NM_152296.5(ATP1A3):c.666T>G (p.Thr222=)
|
rs2217342
|
0.93139
|
NM_001308093.3(GATA4):c.617-113T>C
|
rs3735819
|
0.80128
|
NM_015046.7(SETX):c.3576T>G (p.Asp1192Glu)
|
rs1185193
|
0.76694
|
NM_015046.7(SETX):c.1077T>C (p.Tyr359=)
|
rs9411449
|
0.75774
|
NM_001358921.2(COQ2):c.744T>C (p.Asp248=)
|
rs6535454
|
0.74903
|
NM_015046.7(SETX):c.3754G>A (p.Gly1252Arg)
|
rs1183768
|
0.68476
|
NM_015046.7(SETX):c.4156A>G (p.Ile1386Val)
|
rs543573
|
0.68049
|
NM_001358921.2(COQ2):c.46G>T (p.Val16Leu)
|
rs6818847
|
0.62431
|
NM_198578.4(LRRK2):c.7190T>C (p.Met2397Thr)
|
rs3761863
|
0.61824
|
NM_014694.4(ADAMTSL2):c.2313A>G (p.Val771=)
|
rs1064975
|
0.61566
|
NM_001308093.3(GATA4):c.1000+56C>A
|
rs804280
|
0.61291
|
NM_000053.4(ATP7B):c.3419T>C (p.Val1140Ala)
|
rs1801249
|
0.57256
|
NM_000053.4(ATP7B):c.2855G>A (p.Arg952Lys)
|
rs732774
|
0.56484
|
NM_000053.4(ATP7B):c.2495A>G (p.Lys832Arg)
|
rs1061472
|
0.54674
|
NM_000053.4(ATP7B):c.3903+6C>T
|
rs2282057
|
0.53754
|
NM_000146.4(FTL):c.163T>C (p.Leu55=)
|
rs2230267
|
0.51379
|
NM_000754.4(COMT):c.186C>T (p.His62=)
|
rs4633
|
0.44697
|
NM_015046.7(SETX):c.7759A>G (p.Ile2587Val)
|
rs1056899
|
0.44536
|
NM_001202.6(BMP4):c.455T>C (p.Val152Ala)
|
rs17563
|
0.44424
|
NM_000754.4(COMT):c.472G>A (p.Val158Met)
|
rs4680
|
0.44044
|
NM_000053.4(ATP7B):c.1366G>C (p.Val456Leu)
|
rs1801244
|
0.41941
|
NM_000053.4(ATP7B):c.1216T>G (p.Ser406Ala)
|
rs1801243
|
0.41549
|
NM_000311.5(PRNP):c.385A>G (p.Met129Val)
|
rs1799990
|
0.33516
|
NM_002693.3(POLG):c.3105-11T>C
|
rs2302084
|
0.32855
|
NM_000754.4(COMT):c.408C>G (p.Leu136=)
|
rs4818
|
0.32165
|
NM_015046.7(SETX):c.5563A>G (p.Thr1855Ala)
|
rs2296871
|
0.31596
|
NM_015046.7(SETX):c.5811T>C (p.Asp1937=)
|
rs2296869
|
0.31585
|
NM_025000.4(DCAF17):c.150C>T (p.Val50=)
|
rs6751956
|
0.28531
|
NM_032409.3(PINK1):c.1562A>C (p.Asn521Thr)
|
rs1043424
|
0.27338
|
NM_000302.4(PLOD1):c.295G>A (p.Ala99Thr)
|
rs7551175
|
0.26545
|
NM_001110556.2(FLNA):c.5850T>C (p.Ala1950=)
|
rs2070825
|
0.22980
|
NM_001358921.2(COQ2):c.840C>T (p.Ser280=)
|
rs1129617
|
0.22636
|
NM_003690.5(PRKRA):c.685C>T (p.Leu229=)
|
rs62176107
|
0.22118
|
NM_177438.3(DICER1):c.4206+11del
|
rs58202892
|
0.21617
|
NM_001256864.2(DNAJC6):c.2183G>A (p.Ser728Asn)
|
rs4915691
|
0.20494
|
NM_025000.4(DCAF17):c.322-14C>T
|
rs192861143
|
0.20151
|
NM_025000.4(DCAF17):c.999A>G (p.Gln333=)
|
rs3731983
|
0.19825
|
NM_025000.4(DCAF17):c.1267-7C>T
|
rs3731981
|
0.19769
|
NM_006493.4(CLN5):c.956A>G (p.Lys319Arg)
|
rs1800209
|
0.19521
|
NM_001256864.2(DNAJC6):c.1983T>C (p.Ser661=)
|
rs12077111
|
0.17885
|
NM_001256864.2(DNAJC6):c.1506C>T (p.His502=)
|
rs11208644
|
0.17883
|
NM_053025.4(MYLK):c.62C>A (p.Pro21His)
|
rs28497577
|
0.17349
|
NM_014694.4(ADAMTSL2):c.1641C>T (p.His547=)
|
rs7868941
|
0.16167
|
NM_053025.4(MYLK):c.782T>C (p.Val261Ala)
|
rs3796164
|
0.15515
|
NM_004181.5(UCHL1):c.53C>A (p.Ser18Tyr)
|
rs5030732
|
0.15471
|
NM_000302.4(PLOD1):c.358G>T (p.Ala120Ser)
|
rs2273285
|
0.14145
|
NM_000093.5(COL5A1):c.4122G>A (p.Thr1374=)
|
rs3827848
|
0.14130
|
NM_014694.4(ADAMTSL2):c.2022C>T (p.Pro674=)
|
rs534165083
|
0.12965
|
NM_014694.4(ADAMTSL2):c.2613G>A (p.Val871=)
|
rs62637566
|
0.12851
|
NM_006493.4(CLN5):c.-144C>T
|
rs77416795
|
0.12832
|
NM_000435.3(NOTCH3):c.5526T>C (p.Ala1842=)
|
rs16980398
|
0.12317
|
NM_001734.5(C1S):c.356G>A (p.Arg119His)
|
rs12146727
|
0.12113
|
NM_002335.4(LRP5):c.2220C>T (p.Asn740=)
|
rs2306862
|
0.11683
|
NM_053025.4(MYLK):c.2582T>C (p.Leu861Pro)
|
rs3732486
|
0.11664
|
NM_001042432.2(CLN3):c.1211A>G (p.His404Arg)
|
rs77595156
|
0.11421
|
NM_002335.4(LRP5):c.3989C>T (p.Ala1330Val)
|
rs3736228
|
0.10701
|
NM_000435.3(NOTCH3):c.3058G>C (p.Ala1020Pro)
|
rs35769976
|
0.10508
|
NM_198578.4(LRRK2):c.1653C>G (p.Asn551Lys)
|
rs7308720
|
0.10004
|
NM_004082.5(DCTN1):c.3610-20C>G
|
rs2268427
|
0.09345
|
NM_001308093.3(GATA4):c.1132A>G (p.Ser378Gly)
|
rs3729856
|
0.09064
|
NM_002474.3(MYH11):c.987C>T (p.Thr329=)
|
rs4781689
|
0.08684
|
NM_001365276.2(TNXB):c.3764G>A (p.Arg1255His)
|
rs12211410
|
0.08362
|
NM_000435.3(NOTCH3):c.3547G>A (p.Val1183Met)
|
rs10408676
|
0.08167
|
NM_001110556.2(FLNA):c.4920G>A (p.Gly1640=)
|
rs61741041
|
0.08115
|
NM_024306.5(FA2H):c.1039+16T>G
|
rs7193407
|
0.07963
|
NM_001103146.3(GIGYF2):c.1554G>A (p.Glu518=)
|
rs2305138
|
0.07960
|
NM_000093.5(COL5A1):c.1569+15C>T
|
rs62574081
|
0.07860
|
NM_006493.4(CLN5):c.-76A>G
|
rs7987664
|
0.07840
|
NM_003560.4(PLA2G6):c.209+16C>T
|
rs2267368
|
0.07814
|
NM_002609.4(PDGFRB):c.85A>T (p.Ile29Phe)
|
rs17110944
|
0.07088
|
NM_001386393.1(PANK2):c.2T>A
|
rs71647828
|
0.06976
|
NM_005866.4(SIGMAR1):c.552C>T (p.Phe184=)
|
rs61739588
|
0.06946
|
NM_001852.4(COL9A2):c.1741G>A (p.Val581Ile)
|
rs3737821
|
0.06797
|
NM_053025.4(MYLK):c.2742C>A (p.Asp914Glu)
|
rs3732487
|
0.06754
|
NM_021939.4(FKBP10):c.590A>G (p.Lys197Arg)
|
rs34764749
|
0.06739
|
NM_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn)
|
rs12483377
|
0.06693
|
NM_002693.3(POLG):c.3708G>T (p.Gln1236His)
|
rs3087374
|
0.06272
|
NM_015268.4(DNAJC13):c.4157-13T>G
|
rs78526588
|
0.06240
|
NM_001909.5(CTSD):c.173C>T (p.Ala58Val)
|
rs17571
|
0.06134
|
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys)
|
rs11258194
|
0.05969
|
NM_198578.4(LRRK2):c.4269G>A (p.Lys1423=)
|
rs11175964
|
0.05959
|
NM_001368894.2(PAX6):c.808-12C>T
|
rs667773
|
0.05916
|
NM_001377265.1(MAPT):c.1178C>T (p.Ser393Leu)
|
rs73314997
|
0.05622
|
NM_001044.5(SLC6A3):c.114C>T (p.Asn38=)
|
rs6350
|
0.05616
|
NM_001110556.2(FLNA):c.6642G>C (p.Val2214=)
|
rs1064822
|
0.05512
|
NM_001257180.2(SLC20A2):c.910G>A (p.Gly304Ser)
|
rs73675069
|
0.05347
|
NM_003036.4(SKI):c.185C>G (p.Ala62Gly)
|
rs28384811
|
0.05253
|
NM_001844.5(COL2A1):c.1836T>C (p.Gly612=)
|
rs41317939
|
0.05124
|
NM_001853.4(COL9A3):c.280C>T (p.Pro94Ser)
|
rs35908728
|
0.04973
|
NM_015046.7(SETX):c.3455T>G (p.Phe1152Cys)
|
rs3739922
|
0.04708
|
NM_014845.6(FIG4):c.1090A>T (p.Met364Leu)
|
rs2295837
|
0.04647
|
NM_001854.4(COL11A1):c.2043+8G>A
|
rs2622875
|
0.04635
|
NM_005022.4(PFN1):c.334C>T (p.Leu112=)
|
rs13204
|
0.04611
|
NM_001114753.3(ENG):c.14C>T (p.Thr5Met)
|
rs35400405
|
0.04608
|
NM_015268.4(DNAJC13):c.5018A>G (p.Tyr1673Cys)
|
rs79953286
|
0.04591
|
NM_000302.4(PLOD1):c.2124T>C (p.His708=)
|
rs879690
|
0.04545
|
NM_001379610.1(SPINK1):c.174C>T (p.Cys58=)
|
rs35737774
|
0.04434
|
NM_001851.6(COL9A1):c.2299A>G (p.Met767Val)
|
rs6910140
|
0.04394
|
NM_025233.7(COASY):c.1486-5C>G
|
rs74886553
|
0.04354
|
NM_002775.5(HTRA1):c.778-20G>A
|
rs74159166
|
0.04347
|
NM_000310.4(PPT1):c.401T>C (p.Ile134Thr)
|
rs1800205
|
0.04289
|
NM_002775.5(HTRA1):c.753C>T (p.Ile251=)
|
rs17624021
|
0.04155
|
NM_001110556.2(FLNA):c.3035C>T (p.Ser1012Leu)
|
rs17091204
|
0.04081
|
NM_001110556.2(FLNA):c.5290G>A (p.Ala1764Thr)
|
rs57108893
|
0.04049
|
NM_018965.4(TREM2):c.632T>C (p.Leu211Pro)
|
rs2234256
|
0.04010
|
NM_007194.4(CHEK2):c.252A>G (p.Glu84=)
|
rs1805129
|
0.04009
|
NM_000043.6(FAS):c.46G>A (p.Ala16Thr)
|
rs3218619
|
0.03995
|
NM_001177693.2(ARHGEF28):c.4622C>G (p.Ala1541Gly)
|
rs78992879
|
0.03856
|
NM_021922.3(FANCE):c.611C>T (p.Ser204Leu)
|
rs7761870
|
0.03770
|
NM_001177693.2(ARHGEF28):c.3294T>C (p.Ala1098=)
|
rs61734875
|
0.03735
|
NM_018112.3(TMEM38B):c.761G>C (p.Cys254Ser)
|
rs35232724
|
0.03714
|
NM_032409.3(PINK1):c.344A>T (p.Gln115Leu)
|
rs148871409
|
0.03666
|
NM_000093.5(COL5A1):c.4560C>T (p.Ile1520=)
|
rs2228559
|
0.03652
|
NM_005765.3(ATP6AP2):c.268C>G (p.Pro90Ala)
|
rs9014
|
0.03641
|
NM_001114753.3(ENG):c.1060C>T (p.Leu354=)
|
rs36092484
|
0.03618
|
NM_000402.4(G6PD):c.292G>A (p.Val98Met)
|
rs1050828
|
0.03616
|
NM_144997.7(FLCN):c.1233G>A (p.Glu411=)
|
rs61750032
|
0.03557
|
NM_007262.5(PARK7):c.234C>T (p.Gly78=)
|
rs11548937
|
0.03501
|
NM_002335.4(LRP5):c.1999G>A (p.Val667Met)
|
rs4988321
|
0.03472
|
NM_001711.6(BGN):c.564C>T (p.Ile188=)
|
rs2070933
|
0.03463
|
NM_005902.4(SMAD3):c.508A>G (p.Ile170Val)
|
rs35874463
|
0.03414
|
NM_001851.6(COL9A1):c.1066-3T>C
|
rs16868869
|
0.03394
|
NM_004360.5(CDH1):c.48+5C>G
|
rs77312180
|
0.03370
|
NM_000393.5(COL5A2):c.1378C>T (p.Pro460Ser)
|
rs35830636
|
0.03364
|
NM_021999.5(ITM2B):c.81C>T (p.Leu27=)
|
rs11556899
|
0.03334
|
NM_001288705.3(CSF1R):c.294C>T (p.His98=)
|
rs17652007
|
0.03331
|
NM_004960.4(FUS):c.153C>T (p.Gly51=)
|
rs61733962
|
0.03329
|
NM_012179.4(FBXO7):c.540A>G (p.Pro180=)
|
rs41311141
|
0.03327
|
NM_004629.2(FANCG):c.1133C>T (p.Ser378Leu)
|
rs4986939
|
0.03269
|
NM_001018115.3(FANCD2):c.2712C>T (p.Asn904=)
|
rs35594075
|
0.03203
|
NM_001235.5(SERPINH1):c.955-6C>A
|
rs7105575
|
0.03189
|
NM_000435.3(NOTCH3):c.6438G>A (p.Ala2146=)
|
rs1044008
|
0.03162
|
