):c.460G>A (p.Glu154Lys)
|
rs786202822
|
0.00001
|
NM_000038.6(APC):c.4831C>G (p.Gln1611Glu)
|
rs774847203
|
0.00001
|
NM_000038.6(APC):c.4833G>C (p.Gln1611His)
|
rs762030106
|
0.00001
|
NM_000038.6(APC):c.5017G>A (p.Glu1673Lys)
|
rs587779796
|
0.00001
|
NM_000038.6(APC):c.5068A>G (p.Ile1690Val)
|
rs201142277
|
0.00001
|
NM_000038.6(APC):c.5108G>C (p.Gly1703Ala)
|
rs587778042
|
0.00001
|
NM_000038.6(APC):c.5138T>C (p.Leu1713Ser)
|
rs587779797
|
0.00001
|
NM_000038.6(APC):c.5365G>C (p.Val1789Leu)
|
rs1554086666
|
0.00001
|
NM_000038.6(APC):c.5816A>T (p.Asp1939Val)
|
rs754783550
|
0.00001
|
NM_000038.6(APC):c.5987A>T (p.Gln1996Leu)
|
rs587779802
|
0.00001
|
NM_000038.6(APC):c.6136G>A (p.Ala2046Thr)
|
rs770406711
|
0.00001
|
NM_000038.6(APC):c.6203T>C (p.Met2068Thr)
|
rs863224547
|
0.00001
|
NM_000038.6(APC):c.6710G>A (p.Arg2237Gln)
|
rs1299714632
|
0.00001
|
NM_000038.6(APC):c.6736G>A (p.Val2246Ile)
|
rs1055180096
|
0.00001
|
NM_000038.6(APC):c.6965A>G (p.Gln2322Arg)
|
rs1057517549
|
0.00001
|
NM_000038.6(APC):c.737C>T (p.Ser246Phe)
|
rs754667638
|
0.00001
|
NM_000038.6(APC):c.7389A>C (p.Glu2463Asp)
|
rs587782127
|
0.00001
|
NM_000038.6(APC):c.7720C>A (p.Leu2574Ile)
|
rs876659753
|
0.00001
|
NM_000038.6(APC):c.7778A>G (p.Asn2593Ser)
|
rs367676584
|
0.00001
|
NM_000038.6(APC):c.7822G>A (p.Ala2608Thr)
|
rs878853471
|
0.00001
|
NM_000038.6(APC):c.7916A>C (p.Glu2639Ala)
|
rs778376399
|
0.00001
|
NM_000038.6(APC):c.8134C>T (p.Pro2712Ser)
|
rs76933416
|
0.00001
|
NM_000038.6(APC):c.8161C>T (p.Arg2721Cys)
|
rs587782312
|
0.00001
|
NM_000038.6(APC):c.8275C>T (p.Arg2759Cys)
|
rs755366812
|
0.00001
|
NM_000038.6(APC):c.8524T>G (p.Ser2842Ala)
|
rs587780610
|
0.00001
|
NM_000044.6(AR):c.1175C>G (p.Pro392Arg)
|
rs773996740
|
0.00001
|
NM_000044.6(AR):c.2184C>G (p.Asn728Lys)
|
rs768869912
|
0.00001
|
NM_000044.6(AR):c.2191G>A (p.Val731Met)
|
rs137852571
|
0.00001
|
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs)
|
rs757109353
|
0.00001
|
NM_000048.4(ASL):c.283C>T (p.Arg95Cys)
|
rs28940585
|
0.00001
|
NM_000051.4(ATM):c.1049C>T (p.Ala350Val)
|
rs375049090
|
0.00001
|
NM_000051.4(ATM):c.104G>A (p.Arg35Gln)
|
rs876659324
|
0.00001
|
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)
|
rs202173660
|
0.00001
|
NM_000051.4(ATM):c.149A>G (p.Lys50Arg)
|
rs1479478300
|
0.00001
|
NM_000051.4(ATM):c.2167G>T (p.Val723Leu)
|
rs1419404231
|
0.00001
|
NM_000051.4(ATM):c.2336T>C (p.Met779Thr)
|
rs587778066
|
0.00001
|
NM_000051.4(ATM):c.2492A>G (p.Asp831Gly)
|
rs587781352
|
0.00001
|
NM_000051.4(ATM):c.2879C>A (p.Pro960His)
|
rs587779828
|
0.00001
|
NM_000051.4(ATM):c.2922-8T>A
|
rs545892367
|
0.00001
|
NM_000051.4(ATM):c.2924A>G (p.Asn975Ser)
|
rs730881354
|
0.00001
|
NM_000051.4(ATM):c.3240C>A (p.Asp1080Glu)
|
rs149911447
|
0.00001
|
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys)
|
rs201780199
|
0.00001
|
NM_000051.4(ATM):c.3299C>T (p.Thr1100Met)
|
rs189445371
|
0.00001
|
NM_000051.4(ATM):c.3407A>G (p.His1136Arg)
|
rs768490475
|
0.00001
|
NM_000051.4(ATM):c.3549T>C (p.Asn1183=)
|
rs767377764
|
0.00001
|
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)
|
rs587776551
|
0.00001
|
NM_000051.4(ATM):c.3613C>T (p.Arg1205Cys)
|
rs760928285
|
0.00001
|
NM_000051.4(ATM):c.3676G>C (p.Asp1226His)
|
rs370974808
|
0.00001
|
NM_000051.4(ATM):c.4012A>G (p.Ser1338Gly)
|
rs958750512
|
0.00001
|
NM_000051.4(ATM):c.4091A>G (p.Asp1364Gly)
|
rs751169467
|
0.00001
|
NM_000051.4(ATM):c.4151A>G (p.His1384Arg)
|
rs757172522
|
0.00001
|
NM_000051.4(ATM):c.4468A>G (p.Ser1490Gly)
|
rs876658711
|
0.00001
|
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn)
|
rs587782506
|
0.00001
|
NM_000051.4(ATM):c.5362G>A (p.Gly1788Ser)
|
rs730881373
|
0.00001
|
NM_000051.4(ATM):c.5658T>C (p.Pro1886=)
|
rs940182945
|
0.00001
|
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys)
|
rs56399311
|
0.00001
|
NM_000051.4(ATM):c.6134C>A (p.Ala2045Asp)
|
rs879254147
|
0.00001
|
NM_000051.4(ATM):c.655T>C (p.Cys219Arg)
|
rs771685059
|
0.00001
|
NM_000051.4(ATM):c.6670A>G (p.Met2224Val)
|
rs545873723
|
0.00001
|
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)
|
rs564652222
|
0.00001
|
NM_000051.4(ATM):c.6681C>T (p.Arg2227=)
|
rs775850434
|
0.00001
|
NM_000051.4(ATM):c.6848C>T (p.Ser2283Leu)
|
rs876660730
|
0.00001
|
NM_000051.4(ATM):c.6929G>A (p.Ser2310Asn)
|
rs1381019767
|
0.00001
|
NM_000051.4(ATM):c.692A>G (p.His231Arg)
|
rs587782229
|
0.00001
|
NM_000051.4(ATM):c.6974C>T (p.Ala2325Val)
|
rs200940211
|
0.00001
|
NM_000051.4(ATM):c.718C>T (p.Leu240Phe)
|
rs1210038351
|
0.00001
|
NM_000051.4(ATM):c.7316T>C (p.Val2439Ala)
|
rs776266049
|
0.00001
|
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr)
|
rs774281788
|
0.00001
|
NM_000051.4(ATM):c.7630-2A>C
|
rs587779866
|
0.00001
|
NM_000051.4(ATM):c.7871G>C (p.Cys2624Ser)
|
rs759392666
|
0.00001
|
NM_000051.4(ATM):c.7880A>G (p.Tyr2627Cys)
|
rs767670019
|
0.00001
|
NM_000051.4(ATM):c.7993C>G (p.Pro2665Ala)
|
rs1555126304
|
0.00001
|
NM_000051.4(ATM):c.8155C>T (p.Arg2719Cys)
|
rs138526014
|
0.00001
|
NM_000051.4(ATM):c.8228C>T (p.Thr2743Met)
|
rs730881321
|
0.00001
|
NM_000051.4(ATM):c.8275C>T (p.Pro2759Ser)
|
rs764906663
|
0.00001
|
NM_000051.4(ATM):c.8438T>C (p.Phe2813Ser)
|
rs1555138027
|
0.00001
|
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)
|
rs587779872
|
0.00001
|
NM_000051.4(ATM):c.8497T>C (p.Tyr2833His)
|
rs774171813
|
0.00001
|
NM_000051.4(ATM):c.8576C>T (p.Ser2859Phe)
|
rs786203542
|
0.00001
|
NM_000051.4(ATM):c.902-22A>C
|
rs766650801
|
0.00001
|
NM_000051.4(ATM):c.9023G>A (p.Arg3008His)
|
rs587781894
|
0.00001
|
NM_000051.4(ATM):c.9166G>T (p.Val3056Leu)
|
rs371767164
|
0.00001
|
NM_000051.4(ATM):c.94C>T (p.Arg32Cys)
|
rs148061139
|
0.00001
|
NM_000053.4(ATP7B):c.2762G>A (p.Ser921Asn)
|
rs1230241288
|
0.00001
|
NM_000053.4(ATP7B):c.3959G>C (p.Arg1320Thr)
|
rs548512104
|
0.00001
|
NM_000053.4(ATP7B):c.3964C>T (p.Arg1322Cys)
|
rs534984209
|
0.00001
|
NM_000053.4(ATP7B):c.51+4A>T
|
rs369488210
|
0.00001
|
NM_000054.7(AVPR2):c.784G>A (p.Val262Met)
|
rs1557100878
|
0.00001
|
NM_000057.4(BLM):c.1417A>G (p.Thr473Ala)
|
rs1596229797
|
0.00001
|
NM_000057.4(BLM):c.1613C>T (p.Ala538Val)
|
rs778593808
|
0.00001
|
NM_000057.4(BLM):c.2258T>A (p.Leu753Ter)
|
rs1400231534
|
0.00001
|
NM_000057.4(BLM):c.2474C>T (p.Pro825Leu)
|
rs749632465
|
0.00001
|
NM_000057.4(BLM):c.2497G>A (p.Ala833Thr)
|
rs763918749
|
0.00001
|
NM_000057.4(BLM):c.2561G>A (p.Ser854Asn)
|
rs758692622
|
0.00001
|
NM_000057.4(BLM):c.2784T>C (p.Asp928=)
|
rs1032746564
|
0.00001
|
NM_000057.4(BLM):c.302G>C (p.Arg101Thr)
|
rs781707344
|
0.00001
|
NM_000057.4(BLM):c.3098T>C (p.Ile1033Thr)
|
rs1060500647
|
0.00001
|
NM_000057.4(BLM):c.3875-2A>G
|
rs150421256
|
0.00001
|
NM_000057.4(BLM):c.3875-6T>C
|
rs1021714718
|
0.00001
|
NM_000057.4(BLM):c.472G>A (p.Asp158Asn)
|
rs1210664602
|
0.00001
|
NM_000057.4(BLM):c.572G>T (p.Arg191Ile)
|
rs569086568
|
0.00001
|
NM_000057.4(BLM):c.635C>T (p.Ser212Phe)
|
rs777938065
|
0.00001
|
NM_000059.4(BRCA2):c.10076A>G (p.Glu3359Gly)
|
rs80358389
|
0.00001
|
NM_000059.4(BRCA2):c.10150C>T (p.Arg3384Ter)
|
rs397507568
|
0.00001
|
NM_000059.4(BRCA2):c.1244A>G (p.His415Arg)
|
rs80358417
|
0.00001
|
NM_000059.4(BRCA2):c.1343G>A (p.Arg448His)
|
rs80358423
|
0.00001
|
NM_000059.4(BRCA2):c.1441A>G (p.Ile481Val)
|
rs760559435
|
0.00001
|
NM_000059.4(BRCA2):c.1550A>G (p.Asn517Ser)
|
rs80358439
|
0.00001
|
NM_000059.4(BRCA2):c.2127G>C (p.Leu709=)
|
rs554040246
|
0.00001
|
NM_000059.4(BRCA2):c.2148G>C (p.Gln716His)
|
rs876659550
|
0.00001
|
NM_000059.4(BRCA2):c.2401A>G (p.Asn801Asp)
|
rs765279896
|
0.00001
|
NM_000059.4(BRCA2):c.2452A>C (p.Asn818His)
|
rs750667529
|
0.00001
|
NM_000059.4(BRCA2):c.2491G>A (p.Val831Ile)
|
rs397507287
|
0.00001
|
NM_000059.4(BRCA2):c.2601T>G (p.Thr867=)
|
rs730881589
|
0.00001
|
NM_000059.4(BRCA2):c.2729A>G (p.His910Arg)
|
rs760792501
|
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.2830A>T (p.Lys944Ter)
|
rs80358533
|
0.00001
|
NM_000059.4(BRCA2):c.2918C>T (p.Ser973Leu)
|
rs397507296
|
0.00001
|
NM_000059.4(BRCA2):c.2946A>G (p.Ile982Met)
|
rs80358541
|
0.00001
|
NM_000059.4(BRCA2):c.2T>G (p.Met1Arg)
|
rs80358547
|
0.00001
|
NM_000059.4(BRCA2):c.3088T>G (p.Phe1030Val)
|
rs80358554
|
0.00001
|
NM_000059.4(BRCA2):c.3245A>G (p.Lys1082Arg)
|
rs80358569
|
0.00001
|
NM_000059.4(BRCA2):c.3264dup (p.Gln1089fs)
|
rs80359380
|
0.00001
|
NM_000059.4(BRCA2):c.3509C>T (p.Ala1170Val)
|
rs80358599
|
0.00001
|
NM_000059.4(BRCA2):c.375T>A (p.Asp125Glu)
|
rs80358616
|
0.00001
|
NM_000059.4(BRCA2):c.3767A>C (p.His1256Pro)
|
rs80358618
|
0.00001
|
NM_000059.4(BRCA2):c.3814A>G (p.Met1272Val)
|
rs80358624
|
0.00001
|
NM_000059.4(BRCA2):c.4023A>C (p.Ser1341=)
|
rs276174840
|
0.00001
|
NM_000059.4(BRCA2):c.4183G>T (p.Ala1395Ser)
|
rs431825318
|
0.00001
|
NM_000059.4(BRCA2):c.438A>G (p.Leu146=)
|
rs200942633
|
0.00001
|
NM_000059.4(BRCA2):c.449A>G (p.His150Arg)
|
rs397507722
|
0.00001
|
NM_000059.4(BRCA2):c.5120C>T (p.Thr1707Ile)
|
rs786202354
|
0.00001
|
NM_000059.4(BRCA2):c.5182G>A (p.Asp1728Asn)
|
rs80358744
|
0.00001
|
NM_000059.4(BRCA2):c.5207A>G (p.Gln1736Arg)
|
rs1183489363
|
0.00001
|
NM_000059.4(BRCA2):c.5284T>G (p.Tyr1762Asp)
|
rs1192019733
|
0.00001
|
NM_000059.4(BRCA2):c.5590G>A (p.Asp1864Asn)
|
rs587781536
|
0.00001
|
NM_000059.4(BRCA2):c.562G>A (p.Val188Met)
|
rs1555281063
|
0.00001
|
NM_000059.4(BRCA2):c.5729A>T (p.Asn1910Ile)
|
rs276174863
|
0.00001
|
NM_000059.4(BRCA2):c.5882G>A (p.Ser1961Asn)
|
rs80358820
|
0.00001
|
NM_000059.4(BRCA2):c.5885T>C (p.Ile1962Thr)
|
rs1060502377
|
0.00001
|
NM_000059.4(BRCA2):c.6131G>T (p.Gly2044Val)
|
rs56191579
|
0.00001
|
NM_000059.4(BRCA2):c.6281A>G (p.Tyr2094Cys)
|
rs397507838
|
0.00001
|
NM_000059.4(BRCA2):c.6386A>G (p.Glu2129Gly)
|
rs1566234469
|
0.00001
|
NM_000059.4(BRCA2):c.6399_6401del (p.Asn2135del)
|
rs80359581
|
0.00001
|
NM_000059.4(BRCA2):c.6443C>A (p.Ser2148Tyr)
|
rs80358880
|
0.00001
|
NM_000059.4(BRCA2):c.6842-19A>G
|
rs81002865
|
0.00001
|
NM_000059.4(BRCA2):c.6953G>A (p.Arg2318Gln)
|
rs80358921
|
0.00001
|
NM_000059.4(BRCA2):c.6991A>G (p.Thr2331Ala)
|
rs80358926
|
0.00001
|
NM_000059.4(BRCA2):c.7180A>T (p.Arg2394Ter)
|
rs80358946
|
0.00001
|
NM_000059.4(BRCA2):c.7307A>T (p.Asn2436Ile)
|
rs80358955
|
0.00001
|
NM_000059.4(BRCA2):c.7463G>A (p.Arg2488Lys)
|
rs80358968
|
0.00001
|
NM_000059.4(BRCA2):c.7481G>A (p.Arg2494Gln)
|
rs80358973
|
0.00001
|
NM_000059.4(BRCA2):c.754G>A (p.Asp252Asn)
|
rs549269828
|
0.00001
|
NM_000059.4(BRCA2):c.7618-19G>T
|
rs371417084
|
0.00001
|
NM_000059.4(BRCA2):c.7633G>A (p.Val2545Ile)
|
rs80358990
|
0.00001
|
NM_000059.4(BRCA2):c.7871A>G (p.Tyr2624Cys)
|
rs431825358
|
0.00001
|
NM_000059.4(BRCA2):c.7928C>G (p.Ala2643Gly)
|
rs80359018
|
0.00001
|
NM_000059.4(BRCA2):c.793+1G>A
|
rs81002846
|
0.00001
|
NM_000059.4(BRCA2):c.7930A>G (p.Asn2644Asp)
|
rs431825360
|
0.00001
|
NM_000059.4(BRCA2):c.7992T>A (p.Ile2664=)
|
rs80359800
|
0.00001
|
NM_000059.4(BRCA2):c.7A>G (p.Ile3Val)
|
rs770479195
|
0.00001
|
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu)
|
rs80359035
|
0.00001
|
NM_000059.4(BRCA2):c.811G>A (p.Gly271Arg)
|
rs786204274
|
0.00001
|
NM_000059.4(BRCA2):c.8153T>C (p.Ile2718Thr)
|
rs80359060
|
0.00001
|
NM_000059.4(BRCA2):c.8243G>A (p.Gly2748Asp)
|
rs80359071
|
0.00001
|
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)
|
rs80359075
|
0.00001
|
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln)
|
rs80359076
|
0.00001
|
NM_000059.4(BRCA2):c.8518A>G (p.Ile2840Val)
|
rs80359103
|
0.00001
|
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys)
|
rs80359104
|
0.00001
|
NM_000059.4(BRCA2):c.8647C>T (p.Pro2883Ser)
|
rs80359122
|
0.00001
|
NM_000059.4(BRCA2):c.8668C>A (p.Leu2890Ile)
|
rs80359127
|
0.00001
|
NM_000059.4(BRCA2):c.8686C>T (p.Arg2896Cys)
|
rs373203204
|
0.00001
|
NM_000059.4(BRCA2):c.8764A>G (p.Ser2922Gly)
|
rs80359132
|
0.00001
|
NM_000059.4(BRCA2):c.8902A>G (p.Thr2968Ala)
|
rs587782021
|
0.00001
|
NM_000059.4(BRCA2):c.8997G>A (p.Leu2999=)
|
rs80359804
|
0.00001
|
NM_000059.4(BRCA2):c.9117G>A (p.Pro3039=)
|
rs28897756
|
0.00001
|
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp)
|
rs45580035
|
0.00001
|
NM_000059.4(BRCA2):c.9242T>C (p.Val3081Ala)
|
rs80359189
|
0.00001
|
NM_000059.4(BRCA2):c.9304G>A (p.Ala3102Thr)
|
rs747073940
|
0.00001
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
NM_000059.4(BRCA2):c.9442G>T (p.Ala3148Ser)
|
rs949790323
|
0.00001
|
NM_000059.4(BRCA2):c.9645T>A (p.Leu3215=)
|
rs755111487
|
0.00001
|
NM_000059.4(BRCA2):c.9649-45G>C
|
rs376783622
|
0.00001
|
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln)
|
rs11571640
|
0.00001
|
NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp)
|
rs772226819
|
0.00001
|
NM_000075.4(CDK4):c.520G>A (p.Val174Met)
|
rs780052789
|
0.00001
|
NM_000075.4(CDK4):c.632+9C>T
|
rs1192976748
|
0.00001
|
NM_000075.4(CDK4):c.660C>T (p.Ala220=)
|
rs773490152
|
0.00001
|
NM_000075.4(CDK4):c.689T>C (p.Ile230Thr)
|
rs760435132
|
0.00001
|
NM_000075.4(CDK4):c.841C>T (p.His281Tyr)
|
rs876659522
|
0.00001
|
NM_000077.5(CDKN2A):c.151-66A>G
|
rs890179220
|
0.00001
|
NM_000077.5(CDKN2A):c.259C>T (p.Arg87Trp)
|
rs749714198
|
0.00001
|
NM_000077.5(CDKN2A):c.315C>A (p.Asp105Glu)
|
rs763269347
|
0.00001
|
NM_000077.5(CDKN2A):c.32C>T (p.Pro11Leu)
|
rs1374664673
|
0.00001
|
NM_000077.5(CDKN2A):c.333C>T (p.Gly111=)
|
rs1490202463
|
0.00001
|
NM_000077.5(CDKN2A):c.458-525G>T
|
rs1448745459
|
0.00001
|
NM_000079.4(CHRNA1):c.436_437insTG (p.Ser146fs)
|
rs1683926600
|
0.00001
|
NM_000083.3(CLCN1):c.1478C>A (p.Ala493Glu)
|
rs770900468
|
0.00001
|
NM_000088.4(COL1A1):c.1875+3G>T
|
rs138164489
|
0.00001
|
NM_000092.5(COL4A4):c.735G>A (p.Pro245=)
|
rs923865420
|
0.00001
|
NM_000094.4(COL7A1):c.6130C>T (p.Leu2044Phe)
|
rs756037004
|
0.00001
|
NM_000094.4(COL7A1):c.8107C>T (p.Arg2703Trp)
|
rs759039839
|
0.00001
|
NM_000122.2(ERCC3):c.1933C>T (p.Arg645Ter)
|
rs1404157087
|
0.00001
|
NM_000122.2(ERCC3):c.2263G>A (p.Asp755Asn)
|
rs115312738
|
0.00001
|
NM_000132.4(F8):c.1834C>T (p.Arg612Cys)
|
rs137852428
|
0.00001
|
NM_000132.4(F8):c.3986G>A (p.Arg1329His)
|
rs782767347
|
0.00001
|
NM_000132.4(F8):c.5012G>A (p.Arg1671His)
|
rs782166477
|
0.00001
|
NM_000132.4(F8):c.5976G>A (p.Met1992Ile)
|
rs782510443
|
0.00001
|
NM_000132.4(F8):c.6304G>A (p.Gly2102Ser)
|
rs200433372
|
0.00001
|
NM_000132.4(F8):c.6623A>G (p.Gln2208Arg)
|
rs782198570
|
0.00001
|
NM_000133.4(F9):c.109G>A (p.Ala37Thr)
|
rs367569299
|
0.00001
|
NM_000133.4(F9):c.572G>A (p.Arg191His)
|
rs137852238
|
0.00001
|
NM_000133.4(F9):c.890T>A (p.Ile297Asn)
|
rs752084251
|
0.00001
|
NM_000135.4(FANCA):c.3366C>T (p.His1122=)
|
rs771815968
|
0.00001
|
NM_000135.4(FANCA):c.695G>A (p.Arg232Lys)
|
rs886052487
|
0.00001
|
NM_000136.3(FANCC):c.-87G>A
|
rs1051113986
|
0.00001
|
NM_000136.3(FANCC):c.1069C>G (p.Gln357Glu)
|
rs759900071
|
0.00001
|
NM_000136.3(FANCC):c.1155-29A>G
|
rs759352163
|
0.00001
|
NM_000136.3(FANCC):c.1275C>G (p.Leu425=)
|
rs767126985
|
0.00001
|
NM_000136.3(FANCC):c.1534-18C>T
|
rs1289718209
|
0.00001
|
NM_000136.3(FANCC):c.166-5C>T
|
rs753820400
|
0.00001
|
NM_000136.3(FANCC):c.166-9C>G
|
rs372507085
|
0.00001
|
NM_000136.3(FANCC):c.668T>C (p.Val223Ala)
|
rs751410815
|
0.00001
|
NM_000136.3(FANCC):c.839C>T (p.Ser280Leu)
|
rs749230615
|
0.00001
|
NM_000136.3(FANCC):c.871T>C (p.Phe291Leu)
|
rs769649289
|
0.00001
|
NM_000137.4(FAH):c.1213T>C (p.Phe405Leu)
|
rs1341466471
|
0.00001
|
NM_000137.4(FAH):c.1214T>A (p.Phe405Tyr)
|
rs1595899559
|
0.00001
|
NM_000138.5(FBN1):c.3184G>A (p.Asp1062Asn)
|
rs758366498
|
0.00001
|
NM_000138.5(FBN1):c.3571G>A (p.Asp1191Asn)
|
rs370121450
|
0.00001
|
NM_000138.5(FBN1):c.814A>C (p.Lys272Gln)
|
rs762276905
|
0.00001
|
NM_000140.5(FECH):c.599-3C>T
|
rs765069812
|
0.00001
|
NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu)
|
rs79184941
|
0.00001
|
NM_000142.5(FGFR3):c.514G>A (p.Val172Ile)
|
rs529408918
|
0.00001
|
NM_000151.4(G6PC1):c.355C>T (p.His119Tyr)
|
rs1332616844
|
0.00001
|
NM_000153.4(GALC):c.1174T>C (p.Ser392Pro)
|
rs1200769534
|
0.00001
|
NM_000153.4(GALC):c.1630G>A (p.Asp544Asn)
|
rs387906952
|
0.00001
|
NM_000153.4(GALC):c.916G>A (p.Ala306Thr)
|
rs1349064845
|
0.00001
|
NM_000156.6(GAMT):c.467C>A (p.Ala156Asp)
|
rs368221789
|
0.00001
|
NM_000157.4(GBA1):c.259C>T (p.Arg87Trp)
|
rs1141814
|
0.00001
|
NM_000158.4(GBE1):c.1064G>A (p.Arg355His)
|
rs869312919
|
0.00001
|
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu)
|
rs139851890
|
0.00001
|
NM_000166.6(GJB1):c.415G>A (p.Val139Met)
|
rs104894812
|
0.00001
|
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala)
|
rs397515869
|
0.00001
|
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp)
|
rs150171524
|
0.00001
|
NM_000170.3(GLDC):c.2441C>T (p.Ser814Phe)
|
rs763075374
|
0.00001
|
NM_000170.3(GLDC):c.799C>G (p.Pro267Ala)
|
rs1554648117
|
0.00001
|
NM_000171.4(GLRA1):c.1213C>T (p.Arg405Ter)
|
rs375152105
|
0.00001
|
NM_000179.3(MSH6):c.1127A>G (p.Glu376Gly)
|
rs764150912
|
0.00001
|
NM_000179.3(MSH6):c.1190A>G (p.Tyr397Cys)
|
rs63750065
|
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.1623C>T (p.Ser541=)
|
rs777678406
|
0.00001
|
NM_000179.3(MSH6):c.2107A>G (p.Met703Val)
|
rs751867550
|
0.00001
|
NM_000179.3(MSH6):c.2400T>C (p.Val800=)
|
rs267608071
|
0.00001
|
NM_000179.3(MSH6):c.2419G>A (p.Glu807Lys)
|
rs587779923
|
0.00001
|
NM_000179.3(MSH6):c.2629G>A (p.Glu877Lys)
|
rs730881797
|
0.00001
|
NM_000179.3(MSH6):c.2640_2641insAAA (p.Asp880_Gly881insLys)
|
rs1252374906
|
0.00001
|
NM_000179.3(MSH6):c.2641G>A (p.Gly881Ser)
|
rs998186339
|
0.00001
|
NM_000179.3(MSH6):c.2653A>G (p.Lys885Glu)
|
rs587782593
|
0.00001
|
NM_000179.3(MSH6):c.2693C>G (p.Pro898Arg)
|
rs876661281
|
0.00001
|
NM_000179.3(MSH6):c.2982C>T (p.Tyr994=)
|
rs367758473
|
0.00001
|
NM_000179.3(MSH6):c.3300G>A (p.Thr1100=)
|
rs540252208
|
0.00001
|
NM_000179.3(MSH6):c.3452C>G (p.Ala1151Gly)
|
rs587782625
|
0.00001
|
NM_000179.3(MSH6):c.3598A>G (p.Ile1200Val)
|
rs781627838
|
0.00001
|
NM_000179.3(MSH6):c.3841G>C (p.Glu1281Gln)
|
rs876659115
|
0.00001
|
NM_000179.3(MSH6):c.3847A>G (p.Ile1283Val)
|
rs144714869
|
0.00001
|
NM_000179.3(MSH6):c.3936T>C (p.Val1312=)
|
rs61753796
|
0.00001
|
NM_000179.3(MSH6):c.4002-4T>C
|
rs370428032
|
0.00001
|
NM_000179.3(MSH6):c.533G>A (p.Arg178His)
|
rs786204186
|
0.00001
|
NM_000179.3(MSH6):c.998C>T (p.Thr333Ile)
|
rs587781983
|
0.00001
|
NM_000180.4(GUCY2D):c.2563C>T (p.Gln855Ter)
|
rs1555635778
|
0.00001
|
NM_000180.4(GUCY2D):c.2598G>C (p.Lys866Asn)
|
rs201587670
|
0.00001
|
NM_000180.4(GUCY2D):c.2620G>A (p.Glu874Lys)
|
rs1001538483
|
0.00001
|
NM_000184.3(HBG2):c.62T>C (p.Val21Ala)
|
rs63751196
|
0.00001
|
NM_000191.3(HMGCL):c.392C>T (p.Ser131Leu)
|
rs1570650181
|
0.00001
|
NM_000203.5(IDUA):c.245A>C (p.His82Pro)
|
rs794727239
|
0.00001
|
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro)
|
rs794726878
|
0.00001
|
NM_000208.4(INSR):c.2572A>G (p.Thr858Ala)
|
rs182552223
|
0.00001
|
NM_000214.3(JAG1):c.203G>C (p.Arg68Pro)
|
rs892275570
|
0.00001
|
NM_000215.4(JAK3):c.1208G>A (p.Arg403His)
|
rs1599876167
|
0.00001
|
NM_000215.4(JAK3):c.1645C>T (p.Arg549Ter)
|
rs1011307501
|
0.00001
|
NM_000218.3(KCNQ1):c.1032G>A (p.Ala344=)
|
rs1800171
|
0.00001
|
NM_000218.3(KCNQ1):c.1556G>A (p.Arg519His)
|
rs199472788
|
0.00001
|
NM_000222.3(KIT):c.2848G>A (p.Val950Met)
|
rs146374006
|
0.00001
|
NM_000237.3(LPL):c.685C>G (p.His229Asp)
|
rs769439327
|
0.00001
|
NM_000237.3(LPL):c.701C>T (p.Pro234Leu)
|
rs118204060
|
0.00001
|
NM_000238.4(KCNH2):c.3095G>A (p.Arg1032Gln)
|
rs199473020
|
0.00001
|
NM_000243.3(MEFV):c.1420G>A (p.Glu474Lys)
|
rs104895104
|
0.00001
|
NM_000243.3(MEFV):c.1508C>G (p.Ser503Cys)
|
rs190705322
|
0.00001
|
NM_000243.3(MEFV):c.1744A>C (p.Met582Leu)
|
rs104895165
|
0.00001
|
NM_000243.3(MEFV):c.1784C>T (p.Ala595Val)
|
rs104895191
|
0.00001
|
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser)
|
rs104895128
|
0.00001
|
NM_000243.3(MEFV):c.2160C>G (p.Ile720Met)
|
rs104895102
|
0.00001
|
NM_000243.3(MEFV):c.2314A>G (p.Ile772Val)
|
rs104895163
|
0.00001
|
NM_000243.3(MEFV):c.2338C>A (p.Pro780Thr)
|
rs104895154
|
0.00001
|
NM_000243.3(MEFV):c.422G>T (p.Ser141Ile)
|
rs104895130
|
0.00001
|
NM_000243.3(MEFV):c.530C>T (p.Thr177Ile)
|
rs104895143
|
0.00001
|
NM_000243.3(MEFV):c.589G>C (p.Gly197Arg)
|
rs765450054
|
0.00001
|
NM_000243.3(MEFV):c.688G>A (p.Glu230Lys)
|
rs104895080
|
0.00001
|
NM_000243.3(MEFV):c.848C>T (p.Pro283Leu)
|
rs104895119
|
0.00001
|
NM_000243.3(MEFV):c.863C>A (p.Ser288Tyr)
|
rs387907567
|
0.00001
|
NM_000245.4(MET):c.1171G>A (p.Gly391Arg)
|
rs587778443
|
0.00001
|
NM_000245.4(MET):c.1238G>A (p.Arg413His)
|
rs375391602
|
0.00001
|
NM_000245.4(MET):c.1306G>A (p.Glu436Lys)
|
rs200740468
|
0.00001
|
NM_000245.4(MET):c.1444G>A (p.Asp482Asn)
|
rs863224694
|
0.00001
|
NM_000245.4(MET):c.1451A>G (p.His484Arg)
|
rs781545528
|
0.00001
|
NM_000245.4(MET):c.1904A>G (p.Asn635Ser)
|
rs773826297
|
0.00001
|
NM_000245.4(MET):c.2102+7T>C
|
rs1584941903
|
0.00001
|
NM_000245.4(MET):c.215T>C (p.Val72Ala)
|
rs973796037
|
0.00001
|
NM_000245.4(MET):c.2192G>A (p.Arg731Gln)
|
rs45446492
|
0.00001
|
NM_000245.4(MET):c.2716G>A (p.Glu906Lys)
|
rs778115147
|
0.00001
|
NM_000245.4(MET):c.305G>A (p.Ser102Asn)
|
rs779897466
|
0.00001
|
NM_000245.4(MET):c.3274G>A (p.Val1092Ile)
|
rs786202724
|
0.00001
|
NM_000245.4(MET):c.362T>C (p.Val121Ala)
|
rs879254339
|
0.00001
|
NM_000245.4(MET):c.3878C>G (p.Thr1293Ser)
|
rs779121848
|
0.00001
|
NM_000246.4(CIITA):c.170C>A (p.Ala57Asp)
|
rs1555500356
|
0.00001
|
NM_000249.4(MLH1):c.1043T>C (p.Leu348Ser)
|
rs755401753
|
0.00001
|
NM_000249.4(MLH1):c.1216A>G (p.Ser406Gly)
|
rs864622687
|
0.00001
|
NM_000249.4(MLH1):c.1344G>T (p.Glu448Asp)
|
rs587779952
|
0.00001
|
NM_000249.4(MLH1):c.1421G>A (p.Arg474Gln)
|
rs63751083
|
0.00001
|
NM_000249.4(MLH1):c.1541A>G (p.Asn514Ser)
|
rs772245091
|
0.00001
|
NM_000249.4(MLH1):c.1682A>G (p.Tyr561Cys)
|
rs1289807424
|
0.00001
|
NM_000249.4(MLH1):c.1876T>C (p.Phe626Leu)
|
rs377241633
|
0.00001
|
NM_000249.4(MLH1):c.1896+7C>T
|
rs863224339
|
0.00001
|
NM_000249.4(MLH1):c.1990-6G>A
|
rs117221851
|
0.00001
|
NM_000249.4(MLH1):c.2104-22T>G
|
rs267607890
|
0.00001
|
NM_000249.4(MLH1):c.2107G>A (p.Glu703Lys)
|
rs747727493
|
0.00001
|
NM_000249.4(MLH1):c.351G>A (p.Thr117=)
|
rs61751643
|
0.00001
|
NM_000249.4(MLH1):c.5C>T (p.Ser2Leu)
|
rs587779029
|
0.00001
|
NM_000249.4(MLH1):c.652T>C (p.Ser218Pro)
|
rs750650349
|
0.00001
|
NM_000249.4(MLH1):c.743A>G (p.Asn248Ser)
|
rs587782800
|
0.00001
|
NM_000249.4(MLH1):c.845C>G (p.Ala282Gly)
|
rs63750360
|
0.00001
|
NM_000249.4(MLH1):c.885-5G>T
|
rs267607802
|
0.00001
|
NM_000251.3(MSH2):c.1130A>G (p.Gln377Arg)
|
rs776174711
|
0.00001
|
NM_000251.3(MSH2):c.1462T>G (p.Leu488Val)
|
rs587781314
|
0.00001
|
NM_000251.3(MSH2):c.1489A>G (p.Ile497Val)
|
rs755501968
|
0.00001
|
NM_000251.3(MSH2):c.1571G>A (p.Arg524His)
|
rs63751207
|
0.00001
|
NM_000251.3(MSH2):c.1967A>G (p.Tyr656Cys)
|
rs185356145
|
0.00001
|
NM_000251.3(MSH2):c.2039G>A (p.Arg680Gln)
|
rs1203462814
|
0.00001
|
NM_000251.3(MSH2):c.2064G>A (p.Met688Ile)
|
rs63750790
|
0.00001
|
NM_000251.3(MSH2):c.2110A>G (p.Ile704Val)
|
rs730881764
|
0.00001
|
NM_000251.3(MSH2):c.2111T>C (p.Ile704Thr)
|
rs564657106
|
0.00001
|
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)
|
rs63750636
|
0.00001
|
NM_000251.3(MSH2):c.2437A>G (p.Met813Val)
|
rs63749841
|
0.00001
|
NM_000251.3(MSH2):c.2606C>A (p.Ala869Glu)
|
rs730881772
|
0.00001
|
NM_000251.3(MSH2):c.274C>G (p.Leu92Val)
|
rs587779154
|
0.00001
|
NM_000251.3(MSH2):c.386C>G (p.Ser129Cys)
|
rs587779972
|
0.00001
|
NM_000251.3(MSH2):c.459C>T (p.Ser153=)
|
rs63751065
|
0.00001
|
NM_000251.3(MSH2):c.716A>G (p.Gln239Arg)
|
rs199676483
|
0.00001
|
NM_000251.3(MSH2):c.992A>G (p.Asn331Ser)
|
rs779673318
|
0.00001
|
NM_000256.3(MYBPC3):c.1147C>G (p.Leu383Val)
|
rs11570077
|
0.00001
|
NM_000256.3(MYBPC3):c.1227-13G>A
|
rs397515893
|
0.00001
|
NM_000256.3(MYBPC3):c.1363C>T (p.Leu455Phe)
|
rs747686377
|
0.00001
|
NM_000256.3(MYBPC3):c.3763G>A (p.Ala1255Thr)
|
rs727503167
|
0.00001
|
NM_000256.3(MYBPC3):c.817C>T (p.Arg273Cys)
|
rs551119259
|
0.00001
|
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys)
|
rs121913651
|
0.00001
|
NM_000257.4(MYH7):c.3152C>T (p.Ala1051Val)
|
rs727504358
|
0.00001
|
NM_000260.4(MYO7A):c.1708C>T (p.Arg570Ter)
|
rs1591310948
|
0.00001
|
NM_000260.4(MYO7A):c.4360G>A (p.Val1454Ile)
|
rs397516309
|
0.00001
|
NM_000260.4(MYO7A):c.6026C>A (p.Ala2009Asp)
|
rs1173853484
|
0.00001
|
NM_000261.2(MYOC):c.473G>A (p.Arg158Gln)
|
rs199746824
|
0.00001
|
NM_000261.2(MYOC):c.767C>T (p.Thr256Met)
|
rs200072086
|
0.00001
|
NM_000263.4(NAGLU):c.700C>T (p.Arg234Cys)
|
rs104894601
|
0.00001
|
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn)
|
rs1052471595
|
0.00001
|
NM_000268.4(NF2):c.1445C>T (p.Pro482Leu)
|
rs766339217
|
0.00001
|
NM_000268.4(NF2):c.952G>A (p.Val318Ile)
|
rs996057882
|
0.00001
|
NM_000271.5(NPC1):c.2292G>A (p.Ala764=)
|
rs772565983
|
0.00001
|
NM_000271.5(NPC1):c.2972del (p.Gln991fs)
|
rs1567948623
|
0.00001
|
NM_000271.5(NPC1):c.3394G>A (p.Ala1132Thr)
|
rs1046046139
|
0.00001
|
NM_000282.4(PCCA):c.1118T>A (p.Met373Lys)
|
rs121964958
|
0.00001
|
NM_000284.4(PDHA1):c.292-27T>G
|
rs1389638523
|
0.00001
|
NM_000287.4(PEX6):c.510_511del (p.Asp172fs)
|
rs61753211
|
0.00001
|
NM_000292.3(PHKA2):c.1499G>A (p.Arg500Gln)
|
rs753412659
|
0.00001
|
NM_000294.3(PHKG2):c.22G>T (p.Glu8Ter)
|
rs375063162
|
0.00001
|
NM_000294.3(PHKG2):c.835C>T (p.Arg279Cys)
|
rs994896967
|
0.00001
|
NM_000295.5(SERPINA1):c.880G>A (p.Asp294Asn)
|
rs772436715
|
0.00001
|
NM_000297.4(PKD2):c.965G>A (p.Arg322Gln)
|
rs145877597
|
0.00001
|
NM_000298.6(PKLR):c.1178A>G (p.Asn393Ser)
|
rs776594413
|
0.00001
|
NM_000303.3(PMM2):c.193G>T (p.Asp65Tyr)
|
rs104894527
|
0.00001
|
NM_000303.3(PMM2):c.97C>T (p.Gln33Ter)
|
rs149530060
|
0.00001
|
NM_000311.5(PRNP):c.290G>A (p.Ser97Asn)
|
rs56362942
|
0.00001
|
NM_000311.5(PRNP):c.414C>G (p.Ile138Met)
|
rs977801755
|
0.00001
|
NM_000314.8(PTEN):c.492+31T>C
|
rs1320105617
|
0.00001
|
NM_000314.8(PTEN):c.613A>G (p.Met205Val)
|
rs776763121
|
0.00001
|
NM_000314.8(PTEN):c.78C>T (p.Thr26=)
|
rs786201280
|
0.00001
|
NM_000314.8(PTEN):c.901G>A (p.Asp301Asn)
|
rs758644748
|
0.00001
|
NM_000320.3(QDPR):c.661C>T (p.Arg221Ter)
|
rs779997983
|
0.00001
|
NM_000321.3(RB1):c.2393G>A (p.Arg798Gln)
|
rs374523971
|
0.00001
|
NM_000321.3(RB1):c.784C>T (p.Arg262Trp)
|
rs556201144
|
0.00001
|
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter)
|
rs61755771
|
0.00001
|
NM_000329.3(RPE65):c.1022T>C (p.Leu341Ser)
|
rs61752909
|
0.00001
|
NM_000329.3(RPE65):c.560G>A (p.Gly187Glu)
|
rs752058510
|
0.00001
|
NM_000330.4(RS1):c.185-3176C>T
|
rs747799506
|
0.00001
|
NM_000335.5(SCN5A):c.1604G>A (p.Arg535Gln)
|
rs199473121
|
0.00001
|
NM_000335.5(SCN5A):c.2236G>A (p.Glu746Lys)
|
rs199473582
|
0.00001
|
NM_000335.5(SCN5A):c.2497G>A (p.Gly833Arg)
|
rs45475899
|
0.00001
|
NM_000335.5(SCN5A):c.2893C>T (p.Arg965Cys)
|
rs199473180
|
0.00001
|
NM_000335.5(SCN5A):c.4882C>T (p.Arg1628Ter)
|
rs199473284
|
0.00001
|
NM_000335.5(SCN5A):c.674G>A (p.Arg225Gln)
|
rs199473071
|
0.00001
|
NM_000338.3(SLC12A1):c.1103A>G (p.Glu368Gly)
|
rs1567314296
|
0.00001
|
NM_000343.4(SLC5A1):c.1007G>A (p.Arg336His)
|
rs774651252
|
0.00001
|
NM_000343.4(SLC5A1):c.799C>T (p.Arg267Ter)
|
rs779502629
|
0.00001
|
NM_000350.3(ABCA4):c.1364T>A (p.Leu455Gln)
|
rs1366296798
|
0.00001
|
NM_000350.3(ABCA4):c.32T>C (p.Leu11Pro)
|
rs62645946
|
0.00001
|
NM_000350.3(ABCA4):c.4926C>G (p.Ser1642Arg)
|
rs61753017
|
0.00001
|
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter)
|
rs61751383
|
0.00001
|
NM_000352.6(ABCC8):c.1337T>C (p.Ile446Thr)
|
rs765529676
|
0.00001
|
NM_000352.6(ABCC8):c.602C>T (p.Pro201Leu)
|
rs933815442
|
0.00001
|
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile)
|
rs77464996
|
0.00001
|
NM_000368.5(TSC1):c.2281T>C (p.Tyr761His)
|
rs776386313
|
0.00001
|
NM_000374.5(UROD):c.425G>A (p.Arg142Gln)
|
rs1182234844
|
0.00001
|
NM_000374.5(UROD):c.616C>T (p.Gln206Ter)
|
rs771824413
|
0.00001
|
NM_000384.3(APOB):c.10679A>G (p.Tyr3560Cys)
|
rs745721296
|
0.00001
|
NM_000388.4(CASR):c.206G>A (p.Arg69His)
|
rs193922432
|
0.00001
|
NM_000388.4(CASR):c.2767C>G (p.Pro923Ala)
|
rs201517907
|
0.00001
|
NM_000388.4(CASR):c.2915C>T (p.Thr972Met)
|
rs200620134
|
0.00001
|
NM_000391.4(TPP1):c.887-10A>G
|
rs755445790
|
0.00001
|
NM_000393.5(COL5A2):c.1579C>T (p.Arg527Cys)
|
rs863223490
|
0.00001
|
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr)
|
rs76645461
|
0.00001
|
NM_000410.4(HFE):c.76+2T>C
|
rs776994377
|
0.00001
|
NM_000416.3(IFNGR1):c.260T>C (p.Ile87Thr)
|
rs104893973
|
0.00001
|
NM_000423.3(KRT2):c.1630C>T (p.Arg544Ter)
|
rs571471637
|
0.00001
|
NM_000426.4(LAMA2):c.5234+1G>A
|
rs781376927
|
0.00001
|
NM_000426.4(LAMA2):c.8244+1G>A
|
rs749522728
|
0.00001
|
NM_000430.4(PAFAH1B1):c.818G>A (p.Arg273Gln)
|
rs794729199
|
0.00001
|
NM_000432.4(MYL2):c.257T>C (p.Phe86Ser)
|
rs730880950
|
0.00001
|
NM_000435.3(NOTCH3):c.1594C>T (p.Arg532Cys)
|
rs1202763005
|
0.00001
|
NM_000435.3(NOTCH3):c.6242G>T (p.Gly2081Val)
|
rs141231747
|
0.00001
|
NM_000440.3(PDE6A):c.1749C>G (p.Tyr583Ter)
|
rs121918576
|
0.00001
|
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter)
|
rs753942596
|
0.00001
|
NM_000441.2(SLC26A4):c.1124A>G (p.Tyr375Cys)
|
rs148425972
|
0.00001
|
NM_000443.4(ABCB4):c.1714C>T (p.Gln572Ter)
|
rs1458423947
|
0.00001
|
NM_000443.4(ABCB4):c.1744C>T (p.Arg582Trp)
|
rs1444056772
|
0.00001
|
NM_000443.4(ABCB4):c.1745G>A (p.Arg582Gln)
|
rs760153272
|
0.00001
|
NM_000443.4(ABCB4):c.431G>A (p.Arg144Gln)
|
rs863225299
|
0.00001
|
NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter)
|
rs377160065
|
0.00001
|
NM_000448.3(RAG1):c.424C>T (p.Arg142Ter)
|
rs773929270
|
0.00001
|
NM_000451.4(SHOX):c.106C>T (p.Arg36Trp)
|
rs757408441
|
0.00001
|
NM_000451.4(SHOX):c.199C>T (p.Pro67Ser)
|
rs200663078
|
0.00001
|
NM_000451.4(SHOX):c.200C>G (p.Pro67Arg)
|
rs765679079
|
0.00001
|
NM_000451.4(SHOX):c.278G>C (p.Gly93Ala)
|
rs746224384
|
0.00001
|
NM_000451.4(SHOX):c.335A>C (p.Gln112Pro)
|
rs757391565
|
0.00001
|
NM_000451.4(SHOX):c.346A>G (p.Lys116Glu)
|
rs1451917593
|
0.00001
|
NM_000451.4(SHOX):c.414G>C (p.Glu138Asp)
|
rs750602920
|
0.00001
|
NM_000451.4(SHOX):c.583C>T (p.Arg195Ter)
|
rs137852552
|
0.00001
|
NM_000451.4(SHOX):c.584G>A (p.Arg195Gln)
|
rs188370909
|
0.00001
|
NM_000451.4(SHOX):c.606G>A (p.Met202Ile)
|
rs1461126707
|
0.00001
|
NM_000451.4(SHOX):c.634-3C>T
|
rs1274848134
|
0.00001
|
NM_000451.4(SHOX):c.70G>A (p.Gly24Arg)
|
rs761008675
|
0.00001
|
NM_000451.4(SHOX):c.839G>C (p.Arg280Pro)
|
rs1476996812
|
0.00001
|
NM_000455.5(STK11):c.-4C>T
|
rs1181075160
|
0.00001
|
NM_000455.5(STK11):c.1148G>A (p.Arg383His)
|
rs730881990
|
0.00001
|
NM_000455.5(STK11):c.1163A>G (p.Lys388Arg)
|
rs756877141
|
0.00001
|
NM_000455.5(STK11):c.375-33C>T
|
rs1246317136
|
0.00001
|
NM_000455.5(STK11):c.465-3C>T
|
rs587781619
|
0.00001
|
NM_000455.5(STK11):c.559G>A (p.Gly187Ser)
|
rs587782032
|
0.00001
|
NM_000455.5(STK11):c.877G>A (p.Glu293Lys)
|
rs398123405
|
0.00001
|
NM_000455.5(STK11):c.921-9C>T
|
rs761688641
|
0.00001
|
NM_000463.3(UGT1A1):c.923G>A (p.Gly308Glu)
|
rs62625011
|
0.00001
|
NM_000465.4(BARD1):c.1109G>A (p.Arg370His)
|
rs730881416
|
0.00001
|
NM_000465.4(BARD1):c.1543T>C (p.Ser515Pro)
|
rs876659146
|
0.00001
|
NM_000465.4(BARD1):c.1594G>A (p.Asp532Asn)
|
rs757281184
|
0.00001
|
NM_000465.4(BARD1):c.1802A>G (p.Asp601Gly)
|
rs767765131
|
0.00001
|
NM_000465.4(BARD1):c.1818T>C (p.His606=)
|
rs199590147
|
0.00001
|
NM_000465.4(BARD1):c.2054A>G (p.His685Arg)
|
rs368488821
|
0.00001
|
NM_000465.4(BARD1):c.2057A>G (p.His686Arg)
|
rs864622380
|
0.00001
|
NM_000465.4(BARD1):c.2155A>G (p.Thr719Ala)
|
rs771852699
|
0.00001
|
NM_000465.4(BARD1):c.490C>G (p.Gln164Glu)
|
rs750350372
|
0.00001
|
NM_000465.4(BARD1):c.976A>G (p.Asn326Asp)
|
rs587780038
|
0.00001
|
NM_000465.4(BARD1):c.986C>G (p.Ser329Cys)
|
rs905626929
|
0.00001
|
NM_000483.5(APOC2):c.274C>T (p.Gln92Ter)
|
rs199563828
|
0.00001
|
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys)
|
rs74315479
|
0.00001
|
NM_000492.4(CFTR):c.1039C>T (p.Arg347Cys)
|
rs397508147
|
0.00001
|
NM_000492.4(CFTR):c.1499G>A (p.Gly500Asp)
|
rs774945680
|
0.00001
|
NM_000492.4(CFTR):c.1614T>A (p.Asn538Lys)
|
rs1196851290
|
0.00001
|
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)
|
rs121909005
|
0.00001
|
NM_000492.4(CFTR):c.1680-1G>A
|
rs121908794
|
0.00001
|
NM_000492.4(CFTR):c.1753G>T (p.Glu585Ter)
|
rs397508296
|
0.00001
|
NM_000492.4(CFTR):c.1766+3A>G
|
rs397508298
|
0.00001
|
NM_000492.4(CFTR):c.2125C>T (p.Arg709Ter)
|
rs121908760
|
0.00001
|
NM_000492.4(CFTR):c.2252G>A (p.Arg751His)
|
rs397508357
|
0.00001
|
NM_000492.4(CFTR):c.2290C>T (p.Arg764Ter)
|
rs121908810
|
0.00001
|
NM_000492.4(CFTR):c.2554dup (p.Tyr852fs)
|
rs1057517068
|
0.00001
|
NM_000492.4(CFTR):c.2846A>T (p.His949Leu)
|
rs397508444
|
0.00001
|
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter)
|
rs397508461
|
0.00001
|
NM_000492.4(CFTR):c.2930C>T (p.Ser977Phe)
|
rs141033578
|
0.00001
|
NM_000492.4(CFTR):c.3197G>A (p.Arg1066His)
|
rs121909019
|
0.00001
|
NM_000492.4(CFTR):c.3230T>C (p.Leu1077Pro)
|
rs139304906
|
0.00001
|
NM_000492.4(CFTR):c.325T>C (p.Tyr109His)
|
rs397508522
|
0.00001
|
NM_000492.4(CFTR):c.3607A>G (p.Ile1203Val)
|
rs75647395
|
0.00001
|
NM_000492.4(CFTR):c.3659del (p.Thr1220fs)
|
rs121908811
|
0.00001
|
NM_000492.4(CFTR):c.3717G>A (p.Arg1239=)
|
rs144781064
|
0.00001
|
NM_000492.4(CFTR):c.3731G>A (p.Gly1244Glu)
|
rs267606723
|
0.00001
|
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile)
|
rs397508600
|
0.00001
|
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu)
|
rs121909040
|
0.00001
|
NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn)
|
rs74503330
|
0.00001
|
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu)
|
rs397508607
|
0.00001
|
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro)
|
rs397508674
|
0.00001
|
NM_000492.4(CFTR):c.4225G>A (p.Glu1409Lys)
|
rs397508699
|
0.00001
|
NM_000492.4(CFTR):c.4242+1G>T
|
rs372227120
|
0.00001
|
NM_000492.4(CFTR):c.579+5G>A
|
rs78440224
|
0.00001
|
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser)
|
rs121908803
|
0.00001
|
NM_000492.4(CFTR):c.695T>A (p.Val232Asp)
|
rs397508783
|
0.00001
|
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter)
|
rs193922532
|
0.00001
|
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu)
|
rs75763344
|
0.00001
|
NM_000492.4(CFTR):c.960A>T (p.Leu320Phe)
|
rs56093012
|
0.00001
|
NM_000492.4(CFTR):c.992T>A (p.Ile331Asn)
|
rs397508825
|
0.00001
|
NM_000497.4(CYP11B1):c.799G>A (p.Gly267Ser)
|
rs1421641874
|
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_000520.6(HEXA):c.1510C>T (p.Arg504Cys)
|
rs28942071
|
0.00001
|
NM_000525.4(KCNJ11):c.776A>G (p.His259Arg)
|
rs104894248
|
0.00001
|
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val)
|
rs755667663
|
0.00001
|
NM_000527.5(LDLR):c.1608G>C (p.Trp536Cys)
|
rs2077458389
|
0.00001
|
NM_000527.5(LDLR):c.313+2T>C
|
rs793888517
|
0.00001
|
NM_000531.6(OTC):c.493G>C (p.Asp165His)
|
rs72556275
|
0.00001
|
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys)
|
rs121964960
|
0.00001
|
NM_000535.7(PMS2):c.1047G>A (p.Lys349=)
|
rs1422380612
|
0.00001
|
NM_000535.7(PMS2):c.1352G>A (p.Arg451Lys)
|
rs876660834
|
0.00001
|
NM_000535.7(PMS2):c.2062A>G (p.Ile688Val)
|
rs1060503144
|
0.00001
|
NM_000535.7(PMS2):c.2405G>A (p.Arg802Gln)
|
rs1060503143
|
0.00001
|
NM_000535.7(PMS2):c.451C>T (p.Arg151Cys)
|
rs758561884
|
0.00001
|
NM_000535.7(PMS2):c.713G>A (p.Ser238Asn)
|
rs1060503111
|
0.00001
|
NM_000535.7(PMS2):c.750C>T (p.Ser250=)
|
rs200439295
|
0.00001
|
NM_000535.7(PMS2):c.825A>T (p.Gln275His)
|
rs876659736
|
0.00001
|
NM_000535.7(PMS2):c.881G>A (p.Arg294Gln)
|
rs373239341
|
0.00001
|
NM_000535.7(PMS2):c.89A>G (p.Gln30Arg)
|
rs56203955
|
0.00001
|
NM_000535.7(PMS2):c.983A>G (p.Asp328Gly)
|
rs587782852
|
0.00001
|
NM_000539.3(RHO):c.551A>G (p.Gln184Arg)
|
rs1402468701
|
0.00001
|
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)
|
rs118192168
|
0.00001
|
NM_000540.3(RYR1):c.2602C>T (p.Arg868Cys)
|
rs138020885
|
0.00001
|
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg)
|
rs1554935669
|
0.00001
|
NM_000545.8(HNF1A):c.1513C>A (p.His505Asn)
|
rs577078110
|
0.00001
|
NM_000546.6(TP53):c.1010G>A (p.Arg337His)
|
rs121912664
|
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_000546.6(TP53):c.354A>T (p.Thr118=)
|
rs751978853
|
0.00001
|
NM_000546.6(TP53):c.542G>A (p.Arg181His)
|
rs397514495
|
0.00001
|
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys)
|
rs121912666
|
0.00001
|
NM_000546.6(TP53):c.725G>A (p.Cys242Tyr)
|
rs121912655
|
0.00001
|
NM_000546.6(TP53):c.733G>A (p.Gly245Ser)
|
rs28934575
|
0.00001
|
NM_000546.6(TP53):c.783-34C>T
|
rs376988747
|
0.00001
|
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)
|
rs28934574
|
0.00001
|
NM_000546.6(TP53):c.885T>C (p.Pro295=)
|
rs200073907
|
0.00001
|
NM_000548.5(TSC2):c.1689C>T (p.Ala563=)
|
rs779858018
|
0.00001
|
NM_000551.4(VHL):c.235C>T (p.Arg79Cys)
|
rs200885420
|
0.00001
|
NM_000551.4(VHL):c.538A>G (p.Ile180Val)
|
rs377715747
|
0.00001
|
NM_000553.6(WRN):c.1351-1G>A
|
rs1170732591
|
0.00001
|
NM_000553.6(WRN):c.58A>G (p.Asn20Asp)
|
rs1233624462
|
0.00001
|
NM_000685.5(AGTR1):c.419G>A (p.Arg140His)
|
rs570056677
|
0.00001
|
NM_000702.4(ATP1A2):c.1148G>A (p.Arg383His)
|
rs765909830
|
0.00001
|
NM_000751.3(CHRND):c.1007G>A (p.Arg336Gln)
|
rs375623674
|
0.00001
|
NM_000781.3(CYP11A1):c.694C>T (p.Arg232Ter)
|
rs755186597
|
0.00001
|
NM_000784.4(CYP27A1):c.1181T>C (p.Leu394Pro)
|
rs1406298698
|
0.00001
|
NM_000785.4(CYP27B1):c.1357C>T (p.Arg453Cys)
|
rs767480544
|
0.00001
|
NM_000967.4(RPL3):c.353T>A (p.Phe118Tyr)
|
rs771273075
|
0.00001
|
NM_001003800.2(BICD2):c.1864C>T (p.Arg622Trp)
|
rs1445290655
|
0.00001
|
NM_001005242.3(PKP2):c.1772G>A (p.Arg591Gln)
|
rs755076586
|
0.00001
|
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp)
|
rs121909090
|
0.00001
|
NM_001005498.4(RHBDF2):c.1116-7T>C
|
rs920432024
|
0.00001
|
NM_001008216.2(GALE):c.284G>A (p.Gly95Asp)
|
rs1243531358
|
0.00001
|
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs)
|
rs1555455457
|
0.00001
|
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys)
|
rs1057518897
|
0.00001
|
NM_001015880.2(PAPSS2):c.386G>A (p.Arg129His)
|
rs760085327
|
0.00001
|
NM_001018115.3(FANCD2):c.3706C>T (p.Arg1236Cys)
|
rs771078251
|
0.00001
|
NM_001018115.3(FANCD2):c.3777+1G>T
|
rs1434069831
|
0.00001
|
NM_001023570.4(IQCB1):c.1465C>T (p.Arg489Ter)
|
rs373909351
|
0.00001
|
NM_001032386.2(SUOX):c.1126C>T (p.Arg376Cys)
|
rs781081194
|
0.00001
|
NM_001032386.2(SUOX):c.1534G>T (p.Asp512Tyr)
|
rs770792767
|
0.00001
|
NM_001039.4(SCNN1G):c.576T>A (p.Asn192Lys)
|
rs1001641230
|
0.00001
|
NM_001040142.2(SCN2A):c.3461G>A (p.Gly1154Glu)
|
rs995379212
|
0.00001
|
NM_001040142.2(SCN2A):c.982T>G (p.Phe328Val)
|
rs781204054
|
0.00001
|
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys)
|
rs137854557
|
0.00001
|
NM_001042492.3(NF1):c.1891G>A (p.Gly631Arg)
|
rs757424379
|
0.00001
|
NM_001042492.3(NF1):c.2248A>G (p.Thr750Ala)
|
rs748064845
|
0.00001
|
NM_001042492.3(NF1):c.2659G>A (p.Ala887Thr)
|
rs1251621684
|
0.00001
|
NM_001042492.3(NF1):c.3989A>C (p.Glu1330Ala)
|
rs1256727206
|
0.00001
|
NM_001042492.3(NF1):c.4655A>G (p.Lys1552Arg)
|
rs1172780277
|
0.00001
|
NM_001042492.3(NF1):c.4682G>A (p.Ser1561Asn)
|
rs751414513
|
0.00001
|
NM_001042492.3(NF1):c.4813A>G (p.Ile1605Val)
|
rs199474766
|
0.00001
|
NM_001042492.3(NF1):c.5160G>T (p.Glu1720Asp)
|
rs773378630
|
0.00001
|
NM_001042492.3(NF1):c.6642+42T>C
|
rs760581466
|
0.00001
|
NM_001042492.3(NF1):c.6773G>A (p.Arg2258Gln)
|
rs786202030
|
0.00001
|
NM_001042492.3(NF1):c.7091G>A (p.Arg2364Gln)
|
rs1555535407
|
0.00001
|
NM_001042492.3(NF1):c.7213A>G (p.Ile2405Val)
|
rs565708398
|
0.00001
|
NM_001042492.3(NF1):c.7513G>A (p.Ala2505Thr)
|
rs786202955
|
0.00001
|
NM_001042492.3(NF1):c.8324A>G (p.Asn2775Ser)
|
rs772090874
|
0.00001
|
NM_001042517.2(DIAPH3):c.3265C>T (p.Arg1089Trp)
|
rs1156923369
|
0.00001
|
NM_001048174.2(MUTYH):c.1057G>T (p.Gly353Trp)
|
rs587778539
|
0.00001
|
NM_001048174.2(MUTYH):c.1087C>T (p.Gln363Ter)
|
rs587783057
|
0.00001
|
NM_001048174.2(MUTYH):c.1102+42_1102+43del
|
rs775033999
|
0.00001
|
NM_001048174.2(MUTYH):c.1227G>A (p.Arg409=)
|
rs199575659
|
0.00001
|
NM_001048174.2(MUTYH):c.1533T>C (p.Thr511=)
|
rs756708148
|
0.00001
|
NM_001048174.2(MUTYH):c.167A>G (p.Tyr56Cys)
|
rs200747973
|
0.00001
|
NM_001048174.2(MUTYH):c.259A>G (p.Arg87Gly)
|
rs950856923
|
0.00001
|
NM_001048174.2(MUTYH):c.264+10C>T
|
rs369242529
|
0.00001
|
NM_001048174.2(MUTYH):c.493-5A>G
|
rs758377868
|
0.00001
|
NM_001048174.2(MUTYH):c.565C>T (p.Arg189Cys)
|
rs537292657
|
0.00001
|
NM_001048174.2(MUTYH):c.887C>T (p.Ser296Leu)
|
rs558173961
|
0.00001
|
NM_001048174.2(MUTYH):c.903G>C (p.Val301=)
|
rs749048388
|
0.00001
|
NM_001048174.2(MUTYH):c.914-50C>T
|
rs1644954335
|
0.00001
|
NM_001048174.2(MUTYH):c.986A>G (p.Asn329Ser)
|
rs754178539
|
0.00001
|
NM_001061.7(TBXAS1):c.1235G>A (p.Arg412Gln)
|
rs199422117
|
0.00001
|
NM_001065.4(TNFRSF1A):c.370G>A (p.Val124Met)
|
rs104895278
|
0.00001
|
NM_001065.4(TNFRSF1A):c.677C>G (p.Ser226Cys)
|
rs775002776
|
0.00001
|
NM_001077365.2(POMT1):c.986+1G>A
|
rs961071228
|
0.00001
|
NM_001077415.3(CRELD1):c.857C>G (p.Pro286Arg)
|
rs1408230289
|
0.00001
|
NM_001077418.3(TMEM231):c.244G>T (p.Ala82Ser)
|
rs541195377
|
0.00001
|
NM_001079866.2(BCS1L):c.142A>G (p.Met48Val)
|
rs755305281
|
0.00001
|
NM_001080467.3(MYO5B):c.2003+2T>A
|
rs727505394
|
0.00001
|
NM_001080467.3(MYO5B):c.617T>C (p.Ile206Thr)
|
rs1166138315
|
0.00001
|
NM_001080467.3(MYO5B):c.656G>A (p.Arg219His)
|
rs1053713532
|
0.00001
|
NM_001082971.2(DDC):c.361T>C (p.Trp121Arg)
|
rs371117662
|
0.00001
|
NM_001082971.2(DDC):c.923A>T (p.Asn308Ile)
|
rs375716771
|
0.00001
|
NM_001083116.3(PRF1):c.1097A>G (p.Gln366Arg)
|
rs957245579
|
0.00001
|
NM_001083116.3(PRF1):c.659G>A (p.Gly220Asp)
|
rs202217604
|
0.00001
|
NM_001084.5(PLOD3):c.2061+1G>A
|
rs1798091848
|
0.00001
|
NM_001089.3(ABCA3):c.3863-98C>T
|
rs189077405
|
0.00001
|
NM_001098.3(ACO2):c.1390G>T (p.Glu464Ter)
|
rs1601927180
|
0.00001
|
NM_001110556.2(FLNA):c.5515C>G (p.Leu1839Val)
|
rs1479378222
|
0.00001
|
NM_001122659.3(EDNRB):c.928G>A (p.Ala310Thr)
|
rs944500117
|
0.00001
|
NM_001122769.3(LCA5):c.955G>A (p.Ala319Thr)
|
rs1178243254
|
0.00001
|
NM_001122955.4(BSCL2):c.517dup (p.Thr173fs)
|
rs786205071
|
0.00001
|
NM_001122955.4(BSCL2):c.604C>T (p.Arg202Ter)
|
rs137852970
|
0.00001
|
NM_001122955.4(BSCL2):c.985C>T (p.Arg329Ter)
|
rs587777606
|
0.00001
|
NM_001126049.2(KLLN):c.316C>A (p.Pro106Thr)
|
rs1244675683
|
0.00001
|
NM_001127511.3(APC):c.30C>A (p.Val10=)
|
rs917976853
|
0.00001
|
NM_001127898.4(CLCN5):c.2168G>C (p.Gly723Ala)
|
rs782297848
|
0.00001
|
NM_001130438.3(SPTAN1):c.1502G>A (p.Ser501Asn)
|
rs1347944186
|
0.00001
|
NM_001130438.3(SPTAN1):c.5433C>G (p.His1811Gln)
|
rs772382171
|
0.00001
|
NM_001130438.3(SPTAN1):c.6764G>A (p.Arg2255His)
|
rs201693154
|
0.00001
|
NM_001134407.3(GRIN2A):c.869C>T (p.Ala290Val)
|
rs199528312
|
0.00001
|
NM_001135146.2(SLC39A8):c.965T>C (p.Ile322Thr)
|
rs755786784
|
0.00001
|
NM_001142800.2(EYS):c.4651G>T (p.Glu1551Ter)
|
rs1305702728
|
0.00001
|
NM_001142800.2(EYS):c.5857G>T (p.Glu1953Ter)
|
rs137853189
|
0.00001
|
NM_001142800.2(EYS):c.8545C>T (p.Arg2849Ter)
|
rs1326635278
|
0.00001
|
NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg)
|
rs373203896
|
0.00001
|
NM_001142800.2(EYS):c.9059T>C (p.Ile3020Thr)
|
rs948998853
|
0.00001
|
NM_001143854.2(RPH3A):c.763G>C (p.Gly255Arg)
|
rs779991033
|
0.00001
|
NM_001160224.2(RNF170):c.490G>A (p.Gly164Arg)
|
rs797045006
|
0.00001
|
NM_001160372.4(TRAPPC9):c.3279+1G>A
|
rs1489634479
|
0.00001
|
NM_001162498.3(LPAR6):c.819C>A (p.Tyr273Ter)
|
rs749894411
|
0.00001
|
NM_001163809.2(WDR81):c.1316A>G (p.His439Arg)
|
rs770369142
|
0.00001
|
NM_001164277.2(SLC37A4):c.59G>A (p.Gly20Asp)
|
rs193302881
|
0.00001
|
NM_001164508.2(NEB):c.24304_24305dup (p.Leu8102fs)
|
rs1559207733
|
0.00001
|
NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His)
|
rs398123588
|
0.00001
|
NM_001165963.4(SCN1A):c.2686G>A (p.Val896Ile)
|
rs745378416
|
0.00001
|
NM_001165963.4(SCN1A):c.4855A>G (p.Met1619Val)
|
rs373967247
|
0.00001
|
NM_001171155.2(PET100):c.1A>G (p.Met1Val)
|
rs977392512
|
0.00001
|
NM_001173523.2(PCDH7):c.1458C>A (p.Phe486Leu)
|
rs748738921
|
0.00001
|
NM_001173523.2(PCDH7):c.408C>G (p.Ile136Met)
|
rs925469298
|
0.00001
|
NM_001177316.2(SLC34A3):c.940G>A (p.Ala314Thr)
|
rs1332288437
|
0.00001
|
NM_001182.5(ALDH7A1):c.1111C>T (p.Pro371Ser)
|
rs1045606047
|
0.00001
|
NM_001184.4(ATR):c.6259A>G (p.Met2087Val)
|
rs757353909
|
0.00001
|
NM_001190274.2(FBXO11):c.2699C>G (p.Thr900Arg)
|
rs780870758
|
0.00001
|
NM_001205293.3(CACNA1E):c.1883+9C>G
|
rs1488129029
|
0.00001
|
NM_001211.6(BUB1B):c.585A>G (p.Gln195=)
|
rs1595518738
|
0.00001
|
NM_001231.5(CASQ1):c.925G>A (p.Asp309Asn)
|
rs1046507393
|
0.00001
|
NM_001242957.3(MAK):c.814C>T (p.Arg272Ter)
|
rs753314164
|
0.00001
|
NM_001244008.2(KIF1A):c.3278A>G (p.Asp1093Gly)
|
rs748846590
|
0.00001
|
NM_001244710.2(GFPT1):c.41G>A (p.Arg14Gln)
|
rs922548333
|
0.00001
|
NM_001256071.3(RNF213):c.12037G>A (p.Asp4013Asn)
|
rs397514563
|
0.00001
|
NM_001256071.3(RNF213):c.12391C>T (p.Arg4131Cys)
|
rs556513891
|
0.00001
|
NM_001271.4(CHD2):c.2308C>A (p.Pro770Thr)
|
rs1064794433
|
0.00001
|
NM_001271.4(CHD2):c.826G>A (p.Ala276Thr)
|
rs375521197
|
0.00001
|
NM_001276345.2(TNNT2):c.775G>A (p.Asp259Asn)
|
rs141805127
|
0.00001
|
NM_001277313.2(FMN1):c.1969G>T (p.Gly657Ter)
|
rs1374695621
|
0.00001
|
NM_001278716.2(FBXL4):c.419T>C (p.Val140Ala)
|
rs1057519447
|
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_001298.3(CNGA3):c.1717T>C (p.Tyr573His)
|
rs1330420689
|
0.00001
|
NM_001317778.2(SFTPC):c.334G>A (p.Ala112Thr)
|
rs372529179
|
0.00001
|
NM_001321075.3(DLG4):c.1271G>A (p.Arg424Gln)
|
rs780858708
|
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_001330195.2(NRXN3):c.3142+3A>G
|
rs531047390
|
0.00001
|
NM_001346810.2(DLGAP2):c.511G>A (p.Asp171Asn)
|
rs770007555
|
0.00001
|
NM_001348323.3(TRIP12):c.983A>C (p.Glu328Ala)
|
rs986636922
|
0.00001
|
NM_001348768.2(HECW2):c.452G>A (p.Arg151Gln)
|
rs752395684
|
0.00001
|
NM_001350162.2(TEX15):c.4292G>A (p.Gly1431Asp)
|
rs1807590999
|
0.00001
|
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala)
|
rs752737867
|
0.00001
|
NM_001360.3(DHCR7):c.889A>C (p.Ile297Leu)
|
rs1085307926
|
0.00001
|
NM_001360016.2(G6PD):c.1366G>A (p.Asp456Asn)
|
rs782317415
|
0.00001
|
NM_001360016.2(G6PD):c.242G>A (p.Arg81His)
|
rs782308266
|
0.00001
|
NM_001360016.2(G6PD):c.323T>A (p.Val108Glu)
|
rs1557230626
|
0.00001
|
NM_001360016.2(G6PD):c.383T>C (p.Leu128Pro)
|
rs78365220
|
0.00001
|
NM_001365536.1(SCN9A):c.2723G>A (p.Trp908Ter)
|
rs794729216
|
0.00001
|
NM_001365951.3(KIF1B):c.5406A>G (p.Ile1802Met)
|
rs150737970
|
0.00001
|
NM_001367561.1(DOCK7):c.6112T>G (p.Leu2038Val)
|
rs749566422
|
0.00001
|
NM_001369268.1(ACAN):c.5221G>C (p.Gly1741Arg)
|
rs748666817
|
0.00001
|
NM_001370259.2(MEN1):c.188T>A (p.Phe63Tyr)
|
rs1366457977
|
0.00001
|
NM_001370259.2(MEN1):c.635A>G (p.Asn212Ser)
|
rs1438685841
|
0.00001
|
NM_001370658.1(BTD):c.250-15del
|
rs587783008
|
0.00001
|
NM_001370658.1(BTD):c.281G>T (p.Gly94Val)
|
rs375712490
|
0.00001
|
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser)
|
rs119103232
|
0.00001
|
NM_001371395.1(USP53):c.1687del (p.Ser563fs)
|
rs1263067327
|
0.00001
|
NM_001371596.2(MFSD8):c.104G>A (p.Arg35Gln)
|
rs146596875
|
0.00001
|
NM_001371904.1(APOA5):c.1039C>A (p.Leu347Met)
|
rs1940969645
|
0.00001
|
NM_001371986.1(UNC80):c.3358-1G>C
|
rs1186997983
|
0.00001
|
NM_001374828.1(ARID1B):c.1319G>C (p.Gly440Ala)
|
rs1332073619
|
0.00001
|
NM_001375654.1(RP1):c.2212-1G>A
|
rs997666144
|
0.00001
|
NM_001378418.1(TCF20):c.3121G>C (p.Glu1041Gln)
|
rs1450225029
|
0.00001
|
NM_001378454.1(ALMS1):c.1051C>T (p.Arg351Ter)
|
rs1275113273
|
0.00001
|
NM_001378454.1(ALMS1):c.10933C>T (p.Gln3645Ter)
|
rs1674967197
|
0.00001
|
NM_001378615.1(CC2D2A):c.1267C>T (p.Arg423Ter)
|
rs757208121
|
0.00001
|
NM_001378964.1(CDON):c.2818A>C (p.Ser940Arg)
|
rs369673018
|
0.00001
|
NM_001378974.1(FBXW11):c.211A>G (p.Ile71Val)
|
rs1433616249
|
0.00001
|
NM_001379500.1(COL18A1):c.1187_1200dup (p.Pro401fs)
|
rs768663340
|
0.00001
|
NM_001379500.1(COL18A1):c.2666_2667insT (p.Gly892fs)
|
rs1568930288
|
0.00001
|
NM_001379610.1(SPINK1):c.1A>T (p.Met1Leu)
|
rs369163833
|
0.00001
|
NM_001382430.1(AKT1):c.1172+4A>C
|
rs1319947920
|
0.00001
|
NM_001382430.1(AKT1):c.1361A>G (p.Gln454Arg)
|
rs759702315
|
0.00001
|
NM_001384732.1(CPLANE1):c.3104G>C (p.Gly1035Ala)
|
rs1019442092
|
0.00001
|
NM_001384732.1(CPLANE1):c.7588+7A>G
|
rs773662834
|
0.00001
|
NM_001384732.1(CPLANE1):c.9017+1G>A
|
rs863225154
|
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_001556.3(IKBKB):c.1466G>T (p.Ser489Ile)
|
rs1184918253
|
0.00001
|
NM_001605.3(AARS1):c.312G>A (p.Trp104Ter)
|
rs1398433261
|
0.00001
|
NM_001673.5(ASNS):c.1213G>A (p.Ala405Thr)
|
rs749406391
|
0.00001
|
NM_001692.4(ATP6V1B1):c.1386C>G (p.Tyr462Ter)
|
rs1572924733
|
0.00001
|
NM_001692.4(ATP6V1B1):c.340C>T (p.Arg114Ter)
|
rs782138777
|
0.00001
|
NM_001753.5(CAV1):c.112G>T (p.Glu38Ter)
|
rs121434501
|
0.00001
|
NM_001844.5(COL2A1):c.4343C>G (p.Thr1448Ser)
|
rs1481212897
|
0.00001
|
NM_001851.6(COL9A1):c.2629C>T (p.Arg877Ter)
|
rs758388716
|
0.00001
|
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met)
|
rs1392934477
|
0.00001
|
NM_001918.5(DBT):c.206T>C (p.Leu69Pro)
|
rs1663813561
|
0.00001
|
NM_001961.4(EEF2):c.278A>G (p.Lys93Arg)
|
rs922729998
|
0.00001
|
NM_002074.5(GNB1):c.239T>A (p.Ile80Asn)
|
rs752746786
|
0.00001
|
NM_002180.3(IGHMBP2):c.1183T>C (p.Cys395Arg)
|
rs1347461335
|
0.00001
|
NM_002180.3(IGHMBP2):c.1327C>T (p.Arg443Cys)
|
rs751549678
|
0.00001
|
NM_002225.5(IVD):c.1206del (p.Ile402fs)
|
rs1595797766
|
0.00001
|
NM_002225.5(IVD):c.1231C>T (p.Arg411Trp)
|
rs1237032588
|
0.00001
|
NM_002252.5(KCNS3):c.61G>A (p.Val21Met)
|
rs1346890703
|
0.00001
|
NM_002351.5(SH2D1A):c.7G>T (p.Ala3Ser)
|
rs148554414
|
0.00001
|
NM_002354.3(EPCAM):c.76+21G>C
|
rs762123721
|
0.00001
|
NM_002381.5(MATN3):c.659T>C (p.Val220Ala)
|
rs187943382
|
0.00001
|
NM_002439.5(MSH3):c.2212A>T (p.Lys738Ter)
|
rs1580035037
|
0.00001
|
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu)
|
rs137853062
|
0.00001
|
NM_002454.3(MTRR):c.1727T>G (p.Leu576Trp)
|
rs771123203
|
0.00001
|
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter)
|
rs754990692
|
0.00001
|
NM_002472.3(MYH8):c.3619G>A (p.Gly1207Arg)
|
rs571189404
|
0.00001
|
NM_002485.5(NBN):c.119C>T (p.Ser40Leu)
|
rs587781530
|
0.00001
|
NM_002485.5(NBN):c.1471G>A (p.Glu491Lys)
|
rs776900339
|
0.00001
|
NM_002485.5(NBN):c.171+4T>C
|
rs587782290
|
0.00001
|
NM_002485.5(NBN):c.1902T>G (p.Ala634=)
|
rs876660052
|
0.00001
|
NM_002485.5(NBN):c.1912T>C (p.Ser638Pro)
|
rs199657566
|
0.00001
|
NM_002485.5(NBN):c.2129C>T (p.Ala710Val)
|
rs1060503454
|
0.00001
|
NM_002485.5(NBN):c.2149A>T (p.Thr717Ser)
|
rs587780093
|
0.00001
|
NM_002485.5(NBN):c.596C>G (p.Pro199Arg)
|
rs730881844
|
0.00001
|
NM_002529.4(NTRK1):c.1381G>A (p.Gly461Arg)
|
rs761247634
|
0.00001
|
NM_002529.4(NTRK1):c.422A>C (p.Gln141Pro)
|
rs1306924167
|
0.00001
|
NM_002529.4(NTRK1):c.842A>G (p.Asn281Ser)
|
rs547972574
|
0.00001
|
NM_002546.4(TNFRSF11B):c.997C>T (p.Arg333Ter)
|
rs1307942060
|
0.00001
|
NM_002582.4(PARN):c.948_949del (p.Val318fs)
|
rs1461036243
|
0.00001
|
NM_002608.4(PDGFB):c.562C>T (p.Pro188Ser)
|
rs914575595
|
0.00001
|
NM_002666.5(PLIN1):c.1136G>A (p.Arg379Lys)
|
rs140394922
|
0.00001
|
NM_002691.4(POLD1):c.1289A>G (p.Asn430Ser)
|
rs546554950
|
0.00001
|
NM_002691.4(POLD1):c.1635C>T (p.Tyr545=)
|
rs1057522415
|
0.00001
|
NM_002691.4(POLD1):c.197C>G (p.Ala66Gly)
|
rs199792522
|
0.00001
|
NM_002691.4(POLD1):c.224T>C (p.Ile75Thr)
|
rs878854534
|
0.00001
|
NM_002691.4(POLD1):c.2717+8G>A
|
rs752674105
|
0.00001
|
NM_002691.4(POLD1):c.3120+6A>G
|
rs1231856737
|
0.00001
|
NM_002691.4(POLD1):c.317-5C>T
|
rs768082423
|
0.00001
|
NM_002691.4(POLD1):c.327G>C (p.Gln109His)
|
rs750260438
|
0.00001
|
NM_002691.4(POLD1):c.565G>T (p.Ala189Ser)
|
rs761846026
|
0.00001
|
NM_002691.4(POLD1):c.613G>A (p.Gly205Ser)
|
rs914238978
|
0.00001
|
NM_002691.4(POLD1):c.674G>A (p.Arg225His)
|
rs144979965
|
0.00001
|
NM_002693.3(POLG):c.3242G>A (p.Arg1081Gln)
|
rs140079523
|
0.00001
|
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser)
|
rs749922511
|
0.00001
|
NM_002872.5(RAC2):c.364G>A (p.Asp122Asn)
|
rs910521882
|
0.00001
|
NM_002872.5(RAC2):c.562G>A (p.Ala188Thr)
|
rs758461304
|
0.00001
|
NM_002878.4(RAD51D):c.263+1585C>G
|
rs1192914615
|
0.00001
|
NM_002878.4(RAD51D):c.70A>G (p.Arg24Gly)
|
rs781611267
|
0.00001
|
NM_002878.4(RAD51D):c.716G>A (p.Arg239Gln)
|
rs780921112
|
0.00001
|
NM_002878.4(RAD51D):c.80C>A (p.Thr27Lys)
|
rs139642328
|
0.00001
|
NM_002878.4(RAD51D):c.823C>T (p.Arg275Trp)
|
rs752780416
|
0.00001
|
NM_002878.4(RAD51D):c.862G>C (p.Gly288Arg)
|
rs1391505912
|
0.00001
|
NM_002878.4(RAD51D):c.900A>G (p.Arg300=)
|
rs370634278
|
0.00001
|
NM_002907.4(RECQL):c.1216+3A>G
|
rs372364772
|
0.00001
|
NM_002907.4(RECQL):c.1382A>G (p.His461Arg)
|
rs201573409
|
0.00001
|
NM_002907.4(RECQL):c.431T>C (p.Met144Thr)
|
rs751285035
|
0.00001
|
NM_002907.4(RECQL):c.501+3A>G
|
rs929469507
|
0.00001
|
NM_002907.4(RECQL):c.502-2A>G
|
rs1220859536
|
0.00001
|
NM_002907.4(RECQL):c.889A>G (p.Thr297Ala)
|
rs146080041
|
0.00001
|
NM_002968.3(SALL1):c.220G>A (p.Val74Ile)
|
rs529479120
|
0.00001
|
NM_003000.3(SDHB):c.638T>C (p.Met213Thr)
|
rs202014362
|
0.00001
|
NM_003000.3(SDHB):c.769C>G (p.Leu257Val)
|
rs761350633
|
0.00001
|
NM_003038.5(SLC1A4):c.272T>C (p.Leu91Pro)
|
rs1037527372
|
0.00001
|
NM_003051.4(SLC16A1):c.404T>C (p.Ile135Thr)
|
rs1570620206
|
0.00001
|
NM_003072.5(SMARCA4):c.1781G>A (p.Gly594Glu)
|
rs750891894
|
0.00001
|
NM_003072.5(SMARCA4):c.305G>T (p.Gly102Val)
|
rs746602808
|
0.00001
|
NM_003119.4(SPG7):c.2249C>T (p.Pro750Leu)
|
rs879253797
|
0.00001
|
NM_003119.4(SPG7):c.415C>T (p.Arg139Ter)
|
rs370777371
|
0.00001
|
NM_003128.3(SPTBN1):c.718C>G (p.Leu240Val)
|
rs752488873
|
0.00001
|
NM_003172.4(SURF1):c.575G>A (p.Arg192Gln)
|
rs782021521
|
0.00001
|
NM_003240.5(LEFTY2):c.1030C>A (p.Pro344Thr)
|
rs777139964
|
0.00001
|
NM_003322.6(TULP1):c.931C>T (p.Arg311Trp)
|
rs373519519
|
0.00001
|
NM_003466.4(PAX8):c.1139C>T (p.Thr380Ile)
|
rs987647241
|
0.00001
|
NM_003560.4(PLA2G6):c.2032A>G (p.Lys678Glu)
|
rs2087135251
|
0.00001
|
NM_003560.4(PLA2G6):c.2128C>T (p.Arg710Cys)
|
rs587784347
|
0.00001
|
NM_003611.3(OFD1):c.1100G>A (p.Arg367Gln)
|
rs312262864
|
0.00001
|
NM_003722.5(TP63):c.1528A>T (p.Met510Leu)
|
rs769778189
|
0.00001
|
NM_003738.5(PTCH2):c.1296_1300del (p.Val433fs)
|
rs781171287
|
0.00001
|
NM_003801.4(GPAA1):c.719A>G (p.Glu240Gly)
|
rs922800309
|
0.00001
|
NM_003846.3(PEX11B):c.1A>G (p.Met1Val)
|
rs782262926
|
0.00001
|
NM_003865.3(HESX1):c.313T>G (p.Trp105Gly)
|
rs754137696
|
0.00001
|
NM_003907.3(EIF2B5):c.889G>A (p.Gly297Ser)
|
rs962701773
|
0.00001
|
NM_004006.3(DMD):c.4258C>T (p.His1420Tyr)
|
rs1475038240
|
0.00001
|
NM_004006.3(DMD):c.5653C>T (p.Gln1885Ter)
|
rs1295935628
|
0.00001
|
NM_004006.3(DMD):c.6283C>T (p.Arg2095Ter)
|
rs398124008
|
0.00001
|
NM_004006.3(DMD):c.9388T>G (p.Cys3130Gly)
|
rs932848232
|
0.00001
|
NM_004044.7(ATIC):c.1085A>G (p.Tyr362Cys)
|
rs755898039
|
0.00001
|
NM_004082.5(DCTN1):c.2540C>G (p.Ala847Gly)
|
rs1573152106
|
0.00001
|
NM_004092.4(ECHS1):c.740C>T (p.Ala247Val)
|
rs762885546
|
0.00001
|
NM_004092.4(ECHS1):c.796A>G (p.Thr266Ala)
|
rs770614061
|
0.00001
|
NM_004168.4(SDHA):c.1242C>T (p.Pro414=)
|
rs777306884
|
0.00001
|
NM_004211.5(SLC6A5):c.1640T>C (p.Phe547Ser)
|
rs772652517
|
0.00001
|
NM_004260.4(RECQL4):c.1397C>T (p.Pro466Leu)
|
rs386833844
|
0.00001
|
NM_004284.6(CHD1L):c.1551A>G (p.Ile517Met)
|
rs376783101
|
0.00001
|
NM_004360.5(CDH1):c.1136C>T (p.Thr379Met)
|
rs587782856
|
0.00001
|
NM_004360.5(CDH1):c.2332G>A (p.Ala778Thr)
|
rs777078601
|
0.00001
|
NM_004360.5(CDH1):c.2351G>A (p.Arg784His)
|
rs763203357
|
0.00001
|
NM_004360.5(CDH1):c.2358C>T (p.Asp786=)
|
rs760701558
|
0.00001
|
NM_004360.5(CDH1):c.2530A>T (p.Ser844Cys)
|
rs761400928
|
0.00001
|
NM_004360.5(CDH1):c.254T>C (p.Val85Ala)
|
rs878854688
|
0.00001
|
NM_004360.5(CDH1):c.2638G>A (p.Glu880Lys)
|
rs34507583
|
0.00001
|
NM_004360.5(CDH1):c.79C>T (p.Pro27Ser)
|
rs878854696
|
0.00001
|
NM_004370.6(COL12A1):c.1216G>A (p.Ala406Thr)
|
rs377285294
|
0.00001
|
NM_004380.3(CREBBP):c.3485A>G (p.Asn1162Ser)
|
rs148166625
|
0.00001
|
NM_004415.4(DSP):c.2T>G (p.Met1Arg)
|
rs748738880
|
0.00001
|
NM_004461.3(FARSA):c.766T>C (p.Phe256Leu)
|
rs941586004
|
0.00001
|
NM_004618.5(TOP3A):c.2473C>T (p.Arg825Cys)
|
rs762382567
|
0.00001
|
NM_004628.5(XPC):c.706A>G (p.Ile236Val)
|
rs750767012
|
0.00001
|
NM_004656.4(BAP1):c.1166G>A (p.Arg389His)
|
rs770778299
|
0.00001
|
NM_004656.4(BAP1):c.1421C>T (p.Pro474Leu)
|
rs770422186
|
0.00001
|
NM_004656.4(BAP1):c.1642C>T (p.Arg548Cys)
|
rs748853790
|
0.00001
|
NM_004656.4(BAP1):c.1748C>T (p.Ser583Leu)
|
rs369259771
|
0.00001
|
NM_004656.4(BAP1):c.1793C>G (p.Pro598Arg)
|
rs763927840
|
0.00001
|
NM_004656.4(BAP1):c.1820C>T (p.Thr607Met)
|
rs770654975
|
0.00001
|
NM_004744.5(LRAT):c.163C>G (p.Arg55Gly)
|
rs527236079
|
0.00001
|
NM_004826.4(ECEL1):c.1211G>A (p.Arg404His)
|
rs751317107
|
0.00001
|
NM_004830.4(MED23):c.3982C>T (p.Arg1328Cys)
|
rs766478634
|
0.00001
|
NM_004840.3(ARHGEF6):c.1943A>G (p.Lys648Arg)
|
rs375084147
|
0.00001
|
NM_004863.4(SPTLC2):c.1292G>A (p.Gly431Asp)
|
rs746036150
|
0.00001
|
NM_004995.4(MMP14):c.440C>T (p.Ala147Val)
|
rs544049459
|
0.00001
|
NM_004999.4(MYO6):c.647A>T (p.Glu216Val)
|
rs121912559
|
0.00001
|
NM_005006.7(NDUFS1):c.1256G>A (p.Arg419Gln)
|
rs776114731
|
0.00001
|
NM_005026.5(PIK3CD):c.1714C>T (p.Pro572Ser)
|
rs1570385564
|
0.00001
|
NM_005026.5(PIK3CD):c.3071G>A (p.Arg1024His)
|
rs759704849
|
0.00001
|
NM_005055.5(RAPSN):c.61C>T (p.Gln21Ter)
|
rs1595903667
|
0.00001
|
NM_005094.4(SLC27A4):c.1523C>T (p.Thr508Met)
|
rs765311079
|
0.00001
|
NM_005144.5(HR):c.3034G>A (p.Asp1012Asn)
|
rs121434451
|
0.00001
|
NM_005186.4(CAPN1):c.1176G>A (p.Trp392Ter)
|
rs756830713
|
0.00001
|
NM_005228.5(EGFR):c.116C>T (p.Thr39Met)
|
rs375919121
|
0.00001
|
NM_005228.5(EGFR):c.1570G>A (p.Val524Ile)
|
rs587778249
|
0.00001
|
NM_005228.5(EGFR):c.1837G>A (p.Ala613Thr)
|
rs764290273
|
0.00001
|
NM_005228.5(EGFR):c.1840G>A (p.Gly614Ser)
|
rs779076899
|
0.00001
|
NM_005228.5(EGFR):c.2555A>G (p.Lys852Arg)
|
rs1292517709
|
0.00001
|
NM_005228.5(EGFR):c.2862C>T (p.Asp954=)
|
rs397517138
|
0.00001
|
NM_005228.5(EGFR):c.292C>T (p.Arg98Ter)
|
rs1794575659
|
0.00001
|
NM_005228.5(EGFR):c.3352G>A (p.Ala1118Thr)
|
rs770749711
|
0.00001
|
NM_005228.5(EGFR):c.59C>A (p.Pro20Gln)
|
rs1028735720
|
0.00001
|
NM_005228.5(EGFR):c.869C>T (p.Thr290Ile)
|
rs1020654485
|
0.00001
|
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)
|
rs397518413
|
0.00001
|
NM_005373.3(MPL):c.578G>A (p.Cys193Tyr)
|
rs1313333589
|
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_005431.2(XRCC2):c.714G>C (p.Arg238Ser)
|
rs534746330
|
0.00001
|
NM_005475.3(SH2B3):c.1A>G (p.Met1Val)
|
rs376261237
|
0.00001
|
NM_005548.3(KARS1):c.1493C>T (p.Ala498Val)
|
rs1415687857
|
0.00001
|
NM_005632.3(CAPN15):c.1930G>A (p.Ala644Thr)
|
rs773578611
|
0.00001
|
NM_005633.4(SOS1):c.1385T>A (p.Phe462Tyr)
|
rs730881043
|
0.00001
|
NM_005633.4(SOS1):c.571G>A (p.Glu191Lys)
|
rs886041241
|
0.00001
|
NM_005670.4(EPM2A):c.302-1G>C
|
rs369463720
|
0.00001
|
NM_005677.4(COLQ):c.219+1G>C
|
rs149020371
|
0.00001
|
NM_005689.4(ABCB6):c.169G>A (p.Ala57Thr)
|
rs387906911
|
0.00001
|
NM_005720.4(ARPC1B):c.64+1G>A
|
rs111297226
|
0.00001
|
NM_005726.6(TSFM):c.521C>T (p.Ala174Val)
|
rs748509130
|
0.00001
|
NM_005732.4(RAD50):c.1115A>G (p.Gln372Arg)
|
rs375070140
|
0.00001
|
NM_005732.4(RAD50):c.3037-6C>T
|
rs1209508205
|
0.00001
|
NM_005807.6(PRG4):c.3756dup (p.Lys1253Ter)
|
rs1406678014
|
0.00001
|
NM_005921.2(MAP3K1):c.770C>T (p.Pro257Leu)
|
rs56160159
|
0.00001
|
NM_005989.4(AKR1D1):c.332T>C (p.Leu111Pro)
|
rs187887082
|
0.00001
|
NM_006005.3(WFS1):c.472G>A (p.Glu158Lys)
|
rs567563179
|
0.00001
|
NM_006015.6(ARID1A):c.592C>T (p.Pro198Ser)
|
rs777557012
|
0.00001
|
NM_006017.3(PROM1):c.1157T>A (p.Leu386Ter)
|
rs886037880
|
0.00001
|
NM_006017.3(PROM1):c.1984-1G>T
|
rs373680665
|
0.00001
|
NM_006218.4(PIK3CA):c.1060-9T>C
|
rs750875731
|
0.00001
|
NM_006218.4(PIK3CA):c.1489A>C (p.Asn497His)
|
rs199563773
|
0.00001
|
NM_006218.4(PIK3CA):c.1850G>A (p.Arg617Gln)
|
rs3865687
|
0.00001
|
NM_006231.4(POLE):c.1359+4C>T
|
rs752118019
|
0.00001
|
NM_006231.4(POLE):c.1741G>T (p.Ala581Ser)
|
rs755090755
|
0.00001
|
NM_006231.4(POLE):c.1846C>T (p.Arg616Cys)
|
rs752076074
|
0.00001
|
NM_006231.4(POLE):c.2342C>T (p.Ala781Val)
|
rs1060500855
|
0.00001
|
NM_006231.4(POLE):c.3276-30C>T
|
rs773248517
|
0.00001
|
NM_006231.4(POLE):c.3582+7G>A
|
rs558837073
|
0.00001
|
NM_006231.4(POLE):c.3722A>C (p.Glu1241Ala)
|
rs755166232
|
0.00001
|
NM_006231.4(POLE):c.3865C>T (p.Arg1289Cys)
|
rs770036124
|
0.00001
|
NM_006231.4(POLE):c.3866G>A (p.Arg1289His)
|
rs781298285
|
0.00001
|
NM_006231.4(POLE):c.4427T>G (p.Phe1476Cys)
|
rs985504177
|
0.00001
|
NM_006231.4(POLE):c.4480C>G (p.Gln1494Glu)
|
rs1443837551
|
0.00001
|
NM_006231.4(POLE):c.5312C>T (p.Thr1771Met)
|
rs777695766
|
0.00001
|
NM_006231.4(POLE):c.5398G>A (p.Val1800Met)
|
rs199777048
|
0.00001
|
NM_006231.4(POLE):c.5429A>T (p.His1810Leu)
|
rs777390504
|
0.00001
|
NM_006231.4(POLE):c.5575C>G (p.Leu1859Val)
|
rs184253572
|
0.00001
|
NM_006231.4(POLE):c.5678+3G>A
|
rs1060500826
|
0.00001
|
NM_006231.4(POLE):c.5866G>A (p.Glu1956Lys)
|
rs749992643
|
0.00001
|
NM_006231.4(POLE):c.5900C>T (p.Ala1967Val)
|
rs201273415
|
0.00001
|
NM_006231.4(POLE):c.6166G>A (p.Ala2056Thr)
|
rs58916399
|
0.00001
|
NM_006231.4(POLE):c.6196A>G (p.Ile2066Val)
|
rs1266801207
|
0.00001
|
NM_006231.4(POLE):c.6433C>T (p.Arg2145Ter)
|
rs1451513451
|
0.00001
|
NM_006231.4(POLE):c.6540G>A (p.Ala2180=)
|
rs746976542
|
0.00001
|
NM_006231.4(POLE):c.6583G>A (p.Asp2195Asn)
|
rs1472336573
|
0.00001
|
NM_006231.4(POLE):c.6775C>T (p.Arg2259Trp)
|
rs866548835
|
0.00001
|
NM_006245.4(PPP2R5D):c.793A>C (p.Ile265Leu)
|
rs957822115
|
0.00001
|
NM_006269.2(RP1):c.1265dup (p.Ala423fs)
|
rs770659908
|
0.00001
|
NM_006303.4(AIMP2):c.31G>C (p.Gly11Arg)
|
rs1786347539
|
0.00001
|
NM_006308.3(HSPB3):c.279G>A (p.Trp93Ter)
|
rs142626276
|
0.00001
|
NM_006343.3(MERTK):c.2303C>T (p.Ala768Val)
|
rs778383770
|
0.00001
|
NM_006420.3(ARFGEF2):c.5254C>T (p.Arg1752Ter)
|
rs1380925561
|
0.00001
|
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys)
|
rs786205211
|
0.00001
|
NM_006493.4(CLN5):c.688G>A (p.Asp230Asn)
|
rs28940280
|
0.00001
|
NM_006516.4(SLC2A1):c.278G>A (p.Arg93Gln)
|
rs80359815
|
0.00001
|
NM_006521.6(TFE3):c.1525C>A (p.His509Asn)
|
rs997854429
|
0.00001
|
NM_006766.5(KAT6A):c.5776C>G (p.Arg1926Gly)
|
rs900174205
|
0.00001
|
NM_006767.4(LZTR1):c.1785+1G>A
|
rs145594158
|
0.00001
|
NM_006892.4(DNMT3B):c.2476C>T (p.Arg826Cys)
|
rs201579632
|
0.00001
|
NM_006946.4(SPTBN2):c.913C>T (p.Arg305Cys)
|
rs372293906
|
0.00001
|
NM_007055.4(POLR3A):c.1114G>A (p.Asp372Asn)
|
rs267608673
|
0.00001
|
NM_007059.4(KPTN):c.428C>T (p.Pro143Leu)
|
rs372955218
|
0.00001
|
NM_007194.3(CHEK2):c.-70A>T
|
rs1264820873
|
0.00001
|
NM_007194.4(CHEK2):c.-9G>C
|
rs1489154308
|
0.00001
|
NM_007194.4(CHEK2):c.1024G>A (p.Gly342Ser)
|
rs730881705
|
0.00001
|
NM_007194.4(CHEK2):c.1036C>T (p.Arg346Cys)
|
rs201206424
|
0.00001
|
NM_007194.4(CHEK2):c.1039G>A (p.Asp347Asn)
|
rs28909980
|
0.00001
|
NM_007194.4(CHEK2):c.1195G>A (p.Val399Ile)
|
rs876658682
|
0.00001
|
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter)
|
rs371418985
|
0.00001
|
NM_007194.4(CHEK2):c.1290T>C (p.His430=)
|
rs373864492
|
0.00001
|
NM_007194.4(CHEK2):c.1321A>G (p.Thr441Ala)
|
rs876660046
|
0.00001
|
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=)
|
rs749156425
|
0.00001
|
NM_007194.4(CHEK2):c.34T>A (p.Ser12Thr)
|
rs876661027
|
0.00001
|
NM_007194.4(CHEK2):c.485A>G (p.Asp162Gly)
|
rs587781652
|
0.00001
|
NM_007194.4(CHEK2):c.503C>T (p.Thr168Ile)
|
rs730881684
|
0.00001
|
NM_007194.4(CHEK2):c.557A>G (p.Asn186Ser)
|
rs369223840
|
0.00001
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
NM_007194.4(CHEK2):c.792+2T>C
|
rs545982789
|
0.00001
|
NM_007194.4(CHEK2):c.842A>G (p.Asn281Ser)
|
rs587782196
|
0.00001
|
NM_007194.4(CHEK2):c.846+1G>C
|
rs864622149
|
0.00001
|
NM_007194.4(CHEK2):c.851G>A (p.Cys284Tyr)
|
rs876658150
|
0.00001
|
NM_007194.4(CHEK2):c.904G>A (p.Glu302Lys)
|
rs587782460
|
0.00001
|
NM_007198.4(PLPBP):c.613C>T (p.Arg205Trp)
|
rs1384327533
|
0.00001
|
NM_007294.4(BRCA1):c.-20+28G>A
|
rs904265019
|
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.1687C>T (p.Gln563Ter)
|
rs80356898
|
0.00001
|
NM_007294.4(BRCA1):c.1712T>C (p.Ile571Thr)
|
rs80357159
|
0.00001
|
NM_007294.4(BRCA1):c.1797T>C (p.Asn599=)
|
rs756211343
|
0.00001
|
NM_007294.4(BRCA1):c.1868T>C (p.Leu623Pro)
|
rs397508915
|
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.2885A>G (p.Glu962Gly)
|
rs780367532
|
0.00001
|
NM_007294.4(BRCA1):c.301+12A>C
|
rs863224757
|
0.00001
|
NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys)
|
rs80357049
|
0.00001
|
NM_007294.4(BRCA1):c.3092T>G (p.Ile1031Ser)
|
rs863224758
|
0.00001
|
NM_007294.4(BRCA1):c.3432G>A (p.Gln1144=)
|
rs80356922
|
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.3711A>G (p.Ile1237Met)
|
rs80357388
|
0.00001
|
NM_007294.4(BRCA1):c.3868A>G (p.Lys1290Glu)
|
rs80357254
|
0.00001
|
NM_007294.4(BRCA1):c.4073A>G (p.Glu1358Gly)
|
rs397507225
|
0.00001
|
NM_007294.4(BRCA1):c.4096+1G>A
|
rs80358178
|
0.00001
|
NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn)
|
rs78951648
|
0.00001
|
NM_007294.4(BRCA1):c.4342A>G (p.Ser1448Gly)
|
rs80357486
|
0.00001
|
NM_007294.4(BRCA1):c.4344C>T (p.Ser1448=)
|
rs1250691798
|
0.00001
|
NM_007294.4(BRCA1):c.4358-2715C>A
|
rs746972533
|
0.00001
|
NM_007294.4(BRCA1):c.4485-10A>G
|
rs863224420
|
0.00001
|
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu)
|
rs80356943
|
0.00001
|
NM_007294.4(BRCA1):c.4843G>A (p.Ala1615Thr)
|
rs80356987
|
0.00001
|
NM_007294.4(BRCA1):c.488G>C (p.Arg163Thr)
|
rs1369043501
|
0.00001
|
NM_007294.4(BRCA1):c.4910C>T (p.Pro1637Leu)
|
rs80357048
|
0.00001
|
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln)
|
rs41293459
|
0.00001
|
NM_007294.4(BRCA1):c.5129G>A (p.Gly1710Glu)
|
rs398122691
|
0.00001
|
NM_007294.4(BRCA1):c.5277+98T>C
|
rs1597810191
|
0.00001
|
NM_007294.4(BRCA1):c.5332+15G>C
|
rs80358148
|
0.00001
|
NM_007294.4(BRCA1):c.5444G>A (p.Trp1815Ter)
|
rs80356962
|
0.00001
|
NM_007294.4(BRCA1):c.5573T>C (p.Ile1858Thr)
|
rs755427809
|
0.00001
|
NM_007294.4(BRCA1):c.701C>A (p.Thr234Lys)
|
rs1555593290
|
0.00001
|
NM_007294.4(BRCA1):c.755G>A (p.Arg252His)
|
rs80357138
|
0.00001
|
NM_007294.4(BRCA1):c.995G>A (p.Arg332Gln)
|
rs80357464
|
0.00001
|
NM_012079.6(DGAT1):c.838C>T (p.Arg280Ter)
|
rs1554847435
|
0.00001
|
NM_012199.5(AGO1):c.25+7G>A
|
rs1458276516
|
0.00001
|
NM_012295.4(CABIN1):c.5939C>T (p.Pro1980Leu)
|
rs532338041
|
0.00001
|
NM_012418.4(FSCN2):c.904A>T (p.Lys302Ter)
|
rs561813825
|
0.00001
|
NM_012470.4(TNPO3):c.1334C>T (p.Ala445Val)
|
rs1585339231
|
0.00001
|
NM_013432.5(TONSL):c.1480G>A (p.Glu494Lys)
|
rs775551492
|
0.00001
|
NM_013432.5(TONSL):c.2800C>T (p.Arg934Trp)
|
rs755575416
|
0.00001
|
NM_013444.4(UBQLN2):c.1319C>T (p.Pro440Leu)
|
rs763131369
|
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_014003.4(DHX38):c.967G>A (p.Asp323Asn)
|
rs1217647309
|
0.00001
|
NM_014215.3(INSRR):c.3537dup (p.Val1180fs)
|
rs761392074
|
0.00001
|
NM_014244.5(ADAMTS2):c.688+1G>A
|
rs1182409555
|
0.00001
|
NM_014251.3(SLC25A13):c.848+1G>T
|
rs761370420
|
0.00001
|
NM_014254.3(RXYLT1):c.429-2A>G
|
rs199605239
|
0.00001
|
NM_014363.6(SACS):c.3391C>T (p.Leu1131Phe)
|
rs139805032
|
0.00001
|
NM_014363.6(SACS):c.562G>A (p.Gly188Arg)
|
rs780184251
|
0.00001
|
NM_014874.4(MFN2):c.2258dup (p.Gln754fs)
|
rs773371488
|
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_015338.6(ASXL1):c.314C>T (p.Thr105Met)
|
rs749495615
|
0.00001
|
NM_015346.4(ZFYVE26):c.6296dup (p.Asn2100fs)
|
rs1555394376
|
0.00001
|
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs)
|
rs551541795
|
0.00001
|
NM_015466.4(PTPN23):c.1012T>G (p.Leu338Val)
|
rs1358808403
|
0.00001
|
NM_015559.3(SETBP1):c.4202G>A (p.Arg1401Gln)
|
rs775975116
|
0.00001
|
NM_015665.6(AAAS):c.938T>C (p.Val313Ala)
|
rs773601814
|
0.00001
|
NM_015836.4(WARS2):c.526G>T (p.Val176Phe)
|
rs745543661
|
0.00001
|
NM_015909.4(NBAS):c.680A>C (p.His227Pro)
|
rs748880753
|
0.00001
|
NM_016111.4(TELO2):c.1825C>T (p.Arg609Cys)
|
rs766665093
|
0.00001
|
NM_016111.4(TELO2):c.1842+5G>A
|
rs758551997
|
0.00001
|
NM_016138.5(COQ7):c.3G>T (p.Met1Ile)
|
rs746489573
|
0.00001
|
NM_016156.6(MTMR2):c.1090C>T (p.Arg364Ter)
|
rs776757548
|
0.00001
|
NM_016222.4(DDX41):c.364G>T (p.Glu122Ter)
|
rs200567842
|
0.00001
|
NM_016222.4(DDX41):c.931C>T (p.Arg311Ter)
|
rs899399494
|
0.00001
|
NM_016556.4(PSMC3IP):c.-35C>T
|
rs369453385
|
0.00001
|
NM_017534.6(MYH2):c.2806G>A (p.Glu936Lys)
|
rs1373237213
|
0.00001
|
NM_017534.6(MYH2):c.5095G>C (p.Glu1699Gln)
|
rs1321342402
|
0.00001
|
NM_017534.6(MYH2):c.533C>T (p.Thr178Ile)
|
rs756953958
|
0.00001
|
NM_017635.5(KMT5B):c.427C>T (p.Arg143Cys)
|
rs763305812
|
0.00001
|
NM_017644.3(KLHL24):c.1216C>T (p.Leu406Phe)
|
rs1214484497
|
0.00001
|
NM_017646.6(TRIT1):c.967C>T (p.Arg323Trp)
|
rs370866302
|
0.00001
|
NM_017649.5(CNNM2):c.595G>A (p.Ala199Thr)
|
rs984170802
|
0.00001
|
NM_017775.4(TTC19):c.1A>G (p.Met1Val)
|
rs749196122
|
0.00001
|
NM_017882.3(CLN6):c.898T>C (p.Trp300Arg)
|
rs750937323
|
0.00001
|
NM_018122.5(DARS2):c.610C>G (p.Leu204Val)
|
rs1020907363
|
0.00001
|
NM_018139.3(DNAAF2):c.2428C>T (p.Gln810Ter)
|
rs747290752
|
0.00001
|
NM_018196.4(TMLHE):c.359-2A>G
|
rs782792356
|
0.00001
|
NM_018263.6(ASXL2):c.2530G>C (p.Ala844Pro)
|
rs1444386149
|
0.00001
|
NM_018418.5(SPATA7):c.19+2T>A
|
rs866837129
|
0.00001
|
NM_018489.3(ASH1L):c.7249G>A (p.Ala2417Thr)
|
rs753396609
|
0.00001
|
NM_018941.4(CLN8):c.792C>G (p.Asn264Lys)
|
rs587779411
|
0.00001
|
NM_018951.4(HOXA10):c.170A>G (p.Tyr57Cys)
|
rs570291423
|
0.00001
|
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr)
|
rs936681187
|
0.00001
|
NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter)
|
rs200805087
|
0.00001
|
NM_019098.5(CNGB3):c.2T>C (p.Met1Thr)
|
rs1554619514
|
0.00001
|
NM_020247.5(COQ8A):c.1706C>A (p.Ala569Asp)
|
rs765235707
|
0.00001
|
NM_020320.5(RARS2):c.1282G>A (p.Gly428Arg)
|
rs764875815
|
0.00001
|
NM_020338.4(ZMIZ1):c.2286+3G>C
|
rs1244950516
|
0.00001
|
NM_020366.4(RPGRIP1):c.2012G>A (p.Gly671Glu)
|
rs1348186141
|
0.00001
|
NM_020366.4(RPGRIP1):c.800+1G>A
|
rs376500610
|
0.00001
|
NM_020366.4(RPGRIP1):c.800G>A (p.Arg267Gln)
|
rs758239674
|
0.00001
|
NM_020442.6(VARS2):c.1010C>T (p.Thr337Ile)
|
rs587777585
|
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_020745.4(AARS2):c.2255+1G>A
|
rs1186074948
|
0.00001
|
NM_020745.4(AARS2):c.964C>T (p.Arg322Cys)
|
rs767748655
|
0.00001
|
NM_020754.4(ARHGAP31):c.3586C>T (p.Gln1196Ter)
|
rs2080767698
|
0.00001
|
NM_020822.3(KCNT1):c.2782C>T (p.Arg928Cys)
|
rs397515405
|
0.00001
|
NM_020928.2(ZSWIM6):c.2557G>A (p.Glu853Lys)
|
rs748121822
|
0.00001
|
NM_020937.4(FANCM):c.1919T>C (p.Met640Thr)
|
rs768830366
|
0.00001
|
NM_020937.4(FANCM):c.424C>T (p.Pro142Ser)
|
rs771875070
|
0.00001
|
NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg)
|
rs183784665
|
0.00001
|
NM_020975.6(RET):c.1183G>C (p.Val395Leu)
|
rs1452469572
|
0.00001
|
NM_020975.6(RET):c.1448A>G (p.Tyr483Cys)
|
rs752322996
|
0.00001
|
NM_020975.6(RET):c.1462A>T (p.Thr488Ser)
|
rs753733901
|
0.00001
|
NM_020975.6(RET):c.1760-3C>T
|
rs587781734
|
0.00001
|
NM_020975.6(RET):c.1907C>T (p.Thr636Met)
|
rs1035958105
|
0.00001
|
NM_020975.6(RET):c.2129A>G (p.Lys710Arg)
|
rs774983492
|
0.00001
|
NM_020975.6(RET):c.2166G>T (p.Lys722Asn)
|
rs527726480
|
0.00001
|
NM_020975.6(RET):c.2234A>T (p.His745Leu)
|
rs534094626
|
0.00001
|
NM_020975.6(RET):c.2289C>T (p.Asn763=)
|
rs777349208
|
0.00001
|
NM_020975.6(RET):c.3052C>T (p.Leu1018Phe)
|
rs766330880
|
0.00001
|
NM_020975.6(RET):c.3091G>A (p.Asp1031Asn)
|
rs200989078
|
0.00001
|
NM_020975.6(RET):c.3314C>T (p.Ala1105Val)
|
rs532862288
|
0.00001
|
NM_020975.6(RET):c.3332C>T (p.Thr1111Met)
|
rs1003057639
|
0.00001
|
NM_020975.6(RET):c.652C>T (p.Pro218Ser)
|
rs1009392744
|
0.00001
|
NM_020987.5(ANK3):c.3727C>T (p.Arg1243Cys)
|
rs1589784865
|
0.00001
|
NM_020987.5(ANK3):c.8174G>A (p.Gly2725Asp)
|
rs993289778
|
0.00001
|
NM_021008.4(DEAF1):c.716A>G (p.Glu239Gly)
|
rs1064795812
|
0.00001
|
NM_021267.5(CERS1):c.763C>T (p.Arg255Cys)
|
rs1375601977
|
0.00001
|
NM_021625.5(TRPV4):c.214C>T (p.Gln72Ter)
|
rs866577166
|
0.00001
|
NM_021969.3(NR0B2):c.583G>T (p.Ala195Ser)
|
rs74315350
|
0.00001
|
NM_022048.5(CSNK1G1):c.80G>A (p.Arg27Gln)
|
rs762488597
|
0.00001
|
NM_022124.6(CDH23):c.5584G>A (p.Glu1862Lys)
|
rs773004408
|
0.00001
|
NM_022124.6(CDH23):c.9139G>A (p.Val3047Ile)
|
rs558094423
|
0.00001
|
NM_022773.4(LMF1):c.1391G>A (p.Trp464Ter)
|
rs587777626
|
0.00001
|
NM_022788.5(P2RY12):c.364C>T (p.Arg122Cys)
|
rs557043245
|
0.00001
|
NM_022788.5(P2RY12):c.793C>T (p.Arg265Trp)
|
rs121917886
|
0.00001
|
NM_022788.5(P2RY12):c.794G>C (p.Arg265Pro)
|
rs755459581
|
0.00001
|
NM_023067.4(FOXL2):c.772T>A (p.Tyr258Asn)
|
rs28937885
|
0.00001
|
NM_023110.3(FGFR1):c.358+4G>A
|
rs369853854
|
0.00001
|
NM_024426.6(WT1):c.1017-19C>T
|
rs1398407708
|
0.00001
|
NM_024426.6(WT1):c.1120C>T (p.Arg374Ter)
|
rs1423753702
|
0.00001
|
NM_024426.6(WT1):c.404C>T (p.Pro135Leu)
|
rs769642496
|
0.00001
|
NM_024426.6(WT1):c.661+8G>A
|
rs1313565005
|
0.00001
|
NM_024426.6(WT1):c.662G>A (p.Gly221Asp)
|
rs369444006
|
0.00001
|
NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter)
|
rs80338932
|
0.00001
|
NM_024649.5(BBS1):c.118del (p.Cys40fs)
|
rs1490351829
|
0.00001
|
NM_024675.4(PALB2):c.108+1G>A
|
rs1060499814
|
0.00001
|
NM_024675.4(PALB2):c.1140_1143del (p.Ser380fs)
|
rs1257545151
|
0.00001
|
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)
|
rs180177100
|
0.00001
|
NM_024675.4(PALB2):c.1311A>G (p.Lys437=)
|
rs190489275
|
0.00001
|
NM_024675.4(PALB2):c.1408A>G (p.Thr470Ala)
|
rs150636811
|
0.00001
|
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg)
|
rs756778249
|
0.00001
|
NM_024675.4(PALB2):c.1611G>A (p.Ser537=)
|
rs730881874
|
0.00001
|
NM_024675.4(PALB2):c.1675C>T (p.Gln559Ter)
|
rs1555461154
|
0.00001
|
NM_024675.4(PALB2):c.1886C>T (p.Ser629Phe)
|
rs1169756751
|
0.00001
|
NM_024675.4(PALB2):c.1923A>G (p.Lys641=)
|
rs775283927
|
0.00001
|
NM_024675.4(PALB2):c.2026A>C (p.Ile676Leu)
|
rs761478794
|
0.00001
|
NM_024675.4(PALB2):c.2116A>G (p.Thr706Ala)
|
rs767056829
|
0.00001
|
NM_024675.4(PALB2):c.212-6C>T
|
rs1416424510
|
0.00001
|
NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln)
|
rs587778586
|
0.00001
|
NM_024675.4(PALB2):c.229T>C (p.Cys77Arg)
|
rs760045493
|
0.00001
|
NM_024675.4(PALB2):c.2344C>T (p.Pro782Ser)
|
rs786203296
|
0.00001
|
NM_024675.4(PALB2):c.2401G>A (p.Asp801Asn)
|
rs587782765
|
0.00001
|
NM_024675.4(PALB2):c.2403C>G (p.Asp801Glu)
|
rs876659364
|
0.00001
|
NM_024675.4(PALB2):c.2438T>C (p.Ile813Thr)
|
rs763191051
|
0.00001
|
NM_024675.4(PALB2):c.2453T>C (p.Phe818Ser)
|
rs370908330
|
0.00001
|
NM_024675.4(PALB2):c.2720A>G (p.Glu907Gly)
|
rs45504298
|
0.00001
|
NM_024675.4(PALB2):c.2869A>C (p.Lys957Gln)
|
rs515726103
|
0.00001
|
NM_024675.4(PALB2):c.3194C>G (p.Ser1065Cys)
|
rs1347982621
|
0.00001
|
NM_024675.4(PALB2):c.3350+5G>A
|
rs587782566
|
0.00001
|
NM_024675.4(PALB2):c.495C>T (p.Gly165=)
|
rs200937538
|
0.00001
|
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter)
|
rs758732081
|
0.00001
|
NM_024996.7(GFM1):c.1822C>T (p.Arg608Trp)
|
rs762576741
|
0.00001
|
NM_025077.4(TOE1):c.52+130A>G
|
rs1215187269
|
0.00001
|
NM_025077.4(TOE1):c.52+97G>A
|
rs992028783
|
0.00001
|
NM_025114.4(CEP290):c.3911T>C (p.Met1304Thr)
|
rs761010723
|
0.00001
|
NM_025207.5(FLAD1):c.745C>T (p.Arg249Ter)
|
rs199979286
|
0.00001
|
NM_030632.3(ASXL3):c.2471C>T (p.Pro824Leu)
|
rs764053964
|
0.00001
|
NM_030954.4(RNF170):c.640A>G (p.Ile214Val)
|
rs587780441
|
0.00001
|
NM_030973.4(MED25):c.1366C>T (p.Gln456Ter)
|
rs758524310
|
0.00001
|
NM_030973.4(MED25):c.1396C>T (p.Arg466Trp)
|
rs759187460
|
0.00001
|
NM_031478.6(TLCD3B):c.166G>A (p.Gly56Ser)
|
rs745587834
|
0.00001
|
NM_032043.2(BRIP1):c.2097+8A>C
|
rs730881642
|
0.00001
|
NM_032043.3(BRIP1):c.-225G>A
|
rs1603369188
|
0.00001
|
NM_032043.3(BRIP1):c.-56C>G
|
rs1054876315
|
0.00001
|
NM_032043.3(BRIP1):c.1455T>C (p.Ala485=)
|
rs773489367
|
0.00001
|
NM_032043.3(BRIP1):c.1473+6A>G
|
rs587780827
|
0.00001
|
NM_032043.3(BRIP1):c.2119C>T (p.Arg707Cys)
|
rs764803896
|
0.00001
|
NM_032043.3(BRIP1):c.2257+5C>T
|
rs1057523068
|
0.00001
|
NM_032043.3(BRIP1):c.2344A>G (p.Ile782Val)
|
rs142806416
|
0.00001
|
NM_032043.3(BRIP1):c.2902A>G (p.Lys968Glu)
|
rs587782679
|
0.00001
|
NM_032043.3(BRIP1):c.2906-1G>A
|
rs773639563
|
0.00001
|
NM_032043.3(BRIP1):c.2914G>A (p.Val972Ile)
|
rs786203224
|
0.00001
|
NM_032043.3(BRIP1):c.3096T>G (p.Ser1032Arg)
|
rs763162379
|
0.00001
|
NM_032043.3(BRIP1):c.3122T>C (p.Met1041Thr)
|
rs761225576
|
0.00001
|
NM_032043.3(BRIP1):c.3178G>A (p.Val1060Ile)
|
rs149016505
|
0.00001
|
NM_032043.3(BRIP1):c.326A>G (p.Asn109Ser)
|
rs587782734
|
0.00001
|
NM_032043.3(BRIP1):c.3460A>G (p.Arg1154Gly)
|
rs769359514
|
0.00001
|
NM_032043.3(BRIP1):c.3693A>G (p.Ile1231Met)
|
rs1046992728
|
0.00001
|
NM_032043.3(BRIP1):c.509T>G (p.Ile170Ser)
|
rs1265322103
|
0.00001
|
NM_032043.3(BRIP1):c.991A>T (p.Met331Leu)
|
rs1380876424
|
0.00001
|
NM_032119.4(ADGRV1):c.13255A>G (p.Met4419Val)
|
rs1373626737
|
0.00001
|
NM_032119.4(ADGRV1):c.5857A>G (p.Ser1953Gly)
|
rs1425873975
|
0.00001
|
NM_032119.4(ADGRV1):c.6523G>T (p.Val2175Phe)
|
rs1746241769
|
0.00001
|
NM_032119.4(ADGRV1):c.9749-2del
|
rs1751549898
|
0.00001
|
NM_032444.4(SLX4):c.2878A>T (p.Ser960Cys)
|
rs772190416
|
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_032808.7(LINGO1):c.868C>T (p.Arg290Cys)
|
rs767873726
|
0.00001
|
NM_033100.4(CDHR1):c.862+4A>C
|
rs1352559639
|
0.00001
|
NM_033225.6(CSMD1):c.4892G>C (p.Gly1631Ala)
|
rs960975533
|
0.00001
|
NM_033343.4(LHX4):c.250C>T (p.Arg84Cys)
|
rs121912642
|
0.00001
|
NM_033409.4(SLC52A3):c.106G>A (p.Glu36Lys)
|
rs267606686
|
0.00001
|
NM_033453.4(ITPA):c.488+1G>A
|
rs1380443187
|
0.00001
|
NM_052989.3(IFT122):c.1367G>A (p.Cys456Tyr)
|
rs1335391766
|
0.00001
|
NM_054012.4(ASS1):c.175-1119G>A
|
rs1488840592
|
0.00001
|
NM_057175.5(NAA15):c.788G>C (p.Gly263Ala)
|
rs1294195844
|
0.00001
|
NM_058004.4(PI4KA):c.2575-1G>A
|
rs775166339
|
0.00001
|
NM_058195.4(CDKN2A):c.35G>A (p.Arg12Gln)
|
rs201877069
|
0.00001
|
NM_058216.3(RAD51C):c.-2C>T
|
rs876658796
|
0.00001
|
NM_058216.3(RAD51C):c.1097G>A (p.Arg366Gln)
|
rs577852020
|
0.00001
|
NM_058216.3(RAD51C):c.141C>T (p.Ser47=)
|
rs568912602
|
0.00001
|
NM_058216.3(RAD51C):c.145+11C>G
|
rs1263551026
|
0.00001
|
NM_058216.3(RAD51C):c.3G>A (p.Met1Ile)
|
rs769053886
|
0.00001
|
NM_058216.3(RAD51C):c.523G>A (p.Ala175Thr)
|
rs587780838
|
0.00001
|
NM_058216.3(RAD51C):c.547A>G (p.Ile183Val)
|
rs753475114
|
0.00001
|
NM_058216.3(RAD51C):c.571+4A>G
|
rs587780257
|
0.00001
|
NM_058216.3(RAD51C):c.656T>C (p.Leu219Ser)
|
rs201529791
|
0.00001
|
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter)
|
rs770637624
|
0.00001
|
NM_058216.3(RAD51C):c.710G>A (p.Arg237Gln)
|
rs370393672
|
0.00001
|
NM_080425.4(GNAS):c.1397_1398insC (p.Ala467fs)
|
rs1178804802
|
0.00001
|
NM_130797.4(DPP6):c.2304G>C (p.Glu768Asp)
|
rs1584993945
|
0.00001
|
NM_130837.3(OPA1):c.312A>G (p.Ile104Met)
|
rs755117948
|
0.00001
|
NM_133433.4(NIPBL):c.4378C>T (p.Leu1460Phe)
|
rs1580456602
|
0.00001
|
NM_133433.4(NIPBL):c.5195A>G (p.Lys1732Arg)
|
rs775226349
|
0.00001
|
NM_138459.5(NUS1):c.335C>G (p.Pro112Arg)
|
rs540846579
|
0.00001
|
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr)
|
rs369292828
|
0.00001
|
NM_138773.4(SLC25A46):c.779C>T (p.Pro260Leu)
|
rs1580870705
|
0.00001
|
NM_139242.4(MTFMT):c.4A>G (p.Arg2Gly)
|
rs991786040
|
0.00001
|
NM_145239.3(PRRT2):c.1011C>T (p.Gly337=)
|
rs745970212
|
0.00001
|
NM_145239.3(PRRT2):c.324_325del (p.Ser110fs)
|
rs886042013
|
0.00001
|
NM_145239.3(PRRT2):c.796C>T (p.Arg266Trp)
|
rs387907128
|
0.00001
|
NM_145239.3(PRRT2):c.959C>T (p.Ala320Val)
|
rs1301400509
|
0.00001
|
NM_152384.3(BBS5):c.209-1G>A
|
rs1172161975
|
0.00001
|
NM_152443.3(RDH12):c.464C>T (p.Thr155Ile)
|
rs121434337
|
0.00001
|
NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys)
|
rs28940313
|
0.00001
|
NM_152564.5(VPS13B):c.5220G>T (p.Glu1740Asp)
|
rs780598553
|
0.00001
|
NM_152795.4(HIF3A):c.1313G>A (p.Arg438Gln)
|
rs757326064
|
0.00001
|
NM_153033.5(KCTD7):c.281G>A (p.Arg94Gln)
|
rs984651812
|
0.00001
|
NM_153240.5(NPHP3):c.2805C>T (p.Gly935=)
|
rs1281725083
|
0.00001
|
NM_170606.3(KMT2C):c.10759C>G (p.Gln3587Glu)
|
rs567451018
|
0.00001
|
NM_170784.3(MKKS):c.169A>G (p.Thr57Ala)
|
rs74315399
|
0.00001
|
NM_170784.3(MKKS):c.429_430del (p.Asp143_Phe144insTer)
|
rs762222223
|
0.00001
|
NM_170784.3(MKKS):c.433_434del (p.Phe144_Ser145insTer)
|
rs764382536
|
0.00001
|
NM_172245.4(CSF2RA):c.586G>A (p.Gly196Arg)
|
rs137852353
|
0.00001
|
NM_172245.4(CSF2RA):c.595C>T (p.Arg199Ter)
|
rs1395037247
|
0.00001
|
NM_172245.4(CSF2RA):c.610C>T (p.Gln204Ter)
|
rs2091299213
|
0.00001
|
NM_172245.4(CSF2RA):c.649C>T (p.Arg217Ter)
|
rs753455319
|
0.00001
|
NM_173354.5(SIK1):c.1897C>T (p.Gln633Ter)
|
rs786205162
|
0.00001
|
NM_177438.3(DICER1):c.830C>T (p.Ala277Val)
|
rs986916694
|
0.00001
|
NM_177550.5(SLC13A5):c.1514C>T (p.Pro505Leu)
|
rs936922976
|
0.00001
|
NM_178857.6(RP1L1):c.2140C>T (p.Gln714Ter)
|
rs768294537
|
0.00001
|
NM_181552.4(CUX1):c.1361C>T (p.Ala454Val)
|
rs1212077259
|
0.00001
|
NM_181882.3(PRX):c.1529T>C (p.Met510Thr)
|
rs780375180
|
0.00001
|
NM_182961.4(SYNE1):c.4196T>C (p.Leu1399Pro)
|
rs754773565
|
0.00001
|
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter)
|
rs751599203
|
0.00001
|
NM_183050.4(BCKDHB):c.115G>A (p.Ala39Thr)
|
rs914935376
|
0.00001
|
NM_199242.3(UNC13D):c.1596+1G>C
|
rs933702160
|
0.00001
|
NM_199242.3(UNC13D):c.640C>T (p.Arg214Ter)
|
rs769243366
|
0.00001
|
NM_199242.3(UNC13D):c.817C>T (p.Arg273Ter)
|
rs201589664
|
0.00001
|
NM_201548.5(CERKL):c.356G>A (p.Gly119Asp)
|
rs1003615909
|
0.00001
|
NM_201631.4(TGM5):c.640del (p.Leu214fs)
|
rs606231277
|
0.00001
|
NM_201631.4(TGM5):c.684+1G>A
|
rs755087362
|
0.00001
|
NM_206933.4(USH2A):c.10712C>T (p.Thr3571Met)
|
rs202175091
|
0.00001
|
NM_206933.4(USH2A):c.1547G>T (p.Gly516Val)
|
rs1415484067
|
0.00001
|
NM_206933.4(USH2A):c.3368A>G (p.Tyr1123Cys)
|
rs775177930
|
0.00001
|
NM_206933.4(USH2A):c.5278del (p.Asp1760fs)
|
rs754374132
|
0.00001
|
NM_206933.4(USH2A):c.9815C>T (p.Pro3272Leu)
|
rs764182950
|
0.00001
|
NM_206933.4(USH2A):c.9920G>A (p.Cys3307Tyr)
|
rs983763783
|
0.00001
|
NM_206933.4(USH2A):c.9982T>A (p.Tyr3328Asn)
|
rs1558099268
|
0.00001
|
NM_207346.3(TSEN54):c.277T>C (p.Ser93Pro)
|
rs113994151
|
0.00001
|
NM_213655.5(WNK1):c.2920C>T (p.Gln974Ter)
|
rs1478989689
|
0.00001
|
NC_000001.10:g.100330092T>A
|
rs794729208
|
|
NC_000002.11:g.238258810delG
|
rs794729205
|
|
NC_000002.12:g.166051989del
|
rs1574266816
|
|
NC_000002.12:g.21043539_21043552del
|
rs2103389975
|
|
NC_000002.12:g.214809692G>A
|
rs551544754
|
|
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_000003.12:g.48589471del
|
rs1336602322
|
|
NC_000004.11:g.15589466_15589468delGAA
|
rs794729225
|
|
NC_000004.11:g.15601250_15601251delCT
|
rs794729226
|
|
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_000007.14:g.117664688_117667108del
|
|
|
NC_000009.12:g.134824601del
|
rs1588597744
|
|
NC_000010.11:g.3166389_3166390insAGAGAGGAATGGCACGCTAGGGAAG
|
|
|
NC_000010.11:g.87965287del
|
rs2132289111
|
|
NC_000011.10:g.108222768C>T
|
rs1056339095
|
|
NC_000014.9:g.23415255_23415272del
|
rs2138638795
|
|
NC_000015.10:g.65611127GGCATAAACTTTCCGTC[3]
|
rs531278113
|
|
NC_000015.9:g.68504037_68504039delGAT
|
rs121908080
|
|
NC_000017.11:g.43045086_43057213del
|
|
|
NC_000017.11:g.43110502_43125418del
|
|
|
NC_000017.11:g.43125443A>C
|
rs113323025
|
|
NC_000018.9:g.77748581_77748614del34
|
rs535089924
|
|
NC_000019.10:g.13599780G>A
|
rs1408235628
|
|
NC_000022.10:g.38511626C>T
|
rs794729212
|
|
NC_000022.11:g.36864921_36864935del
|
rs1200078508
|
|
NC_000023.11:g.32390170_32390182del
|
rs2147621477
|
|
NC_000023.11:g.32565874_32565883dup
|
rs2149095626
|
|
NC_012920.1(MT-ATP6):m.8783G>A
|
rs1603221804
|
|
NC_012920.1(MT-ATP6):m.9035T>C
|
rs1603222000
|
|
NC_012920.1(MT-CO1):m.7023G>A
|
rs2124593767
|
|
NC_012920.1(MT-CO2):m.7623C>T
|
rs2124594114
|
|
NC_012920.1(MT-CYB):m.10406G>A
|
rs1603222826
|
|
NC_012920.1(MT-CYB):m.12258C>T
|
rs118203888
|
|
NC_012920.1(MT-CYB):m.12264C>T
|
rs1603223642
|
|
NC_012920.1(MT-CYB):m.15170G>A
|
rs2124598725
|
|
NC_012920.1(MT-CYB):m.16002T>C
|
rs1603225633
|
|
NC_012920.1(MT-CYB):m.1630A>G
|
rs1603218588
|
|
NC_012920.1(MT-CYB):m.1644G>A
|
rs587776441
|
|
NC_012920.1(MT-CYB):m.1659T>C
|
rs1603218609
|
|
NC_012920.1(MT-CYB):m.3243A>T
|
rs199474657
|
|
NC_012920.1(MT-CYB):m.3255G>A
|
rs1603218856
|
|
NC_012920.1(MT-CYB):m.3302A>G
|
rs1603218878
|
|
NC_012920.1(MT-CYB):m.4296G>A
|
rs1603219393
|
|
NC_012920.1(MT-CYB):m.5540G>A
|
rs1603220014
|
|
NC_012920.1(MT-CYB):m.5543T>C
|
rs1603220016
|
|
NC_012920.1(MT-CYB):m.618T>C
|
rs1603218460
|
|
NC_012920.1(MT-CYB):m.8362T>G
|
rs1603221423
|
|
NC_012920.1(MT-ND1):m.3472T>C
|
rs1603218973
|
|
NC_012920.1(MT-ND1):m.3995A>G
|
rs1603219246
|
|
NC_012920.1(MT-ND5):m.12425del
|
rs1603223730
|
|
NC_012920.1(MT-ND5):m.13063G>A
|
rs1603224017
|
|
NC_012920.1(MT-TA):m.5613T>C
|
rs2124593028
|
|
NC_012920.1(MT-TD):m.7554G>A
|
rs1603221009
|
|
NC_012920.1(MT-TD):m.7566G>A
|
rs1603221016
|
|
NC_012920.1(MT-TE):m.14680C>A
|
rs2124598415
|
|
NC_012920.1(MT-TE):m.14724G>A
|
rs1603224846
|
|
NC_012920.1(MT-TF):m.636A>G
|
rs2068676972
|
|
NC_012920.1(MT-TH):m.12146A>G
|
rs2124597054
|
|
NC_012920.1(MT-TH):m.12187C>A
|
rs2068730503
|
|
NC_012920.1(MT-TK):m.8326A>G
|
rs2124594544
|
|
NC_012920.1(MT-TK):m.8328G>A
|
rs2124594549
|
|
NC_012920.1(MT-TL1):m.3244G>A
|
rs2124591503
|
|
NC_012920.1(MT-TL1):m.3264T>C
|
rs1603218861
|
|
NC_012920.1(MT-TL2):m.12317T>C
|
rs2124597137
|
|
NC_012920.1(MT-TP):m.16023G>A
|
rs55934780
|
|
NC_012920.1(MT-TR):m.10437G>A
|
rs2124596177
|
|
NC_012920.1(MT-TS1):m.7453G>A
|
rs2068703521
|
|
NC_012920.1(MT-TS1):m.7472A>C
|
rs1556423293
|
|
NC_012920.1(MT-TS1):m.7501T>A
|
rs1556423303
|
|
NC_012920.1(MT-TS2):m.12246C>A
|
rs28508189
|
|
NC_012920.1(MT-TV):m.1642G>A
|
rs2124591032
|
|
NC_012920.1:m.11467A>G
|
rs2853493
|
|
NC_012920.1:m.11778G>A
|
rs199476112
|
|
NC_012920.1:m.12271T>C
|
rs1131692061
|
|
NC_012920.1:m.12372G>A
|
rs2853499
|
|
NC_012920.1:m.13051G>A
|
rs1131692063
|
|
NC_012920.1:m.13094T>C
|
rs1603224029
|
|
NC_012920.1:m.14484T>C
|
rs199476104
|
|
NC_012920.1:m.14597A>G
|
rs797045055
|
|
NC_012920.1:m.14692A>G
|
rs879192165
|
|
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
|
|
NC_012920.1:m.1661A>G
|
rs1057516055
|
|
NC_012920.1:m.3243A>G
|
rs199474657
|
|
NC_012920.1:m.3291T>C
|
rs869312463
|
|
NC_012920.1:m.3460G>A
|
rs199476118
|
|
NC_012920.1:m.5631G>A
|
rs786200950
|
|
NC_012920.1:m.7443A>G
|
rs397507452
|
|
NC_012920.1:m.7445A>G
|
rs199474818
|
|
NC_012920.1:m.7445A>T
|
rs199474818
|
|
NC_012920.1:m.7462C>T
|
rs1569484151
|
|
NC_012920.1:m.7471dup
|
rs111033319
|
|
NC_012920.1:m.7505T>C
|
rs724159989
|
|
NC_012920.1:m.8418T>C
|
rs1057516062
|
|
NC_012920.1:m.8851T>C
|
rs199476136
|
|
NC_012920.1:m.8969G>A
|
rs794726857
|
|
NC_012920.1:m.8993T>C
|
rs199476133
|
|
NC_012920.1:m.8993T>G
|
rs199476133
|
|
NC_012920.1:m.9176T>C
|
rs199476135
|
|
NC_012920.1:m.9185T>C
|
rs199476138
|
|
NC_012920.1:m.9205_9206del
|
rs199476137
|
|
NC_012920.1:m.9237G>A
|
rs1057516064
|
|
NC_012920.1:m.9478T>C
|
rs587776437
|
|
NM_000016.6(ACADM):c.1184A>G (p.Lys395Arg)
|
rs776312173
|
|
NM_000016.6(ACADM):c.201T>A (p.Tyr67Ter)
|
rs754833969
|
|
NM_000016.6(ACADM):c.218A>C (p.Tyr73Ser)
|
rs1057521114
|
|
NM_000016.6(ACADM):c.387+1del
|
rs786204424
|
|
NM_000016.6(ACADM):c.709G>T (p.Glu237Ter)
|
rs1570891615
|
|
NM_000018.4(ACADVL):c.1292A>G (p.Asp431Gly)
|
rs2142985073
|
|
NM_000018.4(ACADVL):c.1322G>C (p.Gly441Ala)
|
rs2309689
|
|
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His)
|
rs794727112
|
|
NM_000018.4(ACADVL):c.1752-1G>A
|
rs2142990593
|
|
NM_000018.4(ACADVL):c.199A>T (p.Lys67Ter)
|
rs765432568
|
|
NM_000018.4(ACADVL):c.865G>C (p.Gly289Arg)
|
rs200788251
|
|
NM_000019.4(ACAT1):c.286C>T (p.Gln96Ter)
|
rs1233969418
|
|
NM_000021.4(PSEN1):c.1133G>A (p.Gly378Glu)
|
rs63750323
|
|
NM_000021.4(PSEN1):c.436A>T (p.Met146Leu)
|
rs63750306
|
|
NM_000021.4(PSEN1):c.497T>C (p.Leu166Pro)
|
rs63750265
|
|
NM_000023.4(SGCA):c.724G>T (p.Val242Phe)
|
rs200166783
|
|
NM_000026.2(ADSL):c.[1277G>A;994G>C]
|
|
|
NM_000026.4(ADSL):c.1152CAT[2] (p.Ile386del)
|
rs1601596522
|
|
NM_000026.4(ADSL):c.1222C>T (p.Gln408Ter)
|
rs747964752
|
|
NM_000026.4(ADSL):c.581G>A (p.Arg194His)
|
rs755359802
|
|
NM_000026.4(ADSL):c.725C>T (p.Thr242Ile)
|
rs1601586359
|
|
NM_000026.4(ADSL):c.994G>C (p.Asp332His)
|
rs776496275
|
|
NM_000030.3(AGXT):c.33dup (p.Lys12fs)
|
rs180177201
|
|
NM_000030.3(AGXT):c.683AGA[1] (p.Lys229del)
|
rs1553648979
|
|
NM_000033.4(ABCD1):c.1144A>C (p.Thr382Pro)
|
rs1603234466
|
|
NM_000033.4(ABCD1):c.1201C>T (p.Arg401Trp)
|
rs727503786
|
|
NM_000033.4(ABCD1):c.1430del (p.Glu477fs)
|
rs2148396057
|
|
NM_000033.4(ABCD1):c.1489-6del
|
rs398123101
|
|
NM_000033.4(ABCD1):c.1501A>T (p.Met501Leu)
|
rs1603235267
|
|
NM_000033.4(ABCD1):c.1534G>A (p.Gly512Ser)
|
rs1569541088
|
|
NM_000033.4(ABCD1):c.1738_1746del (p.Leu580_Val582del)
|
rs1603235421
|
|
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro)
|
rs201774661
|
|
NM_000033.4(ABCD1):c.1823G>A (p.Gly608Asp)
|
rs78993751
|
|
NM_000033.4(ABCD1):c.1853T>C (p.Met618Thr)
|
rs2148399060
|
|
NM_000033.4(ABCD1):c.1853del (p.Met618fs)
|
rs1603235941
|
|
NM_000033.4(ABCD1):c.1866-10G>A
|
rs398123108
|
|
NM_000033.4(ABCD1):c.1880T>C (p.Leu627Pro)
|
rs2148399201
|
|
NM_000033.4(ABCD1):c.1886A>T (p.Asp629Val)
|
rs2148399208
|
|
NM_000033.4(ABCD1):c.1998C>G (p.Tyr666Ter)
|
rs1170974058
|
|
NM_000033.4(ABCD1):c.2128C>T (p.Gln710Ter)
|
rs1479171194
|
|
NM_000033.4(ABCD1):c.341T>C (p.Leu114Pro)
|
rs1603231848
|
|
NM_000033.4(ABCD1):c.481T>C (p.Ser161Pro)
|
rs2148389260
|
|
NM_000033.4(ABCD1):c.521A>G (p.Tyr174Cys)
|
rs1557052390
|
|
NM_000033.4(ABCD1):c.878T>C (p.Ile293Thr)
|
rs1603232237
|
|
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys)
|
rs78340951
|
|
NM_000035.4(ALDOB):c.227G>T (p.Gly76Val)
|
rs764779161
|
|
NM_000037.4(ANK1):c.*36+989dup
|
rs59908561
|
|
NM_000038.5(APC):c.792del (p.Gly265Glufs)
|
rs863224459
|
|
NM_000038.6(APC):c.*409_*414dup
|
rs397817775
|
|
NM_000038.6(APC):c.1176C>G (p.His392Gln)
|
rs1580530148
|
|
NM_000038.6(APC):c.1266G>C (p.Glu422Asp)
|
rs1004279154
|
|
NM_000038.6(APC):c.1318G>C (p.Ala440Pro)
|
rs1064793023
|
|
NM_000038.6(APC):c.1467_1479del (p.Asn490fs)
|
rs1580565026
|
|
NM_000038.6(APC):c.170A>T (p.Asp57Val)
|
rs794729227
|
|
NM_000038.6(APC):c.1773C>G (p.Ala591=)
|
rs1580603391
|
|
NM_000038.6(APC):c.1798del (p.Thr600fs)
|
rs2149841625
|
|
NM_000038.6(APC):c.1864T>C (p.Tyr622His)
|
rs1561568794
|
|
NM_000038.6(APC):c.1886T>A (p.Leu629Ter)
|
rs1019221239
|
|
NM_000038.6(APC):c.1895_1958+28del
|
rs1561569140
|
|
NM_000038.6(APC):c.2254C>G (p.Leu752Val)
|
rs1561575778
|
|
NM_000038.6(APC):c.2281G>C (p.Glu761Gln)
|
rs1580620124
|
|
NM_000038.6(APC):c.2334_2337del (p.Asn778fs)
|
rs1580620655
|
|
NM_000038.6(APC):c.2357G>A (p.Arg786His)
|
rs1554084088
|
|
NM_000038.6(APC):c.2360G>A (p.Ser787Asn)
|
rs910898245
|
|
NM_000038.6(APC):c.2385_2386del (p.Tyr796fs)
|
rs1561576666
|
|
NM_000038.6(APC):c.2437A>C (p.Asn813His)
|
rs1580622204
|
|
NM_000038.6(APC):c.2623A>G (p.Lys875Glu)
|
rs1580624931
|
|
NM_000038.6(APC):c.2650G>A (p.Ala884Thr)
|
rs863224540
|
|
NM_000038.6(APC):c.2692C>T (p.His898Tyr)
|
rs758712508
|
|
NM_000038.6(APC):c.2776T>A (p.Ser926Thr)
|
rs1580626857
|
|
NM_000038.6(APC):c.278T>A (p.Leu93His)
|
rs876658977
|
|
NM_000038.6(APC):c.280C>G (p.Arg94Gly)
|
rs550945533
|
|
NM_000038.6(APC):c.2812A>G (p.Thr938Ala)
|
rs965844436
|
|
NM_000038.6(APC):c.2995C>G (p.Gln999Glu)
|
rs75239284
|
|
NM_000038.6(APC):c.3029G>A (p.Ser1010Asn)
|
rs864622584
|
|
NM_000038.6(APC):c.302G>A (p.Gly101Glu)
|
rs954713888
|
|
NM_000038.6(APC):c.3065A>G (p.Asp1022Gly)
|
rs1765328779
|
|
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer)
|
rs587779352
|
|
NM_000038.6(APC):c.3275A>C (p.His1092Pro)
|
rs587779788
|
|
NM_000038.6(APC):c.3319G>T (p.Ala1107Ser)
|
rs1060503283
|
|
NM_000038.6(APC):c.331A>G (p.Ser111Gly)
|
rs1580328938
|
|
NM_000038.6(APC):c.3374dup (p.Ser1126fs)
|
rs1561584336
|
|
NM_000038.6(APC):c.3425A>G (p.Asn1142Ser)
|
rs138410865
|
|
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.4124A>C (p.His1375Pro)
|
rs750884499
|
|
NM_000038.6(APC):c.412G>T (p.Glu138Ter)
|
rs1756477033
|
|
NM_000038.6(APC):c.4162A>G (p.Thr1388Ala)
|
rs1269810575
|
|
NM_000038.6(APC):c.4203dup (p.Ala1402fs)
|
rs1580645285
|
|
NM_000038.6(APC):c.423-3T>A
|
rs587782293
|
|
NM_000038.6(APC):c.423-4dup
|
rs730881230
|
|
NM_000038.6(APC):c.424T>A (p.Ser142Thr)
|
rs1311934641
|
|
NM_000038.6(APC):c.430C>T (p.Leu144Phe)
|
rs2149614495
|
|
NM_000038.6(APC):c.4325CTC[1] (p.Pro1443del)
|
rs1064793557
|
|
NM_000038.6(APC):c.4349G>T (p.Arg1450Leu)
|
rs587782678
|
|
NM_000038.6(APC):c.4434_4437del (p.Arg1478fs)
|
rs2149914657
|
|
NM_000038.6(APC):c.4435G>C (p.Val1479Leu)
|
rs1060503271
|
|
NM_000038.6(APC):c.4483dup (p.Ser1495fs)
|
rs1580648665
|
|
NM_000038.6(APC):c.4501del (p.Ser1501fs)
|
rs1580648975
|
|
NM_000038.6(APC):c.4556A>G (p.Asp1519Gly)
|
rs1245649089
|
|
NM_000038.6(APC):c.4583T>C (p.Val1528Ala)
|
rs1561593719
|
|
NM_000038.6(APC):c.4702GAT[3] (p.Asp1571del)
|
rs587782888
|
|
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly)
|
rs72541813
|
|
NM_000038.6(APC):c.4805C>A (p.Pro1602His)
|
rs1580652844
|
|
NM_000038.6(APC):c.4813G>A (p.Val1605Met)
|
rs1554086219
|
|
NM_000038.6(APC):c.4856C>A (p.Pro1619Gln)
|
rs952674488
|
|
NM_000038.6(APC):c.4987G>A (p.Glu1663Lys)
|
rs758987855
|
|
NM_000038.6(APC):c.4994C>A (p.Pro1665His)
|
rs1176817504
|
|
NM_000038.6(APC):c.5020G>A (p.Gly1674Arg)
|
rs899555020
|
|
NM_000038.6(APC):c.5038C>G (p.Gln1680Glu)
|
rs754122018
|
|
NM_000038.6(APC):c.5092G>A (p.Asp1698Asn)
|
rs745542459
|
|
NM_000038.6(APC):c.5357G>C (p.Arg1786Thr)
|
rs944674770
|
|
NM_000038.6(APC):c.5576A>G (p.Asn1859Ser)
|
rs876658164
|
|
NM_000038.6(APC):c.557G>C (p.Arg186Thr)
|
rs1561485438
|
|
NM_000038.6(APC):c.5624C>G (p.Ser1875Cys)
|
rs1460643869
|
|
NM_000038.6(APC):c.5723A>G (p.Asn1908Ser)
|
rs1064795748
|
|
NM_000038.6(APC):c.5741C>T (p.Ala1914Val)
|
rs199904481
|
|
NM_000038.6(APC):c.5860T>G (p.Phe1954Val)
|
rs2149951105
|
|
NM_000038.6(APC):c.5942A>G (p.Asn1981Ser)
|
rs1233897262
|
|
NM_000038.6(APC):c.6287C>G (p.Ser2096Ter)
|
rs1561606344
|
|
NM_000038.6(APC):c.6299A>G (p.Asp2100Gly)
|
rs2149961764
|
|
NM_000038.6(APC):c.6326A>G (p.Asn2109Ser)
|
rs774352590
|
|
NM_000038.6(APC):c.6374C>T (p.Ser2125Phe)
|
rs759624605
|
|
NM_000038.6(APC):c.645+2T>C
|
rs786202351
|
|
NM_000038.6(APC):c.6460C>A (p.Gln2154Lys)
|
rs1003613894
|
|
NM_000038.6(APC):c.6577A>C (p.Lys2193Gln)
|
rs1060503343
|
|
NM_000038.6(APC):c.6580G>A (p.Val2194Ile)
|
rs1554087547
|
|
NM_000038.6(APC):c.6620C>T (p.Ser2207Leu)
|
rs758337476
|
|
NM_000038.6(APC):c.6699T>G (p.Ile2233Met)
|
rs1057521840
|
|
NM_000038.6(APC):c.673G>C (p.Glu225Gln)
|
rs768233232
|
|
NM_000038.6(APC):c.6880G>A (p.Gly2294Arg)
|
rs1019564963
|
|
NM_000038.6(APC):c.7089A>G (p.Lys2363=)
|
rs864622761
|
|
NM_000038.6(APC):c.7193C>A (p.Ser2398Tyr)
|
rs150882838
|
|
NM_000038.6(APC):c.7391C>G (p.Ser2464Cys)
|
rs766473931
|
|
NM_000038.6(APC):c.7519C>T (p.Leu2507Phe)
|
rs1561616229
|
|
NM_000038.6(APC):c.7604G>A (p.Ser2535Asn)
|
rs1355563057
|
|
NM_000038.6(APC):c.7618C>G (p.Pro2540Ala)
|
rs1554088531
|
|
NM_000038.6(APC):c.7639T>G (p.Trp2547Gly)
|
rs1476294154
|
|
NM_000038.6(APC):c.7793C>T (p.Thr2598Ile)
|
rs747339588
|
|
NM_000038.6(APC):c.7844T>C (p.Ile2615Thr)
|
rs1317953419
|
|
NM_000038.6(APC):c.7942G>A (p.Ala2648Thr)
|
rs1195417407
|
|
NM_000038.6(APC):c.8023C>T (p.Pro2675Ser)
|
rs1561619997
|
|
NM_000038.6(APC):c.8038C>A (p.Pro2680Thr)
|
rs587780553
|
|
NM_000038.6(APC):c.807C>T (p.Ile269=)
|
rs1000878850
|
|
NM_000038.6(APC):c.8206A>G (p.Thr2736Ala)
|
rs1766677689
|
|
NM_000038.6(APC):c.8250G>C (p.Glu2750Asp)
|
rs767530768
|
|
NM_000038.6(APC):c.8281C>T (p.Pro2761Ser)
|
rs1060503332
|
|
NM_000038.6(APC):c.833_834insT (p.Gln278fs)
|
rs2149712600
|
|
NM_000038.6(APC):c.8398G>T (p.Ala2800Ser)
|
rs1554089100
|
|
NM_000038.6(APC):c.8430T>A (p.Asn2810Lys)
|
rs1057522374
|
|
NM_000038.6(APC):c.878G>A (p.Ser293Asn)
|
rs1040502776
|
|
NM_000038.6(APC):c.899C>T (p.Ala300Val)
|
rs1561535584
|
|
NM_000038.6(APC):c.904C>T (p.Arg302Ter)
|
rs137854568
|
|
NM_000038.6(APC):c.905G>A (p.Arg302Gln)
|
rs764841552
|
|
NM_000043.6(FAS):c.178del (p.His60fs)
|
rs1589465172
|
|
NM_000043.6(FAS):c.415del (p.Val139fs)
|
rs1589478691
|
|
NM_000043.6(FAS):c.651+2_651+3insTGAAAT
|
rs1589485636
|
|
NM_000043.6(FAS):c.725T>C (p.Leu242Pro)
|
rs764567970
|
|
NM_000043.6(FAS):c.748C>T (p.Arg250Ter)
|
rs778993919
|
|
NM_000044.6(AR):c.1025C>T (p.Pro342Leu)
|
rs138454018
|
|
NM_000044.6(AR):c.161TGC[5] (p.Leu57dup)
|
rs752055010
|
|
NM_000044.6(AR):c.171GCA[24] (p.Gln80dup)
|
rs3032358
|
|
NM_000045.4(ARG1):c.317G>A (p.Gly106Glu)
|
rs1441486160
|
|
NM_000045.4(ARG1):c.404C>T (p.Thr135Ile)
|
rs1451472748
|
|
NM_000045.4(ARG1):c.646_649del (p.Leu216fs)
|
rs756080885
|
|
NM_000046.5(ARSB):c.1534_1556del (p.Val512fs)
|
rs1310996698
|
|
NM_000046.5(ARSB):c.345G>A (p.Trp115Ter)
|
rs2112530498
|
|
NM_000046.5(ARSB):c.427del (p.Val143fs)
|
rs766914147
|
|
NM_000046.5(ARSB):c.899-5T>C
|
rs1172834965
|
|
NM_000046.5(ARSB):c.959G>T (p.Ser320Ile)
|
rs2112211996
|
|
NM_000047.3(ARSL):c.-14GA[6]
|
rs200332753
|
|
NM_000048.4(ASL):c.299T>A (p.Ile100Asn)
|
rs202142867
|
|
NM_000051.3(ATM):c.-328A>T
|
rs4987880
|
|
NM_000051.4(ATM):c.-15C>T
|
rs1204830852
|
|
NM_000051.4(ATM):c.103C>T (p.Arg35Ter)
|
rs55861249
|
|
NM_000051.4(ATM):c.1065+1G>T
|
rs201089102
|
|
NM_000051.4(ATM):c.1082C>A (p.Thr361Asn)
|
rs1565378803
|
|
NM_000051.4(ATM):c.1106C>T (p.Ser369Phe)
|
rs762557654
|
|
NM_000051.4(ATM):c.1236-10_1236-3dup
|
rs34325032
|
|
NM_000051.4(ATM):c.1236-1G>T
|
rs1408719214
|
|
NM_000051.4(ATM):c.1236-1_1237del
|
rs1591522664
|
|
NM_000051.4(ATM):c.1236-2A>G
|
rs80159221
|
|
NM_000051.4(ATM):c.1236-2_1236-1del
|
rs1591522638
|
|
NM_000051.4(ATM):c.1236-2_1236del
|
rs1591522646
|
|
NM_000051.4(ATM):c.1236-2_1237del
|
rs1591522650
|
|
NM_000051.4(ATM):c.1236-3del
|
rs34325032
|
|
NM_000051.4(ATM):c.1236G>T (p.Trp412Cys)
|
rs79220522
|
|
NM_000051.4(ATM):c.1236_1237insTT (p.Leu413fs)
|
rs1591522681
|
|
NM_000051.4(ATM):c.1236_1237insTTTT (p.Leu413fs)
|
rs1591522681
|
|
NM_000051.4(ATM):c.1238_1239insTTT (p.Leu413dup)
|
rs1420011788
|
|
NM_000051.4(ATM):c.1238_1239insTTTT (p.Gln414fs)
|
rs1420011788
|
|
NM_000051.4(ATM):c.1240C>A (p.Gln414Lys)
|
rs866521873
|
|
NM_000051.4(ATM):c.1240C>T (p.Gln414Ter)
|
rs866521873
|
|
NM_000051.4(ATM):c.1243A>T (p.Ile415Phe)
|
rs1591522756
|
|
NM_000051.4(ATM):c.1245_1246insTTTTTT (p.Ile415_Ala416insPhePhe)
|
rs1591522786
|
|
NM_000051.4(ATM):c.1273G>T (p.Ala425Ser)
|
rs769214234
|
|
NM_000051.4(ATM):c.1274C>A (p.Ala425Glu)
|
rs1301649540
|
|
NM_000051.4(ATM):c.1300C>G (p.Pro434Ala)
|
rs1064795171
|
|
NM_000051.4(ATM):c.1358C>T (p.Pro453Leu)
|
rs786204124
|
|
NM_000051.4(ATM):c.1370G>A (p.Arg457Gln)
|
rs780097986
|
|
NM_000051.4(ATM):c.1483A>G (p.Ile495Val)
|
rs786201969
|
|
NM_000051.4(ATM):c.1495C>T (p.Gln499Ter)
|
rs1555071075
|
|
NM_000051.4(ATM):c.1520T>A (p.Leu507Ter)
|
rs2135325561
|
|
NM_000051.4(ATM):c.1745_1749del (p.Phe582fs)
|
rs1565385883
|
|
NM_000051.4(ATM):c.1825G>C (p.Glu609Gln)
|
rs779780896
|
|
NM_000051.4(ATM):c.1900G>C (p.Glu634Gln)
|
rs2135365529
|
|
NM_000051.4(ATM):c.2068C>A (p.Leu690Met)
|
rs1555073437
|
|
NM_000051.4(ATM):c.2124+5G>A
|
rs1565390942
|
|
NM_000051.4(ATM):c.2134T>G (p.Ser712Ala)
|
rs1565394509
|
|
NM_000051.4(ATM):c.2182T>A (p.Cys728Ser)
|
rs1565394820
|
|
NM_000051.4(ATM):c.2254C>G (p.Leu752Val)
|
rs756522395
|
|
NM_000051.4(ATM):c.2376+9TTC[2]
|
rs757318914
|
|
NM_000051.4(ATM):c.2466+5G>T
|
rs1064795969
|
|
NM_000051.4(ATM):c.2467-90C>T
|
rs2135503255
|
|
NM_000051.4(ATM):c.2476A>G (p.Ile826Val)
|
rs587782397
|
|
NM_000051.4(ATM):c.2486C>A (p.Pro829Gln)
|
rs1565416001
|
|
NM_000051.4(ATM):c.2533A>C (p.Asn845His)
|
rs1591587679
|
|
NM_000051.4(ATM):c.2542G>C (p.Glu848Gln)
|
rs879254046
|
|
NM_000051.4(ATM):c.2593A>C (p.Ser865Arg)
|
rs2081310612
|
|
NM_000051.4(ATM):c.2612A>G (p.Glu871Gly)
|
rs2081311812
|
|
NM_000051.4(ATM):c.2621A>G (p.Glu874Gly)
|
rs1555082338
|
|
NM_000051.4(ATM):c.2639-21A>G
|
rs2135522420
|
|
NM_000051.4(ATM):c.2657C>G (p.Ala886Gly)
|
rs2081381149
|
|
NM_000051.4(ATM):c.2819A>C (p.Lys940Thr)
|
rs762078586
|
|
NM_000051.4(ATM):c.2921+4A>C
|
rs1565424660
|
|
NM_000051.4(ATM):c.2922-8del
|
rs373881770
|
|
NM_000051.4(ATM):c.2945G>A (p.Arg982His)
|
rs749471737
|
|
NM_000051.4(ATM):c.3143C>T (p.Thr1048Ile)
|
rs1565427949
|
|
NM_000051.4(ATM):c.3146T>C (p.Leu1049Ser)
|
rs1373504805
|
|
NM_000051.4(ATM):c.3272_3273del (p.Glu1091fs)
|
rs1565429102
|
|
NM_000051.4(ATM):c.3293A>G (p.Gln1098Arg)
|
rs1060501590
|
|
NM_000051.4(ATM):c.3346C>T (p.Gln1116Ter)
|
rs2135644009
|
|
NM_000051.4(ATM):c.3353C>T (p.Thr1118Ile)
|
rs539847847
|
|
NM_000051.4(ATM):c.3398A>T (p.Glu1133Val)
|
rs1565439583
|
|
NM_000051.4(ATM):c.3403-13A>T
|
rs1591636037
|
|
NM_000051.4(ATM):c.3403-9C>T
|
rs375483605
|
|
NM_000051.4(ATM):c.3435del (p.Asp1145fs)
|
rs1591636349
|
|
NM_000051.4(ATM):c.3485T>G (p.Leu1162Ter)
|
rs1591636613
|
|
NM_000051.4(ATM):c.3577-30C>T
|
rs751436997
|
|
NM_000051.4(ATM):c.3695C>G (p.Ser1232Cys)
|
rs367603277
|
|
NM_000051.4(ATM):c.3783T>G (p.Ile1261Met)
|
rs1005444925
|
|
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)
|
rs587779834
|
|
NM_000051.4(ATM):c.3872T>C (p.Leu1291Pro)
|
rs1555093536
|
|
NM_000051.4(ATM):c.3934A>G (p.Arg1312Gly)
|
rs864622137
|
|
NM_000051.4(ATM):c.403G>A (p.Ala135Thr)
|
rs1272089657
|
|
NM_000051.4(ATM):c.4070C>G (p.Ser1357Cys)
|
rs730881390
|
|
NM_000051.4(ATM):c.4109+8C>T
|
rs1591656404
|
|
NM_000051.4(ATM):c.4114T>G (p.Leu1372Val)
|
rs762242838
|
|
NM_000051.4(ATM):c.4130A>G (p.Asn1377Ser)
|
rs1565454896
|
|
NM_000051.4(ATM):c.4236+7A>G
|
rs1207435429
|
|
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter)
|
rs730881369
|
|
NM_000051.4(ATM):c.4411A>G (p.Thr1471Ala)
|
rs2082684549
|
|
NM_000051.4(ATM):c.4534G>A (p.Ala1512Thr)
|
rs1060501653
|
|
NM_000051.4(ATM):c.4587T>G (p.Tyr1529Ter)
|
rs1555100005
|
|
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.4664T>A (p.Leu1555His)
|
rs1060501524
|
|
NM_000051.4(ATM):c.4775A>G (p.Glu1592Gly)
|
rs1565463405
|
|
NM_000051.4(ATM):c.4776+2T>C
|
rs587781927
|
|
NM_000051.4(ATM):c.4777-6T>C
|
rs1565465980
|
|
NM_000051.4(ATM):c.4787A>G (p.His1596Arg)
|
rs2135833806
|
|
NM_000051.4(ATM):c.4910-1G>C
|
rs1060501706
|
|
NM_000051.4(ATM):c.497-1G>T
|
rs778624615
|
|
NM_000051.4(ATM):c.497-2A>T
|
rs1278985870
|
|
NM_000051.4(ATM):c.497-2_498del
|
rs1591499502
|
|
NM_000051.4(ATM):c.497-3_498del
|
rs1205233530
|
|
NM_000051.4(ATM):c.4980C>A (p.Asn1660Lys)
|
rs144338238
|
|
NM_000051.4(ATM):c.498A>T (p.Glu166Asp)
|
rs587779842
|
|
NM_000051.4(ATM):c.501G>T (p.Leu167Phe)
|
rs1181703620
|
|
NM_000051.4(ATM):c.504C>T (p.Phe168=)
|
rs1060504312
|
|
NM_000051.4(ATM):c.5053A>G (p.Thr1685Ala)
|
rs879254205
|
|
NM_000051.4(ATM):c.506C>T (p.Ser169Phe)
|
rs587779843
|
|
NM_000051.4(ATM):c.512A>T (p.Tyr171Phe)
|
rs1060501616
|
|
NM_000051.4(ATM):c.5132C>A (p.Thr1711Asn)
|
rs1291016764
|
|
NM_000051.4(ATM):c.513C>T (p.Tyr171=)
|
rs786201693
|
|
NM_000051.4(ATM):c.5160C>A (p.Asn1720Lys)
|
rs1565474287
|
|
NM_000051.4(ATM):c.520C>T (p.Leu174Phe)
|
rs1565369274
|
|
NM_000051.4(ATM):c.5258A>G (p.Tyr1753Cys)
|
rs777481236
|
|
NM_000051.4(ATM):c.5306C>A (p.Thr1769Lys)
|
rs1192250974
|
|
NM_000051.4(ATM):c.5309C>A (p.Ser1770Ter)
|
rs121434223
|
|
NM_000051.4(ATM):c.5312G>A (p.Arg1771Lys)
|
rs1416930012
|
|
NM_000051.4(ATM):c.5462G>T (p.Cys1821Phe)
|
rs1565479431
|
|
NM_000051.4(ATM):c.5535G>C (p.Leu1845Phe)
|
rs2135943227
|
|
NM_000051.4(ATM):c.5576G>A (p.Arg1859Lys)
|
rs1060501568
|
|
NM_000051.4(ATM):c.5584C>T (p.Leu1862Phe)
|
rs149362482
|
|
NM_000051.4(ATM):c.55A>G (p.Arg19Gly)
|
rs1565344118
|
|
NM_000051.4(ATM):c.5605T>C (p.Phe1869Leu)
|
rs975721205
|
|
NM_000051.4(ATM):c.5624G>A (p.Arg1875Gln)
|
rs762304746
|
|
NM_000051.4(ATM):c.5639C>A (p.Thr1880Lys)
|
rs587780628
|
|
NM_000051.4(ATM):c.5712dup (p.Ser1905fs)
|
rs587781730
|
|
NM_000051.4(ATM):c.5715A>G (p.Ser1905=)
|
rs1057524579
|
|
NM_000051.4(ATM):c.5757_5761del (p.Lys1920fs)
|
rs1591732424
|
|
NM_000051.4(ATM):c.5761A>G (p.Arg1921Gly)
|
rs1060501527
|
|
NM_000051.4(ATM):c.5899A>G (p.Met1967Val)
|
rs1060501541
|
|
NM_000051.4(ATM):c.5966T>G (p.Leu1989Trp)
|
rs1565493603
|
|
NM_000051.4(ATM):c.5977_5978insAAAAAAAAA (p.Lys1992_Ser1993insLysLysLys)
|
rs1591758642
|
|
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.6092C>T (p.Thr2031Ile)
|
rs1555113613
|
|
NM_000051.4(ATM):c.610G>T (p.Gly204Ter)
|
rs147915571
|
|
NM_000051.4(ATM):c.6185C>A (p.Ala2062Glu)
|
rs1565499989
|
|
NM_000051.4(ATM):c.6217C>T (p.Leu2073Phe)
|
rs767406075
|
|
NM_000051.4(ATM):c.6260A>G (p.Glu2087Gly)
|
rs1565503023
|
|
NM_000051.4(ATM):c.6280del (p.Glu2094fs)
|
rs1565503198
|
|
NM_000051.4(ATM):c.6347+31del
|
rs58978479
|
|
NM_000051.4(ATM):c.6348-1G>A
|
rs1057517302
|
|
NM_000051.4(ATM):c.6348-9A>T
|
rs1591099349
|
|
NM_000051.4(ATM):c.6355G>T (p.Val2119Leu)
|
rs1266938537
|
|
NM_000051.4(ATM):c.6404dup (p.Arg2136fs)
|
rs587782554
|
|
NM_000051.4(ATM):c.640del (p.Ser214fs)
|
rs786204543
|
|
NM_000051.4(ATM):c.6493T>A (p.Ser2165Thr)
|
rs1555117132
|
|
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.6575C>G (p.Ser2192Ter)
|
rs2136306738
|
|
NM_000051.4(ATM):c.6677T>C (p.Leu2226Pro)
|
rs1565518489
|
|
NM_000051.4(ATM):c.6689T>C (p.Ile2230Thr)
|
rs587781562
|
|
NM_000051.4(ATM):c.6825A>G (p.Ile2275Met)
|
rs1591133274
|
|
NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu)
|
rs1800061
|
|
NM_000051.4(ATM):c.6897C>G (p.Phe2299Leu)
|
rs777164914
|
|
NM_000051.4(ATM):c.68G>A (p.Arg23Gln)
|
rs587779858
|
|
NM_000051.4(ATM):c.6975G>A (p.Ala2325=)
|
rs556778314
|
|
NM_000051.4(ATM):c.6987C>G (p.Ser2329Arg)
|
rs1591142078
|
|
NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile)
|
rs150503164
|
|
NM_000051.4(ATM):c.7037C>T (p.Ala2346Val)
|
rs2085819145
|
|
NM_000051.4(ATM):c.7061C>T (p.Ala2354Val)
|
rs1555121079
|
|
NM_000051.4(ATM):c.7166C>A (p.Ser2389Ter)
|
rs1018140779
|
|
NM_000051.4(ATM):c.7202T>C (p.Ile2401Thr)
|
rs1555122117
|
|
NM_000051.4(ATM):c.7223C>G (p.Ser2408Trp)
|
rs730881315
|
|
NM_000051.4(ATM):c.7234A>G (p.Asn2412Asp)
|
rs2085991994
|
|
NM_000051.4(ATM):c.7248C>T (p.Leu2416=)
|
rs750513866
|
|
NM_000051.4(ATM):c.7262A>C (p.Lys2421Thr)
|
rs1360453074
|
|
NM_000051.4(ATM):c.7269A>T (p.Glu2423Asp)
|
rs864622471
|
|
NM_000051.4(ATM):c.7273G>A (p.Gly2425Ser)
|
rs2136421981
|
|
NM_000051.4(ATM):c.7375C>G (p.Arg2459Gly)
|
rs730881383
|
|
NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp)
|
rs876659365
|
|
NM_000051.4(ATM):c.748C>T (p.Arg250Ter)
|
rs772821016
|
|
NM_000051.4(ATM):c.7542_7543del (p.Tyr2514_Lys2515delinsTer)
|
rs1555123981
|
|
NM_000051.4(ATM):c.7595T>C (p.Met2532Thr)
|
rs765654550
|
|
NM_000051.4(ATM):c.75A>G (p.Lys25=)
|
rs1591446716
|
|
NM_000051.4(ATM):c.7629+12_7629+15del
|
rs1555124156
|
|
NM_000051.4(ATM):c.7630-29G>T
|
rs1591170490
|
|
NM_000051.4(ATM):c.7630-37G>T
|
rs1591170392
|
|
NM_000051.4(ATM):c.7696G>A (p.Ala2566Thr)
|
rs1060501604
|
|
NM_000051.4(ATM):c.7789-15G>T
|
rs781449587
|
|
NM_000051.4(ATM):c.7789-3T>G
|
rs864622185
|
|
NM_000051.4(ATM):c.7789-8A>T
|
rs1591177900
|
|
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro)
|
rs267606668
|
|
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs)
|
rs1450394308
|
|
NM_000051.4(ATM):c.7907C>T (p.Thr2636Ile)
|
rs2086428372
|
|
NM_000051.4(ATM):c.7917G>C (p.Lys2639Asn)
|
rs1555125501
|
|
NM_000051.4(ATM):c.7942C>A (p.Pro2648Thr)
|
rs878853547
|
|
NM_000051.4(ATM):c.795T>G (p.Ile265Met)
|
rs1290222131
|
|
NM_000051.4(ATM):c.7966C>G (p.Leu2656Val)
|
rs1591184384
|
|
NM_000051.4(ATM):c.8010+1del
|
rs876659350
|
|
NM_000051.4(ATM):c.8066A>G (p.Glu2689Gly)
|
rs759779781
|
|
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)
|
rs587782719
|
|
NM_000051.4(ATM):c.8152-1G>T
|
rs1398616877
|
|
NM_000051.4(ATM):c.8268+1G>T
|
rs876658957
|
|
NM_000051.4(ATM):c.8292_8293del (p.Ser2764fs)
|
rs879254036
|
|
NM_000051.4(ATM):c.8313A>C (p.Thr2771=)
|
rs1555135563
|
|
NM_000051.4(ATM):c.8473_8479del (p.Gln2825fs)
|
rs2137028850
|
|
NM_000051.4(ATM):c.8484del (p.Gln2828fs)
|
rs1565563579
|
|
NM_000051.4(ATM):c.8585-2A>C
|
rs1060501700
|
|
NM_000051.4(ATM):c.865A>G (p.Ile289Val)
|
rs1555067259
|
|
NM_000051.4(ATM):c.8790C>G (p.Cys2930Trp)
|
rs1565582275
|
|
NM_000051.4(ATM):c.8843T>C (p.Ile2948Thr)
|
rs876659516
|
|
NM_000051.4(ATM):c.8846T>C (p.Val2949Ala)
|
rs2089701066
|
|
NM_000051.4(ATM):c.8867C>T (p.Pro2956Leu)
|
rs1555151244
|
|
NM_000051.4(ATM):c.8893T>C (p.Leu2965=)
|
rs1060504287
|
|
NM_000051.4(ATM):c.8923G>T (p.Glu2975Ter)
|
rs2091208125
|
|
NM_000051.4(ATM):c.8942A>G (p.His2981Arg)
|
rs750441954
|
|
NM_000051.4(ATM):c.8988-1G>A
|
rs730881386
|
|
NM_000051.4(ATM):c.9079dup (p.Ser3027fs)
|
rs587780645
|
|
NM_000051.4(ATM):c.9112C>A (p.Gln3038Lys)
|
rs1591387978
|
|
NM_000051.4(ATM):c.9146del (p.Phe3049fs)
|
rs1555152058
|
|
NM_000051.4(ATM):c.9164G>C (p.Trp3055Ser)
|
rs2137930567
|
|
NM_000051.4(ATM):c.969A>G (p.Ile323Met)
|
rs1565375220
|
|
NM_000052.7(ATP7A):c.1668_1680del (p.Ile556fs)
|
rs2149090269
|
|
NM_000052.7(ATP7A):c.1856T>C (p.Ile619Thr)
|
rs1569549841
|
|
NM_000052.7(ATP7A):c.1947-1G>A
|
rs794729231
|
|
NM_000052.7(ATP7A):c.2180G>A (p.Gly727Glu)
|
rs2149095964
|
|
NM_000052.7(ATP7A):c.2836_2837del (p.Val946fs)
|
rs1603387278
|
|
NM_000052.7(ATP7A):c.2916+3A>T
|
rs2149100212
|
|
NM_000052.7(ATP7A):c.3132T>C (p.Asp1044=)
|
rs797045370
|
|
NM_000052.7(ATP7A):c.3278C>T (p.Thr1093Ile)
|
rs996808810
|
|
NM_000052.7(ATP7A):c.3659-1G>A
|
rs2149110457
|
|
NM_000052.7(ATP7A):c.3802-1G>A
|
rs398123135
|
|
NM_000052.7(ATP7A):c.3871G>A (p.Glu1291Lys)
|
rs999014839
|
|
NM_000052.7(ATP7A):c.3913G>A (p.Asp1305Asn)
|
rs1603391127
|
|
NM_000052.7(ATP7A):c.437del (p.Leu146fs)
|
rs2149082699
|
|
NM_000053.4(ATP7B):c.1389_1405del (p.Gly464fs)
|
rs1593775055
|
|
NM_000053.4(ATP7B):c.2304del (p.Met769fs)
|
rs137853287
|
|
NM_000053.4(ATP7B):c.2575+1G>A
|
rs766149114
|
|
NM_000053.4(ATP7B):c.2795C>A (p.Ser932Ter)
|
rs1566498495
|
|
NM_000053.4(ATP7B):c.3061-12T>A
|
rs1045194246
|
|
NM_000053.4(ATP7B):c.3341C>T (p.Ala1114Val)
|
rs2138850408
|
|
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly)
|
rs587783315
|
|
NM_000053.4(ATP7B):c.3809A>T (p.Asn1270Ile)
|
rs121907990
|
|
NM_000053.4(ATP7B):c.3887A>G (p.Asp1296Gly)
|
rs1593645393
|
|
NM_000053.4(ATP7B):c.4388A>G (p.Gln1463Arg)
|
rs202131204
|
|
NM_000054.7(AVPR2):c.191GGCGGGGCC[1] (p.64RRG[1])
|
rs782292545
|
|
NM_000054.7(AVPR2):c.382_384del (p.Tyr128del)
|
rs1557100594
|
|
NM_000054.7(AVPR2):c.744_755del (p.Arg249_Arg252del)
|
rs782681085
|
|
NM_000054.7(AVPR2):c.816G>A (p.Met272Ile)
|
rs1603282342
|
|
NM_000057.4(BLM):c.1043dup (p.Met348fs)
|
rs1567038003
|
|
NM_000057.4(BLM):c.1087+47T>C
|
rs1299860709
|
|
NM_000057.4(BLM):c.1088-35C>T
|
rs1359919212
|
|
NM_000057.4(BLM):c.1088-38C>T
|
rs758949040
|
|
NM_000057.4(BLM):c.1088-39C>T
|
rs878957002
|
|
NM_000057.4(BLM):c.1147A>G (p.Ile383Val)
|
rs1895933936
|
|
NM_000057.4(BLM):c.1197A>T (p.Glu399Asp)
|
rs1596228991
|
|
NM_000057.4(BLM):c.1216A>G (p.Ile406Val)
|
rs769498398
|
|
NM_000057.4(BLM):c.1228C>T (p.Leu410Phe)
|
rs200688933
|
|
NM_000057.4(BLM):c.1317G>T (p.Met439Ile)
|
rs1450277471
|
|
NM_000057.4(BLM):c.1469C>G (p.Pro490Arg)
|
rs878853553
|
|
NM_000057.4(BLM):c.1481C>T (p.Thr494Ile)
|
rs751600686
|
|
NM_000057.4(BLM):c.14C>T (p.Pro5Leu)
|
rs1567034056
|
|
NM_000057.4(BLM):c.1632_1635del (p.Arg545fs)
|
rs1205301894
|
|
NM_000057.4(BLM):c.1840G>A (p.Ala614Thr)
|
rs1895978868
|
|
NM_000057.4(BLM):c.1888T>C (p.Ser630Pro)
|
rs1567042153
|
|
NM_000057.4(BLM):c.1934A>G (p.Gln645Arg)
|
rs377563699
|
|
NM_000057.4(BLM):c.1972A>G (p.Ile658Val)
|
rs1567042248
|
|
NM_000057.4(BLM):c.199G>A (p.Val67Ile)
|
rs991350762
|
|
NM_000057.4(BLM):c.2005A>T (p.Arg669Ter)
|
rs1596232266
|
|
NM_000057.4(BLM):c.205G>A (p.Glu69Lys)
|
rs746195311
|
|
NM_000057.4(BLM):c.2074+56G>A
|
rs942432763
|
|
NM_000057.4(BLM):c.2141C>G (p.Ser714Cys)
|
|
|
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs)
|
rs113993962
|
|
NM_000057.4(BLM):c.2268del (p.Asp757fs)
|
rs747341586
|
|
NM_000057.4(BLM):c.2362C>G (p.Leu788Val)
|
rs149754073
|
|
NM_000057.4(BLM):c.241A>G (p.Thr81Ala)
|
rs1060500637
|
|
NM_000057.4(BLM):c.2556-8T>C
|
rs1567052156
|
|
NM_000057.4(BLM):c.2570T>C (p.Phe857Ser)
|
rs1567052169
|
|
NM_000057.4(BLM):c.2576_2577del (p.Arg859fs)
|
rs1567052178
|
|
NM_000057.4(BLM):c.2662+9A>G
|
rs2151178205
|
|
NM_000057.4(BLM):c.2663-2A>G
|
rs1567053170
|
|
NM_000057.4(BLM):c.2962C>T (p.His988Tyr)
|
rs1896886993
|
|
NM_000057.4(BLM):c.298_299del (p.Gln100fs)
|
rs745807085
|
|
NM_000057.4(BLM):c.3065A>C (p.Asn1022Thr)
|
rs1567058281
|
|
NM_000057.4(BLM):c.3163dup (p.Cys1055fs)
|
rs2151187381
|
|
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr)
|
rs367543029
|
|
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser)
|
rs367543029
|
|
NM_000057.4(BLM):c.3340C>T (p.Leu1114=)
|
rs1567060305
|
|
NM_000057.4(BLM):c.3587del (p.Ser1196fs)
|
rs367543018
|
|
NM_000057.4(BLM):c.3992G>A (p.Arg1331Lys)
|
rs1060500648
|
|
NM_000057.4(BLM):c.4148C>G (p.Ser1383Ter)
|
rs1567068960
|
|
NM_000057.4(BLM):c.4196T>C (p.Met1399Thr)
|
rs1567069030
|
|
NM_000057.4(BLM):c.532G>A (p.Val178Ile)
|
rs1191794374
|
|
NM_000057.4(BLM):c.543C>A (p.Ser181Arg)
|
rs761288442
|
|
NM_000057.4(BLM):c.615G>C (p.Lys205Asn)
|
rs28903082
|
|
NM_000057.4(BLM):c.645C>G (p.Ser215Arg)
|
rs56218710
|
|
NM_000057.4(BLM):c.813GAA[2] (p.Lys273del)
|
rs587779895
|
|
NM_000057.4(BLM):c.842A>G (p.His281Arg)
|
rs202042636
|
|
NM_000057.4(BLM):c.976G>A (p.Asp326Asn)
|
rs1013220474
|
|
NM_000059.3(BRCA2):c.-200C>G
|
rs1026273725
|
|
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs)
|
rs80359351
|
|
NM_000059.4(BRCA2):c.*838_*839del
|
rs75353978
|
|
NM_000059.4(BRCA2):c.-174T>G
|
rs1593879677
|
|
NM_000059.4(BRCA2):c.-179_-169dup
|
rs1484668823
|
|
NM_000059.4(BRCA2):c.-39-5del
|
rs276174800
|
|
NM_000059.4(BRCA2):c.10091_10092del (p.Ser3364fs)
|
rs80359257
|
|
NM_000059.4(BRCA2):c.10094_10095insGAATTATAT (p.Val3365_Ser3366insAsnTyrIle)
|
rs758307938
|
|
NM_000059.4(BRCA2):c.10131A>C (p.Glu3377Asp)
|
rs1064793835
|
|
NM_000059.4(BRCA2):c.10248dup (p.Tyr3417fs)
|
rs776212316
|
|
NM_000059.4(BRCA2):c.10250A>G (p.Tyr3417Cys)
|
rs730881600
|
|
NM_000059.4(BRCA2):c.103C>T (p.Leu35Phe)
|
rs1446479156
|
|
NM_000059.4(BRCA2):c.1045A>G (p.Lys349Glu)
|
rs2072403180
|
|
NM_000059.4(BRCA2):c.1153A>G (p.Lys385Glu)
|
rs80358411
|
|
NM_000059.4(BRCA2):c.1211A>G (p.Asn404Ser)
|
rs80358414
|
|
NM_000059.4(BRCA2):c.122C>T (p.Pro41Leu)
|
rs786201716
|
|
NM_000059.4(BRCA2):c.1247T>G (p.Ile416Ser)
|
rs80358418
|
|
NM_000059.4(BRCA2):c.1278del (p.Asp427fs)
|
rs80359274
|
|
NM_000059.4(BRCA2):c.1303_1307del (p.Arg435fs)
|
rs1593892461
|
|
NM_000059.4(BRCA2):c.1471A>G (p.Thr491Ala)
|
rs1566223650
|
|
NM_000059.4(BRCA2):c.1483G>A (p.Ala495Thr)
|
rs80358437
|
|
NM_000059.4(BRCA2):c.1495C>T (p.Gln499Ter)
|
rs1566223700
|
|
NM_000059.4(BRCA2):c.1504A>C (p.Lys502Gln)
|
rs276174809
|
|
NM_000059.4(BRCA2):c.1714G>A (p.Val572Ile)
|
rs587782713
|
|
NM_000059.4(BRCA2):c.1714G>C (p.Val572Leu)
|
rs587782713
|
|
NM_000059.4(BRCA2):c.1730C>T (p.Ala577Val)
|
rs876661280
|
|
NM_000059.4(BRCA2):c.1813del (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.1813dup (p.Ile605fs)
|
rs80359306
|
|
NM_000059.4(BRCA2):c.1909+22del
|
rs276174816
|
|
NM_000059.4(BRCA2):c.1909+22dup
|
rs276174816
|
|
NM_000059.4(BRCA2):c.1909+9_1909+10del
|
rs527732001
|
|
NM_000059.4(BRCA2):c.1910-46T>G
|
rs1593895720
|
|
NM_000059.4(BRCA2):c.1953T>G (p.Asp651Glu)
|
rs771442178
|
|
NM_000059.4(BRCA2):c.1964del (p.Pro655fs)
|
rs1555282375
|
|
NM_000059.4(BRCA2):c.2054A>T (p.Asp685Val)
|
rs1555282420
|
|
NM_000059.4(BRCA2):c.2167_2168del (p.Ser723fs)
|
rs1593896252
|
|
NM_000059.4(BRCA2):c.2167_2169delinsCT (p.Ser723fs)
|
rs1566226235
|
|
NM_000059.4(BRCA2):c.2169_2170insT (p.Lys724Ter)
|
rs1593896259
|
|
NM_000059.4(BRCA2):c.2245A>G (p.Ser749Gly)
|
rs80358495
|
|
NM_000059.4(BRCA2):c.2281T>C (p.Tyr761His)
|
rs80358499
|
|
NM_000059.4(BRCA2):c.2321C>T (p.Thr774Ile)
|
rs1239876081
|
|
NM_000059.4(BRCA2):c.2376C>G (p.Tyr792Ter)
|
rs80358503
|
|
NM_000059.4(BRCA2):c.2405A>G (p.Asn802Ser)
|
rs876661089
|
|
NM_000059.4(BRCA2):c.241T>A (p.Phe81Ile)
|
rs80358507
|
|
NM_000059.4(BRCA2):c.247G>C (p.Glu83Gln)
|
rs886040428
|
|
NM_000059.4(BRCA2):c.2512A>T (p.Lys838Ter)
|
rs747578057
|
|
NM_000059.4(BRCA2):c.2560A>G (p.Asn854Asp)
|
rs1413706911
|
|
NM_000059.4(BRCA2):c.2568T>A (p.Asn856Lys)
|
rs1166285186
|
|
NM_000059.4(BRCA2):c.2576T>C (p.Val859Ala)
|
rs1566226964
|
|
NM_000059.4(BRCA2):c.2621_2622insG (p.Val875fs)
|
rs1555282757
|
|
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His)
|
rs28897716
|
|
NM_000059.4(BRCA2):c.2827A>G (p.Ile943Val)
|
rs397507294
|
|
NM_000059.4(BRCA2):c.289G>T (p.Glu97Ter)
|
rs397507646
|
|
NM_000059.4(BRCA2):c.2958del (p.Asn986fs)
|
rs1593898209
|
|
NM_000059.4(BRCA2):c.2998A>C (p.Ile1000Leu)
|
rs1555282999
|
|
NM_000059.4(BRCA2):c.3074del (p.Lys1025fs)
|
rs2137492902
|
|
NM_000059.4(BRCA2):c.3152T>C (p.Leu1051Ser)
|
rs778281493
|
|
NM_000059.4(BRCA2):c.316+5G>A
|
rs81002840
|
|
NM_000059.4(BRCA2):c.317-97A>G
|
rs1255534605
|
|
NM_000059.4(BRCA2):c.3170A>G (p.Lys1057Arg)
|
rs80358562
|
|
NM_000059.4(BRCA2):c.3226G>A (p.Val1076Ile)
|
rs431825304
|
|
NM_000059.4(BRCA2):c.3321A>C (p.Gln1107His)
|
rs397507306
|
|
NM_000059.4(BRCA2):c.3475T>C (p.Cys1159Arg)
|
rs886037814
|
|
NM_000059.4(BRCA2):c.3641_3642insA (p.Phe1216fs)
|
rs2137498577
|
|
NM_000059.4(BRCA2):c.3744_3747del (p.Ser1248fs)
|
rs80359403
|
|
NM_000059.4(BRCA2):c.3786A>T (p.Ser1262=)
|
rs1042077901
|
|
NM_000059.4(BRCA2):c.3826G>A (p.Glu1276Lys)
|
rs878853575
|
|
NM_000059.4(BRCA2):c.383A>G (p.Asp128Gly)
|
rs80358627
|
|
NM_000059.4(BRCA2):c.3858_3860del (p.Lys1286del)
|
rs80359406
|
|
NM_000059.4(BRCA2):c.3861TAA[1] (p.Asn1288del)
|
rs276174837
|
|
NM_000059.4(BRCA2):c.3908G>A (p.Gly1303Asp)
|
rs587782645
|
|
NM_000059.4(BRCA2):c.3998_4002del (p.Asn1333fs)
|
rs2137501910
|
|
NM_000059.4(BRCA2):c.4129A>G (p.Asn1377Asp)
|
rs1593901487
|
|
NM_000059.4(BRCA2):c.4131_4132insTGAGGA (p.Thr1378Ter)
|
rs80359429
|
|
NM_000059.4(BRCA2):c.4237A>G (p.Lys1413Glu)
|
rs876661198
|
|
NM_000059.4(BRCA2):c.425G>T (p.Ser142Ile)
|
rs397507713
|
|
NM_000059.4(BRCA2):c.4265A>T (p.Glu1422Val)
|
rs1593901855
|
|
NM_000059.4(BRCA2):c.4306A>G (p.Ile1436Val)
|
rs778282885
|
|
NM_000059.4(BRCA2):c.4366G>A (p.Glu1456Lys)
|
rs876659847
|
|
NM_000059.4(BRCA2):c.4380_4381del (p.Ser1461fs)
|
rs397507715
|
|
NM_000059.4(BRCA2):c.4454T>G (p.Ile1485Arg)
|
rs1555283790
|
|
NM_000059.4(BRCA2):c.4616T>C (p.Leu1539Ser)
|
rs2072509102
|
|
NM_000059.4(BRCA2):c.4627A>G (p.Lys1543Glu)
|
rs786204239
|
|
NM_000059.4(BRCA2):c.466_467del (p.Arg155_Asp156insTer)
|
rs886040542
|
|
NM_000059.4(BRCA2):c.475+1G>A
|
rs81002797
|
|
NM_000059.4(BRCA2):c.4808A>T (p.Asn1603Ile)
|
rs890665355
|
|
NM_000059.4(BRCA2):c.489T>C (p.Ser163=)
|
rs398122787
|
|
NM_000059.4(BRCA2):c.4928T>C (p.Val1643Ala)
|
rs28897731
|
|
NM_000059.4(BRCA2):c.4963del (p.Tyr1655fs)
|
rs886040557
|
|
NM_000059.4(BRCA2):c.4965C>A (p.Tyr1655Ter)
|
rs80358721
|
|
NM_000059.4(BRCA2):c.4969A>T (p.Asn1657Tyr)
|
rs587781599
|
|
NM_000059.4(BRCA2):c.4973A>G (p.Gln1658Arg)
|
rs1593903991
|
|
NM_000059.4(BRCA2):c.5015A>G (p.Tyr1672Cys)
|
rs2072518272
|
|
NM_000059.4(BRCA2):c.501A>G (p.Thr167=)
|
rs750805758
|
|
NM_000059.4(BRCA2):c.5059_5062del (p.Leu1687fs)
|
rs1281993806
|
|
NM_000059.4(BRCA2):c.5068_5073dup (p.Lys1690_Lys1691dup)
|
rs80359479
|
|
NM_000059.4(BRCA2):c.5149del (p.Glu1717fs)
|
rs886040569
|
|
NM_000059.4(BRCA2):c.5158dup (p.Ser1720fs)
|
rs80359489
|
|
NM_000059.4(BRCA2):c.517-1G>A
|
rs81002849
|
|
NM_000059.4(BRCA2):c.5206C>G (p.Gln1736Glu)
|
rs886037802
|
|
NM_000059.4(BRCA2):c.5213_5216del (p.Thr1738fs)
|
rs80359493
|
|
NM_000059.4(BRCA2):c.5216dup (p.Tyr1739Ter)
|
rs886040578
|
|
NM_000059.4(BRCA2):c.5279del (p.Asp1759_Ser1760insTer)
|
rs2137515902
|
|
NM_000059.4(BRCA2):c.5352C>A (p.Asn1784Lys)
|
rs1555284187
|
|
NM_000059.4(BRCA2):c.5467A>G (p.Lys1823Glu)
|
rs276174858
|
|
NM_000059.4(BRCA2):c.5483A>T (p.Lys1828Ile)
|
rs879255459
|
|
NM_000059.4(BRCA2):c.5492T>C (p.Ile1831Thr)
|
rs587782007
|
|
NM_000059.4(BRCA2):c.556G>C (p.Ala186Pro)
|
rs1217007370
|
|
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs)
|
rs80359525
|
|
NM_000059.4(BRCA2):c.561G>C (p.Glu187Asp)
|
rs754678843
|
|
NM_000059.4(BRCA2):c.5636A>G (p.Glu1879Gly)
|
rs398122536
|
|
NM_000059.4(BRCA2):c.565G>T (p.Asp189Tyr)
|
rs1555281067
|
|
NM_000059.4(BRCA2):c.5674G>A (p.Gly1892Ser)
|
rs786203948
|
|
NM_000059.4(BRCA2):c.5687C>T (p.Ala1896Val)
|
rs730881539
|
|
NM_000059.4(BRCA2):c.5720_5723del (p.Asn1906_Ser1907insTer)
|
rs80359530
|
|
NM_000059.4(BRCA2):c.5729A>G (p.Asn1910Ser)
|
rs276174863
|
|
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.5791C>A (p.Gln1931Lys)
|