NM_001379610.1(SPINK1):c.36G>C (p.Leu12Phe)
|
rs35877720
|
0.03139
|
NM_000142.5(FGFR3):c.588C>T (p.Arg196=)
|
rs2305180
|
0.03125
|
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser)
|
rs61735045
|
0.03116
|
NM_002474.3(MYH11):c.5370C>T (p.Leu1790=)
|
rs35295469
|
0.03116
|
NM_053025.4(MYLK):c.4620-12G>A
|
rs41301337
|
0.03066
|
NM_000096.4(CP):c.2991T>C (p.His997=)
|
rs34394958
|
0.03057
|
NM_002474.3(MYH11):c.792T>C (p.Tyr264=)
|
rs34341838
|
0.03006
|
NM_006129.5(BMP1):c.1766-5C>T
|
rs76809016
|
0.02982
|
NM_000051.4(ATM):c.3403-15T>A
|
rs79701258
|
0.02975
|
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile)
|
rs2237857
|
0.02968
|
NM_030957.4(ADAMTS10):c.185G>A (p.Arg62Gln)
|
rs62621197
|
0.02952
|
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg)
|
rs35782247
|
0.02918
|
NM_000096.4(CP):c.2554+17G>A
|
rs35593818
|
0.02896
|
NM_000051.4(ATM):c.657T>C (p.Cys219=)
|
rs2235003
|
0.02841
|
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg)
|
rs7334118
|
0.02828
|
NM_002354.3(EPCAM):c.492-5T>C
|
rs78608315
|
0.02826
|
NM_001018115.3(FANCD2):c.2124T>C (p.Phe708=)
|
rs9809716
|
0.02768
|
NM_020975.6(RET):c.1264-5C>T
|
rs9282835
|
0.02749
|
NM_000435.3(NOTCH3):c.6221C>T (p.Pro2074Leu)
|
rs114447350
|
0.02709
|
NM_002693.3(POLG):c.3428A>G (p.Glu1143Gly)
|
rs2307441
|
0.02704
|
NM_000093.5(COL5A1):c.4230+6G>A
|
rs77176843
|
0.02700
|
NM_052854.4(CREB3L1):c.1547T>G (p.Ile516Ser)
|
rs73464035
|
0.02699
|
NM_001018115.3(FANCD2):c.64+12G>C
|
rs9833228
|
0.02661
|
NM_001288705.3(CSF1R):c.733G>T (p.Ala245Ser)
|
rs41338945
|
0.02627
|
NM_000302.4(PLOD1):c.250G>A (p.Ala84Thr)
|
rs34878020
|
0.02621
|
NM_002087.4(GRN):c.384T>C (p.Asp128=)
|
rs25646
|
0.02616
|
NM_000455.5(STK11):c.816C>T (p.Tyr272=)
|
rs9282859
|
0.02603
|
NM_002609.4(PDGFRB):c.1391C>T (p.Thr464Met)
|
rs74943037
|
0.02595
|
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr)
|
rs79344818
|
0.02573
|
NM_030957.4(ADAMTS10):c.1588-7C>G
|
rs11882422
|
0.02550
|
NM_001110556.2(FLNA):c.7224C>T (p.Gly2408=)
|
rs12008807
|
0.02548
|
NM_000435.3(NOTCH3):c.1140T>C (p.Pro380=)
|
rs61749020
|
0.02545
|
NM_000051.4(ATM):c.1254A>G (p.Gln418=)
|
rs4987943
|
0.02542
|
NM_000123.4(ERCC5):c.767A>G (p.Gln256Arg)
|
rs4150313
|
0.02531
|
NM_024675.4(PALB2):c.3300T>G (p.Thr1100=)
|
rs45516100
|
0.02529
|
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile)
|
rs17227354
|
0.02526
|
NM_000310.4(PPT1):c.837G>C (p.Gln279His)
|
rs72937434
|
0.02506
|
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met)
|
rs74902811
|
0.02492
|
NM_000051.4(ATM):c.8786+8A>C
|
rs4986839
|
0.02488
|
NM_182895.5(SCARF2):c.1967C>T (p.Pro656Leu)
|
rs9680797
|
0.02487
|
NM_006493.4(CLN5):c.87C>G (p.Ala29=)
|
rs138037471
|
0.02484
|
NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro)
|
rs36070315
|
0.02463
|
NM_003105.6(SORL1):c.237G>A (p.Arg79=)
|
rs114331262
|
0.02453
|
NM_022089.4(ATP13A2):c.3235+17G>A
|
rs56146840
|
0.02453
|
NM_001999.4(FBN2):c.4098A>C (p.Thr1366=)
|
rs28763943
|
0.02427
|
NM_000138.5(FBN1):c.6888G>A (p.Gln2296=)
|
rs363830
|
0.02418
|
NM_000136.3(FANCC):c.408A>G (p.Gln136=)
|
rs1800360
|
0.02397
|
NM_000093.5(COL5A1):c.1935+8T>G
|
rs79195626
|
0.02373
|
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr)
|
rs2020873
|
0.02345
|
NM_000138.5(FBN1):c.7819+8A>C
|
rs363838
|
0.02324
|
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser)
|
rs17217772
|
0.02317
|
NM_000535.7(PMS2):c.1488C>T (p.His496=)
|
rs1805320
|
0.02307
|
NM_000501.4(ELN):c.2086+5G>C
|
rs111866046
|
0.02303
|
NM_002354.3(EPCAM):c.859-7C>T
|
rs72882786
|
0.02290
|
NM_001018115.3(FANCD2):c.2702G>T (p.Gly901Val)
|
rs35495399
|
0.02285
|
NM_000142.5(FGFR3):c.615+8C>G
|
rs17878375
|
0.02283
|
NM_203447.4(DOCK8):c.709G>A (p.Glu237Lys)
|
rs11789099
|
0.02275
|
NM_001379500.1(COL18A1):c.2781C>T (p.Pro927=)
|
rs11544970
|
0.02268
|
NM_000548.5(TSC2):c.4983C>T (p.Thr1661=)
|
rs35534817
|
0.02253
|
NM_000264.5(PTCH1):c.735A>G (p.Thr245=)
|
rs1805154
|
0.02243
|
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile)
|
rs1131660
|
0.02234
|
NM_004260.4(RECQL4):c.1258+6A>T
|
rs34437789
|
0.02229
|
NM_000093.5(COL5A1):c.574G>A (p.Asp192Asn)
|
rs138579182
|
0.02227
|
NM_000478.6(ALPL):c.1189+19G>T
|
rs61778393
|
0.02227
|
NM_017696.3(MCM9):c.726G>A (p.Gly242=)
|
rs41292552
|
0.02226
|
NM_000548.5(TSC2):c.3915G>A (p.Pro1305=)
|
rs11551373
|
0.02216
|
NM_001852.4(COL9A2):c.737C>T (p.Thr246Met)
|
rs2228565
|
0.02212
|
NM_207122.2(EXT2):c.-31+474G>A
|
rs112082531
|
0.02206
|
NM_020937.4(FANCM):c.3758A>G (p.Asn1253Ser)
|
rs45604036
|
0.02192
|
NM_000051.4(ATM):c.5497-8T>C
|
rs3092829
|
0.02183
|
NM_004628.5(XPC):c.142C>T (p.Leu48Phe)
|
rs2229089
|
0.02177
|
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala)
|
rs2228007
|
0.02174
|
NM_020937.4(FANCM):c.5627A>G (p.Asn1876Ser)
|
rs45557033
|
0.02173
|
NM_024675.4(PALB2):c.2014G>C (p.Glu672Gln)
|
rs45532440
|
0.02171
|
NM_000051.4(ATM):c.2639-17G>T
|
rs2234994
|
0.02161
|
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr)
|
rs3092856
|
0.02156
|
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_000222.3(KIT):c.2394C>T (p.Ile798=)
|
rs55789615
|
0.02125
|
NM_025137.4(SPG11):c.6754+19A>G
|
rs116635875
|
0.02121
|
NM_015046.7(SETX):c.498+20G>A
|
rs73659013
|
0.02106
|
NM_004260.4(RECQL4):c.1565G>A (p.Arg522His)
|
rs35842750
|
0.02097
|
NM_004260.4(RECQL4):c.3393+9A>G
|
rs4251692
|
0.02095
|
NM_024306.5(FA2H):c.289C>G (p.Pro97Ala)
|
rs35874850
|
0.02064
|
NM_025137.4(SPG11):c.7023C>T (p.Tyr2341=)
|
rs80338869
|
0.02054
|
NM_006231.4(POLE):c.4290+5C>T
|
rs5744936
|
0.02053
|
NM_000142.5(FGFR3):c.1076-17C>T
|
rs17881967
|
0.02051
|
NM_001110556.2(FLNA):c.3270C>T (p.Ile1090=)
|
rs79391751
|
0.02044
|
NM_002608.4(PDGFB):c.453C>G (p.Val151=)
|
rs55634318
|
0.02038
|
NM_002485.5(NBN):c.2082T>G (p.Pro694=)
|
rs7823648
|
0.02020
|
NM_001018115.3(FANCD2):c.516A>G (p.Ile172Met)
|
rs35173688
|
0.02009
|
NM_001365276.2(TNXB):c.10673G>A (p.Arg3558His)
|
rs41267126
|
0.02004
|
NM_005866.4(SIGMAR1):c.153G>A (p.Gly51=)
|
rs12115733
|
0.01994
|
NM_020937.4(FANCM):c.229A>G (p.Thr77Ala)
|
rs61746895
|
0.01981
|
NM_002609.4(PDGFRB):c.1453G>A (p.Glu485Lys)
|
rs41287110
|
0.01976
|
NM_000251.3(MSH2):c.573C>T (p.Leu191=)
|
rs1800151
|
0.01972
|
NM_001257180.2(SLC20A2):c.1011C>A (p.Thr337=)
|
rs116359869
|
0.01957
|
NM_001257180.2(SLC20A2):c.1254C>T (p.Gly418=)
|
rs115234947
|
0.01931
|
NM_001177693.2(ARHGEF28):c.3753C>T (p.Asp1251=)
|
rs146562116
|
0.01926
|
NM_001844.5(COL2A1):c.610-7G>A
|
rs7967258
|
0.01915
|
NM_032638.5(GATA2):c.1233G>A (p.Ala411=)
|
rs34172218
|
0.01909
|
NM_006059.4(LAMC3):c.2559C>T (p.Ser853=)
|
rs34652877
|
0.01902
|
NM_152281.3(GORAB):c.62-3T>C
|
rs73029138
|
0.01889
|
NM_080680.3(COL11A2):c.5165C>T (p.Pro1722Leu)
|
rs2229792
|
0.01881
|
NM_022725.4(FANCF):c.825G>A (p.Leu275=)
|
rs36045913
|
0.01879
|
NM_032444.4(SLX4):c.2824G>C (p.Glu942Gln)
|
rs114014006
|
0.01879
|
NM_004082.5(DCTN1):c.2448A>G (p.Ala816=)
|
rs1130484
|
0.01851
|
NM_017617.5(NOTCH1):c.6853G>A (p.Val2285Ile)
|
rs61751489
|
0.01849
|
NM_015046.7(SETX):c.6106+14G>A
|
rs73661157
|
0.01840
|
NM_001256864.2(DNAJC6):c.678G>A (p.Ala226=)
|
rs61753391
|
0.01829
|
NM_015268.4(DNAJC13):c.4543C>T (p.Pro1515Ser)
|
rs55825559
|
0.01828
|
NM_002734.5(PRKAR1A):c.87G>A (p.Ala29=)
|
rs3730349
|
0.01815
|
NM_016516.3(VPS54):c.2228+13T>G
|
rs183006584
|
0.01801
|
NM_016516.3(VPS54):c.2228+14T>A
|
rs190823081
|
0.01801
|
NM_000393.5(COL5A2):c.1535T>C (p.Val512Ala)
|
rs35852101
|
0.01792
|
NM_006502.3(POLH):c.1783A>G (p.Met595Val)
|
rs9333555
|
0.01768
|
NM_000142.5(FGFR3):c.348C>T (p.Arg116=)
|
rs2305179
|
0.01752
|
NM_000245.4(MET):c.1124A>G (p.Asn375Ser)
|
rs33917957
|
0.01723
|
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu)
|
rs45551636
|
0.01717
|
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp)
|
rs4987188
|
0.01714
|
NM_000393.5(COL5A2):c.1081A>C (p.Met361Leu)
|
rs76148000
|
0.01714
|
NM_000038.6(APC):c.7504G>A (p.Gly2502Ser)
|
rs2229995
|
0.01693
|
NM_001852.4(COL9A2):c.955-4C>G
|
rs118135975
|
0.01678
|
NM_025137.4(SPG11):c.1108G>A (p.Glu370Lys)
|
rs77697105
|
0.01678
|
NM_000548.5(TSC2):c.3986G>A (p.Arg1329His)
|
rs45517323
|
0.01675
|
NM_000271.5(NPC1):c.1503C>T (p.Asp501=)
|
rs116046557
|
0.01665
|
NM_000142.5(FGFR3):c.1075+5C>T
|
rs3135885
|
0.01659
|
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His)
|
rs61751543
|
0.01655
|
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile)
|
rs1805324
|
0.01651
|
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp)
|
rs78676079
|
0.01642
|
NM_004360.5(CDH1):c.2634C>T (p.Gly878=)
|
rs2229044
|
0.01638
|
NM_000546.6(TP53):c.993+12T>C
|
rs1800899
|