rs80358807
|
|
NM_000059.4(BRCA2):c.5800C>T (p.Gln1934Ter)
|
rs886040610
|
|
NM_000059.4(BRCA2):c.5818G>T (p.Glu1940Ter)
|
rs1566233278
|
|
NM_000059.4(BRCA2):c.5879GTA[1] (p.Ser1961del)
|
rs1026127409
|
|
NM_000059.4(BRCA2):c.589T>C (p.Ser197Pro)
|
rs730881505
|
|
NM_000059.4(BRCA2):c.5904_5907del (p.Val1969fs)
|
rs80359547
|
|
NM_000059.4(BRCA2):c.5912C>G (p.Ser1971Cys)
|
rs1593906913
|
|
NM_000059.4(BRCA2):c.6024dup (p.Gln2009fs)
|
rs80359554
|
|
NM_000059.4(BRCA2):c.6037A>T (p.Lys2013Ter)
|
rs80358840
|
|
NM_000059.4(BRCA2):c.6039del (p.Val2014fs)
|
rs876660637
|
|
NM_000059.4(BRCA2):c.6095C>T (p.Ala2032Val)
|
rs786202701
|
|
NM_000059.4(BRCA2):c.6125A>C (p.Gln2042Pro)
|
rs80358852
|
|
NM_000059.4(BRCA2):c.6152A>G (p.Asn2051Ser)
|
rs398122549
|
|
NM_000059.4(BRCA2):c.6210A>T (p.Glu2070Asp)
|
rs1555284596
|
|
NM_000059.4(BRCA2):c.6242A>C (p.Glu2081Ala)
|
rs1593907983
|
|
NM_000059.4(BRCA2):c.6271A>G (p.Ser2091Gly)
|
rs398122550
|
|
NM_000059.4(BRCA2):c.6272G>A (p.Ser2091Asn)
|
rs1060502389
|
|
NM_000059.4(BRCA2):c.6290_6291insTA (p.Arg2099fs)
|
rs1566234270
|
|
NM_000059.4(BRCA2):c.631G>A (p.Val211Ile)
|
rs80358871
|
|
NM_000059.4(BRCA2):c.6322C>A (p.Arg2108Ser)
|
rs55794205
|
|
NM_000059.4(BRCA2):c.6362A>G (p.Glu2121Gly)
|
rs397507846
|
|
NM_000059.4(BRCA2):c.6405_6409del (p.Asn2135fs)
|
rs80359584
|
|
NM_000059.4(BRCA2):c.641AAG[1] (p.Glu215del)
|
rs80359588
|
|
NM_000059.4(BRCA2):c.643G>A (p.Glu215Lys)
|
rs774539540
|
|
NM_000059.4(BRCA2):c.6450dup (p.Val2151fs)
|
rs80359594
|
|
NM_000059.4(BRCA2):c.6468_6469del (p.Gln2157fs)
|
rs80359596
|
|
NM_000059.4(BRCA2):c.6532C>A (p.His2178Asn)
|
rs80358885
|
|
NM_000059.4(BRCA2):c.6554C>T (p.Ala2185Val)
|
rs980859921
|
|
NM_000059.4(BRCA2):c.6583G>A (p.Gly2195Ser)
|
rs1593909184
|
|
NM_000059.4(BRCA2):c.6591_6592del (p.Glu2198fs)
|
rs80359605
|
|
NM_000059.4(BRCA2):c.6656C>G (p.Ser2219Ter)
|
rs80358893
|
|
NM_000059.4(BRCA2):c.670G>A (p.Asp224Asn)
|
rs876660484
|
|
NM_000059.4(BRCA2):c.6717del (p.Glu2239fs)
|
rs1593909597
|
|
NM_000059.4(BRCA2):c.6728C>G (p.Ser2243Cys)
|
rs876659031
|
|
NM_000059.4(BRCA2):c.68-2A>G
|
rs769152395
|
|
NM_000059.4(BRCA2):c.68-5A>T
|
rs1555280326
|
|
NM_000059.4(BRCA2):c.683del (p.Asn228fs)
|
rs1566221288
|
|
NM_000059.4(BRCA2):c.6888A>G (p.Ile2296Met)
|
rs879255335
|
|
NM_000059.4(BRCA2):c.6938-1G>A
|
rs886040936
|
|
NM_000059.4(BRCA2):c.6952C>T (p.Arg2318Ter)
|
rs80358920
|
|
NM_000059.4(BRCA2):c.6988A>G (p.Ile2330Val)
|
rs876661032
|
|
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)
|
rs28897743
|
|
NM_000059.4(BRCA2):c.7008-43T>C
|
rs1418463336
|
|
NM_000059.4(BRCA2):c.7015A>G (p.Lys2339Glu)
|
rs2072676209
|
|
NM_000059.4(BRCA2):c.7051G>C (p.Ala2351Pro)
|
rs80358930
|
|
NM_000059.4(BRCA2):c.7060C>T (p.Gln2354Ter)
|
rs80358936
|
|
NM_000059.4(BRCA2):c.7069_7070del (p.Leu2357fs)
|
rs80359636
|
|
NM_000059.4(BRCA2):c.7093C>T (p.His2365Tyr)
|
rs876659943
|
|
NM_000059.4(BRCA2):c.709G>A (p.Asp237Asn)
|
rs398122575
|
|
NM_000059.4(BRCA2):c.7127C>T (p.Ala2376Val)
|
rs1593917850
|
|
NM_000059.4(BRCA2):c.7170T>A (p.Asn2390Lys)
|
rs1555286027
|
|
NM_000059.4(BRCA2):c.7191dup (p.Thr2398fs)
|
rs886040690
|
|
NM_000059.4(BRCA2):c.71_72insTTTTTTT (p.Leu24fs)
|
rs397507903
|
|
NM_000059.4(BRCA2):c.7234A>C (p.Thr2412Pro)
|
rs876659118
|
|
NM_000059.4(BRCA2):c.7246T>G (p.Phe2416Val)
|
rs2072681002
|
|
NM_000059.4(BRCA2):c.7298A>G (p.Gln2433Arg)
|
rs1593918295
|
|
NM_000059.4(BRCA2):c.738del (p.Phe246fs)
|
rs1566221413
|
|
NM_000059.4(BRCA2):c.7420GAA[2] (p.Glu2476del)
|
rs876659222
|
|
NM_000059.4(BRCA2):c.7499G>A (p.Arg2500Lys)
|
rs80358976
|
|
NM_000059.4(BRCA2):c.7580_7583dup (p.Gly2529fs)
|
rs1555286296
|
|
NM_000059.4(BRCA2):c.7617+1G>A
|
rs397507922
|
|
NM_000059.4(BRCA2):c.7618-10T>G
|
rs864622573
|
|
NM_000059.4(BRCA2):c.7618-21G>T
|
rs376957350
|
|
NM_000059.4(BRCA2):c.7622A>G (p.Tyr2541Cys)
|
rs1566242642
|
|
NM_000059.4(BRCA2):c.7731A>T (p.Lys2577Asn)
|
rs2137567171
|
|
NM_000059.4(BRCA2):c.7738C>T (p.Gln2580Ter)
|
rs80358999
|
|
NM_000059.4(BRCA2):c.7792GAA[1] (p.Glu2599del)
|
rs80359682
|
|
NM_000059.4(BRCA2):c.7903G>A (p.Glu2635Lys)
|
rs2137577279
|
|
NM_000059.4(BRCA2):c.794-22C>T
|
rs1566222022
|
|
NM_000059.4(BRCA2):c.7964A>G (p.Gln2655Arg)
|
rs80359024
|
|
NM_000059.4(BRCA2):c.7975A>G (p.Arg2659Gly)
|
rs80359026
|
|
NM_000059.4(BRCA2):c.7977-7C>T
|
rs397507948
|
|
NM_000059.4(BRCA2):c.7985C>T (p.Thr2662Met)
|
rs431825362
|
|
NM_000059.4(BRCA2):c.7992T>G (p.Ile2664Met)
|
rs80359800
|
|
NM_000059.4(BRCA2):c.8035G>T (p.Asp2679Tyr)
|
rs80359040
|
|
NM_000059.4(BRCA2):c.8067T>A (p.Cys2689Ter)
|
rs80359046
|
|
NM_000059.4(BRCA2):c.8174G>A (p.Trp2725Ter)
|
rs730881581
|
|
NM_000059.4(BRCA2):c.8191C>G (p.Gln2731Glu)
|
rs397507966
|
|
NM_000059.4(BRCA2):c.8201del (p.Pro2734fs)
|
rs886040750
|
|
NM_000059.4(BRCA2):c.8293T>C (p.Cys2765Arg)
|
rs768247528
|
|
NM_000059.4(BRCA2):c.8309C>A (p.Ala2770Asp)
|
rs28897750
|
|
NM_000059.4(BRCA2):c.8324T>G (p.Met2775Arg)
|
rs80359073
|
|
NM_000059.4(BRCA2):c.8482A>G (p.Ile2828Val)
|
rs80359098
|
|
NM_000059.4(BRCA2):c.8487+5G>C
|
rs1566248993
|
|
NM_000059.4(BRCA2):c.8488-1G>A
|
rs397507404
|
|
NM_000059.4(BRCA2):c.8488-2A>C
|
rs773272765
|
|
NM_000059.4(BRCA2):c.8582_8584dup (p.Arg2861dup)
|
rs1593931201
|
|
NM_000059.4(BRCA2):c.8585dup (p.Glu2863fs)
|
rs80359720
|
|
NM_000059.4(BRCA2):c.8588_8590dup (p.Glu2863dup)
|
rs730881616
|
|
NM_000059.4(BRCA2):c.8632+3_8632+4insT
|
rs2137601235
|
|
NM_000059.4(BRCA2):c.8725A>T (p.Lys2909Ter)
|
rs2072875960
|
|
NM_000059.4(BRCA2):c.8744C>T (p.Ala2915Val)
|
rs1310128359
|
|
NM_000059.4(BRCA2):c.8754+9G>A
|
rs749435255
|
|
NM_000059.4(BRCA2):c.8755-1G>A
|
rs81002812
|
|
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.8755G>T (p.Gly2919Cys)
|
rs1454684155
|
|
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn)
|
rs28897754
|
|
NM_000059.4(BRCA2):c.8854A>G (p.Met2952Val)
|
rs397508016
|
|
NM_000059.4(BRCA2):c.8869C>A (p.Gln2957Lys)
|
rs276174913
|
|
NM_000059.4(BRCA2):c.8878C>T (p.Gln2960Ter)
|
rs80359140
|
|
NM_000059.4(BRCA2):c.8933C>A (p.Ser2978Ter)
|
rs80359144
|
|
NM_000059.4(BRCA2):c.8948A>T (p.Asp2983Val)
|
rs2137620740
|
|
NM_000059.4(BRCA2):c.8953+2T>C
|
rs886040947
|
|
NM_000059.4(BRCA2):c.9004G>A (p.Glu3002Lys)
|
rs80359152
|
|
NM_000059.4(BRCA2):c.9011A>G (p.Lys3004Arg)
|
rs587782779
|
|
NM_000059.4(BRCA2):c.9041C>G (p.Ser3014Ter)
|
rs80359156
|
|
NM_000059.4(BRCA2):c.9043A>G (p.Lys3015Glu)
|
rs587781497
|
|
NM_000059.4(BRCA2):c.9097del (p.Thr3033fs)
|
rs397507419
|
|
NM_000059.4(BRCA2):c.9097dup (p.Thr3033fs)
|
rs397507419
|
|
NM_000059.4(BRCA2):c.9109C>A (p.Gln3037Lys)
|
rs397508037
|
|
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu)
|
rs80359167
|
|
NM_000059.4(BRCA2):c.9195T>A (p.Phe3065Leu)
|
rs80359179
|
|
NM_000059.4(BRCA2):c.9209dup (p.Ser3070_Glu3071insTer)
|
rs1593938133
|
|
NM_000059.4(BRCA2):c.9257-8C>T
|
rs11571819
|
|
NM_000059.4(BRCA2):c.9265C>T (p.Pro3089Ser)
|
rs1593199583
|
|
NM_000059.4(BRCA2):c.9311A>G (p.Lys3104Arg)
|
rs956554593
|
|
NM_000059.4(BRCA2):c.931del (p.Cys311fs)
|
rs2137466012
|
|
NM_000059.4(BRCA2):c.9337A>G (p.Ile3113Val)
|
rs1566258935
|
|
NM_000059.4(BRCA2):c.9374T>A (p.Leu3125His)
|
rs80359209
|
|
NM_000059.4(BRCA2):c.9375C>G (p.Leu3125=)
|
rs276174924
|
|
NM_000059.4(BRCA2):c.9375C>T (p.Leu3125=)
|
rs276174924
|
|
NM_000059.4(BRCA2):c.93G>A (p.Trp31Ter)
|
rs80359214
|
|
NM_000059.4(BRCA2):c.94T>C (p.Phe32Leu)
|
rs397508057
|
|
NM_000059.4(BRCA2):c.9501+44T>G
|
rs887669613
|
|
NM_000059.4(BRCA2):c.9510C>G (p.Asp3170Glu)
|
rs876661072
|
|
NM_000059.4(BRCA2):c.9521A>G (p.Asn3174Ser)
|
rs1555289773
|
|
NM_000059.4(BRCA2):c.956A>C (p.Asn319Thr)
|
rs55939572
|
|
NM_000059.4(BRCA2):c.967G>A (p.Val323Ile)
|
rs1566222487
|
|
NM_000059.4(BRCA2):c.9700A>G (p.Met3234Val)
|
rs730881574
|
|
NM_000059.4(BRCA2):c.9945del (p.Glu3316fs)
|
rs431825381
|
|
NM_000061.3(BTK):c.1763G>A (p.Trp588Ter)
|
rs1603001805
|
|
NM_000061.3(BTK):c.1784dup (p.Met596fs)
|
rs1603001771
|
|
NM_000061.3(BTK):c.36G>T (p.Lys12Asn)
|
rs782519139
|
|
NM_000061.3(BTK):c.684G>A (p.Met228Ile)
|
rs1926635223
|
|
NM_000061.3(BTK):c.721dup (p.Tyr241fs)
|
rs1603008381
|
|
NM_000061.3(BTK):c.763C>T (p.Arg255Ter)
|
rs128621193
|
|
NM_000063.6(C2):c.841_849+19del
|
rs9332736
|
|
NM_000064.4(C3):c.4892G>A (p.Trp1631Ter)
|
rs2145388177
|
|
NM_000064.4(C3):c.640C>T (p.Pro214Ser)
|
rs794729228
|
|
NM_000069.3(CACNA1S):c.1734G>A (p.Met578Ile)
|
rs1572049461
|
|
NM_000069.3(CACNA1S):c.3071T>C (p.Ile1024Thr)
|
rs978624647
|
|
NM_000070.3(CAPN3):c.2116-19C>G
|
rs2141223489
|
|
NM_000070.3(CAPN3):c.328C>T (p.Arg110Ter)
|
rs121434545
|
|
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
|
|
|
NM_000071.3(CBS):c.1358G>A (p.Gly453Glu)
|
rs886039146
|
|
NM_000075.4(CDK4):c.132_143del (p.Gly45_Gly48del)
|
rs749094206
|
|
NM_000075.4(CDK4):c.133G>C (p.Gly45Arg)
|
rs876660318
|
|
NM_000075.4(CDK4):c.155G>T (p.Ser52Ile)
|
rs760719270
|
|
NM_000075.4(CDK4):c.19G>A (p.Glu7Lys)
|
rs1000052939
|
|
NM_000075.4(CDK4):c.523-20A>T
|
rs1595110299
|
|
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[1] (p.Ala4_Pro11del)
|
rs587780668
|
|
NM_000077.5(CDKN2A):c.148C>A (p.Gln50Lys)
|
rs864622636
|
|
NM_000077.5(CDKN2A):c.150+11G>A
|
rs1587339427
|
|
NM_000077.5(CDKN2A):c.150+137T>G
|
rs1587338978
|
|
NM_000077.5(CDKN2A):c.150+82A>G
|
rs1231900408
|
|
NM_000077.5(CDKN2A):c.170C>A (p.Ala57Asp)
|
rs372266620
|
|
NM_000077.5(CDKN2A):c.170C>T (p.Ala57Val)
|
rs372266620
|
|
NM_000077.5(CDKN2A):c.220G>C (p.Asp74His)
|
rs760640852
|
|
NM_000077.5(CDKN2A):c.221A>C (p.Asp74Ala)
|
rs200429615
|
|
NM_000077.5(CDKN2A):c.250G>A (p.Asp84Asn)
|
rs11552822
|
|
NM_000077.5(CDKN2A):c.26T>C (p.Met9Thr)
|
rs145445140
|
|
NM_000077.5(CDKN2A):c.294C>T (p.His98=)
|
rs752685118
|
|
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp)
|
rs104894094
|
|
NM_000077.5(CDKN2A):c.369T>A (p.His123Gln)
|
rs6413463
|
|
NM_000077.5(CDKN2A):c.369T>C (p.His123=)
|
rs6413463
|
|
NM_000077.5(CDKN2A):c.404G>C (p.Gly135Ala)
|
rs1182554152
|
|
NM_000080.4(CHRNE):c.252A>G (p.Arg84=)
|
rs2151098586
|
|
NM_000080.4(CHRNE):c.793C>T (p.Pro265Ser)
|
rs2151097209
|
|
NM_000080.4(CHRNE):c.854T>C (p.Val285Ala)
|
rs1597618787
|
|
NM_000081.4(LYST):c.3025C>A (p.Gln1009Lys)
|
|
|
NM_000081.4(LYST):c.7229+50CTTTT[7]
|
rs71174459
|
|
NM_000083.3(CLCN1):c.2508+5G>A
|
rs1401007697
|
|
NM_000085.5(CLCNKB):c.1400C>T (p.Ala467Val)
|
rs1570340095
|
|
NM_000085.5(CLCNKB):c.1560T>G (p.Tyr520Ter)
|
rs1570341086
|
|
NM_000085.5(CLCNKB):c.18dup (p.Leu7fs)
|
rs953686324
|
|
NM_000085.5(CLCNKB):c.673G>T (p.Glu225Ter)
|
rs1570334344
|
|
NM_000088.4(COL1A1):c.1192G>C (p.Gly398Arg)
|
rs72648319
|
|
NM_000088.4(COL1A1):c.1733G>A (p.Gly578Asp)
|
rs2144569208
|
|
NM_000088.4(COL1A1):c.1821+1G>A
|
rs66555264
|
|
NM_000088.4(COL1A1):c.2452-1G>C
|
rs72651667
|
|
NM_000088.4(COL1A1):c.2633G>C (p.Gly878Ala)
|
rs2144551547
|
|
NM_000088.4(COL1A1):c.2915del (p.Phe972fs)
|
rs1598288967
|
|
NM_000088.4(COL1A1):c.2990del (p.Pro997fs)
|
rs1598288648
|
|
NM_000088.4(COL1A1):c.358C>T (p.Arg120Ter)
|
rs762979302
|
|
NM_000088.4(COL1A1):c.432dup (p.Gly145fs)
|
rs72667016
|
|
NM_000088.4(COL1A1):c.608G>A (p.Gly203Asp)
|
rs72667031
|
|
NM_000088.4(COL1A1):c.608G>T (p.Gly203Val)
|
rs72667031
|
|
NM_000088.4(COL1A1):c.725G>T (p.Gly242Val)
|
rs72645315
|
|
NM_000088.4(COL1A1):c.814G>T (p.Gly272Cys)
|
rs72645331
|
|
NM_000088.4(COL1A1):c.884A>G (p.Asn295Ser)
|
rs1161629582
|
|
NM_000088.4(COL1A1):c.887G>T (p.Gly296Val)
|
rs1567761800
|
|
NM_000088.4(COL1A1):c.938del (p.Pro313fs)
|
rs1598298292
|
|
NM_000088.4(COL1A1):c.958-1G>C
|
rs72645352
|
|
NM_000089.4(COL1A2):c.1009G>A (p.Gly337Ser)
|
rs67865220
|
|
NM_000089.4(COL1A2):c.1207G>C (p.Gly403Arg)
|
rs2115898280
|
|
NM_000089.4(COL1A2):c.139C>A (p.Pro47Thr)
|
rs771800420
|
|
NM_000089.4(COL1A2):c.1900G>A (p.Gly634Ser)
|
rs2115921523
|
|
NM_000089.4(COL1A2):c.1972-1G>T
|
rs2115924241
|
|
NM_000089.4(COL1A2):c.2035G>A (p.Gly679Ser)
|
rs1584325552
|
|
NM_000089.4(COL1A2):c.2305G>T (p.Gly769Cys)
|
rs1792147522
|
|
NM_000089.4(COL1A2):c.2810G>A (p.Gly937Asp)
|
rs1584329740
|
|
NM_000089.4(COL1A2):c.2943+1_2943+2del
|
rs1554398361
|
|
NM_000089.4(COL1A2):c.776G>T (p.Gly259Val)
|
rs1584318648
|
|
NM_000089.4(COL1A2):c.809_820del (p.Val270_Ala273del)
|
rs1584318956
|
|
NM_000089.4(COL1A2):c.857_875del (p.Gly286fs)
|
rs1584319045
|
|
NM_000090.4(COL3A1):c.119C>T (p.Ala40Val)
|
rs201380807
|
|
NM_000090.4(COL3A1):c.1462C>T (p.Pro488Ser)
|
rs2153502474
|
|
NM_000090.4(COL3A1):c.1663-94_1663-93insCACACACA
|
rs200204993
|
|
NM_000091.5(COL4A3):c.3337+1G>A
|
rs1430568143
|
|
NM_000091.5(COL4A3):c.365T>C (p.Val122Ala)
|
rs766935732
|
|
NM_000091.5(COL4A3):c.716G>A (p.Gly239Glu)
|
rs1574699782
|
|
NM_000092.5(COL4A4):c.4760C>G (p.Pro1587Arg)
|
rs190148408
|
|
NM_000093.5(COL5A1):c.1432G>T (p.Gly478Cys)
|
rs1835194794
|
|
NM_000093.5(COL5A1):c.2953-1G>A
|
rs866122374
|
|
NM_000093.5(COL5A1):c.3054del (p.Pro1020fs)
|
rs2132822152
|
|
NM_000093.5(COL5A1):c.3752dup (p.Pro1253fs)
|
rs786205100
|
|
NM_000094.4(COL7A1):c.1758del (p.Ser587fs)
|
rs2045631974
|
|
NM_000094.4(COL7A1):c.2314+2T>G
|
rs2107771861
|
|
NM_000094.4(COL7A1):c.2722C>T (p.Gln908Ter)
|
rs2045393987
|
|
NM_000094.4(COL7A1):c.325_326insCG (p.Glu109fs)
|
rs1235811820
|
|
NM_000094.4(COL7A1):c.3894+1G>A
|
rs2107741719
|
|
NM_000094.4(COL7A1):c.4635+1G>A
|
rs774890570
|
|
NM_000094.4(COL7A1):c.4965C>T (p.Gly1655=)
|
rs1560232515
|
|
NM_000094.4(COL7A1):c.5413C>T (p.Pro1805Ser)
|
rs2107694745
|
|
NM_000094.4(COL7A1):c.5425-1G>A
|
rs112850769
|
|
NM_000094.4(COL7A1):c.6023G>A (p.Arg2008His)
|
rs1002845719
|
|
NM_000094.4(COL7A1):c.6035G>T (p.Gly2012Val)
|
rs2107674937
|
|
NM_000094.4(COL7A1):c.6187C>G (p.Arg2063Gly)
|
rs121912849
|
|
NM_000094.4(COL7A1):c.6502-1G>A
|
rs2107665131
|
|
NM_000094.4(COL7A1):c.657del (p.Gly220fs)
|
rs1575494051
|
|
NM_000094.4(COL7A1):c.6638G>A (p.Gly2213Glu)
|
rs2107662258
|
|
NM_000094.4(COL7A1):c.6652-3del
|
rs1181199317
|
|
NM_000094.4(COL7A1):c.6751-2_6751-1del
|
rs760460054
|
|
NM_000094.4(COL7A1):c.6826G>A (p.Val2276Met)
|
rs2107659437
|
|
NM_000094.4(COL7A1):c.7017C>T (p.Gly2339=)
|
rs1362309822
|
|
NM_000094.4(COL7A1):c.7759G>A (p.Gly2587Ser)
|
rs977778252
|
|
NM_000094.4(COL7A1):c.8109+1G>T
|
rs1050797523
|
|
NM_000095.3(COMP):c.1315G>T (p.Asp439Tyr)
|
rs1601054002
|
|
NM_000095.3(COMP):c.1403G>A (p.Cys468Tyr)
|
rs137852651
|
|
NM_000095.3(COMP):c.1405GAC[6] (p.Asp473dup)
|
rs193922900
|
|
NM_000095.3(COMP):c.1552G>C (p.Asp518His)
|
rs1359984033
|
|
NM_000095.3(COMP):c.818A>T (p.Asp273Val)
|
rs1601057491
|
|
NM_000095.3(COMP):c.949G>T (p.Asp317Tyr)
|
rs2145903160
|
|
NM_000095.3(COMP):c.950A>T (p.Asp317Val)
|
rs1601057057
|
|
NM_000096.4(CP):c.2756T>C (p.Leu919Pro)
|
rs1135401784
|
|
NM_000097.7(CPOX):c.478C>T (p.Gln160Ter)
|
rs1576306536
|
|
NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser)
|
rs28936673
|
|
NM_000111.3(SLC26A3):c.2024_2026dup (p.Ile675dup)
|
rs121913031
|
|
NM_000113.3(TOR1A):c.461G>A (p.Trp154Ter)
|
rs2131004790
|
|
NM_000113.3(TOR1A):c.958A>G (p.Lys320Glu)
|
rs2131001171
|
|
NM_000117.3(EMD):c.12C>A (p.Tyr4Ter)
|
rs782011714
|
|
NM_000122.2(ERCC3):c.1828-32A>T
|
rs773954881
|
|
NM_000122.2(ERCC3):c.460C>T (p.Gln154Ter)
|
rs1404293670
|
|
NM_000123.4(ERCC5):c.1787C>G (p.Ala596Gly)
|
rs1595383704
|
|
NM_000123.4(ERCC5):c.3238G>T (p.Gly1080Ter)
|
rs9514067
|
|
NM_000123.4(ERCC5):c.840_841dup (p.Val281fs)
|
rs1595382501
|
|
NM_000124.4(ERCC6):c.1868_1869dup (p.Ser624fs)
|
rs1307714476
|
|
NM_000124.4(ERCC6):c.3284C>G (p.Pro1095Arg)
|
rs4253208
|
|
NM_000124.4(ERCC6):c.3445G>T (p.Glu1149Ter)
|
rs1250248245
|
|
NM_000127.3(EXT1):c.2143A>G (p.Met715Val)
|
rs1225915837
|
|
NM_000127.3(EXT1):c.962+3_962+6del
|
rs1586279285
|
|
NM_000132.4(F8):c.1264G>C (p.Asp422His)
|
rs370737113
|
|
NM_000132.4(F8):c.1336C>T (p.Arg446Ter)
|
rs137852372
|
|
NM_000132.4(F8):c.1468A>G (p.Arg490Gly)
|
rs1603435026
|
|
NM_000132.4(F8):c.1752+5G>T
|
rs2124094299
|
|
NM_000132.4(F8):c.2113+461_2113+473del
|
rs781928603
|
|
NM_000132.4(F8):c.323A>C (p.Lys108Thr)
|
rs137852384
|
|
NM_000132.4(F8):c.4379del (p.Asn1460fs)
|
rs387906455
|
|
NM_000132.4(F8):c.43C>T (p.Arg15Ter)
|
rs387906432
|
|
NM_000132.4(F8):c.4936del (p.Ala1646fs)
|
rs1603433729
|
|
NM_000132.4(F8):c.5703C>A (p.Ile1901=)
|
rs782721473
|
|
NM_000132.4(F8):c.605G>A (p.Ser202Asn)
|
rs1603436218
|
|
NM_000132.4(F8):c.6301C>G (p.His2101Asp)
|
rs1603432783
|
|
NM_000135.4(FANCA):c.1942G>A (p.Glu648Lys)
|
rs1427276212
|
|
NM_000135.4(FANCA):c.2222+6G>A
|
rs2143339557
|
|
NM_000135.4(FANCA):c.236_239del (p.Asp79fs)
|
rs1336033143
|
|
NM_000135.4(FANCA):c.275C>G (p.Ser92Ter)
|
rs1183559927
|
|
NM_000135.4(FANCA):c.2827G>C (p.Ala943Pro)
|
rs2143260822
|
|
NM_000135.4(FANCA):c.4167G>T (p.Gln1389His)
|
rs1598051449
|
|
NM_000135.4(FANCA):c.4199G>C (p.Arg1400Pro)
|
rs149851163
|
|
NM_000135.4(FANCA):c.542C>A (p.Ala181Glu)
|
rs17232246
|
|
NM_000135.4(FANCA):c.710-142_710-141dup
|
rs17232344
|
|
NM_000136.3(FANCC):c.-79+98A>G
|
rs1408056644
|
|
NM_000136.3(FANCC):c.1065C>A (p.Asp355Glu)
|
rs1588070592
|
|
NM_000136.3(FANCC):c.1257del (p.Thr420fs)
|
rs765551897
|
|
NM_000136.3(FANCC):c.1257dup (p.Thr420fs)
|
rs765551897
|
|
NM_000136.3(FANCC):c.1329+10A>G
|
rs977427150
|
|
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter)
|
rs1035139114
|
|
NM_000136.3(FANCC):c.140A>C (p.Lys47Thr)
|
rs1588353368
|
|
NM_000136.3(FANCC):c.1495C>T (p.Pro499Ser)
|
rs1564641164
|
|
NM_000136.3(FANCC):c.1625G>A (p.Arg542Lys)
|
rs1588008066
|
|
NM_000136.3(FANCC):c.165+11G>C
|
rs1588353233
|
|
NM_000136.3(FANCC):c.1653dup (p.Lys552Ter)
|
rs2134382250
|
|
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter)
|
rs370974124
|
|
NM_000136.3(FANCC):c.17T>C (p.Val6Ala)
|
rs527289778
|
|
NM_000136.3(FANCC):c.202G>A (p.Gly68Ser)
|
rs777111154
|
|
NM_000136.3(FANCC):c.259C>T (p.Gln87Ter)
|
rs2136049646
|
|
NM_000136.3(FANCC):c.338G>A (p.Trp113Ter)
|
rs1064793405
|
|
NM_000136.3(FANCC):c.345+4AG[2]
|
rs755657969
|
|
NM_000136.3(FANCC):c.413T>G (p.Leu138Arg)
|
rs1564720454
|
|
NM_000136.3(FANCC):c.519del (p.Arg173fs)
|
rs1564719070
|
|
NM_000136.3(FANCC):c.687-5G>T
|
rs767811745
|
|
NM_000136.3(FANCC):c.816C>G (p.Ile272Met)
|
rs55719336
|
|
NM_000136.3(FANCC):c.844-10_844-8del
|
rs758617953
|
|
NM_000137.4(FAH):c.1003_1004del (p.Val335fs)
|
rs1595897345
|
|
NM_000137.4(FAH):c.155G>T (p.Gly52Val)
|
rs780944655
|
|
NM_000137.4(FAH):c.61G>T (p.Val21Phe)
|
rs2041065908
|
|
NM_000137.4(FAH):c.745C>T (p.Pro249Ser)
|
rs1595894742
|
|
NM_000138.5(FBN1):c.1130G>A (p.Cys377Tyr)
|
rs1597583989
|
|
NM_000138.5(FBN1):c.1679G>T (p.Gly560Val)
|
rs1555400052
|
|
NM_000138.5(FBN1):c.1709G>A (p.Cys570Tyr)
|
rs1555400049
|
|
NM_000138.5(FBN1):c.170A>G (p.Asn57Ser)
|
rs2044669666
|
|
NM_000138.5(FBN1):c.1754G>A (p.Gly585Glu)
|
rs1060501041
|
|
NM_000138.5(FBN1):c.1759T>C (p.Cys587Arg)
|
rs1555399968
|
|
NM_000138.5(FBN1):c.189T>G (p.Tyr63Ter)
|
rs1597633183
|
|
NM_000138.5(FBN1):c.1960+1G>C
|
rs1555399804
|
|
NM_000138.5(FBN1):c.2130dup (p.Cys711fs)
|
rs1597571391
|
|
NM_000138.5(FBN1):c.3217G>T (p.Glu1073Ter)
|
rs137854478
|
|
NM_000138.5(FBN1):c.3375dup (p.Gly1126fs)
|
rs1597563287
|
|
NM_000138.5(FBN1):c.3545G>A (p.Cys1182Tyr)
|
rs1597562812
|
|
NM_000138.5(FBN1):c.4022A>G (p.Asn1341Ser)
|
rs140638
|
|
NM_000138.5(FBN1):c.4027G>A (p.Ala1343Thr)
|
rs2043404775
|
|
NM_000138.5(FBN1):c.4048T>C (p.Cys1350Arg)
|
rs397515799
|
|
NM_000138.5(FBN1):c.4048T>G (p.Cys1350Gly)
|
rs397515799
|
|
NM_000138.5(FBN1):c.4583-8G>C
|
rs910464222
|
|
NM_000138.5(FBN1):c.4684T>C (p.Cys1562Arg)
|
rs193922207
|
|
NM_000138.5(FBN1):c.4687T>A (p.Cys1563Ser)
|
rs1597548672
|
|
NM_000138.5(FBN1):c.496T>C (p.Cys166Arg)
|
rs363852
|
|
NM_000138.5(FBN1):c.4988G>C (p.Cys1663Ser)
|
rs1555396853
|
|
NM_000138.5(FBN1):c.5083T>G (p.Cys1695Gly)
|
rs1597545345
|
|
NM_000138.5(FBN1):c.5125G>T (p.Glu1709Ter)
|
rs1597545257
|
|
NM_000138.5(FBN1):c.5244_5247dup (p.Ser1750fs)
|
rs1597543486
|
|
NM_000138.5(FBN1):c.5345G>A (p.Cys1782Tyr)
|
rs1555396429
|
|
NM_000138.5(FBN1):c.5431G>T (p.Glu1811Ter)
|
rs761857514
|
|
NM_000138.5(FBN1):c.5675_5676del (p.Ile1892fs)
|
rs1597533713
|
|
NM_000138.5(FBN1):c.6079G>T (p.Gly2027Cys)
|
rs1566897404
|
|
NM_000138.5(FBN1):c.6149del (p.Gly2050fs)
|
rs1597529686
|
|
NM_000138.5(FBN1):c.6478G>A (p.Ala2160Thr)
|
rs2043077484
|
|
NM_000138.5(FBN1):c.6508T>C (p.Cys2170Arg)
|
rs1597523873
|
|
NM_000138.5(FBN1):c.6610T>C (p.Cys2204Arg)
|
rs1555395001
|
|
NM_000138.5(FBN1):c.6629G>A (p.Cys2210Tyr)
|
rs2141235242
|
|
NM_000138.5(FBN1):c.719G>A (p.Arg240His)
|
rs768744583
|
|
NM_000138.5(FBN1):c.7249del (p.Glu2417fs)
|
rs2141226991
|
|
NM_000138.5(FBN1):c.7499G>A (p.Cys2500Tyr)
|
rs794728160
|
|
NM_000138.5(FBN1):c.7623C>G (p.Cys2541Trp)
|
rs2141221899
|
|
NM_000138.5(FBN1):c.7820-1G>C
|
rs1597509836
|
|
NM_000138.5(FBN1):c.7830A>T (p.Glu2610Asp)
|
rs1597509823
|
|
NM_000138.5(FBN1):c.8163_8202dup (p.Glu2735fs)
|
rs2141211556
|
|
NM_000138.5(FBN1):c.8596dup (p.Ile2866fs)
|
rs1597506547
|
|
NM_000140.5(FECH):c.163G>T (p.Gly55Cys)
|
rs3848519
|
|
NM_000140.5(FECH):c.365del (p.Gln122fs)
|
rs1599003455
|
|
NM_000140.5(FECH):c.598+1G>T
|
rs1598996309
|
|
NM_000141.5(FGFR2):c.1007A>G (p.Asp336Gly)
|
rs1057519042
|
|
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=)
|
rs121918491
|
|
NM_000141.5(FGFR2):c.1061C>T (p.Ser354Phe)
|
rs121918490
|
|
NM_000141.5(FGFR2):c.1847A>G (p.Tyr616Cys)
|
rs762545440
|
|
NM_000141.5(FGFR2):c.940-2A>C
|
rs1057519041
|
|
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)
|
rs28931614
|
|
NM_000142.5(FGFR3):c.1138G>C (p.Gly380Arg)
|
rs28931614
|
|
NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln)
|
rs78311289
|
|
NM_000142.5(FGFR3):c.251C>T (p.Ser84Leu)
|
rs121913116
|
|
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)
|
rs121913482
|
|
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)
|
rs4647924
|
|
NM_000143.4(FH):c.1237-50TC[20]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[21]
|
rs144131869
|
|
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)
|
rs367543046
|
|
NM_000146.4(FTL):c.311A>G (p.Glu104Gly)
|
rs2038454487
|
|
NM_000151.4(G6PC1):c.511del (p.Ile171fs)
|
rs1597990895
|
|
NM_000151.4(G6PC1):c.526C>T (p.His176Tyr)
|
rs1597990906
|
|
NM_000151.4(G6PC1):c.563-3C>G
|
rs1597991608
|
|
NM_000151.4(G6PC1):c.70C>T (p.Gln24Ter)
|
rs2151929089
|
|
NM_000151.4(G6PC1):c.770C>A (p.Pro257His)
|
rs1597991733
|
|
NM_000152.5(GAA):c.1106T>C (p.Leu369Pro)
|
rs2039149745
|
|
NM_000152.5(GAA):c.2740dup (p.Gln914fs)
|
rs745427943
|
|
NM_000153.4(GALC):c.1433del (p.Pro478fs)
|
rs2139956468
|
|
NM_000153.4(GALC):c.1690T>G (p.Cys564Gly)
|
rs1595190129
|
|
NM_000153.4(GALC):c.1753G>T (p.Gly585Cys)
|
|
|
NM_000153.4(GALC):c.1754G>A (p.Gly585Asp)
|
rs776098499
|
|
NM_000153.4(GALC):c.65_74del (p.Gly22fs)
|
rs1595246385
|
|
NM_000153.4(GALC):c.884A>T (p.Asn295Ile)
|
rs746922378
|
|
NM_000153.4(GALC):c.896G>A (p.Gly299Asp)
|
rs1566993126
|
|
NM_000154.2(GALK1):c.410G>A (p.Gly137Asp)
|
rs915070690
|
|
NM_000155.2(GALT):c.-119_-116delGTCA
|
rs111033640
|
|
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn)
|
rs111033836
|
|
NM_000155.4(GALT):c.1060-84_1060-71dup
|
rs56121779
|
|
NM_000155.4(GALT):c.134C>A (p.Ser45Ter)
|
rs111033652
|
|
NM_000155.4(GALT):c.142C>A (p.Arg48Ser)
|
rs886042088
|
|
NM_000155.4(GALT):c.2T>C (p.Met1Thr)
|
rs771702963
|
|
NM_000155.4(GALT):c.776G>A (p.Arg259Gln)
|
rs886042070
|
|
NM_000155.4(GALT):c.820+13A>G
|
rs111033768
|
|
NM_000155.4(GALT):c.856_864del (p.Tyr286_Asn288del)
|
rs1587240095
|
|
NM_000155.4(GALT):c.895G>A (p.Gly299Ser)
|
rs1587240180
|
|
NM_000156.6(GAMT):c.316C>T (p.Gln106Ter)
|
rs1369786965
|
|
NM_000156.6(GAMT):c.392-1G>A
|
rs1600158650
|
|
NM_000156.6(GAMT):c.521G>A (p.Trp174Ter)
|
rs200444143
|
|
NM_000157.4(GBA1):c.1388G>C (p.Ser463Thr)
|
rs1571965884
|
|
NM_000158.4(GBE1):c.770T>C (p.Phe257Ser)
|
rs1576183537
|
|
NM_000159.4(GCDH):c.1142T>C (p.Ile381Thr)
|
rs772654647
|
|
NM_000159.4(GCDH):c.1222G>A (p.Glu408Lys)
|
rs1599619180
|
|
NM_000159.4(GCDH):c.424A>C (p.Ser142Arg)
|
rs2145944277
|
|
NM_000159.4(GCDH):c.671T>G (p.Val224Gly)
|
rs1970675584
|
|
NM_000159.4(GCDH):c.91+5G>A
|
rs952356983
|
|
NM_000161.3(GCH1):c.218C>T (p.Ala73Val)
|
rs2140127256
|
|
NM_000161.3(GCH1):c.26_27insTCT (p.Pro9_Ala10insLeu)
|
rs1595031768
|
|
NM_000161.3(GCH1):c.305T>C (p.Met102Thr)
|
rs2140127042
|
|
NM_000161.3(GCH1):c.510-1G>T
|
rs1555358604
|
|
NM_000161.3(GCH1):c.601G>T (p.Gly201Ter)
|
rs2140041673
|
|
NM_000161.3(GCH1):c.646C>T (p.Arg216Ter)
|
rs41298440
|
|
NM_000162.5(GCK):c.1017G>C (p.Glu339Asp)
|
rs954171452
|
|
NM_000162.5(GCK):c.1031_1034dup (p.Lys346fs)
|
rs1583592247
|
|
NM_000162.5(GCK):c.183C>A (p.Tyr61Ter)
|
rs780612692
|
|
NM_000162.5(GCK):c.501G>C (p.Trp167Cys)
|
rs1470521850
|
|
NM_000162.5(GCK):c.737G>A (p.Gly246Glu)
|
rs1583596522
|
|
NM_000162.5(GCK):c.917T>A (p.Leu306Gln)
|
rs193922337
|
|
NM_000163.5(GHR):c.484G>A (p.Val162Ile)
|
rs6413484
|
|
NM_000165.5(GJA1):c.565del (p.Arg189fs)
|
rs1582558420
|
|
NM_000166.6(GJB1):c.124A>T (p.Ser42Cys)
|
rs1602348801
|
|
NM_000166.6(GJB1):c.281A>G (p.His94Arg)
|
rs1602349095
|
|
NM_000166.6(GJB1):c.392T>C (p.Leu131Pro)
|
rs1555937166
|
|
NM_000166.6(GJB1):c.394_395del (p.Trp132fs)
|
rs1555937168
|
|
NM_000166.6(GJB1):c.395G>A (p.Trp132Ter)
|
rs2147946047
|
|
NM_000166.6(GJB1):c.468_469del (p.Tyr157fs)
|
rs1602349420
|
|
NM_000166.6(GJB1):c.494T>A (p.Leu165Gln)
|
rs1602349468
|
|
NM_000166.6(GJB1):c.538T>C (p.Phe180Leu)
|
rs1602349603
|
|
NM_000166.6(GJB1):c.548G>A (p.Arg183His)
|
rs1555937233
|
|
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys)
|
rs116840821
|
|
NM_000166.6(GJB1):c.559A>G (p.Lys187Glu)
|
rs1555937244
|
|
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)
|
rs1060501002
|
|
NM_000168.6(GLI3):c.1999C>T (p.Arg667Ter)
|
rs781422192
|
|
NM_000168.6(GLI3):c.367+49TG[20]
|
rs34148485
|
|
NM_000168.6(GLI3):c.4076G>A (p.Gly1359Glu)
|
rs1583728402
|
|
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser)
|
rs727504348
|
|
NM_000169.3(GLA):c.2T>A (p.Met1Lys)
|
rs1555987232
|
|
NM_000169.3(GLA):c.326A>G (p.Asp109Gly)
|
rs1064794205
|
|
NM_000169.3(GLA):c.476T>C (p.Phe159Ser)
|
rs1555985814
|
|
NM_000169.3(GLA):c.782del (p.Gly261fs)
|
rs869312400
|
|
NM_000170.3(GLDC):c.2316-6dup
|
rs3215923
|
|
NM_000170.3(GLDC):c.2639A>T (p.Asp880Val)
|
rs386833566
|
|
NM_000170.3(GLDC):c.2838+1G>A
|
rs542056100
|
|
NM_000170.3(GLDC):c.635+1G>A
|
rs1368757896
|
|
NM_000170.3(GLDC):c.706C>T (p.Arg236Ter)
|
rs386833585
|
|
NM_000173.7(GP1BA):c.1274_1275del (p.Glu425fs)
|
rs773663190
|
|
NM_000173.7(GP1BA):c.1282_1359del (p.415_427SEPAPSPTTPEPT[1])
|
rs869060239
|
|
NM_000179.3(MSH6):c.-46T>G
|
rs748339592
|
|
NM_000179.3(MSH6):c.1120A>G (p.Lys374Glu)
|
rs1558660575
|
|
NM_000179.3(MSH6):c.1185_1186del (p.Tyr397fs)
|
rs1572722039
|
|
NM_000179.3(MSH6):c.1321C>G (p.Leu441Val)
|
rs1553412749
|
|
NM_000179.3(MSH6):c.1390A>G (p.Ile464Val)
|
rs201892477
|
|
NM_000179.3(MSH6):c.1406A>G (p.Tyr469Cys)
|
rs748165218
|
|
NM_000179.3(MSH6):c.1420G>C (p.Val474Leu)
|
rs1558661621
|
|
NM_000179.3(MSH6):c.1508C>T (p.Ser503Phe)
|
rs63750897
|
|
NM_000179.3(MSH6):c.1634_1635del (p.Lys545fs)
|
rs267608064
|
|
NM_000179.3(MSH6):c.1651G>A (p.Gly551Ser)
|
rs1558662449
|
|
NM_000179.3(MSH6):c.173G>C (p.Arg58Thr)
|
rs1064795187
|
|
NM_000179.3(MSH6):c.175C>A (p.Pro59Thr)
|
rs761033647
|
|
NM_000179.3(MSH6):c.1806_1809del (p.Glu604fs)
|
rs63750735
|
|
NM_000179.3(MSH6):c.181G>C (p.Ala61Pro)
|
rs1057524911
|
|
NM_000179.3(MSH6):c.183G>C (p.Ala61=)
|
rs1060504757
|
|
NM_000179.3(MSH6):c.184C>T (p.Arg62Cys)
|
rs876659508
|
|
NM_000179.3(MSH6):c.2062G>A (p.Val688Ile)
|
rs1201347192
|
|
NM_000179.3(MSH6):c.2082C>A (p.Cys694Ter)
|
rs1114167791
|
|
NM_000179.3(MSH6):c.2180C>T (p.Thr727Ile)
|
rs767861096
|
|
NM_000179.3(MSH6):c.2298T>G (p.His766Gln)
|
rs768535330
|
|
NM_000179.3(MSH6):c.2479A>G (p.Asn827Asp)
|
rs878853716
|
|
NM_000179.3(MSH6):c.2480A>C (p.Asn827Thr)
|
rs1558665569
|
|
NM_000179.3(MSH6):c.2501G>A (p.Ser834Asn)
|
rs752544046
|
|
NM_000179.3(MSH6):c.253C>T (p.Pro85Ser)
|
rs779664343
|
|
NM_000179.3(MSH6):c.2732G>A (p.Arg911Gln)
|
rs761622304
|
|
NM_000179.3(MSH6):c.2752C>T (p.His918Tyr)
|
rs1558666591
|
|
NM_000179.3(MSH6):c.275C>T (p.Pro92Leu)
|
rs1257646433
|
|
NM_000179.3(MSH6):c.2892T>A (p.Cys964Ter)
|
rs1482228994
|
|
NM_000179.3(MSH6):c.2899A>G (p.Ile967Val)
|
rs876661067
|
|
NM_000179.3(MSH6):c.2941A>G (p.Ile981Val)
|
rs730881799
|
|
NM_000179.3(MSH6):c.2963G>T (p.Arg988Leu)
|
rs115386788
|
|
NM_000179.3(MSH6):c.3018C>A (p.Tyr1006Ter)
|
rs1553414395
|
|
NM_000179.3(MSH6):c.3019T>C (p.Trp1007Arg)
|
rs1553414398
|
|
NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile)
|
rs576269342
|
|
NM_000179.3(MSH6):c.3153A>G (p.Val1051=)
|
rs1057521587
|
|
NM_000179.3(MSH6):c.3172+230_3172+231dup
|
rs10666222
|
|
NM_000179.3(MSH6):c.3195_3199del (p.Asn1065fs)
|
rs1384780420
|
|
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=)
|
rs3136351
|
|
NM_000179.3(MSH6):c.3260C>G (p.Pro1087Arg)
|
rs63750753
|
|
NM_000179.3(MSH6):c.3261del (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3270G>C (p.Glu1090Asp)
|
rs876660165
|
|
NM_000179.3(MSH6):c.3307T>G (p.Phe1103Val)
|
rs1553331522
|
|
NM_000179.3(MSH6):c.3314G>T (p.Gly1105Val)
|
rs1060502910
|
|
NM_000179.3(MSH6):c.334A>G (p.Asn112Asp)
|
rs864622397
|
|
NM_000179.3(MSH6):c.3464_3477dup (p.Val1160fs)
|
rs2104504931
|
|
NM_000179.3(MSH6):c.34C>A (p.Pro12Thr)
|
rs587782084
|
|
NM_000179.3(MSH6):c.3524C>G (p.Thr1175Ser)
|
rs369583604
|
|
NM_000179.3(MSH6):c.3557-16T>A
|
rs1259754363
|
|
NM_000179.3(MSH6):c.3557-2del
|
rs587779271
|
|
NM_000179.3(MSH6):c.3557-4del
|
rs267608102
|
|
NM_000179.3(MSH6):c.3613_3615dup (p.Thr1205dup)
|
rs1558390840
|
|
NM_000179.3(MSH6):c.3636G>T (p.Val1212=)
|
rs1363247790
|
|
NM_000179.3(MSH6):c.3646G>C (p.Gly1216Arg)
|
rs1114167690
|
|
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs)
|
rs876661222
|
|
NM_000179.3(MSH6):c.378A>G (p.Ser126=)
|
rs1572708845
|
|
NM_000179.3(MSH6):c.3836G>A (p.Ser1279Asn)
|
rs864622400
|
|
NM_000179.3(MSH6):c.3904G>A (p.Ala1302Thr)
|
rs1553333561
|
|
NM_000179.3(MSH6):c.3971AGA[1] (p.Lys1325del)
|
rs587779300
|
|
NM_000179.3(MSH6):c.3992G>A (p.Arg1331Gln)
|
rs184131049
|
|
NM_000179.3(MSH6):c.3996_3999dup (p.Arg1334fs)
|
rs1553333753
|
|
NM_000179.3(MSH6):c.4001+27TAAC[3]
|
rs267608136
|
|
NM_000179.3(MSH6):c.4001+2TAAC[2]
|
rs267608132
|
|
NM_000179.3(MSH6):c.4001+2TAAC[4]
|
rs267608132
|
|
NM_000179.3(MSH6):c.4001+42_4001+44dup
|
rs926031657
|
|
NM_000179.3(MSH6):c.4001+4_4001+8dup
|
rs587782853
|
|
NM_000179.3(MSH6):c.4001+50_4001+51dup
|
rs199687113
|
|
NM_000179.3(MSH6):c.4002-10dup
|
rs59056100
|
|
NM_000179.3(MSH6):c.4002-11_4002-10del
|
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.4002-36C>A
|
rs983280767
|
|
NM_000179.3(MSH6):c.4022_4077dup (p.Leu1360delinsLysGlyGlnLeuTer)
|
rs1553334006
|
|
NM_000179.3(MSH6):c.4034_4042del (p.Val1345_Ala1347del)
|
rs864622703
|
|
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer)
|
rs55740729
|
|
NM_000179.3(MSH6):c.4074_*37dup (p.Lys1358_Ter1361=)
|
rs2104585775
|
|
NM_000179.3(MSH6):c.4077_4080dup (p.Ter1361IleextTer?)
|
rs575068534
|
|
NM_000179.3(MSH6):c.423C>G (p.Gly141=)
|
rs777587467
|
|
NM_000179.3(MSH6):c.457+32TG[12]
|
rs397839804
|
|
NM_000179.3(MSH6):c.520A>C (p.Arg174=)
|
rs1405000889
|
|
NM_000179.3(MSH6):c.545C>G (p.Ala182Gly)
|
rs876659786
|
|
NM_000179.3(MSH6):c.627+26_627+37del
|
rs1558656848
|
|
NM_000179.3(MSH6):c.818G>T (p.Gly273Val)
|
rs769610487
|
|
NM_000179.3(MSH6):c.838A>G (p.Ser280Gly)
|
rs1558659442
|
|
NM_000179.3(MSH6):c.905G>C (p.Arg302Thr)
|
rs587781510
|
|
NM_000179.3(MSH6):c.923G>C (p.Gly308Ala)
|
rs1553412354
|
|
NM_000179.3(MSH6):c.933A>T (p.Lys311Asn)
|
rs730881785
|
|
NM_000179.3(MSH6):c.976_977insTTGCG (p.Ala326fs)
|
rs2104310469
|
|
NM_000180.4(GUCY2D):c.1245del (p.Phe415fs)
|
rs1598146173
|
|
NM_000180.4(GUCY2D):c.129_134del (p.Leu44_Leu45del)
|
rs552184470
|
|
NM_000180.4(GUCY2D):c.1343C>A (p.Ser448Ter)
|
rs61749679
|
|
NM_000180.4(GUCY2D):c.1957-2A>G
|
rs945734402
|
|
NM_000180.4(GUCY2D):c.1972C>T (p.His658Tyr)
|
rs1598149154
|
|
NM_000180.4(GUCY2D):c.1A>G (p.Met1Val)
|
rs1424348888
|
|
NM_000180.4(GUCY2D):c.2512C>G (p.Arg838Gly)
|
rs61750172
|
|
NM_000180.4(GUCY2D):c.2999G>A (p.Gly1000Glu)
|
rs1598151461
|
|
NM_000181.4(GUSB):c.1506C>A (p.Asn502Lys)
|
rs1159683641
|
|
NM_000181.4(GUSB):c.366G>C (p.Arg122Ser)
|
rs1583946993
|
|
NM_000181.4(GUSB):c.380A>G (p.His127Arg)
|
rs765699404
|
|
NM_000182.5(HADHA):c.1689+2T>G
|
rs1574602991
|
|
NM_000183.3(HADHB):c.1206C>G (p.Tyr402Ter)
|
rs146538551
|
|
NM_000183.3(HADHB):c.1375G>A (p.Ala459Thr)
|
rs1376342675
|
|
NM_000183.3(HADHB):c.5_7dup (p.Thr2dup)
|
rs3839049
|
|
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu)
|
rs1064794848
|
|
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn)
|
rs536814318
|
|
NM_000190.4(HMBS):c.973C>T (p.Arg325Ter)
|
rs2134885779
|
|
NM_000191.3(HMGCL):c.230del (p.Val77fs)
|
rs1638632303
|
|
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs)
|
rs764264834
|
|
NM_000194.3(HPRT1):c.134+1G>C
|
rs2124290378
|
|
NM_000194.3(HPRT1):c.134+6_134+9del
|
rs794727238
|
|
NM_000194.3(HPRT1):c.221T>G (p.Phe74Cys)
|
rs1602741150
|
|
NM_000194.3(HPRT1):c.233T>C (p.Leu78Pro)
|
rs2124291470
|
|
NM_000194.3(HPRT1):c.384+1G>T
|
rs398123240
|
|
NM_000194.3(HPRT1):c.486-7T>G
|
rs763693519
|
|
NM_000199.5(SGSH):c.1080del (p.Val361fs)
|
rs770947426
|
|
NM_000199.5(SGSH):c.1159G>A (p.Val387Met)
|
rs62620232
|
|
NM_000199.5(SGSH):c.1448C>T (p.Pro483Leu)
|
rs1598736884
|
|
NM_000202.8(IDS):c.418+34G>T
|
rs1463289439
|
|
NM_000202.8(IDS):c.442G>T (p.Asp148Tyr)
|
rs1602745838
|
|
NM_000202.8(IDS):c.469C>T (p.Pro157Ser)
|
rs864622774
|
|
NM_000202.8(IDS):c.507+1G>A
|
rs2124055167
|
|
NM_000202.8(IDS):c.507+2T>G
|
rs2124055161
|
|
NM_000203.5(IDUA):c.1250C>A (p.Thr417Lys)
|
rs1464048268
|
|
NM_000203.5(IDUA):c.1660C>G (p.Leu554Val)
|
rs2153022999
|
|
NM_000203.5(IDUA):c.956C>A (p.Ala319Glu)
|
rs781534097
|
|
NM_000206.3(IL2RG):c.421C>T (p.Gln141Ter)
|
rs1556330713
|
|
NM_000206.3(IL2RG):c.903_910del (p.Glu302fs)
|
rs1556329779
|
|
NM_000206.3(IL2RG):c.905_906del (p.Glu302fs)
|
rs2147746709
|
|
NM_000207.3(INS):c.188-31G>A
|
rs797045623
|
|
NM_000208.4(INSR):c.1513A>G (p.Ile505Val)
|
rs1599937384
|
|
NM_000208.4(INSR):c.3661T>G (p.Ser1221Ala)
|
rs201979105
|
|
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_000209.4(PDX1):c.97C>A (p.Pro33Thr)
|
rs192902098
|
|
NM_000214.3(JAG1):c.2101A>C (p.Thr701Pro)
|
rs79176844
|
|
NM_000214.3(JAG1):c.2458+1G>A
|
rs2122600431
|
|
NM_000214.3(JAG1):c.886+1G>A
|
rs1600186024
|
|
NM_000214.3(JAG1):c.903dup (p.Thr302fs)
|
rs2122614562
|
|
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser)
|
rs149452625
|
|
NM_000215.4(JAK3):c.2933_2934del (p.Lys978fs)
|
rs1380154594
|
|
NM_000218.3(KCNQ1):c.551A>C (p.Tyr184Ser)
|
rs199473397
|
|
NM_000222.3(KIT):c.1094C>G (p.Ser365Cys)
|
rs2109705813
|
|
NM_000223.4(KRT12):c.993_994dup (p.Ser332fs)
|
rs2143258837
|
|
NM_000228.3(LAMB3):c.628+2T>A
|
rs1666753666
|
|
NM_000232.5(SGCB):c.243+2T>C
|
rs1553940661
|
|
NM_000232.5(SGCB):c.299T>A (p.Met100Lys)
|
rs104893871
|
|
NM_000232.5(SGCB):c.366_367del (p.Leu122_Tyr123insTer)
|
rs1578126090
|
|
NM_000232.5(SGCB):c.466_467del (p.Glu156fs)
|
rs1578125670
|
|
NM_000232.5(SGCB):c.753+5G>A
|
rs936193061
|
|
NM_000235.4(LIPA):c.266T>C (p.Leu89Pro)
|
rs2133436727
|
|
NM_000235.4(LIPA):c.647T>A (p.Leu216Ter)
|
rs2133429402
|
|
NM_000237.3(LPL):c.1081G>A (p.Ala361Thr)
|
rs118204071
|
|
NM_000237.3(LPL):c.1306G>C (p.Gly436Arg)
|
rs587777909
|
|
NM_000237.3(LPL):c.190G>T (p.Val64Leu)
|
rs114101772
|
|
NM_000237.3(LPL):c.242G>A (p.Gly81Asp)
|
rs762007406
|
|
NM_000237.3(LPL):c.257G>C (p.Gly86Ala)
|
rs2069936138
|
|
NM_000237.3(LPL):c.587G>C (p.Ser196Thr)
|
rs1301261115
|
|
NM_000237.3(LPL):c.691G>A (p.Asp231Asn)
|
rs2128838188
|
|
NM_000237.3(LPL):c.862G>C (p.Ala288Pro)
|
rs1800011
|
|
NM_000237.3(LPL):c.877T>C (p.Ser293Pro)
|
rs1274915423
|
|
NM_000237.3(LPL):c.88+1G>T
|
rs766134215
|
|
NM_000237.3(LPL):c.886G>A (p.Ala296Thr)
|
rs746740949
|
|
NM_000237.3(LPL):c.984G>T (p.Met328Ile)
|
rs2128838564
|
|
NM_000238.4(KCNH2):c.127T>G (p.Tyr43Asp)
|
rs199472837
|
|
NM_000238.4(KCNH2):c.140G>T (p.Gly47Val)
|
rs199473490
|
|
NM_000238.4(KCNH2):c.221C>T (p.Thr74Met)
|
rs199473422
|
|
NM_000238.4(KCNH2):c.257T>G (p.Leu86Arg)
|
rs199472851
|
|
NM_000238.4(KCNH2):c.2654G>A (p.Arg885His)
|
rs202194495
|
|
NM_000238.4(KCNH2):c.2771G>A (p.Gly924Glu)
|
rs199473009
|
|
NM_000238.4(KCNH2):c.298C>G (p.Arg100Gly)
|
rs121912515
|
|
NM_000238.4(KCNH2):c.301A>G (p.Lys101Glu)
|
rs199472856
|
|
NM_000238.4(KCNH2):c.326T>G (p.Leu109Arg)
|
rs199473498
|
|
NM_000238.4(KCNH2):c.453dup (p.Thr152fs)
|
rs761863251
|
|
NM_000243.3(MEFV):c.-12C>G
|
rs104895148
|
|
NM_000243.3(MEFV):c.1115T>C (p.Leu372Pro)
|
rs1218172738
|
|
NM_000243.3(MEFV):c.1267A>G (p.Ile423Val)
|
rs104895149
|
|
NM_000243.3(MEFV):c.1318C>G (p.Gln440Glu)
|
rs11466026
|
|
NM_000243.3(MEFV):c.1405G>T (p.Val469Leu)
|
rs104895173
|
|
NM_000243.3(MEFV):c.1413C>A (p.Tyr471Ter)
|
rs104895207
|
|
NM_000243.3(MEFV):c.1432C>T (p.His478Tyr)
|
rs104895105
|
|
NM_000243.3(MEFV):c.1437C>G (p.Phe479Leu)
|
rs104895083
|
|
NM_000243.3(MEFV):c.1459G>A (p.Val487Met)
|
rs104895100
|
|
NM_000243.3(MEFV):c.1463G>A (p.Gly488Asp)
|
rs1596352746
|
|
NM_000243.3(MEFV):c.1501C>G (p.Arg501Gly)
|
rs104895101
|
|
NM_000243.3(MEFV):c.1541G>A (p.Gly514Glu)
|
rs104895168
|
|
NM_000243.3(MEFV):c.1730C>A (p.Thr577Asn)
|
rs1057516210
|
|
NM_000243.3(MEFV):c.1730C>G (p.Thr577Ser)
|
rs1057516210
|
|
NM_000243.3(MEFV):c.1773T>G (p.Ile591Met)
|
rs141706767
|
|
NM_000243.3(MEFV):c.1841C>T (p.Ser614Phe)
|
rs1332372034
|
|
NM_000243.3(MEFV):c.1854G>C (p.Lys618Asn)
|
rs766576175
|
|
NM_000243.3(MEFV):c.1895G>C (p.Gly632Ala)
|
rs967990798
|
|
NM_000243.3(MEFV):c.1910A>G (p.Asp637Gly)
|
rs387907568
|
|
NM_000243.3(MEFV):c.1967A>C (p.Glu656Ala)
|
rs104895086
|
|
NM_000243.3(MEFV):c.2024G>A (p.Ser675Asn)
|
rs104895087
|
|
NM_000243.3(MEFV):c.2038A>C (p.Met680Leu)
|
rs104895089
|
|
NM_000243.3(MEFV):c.2040G>A (p.Met680Ile)
|
rs28940580
|
|
NM_000243.3(MEFV):c.2042C>T (p.Thr681Ile)
|
rs104895090
|
|
NM_000243.3(MEFV):c.2060G>A (p.Gly687Asp)
|
rs387907570
|
|
NM_000243.3(MEFV):c.2064C>G (p.Tyr688Ter)
|
rs104895098
|
|
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del)
|
rs104895091
|
|
NM_000243.3(MEFV):c.2080A>T (p.Met694Leu)
|
rs61752717
|
|
NM_000243.3(MEFV):c.2081T>A (p.Met694Lys)
|
rs1596350022
|
|
NM_000243.3(MEFV):c.2084A>T (p.Lys695Met)
|
rs104895094
|
|
NM_000243.3(MEFV):c.2105C>G (p.Ser702Cys)
|
rs104895166
|
|
NM_000243.3(MEFV):c.2147A>T (p.Lys716Met)
|
rs1596349932
|
|
NM_000243.3(MEFV):c.2149C>A (p.Arg717Ser)
|
rs104895192
|
|
NM_000243.3(MEFV):c.2150G>A (p.Arg717His)
|
rs545517350
|
|
NM_000243.3(MEFV):c.2150G>T (p.Arg717Leu)
|
rs545517350
|
|
NM_000243.3(MEFV):c.2229C>G (p.Phe743Leu)
|
rs104895152
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
NM_000243.3(MEFV):c.2246C>G (p.Ser749Cys)
|
rs104895171
|
|
NM_000243.3(MEFV):c.2281C>A (p.Arg761Ser)
|
rs774807554
|
|
NM_000243.3(MEFV):c.2305C>G (p.Pro769Ala)
|
rs387907565
|
|
NM_000243.3(MEFV):c.2330dup (p.Gln778fs)
|
rs1596349724
|
|
NM_000243.3(MEFV):c.250G>A (p.Glu84Lys)
|
rs150819742
|
|
NM_000243.3(MEFV):c.25C>T (p.Leu9=)
|
rs104895146
|
|
NM_000243.3(MEFV):c.322A>C (p.Ser108Arg)
|
rs104895103
|
|
NM_000243.3(MEFV):c.374AGGGGAACG[3] (p.125EGN[3])
|
rs104895121
|
|
NM_000243.3(MEFV):c.383A>T (p.Glu128Val)
|
rs201172310
|
|
NM_000243.3(MEFV):c.407G>A (p.Gly136Glu)
|
rs876660989
|
|
NM_000243.3(MEFV):c.428G>C (p.Arg143Pro)
|
rs104895190
|
|
NM_000243.3(MEFV):c.488A>C (p.Glu163Ala)
|
rs104895106
|
|
NM_000243.3(MEFV):c.536G>T (p.Ser179Ile)
|
rs104895125
|
|
NM_000243.3(MEFV):c.539C>G (p.Pro180Arg)
|
rs104895134
|
|
NM_000243.3(MEFV):c.586G>T (p.Gly196Trp)
|
rs104895179
|
|
NM_000243.3(MEFV):c.606_621dup (p.Ser208fs)
|
rs104895180
|
|
NM_000243.3(MEFV):c.688G>C (p.Glu230Gln)
|
rs104895080
|
|
NM_000243.3(MEFV):c.726C>G (p.Ser242Arg)
|
rs104895127
|
|
NM_000243.3(MEFV):c.739A>G (p.Ile247Val)
|
rs1472692347
|
|
NM_000243.3(MEFV):c.751G>A (p.Glu251Lys)
|
rs104895111
|
|
NM_000243.3(MEFV):c.761_764dup (p.Asn256fs)
|
rs104895138
|
|
NM_000243.3(MEFV):c.803C>T (p.Ala268Val)
|
rs104895123
|
|
NM_000243.3(MEFV):c.848C>G (p.Pro283Arg)
|
rs104895119
|
|
NM_000243.3(MEFV):c.866C>A (p.Ala289Glu)
|
rs104895132
|
|
NM_000243.3(MEFV):c.896A>G (p.Glu299Gly)
|
rs104895167
|
|
NM_000245.4(MET):c.1125C>G (p.Asn375Lys)
|
rs776693512
|
|
NM_000245.4(MET):c.135C>G (p.Asn45Lys)
|
rs1562883006
|
|
NM_000245.4(MET):c.1393-1G>T
|
rs1584921909
|
|
NM_000245.4(MET):c.1393-2A>T
|
rs1584921898
|
|
NM_000245.4(MET):c.1496A>G (p.Asn499Ser)
|
rs1253878709
|
|
NM_000245.4(MET):c.1508T>A (p.Leu503Gln)
|
rs1562908826
|
|
NM_000245.4(MET):c.1541C>T (p.Pro514Leu)
|
|
|
NM_000245.4(MET):c.1701+58dup
|
rs112241458
|
|
NM_000245.4(MET):c.1701+59G>T
|
rs759007523
|
|
NM_000245.4(MET):c.1866G>C (p.Leu622Phe)
|
rs1562921668
|
|
NM_000245.4(MET):c.1933G>A (p.Gly645Arg)
|
rs763849125
|
|
NM_000245.4(MET):c.1973T>C (p.Val658Ala)
|
rs1584941533
|
|
NM_000245.4(MET):c.2103-1G>T
|
rs1336351205
|
|
NM_000245.4(MET):c.2103-2A>T
|
rs1470403316
|
|
NM_000245.4(MET):c.2255C>A (p.Ser752Tyr)
|
|
|
NM_000245.4(MET):c.236A>G (p.Gln79Arg)
|
rs1562883214
|
|
NM_000245.4(MET):c.2510A>G (p.His837Arg)
|
rs1041349799
|
|
NM_000245.4(MET):c.252C>T (p.Tyr84=)
|
rs1584876265
|
|
NM_000245.4(MET):c.253A>G (p.Lys85Glu)
|
rs1791469321
|
|
NM_000245.4(MET):c.2568T>G (p.Asn856Lys)
|
rs118057172
|
|
NM_000245.4(MET):c.2584-1G>T
|
rs1240673121
|
|
NM_000245.4(MET):c.2584-3C>T
|
rs1337305891
|
|
NM_000245.4(MET):c.2584-9del
|
rs57349036
|
|
NM_000245.4(MET):c.2672C>G (p.Ala891Gly)
|
rs1562929174
|
|
NM_000245.4(MET):c.2887+5A>T
|
rs752292538
|
|
NM_000245.4(MET):c.2892G>A (p.Leu964=)
|
rs1584955273
|
|
NM_000245.4(MET):c.2995G>C (p.Glu999Gln)
|
rs1404824650
|
|
NM_000245.4(MET):c.3151G>A (p.Val1051Ile)
|
rs775997318
|
|
NM_000245.4(MET):c.3352A>G (p.Ile1118Val)
|
rs755234697
|
|
NM_000245.4(MET):c.3991T>G (p.Ser1331Ala)
|
rs1562941559
|
|
NM_000245.4(MET):c.4041G>T (p.Glu1347Asp)
|
rs1562941622
|
|
NM_000245.4(MET):c.4097C>T (p.Pro1366Leu)
|
rs778084120
|
|
NM_000245.4(MET):c.410A>G (p.Asn137Ser)
|
rs1584876716
|
|
NM_000245.4(MET):c.4140C>A (p.Asp1380Glu)
|
rs370368651
|
|
NM_000245.4(MET):c.465G>T (p.Gln155His)
|
rs863224695
|
|
NM_000245.4(MET):c.569A>G (p.Asp190Gly)
|
rs1028165414
|
|
NM_000245.4(MET):c.728A>G (p.Asp243Gly)
|
rs1562883992
|
|
NM_000245.4(MET):c.850A>G (p.Ile284Val)
|
rs776014448
|
|
NM_000245.4(MET):c.925A>C (p.Thr309Pro)
|
rs35601148
|
|
NM_000249.3(MLH1):c.-107C>G
|
rs587778886
|
|
NM_000249.4(MLH1):c.1038+4A>C
|
rs1251478879
|
|
NM_000249.4(MLH1):c.1038+8C>T
|
rs751872237
|
|
NM_000249.4(MLH1):c.1039-31_1039-26del
|
rs1178900468
|
|
NM_000249.4(MLH1):c.1117G>A (p.Gly373Arg)
|
rs766904735
|
|
NM_000249.4(MLH1):c.116+27C>T
|
rs1575377948
|
|
NM_000249.4(MLH1):c.1253A>G (p.Asp418Gly)
|
rs754898711
|
|
NM_000249.4(MLH1):c.1276C>T (p.Gln426Ter)
|
rs63750316
|
|
NM_000249.4(MLH1):c.1278_1279insTG (p.Gln427fs)
|
rs1559553492
|
|
NM_000249.4(MLH1):c.1281del (p.Asp428fs)
|
rs1575536988
|
|
NM_000249.4(MLH1):c.1387G>T (p.Gly463Ter)
|
rs1559554339
|
|
NM_000249.4(MLH1):c.1410-2A>G
|
rs746536721
|
|
NM_000249.4(MLH1):c.1420C>G (p.Arg474Gly)
|
rs147939838
|
|
NM_000249.4(MLH1):c.1453G>T (p.Asp485Tyr)
|
rs63750314
|
|
NM_000249.4(MLH1):c.1500_1502del (p.Ile501del)
|
rs587778920
|
|
NM_000249.4(MLH1):c.1559-16A>T
|
rs769709911
|
|
NM_000249.4(MLH1):c.1587C>T (p.Ser529=)
|
rs767089159
|
|
NM_000249.4(MLH1):c.1615G>T (p.Ala539Ser)
|
rs1559575256
|
|
NM_000249.4(MLH1):c.1667+2T>C
|
rs878853780
|
|
NM_000249.4(MLH1):c.1690C>T (p.Leu564Phe)
|
rs786202693
|
|
NM_000249.4(MLH1):c.1791G>T (p.Trp597Cys)
|
rs1416171624
|
|
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr)
|
rs63750449
|
|
NM_000249.4(MLH1):c.1864del (p.Ala623fs)
|
rs1559588540
|
|
NM_000249.4(MLH1):c.186A>G (p.Gln62=)
|
rs1559506261
|
|
NM_000249.4(MLH1):c.1972del (p.Leu658fs)
|
|
|
NM_000249.4(MLH1):c.1989+11_1989+12del
|
rs2125991370
|
|
NM_000249.4(MLH1):c.2027T>C (p.Leu676Pro)
|
rs63750242
|
|
NM_000249.4(MLH1):c.204C>G (p.Ile68Met)
|
rs780141938
|
|
NM_000249.4(MLH1):c.2065C>T (p.Gln689Ter)
|
rs41542214
|
|
NM_000249.4(MLH1):c.2153A>C (p.His718Pro)
|
rs587778983
|
|
NM_000249.4(MLH1):c.2262del (p.Arg755fs)
|
rs267607904
|
|
NM_000249.4(MLH1):c.253C>T (p.Leu85=)
|
rs63750659
|
|
NM_000249.4(MLH1):c.306+6C>T
|
rs746641892
|
|
NM_000249.4(MLH1):c.367A>G (p.Lys123Glu)
|
rs63750542
|
|
NM_000249.4(MLH1):c.514G>T (p.Glu172Ter)
|
rs1559524405
|
|
NM_000249.4(MLH1):c.588+5G>C
|
rs267607768
|
|
NM_000249.4(MLH1):c.677G>A (p.Arg226Gln)
|
rs63751711
|
|
NM_000249.4(MLH1):c.791-1G>C
|
rs267607795
|
|
NM_000249.4(MLH1):c.791-5T>G
|
rs267607788
|
|
NM_000249.4(MLH1):c.885-21TC[2]
|
rs267607804
|
|
NM_000249.4(MLH1):c.946_954del (p.Phe316_His318del)
|
rs1575509703
|
|
NM_000251.2(MSH2):c.-68G>A
|
rs576303132
|
|
NM_000251.3(MSH2):c.-21A>T
|
rs776559145
|
|
NM_000251.3(MSH2):c.1058del (p.Lys353fs)
|
rs1573456772
|
|
NM_000251.3(MSH2):c.1133A>G (p.Glu378Gly)
|
rs876659404
|
|
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)
|
rs63749849
|
|
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)
|
rs587779075
|
|
NM_000251.3(MSH2):c.1204C>G (p.Gln402Glu)
|
rs63751412
|
|
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs)
|
rs63750086
|
|
NM_000251.3(MSH2):c.1286A>C (p.Gln429Pro)
|
rs1558493372
|
|
NM_000251.3(MSH2):c.1307T>C (p.Phe436Ser)
|
rs1573519324
|
|
NM_000251.3(MSH2):c.1327C>A (p.Leu443Ile)
|
rs876659906
|
|
NM_000251.3(MSH2):c.1331G>A (p.Arg444His)
|
rs557339938
|
|
NM_000251.3(MSH2):c.1389G>T (p.Val463=)
|
rs1553365702
|
|
NM_000251.3(MSH2):c.1511-1G>T
|
rs267607964
|
|
NM_000251.3(MSH2):c.1547G>A (p.Ser516Asn)
|
rs373564353
|
|
NM_000251.3(MSH2):c.1595T>C (p.Val532Ala)
|
rs754778750
|
|
NM_000251.3(MSH2):c.1661+1G>A
|
rs267607969
|
|
NM_000251.3(MSH2):c.1661+1G>T
|
rs267607969
|
|
NM_000251.3(MSH2):c.1746C>T (p.Val582=)
|
rs786201486
|
|
NM_000251.3(MSH2):c.174dup (p.Lys59fs)
|
rs1672250622
|
|
NM_000251.3(MSH2):c.1801_1805del (p.Gln601fs)
|
rs1573566488
|
|
NM_000251.3(MSH2):c.1813G>A (p.Val605Ile)
|
rs730881777
|
|
NM_000251.3(MSH2):c.1946C>T (p.Ala649Val)
|
rs876659816
|
|
NM_000251.3(MSH2):c.198C>G (p.Tyr66Ter)
|
rs730881784
|
|
NM_000251.3(MSH2):c.1A>G (p.Met1Val)
|
rs267607911
|
|
NM_000251.3(MSH2):c.2005+59_2005+61dup
|
rs76761634
|
|
NM_000251.3(MSH2):c.2005+8dup
|
rs267607992
|
|
NM_000251.3(MSH2):c.2008C>T (p.Pro670Ser)
|
rs1558519495
|
|
NM_000251.3(MSH2):c.2009C>A (p.Pro670His)
|
rs41294982
|
|
NM_000251.3(MSH2):c.2012A>G (p.Asn671Ser)
|
rs1558519505
|
|
NM_000251.3(MSH2):c.212-1G>T
|
rs267607914
|
|
NM_000251.3(MSH2):c.212-3_213del
|
rs1573436131
|
|
NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter)
|
rs587779139
|
|
NM_000251.3(MSH2):c.2210+8C>T
|
rs778020437
|
|
NM_000251.3(MSH2):c.2211-1G>C
|
rs267607979
|
|
NM_000251.3(MSH2):c.2243A>T (p.Asp748Val)
|
rs1558521518
|
|
NM_000251.3(MSH2):c.2276G>A (p.Gly759Glu)
|
rs386833406
|
|
NM_000251.3(MSH2):c.2287G>C (p.Ala763Pro)
|
rs1318630651
|
|
NM_000251.3(MSH2):c.2299del (p.Ser767fs)
|
rs1573574024
|
|
NM_000251.3(MSH2):c.2332dup (p.Cys778fs)
|
rs1573574188
|
|
NM_000251.3(MSH2):c.2335A>G (p.Met779Val)
|
rs1114167843
|
|
NM_000251.3(MSH2):c.2352del (p.His785fs)
|
rs1667395869
|
|
NM_000251.3(MSH2):c.2393A>G (p.Asn798Ser)
|
rs786204073
|
|
NM_000251.3(MSH2):c.2417C>T (p.Thr806Ile)
|
rs758889557
|
|
NM_000251.3(MSH2):c.2459-12A>G
|
rs267608012
|
|
NM_000251.3(MSH2):c.2459-46G>A
|
rs1573578232
|
|
NM_000251.3(MSH2):c.2459G>A (p.Gly820Asp)
|
rs794729229
|
|
NM_000251.3(MSH2):c.2461_2462del (p.Val821fs)
|
rs1114167828
|
|
NM_000251.3(MSH2):c.2533A>G (p.Lys845Glu)
|
rs63750571
|
|
NM_000251.3(MSH2):c.2575G>A (p.Glu859Lys)
|
rs63749830
|
|
NM_000251.3(MSH2):c.2581C>T (p.Gln861Ter)
|
rs63750291
|
|
NM_000251.3(MSH2):c.2647A>G (p.Ile883Val)
|
rs2104459470
|
|
NM_000251.3(MSH2):c.2666C>T (p.Ser889Phe)
|
rs1553370845
|
|
NM_000251.3(MSH2):c.2714C>G (p.Thr905Arg)
|
rs267608022
|
|
NM_000251.3(MSH2):c.271G>T (p.Asp91Tyr)
|
rs1558457163
|
|
NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del)
|
rs267607919
|
|
NM_000251.3(MSH2):c.2766T>G (p.Phe922Leu)
|
rs55859129
|
|
NM_000251.3(MSH2):c.2801C>T (p.Thr934Met)
|
rs587779969
|
|
NM_000251.3(MSH2):c.356T>A (p.Leu119Ter)
|
rs1573437173
|
|
NM_000251.3(MSH2):c.358G>A (p.Ala120Thr)
|
rs2103985139
|
|
NM_000251.3(MSH2):c.448G>T (p.Val150Phe)
|
rs1558459157
|
|
NM_000251.3(MSH2):c.507A>G (p.Ile169Met)
|
rs748762580
|
|
NM_000251.3(MSH2):c.593A>G (p.Glu198Gly)
|
rs63750327
|
|
NM_000251.3(MSH2):c.631G>C (p.Gly211Arg)
|
rs587780689
|
|
NM_000251.3(MSH2):c.644del (p.Gln215fs)
|
rs1558459885
|
|
NM_000251.3(MSH2):c.645+1G>T
|
rs267607689
|
|
NM_000251.3(MSH2):c.64T>A (p.Phe22Ile)
|
rs1189127007
|
|
NM_000251.3(MSH2):c.67T>C (p.Phe23Leu)
|
rs372619120
|
|
NM_000251.3(MSH2):c.698C>T (p.Ser233Phe)
|
rs587781724
|
|
NM_000251.3(MSH2):c.721C>T (p.Leu241Phe)
|
rs1410859610
|
|
NM_000251.3(MSH2):c.793-10T>G
|
rs1060502016
|
|
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+29del
|
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+29del
|
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_000251.3(MSH2):c.961A>G (p.Thr321Ala)
|
rs587781550
|
|
NM_000251.3(MSH2):c.97A>G (p.Thr33Ala)
|
rs63751107
|
|
NM_000251.3(MSH2):c.998G>T (p.Cys333Phe)
|
rs63750828
|
|
NM_000252.3(MTM1):c.136+1G>T
|
rs1603124201
|
|
NM_000252.3(MTM1):c.490_493del (p.Trp164fs)
|
rs1603184989
|
|
NM_000254.3(MTR):c.*16del
|
rs67705775
|
|
NM_000254.3(MTR):c.2059_2060del (p.Ile687fs)
|
rs1664521219
|
|
NM_000254.3(MTR):c.2482G>A (p.Gly828Ser)
|
rs1413989228
|
|
NM_000255.4(MMUT):c.1011T>A (p.Phe337Leu)
|
rs1581831934
|
|
NM_000255.4(MMUT):c.1022dup (p.Asn341fs)
|
rs752898811
|
|
NM_000255.4(MMUT):c.1196_1197del (p.Val399fs)
|
rs1227030642
|
|
NM_000255.4(MMUT):c.1315T>G (p.Tyr439Asp)
|
rs1581829908
|
|
NM_000255.4(MMUT):c.1843C>A (p.Pro615Thr)
|
rs1302409621
|
|
NM_000255.4(MMUT):c.959C>T (p.Ala320Val)
|
rs1581832011
|
|
NM_000256.3(MYBPC3):c.1084A>G (p.Ser362Gly)
|
rs730880633
|
|
NM_000256.3(MYBPC3):c.2618C>T (p.Pro873Leu)
|
rs371401403
|
|
NM_000256.3(MYBPC3):c.3628-41_3628-17del
|
rs36212066
|
|
NM_000257.4(MYH7):c.1748C>T (p.Ala583Val)
|
rs2138672244
|
|
NM_000257.4(MYH7):c.2420G>C (p.Arg807Pro)
|
rs141414377
|
|
NM_000257.4(MYH7):c.323G>A (p.Arg108His)
|
rs730880832
|
|
NM_000257.4(MYH7):c.3337-4dup
|
rs45504498
|
|
NM_000257.4(MYH7):c.3621C>G (p.Ile1207Met)
|
rs529700838
|
|
NM_000257.4(MYH7):c.3748C>G (p.Arg1250Gly)
|
rs727503249
|
|
NM_000257.4(MYH7):c.4399C>G (p.Leu1467Val)
|
rs397516214
|
|
NM_000257.4(MYH7):c.4992C>A (p.Asn1664Lys)
|
rs763538103
|
|
NM_000257.4(MYH7):c.715G>A (p.Asp239Asn)
|
rs397516264
|
|
NM_000257.4(MYH7):c.746G>T (p.Arg249Leu)
|
rs3218713
|
|
NM_000258.3(MYL3):c.157+1G>A
|
rs2106910461
|
|
NM_000260.4(MYO7A):c.1046C>A (p.Ser349Tyr)
|
rs782432573
|
|
NM_000260.4(MYO7A):c.1198_1199dup (p.Gly401fs)
|
rs1591287317
|
|
NM_000260.4(MYO7A):c.183del (p.Thr62fs)
|
rs1446588093
|
|
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp)
|
rs200454015
|
|
NM_000260.4(MYO7A):c.2750del (p.Glu917fs)
|
rs1591378140
|
|
NM_000260.4(MYO7A):c.285+2T>C
|
rs782292032
|
|
NM_000260.4(MYO7A):c.3503+12_3503+33del
|
rs111033223
|
|
NM_000260.4(MYO7A):c.4489G>C (p.Gly1497Arg)
|
rs751769391
|
|
NM_000260.4(MYO7A):c.5095C>T (p.Gln1699Ter)
|
rs530520654
|
|
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp)
|
rs111033287
|
|
NM_000260.4(MYO7A):c.5860C>A (p.Leu1954Ile)
|
rs948962
|
|
NM_000260.4(MYO7A):c.6439-1G>A
|
rs1591514873
|
|
NM_000261.2(MYOC):c.57G>T (p.Gln19His)
|
rs2234925
|
|
NM_000263.4(NAGLU):c.1004A>C (p.Tyr335Ser)
|
rs768918822
|
|
NM_000263.4(NAGLU):c.245G>A (p.Gly82Asp)
|
rs1599253815
|
|
NM_000263.4(NAGLU):c.911G>T (p.Gly304Val)
|
rs1599258487
|
|
NM_000264.5(PTCH1):c.1016A>G (p.Glu339Gly)
|
rs777696239
|
|
NM_000264.5(PTCH1):c.1055del (p.Gly352fs)
|
rs2118388096
|
|
NM_000264.5(PTCH1):c.1328C>G (p.Ala443Gly)
|
rs878853845
|
|
NM_000264.5(PTCH1):c.1347+6G>A
|
rs372655486
|
|
NM_000264.5(PTCH1):c.1579C>T (p.Gln527Ter)
|
rs1554698260
|
|
NM_000264.5(PTCH1):c.1737AGT[1] (p.Val582del)
|
rs1588578556
|
|
NM_000264.5(PTCH1):c.1848-3C>G
|
rs2118062649
|
|
NM_000264.5(PTCH1):c.1946G>T (p.Ser649Ile)
|
rs2118051663
|
|
NM_000264.5(PTCH1):c.2513_2516del (p.Lys838fs)
|
rs1588568477
|
|
NM_000264.5(PTCH1):c.3281_3282dup (p.Glu1095fs)
|
rs1588535437
|
|
NM_000264.5(PTCH1):c.3467T>G (p.Leu1156Arg)
|
rs1838315058
|
|
NM_000264.5(PTCH1):c.40GGC[3] (p.Gly17del)
|
rs756897237
|
|
NM_000264.5(PTCH1):c.654+1G>A
|
rs2118471978
|
|
NM_000264.5(PTCH1):c.915dup (p.Ala306fs)
|
rs2118413937
|
|
NM_000266.4(NDP):c.1A>G (p.Met1Val)
|
rs28933685
|
|
NM_000267.3(NF1):c.730+32dup
|
rs71142032
|
|
NM_000268.4(NF2):c.-142del
|
rs1569259403
|
|
NM_000268.4(NF2):c.1059G>C (p.Arg353Ser)
|
rs1379674036
|
|
NM_000268.4(NF2):c.1060del (p.Asp354fs)
|
rs1601644146
|
|
NM_000268.4(NF2):c.1113C>G (p.Asn371Lys)
|
rs142459414
|
|
NM_000268.4(NF2):c.1229del (p.Gln410fs)
|
rs1601648452
|
|
NM_000268.4(NF2):c.1340+2T>G
|
rs1601649049
|
|
NM_000268.4(NF2):c.1724A>G (p.Asn575Ser)
|
rs1569312127
|
|
NM_000268.4(NF2):c.179_185del (p.Trp60fs)
|
rs1601579095
|
|
NM_000268.4(NF2):c.215T>C (p.Val72Ala)
|
rs1260510937
|
|
NM_000268.4(NF2):c.223_240+8del
|
rs1601579295
|
|
NM_000268.4(NF2):c.349T>G (p.Leu117Val)
|
rs1569281810
|
|
NM_000268.4(NF2):c.363+9G>T
|
rs1601583861
|
|
NM_000268.4(NF2):c.401C>T (p.Pro134Leu)
|
rs1029716358
|
|
NM_000268.4(NF2):c.493C>T (p.Gln165Ter)
|
rs1601611973
|
|
NM_000268.4(NF2):c.586C>T (p.Arg196Ter)
|
rs1555993336
|
|
NM_000268.4(NF2):c.600-2A>G
|
rs1601618501
|
|
NM_000268.4(NF2):c.610G>C (p.Glu204Gln)
|
rs1569295916
|
|
NM_000268.4(NF2):c.745_752del (p.Arg249fs)
|
rs1601624078
|
|
NM_000268.4(NF2):c.810+1G>A
|
rs794728682
|
|
NM_000268.4(NF2):c.810+2T>C
|
rs1601624296
|
|
NM_000268.4(NF2):c.817A>G (p.Ile273Val)
|
rs1368184325
|
|
NM_000268.4(NF2):c.876del (p.Asn293fs)
|
rs2147033768
|
|
NM_000268.4(NF2):c.933del (p.Ala313fs)
|
rs1601636894
|
|
NM_000271.5(NPC1):c.114_122del (p.Lys38_Tyr40del)
|
rs1599011473
|
|
NM_000271.5(NPC1):c.2594C>T (p.Ser865Leu)
|
rs1160114136
|
|
NM_000271.5(NPC1):c.2660C>T (p.Pro887Leu)
|
rs1169032037
|
|
NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn)
|
rs1261939149
|
|
NM_000271.5(NPC1):c.3662del (p.Phe1221fs)
|
rs786200878
|
|
NM_000271.5(NPC1):c.451_452del (p.Ser151fs)
|
rs749012588
|
|
NM_000271.5(NPC1):c.57+4A>G
|
rs1057519229
|
|
NM_000276.4(OCRL):c.1458G>A (p.Trp486Ter)
|
rs2124410812
|
|
NM_000276.4(OCRL):c.1713+2T>C
|
rs2124417909
|
|
NM_000276.4(OCRL):c.217_218del (p.Leu73fs)
|
rs2124392540
|
|
NM_000276.4(OCRL):c.40-80dup
|
rs369736288
|
|
NM_000277.1(PAH):c.[353-507G>T;754C>T]
|
|
|
NM_000277.3(PAH):c.1085C>G (p.Pro362Arg)
|
rs1592947563
|
|
NM_000277.3(PAH):c.1098_1099insTCTTATCAGAGAAGCCAAAGCTTCTCCCC (p.Leu367fs)
|
rs1592947538
|
|
NM_000277.3(PAH):c.168+5G>A
|
rs62507288
|
|
NM_000277.3(PAH):c.239dup (p.Thr81fs)
|
rs1592978816
|
|
NM_000277.3(PAH):c.500A>G (p.Asn167Ser)
|
rs77554925
|
|
NM_000277.3(PAH):c.722G>A (p.Arg241His)
|
rs62508730
|
|
NM_000278.5(PAX2):c.756_792+4del
|
rs2133950547
|
|
NM_000281.4(PCBD1):c.272del (p.Asn91fs)
|
rs1589483932
|
|
NM_000282.4(PCCA):c.1994dup (p.Met666fs)
|
rs1323994245
|
|
NM_000282.4(PCCA):c.562_573del (p.Glu188_Thr191del)
|
rs2152478820
|
|
NM_000282.4(PCCA):c.843del (p.Asn281fs)
|
rs1555400381
|
|
NM_000283.4(PDE6B):c.2021+2T>G
|
rs1577301589
|
|
NM_000283.4(PDE6B):c.2395C>T (p.Arg799Ter)
|
rs970990957
|
|
NM_000283.4(PDE6B):c.2442T>A (p.Tyr814Ter)
|
rs1577311264
|
|
NM_000284.4(PDHA1):c.1136G>T (p.Gly379Val)
|
rs2147189334
|
|
NM_000284.4(PDHA1):c.380G>A (p.Arg127Gln)
|
rs2063162114
|
|
NM_000284.4(PDHA1):c.422G>A (p.Arg141Gln)
|
rs794729213
|
|
NM_000284.4(PDHA1):c.822_826dup (p.Gly276fs)
|
rs1602228017
|
|
NM_000285.4(PEPD):c.692_694del (p.Tyr231del)
|
rs745834191
|
|
NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del)
|
rs751058068
|
|
NM_000287.4(PEX6):c.1565G>A (p.Arg522Gln)
|
rs374396138
|
|
NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp)
|
rs61753230
|
|
NM_000291.4(PGK1):c.1072G>A (p.Glu358Lys)
|
rs1603398740
|
|
NM_000292.3(PHKA2):c.1138-2A>G
|
rs1601748216
|
|
NM_000292.3(PHKA2):c.1210C>T (p.Gln404Ter)
|
rs2147934341
|
|
NM_000292.3(PHKA2):c.1324+1G>A
|
rs1289077489
|
|
NM_000292.3(PHKA2):c.133C>T (p.Arg45Trp)
|
rs1601781031
|
|
NM_000292.3(PHKA2):c.1541G>A (p.Arg514Lys)
|
rs2048198507
|
|
NM_000292.3(PHKA2):c.2735T>C (p.Met912Thr)
|
rs1158193880
|
|
NM_000292.3(PHKA2):c.2785G>C (p.Ala929Pro)
|
rs1324893950
|
|
NM_000292.3(PHKA2):c.314_317del (p.Thr105fs)
|
rs1601776523
|
|
NM_000292.3(PHKA2):c.3383T>C (p.Leu1128Pro)
|
rs797044921
|
|
NM_000292.3(PHKA2):c.3397C>T (p.Gln1133Ter)
|
rs1601687244
|
|
NM_000292.3(PHKA2):c.395A>C (p.His132Pro)
|
rs137852291
|
|
NM_000292.3(PHKA2):c.557G>C (p.Arg186Pro)
|
rs137852290
|
|
NM_000292.3(PHKA2):c.883C>T (p.Arg295Cys)
|
rs797045008
|
|
NM_000292.3(PHKA2):c.884G>T (p.Arg295Leu)
|
rs797044877
|
|
NM_000292.3(PHKA2):c.919-1G>A
|
rs2147954328
|
|
NM_000293.3(PHKB):c.1688C>A (p.Ser563Ter)
|
rs1292721679
|
|
NM_000294.3(PHKG2):c.1070T>C (p.Leu357Pro)
|
rs762089284
|
|
NM_000294.3(PHKG2):c.657del (p.Cys219fs)
|
rs1596687555
|
|
NM_000294.3(PHKG2):c.927+1G>A
|
rs1445993948
|
|
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn)
|
rs143370956
|
|
NM_000295.5(SERPINA1):c.514G>A (p.Gly172Arg)
|
rs112030253
|
|
NM_000297.4(PKD2):c.290AGG[7] (p.Glu102dup)
|
rs750077647
|
|
NM_000302.4(PLOD1):c.1479dup (p.Met494fs)
|
rs1569724692
|
|
NM_000303.3(PMM2):c.317A>T (p.Tyr106Phe)
|
rs387906824
|
|
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser)
|
rs1555453238
|
|
NM_000304.4(PMP22):c.78+3G>T
|
rs1597635528
|
|
NM_000311.5(PRNP):c.246_269del (p.60_67PHGGGWGQ[3])
|
rs138688873
|
|
NM_000311.5(PRNP):c.305C>T (p.Pro102Leu)
|
rs74315401
|
|
NM_000313.4(PROS1):c.119G>T (p.Arg40Leu)
|
rs7614835
|
|
NM_000313.4(PROS1):c.1871-14T>G
|
rs754929347
|
|
NM_000314.6(PTEN):c.-845A>C
|
rs786204861
|
|
NM_000314.6(PTEN):c.-868G>C
|
rs587782133
|
|
NM_000314.8(PTEN):c.*3448_*3463dup
|
rs763859619
|
|
NM_000314.8(PTEN):c.*3449_*3463dup
|
rs763859619
|
|
NM_000314.8(PTEN):c.-482_-474del
|
rs1226857287
|
|
NM_000314.8(PTEN):c.-513G>C
|
rs546504608
|
|
NM_000314.8(PTEN):c.-802G>A
|
rs876661166
|
|
NM_000314.8(PTEN):c.1016C>A (p.Pro339Gln)
|
rs1564568679
|
|
NM_000314.8(PTEN):c.1034T>G (p.Leu345Arg)
|
rs1554826024
|
|
NM_000314.8(PTEN):c.105G>A (p.Met35Ile)
|
rs1554893782
|
|
NM_000314.8(PTEN):c.1064C>T (p.Ser355Leu)
|
rs2132289421
|
|
NM_000314.8(PTEN):c.209+2T>C
|
rs878853937
|
|
NM_000314.8(PTEN):c.210-7_210-3del
|
rs587780544
|
|
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.256G>A (p.Ala86Thr)
|
rs1564829780
|
|
NM_000314.8(PTEN):c.2T>C (p.Met1Thr)
|
rs1858394001
|
|
NM_000314.8(PTEN):c.344A>G (p.Asp115Gly)
|
rs869312775
|
|
NM_000314.8(PTEN):c.35A>G (p.Asn12Ser)
|
rs1085308044
|
|
NM_000314.8(PTEN):c.385G>A (p.Gly129Arg)
|
rs786204929
|
|
NM_000314.8(PTEN):c.492+3A>G
|
rs1564830529
|
|
NM_000314.8(PTEN):c.493-27G>T
|
rs1589659262
|
|
NM_000314.8(PTEN):c.499A>G (p.Thr167Ala)
|
rs1210737543
|
|
NM_000314.8(PTEN):c.577C>T (p.Leu193=)
|
rs772631069
|
|
NM_000314.8(PTEN):c.592ATG[1] (p.Met199del)
|
rs1064793244
|
|
NM_000314.8(PTEN):c.599T>C (p.Phe200Ser)
|
rs786204867
|
|
NM_000314.8(PTEN):c.633C>A (p.Cys211Ter)
|
rs121909232
|
|
NM_000314.8(PTEN):c.71A>G (p.Asp24Gly)
|
rs797044910
|
|
NM_000314.8(PTEN):c.739_740insAGT (p.Leu247Ter)
|
rs1589663442
|
|
NM_000314.8(PTEN):c.80-1_80del
|
rs1554893747
|
|
NM_000314.8(PTEN):c.802-3dup
|
rs34003473
|
|
NM_000314.8(PTEN):c.802-5_802-3del
|
rs34003473
|
|
NM_000314.8(PTEN):c.802-5_802-3dup
|
rs34003473
|
|
NM_000314.8(PTEN):c.810G>T (p.Met270Ile)
|
rs1195369834
|
|
NM_000314.8(PTEN):c.94ATT[1] (p.Ile33del)
|
rs1554893765
|
|
NM_000314.8(PTEN):c.955_956insTCTGACAAGGAATATCTAGTACTTA (p.Thr319delinsIleTer)
|
rs1589665998
|
|
NM_000316.3(PTH1R):c.639-2A>G
|
rs2107039234
|
|
NM_000316.3(PTH1R):c.668A>G (p.His223Arg)
|
rs121434597
|
|
NM_000317.3(PTS):c.146A>G (p.His49Arg)
|
rs750229518
|
|
NM_000320.3(QDPR):c.174del (p.Ser59fs)
|
rs1577195951
|
|
NM_000320.3(QDPR):c.421del (p.Leu141fs)
|
rs1577191558
|
|
NM_000321.3(RB1):c.1016A>G (p.His339Arg)
|
rs1566194383
|
|
NM_000321.3(RB1):c.1031A>G (p.Gln344Arg)
|
rs1566194400
|
|
NM_000321.3(RB1):c.1111C>T (p.Pro371Ser)
|
rs1952727399
|
|
NM_000321.3(RB1):c.1128-45C>T
|
rs1285629437
|
|
NM_000321.3(RB1):c.1216-2A>G
|
rs1593453973
|
|
NM_000321.3(RB1):c.124C>G (p.Leu42Val)
|
rs1312883856
|
|
NM_000321.3(RB1):c.1399C>G (p.Arg467Gly)
|
rs398123331
|
|
NM_000321.3(RB1):c.1720A>G (p.Lys574Glu)
|
rs1593529910
|
|
NM_000321.3(RB1):c.1753C>T (p.His585Tyr)
|
rs1401332173
|
|
NM_000321.3(RB1):c.1970dup (p.Ala658fs)
|
rs2138335833
|
|
NM_000321.3(RB1):c.1973C>A (p.Ala658Asp)
|