0.01614
|
NM_020937.4(FANCM):c.4799C>T (p.Thr1600Ile)
|
rs61746943
|
0.01614
|
NM_000311.5(PRNP):c.512A>G (p.Asn171Ser)
|
rs16990018
|
0.01612
|
NM_000021.4(PSEN1):c.1248+8T>C
|
rs362382
|
0.01609
|
NM_152296.5(ATP1A3):c.994-20T>G
|
rs138485069
|
0.01603
|
NM_004304.5(ALK):c.2039C>T (p.Thr680Ile)
|
rs35228363
|
0.01598
|
NM_015046.7(SETX):c.3182C>T (p.Pro1061Leu)
|
rs12352982
|
0.01591
|
NM_198241.3(EIF4G1):c.4395+5G>A
|
rs16858676
|
0.01586
|
NM_007194.4(CHEK2):c.1542+11T>A
|
rs17881716
|
0.01583
|
NM_000271.5(NPC1):c.1947+14G>T
|
rs3745024
|
0.01574
|
NM_021939.4(FKBP10):c.1400-4C>G
|
rs114199361
|
0.01571
|
NM_020975.6(RET):c.2944C>T (p.Arg982Cys)
|
rs17158558
|
0.01567
|
NM_000435.3(NOTCH3):c.3399C>A (p.His1133Gln)
|
rs112197217
|
0.01566
|
NM_000393.5(COL5A2):c.1006-9C>T
|
rs73978832
|
0.01552
|
NM_000393.5(COL5A2):c.2498C>T (p.Pro833Leu)
|
rs116298748
|
0.01542
|
NM_000435.3(NOTCH3):c.6102C>T (p.Pro2034=)
|
rs114887570
|
0.01539
|
NM_001257180.2(SLC20A2):c.1438G>A (p.Ala480Thr)
|
rs79577461
|
0.01539
|
NM_004168.4(SDHA):c.1664-8G>A
|
rs199790689
|
0.01533
|
NM_017617.5(NOTCH1):c.4129C>T (p.Pro1377Ser)
|
rs61751542
|
0.01511
|
NM_000428.3(LTBP2):c.3262G>A (p.Gly1088Ser)
|
rs61505039
|
0.01509
|
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser)
|
rs45494092
|
0.01508
|
NM_000271.5(NPC1):c.2514+6C>T
|
rs73392120
|
0.01501
|
NM_001110556.2(FLNA):c.1286C>T (p.Thr429Met)
|
rs36051194
|
0.01499
|
NM_000021.4(PSEN1):c.953A>G (p.Glu318Gly)
|
rs17125721
|
0.01497
|
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu)
|
rs1800362
|
0.01494
|
NM_003560.4(PLA2G6):c.172G>A (p.Val58Ile)
|
rs11570605
|
0.01488
|
NM_198241.3(EIF4G1):c.4386C>T (p.Asp1462=)
|
rs112718796
|
0.01477
|
NM_013254.4(TBK1):c.1391T>C (p.Val464Ala)
|
rs35635889
|
0.01470
|
NM_198578.4(LRRK2):c.4317+12del
|
rs200829235
|
0.01470
|
NM_000136.3(FANCC):c.843+4C>T
|
rs4647506
|
0.01468
|
NM_005902.4(SMAD3):c.870C>T (p.Ile290=)
|
rs117185005
|
0.01464
|
NM_003738.5(PTCH2):c.2127C>T (p.Asp709=)
|
rs11573587
|
0.01447
|
NM_015046.7(SETX):c.2975A>G (p.Lys992Arg)
|
rs61742937
|
0.01445
|
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser)
|
rs28997576
|
0.01443
|
NM_000447.3(PSEN2):c.441C>T (p.Ser147=)
|
rs114334281
|
0.01441
|
NM_014967.5(FAN1):c.1851C>T (p.Ser617=)
|
rs118060760
|
0.01439
|
NM_001114753.3(ENG):c.1794T>C (p.Gly598=)
|
rs41358947
|
0.01435
|
NM_000447.3(PSEN2):c.185G>A (p.Arg62His)
|
rs58973334
|
0.01433
|
NM_000251.3(MSH2):c.1077-10T>C
|
rs17224360
|
0.01428
|
NM_003238.6(TGFB2):c.643+7A>C
|
rs7531245
|
0.01418
|
NM_198241.3(EIF4G1):c.4251C>T (p.Val1417=)
|
rs76779558
|
0.01418
|
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys)
|
rs5745066
|
0.01416
|
NM_031885.5(BBS2):c.1413A>C (p.Val471=)
|
rs35294865
|
0.01415
|
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr)
|
rs33935154
|
0.01412
|
NM_000051.4(ATM):c.2685A>G (p.Leu895=)
|
rs3218687
|
0.01393
|
NM_000179.3(MSH6):c.1164C>T (p.His388=)
|
rs55708305
|
0.01384
|
NM_006493.4(CLN5):c.381T>G (p.Thr127=)
|
rs34481987
|
0.01377
|
NM_004168.4(SDHA):c.1776T>C (p.His592=)
|
rs1126538
|
0.01372
|
NM_004304.5(ALK):c.952+16C>T
|
rs112736234
|
0.01371
|
NM_053025.4(MYLK):c.2533C>T (p.Arg845Cys)
|
rs3732485
|
0.01370
|
NM_198253.3(TERT):c.3184G>A (p.Ala1062Thr)
|
rs35719940
|
0.01370
|
NM_001382430.1(AKT1):c.567+14G>A
|
rs3730345
|
0.01364
|
NM_000179.3(MSH6):c.2272C>T (p.Leu758=)
|
rs56371757
|
0.01363
|
NM_004655.4(AXIN2):c.1615G>A (p.Val539Met)
|
rs9913621
|
0.01361
|
NM_001844.5(COL2A1):c.1266+7G>A
|
rs41317915
|
0.01359
|
NM_007126.5(VCP):c.18-5T>C
|
rs114256093
|
0.01353
|
NM_000368.5(TSC1):c.1760A>G (p.Lys587Arg)
|
rs118203576
|
0.01347
|
NM_006231.4(POLE):c.91G>T (p.Ala31Ser)
|
rs34047482
|
0.01320
|
NM_004082.5(DCTN1):c.1484G>A (p.Arg495Gln)
|
rs17721059
|
0.01316
|
NM_052854.4(CREB3L1):c.454G>A (p.Ala152Thr)
|
rs199951144
|
0.01311
|
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln)
|
rs607969
|
0.01309
|
NM_000271.5(NPC1):c.1300C>T (p.Pro434Ser)
|
rs61731962
|
0.01305
|
NM_002087.4(GRN):c.55C>T (p.Arg19Trp)
|
rs63750723
|
0.01303
|
NM_025137.4(SPG11):c.2083G>A (p.Ala695Thr)
|
rs78183930
|
0.01302
|
NM_015046.7(SETX):c.6507G>A (p.Gly2169=)
|
rs34073320
|
0.01300
|
NM_000548.5(TSC2):c.3883+8C>G
|
rs45517316
|
0.01297
|
NM_025137.4(SPG11):c.1348A>G (p.Ile450Val)
|
rs3759873
|
0.01282
|
NM_025137.4(SPG11):c.6330G>A (p.Gly2110=)
|
rs35932349
|
0.01279
|
NM_001909.5(CTSD):c.1215C>A (p.Gly405=)
|
rs138733377
|
0.01277
|
NM_000546.6(TP53):c.639A>G (p.Arg213=)
|
rs1800372
|
0.01275
|
NM_000053.4(ATP7B):c.1707+9T>C
|
rs114449708
|
0.01274
|
NM_000435.3(NOTCH3):c.1487C>T (p.Pro496Leu)
|
rs11670799
|
0.01273
|
NM_025137.4(SPG11):c.1347C>T (p.Thr449=)
|
rs3759874
|
0.01269
|
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg)
|
rs76116949
|
0.01253
|
NM_014967.5(FAN1):c.2680C>T (p.Pro894Ser)
|
rs80120912
|
0.01243
|
NM_000096.4(CP):c.2378G>A (p.Arg793His)
|
rs115552500
|
0.01239
|
NM_006218.4(PIK3CA):c.3075C>T (p.Thr1025=)
|
rs17849079
|
0.01239
|
NM_025137.4(SPG11):c.1698T>G (p.Asp566Glu)
|
rs79708848
|
0.01235
|
NM_000051.4(ATM):c.3118A>G (p.Met1040Val)
|
rs3092857
|
0.01233
|
NM_002335.4(LRP5):c.4788C>T (p.Thr1596=)
|
rs113442867
|
0.01233
|
NM_152383.5(DIS3L2):c.1488T>C (p.His496=)
|
rs72998118
|
0.01233
|
NM_001909.5(CTSD):c.189C>T (p.Thr63=)
|
rs114051835
|
0.01221
|
NM_005236.3(ERCC4):c.2624A>G (p.Glu875Gly)
|
rs1800124
|
0.01216
|
NM_001844.5(COL2A1):c.2484G>C (p.Gly828=)
|
rs1793940
|
0.01213
|
NM_001754.5(RUNX1):c.167T>C (p.Leu56Ser)
|
rs111527738
|
0.01206
|
NM_000548.5(TSC2):c.1100G>A (p.Arg367Gln)
|
rs1800725
|
0.01203
|
NM_022089.4(ATP13A2):c.881G>A (p.Arg294Gln)
|
rs56367069
|
0.01203
|
NM_000271.5(NPC1):c.3246-20G>A
|
rs6507717
|
0.01199
|
NM_000393.5(COL5A2):c.98-12T>G
|
rs117917418
|
0.01199
|
NM_152296.5(ATP1A3):c.2264-16C>T
|
rs149116776
|
0.01189
|
NM_000094.4(COL7A1):c.6696C>A (p.Pro2232=)
|
rs61729223
|
0.01181
|
NM_152383.5(DIS3L2):c.426C>T (p.Pro142=)
|
rs73001172
|
0.01166
|
NM_000053.4(ATP7B):c.4302G>A (p.Thr1434=)
|
rs116091486
|
0.01159
|
NM_022725.4(FANCF):c.959C>T (p.Pro320Leu)
|
rs45451294
|
0.01158
|
NM_015268.4(DNAJC13):c.282T>G (p.Leu94=)
|
rs116489157
|
0.01156
|
NM_006129.5(BMP1):c.2450T>C (p.Val817Ala)
|
rs80019749
|
0.01155
|
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe)
|
rs1800058
|
0.01150
|
NM_025099.6(CTC1):c.1383G>A (p.Gln461=)
|
rs145192682
|
0.01148
|
NM_006231.4(POLE):c.2174-8G>A
|
rs117409343
|
0.01137
|
NM_015294.6(TRIM37):c.861-6C>T
|
rs145324030
|
0.01135
|
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=)
|
rs11574895
|
0.01135
|
NM_001711.6(BGN):c.257A>G (p.Lys86Arg)
|
rs146073993
|
0.01131
|
NM_005591.4(MRE11):c.1994+10G>A
|
rs1805366
|
0.01130
|
NM_017763.6(RNF43):c.2280G>A (p.Pro760=)
|
rs61746279
|
0.01112
|
NM_000053.4(ATP7B):c.3366A>G (p.Ala1122=)
|
rs59120265
|
0.01110
|
NM_002878.4(RAD51D):c.698A>G (p.Glu233Gly)
|
rs28363284
|
0.01102
|
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln)
|
rs3219497
|
0.01092
|
NM_000264.5(PTCH1):c.2199A>G (p.Ser733=)
|
rs2227970
|
0.01091
|
NM_000051.4(ATM):c.735C>T (p.Val245=)
|
rs3218674
|
0.01085
|
NM_000053.4(ATP7B):c.3891C>T (p.Val1297=)
|
rs114771537
|
0.01071
|
NM_002335.4(LRP5):c.3918G>A (p.Ala1306=)
|
rs11574425
|
0.01064
|
NM_000157.4(GBA1):c.1093G>A (p.Glu365Lys)
|
rs2230288
|
0.01061
|
NM_005633.4(SOS1):c.1203-20T>C
|
rs112906251
|
0.01058
|
NM_000271.5(NPC1):c.709C>T (p.Pro237Ser)
|
rs80358251
|
0.01055
|
NM_000138.5(FBN1):c.3294C>T (p.Asp1098=)
|
rs140587
|
0.01051
|
NM_198578.4(LRRK2):c.4937T>C (p.Met1646Thr)
|
rs35303786
|
0.01047
|
NM_000360.4(TH):c.1200+9C>T
|
rs11564717
|
0.01045
|
NM_004260.4(RECQL4):c.161A>G (p.Gln54Arg)
|
rs35198096
|
0.01041
|
NM_001177693.2(ARHGEF28):c.840+9A>G
|
rs143387976
|
0.01039
|
NM_002834.5(PTPN11):c.525+12G>C
|
rs41304351
|
0.01035
|
NM_003072.5(SMARCA4):c.1114T>C (p.Tyr372His)
|
rs140192268
|
0.01034
|
NM_000501.4(ELN):c.427+8C>T
|
rs55868272
|
0.01032
|
NM_053025.4(MYLK):c.1327C>T (p.Pro443Ser)
|
rs35156360
|
0.01032
|
NM_003924.4(PHOX2B):c.552C>T (p.Ser184=)
|
rs17885216
|
0.01029
|
NM_001844.5(COL2A1):c.1545C>A (p.Arg515=)
|
rs41317925
|
0.01027
|
NM_002474.3(MYH11):c.387A>G (p.Lys129=)
|
rs78754138
|
0.01024
|
NM_000096.4(CP):c.2286-12T>G
|
rs183671127
|
0.01016
|
NM_001382430.1(AKT1):c.1251C>T (p.Tyr417=)
|
rs139297659
|
0.01008
|
NM_198428.3(BBS9):c.2299-20A>C
|
rs17727583
|
0.01007
|
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser)
|
rs1805318
|
0.01006
|
NM_002335.4(LRP5):c.4574C>T (p.Ala1525Val)
|
rs1127291
|
0.01003
|
NM_001114753.3(ENG):c.572G>A (p.Gly191Asp)
|
rs41322046
|
0.01000
|