rs587778834
|
|
NM_000321.3(RB1):c.2027T>C (p.Leu676Ser)
|
rs1566235448
|
|
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_000321.3(RB1):c.2441A>G (p.Lys814Arg)
|
rs1566237785
|
|
NM_000321.3(RB1):c.2447C>A (p.Ser816Ter)
|
rs1593539493
|
|
NM_000321.3(RB1):c.2490-1530_*109del
|
|
|
NM_000321.3(RB1):c.2521-4G>T
|
rs902298592
|
|
NM_000321.3(RB1):c.32_63del (p.Ala11fs)
|
rs1593411974
|
|
NM_000321.3(RB1):c.381-2A>T
|
rs1952480014
|
|
NM_000321.3(RB1):c.606del (p.Glu204fs)
|
rs1593438023
|
|
NM_000321.3(RB1):c.607G>C (p.Gly203Arg)
|
rs1012377281
|
|
NM_000321.3(RB1):c.611_612insTTTTTT (p.Glu204delinsAspPheLeu)
|
rs1593443469
|
|
NM_000321.3(RB1):c.649del (p.Gln217fs)
|
rs1593443514
|
|
NM_000321.3(RB1):c.940G>T (p.Val314Phe)
|
rs1566194312
|
|
NM_000322.5(PRPH2):c.227C>A (p.Ser76Ter)
|
rs1203908646
|
|
NM_000322.5(PRPH2):c.2T>G (p.Met1Arg)
|
rs121918565
|
|
NM_000322.5(PRPH2):c.535T>G (p.Trp179Gly)
|
rs61755796
|
|
NM_000322.5(PRPH2):c.584G>A (p.Arg195Gln)
|
rs121918567
|
|
NM_000322.5(PRPH2):c.635G>C (p.Ser212Thr)
|
rs61755801
|
|
NM_000322.5(PRPH2):c.737G>A (p.Trp246Ter)
|
rs1582764697
|
|
NM_000322.5(PRPH2):c.829-4C>G
|
rs1582759785
|
|
NM_000322.5(PRPH2):c.914G>A (p.Gly305Asp)
|
rs61748432
|
|
NM_000326.5(RLBP1):c.504_508del (p.Ser168fs)
|
rs1379405913
|
|
NM_000328.3(RPGR):c.2066A>T (p.Asp689Val)
|
rs2147168869
|
|
NM_000328.3(RPGR):c.2149+4T>G
|
rs945212131
|
|
NM_000329.2(RPE65):c.292_311del (p.Ile98Hisfs)
|
rs62642583
|
|
NM_000329.3(RPE65):c.1004A>T (p.Glu335Val)
|
rs1571164534
|
|
NM_000329.3(RPE65):c.1101A>G (p.Arg367=)
|
rs1553152989
|
|
NM_000329.3(RPE65):c.1243G>A (p.Ala415Thr)
|
rs1571158755
|
|
NM_000329.3(RPE65):c.1583G>T (p.Gly528Val)
|
rs1193631220
|
|
NM_000330.4(RS1):c.185-3221G>A
|
rs374054249
|
|
NM_000335.5(SCN5A):c.1126C>T (p.Arg376Cys)
|
rs199473100
|
|
NM_000335.5(SCN5A):c.1372C>T (p.Arg458Cys)
|
rs752130196
|
|
NM_000335.5(SCN5A):c.1715C>T (p.Ala572Val)
|
rs36210423
|
|
NM_000335.5(SCN5A):c.1756_1761del (p.Ala586_Leu587del)
|
rs397517953
|
|
NM_000335.5(SCN5A):c.1940C>A (p.Ala647Asp)
|
rs185638763
|
|
NM_000335.5(SCN5A):c.283G>A (p.Val95Ile)
|
rs199473054
|
|
NM_000335.5(SCN5A):c.3454C>T (p.Gln1152Ter)
|
rs1575751854
|
|
NM_000335.5(SCN5A):c.373G>C (p.Val125Leu)
|
rs199473059
|
|
NM_000335.5(SCN5A):c.3923G>A (p.Arg1308His)
|
rs537423012
|
|
NM_000335.5(SCN5A):c.481G>A (p.Glu161Lys)
|
rs199473062
|
|
NM_000337.6(SGCD):c.226G>T (p.Gly76Cys)
|
rs376659221
|
|
NM_000337.6(SGCD):c.699+13_699+15del
|
rs397517924
|
|
NM_000338.3(SLC12A1):c.1833del (p.Phe611fs)
|
rs1057520304
|
|
NM_000340.2(SLC2A2):c.682C>T (p.Arg228Ter)
|
rs773581866
|
|
NM_000342.4(SLC4A1):c.1801-2A>G
|
rs2144607086
|
|
NM_000342.4(SLC4A1):c.2278C>T (p.Arg760Trp)
|
rs373916826
|
|
NM_000343.4(SLC5A1):c.1496G>C (p.Arg499Pro)
|
rs927157864
|
|
NM_000343.4(SLC5A1):c.1695del (p.Asn565fs)
|
rs1455367784
|
|
NM_000346.4(SOX9):c.1061_1069del (p.Pro354_Pro356del)
|
rs761585795
|
|
NM_000346.4(SOX9):c.1309C>T (p.Arg437Cys)
|
rs1189441865
|
|
NM_000350.3(ABCA4):c.1025_1038del (p.Asp342fs)
|
rs63749083
|
|
NM_000350.3(ABCA4):c.1846G>A (p.Glu616Lys)
|
rs1557787473
|
|
NM_000350.3(ABCA4):c.2007G>C (p.Met669Ile)
|
rs545963645
|
|
NM_000350.3(ABCA4):c.2161-1G>A
|
rs1401924846
|
|
NM_000350.3(ABCA4):c.2537A>G (p.Asp846Gly)
|
rs779466403
|
|
NM_000350.3(ABCA4):c.2587+1G>A
|
rs61749439
|
|
NM_000350.3(ABCA4):c.2587+2T>C
|
rs1557783989
|
|
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp)
|
rs61748529
|
|
NM_000350.3(ABCA4):c.2888del (p.Gly963fs)
|
rs61752410
|
|
NM_000350.3(ABCA4):c.2919-2A>G
|
rs1660626613
|
|
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs)
|
rs387906385
|
|
NM_000350.3(ABCA4):c.3385C>G (p.Arg1129Gly)
|
rs779426136
|
|
NM_000350.3(ABCA4):c.3664_3669del (p.Val1222_Glu1223del)
|
rs1570367367
|
|
NM_000350.3(ABCA4):c.3698T>C (p.Leu1233Pro)
|
rs1366653130
|
|
NM_000350.3(ABCA4):c.36G>A (p.Trp12Ter)
|
rs761209432
|
|
NM_000350.3(ABCA4):c.3729T>A (p.Tyr1243Ter)
|
rs1570367230
|
|
NM_000350.3(ABCA4):c.3862+1G>A
|
rs61751400
|
|
NM_000350.3(ABCA4):c.4003_4004del (p.Pro1335fs)
|
rs1571265241
|
|
NM_000350.3(ABCA4):c.4036_4037del (p.Thr1346fs)
|
rs61751401
|
|
NM_000350.3(ABCA4):c.4108del (p.His1370fs)
|
rs1571265125
|
|
NM_000350.3(ABCA4):c.4571del (p.Asp1524fs)
|
rs2101027758
|
|
NM_000350.3(ABCA4):c.4734_4739del (p.Phe1579_Leu1580del)
|
rs1571258440
|
|
NM_000350.3(ABCA4):c.5012_5016del (p.Ile1671fs)
|
rs1571257754
|
|
NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del)
|
rs62646872
|
|
NM_000350.3(ABCA4):c.5196+1056A>G
|
rs886044749
|
|
NM_000350.3(ABCA4):c.5196+1136C>A
|
rs114147805
|
|
NM_000350.3(ABCA4):c.5655del (p.Val1887fs)
|
rs1659524475
|
|
NM_000350.3(ABCA4):c.5714+1G>T
|
rs1232476760
|
|
NM_000350.3(ABCA4):c.5932A>G (p.Lys1978Glu)
|
rs1064793014
|
|
NM_000350.3(ABCA4):c.6007A>T (p.Ile2003Phe)
|
rs1170554250
|
|
NM_000350.3(ABCA4):c.618C>G (p.Ser206Arg)
|
rs61748536
|
|
NM_000350.3(ABCA4):c.6221del (p.Gly2074fs)
|
rs1571243037
|
|
NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs)
|
rs281865382
|
|
NM_000350.3(ABCA4):c.6329G>A (p.Trp2110Ter)
|
rs62642565
|
|
NM_000350.3(ABCA4):c.6386G>A (p.Ser2129Asn)
|
rs1571242070
|
|
NM_000350.3(ABCA4):c.6471del (p.Lys2158fs)
|
rs1373168392
|
|
NM_000350.3(ABCA4):c.982G>T (p.Glu328Ter)
|
rs61751418
|
|
NM_000352.6(ABCC8):c.4412-13G>A
|
rs1008906426
|
|
NM_000352.6(ABCC8):c.598del (p.Thr200fs)
|
rs1591890137
|
|
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp)
|
rs863225280
|
|
NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter)
|
rs1564977373
|
|
NM_000353.3(TAT):c.707-2A>G
|
rs1005382525
|
|
NM_000355.4(TCN2):c.249_255dup (p.Gly86fs)
|
rs1602043738
|
|
NM_000358.3(TGFBI):c.1501C>A (p.Pro501Thr)
|
rs121909212
|
|
NM_000360.4(TH):c.293_295dup (p.Arg98_Ala99insGly)
|
rs1590170978
|
|
NM_000360.4(TH):c.628G>A (p.Ala210Thr)
|
rs1260455415
|
|
NM_000360.4(TH):c.724C>T (p.Leu242Phe)
|
rs1457094087
|
|
NM_000360.4(TH):c.815T>G (p.Leu272Arg)
|
rs775410637
|
|
NM_000363.5(TNNI3):c.12-7del
|
rs370714315
|
|
NM_000363.5(TNNI3):c.130T>G (p.Ser44Ala)
|
rs2147285302
|
|
NM_000368.5(TSC1):c.1029+1G>A
|
rs118203485
|
|
NM_000368.5(TSC1):c.1129T>C (p.Phe377Leu)
|
rs1845926660
|
|
NM_000368.5(TSC1):c.1333+9T>A
|
rs747629498
|
|
NM_000368.5(TSC1):c.1389del (p.Gly464fs)
|
rs1588312765
|
|
NM_000368.5(TSC1):c.1515_1516del (p.Pro506fs)
|
rs281875358
|
|
NM_000368.5(TSC1):c.1997+1G>T
|
rs118203610
|
|
NM_000368.5(TSC1):c.2027G>A (p.Trp676Ter)
|
rs1554815454
|
|
NM_000368.5(TSC1):c.2440del (p.Glu813_Leu814insTer)
|
rs1588299201
|
|
NM_000368.5(TSC1):c.2503-2A>G
|
rs118203704
|
|
NM_000368.5(TSC1):c.2626-3_2626-2insT
|
rs760737807
|
|
NM_000368.5(TSC1):c.461del (p.Phe154fs)
|
rs1588350477
|
|
NM_000368.5(TSC1):c.492G>A (p.Trp164Ter)
|
rs1554819870
|
|
NM_000368.5(TSC1):c.998del (p.Pro333fs)
|
rs1564488773
|
|
NM_000369.5(TSHR):c.1429A>C (p.Thr477Pro)
|
rs1595178231
|
|
NM_000370.3(TTPA):c.172G>C (p.Ala58Pro)
|
rs982650476
|
|
NM_000370.3(TTPA):c.359-3del
|
rs398123340
|
|
NM_000371.4(TTR):c.116C>A (p.Ala39Asp)
|
rs11541795
|
|
NM_000371.4(TTR):c.11A>T (p.His4Leu)
|
rs1157253322
|
|
NM_000371.4(TTR):c.128G>A (p.Ser43Asn)
|
rs1598844112
|
|
NM_000371.4(TTR):c.200G>A (p.Gly67Glu)
|
rs121918090
|
|
NM_000371.4(TTR):c.220G>A (p.Glu74Lys)
|
rs1555631393
|
|
NM_000371.4(TTR):c.265T>C (p.Tyr89His)
|
rs121918100
|
|
NM_000371.4(TTR):c.277A>G (p.Ile93Val)
|
rs1598845164
|
|
NM_000371.4(TTR):c.325G>A (p.Glu109Lys)
|
rs121918082
|
|
NM_000371.4(TTR):c.379A>G (p.Ile127Val)
|
rs121918089
|
|
NM_000374.5(UROD):c.243CAT[1] (p.Ile83del)
|
rs763083464
|
|
NM_000374.5(UROD):c.703C>T (p.Pro235Ser)
|
rs141312224
|
|
NM_000374.5(UROD):c.904C>T (p.Gln302Ter)
|
rs1569967143
|
|
NM_000374.5(UROD):c.995G>A (p.Arg332His)
|
rs121918066
|
|
NM_000376.3(VDR):c.702C>A (p.Val234=)
|
|
|
NM_000377.3(WAS):c.1058del (p.Pro353fs)
|
rs1557007165
|
|
NM_000377.3(WAS):c.190T>C (p.Trp64Arg)
|
rs2147262851
|
|
NM_000377.3(WAS):c.533C>T (p.Pro178Leu)
|
rs2062419034
|
|
NM_000377.3(WAS):c.734+5G>A
|
rs1602178267
|
|
NM_000377.3(WAS):c.881T>C (p.Ile294Thr)
|
rs387906717
|
|
NM_000379.4(XDH):c.2969+66dup
|
rs11408029
|
|
NM_000381.4(MID1):c.757-10756G>A
|
rs2147339071
|
|
NM_000382.3(ALDH3A2):c.608del (p.Pro203fs)
|
|
|
NM_000382.3(ALDH3A2):c.946del (p.Thr316fs)
|
|
|
NM_000383.4(AIRE):c.1095+78del
|
rs5844181
|
|
NM_000383.4(AIRE):c.117del (p.Glu40fs)
|
rs1248788128
|
|
NM_000383.4(AIRE):c.415C>T (p.Arg139Ter)
|
rs121434256
|
|
NM_000384.3(APOB):c.11683A>C (p.Asn3895His)
|
rs2103350346
|
|
NM_000384.3(APOB):c.13392_13393del (p.Lys4465fs)
|
rs2103346437
|
|
NM_000384.3(APOB):c.13477CAG[1] (p.Gln4494del)
|
rs562574661
|
|
NM_000384.3(APOB):c.1468C>T (p.Arg490Trp)
|
rs771541567
|
|
NM_000384.3(APOB):c.1853C>T (p.Ala618Val)
|
|
|
NM_000384.3(APOB):c.2245G>T (p.Asp749Tyr)
|
rs1663700975
|
|
NM_000384.3(APOB):c.3491G>C (p.Arg1164Thr)
|
|
|
NM_000384.3(APOB):c.4651C>T (p.Gln1551Ter)
|
|
|
NM_000384.3(APOB):c.509_515del (p.Thr170fs)
|
rs1572802096
|
|
NM_000384.3(APOB):c.6640G>A (p.Glu2214Lys)
|
rs1239957664
|
|
NM_000384.3(APOB):c.8216C>T (p.Pro2739Leu)
|
|
|
NM_000384.3(APOB):c.9152_9155del (p.Asn3051fs)
|
rs1558562316
|
|
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
|
|
|
NM_000388.4(CASR):c.11A>G (p.Tyr4Cys)
|
rs1171102282
|
|
NM_000388.4(CASR):c.139A>G (p.Lys47Glu)
|
rs2107624989
|
|
NM_000388.4(CASR):c.2153G>T (p.Trp718Leu)
|
rs961879608
|
|
NM_000388.4(CASR):c.2482A>C (p.Thr828Pro)
|
rs794729230
|
|
NM_000388.4(CASR):c.3064G>A (p.Asp1022Asn)
|
rs2107651862
|
|
NM_000388.4(CASR):c.503C>T (p.Ala168Val)
|
rs1576857840
|
|
NM_000390.4(CHM):c.1053_1056dup (p.Asp353fs)
|
rs1603262410
|
|
NM_000390.4(CHM):c.1350-1G>A
|
rs2148153587
|
|
NM_000390.4(CHM):c.1573C>T (p.Gln525Ter)
|
rs1603236385
|
|
NM_000390.4(CHM):c.1645G>C (p.Ala549Pro)
|
rs1603234322
|
|
NM_000390.4(CHM):c.1651_1655del (p.Tyr551fs)
|
rs1924193863
|
|
NM_000390.4(CHM):c.1680del (p.Ser561fs)
|
rs1556207100
|
|
NM_000390.4(CHM):c.29_30del (p.Asp10fs)
|
rs1603288815
|
|
NM_000390.4(CHM):c.437T>G (p.Leu146Ter)
|
rs2147676177
|
|
NM_000390.4(CHM):c.820-2A>G
|
rs1556307713
|
|
NM_000390.4(CHM):c.961del (p.Tyr321fs)
|
rs2147663454
|
|
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp)
|
rs1554901784
|
|
NM_000391.4(TPP1):c.184_185del (p.Ser62fs)
|
rs1554902216
|
|
NM_000391.4(TPP1):c.380+5G>A
|
rs1564855725
|
|
NM_000391.4(TPP1):c.687+1G>C
|
rs1465284719
|
|
NM_000391.4(TPP1):c.899del (p.Gly300fs)
|
rs2134593910
|
|
NM_000393.5(COL5A2):c.4163C>A (p.Thr1388Asn)
|
rs771415085
|
|
NM_000396.4(CTSK):c.243+4A>T
|
rs2101953449
|
|
NM_000396.4(CTSK):c.826C>T (p.His276Tyr)
|
rs1571123333
|
|
NM_000396.4(CTSK):c.83dup (p.Trp29fs)
|
rs2101954034
|
|
NM_000397.4(CYBB):c.1326C>A (p.Tyr442Ter)
|
rs1602184316
|
|
NM_000397.4(CYBB):c.66C>A (p.Asn22Lys)
|
rs193922450
|
|
NM_000398.7(CYB5R3):c.226+2T>C
|
rs1601938489
|
|
NM_000399.5(EGR2):c.1064A>G (p.Asp355Gly)
|
rs1589080611
|
|
NM_000399.5(EGR2):c.1152C>A (p.His384Gln)
|
rs2132702519
|
|
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val)
|
rs138967272
|
|
NM_000400.4(ERCC2):c.1845G>A (p.Gly615=)
|
rs1599725250
|
|
NM_000400.4(ERCC2):c.851del (p.Glu284fs)
|
rs2123288444
|
|
NM_000400.4(ERCC2):c.949+5G>A
|
rs899469885
|
|
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly)
|
rs78478128
|
|
NM_000402.4(G6PD):c.482G>T (p.Gly161Val)
|
rs137852341
|
|
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser)
|
rs137852314
|
|
NM_000402.4(G6PD):c.683G>A (p.Arg228His)
|
rs137852332
|
|
NM_000404.2(GLB1):c.[1285C>T;1097C>A]
|
|
|
NM_000404.4(GLB1):c.1264C>T (p.Leu422Phe)
|
rs2125470035
|
|
NM_000404.4(GLB1):c.1577dup (p.Trp527fs)
|
rs794729217
|
|
NM_000404.4(GLB1):c.395T>C (p.Met132Thr)
|
rs1553612189
|
|
NM_000404.4(GLB1):c.553-2A>T
|
rs2125533195
|
|
NM_000404.4(GLB1):c.591dup (p.Asp198Ter)
|
rs2125533127
|
|
NM_000404.4(GLB1):c.846del (p.Thr283fs)
|
rs1553610382
|
|
NM_000405.5(GM2A):c.333del (p.Cys112fs)
|
rs587779405
|
|
NM_000414.3(HSD17B4):c.[64G>T];[819G>T]
|
|
|
NM_000414.4(HSD17B4):c.1993+1G>A
|
rs1580711803
|
|
NM_000414.4(HSD17B4):c.421C>T (p.Gln141Ter)
|
rs2126696915
|
|
NM_000414.4(HSD17B4):c.532C>T (p.Leu178Phe)
|
rs1307944675
|
|
NM_000416.3(IFNGR1):c.547-42A>T
|
rs1236009877
|
|
NM_000416.3(IFNGR1):c.547-48_547-45del
|
rs1456987322
|
|
NM_000416.3(IFNGR1):c.86-1_93del
|
rs753213766
|
|
NM_000419.5(ITGA2B):c.1374C>G (p.Ile458Met)
|
rs372294932
|
|
NM_000423.3(KRT2):c.1459G>A (p.Glu487Lys)
|
rs137852629
|
|
NM_000424.4(KRT5):c.1427G>A (p.Gly476Asp)
|
rs56922686
|
|
NM_000424.4(KRT5):c.1429G>A (p.Glu477Lys)
|
rs59190510
|
|
NM_000424.4(KRT5):c.579C>A (p.Asn193Lys)
|
rs60586163
|
|
NM_000426.3(LAMA2):c.[2461A>C;8282T>C]
|
|
|
NM_000426.4(LAMA2):c.1255del (p.Ile419fs)
|
rs1185229314
|
|
NM_000426.4(LAMA2):c.1893_1897del (p.Asp631fs)
|
rs746844753
|
|
NM_000426.4(LAMA2):c.2049_2050del (p.Arg683fs)
|
rs202247790
|
|
NM_000426.4(LAMA2):c.3235T>C (p.Cys1079Arg)
|
rs1583469739
|
|
NM_000426.4(LAMA2):c.32T>C (p.Leu11Pro)
|
rs730880252
|
|
NM_000426.4(LAMA2):c.3329del (p.Leu1110fs)
|
rs1583470073
|
|
NM_000426.4(LAMA2):c.3562_3563del (p.Leu1188fs)
|
rs1583475938
|
|
NM_000426.4(LAMA2):c.3955C>T (p.Arg1319Ter)
|
rs1180309541
|
|
NM_000426.4(LAMA2):c.4739dup (p.Leu1581fs)
|
rs1392196900
|
|
NM_000426.4(LAMA2):c.4936G>T (p.Glu1646Ter)
|
rs748541803
|
|
NM_000426.4(LAMA2):c.5290dup (p.Glu1764fs)
|
rs1415944134
|
|
NM_000426.4(LAMA2):c.6196A>T (p.Lys2066Ter)
|
rs1583756552
|
|
NM_000426.4(LAMA2):c.6551T>C (p.Phe2184Ser)
|
rs398123381
|
|
NM_000426.4(LAMA2):c.8556_8558del (p.Ile2852del)
|
rs398123389
|
|
NM_000426.4(LAMA2):c.8613dup (p.Ser2872fs)
|
rs2114900655
|
|
NM_000426.4(LAMA2):c.8714_8715insGTGACG (p.Ser2905delinsArgTer)
|
rs2114910650
|
|
NM_000430.4(PAFAH1B1):c.162del (p.Lys54fs)
|
rs113994198
|
|
NM_000430.4(PAFAH1B1):c.162dup (p.Trp55fs)
|
rs113994198
|
|
NM_000430.4(PAFAH1B1):c.568+2T>C
|
rs2151664151
|
|
NM_000430.4(PAFAH1B1):c.569-10T>C
|
rs113994202
|
|
NM_000431.4(MVK):c.689_690del (p.Leu230fs)
|
rs1593026935
|
|
NM_000432.4(MYL2):c.163G>C (p.Ala55Pro)
|
rs727504425
|
|
NM_000432.4(MYL2):c.3+2T>C
|
rs111373423
|
|
NM_000435.3(NOTCH3):c.1187C>G (p.Ser396Cys)
|
rs863225297
|
|
NM_000435.3(NOTCH3):c.164G>A (p.Cys55Tyr)
|
rs1555730188
|
|
NM_000435.3(NOTCH3):c.1759C>T (p.Arg587Cys)
|
rs754554486
|
|
NM_000435.3(NOTCH3):c.3043T>C (p.Cys1015Arg)
|
rs1599382214
|
|
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys)
|
rs775836288
|
|
NM_000435.3(NOTCH3):c.3309G>A (p.Met1103Ile)
|
rs1237713721
|
|
NM_000435.3(NOTCH3):c.4320C>G (p.Ser1440Arg)
|
rs776057654
|
|
NM_000435.3(NOTCH3):c.457C>T (p.Arg153Cys)
|
rs797045014
|
|
NM_000436.4(OXCT1):c.193G>A (p.Gly65Arg)
|
rs1579903197
|
|
NM_000436.4(OXCT1):c.733-2A>G
|
rs2112279505
|
|
NM_000439.5(PCSK1):c.958G>C (p.Asp320His)
|
rs1580755294
|
|
NM_000440.3(PDE6A):c.1286G>A (p.Trp429Ter)
|
rs1390479623
|
|
NM_000440.3(PDE6A):c.1287G>A (p.Trp429Ter)
|
rs1581180469
|
|
NM_000440.3(PDE6A):c.1674C>G (p.Tyr558Ter)
|
rs375659222
|
|
NM_000440.3(PDE6A):c.1838+1G>A
|
rs2113558095
|
|
NM_000440.3(PDE6A):c.2064del (p.Lys689fs)
|
rs1581164958
|
|
NM_000440.3(PDE6A):c.2377GAG[1] (p.Glu794del)
|
rs767540194
|
|
NM_000441.2(SLC26A4):c.1439T>A (p.Val480Asp)
|
rs1314376649
|
|
NM_000443.4(ABCB4):c.1119+5G>A
|
rs1584750653
|
|
NM_000443.4(ABCB4):c.1210C>G (p.Pro404Ala)
|
rs863225298
|
|
NM_000443.4(ABCB4):c.1322T>G (p.Leu441Arg)
|
rs1584747270
|
|
NM_000443.4(ABCB4):c.1553del (p.Leu518fs)
|
rs1562976061
|
|
NM_000443.4(ABCB4):c.2682+1G>A
|
rs1012575668
|
|
NM_000443.4(ABCB4):c.344+4A>G
|
rs1584768888
|
|
NM_000443.4(ABCB4):c.3659C>A (p.Ala1220Asp)
|
rs2116296479
|
|
NM_000443.4(ABCB4):c.3724dup (p.Ile1242fs)
|
rs1562945221
|
|
NM_000443.4(ABCB4):c.984T>G (p.Tyr328Ter)
|
rs931093296
|
|
NM_000444.6(PHEX):c.101del (p.Gly34fs)
|
rs1602241023
|
|
NM_000444.6(PHEX):c.1037A>G (p.Tyr346Cys)
|
rs1556026033
|
|
NM_000444.6(PHEX):c.1042A>T (p.Lys348Ter)
|
rs773436322
|
|
NM_000444.6(PHEX):c.1044del (p.Asp349fs)
|
rs1556026042
|
|
NM_000444.6(PHEX):c.1046A>G (p.Asp349Gly)
|
rs2147047501
|
|
NM_000444.6(PHEX):c.1102T>C (p.Trp368Arg)
|
rs1602303865
|
|
NM_000444.6(PHEX):c.1157G>A (p.Trp386Ter)
|
rs1602304005
|
|
NM_000444.6(PHEX):c.1173+1G>A
|
rs1064793227
|
|
NM_000444.6(PHEX):c.1174-1G>A
|
rs2147065556
|
|
NM_000444.6(PHEX):c.1208G>A (p.Trp403Ter)
|
rs1602307078
|
|
NM_000444.6(PHEX):c.1215del (p.Lys405fs)
|
rs1602307094
|
|
NM_000444.6(PHEX):c.1217G>A (p.Cys406Tyr)
|
rs1602307107
|
|
NM_000444.6(PHEX):c.1266del (p.Phe422fs)
|
rs2147065739
|
|
NM_000444.6(PHEX):c.1302+2T>A
|
rs2147065825
|
|
NM_000444.6(PHEX):c.1309G>T (p.Glu437Ter)
|
rs1341755128
|
|
NM_000444.6(PHEX):c.1324del (p.Val442fs)
|
rs1602324484
|
|
NM_000444.6(PHEX):c.1331G>A (p.Trp444Ter)
|
rs2147086395
|
|
NM_000444.6(PHEX):c.1402A>T (p.Lys468Ter)
|
rs1602324630
|
|
NM_000444.6(PHEX):c.1404+1G>C
|
rs2147086611
|
|
NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu)
|
rs375593493
|
|
NM_000444.6(PHEX):c.1425del (p.Val476fs)
|
rs1602354302
|
|
NM_000444.6(PHEX):c.1482dup (p.Ile495fs)
|
rs2147118855
|
|
NM_000444.6(PHEX):c.1496_1497insTCA (p.Glu499delinsAspGln)
|
rs1602363343
|
|
NM_000444.6(PHEX):c.1515_1532del (p.Asn505_Arg510del)
|
rs2147128134
|
|
NM_000444.6(PHEX):c.1586+2T>G
|
rs1057518377
|
|
NM_000444.6(PHEX):c.1586+3_1586+6del
|
rs886042234
|
|
NM_000444.6(PHEX):c.1586+5G>A
|
rs1602363550
|
|
NM_000444.6(PHEX):c.1601C>T (p.Pro534Leu)
|
rs886041363
|
|
NM_000444.6(PHEX):c.1646-2A>C
|
rs2147164011
|
|
NM_000444.6(PHEX):c.1646-2A>G
|
rs2147164011
|
|
NM_000444.6(PHEX):c.1646G>C (p.Arg549Pro)
|
rs1602395717
|
|
NM_000444.6(PHEX):c.1706T>C (p.Leu569Pro)
|
rs1556135242
|
|
NM_000444.6(PHEX):c.1714G>T (p.Gly572Cys)
|
rs1064795106
|
|
NM_000444.6(PHEX):c.1718C>T (p.Ala573Val)
|
rs1556135308
|
|
NM_000444.6(PHEX):c.1718del (p.Ala573fs)
|
rs2147171155
|
|
NM_000444.6(PHEX):c.1741G>T (p.Glu581Ter)
|
rs1602402229
|
|
NM_000444.6(PHEX):c.1750C>T (p.His584Tyr)
|
rs1602402258
|
|
NM_000444.6(PHEX):c.1768+1G>A
|
rs886041296
|
|
NM_000444.6(PHEX):c.1769-1G>A
|
rs1602405079
|
|
NM_000444.6(PHEX):c.1769-1G>C
|
rs1602405079
|
|
NM_000444.6(PHEX):c.1769-1G>T
|
rs1602405079
|
|
NM_000444.6(PHEX):c.1775_1778dup (p.Tyr593Ter)
|
rs1556138407
|
|
NM_000444.6(PHEX):c.1779T>A (p.Tyr593Ter)
|
rs1935269189
|
|
NM_000444.6(PHEX):c.1809dup (p.Ser604fs)
|
rs1602405176
|
|
NM_000444.6(PHEX):c.1825G>T (p.Glu609Ter)
|
rs1602405239
|
|
NM_000444.6(PHEX):c.1840A>T (p.Lys614Ter)
|
rs2147174526
|
|
NM_000444.6(PHEX):c.1854_1857dup (p.Asn620delinsAspTer)
|
rs886041367
|
|
NM_000444.6(PHEX):c.1859_1862dup (p.Tyr622fs)
|
rs2147174569
|
|
NM_000444.6(PHEX):c.185dup (p.Ala63fs)
|
rs1602244836
|
|
NM_000444.6(PHEX):c.1862A>C (p.Gln621Pro)
|
rs1602405293
|
|
NM_000444.6(PHEX):c.187+1G>C
|
rs1556012100
|
|
NM_000444.6(PHEX):c.188-1G>C
|
rs1927567325
|
|
NM_000444.6(PHEX):c.1899+1G>A
|
rs1556138769
|
|
NM_000444.6(PHEX):c.1899+2T>G
|
rs1602405375
|
|
NM_000444.6(PHEX):c.1951_1962dup (p.Glu652_Arg655dup)
|
rs1602411514
|
|
NM_000444.6(PHEX):c.1986_1989dup (p.Arg664Ter)
|
rs1556151137
|
|
NM_000444.6(PHEX):c.2005_2016del (p.Glu669_Leu672del)
|
rs1602412679
|
|
NM_000444.6(PHEX):c.200T>A (p.Leu67Ter)
|
rs2146987638
|
|
NM_000444.6(PHEX):c.2060_2063dup (p.Tyr688Ter)
|
rs886041372
|
|
NM_000444.6(PHEX):c.2071-1G>C
|
rs886041374
|
|
NM_000444.6(PHEX):c.2078G>C (p.Cys693Ser)
|
rs1556200989
|
|
NM_000444.6(PHEX):c.2079C>G (p.Cys693Trp)
|
rs1064796845
|
|
NM_000444.6(PHEX):c.2092_2096del (p.Pro698fs)
|
rs2147213985
|
|
NM_000444.6(PHEX):c.20_21del (p.Ser7fs)
|
rs1602240926
|
|
NM_000444.6(PHEX):c.2125del (p.Ala709fs)
|
rs1602439597
|
|
NM_000444.6(PHEX):c.2132G>T (p.Ser711Ile)
|
rs2147214114
|
|
NM_000444.6(PHEX):c.2133T>G (p.Ser711Arg)
|
rs1602439611
|
|
NM_000444.6(PHEX):c.2139del (p.Gln714fs)
|
rs2147214136
|
|
NM_000444.6(PHEX):c.2147+2T>G
|
rs1602439662
|
|
NM_000444.6(PHEX):c.2198G>T (p.Cys733Phe)
|
rs1057517981
|
|
NM_000444.6(PHEX):c.2236T>C (p.Cys746Arg)
|
rs1602442819
|
|
NM_000444.6(PHEX):c.2249A>G (p.Ter750Trp)
|
rs1602442871
|
|
NM_000444.6(PHEX):c.254G>C (p.Cys85Ser)
|
rs137853269
|
|
NM_000444.6(PHEX):c.254G>T (p.Cys85Phe)
|
rs137853269
|
|
NM_000444.6(PHEX):c.305G>T (p.Gly102Val)
|
rs2146987874
|
|
NM_000444.6(PHEX):c.332_334del (p.Val111del)
|
rs1064795949
|
|
NM_000444.6(PHEX):c.349+1G>A
|
rs193922459
|
|
NM_000444.6(PHEX):c.367_370del (p.Ile123fs)
|
rs1602273769
|
|
NM_000444.6(PHEX):c.37_38del (p.Lys13fs)
|
rs2146974254
|
|
NM_000444.6(PHEX):c.3G>A (p.Met1Ile)
|
rs1926865530
|
|
NM_000444.6(PHEX):c.421T>C (p.Ser141Pro)
|
rs2147019252
|
|
NM_000444.6(PHEX):c.422C>T (p.Ser141Phe)
|
rs1602273900
|
|
NM_000444.6(PHEX):c.436+4A>T
|
rs1057520344
|
|
NM_000444.6(PHEX):c.436+5G>T
|
rs1602273945
|
|
NM_000444.6(PHEX):c.460A>T (p.Lys154Ter)
|
rs1929202828
|
|
NM_000444.6(PHEX):c.468del (p.Leu157fs)
|
rs2147020412
|
|
NM_000444.6(PHEX):c.535del (p.Val179fs)
|
rs2147020604
|
|
NM_000444.6(PHEX):c.540G>A (p.Trp180Ter)
|
rs1602274883
|
|
NM_000444.6(PHEX):c.559del (p.Leu187fs)
|
rs1602274893
|
|
NM_000444.6(PHEX):c.582del (p.Arg195fs)
|
rs1602274929
|
|
NM_000444.6(PHEX):c.591A>G (p.Gln197=)
|
rs1556020818
|
|
NM_000444.6(PHEX):c.593del (p.Tyr198fs)
|
rs1602274950
|
|
NM_000444.6(PHEX):c.621T>G (p.Tyr207Ter)
|
rs771208171
|
|
NM_000444.6(PHEX):c.663G>A (p.Lys221=)
|
rs1929220357
|
|
NM_000444.6(PHEX):c.664-1G>T
|
rs886041529
|
|
NM_000444.6(PHEX):c.673del (p.Ala225fs)
|
rs2147035468
|
|
NM_000444.6(PHEX):c.705C>A (p.Tyr235Ter)
|
rs2147035526
|
|
NM_000444.6(PHEX):c.732+3_732+6del
|
rs2147035589
|
|
NM_000444.6(PHEX):c.733-1G>C
|
rs886041223
|
|
NM_000444.6(PHEX):c.7_8dup (p.Glu4fs)
|
rs1602240890
|
|
NM_000444.6(PHEX):c.849_849+2del
|
rs1602288211
|
|
NM_000444.6(PHEX):c.865G>T (p.Glu289Ter)
|
rs1602290398
|
|
NM_000444.6(PHEX):c.933+2T>A
|
rs2147043777
|
|
NM_000444.6(PHEX):c.934-1G>T
|
rs1602292528
|
|
NM_000444.6(PHEX):c.955AAG[1] (p.Lys320del)
|
rs1556025968
|
|
NM_000444.6(PHEX):c.961G>T (p.Val321Phe)
|
rs1556025976
|
|
NM_000444.6(PHEX):c.985del (p.His329fs)
|
rs1556025994
|
|
NM_000447.3(PSEN2):c.140G>A (p.Trp47Ter)
|
rs1412682521
|
|
NM_000448.3(RAG1):c.2332C>T (p.Arg778Trp)
|
rs752020152
|
|
NM_000448.3(RAG1):c.360_367del (p.Asp121fs)
|
rs1590701881
|
|
NM_000451.4(SHOX):c.-19G>A
|
rs201157428
|
|
NM_000451.4(SHOX):c.334C>T (p.Gln112Ter)
|
rs1425206026
|
|
NM_000451.4(SHOX):c.397G>A (p.Glu133Lys)
|
rs767349016
|
|
NM_000451.4(SHOX):c.463G>C (p.Gly155Arg)
|
rs765251991
|
|
NM_000451.4(SHOX):c.479G>C (p.Arg160Pro)
|
rs1159449478
|
|
NM_000451.4(SHOX):c.518G>A (p.Arg173His)
|
rs746801054
|
|
NM_000451.4(SHOX):c.616C>T (p.Arg206Trp)
|
rs773859404
|
|
NM_000451.4(SHOX):c.66AGGCGG[3] (p.Gly27_Gly28dup)
|
rs747349135
|
|
NM_000451.4(SHOX):c.670G>A (p.Ala224Thr)
|
rs2052925859
|
|
NM_000451.4(SHOX):c.673CACCCGCACCTG[1] (p.225HPHL[1])
|
rs752208304
|
|
NM_000451.4(SHOX):c.673CACCCGCACCTG[3] (p.225HPHL[3])
|
rs752208304
|
|
NM_000451.4(SHOX):c.728del (p.Pro243fs)
|
rs757845999
|
|
NM_000451.4(SHOX):c.728dup (p.Pro244fs)
|
rs757845999
|
|
NM_000451.4(SHOX):c.805del (p.Ser269fs)
|
rs1569495224
|
|
NM_000454.5(SOD1):c.413C>T (p.Thr138Ile)
|
rs1568811454
|
|
NM_000454.5(SOD1):c.449T>A (p.Ile150Asn)
|
rs1424014997
|
|
NM_000455.5(STK11):c.*16+6G>A
|
rs2145436787
|
|
NM_000455.5(STK11):c.*16+8_*16+17dup
|
rs1453954065
|
|
NM_000455.5(STK11):c.*17-6C>G
|
rs866505758
|
|
NM_000455.5(STK11):c.-107dup
|
rs927999961
|
|
NM_000455.5(STK11):c.-280C>A
|
rs893914050
|
|
NM_000455.5(STK11):c.-551C>T
|
rs1316450313
|
|
NM_000455.5(STK11):c.-95G>T
|
rs1323638467
|
|
NM_000455.5(STK11):c.-99C>T
|
rs1407068597
|
|
NM_000455.5(STK11):c.1055A>T (p.Asp352Val)
|
rs2145431252
|
|
NM_000455.5(STK11):c.1087A>G (p.Thr363Ala)
|
rs764458789
|
|
NM_000455.5(STK11):c.1108G>C (p.Gly370Arg)
|
rs747655835
|
|
NM_000455.5(STK11):c.1128G>T (p.Glu376Asp)
|
rs747018506
|
|
NM_000455.5(STK11):c.1178A>G (p.Asn393Ser)
|
rs1060499965
|
|
NM_000455.5(STK11):c.1180G>A (p.Gly394Ser)
|
rs768780695
|
|
NM_000455.5(STK11):c.1225C>T (p.Arg409Trp)
|
rs368466538
|
|
NM_000455.5(STK11):c.188T>C (p.Val63Ala)
|
rs1568690276
|
|
NM_000455.5(STK11):c.217T>C (p.Cys73Arg)
|
rs1568690354
|
|
NM_000455.5(STK11):c.375-13C>T
|
rs1568705244
|
|
NM_000455.5(STK11):c.458C>A (p.Ala153Asp)
|
rs1555737824
|
|
NM_000455.5(STK11):c.465-4G>A
|
rs587780009
|
|
NM_000455.5(STK11):c.617C>T (p.Ala206Val)
|
rs764244639
|
|
NM_000455.5(STK11):c.784A>T (p.Lys262Ter)
|
rs2145426930
|
|
NM_000455.5(STK11):c.82dup (p.Arg28fs)
|
rs1568689930
|
|
NM_000455.5(STK11):c.843dup (p.Leu282fs)
|
rs1131690949
|
|
NM_000455.5(STK11):c.863-5C>T
|
rs1599928248
|
|
NM_000455.5(STK11):c.920+1G>A
|
rs1131690920
|
|
NM_000455.5(STK11):c.970C>T (p.Pro324Ser)
|
rs549474196
|
|
NM_000458.4(HNF1B):c.1441C>G (p.Pro481Ala)
|
rs2147446997
|
|
NM_000458.4(HNF1B):c.254A>G (p.Asp85Gly)
|
rs984116301
|
|
NM_000459.5(TEK):c.2228G>C (p.Gly743Ala)
|
rs202131936
|
|
NM_000463.3(UGT1A1):c.1304+1G>T
|
rs2126038220
|
|
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.-107G>T
|
rs1574870750
|
|
NM_000465.4(BARD1):c.1002G>T (p.Lys334Asn)
|
rs1574818027
|
|
NM_000465.4(BARD1):c.1045A>C (p.Lys349Gln)
|
rs1401955290
|
|
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del)
|
rs28997575
|
|
NM_000465.4(BARD1):c.1136A>C (p.Lys379Thr)
|
rs750827325
|
|
NM_000465.4(BARD1):c.1288A>G (p.Thr430Ala)
|
rs1574815970
|
|
NM_000465.4(BARD1):c.1297C>T (p.His433Tyr)
|
rs1574815914
|
|
NM_000465.4(BARD1):c.1314+5G>A
|
rs868089048
|
|
NM_000465.4(BARD1):c.1335A>C (p.Glu445Asp)
|
rs1574792945
|
|
NM_000465.4(BARD1):c.1349dup (p.Asn450fs)
|
rs876660390
|
|
NM_000465.4(BARD1):c.1376A>G (p.His459Arg)
|
rs587781621
|
|
NM_000465.4(BARD1):c.1564G>T (p.Ala522Ser)
|
rs730881419
|
|
NM_000465.4(BARD1):c.1610A>G (p.Glu537Gly)
|
rs1553616390
|
|
NM_000465.4(BARD1):c.1662T>C (p.Ala554=)
|
rs1402521170
|
|
NM_000465.4(BARD1):c.1754T>C (p.Leu585Pro)
|
rs786201905
|
|
NM_000465.4(BARD1):c.1758del (p.Ser586fs)
|
rs1559387024
|
|
NM_000465.4(BARD1):c.176_177del (p.Glu59fs)
|
rs1057517589
|
|
NM_000465.4(BARD1):c.1788del (p.Lys596fs)
|
rs1574739005
|
|
NM_000465.4(BARD1):c.1816C>T (p.His606Tyr)
|
rs1559386300
|
|
NM_000465.4(BARD1):c.1886G>T (p.Trp629Leu)
|
rs747446711
|
|
NM_000465.4(BARD1):c.1904-626G>T
|
rs1172986637
|
|
NM_000465.4(BARD1):c.1906G>A (p.Val636Ile)
|
rs1553612541
|
|
NM_000465.4(BARD1):c.1955A>G (p.Glu652Gly)
|
rs876658395
|
|
NM_000465.4(BARD1):c.2125C>T (p.Pro709Ser)
|
rs1040231633
|
|
NM_000465.4(BARD1):c.216-12A>T
|
rs199846428
|
|
NM_000465.4(BARD1):c.216-13_216-12del
|
rs1491038786
|
|
NM_000465.4(BARD1):c.2165A>G (p.Tyr722Cys)
|
rs2105987106
|
|
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly)
|
rs76744638
|
|
NM_000465.4(BARD1):c.2192G>A (p.Arg731His)
|
rs587782248
|
|
NM_000465.4(BARD1):c.2206T>C (p.Tyr736His)
|
rs1559371905
|
|
NM_000465.4(BARD1):c.2216A>G (p.Tyr739Cys)
|
rs777013688
|
|
NM_000465.4(BARD1):c.491A>C (p.Gln164Pro)
|
rs980413835
|
|
NM_000465.4(BARD1):c.53A>T (p.Asn18Ile)
|
rs1064793727
|
|
NM_000465.4(BARD1):c.565G>A (p.Ala189Thr)
|
rs786202110
|
|
NM_000465.4(BARD1):c.675A>T (p.Glu225Asp)
|
rs1559425348
|
|
NM_000465.4(BARD1):c.69_70insAACGAGCCTCGTTCCG (p.Pro24fs)
|
rs2106171546
|
|
NM_000465.4(BARD1):c.752G>A (p.Ser251Asn)
|
rs1553622477
|
|
NM_000465.4(BARD1):c.769G>A (p.Glu257Lys)
|
rs587782673
|
|
NM_000465.4(BARD1):c.7G>T (p.Asp3Tyr)
|
rs1060501282
|
|
NM_000465.4(BARD1):c.994A>T (p.Ile332Phe)
|
rs543606863
|
|
NM_000474.4(TWIST1):c.193G>T (p.Glu65Ter)
|
rs1449444508
|
|
NM_000474.4(TWIST1):c.309C>G (p.Tyr103Ter)
|
rs104894054
|
|
NM_000474.4(TWIST1):c.365A>G (p.Gln122Arg)
|
rs2115396737
|
|
NM_000481.4(AMT):c.311G>A (p.Gly104Glu)
|
rs753221440
|
|
NM_000481.4(AMT):c.478del (p.Val160fs)
|
rs1575305901
|
|
NM_000481.4(AMT):c.908del (p.Pro303fs)
|
rs1575303218
|
|
NM_000484.4(APP):c.2140A>G (p.Thr714Ala)
|
rs63750643
|
|
NM_000487.6(ARSA):c.1228dup (p.Thr410fs)
|
rs2146716994
|
|
NM_000487.6(ARSA):c.13del (p.Ala5fs)
|
rs919125796
|
|
NM_000487.6(ARSA):c.755C>A (p.Ser252Tyr)
|
rs199476367
|
|
NM_000489.6(ATRX):c.4253G>C (p.Ser1418Thr)
|
rs2148451092
|
|
NM_000489.6(ATRX):c.5124G>T (p.Leu1708Phe)
|
rs1602978896
|
|
NM_000489.6(ATRX):c.5405A>C (p.Lys1802Thr)
|
rs1602876401
|
|
NM_000489.6(ATRX):c.6104A>G (p.Asp2035Gly)
|
rs122445096
|
|
NM_000489.6(ATRX):c.729C>G (p.Cys243Trp)
|
rs1057524153
|
|
NM_000492.3(CFTR):c.(1)_(4374+1_4375-1)del
|
|
|
NM_000492.3(CFTR):c.(1341+1_1342-1)_(1716+1_1717-1)del
|
|
|
NM_000492.3(CFTR):c.(1341+1_1342-1)_(4095+1_4096-1)dup
|
|
|
NM_000492.3(CFTR):c.(3120+1_3121-1)_(3499+1_3500-1)del
|
|
|
NM_000492.3(CFTR):c.(3468+1_3469-1)_(3963+1_3964-1)del
|
|
|
NM_000492.3(CFTR):c.(3499+1_3500-1)_(6132)del
|
|
|
NM_000492.3(CFTR):c.(405+1_406-1)_(6132)del
|
|
|
NM_000492.3(CFTR):c.1210-12T[5]
|
rs1805177
|
|
NM_000492.3(CFTR):c.1210-12T[9]
|
rs1805177
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs)
|
rs746418935
|
|
NM_000492.3(CFTR):c.2989_3139del151
|
rs1562914028
|
|
NM_000492.3(CFTR):c.3468+2dup
|
rs1554392800
|
|
NM_000492.3(CFTR):c.54-5940_273+10250del
|
|
|
NM_000492.3(CFTR):c.54_164del111
|
rs1562882675
|
|
NM_000492.4(CFTR):c.-9_14del (p.Met1fs)
|
rs397508136
|
|
NM_000492.4(CFTR):c.1007T>A (p.Ile336Lys)
|
rs397508139
|
|
NM_000492.4(CFTR):c.100_117del (p.Leu34_Gln39del)
|
rs397508141
|
|
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro)
|
rs77932196
|
|
NM_000492.4(CFTR):c.1045G>C (p.Ala349Pro)
|
rs1562892293
|
|
NM_000492.4(CFTR):c.1052C>G (p.Thr351Ser)
|
rs1800086
|
|
NM_000492.4(CFTR):c.1066_1071del (p.Trp356_Ala357del)
|
rs2116684480
|
|
NM_000492.4(CFTR):c.1075C>A (p.Gln359Lys)
|
rs76879328
|
|
NM_000492.4(CFTR):c.1084_1088dup (p.Ser364fs)
|
rs1562892359
|
|
NM_000492.4(CFTR):c.1115del (p.Gln372fs)
|
rs1562892387
|
|
NM_000492.4(CFTR):c.1116+1G>A
|
rs397508158
|
|
NM_000492.4(CFTR):c.1116+1G>T
|
rs397508158
|
|
NM_000492.4(CFTR):c.1126C>T (p.Gln376Ter)
|
rs1562892823
|
|
NM_000492.4(CFTR):c.1135G>A (p.Glu379Lys)
|
rs397508165
|
|
NM_000492.4(CFTR):c.1197del (p.Phe400fs)
|
rs1562892895
|
|
NM_000492.4(CFTR):c.11C>A (p.Ser4Ter)
|
rs397508173
|
|
NM_000492.4(CFTR):c.1209+1G>T
|
rs397508176
|
|
NM_000492.4(CFTR):c.1211_1392+1del
|
rs1562894928
|
|
NM_000492.4(CFTR):c.1211del
|
rs1235397597
|
|
NM_000492.4(CFTR):c.1227_1228del (p.Phe409fs)
|
rs2115902766
|
|
NM_000492.4(CFTR):c.1234_1238del (p.Ala412fs)
|
rs3034796
|
|
NM_000492.4(CFTR):c.1279A>C (p.Ser427Arg)
|
rs1584793492
|
|
NM_000492.4(CFTR):c.1301C>A (p.Ser434Ter)
|
rs367934560
|
|
NM_000492.4(CFTR):c.1301C>G (p.Ser434Ter)
|
rs367934560
|
|
NM_000492.4(CFTR):c.1317T>G (p.Pro439=)
|
rs1562895052
|
|
NM_000492.4(CFTR):c.1343_1350del (p.Ile448fs)
|
rs2115903582
|
|
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)
|
rs74551128
|
|
NM_000492.4(CFTR):c.1365_1366del (p.Val456fs)
|
rs797045161
|
|
NM_000492.4(CFTR):c.1409_1418del (p.Val470fs)
|
rs397508204
|
|
NM_000492.4(CFTR):c.147_150del (p.Ser50fs)
|
rs1562882755
|
|
NM_000492.4(CFTR):c.1486del (p.Trp496fs)
|
rs1584798316
|
|
NM_000492.4(CFTR):c.1505T>G (p.Ile502Ser)
|
rs397508222
|
|
NM_000492.4(CFTR):c.1510G>T (p.Glu504Ter)
|
rs397508223
|
|
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del)
|
rs121908745
|
|
NM_000492.4(CFTR):c.1525G>C (p.Gly509Arg)
|
rs1562898465
|
|
NM_000492.4(CFTR):c.1530_1531del (p.Ser511fs)
|
rs1562898471
|
|
NM_000492.4(CFTR):c.1546_1548delinsT (p.Arg516fs)
|
rs1562898489
|
|
NM_000492.4(CFTR):c.1547_1548del (p.Arg516fs)
|
rs1562898489
|
|
NM_000492.4(CFTR):c.1550A>G (p.Tyr517Cys)
|
rs1562898496
|
|
NM_000492.4(CFTR):c.1558G>A (p.Val520Ile)
|
rs77646904
|
|
NM_000492.4(CFTR):c.1559T>A (p.Val520Asp)
|
rs1562898510
|
|
NM_000492.4(CFTR):c.1585-8G>A
|
rs193922503
|
|
NM_000492.4(CFTR):c.1586_1679+1del
|
rs1562906265
|
|
NM_000492.4(CFTR):c.164+2dup
|
rs1554375870
|
|
NM_000492.4(CFTR):c.1645A>C (p.Ser549Arg)
|
rs121908757
|
|
NM_000492.4(CFTR):c.1647T>A (p.Ser549Arg)
|
rs121909005
|
|
NM_000492.4(CFTR):c.1651G>A (p.Gly551Ser)
|
rs121909013
|
|
NM_000492.4(CFTR):c.1654C>A (p.Gln552Lys)
|
rs76554633
|
|
NM_000492.4(CFTR):c.1654C>T (p.Gln552Ter)
|
rs76554633
|
|
NM_000492.4(CFTR):c.1656del (p.Gln552fs)
|
rs397508253
|
|
NM_000492.4(CFTR):c.166G>T (p.Glu56Ter)
|
rs397508256
|
|
NM_000492.4(CFTR):c.1679+1G>A
|
rs397508263
|
|
NM_000492.4(CFTR):c.1682C>T (p.Ala561Val)
|
rs121909047
|
|
NM_000492.4(CFTR):c.1684G>A (p.Val562Ile)
|
rs1800097
|
|
NM_000492.4(CFTR):c.1687T>C (p.Tyr563His)
|
rs121909006
|
|
NM_000492.4(CFTR):c.169T>G (p.Trp57Gly)
|
rs397508272
|
|
NM_000492.4(CFTR):c.1706A>G (p.Tyr569Cys)
|
rs397508277
|
|
NM_000492.4(CFTR):c.1736A>G (p.Asp579Gly)
|
rs397508288
|
|
NM_000492.4(CFTR):c.1760T>C (p.Phe587Ser)
|
rs1562907260
|
|
NM_000492.4(CFTR):c.1766+3A>C
|
rs397508298
|
|
NM_000492.4(CFTR):c.1936G>T (p.Gly646Ter)
|
rs1562907873
|
|
NM_000492.4(CFTR):c.2012del (p.Ser670_Leu671insTer)
|
rs121908812
|
|
NM_000492.4(CFTR):c.2051_2052dup (p.Gln685fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2052del (p.Lys684fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2052dup (p.Gln685fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2089del (p.Arg697fs)
|
rs397508341
|
|
NM_000492.4(CFTR):c.2143C>T (p.Gln715Ter)
|
rs397508343
|
|
NM_000492.4(CFTR):c.2195T>G (p.Leu732Ter)
|
rs397508350
|
|
NM_000492.4(CFTR):c.2215del (p.Val739fs)
|
rs397508353
|
|
NM_000492.4(CFTR):c.2278dup (p.Thr760fs)
|
rs2116032755
|
|
NM_000492.4(CFTR):c.2374C>T (p.Arg792Ter)
|
rs145449046
|
|
NM_000492.4(CFTR):c.243del (p.Phe81fs)
|
rs1562884046
|
|
NM_000492.4(CFTR):c.2476G>T (p.Glu826Ter)
|
rs397508381
|
|
NM_000492.4(CFTR):c.2492_2619+1del
|
rs1562908889
|
|
NM_000492.4(CFTR):c.254G>T (p.Gly85Val)
|
rs75961395
|
|
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter)
|
rs121909012
|
|
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu)
|
rs397508395
|
|
NM_000492.4(CFTR):c.2583del (p.Phe861fs)
|
rs397508399
|
|
NM_000492.4(CFTR):c.262_263del (p.Leu88fs)
|
rs121908769
|
|
NM_000492.4(CFTR):c.2658-2A>G
|
rs1554390958
|
|
NM_000492.4(CFTR):c.2706C>G (p.Ser902Arg)
|
rs397508422
|
|
NM_000492.4(CFTR):c.2735C>A (p.Ser912Ter)
|
rs121909034
|
|
NM_000492.4(CFTR):c.2737_2738insG (p.Tyr913Ter)
|
rs121908788
|
|
NM_000492.4(CFTR):c.274-2A>C
|
rs397508426
|
|
NM_000492.4(CFTR):c.274G>T (p.Glu92Ter)
|
rs121908751
|
|
NM_000492.4(CFTR):c.275_489+1del
|
rs1562889180
|
|
NM_000492.4(CFTR):c.275_579+1del
|
|
|
NM_000492.4(CFTR):c.2812dup (p.Val938fs)
|
rs1562911661
|
|
NM_000492.4(CFTR):c.2859_2890del (p.Leu953fs)
|
rs397508445
|
|
NM_000492.4(CFTR):c.2879_2882del (p.Pro960fs)
|
rs1562911739
|
|
NM_000492.4(CFTR):c.2908G>A (p.Gly970Ser)
|
rs397508453
|
|
NM_000492.4(CFTR):c.2911_3367+2del
|
|
|
NM_000492.4(CFTR):c.2918T>C (p.Leu973Pro)
|
rs397508460
|
|
NM_000492.4(CFTR):c.2988+2T>G
|
rs1792307406
|
|
NM_000492.4(CFTR):c.2989-1G>A
|
rs397508470
|
|
NM_000492.4(CFTR):c.2989-3C>G
|
rs397508471
|
|
NM_000492.4(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer)
|
rs397508472
|
|
NM_000492.4(CFTR):c.2T>G (p.Met1Arg)
|
rs397508476
|
|
NM_000492.4(CFTR):c.3001G>A (p.Val1001Met)
|
rs193922731
|
|
NM_000492.4(CFTR):c.3002_3003del (p.Val1001fs)
|
rs397508477
|
|
NM_000492.4(CFTR):c.3011del (p.Ala1004fs)
|
rs1562914082
|
|
NM_000492.4(CFTR):c.3032T>G (p.Leu1011Ter)
|
rs1562914107
|
|
NM_000492.4(CFTR):c.3039del (p.Tyr1014fs)
|
rs121908781
|
|
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del)
|
rs121908767
|
|
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile)
|
rs397508498
|
|
NM_000492.4(CFTR):c.3110C>A (p.Ser1037Ter)
|
rs1562914200
|
|
NM_000492.4(CFTR):c.3114_3116dup (p.Gln1039dup)
|
rs1469768894
|
|
NM_000492.4(CFTR):c.3118C>T (p.Leu1040Phe)
|
rs1562914212
|
|
NM_000492.4(CFTR):c.3122A>G (p.Lys1041Arg)
|
rs1562914220
|
|
NM_000492.4(CFTR):c.3134C>T (p.Ser1045Phe)
|
rs1584821736
|
|
NM_000492.4(CFTR):c.3139G>T (p.Gly1047Cys)
|
rs397508504
|
|
NM_000492.4(CFTR):c.3141_3468+1del
|
|
|
NM_000492.4(CFTR):c.3160C>G (p.His1054Asp)
|
rs397508510
|
|
NM_000492.4(CFTR):c.3188G>A (p.Trp1063Ter)
|
rs1562914641
|
|
NM_000492.4(CFTR):c.319G>C (p.Ala107Pro)
|
rs1562889219
|
|
NM_000492.4(CFTR):c.3231_3232del (p.Phe1078fs)
|
rs779177972
|
|
NM_000492.4(CFTR):c.3257C>T (p.Thr1086Ile)
|
rs77958296
|
|
NM_000492.4(CFTR):c.326A>G (p.Tyr109Cys)
|
rs121909031
|
|
NM_000492.4(CFTR):c.328G>C (p.Asp110His)
|
rs113993958
|
|
NM_000492.4(CFTR):c.3294G>T (p.Trp1098Cys)
|
rs397508533
|
|
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro)
|
rs397508535
|
|
NM_000492.4(CFTR):c.3301del (p.Gln1100_Met1101insTer)
|
rs2116085156
|
|
NM_000492.4(CFTR):c.3328TTC[1] (p.Phe1111del)
|
rs1562914829
|
|
NM_000492.4(CFTR):c.3343dup (p.Thr1115fs)
|
rs1562914838
|
|
NM_000492.4(CFTR):c.3367+1G>A
|
rs1470125842
|
|
NM_000492.4(CFTR):c.3367+2T>A
|
rs397508544
|
|
NM_000492.4(CFTR):c.3368-2A>G
|
rs755416052
|
|
NM_000492.4(CFTR):c.3410T>G (p.Met1137Arg)
|
rs397508555
|
|
NM_000492.4(CFTR):c.3421_3424dup (p.Thr1142fs)
|
rs397508559
|
|
NM_000492.4(CFTR):c.3486_3487del (p.Val1163fs)
|
rs397508575
|
|
NM_000492.4(CFTR):c.349C>T (p.Arg117Cys)
|
rs77834169
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_000492.4(CFTR):c.3528del (p.Lys1177fs)
|
rs78984783
|
|
NM_000492.4(CFTR):c.3532_3535dup (p.Thr1179fs)
|
rs387906378
|
|
NM_000492.4(CFTR):c.3569_3570del (p.Val1190fs)
|
rs1562919371
|
|
NM_000492.4(CFTR):c.3639dup (p.Asp1214fs)
|
rs2116129829
|
|
NM_000492.4(CFTR):c.3700A>G (p.Ile1234Val)
|
rs75389940
|
|
NM_000492.4(CFTR):c.3728T>A (p.Leu1243Ter)
|
rs1562923164
|
|
NM_000492.4(CFTR):c.3739G>A (p.Gly1247Arg)
|
rs397508601
|
|
NM_000492.4(CFTR):c.3745G>C (p.Gly1249Arg)
|
rs397508602
|
|
NM_000492.4(CFTR):c.3747del (p.Lys1250fs)
|
rs797045159
|
|
NM_000492.4(CFTR):c.3763T>C (p.Ser1255Pro)
|
rs121909041
|
|
NM_000492.4(CFTR):c.3764C>A (p.Ser1255Ter)
|
rs76649725
|
|
NM_000492.4(CFTR):c.3794G>T (p.Gly1265Val)
|
rs1554395370
|
|
NM_000492.4(CFTR):c.3841C>T (p.Gln1281Ter)
|
rs397508615
|
|
NM_000492.4(CFTR):c.3844T>G (p.Trp1282Gly)
|
rs397508616
|
|
NM_000492.4(CFTR):c.3873+1G>A
|
rs143570767
|
|
NM_000492.4(CFTR):c.3874-1G>A
|
rs397508624
|
|
NM_000492.4(CFTR):c.3874-8T>A
|
rs397508625
|
|
NM_000492.4(CFTR):c.3889dup (p.Ser1297fs)
|
rs121908808
|
|
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile)
|
rs397508634
|
|
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe)
|
rs397508635
|
|
NM_000492.4(CFTR):c.3907A>T (p.Asn1303Tyr)
|
rs121909042
|
|
NM_000492.4(CFTR):c.3925C>T (p.Gln1309Ter)
|
rs193922732
|
|
NM_000492.4(CFTR):c.3966_4242+2del
|
rs1562928854
|
|
NM_000492.4(CFTR):c.3999del (p.Lys1334fs)
|
rs886042527
|
|
NM_000492.4(CFTR):c.3G>A (p.Met1Ile)
|
rs397508657
|
|
NM_000492.4(CFTR):c.4028del (p.Gly1343fs)
|
rs397508661
|
|
NM_000492.4(CFTR):c.4046G>A (p.Gly1349Asp)
|
rs193922525
|
|
NM_000492.4(CFTR):c.4056G>C (p.Gln1352His)
|
rs113857788
|
|
NM_000492.4(CFTR):c.4061T>G (p.Met1354Arg)
|
rs755993775
|
|
NM_000492.4(CFTR):c.409_412del (p.Leu137fs)
|
rs397508671
|
|
NM_000492.4(CFTR):c.409del (p.Leu137fs)
|
rs397508672
|
|
NM_000492.4(CFTR):c.4124A>C (p.His1375Pro)
|
rs397508678
|
|
NM_000492.4(CFTR):c.4136+1G>A
|
rs1562928997
|
|
NM_000492.4(CFTR):c.4225G>T (p.Glu1409Ter)
|
rs397508699
|
|
NM_000492.4(CFTR):c.4242+5G>A
|
rs1562929196
|
|
NM_000492.4(CFTR):c.4251del (p.Glu1418fs)
|
rs397508706
|
|
NM_000492.4(CFTR):c.4277C>A (p.Ser1426Tyr)
|
rs762847468
|
|
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs)
|
rs397508709
|
|
NM_000492.4(CFTR):c.433del (p.Leu145fs)
|
rs1562889382
|
|
NM_000492.4(CFTR):c.4389del (p.Ile1464fs)
|
rs1584850283
|
|
NM_000492.4(CFTR):c.4400_*34del (p.Leu1467_Ter1481delinsXaa)
|
rs1562929636
|
|
NM_000492.4(CFTR):c.4400del (p.Leu1467fs)
|
rs1562929633
|
|
NM_000492.4(CFTR):c.443T>A (p.Ile148Asn)
|
rs35516286
|
|
NM_000492.4(CFTR):c.449T>G (p.Met150Arg)
|
rs1562889397
|
|
NM_000492.4(CFTR):c.473G>A (p.Ser158Asn)
|
rs397508725
|
|
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu)
|
rs397508731
|
|
NM_000492.4(CFTR):c.488A>C (p.Lys163Thr)
|
rs1562889435
|
|
NM_000492.4(CFTR):c.488del (p.Lys163fs)
|
rs1554379899
|
|
NM_000492.4(CFTR):c.490-1G>T
|
rs397508734
|
|
NM_000492.4(CFTR):c.4C>T (p.Gln2Ter)
|
rs397508740
|
|
NM_000492.4(CFTR):c.4del (p.Gln2fs)
|
rs1562876396
|
|
NM_000492.4(CFTR):c.503C>T (p.Ser168Leu)
|
rs869249241
|
|
NM_000492.4(CFTR):c.51del (p.Phe17fs)
|
rs1317756653
|
|
NM_000492.4(CFTR):c.53+1G>T
|
rs397508746
|
|
NM_000492.4(CFTR):c.532G>C (p.Gly178Arg)
|
rs80282562
|
|
NM_000492.4(CFTR):c.560del (p.Asn187fs)
|
rs1562890223
|
|
NM_000492.4(CFTR):c.577G>A (p.Glu193Lys)
|
rs397508759
|
|
NM_000492.4(CFTR):c.580-1G>T
|
rs121908793
|
|
NM_000492.4(CFTR):c.580-2A>C
|
rs193922730
|
|
NM_000492.4(CFTR):c.658C>T (p.Gln220Ter)
|
rs397508778
|
|
NM_000492.4(CFTR):c.675T>A (p.Cys225Ter)
|
rs397508781
|
|
NM_000492.4(CFTR):c.676G>C (p.Gly226Arg)
|
rs1562890588
|
|
NM_000492.4(CFTR):c.701C>A (p.Ala234Asp)
|
rs769016520
|
|
NM_000492.4(CFTR):c.743+1G>A
|
rs397508791
|
|
NM_000492.4(CFTR):c.861_865del (p.Asn287fs)
|
rs397508805
|
|
NM_000492.4(CFTR):c.863T>G (p.Leu288Ter)
|
rs1584787782
|
|
NM_000492.4(CFTR):c.866_870del (p.Arg289fs)
|
rs1562891084
|
|
NM_000492.4(CFTR):c.869+1G>T
|
rs1330431481
|
|
NM_000492.4(CFTR):c.948del (p.Phe316fs)
|
rs75528968
|
|
NM_000492.4(CFTR):c.950T>A (p.Val317Glu)
|
rs1204521684
|
|
NM_000493.4(COL10A1):c.*6_*7insCCC
|
rs140722
|
|
NM_000493.4(COL10A1):c.1772G>A (p.Cys591Tyr)
|
rs2114278741
|
|
NM_000493.4(COL10A1):c.1948_1953del (p.Val650_Trp651del)
|
rs1582811858
|
|
NM_000493.4(COL10A1):c.757G>A (p.Gly253Ser)
|
rs1779117883
|
|
NM_000494.4(COL17A1):c.2002+2T>G
|
rs1274167395
|
|
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr)
|
rs202242769
|
|
NM_000500.9(CYP21A2):c.1439G>T (p.Arg480Leu)
|
rs184649564
|
|
NM_000500.9(CYP21A2):c.293-13C>G
|
rs6467
|
|
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)
|
rs6471
|
|
NM_000500.9(CYP21A2):c.923del (p.Leu308fs)
|
rs267606756
|
|
NM_000501.4(ELN):c.1489_1506del (p.Leu497_Gly502del)
|
rs782393234
|
|
NM_000501.4(ELN):c.2161del (p.Arg721fs)
|
rs794729201
|
|
NM_000507.4(FBP1):c.611_614del (p.Lys204fs)
|
rs761470205
|
|
NM_000507.4(FBP1):c.986T>C (p.Leu329Pro)
|
rs1248299502
|
|
NM_000508.5(FGA):c.2113G>T (p.Gly705Ter)
|
rs1404896169
|
|
NM_000508.5(FGA):c.2587del (p.Leu863_Val864insTer)
|
rs773678959
|
|
NM_000512.5(GALNS):c.121-3C>T
|
rs1211862895
|
|
NM_000512.5(GALNS):c.1243-2A>C
|
rs2142992422
|
|
NM_000512.5(GALNS):c.1493C>T (p.Pro498Leu)
|
rs1597515555
|
|
NM_000512.5(GALNS):c.281G>T (p.Arg94Leu)
|
rs727503946
|
|
NM_000512.5(GALNS):c.426T>A (p.His142Gln)
|
rs754616917
|
|
NM_000512.5(GALNS):c.47T>A (p.Val16Glu)
|
rs794729202
|
|
NM_000512.5(GALNS):c.491A>C (p.Asn164Thr)
|
rs761725425
|
|
NM_000512.5(GALNS):c.611A>G (p.Asn204Ser)
|
rs569725936
|
|
NM_000515.5(GH1):c.291+1G>A
|
rs71640277
|
|
NM_000516.7(GNAS):c.596G>C (p.Arg199Pro)
|
rs1267396058
|
|
NM_000516.7(GNAS):c.602dup (p.Val202fs)
|
rs2146270735
|
|
NM_000518.4(HBB):c.157G>A (p.Asp53Asn)
|
rs33961886
|
|
NM_000518.4(HBB):c.364G>C (p.Glu122Gln)
|
rs33946267
|
|
NM_000518.5(HBB):c.190C>T (p.His64Tyr)
|
rs33922873
|
|
NM_000518.5(HBB):c.93-2A>G
|
rs63750513
|
|
NM_000520.6(HEXA):c.539A>C (p.Tyr180Ser)
|
rs200513831
|
|
NM_000520.6(HEXA):c.611A>G (p.His204Arg)
|
rs121907976
|
|
NM_000520.6(HEXA):c.736G>A (p.Ala246Thr)
|
rs758166013
|
|
NM_000522.5(HOXA13):c.381CGC[5] (p.Ala133del)
|
rs955237055
|
|
NM_000524.4(HTR1A):c.-480del
|
rs367956927
|
|
NM_000525.4(KCNJ11):c.28G>C (p.Glu10Gln)
|
rs587783667
|
|
NM_000526.5(KRT14):c.355A>G (p.Met119Val)
|
rs61263401
|
|
NM_000526.5(KRT14):c.356T>G (p.Met119Arg)
|
rs28928893
|
|
NM_000526.5(KRT14):c.372C>A (p.Asp124Glu)
|
rs752374133
|
|
NM_000527.5(LDLR):c.106G>T (p.Asp36Tyr)
|
rs2147210262
|
|
NM_000527.5(LDLR):c.1702C>G (p.Leu568Val)
|
rs746959386
|
|
NM_000527.5(LDLR):c.1790C>A (p.Thr597Asn)
|
rs1184797111
|
|
NM_000527.5(LDLR):c.1801G>C (p.Asp601His)
|
|
|
NM_000527.5(LDLR):c.1876G>A (p.Glu626Lys)
|
|
|
NM_000527.5(LDLR):c.1982C>T (p.Pro661Leu)
|
|
|
NM_000527.5(LDLR):c.2311G>A (p.Ala771Thr)
|
|
|
NM_000527.5(LDLR):c.2441G>A (p.Arg814Gln)
|
|
|
NM_000527.5(LDLR):c.2560A>G (p.Ser854Gly)
|
|
|
NM_000527.5(LDLR):c.52G>C (p.Ala18Pro)
|
rs1172805138
|
|
NM_000527.5(LDLR):c.621C>A (p.Gly207=)
|
rs121908044
|
|
NM_000527.5(LDLR):c.644G>T (p.Arg215Leu)
|
rs753319170
|
|
NM_000527.5(LDLR):c.695-3C>T
|
rs745897889
|
|
NM_000527.5(LDLR):c.806G>A (p.Gly269Asp)
|
|
|
NM_000527.5(LDLR):c.828C>A (p.Cys276Ter)
|
rs146651743
|
|
NM_000527.5(LDLR):c.829G>A (p.Glu277Lys)
|
|
|
NM_000527.5(LDLR):c.932_933del (p.Lys311fs)
|
rs879254723
|
|
NM_000527.5(LDLR):c.940+4A>T
|
rs768247312
|
|
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
|
|
|
NM_000530.8(MPZ):c.101C>T (p.Thr34Ile)
|
rs1571820317
|
|
NM_000530.8(MPZ):c.194C>A (p.Thr65Asn)
|
rs1571819964
|
|
NM_000530.8(MPZ):c.277G>A (p.Gly93Arg)
|
rs1553259691
|
|
NM_000530.8(MPZ):c.301T>C (p.Trp101Arg)
|
rs1060503423
|
|
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg)
|
rs281865127
|
|
NM_000530.8(MPZ):c.401A>T (p.Asp134Val)
|
rs1571818775
|
|
NM_000530.8(MPZ):c.449-2A>G
|
rs2102258343
|
|
NM_000531.6(OTC):c.275G>A (p.Arg92Gln)
|
rs66550389
|
|
NM_000531.6(OTC):c.387-1G>A
|
rs1602029522
|
|
NM_000531.6(OTC):c.407A>T (p.Asp136Val)
|
rs72556257
|
|
NM_000531.6(OTC):c.422G>C (p.Arg141Pro)
|
rs68026851
|
|
NM_000531.6(OTC):c.491C>T (p.Ser164Leu)
|
rs72556274
|
|
NM_000531.6(OTC):c.506C>T (p.Pro169Leu)
|
rs72556278
|
|
NM_000531.6(OTC):c.540+265G>A
|
rs1555975756
|
|
NM_000531.6(OTC):c.717G>C (p.Glu239Asp)
|
rs66851495
|
|
NM_000531.6(OTC):c.77G>T (p.Arg26Leu)
|
rs68031618
|
|
NM_000531.6(OTC):c.867G>A (p.Lys289=)
|
rs72558456
|
|
NM_000531.6(OTC):c.974C>T (p.Pro325Leu)
|
rs1602034625
|
|
NM_000532.5(PCCB):c.1091-8_1091-3del
|
rs1249235758
|
|
NM_000532.5(PCCB):c.1207C>T (p.Gln403Ter)
|
rs768935968
|
|
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs)
|
rs397507445
|
|
NM_000532.5(PCCB):c.517_518del (p.Leu173fs)
|
rs755776820
|
|
NM_000532.5(PCCB):c.611C>T (p.Ala204Val)
|
rs760499581
|
|
NM_000533.5(PLP1):c.295C>T (p.Gln99Ter)
|
rs1602382829
|
|
NM_000533.5(PLP1):c.551G>A (p.Cys184Tyr)
|
rs1602384238
|
|
NM_000533.5(PLP1):c.665C>G (p.Ser222Cys)
|
rs2147766999
|
|
NM_000535.7(PMS2):c.1171G>C (p.Asp391His)
|
rs1064795020
|
|
NM_000535.7(PMS2):c.1180A>G (p.Lys394Glu)
|
rs1583323711
|
|
NM_000535.7(PMS2):c.1219A>G (p.Arg407Gly)
|
rs776725795
|
|
NM_000535.7(PMS2):c.1271T>C (p.Phe424Ser)
|
rs876661186
|
|
NM_000535.7(PMS2):c.134A>G (p.Asn45Ser)
|
rs1554306353
|
|
NM_000535.7(PMS2):c.1354G>C (p.Gly452Arg)
|
rs569947936
|
|
NM_000535.7(PMS2):c.1437C>G (p.His479Gln)
|
rs63750685
|
|
NM_000535.7(PMS2):c.1473G>C (p.Glu491Asp)
|
rs530105089
|
|
NM_000535.7(PMS2):c.1511A>G (p.Glu504Gly)
|
rs1254121331
|
|
NM_000535.7(PMS2):c.1534G>A (p.Gly512Ser)
|
rs1060503127
|
|
NM_000535.7(PMS2):c.1564A>G (p.Ser522Gly)
|
rs1554297553
|
|
NM_000535.7(PMS2):c.1593_1610dup (p.His532_Glu537dup)
|
rs587780043
|
|
NM_000535.7(PMS2):c.1633T>C (p.Ser545Pro)
|
rs1247571278
|
|
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)
|
rs63750668
|
|
NM_000535.7(PMS2):c.1700A>G (p.Gln567Arg)
|
rs112104877
|
|
NM_000535.7(PMS2):c.1721del (p.Pro574fs)
|
rs1583316404
|
|
NM_000535.7(PMS2):c.1759A>C (p.Ser587Arg)
|
rs1554297277
|
|
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)
|
rs63750250
|
|
NM_000535.7(PMS2):c.194T>G (p.Leu65Arg)
|
rs749141001
|
|
NM_000535.7(PMS2):c.2167C>G (p.Leu723Val)
|
rs1456057054
|
|
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)
|
rs587779335
|
|
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs)
|
rs63750695
|
|
NM_000535.7(PMS2):c.2502G>T (p.Met834Ile)
|
rs1554292818
|
|
NM_000535.7(PMS2):c.353+7C>G
|
rs1057520512
|
|
NM_000535.7(PMS2):c.439A>C (p.Thr147Pro)
|
rs1583403496
|
|
NM_000535.7(PMS2):c.446A>C (p.Tyr149Ser)
|
rs1554304003
|
|
NM_000535.7(PMS2):c.538-8T>C
|
rs922948916
|
|
NM_000535.7(PMS2):c.552G>T (p.Met184Ile)
|
rs764853641
|
|
NM_000535.7(PMS2):c.706-4del
|
rs60794673
|
|
NM_000535.7(PMS2):c.708G>T (p.Leu236Phe)
|
rs201395630
|
|
NM_000535.7(PMS2):c.861_864del (p.Arg287fs)
|
rs267608154
|
|
NM_000535.7(PMS2):c.862C>T (p.Gln288Ter)
|
rs1583363851
|
|
NM_000535.7(PMS2):c.948C>A (p.His316Gln)
|
rs1219573982
|
|
NM_000535.7(PMS2):c.989-3T>C
|
rs1156325177
|
|
NM_000539.3(RHO):c.1034T>C (p.Val345Ala)
|
rs1578281706
|
|
NM_000539.3(RHO):c.173C>G (p.Thr58Arg)
|
rs28933394
|
|
NM_000539.3(RHO):c.317G>T (p.Gly106Val)
|
rs1578278417
|
|
NM_000539.3(RHO):c.45T>G (p.Asn15Lys)
|
rs1578278088
|
|
NM_000539.3(RHO):c.509C>G (p.Pro170Arg)
|
rs1553781176
|
|
NM_000539.3(RHO):c.557C>G (p.Ser186Trp)
|
rs371288618
|
|
NM_000539.3(RHO):c.937-2A>T
|
rs1578281565
|
|
NM_000540.3(RYR1):c.10555C>T (p.Pro3519Ser)
|
rs2145712109
|
|
NM_000540.3(RYR1):c.10556C>T (p.Pro3519Leu)
|
rs1600921854
|
|
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His)
|
rs150396398
|
|
NM_000540.3(RYR1):c.13702C>G (p.Leu4568Val)
|
rs1599646668
|
|
NM_000540.3(RYR1):c.13918A>G (p.Met4640Val)
|
rs756850145
|
|
NM_000540.3(RYR1):c.14592CAA[1] (p.Asn4865del)
|
rs2145896801
|
|
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)
|
rs118192170
|
|
NM_000540.3(RYR1):c.2936C>G (p.Ala979Gly)
|
rs769902566
|
|
NM_000540.3(RYR1):c.5011G>A (p.Ala1671Thr)
|
rs1316064829
|
|
NM_000540.3(RYR1):c.7073T>A (p.Ile2358Asn)
|
rs1600820232
|
|
NM_000540.3(RYR1):c.7123G>C (p.Gly2375Arg)
|
rs1568501059
|
|
NM_000541.5(SAG):c.571C>T (p.Gln191Ter)
|
rs1574942567
|
|
NM_000543.5(SMPD1):c.1264-1G>C
|
rs1057516454
|
|
NM_000545.8(HNF1A):c.-124G>C
|
rs563304627
|
|
NM_000545.8(HNF1A):c.1135C>G (p.Pro379Ala)
|
rs754729248
|
|
NM_000545.8(HNF1A):c.1136del (p.Pro379fs)
|
rs1593060859
|
|
NM_000545.8(HNF1A):c.1762C>T (p.Pro588Ser)
|
rs1029590003
|
|
NM_000546.6(TP53):c.-29+5G>T
|
rs1597400604
|
|
NM_000546.6(TP53):c.-43G>T
|
rs1166313179
|
|
NM_000546.6(TP53):c.1069A>G (p.Lys357Glu)
|
rs1567541856
|
|
NM_000546.6(TP53):c.145G>C (p.Asp49His)
|
rs587780728
|
|
NM_000546.6(TP53):c.234_263del (p.Ala79_Ala88del)
|
rs754312472
|
|
NM_000546.6(TP53):c.256G>A (p.Ala86Thr)
|
rs587782148
|
|
NM_000546.6(TP53):c.257_279del (p.Ala86fs)
|
rs886041861
|
|
NM_000546.6(TP53):c.285T>G (p.Ser95=)
|
rs876658696
|
|
NM_000546.6(TP53):c.31G>C (p.Glu11Gln)
|
rs201382018
|
|
NM_000546.6(TP53):c.320A>G (p.Tyr107Cys)
|
rs587782447
|
|
NM_000546.6(TP53):c.376-158del
|
rs5819162
|
|
NM_000546.6(TP53):c.376-160_376-158del
|
rs5819162
|
|
NM_000546.6(TP53):c.376-161_376-158del
|
rs5819162
|
|
NM_000546.6(TP53):c.380C>T (p.Ser127Phe)
|
rs730881999
|
|
NM_000546.6(TP53):c.390_426del (p.Asn131fs)
|
rs1597371154
|
|
NM_000546.6(TP53):c.396G>C (p.Lys132Asn)
|
rs866775781
|
|
NM_000546.6(TP53):c.417G>T (p.Lys139Asn)
|
rs1567554121
|
|
NM_000546.6(TP53):c.451C>T (p.Pro151Ser)
|
rs28934874
|
|
NM_000546.6(TP53):c.473G>C (p.Arg158Pro)
|
rs587782144
|
|
NM_000546.6(TP53):c.560-9T>G
|
rs794727781
|
|
NM_000546.6(TP53):c.623A>G (p.Asp208Gly)
|
rs1464727668
|
|
NM_000546.6(TP53):c.66A>G (p.Leu22=)
|
rs748527030
|
|
NM_000546.6(TP53):c.708C>G (p.Tyr236Ter)
|
rs1597365202
|
|
NM_000546.6(TP53):c.713dup (p.Cys238fs)
|
rs1597365075
|
|
NM_000546.6(TP53):c.718A>G (p.Ser240Gly)
|
rs1567549584
|
|
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)
|
rs121912651
|
|
NM_000546.6(TP53):c.776A>G (p.Asp259Gly)
|
rs745425759
|
|
NM_000546.6(TP53):c.797G>A (p.Gly266Glu)
|
rs193920774
|
|
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)
|
rs55832599
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000546.6(TP53):c.829T>C (p.Cys277Arg)
|
rs1064795369
|
|
NM_000546.6(TP53):c.836G>A (p.Gly279Glu)
|
rs1064793881
|
|
NM_000546.6(TP53):c.839G>A (p.Arg280Lys)
|
rs121912660
|
|
NM_000546.6(TP53):c.845G>C (p.Arg282Pro)
|
rs730882008
|
|
NM_000546.6(TP53):c.917G>A (p.Arg306Gln)
|
rs1048095040
|
|
NM_000546.6(TP53):c.993+257del
|
rs1373684374
|
|
NM_000546.6(TP53):c.993+2T>G
|
rs1597359053
|
|
NM_000546.6(TP53):c.993+303T>A
|
rs1567545268
|
|
NM_000546.6(TP53):c.993+5T>G
|
rs1310956961
|
|
NM_000546.6(TP53):c.997C>T (p.Arg333Cys)
|
rs769934890
|
|
NM_000548.5(TSC2):c.1380_1386del (p.Val461fs)
|
rs2151171193
|
|
NM_000548.5(TSC2):c.139-1G>A
|
rs1567386603
|
|
NM_000548.5(TSC2):c.1513C>T (p.Arg505Ter)
|
rs45517179
|
|
NM_000548.5(TSC2):c.1717-2A>C
|
rs1596335963
|
|
NM_000548.5(TSC2):c.2027G>C (p.Gly676Ala)
|
rs754556513
|
|
NM_000548.5(TSC2):c.2046del (p.Ser683fs)
|
rs397515287
|
|
NM_000548.5(TSC2):c.2350A>T (p.Lys784Ter)
|
rs751172150
|
|
NM_000548.5(TSC2):c.2501C>G (p.Ser834Ter)
|
rs1596356898
|
|
NM_000548.5(TSC2):c.2997_2998dup (p.Leu1000fs)
|
rs1596382268
|
|
NM_000548.5(TSC2):c.3040dup (p.Ser1014fs)
|
rs2151432406
|
|
NM_000548.5(TSC2):c.3376del (p.Asp1126fs)
|
rs397515125
|
|
NM_000548.5(TSC2):c.3669del (p.Asn1224fs)
|
rs137854223
|
|
NM_000548.5(TSC2):c.4005+1G>A
|
rs45517324
|
|
NM_000548.5(TSC2):c.4005+2T>C
|
rs137854254
|
|
NM_000548.5(TSC2):c.4006-2A>G
|
rs397514941
|
|
NM_000548.5(TSC2):c.400G>T (p.Glu134Ter)
|
rs1555497641
|
|
NM_000548.5(TSC2):c.4146_4162dup (p.Ser1388Ter)
|
rs397514976
|
|
NM_000548.5(TSC2):c.4258_4261del (p.Ser1420fs)
|
rs137854132
|
|
NM_000548.5(TSC2):c.4279dup (p.Ser1427fs)
|
rs137854113
|
|
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del)
|
rs137854239
|
|
NM_000548.5(TSC2):c.4550C>G (p.Pro1517Arg)
|
rs1279603512
|
|
NM_000548.5(TSC2):c.4685T>C (p.Leu1562Pro)
|
rs45517362
|
|
NM_000548.5(TSC2):c.4813_4827dup (p.Gln1605_Cys1609dup)
|
rs1596439426
|
|
NM_000548.5(TSC2):c.4876C>A (p.Pro1626Thr)
|
rs2090852831
|
|
NM_000548.5(TSC2):c.4936G>C (p.Val1646Leu)
|
rs1064796970
|
|
NM_000548.5(TSC2):c.4957T>C (p.Ser1653Pro)
|
rs397515159
|
|
NM_000548.5(TSC2):c.5068+27_5069-47del
|
|
|
NM_000548.5(TSC2):c.5068+2T>C
|
rs397515152
|
|
NM_000548.5(TSC2):c.5167T>C (p.Ser1723Pro)
|
rs45517408
|
|
NM_000548.5(TSC2):c.5212del (p.Ser1738fs)
|
rs1596460606
|
|
NM_000548.5(TSC2):c.595del (p.Val199fs)
|
rs2151061858
|
|
NM_000548.5(TSC2):c.975+1G>T
|
rs137854200
|
|
NM_000551.4(VHL):c.123_137del (p.38SGPEE[1])
|
rs863224839
|
|
NM_000551.4(VHL):c.154G>A (p.Glu52Lys)
|
rs373068386
|
|
NM_000551.4(VHL):c.326T>A (p.Ile109Asn)
|
rs398123482
|
|
NM_000551.4(VHL):c.640T>A (p.Ter214Arg)
|
rs1575932781
|
|
NM_000551.4(VHL):c.83A>G (p.Asp28Gly)
|
rs2125124629
|
|
NM_000552.5(VWF):c.3101_3103del (p.Thr1034del)
|
rs368366214
|
|
NM_000552.5(VWF):c.3692A>G (p.Asn1231Ser)
|
rs61749368
|
|
NM_000552.5(VWF):c.3797C>A (p.Pro1266Gln)
|
rs61749370
|
|
NM_000552.5(VWF):c.3797C>T (p.Pro1266Leu)
|
rs61749370
|
|
NM_000552.5(VWF):c.5053+82C>T
|
rs75717362
|
|
NM_000552.5(VWF):c.5793G>C (p.Gln1931His)
|
rs574811308
|
|
NM_000552.5(VWF):c.7988G>C (p.Arg2663Pro)
|
rs149834874
|
|
NM_000553.6(WRN):c.839+25del
|
rs370040831
|
|
NM_000554.6(CRX):c.480_481del (p.Ser161fs)
|
rs1599991538
|
|
NM_000554.6(CRX):c.500_501del (p.Ala166_Ser167insTer)
|
rs1599991611
|
|
NM_000554.6(CRX):c.545C>G (p.Ser182Ter)
|
rs2123743235
|
|
NM_000554.6(CRX):c.586_587del (p.Ala196fs)
|
rs2123743320
|
|
NM_000554.6(CRX):c.766C>T (p.Gln256Ter)
|
rs1968173024
|
|
NM_000611.6(CD59):c.83G>A (p.Cys28Tyr)
|
rs1853849281
|
|
NM_000628.5(IL10RB):c.476G>A (p.Trp159Ter)
|
rs1373354533
|
|
NM_000631.5(NCF4):c.106A>C (p.Thr36Pro)
|
rs200818199
|
|
NM_000639.3(FASLG):c.209C>G (p.Pro70Arg)
|
rs1317103645
|
|
NM_000639.3(FASLG):c.834A>T (p.Leu278Phe)
|
rs1571333854
|
|
NM_000642.2(AGL):c.[1283G>A];[611T>A]
|
|
|
NM_000642.3(AGL):c.1734A>T (p.Arg578Ser)
|
rs1570442236
|
|
NM_000642.3(AGL):c.1900-13T>A
|
rs533280246
|
|
NM_000642.3(AGL):c.2083C>T (p.Gln695Ter)
|
rs1570445130
|
|
NM_000642.3(AGL):c.2433+2T>C
|
rs2100768436
|
|
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs)
|
rs1553187237
|
|
NM_000642.3(AGL):c.2950-1G>C
|
rs1057516793
|
|
NM_000642.3(AGL):c.3492C>G (p.Tyr1164Ter)
|
rs370202718
|
|
NM_000642.3(AGL):c.3636G>A (p.Met1212Ile)
|
rs1570487362
|
|
NM_000642.3(AGL):c.3637C>T (p.Gln1213Ter)
|
rs1570487381
|
|
NM_000642.3(AGL):c.4221del (p.Lys1407fs)
|
rs786204655
|
|
NM_000642.3(AGL):c.576T>G (p.Tyr192Ter)
|
rs1571232325
|
|
NM_000642.3(AGL):c.74_75del (p.Leu25fs)
|
rs2101053661
|
|
NM_000660.7(TGFB1):c.512A>G (p.Tyr171Cys)
|
rs1599893542
|
|
NM_000660.7(TGFB1):c.652C>T (p.Arg218Cys)
|
rs104894721
|
|
NM_000660.7(TGFB1):c.712G>A (p.Gly238Arg)
|
rs1454205854
|
|
NM_000685.5(AGTR1):c.233del (p.Leu78fs)
|
rs1380295297
|
|
NM_000701.8(ATP1A1):c.1799C>G (p.Pro600Arg)
|
rs2101055022
|
|
NM_000702.4(ATP1A2):c.2105_2106del (p.Cys702fs)
|
rs1558008455
|
|
NM_000702.4(ATP1A2):c.671C>T (p.Thr224Ile)
|
rs1230517801
|
|
NM_000702.4(ATP1A2):c.835del (p.Arg279fs)
|
rs1558005340
|
|
NM_000709.4(BCKDHA):c.454G>A (p.Asp152Asn)
|
rs2122122610
|
|
NM_000709.4(BCKDHA):c.743C>T (p.Ala248Val)
|
rs887411374
|
|
NM_000718.4(CACNA1B):c.2986_3000del (p.Thr996_Glu1000del)
|
rs145816559
|
|
NM_000718.4(CACNA1B):c.2988CACGGAGAAGGAGGC[1] (p.997TEKEA[1])
|
rs758502874
|
|
NM_000718.4(CACNA1B):c.501C>G (p.Asn167Lys)
|
rs4422842
|
|
NM_000719.7(CACNA1C):c.1113G>A (p.Trp371Ter)
|
rs1555672574
|
|
NM_000719.7(CACNA1C):c.1853T>G (p.Val618Gly)
|
rs2154593437
|
|
NM_000719.7(CACNA1C):c.2542GAG[2] (p.Glu850del)
|
rs575583988
|
|
NM_000719.7(CACNA1C):c.3500T>C (p.Val1167Ala)
|
rs2153440081
|
|
NM_000719.7(CACNA1C):c.595G>A (p.Asp199Asn)
|
rs2154562881
|
|
NM_000720.4(CACNA1D):c.1516C>T (p.Pro506Ser)
|
rs1576451128
|
|
NM_000751.3(CHRND):c.199-90_199-89insAAGA
|
rs113930536
|
|
NM_000784.4(CYP27A1):c.1052T>G (p.Leu351Arg)
|
rs1470602732
|
|
NM_000784.4(CYP27A1):c.563G>C (p.Arg188Pro)
|
rs754310499
|
|
NM_000785.4(CYP27B1):c.252_262del (p.Thr85fs)
|
rs2140397692
|
|
NM_000791.4(DHFR):c.-409_-392del
|
rs201874762
|
|
NM_000807.4(GABRA2):c.995C>T (p.Ala332Val)
|
rs2109351409
|
|
NM_000810.4(GABRA5):c.902C>G (p.Thr301Arg)
|
rs1595438268
|
|
NM_000812.4(GABRB1):c.701C>G (p.Ser234Ter)
|
rs2110051742
|
|
NM_000814.6(GABRB3):c.146A>G (p.Asp49Gly)
|
rs2140199587
|
|
NM_000814.6(GABRB3):c.694C>T (p.Arg232Ter)
|
rs1595445975
|
|
NM_000814.6(GABRB3):c.883G>T (p.Glu295Ter)
|
rs990827657
|
|
NM_000817.3(GAD1):c.1525G>A (p.Glu509Lys)
|
rs1381723796
|
|
NM_000824.5(GLRB):c.122+1G>A
|
rs1579175843
|
|
NM_000829.4(GRIA4):c.1973C>T (p.Ala658Val)
|
rs2136199045
|
|
NM_000834.5(GRIN2B):c.-205A>T
|
rs1347159255
|
|
NM_000834.5(GRIN2B):c.1458T>A (p.His486Gln)
|
rs763436882
|
|
NM_000834.5(GRIN2B):c.1477_1499dup (p.Glu500_Val501insProGlyMetValTer)
|
rs2136479850
|
|
NM_000834.5(GRIN2B):c.1672G>A (p.Val558Ile)
|
rs1057519004
|
|
NM_000834.5(GRIN2B):c.1721TCTTTG[1] (p.574VF[1])
|
rs1555111511
|
|
NM_000834.5(GRIN2B):c.1849T>A (p.Ser617Thr)
|
rs2136470472
|
|
NM_000834.5(GRIN2B):c.2011-2_2038dup
|
rs1591612370
|
|
NM_000834.5(GRIN2B):c.2072C>G (p.Thr691Arg)
|
rs2136415828
|
|
NM_000834.5(GRIN2B):c.2081A>G (p.Asn694Ser)
|
rs1591612317
|
|
NM_000834.5(GRIN2B):c.2192A>G (p.Tyr731Cys)
|
rs1948686521
|
|
NM_000834.5(GRIN2B):c.2196T>G (p.Asp732Glu)
|
rs1591611001
|
|
NM_000834.5(GRIN2B):c.2216T>C (p.Met739Thr)
|
rs1555103652
|
|
NM_000834.5(GRIN2B):c.2402G>A (p.Cys801Tyr)
|
rs2136409921
|
|
NM_000834.5(GRIN2B):c.2454G>A (p.Met818Ile)
|
rs2136409777
|
|
NM_000834.5(GRIN2B):c.2459G>A (p.Gly820Glu)
|
rs797044849
|
|
NM_000834.5(GRIN2B):c.2472G>A (p.Met824Ile)
|
rs2136409732
|
|
NM_000834.5(GRIN2B):c.3210T>A (p.Tyr1070Ter)
|
rs1591606580
|
|
NM_000834.5(GRIN2B):c.3329G>A (p.Arg1110His)
|
rs1271239566
|
|
NM_000834.5(GRIN2B):c.992A>G (p.Gln331Arg)
|
rs1555132930
|
|
NM_000836.4(GRIN2D):c.1605G>T (p.Met535Ile)
|
rs1390364278
|
|
NM_000836.4(GRIN2D):c.1997C>T (p.Ala666Val)
|
rs2147455888
|
|
NM_000836.4(GRIN2D):c.1999G>A (p.Val667Ile)
|
rs886040861
|
|
NM_000891.3(KCNJ2):c.526_531dup (p.Ile176_Gly177dup)
|
rs1598211251
|
|
NM_000937.5(POLR2A):c.5428C>T (p.Arg1810Ter)
|
rs2070732825
|
|
NM_000937.5(POLR2A):c.5511_5512= (p.Pro1837_Lys1838=)
|
rs1490940612
|
|
NM_000939.4(POMC):c.394C>G (p.Pro132Ala)
|
rs8192606
|
|
NM_000944.5(PPP3CA):c.1311_1315del (p.Ser438fs)
|
rs1578388765
|
|
NM_000944.5(PPP3CA):c.762G>T (p.Arg254Ser)
|
rs1334933549
|
|
NM_000969.5(RPL5):c.169_172del (p.Asn57fs)
|
rs1558284033
|
|
NM_001002295.2(GATA3):c.1058G>A (p.Arg353Lys)
|
rs1564405163
|
|
NM_001002295.2(GATA3):c.381_388del (p.Gly128fs)
|
rs2131488863
|
|
NM_001002295.2(GATA3):c.708del (p.Ser237fs)
|
rs771019738
|
|
NM_001002295.2(GATA3):c.925-3_925-2del
|
rs763236375
|
|
NM_001003694.2(BRPF1):c.1755A>C (p.Lys585Asn)
|
rs2125504238
|
|
NM_001003694.2(BRPF1):c.2027A>G (p.Lys676Arg)
|
rs2125507908
|
|
NM_001003694.2(BRPF1):c.2812dup (p.Gln938fs)
|
rs762904815
|
|
NM_001003694.2(BRPF1):c.3152G>A (p.Gly1051Asp)
|
rs2125514693
|
|
NM_001003694.2(BRPF1):c.964C>T (p.Gln322Ter)
|
rs2125500524
|
|
NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu)
|
rs587777885
|
|
NM_001005242.3(PKP2):c.1170+2T>C
|
rs397516987
|
|
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser)
|
rs139734328
|
|
NM_001005273.3(CHD3):c.3505C>T (p.Arg1169Trp)
|
rs1567861468
|
|
NM_001005273.3(CHD3):c.5541dup (p.Lys1848fs)
|
rs2151667298
|
|
NM_001005361.3(DNM2):c.1816G>T (p.Ala606Ser)
|
rs2146181196
|
|
NM_001005361.3(DNM2):c.2372C>T (p.Pro791Leu)
|
rs780738840
|
|
NM_001005373.4(LRSAM1):c.1037_1040del (p.Asn346fs)
|
rs1588121150
|
|
NM_001005373.4(LRSAM1):c.2084G>A (p.Cys695Tyr)
|
rs2132133868
|
|
NM_001007228.2(SPOP):c.312C>A (p.Phe104Leu)
|
rs2143269972
|
|
NM_001007228.2(SPOP):c.430G>A (p.Asp144Asn)
|
rs2072153488
|
|
NM_001008216.2(GALE):c.408C>A (p.Tyr136Ter)
|
rs727503943
|
|
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter)
|
rs786205208
|
|
NM_001008537.3(NEXMIF):c.2869C>T (p.Gln957Ter)
|
rs2147439880
|
|
NM_001008537.3(NEXMIF):c.3689del (p.Ala1230fs)
|
rs1602210960
|
|
NM_001009944.3(PKD1):c.10546_10547insCAGC (p.Leu3516fs)
|
rs2151710316
|
|
NM_001009944.3(PKD1):c.11240C>A (p.Pro3747Gln)
|
rs2151701971
|
|
NM_001009944.3(PKD1):c.11461C>T (p.Gln3821Ter)
|
rs1325300747
|
|
NM_001009944.3(PKD1):c.12004-7_12012dup
|
rs1596475487
|
|
NM_001009944.3(PKD1):c.12095G>A (p.Gly4032Asp)
|
rs142768096
|
|
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg)
|
rs1555458704
|
|
NM_001009944.3(PKD1):c.1722+1G>T
|
rs1567214706
|
|
NM_001009944.3(PKD1):c.1931del (p.Gly644fs)
|
rs1596580483
|
|
NM_001009944.3(PKD1):c.2048G>A (p.Trp683Ter)
|
rs1174034883
|
|
NM_001009944.3(PKD1):c.2180T>C (p.Leu727Pro)
|
rs1616940
|
|
NM_001009944.3(PKD1):c.2828_2831del (p.Ala943fs)
|
rs1596574774
|
|
NM_001009944.3(PKD1):c.330del (p.Phe111fs)
|
rs2151826084
|
|
NM_001009944.3(PKD1):c.3597_3601dup (p.Ala1201fs)
|
rs2151800732
|
|
NM_001009944.3(PKD1):c.3804_3805del (p.Asn1269fs)
|
rs1596561773
|
|
NM_001009944.3(PKD1):c.4243del (p.Asp1415fs)
|
rs34495017
|
|
NM_001009944.3(PKD1):c.4906C>T (p.Gln1636Ter)
|
rs1596557266
|
|
NM_001009944.3(PKD1):c.4929C>G (p.Tyr1643Ter)
|
rs752948922
|
|
NM_001009944.3(PKD1):c.6148A>G (p.Asn2050Asp)
|
rs1302127440
|
|
NM_001009944.3(PKD1):c.8672CCAACTCCG[3] (p.2891ANS[3])
|
rs763199524
|
|
NM_001009944.3(PKD1):c.8762A>G (p.His2921Arg)
|
rs1555450920
|
|
NM_001009944.3(PKD1):c.8767C>T (p.Gln2923Ter)
|
rs747638599
|
|
NM_001012339.3(DNAJC21):c.982del (p.Ala328fs)
|
rs1580531090
|
|
NM_001012720.2(RGR):c.820del (p.Arg274fs)
|
rs1589337745
|
|
NM_001015877.2(PHF6):c.729+5G>A
|
rs993377069
|
|
NM_001018005.2(TPM1):c.179A>G (p.Tyr60Cys)
|
rs1596303148
|
|
NM_001018115.3(FANCD2):c.1098+4A>G
|
rs664233
|
|
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.1279-1G>A
|
rs1294791314
|
|
NM_001018115.3(FANCD2):c.2022-5C>T
|
rs4019784
|
|
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.3278T>A (p.Val1093Asp)
|
|
|
NM_001018115.3(FANCD2):c.3777+83_3777+86del
|
rs773716319
|
|
NM_001018115.3(FANCD2):c.4234_4239del (p.Ser1412_Glu1413del)
|
rs766605179
|
|
NM_001022.4(RPS19):c.214G>T (p.Val72Phe)
|
rs1600621248
|
|
NM_001023570.4(IQCB1):c.1410+74AT[4]
|
rs1553709033
|
|
NM_001023570.4(IQCB1):c.1410+81GT[17]
|
rs57816005
|
|
NM_001024630.4(RUNX2):c.225GGCGGCTGCGGCGGCGGC[1] (p.Ala84_Ala89del)
|
rs11498192
|
|
NM_001024630.4(RUNX2):c.371C>A (p.Ser124Ter)
|
rs1582095109
|
|
NM_001024630.4(RUNX2):c.581-1G>A
|
rs2150371825
|
|
NM_001025295.3(IFITM5):c.-14C>T
|
rs587776916
|
|
NM_001025616.3(ARHGAP24):c.2207C>A (p.Pro736His)
|
rs979225533
|
|
NM_001029883.2(PCARE):c.3673_3675dupAGC
|
|
|
NM_001029896.2(WDR45):c.130+1G>C
|
rs2147817628
|
|
NM_001029896.2(WDR45):c.170T>C (p.Leu57Pro)
|
rs1602540331
|
|
NM_001029896.2(WDR45):c.235+2T>G
|
rs1602540211
|
|
NM_001029896.2(WDR45):c.599dup (p.Asn201fs)
|
rs1557084066
|
|
NM_001029896.2(WDR45):c.618del (p.Val207fs)
|
rs1602538023
|
|
NM_001029896.2(WDR45):c.746CCT[1] (p.Ser250del)
|
rs1064793294
|
|
NM_001029896.2(WDR45):c.785A>C (p.His262Pro)
|
rs2147815135
|
|
NM_001029896.2(WDR45):c.78_79del (p.Glu26fs)
|
rs2147817681
|
|
NM_001029896.2(WDR45):c.827+1G>T
|
rs1557083958
|
|
NM_001031710.3(KLHL7):c.936+3731_936+3735del
|
rs141774430
|
|
NM_001031725.6(DDX59):c.185del (p.Phe62fs)
|
rs773114666
|
|
NM_001032221.6(STXBP1):c.1108C>T (p.Gln370Ter)
|
rs2131501460
|
|
NM_001032221.6(STXBP1):c.1236del (p.Phe413_Leu414insTer)
|
rs1588339898
|
|
NM_001032221.6(STXBP1):c.1652G>A (p.Arg551His)
|
|
|
NM_001032221.6(STXBP1):c.236C>T (p.Pro79Leu)
|
rs1588302912
|
|
NM_001032221.6(STXBP1):c.241G>T (p.Glu81Ter)
|
rs1461664423
|
|
NM_001032221.6(STXBP1):c.303_305del (p.Ala102del)
|
rs1588306876
|
|
NM_001032221.6(STXBP1):c.423A>T (p.Glu141Asp)
|
rs1588309392
|
|
NM_001032221.6(STXBP1):c.430-1G>A
|
rs796053354
|
|
NM_001032221.6(STXBP1):c.579-1G>A
|
rs1588317190
|
|
NM_001032221.6(STXBP1):c.795-2A>C
|
rs2131481227
|
|
NM_001032221.6(STXBP1):c.862T>C (p.Trp288Arg)
|
rs1588324025
|
|
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)
|
rs786205598
|
|
NM_001032382.2(PQBP1):c.334_354del (p.Gly113_Arg119del)
|
rs606231198
|
|
NM_001032386.2(SUOX):c.1388C>T (p.Ser463Phe)
|
rs1565799921
|
|
NM_001032386.2(SUOX):c.332T>A (p.Val111Asp)
|
rs794729211
|
|
NM_001033561.2(PHF12):c.512C>T (p.Ala171Val)
|
rs999428680
|
|
NM_001033561.2(PHF12):c.92C>A (p.Pro31His)
|
rs1312516384
|
|
NM_001033855.3(DCLRE1C):c.1691A>G (p.Glu564Gly)
|
rs1588892169
|
|
NM_001033855.3(DCLRE1C):c.206T>A (p.Leu69Ter)
|
rs1589136659
|
|
NM_001034853.2(RPGR):c.194G>A (p.Gly65Asp)
|
rs1601982532
|
|
NM_001034853.2(RPGR):c.2023G>T (p.Glu675Ter)
|
rs1601924184
|
|
NM_001034853.2(RPGR):c.2140G>T (p.Glu714Ter)
|
rs2147199519
|
|
NM_001034853.2(RPGR):c.2185G>T (p.Glu729Ter)
|
rs1601923813
|
|
NM_001034853.2(RPGR):c.2218G>T (p.Glu740Ter)
|
rs983693027
|
|
NM_001034853.2(RPGR):c.2470G>T (p.Gly824Ter)
|
rs2147197584
|
|
NM_001034853.2(RPGR):c.248-2A>G
|
rs62638633
|
|
NM_001034853.2(RPGR):c.2522_2525dup (p.Glu843fs)
|
rs2147197113
|
|
NM_001034853.2(RPGR):c.2522del (p.Glu841fs)
|
rs1601922202
|
|
NM_001034853.2(RPGR):c.280T>C (p.Cys94Arg)
|
rs1601978925
|
|
NM_001034853.2(RPGR):c.29-2A>G
|
rs2147291936
|
|
NM_001034853.2(RPGR):c.2987AAG[2] (p.Glu998del)
|
rs1356107537
|
|
NM_001034853.2(RPGR):c.3092_3093del (p.Glu1031fs)
|
rs606231181
|
|
NM_001034853.2(RPGR):c.310+1_310+2insGGTGCTCAACCT
|
rs1601978817
|
|
NM_001034853.2(RPGR):c.3104_3105del (p.Glu1035fs)
|
rs1601917999
|
|
NM_001034853.2(RPGR):c.310G>T (p.Glu104Ter)
|
rs1601978823
|
|
NM_001034853.2(RPGR):c.3184G>T (p.Glu1062Ter)
|
rs2147190626
|
|
NM_001034853.2(RPGR):c.3200_3218dup (p.Glu1075fs)
|
rs2147190484
|
|
NM_001034853.2(RPGR):c.369C>G (p.Asp123Glu)
|
rs2147280505
|
|
NM_001034853.2(RPGR):c.389_390del (p.Phe130fs)
|
rs1601974881
|
|
NM_001034853.2(RPGR):c.749G>A (p.Cys250Tyr)
|
rs1601961064
|
|
NM_001034853.2(RPGR):c.957del (p.Phe319fs)
|
rs1601947074
|
|
NM_001035.3(RYR2):c.11939T>A (p.Val3980Asp)
|
rs1573923041
|
|
NM_001035.3(RYR2):c.14223_14224insTTTTT (p.His4742fs)
|
rs1574034151
|
|
NM_001035.3(RYR2):c.4693C>G (p.Pro1565Ala)
|
rs778783933
|
|
NM_001037333.3(CYFIP2):c.259C>A (p.Arg87Ser)
|
rs1131692231
|
|
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys)
|
rs1131692231
|
|
NM_001038.6(SCNN1A):c.1221_1227dup (p.Lys410fs)
|
rs1565478701
|
|
NM_001038.6(SCNN1A):c.1439+1G>A
|
rs1369791519
|
|
NM_001039.4(SCNN1G):c.1016T>G (p.Phe339Cys)
|
rs957875115
|
|
NM_001039141.3(TRIOBP):c.1193_1195del (p.Gln398del)
|
rs55745992
|
|
NM_001039591.3(USP9X):c.3905C>T (p.Ala1302Val)
|
rs2147171235
|
|
NM_001039591.3(USP9X):c.5717C>T (p.Thr1906Ile)
|
rs2147245804
|
|
NM_001039591.3(USP9X):c.6085+6T>C
|
rs2063214510
|
|
NM_001039591.3(USP9X):c.7431+9dup
|
rs774054468
|
|
NM_001040108.2(MLH3):c.1189_1191del (p.Ile397del)
|
rs777369430
|
|
NM_001040108.2(MLH3):c.2666C>T (p.Thr889Ile)
|
rs1266112326
|
|
NM_001040142.2(SCN2A):c.121C>T (p.Arg41Cys)
|
rs747086776
|
|
NM_001040142.2(SCN2A):c.1267G>C (p.Val423Leu)
|
rs796053180
|
|
NM_001040142.2(SCN2A):c.1271T>G (p.Val424Gly)
|
rs796053181
|
|
NM_001040142.2(SCN2A):c.1384-2A>G
|
rs1574571769
|
|
NM_001040142.2(SCN2A):c.2566C>T (p.Arg856Ter)
|
rs1553579225
|
|
NM_001040142.2(SCN2A):c.2638G>A (p.Ala880Thr)
|
rs1574641522
|
|
NM_001040142.2(SCN2A):c.2659G>C (p.Val887Leu)
|
rs1574641605
|
|
NM_001040142.2(SCN2A):c.2725G>A (p.Glu909Lys)
|
rs1553579374
|
|
NM_001040142.2(SCN2A):c.2854G>T (p.Glu952Ter)
|
rs1553579543
|
|
NM_001040142.2(SCN2A):c.3040A>T (p.Ile1014Phe)
|
rs2105336961
|
|
NM_001040142.2(SCN2A):c.3209dup (p.Asp1070fs)
|
rs2105337298
|
|
NM_001040142.2(SCN2A):c.3399+1del
|
rs2105337639
|
|
NM_001040142.2(SCN2A):c.3664A>C (p.Ser1222Arg)
|
rs1574697769
|
|
NM_001040142.2(SCN2A):c.3997G>T (p.Ala1333Ser)
|
rs796053132
|
|
NM_001040142.2(SCN2A):c.4243C>A (p.Leu1415Ile)
|
rs1574716524
|
|
NM_001040142.2(SCN2A):c.4316T>G (p.Leu1439Ter)
|
rs2105384553
|
|
NM_001040142.2(SCN2A):c.4517C>G (p.Ser1506Ter)
|
rs1287017958
|
|
NM_001040142.2(SCN2A):c.4635G>C (p.Met1545Ile)
|
rs1574746733
|
|
NM_001040142.2(SCN2A):c.4635G>T (p.Met1545Ile)
|
rs1574746733
|
|
NM_001040142.2(SCN2A):c.4688T>G (p.Leu1563Arg)
|
rs1574746935
|
|
NM_001040142.2(SCN2A):c.481A>T (p.Thr161Ser)
|
rs1006842752
|
|
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
|
|
|
NM_001040142.2(SCN2A):c.4913G>C (p.Arg1638Pro)
|
rs1702006258
|
|
NM_001040142.2(SCN2A):c.507del (p.Glu169fs)
|
rs1574554892
|
|
NM_001040142.2(SCN2A):c.5113A>C (p.Ile1705Leu)
|
rs1574752113
|
|
NM_001040142.2(SCN2A):c.5333A>T (p.Asn1778Ile)
|
rs1574752700
|
|
NM_001040142.2(SCN2A):c.5918C>G (p.Pro1973Arg)
|
rs1574754680
|
|
NM_001040142.2(SCN2A):c.634A>G (p.Asn212Asp)
|
rs2105244906
|
|
NM_001040142.2(SCN2A):c.638T>C (p.Val213Ala)
|
rs1574556643
|
|
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val)
|
rs387906686
|
|
NM_001040272.6(ADAMTSL1):c.1184dup (p.Ile396fs)
|
rs770166321
|
|
NM_001040272.6(ADAMTSL1):c.1392del (p.Ile464fs)
|
rs2133177913
|
|
NM_001040716.2(PC):c.1216C>T (p.Arg406Cys)
|
rs1358651584
|
|
NM_001040716.2(PC):c.788G>A (p.Arg263Gln)
|
rs769177104
|
|
NM_001040716.2(PC):c.815A>G (p.Gln272Arg)
|
rs1591186383
|
|
NM_001042424.3(NSD2):c.3353A>G (p.Tyr1118Cys)
|
rs2108976771
|
|
NM_001042432.2(CLN3):c.1059C>A (p.Cys353Ter)
|
rs1057516677
|
|
NM_001042432.2(CLN3):c.373del (p.Ser125fs)
|
rs1596563048
|
|
NM_001042432.2(CLN3):c.382dup (p.Val128fs)
|
rs2141714554
|
|
NM_001042492.3(NF1):c.1185+7G>C
|
rs1322791959
|
|
NM_001042492.3(NF1):c.1186-1G>A
|
rs876660782
|
|
NM_001042492.3(NF1):c.1188_1189del (p.Ile396fs)
|
rs1597682729
|
|
NM_001042492.3(NF1):c.1370A>T (p.His457Leu)
|
rs786202763
|
|
NM_001042492.3(NF1):c.1528-1G>T
|
rs876660595
|
|
NM_001042492.3(NF1):c.1663_1666del (p.Leu555fs)
|
rs2066928095
|
|
NM_001042492.3(NF1):c.1854del (p.Asp618fs)
|
rs1597710342
|
|
NM_001042492.3(NF1):c.1888dup (p.Val630fs)
|
rs1567846670
|
|
NM_001042492.3(NF1):c.1940A>C (p.His647Pro)
|
rs1170252879
|
|
NM_001042492.3(NF1):c.1950del (p.Leu650fs)
|
rs1597710658
|
|
NM_001042492.3(NF1):c.1989del (p.Asn664fs)
|
rs1202226733
|
|
NM_001042492.3(NF1):c.2032C>A (p.Pro678Thr)
|
rs758691069
|
|
NM_001042492.3(NF1):c.205-9_205-8del
|
rs2143645174
|
|
NM_001042492.3(NF1):c.2244dup (p.Ser749fs)
|
rs1597712758
|
|
NM_001042492.3(NF1):c.2251G>C (p.Gly751Arg)
|
rs1567847681
|
|
NM_001042492.3(NF1):c.233del (p.Asn78fs)
|
rs1438566555
|
|
NM_001042492.3(NF1):c.236T>G (p.Leu79Ter)
|
rs1597629765
|
|
NM_001042492.3(NF1):c.2449dup (p.Met817fs)
|
rs1567848755
|
|
NM_001042492.3(NF1):c.2537C>A (p.Ala846Asp)
|
rs1555614229
|
|
NM_001042492.3(NF1):c.2545_2546dup (p.Val850fs)
|
rs1567848878
|
|
NM_001042492.3(NF1):c.269T>A (p.Leu90Gln)
|
rs1555605393
|
|
NM_001042492.3(NF1):c.2851-2A>T
|
rs2151430455
|
|
NM_001042492.3(NF1):c.2896G>A (p.Ala966Thr)
|
rs876658849
|
|
NM_001042492.3(NF1):c.2897C>G (p.Ala966Gly)
|
rs1567849533
|
|
NM_001042492.3(NF1):c.3047_3048del (p.Cys1016fs)
|
rs1597716910
|
|
NM_001042492.3(NF1):c.3112A>T (p.Arg1038Trp)
|
rs1597717017
|
|
NM_001042492.3(NF1):c.3152del (p.Gly1051fs)
|
rs2151432442
|
|
NM_001042492.3(NF1):c.3198-4dup
|
rs371047262
|
|
NM_001042492.3(NF1):c.3198-6_3198-1del
|
rs1597718651
|
|
NM_001042492.3(NF1):c.3199G>T (p.Asp1067Tyr)
|
rs1597718721
|
|
NM_001042492.3(NF1):c.3204G>T (p.Leu1068Phe)
|
rs1258842007
|
|
NM_001042492.3(NF1):c.3299C>A (p.Ser1100Ter)
|
rs2067124341
|
|
NM_001042492.3(NF1):c.3323del (p.Thr1108fs)
|
rs2151434456
|
|
NM_001042492.3(NF1):c.333del (p.Lys111fs)
|
rs1597635722
|
|
NM_001042492.3(NF1):c.3381_3382del (p.Gly1128fs)
|
rs1597719504
|
|
NM_001042492.3(NF1):c.3461A>T (p.Asn1154Ile)
|
rs371544233
|
|
NM_001042492.3(NF1):c.3625G>C (p.Val1209Leu)
|
rs1458579232
|
|
NM_001042492.3(NF1):c.380_381insT (p.Asn128fs)
|
rs2143672139
|
|
NM_001042492.3(NF1):c.3831C>T (p.Gly1277=)
|
rs1597722611
|
|
NM_001042492.3(NF1):c.3974+23A>T
|
rs376217184
|
|
NM_001042492.3(NF1):c.4076dup (p.Gln1360fs)
|
rs1135402852
|
|
NM_001042492.3(NF1):c.4107C>A (p.Tyr1369Ter)
|
rs1597735272
|
|
NM_001042492.3(NF1):c.4174-8_4174-6del
|
rs751729752
|
|
NM_001042492.3(NF1):c.4234A>G (p.Arg1412Gly)
|
rs1555618515
|
|
NM_001042492.3(NF1):c.4285A>T (p.Lys1429Ter)
|
rs758915600
|
|
NM_001042492.3(NF1):c.4328C>T (p.Ser1443Leu)
|
rs1555618566
|
|
NM_001042492.3(NF1):c.4344_4345insCCT (p.Ser1448_Ile1449insPro)
|
rs1597745583
|
|
NM_001042492.3(NF1):c.4381dup (p.Met1461fs)
|
rs1597745689
|
|
NM_001042492.3(NF1):c.4431-1G>T
|
rs1597746891
|
|
NM_001042492.3(NF1):c.4463del (p.Thr1488fs)
|
rs1597746962
|
|
NM_001042492.3(NF1):c.4577+2T>C
|
rs1597747184
|
|
NM_001042492.3(NF1):c.4578-12dup
|
rs1597748630
|
|
NM_001042492.3(NF1):c.4769T>A (p.Leu1590Ter)
|
rs2067765689
|
|
NM_001042492.3(NF1):c.4834A>C (p.Arg1612=)
|
rs755137259
|
|
NM_001042492.3(NF1):c.484C>A (p.Gln162Lys)
|
rs1555607073
|
|
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer)
|
rs1597829906
|
|
NM_001042492.3(NF1):c.5046dup (p.Asn1683Ter)
|
rs1597829913
|
|
NM_001042492.3(NF1):c.5079del (p.His1693fs)
|
rs1597829969
|
|
NM_001042492.3(NF1):c.5254A>G (p.Lys1752Glu)
|
rs2069338262
|
|
NM_001042492.3(NF1):c.5269-2A>T
|
rs1555533548
|
|
NM_001042492.3(NF1):c.5379_5380dup (p.Val1794fs)
|
rs1597832021
|
|
NM_001042492.3(NF1):c.5489G>A (p.Arg1830His)
|
rs771529172
|
|
NM_001042492.3(NF1):c.5501C>G (p.Ser1834Ter)
|
rs1597832235
|
|
NM_001042492.3(NF1):c.5609+1G>T
|
rs1131691117
|
|
NM_001042492.3(NF1):c.5711A>C (p.Asn1904Thr)
|
rs864622647
|
|
NM_001042492.3(NF1):c.5773del (p.Glu1925fs)
|
rs2151544918
|
|
NM_001042492.3(NF1):c.5814_5815insTTTTT (p.Ile1939fs)
|
rs1481408918
|
|
NM_001042492.3(NF1):c.5815A>T (p.Ile1939Phe)
|
rs1173859882
|
|
NM_001042492.3(NF1):c.5847del (p.Met1949fs)
|
rs1597840055
|
|
NM_001042492.3(NF1):c.61-1G>T
|
rs1263745475
|
|
NM_001042492.3(NF1):c.61-2A>T
|
rs1131691100
|
|
NM_001042492.3(NF1):c.6327C>G (p.Phe2109Leu)
|
rs2069688250
|
|
NM_001042492.3(NF1):c.6360_6363dup (p.Thr2122fs)
|
rs1597843096
|
|
NM_001042492.3(NF1):c.64C>T (p.Pro22Ser)
|
rs1597625794
|
|
NM_001042492.3(NF1):c.6540del (p.Ser2181fs)
|
rs1597843853
|
|
NM_001042492.3(NF1):c.6546C>G (p.Tyr2182Ter)
|
rs876659768
|
|
NM_001042492.3(NF1):c.6577G>C (p.Glu2193Gln)
|
rs1135402891
|
|
NM_001042492.3(NF1):c.6623C>T (p.Ala2208Val)
|
rs1555534886
|
|
NM_001042492.3(NF1):c.6637A>G (p.Met2213Val)
|
rs864622330
|
|
NM_001042492.3(NF1):c.6682C>T (p.Gln2228Ter)
|
rs2069718249
|
|
NM_001042492.3(NF1):c.6772C>T (p.Arg2258Ter)
|
rs876658541
|
|
NM_001042492.3(NF1):c.6931C>A (p.Leu2311Met)
|
rs1044698498
|
|
NM_001042492.3(NF1):c.7062+1G>T
|
rs863224492
|
|
NM_001042492.3(NF1):c.7189G>A (p.Gly2397Arg)
|
rs1135402900
|
|
NM_001042492.3(NF1):c.7262A>G (p.Asn2421Ser)
|
rs774339063
|
|
NM_001042492.3(NF1):c.7458-2_7459del
|
rs1597862010
|
|
NM_001042492.3(NF1):c.7700C>G (p.Pro2567Arg)
|
rs754511534
|
|
NM_001042492.3(NF1):c.7724_7725dup (p.Asp2576fs)
|
rs1597865858
|
|
NM_001042492.3(NF1):c.7923del (p.Glu2641fs)
|
rs1597866921
|
|
NM_001042492.3(NF1):c.7971-1G>T
|
rs1417908560
|
|
NM_001042492.3(NF1):c.814_819del (p.Ile272_Leu273del)
|
rs2143785976
|
|
NM_001042492.3(NF1):c.8377+6509A>T
|
rs1343721620
|
|
NM_001042492.3(NF1):c.844C>T (p.Gln282Ter)
|
rs753054046
|
|
NM_001042492.3(NF1):c.888+1G>T
|
rs1135402799
|
|
NM_001042492.3(NF1):c.889-2A>T
|
rs878853922
|
|
NM_001042517.2(DIAPH3):c.1840C>A (p.Pro614Thr)
|
rs200018583
|
|
NM_001042517.2(DIAPH3):c.3055dup (p.Arg1019fs)
|
rs753024929
|
|
NM_001042545.2(LTBP4):c.3035dup (p.Tyr1013fs)
|
rs59030801
|
|
NM_001042646.3(TRAK1):c.1963+101GGA[12]
|
rs10634555
|
|
NM_001042681.2(RERE):c.4427C>T (p.Pro1476Leu)
|
rs2124354095
|
|
NM_001042750.2(STAG2):c.3052G>A (p.Val1018Met)
|
rs2059016659
|
|
NM_001048166.1(STIL):c.2594A>C (p.Asn865Thr)
|
rs201989960
|
|
NM_001048174.2(MUTYH):c.1001C>T (p.Ala334Val)
|
rs753207020
|
|
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)
|
rs587778536
|
|
NM_001048174.2(MUTYH):c.1072C>G (p.Gln358Glu)
|
rs878854183
|
|
NM_001048174.2(MUTYH):c.1096A>G (p.Asn366Asp)
|
rs1644888393
|
|
NM_001048174.2(MUTYH):c.1174C>G (p.Leu392Val)
|
rs144079536
|
|
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)
|
rs587778541
|
|
NM_001048174.2(MUTYH):c.1417C>T (p.Gln473Ter)
|
rs932830392
|
|
NM_001048174.2(MUTYH):c.1434+3A>T
|
rs1553123967
|
|
NM_001048174.2(MUTYH):c.14G>C (p.Arg5Pro)
|
rs587780081
|
|
NM_001048174.2(MUTYH):c.1515T>A (p.Phe505Leu)
|
rs1557444106
|
|
NM_001048174.2(MUTYH):c.181G>C (p.Asp61His)
|
rs1557486724
|
|
NM_001048174.2(MUTYH):c.213C>A (p.Ser71Arg)
|
rs752209909
|
|
NM_001048174.2(MUTYH):c.278T>C (p.Met93Thr)
|
rs1557484437
|
|
NM_001048174.2(MUTYH):c.337del (p.Gln113fs)
|
rs1553129638
|
|
NM_001048174.2(MUTYH):c.421-2A>G
|
rs786203161
|
|
NM_001048174.2(MUTYH):c.461G>A (p.Arg154His)
|
rs143353451
|
|
NM_001048174.2(MUTYH):c.484G>T (p.Ala162Ser)
|
rs764458059
|
|
NM_001048174.2(MUTYH):c.493-5A>T
|
rs758377868
|
|
NM_001048174.2(MUTYH):c.571A>G (p.Thr191Ala)
|
rs771064557
|
|
NM_001048174.2(MUTYH):c.606+21C>A
|
rs148552450
|
|
NM_001048174.2(MUTYH):c.606+3G>C
|
rs1553128340
|
|
NM_001048174.2(MUTYH):c.607-18_607-17del
|
rs765157527
|
|
NM_001048174.2(MUTYH):c.610A>G (p.Thr204Ala)
|
rs587782351
|
|
NM_001048174.2(MUTYH):c.610A>T (p.Thr204Ser)
|
rs587782351
|
|
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe)
|
rs587780749
|
|
NM_001048174.2(MUTYH):c.704+16A>G
|
rs747251904
|
|
NM_001048174.2(MUTYH):c.743G>A (p.Gly248Glu)
|
rs1557471507
|
|
NM_001065.4(TNFRSF1A):c.123T>G (p.Asp41Glu)
|
rs104895271
|
|
NM_001069.3(TUBB2A):c.1171C>T (p.Arg391Cys)
|
rs1554122907
|
|
NM_001069.3(TUBB2A):c.148T>C (p.Tyr50His)
|
rs1762626709
|
|
NM_001075098.3(MOCS1):c.[853G>A;c.1015C>T]
|
|
|
NM_001077350.3(NPRL3):c.301C>T (p.Gln101Ter)
|
rs1596528731
|
|
NM_001077365.2(POMT1):c.2126T>C (p.Leu709Pro)
|
rs776988725
|
|
NM_001077446.4(TSEN34):c.862_865dup (p.Leu289fs)
|
rs1246937494
|
|
NM_001079668.3(NKX2-1):c.267dup (p.His90fs)
|
rs1594407150
|
|
NM_001079668.3(NKX2-1):c.464-2A>T
|
rs587776708
|
|
NM_001079668.3(NKX2-1):c.524C>A (p.Ser175Ter)
|
rs863225300
|
|
NM_001079668.3(NKX2-1):c.533del (p.Asp178fs)
|
rs2139408021
|
|
NM_001079668.3(NKX2-1):c.623G>C (p.Arg208Pro)
|
rs1325836054
|
|
NM_001079668.3(NKX2-1):c.713G>C (p.Trp238Ser)
|
rs28936672
|
|
NM_001079668.3(NKX2-1):c.714G>A (p.Trp238Ter)
|
rs1594403990
|
|
NM_001079668.3(NKX2-1):c.789CGG[3] (p.Gly271del)
|
rs769203758
|
|
NM_001079668.3(NKX2-1):c.796GGCGGGGGC[3] (p.Gly269_Gly271dup)
|
rs577015120
|
|
NM_001079668.3(NKX2-1):c.961C>A (p.Gln321Lys)
|
rs1594403453
|
|
NM_001079843.3(CASZ1):c.2816+8G>A
|
rs1184543145
|
|
NM_001079866.2(BCS1L):c.655+1G>C
|
rs1057516802
|
|
NM_001079872.2(CUL4B):c.1386del (p.Phe462fs)
|
rs1602577238
|
|
NM_001079872.2(CUL4B):c.2482A>G (p.Arg828Gly)
|
rs2147318916
|
|
NM_001080.3(ALDH5A1):c.1014+60TG[6]
|
rs199737070
|
|
NM_001080421.3(UNC13A):c.523+6T>C
|
rs2145893220
|
|
NM_001080442.3(SLC38A8):c.388+1G>T
|
rs149436446
|
|
NM_001080449.3(DNA2):c.1644_1647del (p.Asp548fs)
|
rs768077989
|
|
NM_001080467.3(MYO5B):c.2470C>T (p.Arg824Cys)
|
rs777038090
|
|
NM_001080467.3(MYO5B):c.3276+5G>A
|
rs727505395
|
|
NM_001080517.3(SETD5):c.1082G>C (p.Arg361Pro)
|
rs2125212022
|
|
NM_001080517.3(SETD5):c.3855dup (p.Ser1286fs)
|
rs1553641476
|
|
NM_001080517.3(SETD5):c.51A>G (p.Ser17=)
|
rs1394101476
|
|
NM_001080517.3(SETD5):c.922C>T (p.Arg308Ter)
|
rs1421204500
|
|
NM_001080522.2(CC2D2A):c.[4093_4095delGAA];[4595_4596delCT]
|
|
|
NM_001081.4(CUBN):c.8599G>C (p.Val2867Leu)
|
rs1588623316
|
|
NM_001082971.2(DDC):c.440G>T (p.Ser147Ile)
|
rs1585237892
|
|
NM_001082971.2(DDC):c.995A>G (p.Tyr332Cys)
|
rs2153536214
|
|
NM_001083116.3(PRF1):c.1016T>G (p.Val339Gly)
|
rs2132475924
|
|
NM_001083116.3(PRF1):c.148G>A (p.Val50Met)
|
rs776299562
|
|
NM_001083116.3(PRF1):c.1511G>T (p.Gly504Val)
|
rs1848155155
|
|
NM_001083614.2(EARS2):c.209G>T (p.Ser70Ile)
|
rs201941745
|
|
NM_001083614.2(EARS2):c.286G>A (p.Glu96Lys)
|
rs397514593
|
|
NM_001083614.2(EARS2):c.684C>A (p.Tyr228Ter)
|
rs1445826036
|
|
NM_001083619.3(GRIA2):c.1915G>T (p.Ala639Ser)
|
rs1579377564
|
|
NM_001083619.3(GRIA2):c.1927G>A (p.Ala643Thr)
|
rs2126951757
|
|
NM_001083619.3(GRIA2):c.2505C>A (p.Phe835Leu)
|
rs1294146084
|
|
NM_001083962.2(TCF4):c.1438C>T (p.Gln480Ter)
|
rs727505396
|
|
NM_001083962.2(TCF4):c.1486G>A (p.Gly496Ser)
|
rs1599570613
|
|
NM_001083962.2(TCF4):c.1699_1701del (p.Lys567del)
|
rs2144408449
|
|
NM_001083962.2(TCF4):c.327C>A (p.Tyr109Ter)
|
rs1418586166
|
|
NM_001083962.2(TCF4):c.469del (p.Arg157fs)
|
rs1569138023
|
|
NM_001083962.2(TCF4):c.539del (p.Leu180fs)
|
rs1603282307
|
|
NM_001083962.2(TCF4):c.790-2A>G
|
rs1600866162
|
|
NM_001083962.2(TCF4):c.918_922+8del
|
rs1600861021
|
|
NM_001083962.2(TCF4):c.968C>T (p.Ala323Val)
|
rs797045003
|
|
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu)
|
rs141621969
|
|
NM_001098.3(ACO2):c.1966_1969del (p.Arg656fs)
|
rs1601936467
|
|
NM_001098484.3(SLC4A4):c.1904-74_1904-73del
|
rs747897537
|
|
NM_001099271.2(POC5):c.1336G>A (p.Ala446Thr)
|
rs34678567
|
|
NM_001099274.3(TINF2):c.1202dup (p.Asn401fs)
|
rs1180727461
|
|
NM_001099922.3(ALG13):c.120A>C (p.Gln40His)
|
rs2147624939
|
|
NM_001099922.3(ALG13):c.1265G>T (p.Gly422Val)
|
rs2148135895
|
|
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser)
|
rs398122394
|
|
NM_001100.4(ACTA1):c.1004C>G (p.Pro335Arg)
|
rs1057518493
|
|
NM_001100.4(ACTA1):c.1127G>T (p.Cys376Phe)
|
rs1571892196
|
|
NM_001100.4(ACTA1):c.209A>G (p.Lys70Arg)
|
rs1571893885
|
|
NM_001100.4(ACTA1):c.359A>T (p.Lys120Met)
|
rs2102736219
|
|
NM_001100.4(ACTA1):c.762C>G (p.Asn254Lys)
|
rs1571892988
|
|
NM_001100913.3(PACS2):c.2386C>A (p.Arg796=)
|
rs1595193008
|
|
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)
|
rs1555408401
|
|
NM_001101.5(ACTB):c.141G>A (p.Met47Ile)
|
rs2128241411
|
|
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln)
|
rs886039472
|
|
NM_001101362.3(KBTBD13):c.610G>T (p.Val204Leu)
|
rs1334100611
|
|
NM_001102401.4(TTI2):c.1397A>C (p.Asp466Ala)
|
rs2128826581
|
|
NM_001105247.2(ARMC5):c.1864+113del
|
rs2142576031
|
|
NM_001109878.2(TBX22):c.-2-7C>G
|
rs185298778
|
|
NM_001109878.2(TBX22):c.452G>T (p.Arg151Leu)
|
rs368136178
|
|
NM_001110556.2(FLNA):c.3487G>C (p.Val1163Leu)
|
rs2148112185
|
|
NM_001110792.2(MECP2):c.*98dup
|
rs267608341
|
|
NM_001110792.2(MECP2):c.1153_1207del (p.Ser385fs)
|
rs1603307865
|
|
NM_001110792.2(MECP2):c.1169C>G (p.Ala390Gly)
|
rs201314910
|
|
NM_001110792.2(MECP2):c.1173dup (p.Val392fs)
|
rs1557135793
|
|
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)
|
rs267608327
|
|
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs)
|
rs63749748
|
|
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)
|
rs61752992
|
|
NM_001110792.2(MECP2):c.1244C>G (p.Pro415Arg)
|
rs587783107
|
|
NM_001110792.2(MECP2):c.310_311dup (p.Pro105fs)
|
rs267608446
|
|
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)
|
rs28934907
|
|
NM_001110792.2(MECP2):c.3G>A (p.Met1Ile)
|
rs2148770984
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.44_57dup (p.Arg20fs)
|
rs1603341328
|
|
NM_001110792.2(MECP2):c.487G>T (p.Asp163Tyr)
|
rs1557137042
|
|
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg)
|
rs61748404
|
|
NM_001110792.2(MECP2):c.502G>T (p.Asp168Tyr)
|
rs1603309620
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.520A>G (p.Arg174Gly)
|
rs727505391
|
|
NM_001110792.2(MECP2):c.541G>T (p.Glu181Ter)
|
rs1603309480
|
|
NM_001110792.2(MECP2):c.553C>A (p.Pro185Thr)
|
rs61748427
|
|
NM_001110792.2(MECP2):c.618dup (p.Gly207fs)
|
rs2148663602
|
|
NM_001110792.2(MECP2):c.62+1G>A
|
rs786205048
|
|
NM_001110792.2(MECP2):c.62+5469A>T
|
rs1557149865
|
|
NM_001110792.2(MECP2):c.62+5503del
|
rs372915987
|
|
NM_001110792.2(MECP2):c.642del (p.Thr215fs)
|
rs2148663473
|
|
NM_001110792.2(MECP2):c.724C>A (p.Pro242Thr)
|
rs1209806388
|
|
NM_001110792.2(MECP2):c.785dup (p.Gly264fs)
|
rs1603308963
|
|
NM_001110792.2(MECP2):c.803A>G (p.Lys268Arg)
|
rs2148662691
|
|
NM_001110792.2(MECP2):c.940C>G (p.Pro314Ala)
|
rs61751373
|
|
NM_001110792.2(MECP2):c.946AAG[1] (p.Lys317del)
|
rs2148661952
|
|
NM_001110792.2(MECP2):c.997A>G (p.Lys333Glu)
|
rs2148661783
|
|
NM_001111.5(ADAR):c.2729A>G (p.His910Arg)
|
rs1571063283
|
|
NM_001111.5(ADAR):c.3143T>C (p.Leu1048Pro)
|
rs1571050825
|
|
NM_001111.5(ADAR):c.638del (p.Pro213fs)
|
rs1571110353
|
|
NM_001111067.4(ACVR1):c.1067G>A (p.Gly356Asp)
|
rs121912679
|
|
NM_001111125.3(IQSEC2):c.1553T>C (p.Leu518Pro)
|
rs987032967
|
|
NM_001111125.3(IQSEC2):c.1967del (p.Pro656fs)
|
rs1602283534
|
|
NM_001111125.3(IQSEC2):c.2840dup (p.His947fs)
|
rs2147059978
|
|
NM_001111125.3(IQSEC2):c.3028T>A (p.Phe1010Ile)
|
rs1602264353
|
|
NM_001111125.3(IQSEC2):c.3452-1G>A
|
rs2147010401
|
|
NM_001111125.3(IQSEC2):c.3478G>A (p.Gly1160Arg)
|
rs2147010093
|
|
NM_001111125.3(IQSEC2):c.3875dup (p.Pro1293fs)
|
rs1569291627
|
|
NM_001111125.3(IQSEC2):c.4419del (p.Ser1474fs)
|
rs1569290954
|
|
NM_001111125.3(IQSEC2):c.938_939del (p.Ile313fs)
|
rs1602293475
|
|
NM_001112741.2(KCNC1):c.1015C>T (p.Arg339Ter)
|
rs1849236683
|
|
NM_001112741.2(KCNC1):c.959G>A (p.Arg320His)
|
rs727502818
|
|
NM_001113378.2(FANCI):c.2636+11C>G
|
rs1596307878
|
|
NM_001113378.2(FANCI):c.3119del (p.Lys1040fs)
|
rs1596324325
|
|
NM_001113378.2(FANCI):c.3652-70_3652-69del
|
rs11321073
|
|
NM_001114753.3(ENG):c.8G>A (p.Arg3His)
|
rs1588604597
|
|
NM_001122630.2(CDKN1C):c.771C>T (p.Ser257=)
|
rs747104008
|
|
NM_001122752.2(SERPINI1):c.1174G>C (p.Gly392Arg)
|
rs121909054
|
|
NM_001122752.2(SERPINI1):c.829G>A (p.Glu277Lys)
|
rs2108559953
|
|
NM_001122955.4(BSCL2):c.486+1G>T
|
rs1011200048
|
|
NM_001122955.4(BSCL2):c.493_494insAA (p.Met165fs)
|
rs786205069
|
|
NM_001122955.4(BSCL2):c.766-2A>G
|
rs1013079991
|
|
NM_001126049.2(KLLN):c.80G>C (p.Arg27Pro)
|
rs899815496
|
|
NM_001126108.2(SLC12A3):c.1706C>A (p.Ala569Glu)
|
rs79351185
|
|
NM_001126108.2(SLC12A3):c.20_21del (p.Thr7fs)
|
rs750710315
|
|
NM_001127208.3(TET2):c.2029_2032del (p.Cys677fs)
|
rs2110231198
|
|
NM_001127222.2(CACNA1A):c.1035C>G (p.Ile345Met)
|
rs779827819
|
|
NM_001127222.2(CACNA1A):c.1059C>G (p.Asn353Lys)
|
rs1568546593
|
|
NM_001127222.2(CACNA1A):c.2131A>G (p.Ile711Val)
|
rs1568514116
|
|
NM_001127222.2(CACNA1A):c.2720A>G (p.Glu907Gly)
|
rs2144955398
|
|
NM_001127222.2(CACNA1A):c.3515del (p.Pro1172fs)
|
rs1236800371
|
|
NM_001127222.2(CACNA1A):c.3578del (p.Pro1193fs)
|
rs1600242882
|
|
NM_001127222.2(CACNA1A):c.4045G>A (p.Val1349Met)
|
rs1600198481
|
|
NM_001127222.2(CACNA1A):c.4051C>T (p.Arg1351Ter)
|
rs1568473171
|
|
NM_001127222.2(CACNA1A):c.4714A>G (p.Met1572Val)
|
rs2056510928
|
|
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln)
|
rs121908247
|
|
NM_001127222.2(CACNA1A):c.5123T>C (p.Ile1708Thr)
|
rs121909326
|
|
NM_001127222.2(CACNA1A):c.605C>T (p.Pro202Leu)
|
rs2144559262
|
|
NM_001127222.2(CACNA1A):c.6189+4C>A
|
rs2054846468
|
|
NM_001127222.2(CACNA1A):c.644T>C (p.Val215Ala)
|
rs1599292631
|
|
NM_001127222.2(CACNA1A):c.653C>G (p.Ser218Trp)
|
rs121908225
|
|
NM_001127222.2(CACNA1A):c.7266_7271del (p.Ser2423_Gly2424del)
|
rs775428832
|
|
NM_001127255.2(NLRP7):c.1137G>C (p.Lys379Asn)
|
rs10418277
|
|
NM_001127392.3(MYRF):c.3367G>A (p.Ala1123Thr)
|
rs1591137099
|
|
NM_001127644.2(GABRA1):c.268G>A (p.Asp90Asn)
|
rs796052488
|
|
NM_001127644.2(GABRA1):c.559T>G (p.Tyr187Asp)
|
rs2113389254
|
|
NM_001127644.2(GABRA1):c.897T>G (p.Ser299Arg)
|
rs1581220163
|
|
NM_001127644.2(GABRA1):c.902G>A (p.Arg301Lys)
|
rs863225292
|
|
NM_001127895.2(CHST8):c.229C>T (p.Arg77Trp)
|
rs149660944
|
|
NM_001127898.4(CLCN5):c.1027T>C (p.Phe343Leu)
|
rs2147595245
|
|
NM_001127898.4(CLCN5):c.1386_1387del (p.Cys462fs)
|
rs2147596542
|
|
NM_001128126.3(AP4S1):c.295-1G>A
|
rs2139098086
|
|
NM_001128164.2(ATXN1):c.772G>T (p.Gly258Cys)
|
rs144962740
|
|
NM_001128840.3(CACNA1D):c.1013T>G (p.Val338Gly)
|
rs201471889
|
|
NM_001128840.3(CACNA1D):c.2248A>T (p.Ile750Phe)
|
rs1576484361
|
|
NM_001128840.3(CACNA1D):c.3754A>G (p.Met1252Val)
|
rs2108891897
|
|
NM_001130144.3(LTBP3):c.3877_3909dup (p.Pro1293_Arg1303dup)
|
rs2135114515
|
|
NM_001130145.3(YAP1):c.257T>C (p.Met86Thr)
|
rs2135086778
|
|
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])
|
rs587784440
|
|
NM_001130438.3(SPTAN1):c.6905_6946dup (p.Leu2302_Gln2315dup)
|
rs2132089818
|
|
NM_001130823.3(DNMT1):c.1619A>G (p.Tyr540Cys)
|
rs1599366421
|
|
NM_001130823.3(DNMT1):c.3458_3466dup (p.Pro1153_Leu1155dup)
|
rs1449036579
|
|
NM_001130823.3(DNMT1):c.4641G>T (p.Glu1547Asp)
|
rs2145253354
|
|
NM_001130987.2(DYSF):c.460+2T>G
|
rs750356247
|
|
NM_001134407.3(GRIN2A):c.1328A>G (p.Asn443Ser)
|
rs1596494610
|
|
NM_001134407.3(GRIN2A):c.2450T>C (p.Met817Thr)
|
rs1064796608
|
|
NM_001134407.3(GRIN2A):c.2453C>A (p.Ala818Glu)
|
rs751455326
|
|
NM_001134407.3(GRIN2A):c.250A>T (p.Thr84Ser)
|
rs1006328489
|
|
NM_001134407.3(GRIN2A):c.3032G>T (p.Arg1011Leu)
|
rs1163766811
|
|
NM_001134407.3(GRIN2A):c.314A>G (p.Asp105Gly)
|
rs797045015
|
|
NM_001134407.3(GRIN2A):c.3317_3318insTTTTTTTTTTAAT (p.Lys1107fs)
|
rs1419346546
|
|
NM_001134407.3(GRIN2A):c.3320A>T (p.Lys1107Ile)
|
rs1185300490
|
|
NM_001134407.3(GRIN2A):c.3321_3322insCGGCG (p.Thr1108fs)
|
rs1215972111
|
|
NM_001134407.3(GRIN2A):c.3339_3342del (p.Arg1114fs)
|
rs1379582796
|
|
NM_001134407.3(GRIN2A):c.3345_3347del (p.Asp1115_Lys1116delinsGlu)
|
rs1440127051
|
|
NM_001134407.3(GRIN2A):c.3712G>A (p.Ala1238Thr)
|
rs2141129928
|
|
NM_001134407.3(GRIN2A):c.3G>T (p.Met1Ile)
|
rs868762895
|
|
NM_001134407.3(GRIN2A):c.4320del (p.Thr1441fs)
|
rs2141124790
|
|
NM_001134771.2(SLC12A5):c.121+1091A>G
|
rs58366483
|
|
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_001134831.2(AHI1):c.1205del (p.Pro402fs)
|
rs794729195
|
|
NM_001134831.2(AHI1):c.1779G>T (p.Gln593His)
|
rs1583276758
|
|
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro)
|
rs374009466
|
|
NM_001134831.2(AHI1):c.2623+1G>T
|
rs751823180
|
|
NM_001134831.2(AHI1):c.2742del (p.Leu915fs)
|
rs1583179845
|
|
NM_001135998.3(NDUFB11):c.416C>T (p.Ser139Phe)
|
rs2147049461
|
|
NM_001136193.2(FASTKD2):c.1294C>T (p.Arg432Ter)
|
rs118203917
|
|
NM_001136193.2(FASTKD2):c.1865A>G (p.Asp622Gly)
|
rs751773316
|
|
NM_001136193.2(FASTKD2):c.1898G>T (p.Arg633Ile)
|
rs1574675756
|
|
NM_001139.3(ALOX12B):c.435-2A>G
|
rs1598181642
|
|
NM_001142416.2(AIMP1):c.162del (p.Lys54fs)
|
rs750731609
|
|
NM_001142800.2(EYS):c.1299+5_1299+8del
|
rs1562140604
|
|
NM_001142800.2(EYS):c.1328dup (p.Asn443fs)
|
rs1582176424
|
|
NM_001142800.2(EYS):c.2055_2056del (p.Ala686fs)
|
rs1583442540
|
|
NM_001142800.2(EYS):c.2748C>A (p.Cys916Ter)
|
rs1391928253
|
|
NM_001142800.2(EYS):c.2820_2824del (p.Gly941fs)
|
rs1583277585
|
|
NM_001142800.2(EYS):c.2981del (p.Pro994fs)
|
rs1583260302
|
|
NM_001142800.2(EYS):c.4073del (p.Pro1358fs)
|
rs2149832474
|
|
NM_001142800.2(EYS):c.4977_4978del (p.Cys1660fs)
|
rs2149831647
|
|
NM_001142800.2(EYS):c.5182del (p.Ser1728fs)
|
rs1562079278
|
|
NM_001142800.2(EYS):c.5450G>A (p.Trp1817Ter)
|
rs983691310
|
|
NM_001142800.2(EYS):c.7572G>A (p.Trp2524Ter)
|
rs902462590
|
|
NM_001142800.2(EYS):c.8408dup (p.Asn2803fs)
|
rs398123576
|
|
NM_001142800.2(EYS):c.8590G>T (p.Gly2864Ter)
|
rs1582140331
|
|
NM_001142800.2(EYS):c.8750T>A (p.Leu2917Ter)
|
rs764362221
|
|
NM_001142800.2(EYS):c.8830del (p.Val2944fs)
|
rs776526721
|
|
NM_001142800.2(EYS):c.9186_9187del (p.Asn3062fs)
|
rs886044149
|
|
NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs)
|
rs769824975
|
|
NM_001142800.2(EYS):c.9354dup (p.Gln3119fs)
|
rs771640639
|
|
NM_001142800.2(EYS):c.9376_9379del (p.Ile3127fs)
|
rs1166245419
|
|
NM_001144061.2(COPB1):c.-57-2A>G
|
|
|
NM_001145026.2(PTPRQ):c.6452_6453+2del
|
rs1419198127
|
|
NM_001145252.3(CFP):c.985C>T (p.Arg329Ter)
|
rs1603083122
|
|
NM_001145358.2(SIN3A):c.2006T>A (p.Leu669His)
|
rs1595897117
|
|
NM_001146262.4(SYT14):c.672AGA[1] (p.Glu225del)
|
rs2307890
|
|
NM_001148.6(ANK2):c.11574del (p.Cys3859fs)
|
rs2154067204
|
|
NM_001148.6(ANK2):c.2806C>G (p.Leu936Val)
|
rs786205725
|
|
NM_001161352.2(KCNMA1):c.1437del (p.Lys480fs)
|
rs2153773364
|
|
NM_001161352.2(KCNMA1):c.179C>T (p.Ser60Leu)
|
rs768769748
|
|
NM_001161748.2(LIM2):c.388C>T (p.Arg130Cys)
|
rs1568480054
|
|
NM_001162498.3(LPAR6):c.1A>G (p.Met1Val)
|
rs2138204557
|
|
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_001162498.3(LPAR6):c.368_369insAAAAAAAA (p.Ser124fs)
|
rs1370123231
|
|
NM_001162498.3(LPAR6):c.369_370del (p.Lys123fs)
|
rs1177544722
|
|
NM_001164277.2(SLC37A4):c.1124+3_1124+6del
|
rs782612223
|
|
NM_001164277.2(SLC37A4):c.527= (p.Cys176=)
|
rs56966114
|
|
NM_001164277.2(SLC37A4):c.703GTG[1] (p.Val236del)
|
rs121908977
|
|
NM_001164277.2(SLC37A4):c.818del (p.Gly273fs)
|
rs1592111112
|
|
NM_001164277.2(SLC37A4):c.899G>A (p.Arg300His)
|
rs193302903
|
|
NM_001164508.2(NEB):c.10612C>T (p.Arg3538Ter)
|
rs779909544
|
|
NM_001164508.2(NEB):c.1674+2T>C
|
rs1553603437
|
|
NM_001164508.2(NEB):c.17635-3dup
|
rs3214503
|
|
NM_001164508.2(NEB):c.19102-10_19102-4del
|
rs1577576425
|
|
NM_001164508.2(NEB):c.20467-2A>C
|
rs1392500142
|
|
NM_001164508.2(NEB):c.22272+2dup
|
rs773465809
|
|
NM_001164508.2(NEB):c.22327C>T (p.Arg7443Ter)
|
rs1576203853
|
|
NM_001164508.2(NEB):c.22748C>G (p.Pro7583Arg)
|
rs1575897069
|
|
NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter)
|
rs1575714905
|
|
NM_001164508.2(NEB):c.23847del (p.Glu7950fs)
|
rs1575305566
|
|
NM_001164508.2(NEB):c.24089_24092dup (p.His8031fs)
|
rs2153020985
|
|
NM_001164508.2(NEB):c.24113C>T (p.Ser8038Leu)
|
rs1458048713
|
|
NM_001164508.2(NEB):c.24189_24192dup (p.Glu8065fs)
|
rs1553555882
|
|
NM_001164508.2(NEB):c.2943G>A (p.Glu981=)
|
rs398124170
|
|
NM_001164508.2(NEB):c.870_873del (p.Ser290fs)
|
rs2150050727
|
|
NM_001164508.2(NEB):c.8889+1G>A
|
rs1553963960
|
|
NM_001165963.4(SCN1A):c.1007G>A (p.Cys336Tyr)
|
rs794726798
|
|
NM_001165963.4(SCN1A):c.1019C>A (p.Ser340Tyr)
|
rs2105874070
|
|
NM_001165963.4(SCN1A):c.1028+1G>A
|
rs863225030
|
|
NM_001165963.4(SCN1A):c.1048_1051del (p.Met350fs)
|
rs2105868028
|
|
NM_001165963.4(SCN1A):c.1077T>A (p.Asn359Lys)
|
rs1574240716
|
|
NM_001165963.4(SCN1A):c.1177C>T (p.Arg393Cys)
|
rs121917929
|
|
NM_001165963.4(SCN1A):c.1178G>A (p.Arg393His)
|
rs121917927
|
|
NM_001165963.4(SCN1A):c.1204T>A (p.Phe402Ile)
|
rs796053094
|
|
NM_001165963.4(SCN1A):c.126dup (p.Asp43fs)
|
rs1553560831
|
|
NM_001165963.4(SCN1A):c.1543A>T (p.Lys515Ter)
|
rs1553545567
|
|
NM_001165963.4(SCN1A):c.1751_1752dup (p.Gly585fs)
|
rs2105844086
|
|
NM_001165963.4(SCN1A):c.1810dup (p.Arg604fs)
|
rs1574217232
|
|
NM_001165963.4(SCN1A):c.1898C>T (p.Ala633Val)
|
rs1574215846
|
|
NM_001165963.4(SCN1A):c.195T>G (p.Tyr65Ter)
|
rs1684672231
|
|
NM_001165963.4(SCN1A):c.1969_1975del (p.Pro657fs)
|
rs2105841790
|
|
NM_001165963.4(SCN1A):c.2012T>C (p.Val671Ala)
|
rs1574214843
|
|
NM_001165963.4(SCN1A):c.207del (p.Pro70fs)
|
rs1574371902
|
|
NM_001165963.4(SCN1A):c.2131C>T (p.Gln711Ter)
|
rs1574209023
|
|
NM_001165963.4(SCN1A):c.2147_2150del (p.Ile716fs)
|
rs1574208760
|
|
NM_001165963.4(SCN1A):c.2177-2A>T
|
rs1436792531
|
|
NM_001165963.4(SCN1A):c.2214G>A (p.Trp738Ter)
|
rs786205214
|
|
NM_001165963.4(SCN1A):c.2287del (p.Leu763fs)
|
rs2105828550
|
|
NM_001165963.4(SCN1A):c.2350_2351del (p.Phe784fs)
|
rs1553543215
|
|
NM_001165963.4(SCN1A):c.2392A>G (p.Asn798Asp)
|
rs2105827436
|
|
NM_001165963.4(SCN1A):c.2415+1G>A
|
rs886041292
|
|
NM_001165963.4(SCN1A):c.2475C>A (p.Tyr825Ter)
|
rs1696880667
|
|
NM_001165963.4(SCN1A):c.2575C>T (p.Arg859Cys)
|
rs121918784
|
|
NM_001165963.4(SCN1A):c.2585G>T (p.Arg862Leu)
|
rs121918785
|
|
NM_001165963.4(SCN1A):c.2589+3A>G
|
rs794726775
|
|
NM_001165963.4(SCN1A):c.2594G>A (p.Arg865Gln)
|
rs1057517862
|
|
NM_001165963.4(SCN1A):c.2624C>A (p.Thr875Lys)
|
rs121918623
|
|
NM_001165963.4(SCN1A):c.262_264+1del
|
rs1574371141
|
|
NM_001165963.4(SCN1A):c.2644del (p.Ile882fs)
|
rs2105808458
|
|
NM_001165963.4(SCN1A):c.2691G>T (p.Leu897Phe)
|
rs1574183148
|
|
NM_001165963.4(SCN1A):c.2779T>C (p.Cys927Arg)
|
rs2105807206
|
|
NM_001165963.4(SCN1A):c.2801T>G (p.Met934Arg)
|
rs796052987
|
|
NM_001165963.4(SCN1A):c.2806G>T (p.Asp936Tyr)
|
rs796052988
|
|
NM_001165963.4(SCN1A):c.2878A>G (p.Met960Val)
|
rs121918750
|
|
NM_001165963.4(SCN1A):c.2948T>G (p.Val983Gly)
|
rs121918756
|
|
NM_001165963.4(SCN1A):c.2951T>C (p.Leu984Pro)
|
rs2105797671
|
|
NM_001165963.4(SCN1A):c.2958_2959del (p.Phe987fs)
|
rs794729207
|
|
NM_001165963.4(SCN1A):c.323T>A (p.Leu108Gln)
|
rs794726793
|
|
NM_001165963.4(SCN1A):c.3311C>G (p.Ser1104Ter)
|
rs1574168611
|
|
NM_001165963.4(SCN1A):c.3383_3390del (p.Asn1128fs)
|
rs2105793286
|
|
NM_001165963.4(SCN1A):c.3429+1G>T
|
rs1574166948
|
|
NM_001165963.4(SCN1A):c.3496C>T (p.Gln1166Ter)
|
rs368609628
|
|
NM_001165963.4(SCN1A):c.3531_3534dup (p.Ala1179fs)
|
rs1574069132
|
|
NM_001165963.4(SCN1A):c.354G>T (p.Arg118Ser)
|
rs121917959
|
|
NM_001165963.4(SCN1A):c.3611G>A (p.Trp1204Ter)
|
rs1559149128
|
|
NM_001165963.4(SCN1A):c.3705+5G>A
|
rs1060502189
|
|
NM_001165963.4(SCN1A):c.3757_3763dup (p.Ala1255fs)
|
rs1574052179
|
|
NM_001165963.4(SCN1A):c.379C>T (p.His127Tyr)
|
rs148442069
|
|
NM_001165963.4(SCN1A):c.3824G>A (p.Gly1275Asp)
|
rs796053000
|
|
NM_001165963.4(SCN1A):c.384-12A>C
|
rs1574291210
|
|
NM_001165963.4(SCN1A):c.3850T>C (p.Trp1284Arg)
|
rs796053001
|
|
NM_001165963.4(SCN1A):c.3950C>G (p.Thr1317Arg)
|
rs2105570237
|
|
NM_001165963.4(SCN1A):c.4003-14C>T
|
rs1241008825
|
|
NM_001165963.4(SCN1A):c.4003-1G>A
|
rs1574007140
|
|
NM_001165963.4(SCN1A):c.404T>C (p.Met135Thr)
|
rs1574290850
|
|
NM_001165963.4(SCN1A):c.4055T>A (p.Leu1352Gln)
|
rs794726821
|
|
NM_001165963.4(SCN1A):c.4112G>A (p.Gly1371Asp)
|
rs865867764
|
|
NM_001165963.4(SCN1A):c.4146del (p.Asp1383fs)
|
rs1574005699
|
|
NM_001165963.4(SCN1A):c.4284+2del
|
rs2105507548
|
|
NM_001165963.4(SCN1A):c.4327G>A (p.Asp1443Asn)
|
rs1573991676
|
|
NM_001165963.4(SCN1A):c.4428C>A (p.Asn1476Lys)
|
rs1573984110
|
|
NM_001165963.4(SCN1A):c.4429del (p.Leu1477fs)
|
rs2105475986
|
|
NM_001165963.4(SCN1A):c.4444A>C (p.Ile1482Leu)
|
rs794729200
|
|
NM_001165963.4(SCN1A):c.4539dup (p.Leu1514fs)
|
rs1573973548
|
|
NM_001165963.4(SCN1A):c.4581+1G>A
|
rs1689986058
|
|
NM_001165963.4(SCN1A):c.4704T>A (p.Tyr1568Ter)
|
rs1573963975
|
|
NM_001165963.4(SCN1A):c.473+1G>A
|
rs794726840
|
|
NM_001165963.4(SCN1A):c.4862T>C (p.Leu1621Pro)
|
rs1573953706
|
|
NM_001165963.4(SCN1A):c.5005G>A (p.Ala1669Thr)
|
rs2105433731
|
|
NM_001165963.4(SCN1A):c.5075T>C (p.Phe1692Ser)
|
rs121918778
|
|
NM_001165963.4(SCN1A):c.5177G>C (p.Trp1726Ser)
|
rs2105431458
|
|
NM_001165963.4(SCN1A):c.5217del (p.Asp1740fs)
|
rs1573949198
|
|
NM_001165963.4(SCN1A):c.5261G>A (p.Gly1754Glu)
|
rs796053036
|
|
NM_001165963.4(SCN1A):c.5285G>A (p.Gly1762Glu)
|
rs121917950
|
|
NM_001165963.4(SCN1A):c.5318_5324del (p.Ser1773fs)
|
rs2105429397
|
|
NM_001165963.4(SCN1A):c.5492T>A (p.Phe1831Tyr)
|
rs121918748
|
|
NM_001165963.4(SCN1A):c.5531C>T (p.Pro1844Leu)
|
rs2105426648
|
|
NM_001165963.4(SCN1A):c.5534A>C (p.Asn1845Thr)
|
rs1689190343
|
|
NM_001165963.4(SCN1A):c.5681T>C (p.Met1894Thr)
|
rs562208324
|
|
NM_001165963.4(SCN1A):c.5711del (p.Gln1904fs)
|
rs2105424093
|
|
NM_001165963.4(SCN1A):c.5769G>C (p.Gln1923His)
|
rs2105423415
|
|
NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn)
|
rs121917935
|
|
NM_001165963.4(SCN1A):c.602+3_602+6del
|
rs1698937795
|
|
NM_001165963.4(SCN1A):c.635T>C (p.Val212Ala)
|
rs551068385
|
|
NM_001165963.4(SCN1A):c.683C>T (p.Ser228Leu)
|
rs1574271644
|
|
NM_001165963.4(SCN1A):c.684del (p.Val229fs)
|
rs1574271602
|
|
NM_001165963.4(SCN1A):c.716C>A (p.Ala239Asp)
|
rs121917909
|
|
NM_001165963.4(SCN1A):c.830G>A (p.Cys277Tyr)
|
rs1574264920
|
|
NM_001165963.4(SCN1A):c.839G>A (p.Trp280Ter)
|
rs1698593264
|
|
NM_001165963.4(SCN1A):c.929_930del (p.Val309_Phe310insTer)
|
rs2105888823
|
|
NM_001165963.4(SCN1A):c.942G>T (p.Trp314Cys)
|
rs1553549471
|
|
NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val)
|
rs779184118
|
|
NM_001167.4(XIAP):c.1141C>T (p.Arg381Ter)
|
rs1556408009
|
|
NM_001167.4(XIAP):c.1458del (p.Val487fs)
|
rs1602562990
|
|
NM_001167.4(XIAP):c.609dup (p.Gly204fs)
|
rs1602544507
|
|
NM_001170535.3(ATAD3A):c.1361A>G (p.Asn454Ser)
|
rs2100677960
|
|
NM_001170535.3(ATAD3A):c.760C>G (p.Leu254Val)
|
rs1170486513
|
|
NM_001170629.2(CHD8):c.4440G>T (p.Glu1480Asp)
|
rs2139462537
|
|
NM_001170629.2(CHD8):c.6002del (p.Pro2001fs)
|
rs2139447345
|
|
NM_001170629.2(CHD8):c.6853AAG[2] (p.Lys2287del)
|
rs755776815
|
|
NM_001171.6(ABCC6):c.1609del (p.Val537fs)
|
rs1596678798
|
|
NM_001171.6(ABCC6):c.2338del (p.Leu780fs)
|
rs1596649191
|
|
NM_001171613.2(PREPL):c.1729G>T (p.Glu577Ter)
|
rs983509465
|
|
NM_001172509.2(SATB2):c.1196G>A (p.Arg399His)
|
rs1057518190
|
|
NM_001172509.2(SATB2):c.474-2A>G
|
rs1574566973
|
|
NM_001172509.2(SATB2):c.925C>T (p.Gln309Ter)
|
rs1574532452
|
|
NM_001173523.2(PCDH7):c.2150G>C (p.Gly717Ala)
|
rs1168242393
|
|
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_001177316.2(SLC34A3):c.1058G>T (p.Arg353Leu)
|
rs121918234
|
|
NM_001177316.2(SLC34A3):c.1217G>T (p.Gly406Val)
|
rs139408872
|
|
NM_001182.5(ALDH7A1):c.246+7GT[16]
|
rs142510783
|
|
NM_001182.5(ALDH7A1):c.509C>T (p.Pro170Leu)
|
rs2112802656
|
|
NM_001182.5(ALDH7A1):c.914-118dup
|
rs759132307
|
|
NM_001184.4(ATR):c.1885+65ATTT[8]
|
rs56661838
|
|
NM_001184.4(ATR):c.2305C>A (p.Leu769Ile)
|
rs1489808838
|
|
NM_001184.4(ATR):c.2327G>C (p.Ser776Thr)
|
rs979155439
|
|
NM_001184880.2(PCDH19):c.1031C>G (p.Pro344Arg)
|
rs796052811
|
|
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs)
|
rs758946412
|
|
NM_001184880.2(PCDH19):c.1118dup (p.Ser374fs)
|
rs2147539591
|
|
NM_001184880.2(PCDH19):c.1172del (p.Asn391fs)
|
rs1602636591
|
|
NM_001184880.2(PCDH19):c.134_135del (p.Asp45fs)
|
rs1602638456
|
|
NM_001184880.2(PCDH19):c.1442A>G (p.Asp481Gly)
|
rs1602636096
|
|
NM_001184880.2(PCDH19):c.1535C>A (p.Ser512Ter)
|
rs779665170
|
|
NM_001184880.2(PCDH19):c.1623del (p.Ser542fs)
|
rs1602635781
|
|
NM_001184880.2(PCDH19):c.1787A>G (p.Asp596Gly)
|
rs2147537831
|
|
NM_001184880.2(PCDH19):c.1925T>G (p.Val642Gly)
|
rs1602635282
|
|
NM_001184880.2(PCDH19):c.1938C>A (p.Asp646Glu)
|
rs1602635261
|
|
NM_001184880.2(PCDH19):c.2341dup (p.Ile781fs)
|
rs1060502175
|
|
NM_001184880.2(PCDH19):c.260_292del (p.Ile87_Pro97del)
|
rs1602638228
|
|
NM_001184880.2(PCDH19):c.2624del (p.Asn875fs)
|
rs34651888
|
|
NM_001184880.2(PCDH19):c.2697dup (p.Glu900fs)
|
rs1602595101
|
|
NM_001184880.2(PCDH19):c.3404_3405del (p.Lys1135fs)
|
rs999749949
|
|
NM_001184880.2(PCDH19):c.493A>C (p.Thr165Pro)
|
rs2147541749
|
|
NM_001184880.2(PCDH19):c.498C>A (p.Tyr166Ter)
|
rs796052837
|
|
NM_001184880.2(PCDH19):c.729C>A (p.Tyr243Ter)
|
rs1166554052
|
|
NM_001184880.2(PCDH19):c.937G>T (p.Glu313Ter)
|
rs1602636952
|
|
NM_001184880.2(PCDH19):c.959A>T (p.Asp320Val)
|
rs1602636925
|
|
NM_001189.4(NKX3-2):c.104_110del (p.Ala35fs)
|
rs606231354
|
|
NM_001190274.2(FBXO11):c.*906G>T
|
rs1572751620
|
|
NM_001190274.2(FBXO11):c.1076A>G (p.Asn359Ser)
|
rs1572806551
|
|
NM_001190274.2(FBXO11):c.191_199dup (p.Pro64_Pro66dup)
|
rs977093129
|
|
NM_001191061.2(SLC25A22):c.-164+135dup
|
rs1312807369
|
|
NM_001194998.2(CEP152):c.4378_4379del (p.Val1460fs)
|
rs141600901
|
|
NM_001195248.2(APTX):c.484-3_484-2insTTTTTTTTTTTG
|
rs1554664711
|
|
NM_001195553.2(DCX):c.266G>A (p.Arg89Gln)
|
rs61729440
|
|
NM_001197104.2(KMT2A):c.10802A>G (p.Gln3601Arg)
|
rs1591288712
|
|
NM_001197104.2(KMT2A):c.11785A>C (p.Ile3929Leu)
|
rs1591312430
|
|
NM_001197104.2(KMT2A):c.173dup (p.Ala59fs)
|
rs1555138552
|
|
NM_001197104.2(KMT2A):c.2318dup (p.Ser774fs)
|
rs782297546
|
|
NM_001197104.2(KMT2A):c.3019G>T (p.Gly1007Cys)
|
rs940325244
|
|
NM_001197104.2(KMT2A):c.3455C>A (p.Ser1152Ter)
|
rs1591381084
|
|
NM_001197104.2(KMT2A):c.3461G>A (p.Arg1154Gln)
|
rs1131691799
|
|
NM_001197104.2(KMT2A):c.3462del (p.Cys1155fs)
|
rs2134286994
|
|
NM_001197104.2(KMT2A):c.3547A>G (p.Asn1183Asp)
|
rs2134287568
|
|
NM_001197104.2(KMT2A):c.3592C>T (p.Gln1198Ter)
|
rs1591383060
|
|
NM_001197104.2(KMT2A):c.3680_3683del (p.Asp1227fs)
|
rs1591384640
|
|
NM_001197104.2(KMT2A):c.4367A>G (p.His1456Arg)
|
rs1131691433
|
|
NM_001197104.2(KMT2A):c.4429CGT[1] (p.Arg1478del)
|
rs1591393351
|
|
NM_001197104.2(KMT2A):c.502+1G>A
|
rs1591371152
|
|
NM_001197104.2(KMT2A):c.5431C>T (p.Arg1811Ter)
|
rs1555043796
|
|
NM_001197104.2(KMT2A):c.6989del (p.Gly2330fs)
|
rs2134387390
|
|
NM_001197104.2(KMT2A):c.7643del (p.Ala2548fs)
|
rs1591282224
|
|
NM_001197104.2(KMT2A):c.7899del (p.Thr2635fs)
|
rs1591282615
|
|
NM_001197104.2(KMT2A):c.7914T>A (p.Tyr2638Ter)
|
rs1385902057
|
|
NM_001197104.2(KMT2A):c.8204_8225del (p.Ala2735fs)
|
rs2134397119
|
|
NM_001198800.3(ASCC1):c.157dup (p.Glu53fs)
|
rs753324947
|
|
NM_001201543.2(FAM161A):c.1783C>A (p.Gln595Lys)
|
rs1200918073
|
|
NM_001204.7(BMPR2):c.1021G>A (p.Val341Met)
|
rs767882551
|
|
NM_001204077.2(UBE4A):c.1185_1186del (p.Lys396fs)
|
rs1565532385
|
|
NM_001205293.3(CACNA1E):c.2104G>A (p.Ala702Thr)
|
rs12131800
|
|
NM_001205293.3(CACNA1E):c.2366T>C (p.Met789Thr)
|
rs2102549069
|
|
NM_001205293.3(CACNA1E):c.3940A>C (p.Lys1314Gln)
|
rs2102682130
|
|
NM_001206744.2(TPO):c.2644C>G (p.Leu882Val)
|
rs1572058655
|
|
NM_001211.6(BUB1B):c.385-2460_385-2453dup
|
rs979967281
|
|
NM_001220.5(CAMK2B):c.1636A>C (p.Ile546Leu)
|
rs2128862429
|
|
NM_001220.5(CAMK2B):c.70G>T (p.Ala24Ser)
|
rs2129104026
|
|
NM_001231.5(CASQ1):c.448G>T (p.Val150Leu)
|
rs775466623
|
|
NM_001232.4(CASQ2):c.381C>T (p.Gly127=)
|
rs775663612
|
|
NM_001242896.3(DEPDC5):c.2516G>T (p.Gly839Val)
|
rs1602349641
|
|
NM_001242896.3(DEPDC5):c.436dup (p.Val146fs)
|
rs2148328679
|
|
NM_001242896.3(DEPDC5):c.779A>G (p.Gln260Arg)
|
rs1601925119
|
|
NM_001242896.3(DEPDC5):c.947-1G>A
|
rs2148633437
|
|
NM_001244008.2(KIF1A):c.1294C>A (p.Arg432Ser)
|
rs763524814
|
|
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu)
|
rs672601362
|
|
NM_001244008.2(KIF1A):c.233G>A (p.Gly78Asp)
|
rs1575637048
|
|
NM_001244008.2(KIF1A):c.2721GGA[9] (p.Glu916_Glu917del)
|
rs10594016
|
|
NM_001244008.2(KIF1A):c.470T>C (p.Leu157Pro)
|
rs1575631836
|
|
NM_001244008.2(KIF1A):c.653A>G (p.His218Arg)
|
rs2126062571
|
|
NM_001244008.2(KIF1A):c.802G>A (p.Gly268Arg)
|
rs1575624664
|
|
NM_001244710.2(GFPT1):c.223+6G>A
|
rs1295165260
|
|
NM_001252024.2(TRPM1):c.2149G>C (p.Ala717Pro)
|
rs138944426
|
|
NM_001256071.3(RNF213):c.12022G>T (p.Val4008Phe)
|
rs762259446
|
|
NM_001256071.3(RNF213):c.12942+97del
|
rs142169239
|
|
NM_001256071.3(RNF213):c.6169G>A (p.Asp2057Asn)
|
rs768740459
|
|
NM_001256447.2(BCAP31):c.415C>T (p.Gln139Ter)
|
rs1603223001
|
|
NM_001264.5(CDSN):c.1459G>A (p.Gly487Ser)
|
rs1246486951
|
|
NM_001267550.2(TTN):c.106531+1G>A
|
rs760915007
|
|
NM_001267550.2(TTN):c.19156C>T (p.Gln6386Ter)
|
rs1578126437
|
|
NM_001267550.2(TTN):c.30683-3del
|
rs368277751
|
|
NM_001267550.2(TTN):c.3304G>A (p.Gly1102Arg)
|
rs1016142990
|
|
NM_001267550.2(TTN):c.35154dup (p.Val11719fs)
|
rs2067087661
|
|
NM_001267550.2(TTN):c.65863+1G>A
|
rs2154178615
|
|
NM_001267550.2(TTN):c.669+1G>A
|
rs1574982376
|
|
NM_001267550.2(TTN):c.72503T>G (p.Leu24168Trp)
|
rs964700696
|
|
NM_001267550.2(TTN):c.95185T>C (p.Trp31729Arg)
|
rs869320741
|
|
NM_001270.4(CHD1):c.2983A>G (p.Ile995Val)
|
rs2112391566
|
|
NM_001270974.2(HYDIN):c.13900-73A>G
|
rs1770438
|
|
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu)
|
rs1060503519
|
|
NM_001271.4(CHD2):c.190T>A (p.Ser64Thr)
|
rs2141746050
|
|
NM_001271.4(CHD2):c.2675A>G (p.Gln892Arg)
|
rs1596427970
|
|
NM_001271.4(CHD2):c.3187G>T (p.Glu1063Ter)
|
rs1596436494
|
|
NM_001271.4(CHD2):c.3214C>T (p.Arg1072Ter)
|
rs767106034
|
|
NM_001271.4(CHD2):c.3735del (p.Lys1245fs)
|
rs752940775
|
|
NM_001271.4(CHD2):c.3735dup (p.Tyr1246fs)
|
rs752940775
|
|
NM_001271.4(CHD2):c.4173del (p.Lys1391fs)
|
rs749969667
|
|
NM_001271.4(CHD2):c.522del (p.Lys174_Val175insTer)
|
rs748694853
|
|
NM_001273.5(CHD4):c.3403C>G (p.Leu1135Val)
|
rs1592270989
|
|
NM_001273.5(CHD4):c.4610C>T (p.Ser1537Phe)
|
rs2136202008
|
|
NM_001273.5(CHD4):c.4676C>G (p.Pro1559Arg)
|
rs1308724810
|
|
NM_001276345.2(TNNT2):c.53-11_53-7del
|
rs45533739
|
|
NM_001277115.2(DNAH11):c.13069C>T (p.Arg4357Ter)
|
rs775720394
|
|
NM_001277115.2(DNAH11):c.13500_13504del (p.Glu4500fs)
|
rs72658839
|
|
NM_001277115.2(DNAH11):c.2923G>T (p.Glu975Ter)
|
rs776980207
|
|
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_001278116.2(L1CAM):c.2440dup (p.Ala814fs)
|
rs1603274424
|
|
NM_001278116.2(L1CAM):c.3G>A (p.Met1Ile)
|
rs1603277433
|
|
NM_001278293.3(ARL6):c.4G>T (p.Gly2Ter)
|
rs771628868
|
|
NM_001278512.2(AP3B2):c.392_394del (p.Leu131del)
|
rs1596183293
|
|
NM_001278716.2(FBXL4):c.1673G>A (p.Cys558Tyr)
|
rs995995791
|
|
NM_001278716.2(FBXL4):c.622G>T (p.Glu208Ter)
|
rs1582425406
|
|
NM_001282531.3(ADNP):c.-5-1G>C
|
rs1064796656
|
|
NM_001282531.3(ADNP):c.190dup (p.Thr64fs)
|
rs886041741
|
|
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter)
|
rs1135401808
|
|
NM_001282531.3(ADNP):c.2157_2159del (p.Tyr719_Glu720delinsTer)
|
rs1600930118
|
|
NM_001282531.3(ADNP):c.232G>A (p.Ala78Thr)
|
rs2122765289
|
|
NM_001282531.3(ADNP):c.2424_2427del (p.Lys809fs)
|
rs2122743279
|
|
NM_001282531.3(ADNP):c.2978C>G (p.Pro993Arg)
|
rs1251589256
|
|
NM_001282531.3(ADNP):c.422_424dup (p.Ser141dup)
|
rs577498739
|
|
NM_001282531.3(ADNP):c.539_542del (p.Val180fs)
|
rs1057518345
|
|
NM_001282534.2(KCNK9):c.25C>G (p.Leu9Val)
|
rs1166889219
|
|
NM_001283009.2(RTEL1):c.2852-1G>C
|
rs2145448526
|
|
NM_001283009.2(RTEL1):c.2992+8G>A
|
rs1236751268
|
|
NM_001286577.2(C2CD3):c.5500G>T (p.Asp1834Tyr)
|
rs1591315135
|
|
NM_001287.6(CLCN7):c.1562G>C (p.Gly521Ala)
|
rs1261991162
|
|
NM_001287.6(CLCN7):c.2021G>A (p.Arg674Gln)
|
rs758816489
|
|
NM_001287.6(CLCN7):c.2066del (p.Lys689fs)
|
rs2142366092
|
|
NM_001287344.2(BTK):c.27G>A (p.Met9Ile)
|
rs1352616578
|
|
NM_001288705.3(CSF1R):c.2498C>A (p.Thr833Lys)
|
rs780804532
|
|
NM_001288705.3(CSF1R):c.2531T>C (p.Leu844Pro)
|
rs1581279568
|
|
NM_001289104.2(PRKCSH):c.683+1G>A
|
rs2144837651
|
|
NM_001289125.3(IFNAR2):c.541-50A>G
|
|
|
NM_001291088.2(WDR87):c.6889GAGGAGGAGGAGGAAAGG[1] (p.2285EEEEER[3])
|
rs763153590
|
|
NM_001291415.2(KDM6A):c.679G>A (p.Ala227Thr)
|
rs2147916939
|
|
NM_001291867.2(NHS):c.719-1G>A
|
rs1601838818
|
|
NM_001292034.3(TAB2):c.1491T>G (p.Tyr497Ter)
|
rs1562443558
|
|
NM_001294332.1(SDHA):c.[313-449G>C;1405A>G]
|
|
|
NM_001297.5(CNGB1):c.1122-2A>T
|
rs1596997875
|
|
NM_001297.5(CNGB1):c.1958-1G>A
|
rs888090139
|
|
NM_001298.3(CNGA3):c.545A>G (p.Asn182Ser)
|
rs2104229897
|
|
NM_001298.3(CNGA3):c.674-1G>A
|
rs949254623
|
|
NM_001301131.2(POLR2F):c.293+19033A>T
|
rs2145781829
|
|
NM_001301202.2(RASAL1):c.-64C>T
|
rs1389672398
|
|
NM_001301202.2(RASAL1):c.1775G>A (p.Arg592His)
|
|
|
NM_001301202.2(RASAL1):c.982C>T (p.Arg328Trp)
|
rs35505918
|
|
NM_001302746.1(FASLG):c.-187_-186GA[4]
|
rs55853758
|
|
NM_001303052.2(MYT1L):c.1-10C>G
|
rs2149492098
|
|
NM_001303052.2(MYT1L):c.1573C>T (p.Arg525Cys)
|
rs2149071722
|
|
NM_001303052.2(MYT1L):c.1574G>T (p.Arg525Leu)
|
rs753426087
|
|
NM_001303052.2(MYT1L):c.1695G>T (p.Arg565Ser)
|
rs1573501865
|
|
NM_001303256.3(MORC2):c.2380+1G>A
|
rs113045177
|
|
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys)
|
rs1064795559
|
|
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp)
|
rs864309503
|
|
NM_001303256.3(MORC2):c.79G>A (p.Glu27Lys)
|
rs1602510200
|
|
NM_001306068.3(DUX4):c.953T>A (p.Val318Asp)
|
rs1415001972
|
|
NM_001308093.3(GATA4):c.1000+103G>T
|
rs113049875
|
|
NM_001312909.2(FAM111A):c.1706G>A (p.Arg569His)
|
rs587777011
|
|
NM_001317778.2(SFTPC):c.316T>C (p.Tyr106His)
|
rs1586421317
|
|
NM_001318852.2(MAPK8IP3):c.1665G>A (p.Met555Ile)
|
rs1596780602
|
|
NM_001320.7(CSNK2B):c.116T>G (p.Leu39Arg)
|
rs2151185431
|
|
NM_001320.7(CSNK2B):c.291G>A (p.Met97Ile)
|
rs2151187334
|
|
NM_001320.7(CSNK2B):c.494A>G (p.His165Arg)
|
rs1802026476
|
|
NM_001320.7(CSNK2B):c.560T>G (p.Leu187Arg)
|
rs1802055133
|
|
NM_001320.7(CSNK2B):c.94G>T (p.Asp32Tyr)
|
rs1554169984
|
|
NM_001321075.3(DLG4):c.1427T>G (p.Val476Gly)
|
rs1048520623
|
|
NM_001321120.2(TBX4):c.3G>A (p.Met1Ile)
|
rs868469301
|
|
NM_001322934.2(NFKB2):c.143_144+38dup
|
rs750661181
|
|
NM_001322934.2(NFKB2):c.2146G>T (p.Asp716Tyr)
|
rs1589870841
|
|
NM_001323289.2(CDKL5):c.1431_1435dup (p.Ser479fs)
|
rs1602286391
|
|
NM_001323289.2(CDKL5):c.145+1G>A
|
rs2147132274
|
|
NM_001323289.2(CDKL5):c.1548C>A (p.Tyr516Ter)
|
rs751789670
|
|
NM_001323289.2(CDKL5):c.1691A>G (p.His564Arg)
|
rs1602286720
|
|
NM_001323289.2(CDKL5):c.1742dup (p.His581fs)
|
rs1602286792
|
|
NM_001323289.2(CDKL5):c.1816C>T (p.Gln606Ter)
|
rs1602286899
|
|
NM_001323289.2(CDKL5):c.213C>G (p.Asn71Lys)
|
rs1602269367
|
|
NM_001323289.2(CDKL5):c.2480C>G (p.Ser827Ter)
|
rs1602298653
|
|
NM_001323289.2(CDKL5):c.2716C>T (p.Gln906Ter)
|
rs863225289
|
|
NM_001323289.2(CDKL5):c.280A>T (p.Lys94Ter)
|
rs2147139684
|
|
NM_001323289.2(CDKL5):c.349_352del (p.Tyr117fs)
|
rs2147142645
|
|
NM_001323289.2(CDKL5):c.353A>G (p.Gln118Arg)
|
rs863225290
|
|
NM_001323289.2(CDKL5):c.364G>A (p.Ala122Thr)
|
rs1602271692
|
|
NM_001323289.2(CDKL5):c.386del (p.Asn129fs)
|
rs1602271718
|
|
NM_001323289.2(CDKL5):c.425T>G (p.Leu142Ter)
|
rs267608477
|
|
NM_001323289.2(CDKL5):c.530A>G (p.Tyr177Cys)
|
rs2147145573
|
|
NM_001323289.2(CDKL5):c.602T>C (p.Leu201Pro)
|
rs587783087
|
|
NM_001323289.2(CDKL5):c.620G>T (p.Gly207Val)
|
rs2147148055
|
|
NM_001323289.2(CDKL5):c.65G>A (p.Gly22Glu)
|
rs1602232972
|
|
NM_001323289.2(CDKL5):c.787C>G (p.Leu263Val)
|
rs2147153564
|
|
NM_001323289.2(CDKL5):c.825+1dup
|
rs1602280455
|
|
NM_001323289.2(CDKL5):c.906del (p.Leu303fs)
|
rs2147156191
|
|
NM_001323289.2(CDKL5):c.978-1G>A
|
rs2147160087
|
|
NM_001326342.2(CELF2):c.1353del (p.Asp451fs)
|
rs2132555667
|
|
NM_001330260.2(SCN8A):c.1094G>A (p.Arg365His)
|
rs1592390511
|
|
NM_001330260.2(SCN8A):c.1150G>A (p.Gly384Arg)
|
rs2138748007
|
|
NM_001330260.2(SCN8A):c.1226T>C (p.Val409Ala)
|
rs2138748239
|
|
NM_001330260.2(SCN8A):c.1228G>T (p.Val410Leu)
|
rs879255699
|
|
NM_001330260.2(SCN8A):c.1979G>A (p.Gly660Asp)
|
rs2138783318
|
|
NM_001330260.2(SCN8A):c.2300C>T (p.Thr767Ile)
|
rs797045013
|
|
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
|
|
|
NM_001330260.2(SCN8A):c.2620G>A (p.Ala874Thr)
|
rs1057524820
|
|
NM_001330260.2(SCN8A):c.2641G>C (p.Val881Leu)
|
rs1592149771
|
|
NM_001330260.2(SCN8A):c.2675T>G (p.Val892Gly)
|
rs863225295
|
|
NM_001330260.2(SCN8A):c.2693del (p.Gly898fs)
|
rs2138862836
|
|
NM_001330260.2(SCN8A):c.4426G>A (p.Gly1476Ser)
|
rs1064793263
|
|
NM_001330260.2(SCN8A):c.4492A>G (p.Lys1498Glu)
|
rs1555228931
|
|
NM_001330260.2(SCN8A):c.4594A>T (p.Ile1532Phe)
|
rs1555229496
|
|
NM_001330260.2(SCN8A):c.4876C>T (p.Arg1626Cys)
|
rs2138942373
|
|
NM_001330260.2(SCN8A):c.4883T>C (p.Leu1628Ser)
|
rs1555230928
|
|
NM_001330260.2(SCN8A):c.4937T>C (p.Met1646Thr)
|
rs2138942542
|
|
NM_001330260.2(SCN8A):c.5279T>C (p.Met1760Thr)
|
rs1555231012
|
|
NM_001330260.2(SCN8A):c.5614C>T (p.Arg1872Trp)
|
rs796053228
|
|
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser)
|
rs587780455
|
|
NM_001330288.2(SMARCC2):c.914C>A (p.Pro305His)
|
rs757238844
|
|
NM_001330311.2(DVL1):c.1637del (p.Pro546fs)
|
rs797044839
|
|
NM_001330360.2(POLA1):c.3667C>T (p.His1223Tyr)
|
rs896980879
|
|
NM_001330994.2(GRIK1):c.2846C>A (p.Ala949Glu)
|
rs758995730
|
|
NM_001346810.2(DLGAP2):c.779A>C (p.Asp260Ala)
|
rs2130517378
|
|
NM_001347721.2(DYRK1A):c.1015G>A (p.Gly339Arg)
|
rs2053152079
|
|
NM_001347721.2(DYRK1A):c.638-1G>A
|
rs2148612254
|
|
NM_001347721.2(DYRK1A):c.955C>A (p.Arg319=)
|
rs113004433
|
|
NM_001348323.3(TRIP12):c.3166C>T (p.Gln1056Ter)
|
rs1575203936
|
|
NM_001348323.3(TRIP12):c.4986T>A (p.Asp1662Glu)
|
rs1468657712
|
|
NM_001348323.3(TRIP12):c.6034A>G (p.Thr2012Ala)
|
rs1574632490
|
|
NM_001348716.2(KDM6B):c.2477C>A (p.Ser826Tyr)
|
rs142934776
|
|
NM_001348716.2(KDM6B):c.3436A>G (p.Ser1146Gly)
|
rs2151378333
|
|
NM_001348768.2(HECW2):c.4343T>G (p.Leu1448Trp)
|
rs1575240464
|
|
NM_001348800.3(ZBTB20):c.1734T>A (p.Tyr578Ter)
|
rs1576280941
|
|
NM_001348800.3(ZBTB20):c.1817A>G (p.His606Arg)
|
rs1576220938
|
|
NM_001349253.2(SCN11A):c.712+1G>A
|
rs768647693
|
|
NM_001349338.3(FOXP1):c.1240_1241del (p.Leu414fs)
|
rs1064793130
|
|
NM_001349338.3(FOXP1):c.1287_1291dup (p.Thr431fs)
|
rs1575806352
|
|
NM_001349338.3(FOXP1):c.1550T>G (p.Leu517Arg)
|
rs1575757812
|
|
NM_001349338.3(FOXP1):c.1568T>C (p.Phe523Ser)
|
rs1559602593
|
|
NM_001349338.3(FOXP1):c.1798A>G (p.Ser600Gly)
|
rs970358469
|
|
NM_001349338.3(FOXP1):c.2018del (p.Asn673fs)
|
rs2106854788
|
|
NM_001349338.3(FOXP1):c.490G>A (p.Ala164Thr)
|
rs1252621833
|
|
NM_001349338.3(FOXP1):c.870-1G>C
|
rs1576175491
|
|
NM_001349338.3(FOXP1):c.975-2A>G
|
rs1553685707
|
|
NM_001349999.2(RBFOX2):c.1096G>A (p.Gly366Ser)
|
rs917869422
|
|
NM_001350162.2(TEX15):c.2574_2577del (p.Thr859fs)
|
rs565708396
|
|
NM_001351132.2(PEX5):c.1561-44_1561-43insTCTGAGTCGGTGGAGTAATGTGCAGAGTTTGA
|
rs141721291
|
|
NM_001351132.2(PEX5):c.551+113_551+114dup
|
rs5796268
|
|
NM_001351169.2(NT5C2):c.1403T>C (p.Leu468Pro)
|
rs2134504868
|
|
NM_001351169.2(NT5C2):c.1624del (p.Gln542fs)
|
rs1385107002
|
|
NM_001352514.2(HLCS):c.2144G>A (p.Trp715Ter)
|
rs1174060268
|
|
NM_001352514.2(HLCS):c.2279T>C (p.Ile760Thr)
|
rs2145731903
|
|
NM_001353921.2(ARHGEF9):c.178G>T (p.Glu60Ter)
|
rs1602577529
|
|
NM_001354604.2(MITF):c.579del (p.Glu194fs)
|
rs1576005420
|
|
NM_001354712.2(THRB):c.1192A>C (p.Ser398Arg)
|
rs1318079339
|
|
NM_001356.5(DDX3X):c.1264_1267del (p.Val422fs)
|
rs2147356723
|
|
NM_001356.5(DDX3X):c.136C>T (p.Arg46Ter)
|
rs1569234653
|
|
NM_001356.5(DDX3X):c.173C>G (p.Ser58Ter)
|
rs1602126980
|
|
NM_001356.5(DDX3X):c.269dup (p.Ser90fs)
|
rs1602127262
|
|
NM_001356.5(DDX3X):c.744C>T (p.Gly248=)
|
rs1569238002
|
|
NM_001356.5(DDX3X):c.99_102dup (p.Lys35fs)
|
rs1602119305
|
|
NM_001358263.1(HK1):c.-270G>C
|
rs397514654
|
|
NM_001358263.1(HK1):c.1A>G (p.Met1Val)
|
rs1589439508
|
|
NM_001358263.1(HK1):c.1A>T (p.Met1Leu)
|
rs1589439508
|
|
NM_001360.3(DHCR7):c.197G>A (p.Cys66Tyr)
|
rs2120355008
|
|
NM_001360016.2(G6PD):c.1143C>G (p.Phe381Leu)
|
rs2148328905
|
|
NM_001360016.2(G6PD):c.1192G>A (p.Glu398Lys)
|
rs137852325
|
|
NM_001360016.2(G6PD):c.1378G>T (p.Glu460Ter)
|
rs1603411214
|
|
NM_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp)
|
rs117500243
|
|
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs)
|
rs530719719
|
|
NM_001364905.1(LRBA):c.1291T>C (p.Cys431Arg)
|
rs778235929
|
|
NM_001364905.1(LRBA):c.6709del (p.Trp2237fs)
|
rs1581401865
|
|
NM_001365276.2(TNXB):c.12224G>A (p.Arg4075His)
|
rs201510617
|
|
NM_001365536.1(SCN9A):c.1975-3dup
|
rs35888674
|
|
NM_001365536.1(SCN9A):c.3204del (p.Lys1068fs)
|
rs1574843584
|
|
NM_001365536.1(SCN9A):c.3452dup (p.Glu1152fs)
|
rs2106426285
|
|
NM_001365536.1(SCN9A):c.4424_4427del (p.Thr1475fs)
|
rs1574706911
|
|
NM_001365902.3(NFIX):c.154G>T (p.Glu52Ter)
|
rs1555696499
|
|
NM_001365902.3(NFIX):c.163del (p.Ala55fs)
|
rs2145191618
|
|
NM_001365902.3(NFIX):c.28-891dup
|
rs113861190
|
|
NM_001365902.3(NFIX):c.327_340del (p.Gln110fs)
|
rs1599738349
|
|
NM_001365902.3(NFIX):c.568C>T (p.Gln190Ter)
|
rs387907253
|
|
NM_001365902.3(NFIX):c.799_812del (p.Thr267fs)
|
rs1599844887
|
|
NM_001365951.3(KIF1B):c.1130C>T (p.Thr377Ile)
|
rs1372224953
|
|
NM_001365951.3(KIF1B):c.246del (p.Leu83fs)
|
rs2102186706
|
|
NM_001365951.3(KIF1B):c.3430C>T (p.His1144Tyr)
|
rs1230762716
|
|
NM_001365951.3(KIF1B):c.363+9C>A
|
rs1569599409
|
|
NM_001366110.1(PAX4):c.1022G>A (p.Trp341Ter)
|
rs2233584
|
|
NM_001367534.1(CAMK2G):c.1735T>A (p.Cys579Ser)
|
rs2133013133
|
|
NM_001367534.1(CAMK2G):c.449G>A (p.Gly150Asp)
|
rs2134881710
|
|
NM_001367561.1(DOCK7):c.1333C>T (p.Arg445Ter)
|
rs758111714
|
|
NM_001367561.1(DOCK7):c.280C>T (p.Arg94Trp)
|
rs1657688175
|
|
NM_001367561.1(DOCK7):c.5463dup (p.Gln1822fs)
|
rs1571266478
|
|
NM_001367721.1(CASK):c.1258C>T (p.Pro420Ser)
|
rs2065666644
|
|
NM_001367721.1(CASK):c.1385_1394del (p.Pro462fs)
|
rs1602292205
|
|
NM_001367721.1(CASK):c.1465C>T (p.Arg489Trp)
|
rs1114167352
|
|
NM_001367721.1(CASK):c.1504-6T>A
|
rs767346232
|
|
NM_001367721.1(CASK):c.1609C>T (p.Arg537Ter)
|
rs1555981717
|
|
NM_001367721.1(CASK):c.1976G>A (p.Gly659Asp)
|
rs727505397
|
|
NM_001367721.1(CASK):c.2429G>A (p.Ser810Asn)
|
rs1602220170
|
|
NM_001367721.1(CASK):c.2569A>G (p.Ile857Val)
|
rs2147067640
|
|
NM_001367721.1(CASK):c.764G>A (p.Arg255His)
|
rs587783369
|
|
NM_001367721.1(CASK):c.774_780del (p.Met258fs)
|
rs1602424869
|
|
NM_001367721.1(CASK):c.787G>A (p.Glu263Lys)
|
rs1602424843
|
|
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter)
|
rs587783370
|
|
NM_001368067.1(LDB3):c.494C>T (p.Ala165Val)
|
rs121908334
|
|
NM_001368894.2(PAX6):c.*21del (p.Ter437=)
|
rs759391101
|
|
NM_001368894.2(PAX6):c.1074+3A>G
|
rs1592409561
|
|
NM_001368894.2(PAX6):c.1303_1309del (p.Leu435fs)
|
rs757946805
|
|
NM_001368894.2(PAX6):c.1309del (p.Ter437LysextTer?)