NM_001048174.2(MUTYH):c.1460C>T (p.Ser487Phe)
|
rs140118273
|
0.00997
|
NM_001288705.3(CSF1R):c.1237G>A (p.Gly413Ser)
|
rs34951517
|
0.00996
|
NM_001457.4(FLNB):c.6017A>G (p.Lys2006Arg)
|
rs62621996
|
0.00994
|
NM_198241.3(EIF4G1):c.4383C>T (p.Phe1461=)
|
rs111921843
|
0.00983
|
NM_006059.4(LAMC3):c.454C>T (p.Arg152Cys)
|
rs45628035
|
0.00975
|
NM_000546.6(TP53):c.108G>A (p.Pro36=)
|
rs1800370
|
0.00974
|
NM_000093.5(COL5A1):c.2852A>G (p.Asn951Ser)
|
rs61736966
|
0.00972
|
NM_006767.4(LZTR1):c.2219+13C>T
|
rs144005025
|
0.00972
|
NM_000222.3(KIT):c.67+4G>A
|
rs72550820
|
0.00969
|
NM_032444.4(SLX4):c.1153C>A (p.Pro385Thr)
|
rs115694169
|
0.00968
|
NM_177438.3(DICER1):c.1935G>A (p.Pro645=)
|
rs61751177
|
0.00958
|
NM_001367624.2(ZNF469):c.9004A>C (p.Met3002Leu)
|
rs141776185
|
0.00951
|
NM_025137.4(SPG11):c.6319G>A (p.Val2107Ile)
|
rs115970214
|
0.00950
|
NM_000548.5(TSC2):c.5321G>C (p.Ser1774Thr)
|
rs9209
|
0.00948
|
NM_001972.4(ELANE):c.655G>A (p.Val219Ile)
|
rs17216656
|
0.00945
|
NM_005236.3(ERCC4):c.252C>T (p.Leu84=)
|
rs3136056
|
0.00941
|
NM_000123.4(ERCC5):c.960C>T (p.Asp320=)
|
rs4150314
|
0.00931
|
NM_018713.3(SLC30A10):c.640+10G>A
|
rs79328219
|
0.00931
|
NM_014822.4(SEC24D):c.653C>G (p.Ala218Gly)
|
rs35392900
|
0.00928
|
NM_015268.4(DNAJC13):c.2292-6G>A
|
rs35575948
|
0.00927
|
NM_000249.4(MLH1):c.1732-19T>A
|
rs77120160
|
0.00923
|
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro)
|
rs33927012
|
0.00921
|
NM_024675.4(PALB2):c.925A>G (p.Ile309Val)
|
rs3809683
|
0.00919
|
NM_000038.6(APC):c.2608C>T (p.Pro870Ser)
|
rs33974176
|
0.00917
|
NM_000249.4(MLH1):c.1959G>T (p.Leu653=)
|
rs1800146
|
0.00913
|
NM_000245.4(MET):c.2975C>T (p.Thr992Ile)
|
rs56391007
|
0.00911
|
NM_006493.4(CLN5):c.579C>A (p.Asn193Lys)
|
rs138611001
|
0.00910
|
NM_014822.4(SEC24D):c.1576C>T (p.Leu526Phe)
|
rs141180741
|
0.00908
|
NM_001040108.2(MLH3):c.8A>G (p.Lys3Arg)
|
rs114829239
|
0.00905
|
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr)
|
rs5744991
|
0.00898
|
NM_017617.5(NOTCH1):c.5011G>A (p.Val1671Ile)
|
rs2229968
|
0.00898
|
NM_003560.4(PLA2G6):c.1027G>A (p.Ala343Thr)
|
rs11570680
|
0.00890
|
NM_001999.4(FBN2):c.1466-5C>T
|
rs28763952
|
0.00887
|
NM_001114753.3(ENG):c.1374A>G (p.Pro458=)
|
rs34828244
|
0.00879
|
NM_020975.6(RET):c.375C>A (p.Val125=)
|
rs1800859
|
0.00877
|
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln)
|
rs17885240
|
0.00863
|
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu)
|
rs1800056
|
0.00861
|
NM_000535.7(PMS2):c.52A>G (p.Ile18Val)
|
rs63750123
|
0.00861
|
NM_016734.3(PAX5):c.964G>A (p.Ala322Thr)
|
rs34810717
|
0.00861
|
NM_152618.3(BBS12):c.714T>G (p.Asn238Lys)
|
rs17006082
|
0.00860
|
NM_001288705.3(CSF1R):c.721A>G (p.Asn241Asp)
|
rs79702016
|
0.00855
|
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala)
|
rs34799090
|
0.00854
|
NM_033305.3(VPS13A):c.6880-19G>C
|
rs183040221
|
0.00852
|
NM_139057.4(ADAMTS17):c.1651G>A (p.Ala551Thr)
|
rs61754841
|
0.00851
|
NM_032444.4(SLX4):c.710G>A (p.Arg237Gln)
|
rs138615800
|
0.00848
|
NM_001853.4(COL9A3):c.308G>A (p.Arg103Gln)
|
rs142639450
|
0.00847
|
NM_000088.4(COL1A1):c.1615-4C>A
|
rs41316657
|
0.00846
|
NM_025137.4(SPG11):c.808G>A (p.Val270Ile)
|
rs80338868
|
0.00845
|
NM_001853.4(COL9A3):c.520-6C>T
|
rs45476191
|
0.00844
|
NM_000435.3(NOTCH3):c.5854G>A (p.Val1952Met)
|
rs115582213
|
0.00841
|
NM_002775.5(HTRA1):c.59C>T (p.Ala20Val)
|
rs369149111
|
0.00841
|
NM_001177693.2(ARHGEF28):c.267G>A (p.Val89=)
|
rs17552682
|
0.00840
|
NM_002609.4(PDGFRB):c.1033C>T (p.Pro345Ser)
|
rs2229558
|
0.00834
|
NM_002335.4(LRP5):c.266A>G (p.Gln89Arg)
|
rs41494349
|
0.00826
|
NM_020937.4(FANCM):c.5224A>G (p.Ile1742Val)
|
rs143662421
|
0.00824
|
NM_004385.5(VCAN):c.7419C>T (p.Ser2473=)
|
rs61754536
|
0.00819
|
NM_000249.4(MLH1):c.637G>A (p.Val213Met)
|
rs2308317
|
0.00818
|
NM_000478.6(ALPL):c.455G>A (p.Arg152His)
|
rs149344982
|
0.00814
|
NM_003072.5(SMARCA4):c.4768+15G>C
|
rs113131294
|
0.00813
|
NM_000428.3(LTBP2):c.1553G>T (p.Ser518Ile)
|
rs137854857
|
0.00812
|
NM_003332.4(TYROBP):c.163G>T (p.Val55Leu)
|
rs77782321
|
0.00810
|
NM_000096.4(CP):c.3182-4A>G
|
rs34272112
|
0.00805
|
NM_002609.4(PDGFRB):c.1149G>C (p.Leu383=)
|
rs2228439
|
0.00793
|
NM_005633.4(SOS1):c.1964C>T (p.Pro655Leu)
|
rs56219475
|
0.00787
|
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile)
|
rs63750055
|
0.00784
|
NM_001999.4(FBN2):c.3166G>T (p.Ala1056Ser)
|
rs28763945
|
0.00784
|
NM_003105.6(SORL1):c.3295T>C (p.Phe1099Leu)
|
rs146903951
|
0.00784
|
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro)
|
rs4986761
|
0.00782
|
NM_002087.4(GRN):c.1544G>C (p.Gly515Ala)
|
rs25647
|
0.00781
|
NM_025137.4(SPG11):c.6258G>T (p.Leu2086=)
|
rs150761878
|
0.00781
|
NM_177438.3(DICER1):c.2370G>A (p.Arg790=)
|
rs112712209
|
0.00777
|
NM_000141.5(FGFR2):c.294G>A (p.Thr98=)
|
rs1047101
|
0.00776
|
NM_004370.6(COL12A1):c.6590C>T (p.Thr2197Ile)
|
rs117038107
|
0.00776
|
NM_000393.5(COL5A2):c.1104+15T>C
|
rs75486409
|
0.00772
|
NM_000393.5(COL5A2):c.975C>T (p.Pro325=)
|
rs144344474
|
0.00770
|
NM_000428.3(LTBP2):c.4769T>C (p.Val1590Ala)
|
rs139932140
|
0.00769
|
NM_006218.4(PIK3CA):c.363C>T (p.Ile121=)
|
rs115746478
|
0.00769
|
NM_001367624.2(ZNF469):c.2085C>T (p.Pro695=)
|
rs74547407
|
0.00765
|
NM_002335.4(LRP5):c.3564G>A (p.Arg1188=)
|
rs117289001
|
0.00762
|
NM_152296.5(ATP1A3):c.2487G>A (p.Pro829=)
|
rs45606534
|
0.00759
|
NM_000548.5(TSC2):c.3914C>T (p.Pro1305Leu)
|
rs45517320
|
0.00758
|
NM_000051.4(ATM):c.544G>C (p.Val182Leu)
|
rs3218707
|
0.00757
|
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=)
|
rs201354526
|
0.00754
|
NM_022356.4(P3H1):c.611C>A (p.Pro204His)
|
rs77208721
|
0.00751
|
NM_002474.3(MYH11):c.4158C>T (p.Thr1386=)
|
rs112377790
|
0.00746
|
NM_001177693.2(ARHGEF28):c.4161+16T>C
|
rs200381893
|
0.00742
|
NM_001288705.3(CSF1R):c.2709C>T (p.Phe903=)
|
rs41287094
|
0.00742
|
NM_006432.5(NPC2):c.442-4A>C
|
rs114950106
|
0.00742
|
NM_001457.4(FLNB):c.6956T>C (p.Ile2319Thr)
|
rs116826041
|
0.00739
|
NM_000053.4(ATP7B):c.4311G>A (p.Lys1437=)
|
rs73202048
|
0.00732
|
NM_001110556.2(FLNA):c.3690C>T (p.Thr1230=)
|
rs35015603
|
0.00732
|
NM_001844.5(COL2A1):c.213C>T (p.Asp71=)
|
rs112469769
|
0.00730
|
NM_144997.7(FLCN):c.1538+14T>G
|
rs112111994
|
0.00721
|
NM_002335.4(LRP5):c.687-8G>A
|
rs190810239
|
0.00718
|
NM_018965.4(TREM2):c.185G>A (p.Arg62His)
|
rs143332484
|
0.00714
|
NM_001276270.2(MBD4):c.1073T>C (p.Ile358Thr)
|
rs2307298
|
0.00713
|
NM_000051.4(ATM):c.146C>G (p.Ser49Cys)
|
rs1800054
|
0.00712
|
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe)
|
rs117125761
|
0.00708
|
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp)
|
rs3218772
|
0.00706
|
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser)
|
rs34677591
|
0.00706
|
NM_000038.6(APC):c.4326T>A (p.Pro1442=)
|
rs67622085
|
0.00705
|
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=)
|
rs35593170
|
0.00704
|
NM_001110556.2(FLNA):c.6742C>T (p.Leu2248=)
|
rs113510895
|
0.00698
|
NM_025137.4(SPG11):c.3818A>G (p.Lys1273Arg)
|
rs76389165
|
0.00694
|
NM_003560.4(PLA2G6):c.2340C>T (p.Asn780=)
|
rs138683183
|
0.00691
|
NM_177438.3(DICER1):c.4206+17del
|
rs746189044
|
0.00689
|
NM_007262.5(PARK7):c.293G>A (p.Arg98Gln)
|
rs71653619
|
0.00688
|
NM_033028.5(BBS4):c.137A>G (p.Lys46Arg)
|
rs75295839
|
0.00687
|
NM_080680.3(COL11A2):c.1782C>T (p.Asp594=)
|
rs41266697
|
0.00686
|
NM_003002.4(SDHD):c.149A>G (p.His50Arg)
|
rs11214077
|
0.00679
|
NM_006231.4(POLE):c.1470C>T (p.Asp490=)
|
rs5744777
|
0.00679
|
NM_032444.4(SLX4):c.2924C>T (p.Pro975Leu)
|
rs114472821
|
0.00679
|
NM_000038.6(APC):c.5265G>A (p.Ala1755=)
|
rs34506289
|
0.00675
|
NM_015268.4(DNAJC13):c.4385G>A (p.Arg1462His)
|
rs61748103
|
0.00674
|
NM_033305.3(VPS13A):c.8676C>T (p.Ile2892=)
|
rs117485827
|
0.00672
|
NM_002691.4(POLD1):c.2546G>A (p.Arg849His)
|
rs3218775
|
0.00670
|
NM_004629.2(FANCG):c.988C>T (p.Pro330Ser)
|
rs4986940
|
0.00670
|
NM_000302.4(PLOD1):c.1141G>A (p.Val381Met)
|
rs2230896
|
0.00668
|
NM_004606.5(TAF1):c.87C>G (p.Ala29=)
|
rs28382145
|
0.00668
|
NM_025103.4(IFT74):c.1735G>A (p.Val579Met)
|
rs138591335
|
0.00667
|
NM_017696.3(MCM9):c.2693C>T (p.Ser898Phe)
|
rs3751444
|
0.00666
|
NM_024426.6(WT1):c.785-20G>T
|
rs5030168
|
0.00663
|
NM_000142.5(FGFR3):c.1076-13C>T
|
rs114754024
|
0.00661
|
NM_000791.4(DHFR):c.-259C>T
|
rs6151597
|
0.00658
|
NM_005633.4(SOS1):c.1074+5G>C
|
rs145155424
|
0.00655
|
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_001909.5(CTSD):c.844G>A (p.Gly282Arg)
|
rs147278302
|
0.00650
|
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile)
|
rs1800060
|
0.00649
|
NM_003738.5(PTCH2):c.1080G>T (p.Val360=)
|
rs11573579
|
0.00649