|
rs1160348364
|
|
NM_001369.3(DNAH5):c.1896G>T (p.Gln632His)
|
rs746476934
|
|
NM_001369.3(DNAH5):c.4053+1G>A
|
rs1060501466
|
|
NM_001369268.1(ACAN):c.2541del (p.Val848fs)
|
rs1596144242
|
|
NM_001369268.1(ACAN):c.4474del (p.Ser1492fs)
|
rs2141606910
|
|
NM_001369268.1(ACAN):c.7255G>A (p.Asp2419Asn)
|
rs121913568
|
|
NM_001369268.1(ACAN):c.7279C>T (p.Arg2427Cys)
|
rs1326557887
|
|
NM_001370100.5(ZMYND11):c.986C>T (p.Thr329Ile)
|
rs2131924430
|
|
NM_001370259.2(MEN1):c.-23-1G>A
|
rs2136197853
|
|
NM_001370259.2(MEN1):c.-7_-1dup (p.Met1fs)
|
rs758960344
|
|
NM_001370259.2(MEN1):c.1117C>T (p.Pro373Ser)
|
rs794728627
|
|
NM_001370259.2(MEN1):c.1406A>C (p.Glu469Ala)
|
rs1565638407
|
|
NM_001370259.2(MEN1):c.1543C>T (p.Pro515Ser)
|
rs779466487
|
|
NM_001370259.2(MEN1):c.1637C>T (p.Pro546Leu)
|
rs779413959
|
|
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn)
|
rs863224527
|
|
NM_001370259.2(MEN1):c.203C>T (p.Ala68Val)
|
rs1319371332
|
|
NM_001370259.2(MEN1):c.236C>G (p.Pro79Arg)
|
rs1555166557
|
|
NM_001370259.2(MEN1):c.312_315dup (p.Tyr106fs)
|
rs1592658517
|
|
NM_001370259.2(MEN1):c.343C>G (p.Arg115Gly)
|
rs1565651402
|
|
NM_001370259.2(MEN1):c.409C>T (p.Arg137Trp)
|
rs1208267598
|
|
NM_001370259.2(MEN1):c.654+1G>T
|
rs794728622
|
|
NM_001370259.2(MEN1):c.655-6C>A
|
rs77461664
|
|
NM_001370259.2(MEN1):c.655-6C>G
|
rs77461664
|
|
NM_001370259.2(MEN1):c.784-9G>A
|
rs794728625
|
|
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg)
|
rs2066845
|
|
NM_001370658.1(BTD):c.1465C>T (p.Pro489Ser)
|
rs1344607767
|
|
NM_001370658.1(BTD):c.203del (p.Gln68fs)
|
rs1575013953
|
|
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly)
|
rs397514354
|
|
NM_001370658.1(BTD):c.44_45del (p.Cys15fs)
|
rs750965140
|
|
NM_001370658.1(BTD):c.496T>G (p.Cys166Gly)
|
rs955385869
|
|
NM_001370658.1(BTD):c.705C>G (p.Ile235Met)
|
rs1575029719
|
|
NM_001370658.1(BTD):c.798del (p.Ala267fs)
|
rs1575029897
|
|
NM_001371279.1(REEP1):c.298G>A (p.Glu100Lys)
|
rs2104243924
|
|
NM_001371279.1(REEP1):c.374del (p.Gly125fs)
|
rs2104224215
|
|
NM_001371596.2(MFSD8):c.1066C>A (p.Pro356Thr)
|
rs756204684
|
|
NM_001371596.2(MFSD8):c.1124del (p.Pro375fs)
|
rs1578794927
|
|
NM_001371596.2(MFSD8):c.1213C>T (p.Gln405Ter)
|
rs778875017
|
|
NM_001371596.2(MFSD8):c.1420C>T (p.Gln474Ter)
|
rs370663969
|
|
NM_001371596.2(MFSD8):c.199-2A>G
|
rs1578912759
|
|
NM_001371596.2(MFSD8):c.362_363del (p.Tyr121fs)
|
rs2148922004
|
|
NM_001371596.2(MFSD8):c.415C>T (p.Arg139Cys)
|
rs993001712
|
|
NM_001371596.2(MFSD8):c.63-1G>A
|
rs1314967038
|
|
NM_001371623.1(TCOF1):c.3047-1G>A
|
rs2151009927
|
|
NM_001371623.1(TCOF1):c.4064del (p.Pro1355fs)
|
rs1581224630
|
|
NM_001371623.1(TCOF1):c.4087AAG[4] (p.Lys1367del)
|
rs773205979
|
|
NM_001371623.1(TCOF1):c.630_631insCTG (p.Thr210_Asp211insLeu)
|
rs1581075276
|
|
NM_001371623.1(TCOF1):c.633_634del (p.Val212fs)
|
rs1581075356
|
|
NM_001371727.1(GABRB2):c.1168A>C (p.Asn390His)
|
rs1026621473
|
|
NM_001371727.1(GABRB2):c.245C>A (p.Thr82Asn)
|
rs1561658011
|
|
NM_001371727.1(GABRB2):c.877C>T (p.Arg293Trp)
|
rs1554093891
|
|
NM_001371904.1(APOA5):c.1028G>A (p.Arg343His)
|
rs1591312418
|
|
NM_001371904.1(APOA5):c.212T>C (p.Leu71Pro)
|
rs2134203761
|
|
NM_001371904.1(APOA5):c.607G>T (p.Gly203Trp)
|
rs778493133
|
|
NM_001371904.1(APOA5):c.990_993del (p.Asp332fs)
|
rs774150500
|
|
NM_001371928.1(AHDC1):c.1122dup (p.Gly375fs)
|
rs749294057
|
|
NM_001371928.1(AHDC1):c.2191_2194del (p.Val731fs)
|
rs1571236369
|
|
NM_001371928.1(AHDC1):c.2719del (p.Ala907fs)
|
rs2148275240
|
|
NM_001371928.1(AHDC1):c.3254CCT[6] (p.Ser1091del)
|
rs530256606
|
|
NM_001371928.1(AHDC1):c.4679A>T (p.Gln1560Leu)
|
rs1571224398
|
|
NM_001371986.1(UNC80):c.1936C>T (p.His646Tyr)
|
rs1467598370
|
|
NM_001371986.1(UNC80):c.3853C>T (p.Arg1285Ter)
|
rs1574855486
|
|
NM_001371986.1(UNC80):c.5618G>A (p.Arg1873His)
|
rs1051195562
|
|
NM_001371986.1(UNC80):c.6726G>A (p.Met2242Ile)
|
rs949032362
|
|
NM_001372044.2(SHANK3):c.3151C>T (p.Pro1051Ser)
|
rs2146830003
|
|
NM_001372044.2(SHANK3):c.494+2T>G
|
rs1603445997
|
|
NM_001372051.1(CASP8):c.803-2881_803-2880insATCTATCAATGTTATGCCCACTGTGCTCTCCAGCTGTGGTCTG
|
rs1559369386
|
|
NM_001372066.1(TFAP2A):c.493G>C (p.Glu165Gln)
|
rs1581265556
|
|
NM_001372078.1(REV3L):c.35A>G (p.Tyr12Cys)
|
rs1174220169
|
|
NM_001374353.1(GLI2):c.3625C>T (p.Arg1209Ter)
|
rs1683184865
|
|
NM_001374385.1(ATP8B1):c.173del (p.Phe58fs)
|
rs1599166106
|
|
NM_001374385.1(ATP8B1):c.3015+1G>T
|
rs1599069873
|
|
NM_001374385.1(ATP8B1):c.3394T>G (p.Phe1132Val)
|
rs1599066459
|
|
NM_001374385.1(ATP8B1):c.3702dup (p.Asp1235Ter)
|
rs2122524814
|
|
NM_001374828.1(ARID1B):c.1451dup (p.Phe485fs)
|
rs1554248082
|
|
NM_001374828.1(ARID1B):c.2248-2A>G
|
rs2128462015
|
|
NM_001374828.1(ARID1B):c.2440G>T (p.Val814Leu)
|
rs765365713
|
|
NM_001374828.1(ARID1B):c.4263del (p.Gly1422fs)
|
rs1583491381
|
|
NM_001374828.1(ARID1B):c.4299C>A (p.Tyr1433Ter)
|
rs1583491515
|
|
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=)
|
rs797045277
|
|
NM_001374828.1(ARID1B):c.5263+1G>T
|
rs2128377544
|
|
NM_001374828.1(ARID1B):c.5365del (p.Ser1789fs)
|
rs2128385522
|
|
NM_001374828.1(ARID1B):c.5652C>G (p.Ser1884Arg)
|
rs1195428885
|
|
NM_001374828.1(ARID1B):c.591GCA[9] (p.Gln213_Gln214dup)
|
rs587779743
|
|
NM_001374828.1(ARID1B):c.6793G>A (p.Asp2265Asn)
|
rs2128398514
|
|
NM_001374828.1(ARID1B):c.6896del (p.Gln2299fs)
|
rs1583518354
|
|
NM_001375380.1(EBF3):c.1128+1G>C
|
rs797046136
|
|
NM_001375380.1(EBF3):c.1373-11del
|
rs68001511
|
|
NM_001375380.1(EBF3):c.188G>A (p.Arg63Gln)
|
rs2134659487
|
|
NM_001375380.1(EBF3):c.422A>G (p.Tyr141Cys)
|
rs1057519519
|
|
NM_001375380.1(EBF3):c.574_576del (p.Leu192del)
|
rs2134129924
|
|
NM_001375405.1(CEP120):c.1558C>T (p.Gln520Ter)
|
rs2127059805
|
|
NM_001375524.1(TRRAP):c.3199C>T (p.Gln1067Ter)
|
rs2116509105
|
|
NM_001375765.1(GIGYF1):c.2498dup (p.Gly834fs)
|
rs776212530
|
|
NM_001375765.1(GIGYF1):c.407G>A (p.Arg136Lys)
|
rs886069639
|
|
NM_001376.5(DYNC1H1):c.10745G>T (p.Arg3582Leu)
|
rs866994746
|
|
NM_001376.5(DYNC1H1):c.11824C>T (p.Pro3942Ser)
|
rs1006593304
|
|
NM_001376.5(DYNC1H1):c.295A>G (p.Ile99Val)
|
rs1595595758
|
|
NM_001376.5(DYNC1H1):c.3157-2A>T
|
rs2141280750
|
|
NM_001376.5(DYNC1H1):c.3395G>A (p.Gly1132Glu)
|
rs2141280974
|
|
NM_001376.5(DYNC1H1):c.3603G>T (p.Arg1201Ser)
|
rs727505393
|
|
NM_001376.5(DYNC1H1):c.3961-2A>G
|
rs1595608413
|
|
NM_001376.5(DYNC1H1):c.752G>A (p.Arg251His)
|
rs794727634
|
|
NM_001376.5(DYNC1H1):c.7705G>A (p.Val2569Met)
|
rs368463825
|
|
NM_001376.5(DYNC1H1):c.791G>C (p.Arg264Pro)
|
rs713993043
|
|
NM_001376.5(DYNC1H1):c.7979T>G (p.Val2660Gly)
|
rs201272954
|
|
NM_001376.5(DYNC1H1):c.8390G>A (p.Arg2797His)
|
rs2152584603
|
|
NM_001376.5(DYNC1H1):c.944G>A (p.Ser315Asn)
|
rs1595597963
|
|
NM_001376.5(DYNC1H1):c.9790C>A (p.Leu3264Met)
|
rs373682811
|
|
NM_001377.3(DYNC2H1):c.12457-1G>C
|
rs2135805319
|
|
NM_001377.3(DYNC2H1):c.5559-1G>C
|
rs2134979684
|
|
NM_001377.3(DYNC2H1):c.8015A>G (p.His2672Arg)
|
rs2135079690
|
|
NM_001377.3(DYNC2H1):c.8885AAG[1] (p.Glu2963del)
|
rs770387587
|
|
NM_001377265.1(MAPT):c.1834A>C (p.Thr612Pro)
|
rs1598326279
|
|
NM_001377265.1(MAPT):c.1972C>G (p.Leu658Val)
|
rs63750349
|
|
NM_001377265.1(MAPT):c.2064T>C (p.Asn688=)
|
rs63750912
|
|
NM_001377265.1(MAPT):c.2091T>C (p.Ser697=)
|
rs63750568
|
|
NM_001378120.1(MBD5):c.1058C>G (p.Ser353Cys)
|
rs1448983984
|
|
NM_001378120.1(MBD5):c.114-3C>T
|
rs2105571139
|
|
NM_001378120.1(MBD5):c.1472G>C (p.Arg491Thr)
|
rs1024254683
|
|
NM_001378120.1(MBD5):c.2127T>A (p.Ser709Arg)
|
rs763873615
|
|
NM_001378120.1(MBD5):c.2548A>G (p.Ile850Val)
|
rs1574476665
|
|
NM_001378120.1(MBD5):c.2605G>A (p.Val869Ile)
|
rs116207524
|
|
NM_001378120.1(MBD5):c.4540G>C (p.Glu1514Gln)
|
rs1296916399
|
|
NM_001378120.1(MBD5):c.644G>A (p.Arg215His)
|
rs771325235
|
|
NM_001378183.1(PIEZO2):c.1924G>T (p.Glu642Ter)
|
rs1598482405
|
|
NM_001378183.1(PIEZO2):c.2372T>A (p.Ile791Lys)
|
rs2144117079
|
|
NM_001378183.1(PIEZO2):c.2724_2734del (p.Ser908fs)
|
rs2144002337
|
|
NM_001378183.1(PIEZO2):c.3487C>T (p.Arg1163Ter)
|
rs1203151992
|
|
NM_001378183.1(PIEZO2):c.5079dup (p.Asp1694fs)
|
rs2143913299
|
|
NM_001378414.1(HDAC4):c.2863G>C (p.Ala955Pro)
|
rs753247137
|
|
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_001378418.1(TCF20):c.3300G>T (p.Trp1100Cys)
|
rs2147206303
|
|
NM_001378418.1(TCF20):c.4988dup (p.Arg1664fs)
|
rs2147197034
|
|
NM_001378452.1(ITPR1):c.4407+44GT[18]
|
rs35795762
|
|
NM_001378452.1(ITPR1):c.6206A>G (p.Asn2069Ser)
|
rs1360324926
|
|
NM_001378452.1(ITPR1):c.800C>G (p.Thr267Arg)
|
rs797044955
|
|
NM_001378454.1(ALMS1):c.11668+1G>T
|
rs1181992959
|
|
NM_001378454.1(ALMS1):c.1433-64dup
|
rs66492706
|
|
NM_001378454.1(ALMS1):c.1571CTC[1] (p.Pro525del)
|
rs34628045
|
|
NM_001378454.1(ALMS1):c.1727C>G (p.Ser576Ter)
|
rs756389027
|
|
NM_001378454.1(ALMS1):c.7450A>T (p.Lys2484Ter)
|
rs2103794046
|
|
NM_001378454.1(ALMS1):c.9191T>G (p.Leu3064Ter)
|
rs1434010689
|
|
NM_001378454.1(ALMS1):c.9251del (p.Asn3084fs)
|
rs1572970628
|
|
NM_001378615.1(CC2D2A):c.676GAA[3] (p.Glu229del)
|
rs386833764
|
|
NM_001378964.1(CDON):c.3395C>T (p.Pro1132Leu)
|
rs754025360
|
|
NM_001378969.1(KCND3):c.1381G>A (p.Glu461Lys)
|
rs2101469480
|
|
NM_001379029.1(CERT1):c.-199CCT[1]
|
rs1279678355
|
|
NM_001379029.1(CERT1):c.349-3dup
|
rs540751366
|
|
NM_001379110.1(SLC9A6):c.1080+80dup
|
rs35492327
|
|
NM_001379110.1(SLC9A6):c.691CTT[1] (p.Leu232del)
|
rs1603201557
|
|
NM_001379200.1(TBX1):c.1158_1159del (p.Gly387fs)
|
rs2145838391
|
|
NM_001379270.1(CNGA1):c.546-1G>C
|
rs1037963003
|
|
NM_001379291.1(BRD4):c.231_233del (p.His77del)
|
rs1599473950
|
|
NM_001379291.1(BRD4):c.4020+1G>A
|
rs2145497734
|
|
NM_001379403.1(WDR26):c.1694G>T (p.Gly565Val)
|
rs1572168244
|
|
NM_001379403.1(WDR26):c.1974_1975del (p.Arg658fs)
|
rs1572163072
|
|
NM_001379403.1(WDR26):c.365del (p.Gly122fs)
|
rs2102930721
|
|
NM_001379403.1(WDR26):c.492dup (p.Ser165fs)
|
rs2102930403
|
|
NM_001379403.1(WDR26):c.773_776del (p.Pro258fs)
|
rs2102926443
|
|
NM_001379451.1(BCORL1):c.2319_2340del (p.Gly774fs)
|
rs2124449842
|
|
NM_001379500.1(COL18A1):c.2157+79dup
|
rs148502711
|
|
NM_001379500.1(COL18A1):c.2829CCCAGGCCC[1] (p.938PGP[3])
|
rs78227997
|
|
NM_001379500.1(COL18A1):c.2829_2846del (p.938PGP[2])
|
rs78227997
|
|
NM_001382.4(DPAGT1):c.1036C>G (p.His346Asp)
|
rs1592225374
|
|
NM_001382.4(DPAGT1):c.574G>C (p.Gly192Arg)
|
rs768464558
|
|
NM_001382.4(DPAGT1):c.643+1G>A
|
rs2134910617
|
|
NM_001382347.1(MYO5A):c.1543-84del
|
rs71425744
|
|
NM_001382430.1(AKT1):c.1364-3C>T
|
rs113777945
|
|
NM_001382430.1(AKT1):c.176-5C>A
|
rs377076374
|
|
NM_001382430.1(AKT1):c.356A>G (p.Asp119Gly)
|
rs1566818099
|
|
NM_001382430.1(AKT1):c.968A>G (p.Asp323Gly)
|
rs2140903030
|
|
NM_001382567.1(STIM1):c.692A>G (p.Tyr231Cys)
|
rs765230033
|
|
NM_001384140.1(PCDH15):c.1441-1G>T
|
rs2133801703
|
|
NM_001384140.1(PCDH15):c.1863T>G (p.Tyr621Ter)
|
rs1590691343
|
|
NM_001384140.1(PCDH15):c.2645_2646del (p.Asp881_Tyr882insTer)
|
rs1589950125
|
|
NM_001384732.1(CPLANE1):c.1394del (p.Leu465fs)
|
rs1280425167
|
|
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs)
|
rs777686211
|
|
NM_001384732.1(CPLANE1):c.2898del (p.Pro968fs)
|
rs1305821156
|
|
NM_001384732.1(CPLANE1):c.3290-2A>G
|
rs606231260
|
|
NM_001384732.1(CPLANE1):c.586T>C (p.Cys196Arg)
|
rs2150766539
|
|
NM_001384910.1(GUCA1A):c.359G>T (p.Arg120Leu)
|
rs1582323732
|
|
NM_001384910.1(GUCA1A):c.465G>C (p.Glu155Asp)
|
rs2113838890
|
|
NM_001385012.1(NBEA):c.5648+1G>A
|
rs2073745817
|
|
NM_001386298.1(CIC):c.4594G>T (p.Gly1532Ter)
|
rs747706524
|
|
NM_001386298.1(CIC):c.7506dup (p.Pro2503fs)
|
rs1422380205
|
|
NM_001386298.1(CIC):c.7510del (p.Ser2504fs)
|
rs1954236050
|
|
NM_001386393.1(PANK2):c.1151T>C (p.Leu384Ser)
|
rs111863748
|
|
NM_001386393.1(PANK2):c.1207-3C>G
|
rs370766524
|
|
NM_001386393.1(PANK2):c.175_182del (p.Ser59fs)
|
rs755653150
|
|
NM_001386393.1(PANK2):c.240_241del (p.Tyr80_Ser81delinsTer)
|
rs1600477446
|
|
NM_001386393.1(PANK2):c.740G>C (p.Arg247Pro)
|
rs754521581
|
|
NM_001388308.1(KIF12):c.1024G>A (p.Val342Met)
|
rs564811653
|
|
NM_001388419.1(KALRN):c.1624G>A (p.Val542Ile)
|
rs1056310843
|
|
NM_001394062.1(MACF1):c.12265C>T (p.Gln4089Ter)
|
rs2148518682
|
|
NM_001394062.1(MACF1):c.20222A>T (p.Asp6741Val)
|
rs2148674816
|
|
NM_001394062.1(MACF1):c.22295C>T (p.Ser7432Leu)
|
rs2124264676
|
|
NM_001394372.1(BICRA):c.1381C>A (p.Pro461Thr)
|
rs2123587132
|
|
NM_001394372.1(BICRA):c.3248+1G>A
|
rs1490477251
|
|
NM_001394372.1(BICRA):c.4367C>T (p.Ala1456Val)
|
rs963884506
|
|
NM_001394531.1(WDFY4):c.3098+4T>G
|
rs2066052443
|
|
NM_001394531.1(WDFY4):c.835C>T (p.Leu279Phe)
|
rs2132315078
|
|
NM_001395058.1(MYO15B):c.8156+19C>G
|
|
|
NM_001395413.1(POR):c.1405G>C (p.Val469Leu)
|
rs72557946
|
|
NM_001399.5(EDA):c.1142G>A (p.Gly381Glu)
|
rs1602625000
|
|
NM_001399.5(EDA):c.961G>A (p.Glu321Lys)
|
rs397516682
|
|
NM_001429.4(EP300):c.3143-1G>T
|
rs1230152737
|
|
NM_001429.4(EP300):c.3573T>A (p.Tyr1191Ter)
|
rs565779970
|
|
NM_001429.4(EP300):c.3624C>G (p.Ile1208Met)
|
rs143660871
|
|
NM_001429.4(EP300):c.3707dup (p.Asn1236fs)
|
rs1601628237
|
|
NM_001429.4(EP300):c.3749G>A (p.Cys1250Tyr)
|
rs1601629319
|
|
NM_001429.4(EP300):c.3875-2A>C
|
rs2145762711
|
|
NM_001429.4(EP300):c.4692dup (p.Arg1565Ter)
|
rs1601636935
|
|
NM_001429.4(EP300):c.4783T>A (p.Phe1595Ile)
|
rs1057517732
|
|
NM_001429.4(EP300):c.5633C>A (p.Thr1878Asn)
|
rs1484157418
|
|
NM_001429.4(EP300):c.5832C>G (p.His1944Gln)
|
rs142885571
|
|
NM_001429.4(EP300):c.6798_6800del (p.Gln2268del)
|
rs533875300
|
|
NM_001429.4(EP300):c.6954_6965del (p.Gln2319_Pro2322del)
|
rs2145523070
|
|
NM_001429.4(EP300):c.7014_7028del (p.His2338_Pro2342del)
|
rs1601642386
|
|
NM_001453.3(FOXC1):c.-429C>G
|
rs77888940
|
|
NM_001453.3(FOXC1):c.398_401del (p.Asn133fs)
|
rs2113111662
|
|
NM_001457.4(FLNB):c.3263C>A (p.Ser1088Tyr)
|
rs2107175027
|
|
NM_001457.4(FLNB):c.4625T>C (p.Ile1542Thr)
|
rs1356745912
|
|
NM_001457.4(FLNB):c.4807C>T (p.Pro1603Ser)
|
rs2107224894
|
|
NM_001458.5(FLNC):c.113A>T (p.Gln38Leu)
|
rs1585147708
|
|
NM_001458.5(FLNC):c.3557C>T (p.Ala1186Val)
|
rs1114167361
|
|
NM_001458.5(FLNC):c.6301T>C (p.Cys2101Arg)
|
rs1808915510
|
|
NM_001458.5(FLNC):c.710C>T (p.Pro237Leu)
|
rs1585152751
|
|
NM_001466.4(FZD2):c.1644G>A (p.Trp548Ter)
|
rs1568105666
|
|
NM_001470.4(GABBR1):c.208dup (p.Glu70fs)
|
rs1231267820
|
|
NM_001470.4(GABBR1):c.2830G>A (p.Glu944Lys)
|
rs1243106351
|
|
NM_001478.5(B4GALNT1):c.*1325G>A
|
rs151077423
|
|
NM_001493.3(GDI1):c.491A>C (p.Gln164Pro)
|
rs1032352955
|
|
NM_001497.4(B4GALT1):c.5G>C (p.Arg2Thr)
|
rs1587756000
|
|
NM_001540.5(HSPB1):c.438dup (p.Gly147fs)
|
rs747325717
|
|
NM_001556.3(IKBKB):c.2023A>G (p.Ser675Gly)
|
rs1386860765
|
|
NM_001558.4(IL10RA):c.787C>T (p.Arg263Ter)
|
rs1192830343
|
|
NM_001567.4(INPPL1):c.94_121del (p.Glu32fs)
|
rs797044470
|
|
NM_001605.3(AARS1):c.2192C>G (p.Ser731Trp)
|
rs150873930
|
|
NM_001605.3(AARS1):c.977G>C (p.Arg326Pro)
|
rs2152160758
|
|
NM_001609.4(ACADSB):c.1128+20_1128+26dup
|
rs10571424
|
|
NM_001611.5(ACP5):c.625_626del (p.Trp209fs)
|
rs1599634435
|
|
NM_001613.4(ACTA2):c.937G>A (p.Asp313Asn)
|
rs201981018
|
|
NM_001614.5(ACTG1):c.434C>T (p.Ser145Phe)
|
rs2143779274
|
|
NM_001614.5(ACTG1):c.542C>T (p.Ala181Val)
|
rs797044730
|
|
NM_001614.5(ACTG1):c.608C>T (p.Thr203Met)
|
rs281875327
|
|
NM_001626.6(AKT2):c.984C>G (p.Gly328=)
|
rs970521940
|
|
NM_001655.5(ARCN1):c.934C>T (p.Arg312Ter)
|
rs1565363889
|
|
NM_001658.4(ARF1):c.509T>A (p.Leu170Gln)
|
rs2124858573
|
|
NM_001673.5(ASNS):c.883G>A (p.Asp295Asn)
|
rs781581679
|
|
NM_001693.4(ATP6V1B2):c.1465A>T (p.Lys489Ter)
|
rs1585256207
|
|
NM_001709.5(BDNF):c.5C>T (p.Thr2Ile)
|
rs8192466
|
|
NM_001715.3(BLK):c.1471del (p.Glu491fs)
|
rs1436601574
|
|
NM_001715.3(BLK):c.391C>T (p.Arg131Trp)
|
rs73663163
|
|
NM_001753.5(CAV1):c.368_369del (p.Ser123fs)
|
rs2116116365
|
|
NM_001776.6(ENTPD1):c.574-6_574-3del
|
rs1412393736
|
|
NM_001776.6(ENTPD1):c.770_771del (p.Gly257fs)
|
rs1590126497
|
|
NM_001792.5(CDH2):c.1344+1G>A
|
rs2143975765
|
|
NM_001843.4(CNTN1):c.1805-9354del
|
rs544761896
|
|
NM_001844.5(COL2A1):c.1420-2A>G
|
rs794727377
|
|
NM_001844.5(COL2A1):c.1484G>A (p.Gly495Glu)
|
rs2136571080
|
|
NM_001844.5(COL2A1):c.1492G>C (p.Gly498Arg)
|
rs2136571005
|
|
NM_001844.5(COL2A1):c.1646G>A (p.Gly549Asp)
|
rs2136567807
|
|
NM_001844.5(COL2A1):c.1649G>T (p.Arg550Leu)
|
rs186233557
|
|
NM_001844.5(COL2A1):c.1658_1675del (p.Glu553_Gly558del)
|
rs2136567630
|
|
NM_001844.5(COL2A1):c.1969G>A (p.Gly657Ser)
|
rs1269619781
|
|
NM_001844.5(COL2A1):c.1996-9G>A
|
rs2136555221
|
|
NM_001844.5(COL2A1):c.2101C>T (p.Arg701Ter)
|
rs1555166555
|
|
NM_001844.5(COL2A1):c.2519G>A (p.Gly840Asp)
|
rs2136538046
|
|
NM_001844.5(COL2A1):c.2596C>T (p.Gln866Ter)
|
rs1592206729
|
|
NM_001844.5(COL2A1):c.2609G>A (p.Gly870Glu)
|
rs886041429
|
|
NM_001844.5(COL2A1):c.2617G>T (p.Gly873Trp)
|
rs886041713
|
|
NM_001844.5(COL2A1):c.2679+1G>A
|
rs1592205758
|
|
NM_001844.5(COL2A1):c.2679+69dup
|
rs11443755
|
|
NM_001844.5(COL2A1):c.2833G>A (p.Gly945Ser)
|
rs886039542
|
|
NM_001844.5(COL2A1):c.3013G>A (p.Gly1005Ser)
|
rs753342774
|
|
NM_001844.5(COL2A1):c.3106C>T (p.Arg1036Ter)
|
rs748459670
|
|
NM_001844.5(COL2A1):c.3311G>A (p.Gly1104Glu)
|
rs886043356
|
|
NM_001844.5(COL2A1):c.3455G>A (p.Gly1152Asp)
|
rs2136516779
|
|
NM_001844.5(COL2A1):c.3490G>A (p.Gly1164Ser)
|
rs2136514646
|
|
NM_001844.5(COL2A1):c.3589G>A (p.Gly1197Ser)
|
rs121912870
|
|
NM_001844.5(COL2A1):c.4171T>C (p.Tyr1391His)
|
rs2136505595
|
|
NM_001844.5(COL2A1):c.737G>T (p.Gly246Val)
|
rs2136616311
|
|
NM_001844.5(COL2A1):c.823C>T (p.Arg275Cys)
|
rs121912876
|
|
NM_001845.6(COL4A1):c.1834G>C (p.Gly612Arg)
|
rs1594560766
|
|
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser)
|
rs587780588
|
|
NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg)
|
rs672601346
|
|
NM_001845.6(COL4A1):c.4250-2A>C
|
rs2139146303
|
|
NM_001845.6(COL4A1):c.4546C>T (p.Arg1516Ter)
|
rs1594535661
|
|
NM_001846.4(COL4A2):c.3126del (p.Gly1043fs)
|
rs1268038830
|
|
NM_001846.4(COL4A2):c.3346+1G>A
|
rs2139534321
|
|
NM_001846.4(COL4A2):c.726+4A>G
|
rs2139462568
|
|
NM_001848.3(COL6A1):c.1575+1G>A
|
rs1002726737
|
|
NM_001848.3(COL6A1):c.56_69dup (p.Glu24fs)
|
rs1603589162
|
|
NM_001848.3(COL6A1):c.869G>A (p.Gly290Glu)
|
rs1603590637
|
|
NM_001849.4(COL6A2):c.1053+2T>C
|
rs2123631474
|
|
NM_001849.4(COL6A2):c.1096C>T (p.Arg366Ter)
|
rs387906609
|
|
NM_001849.4(COL6A2):c.1817-3dup
|
rs149954350
|
|
NM_001849.4(COL6A2):c.1976G>C (p.Arg659Pro)
|
rs558005986
|
|
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met)
|
rs794727419
|
|
NM_001849.4(COL6A2):c.901G>T (p.Gly301Cys)
|
rs886042705
|
|
NM_001851.6(COL9A1):c.913-5C>G
|
rs763816689
|
|
NM_001852.4(COL9A2):c.239C>A (p.Pro80His)
|
rs2124101224
|
|
NM_001853.4(COL9A3):c.104G>A (p.Gly35Asp)
|
rs1390736361
|
|
NM_001853.4(COL9A3):c.889A>C (p.Ser297Arg)
|
rs2063567563
|
|
NM_001854.4(COL11A1):c.3168+2_3168+12del
|
rs1570877567
|
|
NM_001854.4(COL11A1):c.3365C>A (p.Pro1122His)
|
rs2101304072
|
|
NM_001854.4(COL11A1):c.3978+1G>A
|
rs1570712889
|
|
NM_001854.4(COL11A1):c.560C>T (p.Thr187Met)
|
rs184606223
|
|
NM_001875.5(CPS1):c.1207del (p.Ala403fs)
|
rs1574566578
|
|
NM_001875.5(CPS1):c.1291G>A (p.Gly431Arg)
|
rs778766382
|
|
NM_001875.5(CPS1):c.1329C>G (p.Tyr443Ter)
|
rs1574567901
|
|
NM_001875.5(CPS1):c.2548C>G (p.Arg850Gly)
|
rs1015051007
|
|
NM_001875.5(CPS1):c.3125A>C (p.Asp1042Ala)
|
rs1574632659
|
|
NM_001875.5(CPS1):c.345_351del (p.Gly116fs)
|
rs2106079710
|
|
NM_001875.5(CPS1):c.3517G>C (p.Ala1173Pro)
|
rs1574646079
|
|
NM_001875.5(CPS1):c.3666+77dup
|
rs61108700
|
|
NM_001875.5(CPS1):c.4275-2A>C
|
rs2105945930
|
|
NM_001876.4(CPT1A):c.2259_2261dup (p.Leu754dup)
|
rs1594313040
|
|
NM_001903.5(CTNNA1):c.1063-8T>G
|
rs1581473850
|
|
NM_001903.5(CTNNA1):c.1389+10A>T
|
rs1051113761
|
|
NM_001904.4(CTNNB1):c.1041_1044del (p.Val349fs)
|
rs1575320216
|
|
NM_001904.4(CTNNB1):c.1081+1G>T
|
rs2078201673
|
|
NM_001904.4(CTNNB1):c.1494dup (p.His499fs)
|
rs1553631896
|
|
NM_001904.4(CTNNB1):c.1530dup (p.Val511fs)
|
rs1575330336
|
|
NM_001904.4(CTNNB1):c.735-1G>C
|
rs2125623951
|
|
NM_001904.4(CTNNB1):c.999C>A (p.Tyr333Ter)
|
rs778624338
|
|
NM_001908.5(CTSB):c.615del (p.Lys206fs)
|
rs1563388045
|
|
NM_001918.5(DBT):c.1082dup (p.Asn361fs)
|
rs1570806631
|
|
NM_001918.5(DBT):c.442G>T (p.Glu148Ter)
|
rs1570820579
|
|
NM_001927.4(DES):c.1091_1108del (p.Gln364_Arg369del)
|
rs1575014889
|
|
NM_001927.4(DES):c.639+4_639+5del
|
rs730880289
|
|
NM_001927.4(DES):c.897+4_897+5del
|
rs397516699
|
|
NM_001931.5(DLAT):c.1474C>G (p.Pro492Ala)
|
rs1374987167
|
|
NM_001931.5(DLAT):c.788-5T>A
|
rs2137753067
|
|
NM_001933.5(DLST):c.1081A>G (p.Ile361Val)
|
rs201053671
|
|
NM_001940.4(ATN1):c.3182TGCACC[3] (p.1061LH[3])
|
rs2138219961
|
|
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs)
|
rs397516706
|
|
NM_001953.4(TYMP):c.929-6_929-3del
|
rs201685922
|
|
NM_001957.4(EDNRA):c.1259G>C (p.Ser420Thr)
|
rs200945454
|
|
NM_001957.4(EDNRA):c.743T>C (p.Met248Thr)
|
rs2126474873
|
|
NM_001958.5(EEF1A2):c.1030-1G>A
|
rs2145938874
|
|
NM_001961.4(EEF2):c.981C>A (p.Asp327Glu)
|
rs762204921
|
|
NM_001972.4(ELANE):c.169G>A (p.Ala57Thr)
|
rs2145144144
|
|
NM_001972.4(ELANE):c.300dup (p.Val101fs)
|
rs2145145158
|
|
NM_001972.4(ELANE):c.366+7C>T
|
rs1258334813
|
|
NM_001972.4(ELANE):c.377C>T (p.Ser126Leu)
|
rs137854450
|
|
NM_001972.4(ELANE):c.52G>C (p.Ala18Pro)
|
rs797045007
|
|
NM_001972.4(ELANE):c.561C>A (p.Cys187Ter)
|
rs797045009
|
|
NM_001972.4(ELANE):c.618G>C (p.Leu206Phe)
|
rs137854446
|
|
NM_001972.4(ELANE):c.669C>A (p.Cys223Ter)
|
rs1599294750
|
|
NM_001987.5(ETV6):c.518C>T (p.Pro173Leu)
|
rs1428361713
|
|
NM_001999.4(FBN2):c.1789A>C (p.Ser597Arg)
|
rs1033872078
|
|
NM_001999.4(FBN2):c.4118T>C (p.Ile1373Thr)
|
rs971727405
|
|
NM_001999.4(FBN2):c.8470G>T (p.Ala2824Ser)
|
rs868262960
|
|
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)
|
rs61816761
|
|
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)
|
rs558269137
|
|
NM_002016.2(FLG):c.2976_2977del (p.Arg992fs)
|
rs776968118
|
|
NM_002016.2(FLG):c.3222_3225del (p.Ser1074fs)
|
rs745915174
|
|
NM_002016.2(FLG):c.4785_4788del (p.Ser1595fs)
|
rs761519693
|
|
NM_002016.2(FLG):c.6950_6957del (p.Ala2316_Ser2317insTer)
|
rs578184315
|
|
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter)
|
rs138726443
|
|
NM_002016.2(FLG):c.7945del (p.Ser2649fs)
|
rs538406713
|
|
NM_002025.4(AFF2):c.-458CGC[6]
|
rs193922937
|
|
NM_002047.4(GARS1):c.1002C>G (p.Ile334Met)
|
rs1303447354
|
|
NM_002047.4(GARS1):c.1186G>A (p.Val396Ile)
|
rs1060502836
|
|
NM_002047.4(GARS1):c.647A>G (p.His216Arg)
|
rs768987322
|
|
NM_002049.4(GATA1):c.231_232dup (p.Tyr78fs)
|
rs2147306077
|
|
NM_002055.5(GFAP):c.1087A>G (p.Ile363Val)
|
rs2145632673
|
|
NM_002055.5(GFAP):c.1235C>T (p.Thr412Ile)
|
rs1597853099
|
|
NM_002055.5(GFAP):c.208C>T (p.Arg70Trp)
|
rs60343255
|
|
NM_002055.5(GFAP):c.218T>C (p.Met73Thr)
|
rs61060395
|
|
NM_002067.5(GNA11):c.476+1G>C
|
rs138878739
|
|
NM_002069.6(GNAI1):c.118G>T (p.Gly40Cys)
|
rs2116052322
|
|
NM_002087.4(GRN):c.1402C>T (p.Gln468Ter)
|
rs63749908
|
|
NM_002087.4(GRN):c.350-50_350-47dup
|
rs34424835
|
|
NM_002087.4(GRN):c.768_769dup (p.Gln257fs)
|
rs1567887004
|
|
NM_002087.4(GRN):c.813_816del (p.Thr272fs)
|
rs63749877
|
|
NM_002087.4(GRN):c.918C>A (p.Cys306Ter)
|
rs1598364782
|
|
NM_002098.6(GUCA1B):c.146_147del (p.Thr49fs)
|
rs1175310819
|
|
NM_002156.5(HSPD1):c.35G>C (p.Arg12Thr)
|
rs1487251268
|
|
NM_002168.4(IDH2):c.1179-3T>A
|
rs772170724
|
|
NM_002180.3(IGHMBP2):c.1313dup (p.Thr439fs)
|
rs1566443170
|
|
NM_002180.3(IGHMBP2):c.1523C>T (p.Ser508Leu)
|
rs754465226
|
|
NM_002180.3(IGHMBP2):c.1632+3del
|
rs2154008712
|
|
NM_002181.4(IHH):c.538_539insTGACTGGGTGGCTTTG (p.Tyr180delinsLeuThrGlyTrpLeuTer)
|
rs2106308415
|
|
NM_002203.4(ITGA2):c.2236-62T>C
|
rs2287871
|
|
NM_002225.5(IVD):c.1009C>G (p.Arg337Gly)
|
rs776608445
|
|
NM_002230.4(JUP):c.572G>T (p.Arg191Leu)
|
rs143502391
|
|
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_002294.3(LAMP2):c.436_440dup (p.Leu147fs)
|
rs2147283096
|
|
NM_002332.3(LRP1):c.300C>T (p.Asp100=)
|
rs1799986
|
|
NM_002334.4(LRP4):c.4478T>A (p.Ile1493Asn)
|
rs1451422777
|
|
NM_002335.4(LRP5):c.1481G>A (p.Arg494Gln)
|
rs121908664
|
|
NM_002335.4(LRP5):c.3857G>A (p.Cys1286Tyr)
|
rs1326459816
|
|
NM_002351.5(SH2D1A):c.160T>A (p.Tyr54Asn)
|
rs2147531326
|
|
NM_002351.5(SH2D1A):c.202-1G>C
|
rs2147534019
|
|
NM_002354.3(EPCAM):c.345G>C (p.Met115Ile)
|
rs115212523
|
|
NM_002354.3(EPCAM):c.658-1G>T
|
rs1573400213
|
|
NM_002373.6(MAP1A):c.5484_5485del (p.Met1829fs)
|
rs2140209334
|
|
NM_002382.5(MAX):c.429G>C (p.Glu143Asp)
|
rs773818427
|
|
NM_002397.5(MEF2C):c.104T>C (p.Leu35Pro)
|
rs2153074771
|
|
NM_002397.5(MEF2C):c.1A>G (p.Met1Val)
|
rs1432291994
|
|
NM_002397.5(MEF2C):c.44G>C (p.Arg15Pro)
|
rs1202957297
|
|
NM_002397.5(MEF2C):c.658C>T (p.Arg220Ter)
|
rs1761818173
|
|
NM_002397.5(MEF2C):c.826C>G (p.Leu276Val)
|
rs2152250513
|
|
NM_002421.4(MMP1):c.105+115del
|
rs5794198
|
|
NM_002435.3(MPI):c.796G>A (p.Glu266Lys)
|
rs1595822583
|
|
NM_002437.5(MPV17):c.268TTG[1] (p.Leu91del)
|
rs267607264
|
|
NM_002439.5(MSH3):c.1028-1A>T
|
rs1008382885
|
|
NM_002439.5(MSH3):c.3244A>G (p.Ile1082Val)
|
rs1746252809
|
|
NM_002439.5(MSH3):c.634A>C (p.Asn212His)
|
rs756439715
|
|
NM_002444.3(MSN):c.1601A>C (p.Asp534Ala)
|
rs1602878106
|
|
NM_002469.3(MYF6):c.340G>T (p.Glu114Ter)
|
rs1592801675
|
|
NM_002470.4(MYH3):c.349-94dup
|
rs370073463
|
|
NM_002470.4(MYH3):c.3611T>C (p.Leu1204Pro)
|
rs1057518008
|
|
NM_002470.4(MYH3):c.4957-115CAAAA[3]
|
rs137999435
|
|
NM_002470.4(MYH3):c.62A>G (p.Glu21Gly)
|
rs1358980010
|
|
NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys)
|
rs80338826
|
|
NM_002473.6(MYH9):c.2129A>C (p.Asn710Thr)
|
rs1364444432
|
|
NM_002473.6(MYH9):c.2507C>T (p.Pro836Leu)
|
rs1603483077
|
|
NM_002473.6(MYH9):c.2725_2726del (p.Lys909fs)
|
rs2146343648
|
|
NM_002473.6(MYH9):c.5251C>T (p.Arg1751Trp)
|
rs770433607
|
|
NM_002474.3(MYH11):c.1750-1G>A
|
rs2151269056
|
|
NM_002474.3(MYH11):c.5188G>T (p.Glu1730Ter)
|
rs766136761
|
|
NM_002485.5(NBN):c.1036G>C (p.Val346Leu)
|
rs200297914
|
|
NM_002485.5(NBN):c.1081A>G (p.Thr361Ala)
|
rs1563538728
|
|
NM_002485.5(NBN):c.1228A>G (p.Ser410Gly)
|
rs1185542329
|
|
NM_002485.5(NBN):c.1417C>G (p.Gln473Glu)
|
rs755805461
|
|
NM_002485.5(NBN):c.156_157del (p.Ser53fs)
|
rs767454740
|
|
NM_002485.5(NBN):c.167A>G (p.Asn56Ser)
|
rs1554569009
|
|
NM_002485.5(NBN):c.179C>A (p.Thr60Lys)
|
rs1586109164
|
|
NM_002485.5(NBN):c.1808T>G (p.Phe603Cys)
|
rs1810522468
|
|
NM_002485.5(NBN):c.1914+2_1914+3del
|
rs1586043528
|
|
NM_002485.5(NBN):c.2020G>A (p.Gly674Ser)
|
rs1563513091
|
|
NM_002485.5(NBN):c.2140C>G (p.Arg714Gly)
|
rs730881864
|
|
NM_002485.5(NBN):c.2150C>T (p.Thr717Ile)
|
rs1554555764
|
|
NM_002485.5(NBN):c.266G>A (p.Arg89Gln)
|
rs747315554
|
|
NM_002485.5(NBN):c.320+40G>T
|
rs749797574
|
|
NM_002485.5(NBN):c.37+2dup
|
rs876658183
|
|
NM_002485.5(NBN):c.442A>G (p.Thr148Ala)
|
rs1060503479
|
|
NM_002485.5(NBN):c.517A>G (p.Lys173Glu)
|
rs1563574056
|
|
NM_002485.5(NBN):c.584+7T>A
|
rs1057523869
|
|
NM_002485.5(NBN):c.585-10A>G
|
rs2129840066
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_002485.5(NBN):c.702+1del
|
rs1586088347
|
|
NM_002485.5(NBN):c.806G>C (p.Cys269Ser)
|
rs768822147
|
|
NM_002485.5(NBN):c.832T>G (p.Ser278Ala)
|
rs1225178489
|
|
NM_002485.5(NBN):c.842dup (p.Leu281fs)
|
rs864309669
|
|
NM_002485.5(NBN):c.860A>G (p.Lys287Arg)
|
rs2129827781
|
|
NM_002485.5(NBN):c.89del (p.Asn30fs)
|
rs587781718
|
|
NM_002485.5(NBN):c.958A>G (p.Lys320Glu)
|
rs1563548624
|
|
NM_002485.5(NBN):c.97A>G (p.Ile33Val)
|
rs1563584435
|
|
NM_002500.5(NEUROD1):c.723C>G (p.His241Gln)
|
rs561017686
|
|
NM_002524.5(NRAS):c.173C>T (p.Thr58Ile)
|
rs2101742052
|
|
NM_002529.4(NTRK1):c.1120A>G (p.Ile374Val)
|
rs1347421266
|
|
NM_002529.4(NTRK1):c.1501+35GT[12]
|
rs56185968
|
|
NM_002529.4(NTRK1):c.1525G>C (p.Asp509His)
|
rs1035934237
|
|
NM_002529.4(NTRK1):c.341C>G (p.Thr114Ser)
|
rs202161010
|
|
NM_002529.4(NTRK1):c.571T>C (p.Cys191Arg)
|
rs1026300967
|
|
NM_002547.3(OPHN1):c.1138+1G>A
|
rs1602226670
|
|
NM_002547.3(OPHN1):c.597+2T>C
|
rs2147484573
|
|
NM_002576.5(PAK1):c.424T>C (p.Tyr142His)
|
rs2137081192
|
|
NM_002585.4(PBX1):c.318dup (p.Arg107fs)
|
rs2102302158
|
|
NM_002609.4(PDGFRB):c.1997A>G (p.Asn666Ser)
|
rs2113894766
|
|
NM_002615.7(SERPINF1):c.998-2A>G
|
rs1555572921
|
|
NM_002617.4(PEX10):c.52G>C (p.Asp18His)
|
rs61750432
|
|
NM_002617.4(PEX10):c.827G>C (p.Cys276Ser)
|
rs1414973726
|
|
NM_002637.4(PHKA1):c.635T>G (p.Leu212Ter)
|
rs2147781328
|
|
NM_002637.4(PHKA1):c.919-2A>G
|
rs2147766482
|
|
NM_002641.4(PIGA):c.109A>G (p.Met37Val)
|
rs2147724073
|
|
NM_002641.4(PIGA):c.1235G>A (p.Arg412Gln)
|
rs1602206653
|
|
NM_002641.4(PIGA):c.1386_1393dup (p.Thr465fs)
|
rs1602206514
|
|
NM_002641.4(PIGA):c.145G>A (p.Val49Met)
|
rs1569180100
|
|
NM_002641.4(PIGA):c.350T>C (p.Phe117Ser)
|
rs2147723760
|
|
NM_002641.4(PIGA):c.955G>A (p.Val319Met)
|
rs765961204
|
|
NM_002653.5(PITX1):c.793G>T (p.Gly265Cys)
|
rs141612135
|
|
NM_002653.5(PITX1):c.89C>T (p.Ala30Val)
|
rs2149562886
|
|
NM_002667.5(PLN):c.131T>C (p.Leu44Pro)
|
rs794729210
|
|
NM_002691.4(POLD1):c.1109G>T (p.Ser370Ile)
|
rs868850526
|
|
NM_002691.4(POLD1):c.1492C>T (p.Gln498Ter)
|
rs1240526196
|
|
NM_002691.4(POLD1):c.1686+43G>T
|
rs201197467
|
|
NM_002691.4(POLD1):c.1687-2A>G
|
rs1568628299
|
|
NM_002691.4(POLD1):c.189G>T (p.Glu63Asp)
|
rs776773005
|
|
NM_002691.4(POLD1):c.19C>T (p.Pro7Ser)
|
rs2122193847
|
|
NM_002691.4(POLD1):c.208G>T (p.Val70Phe)
|
rs147911699
|
|
NM_002691.4(POLD1):c.2155-5G>A
|
rs891420901
|
|
NM_002691.4(POLD1):c.2157C>T (p.Ser719=)
|
rs760678755
|
|
NM_002691.4(POLD1):c.230C>G (p.Pro77Arg)
|
rs1555789213
|
|
NM_002691.4(POLD1):c.2449C>G (p.Arg817Gly)
|
rs148176230
|
|
NM_002691.4(POLD1):c.278C>T (p.Pro93Leu)
|
rs2122203287
|
|
NM_002691.4(POLD1):c.2874G>A (p.Leu958=)
|
rs1568639764
|
|
NM_002691.4(POLD1):c.3067+11del
|
rs780881147
|
|
NM_002691.4(POLD1):c.3073G>A (p.Val1025Met)
|
rs1060501858
|
|
NM_002691.4(POLD1):c.3121-33G>C
|
rs376468859
|
|
NM_002691.4(POLD1):c.3293G>T (p.Arg1098Leu)
|
rs878854552
|
|
NM_002691.4(POLD1):c.3316G>A (p.Ala1106Thr)
|
rs778990190
|
|
NM_002691.4(POLD1):c.536G>T (p.Gly179Val)
|
rs1060501831
|
|
NM_002691.4(POLD1):c.657C>T (p.Leu219=)
|
rs777751728
|
|
NM_002691.4(POLD1):c.900G>A (p.Pro300=)
|
rs142407935
|
|
NM_002693.3(POLG):c.1198G>A (p.Val400Met)
|
rs529639381
|
|
NM_002693.3(POLG):c.2582C>T (p.Thr861Ile)
|
rs2152061673
|
|
NM_002693.3(POLG):c.844T>G (p.Tyr282Asp)
|
rs1290567099
|
|
NM_002734.5(PRKAR1A):c.25A>G (p.Ser9Gly)
|
rs778468626
|
|
NM_002734.5(PRKAR1A):c.349-5T>C
|
rs1456043929
|
|
NM_002739.5(PRKCG):c.230G>A (p.Cys77Tyr)
|
rs1599938631
|
|
NM_002739.5(PRKCG):c.367G>C (p.Gly123Arg)
|
rs386134164
|
|
NM_002739.5(PRKCG):c.379C>A (p.Gln127Lys)
|
rs1599943097
|
|
NM_002742.3(PRKD1):c.1316G>A (p.Arg439Gln)
|
rs1439477100
|
|
NM_002742.3(PRKD1):c.2443C>G (p.Leu815Val)
|
rs2138942108
|
|
NM_002742.3(PRKD1):c.922T>G (p.Cys308Gly)
|
rs2139136006
|
|
NM_002746.3(MAPK3):c.164T>C (p.Met55Thr)
|
rs889768664
|
|
NM_002755.4(MAP2K1):c.370C>T (p.Pro124Ser)
|
rs1057519732
|
|
NM_002764.4(PRPS1):c.127G>A (p.Glu43Lys)
|
rs2147681381
|
|
NM_002764.4(PRPS1):c.359G>T (p.Gly120Val)
|
rs1602901832
|
|
NM_002769.5(PRSS1):c.161A>G (p.Asn54Ser)
|
rs144422014
|
|
NM_002769.5(PRSS1):c.200+1G>A
|
rs143909348
|
|
NM_002769.5(PRSS1):c.529G>T (p.Gly177Ter)
|
rs1240508430
|
|
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile)
|
rs111033566
|
|
NM_002778.4(PSAP):c.643A>C (p.Asn215His)
|
rs121918107
|
|
NM_002816.5(PSMD12):c.1096A>G (p.Met366Val)
|
rs1598552881
|
|
NM_002821.5(PTK7):c.2088T>G (p.Pro696=)
|
rs1036437395
|
|
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)
|
rs267606990
|
|
NM_002834.5(PTPN11):c.643-61_643-38del
|
rs1592831434
|
|
NM_002834.5(PTPN11):c.663A>G (p.Ile221Met)
|
|
|
NM_002860.4(ALDH18A1):c.401C>T (p.Ser134Phe)
|
rs2139621988
|
|
NM_002863.5(PYGL):c.1404-1G>A
|
rs750567664
|
|
NM_002863.5(PYGL):c.176C>A (p.Thr59Lys)
|
rs150483902
|
|
NM_002863.5(PYGL):c.2071G>A (p.Gly691Arg)
|
rs539898848
|
|
NM_002875.5(RAD51):c.1dup (p.Met1fs)
|
rs55714242
|
|
NM_002875.5(RAD51):c.671C>G (p.Ala224Gly)
|
|
|
NM_002878.4(RAD51D):c.109G>C (p.Glu37Gln)
|
rs876659848
|
|
NM_002878.4(RAD51D):c.192C>T (p.Phe64=)
|
rs1567735397
|
|
NM_002878.4(RAD51D):c.1A>G (p.Met1Val)
|
rs561425038
|
|
NM_002878.4(RAD51D):c.232T>G (p.Ser78Ala)
|
rs1567735315
|
|
NM_002878.4(RAD51D):c.263+1450T>A
|
rs1567734484
|
|
NM_002878.4(RAD51D):c.263+1551G>T
|
rs780006577
|
|
NM_002878.4(RAD51D):c.263+1644T>C
|
rs1597874516
|
|
NM_002878.4(RAD51D):c.401A>G (p.Tyr134Cys)
|
rs1567728366
|
|
NM_002878.4(RAD51D):c.475del (p.Glu159fs)
|
rs1597862493
|
|
NM_002878.4(RAD51D):c.480+4A>G
|
rs1567728211
|
|
NM_002878.4(RAD51D):c.481G>T (p.Ala161Ser)
|
rs1567727951
|
|
NM_002878.4(RAD51D):c.493C>G (p.Arg165Gly)
|
rs544654228
|
|
NM_002878.4(RAD51D):c.667+2_667+23del
|
rs1597858626
|
|
NM_002878.4(RAD51D):c.736G>A (p.Val246Met)
|
rs1597858213
|
|
NM_002878.4(RAD51D):c.738+10C>A
|
rs777453585
|
|
NM_002878.4(RAD51D):c.80C>T (p.Thr27Ile)
|
rs139642328
|
|
NM_002878.4(RAD51D):c.83-3C>G
|
rs1555570424
|
|
NM_002878.4(RAD51D):c.83-4T>A
|
rs1567735916
|
|
NM_002878.4(RAD51D):c.844G>A (p.Glu282Lys)
|
rs1447892901
|
|
NM_002878.4(RAD51D):c.86T>C (p.Val29Ala)
|
rs1567735899
|
|
NM_002878.4(RAD51D):c.883C>G (p.Leu295Val)
|
rs752910287
|
|
NM_002880.4(RAF1):c.1082G>C (p.Gly361Ala)
|
rs397516813
|
|
NM_002880.4(RAF1):c.226A>G (p.Met76Val)
|
rs730880999
|
|
NM_002880.4(RAF1):c.773C>G (p.Thr258Arg)
|
rs1575573330
|
|
NM_002880.4(RAF1):c.776C>A (p.Ser259Tyr)
|
rs397516827
|
|
NM_002880.4(RAF1):c.834+8G>A
|
rs727504615
|
|
NM_002892.4(ARID4A):c.1854G>T (p.Arg618Ser)
|
rs2035018997
|
|
NM_002907.4(RECQL):c.-45-1G>A
|
rs756434860
|
|
NM_002907.4(RECQL):c.-67T>C
|
rs1172083327
|
|
NM_002907.4(RECQL):c.1099-2A>G
|
rs1591973610
|
|
NM_002907.4(RECQL):c.120dup (p.Val41fs)
|
rs745659712
|
|
NM_002907.4(RECQL):c.1253A>C (p.Tyr418Ser)
|
rs1295951241
|
|
NM_002907.4(RECQL):c.1339T>C (p.Cys447Arg)
|
rs113415183
|
|
NM_002907.4(RECQL):c.1694C>G (p.Ala565Gly)
|
rs1248986058
|
|
NM_002907.4(RECQL):c.1750C>T (p.His584Tyr)
|
rs1318382161
|
|
NM_002907.4(RECQL):c.1798-2_1798-1del
|
rs1591964988
|
|
NM_002907.4(RECQL):c.1798-2_1798-1insT
|
rs1565560075
|
|
NM_002907.4(RECQL):c.1801G>T (p.Glu601Ter)
|
rs1383372186
|
|
NM_002907.4(RECQL):c.1808C>T (p.Ser603Phe)
|
rs767841512
|
|
NM_002907.4(RECQL):c.1817G>T (p.Cys606Phe)
|
rs1191345404
|
|
NM_002907.4(RECQL):c.1856A>T (p.Asn619Ile)
|
rs2137305371
|
|
NM_002907.4(RECQL):c.214+6C>T
|
rs768701992
|
|
NM_002907.4(RECQL):c.215-20_223del
|
rs1591988737
|
|
NM_002907.4(RECQL):c.292G>T (p.Glu98Ter)
|
rs1010112210
|
|
NM_002907.4(RECQL):c.371A>T (p.Gln124Leu)
|
rs1183902842
|
|
NM_002907.4(RECQL):c.395-5T>C
|
rs2137388604
|
|
NM_002907.4(RECQL):c.395-7del
|
rs1591984814
|
|
NM_002907.4(RECQL):c.487G>T (p.Ala163Ser)
|
rs1565570972
|
|
NM_002907.4(RECQL):c.493_497del (p.Ser164_Ser165insTer)
|
rs1565570957
|
|
NM_002907.4(RECQL):c.501+15C>T
|
rs373601640
|
|
NM_002907.4(RECQL):c.675_676insGATGTAG (p.Gln226fs)
|
rs1591981391
|
|
NM_002907.4(RECQL):c.676delinsGATGTAGCATGT (p.Gln226fs)
|
rs1565569139
|
|
NM_002907.4(RECQL):c.677_678insTGTA (p.Gln226fs)
|
rs1591981379
|
|
NM_002907.4(RECQL):c.82C>T (p.Leu28Phe)
|
rs1565574166
|
|
NM_002907.4(RECQL):c.933A>T (p.Arg311Ser)
|
rs1565565568
|
|
NM_002968.3(SALL1):c.1007G>C (p.Gly336Ala)
|
rs771174750
|
|
NM_002968.3(SALL1):c.1301C>T (p.Thr434Ile)
|
rs2143446657
|
|
NM_002968.3(SALL1):c.949C>T (p.Pro317Ser)
|
rs864621971
|
|
NM_002968.3(SALL1):c.967C>T (p.Gln323Ter)
|
rs104894538
|
|
NM_002971.6(SATB1):c.1219G>C (p.Glu407Gln)
|
rs2125208683
|
|
NM_002979.5(SCP2):c.70-47del
|
rs143386725
|
|
NM_003000.3(SDHB):c.540+11C>T
|
rs1160578491
|
|
NM_003000.3(SDHB):c.559A>G (p.Ile187Val)
|
rs1557739989
|
|
NM_003000.3(SDHB):c.591del (p.Ser198fs)
|
rs1060503757
|
|
NM_003000.3(SDHB):c.721T>G (p.Tyr241Asp)
|
rs1060503758
|
|
NM_003000.3(SDHB):c.73-21G>T
|
rs1311107626
|
|
NM_003031.4(SIAH1):c.484G>A (p.Asp162Asn)
|
rs2151043928
|
|
NM_003042.4(SLC6A1):c.1151TCT[2] (p.Phe386del)
|
rs2124930894
|
|
NM_003042.4(SLC6A1):c.1528G>A (p.Gly510Ser)
|
rs2124944413
|
|
NM_003042.4(SLC6A1):c.1648G>A (p.Gly550Arg)
|
rs886042046
|
|
NM_003042.4(SLC6A1):c.317A>G (p.Gln106Arg)
|
rs1064795290
|
|
NM_003042.4(SLC6A1):c.416A>G (p.Tyr139Cys)
|
rs2124908722
|
|
NM_003042.4(SLC6A1):c.640_658del (p.Leu214fs)
|
rs1553688970
|
|
NM_003042.4(SLC6A1):c.806T>C (p.Leu269Pro)
|
rs2124924369
|
|
NM_003042.4(SLC6A1):c.875TCT[2] (p.Phe294del)
|
rs1574907198
|
|
NM_003051.4(SLC16A1):c.982C>T (p.Arg328Ter)
|
rs606231310
|
|
NM_003060.4(SLC22A5):c.254_264dup (p.Ile89fs)
|
rs377767449
|
|
NM_003060.4(SLC22A5):c.631T>C (p.Tyr211His)
|
rs780314370
|
|
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val)
|
rs386134199
|
|
NM_003060.4(SLC22A5):c.952-5_955del
|
rs2126787981
|
|
NM_003068.5(SNAI2):c.364G>A (p.Ala122Thr)
|
rs907510990
|
|
NM_003070.5(SMARCA2):c.2258T>A (p.Leu753His)
|
rs2130464312
|
|
NM_003070.5(SMARCA2):c.3587A>C (p.Gln1196Pro)
|
rs1586721515
|
|
NM_003070.5(SMARCA2):c.669GCA[11] (p.Gln237_Gln238del)
|
rs113070757
|
|
NM_003070.5(SMARCA2):c.929C>A (p.Pro310Gln)
|
rs1330852847
|
|
NM_003072.5(SMARCA4):c.-32+34C>T
|
rs1351249230
|
|
NM_003072.5(SMARCA4):c.1351C>T (p.Arg451Cys)
|
rs2086534839
|
|
NM_003072.5(SMARCA4):c.2048C>T (p.Pro683Leu)
|
rs878854203
|
|
NM_003072.5(SMARCA4):c.2156G>A (p.Gly719Asp)
|
rs2088712889
|
|
NM_003072.5(SMARCA4):c.2297T>G (p.Val766Gly)
|
rs201128299
|
|
NM_003073.5(SMARCB1):c.307_346del (p.Asn103fs)
|
rs2145964108
|
|
NM_003073.5(SMARCB1):c.747dup (p.Thr250fs)
|
rs2146010204
|
|
NM_003107.3(SOX4):c.975C>G (p.Tyr325Ter)
|
rs1305965061
|
|
NM_003108.4(SOX11):c.1109C>T (p.Ser370Phe)
|
rs991368727
|
|
NM_003108.4(SOX11):c.167T>G (p.Phe56Cys)
|
rs2103276337
|
|
NM_003108.4(SOX11):c.170T>C (p.Met57Thr)
|
rs2103276340
|
|
NM_003119.4(SPG7):c.1779+5G>T
|
rs1567931957
|
|
NM_003119.4(SPG7):c.1997G>T (p.Gly666Val)
|
rs1597665080
|
|
NM_003119.4(SPG7):c.773_774del (p.Val258fs)
|
rs768136171
|
|
NM_003126.4(SPTA1):c.1833+1G>A
|
rs1035389616
|
|
NM_003126.4(SPTA1):c.4339-99C>T
|
rs200830867
|
|
NM_003126.4(SPTA1):c.570G>A (p.Trp190Ter)
|
rs1571530070
|
|
NM_003126.4(SPTA1):c.6417G>C (p.Glu2139Asp)
|
rs752114200
|
|
NM_003126.4(SPTA1):c.6421C>T (p.Arg2141Trp)
|
rs41273519
|
|
NM_003128.3(SPTBN1):c.1043G>C (p.Arg348Pro)
|
rs748951777
|
|
NM_003128.3(SPTBN1):c.4543C>T (p.His1515Tyr)
|
rs1238041705
|
|
NM_003128.3(SPTBN1):c.586C>T (p.His196Tyr)
|
rs2103838550
|
|
NM_003143.3(SSBP1):c.320G>A (p.Arg107Gln)
|
rs1799747454
|
|
NM_003172.4(SURF1):c.11_27dup (p.Gly10fs)
|
rs1588693841
|
|
NM_003172.4(SURF1):c.236G>A (p.Trp79Ter)
|
rs1244071473
|
|
NM_003172.4(SURF1):c.870dup (p.Lys291Ter)
|
rs782061187
|
|
NM_003227.4(TFR2):c.2101C>T (p.Arg701Ter)
|
rs946552921
|
|
NM_003235.5(TG):c.4369C>G (p.Leu1457Val)
|
rs989763340
|
|
NM_003235.5(TG):c.946G>A (p.Val316Ile)
|
rs1001892478
|
|
NM_003239.5(TGFB3):c.171del (p.Glu58fs)
|
rs1594792466
|
|
NM_003242.6(TGFBR2):c.1134G>C (p.Arg378Ser)
|
rs1575158079
|
|
NM_003242.6(TGFBR2):c.1159G>A (p.Val387Met)
|
rs35766612
|
|
NM_003242.6(TGFBR2):c.1447del (p.Cys483fs)
|
rs2125451831
|
|
NM_003242.6(TGFBR2):c.1561T>C (p.Trp521Arg)
|
rs1575166666
|
|
NM_003242.6(TGFBR2):c.1570G>A (p.Asp524Asn)
|
rs727504421
|
|
NM_003285.3(TNR):c.2818del (p.Glu940fs)
|
rs2102011470
|
|
NM_003285.3(TNR):c.3916A>C (p.Thr1306Pro)
|
rs199853947
|
|
NM_003289.4(TPM2):c.394_396dup (p.Asn132dup)
|
rs2131852702
|
|
NM_003289.4(TPM2):c.773-3dup
|
rs35401252
|
|
NM_003322.6(TULP1):c.1388del (p.Asn463fs)
|
rs1581736024
|
|
NM_003336.4(UBE2A):c.31_42del (p.Asp12_Arg15del)
|
rs1603308066
|
|
NM_003361.4(UMOD):c.263G>A (p.Gly88Asp)
|
rs2141676609
|
|
NM_003361.4(UMOD):c.362A>G (p.His121Arg)
|
rs997687142
|
|
NM_003361.4(UMOD):c.890G>A (p.Cys297Tyr)
|
rs1596560944
|
|
NM_003392.7(WNT5A):c.332G>A (p.Arg111Gln)
|
rs2106945475
|
|
NM_003413.4(ZIC3):c.135CGC[8] (p.Ala55del)
|
rs748325646
|
|
NM_003467.3(CXCR4):c.1013C>A (p.Ser338Ter)
|
rs104893626
|
|
NM_003470.3(USP7):c.715C>T (p.Arg239Ter)
|
rs781247345
|
|
NM_003482.4(KMT2D):c.10777del (p.Ala3593fs)
|
rs1592122640
|
|
NM_003482.4(KMT2D):c.11766_11825del (p.Leu3926_Gln3945del)
|
rs2120435996
|
|
NM_003482.4(KMT2D):c.11796_11813del (p.Gln3934_Gln3939del)
|
rs759803583
|
|
NM_003482.4(KMT2D):c.14140A>T (p.Ile4714Phe)
|
rs1592110609
|
|
NM_003482.4(KMT2D):c.14529G>T (p.Lys4843Asn)
|
rs764121956
|
|
NM_003482.4(KMT2D):c.14976del (p.Leu4993fs)
|
rs1592106220
|
|
NM_003482.4(KMT2D):c.14989C>T (p.Gln4997Ter)
|
rs2120365558
|
|
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter)
|
rs587783695
|
|
NM_003482.4(KMT2D):c.16412+2_16412+16del
|
rs2137704696
|
|
NM_003482.4(KMT2D):c.176+1G>A
|
rs1592162768
|
|
NM_003482.4(KMT2D):c.2250_2276del (p.746RPEEPHLSP[1])
|
rs587778449
|
|
NM_003482.4(KMT2D):c.2471T>G (p.Leu824Trp)
|
rs2120665449
|
|
NM_003482.4(KMT2D):c.3392C>T (p.Pro1131Leu)
|
rs201623566
|
|
NM_003482.4(KMT2D):c.4163G>T (p.Arg1388Leu)
|
rs202217665
|
|
NM_003482.4(KMT2D):c.4237-2A>C
|
rs797045001
|
|
NM_003482.4(KMT2D):c.6058C>T (p.Pro2020Ser)
|
rs939099741
|
|
NM_003482.4(KMT2D):c.7021C>T (p.Gln2341Ter)
|
rs1592136242
|
|
NM_003482.4(KMT2D):c.8046+4del
|
rs1592133674
|
|
NM_003482.4(KMT2D):c.8230-1G>A
|
rs1592132971
|
|
NM_003482.4(KMT2D):c.9822GCA[5] (p.Gln3282dup)
|
rs768814728
|
|
NM_003491.4(NAA10):c.116C>T (p.Pro39Leu)
|
rs1557107942
|
|
NM_003491.4(NAA10):c.377T>G (p.Leu126Arg)
|
rs1603290291
|
|
NM_003491.4(NAA10):c.445C>T (p.Arg149Trp)
|
rs2065162324
|
|
NM_003512.4(H2AC6):c.392G>T (p.Ter131Leu)
|
rs1484017288
|
|
NM_003560.3(PLA2G6):c.[1351delC];[1942G>A]
|
|
|
NM_003560.4(PLA2G6):c.1069G>A (p.Ala357Thr)
|
rs2145770192
|
|
NM_003560.4(PLA2G6):c.1085A>T (p.Asn362Ile)
|
rs2145753835
|
|
NM_003560.4(PLA2G6):c.1428-5T>G
|
rs1555988730
|
|
NM_003560.4(PLA2G6):c.1474_1478del (p.Ile492fs)
|
rs2145722213
|
|
NM_003560.4(PLA2G6):c.1624T>G (p.Phe542Val)
|
rs1602088419
|
|
NM_003560.4(PLA2G6):c.164G>A (p.Trp55Ter)
|
rs1177564212
|
|
NM_003560.4(PLA2G6):c.1772G>A (p.Arg591Gln)
|
rs776713955
|
|
NM_003560.4(PLA2G6):c.1778C>T (p.Pro593Leu)
|
rs1451486649
|
|
NM_003560.4(PLA2G6):c.1969G>A (p.Ala657Thr)
|
rs1318351016
|
|
NM_003560.4(PLA2G6):c.2276+1G>A
|
rs1397030516
|
|
NM_003560.4(PLA2G6):c.2350G>A (p.Glu784Lys)
|
rs1602051017
|
|
NM_003560.4(PLA2G6):c.437dup (p.Cys146fs)
|
rs1216972369
|
|
NM_003560.4(PLA2G6):c.798-22A>T
|
rs372731031
|
|
NM_003579.4(RAD54L):c.1099del (p.Ala367fs)
|
rs765127725
|
|
NM_003579.4(RAD54L):c.1870-1G>A
|
rs1569626449
|
|
NM_003590.5(CUL3):c.173A>G (p.Tyr58Cys)
|
rs1553535841
|
|
NM_003611.3(OFD1):c.1007dup (p.Ser337fs)
|
rs749448671
|
|
NM_003611.3(OFD1):c.802_820del (p.Leu268fs)
|
rs2146970113
|
|
NM_003620.4(PPM1D):c.1267G>T (p.Glu423Ter)
|
rs1057524700
|
|
NM_003620.4(PPM1D):c.1535del (p.Asn512fs)
|
rs763475304
|
|
NM_003620.4(PPM1D):c.811G>A (p.Val271Ile)
|
rs1001134677
|
|
NM_003660.4(PPFIA3):c.128T>A (p.Leu43Gln)
|
rs777450948
|
|
NM_003661.4(APOL1):c.1164_1169del (p.Asn388_Tyr389del)
|
rs71785313
|
|
NM_003665.4(FCN3):c.349del (p.Leu117fs)
|
rs532781899
|
|
NM_003673.4(TCAP):c.34GAG[1] (p.Glu13del)
|
rs397516862
|
|
NM_003680.4(YARS1):c.1034C>T (p.Ser345Leu)
|
rs35746182
|
|
NM_003690.5(PRKRA):c.22_23del (p.Ala8fs)
|
rs141354030
|
|
NM_003690.5(PRKRA):c.66-4_66-3insGGACCTT
|
rs1553599483
|
|
NM_003718.5(CDK13):c.2563G>C (p.Asp855His)
|
rs2150517037
|
|
NM_003718.5(CDK13):c.2611A>G (p.Thr871Ala)
|
rs2150526768
|
|
NM_003719.5(PDE8B):c.1031T>G (p.Val344Gly)
|
rs767230883
|
|
NM_003722.5(TP63):c.1350-6315C>A
|
rs1577182394
|
|
NM_003722.5(TP63):c.324+7G>A
|
rs930341004
|
|
NM_003722.5(TP63):c.325-18543_325-18542insAGAG
|
rs34201045
|
|
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer)
|
rs56126236
|
|
NM_003738.5(PTCH2):c.618-6C>A
|
rs924268501
|
|
NM_003742.4(ABCB11):c.2076-1G>A
|
rs2105947080
|
|
NM_003742.4(ABCB11):c.2179-1G>A
|
rs2105935255
|
|
NM_003742.4(ABCB11):c.257T>A (p.Met86Lys)
|
rs1258387740
|
|
NM_003742.4(ABCB11):c.3174del (p.Gln1058fs)
|
rs2105891349
|
|
NM_003764.4(STX11):c.448G>T (p.Glu150Ter)
|
rs2128757192
|
|
NM_003764.4(STX11):c.554dup (p.Trp186fs)
|
rs1317576992
|
|
NM_003764.4(STX11):c.581_584del (p.Leu194fs)
|
rs1584062332
|
|
NM_003797.5(EED):c.1133C>T (p.Ala378Val)
|
rs1593776227
|
|
NM_003801.4(GPAA1):c.1826C>T (p.Pro609Leu)
|
rs868951923
|
|
NM_003849.4(SUCLG1):c.201+1G>T
|
rs1573374828
|
|
NM_003849.4(SUCLG1):c.457G>T (p.Val153Leu)
|
rs1573369932
|
|
NM_003849.4(SUCLG1):c.457_458delinsTA (p.Val153Ter)
|
rs1573369929
|
|
NM_003849.4(SUCLG1):c.458T>A (p.Val153Glu)
|
rs1573369925
|
|
NM_003849.4(SUCLG1):c.643C>T (p.Gln215Ter)
|
rs2104245141
|
|
NM_003850.3(SUCLA2):c.887del (p.Gln296fs)
|
rs1593479845
|
|
NM_003850.3(SUCLA2):c.91-10A>G
|
rs754813556
|
|
NM_003850.3(SUCLA2):c.920C>T (p.Ala307Val)
|
rs1011464708
|
|
NM_003859.3(DPM1):c.649G>A (p.Ala217Thr)
|
rs1197456861
|
|
NM_003865.3(HESX1):c.460-7A>G
|
rs1579346889
|
|
NM_003907.3(EIF2B5):c.1030C>G (p.Arg344Gly)
|
rs1560108537
|
|
NM_003907.3(EIF2B5):c.407G>A (p.Arg136His)
|
rs958193703
|
|
NM_003907.3(EIF2B5):c.913A>T (p.Met305Leu)
|
rs200143780
|
|
NM_003919.3(SGCE):c.402C>A (p.Tyr134Ter)
|
rs1554355416
|
|
NM_003919.3(SGCE):c.723_724dup (p.Pro242fs)
|
rs2116723835
|
|
NM_003919.3(SGCE):c.793C>T (p.Gln265Ter)
|
rs1584546131
|
|
NM_003924.4(PHOX2B):c.741_755dup (p.Ala256_Ala260dup)
|
rs775006915
|
|
NM_003931.3(WASF1):c.136A>T (p.Lys46Ter)
|
rs778229060
|
|
NM_003995.4(NPR2):c.653G>A (p.Arg218Gln)
|
rs1285934866
|
|
NM_003998.4(NFKB1):c.407+2T>G
|
rs2149168346
|
|
NM_004004.6(GJB2):c.148G>A (p.Asp50Asn)
|
rs28931594
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004004.6(GJB2):c.412A>G (p.Ser138Gly)
|
rs397516876
|
|
NM_004006.2(DMD):c.10453dup (p.Leu3485Profs)
|
rs886043375
|
|
NM_004006.3(DMD):c.10077T>G (p.Tyr3359Ter)
|
rs1181271457
|
|
NM_004006.3(DMD):c.10086+1G>T
|
rs398123828
|
|
NM_004006.3(DMD):c.10087-1G>A
|
rs1602417503
|
|
NM_004006.3(DMD):c.10097_10099del (p.Gly3366del)
|
rs1060502613
|
|
NM_004006.3(DMD):c.10223+4A>G
|
rs2148290215
|
|
NM_004006.3(DMD):c.10223+5G>C
|
rs2148290176
|
|
NM_004006.3(DMD):c.10224-1dup
|
rs1602409174
|
|
NM_004006.3(DMD):c.10224dup (p.Pro3409fs)
|
rs2148280837
|
|
NM_004006.3(DMD):c.10262+1G>T
|
rs145603325
|
|
NM_004006.3(DMD):c.10304C>G (p.Ser3435Ter)
|
rs1602369798
|
|
NM_004006.3(DMD):c.10367del (p.Asn3456fs)
|
rs1556028034
|
|
NM_004006.3(DMD):c.10429C>T (p.Gln3477Ter)
|
rs895755247
|
|
NM_004006.3(DMD):c.10498_10499del (p.Glu3499_Ser3500insTer)
|
rs1602337330
|
|
NM_004006.3(DMD):c.10633_10634dup (p.Met3545fs)
|
rs1602146767
|
|
NM_004006.3(DMD):c.10677dup (p.Ala3560fs)
|
rs2147934458
|
|
NM_004006.3(DMD):c.1098A>T (p.Gly366=)
|
rs72470507
|
|
NM_004006.3(DMD):c.1098dup (p.Glu367fs)
|
rs2146833198
|
|
NM_004006.3(DMD):c.1129del (p.Asp377fs)
|
rs1602467787
|
|
NM_004006.3(DMD):c.1144del (p.His382fs)
|
rs1602467590
|
|
NM_004006.3(DMD):c.1147G>T (p.Glu383Ter)
|
rs1602467530
|
|
NM_004006.3(DMD):c.1150-2A>T
|
rs794727030
|
|
NM_004006.3(DMD):c.1329C>T (p.Ser443=)
|
rs1060502631
|
|
NM_004006.3(DMD):c.1331+3_1331+6del
|
rs2146818031
|
|
NM_004006.3(DMD):c.1351G>T (p.Asp451Tyr)
|
rs1602169535
|
|
NM_004006.3(DMD):c.1412C>T (p.Thr471Ile)
|
rs201058100
|
|
NM_004006.3(DMD):c.1422G>T (p.Met474Ile)
|
rs1602169021
|
|
NM_004006.3(DMD):c.1480A>T (p.Lys494Ter)
|
rs1234153462
|
|
NM_004006.3(DMD):c.1489C>T (p.Gln497Ter)
|
rs128626241
|
|
NM_004006.3(DMD):c.1602+2T>A
|
rs2149264374
|
|
NM_004006.3(DMD):c.1664_1667dup (p.Asp556fs)
|
rs1601810667
|
|
NM_004006.3(DMD):c.1734dup (p.Glu579fs)
|
rs398123866
|
|
NM_004006.3(DMD):c.1750A>T (p.Lys584Ter)
|
rs1601808608
|
|
NM_004006.3(DMD):c.1777C>T (p.Gln593Ter)
|
rs1601808326
|
|
NM_004006.3(DMD):c.1788del (p.Met596fs)
|
rs1601808296
|
|
NM_004006.3(DMD):c.1791dup (p.Ser598fs)
|
rs1601808288
|
|
NM_004006.3(DMD):c.1863T>G (p.Tyr621Ter)
|
rs2149095319
|
|
NM_004006.3(DMD):c.1894A>T (p.Lys632Ter)
|
rs1603636541
|
|
NM_004006.3(DMD):c.1941dup (p.Ala648fs)
|
rs2149094788
|
|
NM_004006.3(DMD):c.1966C>T (p.Gln656Ter)
|
rs1603636537
|
|
NM_004006.3(DMD):c.196A>T (p.Lys66Ter)
|
rs1603447072
|
|
NM_004006.3(DMD):c.2017C>T (p.Gln673Ter)
|
rs128626232
|
|
NM_004006.3(DMD):c.2064dup (p.Thr689fs)
|
rs1603635953
|
|
NM_004006.3(DMD):c.208A>T (p.Arg70Ter)
|
rs2080510348
|
|
NM_004006.3(DMD):c.2101del (p.Glu701fs)
|
rs1603635950
|
|
NM_004006.3(DMD):c.2114del (p.Pro705fs)
|
rs1603635949
|
|
NM_004006.3(DMD):c.2169-1G>A
|
rs1603635331
|
|
NM_004006.3(DMD):c.2215_2216del (p.Glu739fs)
|
rs2148804513
|
|
NM_004006.3(DMD):c.2287_2292+12del
|
rs1603635326
|
|
NM_004006.3(DMD):c.2293-2_2294del
|
rs2148691727
|
|
NM_004006.3(DMD):c.2302C>T (p.Arg768Ter)
|
rs201366610
|
|
NM_004006.3(DMD):c.2305G>T (p.Glu769Ter)
|
rs2148691516
|
|
NM_004006.3(DMD):c.2365G>T (p.Glu789Ter)
|
rs763844939
|
|
NM_004006.3(DMD):c.2380+1G>A
|
rs398123884
|
|
NM_004006.3(DMD):c.2407del (p.Gln803fs)
|
rs1603634748
|
|
NM_004006.3(DMD):c.2436G>A (p.Trp812Ter)
|
rs398123889
|
|
NM_004006.3(DMD):c.2442del (p.Glu814fs)
|
rs1603634747
|
|
NM_004006.3(DMD):c.2448C>A (p.Cys816Ter)
|
rs1603634746
|
|
NM_004006.3(DMD):c.2461G>T (p.Glu821Ter)
|
rs1603634745
|
|
NM_004006.3(DMD):c.2465_2466del (p.Arg822fs)
|
rs1603634744
|
|
NM_004006.3(DMD):c.2499del (p.Ile833fs)
|
rs2148631657
|
|
NM_004006.3(DMD):c.2529del (p.Glu843fs)
|
rs1603634743
|
|
NM_004006.3(DMD):c.2572_2578del (p.Thr858fs)
|
rs1603634742
|
|
NM_004006.3(DMD):c.261_264+3del
|
rs2148984206
|
|
NM_004006.3(DMD):c.2622+1G>T
|
rs398123901
|
|
NM_004006.3(DMD):c.2633A>G (p.Asn878Ser)
|
rs2148584563
|
|
NM_004006.3(DMD):c.263_264dup (p.Val89fs)
|
rs1603447057
|
|
NM_004006.3(DMD):c.264+5G>A
|
rs398123902
|
|
NM_004006.3(DMD):c.2642C>A (p.Ser881Ter)
|
rs747937552
|
|
NM_004006.3(DMD):c.265-463A>G
|
rs1603441629
|
|
NM_004006.3(DMD):c.2669T>G (p.Leu890Ter)
|
rs1557380616
|
|
NM_004006.3(DMD):c.266T>C (p.Val89Ala)
|
rs1557058441
|
|
NM_004006.3(DMD):c.2694dup (p.Glu899fs)
|
rs1603634609
|
|
NM_004006.3(DMD):c.2708del (p.Gly903fs)
|
rs1603634607
|
|
NM_004006.3(DMD):c.2792_2793del (p.Glu931fs)
|
rs1603634604
|
|
NM_004006.3(DMD):c.2803+5G>C
|
rs1603634603
|
|
NM_004006.3(DMD):c.2834A>G (p.Gln945Arg)
|
rs2040732218
|
|
NM_004006.3(DMD):c.2853del (p.Arg952fs)
|
rs1603634299
|
|
NM_004006.3(DMD):c.2869C>T (p.Gln957Ter)
|
rs1603634298
|
|
NM_004006.3(DMD):c.2873C>G (p.Ser958Ter)
|
rs2148485357
|
|
NM_004006.3(DMD):c.2926G>T (p.Glu976Ter)
|
rs767387334
|
|
NM_004006.3(DMD):c.2950-2A>G
|
rs398123915
|
|
NM_004006.3(DMD):c.2960del (p.Ser987fs)
|
rs1603634207
|
|
NM_004006.3(DMD):c.3013G>T (p.Glu1005Ter)
|
rs1603634206
|
|
NM_004006.3(DMD):c.3059C>G (p.Ser1020Ter)
|
rs398123919
|
|
NM_004006.3(DMD):c.3076G>T (p.Glu1026Ter)
|
rs398123920
|
|
NM_004006.3(DMD):c.31+1del
|
rs1603419074
|
|
NM_004006.3(DMD):c.31+5G>A
|
rs1403865104
|
|
NM_004006.3(DMD):c.31+7A>G
|
rs2148863971
|
|
NM_004006.3(DMD):c.3110_3111del (p.Val1037fs)
|
rs1603634203
|
|
NM_004006.3(DMD):c.3157dup (p.Ile1053fs)
|
rs1603634199
|
|
NM_004006.3(DMD):c.3162+1G>A
|
rs1335666832
|
|
NM_004006.3(DMD):c.3193del (p.Ala1065fs)
|
rs1603634105
|
|
NM_004006.3(DMD):c.3257del (p.Lys1086fs)
|
rs1569563740
|
|
NM_004006.3(DMD):c.3257dup (p.Gln1087fs)
|
rs1569563740
|
|
NM_004006.3(DMD):c.3295_3296del (p.Gln1099fs)
|
rs1603634079
|
|
NM_004006.3(DMD):c.332T>A (p.Ile111Asn)
|
rs1603441549
|
|
NM_004006.3(DMD):c.3388_3389dup (p.Leu1131fs)
|
rs1557369413
|
|
NM_004006.3(DMD):c.3460G>T (p.Gly1154Ter)
|
rs1603633868
|
|
NM_004006.3(DMD):c.3533_3536del (p.Glu1178fs)
|
rs1603633864
|
|
NM_004006.3(DMD):c.356del (p.Gln119fs)
|
rs1557058308
|
|
NM_004006.3(DMD):c.3603+1G>A
|
rs1209389771
|
|
NM_004006.3(DMD):c.3603+1G>T
|
rs1209389771
|
|
NM_004006.3(DMD):c.3603+2T>A
|
rs146071084
|
|
NM_004006.3(DMD):c.3603+2_3603+3insTA
|
rs1603633860
|
|
NM_004006.3(DMD):c.3603+2dup
|
rs796523999
|
|
NM_004006.3(DMD):c.3603G>A (p.Lys1201=)
|
rs1265370991
|
|
NM_004006.3(DMD):c.3639del (p.Lys1213_Val1214insTer)
|
rs398123943
|
|
NM_004006.3(DMD):c.3697C>T (p.Gln1233Ter)
|
rs1339088514
|
|
NM_004006.3(DMD):c.3713del (p.Lys1238fs)
|
rs1557362198
|
|
NM_004006.3(DMD):c.3787-2A>G
|
rs1474837238
|
|
NM_004006.3(DMD):c.3795G>A (p.Trp1265Ter)
|
rs1603633545
|
|
NM_004006.3(DMD):c.3843G>A (p.Trp1281Ter)
|
rs1603633541
|
|
NM_004006.3(DMD):c.394C>T (p.Gln132Ter)
|
rs2148807584
|
|
NM_004006.3(DMD):c.3969_3970insG (p.Arg1324fs)
|
rs2148194212
|
|
NM_004006.3(DMD):c.3980del (p.Ala1327fs)
|
rs1603633486
|
|
NM_004006.3(DMD):c.39del (p.Glu14fs)
|
rs1602766655
|
|
NM_004006.3(DMD):c.4052_4053insCC (p.Trp1351fs)
|
rs2148193225
|
|
NM_004006.3(DMD):c.4150G>T (p.Glu1384Ter)
|
rs2147935387
|
|
NM_004006.3(DMD):c.4172A>G (p.Lys1391Arg)
|
rs1603632892
|
|
NM_004006.3(DMD):c.4231C>T (p.Gln1411Ter)
|
rs1010666282
|
|
NM_004006.3(DMD):c.4294C>T (p.Gln1432Ter)
|
rs1603632326
|
|
NM_004006.3(DMD):c.4306_4309del (p.Ala1436fs)
|
rs1603632324
|
|
NM_004006.3(DMD):c.4314_4315del (p.Arg1439fs)
|
rs398123950
|
|
NM_004006.3(DMD):c.4315del (p.Arg1439fs)
|
rs398123950
|
|
NM_004006.3(DMD):c.4327C>T (p.Gln1443Ter)
|
rs1603632322
|
|
NM_004006.3(DMD):c.433C>T (p.Arg145Ter)
|
rs128626235
|
|
NM_004006.3(DMD):c.4350dup (p.Leu1451fs)
|
rs772220893
|
|
NM_004006.3(DMD):c.4352T>G (p.Leu1451Ter)
|
rs1603632316
|
|
NM_004006.3(DMD):c.4388_4394dup (p.Asn1466fs)
|
rs2147613101
|
|
NM_004006.3(DMD):c.4414C>T (p.Gln1472Ter)
|
rs128626248
|
|
NM_004006.3(DMD):c.4423A>T (p.Lys1475Ter)
|
rs1603632314
|
|
NM_004006.3(DMD):c.4438G>T (p.Glu1480Ter)
|
rs1603632311
|
|
NM_004006.3(DMD):c.444del (p.Arg149fs)
|
rs1603437272
|
|
NM_004006.3(DMD):c.4477_4493del (p.Val1493fs)
|
rs1603632309
|
|
NM_004006.3(DMD):c.4536_4540del (p.Val1515_Lys1516insTer)
|
rs1603632248
|
|
NM_004006.3(DMD):c.453T>G (p.Tyr151Ter)
|
rs1603437254
|
|
NM_004006.3(DMD):c.4591C>T (p.Gln1531Ter)
|
rs1557320194
|
|
NM_004006.3(DMD):c.464A>G (p.Asn155Ser)
|
rs2148806581
|
|
NM_004006.3(DMD):c.4660G>T (p.Glu1554Ter)
|
rs1216000876
|
|
NM_004006.3(DMD):c.4684A>T (p.Arg1562Ter)
|
rs771425504
|
|
NM_004006.3(DMD):c.4686_4689del (p.Arg1562fs)
|
rs1603632119
|
|
NM_004006.3(DMD):c.4693C>T (p.Gln1565Ter)
|
rs1603632117
|
|
NM_004006.3(DMD):c.4723A>T (p.Lys1575Ter)
|
rs2147472174
|
|
NM_004006.3(DMD):c.474C>A (p.Asn158Lys)
|
rs1324314201
|
|
NM_004006.3(DMD):c.4786A>T (p.Lys1596Ter)
|
rs2147470742
|
|
NM_004006.3(DMD):c.4786_4787del (p.Lys1596fs)
|
rs1569560475
|
|
NM_004006.3(DMD):c.479CCA[1] (p.Thr161del)
|
rs1569528101
|
|
NM_004006.3(DMD):c.4860_4861del (p.Glu1620fs)
|
rs1603631756
|
|
NM_004006.3(DMD):c.4872_4873del (p.Lys1625fs)
|
rs2147261153
|
|
NM_004006.3(DMD):c.4980G>A (p.Trp1660Ter)
|
rs1603631752
|
|
NM_004006.3(DMD):c.4996C>T (p.Arg1666Ter)
|
rs398123973
|
|
NM_004006.3(DMD):c.5026-2A>G
|
rs1569559849
|
|
NM_004006.3(DMD):c.5056C>T (p.Gln1686Ter)
|
rs1603631744
|
|
NM_004006.3(DMD):c.5078del (p.Lys1693fs)
|
rs2147253701
|
|
NM_004006.3(DMD):c.5131del (p.Gln1711fs)
|
rs2147252708
|
|
NM_004006.3(DMD):c.5167G>T (p.Glu1723Ter)
|
rs1603631705
|
|
NM_004006.3(DMD):c.5255T>G (p.Leu1752Ter)
|
rs373428963
|
|
NM_004006.3(DMD):c.531-10T>A
|
rs747522183
|
|
NM_004006.3(DMD):c.531-1G>C
|
rs1569526579
|
|
NM_004006.3(DMD):c.5326-11_5326-7dup
|
rs398123988
|
|
NM_004006.3(DMD):c.5358del (p.Phe1786fs)
|
rs1603631368
|
|
NM_004006.3(DMD):c.5371C>T (p.Gln1791Ter)
|
rs1569559204
|
|
NM_004006.3(DMD):c.5376del (p.Lys1792fs)
|
rs1603631367
|
|
NM_004006.3(DMD):c.53del (p.Lys18fs)
|
rs1602766531
|
|
NM_004006.3(DMD):c.5526_5529del (p.Arg1842fs)
|
rs2147031776
|
|
NM_004006.3(DMD):c.5563C>T (p.Gln1855Ter)
|
rs1569559097
|
|
NM_004006.3(DMD):c.5636G>A (p.Trp1879Ter)
|
rs1603631244
|
|
NM_004006.3(DMD):c.5689G>T (p.Glu1897Ter)
|
rs1603631240
|
|
NM_004006.3(DMD):c.5689dup (p.Glu1897fs)
|
rs1603631241
|
|
NM_004006.3(DMD):c.5693A>G (p.Lys1898Arg)
|
rs794727662
|
|
NM_004006.3(DMD):c.5697dup (p.Leu1900fs)
|
rs794727661
|
|
NM_004006.3(DMD):c.572C>A (p.Ser191Ter)
|
rs794727863
|
|
NM_004006.3(DMD):c.5740-1G>T
|
rs2148813707
|
|
NM_004006.3(DMD):c.574_577del (p.Ala192fs)
|
rs2148751467
|
|
NM_004006.3(DMD):c.5821dup (p.Ala1941fs)
|
rs1603631225
|
|
NM_004006.3(DMD):c.589G>T (p.Glu197Ter)
|
rs1340365803
|
|
NM_004006.3(DMD):c.58del (p.Thr20fs)
|
rs1602766499
|
|
NM_004006.3(DMD):c.6000T>A (p.Tyr2000Ter)
|
rs398124002
|
|
NM_004006.3(DMD):c.6023C>G (p.Ser2008Ter)
|
rs1603630431
|
|
NM_004006.3(DMD):c.6151del (p.Arg2051fs)
|
rs1603629988
|
|
NM_004006.3(DMD):c.6286C>T (p.Gln2096Ter)
|
rs2148456401
|
|
NM_004006.3(DMD):c.6300del (p.Asp2100fs)
|
rs1603628487
|
|
NM_004006.3(DMD):c.633dup (p.Leu212fs)
|
rs2148750700
|
|
NM_004006.3(DMD):c.6356G>A (p.Trp2119Ter)
|
rs1603628485
|
|
NM_004006.3(DMD):c.6357G>A (p.Trp2119Ter)
|
rs1603628483
|
|
NM_004006.3(DMD):c.635_636dup (p.Leu213fs)
|
rs1603432059
|
|
NM_004006.3(DMD):c.6364_6365del (p.Glu2122fs)
|
rs1603628482
|
|
NM_004006.3(DMD):c.6407G>A (p.Trp2136Ter)
|
rs1603628479
|
|
NM_004006.3(DMD):c.6452_6459dup (p.Gln2154fs)
|
rs2150188102
|
|
NM_004006.3(DMD):c.6514C>T (p.Gln2172Ter)
|
rs2150187643
|
|
NM_004006.3(DMD):c.6610_6611del (p.Lys2204fs)
|
rs863225007
|
|
NM_004006.3(DMD):c.666T>G (p.Tyr222Ter)
|
rs1603151699
|
|
NM_004006.3(DMD):c.6754C>T (p.Gln2252Ter)
|
rs1603615883
|
|
NM_004006.3(DMD):c.6760A>T (p.Lys2254Ter)
|
rs201818335
|
|
NM_004006.3(DMD):c.6814G>T (p.Glu2272Ter)
|
rs1557010214
|
|
NM_004006.3(DMD):c.6913-1G>T
|
rs1603514271
|
|
NM_004006.3(DMD):c.6913-2A>T
|
rs1603514272
|
|
NM_004006.3(DMD):c.693C>G (p.Tyr231Ter)
|
rs374222301
|
|
NM_004006.3(DMD):c.6973C>T (p.Gln2325Ter)
|
rs781054741
|
|
NM_004006.3(DMD):c.7010T>G (p.Leu2337Ter)
|
rs2149680248
|
|
NM_004006.3(DMD):c.7027del (p.Trp2343fs)
|
rs1603513828
|
|
NM_004006.3(DMD):c.7028G>A (p.Trp2343Ter)
|
rs1603513817
|
|
NM_004006.3(DMD):c.7029G>A (p.Trp2343Ter)
|
rs1603513803
|
|
NM_004006.3(DMD):c.7068del (p.Gln2356fs)
|
rs1603513680
|
|
NM_004006.3(DMD):c.7098+1G>A
|
rs1556962223
|
|
NM_004006.3(DMD):c.709C>T (p.Gln237Ter)
|
rs2147605826
|
|
NM_004006.3(DMD):c.709del (p.Gln237fs)
|
rs1603150993
|
|
NM_004006.3(DMD):c.7309+1G>C
|
rs398124044
|
|
NM_004006.3(DMD):c.7309+1G>T
|
rs398124044
|
|
NM_004006.3(DMD):c.7309+4del
|
rs2149424269
|
|
NM_004006.3(DMD):c.732_733insCAAT (p.Ile245fs)
|
rs2147605245
|
|
NM_004006.3(DMD):c.7564C>T (p.Gln2522Ter)
|
rs1603452207
|
|
NM_004006.3(DMD):c.7660+1G>C
|
rs1556852444
|
|
NM_004006.3(DMD):c.7661-2A>C
|
rs1556806356
|
|
NM_004006.3(DMD):c.7661-6T>G
|
rs2148734428
|
|
NM_004006.3(DMD):c.7705C>T (p.Gln2569Ter)
|
rs1603445344
|
|
NM_004006.3(DMD):c.7717C>T (p.Gln2573Ter)
|
rs1603445332
|
|
NM_004006.3(DMD):c.774dup (p.Lys259Ter)
|
rs1603150335
|
|
NM_004006.3(DMD):c.7750C>T (p.Gln2584Ter)
|
rs2148733515
|
|
NM_004006.3(DMD):c.7858dup (p.Ile2620fs)
|
rs1603445283
|
|
NM_004006.3(DMD):c.7872+1G>A
|
rs1603445278
|
|
NM_004006.3(DMD):c.7872+2T>A
|
rs1603445277
|
|
NM_004006.3(DMD):c.799C>T (p.Gln267Ter)
|
rs878854383
|
|
NM_004006.3(DMD):c.8027+1G>A
|
rs1556789913
|
|
NM_004006.3(DMD):c.8027+1G>T
|
rs1556789913
|
|
NM_004006.3(DMD):c.8028-1G>A
|
rs2148423696
|
|
NM_004006.3(DMD):c.8145dup (p.Gln2716fs)
|
rs1603430181
|
|
NM_004006.3(DMD):c.8146C>T (p.Gln2716Ter)
|
rs1603430178
|
|
NM_004006.3(DMD):c.8206A>T (p.Lys2736Ter)
|
rs2148421809
|
|
NM_004006.3(DMD):c.822T>A (p.Tyr274Ter)
|
rs1603149954
|
|
NM_004006.3(DMD):c.8278C>T (p.Gln2760Ter)
|
rs1603280796
|
|
NM_004006.3(DMD):c.8299G>T (p.Glu2767Ter)
|
rs1603280745
|
|
NM_004006.3(DMD):c.8313_8316dup (p.Val2773fs)
|
rs2147176325
|
|
NM_004006.3(DMD):c.8326del (p.Gln2776fs)
|
rs1603280686
|
|
NM_004006.3(DMD):c.8391-1G>A
|
rs1603264731
|
|
NM_004006.3(DMD):c.839del (p.Val280fs)
|
rs1603137168
|
|
NM_004006.3(DMD):c.8417del (p.Gln2806fs)
|
rs1603264705
|
|
NM_004006.3(DMD):c.8446G>T (p.Glu2816Ter)
|
rs2147075923
|
|
NM_004006.3(DMD):c.8451del (p.Leu2818fs)
|
rs1603264659
|
|
NM_004006.3(DMD):c.8460G>A (p.Trp2820Ter)
|
rs1603264641
|
|
NM_004006.3(DMD):c.8569del (p.Thr2857fs)
|
rs1603226023
|
|
NM_004006.3(DMD):c.857dup (p.Tyr286Ter)
|
rs1556929259
|
|
NM_004006.3(DMD):c.8668+138G>A
|
rs1603225135
|
|
NM_004006.3(DMD):c.8669-2A>T
|
rs794727770
|
|
NM_004006.3(DMD):c.8707C>T (p.Leu2903Phe)
|
rs1040153805
|
|
NM_004006.3(DMD):c.8731del (p.Val2911fs)
|
rs1603223025
|
|
NM_004006.3(DMD):c.8744G>A (p.Trp2915Ter)
|
rs1603222922
|
|
NM_004006.3(DMD):c.8746del (p.Glu2916fs)
|
rs1603222897
|
|
NM_004006.3(DMD):c.875C>G (p.Pro292Arg)
|
rs915965687
|
|
NM_004006.3(DMD):c.8797del (p.Glu2934fs)
|
rs1603222574
|
|
NM_004006.3(DMD):c.8817del (p.Gln2940fs)
|
rs1603222424
|
|
NM_004006.3(DMD):c.8923del (p.Leu2975fs)
|
rs1603221854
|
|
NM_004006.3(DMD):c.8937+1G>C
|
rs1556656077
|
|
NM_004006.3(DMD):c.9022C>T (p.Gln3008Ter)
|
rs1602937974
|
|
NM_004006.3(DMD):c.9085_9086insA (p.Val3029fs)
|
rs1602056443
|
|
NM_004006.3(DMD):c.9109C>T (p.Gln3037Ter)
|
rs2148492200
|
|
NM_004006.3(DMD):c.9189_9190del (p.Arg3063fs)
|
rs1601864055
|
|
NM_004006.3(DMD):c.9194_9201del (p.Ile3065fs)
|
rs2148296981
|
|
NM_004006.3(DMD):c.9225-285A>G
|
rs587776747
|
|
NM_004006.3(DMD):c.9249G>A (p.Trp3083Ter)
|
rs2147649257
|
|
NM_004006.3(DMD):c.9269_9270del (p.Glu3090fs)
|
rs1603253563
|
|
NM_004006.3(DMD):c.9281_9286+2del
|
rs2147648412
|
|
NM_004006.3(DMD):c.9283_9284del (p.Leu3095fs)
|
rs2147648529
|
|
NM_004006.3(DMD):c.9287-1G>A
|
rs2147071925
|
|
NM_004006.3(DMD):c.93+1G>T
|
rs886042604
|
|
NM_004006.3(DMD):c.9344del (p.Leu3115fs)
|
rs1602947628
|
|
NM_004006.3(DMD):c.9362-1G>C
|
rs2148593122
|
|
NM_004006.3(DMD):c.9380C>A (p.Ser3127Ter)
|
rs1602730254
|
|
NM_004006.3(DMD):c.93_93+14del
|
rs1602765633
|
|
NM_004006.3(DMD):c.94-1G>T
|
rs863225016
|
|
NM_004006.3(DMD):c.94-2A>T
|
rs1603448428
|
|
NM_004006.3(DMD):c.9433A>G (p.Met3145Val)
|
rs775080631
|
|
NM_004006.3(DMD):c.9487C>T (p.Gln3163Ter)
|
rs2148591514
|
|
NM_004006.3(DMD):c.9563+1G>A
|
rs886043989
|
|
NM_004006.3(DMD):c.9563+1G>T
|
rs886043989
|
|
NM_004006.3(DMD):c.9564-2A>G
|
rs1602696519
|
|
NM_004006.3(DMD):c.9564-536A>C
|
rs918777788
|
|
NM_004006.3(DMD):c.961-1G>A
|
rs1602469384
|
|
NM_004006.3(DMD):c.961-5831C>T
|
rs398124099
|
|
NM_004006.3(DMD):c.9638_9642del (p.Asp3213fs)
|
rs2148564018
|
|
NM_004006.3(DMD):c.9647_9648del (p.Arg3216fs)
|
rs2148563899
|
|
NM_004006.3(DMD):c.9649+2dup
|
rs1602695597
|
|
NM_004006.3(DMD):c.9649+5G>C
|
rs1602695527
|
|
NM_004006.3(DMD):c.971del (p.Ala324fs)
|
rs1602469251
|
|
NM_004006.3(DMD):c.9730del (p.Ile3244fs)
|
rs1602669026
|
|
NM_004006.3(DMD):c.9748G>A (p.Glu3250Lys)
|
rs1602668870
|
|
NM_004006.3(DMD):c.9767del (p.Gly3256fs)
|
rs398124103
|
|
NM_004006.3(DMD):c.9808-2A>G
|
rs1602456486
|
|
NM_004006.3(DMD):c.9808-2A>T
|
rs1602456486
|
|
NM_004006.3(DMD):c.9853dup (p.Met3285fs)
|
rs2148335170
|
|
NM_004006.3(DMD):c.9868del (p.Gln3290fs)
|
rs1602455747
|
|
NM_004006.3(DMD):c.9887_9908del (p.Pro3296fs)
|
rs1602455302
|
|
NM_004006.3(DMD):c.9906del (p.Ala3303fs)
|
rs2148334397
|
|
NM_004006.3(DMD):c.9950_9951del (p.Lys3317fs)
|
rs1602454747
|
|
NM_004006.3(DMD):c.9959C>T (p.Pro3320Leu)
|
rs1602454639
|
|
NM_004006.3(DMD):c.9971dup (p.Arg3325fs)
|
rs1602454605
|
|
NM_004006.3(DMD):c.9974+2T>C
|
rs2148333619
|
|
NM_004006.3(DMD):c.998C>A (p.Ser333Ter)
|
rs1602468968
|
|
NM_004035.7(ACOX1):c.280C>T (p.Arg94Ter)
|
rs780675610
|
|
NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser)
|
rs1567876984
|
|
NM_004048.4(B2M):c.286G>A (p.Asp96Asn)
|
rs398122820
|
|
NM_004064.5(CDKN1B):c.*163T>G
|
rs1592282711
|
|
NM_004064.5(CDKN1B):c.-31AG[1]
|
rs774454456
|
|
NM_004064.5(CDKN1B):c.476-5C>G
|
rs370509436
|
|
NM_004085.4(TIMM8A):c.127T>C (p.Cys43Arg)
|
rs1602996815
|
|
NM_004085.4(TIMM8A):c.181del (p.Ala61fs)
|
rs2147416123
|
|
NM_004092.4(ECHS1):c.123_124del (p.Gly42fs)
|
rs746519257
|
|
NM_004092.4(ECHS1):c.1A>T (p.Met1Leu)
|
rs753557738
|
|
NM_004092.4(ECHS1):c.250G>A (p.Ala84Thr)
|
rs2133443188
|
|
NM_004092.4(ECHS1):c.457T>A (p.Tyr153Asn)
|
rs2133441975
|
|
NM_004092.4(ECHS1):c.563C>T (p.Ala188Val)
|
rs1164154836
|
|
NM_004092.4(ECHS1):c.637T>C (p.Cys213Arg)
|
rs1589880497
|
|
NM_004168.4(SDHA):c.1549A>G (p.Lys517Glu)
|
rs786205210
|
|
NM_004168.4(SDHA):c.622-7C>T
|
rs759371428
|
|
NM_004171.4(SLC1A2):c.1092-6T>C
|
rs2134719255
|
|
NM_004172.5(SLC1A3):c.664G>T (p.Glu222Ter)
|
rs1382977672
|
|
NM_004172.5(SLC1A3):c.745T>G (p.Phe249Val)
|
rs547834086
|
|
NM_004183.4(BEST1):c.172C>G (p.Gln58Glu)
|
rs1591280478
|
|
NM_004183.4(BEST1):c.737G>A (p.Ser246Asn)
|
rs2134444981
|
|
NM_004187.5(KDM5C):c.807del (p.Thr270fs)
|
rs1569278313
|
|
NM_004187.5(KDM5C):c.80C>T (p.Pro27Leu)
|
rs2146978491
|
|
NM_004187.5(KDM5C):c.994C>T (p.Arg332Ter)
|
rs2146934865
|
|
NM_004187.5(KDM5C):c.997G>C (p.Gly333Arg)
|
rs2146934832
|
|
NM_004208.4(AIFM1):c.1241T>C (p.Ile414Thr)
|
rs1603222490
|
|
NM_004211.5(SLC6A5):c.1486AAC[1] (p.Asn497del)
|
rs2133800193
|
|
NM_004247.4(EFTUD2):c.882del (p.Asp295fs)
|
rs1597807512
|
|
NM_004260.4(RECQL4):c.2518del (p.Leu840fs)
|
rs2130673117
|
|
NM_004273.5(CHST3):c.141-1G>C
|
rs2131773933
|
|
NM_004304.5(ALK):c.2073C>G (p.Ser691Arg)
|
rs370435082
|
|