|
NM_032444.4(SLX4):c.1803G>A (p.Ser601=)
|
rs144892556
|
0.00649
|
NM_016169.4(SUFU):c.1018G>T (p.Ala340Ser)
|
rs34135067
|
0.00646
|
NM_006059.4(LAMC3):c.146A>G (p.Gln49Arg)
|
rs201962705
|
0.00645
|
NM_003742.4(ABCB11):c.3330G>A (p.Ala1110=)
|
rs113099601
|
0.00643
|
NM_017449.5(EPHB2):c.2625A>G (p.Gln875=)
|
rs55993650
|
0.00638
|
NM_032444.4(SLX4):c.1755C>T (p.Pro585=)
|
rs114016359
|
0.00638
|
NM_053025.4(MYLK):c.2101G>A (p.Ala701Thr)
|
rs142835596
|
0.00637
|
NM_000455.5(STK11):c.369G>A (p.Gln123=)
|
rs140112347
|
0.00636
|
NM_003332.4(TYROBP):c.94+10G>C
|
rs55746266
|
0.00630
|
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met)
|
rs75548401
|
0.00627
|
NM_000447.3(PSEN2):c.756G>C (p.Ala252=)
|
rs147702142
|
0.00621
|
NM_000071.3(CBS):c.1145+7C>T
|
rs201158177
|
0.00620
|
NM_007126.5(VCP):c.1092C>T (p.Asp364=)
|
rs61752947
|
0.00619
|
NM_014845.6(FIG4):c.447-16G>T
|
rs200890189
|
0.00618
|
NM_000071.3(CBS):c.573G>A (p.Thr191=)
|
rs73906420
|
0.00615
|
NM_033305.3(VPS13A):c.9400-15A>C
|
rs117688596
|
0.00615
|
NM_000051.4(ATM):c.5793T>C (p.Ala1931=)
|
rs3092910
|
0.00608
|
NM_006231.4(POLE):c.776G>A (p.Arg259His)
|
rs61732929
|
0.00604
|
NM_033305.3(VPS13A):c.6379-17T>G
|
rs373072093
|
0.00604
|
NM_000093.5(COL5A1):c.4135C>T (p.Pro1379Ser)
|
rs61739195
|
0.00598
|
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=)
|
rs74318065
|
0.00596
|
NM_001044.5(SLC6A3):c.162C>T (p.Pro54=)
|
rs6351
|
0.00589
|
NM_000548.5(TSC2):c.3422C>T (p.Ala1141Val)
|
rs34870424
|
0.00587
|
NM_017617.5(NOTCH1):c.64C>T (p.Pro22Ser)
|
rs114832250
|
0.00587
|
NM_022089.4(ATP13A2):c.1195+10G>A
|
rs55689004
|
0.00585
|
NM_000038.6(APC):c.1959G>A (p.Arg653=)
|
rs72541809
|
0.00583
|
NM_007356.3(LAMB4):c.350G>C (p.Arg117Thr)
|
rs149874137
|
0.00583
|
NM_033305.3(VPS13A):c.3645C>A (p.Ala1215=)
|
rs138687767
|
0.00582
|
NM_000088.4(COL1A1):c.4113G>A (p.Lys1371=)
|
rs41316723
|
0.00578
|
NM_152618.3(BBS12):c.116T>C (p.Ile39Thr)
|
rs138036823
|
0.00577
|
NM_015268.4(DNAJC13):c.2369C>A (p.Ser790Tyr)
|
rs149121829
|
0.00575
|
NM_033305.3(VPS13A):c.6410A>G (p.Glu2137Gly)
|
rs114232513
|
0.00574
|
NM_001999.4(FBN2):c.3762C>T (p.Asp1254=)
|
rs2279582
|
0.00570
|
NM_001972.4(ELANE):c.770C>T (p.Pro257Leu)
|
rs17216663
|
0.00569
|
NM_014822.4(SEC24D):c.578C>T (p.Pro193Leu)
|
rs6844109
|
0.00569
|
NM_000051.4(ATM):c.186-7C>T
|
rs55674039
|
0.00568
|
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg)
|
rs17233141
|
0.00567
|
NM_000179.3(MSH6):c.1186C>G (p.Leu396Val)
|
rs2020908
|
0.00565
|
NM_004260.4(RECQL4):c.309G>A (p.Pro103=)
|
rs4251688
|
0.00564
|
NM_000088.4(COL1A1):c.3897C>T (p.Cys1299=)
|
rs34940368
|
0.00563
|
NM_000138.5(FBN1):c.5343G>A (p.Val1781=)
|
rs140649
|
0.00561
|
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=)
|
rs35980907
|
0.00561
|
NM_001909.5(CTSD):c.1072-7G>A
|
rs149019571
|
0.00560
|
NM_012200.4(B3GAT3):c.821C>A (p.Thr274Asn)
|
rs112223093
|
0.00560
|
NM_017617.5(NOTCH1):c.6991G>A (p.Ala2331Thr)
|
rs111309246
|
0.00557
|
NM_000138.5(FBN1):c.2855-9C>T
|
rs140590
|
0.00556
|
NM_006231.4(POLE):c.6494G>A (p.Arg2165His)
|
rs5745068
|
0.00550
|
NM_006767.4(LZTR1):c.1209C>T (p.Phe403=)
|
rs145833752
|
0.00550
|
NM_002087.4(GRN):c.264+7G>A
|
rs60100877
|
0.00548
|
NM_003072.5(SMARCA4):c.1419+7T>C
|
rs112977340
|
0.00546
|
NM_176824.3(BBS7):c.1512-7A>T
|
rs115987385
|
0.00545
|
NM_001048174.2(MUTYH):c.421-4A>G
|
rs201678305
|
0.00541
|
NM_003738.5(PTCH2):c.840T>C (p.Ser280=)
|
rs147627670
|
0.00534
|
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys)
|
rs149840356
|
0.00532
|
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg)
|
rs138789658
|
0.00530
|
NM_001257180.2(SLC20A2):c.909G>A (p.Ala303=)
|
rs75248974
|
0.00528
|
NM_000447.3(PSEN2):c.1176C>T (p.Phe392=)
|
rs115652716
|
0.00524
|
NM_000137.4(FAH):c.315-14G>A
|
rs139830755
|
0.00521
|
NM_025137.4(SPG11):c.993C>T (p.Ser331=)
|
rs76823973
|
0.00519
|
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_033305.3(VPS13A):c.8228A>C (p.Lys2743Thr)
|
rs138308486
|
0.00517
|
NM_013444.4(UBQLN2):c.1461C>A (p.Thr487=)
|
rs45559331
|
0.00516
|
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe)
|
rs73155056
|
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_198241.3(EIF4G1):c.4551C>T (p.Asp1517=)
|
rs11559218
|
0.00509
|
NM_003072.5(SMARCA4):c.2388C>T (p.Leu796=)
|
rs28997580
|
0.00508
|
NM_015909.4(NBAS):c.711T>C (p.His237=)
|
rs75347158
|
0.00508
|
NM_170784.3(MKKS):c.724G>T (p.Ala242Ser)
|
rs74315394
|
0.00508
|
NM_022089.4(ATP13A2):c.453C>T (p.Ser151=)
|
rs55979991
|
0.00505
|
NM_000057.4(BLM):c.3960C>T (p.Pro1320=)
|
rs56009845
|
0.00502
|
NM_001257180.2(SLC20A2):c.1008C>T (p.His336=)
|
rs111553899
|
0.00499
|
NM_053025.4(MYLK):c.4764G>A (p.Pro1588=)
|
rs56056823
|
0.00499
|
NM_001854.4(COL11A1):c.2578T>A (p.Phe860Ile)
|
rs141548164
|
0.00498
|
NM_006231.4(POLE):c.1359+9G>A
|
rs75135381
|
0.00498
|
NM_001288705.3(CSF1R):c.282C>T (p.Ser94=)
|
rs41287102
|
0.00495
|
NM_015268.4(DNAJC13):c.3942G>A (p.Pro1314=)
|
rs35658317
|
0.00494
|
NM_033305.3(VPS13A):c.9150G>A (p.Pro3050=)
|
rs143089318
|
0.00488
|
NM_003900.5(SQSTM1):c.183C>T (p.Gly61=)
|
rs767340839
|
0.00487
|
NM_017849.4(TMEM127):c.409+7C>T
|
rs189327749
|
0.00487
|
NM_002691.4(POLD1):c.1275C>T (p.Ala425=)
|
rs3219392
|
0.00486
|
NM_000142.5(FGFR3):c.663G>A (p.Ser221=)
|
rs114421370
|
0.00485
|
NM_002775.5(HTRA1):c.337G>T (p.Ala113Ser)
|
rs140088745
|
0.00485
|
NM_000096.4(CP):c.1275T>C (p.Tyr425=)
|
rs34237139
|
0.00484
|
NM_004370.6(COL12A1):c.9083G>A (p.Arg3028His)
|
rs41266761
|
0.00484
|
NM_015046.7(SETX):c.4755T>G (p.Pro1585=)
|
rs151237267
|
0.00484
|
NM_018112.3(TMEM38B):c.113-7A>G
|
rs186864213
|
0.00484
|
NM_002137.4(HNRNPA2B1):c.645T>C (p.Phe215=)
|
rs117082250
|
0.00481
|
NM_002474.3(MYH11):c.4522A>G (p.Met1508Val)
|
rs35176378
|
0.00480
|
NM_003105.6(SORL1):c.5439T>A (p.His1813Gln)
|
rs62622819
|
0.00480
|
NM_000071.3(CBS):c.531+11G>A
|
rs186114513
|
0.00479
|
NM_000251.3(MSH2):c.1666T>C (p.Leu556=)
|
rs61756466
|
0.00471
|
NM_203447.4(DOCK8):c.3573C>T (p.Ser1191=)
|
rs13285348
|
0.00471
|
NM_001909.5(CTSD):c.353-12C>T
|
rs141523461
|
0.00468
|
NM_001367624.2(ZNF469):c.5414C>A (p.Pro1805His)
|
rs78446958
|
0.00467
|
NM_002485.5(NBN):c.1882G>A (p.Glu628Lys)
|
rs115321485
|
0.00466
|
NM_000096.4(CP):c.1348+9T>C
|
rs35272481
|
0.00465
|
NM_000271.5(NPC1):c.2073G>A (p.Pro691=)
|
rs113013085
|
0.00465
|
NM_024426.6(WT1):c.1114-9T>C
|
rs5030274
|
0.00465
|
NM_000368.5(TSC1):c.3282G>A (p.Glu1094=)
|
rs116747861
|
0.00461
|
NM_003000.3(SDHB):c.24C>T (p.Ser8=)
|
rs148738139
|
0.00461
|
NM_012186.3(FOXE3):c.587G>C (p.Gly196Ala)
|
rs281865461
|
0.00458
|
NM_001257180.2(SLC20A2):c.1812C>T (p.Ala604=)
|
rs116401889
|
0.00456
|
NM_001844.5(COL2A1):c.1221C>T (p.Ser407=)
|
rs150865922
|
0.00456
|
NM_015268.4(DNAJC13):c.5855A>C (p.Asn1952Thr)
|
rs61731474
|
0.00454
|
NM_024675.4(PALB2):c.2794G>A (p.Val932Met)
|
rs45624036
|
0.00449
|
NM_000090.4(COL3A1):c.2022+5T>C
|
rs41263765
|
0.00448
|
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala)
|
rs2020912
|
0.00448
|
NM_001110556.2(FLNA):c.1176G>A (p.Glu392=)
|
rs201173693
|
0.00446
|
NM_000053.4(ATP7B):c.1728G>A (p.Ala576=)
|
rs116703544
|
0.00442
|
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)
|
rs1801673
|
0.00441
|
NM_000138.5(FBN1):c.6594C>T (p.Pro2198=)
|
rs111844882
|
0.00439
|
NM_006258.4(PRKG1):c.426C>T (p.Asp142=)
|
rs55754654
|
0.00439
|
NM_000057.4(BLM):c.4076+4T>G
|
rs183176301
|
0.00436
|
NM_000138.5(FBN1):c.1746C>T (p.Cys582=)
|
rs112366266
|
0.00436
|
NM_000447.3(PSEN2):c.861C>T (p.Pro287=)
|
rs75733498
|
0.00436
|
NM_001457.4(FLNB):c.4872C>T (p.Ile1624=)
|
rs147426569
|
0.00436
|
NM_000096.4(CP):c.2522C>G (p.Thr841Arg)
|
rs56033670
|
0.00435
|
NM_000138.5(FBN1):c.4905C>G (p.Thr1635=)
|
rs113115949
|
0.00435
|
NM_005235.3(ERBB4):c.2202A>G (p.Lys734=)
|
rs34926094
|
0.00435
|
NM_000057.4(BLM):c.410A>G (p.Lys137Arg)
|
rs28384988
|
0.00434
|
NM_000179.3(MSH6):c.457+13A>G
|
rs1800933
|
0.00434
|
NM_004656.4(BAP1):c.2057-4G>T
|
rs149499021
|
0.00433
|
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)
|
rs2227922
|
0.00431
|
NM_000088.4(COL1A1):c.4281T>C (p.Ile1427=)
|
rs41316725
|
0.00431
|
NM_015046.7(SETX):c.7640T>C (p.Ile2547Thr)
|
rs151117904
|
0.00431
|
NM_004168.4(SDHA):c.969C>T (p.Gly323=)
|
rs142849100
|
0.00430
|
NM_000179.3(MSH6):c.1345C>T (p.Leu449=)
|
rs3136333
|
0.00429
|
NM_001288705.3(CSF1R):c.1626+13G>A
|
rs115895865
|
0.00429
|
NM_004260.4(RECQL4):c.1090G>A (p.Val364Met)
|
rs144637135
|
0.00427
|
NM_006129.5(BMP1):c.1112G>A (p.Arg371His)
|
rs145284541
|
0.00427
|
NM_006262.4(PRPH):c.996+1G>A
|
rs73112142
|
0.00426
|