NM_004304.5(ALK):c.4487G>A (p.Arg1496Lys)
|
rs2148138148
|
|
NM_004316.4(ASCL1):c.121G>T (p.Ala41Ser)
|
rs545982257
|
|
NM_004316.4(ASCL1):c.151CAG[10] (p.Gln61_Gln62del)
|
rs3832799
|
|
NM_004329.3(BMPR1A):c.541A>G (p.Lys181Glu)
|
rs2133543692
|
|
NM_004329.3(BMPR1A):c.583C>T (p.Gln195Ter)
|
rs771910503
|
|
NM_004333.6(BRAF):c.1310G>A (p.Arg437Gln)
|
rs998233805
|
|
NM_004333.6(BRAF):c.1591T>C (p.Trp531Arg)
|
rs2129018408
|
|
NM_004333.6(BRAF):c.1750C>T (p.Leu584Phe)
|
rs1586015221
|
|
NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu)
|
rs794729219
|
|
NM_004333.6(BRAF):c.2128-28dup
|
rs60814637
|
|
NM_004333.6(BRAF):c.2134G>A (p.Ala712Thr)
|
rs1481562268
|
|
NM_004333.6(BRAF):c.2276G>A (p.Gly759Glu)
|
rs1585930903
|
|
NM_004333.6(BRAF):c.644C>T (p.Ser215Phe)
|
rs1586237312
|
|
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)
|
rs180177035
|
|
NM_004333.6(BRAF):c.779G>A (p.Arg260His)
|
rs1586213318
|
|
NM_004341.5(CAD):c.571C>T (p.Arg191Ter)
|
rs1572423883
|
|
NM_004360.5(CDH1):c.*179G>T
|
rs1596977076
|
|
NM_004360.5(CDH1):c.*780del
|
rs968192426
|
|
NM_004360.5(CDH1):c.-57C>T
|
rs981792194
|
|
NM_004360.5(CDH1):c.1008+8G>T
|
rs990193541
|
|
NM_004360.5(CDH1):c.1009-1G>C
|
rs1597894632
|
|
NM_004360.5(CDH1):c.1264C>A (p.Gln422Lys)
|
rs2152133566
|
|
NM_004360.5(CDH1):c.1416C>T (p.Thr472=)
|
rs139937234
|
|
NM_004360.5(CDH1):c.1468G>A (p.Glu490Lys)
|
rs1555516147
|
|
NM_004360.5(CDH1):c.1721T>G (p.Val574Gly)
|
rs1567512117
|
|
NM_004360.5(CDH1):c.1784C>G (p.Pro595Arg)
|
rs1555516843
|
|
NM_004360.5(CDH1):c.1937-4C>T
|
rs1057523153
|
|
NM_004360.5(CDH1):c.1A>G (p.Met1Val)
|
rs1555509622
|
|
NM_004360.5(CDH1):c.2098C>G (p.Pro700Ala)
|
rs878854681
|
|
NM_004360.5(CDH1):c.2137_2146dup (p.Gly716fs)
|
rs2152139643
|
|
NM_004360.5(CDH1):c.2204C>A (p.Ala735Glu)
|
rs587782464
|
|
NM_004360.5(CDH1):c.2293C>T (p.Gln765Ter)
|
rs876658575
|
|
NM_004360.5(CDH1):c.2439+1G>T
|
rs1567516230
|
|
NM_004360.5(CDH1):c.2467A>G (p.Thr823Ala)
|
rs878854686
|
|
NM_004360.5(CDH1):c.2518T>C (p.Ser840Pro)
|
rs1555518243
|
|
NM_004360.5(CDH1):c.2560G>A (p.Asp854Asn)
|
rs1555518257
|
|
NM_004360.5(CDH1):c.29C>A (p.Ala10Glu)
|
rs1375360857
|
|
NM_004360.5(CDH1):c.32T>G (p.Leu11Arg)
|
rs1393903966
|
|
NM_004360.5(CDH1):c.32TGC[4] (p.Leu15del)
|
rs587782476
|
|
NM_004360.5(CDH1):c.417G>C (p.Leu139Phe)
|
rs1057521858
|
|
NM_004360.5(CDH1):c.48+1G>A
|
rs1440280370
|
|
NM_004360.5(CDH1):c.687+56del
|
rs771109236
|
|
NM_004360.5(CDH1):c.778C>T (p.Pro260Ser)
|
rs1567505715
|
|
NM_004360.5(CDH1):c.820G>A (p.Gly274Ser)
|
rs781513008
|
|
NM_004360.5(CDH1):c.949T>C (p.Phe317Leu)
|
rs1555515643
|
|
NM_004360.5(CDH1):c.976A>G (p.Ile326Val)
|
rs1567506764
|
|
NM_004364.5(CEBPA):c.31C>A (p.Pro11Thr)
|
rs1555742325
|
|
NM_004369.3(COL6A3):c.[6064-5G>A];[6859delC]
|
|
|
NM_004369.4(COL6A3):c.1393C>T (p.Arg465Ter)
|
rs121434554
|
|
NM_004369.4(COL6A3):c.6215_6225del (p.Glu2072fs)
|
rs1574976615
|
|
NM_004369.4(COL6A3):c.6309G>C (p.Lys2103Asn)
|
rs1574975196
|
|
NM_004371.4(COPA):c.3171C>A (p.Cys1057Ter)
|
rs2101820512
|
|
NM_004380.3(CREBBP):c.1574-4A>T
|
rs2141248432
|
|
NM_004380.3(CREBBP):c.1694del (p.Gly565fs)
|
rs1596916327
|
|
NM_004380.3(CREBBP):c.2383_2400dup (p.Pro795_Pro800dup)
|
rs1596895167
|
|
NM_004380.3(CREBBP):c.283G>A (p.Val95Met)
|
rs756802946
|
|
NM_004380.3(CREBBP):c.3982+3A>T
|
rs1596823180
|
|
NM_004380.3(CREBBP):c.5169C>G (p.Cys1723Trp)
|
rs146718571
|
|
NM_004380.3(CREBBP):c.5555_5575del (p.Gln1852_Arg1858del)
|
rs2151309803
|
|
NM_004380.3(CREBBP):c.712G>C (p.Val238Leu)
|
rs146887252
|
|
NM_004385.5(VCAN):c.9265+1G>T
|
rs80356553
|
|
NM_004397.6(DDX6):c.1031C>G (p.Ser344Cys)
|
rs2137424033
|
|
NM_004403.3(GSDME):c.781C>T (p.Arg261Ter)
|
rs200205042
|
|
NM_004408.4(DNM1):c.112G>A (p.Gly38Ser)
|
rs1131692025
|
|
NM_004408.4(DNM1):c.1867_1873del (p.Ala623fs)
|
rs2131287870
|
|
NM_004408.4(DNM1):c.985C>G (p.Leu329Val)
|
rs868772525
|
|
NM_004415.4(DSP):c.1234C>T (p.Gln412Ter)
|
rs1758912749
|
|
NM_004415.4(DSP):c.3891_3894dup (p.Met1299fs)
|
rs1581816570
|
|
NM_004429.5(EFNB1):c.473T>G (p.Met158Arg)
|
rs2147976769
|
|
NM_004453.4(ETFDH):c.1082A>G (p.Tyr361Cys)
|
rs2150312299
|
|
NM_004453.4(ETFDH):c.1106G>C (p.Gly369Ala)
|
rs754418186
|
|
NM_004453.4(ETFDH):c.1388G>A (p.Gly463Asp)
|
rs1561251388
|
|
NM_004453.4(ETFDH):c.1547T>C (p.Phe516Ser)
|
rs1580423432
|
|
NM_004453.4(ETFDH):c.1648_1649del (p.Leu550fs)
|
rs1469053638
|
|
NM_004453.4(ETFDH):c.463A>G (p.Arg155Gly)
|
rs549150456
|
|
NM_004453.4(ETFDH):c.684+2T>G
|
rs1580406119
|
|
NM_004461.3(FARSA):c.812G>A (p.Arg271His)
|
rs375272364
|
|
NM_004463.3(FGD1):c.1452G>A (p.Trp484Ter)
|
rs1601953661
|
|
NM_004463.3(FGD1):c.1843-1G>A
|
rs1601950553
|
|
NM_004463.3(FGD1):c.386G>A (p.Gly129Asp)
|
rs910374883
|
|
NM_004463.3(FGD1):c.437A>G (p.Gln146Arg)
|
rs1029761293
|
|
NM_004484.4(GPC3):c.338-5del
|
rs370737647
|
|
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser)
|
rs74582884
|
|
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)
|
rs796052676
|
|
NM_004519.4(KCNQ3):c.977C>A (p.Thr326Lys)
|
rs1326172406
|
|
NM_004522.3(KIF5C):c.709G>A (p.Glu237Lys)
|
rs587777570
|
|
NM_004523.4(KIF11):c.1435G>C (p.Glu479Gln)
|
rs547554309
|
|
NM_004523.4(KIF11):c.2782C>T (p.Gln928Ter)
|
rs1589608594
|
|
NM_004530.6(MMP2):c.691G>T (p.Glu231Ter)
|
rs1168427805
|
|
NM_004563.4(PCK2):c.460_461insCTGTGGATGAGAG (p.Gly154fs)
|
rs771187723
|
|
NM_004577.4(PSPH):c.81A>T (p.Arg27Ser)
|
rs74445297
|
|
NM_004577.4(PSPH):c.95A>G (p.Asp32Gly)
|
rs78599516
|
|
NM_004586.3(RPS6KA3):c.1740del (p.Cys579_Tyr580insTer)
|
rs2148643497
|
|
NM_004586.3(RPS6KA3):c.243+1G>A
|
rs1603428228
|
|
NM_004586.3(RPS6KA3):c.748G>A (p.Asp250Asn)
|
rs1603425338
|
|
NM_004606.5(TAF1):c.1207T>G (p.Phe403Val)
|
rs2033670961
|
|
NM_004606.5(TAF1):c.1312C>T (p.Leu438Phe)
|
rs2148243773
|
|
NM_004614.5(TK2):c.414C>A (p.Ser138Arg)
|
rs773566302
|
|
NM_004614.5(TK2):c.557C>G (p.Pro186Arg)
|
|
|
NM_004614.5(TK2):c.692C>T (p.Pro231Leu)
|
rs2144339570
|
|
NM_004628.5(XPC):c.2348C>T (p.Ala783Val)
|
|
|
NM_004628.5(XPC):c.90GGA[4] (p.Glu34del)
|
rs750450365
|
|
NM_004629.2(FANCG):c.770G>A (p.Arg257His)
|
rs372234656
|
|
NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup)
|
rs193922941
|
|
NM_004643.3(PABPN1):c.3GGC[11] (p.Ala11_Gly12insAlaAlaAlaAla)
|
rs193922941
|
|
NM_004643.4(PABPN1):c.15_26dup (p.Ala8_Ala11dup)
|
rs1594987281
|
|
NM_004646.4(NPHS1):c.2126T>G (p.Val709Gly)
|
rs386833902
|
|
NM_004646.4(NPHS1):c.3286+1G>A
|
rs1599835856
|
|
NM_004646.4(NPHS1):c.515_517del (p.Thr172del)
|
rs386833947
|
|
NM_004655.4(AXIN2):c.727C>G (p.Leu243Val)
|
rs1060502152
|
|
NM_004655.4(AXIN2):c.750G>T (p.Leu250Phe)
|
rs1060502149
|
|
NM_004656.4(BAP1):c.1321C>T (p.Gln441Ter)
|
rs1559587104
|
|
NM_004656.4(BAP1):c.1651C>G (p.Arg551Gly)
|
rs755664216
|
|
NM_004656.4(BAP1):c.2149C>T (p.Arg717Trp)
|
rs1451498951
|
|
NM_004656.4(BAP1):c.2162C>G (p.Ser721Cys)
|
rs1553644521
|
|
NM_004697.4(PRPF4):c.-114_-97del
|
rs541873609
|
|
NM_004698.4(PRPF3):c.-48-2A>T
|
rs782747350
|
|
NM_004700.4(KCNQ4):c.140T>C (p.Leu47Pro)
|
rs1271250198
|
|
NM_004715.5(CTDP1):c.2418-207_2418-165dup
|
rs147933855
|
|
NM_004738.5(VAPB):c.166C>T (p.Pro56Ser)
|
rs74315431
|
|
NM_004744.5(LRAT):c.298G>A (p.Gly100Ser)
|
rs1035206645
|
|
NM_004744.5(LRAT):c.346T>C (p.Phe116Leu)
|
rs1578860322
|
|
NM_004761.5(RGL2):c.608dup (p.Ser204fs)
|
rs762949421
|
|
NM_004795.4(KL):c.2702-59dup
|
rs34137141
|
|
NM_004807.3(HS6ST1):c.1112G>A (p.Arg371His)
|
rs147436494
|
|
NM_004807.3(HS6ST1):c.261C>A (p.Asp87Glu)
|
rs200979099
|
|
NM_004807.3(HS6ST1):c.745C>A (p.Arg249Ser)
|
rs3958533
|
|
NM_004822.3(NTN1):c.486C>G (p.Tyr162Ter)
|
rs1451966463
|
|
NM_004826.4(ECEL1):c.557C>G (p.Ser186Trp)
|
rs1176131791
|
|
NM_004836.7(EIF2AK3):c.40CTG[7] (p.Leu21del)
|
rs1805190
|
|
NM_004859.4(CLTC):c.2023A>G (p.Ile675Val)
|
rs2143556646
|
|
NM_004859.4(CLTC):c.3386T>G (p.Ile1129Ser)
|
rs1443421262
|
|
NM_004859.4(CLTC):c.3765+1G>A
|
rs2143594831
|
|
NM_004859.4(CLTC):c.3765+3A>C
|
rs2143594841
|
|
NM_004863.4(SPTLC2):c.545C>T (p.Ala182Val)
|
rs2140039094
|
|
NM_004933.3(CDH15):c.1999_2004del (p.Tyr667_Asp668del)
|
rs749690403
|
|
NM_004933.3(CDH15):c.767A>T (p.Asn256Ile)
|
rs756845157
|
|
NM_004937.3(CTNS):c.382C>T (p.Gln128Ter)
|
rs550254092
|
|
NM_004946.3(DOCK2):c.1606A>G (p.Lys536Glu)
|
rs1581078478
|
|
NM_004946.3(DOCK2):c.169-72G>C
|
rs2306564
|
|
NM_004946.3(DOCK2):c.3484G>A (p.Ala1162Thr)
|
rs1581543762
|
|
NM_004947.5(DOCK3):c.162+5T>G
|
rs1316299898
|
|
NM_004958.4(MTOR):c.4298T>C (p.Leu1433Ser)
|
rs2100609915
|
|
NM_004960.4(FUS):c.1540A>T (p.Arg514Trp)
|
rs1555509609
|
|
NM_004960.4(FUS):c.1542-1G>T
|
rs1596914113
|
|
NM_004960.4(FUS):c.518_523del
|
|
|
NM_004963.4(GUCY2C):c.2155G>C (p.Glu719Gln)
|
rs895214647
|
|
NM_004963.4(GUCY2C):c.949-5T>G
|
rs1403237949
|
|
NM_004970.3(IGFALS):c.958C>T (p.Gln320Ter)
|
rs768231769
|
|
NM_004972.4(JAK2):c.3269G>A (p.Arg1090Lys)
|
rs780942191
|
|
NM_004973.4(JARID2):c.2731+5G>A
|
rs2127756209
|
|
NM_004974.4(KCNA2):c.1118C>T (p.Thr373Ile)
|
rs1553181282
|
|
NM_004974.4(KCNA2):c.1120A>G (p.Thr374Ala)
|
rs1553181280
|
|
NM_004974.4(KCNA2):c.409G>A (p.Glu137Lys)
|
rs2101402116
|
|
NM_004975.4(KCNB1):c.1220T>C (p.Leu407Pro)
|
rs2146813611
|
|
NM_004975.4(KCNB1):c.1303G>C (p.Ala435Pro)
|
rs2146813509
|
|
NM_004975.4(KCNB1):c.1747C>T (p.Arg583Ter)
|
rs781663444
|
|
NM_004975.4(KCNB1):c.2396G>A (p.Ser799Asn)
|
rs1256695300
|
|
NM_004975.4(KCNB1):c.595A>T (p.Ile199Phe)
|
rs1601072041
|
|
NM_004975.4(KCNB1):c.814C>T (p.Pro272Ser)
|
rs1601071747
|
|
NM_004975.4(KCNB1):c.877C>T (p.Arg293Cys)
|
rs1984264748
|
|
NM_004975.4(KCNB1):c.956C>T (p.Ser319Phe)
|
rs1984259606
|
|
NM_004977.3(KCNC3):c.1583T>G (p.Val528Gly)
|
rs1601098237
|
|
NM_004977.3(KCNC3):c.1737ACCCCCGCC[1] (p.Pro583_Pro585del)
|
rs747618525
|
|
NM_004984.4(KIF5A):c.1727T>A (p.Ile576Asn)
|
rs2140167372
|
|
NM_004990.4(MARS1):c.1148C>G (p.Thr383Ser)
|
rs1594821285
|
|
NM_004990.4(MARS1):c.1244G>T (p.Gly415Val)
|
rs1594821386
|
|
NM_004994.3(MMP9):c.1721G>C (p.Arg574Pro)
|
rs2250889
|
|
NM_004995.4(MMP14):c.542T>C (p.Phe181Ser)
|
rs1595014702
|
|
NM_004999.4(MYO6):c.2751dup (p.Gln918fs)
|
rs551348450
|
|
NM_005002.5(NDUFA9):c.224G>T (p.Arg75Leu)
|
rs35263902
|
|
NM_005006.7(NDUFS1):c.1393-7_1393-3del
|
rs1559047521
|
|
NM_005006.7(NDUFS1):c.154-126TAGA[8]
|
rs3217140
|
|
NM_005006.7(NDUFS1):c.154-126TAGA[9]
|
rs3217140
|
|
NM_005006.7(NDUFS1):c.518T>G (p.Met173Arg)
|
rs747249702
|
|
NM_005006.7(NDUFS1):c.689C>A (p.Ala230Asp)
|
rs1575984450
|
|
NM_005032.7(PLS3):c.514del (p.Leu172fs)
|
rs1603241972
|
|
NM_005052.3(RAC3):c.176C>G (p.Ala59Gly)
|
rs1379395211
|
|
NM_005094.4(SLC27A4):c.1065del (p.Arg356fs)
|
rs777972512
|
|
NM_005094.4(SLC27A4):c.1799_1800del (p.Glu600fs)
|
rs758657421
|
|
NM_005105.5(RBM8A):c.-19G>A
|
rs760383043
|
|
NM_005105.5(RBM8A):c.67+34G>C
|
rs1553756157
|
|
NM_005120.3(MED12):c.1248+3A>G
|
rs2147782173
|
|
NM_005120.3(MED12):c.224G>C (p.Ser75Thr)
|
rs867655376
|
|
NM_005120.3(MED12):c.4254-5T>A
|
rs2092319756
|
|
NM_005120.3(MED12):c.4416-77CTCTT[14]
|
rs56658066
|
|
NM_005120.3(MED12):c.5041A>G (p.Thr1681Ala)
|
rs2147825903
|
|
NM_005159.5(ACTC1):c.894C>G (p.Asn298Lys)
|
rs863225303
|
|
NM_005188.4(CBL):c.1222T>C (p.Trp408Arg)
|
rs755557498
|
|
NM_005188.4(CBL):c.1439G>A (p.Arg480Gln)
|
rs1949969239
|
|
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_005215.4(DCC):c.3703A>C (p.Met1235Leu)
|
rs1284447482
|
|
NM_005219.5(DIAPH1):c.3152C>T (p.Ser1051Phe)
|
rs868531732
|
|
NM_005219.5(DIAPH1):c.3157G>T (p.Glu1053Ter)
|
rs1003389476
|
|
NM_005219.5(DIAPH1):c.3706G>T (p.Glu1236Ter)
|
rs772429379
|
|
NM_005228.5(EGFR):c.-106G>A
|
rs895139219
|
|
NM_005228.5(EGFR):c.1230del (p.Trp410fs)
|
rs2128939635
|
|
NM_005228.5(EGFR):c.1472T>C (p.Ile491Thr)
|
rs1584190119
|
|
NM_005228.5(EGFR):c.1916A>C (p.Asn639Thr)
|
rs952307505
|
|
NM_005228.5(EGFR):c.1920-100A>G
|
rs1584221726
|
|
NM_005228.5(EGFR):c.1951G>A (p.Val651Met)
|
rs1562783502
|
|
NM_005228.5(EGFR):c.2407C>T (p.Arg803Trp)
|
rs1215679186
|
|
NM_005228.5(EGFR):c.2469+8G>A
|
rs760763801
|
|
NM_005228.5(EGFR):c.2485G>C (p.Glu829Gln)
|
rs1489158055
|
|
NM_005228.5(EGFR):c.2573T>G (p.Leu858Arg)
|
rs121434568
|
|
NM_005228.5(EGFR):c.2896A>G (p.Ile966Val)
|
rs1383485737
|
|
NM_005228.5(EGFR):c.2995C>T (p.Arg999Cys)
|
rs866928399
|
|
NM_005228.5(EGFR):c.3245T>G (p.Ile1082Arg)
|
rs1051476261
|
|
NM_005228.5(EGFR):c.3320A>G (p.Asn1107Ser)
|
rs918187279
|
|
NM_005228.5(EGFR):c.3403A>T (p.Asn1135Tyr)
|
rs2128975298
|
|
NM_005228.5(EGFR):c.3538_3541del (p.Glu1180fs)
|
rs781064539
|
|
NM_005228.5(EGFR):c.509G>A (p.Ser170Asn)
|
rs758945260
|
|
NM_005228.5(EGFR):c.551T>A (p.Leu184Gln)
|
rs921852102
|
|
NM_005228.5(EGFR):c.551T>C (p.Leu184Pro)
|
rs921852102
|
|
NM_005228.5(EGFR):c.797C>A (p.Pro266Gln)
|
rs17336639
|
|
NM_005235.3(ERBB4):c.2207T>A (p.Ile736Asn)
|
rs1574867228
|
|
NM_005236.3(ERCC4):c.1102+36dup
|
rs761458435
|
|
NM_005245.4(FAT1):c.3770G>A (p.Arg1257Gln)
|
rs188188069
|
|
NM_005247.4(FGF3):c.509G>A (p.Arg170His)
|
rs782801923
|
|
NM_005249.5(FOXG1):c.321GCCACC[1] (p.Pro111_Pro112del)
|
rs796052475
|
|
NM_005249.5(FOXG1):c.430G>A (p.Glu144Lys)
|
rs797045583
|
|
NM_005249.5(FOXG1):c.485dup (p.Gly163fs)
|
rs2138660968
|
|
NM_005249.5(FOXG1):c.688C>T (p.Arg230Cys)
|
rs1594383704
|
|
NM_005249.5(FOXG1):c.85del (p.Gln29fs)
|
rs1594382746
|
|
NM_005263.5(GFI1):c.-100+686C>A
|
rs1018517928
|
|
NM_005267.5(GJA8):c.718del (p.Pro239_Val240insTer)
|
rs2149016066
|
|
NM_005271.5(GLUD1):c.1496G>C (p.Gly499Ala)
|
rs121909734
|
|
NM_005321.3(H1-4):c.364_365del (p.Lys122fs)
|
rs768525914
|
|
NM_005321.3(H1-4):c.396dup (p.Gly133fs)
|
rs2113826875
|
|
NM_005321.3(H1-4):c.429_430del (p.Ala144fs)
|
rs1131690805
|
|
NM_005327.7(HADH):c.261+1G>A
|
rs1398546361
|
|
NM_005327.7(HADH):c.587del (p.Ser196fs)
|
rs745727504
|
|
NM_005327.7(HADH):c.636+2_636+3insCT
|
rs2126234552
|
|
NM_005336.6(HDLBP):c.3217G>A (p.Ala1073Thr)
|
rs2149342588
|
|
NM_005357.4(LIPE):c.3203_3221del (p.Val1068fs)
|
rs587777699
|
|
NM_005359.6(SMAD4):c.1409C>G (p.Pro470Arg)
|
rs1599204186
|
|
NM_005360.5(MAF):c.-30GGC[4]
|
rs5818251
|
|
NM_005373.3(MPL):c.1653+1del
|
rs755257605
|
|
NM_005378.6(MYCN):c.134dup (p.Glu47fs)
|
rs780080562
|
|
NM_005392.4(PHF2):c.325C>T (p.Pro109Ser)
|
rs1188481995
|
|
NM_005411.5(SFTPA1):c.637C>T (p.Arg213Ter)
|
rs369165505
|
|
NM_005413.4(SIX3):c.406_407del (p.Ala136fs)
|
rs753473749
|
|
NM_005422.4(TECTA):c.2264dup (p.Asn755fs)
|
rs1159210445
|
|
NM_005422.4(TECTA):c.3947G>C (p.Ser1316Thr)
|
rs1946831915
|
|
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_005430.4(WNT1):c.1026del (p.Glu343fs)
|
rs727505392
|
|
NM_005431.2(XRCC2):c.378_381del (p.Leu126fs)
|
rs763401560
|
|
NM_005431.2(XRCC2):c.574T>C (p.Phe192Leu)
|
rs1563026024
|
|
NM_005431.2(XRCC2):c.679C>G (p.Leu227Val)
|
rs1384417628
|
|
NM_005431.2(XRCC2):c.698A>T (p.Gln233Leu)
|
rs946075316
|
|
NM_005431.2(XRCC2):c.794T>C (p.Leu265Ser)
|
rs771671971
|
|
NM_005445.4(SMC3):c.1417T>C (p.Trp473Arg)
|
rs1861180567
|
|
NM_005445.4(SMC3):c.2044G>A (p.Val682Ile)
|
rs2134745322
|
|
NM_005445.4(SMC3):c.2215A>G (p.Met739Val)
|
rs1590567950
|
|
NM_005445.4(SMC3):c.932A>G (p.Asp311Gly)
|
rs1590556378
|
|
NM_005448.2(BMP15):c.13A>C (p.Ser5Arg)
|
rs113099187
|
|
NM_005448.2(BMP15):c.661T>C (p.Trp221Arg)
|
rs375284458
|
|
NM_005458.8(GABBR2):c.33GCC[5] (p.Pro20del)
|
rs751111546
|
|
NM_005461.5(MAFB):c.185C>T (p.Thr62Ile)
|
rs1600429262
|
|
NM_005465.7(AKT3):c.496C>T (p.Arg166Ter)
|
rs2147812279
|
|
NM_005475.3(SH2B3):c.112G>A (p.Ala38Thr)
|
rs2135547121
|
|
NM_005475.3(SH2B3):c.1493T>C (p.Leu498Pro)
|
|
|
NM_005475.3(SH2B3):c.230G>A (p.Arg77His)
|
rs1219220572
|
|
NM_005476.7(GNE):c.2086G>A (p.Val696Met)
|
rs121908627
|
|
NM_005476.7(GNE):c.800A>G (p.Lys267Arg)
|
rs2133068749
|
|
NM_005477.3(HCN4):c.2804C>T (p.Ser935Phe)
|
rs775803239
|
|
NM_005515.4(MNX1):c.562C>T (p.Gln188Ter)
|
rs2134846165
|
|
NM_005523.6(HOXA11):c.489G>C (p.Lys163Asn)
|
rs893792932
|
|
NM_005525.4(HSD11B1):c.331+53dup
|
rs45487298
|
|
NM_005529.7(HSPG2):c.1654+5G>A
|
rs1572356343
|
|
NM_005529.7(HSPG2):c.4145_4163del (p.Leu1382fs)
|
rs1572304438
|
|
NM_005529.7(HSPG2):c.9514-1G>A
|
rs2152704005
|
|
NM_005535.3(IL12RB1):c.1765del (p.Ala589fs)
|
rs1476855887
|
|
NM_005559.4(LAMA1):c.2274+70dup
|
rs113133818
|
|
NM_005562.3(LAMC2):c.1066+1del
|
rs2102228390
|
|
NM_005591.4(MRE11):c.1927-2A>G
|
rs587781822
|
|
NM_005609.4(PYGM):c.1732CTC[1] (p.Leu579del)
|
rs1592409633
|
|
NM_005609.4(PYGM):c.2075_2076del (p.Thr692fs)
|
rs1592408302
|
|
NM_005629.4(SLC6A8):c.1068C>T (p.Gly356=)
|
rs1603216989
|
|
NM_005629.4(SLC6A8):c.1396G>A (p.Gly466Arg)
|
rs1603217473
|
|
NM_005629.4(SLC6A8):c.980dup (p.Ser329fs)
|
rs2148362976
|
|
NM_005633.4(SOS1):c.1653_1655del (p.Arg552del)
|
rs1572830219
|
|
NM_005633.4(SOS1):c.1727G>T (p.Arg576Ile)
|
rs1553356023
|
|
NM_005633.4(SOS1):c.2207T>G (p.Ile736Arg)
|
rs1553354396
|
|
NM_005633.4(SOS1):c.416C>G (p.Ala139Gly)
|
rs1671229011
|
|
NM_005634.3(SOX3):c.14G>C (p.Arg5Pro)
|
rs112180170
|
|
NM_005639.3(SYT1):c.926C>T (p.Ser309Phe)
|
rs2136007588
|
|
NM_005647.4(TBL1X):c.1621C>T (p.His541Tyr)
|
rs887842671
|
|
NM_005654.6(NR2F1):c.1181T>G (p.Val394Gly)
|
rs2149946121
|
|
NM_005660.3(SLC35A2):c.128T>C (p.Leu43Pro)
|
rs1602344901
|
|
NM_005660.3(SLC35A2):c.1A>T (p.Met1Leu)
|
rs1042469070
|
|
NM_005660.3(SLC35A2):c.389_391del (p.Tyr130_Val131delinsPhe)
|
rs1602340350
|
|
NM_005660.3(SLC35A2):c.520CTC[1] (p.Leu175del)
|
rs1602338996
|
|
NM_005670.4(EPM2A):c.560C>T (p.Thr187Ile)
|
rs1582935082
|
|
NM_005677.4(COLQ):c.1195+2T>G
|
rs2125085333
|
|
NM_005677.4(COLQ):c.157dup (p.Leu53fs)
|
rs971863968
|
|
NM_005687.5(FARSB):c.1408del (p.Leu470fs)
|
rs2106209945
|
|
NM_005687.5(FARSB):c.460A>G (p.Arg154Gly)
|
rs2106230623
|
|
NM_005720.4(ARPC1B):c.763_764del (p.Asp255fs)
|
rs1584410808
|
|
NM_005802.5(TOPORS):c.2556_2557del (p.Glu852fs)
|
rs527236116
|
|
NM_005802.5(TOPORS):c.2895dup (p.Cys966fs)
|
rs1246790145
|
|
NM_005826.5(HNRNPR):c.751G>A (p.Gly251Arg)
|
rs2148375121
|
|
NM_005842.4(SPRY2):c.506A>T (p.Glu169Val)
|
rs1355075892
|
|
NM_005850.5(SF3B4):c.1060dup (p.Arg354fs)
|
rs782357237
|
|
NM_005850.5(SF3B4):c.1147dup (p.His383fs)
|
rs387907186
|
|
NM_005857.5(ZMPSTE24):c.1060-6_1085del
|
rs1569668526
|
|
NM_005859.5(PURA):c.169G>T (p.Glu57Ter)
|
rs2126748783
|
|
NM_005859.5(PURA):c.275G>C (p.Gly92Ala)
|
rs2126748878
|
|
NM_005859.5(PURA):c.409G>C (p.Asp137His)
|
rs2126749043
|
|
NM_005859.5(PURA):c.449_456del (p.Arg150fs)
|
rs1581036405
|
|
NM_005859.5(PURA):c.486C>G (p.Asn162Lys)
|
rs1085307826
|
|
NM_005859.5(PURA):c.512G>C (p.Arg171Pro)
|
rs2126749179
|
|
NM_005859.5(PURA):c.563T>C (p.Ile188Thr)
|
rs793888527
|
|
NM_005859.5(PURA):c.614T>C (p.Leu205Pro)
|
rs1581036537
|
|
NM_005859.5(PURA):c.629del (p.Gly210fs)
|
rs2126749287
|
|
NM_005859.5(PURA):c.715A>T (p.Lys239Ter)
|
rs2126749353
|
|
NM_005862.3(STAG1):c.260del (p.Leu87fs)
|
rs1576656734
|
|
NM_005901.6(SMAD2):c.908C>G (p.Thr303Arg)
|
rs2144300077
|
|
NM_005902.4(SMAD3):c.1094A>T (p.Gln365Leu)
|
rs1595962708
|
|
NM_005921.2(MAP3K1):c.1846G>A (p.Gly616Arg)
|
rs143853590
|
|
NM_005921.2(MAP3K1):c.5CGG[5] (p.Ala5dup)
|
rs779149827
|
|
NM_005957.5(MTHFR):c.233C>G (p.Ser78Ter)
|
rs776969786
|
|
NM_005994.4(TBX2):c.1160C>T (p.Pro387Leu)
|
rs1603241604
|
|
NM_006005.3(WFS1):c.1294C>G (p.Leu432Val)
|
rs35031397
|
|
NM_006005.3(WFS1):c.1829del (p.Leu610fs)
|
rs1578611240
|
|
NM_006005.3(WFS1):c.2113A>G (p.Lys705Glu)
|
rs2109127017
|
|
NM_006009.4(TUBA1A):c.1226T>C (p.Val409Ala)
|
rs797045005
|
|
NM_006009.4(TUBA1A):c.1261G>A (p.Ala421Thr)
|
rs1592259391
|
|
NM_006013.5(RPL10):c.24-13C>T
|
rs2067975238
|
|
NM_006015.6(ARID1A):c.3169T>C (p.Ser1057Pro)
|
rs2124087634
|
|
NM_006015.6(ARID1A):c.3926T>A (p.Leu1309His)
|
rs2124113018
|
|
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.5015T>G (p.Val1672Gly)
|
rs749291779
|
|
NM_006015.6(ARID1A):c.5438C>T (p.Pro1813Leu)
|
rs1373371414
|
|
NM_006015.6(ARID1A):c.6196A>T (p.Asn2066Tyr)
|
rs1570622663
|
|
NM_006017.3(PROM1):c.1354dup (p.Tyr452fs)
|
rs543698823
|
|
NM_006017.3(PROM1):c.436C>T (p.Arg146Ter)
|
rs780697796
|
|
NM_006017.3(PROM1):c.784+1G>A
|
rs745704627
|
|
NM_006017.3(PROM1):c.869del (p.Ser290fs)
|
rs1355802816
|
|
NM_006019.4(TCIRG1):c.504-6C>A
|
rs1028394725
|
|
NM_006070.6(TFG):c.854C>T (p.Pro285Leu)
|
rs207482230
|
|
NM_006073.4(TRDN):c.1313T>G (p.Ile438Ser)
|
rs2873479
|
|
NM_006079.5(CITED2):c.114CCA[1] (p.His39del)
|
rs749590293
|
|
NM_006079.5(CITED2):c.574_579del (p.Ser192_Gly193del)
|
rs751501072
|
|
NM_006087.4(TUBB4A):c.538G>A (p.Val180Met)
|
rs1064797231
|
|
NM_006087.4(TUBB4A):c.730G>C (p.Gly244Arg)
|
rs886041007
|
|
NM_006088.6(TUBB4B):c.19T>G (p.Leu7Val)
|
rs774947647
|
|
NM_006121.4(KRT1):c.564C>A (p.Asn188Lys)
|
rs59429455
|
|
NM_006147.4(IRF6):c.1210G>A (p.Glu404Lys)
|
rs769068305
|
|
NM_006158.5(NEFL):c.506dup (p.Thr170fs)
|
rs2117255104
|
|
NM_006158.5(NEFL):c.54C>G (p.Tyr18Ter)
|
rs1431523432
|
|
NM_006160.4(NEUROD2):c.1116G>T (p.Met372Ile)
|
rs1395506484
|
|
NM_006160.4(NEUROD2):c.734G>C (p.Arg245Pro)
|
rs2144811954
|
|
NM_006180.6(NTRK2):c.1195+7A>T
|
rs949522665
|
|
NM_006186.4(NR4A2):c.327dup (p.Ser110fs)
|
rs1553456695
|
|
NM_006186.4(NR4A2):c.896G>T (p.Cys299Phe)
|
rs2105605264
|
|
NM_006204.4(PDE6C):c.2192G>A (p.Trp731Ter)
|
rs1589705946
|
|
NM_006204.4(PDE6C):c.724-11C>G
|
rs2058448484
|
|
NM_006206.6(PDGFRA):c.451C>T (p.Arg151Cys)
|
rs1449637193
|
|
NM_006208.3(ENPP1):c.1366C>T (p.Arg456Ter)
|
rs1258544339
|
|
NM_006208.3(ENPP1):c.1565+1G>T
|
rs2114715547
|
|
NM_006218.4(PIK3CA):c.1139A>T (p.Asn380Ile)
|
rs202013300
|
|
NM_006218.4(PIK3CA):c.1321A>G (p.Met441Val)
|
rs1427967136
|
|
NM_006218.4(PIK3CA):c.1384A>G (p.Thr462Ala)
|
rs1242912405
|
|
NM_006218.4(PIK3CA):c.1743C>T (p.Ala581=)
|
rs370692448
|
|
NM_006218.4(PIK3CA):c.2219G>A (p.Arg740Lys)
|
rs1560147074
|
|
NM_006218.4(PIK3CA):c.2597T>G (p.Leu866Trp)
|
rs1576947658
|
|
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu)
|
rs121913279
|
|
NM_006218.4(PIK3CA):c.500A>G (p.Tyr167Cys)
|
rs761264437
|
|
NM_006218.4(PIK3CA):c.563G>A (p.Gly188Glu)
|
rs1560138278
|
|
NM_006218.4(PIK3CA):c.813+4A>G
|
rs1560138415
|
|
NM_006231.4(POLE):c.-6G>A
|
rs534524789
|
|
NM_006231.4(POLE):c.1229G>A (p.Trp410Ter)
|
rs2136000948
|
|
NM_006231.4(POLE):c.1264C>G (p.His422Asp)
|
rs745356467
|
|
NM_006231.4(POLE):c.1520T>C (p.Val507Ala)
|
rs904849438
|
|
NM_006231.4(POLE):c.2065C>T (p.Gln689Ter)
|
rs2042846526
|
|
NM_006231.4(POLE):c.2083T>C (p.Phe695Leu)
|
rs5744799
|
|
NM_006231.4(POLE):c.2089C>A (p.Pro697Thr)
|
rs5744800
|
|
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg)
|
rs36120395
|
|
NM_006231.4(POLE):c.2122C>T (p.His708Tyr)
|
rs1593791799
|
|
NM_006231.4(POLE):c.2236A>G (p.Ile746Val)
|
rs1480527153
|
|
NM_006231.4(POLE):c.2340G>C (p.Ser780=)
|
rs5744822
|
|
NM_006231.4(POLE):c.2559del (p.Ile853fs)
|
rs2135958060
|
|
NM_006231.4(POLE):c.2656C>T (p.Pro886Ser)
|
rs1393738781
|
|
NM_006231.4(POLE):c.2811C>T (p.Tyr937=)
|
rs1593777350
|
|
NM_006231.4(POLE):c.2865-17_2865-14dup
|
rs369732588
|
|
NM_006231.4(POLE):c.2865-3C>T
|
rs1203095918
|
|
NM_006231.4(POLE):c.2865-3_2865del
|
rs1593776411
|
|
NM_006231.4(POLE):c.2867A>T (p.Tyr956Phe)
|
rs1593776406
|
|
NM_006231.4(POLE):c.2869_2870del (p.Ala957fs)
|
rs1593776393
|
|
NM_006231.4(POLE):c.2872G>T (p.Val958Leu)
|
rs1443635519
|
|
NM_006231.4(POLE):c.2910_2917del (p.Phe971fs)
|
rs2138691662
|
|
NM_006231.4(POLE):c.3082G>A (p.Glu1028Lys)
|
rs2138678777
|
|
NM_006231.4(POLE):c.3275+38_3275+88del
|
rs1565955594
|
|
NM_006231.4(POLE):c.3539AGA[2] (p.Lys1182del)
|
rs1555225139
|
|
NM_006231.4(POLE):c.3582+34G>A
|
rs753702996
|
|
NM_006231.4(POLE):c.3715C>G (p.Gln1239Glu)
|
rs1565946576
|
|
NM_006231.4(POLE):c.4204G>A (p.Val1402Met)
|
rs767191767
|
|
NM_006231.4(POLE):c.4270G>T (p.Glu1424Ter)
|
rs575419120
|
|
NM_006231.4(POLE):c.427A>G (p.Asn143Asp)
|
rs889470853
|
|
NM_006231.4(POLE):c.4286C>T (p.Thr1429Ile)
|
rs2138558151
|
|
NM_006231.4(POLE):c.4476C>G (p.His1492Gln)
|
rs5744943
|
|
NM_006231.4(POLE):c.4522C>G (p.Arg1508Gly)
|
rs766511597
|
|
NM_006231.4(POLE):c.4642C>T (p.Pro1548Ser)
|
rs1555222725
|
|
NM_006231.4(POLE):c.4645C>G (p.Pro1549Ala)
|
rs147500308
|
|
NM_006231.4(POLE):c.4754T>A (p.Ile1585Asn)
|
rs1565937957
|
|
NM_006231.4(POLE):c.4945A>G (p.Met1649Val)
|
rs1565937350
|
|
NM_006231.4(POLE):c.5029C>G (p.Leu1677Val)
|
rs2138530978
|
|
NM_006231.4(POLE):c.5288A>G (p.Gln1763Arg)
|
rs1565935906
|
|
NM_006231.4(POLE):c.5296del (p.Leu1766fs)
|
rs2138524488
|
|
NM_006231.4(POLE):c.5494C>T (p.Leu1832Phe)
|
rs1456049352
|
|
NM_006231.4(POLE):c.5573G>A (p.Arg1858His)
|
rs1445288473
|
|
NM_006231.4(POLE):c.560A>G (p.Tyr187Cys)
|
rs2043122011
|
|
NM_006231.4(POLE):c.5647G>A (p.Ala1883Thr)
|
rs1565931961
|
|
NM_006231.4(POLE):c.5679-3C>T
|
rs1555221512
|
|
NM_006231.4(POLE):c.5883GGA[3] (p.Glu1966del)
|
rs757774039
|
|
NM_006231.4(POLE):c.6137-50C>T
|
rs779908266
|
|
NM_006231.4(POLE):c.6334C>T (p.Leu2112=)
|
rs373443211
|
|
NM_006231.4(POLE):c.654dup (p.Val219fs)
|
rs2136020791
|
|
NM_006231.4(POLE):c.6581A>G (p.Tyr2194Cys)
|
rs1060500872
|
|
NM_006231.4(POLE):c.6747+5G>A
|
rs1555300791
|
|
NM_006231.4(POLE):c.6765C>T (p.Ile2255=)
|
rs376336585
|
|
NM_006231.4(POLE):c.742T>C (p.Tyr248His)
|
rs2136018785
|
|
NM_006231.4(POLE):c.769A>G (p.Ile257Val)
|
rs1466704603
|
|
NM_006231.4(POLE):c.999dup (p.Val334fs)
|
rs2043045437
|
|
NM_006236.3(POU3F3):c.1085G>T (p.Arg362Leu)
|
rs1158292126
|
|
NM_006236.3(POU3F3):c.774del (p.Leu259fs)
|
rs2104340694
|
|
NM_006236.3(POU3F3):c.983A>C (p.Gln328Pro)
|
rs2104340970
|
|
NM_006245.4(PPP2R5D):c.1574C>T (p.Pro525Leu)
|
rs1581863343
|
|
NM_006245.4(PPP2R5D):c.434A>T (p.Lys145Met)
|
rs2150278470
|
|
NM_006245.4(PPP2R5D):c.620G>C (p.Trp207Ser)
|
rs2150278804
|
|
NM_006245.4(PPP2R5D):c.751G>A (p.Asp251Asn)
|
rs1762178916
|
|
NM_006260.5(DNAJC3):c.1267C>T (p.Pro423Ser)
|
rs2139698639
|
|
NM_006260.5(DNAJC3):c.1349C>G (p.Ser450Cys)
|
rs910275280
|
|
NM_006265.3(RAD21):c.144+1G>A
|
rs1586275911
|
|
NM_006265.3(RAD21):c.815-17_815-5del
|
rs35902828
|
|
NM_006267.5(RANBP2):c.1966A>G (p.Ile656Val)
|
rs121434504
|
|
NM_006269.2(RP1):c.1234dup (p.Met412fs)
|
rs760283610
|
|
NM_006269.2(RP1):c.2778T>A (p.Tyr926Ter)
|
rs1585564369
|
|
NM_006280.3(SSR4):c.358_359del (p.Arg120fs)
|
rs794729223
|
|
NM_006296.7(VRK2):c.*102_*105dup
|
rs759217526
|
|
NM_006306.4(SMC1A):c.1964G>A (p.Gly655Glu)
|
rs1602410098
|
|
NM_006306.4(SMC1A):c.2447G>A (p.Arg816His)
|
rs886044819
|
|
NM_006306.4(SMC1A):c.2814dup (p.Lys939Ter)
|
rs1602405588
|
|
NM_006306.4(SMC1A):c.3022C>T (p.Gln1008Ter)
|
rs1602398950
|
|
NM_006306.4(SMC1A):c.411+1G>C
|
rs2146606502
|
|
NM_006306.4(SMC1A):c.583G>T (p.Glu195Ter)
|
rs1602413582
|
|
NM_006306.4(SMC1A):c.615+2T>C
|
rs868985177
|
|
NM_006343.3(MERTK):c.1296+1G>C
|
rs774577413
|
|
NM_006343.3(MERTK):c.2530C>T (p.Arg844Cys)
|
rs746291728
|
|
NM_006343.3(MERTK):c.992_993del (p.Ser331fs)
|
rs1573613491
|
|
NM_006363.6(SEC23B):c.998_999del (p.His332_Tyr333insTer)
|
rs2148901002
|
|
NM_006372.5(SYNCRIP):c.700A>G (p.Ile234Val)
|
rs2128286909
|
|
NM_006412.4(AGPAT2):c.369_372del (p.Leu124fs)
|
rs1693228350
|
|
NM_006415.4(SPTLC1):c.112CTT[1] (p.Leu39del)
|
rs1197928094
|
|
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala)
|
rs119482084
|
|
NM_006420.3(ARFGEF2):c.1492del (p.Met498fs)
|
rs1600623496
|
|
NM_006445.4(PRPF8):c.6991G>A (p.Glu2331Lys)
|
rs1597223220
|
|
NM_006445.4(PRPF8):c.6994dup (p.Asp2332fs)
|
rs1597223214
|
|
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro)
|
rs104894386
|
|
NM_006493.4(CLN5):c.371del (p.Ser124fs)
|
rs794729218
|
|
NM_006493.4(CLN5):c.428A>G (p.Asn143Ser)
|
rs386833975
|
|
NM_006495.4(EVI2B):c.593del (p.Asn198fs)
|
rs765136869
|
|
NM_006502.3(POLH):c.638C>G (p.Ser213Ter)
|
rs763654639
|
|
NM_006514.4(SCN10A):c.1246AAG[1] (p.Lys417del)
|
rs758898721
|
|
NM_006514.4(SCN10A):c.1516C>T (p.His506Tyr)
|
rs745555704
|
|
NM_006514.4(SCN10A):c.2248G>C (p.Gly750Arg)
|
rs773267272
|
|
NM_006514.4(SCN10A):c.41G>T (p.Arg14Leu)
|
rs141207048
|
|
NM_006516.4(SLC2A1):c.1135_1147del (p.Phe379fs)
|
rs2124446490
|
|
NM_006516.4(SLC2A1):c.115-2A>C
|
rs2124450950
|
|
NM_006516.4(SLC2A1):c.1206_1215dup (p.Val406fs)
|
rs2124446305
|
|
NM_006516.4(SLC2A1):c.1287_1288del (p.Cys429fs)
|
rs2124445661
|
|
NM_006516.4(SLC2A1):c.1A>G (p.Met1Val)
|
rs2124478725
|
|
NM_006516.4(SLC2A1):c.274del (p.Arg92fs)
|
rs1570593820
|
|
NM_006516.4(SLC2A1):c.29del (p.Gly10fs)
|
rs2124461926
|
|
NM_006516.4(SLC2A1):c.37dup (p.Met13fs)
|
rs2124461913
|
|
NM_006516.4(SLC2A1):c.46_47insCTCCTCA (p.Val16fs)
|
rs1570601060
|
|
NM_006516.4(SLC2A1):c.524G>T (p.Gly175Val)
|
rs2124449452
|
|
NM_006516.4(SLC2A1):c.557G>A (p.Trp186Ter)
|
rs1570592933
|
|
NM_006516.4(SLC2A1):c.624del (p.Glu209fs)
|
rs1570592844
|
|
NM_006516.4(SLC2A1):c.625G>T (p.Glu209Ter)
|
rs1387203768
|
|
NM_006516.4(SLC2A1):c.635del (p.Arg212fs)
|
rs2124449287
|
|
NM_006516.4(SLC2A1):c.724C>T (p.Gln242Ter)
|
rs794729221
|
|
NM_006516.4(SLC2A1):c.739G>T (p.Glu247Ter)
|
rs2124449015
|
|
NM_006516.4(SLC2A1):c.972G>A (p.Ser324=)
|
rs796053254
|
|
NM_006517.5(SLC16A2):c.1262G>T (p.Gly421Val)
|
rs1602143383
|
|
NM_006517.5(SLC16A2):c.1373del (p.Pro458fs)
|
rs1602143432
|
|
NM_006517.5(SLC16A2):c.1388C>T (p.Pro463Leu)
|
rs2147871919
|
|
NM_006517.5(SLC16A2):c.1468G>A (p.Gly490Arg)
|
rs794727799
|
|
NM_006517.5(SLC16A2):c.407del (p.Asn136fs)
|
rs1602099961
|
|
NM_006517.5(SLC16A2):c.407dup (p.Asn136fs)
|
rs1602099961
|
|
NM_006545.5(NPRL2):c.932+1G>A
|
rs1703621639
|
|
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_006563.5(KLF1):c.973G>A (p.Glu325Lys)
|
rs267607201
|
|
NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp)
|
rs879255516
|
|
NM_006565.4(CTCF):c.1990C>T (p.Gln664Ter)
|
rs200677445
|
|
NM_006565.4(CTCF):c.37T>G (p.Ser13Ala)
|
rs1597713391
|
|
NM_006579.3(EBP):c.261C>G (p.Tyr87Ter)
|
rs145509273
|
|
NM_006579.3(EBP):c.506_507del (p.Glu169fs)
|
rs1602091152
|
|
NM_006579.3(EBP):c.527A>G (p.His176Arg)
|
rs587783618
|
|
NM_006580.4(CLDN16):c.382G>C (p.Gly128Arg)
|
rs1577430815
|
|
NM_006593.4(TBR1):c.1393A>G (p.Asn465Asp)
|
rs890226439
|
|
NM_006593.4(TBR1):c.1547del (p.Tyr516fs)
|
rs1574152522
|
|
NM_006618.5(KDM5B):c.2332A>C (p.Ser778Arg)
|
rs2102236113
|
|
NM_006618.5(KDM5B):c.3100C>G (p.Pro1034Ala)
|
rs888119055
|
|
NM_006662.3(SRCAP):c.2752A>C (p.Thr918Pro)
|
rs756223991
|
|
NM_006662.3(SRCAP):c.4543C>A (p.Leu1515Met)
|
rs1246765240
|
|
NM_006721.4(ADK):c.1031C>T (p.Ala344Val)
|
rs1589387419
|
|
NM_006721.4(ADK):c.727-8del
|
rs112610475
|
|
NM_006734.4(HIVEP2):c.5791dup (p.Thr1931fs)
|
rs2114611687
|
|
NM_006757.4(TNNT3):c.50-9G>A
|
rs776049768
|
|
NM_006766.5(KAT6A):c.2501A>C (p.Lys834Thr)
|
rs2150861823
|
|
NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1])
|
rs548231613
|
|
NM_006767.4(LZTR1):c.1480A>G (p.Arg494Gly)
|
rs2147967253
|
|
NM_006767.4(LZTR1):c.1682G>A (p.Arg561His)
|
rs970027059
|
|
NM_006767.4(LZTR1):c.26G>C (p.Gly9Ala)
|
rs756485244
|
|
NM_006767.4(LZTR1):c.685T>C (p.Cys229Arg)
|
rs886041925
|
|
NM_006772.3(SYNGAP1):c.1481T>G (p.Ile494Arg)
|
rs2151171287
|
|
NM_006772.3(SYNGAP1):c.1532-1G>C
|
rs1760930644
|
|
NM_006772.3(SYNGAP1):c.1618C>T (p.Gln540Ter)
|
rs1554121438
|
|
NM_006772.3(SYNGAP1):c.2387del (p.Pro796fs)
|
rs1581995425
|
|
NM_006772.3(SYNGAP1):c.3078del (p.Asp1026fs)
|
rs2151189924
|
|
NM_006772.3(SYNGAP1):c.3179del (p.Gly1060fs)
|
rs1581996813
|
|
NM_006772.3(SYNGAP1):c.3386T>C (p.Leu1129Pro)
|
rs1581997279
|
|
NM_006772.3(SYNGAP1):c.3599dup (p.Glu1201fs)
|
rs1582001015
|
|
NM_006772.3(SYNGAP1):c.366del (p.Ala123fs)
|
rs2151151998
|
|
NM_006772.3(SYNGAP1):c.388-2A>G
|
rs797045012
|
|
NM_006812.4(OS9):c.993+5G>A
|
|
|
NM_006831.3(CLP1):c.413C>T (p.Ala138Val)
|
rs1290439063
|
|
NM_006846.4(SPINK5):c.1089T>G (p.Tyr363Ter)
|
rs752777832
|
|
NM_006846.4(SPINK5):c.652C>T (p.Arg218Ter)
|
rs199757347
|
|
NM_006883.2(SHOX):c.638A>G (p.Glu213Gly)
|
rs1215061962
|
|
NM_006885.4(ZFHX3):c.10142_10165del (p.Arg3381_Gln3388del)
|
rs727502780
|
|
NM_006885.4(ZFHX3):c.5777dup (p.Ser1927fs)
|
rs2143441330
|
|
NM_006885.4(ZFHX3):c.6329T>C (p.Leu2110Ser)
|
rs1220435409
|
|
NM_006885.4(ZFHX3):c.8450C>G (p.Ser2817Cys)
|
rs2035818390
|
|
NM_006908.5(RAC1):c.212C>T (p.Ser71Phe)
|
rs2115201430
|
|
NM_006908.5(RAC1):c.218C>T (p.Pro73Leu)
|
rs2115201441
|
|
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
|
|
|
NM_006914.4(RORB):c.137G>T (p.Cys46Phe)
|
rs2118433165
|
|
NM_006915.3(RP2):c.102G>A (p.Lys34=)
|
rs1556313552
|
|
NM_006915.3(RP2):c.158del (p.Leu53fs)
|
rs1602347637
|
|
NM_006915.3(RP2):c.884-14G>A
|
rs1602354996
|
|
NM_006915.3(RP2):c.932del (p.Cys311fs)
|
rs1602355025
|
|
NM_006922.4(SCN3A):c.2350A>G (p.Met784Val)
|
rs778744191
|
|
NM_006922.4(SCN3A):c.2947TTG[1] (p.Leu984del)
|
rs1574159505
|
|
NM_006922.4(SCN3A):c.5295G>A (p.Met1765Ile)
|
rs2105619771
|
|
NM_006940.6(SOX5):c.1489-2A>G
|
rs2136075793
|
|
NM_006940.6(SOX5):c.1681A>C (p.Asn561His)
|
rs1591908568
|
|
NM_006946.4(SPTBN2):c.1438C>T (p.Arg480Trp)
|
rs397514749
|
|
NM_006949.4(STXBP2):c.1115C>A (p.Ala372Asp)
|
rs1434458616
|
|
NM_006949.4(STXBP2):c.1621G>A (p.Gly541Ser)
|
rs61736587
|
|
NM_006950.3(SYN1):c.700C>T (p.Arg234Ter)
|
rs2147927599
|
|
NM_007055.4(POLR3A):c.1745G>A (p.Arg582His)
|
rs34588967
|
|
NM_007059.4(KPTN):c.1183-1G>A
|
rs2122670288
|
|
NM_007103.4(NDUFV1):c.1129G>T (p.Glu377Ter)
|
rs1591111808
|
|
NM_007103.4(NDUFV1):c.1207dup (p.Asp403fs)
|
rs766830864
|
|
NM_007118.4(TRIO):c.131C>T (p.Ala44Val)
|
rs1283038205
|
|
NM_007118.4(TRIO):c.3233G>A (p.Arg1078Gln)
|
rs1745369142
|
|
NM_007118.4(TRIO):c.3570+3G>A
|
rs2152354197
|
|
NM_007118.4(TRIO):c.4519C>T (p.Arg1507Trp)
|
rs2152373766
|
|
NM_007118.4(TRIO):c.7574G>A (p.Arg2525His)
|
rs1756164006
|
|
NM_007126.5(VCP):c.271A>T (p.Asn91Tyr)
|
rs863225291
|
|
NM_007129.5(ZIC2):c.1365AGCGGCGGCGGC[1] (p.Ala467_Ala470del)
|
rs755522720
|
|
NM_007144.3(PCGF2):c.1029A>C (p.Leu343Phe)
|
rs2143048806
|
|
NM_007146.3(VEZF1):c.1008GCA[9] (p.Gln351_Gln354del)
|
rs57786397
|
|
NM_007146.3(VEZF1):c.1046_1047insGCAACAACA (p.Gln352_Gln354dup)
|
rs914850486
|
|
NM_007194.4(CHEK2):c.-7+4A>G
|
rs1601377191
|
|
NM_007194.4(CHEK2):c.1008+2T>G
|
rs1555915295
|
|
NM_007194.4(CHEK2):c.1111_1127dup (p.Glu377fs)
|
rs2052563898
|
|
NM_007194.4(CHEK2):c.1117A>G (p.Lys373Glu)
|
rs74751600
|
|
NM_007194.4(CHEK2):c.1183G>T (p.Val395Phe)
|
rs587780170
|
|
NM_007194.4(CHEK2):c.1188del (p.Val397fs)
|
rs753159426
|
|
NM_007194.4(CHEK2):c.118A>G (p.Ser40Gly)
|
rs1601853229
|
|
NM_007194.4(CHEK2):c.1216C>T (p.Arg406Cys)
|
rs587782527
|
|
NM_007194.4(CHEK2):c.1361_1362del (p.Glu454fs)
|
rs1569111699
|
|
NM_007194.4(CHEK2):c.1382A>G (p.Asp461Gly)
|
rs1555913188
|
|
NM_007194.4(CHEK2):c.138G>A (p.Met46Ile)
|
rs876660873
|
|
NM_007194.4(CHEK2):c.1392G>T (p.Lys464Asn)
|
rs764396738
|
|
NM_007194.4(CHEK2):c.1505A>G (p.Glu502Gly)
|
rs1060502682
|
|
NM_007194.4(CHEK2):c.1567C>A (p.Arg523Ser)
|
rs149501505
|
|
NM_007194.4(CHEK2):c.308T>C (p.Phe103Ser)
|
rs876658140
|
|
NM_007194.4(CHEK2):c.319+3851G>T
|
rs1601841500
|
|
NM_007194.4(CHEK2):c.319+3965C>T
|
rs766676371
|
|
NM_007194.4(CHEK2):c.319+3980C>T
|
rs1045958480
|
|
NM_007194.4(CHEK2):c.328A>G (p.Asn110Asp)
|
rs878854919
|
|
NM_007194.4(CHEK2):c.331G>T (p.Asp111Tyr)
|
rs1569159072
|
|
NM_007194.4(CHEK2):c.336C>G (p.Asn112Lys)
|
rs1060502689
|
|
NM_007194.4(CHEK2):c.392A>G (p.Lys131Arg)
|
rs1569158689
|
|
NM_007194.4(CHEK2):c.3G>A (p.Met1Ile)
|
rs786203977
|
|
NM_007194.4(CHEK2):c.444+9T>C
|
rs1437978013
|
|
NM_007194.4(CHEK2):c.544C>A (p.Pro182Thr)
|
rs786203973
|
|
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter)
|
rs536907995
|
|
NM_007194.4(CHEK2):c.592+50A>C
|
rs17881298
|
|
NM_007194.4(CHEK2):c.593-1G>T
|
rs786203229
|
|
NM_007194.4(CHEK2):c.593-2089T>C
|
rs1012399282
|
|
NM_007194.4(CHEK2):c.593-2151A>T
|
rs1411302770
|
|
NM_007194.4(CHEK2):c.593-2162_593-2156dup
|
rs199835095
|
|
NM_007194.4(CHEK2):c.613A>G (p.Thr205Ala)
|
rs587780187
|
|
NM_007194.4(CHEK2):c.616_617del (p.Val206fs)
|
rs1346554630
|
|
NM_007194.4(CHEK2):c.695G>T (p.Gly232Val)
|
rs779322187
|
|
NM_007194.4(CHEK2):c.847-3T>G
|
rs1159089063
|
|
NM_007194.4(CHEK2):c.847-5C>G
|
rs1555917045
|
|
NM_007194.4(CHEK2):c.888T>G (p.Asp296Glu)
|
rs876660742
|
|
NM_007194.4(CHEK2):c.88G>A (p.Gly30Ser)
|
rs1555932749
|
|
NM_007194.4(CHEK2):c.941del (p.Val314fs)
|
rs1601738999
|
|
NM_007194.4(CHEK2):c.988C>T (p.Gln330Ter)
|
rs768973809
|
|
NM_007194.4(CHEK2):c.99A>G (p.Ser33=)
|
rs925489951
|
|
NM_007214.5(SEC63):c.1697AAG[2] (p.Glu568del)
|
rs752018806
|
|
NM_007254.4(PNKP):c.1221_1223del (p.Thr408del)
|
rs786205207
|
|
NM_007254.4(PNKP):c.1225T>C (p.Cys409Arg)
|
rs1338672803
|
|
NM_007254.4(PNKP):c.1541_1548dup (p.Gln517fs)
|
rs1279136929
|
|
NM_007255.3(B4GALT7):c.413+60C>G
|
rs28499092
|
|
NM_007279.3(U2AF2):c.746T>A (p.Val249Asp)
|
rs2123691990
|
|
NM_007294.4(BRCA1):c.*58C>T
|
rs137892861
|
|
NM_007294.4(BRCA1):c.*855_*873A[20]GAAAAAAAAAAAAAAAAAAAAAA[1]
|
rs59541324
|
|
NM_007294.4(BRCA1):c.*865_*873dup
|
rs59541324
|
|
NM_007294.4(BRCA1):c.-107A>T
|
rs2154580237
|
|
NM_007294.4(BRCA1):c.-20+152A>G
|
rs1412775379
|
|
NM_007294.4(BRCA1):c.-20+5T>C
|
rs1057524628
|
|
NM_007294.4(BRCA1):c.-53C>T
|
rs1597925819
|
|
NM_007294.4(BRCA1):c.1021G>A (p.Asp341Asn)
|
rs756987689
|
|
NM_007294.4(BRCA1):c.103G>T (p.Val35Phe)
|
rs879255284
|
|
NM_007294.4(BRCA1):c.107C>A (p.Ser36Tyr)
|
rs183557525
|
|
NM_007294.4(BRCA1):c.1088del (p.Asn363fs)
|
rs80357954
|
|
NM_007294.4(BRCA1):c.1106_1108del (p.Asp369del)
|
rs80358325
|
|
NM_007294.4(BRCA1):c.131_132del (p.Phe43_Cys44insTer)
|
rs1597911705
|
|
NM_007294.4(BRCA1):c.1320_1330del (p.Leu440_Ile441insTer)
|
rs2154458213
|
|
NM_007294.4(BRCA1):c.1327A>T (p.Lys443Ter)
|
rs398122630
|
|
NM_007294.4(BRCA1):c.1340_1341insG (p.His448fs)
|
rs80357597
|
|
NM_007294.4(BRCA1):c.135-5T>C
|
rs587781916
|
|
NM_007294.4(BRCA1):c.1350A>T (p.Lys450Asn)
|
rs1597876640
|
|
NM_007294.4(BRCA1):c.1360_1361del (p.Glu453_Ser454insTer)
|
rs80357969
|
|
NM_007294.4(BRCA1):c.1380dup (p.Phe461fs)
|
rs80357714
|
|
NM_007294.4(BRCA1):c.1383dup (p.Gly462fs)
|
rs80357879
|
|
NM_007294.4(BRCA1):c.1441C>G (p.Leu481Val)
|
rs1397842308
|
|
NM_007294.4(BRCA1):c.1492del (p.Leu498fs)
|
rs80357527
|
|
NM_007294.4(BRCA1):c.1601A>G (p.Gln534Arg)
|
rs80357173
|
|
NM_007294.4(BRCA1):c.1612C>T (p.Gln538Ter)
|
rs80356893
|
|
NM_007294.4(BRCA1):c.1775G>A (p.Ser592Asn)
|
rs786203044
|
|
NM_007294.4(BRCA1):c.1796_1799del (p.Asn599fs)
|
rs1380657206
|
|
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del)
|
rs80358329
|
|
NM_007294.4(BRCA1):c.188T>A (p.Leu63Ter)
|
rs80357086
|
|
NM_007294.4(BRCA1):c.190T>C (p.Cys64Arg)
|
rs80357064
|
|
NM_007294.4(BRCA1):c.1912G>A (p.Glu638Lys)
|
rs80357005
|
|
NM_007294.4(BRCA1):c.192T>G (p.Cys64Trp)
|
rs587781632
|
|
NM_007294.4(BRCA1):c.1951A>C (p.Lys651Gln)
|
rs1555590804
|
|
NM_007294.4(BRCA1):c.1962dup (p.Tyr655fs)
|
rs1567797549
|
|
NM_007294.4(BRCA1):c.1997T>C (p.Leu666Pro)
|
rs1567797346
|
|
NM_007294.4(BRCA1):c.1A>G (p.Met1Val)
|
rs80357287
|
|
NM_007294.4(BRCA1):c.2037_2038insC (p.Lys680fs)
|
rs1597872557
|
|
NM_007294.4(BRCA1):c.2037delinsCC (p.Lys679fs)
|
rs397508932
|
|
NM_007294.4(BRCA1):c.2083G>T (p.Asp695Tyr)
|
rs28897681
|
|
NM_007294.4(BRCA1):c.211A>G (p.Arg71Gly)
|
rs80357382
|
|
NM_007294.4(BRCA1):c.2125_2126insA (p.Phe709fs)
|
rs80357871
|
|
NM_007294.4(BRCA1):c.213-14C>G
|
rs1060502337
|
|
NM_007294.4(BRCA1):c.2176_2177del (p.Leu726fs)
|
rs397508945
|
|
NM_007294.4(BRCA1):c.2209A>G (p.Thr737Ala)
|
rs1567796585
|
|
NM_007294.4(BRCA1):c.2217dup (p.Val740fs)
|
rs80357802
|
|
NM_007294.4(BRCA1):c.2232T>G (p.Ala744=)
|
rs4986846
|
|
NM_007294.4(BRCA1):c.2331T>G (p.Tyr777Ter)
|
rs80357444
|
|
NM_007294.4(BRCA1):c.2405_2406del (p.Val802fs)
|
rs80357706
|
|
NM_007294.4(BRCA1):c.2612C>T (p.Pro871Leu)
|
rs799917
|
|
NM_007294.4(BRCA1):c.2614T>G (p.Phe872Val)
|
rs2053728394
|
|
NM_007294.4(BRCA1):c.2683del (p.Gln895fs)
|
rs2154364983
|
|
NM_007294.4(BRCA1):c.2798G>C (p.Gly933Ala)
|
rs80356941
|
|
NM_007294.4(BRCA1):c.2800C>T (p.Gln934Ter)
|
rs80357223
|
|
NM_007294.4(BRCA1):c.2859T>C (p.Cys953=)
|
rs1597867228
|
|
NM_007294.4(BRCA1):c.2889_2890del (p.Gly964fs)
|
rs80357890
|
|
NM_007294.4(BRCA1):c.2960dup (p.Ser988fs)
|
rs886040088
|
|
NM_007294.4(BRCA1):c.296T>C (p.Leu99Ser)
|
rs1567811021
|
|
NM_007294.4(BRCA1):c.3047A>G (p.Asn1016Ser)
|
rs1567793123
|
|
NM_007294.4(BRCA1):c.3068del (p.Val1023fs)
|
rs1567793053
|
|
NM_007294.4(BRCA1):c.3119G>C (p.Ser1040Thr)
|
rs4986852
|
|
NM_007294.4(BRCA1):c.3257T>G (p.Leu1086Ter)
|
rs80357006
|
|
NM_007294.4(BRCA1):c.332A>C (p.Glu111Ala)
|
rs80357312
|
|
NM_007294.4(BRCA1):c.3331_3334del (p.Gln1111fs)
|
rs80357701
|
|
NM_007294.4(BRCA1):c.3477_3480del (p.Ile1159fs)
|
rs80357781
|
|
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs)
|
rs80357877
|
|
NM_007294.4(BRCA1):c.3586A>T (p.Thr1196Ser)
|
rs1340335862
|
|
NM_007294.4(BRCA1):c.3598C>T (p.Gln1200Ter)
|
rs62625307
|
|
NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His)
|
rs56214134
|
|
NM_007294.4(BRCA1):c.3627A>G (p.Leu1209=)
|
rs770579978
|
|
NM_007294.4(BRCA1):c.3682C>T (p.His1228Tyr)
|
rs1567790599
|
|
NM_007294.4(BRCA1):c.3700_3704del (p.Val1234fs)
|
rs80357609
|
|
NM_007294.4(BRCA1):c.372C>G (p.Ile124Met)
|
rs273900715
|
|
NM_007294.4(BRCA1):c.3782T>C (p.Leu1261Ser)
|
rs397507219
|
|
NM_007294.4(BRCA1):c.3817C>T (p.Gln1273Ter)
|
rs80357208
|
|
NM_007294.4(BRCA1):c.3916_3917del (p.Leu1306fs)
|
rs80357678
|
|
NM_007294.4(BRCA1):c.391A>G (p.Arg131Gly)
|
rs80357207
|
|
NM_007294.4(BRCA1):c.3G>A (p.Met1Ile)
|
rs80357475
|
|
NM_007294.4(BRCA1):c.4040G>A (p.Arg1347Lys)
|
rs80357210
|
|
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs)
|
rs80357508
|
|
NM_007294.4(BRCA1):c.4096+43G>A
|
rs1597859241
|
|
NM_007294.4(BRCA1):c.4152_4153del (p.Leu1385fs)
|
rs1567788338
|
|
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter)
|
rs80357260
|
|
NM_007294.4(BRCA1):c.4185+1G>A
|
rs80358076
|
|
NM_007294.4(BRCA1):c.4258C>T (p.Gln1420Ter)
|
rs80357305
|
|
NM_007294.4(BRCA1):c.4304A>G (p.Asp1435Gly)
|
rs876660809
|
|
NM_007294.4(BRCA1):c.4354A>G (p.Lys1452Glu)
|
rs398122685
|
|
NM_007294.4(BRCA1):c.4357+1G>T
|
rs80358027
|
|
NM_007294.4(BRCA1):c.4390C>A (p.Pro1464Thr)
|
rs1259139517
|
|
NM_007294.4(BRCA1):c.4396A>T (p.Ser1466Cys)
|
rs1064794830
|
|
NM_007294.4(BRCA1):c.441+2T>A
|
rs397509173
|
|
NM_007294.4(BRCA1):c.441+36_441+49del
|
rs373413425
|
|
NM_007294.4(BRCA1):c.4484+32A>G
|
rs1597838919
|
|
NM_007294.4(BRCA1):c.4484+5G>A
|
rs886040910
|
|
NM_007294.4(BRCA1):c.4484G>T (p.Arg1495Met)
|
rs80357389
|
|
NM_007294.4(BRCA1):c.4568del (p.Pro1523fs)
|
rs1567778075
|
|
NM_007294.4(BRCA1):c.4574A>G (p.Gln1525Arg)
|
rs786203386
|
|
NM_007294.4(BRCA1):c.4664G>C (p.Arg1555Thr)
|
rs786202165
|
|
NM_007294.4(BRCA1):c.4675+1G>A
|
rs80358044
|
|
NM_007294.4(BRCA1):c.4675+1G>T
|
rs80358044
|
|
NM_007294.4(BRCA1):c.4676-44A>C
|
rs989129232
|
|
NM_007294.4(BRCA1):c.470_471del (p.Leu156_Ser157insTer)
|
rs80357887
|
|
NM_007294.4(BRCA1):c.4724C>A (p.Pro1575His)
|
rs80357052
|
|
NM_007294.4(BRCA1):c.4733A>G (p.Asp1578Gly)
|
rs80356930
|
|
NM_007294.4(BRCA1):c.4736_4739del (p.Pro1579fs)
|
rs1555581017
|
|
NM_007294.4(BRCA1):c.4935G>C (p.Arg1645Ser)
|
rs80357373
|
|
NM_007294.4(BRCA1):c.4944_4945insTTTT (p.Arg1649delinsPheTer)
|
rs1597830446
|
|
NM_007294.4(BRCA1):c.4946_4948del (p.Arg1649del)
|
rs1597830403
|
|
NM_007294.4(BRCA1):c.4963T>C (p.Ser1655Pro)
|
rs1057518639
|
|
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe)
|
rs80357390
|
|
NM_007294.4(BRCA1):c.4964_4982del (p.Ser1655fs)
|
rs80359876
|
|
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del)
|
rs80358343
|
|
NM_007294.4(BRCA1):c.5030_5033del (p.Thr1677fs)
|
rs80357580
|
|
NM_007294.4(BRCA1):c.5049_5050dup (p.Thr1684fs)
|
rs2153700736
|
|
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del)
|
rs80358344
|
|
NM_007294.4(BRCA1):c.5064T>C (p.Val1688=)
|
rs1567771967
|
|
NM_007294.4(BRCA1):c.5072C>T (p.Thr1691Ile)
|
rs80357034
|
|
NM_007294.4(BRCA1):c.5074+1del
|
rs1597825560
|
|
NM_007294.4(BRCA1):c.5074+2T>C
|
rs80358089
|
|
NM_007294.4(BRCA1):c.5095C>A (p.Arg1699=)
|
rs55770810
|
|
NM_007294.4(BRCA1):c.5108A>G (p.Tyr1703Cys)
|
rs876660071
|
|
NM_007294.4(BRCA1):c.5123C>A (p.Ala1708Glu)
|
rs28897696
|
|
NM_007294.4(BRCA1):c.5152+80del
|
rs902919427
|
|
NM_007294.4(BRCA1):c.5153-2A>C
|
rs786202545
|
|
NM_007294.4(BRCA1):c.5153-31A>T
|
rs370536578
|
|
NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys)
|
rs80357239
|
|
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)
|
rs80357104
|
|
NM_007294.4(BRCA1):c.5193+11G>T
|
rs1567768534
|
|
NM_007294.4(BRCA1):c.5211A>G (p.Arg1737=)
|
rs1555576963
|
|
NM_007294.4(BRCA1):c.521A>C (p.Gln174Pro)
|
rs1567806035
|
|
NM_007294.4(BRCA1):c.5242G>C (p.Gly1748Arg)
|
rs397507245
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_007294.4(BRCA1):c.5277+7C>T
|
rs1597810359
|
|
NM_007294.4(BRCA1):c.5333-873T>C
|
rs943672382
|
|
NM_007294.4(BRCA1):c.5365G>A (p.Ala1789Thr)
|
rs80357078
|
|
NM_007294.4(BRCA1):c.5425_5430del (p.Val1809_Val1810del)
|
rs80358348
|
|
NM_007294.4(BRCA1):c.5429T>G (p.Val1810Gly)
|
rs80357451
|
|
NM_007294.4(BRCA1):c.5458G>A (p.Gly1820Ser)
|
rs398122698
|
|
NM_007294.4(BRCA1):c.5468-49C>T
|
rs1597797362
|
|
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met)
|
rs80357268
|
|
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg)
|
rs80356959
|
|
NM_007294.4(BRCA1):c.5580C>G (p.His1860Gln)
|
rs1597796507
|
|
NM_007294.4(BRCA1):c.577A>G (p.Lys193Glu)
|
rs878854962
|
|
NM_007294.4(BRCA1):c.594-16dup
|
rs1555593635
|
|
NM_007294.4(BRCA1):c.60A>C (p.Lys20Asn)
|
rs202168814
|
|
NM_007294.4(BRCA1):c.652T>G (p.Leu218Val)
|
rs765950064
|
|
NM_007294.4(BRCA1):c.66dup (p.Glu23fs)
|
rs80357783
|
|
NM_007294.4(BRCA1):c.671-18_671-16del
|
rs398122354
|
|
NM_007294.4(BRCA1):c.679G>T (p.Glu227Ter)
|
rs879255319
|
|
NM_007294.4(BRCA1):c.689_692del (p.Glu230fs)
|
rs886040308
|
|
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)
|
rs80357914
|
|
NM_007294.4(BRCA1):c.69G>C (p.Glu23Asp)
|
rs766004110
|
|
NM_007294.4(BRCA1):c.718C>T (p.Gln240Ter)
|
rs886040313
|
|
NM_007294.4(BRCA1):c.757G>A (p.Ala253Thr)
|
rs80357293
|
|
NM_007294.4(BRCA1):c.773C>G (p.Pro258Arg)
|
rs80357225
|
|
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs)
|
rs80357724
|
|
NM_007294.4(BRCA1):c.81-14C>G
|
rs80358006
|
|
NM_007294.4(BRCA1):c.81-14C>T
|
rs80358006
|
|
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser)
|
rs8176153
|
|
NM_007294.4(BRCA1):c.862A>G (p.Ser288Gly)
|
rs1597879544
|
|
NM_007294.4(BRCA1):c.932C>G (p.Pro311Arg)
|
rs1301795658
|
|
NM_007294.4(BRCA1):c.958A>T (p.Arg320Ter)
|
rs1131692065
|
|
NM_007315.4(STAT1):c.514T>C (p.Phe172Leu)
|
rs2125075036
|
|
NM_007315.4(STAT1):c.536A>G (p.Asn179Ser)
|
rs774611299
|
|
NM_007315.4(STAT1):c.876C>A (p.Asp292Glu)
|
rs1085307649
|
|
NM_007317.3(KIF22):c.1399G>A (p.Glu467Lys)
|
rs1596854441
|
|
NM_007317.3(KIF22):c.990+7C>G
|
rs2142373765
|
|
NM_007325.5(GRIA3):c.1450_1453dup (p.Pro485fs)
|
rs2147384890
|
|
NM_007325.5(GRIA3):c.1957G>A (p.Ala653Thr)
|
rs1057521721
|
|
NM_007325.5(GRIA3):c.268+16762dup
|
rs11452643
|
|
NM_007327.4(GRIN1):c.1668G>T (p.Gln556His)
|
rs2131297434
|
|
NM_007327.4(GRIN1):c.1782GGA[4] (p.Glu598del)
|
rs768704257
|
|
NM_007327.4(GRIN1):c.1832G>T (p.Trp611Leu)
|
rs2131298613
|
|
NM_007327.4(GRIN1):c.1979C>T (p.Pro660Leu)
|
rs1328780843
|
|
NM_007332.3(TRPA1):c.326dup (p.Asn109fs)
|
rs762799819
|
|
NM_007348.4(ATF6):c.1190_1191insTTTTT (p.Met397fs)
|
rs1571184566
|
|
NM_007348.4(ATF6):c.1191G>T (p.Met397Ile)
|
rs1285628089
|
|
NM_007348.4(ATF6):c.709C>T (p.Gln237Ter)
|
rs1571143590
|
|
NM_007375.4(TARDBP):c.1129T>C (p.Ser377Pro)
|
rs1570725499
|
|
NM_012062.5(DNM1L):c.1108T>C (p.Phe370Leu)
|
rs1592661973
|
|
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys)
|
rs863223953
|
|
NM_012062.5(DNM1L):c.1292G>A (p.Cys431Tyr)
|
rs1064794656
|
|
NM_012062.5(DNM1L):c.1571T>C (p.Leu524Ser)
|
rs1031075173
|
|
NM_012062.5(DNM1L):c.1822A>C (p.Lys608Gln)
|
rs1592688400
|
|
NM_012062.5(DNM1L):c.1915C>T (p.Arg639Trp)
|
rs1011225865
|
|
NM_012064.4(MIP):c.606+1G>A
|
rs1220143491
|
|
NM_012079.6(DGAT1):c.719_737dup (p.Leu247fs)
|
rs2130518888
|
|
NM_012079.6(DGAT1):c.889del (p.Gln297fs)
|
rs1200919286
|
|
NM_012151.4(F8A1):c.1097C>G (p.Pro366Arg)
|
rs1603432445
|
|
NM_012199.5(AGO1):c.1802C>T (p.Ala601Val)
|
rs2148723245
|
|
NM_012200.4(B3GAT3):c.909+263C>G
|
rs12794886
|
|
NM_012203.2(GRHPR):c.83+52del
|
rs35891798
|
|
NM_012210.4(TRIM32):c.1201A>T (p.Lys401Ter)
|
rs747266069
|
|
NM_012250.6(RRAS2):c.59T>C (p.Val20Ala)
|
rs1554955851
|
|
NM_012310.5(KIF4A):c.1525G>A (p.Asp509Asn)
|
rs1344933833
|
|
NM_012330.4(KAT6B):c.3769_3772del (p.Lys1258fs)
|
rs199470470
|
|
NM_012330.4(KAT6B):c.4065GGA[3] (p.Glu1367_Glu1368del)
|
rs367634881
|
|
NM_012330.4(KAT6B):c.4072G>T (p.Glu1358Ter)
|
rs774508465
|
|
NM_012330.4(KAT6B):c.4079AAGAGGAAG[2] (p.Glu1366_Glu1368del)
|
rs375513122
|
|
NM_012330.4(KAT6B):c.4861del (p.Ala1621fs)
|
rs1589844592
|
|
NM_012330.4(KAT6B):c.4993A>G (p.Ser1665Gly)
|
rs1589844927
|
|
NM_012448.4(STAT5B):c.1718G>A (p.Trp573Ter)
|
rs2144219508
|
|
NM_012469.4(PRPF6):c.2593C>T (p.His865Tyr)
|
rs1037019727
|
|
NM_012479.4(YWHAG):c.398A>C (p.Tyr133Ser)
|
rs1554616627
|
|
NM_012479.4(YWHAG):c.451G>T (p.Glu151Ter)
|
rs1389455796
|
|
NM_013275.6(ANKRD11):c.3603dup (p.Phe1202fs)
|
rs1597455532
|
|
NM_013275.6(ANKRD11):c.4145dup (p.Gly1384fs)
|
rs1597453026
|
|
NM_013275.6(ANKRD11):c.7061C>A (p.Pro2354His)
|
rs749176560
|
|
NM_013275.6(ANKRD11):c.7180C>T (p.Gln2394Ter)
|
rs863225296
|
|
NM_013275.6(ANKRD11):c.733G>A (p.Gly245Arg)
|
rs2034811107
|
|
NM_013275.6(ANKRD11):c.7765T>C (p.Ser2589Pro)
|
rs2151675756
|
|
NM_013275.6(ANKRD11):c.7822C>T (p.Arg2608Trp)
|
rs1597389370
|
|
NM_013336.4(SEC61A1):c.186C>A (p.Phe62Leu)
|
rs2107641650
|
|
NM_013382.7(POMT2):c.1271A>G (p.His424Arg)
|
rs1359158673
|
|
NM_013436.5(NCKAP1):c.948-6A>C
|
rs2105858704
|
|
NM_013447.4(ADGRE2):c.1230G>A (p.Met410Ile)
|
rs1005458732
|
|
NM_013447.4(ADGRE2):c.1475G>A (p.Cys492Tyr)
|
rs199718602
|
|
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_014008.5(CCDC22):c.1490T>G (p.Ile497Ser)
|
rs1007227022
|
|
NM_014009.4(FOXP3):c.1234del (p.Glu412fs)
|
rs2147944106
|
|
NM_014014.5(SNRNP200):c.1405A>G (p.Lys469Glu)
|
rs933842186
|
|
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys)
|
rs959069360
|
|
NM_014014.5(SNRNP200):c.2183G>T (p.Arg728Leu)
|
rs1477839027
|
|
NM_014023.4(WDR37):c.389C>T (p.Thr130Ile)
|
rs1589088703
|
|
NM_014028.4(OSTM1):c.486del (p.Phe162fs)
|
rs1582396088
|
|
NM_014049.5(ACAD9):c.808+63GT[14]
|
rs63473460
|
|
NM_014053.4(FLVCR1):c.1413+82TTG[6]
|
rs41300975
|
|
NM_014141.6(CNTNAP2):c.2217_2227del (p.Pro739_Lys740insTer)
|
rs1585020100
|
|
NM_014141.6(CNTNAP2):c.2773+76del
|
rs5888307
|
|
NM_014159.7(SETD2):c.1387G>C (p.Glu463Gln)
|
rs2106699134
|
|
NM_014168.4(METTL5):c.591+2T>G
|
rs1400976065
|
|
NM_014210.4(EVI2A):c.386ACA[3] (p.Asn132del)
|
rs773381280
|
|
NM_014215.3(INSRR):c.3397+4del
|
rs1451820799
|
|
NM_014215.3(INSRR):c.3397+9G>A
|
rs1322273300
|
|
NM_014225.6(PPP2R1A):c.754G>A (p.Ala252Thr)
|
rs1369485535
|
|
NM_014244.5(ADAMTS2):c.2561_2562del (p.Val854fs)
|
rs1554124086
|
|
NM_014244.5(ADAMTS2):c.47TGC[9] (p.Leu23dup)
|
rs568040559
|
|
NM_014251.3(SLC25A13):c.1420G>A (p.Val474Met)
|
rs554809009
|
|
NM_014314.4(RIGI):c.1529A>T (p.Glu510Val)
|
rs1587586052
|
|
NM_014324.6(AMACR):c.206T>C (p.Leu69Pro)
|
rs915168123
|
|
NM_014363.6(SACS):c.11941C>T (p.Gln3981Ter)
|
rs1593121484
|
|
NM_014363.6(SACS):c.3589T>C (p.Ser1197Pro)
|
rs727503785
|
|
NM_014363.6(SACS):c.6000_6004del (p.Arg2002fs)
|
rs773754134
|
|
NM_014363.6(SACS):c.8621_8624del (p.Ser2874fs)
|
rs753012964
|
|
NM_014423.4(AFF4):c.2108C>T (p.Ser703Leu)
|
rs1581278077
|
|
NM_014423.4(AFF4):c.2189C>G (p.Pro730Arg)
|
rs1581277937
|
|
NM_014423.4(AFF4):c.2485G>C (p.Gly829Arg)
|
rs763295786
|
|
NM_014444.5(TUBGCP4):c.1380G>A (p.Trp460Ter)
|
rs1595496969
|
|
NM_014467.3(SRPX2):c.602C>T (p.Ala201Val)
|
rs915881767
|
|
NM_014489.4(PGAP2):c.391dup (p.Glu131fs)
|
rs1590414565
|
|
NM_014489.4(PGAP2):c.392A>G (p.Glu131Gly)
|
rs533117826
|
|
NM_014489.4(PGAP2):c.395T>G (p.Val132Gly)
|
rs551147697
|
|
NM_014489.4(PGAP2):c.449T>C (p.Phe150Ser)
|
rs1590416370
|
|
NM_014491.4(FOXP2):c.483ACAACAGCAGCA[3] (p.Gln188_Gln191dup)
|
rs761316361
|
|
NM_014515.7(CNOT2):c.*10_*23del (p.Ter541=)
|
rs35192504
|
|
NM_014516.4(CNOT3):c.1706-2A>G
|
rs2146758722
|
|
NM_014516.4(CNOT3):c.732dup (p.Ser245fs)
|
rs753475896
|
|
NM_014585.6(SLC40A1):c.430A>G (p.Asn144Asp)
|
rs104893662
|
|
NM_014625.4(NPHS2):c.938C>T (p.Ser313Leu)
|
rs2125765231
|
|
NM_014625.4(NPHS2):c.981del (p.Gln328fs)
|
rs1572255047
|
|
NM_014639.4(SKIC3):c.2353_2361del (p.Asn785_Tyr787del)
|
rs1174587137
|
|
NM_014639.4(SKIC3):c.2849_2850del (p.Glu950fs)
|
rs2112308448
|
|
NM_014672.4(PRORP):c.16_19del (p.Phe6fs)
|
rs771817540
|
|
NM_014675.5(CROCC):c.2707C>A (p.Arg903Ser)
|
rs114863724
|
|
NM_014681.6(DHX34):c.2327G>C (p.Arg776Pro)
|
rs764483792
|
|
NM_014714.4(IFT140):c.3192del (p.Glu1065fs)
|
rs1567327347
|
|
NM_014720.4(SLK):c.3244C>T (p.Arg1082Ter)
|
rs1589547463
|
|
NM_014727.3(KMT2B):c.683del (p.Ala228fs)
|
rs2146434180
|
|
NM_014742.4(TM9SF4):c.580A>T (p.Met194Leu)
|
rs1232645854
|
|
NM_014754.3(PTDSS1):c.953C>T (p.Pro318Leu)
|
rs1586200389
|
|
NM_014780.5(CUL7):c.2862+2T>G
|
rs2150321832
|
|
NM_014780.5(CUL7):c.652del (p.Arg218fs)
|
rs1581962986
|
|
NM_014781.5(RB1CC1):c.1702C>T (p.Arg568Ter)
|
rs746206314
|
|
NM_014795.4(ZEB2):c.1848del (p.His617fs)
|
rs2149877032
|
|
NM_014795.4(ZEB2):c.194_195del (p.Val65fs)
|
rs1573743951
|
|
NM_014795.4(ZEB2):c.1_16del (p.Met1fs)
|
rs2149935184
|
|
NM_014795.4(ZEB2):c.2095C>T (p.Gln699Ter)
|
rs1573716158
|
|
NM_014795.4(ZEB2):c.244G>A (p.Glu82Lys)
|
rs1573743847
|
|
NM_014795.4(ZEB2):c.289del (p.Trp97fs)
|
rs727503784
|
|
NM_014795.4(ZEB2):c.2996_3003del (p.Met998_Tyr999insTer)
|
rs1573713477
|
|
NM_014795.4(ZEB2):c.3122A>G (p.His1041Arg)
|
rs1573708153
|
|
NM_014795.4(ZEB2):c.3134del (p.His1045fs)
|
rs2149872686
|
|
NM_014795.4(ZEB2):c.3208_3209insGA (p.Tyr1070Ter)
|
rs2149872634
|
|
NM_014822.4(SEC24D):c.483T>G (p.Pro161=)
|
rs2389688
|
|
NM_014845.6(FIG4):c.1150del (p.Arg384fs)
|
rs1583695322
|
|
NM_014846.4(WASHC5):c.420T>A (p.Cys140Ter)
|
rs148562491
|
|
NM_014862.4(ARNT2):c.791+5G>A
|
rs1595993043
|
|
NM_014874.4(MFN2):c.1091G>T (p.Arg364Leu)
|
rs879254011
|
|
NM_014874.4(MFN2):c.118A>C (p.Asn40His)
|
rs1026123951
|
|
NM_014874.4(MFN2):c.19C>T (p.Arg7Ter)
|
rs1557515779
|
|
NM_014874.4(MFN2):c.286C>A (p.His96Asn)
|
rs1569816382
|
|
NM_014874.4(MFN2):c.497C>T (p.Ala166Val)
|
rs1557522849
|
|
NM_014874.4(MFN2):c.616A>G (p.Thr206Ala)
|
rs1569842296
|
|
NM_014874.4(MFN2):c.638T>A (p.Ile213Asn)
|
rs1557524703
|
|
NM_014874.4(MFN2):c.746C>T (p.Ser249Phe)
|
rs794729198
|
|
NM_014874.4(MFN2):c.839G>C (p.Arg280Pro)
|
rs28940294
|
|
NM_014889.4(PITRM1):c.267-12_267-11insTCACCTTCCCTAGCGTGCCATTGC
|
rs572476455
|
|
NM_014920.5(CILK1):c.478_479dup (p.Ser161fs)
|
rs2127419893
|
|
NM_014946.4(SPAST):c.1037G>T (p.Gly346Val)
|
rs1573121594
|
|
NM_014946.4(SPAST):c.1091_1092del (p.Arg364fs)
|
rs1573121790
|
|
NM_014946.4(SPAST):c.1174-2A>T
|
rs1553317018
|
|
NM_014946.4(SPAST):c.1259A>G (p.Glu420Gly)
|
rs2148753634
|
|
NM_014946.4(SPAST):c.1462A>T (p.Arg488Trp)
|
rs1553318329
|
|
NM_014946.4(SPAST):c.1469_1470del (p.Gln490fs)
|
rs1573157108
|
|
NM_014946.4(SPAST):c.1493+2T>A
|
rs1553318353
|
|
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)
|
rs878854991
|
|
NM_014946.4(SPAST):c.1496G>T (p.Arg499Leu)
|
rs878854991
|
|
NM_014946.4(SPAST):c.1838A>G (p.Asp613Gly)
|
rs1553321269
|
|
NM_014946.4(SPAST):c.1841C>T (p.Thr614Ile)
|
rs1573186691
|
|
NM_014946.4(SPAST):c.838C>T (p.Gln280Ter)
|
rs1553314948
|
|
NM_014975.3(MAST1):c.3126G>C (p.Lys1042Asn)
|
rs1218676106
|
|
NM_014975.3(MAST1):c.3344A>C (p.Asn1115Thr)
|
rs1414472632
|
|
NM_014975.3(MAST1):c.691T>C (p.Cys231Arg)
|
rs1969917438
|
|
NM_014989.7(RIMS1):c.3139del (p.Thr1047fs)
|
rs587783021
|
|
NM_014991.6(WDFY3):c.6086C>T (p.Ser2029Phe)
|
rs2149233741
|
|
NM_014991.6(WDFY3):c.8444G>T (p.Gly2815Val)
|
rs1578183451
|
|
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_015046.6(SETX):c.6848_6851delCAGA
|
|
|
NM_015046.7(SETX):c.1167A>C (p.Leu389Phe)
|
rs2131463306
|
|
NM_015046.7(SETX):c.6017G>A (p.Cys2006Tyr)
|
rs200154603
|
|
NM_015046.7(SETX):c.6996_7002del (p.Asp2332fs)
|
rs1362178149
|
|
NM_015047.3(EMC1):c.1751C>G (p.Pro584Arg)
|
rs1553252938
|
|
NM_015047.3(EMC1):c.1754C>A (p.Pro585Gln)
|
rs1572001567
|
|
NM_015076.5(CDK19):c.553_554insTT (p.Lys185fs)
|
rs2114706969
|
|
NM_015076.5(CDK19):c.92C>A (p.Thr31Asn)
|
rs1783518295
|
|
NM_015100.4(POGZ):c.125-1G>T
|
rs1571533545
|
|
NM_015100.4(POGZ):c.2569A>G (p.Arg857Gly)
|
rs2102152736
|
|
NM_015100.4(POGZ):c.2789C>G (p.Pro930Arg)
|
rs145570114
|
|
NM_015100.4(POGZ):c.3424C>T (p.Arg1142Ter)
|
rs773311942
|
|
NM_015100.4(POGZ):c.394A>G (p.Met132Val)
|
rs2102308092
|
|
NM_015100.4(POGZ):c.460-1G>A
|
rs1571464589
|
|
NM_015114.3(ANKLE2):c.1892-127_1892-65del
|
rs1555235999
|
|
NM_015151.4(DIP2A):c.1431T>G (p.Gly477=)
|
rs1601714473
|
|
NM_015151.4(DIP2A):c.4682A>G (p.Gln1561Arg)
|
rs891747773
|
|
NM_015155.3(LARP4B):c.2079C>A (p.Tyr693Ter)
|
rs2131588406
|
|
NM_015166.4(MLC1):c.1052_1053insCGGGGAGGTGAGTGGCCTGTGGGGTGGGGGTGC (p.Val354_Ala355insSerGlyLeuTrpGlyGlyGlyAlaGlyGluVal)
|
rs745656804
|
|
NM_015166.4(MLC1):c.223del (p.Val75fs)
|
rs794729233
|
|
NM_015215.4(CAMTA1):c.2639G>A (p.Trp880Ter)
|
rs1576691273
|
|
NM_015215.4(CAMTA1):c.3142C>T (p.Arg1048Ter)
|
rs2149989087
|
|
NM_015278.5(SASH1):c.2642C>T (p.Pro881Leu)
|
|
|
NM_015311.3(OBSL1):c.1534+5G>C
|
rs775172922
|
|
NM_015335.5(MED13L):c.3913C>T (p.His1305Tyr)
|
rs1231044656
|
|
NM_015335.5(MED13L):c.4041G>A (p.Trp1347Ter)
|
rs2137290161
|
|
NM_015338.6(ASXL1):c.1426_1427dup (p.Glu477fs)
|
rs1600583334
|
|
NM_015338.6(ASXL1):c.2535dup (p.Ser846fs)
|
rs750170870
|
|
NM_015338.6(ASXL1):c.3460G>A (p.Gly1154Ser)
|
rs199571804
|
|
NM_015338.6(ASXL1):c.3635C>T (p.Ser1212Phe)
|
rs542568224
|
|
NM_015346.4(ZFYVE26):c.4359T>A (p.Cys1453Ter)
|
rs1594912625
|
|
NM_015346.4(ZFYVE26):c.4370G>A (p.Cys1457Tyr)
|
rs2235967
|
|
NM_015346.4(ZFYVE26):c.4633G>T (p.Glu1545Ter)
|
rs763869212
|
|
NM_015355.4(SUZ12):c.1979T>C (p.Leu660Pro)
|
rs2142222377
|
|
NM_015355.4(SUZ12):c.386+1G>A
|
rs2142117453
|
|
NM_015443.4(KANSL1):c.1325G>C (p.Arg442Pro)
|
rs1480307304
|
|
NM_015443.4(KANSL1):c.2105del (p.Lys702fs)
|
rs2146370110
|
|
NM_015443.4(KANSL1):c.2710GAG[1] (p.Glu905del)
|
rs551968687
|
|
NM_015443.4(KANSL1):c.3053C>A (p.Thr1018Asn)
|
rs145863194
|
|
NM_015443.4(KANSL1):c.985_986del (p.Leu329fs)
|
rs281865473
|
|
NM_015450.3(POT1):c.1678A>C (p.Met560Leu)
|
rs1351302431
|
|
NM_015450.3(POT1):c.1781_1782del (p.Gly594fs)
|
rs1562972380
|
|
NM_015466.4(PTPN23):c.1004-2A>C
|
rs2107717262
|
|
NM_015474.4(SAMHD1):c.626-64_626-63del
|
rs529639777
|
|
NM_015488.5(PNKD):c.538G>A (p.Gly180Arg)
|
rs1694676419
|
|
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser)
|
rs200895671
|
|
NM_015559.3(SETBP1):c.2111C>T (p.Ala704Val)
|
rs1599367870
|
|
NM_015559.3(SETBP1):c.4598C>T (p.Pro1533Leu)
|
rs2073923280
|
|
NM_015570.4(AUTS2):c.1882_1883del (p.Leu628fs)
|
rs1585667374
|
|
NM_015570.4(AUTS2):c.706T>C (p.Ser236Pro)
|
rs2129547446
|
|
NM_015629.4(PRPF31):c.1146+5_1146+6del
|
rs2146446040
|
|
NM_015629.4(PRPF31):c.165G>A (p.Trp55Ter)
|
rs1439576531
|
|
NM_015629.4(PRPF31):c.205del (p.Glu69fs)
|
rs2146394096
|
|
NM_015629.4(PRPF31):c.322+1G>A
|
rs1600335289
|
|
NM_015629.4(PRPF31):c.335del (p.Lys112fs)
|
rs1600337158
|
|
NM_015629.4(PRPF31):c.3G>A (p.Met1Ile)
|
rs1600324262
|
|
NM_015629.4(PRPF31):c.573C>A (p.Cys191Ter)
|
rs764232082
|
|
NM_015629.4(PRPF31):c.856-1G>A
|
rs1600350656
|
|
NM_015629.4(PRPF31):c.89_92del (p.Pro30fs)
|
rs1600324442
|
|
NM_015629.4(PRPF31):c.992G>A (p.Trp331Ter)
|
rs1555794205
|
|
NM_015665.6(AAAS):c.1357_1358dup (p.Gln454fs)
|
rs2121081165
|
|
NM_015665.6(AAAS):c.887C>A (p.Ser296Tyr)
|
rs1450008394
|
|
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro)
|
rs749521854
|
|
NM_015726.4(DCAF8):c.723+43G>T
|
rs114777785
|
|
NM_015836.4(WARS2):c.680T>C (p.Met227Thr)
|
rs2101095108
|
|
NM_015874.6(RBPJ):c.1064T>A (p.Val355Glu)
|
rs1141521
|
|
NM_015874.6(RBPJ):c.1066G>C (p.Ala356Pro)
|
rs1577681438
|
|
NM_015874.6(RBPJ):c.1168del (p.Cys390fs)
|
rs1577682042
|
|
NM_015874.6(RBPJ):c.1183A>G (p.Ile395Val)
|
rs1064381
|
|
NM_015874.6(RBPJ):c.154A>G (p.Arg52Gly)
|
rs1553878211
|
|
NM_015874.6(RBPJ):c.368G>A (p.Arg123Gln)
|
rs1577662911
|
|
NM_015874.6(RBPJ):c.394A>G (p.Met132Val)
|
rs1577662961
|
|
NM_015909.4(NBAS):c.335+1G>A
|
rs1573008071
|
|
NM_015915.5(ATL1):c.1024C>G (p.Pro342Ala)
|
rs1555365509
|
|
NM_015915.5(ATL1):c.1160T>C (p.Leu387Ser)
|
rs1595625010
|
|
NM_015915.5(ATL1):c.1204T>C (p.Phe402Leu)
|
rs1555365850
|
|
NM_015915.5(ATL1):c.1223T>C (p.Met408Thr)
|
rs1595625113
|
|
NM_015915.5(ATL1):c.466A>C (p.Thr156Pro)
|
rs2140205433
|
|
NM_015915.5(ATL1):c.488T>C (p.Val163Ala)
|
rs1595600383
|
|
NM_015915.5(ATL1):c.596T>A (p.Leu199Gln)
|
rs797045004
|
|
NM_015932.6(POMP):c.265-1G>C
|
rs1332221990
|
|
NM_015972.4(POLR1D):c.166C>T (p.Arg56Cys)
|
rs1014369151
|
|
NM_016032.4(ZDHHC9):c.805C>G (p.Arg269Gly)
|
rs969303226
|
|
NM_016035.5(COQ4):c.202G>A (p.Asp68Asn)
|
rs758522459
|
|
NM_016138.5(COQ7):c.635_636del (p.Tyr212fs)
|
rs2142400288
|
|
NM_016169.4(SUFU):c.1023-3C>T
|
rs550262133
|
|
NM_016169.4(SUFU):c.37A>C (p.Thr13Pro)
|
rs1456048322
|
|
NM_016169.4(SUFU):c.37_42del (p.Thr13_Ala14del)
|
rs1589969829
|
|
NM_016188.5(ACTL6B):c.-50G>C
|
rs1455860000
|
|
NM_016188.5(ACTL6B):c.435CTT[2] (p.Phe147del)
|
rs772520618
|
|
NM_016194.4(GNB5):c.1160G>C (p.Trp387Ser)
|
rs2141181367
|
|
NM_016194.4(GNB5):c.375+1G>T
|
rs886041055
|
|
NM_016204.4(GDF2):c.997C>T (p.Arg333Trp)
|
rs35129734
|
|
NM_016219.5(MAN1B1):c.179dup (p.Tyr60Ter)
|
rs1377102705
|
|
NM_016239.4(MYO15A):c.1615C>T (p.Gln539Ter)
|
rs1597752877
|
|
NM_016239.4(MYO15A):c.2972G>C (p.Gly991Ala)
|
rs1597757405
|
|
NM_016239.4(MYO15A):c.3724C>T (p.Leu1242Phe)
|
rs1364265842
|
|
NM_016327.3(UPB1):c.47A>C (p.His16Pro)
|
rs199934207
|
|
NM_016341.4(PLCE1):c.1148C>A (p.Ser383Ter)
|
rs2134504108
|
|
NM_016341.4(PLCE1):c.3698T>C (p.Leu1233Pro)
|
rs1589433172
|
|
NM_016341.4(PLCE1):c.5168-1G>A
|
rs941409069
|
|
NM_016373.4(WWOX):c.*15G>T
|
rs533890923
|
|
NM_016373.4(WWOX):c.*187_*190dup
|
rs1597489135
|
|
NM_016373.4(WWOX):c.*200GGGCT[1]
|
rs144412859
|
|
NM_016373.4(WWOX):c.1056G>C (p.Met352Ile)
|
rs2151386374
|
|
NM_016373.4(WWOX):c.107+1G>A
|
rs1300924648
|
|
NM_016373.4(WWOX):c.136C>T (p.His46Tyr)
|
rs1597207871
|
|
NM_016373.4(WWOX):c.152A>G (p.Lys51Arg)
|
rs2032292763
|
|
NM_016373.4(WWOX):c.526A>G (p.Lys176Glu)
|
rs2151934098
|
|
NM_016373.4(WWOX):c.535G>A (p.Ala179Thr)
|
rs11545029
|
|
NM_016373.4(WWOX):c.689A>C (p.Gln230Pro)
|
|
|
NM_016373.4(WWOX):c.705dup (p.His236fs)
|
rs1597216056
|
|
NM_016441.3(CRIM1):c.881T>C (p.Leu294Pro)
|
rs1418937020
|
|
NM_016507.4(CDK12):c.4340C>G (p.Thr1447Ser)
|
rs767287779
|
|
NM_016525.5(UBAP1):c.293del (p.Gly98fs)
|
rs2131620305
|
|
NM_016529.6(ATP8A2):c.1577C>T (p.Pro526Leu)
|
rs2138178224
|
|
NM_016529.6(ATP8A2):c.1761dup (p.Arg588fs)
|
rs1156904586
|
|
NM_016529.6(ATP8A2):c.2655del (p.Asn886fs)
|
rs1593326999
|
|
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del)
|
rs150384171
|
|
NM_016604.4(KDM3B):c.4627G>A (p.Ala1543Thr)
|
rs2127002980
|
|
NM_016648.4(LARP7):c.679C>T (p.Arg227Ter)
|
rs775430086
|
|
NM_016734.3(PAX5):c.1013-6A>G
|
rs1587737218
|
|
NM_016734.3(PAX5):c.604+7G>C
|
rs1237859720
|
|
NM_016938.5(EFEMP2):c.679C>T (p.Arg227Cys)
|
rs397514683
|
|
NM_016944.2(TAS2R4):c.620_621del (p.Ile207fs)
|
rs1198286927
|
|
NM_016953.4(PDE11A):c.2268_2272del (p.Ser757fs)
|
rs769235876
|
|
NM_017415.3(KLHL3):c.1519G>A (p.Val507Ile)
|
rs863225302
|
|
NM_017433.5(MYO3A):c.3948dup (p.Cys1317fs)
|
rs1589079163
|
|
NM_017460.6(CYP3A4):c.902T>C (p.Ile301Thr)
|
rs1815413655
|
|
NM_017514.5(PLXNA3):c.2589G>C (p.Glu863Asp)
|
rs5945430
|
|
NM_017514.5(PLXNA3):c.3280C>T (p.Gln1094Ter)
|
rs2148252801
|
|
NM_017534.6(MYH2):c.3652C>T (p.Arg1218Ter)
|
rs1187271694
|
|
NM_017534.6(MYH2):c.5525C>G (p.Ala1842Gly)
|
rs377255645
|
|
NM_017617.5(NOTCH1):c.1045A>C (p.Thr349Pro)
|
rs200520088
|
|
NM_017617.5(NOTCH1):c.1756A>C (p.Thr586Pro)
|
rs764854903
|
|
NM_017617.5(NOTCH1):c.1760T>C (p.Phe587Ser)
|
rs771440130
|
|
NM_017617.5(NOTCH1):c.1762A>C (p.Thr588Pro)
|
rs747384159
|
|
NM_017617.5(NOTCH1):c.3905G>T (p.Arg1302Leu)
|
rs762091081
|
|
NM_017617.5(NOTCH1):c.580A>C (p.Thr194Pro)
|
rs770333242
|
|
NM_017617.5(NOTCH1):c.931A>C (p.Thr311Pro)
|
rs202145498
|
|
NM_017635.5(KMT5B):c.668_672del (p.Lys223fs)
|
rs1590956245
|
|
NM_017649.5(CNNM2):c.2240A>G (p.Asn747Ser)
|
rs988049940
|
|
NM_017654.4(SAMD9):c.1781T>G (p.Leu594Ter)
|
rs1282838740
|
|
NM_017654.4(SAMD9):c.1800_1801del (p.Glu600fs)
|
rs375515095
|
|
NM_017739.4(POMGNT1):c.1268C>T (p.Ser423Phe)
|
rs1571655768
|
|
NM_017739.4(POMGNT1):c.235+2T>G
|
rs2148218654
|
|
NM_017739.4(POMGNT1):c.880-1G>A
|
rs1317832573
|
|