NM_000094.4(COL7A1):c.1907G>T (p.Gly636Val)
|
rs116005007
|
0.00425
|
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr)
|
rs56815840
|
0.00424
|
NM_002317.7(LOX):c.740+6G>A
|
rs41478244
|
0.00424
|
NM_031885.5(BBS2):c.805-20A>G
|
rs41280892
|
0.00423
|
NM_001999.4(FBN2):c.6615C>T (p.Asp2205=)
|
rs28763931
|
0.00422
|
NM_002608.4(PDGFB):c.635C>T (p.Thr212Met)
|
rs114786489
|
0.00422
|
NM_005732.4(RAD50):c.2910C>T (p.Asp970=)
|
rs148269640
|
0.00422
|
NM_000245.4(MET):c.504G>T (p.Glu168Asp)
|
rs55985569
|
0.00420
|
NM_030957.4(ADAMTS10):c.217G>A (p.Glu73Lys)
|
rs61750006
|
0.00419
|
NM_003036.4(SKI):c.1834C>T (p.Leu612=)
|
rs35833638
|
0.00418
|
NM_015909.4(NBAS):c.3282T>C (p.His1094=)
|
rs139891797
|
0.00418
|
NM_001257180.2(SLC20A2):c.345G>A (p.Thr115=)
|
rs34124953
|
0.00417
|
NM_033305.3(VPS13A):c.2037+8C>A
|
rs41289961
|
0.00417
|
NM_031448.6(C19orf12):c.69G>A (p.Ala23=)
|
rs201118405
|
0.00414
|
NM_203447.4(DOCK8):c.3701-17C>T
|
rs376111035
|
0.00409
|
NM_012179.4(FBXO7):c.122+9G>A
|
rs192327462
|
0.00407
|
NM_006218.4(PIK3CA):c.2298T>G (p.Leu766=)
|
rs116164892
|
0.00404
|
NM_053025.4(MYLK):c.1516A>G (p.Arg506Gly)
|
rs77323602
|
0.00404
|
NM_001367624.2(ZNF469):c.7675A>G (p.Lys2559Glu)
|
rs146789160
|
0.00403
|
NM_005235.3(ERBB4):c.882A>G (p.Pro294=)
|
rs77309171
|
0.00403
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
NM_001042432.2(CLN3):c.771G>A (p.Glu257=)
|
rs73533466
|
0.00402
|
NM_003742.4(ABCB11):c.2134T>C (p.Leu712=)
|
rs191649793
|
0.00401
|
NM_014967.5(FAN1):c.1944-4T>C
|
rs200971774
|
0.00399
|
NM_000251.3(MSH2):c.1662-9G>A
|
rs17218356
|
0.00398
|
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu)
|
rs112306990
|
0.00398
|
NM_004360.5(CDH1):c.532-18C>T
|
rs200673941
|
0.00398
|
NM_014845.6(FIG4):c.27C>T (p.Ile9=)
|
rs141040807
|
0.00398
|
NM_017617.5(NOTCH1):c.6870C>T (p.Ser2290=)
|
rs61751488
|
0.00398
|
NM_033305.3(VPS13A):c.5884C>T (p.Arg1962Cys)
|
rs149694033
|
0.00397
|
NM_004655.4(AXIN2):c.1410C>T (p.His470=)
|
rs149483825
|
0.00394
|
NM_001084.5(PLOD3):c.1797G>A (p.Arg599=)
|
rs139049819
|
0.00393
|
NM_001005498.4(RHBDF2):c.1812G>A (p.Val604=)
|
rs138683747
|
0.00390
|
NM_001853.4(COL9A3):c.410T>C (p.Leu137Pro)
|
rs147947060
|
0.00389
|
NM_002335.4(LRP5):c.4000+9C>T
|
rs148685646
|
0.00389
|
NM_004168.4(SDHA):c.456+20G>C
|
rs193283468
|
0.00385
|
NM_002474.3(MYH11):c.2520+17A>G
|
rs185697714
|
0.00383
|
NM_015909.4(NBAS):c.4659+12C>G
|
rs114354862
|
0.00382
|
NM_000057.4(BLM):c.1722A>G (p.Leu574=)
|
rs28385011
|
0.00379
|
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)
|
rs41276738
|
0.00377
|
NM_017617.5(NOTCH1):c.4536C>T (p.Ala1512=)
|
rs61751540
|
0.00377
|
NM_001614.5(ACTG1):c.-6-3C>T
|
rs140724578
|
0.00374
|
NM_003900.5(SQSTM1):c.984G>A (p.Ser328=)
|
rs146164139
|
0.00374
|
NM_000271.5(NPC1):c.3450C>T (p.Asn1150=)
|
rs34715591
|
0.00373
|
NM_002335.4(LRP5):c.4635C>T (p.Thr1545=)
|
rs145406397
|
0.00373
|
NM_000138.5(FBN1):c.306C>T (p.Cys102=)
|
rs25388
|
0.00372
|
NM_006206.6(PDGFRA):c.2778C>T (p.Tyr926=)
|
rs138519829
|
0.00372
|
NM_004260.4(RECQL4):c.3314G>A (p.Gly1105Asp)
|
rs36078464
|
0.00371
|
NM_000302.4(PLOD1):c.802A>G (p.Thr268Ala)
|
rs74354225
|
0.00370
|
NM_000435.3(NOTCH3):c.3719-11C>T
|
rs78907190
|
0.00367
|
NM_004064.5(CDKN1B):c.426G>A (p.Thr142=)
|
rs149775942
|
0.00366
|
NM_004656.4(BAP1):c.1729+8T>C
|
rs150945583
|
0.00364
|
NM_015046.7(SETX):c.3568A>G (p.Lys1190Glu)
|
rs35473230
|
0.00364
|
NM_000051.4(ATM):c.5497-15G>C
|
rs3092828
|
0.00363
|
NM_000271.5(NPC1):c.3598A>G (p.Ser1200Gly)
|
rs35248744
|
0.00363
|
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)
|
rs17227403
|
0.00362
|
NM_000548.5(TSC2):c.2031C>T (p.Pro677=)
|
rs45517208
|
0.00361
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_006059.4(LAMC3):c.4092C>T (p.Ser1364=)
|
rs141724499
|
0.00360
|
NM_000138.5(FBN1):c.3082+8del
|
rs193922196
|
0.00359
|
NM_000360.4(TH):c.267G>A (p.Arg89=)
|
rs76240471
|
0.00359
|
NM_003977.4(AIP):c.100-18C>T
|
rs202156895
|
0.00359
|
NM_015046.7(SETX):c.6108A>G (p.Gly2036=)
|
rs35815657
|
0.00358
|
NM_001114753.3(ENG):c.120C>T (p.Gly40=)
|
rs41522944
|
0.00355
|
NM_000271.5(NPC1):c.2731G>A (p.Gly911Ser)
|
rs34302553
|
0.00354
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_001114753.3(ENG):c.1096G>C (p.Asp366His)
|
rs1800956
|
0.00353
|
NM_001288705.3(CSF1R):c.2841T>C (p.Ser947=)
|
rs148054244
|
0.00353
|
NM_018325.5(C9orf72):c.1404C>T (p.Phe468=)
|
rs141063383
|
0.00352
|
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)
|
rs121918166
|
0.00350
|
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr)
|
rs61758784
|
0.00349
|
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu)
|
rs59912467
|
0.00348
|
NM_000484.4(APP):c.2124C>T (p.Gly708=)
|
rs148888161
|
0.00348
|
NM_000535.7(PMS2):c.1266G>A (p.Glu422=)
|
rs138049175
|
0.00348
|
NM_005235.3(ERBB4):c.2745C>T (p.Thr915=)
|
rs75536447
|
0.00347
|
NM_000057.4(BLM):c.893C>T (p.Thr298Met)
|
rs28384991
|
0.00346
|
NM_000093.5(COL5A1):c.5270C>T (p.Thr1757Met)
|
rs2229817
|
0.00346
|
NM_153638.4(PANK2):c.137A>T (p.Asp46Val)
|
rs148036492
|
0.00346
|
NM_016938.5(EFEMP2):c.277G>A (p.Gly93Ser)
|
rs2234462
|
0.00344
|
NM_182943.3(PLOD2):c.652A>G (p.Ile218Val)
|
rs145809663
|
0.00344
|
NM_000094.4(COL7A1):c.54G>C (p.Ala18=)
|
rs35899847
|
0.00343
|
NM_000368.5(TSC1):c.2194C>T (p.His732Tyr)
|
rs118203657
|
0.00343
|
NM_017617.5(NOTCH1):c.2207+10G>A
|
rs191892426
|
0.00343
|
NM_152383.5(DIS3L2):c.702+10T>G
|
rs184764939
|
0.00343
|
NM_000053.4(ATP7B):c.1607T>C (p.Val536Ala)
|
rs138427376
|
0.00342
|
NM_000271.5(NPC1):c.2795+19T>C
|
rs200103695
|
0.00342
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_017617.5(NOTCH1):c.5073G>A (p.Gln1691=)
|
rs61751538
|
0.00341
|
NM_022356.4(P3H1):c.1322A>G (p.Asp441Gly)
|
rs113593896
|
0.00341
|
NM_000093.5(COL5A1):c.2439C>T (p.Asp813=)
|
rs148648778
|
0.00340
|
NM_001122752.2(SERPINI1):c.289G>A (p.Val97Ile)
|
rs61750375
|
0.00340
|
NM_006059.4(LAMC3):c.2891-8C>T
|
rs199535979
|
0.00339
|
NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
NM_001854.4(COL11A1):c.3979-14A>T
|
rs186245518
|
0.00338
|
NM_001367624.2(ZNF469):c.2841G>A (p.Arg947=)
|
rs150435442
|
0.00334
|
NM_000142.5(FGFR3):c.1535-8G>T
|
rs111460786
|
0.00332
|
NM_000548.5(TSC2):c.729C>G (p.Leu243=)
|
rs45473698
|
0.00332
|
NM_001288705.3(CSF1R):c.95T>G (p.Val32Gly)
|
rs56048668
|
0.00332
|
NM_000088.4(COL1A1):c.613C>G (p.Pro205Ala)
|
rs72667032
|
0.00331
|
NM_000053.4(ATP7B):c.2175G>A (p.Arg725=)
|
rs61733684
|
0.00329
|
NM_000142.5(FGFR3):c.1014C>T (p.Thr338=)
|
rs4647928
|
0.00328
|
NM_000245.4(MET):c.2908C>T (p.Arg970Cys)
|
rs34589476
|
0.00327
|
NM_001999.4(FBN2):c.4141C>A (p.His1381Asn)
|
rs78727187
|
0.00327
|
NM_153365.3(TAPT1):c.1565A>G (p.Asn522Ser)
|
rs16893137
|
0.00327
|
NM_002087.4(GRN):c.1227G>A (p.Thr409=)
|
rs140298583
|
0.00326
|
NM_006231.4(POLE):c.4259C>T (p.Ala1420Val)
|
rs41561818
|
0.00325
|
NM_001851.6(COL9A1):c.1395+14T>A
|
rs367801990
|
0.00323
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_001005498.4(RHBDF2):c.1495G>T (p.Asp499Tyr)
|
rs11553545
|
0.00322
|
NM_001365276.2(TNXB):c.4562C>T (p.Ala1521Val)
|
rs146120469
|
0.00321
|
NM_001367624.2(ZNF469):c.6489G>A (p.Gln2163=)
|
rs572299080
|
0.00320
|
NM_021939.4(FKBP10):c.1307T>C (p.Ile436Thr)
|
rs61749879
|
0.00320
|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
NM_000310.4(PPT1):c.363-4G>A
|
rs117284255
|
0.00318
|
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp)
|
rs41511151
|
0.00318
|
NM_017617.5(NOTCH1):c.2542G>A (p.Glu848Lys)
|
rs35136134
|
0.00318
|
NM_000093.5(COL5A1):c.278C>T (p.Ala93Val)
|
rs41306397
|
0.00315
|
NM_004385.5(VCAN):c.4604A>G (p.Glu1535Gly)
|
rs61749614
|
0.00315
|
NM_000053.4(ATP7B):c.3557-6C>T
|
rs140708492
|
0.00314
|
NM_000138.5(FBN1):c.8283A>T (p.Thr2761=)
|
rs146120912
|
0.00314
|
NM_000251.3(MSH2):c.339G>A (p.Lys113=)
|
rs35898375
|
0.00313
|
NM_013444.4(UBQLN2):c.1383G>A (p.Gly461=)
|
rs142250604
|
0.00313
|
NM_006231.4(POLE):c.779G>A (p.Arg260Gln)
|
rs5744752
|
0.00312
|
NM_024675.4(PALB2):c.1572A>G (p.Ser524=)
|
rs45472400
|
0.00312
|
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr)
|
rs35187787
|
0.00311
|
NM_007126.5(VCP):c.1360-14C>G
|
rs144304208
|
0.00311
|
NM_000553.6(WRN):c.95A>G (p.Lys32Arg)
|
rs34477820
|
0.00310
|
NM_004656.4(BAP1):c.1002A>G (p.Leu334=)
|
rs28997577
|
0.00310
|
NM_020975.6(RET):c.166C>A (p.Leu56Met)
|
rs145633958
|
0.00310
|
NM_000038.6(APC):c.3471G>A (p.Glu1157=)
|
rs143927847
|
0.00308
|
NM_006206.6(PDGFRA):c.661C>T (p.Leu221Phe)
|
rs139913632
|
0.00307
|
NM_000435.3(NOTCH3):c.2202C>T (p.Ala734=)
|
rs140040122
|
0.00306
|