NM_017780.4(CHD7):c.1472T>A (p.Ile491Asn)
|
rs1383452692
|
|
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup)
|
rs377139749
|
|
NM_017780.4(CHD7):c.2817G>T (p.Glu939Asp)
|
rs1586389578
|
|
NM_017780.4(CHD7):c.2957+5G>A
|
rs1586390236
|
|
NM_017780.4(CHD7):c.4195A>G (p.Arg1399Gly)
|
rs1586419356
|
|
NM_017780.4(CHD7):c.5050+1G>C
|
rs1554602466
|
|
NM_017780.4(CHD7):c.5051-1G>A
|
rs1586432203
|
|
NM_017780.4(CHD7):c.5405-7G>A
|
rs398124321
|
|
NM_017780.4(CHD7):c.5879_5880del (p.Ile1959_Ser1960insTer)
|
rs2150808082
|
|
NM_017780.4(CHD7):c.5909_5910insTC (p.Glu1970fs)
|
rs2150808678
|
|
NM_017780.4(CHD7):c.5914dup (p.Ala1972fs)
|
rs1586444410
|
|
NM_017780.4(CHD7):c.7246A>T (p.Lys2416Ter)
|
rs1586452965
|
|
NM_017780.4(CHD7):c.8023G>T (p.Glu2675Ter)
|
rs748504264
|
|
NM_017825.3(ADPRS):c.316C>T (p.Gln106Ter)
|
rs368433666
|
|
NM_017825.3(ADPRS):c.485T>C (p.Leu162Pro)
|
rs1570012058
|
|
NM_017849.4(TMEM127):c.410-2A>C
|
rs121908826
|
|
NM_017882.2(CLN6):c.[460_462delATC];[829_837delGTCGCCTGG]
|
|
|
NM_017882.3(CLN6):c.406C>T (p.Arg136Cys)
|
rs1012449574
|
|
NM_017882.3(CLN6):c.476C>T (p.Pro159Leu)
|
rs919850756
|
|
NM_017882.3(CLN6):c.506T>A (p.Leu169His)
|
rs1344658850
|
|
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del)
|
rs768422260
|
|
NM_017882.3(CLN6):c.829_832del (p.Val277fs)
|
rs1595816474
|
|
NM_017882.3(CLN6):c.837del (p.Trp279fs)
|
rs1595816465
|
|
NM_017909.4(RMND1):c.388del (p.Val130fs)
|
rs1582970514
|
|
NM_017934.7(PHIP):c.1186C>T (p.Arg396Ter)
|
rs2127741566
|
|
NM_017934.7(PHIP):c.2703dup (p.Val902fs)
|
rs2127718540
|
|
NM_017934.7(PHIP):c.3027A>G (p.Ile1009Met)
|
rs2127705231
|
|
NM_017934.7(PHIP):c.50T>G (p.Phe17Cys)
|
rs878854420
|
|
NM_017950.4(CCDC40):c.2832+332_2832+395del
|
rs1567813101
|
|
NM_017950.4(CCDC40):c.2832+462_2832+490dup
|
rs758946774
|
|
NM_017951.5(SMPD4):c.792+2T>G
|
rs2104871303
|
|
NM_018026.4(PACS1):c.1574G>A (p.Arg525Lys)
|
rs2134735819
|
|
NM_018060.4(IARS2):c.1255G>A (p.Asp419Asn)
|
rs745601033
|
|
NM_018062.4(FANCL):c.775+3A>G
|
rs975755966
|
|
NM_018062.4(FANCL):c.778G>C (p.Val260Leu)
|
rs1573514956
|
|
NM_018077.3(RBM28):c.541+1del
|
rs1584663340
|
|
NM_018077.3(RBM28):c.946G>T (p.Ala316Ser)
|
rs1427042125
|
|
NM_018082.6(POLR3B):c.2045G>A (p.Arg682Lys)
|
rs2137017154
|
|
NM_018122.5(DARS2):c.1196del (p.Ile399fs)
|
rs1571995707
|
|
NM_018122.5(DARS2):c.127+94ATT[10]
|
rs55949406
|
|
NM_018122.5(DARS2):c.228-16C>A
|
rs778731200
|
|
NM_018122.5(DARS2):c.228-17C>G
|
rs754752982
|
|
NM_018127.7(ELAC2):c.225C>G (p.Tyr75Ter)
|
rs766731755
|
|
NM_018196.4(TMLHE):c.158G>A (p.Trp53Ter)
|
rs1295722407
|
|
NM_018196.4(TMLHE):c.961_962del (p.Ile321fs)
|
rs782624357
|
|
NM_018294.6(CWF19L1):c.187+1G>T
|
rs1330992740
|
|
NM_018359.5(UFSP2):c.623dup (p.Asn208fs)
|
rs1252058978
|
|
NM_018392.5(ZGRF1):c.142C>A (p.Leu48Met)
|
rs61745597
|
|
NM_018392.5(ZGRF1):c.3509_3537del (p.Gly1170fs)
|
rs1179408690
|
|
NM_018418.4(SPATA7):c.20_23del
|
rs527236050
|
|
NM_018418.5(SPATA7):c.19+102del
|
rs5810413
|
|
NM_018418.5(SPATA7):c.699_700del (p.Phe233_Ser234insTer)
|
rs567890014
|
|
NM_018418.5(SPATA7):c.8_19+14del
|
rs1595158200
|
|
NM_018451.5(CENPJ):c.61A>G (p.Met21Val)
|
rs35498994
|
|
NM_018486.3(HDAC8):c.1019A>G (p.Tyr340Cys)
|
rs1555949010
|
|
NM_018486.3(HDAC8):c.356C>T (p.Thr119Met)
|
rs587779380
|
|
NM_018486.3(HDAC8):c.738-1G>A
|
rs1602975601
|
|
NM_018489.3(ASH1L):c.1470G>T (p.Leu490Phe)
|
rs1570942991
|
|
NM_018662.3(DISC1):c.1453C>T (p.Gln485Ter)
|
rs1216921266
|
|
NM_018668.5(VPS33B):c.1031-8A>G
|
rs2151669468
|
|
NM_018668.5(VPS33B):c.1519C>T (p.Arg507Ter)
|
rs773306000
|
|
NM_018668.5(VPS33B):c.84T>A (p.Tyr28Ter)
|
rs2041122746
|
|
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter)
|
rs1131691616
|
|
NM_018685.5(ANLN):c.1852G>T (p.Gly618Cys)
|
rs1184529372
|
|
NM_018706.7(DHTKD1):c.2154_2154+1insT
|
rs1588616299
|
|
NM_018714.3(COG1):c.2665dup (p.Arg889fs)
|
rs747606976
|
|
NM_018838.5(NDUFA12):c.253G>T (p.Glu85Ter)
|
rs1592704794
|
|
NM_018849.2(ABCB4):c.[431G>A;1210C>G]
|
|
|
NM_018896.5(CACNA1G):c.2979+15A>G
|
rs1403007762
|
|
NM_018896.5(CACNA1G):c.354+5GT[13]
|
rs3833150
|
|
NM_018896.5(CACNA1G):c.5605G>A (p.Ala1869Thr)
|
rs2146293398
|
|
NM_018896.5(CACNA1G):c.5742C>A (p.His1914Gln)
|
rs200604758
|
|
NM_018941.3(CLN8):c.[208C>T;792C>G]
|
|
|
NM_018941.4(CLN8):c.-125_-124+19dup
|
rs1064793088
|
|
NM_018941.4(CLN8):c.209G>C (p.Arg70Pro)
|
rs386834124
|
|
NM_018941.4(CLN8):c.473A>C (p.Tyr158Ser)
|
rs386834130
|
|
NM_018941.4(CLN8):c.861G>C (p.Ter287Tyr)
|
rs2129015348
|
|
NM_018972.4(GDAP1):c.674GAA[1] (p.Arg226del)
|
rs1586806238
|
|
NM_018972.4(GDAP1):c.694+1G>A
|
rs1183978180
|
|
NM_018975.4(TERF2IP):c.751A>G (p.Lys251Glu)
|
rs1405253754
|
|
NM_018993.4(RIN2):c.1642G>A (p.Val548Met)
|
rs181298473
|
|
NM_019032.6(ADAMTSL4):c.767_786del (p.Gln256fs)
|
rs199473693
|
|
NM_019032.6(ADAMTSL4):c.950G>A (p.Trp317Ter)
|
rs2101584216
|
|
NM_019055.6(ROBO4):c.595_599del (p.Glu198_Lys199insTer)
|
rs1379903296
|
|
NM_019066.5(MAGEL2):c.2099dup (p.Val701fs)
|
rs2140714298
|
|
NM_019066.5(MAGEL2):c.2199del (p.Glu734fs)
|
rs1595332359
|
|
NM_019066.5(MAGEL2):c.2894G>A (p.Trp965Ter)
|
rs2140713056
|
|
NM_019074.4(DLL4):c.1143C>G (p.Asn381Lys)
|
rs1359929548
|
|
NM_019098.5(CNGB3):c.852+1G>T
|
rs1201521544
|
|
NM_019109.5(ALG1):c.208+16_208+19dup
|
rs35400794
|
|
NM_019109.5(ALG1):c.238A>G (p.Asn80Asp)
|
rs755346143
|
|
NM_019109.5(ALG1):c.34_51dup (p.Cys12_Leu17dup)
|
rs1436106795
|
|
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)
|
rs886039763
|
|
NM_019842.4(KCNQ5):c.1106C>A (p.Pro369Gln)
|
rs1135401958
|
|
NM_019842.4(KCNQ5):c.730C>T (p.Arg244Cys)
|
rs1314919218
|
|
NM_019844.4(SLCO1B3):c.205_209dup (p.Asp70fs)
|
rs558592800
|
|
NM_019851.3(FGF20):c.391-1G>A
|
rs1585100306
|
|
NM_020166.5(MCCC1):c.273+53A>C
|
rs3732604
|
|
NM_020184.4(CNNM4):c.1547-1G>A
|
rs1558993255
|
|
NM_020207.7(ERCC6L2):c.4241A>G (p.Lys1414Arg)
|
rs1588056898
|
|
NM_020223.4(FAM20C):c.953_956+30dup
|
rs771282640
|
|
NM_020247.4(ADCK3):c.[1042C>T;1651G>A]
|
|
|
NM_020247.5(COQ8A):c.1358del (p.Leu453fs)
|
rs1271428051
|
|
NM_020297.4(ABCC9):c.3674A>G (p.Tyr1225Cys)
|
rs200876028
|
|
NM_020297.4(ABCC9):c.4450-5del
|
rs4148680
|
|
NM_020320.5(RARS2):c.-2A>G
|
rs201150141
|
|
NM_020320.5(RARS2):c.1390C>T (p.Gln464Ter)
|
rs753312969
|
|
NM_020320.5(RARS2):c.407T>C (p.Val136Ala)
|
rs1057519014
|
|
NM_020320.5(RARS2):c.449T>C (p.Ile150Thr)
|
rs1582576986
|
|
NM_020366.4(RPGRIP1):c.1949C>G (p.Pro650Arg)
|
rs769167245
|
|
NM_020366.4(RPGRIP1):c.2367+23del
|
rs781728563
|
|
NM_020366.4(RPGRIP1):c.2468A>G (p.Tyr823Cys)
|
rs751521888
|
|
NM_020366.4(RPGRIP1):c.2759_2760insT (p.Gln920fs)
|
rs61751270
|
|
NM_020366.4(RPGRIP1):c.2941C>T (p.Arg981Ter)
|
rs780667159
|
|
NM_020401.4(NUP107):c.2544_2555del (p.Leu848_Leu852delinsPhe)
|
rs2136056550
|
|
NM_020431.4(TMEM63C):c.343A>G (p.Thr115Ala)
|
rs995111248
|
|
NM_020435.4(GJC2):c.1134_1144del (p.Ala379fs)
|
rs1571908452
|
|
NM_020435.4(GJC2):c.1155del (p.Arg386fs)
|
rs1196278287
|
|
NM_020549.5(CHAT):c.1381G>A (p.Val461Met)
|
rs4838544
|
|
NM_020631.6(PLEKHG5):c.985-2A>G
|
rs1553174566
|
|
NM_020632.3(ATP6V0A4):c.1755T>A (p.Cys585Ter)
|
rs1584907924
|
|
NM_020632.3(ATP6V0A4):c.2451C>A (p.Phe817Leu)
|
rs934266733
|
|
NM_020632.3(ATP6V0A4):c.369_373del (p.Glu123fs)
|
rs1584934951
|
|
NM_020661.4(AICDA):c.417G>T (p.Met139Ile)
|
rs1591744217
|
|
NM_020695.4(REXO1):c.1446_1449del (p.Lys483fs)
|
rs2145278522
|
|
NM_020699.4(GATAD2B):c.1241G>A (p.Arg414Gln)
|
rs1057521041
|
|
NM_020699.4(GATAD2B):c.33G>C (p.Leu11Phe)
|
rs2101891606
|
|
NM_020699.4(GATAD2B):c.387del (p.Asp130fs)
|
rs756062872
|
|
NM_020699.4(GATAD2B):c.574C>T (p.Gln192Ter)
|
rs1570929904
|
|
NM_020738.4(KIDINS220):c.3415-4A>G
|
rs1666821581
|
|
NM_020745.4(AARS2):c.1082C>T (p.Ser361Phe)
|
rs2153355304
|
|
NM_020745.4(AARS2):c.2487+1G>C
|
rs2153353848
|
|
NM_020745.4(AARS2):c.790G>A (p.Val264Met)
|
rs2153356902
|
|
NM_020751.3(COG6):c.154-2A>G
|
rs1593402927
|
|
NM_020759.3(STARD9):c.6300G>C (p.Arg2100Ser)
|
rs1043312563
|
|
NM_020771.4(HACE1):c.1712C>A (p.Ser571Ter)
|
rs1582418143
|
|
NM_020791.4(TAOK1):c.626G>A (p.Trp209Ter)
|
rs2031080312
|
|
NM_020822.3(KCNT1):c.1193G>A (p.Arg398Gln)
|
rs397515407
|
|
NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser)
|
rs1588344733
|
|
NM_020822.3(KCNT1):c.2009-3C>T
|
rs2131520063
|
|
NM_020822.3(KCNT1):c.2687T>A (p.Met896Lys)
|
rs1060503696
|
|
NM_020822.3(KCNT1):c.3338C>A (p.Ala1113Asp)
|
rs1193627908
|
|
NM_020822.3(KCNT1):c.600+71dup
|
rs879903723
|
|
NM_020822.3(KCNT1):c.618G>T (p.Gln206His)
|
rs958688368
|
|
NM_020822.3(KCNT1):c.841C>T (p.Leu281Phe)
|
rs1057522914
|
|
NM_020832.3(ZNF687):c.2810C>A (p.Pro937His)
|
rs148402804
|
|
NM_020832.3(ZNF687):c.3248C>G (p.Ser1083Cys)
|
rs2101887552
|
|
NM_020859.4(SHROOM3):c.179G>T (p.Gly60Val)
|
rs144435434
|
|
NM_020919.3(ALS2):c.[1911C>A;4261C>T]
|
|
|
NM_020919.4(ALS2):c.1911C>A (p.Tyr637Ter)
|
rs863225294
|
|
NM_020919.4(ALS2):c.4261C>T (p.Arg1421Ter)
|
rs863225293
|
|
NM_020928.2(ZSWIM6):c.57CGG[5] (p.Gly26del)
|
rs565100893
|
|
NM_020937.4(FANCM):c.1571A>G (p.Glu524Gly)
|
rs2139187033
|
|
NM_020937.4(FANCM):c.2074T>C (p.Tyr692His)
|
rs2139226539
|
|
NM_020937.4(FANCM):c.2582T>G (p.Ile861Arg)
|
rs901858017
|
|
NM_020937.4(FANCM):c.2586_2589del (p.Lys863fs)
|
rs768006618
|
|
NM_020937.4(FANCM):c.3830A>G (p.Asn1277Ser)
|
rs1594799862
|
|
NM_020937.4(FANCM):c.4007T>A (p.Val1336Asp)
|
rs2139253003
|
|
NM_020937.4(FANCM):c.412G>A (p.Val138Ile)
|
rs770929563
|
|
NM_020937.4(FANCM):c.4585G>A (p.Asp1529Asn)
|
rs1245071059
|
|
NM_020937.4(FANCM):c.5353T>G (p.Leu1785Val)
|
rs755563315
|
|
NM_020937.4(FANCM):c.5801T>C (p.Phe1934Ser)
|
rs2139328386
|
|
NM_020937.4(FANCM):c.767A>G (p.Gln256Arg)
|
rs2139151348
|
|
NM_020937.4(FANCM):c.857T>C (p.Val286Ala)
|
rs2139151919
|
|
NM_020964.3(EPG5):c.1252+1G>T
|
rs763788808
|
|
NM_020964.3(EPG5):c.3980A>G (p.Tyr1327Cys)
|
rs1410796384
|
|
NM_020964.3(EPG5):c.5870-2A>G
|
rs1599474108
|
|
NM_020964.3(EPG5):c.6577del (p.Val2193fs)
|
rs1599445663
|
|
NM_020975.6(RET):c.1064-4G>T
|
rs1837849469
|
|
NM_020975.6(RET):c.1377G>T (p.Glu459Asp)
|
rs1564494424
|
|
NM_020975.6(RET):c.1466A>T (p.Asp489Val)
|
rs923351888
|
|
NM_020975.6(RET):c.1467C>A (p.Asp489Glu)
|
rs372648203
|
|
NM_020975.6(RET):c.1468C>G (p.Gln490Glu)
|
rs1588871393
|
|
NM_020975.6(RET):c.1567A>C (p.Lys523Gln)
|
rs766278774
|
|
NM_020975.6(RET):c.1876C>A (p.Gln626Lys)
|
rs1255575160
|
|
NM_020975.6(RET):c.2090T>C (p.Leu697Pro)
|
rs1293039001
|
|
NM_020975.6(RET):c.2304G>T (p.Glu768Asp)
|
rs78014899
|
|
NM_020975.6(RET):c.2330A>G (p.Asn777Ser)
|
rs377767415
|
|
NM_020975.6(RET):c.2342A>G (p.Gln781Arg)
|
rs377767416
|
|
NM_020975.6(RET):c.2348A>C (p.Asn783Thr)
|
rs587778656
|
|
NM_020975.6(RET):c.2432C>G (p.Ser811Cys)
|
rs587778657
|
|
NM_020975.6(RET):c.2531G>A (p.Arg844Gln)
|
rs55947360
|
|
NM_020975.6(RET):c.2592T>C (p.Tyr864=)
|
rs1588877395
|
|
NM_020975.6(RET):c.2765C>A (p.Ser922Tyr)
|
rs377767432
|
|
NM_020975.6(RET):c.2834T>C (p.Val945Ala)
|
rs1408196943
|
|
NM_020975.6(RET):c.2847A>G (p.Gly949=)
|
rs886046989
|
|
NM_020975.6(RET):c.3182T>C (p.Leu1061Pro)
|
rs536486113
|
|
NM_020975.6(RET):c.428C>T (p.Ala143Val)
|
rs1564490082
|
|
NM_020975.6(RET):c.44TGC[4] (p.Leu19del)
|
rs768132465
|
|
NM_020975.6(RET):c.44TGC[8] (p.Leu19_Pro20insLeuLeuLeu)
|
rs768132465
|
|
NM_020975.6(RET):c.74-50G>T
|
rs766786245
|
|
NM_020975.6(RET):c.742G>A (p.Gly248Ser)
|
rs1837733775
|
|
NM_020975.6(RET):c.938G>T (p.Arg313Leu)
|
rs77702891
|
|
NM_020987.5(ANK3):c.1690-15_1690-14dup
|
rs34796699
|
|
NM_020987.5(ANK3):c.1690-15dup
|
rs34796699
|
|
NM_020987.5(ANK3):c.2659C>T (p.Gln887Ter)
|
rs1590691724
|
|
NM_020988.3(GNAO1):c.124G>A (p.Gly42Arg)
|
rs2143272046
|
|
NM_020988.3(GNAO1):c.143C>A (p.Thr48Asn)
|
rs1555499800
|
|
NM_020988.3(GNAO1):c.448A>C (p.Asn150His)
|
rs2037660713
|
|
NM_020988.3(GNAO1):c.451G>A (p.Asp151Asn)
|
rs1596867702
|
|
NM_020988.3(GNAO1):c.517C>T (p.Gln173Ter)
|
rs2143660643
|
|
NM_020988.3(GNAO1):c.607G>C (p.Gly203Arg)
|
rs587777057
|
|
NM_020988.3(GNAO1):c.610G>C (p.Gly204Arg)
|
rs2143664861
|
|
NM_020988.3(GNAO1):c.614A>C (p.Gln205Pro)
|
rs2143664881
|
|
NM_020988.3(GNAO1):c.620C>T (p.Ser207Phe)
|
rs1057518440
|
|
NM_020988.3(GNAO1):c.737A>T (p.Glu246Val)
|
rs1114167431
|
|
NM_020988.3(GNAO1):c.748C>T (p.Leu250Phe)
|
rs2143699618
|
|
NM_021008.4(DEAF1):c.1034G>C (p.Gly345Ala)
|
rs2133380560
|
|
NM_021008.4(DEAF1):c.34_35dup (p.Leu13fs)
|
rs1590028691
|
|
NM_021008.4(DEAF1):c.54_86del (p.Val19_Ala29del)
|
rs982923800
|
|
NM_021008.4(DEAF1):c.682A>T (p.Ile228Phe)
|
rs2133402700
|
|
NM_021008.4(DEAF1):c.84_98del (p.Ala29_Ala33del)
|
rs755419607
|
|
NM_021008.4(DEAF1):c.880G>C (p.Val294Leu)
|
rs1590008294
|
|
NM_021008.4(DEAF1):c.883A>G (p.Arg295Gly)
|
rs2133384267
|
|
NM_021044.4(DHH):c.1004T>C (p.Leu335Pro)
|
rs2120821285
|
|
NM_021072.4(HCN1):c.1897G>T (p.Val633Leu)
|
rs756115935
|
|
NM_021072.4(HCN1):c.203GCG[4] (p.Gly72_Gly74del)
|
rs747975797
|
|
NM_021072.4(HCN1):c.203GCG[6] (p.Gly74del)
|
rs747975797
|
|
NM_021076.4(NEFH):c.2232_2249del (p.746_751SPEKAK[1])
|
rs59890097
|
|
NM_021120.4(DLG3):c.1879G>T (p.Ala627Ser)
|
rs2147888795
|
|
NM_021224.6(ZNF462):c.1552del (p.Val518fs)
|
rs1588064794
|
|
NM_021224.6(ZNF462):c.7190A>G (p.Glu2397Gly)
|
rs1588212743
|
|
NM_021267.5(CERS1):c.248G>A (p.Arg83Gln)
|
rs1601197103
|
|
NM_021267.5(CERS1):c.425T>A (p.Met142Lys)
|
rs1601173083
|
|
NM_021625.5(TRPV4):c.1675_1698del (p.Leu559_Leu566del)
|
rs1890129676
|
|
NM_021625.5(TRPV4):c.549G>C (p.Glu183Asp)
|
rs141908793
|
|
NM_021728.4(OTX2):c.424C>A (p.Pro142Thr)
|
rs753783256
|
|
NM_021800.3(DNAJC12):c.124C>T (p.His42Tyr)
|
rs1055578473
|
|
NM_021830.5(TWNK):c.1309del (p.Gly436_Val437insTer)
|
rs2133939509
|
|
NM_021871.4(FGA):c.1621G>C (p.Val541Leu)
|
rs1578795080
|
|
NM_021922.3(FANCE):c.248+2T>C
|
rs1581696699
|
|
NM_021939.4(FKBP10):c.831dup (p.Gly278fs)
|
rs137853883
|
|
NM_021961.6(TEAD1):c.331-907AT[4]
|
rs10543484
|
|
NM_021964.3(ZNF148):c.734A>G (p.His245Arg)
|
rs2107833567
|
|
NM_021969.3(NR0B2):c.157_166del (p.His53fs)
|
rs540387719
|
|
NM_021969.3(NR0B2):c.227del (p.Phe76fs)
|
rs779783209
|
|
NM_022055.2(KCNK12):c.*8388G>T
|
rs1573613933
|
|
NM_022055.2(KCNK12):c.*8538C>T
|
|
|
NM_022089.4(ATP13A2):c.1510G>C (p.Gly504Arg)
|
rs121918227
|
|
NM_022089.4(ATP13A2):c.1749+2T>G
|
rs74058364
|
|
NM_022095.4(ZNF335):c.3014_3015insG (p.Ser1007fs)
|
rs2145359858
|
|
NM_022095.4(ZNF335):c.715GTG[3] (p.Val242del)
|
rs759141702
|
|
NM_022124.6(CDH23):c.2761del (p.Gly920_Leu921insTer)
|
rs2132739696
|
|
NM_022124.6(CDH23):c.6433G>A (p.Val2145Met)
|
rs780523589
|
|
NM_022124.6(CDH23):c.9461A>T (p.Glu3154Val)
|
rs998064994
|
|
NM_022162.3(NOD2):c.3019dup (p.Leu1007fs)
|
rs2066847
|
|
NM_022168.4(IFIH1):c.229C>T (p.Arg77Trp)
|
rs147278787
|
|
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His)
|
rs587777446
|
|
NM_022168.4(IFIH1):c.2402G>A (p.Cys801Tyr)
|
rs1576222807
|
|
NM_022356.4(P3H1):c.838C>T (p.Gln280Ter)
|
rs1652551021
|
|
NM_022455.5(NSD1):c.1237-90del
|
rs11322143
|
|
NM_022455.5(NSD1):c.1727dup (p.Asn576fs)
|
rs1299932363
|
|
NM_022455.5(NSD1):c.1743del (p.Glu581fs)
|
rs794729232
|
|
NM_022455.5(NSD1):c.2099A>G (p.Gln700Arg)
|
rs2149844607
|
|
NM_022455.5(NSD1):c.2297C>G (p.Ser766Trp)
|
rs773591859
|
|
NM_022455.5(NSD1):c.2993T>A (p.Leu998Ter)
|
rs2149846817
|
|
NM_022455.5(NSD1):c.3922-1G>C
|
rs1581407682
|
|
NM_022455.5(NSD1):c.4108C>T (p.Gln1370Ter)
|
rs1581408152
|
|
NM_022455.5(NSD1):c.4193-1G>A
|
rs1581411423
|
|
NM_022455.5(NSD1):c.4378+15_4378+16del
|
rs2149894868
|
|
NM_022455.5(NSD1):c.4817G>A (p.Cys1606Tyr)
|
rs587784127
|
|
NM_022455.5(NSD1):c.4966+96dup
|
rs373383515
|
|
NM_022455.5(NSD1):c.5303+1G>A
|
rs587784141
|
|
NM_022455.5(NSD1):c.5812A>T (p.Lys1938Ter)
|
rs1581527842
|
|
NM_022455.5(NSD1):c.6088_6089del (p.Gln2030fs)
|
rs1581535570
|
|
NM_022455.5(NSD1):c.6341C>G (p.Thr2114Arg)
|
rs914580476
|
|
NM_022455.5(NSD1):c.6366del (p.Phe2122fs)
|
rs587784192
|
|
NM_022455.5(NSD1):c.6486T>G (p.His2162Gln)
|
rs2127279165
|
|
NM_022455.5(NSD1):c.6553C>T (p.Gln2185Ter)
|
rs1581563059
|
|
NM_022455.5(NSD1):c.6557A>G (p.His2186Arg)
|
rs587784208
|
|
NM_022464.5(SIL1):c.158_159del (p.Arg53fs)
|
|
|
NM_022489.4(INF2):c.3712GAT[1] (p.Asp1239del)
|
rs1236644699
|
|
NM_022552.5(DNMT3A):c.1676G>A (p.Cys559Tyr)
|
rs1313738991
|
|
NM_022552.5(DNMT3A):c.2204A>G (p.Tyr735Cys)
|
rs147828672
|
|
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys)
|
rs377577594
|
|
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His)
|
rs147001633
|
|
NM_022731.5(NUCKS1):c.-42_-41insCCCCCCCCCCCCCCCCCCCCCCCCCG
|
rs2102454461
|
|
NM_022773.4(LMF1):c.1252G>A (p.Glu418Lys)
|
rs2151699919
|
|
NM_022773.4(LMF1):c.1264C>T (p.Gln422Ter)
|
rs887346658
|
|
NM_022893.4(BCL11A):c.1244C>G (p.Thr415Ser)
|
rs2103848148
|
|
NM_023067.4(FOXL2):c.948_955del (p.Pro317fs)
|
rs1576469579
|
|
NM_023110.3(FGFR1):c.1469G>T (p.Gly490Val)
|
rs1586172462
|
|
NM_024057.4(NUP37):c.153_156+3del
|
rs770156086
|
|
NM_024120.5(NDUFAF5):c.146G>T (p.Arg49Leu)
|
rs1600305570
|
|
NM_024306.4(FA2H):c.[117C>A];[150_159dupGCGGGCCAGG]
|
|
|
NM_024306.5(FA2H):c.160_169del (p.Ala54fs)
|
rs794729214
|
|
NM_024306.5(FA2H):c.340_363+8del
|
rs1597556143
|
|
NM_024306.5(FA2H):c.506+1G>C
|
rs753097023
|
|
NM_024312.5(GNPTAB):c.1208T>C (p.Ile403Thr)
|
rs281864973
|
|
NM_024312.5(GNPTAB):c.3456C>A (p.Asp1152Glu)
|
rs1594204203
|
|
NM_024408.4(NOTCH2):c.57C>G (p.Cys19Trp)
|
rs11810554
|
|
NM_024408.4(NOTCH2):c.6832dup (p.Thr2278fs)
|
rs2101142928
|
|
NM_024411.5(PDYN):c.217A>G (p.Thr73Ala)
|
rs786205212
|
|
NM_024411.5(PDYN):c.658_659del (p.Trp220fs)
|
rs748307861
|
|
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del)
|
rs377272752
|
|
NM_024426.6(WT1):c.1354+4_1354+11del
|
rs1590332435
|
|
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)
|
rs121907900
|
|
NM_024426.6(WT1):c.1478G>A (p.Ser493Asn)
|
rs763551837
|
|
NM_024426.6(WT1):c.1541A>G (p.Asn514Ser)
|
rs1554938531
|
|
NM_024426.6(WT1):c.156G>T (p.Glu52Asp)
|
rs1565002339
|
|
NM_024426.6(WT1):c.197C>A (p.Ala66Glu)
|
rs1341675324
|
|
NM_024426.6(WT1):c.205T>A (p.Ser69Thr)
|
rs1565002158
|
|
NM_024426.6(WT1):c.28G>T (p.Ala10Ser)
|
rs1351753257
|
|
NM_024426.6(WT1):c.29C>A (p.Ala10Asp)
|
rs997104313
|
|
NM_024426.6(WT1):c.314C>A (p.Ala105Glu)
|
rs948061247
|
|
NM_024426.6(WT1):c.391C>T (p.Pro131Ser)
|
rs564706633
|
|
NM_024426.6(WT1):c.471C>A (p.His157Gln)
|
rs753238865
|
|
NM_024426.6(WT1):c.472G>T (p.Glu158Ter)
|
rs1565001383
|
|
NM_024426.6(WT1):c.480G>C (p.Gln160His)
|
rs758900425
|
|
NM_024426.6(WT1):c.535G>A (p.Ala179Thr)
|
rs2133102397
|
|
NM_024426.6(WT1):c.541C>A (p.Arg181Ser)
|
rs1565001278
|
|
NM_024426.6(WT1):c.562C>T (p.Pro188Ser)
|
rs1565001232
|
|
NM_024426.6(WT1):c.610G>T (p.Ala204Ser)
|
rs9332973
|
|
NM_024426.6(WT1):c.649A>G (p.Ile217Val)
|
rs1384974578
|
|
NM_024426.6(WT1):c.662-2031G>A
|
rs1005247939
|
|
NM_024426.6(WT1):c.784+6C>T
|
rs1455790542
|
|
NM_024496.4(IRF2BPL):c.1739C>T (p.Thr580Ile)
|
rs1243852191
|
|
NM_024496.4(IRF2BPL):c.562C>T (p.Arg188Ter)
|
rs1345176461
|
|
NM_024496.4(IRF2BPL):c.599_608del (p.Pro200fs)
|
rs1594797739
|
|
NM_024503.5(HIVEP3):c.5000C>T (p.Ala1667Val)
|
rs2149103292
|
|
NM_024528.4(NKAP):c.961A>G (p.Met321Val)
|
rs2147845271
|
|
NM_024529.5(CDC73):c.1450C>T (p.Arg484Cys)
|
rs1225502334
|
|
NM_024529.5(CDC73):c.220dup (p.Tyr74fs)
|
rs1572142597
|
|
NM_024577.4(SH3TC2):c.2189del (p.Gly730fs)
|
rs1580900473
|
|
NM_024577.4(SH3TC2):c.731+2T>G
|
rs2127400622
|
|
NM_024577.4(SH3TC2):c.806-3C>T
|
rs1241993356
|
|
NM_024577.4(SH3TC2):c.974del (p.Asn325fs)
|
rs1580907885
|
|
NM_024592.5(SRD5A3):c.697+1G>C
|
rs1719958144
|
|
NM_024649.5(BBS1):c.1243del (p.Val415fs)
|
rs1590772920
|
|
NM_024665.7(TBL1XR1):c.1100G>T (p.Cys367Phe)
|
rs1576993654
|
|
NM_024665.7(TBL1XR1):c.1184A>G (p.Tyr395Cys)
|
rs1576982808
|
|
NM_024665.7(TBL1XR1):c.1340G>A (p.Ser447Asn)
|
rs2108407962
|
|
NM_024665.7(TBL1XR1):c.226C>T (p.Arg76Ter)
|
rs1577029680
|
|
NM_024665.7(TBL1XR1):c.703-2A>G
|
rs1577018466
|
|
NM_024675.4(PALB2):c.-23C>T
|
rs1597106322
|
|
NM_024675.4(PALB2):c.-66C>T
|
rs1597106467
|
|
NM_024675.4(PALB2):c.101G>A (p.Arg34His)
|
rs144944814
|
|
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter)
|
rs375699023
|
|
NM_024675.4(PALB2):c.1089T>C (p.Asp363=)
|
rs1597097155
|
|
NM_024675.4(PALB2):c.109C>T (p.Arg37Cys)
|
rs200048921
|
|
NM_024675.4(PALB2):c.1192del (p.Val398fs)
|
rs1555461407
|
|
NM_024675.4(PALB2):c.1217C>T (p.Ala406Val)
|
rs1060502757
|
|
NM_024675.4(PALB2):c.1226A>G (p.Tyr409Cys)
|
rs878855097
|
|
NM_024675.4(PALB2):c.1252A>G (p.Asn418Asp)
|
rs786202943
|
|
NM_024675.4(PALB2):c.1424dup (p.Arg476fs)
|
rs1555461294
|
|
NM_024675.4(PALB2):c.1432T>C (p.Ser478Pro)
|
rs1597096071
|
|
NM_024675.4(PALB2):c.1539dup (p.Gly514fs)
|
rs1567220784
|
|
NM_024675.4(PALB2):c.157G>A (p.Glu53Lys)
|
rs1184603042
|
|
NM_024675.4(PALB2):c.1588C>T (p.Leu530Phe)
|
rs876659671
|
|
NM_024675.4(PALB2):c.1671_1674del (p.Ile558fs)
|
rs1060502734
|
|
NM_024675.4(PALB2):c.1685-28T>C
|
rs1597091553
|
|
NM_024675.4(PALB2):c.1748T>G (p.Leu583Trp)
|
rs587782151
|
|
NM_024675.4(PALB2):c.1848dup (p.Glu617Ter)
|
rs1567218690
|
|
NM_024675.4(PALB2):c.1917G>T (p.Glu639Asp)
|
rs1597090787
|
|
NM_024675.4(PALB2):c.191C>T (p.Ser64Leu)
|
rs1567223942
|
|
NM_024675.4(PALB2):c.1982C>G (p.Pro661Arg)
|
rs71379822
|
|
NM_024675.4(PALB2):c.2053A>G (p.Lys685Glu)
|
rs876660397
|
|
NM_024675.4(PALB2):c.211+1G>A
|
rs1555462026
|
|
NM_024675.4(PALB2):c.2116_2129delinsG (p.Thr706fs)
|
rs1567218036
|
|
NM_024675.4(PALB2):c.2117_2129del (p.Thr706fs)
|
rs1597090031
|
|
NM_024675.4(PALB2):c.212-1G>T
|
rs1597099910
|
|
NM_024675.4(PALB2):c.212-50dup
|
rs759760268
|
|
NM_024675.4(PALB2):c.212-8C>T
|
rs1387711045
|
|
NM_024675.4(PALB2):c.212-9C>T
|
rs1555461884
|
|
NM_024675.4(PALB2):c.2185_2186insA (p.Pro729fs)
|
rs1597089845
|
|
NM_024675.4(PALB2):c.2218C>T (p.Gln740Ter)
|
rs1555460445
|
|
NM_024675.4(PALB2):c.226del (p.Ile76fs)
|
rs587782443
|
|
NM_024675.4(PALB2):c.2377G>A (p.Gly793Ser)
|
rs878855109
|
|
NM_024675.4(PALB2):c.2398T>A (p.Cys800Ser)
|
rs1567217401
|
|
NM_024675.4(PALB2):c.2425A>G (p.Thr809Ala)
|
rs753204710
|
|
NM_024675.4(PALB2):c.2448C>G (p.Phe816Leu)
|
rs876659879
|
|
NM_024675.4(PALB2):c.2466G>T (p.Gln822His)
|
rs1157451265
|
|
NM_024675.4(PALB2):c.2504C>T (p.Ser835Phe)
|
rs876660357
|
|
NM_024675.4(PALB2):c.2506G>A (p.Val836Ile)
|
rs536644825
|
|
NM_024675.4(PALB2):c.2514+10A>G
|
rs1032636199
|
|
NM_024675.4(PALB2):c.2566C>T (p.Gln856Ter)
|
rs770996884
|
|
NM_024675.4(PALB2):c.2587-1G>C
|
rs761214886
|
|
NM_024675.4(PALB2):c.2770_2773dup (p.Val925fs)
|
rs1597082866
|
|
NM_024675.4(PALB2):c.2927G>C (p.Arg976Thr)
|
rs1567213697
|
|
NM_024675.4(PALB2):c.2961A>G (p.Gln987=)
|
rs1555459530
|
|
NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer)
|
rs587781840
|
|
NM_024675.4(PALB2):c.2996+5G>T
|
rs879254193
|
|
NM_024675.4(PALB2):c.2996+9del
|
rs769414858
|
|
NM_024675.4(PALB2):c.2998G>C (p.Gly1000Arg)
|
rs1966773345
|
|
NM_024675.4(PALB2):c.3008del (p.Asn1003fs)
|
rs1567213009
|
|
NM_024675.4(PALB2):c.3027del (p.Glu1010fs)
|
rs876659378
|
|
NM_024675.4(PALB2):c.3085A>G (p.Thr1029Ala)
|
rs1567212837
|
|
NM_024675.4(PALB2):c.311C>T (p.Pro104Leu)
|
rs1555461835
|
|
NM_024675.4(PALB2):c.3130C>T (p.Gln1044Ter)
|
rs766394024
|
|
NM_024675.4(PALB2):c.3184A>G (p.Lys1062Glu)
|
rs1567209813
|
|
NM_024675.4(PALB2):c.3202-1G>C
|
rs515726111
|
|
NM_024675.4(PALB2):c.3233G>C (p.Cys1078Ser)
|
rs1567206945
|
|
NM_024675.4(PALB2):c.3271C>T (p.Gln1091Ter)
|
rs864622138
|
|
NM_024675.4(PALB2):c.3307G>A (p.Val1103Met)
|
rs201657283
|
|
NM_024675.4(PALB2):c.3332del (p.Pro1111fs)
|
rs1597066595
|
|
NM_024675.4(PALB2):c.3350+4A>G
|
rs180177136
|
|
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys)
|
rs876659859
|
|
NM_024675.4(PALB2):c.3351-48del
|
rs140806991
|
|
NM_024675.4(PALB2):c.3492G>A (p.Trp1164Ter)
|
rs587782217
|
|
NM_024675.4(PALB2):c.38A>G (p.Glu13Gly)
|
rs876658288
|
|
NM_024675.4(PALB2):c.43G>T (p.Glu15Ter)
|
rs730881884
|
|
NM_024675.4(PALB2):c.49-432A>G
|
rs1597102250
|
|
NM_024675.4(PALB2):c.509_510del (p.Arg170fs)
|
rs515726123
|
|
NM_024675.4(PALB2):c.50T>G (p.Leu17Ter)
|
rs1567224232
|
|
NM_024675.4(PALB2):c.538G>A (p.Glu180Lys)
|
rs750782778
|
|
NM_024675.4(PALB2):c.625del (p.Ser209fs)
|
rs1597098739
|
|
NM_024675.4(PALB2):c.676A>G (p.Thr226Ala)
|
rs1555461680
|
|
NM_024675.4(PALB2):c.715del (p.Arg239fs)
|
rs1567222476
|
|
NM_024675.4(PALB2):c.7G>T (p.Glu3Ter)
|
rs878855123
|
|
NM_024675.4(PALB2):c.874C>A (p.Gln292Lys)
|
rs1335897946
|
|
NM_024675.4(PALB2):c.93dup (p.Leu32fs)
|
rs864622498
|
|
NM_024675.4(PALB2):c.956C>T (p.Ser319Phe)
|
rs200144401
|
|
NM_024685.4(BBS10):c.1315del (p.Gln439fs)
|
rs1592491950
|
|
NM_024685.4(BBS10):c.1418T>C (p.Val473Ala)
|
rs763473990
|
|
NM_024757.5(EHMT1):c.1292_1296del (p.Gly431fs)
|
rs2136218711
|
|
NM_024757.5(EHMT1):c.1553C>G (p.Pro518Arg)
|
rs1287556019
|
|
NM_024757.5(EHMT1):c.2018+1G>A
|
rs1950997931
|
|
NM_024757.5(EHMT1):c.2976del (p.Ser992fs)
|
rs1588854011
|
|
NM_024757.5(EHMT1):c.3252C>G (p.Tyr1084Ter)
|
rs368087892
|
|
NM_024757.5(EHMT1):c.3310G>T (p.Glu1104Ter)
|
rs886041093
|
|
NM_024757.5(EHMT1):c.3709C>T (p.Gln1237Ter)
|
rs1325669112
|
|
NM_024757.5(EHMT1):c.389_397del (p.Pro130_Leu132del)
|
rs1588328189
|
|
NM_024757.5(EHMT1):c.824-2A>T
|
rs866090137
|
|
NM_024757.5(EHMT1):c.824-2del
|
rs1234654104
|
|
NM_024757.5(EHMT1):c.82G>C (p.Glu28Gln)
|
rs1342402816
|
|
NM_024818.6(UBA5):c.1A>G (p.Met1Val)
|
rs2107921941
|
|
NM_024818.6(UBA5):c.36_37del (p.Gln13fs)
|
rs2107922089
|
|
NM_024852.4(AGO3):c.1076A>G (p.Asp359Gly)
|
rs2148814635
|
|
NM_024852.4(AGO3):c.1475T>C (p.Phe492Ser)
|
rs2148833931
|
|
NM_024915.4(GRHL2):c.21-2A>G
|
rs1811191593
|
|
NM_024989.4(PGAP1):c.1066A>T (p.Lys356Ter)
|
rs1576164991
|
|
NM_024989.4(PGAP1):c.2274C>G (p.Tyr758Ter)
|
rs1576086299
|
|
NM_024996.7(GFM1):c.1781G>A (p.Cys594Tyr)
|
rs1576790457
|
|
NM_025000.4(DCAF17):c.732+70dup
|
rs58636477
|
|
NM_025074.7(FRAS1):c.11445+68_11445+69del
|
rs3062747
|
|
NM_025077.4(TOE1):c.52+76A>G
|
rs547694371
|
|
NM_025081.3(NYNRIN):c.2650G>A (p.Val884Ile)
|
rs751644731
|
|
NM_025081.3(NYNRIN):c.5600C>G (p.Pro1867Arg)
|
rs2139356460
|
|
NM_025099.6(CTC1):c.2346del (p.Leu783fs)
|
rs761076987
|
|
NM_025099.6(CTC1):c.248G>A (p.Ser83Asn)
|
rs78870822
|
|
NM_025114.4(CEP290):c.14T>C (p.Ile5Thr)
|
rs1434632102
|
|
NM_025114.4(CEP290):c.1522+1G>C
|
rs1592639588
|
|
NM_025114.4(CEP290):c.1666del (p.Ile556fs)
|
rs727503855
|
|
NM_025114.4(CEP290):c.1666dup (p.Ile556fs)
|
rs727503855
|
|
NM_025114.4(CEP290):c.223A>G (p.Lys75Glu)
|
rs779010679
|
|
NM_025114.4(CEP290):c.4704G>C (p.Glu1568Asp)
|
rs1592836704
|
|
NM_025114.4(CEP290):c.5777G>C (p.Arg1926Pro)
|
rs778030031
|
|
NM_025114.4(CEP290):c.6271-8T>G
|
rs1039146791
|
|
NM_025114.4(CEP290):c.881C>G (p.Ser294Ter)
|
rs1592668925
|
|
NM_025132.4(WDR19):c.108T>G (p.Tyr36Ter)
|
rs1577822861
|
|
NM_025132.4(WDR19):c.2786G>C (p.Arg929Pro)
|
rs201685269
|
|
NM_025137.4(SPG11):c.193G>A (p.Val65Met)
|
rs999651004
|
|
NM_025137.4(SPG11):c.2013_2026dup (p.Lys676fs)
|
rs1595898078
|
|
NM_025137.4(SPG11):c.2048G>A (p.Trp683Ter)
|
rs1595898030
|
|
NM_025137.4(SPG11):c.2444+1G>C
|
rs312262743
|
|
NM_025137.4(SPG11):c.334G>T (p.Glu112Ter)
|
rs1595940058
|
|
NM_025137.4(SPG11):c.3809T>A (p.Val1270Asp)
|
rs1555451521
|
|
NM_025137.4(SPG11):c.4434+1G>A
|
rs1567148391
|
|
NM_025137.4(SPG11):c.529_533del (p.Ile177fs)
|
rs312262716
|
|
NM_025137.4(SPG11):c.592C>T (p.Gln198Ter)
|
rs863225440
|
|
NM_025137.4(SPG11):c.6632dup (p.Pro2212fs)
|
rs863225439
|
|
NM_025137.4(SPG11):c.6715G>A (p.Ala2239Thr)
|
rs2140916975
|
|
NM_025137.4(SPG11):c.6832_6833del (p.Ser2278fs)
|
rs312262784
|
|
NM_025137.4(SPG11):c.7158ACA[1] (p.Gln2387del)
|
rs376599651
|
|
NM_025150.5(TARS2):c.1401+5C>T
|
rs1469795308
|
|
NM_025243.4(SLC19A3):c.74dup (p.Ser26fs)
|
rs786205213
|
|
NM_025243.4(SLC19A3):c.980-4del
|
rs11334205
|
|
NM_030632.3(ASXL3):c.1884_1885del (p.Gly629fs)
|
rs1599564118
|
|
NM_030632.3(ASXL3):c.3330_3333dup (p.Ala1112fs)
|
rs1599570895
|
|
NM_030632.3(ASXL3):c.3807T>G (p.Ser1269Arg)
|
rs2145425648
|
|
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del)
|
rs149716029
|
|
NM_030665.4(RAI1):c.4814del (p.Asp1605fs)
|
rs1598093659
|
|
NM_030665.4(RAI1):c.4958C>T (p.Pro1653Leu)
|
rs931068297
|
|
NM_030665.4(RAI1):c.5709+5G>C
|
rs2143006568
|
|
NM_030787.4(CFHR5):c.486dup (p.Glu163fs)
|
rs565457964
|
|
NM_030928.4(CDT1):c.248C>T (p.Pro83Leu)
|
rs139038990
|
|
NM_030958.3(SLCO5A1):c.254C>A (p.Ala85Asp)
|
rs966779038
|
|
NM_030962.4(SBF2):c.1892C>A (p.Ala631Asp)
|
rs376057124
|
|
NM_030962.4(SBF2):c.4877del (p.Pro1626fs)
|
rs1852575488
|
|
NM_030962.4(SBF2):c.5203C>T (p.Gln1735Ter)
|
rs1590076969
|
|
NM_031220.4(PITPNM3):c.2177T>G (p.Met726Arg)
|
rs761710050
|
|
NM_031229.4(RBCK1):c.994_999del (p.Cys332_Ser333del)
|
rs2122282189
|
|
NM_031263.4(HNRNPK):c.1109A>G (p.Asp370Gly)
|
rs2133020093
|
|
NM_031263.4(HNRNPK):c.1240C>T (p.Arg414Cys)
|
rs1348162749
|
|
NM_031263.4(HNRNPK):c.214-35A>G
|
rs1554700718
|
|
NM_031407.7(HUWE1):c.11215C>G (p.Arg3739Gly)
|
rs2147135304
|
|
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln)
|
rs1557036768
|
|
NM_031407.7(HUWE1):c.4546C>G (p.Gln1516Glu)
|
rs1602910127
|
|
NM_031433.4(MFRP):c.498del (p.Asn167fs)
|
rs587776596
|
|
NM_031433.4(MFRP):c.666del (p.Thr223fs)
|
rs1435204327
|
|
NM_031844.3(HNRNPU):c.112C>A (p.Leu38Ile)
|
rs2102991012
|
|
NM_031844.3(HNRNPU):c.1681dup (p.Gln561fs)
|
rs1573330458
|
|
NM_031844.3(HNRNPU):c.1900C>T (p.Leu634Phe)
|
rs2102985676
|
|
NM_031844.3(HNRNPU):c.1905_1906del (p.Lys635fs)
|
rs2102985675
|
|
NM_031844.3(HNRNPU):c.223G>T (p.Glu75Ter)
|
rs773969888
|
|
NM_031844.3(HNRNPU):c.2304_2305del (p.Gly769fs)
|
rs794729648
|
|
NM_031844.3(HNRNPU):c.336_353del (p.Ala113_Ser118del)
|
rs2102990769
|
|
NM_031844.3(HNRNPU):c.415C>T (p.Gln139Ter)
|
rs1573337948
|
|
NM_031844.3(HNRNPU):c.651_660del (p.Gly218fs)
|
rs779453109
|
|
NM_031844.3(HNRNPU):c.804-9_804-6del
|
rs2102989400
|
|
NM_031885.5(BBS2):c.1546C>T (p.Gln516Ter)
|
rs1597012997
|
|
NM_032043.3(BRIP1):c.-165A>G
|
rs1603369145
|
|
NM_032043.3(BRIP1):c.1000G>T (p.Ala334Ser)
|
rs535414791
|
|
NM_032043.3(BRIP1):c.1014A>G (p.Glu338=)
|
rs1490732516
|
|
NM_032043.3(BRIP1):c.1066C>G (p.Arg356Gly)
|
rs730881633
|
|
NM_032043.3(BRIP1):c.1131A>G (p.Ile377Met)
|
rs927733243
|
|
NM_032043.3(BRIP1):c.1336A>C (p.Ile446Leu)
|
rs786203496
|
|
NM_032043.3(BRIP1):c.1340+1G>A
|
rs1555607022
|
|
NM_032043.3(BRIP1):c.1341-3C>G
|
rs864622597
|
|
NM_032043.3(BRIP1):c.1355A>G (p.Asn452Ser)
|
rs1603340413
|
|
NM_032043.3(BRIP1):c.1427C>G (p.Thr476Ser)
|
rs1567825164
|
|
NM_032043.3(BRIP1):c.1616G>A (p.Arg539Lys)
|
rs199616792
|
|
NM_032043.3(BRIP1):c.1838C>T (p.Thr613Ile)
|
rs864622345
|
|
NM_032043.3(BRIP1):c.1871C>T (p.Ser624Leu)
|
rs587781321
|
|
NM_032043.3(BRIP1):c.1919T>C (p.Ile640Thr)
|
rs1567812341
|
|
NM_032043.3(BRIP1):c.1921A>T (p.Ile641Phe)
|
rs1603333007
|
|
NM_032043.3(BRIP1):c.1932A>T (p.Ser644=)
|
rs1603332998
|
|
NM_032043.3(BRIP1):c.1934A>G (p.Gln645Arg)
|
rs876660648
|
|
NM_032043.3(BRIP1):c.1935+4A>T
|
rs1603332968
|
|
NM_032043.3(BRIP1):c.1935+5G>A
|
rs1209289625
|
|
NM_032043.3(BRIP1):c.1935+8G>T
|
rs767048212
|
|
NM_032043.3(BRIP1):c.1936-2A>C
|
rs878855143
|
|
NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys)
|
rs786202760
|
|
NM_032043.3(BRIP1):c.205+1del
|
rs1057517648
|
|
NM_032043.3(BRIP1):c.2078_2079del (p.Cys693fs)
|
rs1603328466
|
|
NM_032043.3(BRIP1):c.2097+2T>A
|
rs2077532634
|
|
NM_032043.3(BRIP1):c.2098-8C>T
|
rs917048033
|
|
NM_032043.3(BRIP1):c.2181A>G (p.Pro727=)
|
rs1603304559
|
|
NM_032043.3(BRIP1):c.2379+5G>C
|
rs1567779316
|
|
NM_032043.3(BRIP1):c.2379+7C>T
|
rs1057520464
|
|
NM_032043.3(BRIP1):c.2497A>G (p.Ile833Val)
|
rs199831248
|
|
NM_032043.3(BRIP1):c.2575+2dup
|
rs1555574711
|
|
NM_032043.3(BRIP1):c.266C>G (p.Ala89Gly)
|
rs1349422972
|
|
NM_032043.3(BRIP1):c.2692G>A (p.Asp898Asn)
|
rs2144114911
|
|
NM_032043.3(BRIP1):c.2876C>G (p.Pro959Arg)
|
rs1567731036
|
|
NM_032043.3(BRIP1):c.2905+31T>C
|
rs1603276473
|
|
NM_032043.3(BRIP1):c.2917T>A (p.Phe973Ile)
|
rs1060501727
|
|
NM_032043.3(BRIP1):c.2961A>C (p.Arg987Ser)
|
rs1567729555
|
|
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)
|
rs771028677
|
|
NM_032043.3(BRIP1):c.2994G>C (p.Lys998Asn)
|
rs757225144
|
|
NM_032043.3(BRIP1):c.30del (p.Ile10fs)
|
rs1567878234
|
|
NM_032043.3(BRIP1):c.3148A>C (p.Thr1050Pro)
|
rs1567728933
|
|
NM_032043.3(BRIP1):c.3260dup (p.Asn1087fs)
|
rs771654971
|
|
NM_032043.3(BRIP1):c.3275C>A (p.Pro1092Gln)
|
rs587780830
|
|
NM_032043.3(BRIP1):c.3412G>A (p.Asp1138Asn)
|
rs587780249
|
|
NM_032043.3(BRIP1):c.3651G>T (p.Trp1217Cys)
|
rs542698396
|
|
NM_032043.3(BRIP1):c.3691A>G (p.Ile1231Val)
|
rs876659290
|
|
NM_032043.3(BRIP1):c.3731T>A (p.Met1244Lys)
|
rs1260819959
|
|
NM_032043.3(BRIP1):c.3749A>T (p.Ter1250Leu)
|
rs1603274602
|
|
NM_032043.3(BRIP1):c.380-6T>C
|
rs780921390
|
|
NM_032043.3(BRIP1):c.408A>C (p.Ala136=)
|
rs876660891
|
|
NM_032043.3(BRIP1):c.439T>C (p.Tyr147His)
|
rs1567868580
|
|
NM_032043.3(BRIP1):c.507+9_507+10del
|
rs747185394
|
|
NM_032043.3(BRIP1):c.588C>G (p.Asn196Lys)
|
rs758851721
|
|
NM_032043.3(BRIP1):c.629C>A (p.Pro210His)
|
rs140097800
|
|
NM_032043.3(BRIP1):c.671G>C (p.Gly224Ala)
|
rs990737815
|
|
NM_032043.3(BRIP1):c.720del (p.Lys240fs)
|
rs1567838246
|
|
NM_032043.3(BRIP1):c.93+4_93+7del
|
rs1224034842
|
|
NM_032119.4(ADGRV1):c.14467dup (p.Val4823fs)
|
rs1581135405
|
|
NM_032119.4(ADGRV1):c.3133del (p.Ala1045fs)
|
rs1439933768
|
|
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn)
|
rs41302834
|
|
NM_032119.4(ADGRV1):c.9208G>T (p.Asp3070Tyr)
|
rs1580845586
|
|
NM_032271.3(TRAF7):c.159C>A (p.Tyr53Ter)
|
rs2141279710
|
|
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln)
|
rs1331463984
|
|
NM_032415.7(CARD11):c.874C>T (p.Arg292Cys)
|
rs771790639
|
|
NM_032444.4(SLX4):c.1186C>G (p.Leu396Val)
|
rs1596528058
|
|
NM_032444.4(SLX4):c.3607C>G (p.Pro1203Ala)
|
rs745508761
|
|
NM_032444.4(SLX4):c.3830G>A (p.Ser1277Asn)
|
rs1596520868
|
|
NM_032444.4(SLX4):c.4088C>A (p.Ser1363Ter)
|
rs1596520443
|
|
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp)
|
rs137976282
|
|
NM_032444.4(SLX4):c.4391_4403del (p.Ser1464fs)
|
rs1596519879
|
|
NM_032444.4(SLX4):c.4405del (p.Ser1469fs)
|
rs1596519854
|
|
NM_032444.4(SLX4):c.4881del (p.Thr1628fs)
|
rs1596515638
|
|
NM_032520.5(GNPTG):c.735C>A (p.Cys245Ter)
|
rs2141864418
|
|
NM_032545.4(CFC1):c.433G>A (p.Ala145Thr)
|
rs199715380
|
|
NM_032638.5(GATA2):c.1045T>C (p.Cys349Arg)
|
rs1576745260
|
|
NM_032638.5(GATA2):c.1046G>A (p.Cys349Tyr)
|
rs1576745256
|
|
NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter)
|
rs1553770510
|
|
NM_032638.5(GATA2):c.661A>C (p.Met221Leu)
|
rs1252930387
|
|
NM_032638.5(GATA2):c.831del (p.Phe278fs)
|
rs1576748378
|
|
NM_032656.4(DHX37):c.346_347del (p.Thr116fs)
|
rs2135969716
|
|
NM_032737.4(LMNB2):c.1275G>C (p.Leu425Phe)
|
rs1971785327
|
|
NM_032776.3(JMJD1C):c.4962A>T (p.Gln1654His)
|
rs1846669314
|
|
NM_032776.3(JMJD1C):c.5309T>C (p.Ile1770Thr)
|
rs1361979736
|
|
NM_032776.3(JMJD1C):c.7168C>G (p.Leu2390Val)
|
rs767321856
|
|
NM_032806.6(POMGNT2):c.607_618del (p.Phe203_Tyr206del)
|
rs774277094
|
|
NM_032856.5(WDR73):c.710dup (p.Gly238fs)
|
rs1282630153
|
|
NM_032856.5(WDR73):c.926ATGGAACACGGAGCCAAG[1] (p.309DGTRSQ[1])
|
rs11267906
|
|
NM_032861.4(SERAC1):c.21C>G (p.Cys7Trp)
|
rs139301835
|
|
NM_032977.4(CASP10):c.1321G>A (p.Ala441Thr)
|
rs760580885
|
|
NM_032977.4(CASP10):c.1504del (p.Gln502fs)
|
rs2126062115
|
|
NM_033004.4(NLRP1):c.4181C>A (p.Thr1394Lys)
|
rs1597390369
|
|
NM_033100.4(CDHR1):c.1782+1del
|
rs1589307705
|
|
NM_033100.4(CDHR1):c.2197G>T (p.Val733Phe)
|
rs1589309412
|
|
NM_033100.4(CDHR1):c.348+5G>T
|
rs1412093692
|
|
NM_033109.5(PNPT1):c.526G>A (p.Ala176Thr)
|
rs1365308037
|
|
NM_033163.5(FGF8):c.506C>T (p.Ala169Val)
|
rs1589809739
|
|
NM_033337.3(CAV3):c.10_17del (p.Glu4fs)
|
rs778914298
|
|
NM_033337.3(CAV3):c.134T>A (p.Ile45Asn)
|
rs1553614409
|
|
NM_033343.4(LHX4):c.608T>G (p.Val203Gly)
|
rs201275928
|
|
NM_033343.4(LHX4):c.724_726del (p.Lys242del)
|
rs771109452
|
|
NM_033360.4(KRAS):c.189G>T (p.Glu63Asp)
|
rs1592808357
|
|
NM_033380.3(COL4A5):c.1138G>T (p.Gly380Cys)
|
rs2066342908
|
|
NM_033380.3(COL4A5):c.1588-10C>G
|
rs1603290097
|
|
NM_033380.3(COL4A5):c.1817G>A (p.Gly606Glu)
|
rs2147813326
|
|
NM_033380.3(COL4A5):c.2005G>T (p.Gly669Cys)
|
rs281874684
|
|
NM_033380.3(COL4A5):c.2395+2T>A
|
rs1603293639
|
|
NM_033380.3(COL4A5):c.2722G>A (p.Gly908Arg)
|
rs281874703
|
|
NM_033380.3(COL4A5):c.2999G>T (p.Gly1000Val)
|
rs281874709
|
|
NM_033380.3(COL4A5):c.321+2T>G
|
rs1603279005
|
|
NM_033380.3(COL4A5):c.379A>G (p.Thr127Ala)
|
rs2147746841
|
|
NM_033380.3(COL4A5):c.412G>T (p.Gly138Cys)
|
rs767619131
|
|
NM_033380.3(COL4A5):c.4599C>T (p.Cys1533=)
|
rs1603326524
|
|
NM_033380.3(COL4A5):c.4822-1G>T
|
rs1603328372
|
|
NM_033409.4(SLC52A3):c.446G>A (p.Gly149Asp)
|
rs749668781
|
|
NM_033409.4(SLC52A3):c.639C>G (p.Tyr213Ter)
|
rs778363575
|
|
NM_033453.4(ITPA):c.124+2T>C
|
rs1408254396
|
|
NM_033517.1(SHANK3):c.3424_3425del (p.Leu1142fs)
|
rs1555910143
|
|
NM_033629.6(TREX1):c.182C>A (p.Pro61Gln)
|
rs777034646
|
|
NM_052867.4(NALCN):c.3955-50CT[11]
|
rs34229756
|
|
NM_052874.5(STX1B):c.686_688del (p.Ile229_Asp230delinsAsn)
|
rs1596714579
|
|
NM_052876.4(NACC1):c.979G>C (p.Ala327Pro)
|
rs759246551
|
|
NM_052989.3(IFT122):c.1493T>C (p.Leu498Pro)
|
rs2108328020
|
|
NM_053274.3(GLMN):c.1083del (p.Thr363fs)
|
rs1570898051
|
|
NM_054012.4(ASS1):c.323G>T (p.Arg108Leu)
|
rs35269064
|
|
NM_054012.4(ASS1):c.991T>C (p.Cys331Arg)
|
rs1055308437
|
|
NM_054021.2(GPR101):c.924G>C (p.Glu308Asp)
|
rs73637412
|
|
NM_054027.6(ANKH):c.1126TTC[1] (p.Phe377del)
|
rs121908405
|
|
NM_057175.5(NAA15):c.569G>A (p.Ser190Asn)
|
rs1560966806
|
|
NM_057176.3(BSND):c.784del (p.Ala262fs)
|
rs2100209749
|
|
NM_058172.6(ANTXR2):c.1069G>C (p.Ala357Pro)
|
rs12647691
|
|
NM_058179.4(PSAT1):c.121+5G>A
|
rs372232840
|
|
NM_058195.4(CDKN2A):c.194-3653G>A
|
rs1800586
|
|
NM_058195.4(CDKN2A):c.194-3653G>T
|
rs1800586
|
|
NM_058195.4(CDKN2A):c.194-3834C>G
|
rs917599759
|
|
NM_058195.4(CDKN2A):c.194-3853_194-3852insGCG
|
rs1587341124
|
|
NM_058195.4(CDKN2A):c.194-3854_194-3853insGTG
|
rs1587341128
|
|
NM_058216.3(RAD51C):c.1000del (p.Glu334fs)
|
rs1567817415
|
|
NM_058216.3(RAD51C):c.1026+5_1026+7del
|
rs587781410
|
|
NM_058216.3(RAD51C):c.1042G>A (p.Asp348Asn)
|
rs1555605533
|
|
NM_058216.3(RAD51C):c.115C>T (p.Leu39=)
|
rs759149207
|
|
NM_058216.3(RAD51C):c.127C>T (p.Pro43Ser)
|
rs1442559963
|
|
NM_058216.3(RAD51C):c.145+15T>C
|
rs780116924
|
|
NM_058216.3(RAD51C):c.16T>G (p.Phe6Val)
|
rs749498443
|
|
NM_058216.3(RAD51C):c.262C>T (p.Leu88=)
|
rs786201383
|
|
NM_058216.3(RAD51C):c.32A>G (p.Gln11Arg)
|
rs730881937
|
|
NM_058216.3(RAD51C):c.335G>C (p.Gly112Ala)
|
rs370212314
|
|
NM_058216.3(RAD51C):c.386T>C (p.Val129Ala)
|
rs876660641
|
|
NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr)
|
rs767796996
|
|
NM_058216.3(RAD51C):c.461A>G (p.Glu154Gly)
|
rs758847241
|
|
NM_058216.3(RAD51C):c.705+3A>G
|
rs878855179
|
|
NM_058216.3(RAD51C):c.724G>A (p.Asp242Asn)
|
rs876659188
|
|
NM_058216.3(RAD51C):c.760G>T (p.Asp254Tyr)
|
rs1567799662
|
|
NM_058216.3(RAD51C):c.797C>T (p.Ala266Val)
|
rs1555599239
|
|
NM_058216.3(RAD51C):c.837+2T>C
|
rs1567799943
|
|
NM_058216.3(RAD51C):c.853C>T (p.Gln285Ter)
|
rs1598504016
|
|
NM_058216.3(RAD51C):c.86C>T (p.Ser29Phe)
|
rs876659683
|
|
NM_058216.3(RAD51C):c.890_899del (p.Leu297fs)
|
rs1555602141
|
|
NM_058216.3(RAD51C):c.904G>A (p.Gly302Arg)
|
rs1555602158
|
|
NM_058216.3(RAD51C):c.912T>G (p.Ser304Arg)
|
rs876659009
|
|
NM_058216.3(RAD51C):c.919C>T (p.His307Tyr)
|
rs2049021432
|
|
NM_058246.4(DNAJB6):c.271T>A (p.Phe91Ile)
|
rs869320701
|
|
NM_058246.4(DNAJB6):c.688A>G (p.Asn230Asp)
|
rs1584927997
|
|
NM_078480.3(PUF60):c.208-1G>A
|
rs1229324113
|
|
NM_078480.3(PUF60):c.219del (p.Lys72_Tyr73insTer)
|
rs1586590135
|
|
NM_078480.3(PUF60):c.271C>T (p.Gln91Ter)
|
rs1464053660
|
|
NM_078480.3(PUF60):c.382_383del (p.Met128fs)
|
rs2130258214
|
|
NM_078629.4(MSL3):c.469GAA[1] (p.Glu158del)
|
rs2147244252
|
|
NM_080425.4(GNAS):c.2069-6389CGGCG[3]
|
rs143800311
|
|
NM_080425.4(GNAS):c.803C>G (p.Pro268Arg)
|
rs2145566990
|
|
NM_080669.6(SLC46A1):c.981_982del (p.Tyr327_Cys328delinsTer)
|
rs1597834560
|
|
NM_080680.3(COL11A2):c.1292del (p.Pro431fs)
|
rs1583351636
|
|
NM_080680.3(COL11A2):c.4288G>T (p.Asp1430Tyr)
|
rs985479138
|
|
NM_080680.3(COL11A2):c.67dup (p.Ala23fs)
|
rs1583394539
|
|
NM_080916.3(DGUOK):c.287T>C (p.Leu96Pro)
|
rs587780587
|
|
NM_080916.3(DGUOK):c.707+2T>G
|
rs1573582059
|
|
NM_130466.4(UBE3B):c.2923-1G>T
|
rs1409120511
|
|
NM_130797.4(DPP6):c.2304+2T>C
|
rs931703283
|
|
NM_130797.4(DPP6):c.421T>C (p.Phe141Leu)
|
rs571883604
|
|
NM_130811.4(SNAP25):c.170T>C (p.Leu57Pro)
|
rs2123120184
|
|
NM_130811.4(SNAP25):c.553G>C (p.Ala185Pro)
|
rs1600807788
|
|
NM_130837.3(OPA1):c.1051G>C (p.Asp351His)
|
rs1577228080
|
|
NM_130837.3(OPA1):c.1288T>G (p.Cys430Gly)
|
rs1313421147
|
|
NM_130837.3(OPA1):c.1454A>T (p.Asn485Ile)
|
rs1577243012
|
|
NM_130837.3(OPA1):c.1511C>G (p.Thr504Arg)
|
rs1577244261
|
|
NM_130837.3(OPA1):c.1511del (p.Thr504fs)
|
rs794729196
|
|
NM_130837.3(OPA1):c.2315_2316del (p.Phe772fs)
|
rs1577297114
|
|
NM_130837.3(OPA1):c.2983+6T>A
|
rs1577335678
|
|
NM_130837.3(OPA1):c.52G>C (p.Val18Leu)
|
rs2108864324
|
|
NM_130839.5(UBE3A):c.1066C>T (p.Arg356Ter)
|
rs2080238010
|
|
NM_130839.5(UBE3A):c.1405_1408del (p.Glu469fs)
|
rs587784512
|
|
NM_130839.5(UBE3A):c.1577G>A (p.Arg526His)
|
rs1064795012
|
|
NM_130839.5(UBE3A):c.1976T>G (p.Leu659Ter)
|
rs1595591164
|
|
NM_130839.5(UBE3A):c.2198G>T (p.Gly733Val)
|
rs1595572384
|
|
NM_130839.5(UBE3A):c.2498+1G>A
|
rs2152514807
|
|
NM_130839.5(UBE3A):c.2517_2553dup (p.Lys852delinsLeuLeuTer)
|
rs1595362860
|
|
NM_130839.5(UBE3A):c.67C>T (p.Arg23Ter)
|
rs1490279918
|
|
NM_130839.5(UBE3A):c.826C>T (p.Arg276Ter)
|
rs997044541
|
|
NM_133181.4(EPS8L3):c.409G>C (p.Glu137Gln)
|
rs1157241634
|
|
NM_133259.4(LRPPRC):c.7G>A (p.Ala3Thr)
|
rs200686732
|
|
NM_133379.5(TTN):c.13915G>T (p.Glu4639Ter)
|
rs1430676547
|
|
NM_133433.4(NIPBL):c.226del (p.His76fs)
|
rs1580323151
|
|
NM_133433.4(NIPBL):c.3316C>T (p.Arg1106Ter)
|
rs2149668942
|
|
NM_133433.4(NIPBL):c.5329-15A>G
|
rs587783968
|
|
NM_133433.4(NIPBL):c.6275T>G (p.Leu2092Arg)
|
rs1579557913
|
|
NM_133433.4(NIPBL):c.6763+5G>A
|
rs2149737162
|
|
NM_133433.4(NIPBL):c.7307C>T (p.Ala2436Val)
|
rs2149750114
|
|
NM_134261.3(RORA):c.386G>A (p.Arg129Gln)
|
rs1595889010
|
|
NM_134261.3(RORA):c.994C>A (p.Gln332Lys)
|
rs2141276736
|
|
NM_138425.4(C12orf57):c.182del (p.Ile61fs)
|
rs1591674823
|
|
NM_138459.5(NUS1):c.541+10A>C
|
rs1051471000
|
|
NM_138459.5(NUS1):c.692-1G>A
|
rs1582477100
|
|
NM_138572.3(TAF8):c.719_720del (p.Thr240fs)
|
rs2127459499
|
|
NM_138572.3(TAF8):c.806_809del (p.Asn269fs)
|
rs2127464524
|
|
NM_138576.4(BCL11B):c.2448_2461dup (p.Glu821fs)
|
rs2139753037
|
|
NM_138615.3(DHX30):c.1390A>G (p.Thr464Ala)
|
rs1576517675
|
|
NM_138615.3(DHX30):c.2344C>T (p.Arg782Trp)
|
rs753242774
|
|
NM_138615.3(DHX30):c.2387C>G (p.Pro796Arg)
|
rs2037707020
|
|
NM_138691.3(TMC1):c.2163G>C (p.Lys721Asn)
|
rs1588105861
|
|
NM_138694.4(PKHD1):c.1180G>A (p.Ala394Thr)
|
rs1582024305
|
|
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del)
|
rs1554217913
|
|
NM_138694.4(PKHD1):c.1693+2T>G
|
rs1581999471
|
|
NM_138694.4(PKHD1):c.2524A>C (p.Thr842Pro)
|
rs1203260419
|
|
NM_138694.4(PKHD1):c.2946del (p.Cys983fs)
|
rs1581910835
|
|
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala)
|
rs267601070
|
|
NM_138694.4(PKHD1):c.7029C>A (p.Tyr2343Ter)
|
rs202223718
|
|
NM_138694.4(PKHD1):c.8441-5A>G
|
rs922193595
|
|
NM_138694.4(PKHD1):c.9719G>A (p.Arg3240Gln)
|
rs146649803
|
|
NM_138711.6(PPARG):c.1181-2A>T
|
rs2125323710
|
|
NM_138711.6(PPARG):c.1184G>A (p.Arg395His)
|
rs2051760352
|
|
NM_138715.3(MSR1):c.877C>T (p.Arg293Ter)
|
rs41341748
|
|
NM_138927.4(SON):c.2919dup (p.Pro974fs)
|
rs1601263223
|
|
NM_138927.4(SON):c.384del (p.Lys128fs)
|
rs778418096
|
|
NM_138927.4(SON):c.4151_4174del (p.Leu1384_Val1391del)
|
rs769691894
|
|
NM_139027.6(ADAMTS13):c.2863dup (p.Trp955fs)
|
rs1588198044
|
|
NM_139058.3(ARX):c.1105G>A (p.Glu369Lys)
|
rs104894746
|
|
NM_139058.3(ARX):c.1369_1391del (p.Gly457fs)
|
rs1601946502
|
|
NM_139058.3(ARX):c.1414_1428del (p.Arg472_Phe476del)
|
rs1601946492
|
|
NM_139058.3(ARX):c.1449-8_1453del
|
rs2147318823
|
|
NM_139058.3(ARX):c.1593_1620del (p.Ser531fs)
|
rs1601945599
|
|
NM_139058.3(ARX):c.1612A>G (p.Lys538Glu)
|
rs1064794843
|
|
NM_139058.3(ARX):c.2T>G (p.Met1Arg)
|
rs2147325502
|
|
NM_139058.3(ARX):c.306GGC[11] (p.Ala115dup)
|
rs387906492
|
|
NM_139058.3(ARX):c.578G>C (p.Gly193Ala)
|
rs2147324028
|
|
NM_139276.3(STAT3):c.1859C>T (p.Thr620Ile)
|
rs1567708034
|
|
NM_139276.3(STAT3):c.2132T>G (p.Ile711Ser)
|
rs1598381121
|
|
NM_144573.4(NEXN):c.1252-1G>A
|
rs1650708891
|
|
NM_144573.4(NEXN):c.1399dup (p.Ile467fs)
|
rs1365488625
|
|
NM_144573.4(NEXN):c.1946GAG[1] (p.Gly650del)
|
rs397517853
|
|
NM_144599.5(NIPA1):c.24GGC[7] (p.Ala16del)
|
rs531550505
|
|
NM_144670.6(A2ML1):c.2360T>C (p.Phe787Ser)
|
rs2136879278
|
|
NM_144672.4(OTOA):c.1320+2T>C
|
rs1567381218
|
|
NM_144687.4(NLRP12):c.2072+2_2072+3insTT
|
rs104895565
|
|
NM_144773.4(PROKR2):c.114TGAGGA[3] (p.39ED[3])
|
rs746909168
|
|
NM_144773.4(PROKR2):c.253C>T (p.Arg85Cys)
|
rs141090506
|
|
NM_144991.3(TSPEAR):c.1039C>T (p.Arg347Cys)
|
rs143814541
|
|
NM_144997.7(FLCN):c.424TTC[1] (p.Phe143del)
|
rs764153620
|
|
NM_144997.7(FLCN):c.49dup (p.Arg17fs)
|
rs758385503
|
|
NM_144997.7(FLCN):c.779+6G>A
|
rs778530618
|
|
NM_145068.4(TRPV3):c.1703G>T (p.Gly568Val)
|
rs1057517884
|
|
NM_145166.4(ZBTB47):c.407C>T (p.Pro136Leu)
|
rs1710670079
|
|
NM_145239.3(PRRT2):c.1021T>C (p.Ter341Arg)
|
rs1403034524
|
|
NM_145239.3(PRRT2):c.629del (p.Pro210fs)
|
rs730882067
|
|
NM_145239.3(PRRT2):c.629dup (p.Ala211fs)
|
rs730882067
|
|
NM_145239.3(PRRT2):c.647C>G (p.Pro216Arg)
|
rs76335820
|
|
NM_145239.3(PRRT2):c.649del (p.Arg217fs)
|
rs587778771
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_145239.3(PRRT2):c.718C>T (p.Arg240Ter)
|
rs387907126
|
|
NM_145239.3(PRRT2):c.748C>T (p.Gln250Ter)
|
rs397514579
|
|
NM_145239.3(PRRT2):c.922C>T (p.Arg308Cys)
|
rs932713001
|
|
NM_145239.3(PRRT2):c.971del (p.Gly324fs)
|
rs796052941
|
|
NM_145239.3(PRRT2):c.971dup (p.Val325fs)
|
rs796052941
|
|
NM_145331.3(MAP3K7):c.145GTT[1] (p.Val50del)
|
rs886039236
|
|
NM_145861.4(EDARADD):c.161-2A>G
|
rs1553267282
|
|
NM_145868.2(ANXA11):c.118G>T (p.Asp40Tyr)
|
rs368751524
|
|
NM_152263.4(TPM3):c.43G>A (p.Asp15Asn)
|
rs1553251644
|
|
NM_152263.4(TPM3):c.7G>C (p.Glu3Gln)
|
rs1571456678
|
|
NM_152296.5(ATP1A3):c.1036T>C (p.Cys346Arg)
|
rs1599719534
|
|
NM_152296.5(ATP1A3):c.108G>A (p.Met36Ile)
|
rs1599725994
|
|
NM_152296.5(ATP1A3):c.1549G>C (p.Glu517Gln)
|
rs782583311
|
|
NM_152296.5(ATP1A3):c.1806+3G>A
|
rs2145964767
|
|
NM_152296.5(ATP1A3):c.1838C>T (p.Thr613Met)
|
|
|
NM_152296.5(ATP1A3):c.2195C>A (p.Ser732Tyr)
|
rs1599712523
|
|
NM_152296.5(ATP1A3):c.2225A>T (p.Asp742Val)
|
rs2145959393
|
|
NM_152296.5(ATP1A3):c.2252G>A (p.Gly751Glu)
|
rs1599712456
|
|
NM_152296.5(ATP1A3):c.2767G>C (p.Asp923His)
|
rs267606670
|
|
NM_152296.5(ATP1A3):c.2953A>G (p.Ser985Gly)
|
rs1599702734
|
|
NM_152296.5(ATP1A3):c.910G>A (p.Gly304Arg)
|
rs1032312899
|
|
NM_152296.5(ATP1A3):c.973G>C (p.Gly325Arg)
|
rs2145977694
|
|
NM_152336.4(AGBL1):c.3323+1G>A
|
rs79072327
|
|
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln)
|
rs727503962
|
|
NM_152424.4(AMER1):c.1384del (p.Glu462fs)
|
rs1602067633
|
|
NM_152443.3(RDH12):c.125T>C (p.Val42Ala)
|
rs1594865036
|
|
NM_152443.3(RDH12):c.178G>C (p.Ala60Pro)
|
rs749038454
|
|
NM_152443.3(RDH12):c.325G>C (p.Ala109Pro)
|
rs1594865434
|
|
NM_152443.3(RDH12):c.658+1G>A
|
rs387906272
|
|
NM_152490.5(B3GALNT2):c.113-1376C>T
|
rs1572560402
|
|
NM_152490.5(B3GALNT2):c.113-1439dup
|
rs1572560624
|
|
NM_152564.5(VPS13B):c.11429_11432dup (p.Arg3812fs)
|
rs1588810695
|
|
NM_152564.5(VPS13B):c.11750_11752dup (p.Asp3917dup)
|
rs386834068
|
|
NM_152564.5(VPS13B):c.2047del (p.Gln683fs)
|
rs386834074
|
|
NM_152564.5(VPS13B):c.9331-1G>T
|
rs386834119
|
|
NM_152564.5(VPS13B):c.9331-2_9331-1del
|
rs764288792
|
|
NM_152564.5(VPS13B):c.9337_9338del (p.Arg3113fs)
|
rs754443525
|
|
NM_152564.5(VPS13B):c.9797A>G (p.His3266Arg)
|
rs2130866481
|
|
NM_152594.3(SPRED1):c.1149_1152del (p.Gly385fs)
|
rs1595763925
|
|
NM_152594.3(SPRED1):c.52C>T (p.Arg18Ter)
|
rs750777752
|
|
NM_152641.4(ARID2):c.2254C>A (p.Gln752Lys)
|
rs376582344
|
|
NM_152641.4(ARID2):c.5008G>A (p.Glu1670Lys)
|
rs201419229
|
|
NM_152641.4(ARID2):c.5346T>G (p.Tyr1782Ter)
|
rs1592145571
|
|
NM_152703.5(SAMD9L):c.2956C>T (p.Arg986Cys)
|
rs1554341158
|
|
NM_152743.4(BRAT1):c.1857G>A (p.Trp619Ter)
|
rs794729222
|
|
NM_152906.7(TANGO2):c.95G>A (p.Arg32Gln)
|
rs896249235
|
|
NM_153006.3(NAGS):c.1313del (p.Gly438fs)
|
rs1597866458
|
|
NM_153006.3(NAGS):c.424G>T (p.Glu142Ter)
|
rs1282296585
|
|
NM_153240.5(NPHP3):c.394-89AT[7]
|
rs10590809
|
|
NM_153252.5(BRWD3):c.1690C>T (p.Leu564Phe)
|
rs1602352162
|
|
NM_153252.5(BRWD3):c.3865-119TA[9]
|
rs3029738
|
|
NM_153460.4(IL17RC):c.622+115ATTC[5]
|
rs34198416
|
|
NM_153704.6(TMEM67):c.2201_2208dup (p.Ala737fs)
|
rs1586074742
|
|
NM_153704.6(TMEM67):c.2485C>G (p.Gln829Glu)
|
rs1586090222
|
|
NM_153816.6(SNX14):c.1075G>T (p.Ala359Ser)
|
rs146849758
|
|
NM_153816.6(SNX14):c.1608+1G>T
|
rs749656742
|
|
NM_170606.3(KMT2C):c.162-1G>T
|
rs1177551329
|
|
NM_170606.3(KMT2C):c.2532+1del
|
rs2129163740
|
|
NM_170606.3(KMT2C):c.4507+5A>G
|
rs2129129571
|
|
NM_170606.3(KMT2C):c.4602G>T (p.Gln1534His)
|
rs992987667
|
|
NM_170606.3(KMT2C):c.8216A>C (p.Glu2739Ala)
|
rs2129114460
|
|
NM_170606.3(KMT2C):c.8431T>C (p.Ser2811Pro)
|
rs896573950
|
|
NM_170675.5(MEIS2):c.934_937del (p.Leu312fs)
|
rs1595790647
|
|
NM_170707.4(LMNA):c.1391T>A (p.Met464Lys)
|
rs1281896947
|
|
NM_170707.4(LMNA):c.1583C>A (p.Thr528Lys)
|
rs57629361
|
|
NM_170707.4(LMNA):c.1744C>T (p.Arg582Cys)
|
rs918645468
|
|
NM_170707.4(LMNA):c.1969-2A>T
|
rs1572370360
|
|
NM_170707.4(LMNA):c.936+2T>C
|
rs797045011
|
|
NM_172002.5(HSCB):c.-37C>T
|
rs1269754581
|
|
NM_172107.4(KCNQ2):c.1050C>A (p.Asn350Lys)
|
rs1371059392
|
|
NM_172107.4(KCNQ2):c.1118+1G>A
|
rs397507449
|
|
NM_172107.4(KCNQ2):c.1149-1G>T
|
rs1600714727
|
|
NM_172107.4(KCNQ2):c.1632-1G>T
|
rs118192233
|
|
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp)
|
rs759584387
|
|
NM_172107.4(KCNQ2):c.1956dup (p.Thr653fs)
|
rs1601545088
|
|
NM_172107.4(KCNQ2):c.1997C>T (p.Pro666Leu)
|
rs762130930
|
|
NM_172107.4(KCNQ2):c.3G>A (p.Met1Ile)
|
rs866273848
|
|
NM_172107.4(KCNQ2):c.601C>T (p.Arg201Cys)
|
rs796052623
|
|
NM_172107.4(KCNQ2):c.613A>G (p.Ile205Val)
|
rs1057516087
|
|
NM_172107.4(KCNQ2):c.617T>C (p.Leu206Pro)
|
rs1339542565
|
|
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp)
|
rs118192203
|
|
NM_172107.4(KCNQ2):c.638G>T (p.Arg213Leu)
|
rs397514581
|
|
NM_172107.4(KCNQ2):c.649A>C (p.Thr217Pro)
|
rs1057516089
|
|
NM_172107.4(KCNQ2):c.696_698dup (p.Val233dup)
|
rs1600767259
|
|
NM_172107.4(KCNQ2):c.698_699insACC (p.Val233_Thr234insPro)
|
rs794729197
|
|
NM_172107.4(KCNQ2):c.700A>G (p.Thr234Ala)
|
rs1057516091
|
|
NM_172107.4(KCNQ2):c.716G>T (p.Gly239Val)
|
rs796052630
|
|
NM_172107.4(KCNQ2):c.761A>C (p.Glu254Ala)
|
rs794727739
|
|
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del)
|
rs118192212
|
|
NM_172245.4(CSF2RA):c.920_921dup (p.Ser308fs)
|
rs1196937077
|
|
NM_172250.3(MMAA):c.397C>T (p.Gln133Ter)
|
rs754545360
|
|
NM_172349.5(NSD1):c.-151+112_-151+113del
|
rs1581082075
|
|
NM_173630.4(RTTN):c.725_727dup (p.Gly242dup)
|
rs58913700
|
|
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)
|
rs606231128
|
|
NM_173660.5(DOK7):c.1143del (p.Glu382fs)
|
rs606231132
|
|
NM_173660.5(DOK7):c.1263dup (p.Ser422fs)
|
rs606231129
|
|
NM_173660.5(DOK7):c.325G>A (p.Gly109Ser)
|
rs762952740
|
|
NM_173660.5(DOK7):c.957dup (p.Lys320fs)
|
rs794727884
|
|
NM_174878.3(CLRN1):c.128G>T (p.Gly43Val)
|
rs933370216
|
|
NM_174905.4(FAM98C):c.691CTC[2] (p.Leu233del)
|
rs137896913
|
|
NM_174936.4(PCSK9):c.1484G>A (p.Arg495Gln)
|
rs370574590
|
|
NM_174936.4(PCSK9):c.1958C>T (p.Thr653Met)
|
|
|
NM_174936.4(PCSK9):c.2072T>G (p.Leu691Arg)
|
rs748956735
|
|
NM_174936.4(PCSK9):c.45GCT[10] (p.Leu21_Leu23dup)
|
rs35574083
|
|
NM_174936.4(PCSK9):c.580C>T (p.Arg194Trp)
|
rs200027662
|
|
NM_174936.4(PCSK9):c.593G>A (p.Gly198Asp)
|
rs1053394659
|
|
NM_174936.4(PCSK9):c.94G>A (p.Glu32Lys)
|
|
|
NM_175914.5(HNF4A):c.48C>G (p.Tyr16Ter)
|
rs2146127862
|
|
NM_175914.5(HNF4A):c.944TGC[4] (p.Leu319del)
|
rs776489992
|
|
NM_175914.5(HNF4A):c.950T>G (p.Leu317Arg)
|
rs2146468685
|
|
NM_176787.5(PIGN):c.1517G>A (p.Trp506Ter)
|
rs2146506059
|
|
NM_176787.5(PIGN):c.160C>T (p.Leu54Phe)
|
rs1599663316
|
|
NM_176787.5(PIGN):c.1694G>T (p.Arg565Leu)
|
rs201835155
|
|
NM_176787.5(PIGN):c.283C>T (p.Arg95Trp)
|
rs558341655
|
|
NM_176787.5(PIGN):c.491_492del (p.Glu164fs)
|
rs748817187
|
|
NM_177400.3(NKX6-2):c.599G>A (p.Arg200Gln)
|
rs1008088032
|
|
NM_177438.3(DICER1):c.*30C>A
|
rs749282967
|
|
NM_177438.3(DICER1):c.*35C>A
|
rs756294748
|
|
NM_177438.3(DICER1):c.3848T>C (p.Ile1283Thr)
|
rs754352488
|
|
NM_177550.5(SLC13A5):c.103-1G>A
|
rs1597677742
|
|
NM_177550.5(SLC13A5):c.1276-1G>A
|
rs1597657030
|
|
NM_177550.5(SLC13A5):c.272T>C (p.Leu91Pro)
|
rs1555543400
|
|
NM_177559.3(CSNK2A1):c.140G>A (p.Arg47Gln)
|
rs869312845
|
|
NM_177559.3(CSNK2A1):c.239G>A (p.Arg80His)
|
rs1057518092
|
|
NM_177559.3(CSNK2A1):c.530G>A (p.Gly177Asp)
|
rs2122521881
|
|
NM_177924.5(ASAH1):c.216+46TATTT[3]
|
rs35875004
|
|
NM_177965.4(CFAP418):c.94G>A (p.Gly32Ser)
|
rs779716988
|
|
NM_177987.3(TUBB8):c.1045G>A (p.Val349Ile)
|
rs572455524
|
|
NM_177987.3(TUBB8):c.938C>T (p.Ala313Val)
|
rs199826048
|
|
NM_178011.5(LRRTM3):c.311C>T (p.Ala104Val)
|
rs1589435465
|
|
NM_178012.5(TUBB2B):c.1138C>T (p.Arg380Cys)
|
rs1757271243
|
|
NM_178014.4(TUBB):c.266A>C (p.Asn89Thr)
|
rs1179402804
|
|
NM_178014.4(TUBB):c.45G>C (p.Gln15His)
|
rs1776147010
|
|
NM_178172.6(GPIHBP1):c.182-1G>T
|
rs2130672651
|
|
NM_178857.6(RP1L1):c.1231C>T (p.Pro411Ser)
|
rs754785148
|
|
NM_178857.6(RP1L1):c.3956_3957insAAGAAGAGAG (p.Val1320fs)
|
rs773894295
|
|
NM_178857.6(RP1L1):c.3970_3971insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1323_Glu1324insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu)
|
rs369606728
|
|
NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly)
|
rs4240659
|
|
NM_178857.6(RP1L1):c.4018_4019insGGACTAAAACAGAAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGG (p.Glu1339_Glu1340insGlyThrLysThrGluGluGlyLeuGlnGluGluGlyValGlnLeuGlu)
|
rs1585963477
|
|
NM_178857.6(RP1L1):c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGAGGGTGCAGTTAGAGG (p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGluGluArgValGlnLeuGlu)
|
rs1585963467
|
|
NM_178857.6(RP1L1):c.4018_4019insGGACTAAAGTAATAGAAGGGCTGCAAGAAGAGGGGGTGCAGTTAGAGG (p.Glu1339_Glu1340insGlyThrLysValIleGluGlyLeuGlnGluGluGlyValGlnLeuGlu)
|
rs1585963475
|
|
NM_178863.5(KCTD13):c.790del (p.Thr263_Leu264insTer)
|
rs1245379191
|
|
NM_181332.3(NLGN4X):c.205C>T (p.Pro69Ser)
|
rs915922545
|
|
NM_181458.4(PAX3):c.239A>G (p.His80Arg)
|
rs1574771535
|
|
NM_181458.4(PAX3):c.792+2T>C
|
rs2106094950
|
|
NM_181458.4(PAX3):c.879dup (p.Phe294fs)
|
rs1553572967
|
|
NM_181486.4(TBX5):c.538del (p.Gln180fs)
|
rs1593876058
|
|
NM_181486.4(TBX5):c.593dup (p.Asn198fs)
|
|
|
NM_181523.3(PIK3R1):c.1425+1G>A
|
rs587777709
|
|
NM_181523.3(PIK3R1):c.916+1G>A
|
rs2112197421
|
|
NM_181672.3(OGT):c.531+6T>C
|
rs2147672814
|
|
NM_181882.3(PRX):c.1552_1558del (p.Pro518fs)
|
rs2079443119
|
|
NM_181882.3(PRX):c.3198del (p.Phe1066fs)
|
rs1599651549
|
|
NM_181882.3(PRX):c.3379A>T (p.Lys1127Ter)
|
rs964195568
|
|
NM_181882.3(PRX):c.3587del (p.Gly1196fs)
|
rs1317590341
|
|
NM_181882.3(PRX):c.4059GGA[6] (p.Glu1361del)
|
rs139624657
|
|
NM_181882.3(PRX):c.4172G>A (p.Arg1391Gln)
|
rs917161355
|
|
NM_182641.4(BPTF):c.255dup (p.Ser86fs)
|
rs1598050118
|
|
NM_182641.4(BPTF):c.2598dup (p.Glu867fs)
|
rs753044214
|
|
NM_182641.4(BPTF):c.581T>G (p.Phe194Cys)
|
rs1292339242
|
|
NM_182649.2(PCNA):c.443G>C (p.Cys148Ser)
|
rs1274412848
|
|
NM_182895.5(SCARF2):c.915C>G (p.Cys305Trp)
|
rs1241075295
|
|
NM_182914.3(SYNE2):c.1186G>T (p.Glu396Ter)
|
rs1405666656
|
|
NM_182914.3(SYNE2):c.4768G>T (p.Val1590Phe)
|
rs1018808319
|
|
NM_182931.3(KMT2E):c.1776_1780del (p.Lys593fs)
|
rs1562927768
|
|
NM_182931.3(KMT2E):c.3005G>C (p.Ser1002Thr)
|
rs780786453
|
|
NM_182931.3(KMT2E):c.3070C>T (p.Gln1024Ter)
|
rs1562931936
|
|
NM_182931.3(KMT2E):c.3339A>C (p.Arg1113Ser)
|
rs938243662
|
|
NM_182943.3(PLOD2):c.1406G>A (p.Gly469Glu)
|
rs964199801
|
|
NM_182961.4(SYNE1):c.4534C>T (p.Gln1512Ter)
|
rs988770583
|
|
NM_182978.4(GNAL):c.764C>T (p.Thr255Ile)
|
rs1598436429
|
|
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser)
|
rs398124560
|
|
NM_183050.4(BCKDHB):c.1039-2A>G
|
rs2128020522
|
|
NM_183050.4(BCKDHB):c.478A>T (p.Ile160Phe)
|
rs1582275277
|
|
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_183075.3(CYP2U1):c.1210_1211del (p.Glu404fs)
|
rs767024102
|
|
NM_183357.3(ADCY5):c.-1dup (p.Met1fs)
|
rs905351643
|
|
NM_183357.3(ADCY5):c.1579C>A (p.Pro527Thr)
|
rs910314734
|
|
NM_183357.3(ADCY5):c.175G>A (p.Gly59Arg)
|
rs1184128181
|
|
NM_183357.3(ADCY5):c.2072A>T (p.Lys691Met)
|
rs1941427629
|
|
NM_183357.3(ADCY5):c.2088+1G>T
|
rs797045002
|
|
NM_183357.3(ADCY5):c.2278C>T (p.Arg760Ter)
|
rs1553724606
|
|
NM_183357.3(ADCY5):c.2498A>G (p.Asn833Ser)
|
rs2108270287
|
|
NM_183357.3(ADCY5):c.3074A>C (p.Glu1025Ala)
|
rs1576526285
|
|
NM_183357.3(ADCY5):c.3074A>G (p.Glu1025Gly)
|
rs1576526285
|
|
NM_183357.3(ADCY5):c.3180T>G (p.Asp1060Glu)
|
rs2108194433
|
|
NM_183357.3(ADCY5):c.3224C>T (p.Ala1075Val)
|
rs2108194025
|
|
NM_183357.3(ADCY5):c.459_460del (p.Arg154fs)
|
rs1576704514
|
|
NM_194248.3(OTOF):c.1236del (p.Glu413fs)
|
rs397515581
|
|
NM_194277.3(FRMD7):c.849G>C (p.Glu283Asp)
|
rs899378158
|
|
NM_198239.2(CCN6):c.149G>A (p.Trp50Ter)
|
rs927750682
|
|
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del)
|
rs377639087
|
|
NM_198253.3(TERT):c.1610G>A (p.Arg537His)
|
rs1272053273
|
|
NM_198253.3(TERT):c.652G>A (p.Ala218Thr)
|
rs1554043028
|
|
NM_198253.3(TERT):c.959C>T (p.Pro320Leu)
|
rs1751178484
|
|
NM_198282.4(STING1):c.277del (p.Leu93fs)
|
rs1372183093
|
|
NM_198334.3(GANAB):c.1593+3_1593+15del
|
rs2134476660
|
|
NM_198407.2(GHSR):c.545T>C (p.Val182Ala)
|
rs1043529281
|
|
NM_198428.3(BBS9):c.310del (p.Cys104fs)
|
rs747388658
|
|
NM_198428.3(BBS9):c.702+1G>A
|
rs2128325966
|
|
NM_198503.5(KCNT2):c.2953G>A (p.Asp985Asn)
|
rs2147780395
|
|
NM_198503.5(KCNT2):c.725C>A (p.Thr242Asn)
|
rs1572418357
|
|
NM_198503.5(KCNT2):c.914G>C (p.Cys305Ser)
|
rs2148537524
|
|
NM_198576.4(AGRN):c.2457G>C (p.Gly819=)
|
rs112039851
|
|
NM_198576.4(AGRN):c.4745-47_4753del
|
rs1570242061
|
|
NM_198578.4(LRRK2):c.4883G>A (p.Arg1628His)
|
rs33949390
|
|
NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro)
|
rs33949390
|
|
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.1147_1150del (p.Leu383fs)
|
rs1376687924
|
|
NM_198880.3(QRICH1):c.1306C>G (p.Gln436Glu)
|
rs1575347805
|
|
NM_198880.3(QRICH1):c.646G>A (p.Val216Met)
|
rs76308243
|
|
NM_198880.3(QRICH1):c.64dup (p.Val22fs)
|
rs1575373920
|
|
NM_198904.4(GABRG2):c.1A>G (p.Met1Val)
|
rs1581275976
|
|
NM_198904.4(GABRG2):c.929C>G (p.Thr310Ser)
|
rs2113632484
|
|
NM_198947.4(FAM111B):c.1461del (p.Cys488fs)
|
rs2135405104
|
|
NM_198994.3(TGM6):c.1967+59AG[2]
|
rs60388755
|
|
NM_199242.3(UNC13D):c.118-307G>A
|
rs1019391145
|
|
NM_199242.3(UNC13D):c.2710-2A>G
|
rs910650073
|
|
NM_199334.5(THRA):c.425G>T (p.Arg142Leu)
|
rs1598396222
|
|
NM_201253.3(CRB1):c.1313G>A (p.Cys438Tyr)
|
rs1571522690
|
|
NM_201253.3(CRB1):c.1455_1458dup (p.Ser487fs)
|
rs1571523319
|
|
NM_201253.3(CRB1):c.1633T>C (p.Ser545Pro)
|
rs1571524102
|
|
NM_201253.3(CRB1):c.1843G>A (p.Gly615Ser)
|
rs1571525145
|
|
NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs)
|
rs745348555
|
|
NM_201253.3(CRB1):c.275_276insT (p.Arg92fs)
|
rs1571848132
|
|
NM_201253.3(CRB1):c.281_282del (p.Phe94fs)
|
rs1571848166
|
|
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg)
|
rs62645747
|
|
NM_201253.3(CRB1):c.287G>A (p.Cys96Tyr)
|
rs1571848190
|
|
NM_201253.3(CRB1):c.289_294del (p.Lys97_Cys98del)
|
rs1571848216
|
|
NM_201253.3(CRB1):c.3299T>C (p.Ile1100Thr)
|
rs62635659
|
|
NM_201253.3(CRB1):c.3462_3463del (p.Cys1154_Glu1155delinsTer)
|
rs1571557864
|
|
NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr)
|
rs1450635782
|
|
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly)
|
rs62635649
|
|
NM_201253.3(CRB1):c.4142C>T (p.Pro1381Leu)
|
rs1667264651
|
|
NM_201253.3(CRB1):c.488G>T (p.Cys163Phe)
|
rs1571848855
|
|
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)
|
rs398124615
|
|
NM_201253.3(CRB1):c.613_619del (p.Ile205fs)
|
rs62645752
|
|
NM_201253.3(CRB1):c.652+1G>A
|
rs2125304900
|
|
NM_201253.3(CRB1):c.984G>A (p.Trp328Ter)
|
rs1571878277
|
|
NM_201631.4(TGM5):c.10+2T>C
|
rs2142390360
|
|
NM_203447.4(DOCK8):c.1680-2428G>T
|
rs1586810354
|
|
NM_203447.4(DOCK8):c.2007+2T>G
|
rs2131215770
|
|
NM_203486.3(DLL3):c.599_603dup (p.Pro202fs)
|
rs786200899
|
|
NM_205768.3(ZBTB18):c.1210G>A (p.Glu404Lys)
|
rs2148557375
|
|
NM_205768.3(ZBTB18):c.1406A>G (p.His469Arg)
|
rs2148557675
|
|
NM_205768.3(ZBTB18):c.967_968insG (p.Leu323fs)
|
rs1572531281
|
|
NM_205861.3(DHDDS):c.438C>G (p.Asn146Lys)
|
rs2124426386
|
|
NM_205861.3(DHDDS):c.632G>A (p.Arg211Gln)
|
rs1553122926
|
|
NM_206862.4(TACC2):c.3317C>G (p.Ser1106Trp)
|
rs753194129
|
|
NM_206933.2(USH2A):c.[12100G>A];[3367T>C]
|
|
|
NM_206933.4(USH2A):c.10246T>G (p.Cys3416Gly)
|
rs527236140
|
|
NM_206933.4(USH2A):c.10385C>T (p.Thr3462Ile)
|
rs1416602859
|
|
NM_206933.4(USH2A):c.11095G>T (p.Glu3699Ter)
|
rs755804518
|
|
NM_206933.4(USH2A):c.11389+1G>A
|
rs368770647
|
|
NM_206933.4(USH2A):c.12712T>C (p.Tyr4238His)
|
rs1571949388
|
|
NM_206933.4(USH2A):c.1312_1327dup (p.Asn443fs)
|
rs1415157305
|
|
NM_206933.4(USH2A):c.15380C>T (p.Pro5127Leu)
|
rs201513512
|
|
NM_206933.4(USH2A):c.1829A>C (p.His610Pro)
|
rs1571668556
|
|
NM_206933.4(USH2A):c.1985G>C (p.Cys662Ser)
|
rs1487450999
|
|
NM_206933.4(USH2A):c.2534del (p.Leu845fs)
|
rs1572088481
|
|
NM_206933.4(USH2A):c.2809+1G>A
|
rs759433119
|
|
NM_206933.4(USH2A):c.2810G>T (p.Gly937Val)
|
rs1572074313
|
|
NM_206933.4(USH2A):c.401_402delinsA (p.Ser134fs)
|
|
|
NM_206933.4(USH2A):c.434T>A (p.Met145Lys)
|
rs2102788303
|
|
NM_206933.4(USH2A):c.4603dup (p.His1535fs)
|
rs1572020896
|
|
NM_206933.4(USH2A):c.5737G>T (p.Glu1913Ter)
|
rs762837293
|
|
NM_206933.4(USH2A):c.7932G>A (p.Trp2644Ter)
|
rs1571783742
|
|
NM_206933.4(USH2A):c.851A>G (p.Glu284Gly)
|
rs762869685
|
|
NM_206933.4(USH2A):c.9827C>A (p.Ser3276Ter)
|
rs863224941
|
|
NM_206933.4(USH2A):c.999_1000dup (p.Arg334fs)
|
rs1571703770
|
|
NM_206965.2(FTCD):c.990dup (p.Pro331fs)
|
rs398124234
|
|
NM_207034.3(EDN3):c.565dup (p.Thr189fs)
|
rs11570344
|
|
NM_207111.4(RNF216):c.2686G>T (p.Val896Phe)
|
rs141327139
|
|
NM_207346.3(TSEN54):c.221+3G>T
|
rs2147005856
|
|
NM_207346.3(TSEN54):c.249G>A (p.Arg83=)
|
rs2147006296
|
|
NM_207352.4(CYP4V2):c.1169G>T (p.Arg390Leu)
|
rs199476201
|
|
NM_207352.4(CYP4V2):c.518T>G (p.Leu173Trp)
|
rs199476190
|
|
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.1013+1G>A
|
rs1335126943
|
|
NM_213599.3(ANO5):c.1494T>G (p.Asp498Glu)
|
rs2133738349
|
|
NM_213599.3(ANO5):c.1721A>G (p.Tyr574Cys)
|
rs2133747827
|
|
NM_213599.3(ANO5):c.191dup (p.Asn64fs)
|
rs137854521
|
|
NM_213599.3(ANO5):c.2646C>G (p.Asn882Lys)
|
rs34969327
|
|
NM_213720.3(CHCHD10):c.312C>T (p.Tyr104=)
|
rs9153
|
|
UGT1A1*28
|
rs3064744
|
|
m.10197G>A
|
rs267606891
|
|
m.10438A>G
|
rs121434456
|
|
m.10450A>G
|
rs387906731
|
|
m.10663T>C
|
rs1556423844
|
|
m.12147G>A
|
rs121434474
|
|
m.12207G>A
|
rs118203889
|
|
m.12706T>C
|
rs267606893
|
|
m.1442G>A
|
rs28358573
|
|
m.14459G>A
|
rs199476105
|
|
m.14487T>C
|
rs199476109
|
|
m.14568C>T
|
rs397515506
|
|
m.14674T>C
|
rs387906421
|
|
m.15150G>A
|
rs207460000
|
|
m.15572T>C
|
rs207459996
|
|
m.15579A>G
|
rs207460002
|
|
m.1624C>T
|
rs199476144
|
|
m.3242G>A
|
rs193303018
|
|
m.3251A>G
|
rs199474662
|
|
m.3271T>C
|
rs199474658
|
|
m.3303C>T
|
rs199474660
|
|
m.3635G>A
|
rs397515507
|
|
m.3697G>A
|
rs199476122
|
|
m.3733G>A
|
rs199476125
|
|
m.3946G>A
|
rs199476123
|
|
m.4160T>C
|
rs199476119
|
|
m.4171C>A
|
rs28616230
|
|
m.4269A>G
|
rs121434466
|
|
m.4284G>A
|
rs121434468
|
|
m.4300A>G
|
rs121434470
|
|
m.5521G>A
|
rs199474673
|
|
m.5532G>A
|
rs199474674
|
|
m.5591G>A
|
rs121434458
|
|
m.5650G>A
|
rs121434457
|
|
m.5703G>A
|
rs199476130
|
|
m.5728T>C
|
rs199476132
|
|
m.608A>G
|
rs387906735
|
|
m.616T>C
|
rs387906420
|
|
m.622G>A
|
rs118203887
|
|
m.6742T>C
|
rs199476126
|
|
m.7445A>C
|
rs199474818
|
|
m.7497G>A
|
rs387906419
|
|
m.7511T>C
|
rs199474821
|
|
m.7512T>C
|
rs199474817
|
|
m.8009G>A
|
rs199474826
|
|
m.8342G>A
|
rs118192103
|
|
m.8344A>G
|
rs118192098
|
|
m.8356T>C
|
rs118192099
|
|
m.8363G>A
|
rs118192100
|
|
m.9997T>C
|
rs121434475
|
|