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser)
|
rs45474795
|
0.00306
|
NM_000053.4(ATP7B):c.3588C>T (p.Asp1196=)
|
rs11840224
|
0.00305
|
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=)
|
rs17887014
|
0.00305
|
NM_002775.5(HTRA1):c.1221C>T (p.Asp407=)
|
rs11538140
|
0.00305
|
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile)
|
rs4988346
|
0.00305
|
NM_004656.4(BAP1):c.1026C>T (p.Ser342=)
|
rs71651686
|
0.00304
|
NM_004484.4(GPC3):c.1167-8T>C
|
rs182950534
|
0.00303
|
NM_030777.4(SLC2A10):c.674G>A (p.Arg225His)
|
rs34295241
|
0.00302
|
NM_032444.4(SLX4):c.3857C>T (p.Ala1286Val)
|
rs149011965
|
0.00302
|
NM_000271.5(NPC1):c.540C>T (p.Asp180=)
|
rs143656971
|
0.00300
|
NM_005732.4(RAD50):c.280A>C (p.Ile94Leu)
|
rs28903085
|
0.00300
|
NM_014043.4(CHMP2B):c.34+8C>T
|
rs35413339
|
0.00300
|
NM_004655.4(AXIN2):c.1530G>A (p.Thr510=)
|
rs141014640
|
0.00299
|
NM_025077.4(TOE1):c.-45G>A
|
rs2275602
|
0.00299
|
NM_000548.5(TSC2):c.228C>T (p.His76=)
|
rs45517097
|
0.00297
|
NM_003238.6(TGFB2):c.272G>A (p.Arg91His)
|
rs10482721
|
0.00297
|
NM_007126.5(VCP):c.1704A>G (p.Gln568=)
|
rs142577424
|
0.00296
|
NM_004364.5(CEBPA):c.402G>A (p.Ala134=)
|
rs752254340
|
0.00295
|
NM_000053.4(ATP7B):c.2355+13T>G
|
rs139211339
|
0.00293
|
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=)
|
rs28903094
|
0.00293
|
NM_006231.4(POLE):c.16G>C (p.Gly6Arg)
|
rs202220778
|
0.00293
|
NM_015046.7(SETX):c.2216G>A (p.Gly739Glu)
|
rs36024203
|
0.00293
|
NM_022166.4(XYLT1):c.1154C>T (p.Pro385Leu)
|
rs36098987
|
0.00293
|
NM_031157.4(HNRNPA1):c.133-17A>G
|
rs74625894
|
0.00293
|
NM_000142.5(FGFR3):c.393G>A (p.Ser131=)
|
rs55662109
|
0.00292
|
NM_007375.4(TARDBP):c.198T>C (p.Ala66=)
|
rs61730366
|
0.00292
|
NM_002691.4(POLD1):c.1977C>T (p.Ile659=)
|
rs45605236
|
0.00290
|
NM_001257180.2(SLC20A2):c.933C>T (p.Tyr311=)
|
rs115902470
|
0.00289
|
NM_000548.5(TSC2):c.4536C>T (p.Asp1512=)
|
rs35986575
|
0.00288
|
NM_000051.4(ATM):c.3993+5G>T
|
rs3092842
|
0.00287
|
NM_000094.4(COL7A1):c.3359G>A (p.Arg1120Lys)
|
rs2228563
|
0.00287
|
NM_001999.4(FBN2):c.7181T>C (p.Ile2394Thr)
|
rs28763926
|
0.00287
|
NM_002609.4(PDGFRB):c.946G>A (p.Val316Met)
|
rs41287112
|
0.00287
|
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser)
|
rs45568339
|
0.00287
|
NM_000038.6(APC):c.3165A>T (p.Ile1055=)
|
rs61734287
|
0.00286
|
NM_000094.4(COL7A1):c.802C>T (p.Pro268Ser)
|
rs35623035
|
0.00285
|
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met)
|
rs61754061
|
0.00285
|
NM_000543.5(SMPD1):c.1550A>T (p.Glu517Val)
|
rs142787001
|
0.00284
|
NM_006231.4(POLE):c.6820C>G (p.Leu2274Val)
|
rs148788180
|
0.00284
|
NM_000271.5(NPC1):c.1532C>T (p.Thr511Met)
|
rs13381670
|
0.00283
|
NM_000501.4(ELN):c.1566T>A (p.Gly522=)
|
rs61734584
|
0.00283
|
NM_001367624.2(ZNF469):c.1615A>T (p.Ser539Cys)
|
rs189476639
|
0.00283
|
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=)
|
rs61751546
|
0.00283
|
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)
|
rs60986317
|
0.00282
|
NM_000271.5(NPC1):c.1071G>A (p.Ser357=)
|
rs61731964
|
0.00282
|
NM_000088.4(COL1A1):c.4179C>T (p.Ser1393=)
|
rs1800219
|
0.00281
|
NM_000264.5(PTCH1):c.109G>C (p.Gly37Arg)
|
rs199976372
|
0.00281
|
NM_001909.5(CTSD):c.912G>A (p.Pro304=)
|
rs140238987
|
0.00281
|
NM_000057.4(BLM):c.1928G>A (p.Arg643His)
|
rs12720097
|
0.00278
|
NM_001005498.4(RHBDF2):c.1396C>T (p.Arg466Trp)
|
rs143503813
|
0.00278
|
NM_001844.5(COL2A1):c.2334C>T (p.Ala778=)
|
rs35504014
|
0.00278
|
NM_003793.4(CTSF):c.676C>T (p.Arg226Cys)
|
rs143313688
|
0.00277
|
NM_002485.5(NBN):c.1222A>G (p.Lys408Glu)
|
rs34120922
|
0.00276
|
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)
|
rs1800365
|
0.00275
|
NM_000548.5(TSC2):c.4006-8C>T
|
rs45517325
|
0.00275
|
NM_003480.4(MFAP5):c.6G>A (p.Ser2=)
|
rs4132450
|
0.00272
|
NM_005235.3(ERBB4):c.1122T>G (p.His374Gln)
|
rs76603692
|
0.00272
|
NM_000141.5(FGFR2):c.170C>T (p.Ser57Leu)
|
rs56226109
|
0.00271
|
NM_001164760.2(PRKAR1B):c.810G>A (p.Ala270=)
|
rs77809618
|
0.00271
|
NM_004385.5(VCAN):c.1523T>A (p.Ile508Asn)
|
rs143368552
|
0.00271
|
NM_032043.3(BRIP1):c.2097+7G>A
|
rs4988352
|
0.00271
|
NM_004385.5(VCAN):c.9234G>A (p.Glu3078=)
|
rs139453864
|
0.00270
|
NM_025137.4(SPG11):c.6224A>G (p.Asn2075Ser)
|
rs140824939
|
0.00270
|
NM_000368.5(TSC1):c.2646C>T (p.Ala882=)
|
rs118203720
|
0.00269
|
NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met)
|
rs61757691
|
0.00269
|
NM_000271.5(NPC1):c.3343G>T (p.Val1115Phe)
|
rs34226296
|
0.00268
|
NM_005359.6(SMAD4):c.354G>A (p.Ala118=)
|
rs145988618
|
0.00268
|
NM_024649.5(BBS1):c.24T>C (p.Asp8=)
|
rs55848325
|
0.00267
|
NM_000393.5(COL5A2):c.2032-7G>A
|
rs141571092
|
0.00265
|
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser)
|
rs45517419
|
0.00264
|
NM_001257180.2(SLC20A2):c.58T>C (p.Leu20=)
|
rs115993270
|
0.00262
|
NM_003105.6(SORL1):c.5448T>C (p.Tyr1816=)
|
rs150315143
|
0.00262
|
NM_031448.6(C19orf12):c.413A>G (p.Gln138Arg)
|
rs73023451
|
0.00262
|
NM_000551.4(VHL):c.74C>T (p.Pro25Leu)
|
rs35460768
|
0.00261
|
NM_004260.4(RECQL4):c.3435G>C (p.Gln1145His)
|
rs61755066
|
0.00261
|
NM_004360.5(CDH1):c.1680G>C (p.Thr560=)
|
rs35741240
|
0.00261
|
NM_000311.5(PRNP):c.204T>C (p.Pro68=)
|
rs532493114
|
0.00260
|
NM_002609.4(PDGFRB):c.3287C>T (p.Ala1096Val)
|
rs114435947
|
0.00259
|
NM_004168.4(SDHA):c.1413C>T (p.Ile471=)
|
rs34779890
|
0.00259
|
NM_013372.7(GREM1):c.103C>G (p.Pro35Ala)
|
rs111262341
|
0.00259
|
NM_001288705.3(CSF1R):c.2799T>C (p.Gly933=)
|
rs41287092
|
0.00258
|
NM_002474.3(MYH11):c.5691C>T (p.Asn1897=)
|
rs149566621
|
0.00257
|
NM_005157.6(ABL1):c.740A>G (p.Lys247Arg)
|
rs34549764
|
0.00257
|
NM_001367624.2(ZNF469):c.4198C>A (p.Pro1400Thr)
|
rs145158875
|
0.00255
|
NM_001367624.2(ZNF469):c.4472C>T (p.Thr1491Met)
|
rs375045076
|
0.00255
|
NM_004360.5(CDH1):c.324A>G (p.Arg108=)
|
rs116542018
|
0.00255
|
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp)
|
rs41307461
|
0.00255
|
NM_198253.3(TERT):c.1812A>G (p.Ala604=)
|
rs33959226
|
0.00255
|
NM_000093.5(COL5A1):c.4410C>T (p.Pro1470=)
|
rs41310953
|
0.00253
|
NM_002691.4(POLD1):c.433G>A (p.Ala145Thr)
|
rs137953986
|
0.00253
|
NM_006502.3(POLH):c.626G>T (p.Gly209Val)
|
rs2307456
|
0.00253
|
NM_000271.5(NPC1):c.463+19A>G
|
rs117512587
|
0.00252
|
NM_000345.4(SNCA):c.408C>T (p.Tyr136=)
|
rs76642636
|
0.00252
|
NM_001854.4(COL11A1):c.4185C>T (p.Val1395=)
|
rs112577505
|
0.00251
|
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser)
|
rs143638171
|
0.00250
|
NM_015046.7(SETX):c.4660T>G (p.Cys1554Gly)
|
rs112089123
|
0.00250
|
NM_031885.5(BBS2):c.1422G>A (p.Ser474=)
|
rs117033008
|
0.00250
|
NM_000088.4(COL1A1):c.1984-5C>A
|
rs66592376
|
0.00249
|
NM_000400.4(ERCC2):c.699C>T (p.Phe233=)
|
rs141816180
|
0.00248
|
NM_001113378.2(FANCI):c.2997C>T (p.Ser999=)
|
rs138675752
|
0.00248
|
NM_001457.4(FLNB):c.4222+8A>G
|
rs190025781
|
0.00248
|
NM_002615.7(SERPINF1):c.202G>C (p.Val68Leu)
|
rs143827025
|
0.00248
|
NM_005228.5(EGFR):c.3015A>G (p.Glu1005=)
|
rs55737335
|
0.00247
|
NM_004260.4(RECQL4):c.1390+3G>A
|
rs148912524
|
0.00246
|
NM_000051.4(ATM):c.2921+19dup
|
rs56112367
|
0.00245
|
NM_000389.5(CDKN1A):c.251G>A (p.Arg84Gln)
|
rs34916193
|
0.00245
|
NM_000393.5(COL5A2):c.2562C>T (p.Asp854=)
|
rs148430780
|
0.00245
|
NM_000553.6(WRN):c.970A>G (p.Thr324Ala)
|
rs1800390
|
0.00245
|
NM_000090.4(COL3A1):c.1927T>C (p.Leu643=)
|
rs41263757
|
0.00244
|
NM_001711.6(BGN):c.357C>T (p.Leu119=)
|
rs146322407
|
0.00243
|
NM_003072.5(SMARCA4):c.2275-3C>A
|
rs117611401
|
0.00243
|
NM_002474.3(MYH11):c.453G>A (p.Pro151=)
|
rs61734199
|
0.00242
|
NM_198428.3(BBS9):c.2632+9C>A
|
rs148654647
|
0.00242
|
NM_000137.4(FAH):c.1259G>A (p.Ter420=)
|
rs61747586
|
0.00241
|
NM_002474.3(MYH11):c.3828G>A (p.Ala1276=)
|
rs113154524
|
0.00240
|
NM_002335.4(LRP5):c.4431C>T (p.His1477=)
|
rs11574426
|
0.00238
|
NM_017617.5(NOTCH1):c.5175C>T (p.Thr1725=)
|
rs61751536
|
0.00238
|
NM_000179.3(MSH6):c.3439-16C>T
|
rs192614006
|
0.00237
|
NM_001365276.2(TNXB):c.9612C>T (p.Asp3204=)
|
rs61746872
|
0.00237
|
NM_002609.4(PDGFRB):c.2523G>A (p.Lys841=)
|
rs41287108
|
0.00236
|
NM_004360.5(CDH1):c.345G>A (p.Thr115=)
|
rs1801023
|
0.00236
|
NM_005612.5(REST):c.274G>A (p.Gly92Arg)
|
rs61748753
|
0.00236
|
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu)
|
rs139525250
|
0.00236
|
NM_003073.5(SMARCB1):c.628+13C>T
|
rs184021903
|
0.00235
|
NM_004168.4(SDHA):c.313-19G>T
|
rs185555941
|
0.00235
|
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=)
|
rs186453356
|
0.00235
|
NM_053025.4(MYLK):c.3242A>G (p.His1081Arg)
|
rs113491038
|
0.00235
|
NM_000400.4(ERCC2):c.687C>T (p.Ala229=)
|
rs34021577
|
0.00234
|
NM_003072.5(SMARCA4):c.981A>C (p.Pro327=)
|
rs547268941
|
0.00233
|
NM_005633.4(SOS1):c.570C>T (p.Asp190=)
|
rs55980502
|
0.00233
|
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr)
|
rs1800729
|
0.00231
|
NM_000465.4(BARD1):c.1977A>G (p.Arg659=)
|
rs147215925
|
0.00230
|
NM_003900.5(SQSTM1):c.712A>G (p.Lys238Glu)
|
rs11548633
|
0.00229
|
NM_005359.6(SMAD4):c.1086T>C (p.Phe362=)
|
rs1801250
|
0.00228
|
NM_000122.2(ERCC3):c.2111C>T (p.Ser704Leu)
|
rs4150521
|
0.00227
|
NM_001110556.2(FLNA):c.5972C>T (p.Ser1991Leu)
|
rs187029309
|
0.00227
|
NM_001903.5(CTNNA1):c.2013G>A (p.Ala671=)
|
rs28363488
|
0.00226
|
NM_001382430.1(AKT1):c.1020C>T (p.Tyr340=)
|
rs144088506
|
0.00224
|
NM_016938.5(EFEMP2):c.368-4G>A
|
rs111550973
|
0.00223
|
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp)
|
rs201620358
|
0.00223
|
NM_001367624.2(ZNF469):c.7267C>A (p.Pro2423Thr)
|
rs199727372
|
0.00222
|
NM_003900.5(SQSTM1):c.1108T>C (p.Ser370Pro)
|
rs143956614
|
0.00222
|
NM_000089.4(COL1A2):c.594+5A>T
|
rs200744314
|
0.00220
|
NM_000094.4(COL7A1):c.5988C>T (p.Ile1996=)
|
rs146901730
|
0.00220
|
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr)
|
rs45517319
|
0.00219
|
NM_002474.3(MYH11):c.3652-6C>T
|
rs193922630
|
0.00219
|
NM_080680.3(COL11A2):c.3583-5T>C
|
rs183536190
|
0.00219
|
NM_198428.3(BBS9):c.1648A>G (p.Ile550Val)
|
rs150399299
|
0.00219
|
NM_019032.6(ADAMTSL4):c.2829G>A (p.Thr943=)
|
rs76546607
|
0.00218
|
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met)
|
rs141320511
|
0.00217
|
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr)
|
rs41419545
|
0.00217
|
NM_002474.3(MYH11):c.3928G>A (p.Val1310Met)
|
rs7196804
|
0.00216
|
NM_000038.6(APC):c.705A>G (p.Leu235=)
|
rs147036141
|
0.00213
|
NM_000311.5(PRNP):c.372C>G (p.Gly124=)
|
rs201423990
|
0.00213
|
NM_018699.4(PRDM5):c.1283-5C>T
|
rs185134294
|
0.00213
|
NM_000077.5(CDKN2A):c.150+37G>C
|
rs45456595
|
0.00212
|
NM_000094.4(COL7A1):c.5910C>T (p.Phe1970=)
|
rs141290741
|
0.00212
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_001999.4(FBN2):c.829G>A (p.Val277Ile)
|
rs146849637
|
0.00210
|
NM_000548.5(TSC2):c.4908C>T (p.Asp1636=)
|
rs115200071
|
0.00209
|
NM_005866.4(SIGMAR1):c.6G>A (p.Gln2=)
|
rs541251697
|
0.00208
|
NM_006493.4(CLN5):c.-99G>C
|
rs202118652
|
0.00208
|
NM_020919.4(ALS2):c.2241C>T (p.Tyr747=)
|
rs3219160
|
0.00208
|
NM_002335.4(LRP5):c.3107G>A (p.Arg1036Gln)
|
rs61889560
|
0.00207
|
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser)
|
rs147241704
|
0.00207
|
NM_000484.4(APP):c.2212-11_2212-10del
|
rs112965435
|
0.00206
|
NM_002485.5(NBN):c.643C>T (p.Arg215Trp)
|
rs34767364
|
0.00206
|
NM_004168.4(SDHA):c.1623G>A (p.Lys541=)
|
rs35502109
|
0.00206
|
NM_001202.6(BMP4):c.76T>C (p.Leu26=)
|
rs74486266
|
0.00205
|
NM_001999.4(FBN2):c.7471+6G>A
|
rs200998513
|
0.00205
|
NM_080680.3(COL11A2):c.4458T>A (p.Gly1486=)
|
rs143186319
|
0.00204
|
NM_000020.3(ACVRL1):c.1445C>T (p.Ala482Val)
|
rs139142865
|
0.00203
|
NM_001354604.2(MITF):c.880+9C>G
|
rs181810413
|
0.00203
|
NM_000548.5(TSC2):c.1281C>A (p.Ile427=)
|
rs45478892
|
0.00202
|
NM_024675.4(PALB2):c.721A>G (p.Asn241Asp)
|
rs113217267
|
0.00202
|
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu)
|
rs17883862
|
0.00201
|
NM_000051.4(ATM):c.162T>C (p.Tyr54=)
|
rs3218690
|
0.00200
|
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)
|
rs121918007
|
0.00200
|
NM_001113378.2(FANCI):c.3592-8T>C
|
rs185599057
|
0.00200
|
NM_001903.5(CTNNA1):c.589-5T>C
|
rs186236339
|
0.00200
|
NM_033305.3(VPS13A):c.1758T>C (p.Ala586=)
|
rs149037185
|
0.00199
|
NM_001288705.3(CSF1R):c.268C>A (p.Pro90Thr)
|
rs150475750
|
0.00198
|
NM_004168.4(SDHA):c.1551+16C>T
|
rs184954254
|
0.00198
|
NM_001909.5(CTSD):c.639C>G (p.Pro213=)
|
rs146073498
|
0.00197
|
NM_002691.4(POLD1):c.56G>A (p.Arg19His)
|
rs3218773
|
0.00197
|
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro)
|
rs4988347
|
0.00197
|
NM_000389.5(CDKN1A):c.350G>A (p.Cys117Tyr)
|
rs148679597
|
0.00196
|
NM_002335.4(LRP5):c.4089C>T (p.Asp1363=)
|
rs3736229
|
0.00195
|
NM_053025.4(MYLK):c.4620-6C>T
|
rs113607507
|
0.00195
|
NM_003242.6(TGFBR2):c.1062C>T (p.Leu354=)
|
rs113194608
|
0.00194
|
NM_000368.5(TSC1):c.2865C>T (p.Thr955=)
|
rs45468995
|
0.00193
|
NM_024675.4(PALB2):c.1606C>T (p.Leu536=)
|
rs151162255
|
0.00193
|
NM_024675.4(PALB2):c.2256A>G (p.Gly752=)
|
rs147120218
|
0.00193
|
NM_198241.3(EIF4G1):c.1796-3C>T
|
rs190378563
|
0.00193
|
NM_000093.5(COL5A1):c.378G>T (p.Gln126His)
|
rs145178917
|
0.00192
|
NM_014967.5(FAN1):c.149T>G (p.Met50Arg)
|
rs148404807
|
0.00191
|
NM_000551.4(VHL):c.340+5G>C
|
rs61758376
|
0.00190
|
NM_000096.4(CP):c.2571C>T (p.Tyr857=)
|
rs151304828
|
0.00189
|
NM_000249.4(MLH1):c.790+10A>G
|
rs182733777
|
0.00188
|
NM_002485.5(NBN):c.283G>A (p.Asp95Asn)
|
rs61753720
|
0.00188
|
NM_152296.5(ATP1A3):c.154-5C>G
|
rs191645384
|
0.00188
|
NM_018965.4(TREM2):c.469C>T (p.His157Tyr)
|
rs2234255
|
0.00187
|
NM_000096.4(CP):c.2793A>G (p.Leu931=)
|
rs34987997
|
0.00186
|
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_001457.4(FLNB):c.6231C>T (p.Asp2077=)
|
rs145280904
|
0.00184
|
NM_000535.7(PMS2):c.23+10G>C
|
rs192027828
|
0.00182
|
NM_002335.4(LRP5):c.4380C>T (p.Ser1460=)
|
rs11574420
|
0.00182
|
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=)
|
rs61751539
|
0.00182
|
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)
|
rs116987552
|
0.00181
|
NM_004168.4(SDHA):c.1911C>T (p.Val637=)
|
rs11557098
|
0.00180
|
NM_000088.4(COL1A1):c.3531+10C>A
|
rs41316721
|
0.00179
|
NM_003000.3(SDHB):c.423+20T>A
|
rs190139590
|
0.00179
|
NM_004960.4(FUS):c.675C>T (p.Gly225=)
|
rs140003720
|
0.00179
|
NM_015046.7(SETX):c.7114G>A (p.Asp2372Asn)
|
rs150673589
|
0.00178
|
NM_016938.5(EFEMP2):c.1188C>T (p.Ser396=)
|
rs2234473
|
0.00178
|
NM_033305.3(VPS13A):c.7457T>C (p.Ile2486Thr)
|
rs141138349
|
0.00178
|
NM_000089.4(COL1A2):c.808G>A (p.Val270Ile)
|
rs368468
|
0.00177
|
NM_000090.4(COL3A1):c.812G>A (p.Arg271Gln)
|
rs112185887
|
0.00176
|
NM_000222.3(KIT):c.2805T>A (p.Ile935=)
|
rs72549296
|
0.00176
|
NM_000465.4(BARD1):c.33G>T (p.Gln11His)
|
rs143914387
|
0.00176
|
NM_005957.5(MTHFR):c.1555C>T (p.Arg519Cys)
|
rs45496998
|
0.00176
|
NM_014317.5(PDSS1):c.589A>G (p.Lys197Glu)
|
rs116424900
|
0.00176
|
NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=)
|
rs3812602
|
0.00175
|
NM_025137.4(SPG11):c.6759C>G (p.Asp2253Glu)
|
rs141818132
|
0.00175
|
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys)
|
rs150759461
|
0.00174
|
NM_177438.3(DICER1):c.3972G>A (p.Lys1324=)
|
rs45562437
|
0.00174
|
NM_001126049.2(KLLN):c.339_340del (p.Ala115fs)
|
rs749052307
|
0.00173
|
NM_001367624.2(ZNF469):c.1609G>A (p.Val537Met)
|
rs184458982
|
0.00172
|
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His)
|
rs143987857
|
0.00171
|
NM_001457.4(FLNB):c.6684C>T (p.Ile2228=)
|
rs138416613
|
0.00170
|
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_000051.4(ATM):c.5071A>C (p.Ser1691Arg)
|
rs1800059
|
0.00169
|
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His)
|
rs137854475
|
0.00168
|
NM_000314.8(PTEN):c.132C>T (p.Gly44=)
|
rs150651961
|
0.00168
|
NM_006231.4(POLE):c.6453C>T (p.Tyr2151=)
|
rs116076060
|
0.00167
|
NM_053025.4(MYLK):c.399G>T (p.Gln133His)
|
rs140148380
|
0.00167
|
NM_001164760.2(PRKAR1B):c.642C>T (p.Thr214=)
|
rs76061469
|
0.00166
|
NM_003242.6(TGFBR2):c.1602G>A (p.Val534=)
|
rs140818646
|
0.00166
|
NM_004082.5(DCTN1):c.3146G>A (p.Arg1049Gln)
|
rs72659383
|
0.00166
|
NM_004304.5(ALK):c.3594C>T (p.Leu1198=)
|
rs56071005
|
0.00166
|
NM_000051.4(ATM):c.7788+8G>T
|
rs112775908
|
0.00165
|
NM_020919.4(ALS2):c.1816-8C>T
|
rs185911369
|
0.00165
|
NM_177438.3(DICER1):c.20A>G (p.Gln7Arg)
|
rs117358479
|
0.00165
|
NM_003072.5(SMARCA4):c.3045C>T (p.Gly1015=)
|
rs56101423
|
0.00163
|
NM_000096.4(CP):c.2684G>C (p.Gly895Ala)
|
rs139633388
|
0.00162
|
NM_000321.3(RB1):c.42C>T (p.Ala14=)
|
rs148980395
|
0.00162
|
NM_016525.5(UBAP1):c.1266+6C>T
|
rs117985789
|
0.00162
|
NM_001457.4(FLNB):c.6642C>T (p.Phe2214=)
|
rs140786324
|
0.00161
|
NM_005609.4(PYGM):c.660G>A (p.Gln220=)
|
rs142234258
|
0.00161
|
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_000089.4(COL1A2):c.2078G>A (p.Arg693Gln)
|
rs34147460
|
0.00159
|
NM_002609.4(PDGFRB):c.1505G>A (p.Arg502Gln)
|
rs148974733
|
0.00159
|
NM_002691.4(POLD1):c.80A>T (p.Asp27Val)
|
rs150066950
|
0.00159
|
NM_004260.4(RECQL4):c.615C>G (p.Pro205=)
|
rs35639991
|
0.00159
|
NM_004360.5(CDH1):c.2292C>T (p.Asp764=)
|
rs61747636
|
0.00159
|
NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu)
|
rs4150319
|
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_001365276.2(TNXB):c.2030A>G (p.Asp677Gly)
|
rs141190850
|
0.00158
|
NM_001999.4(FBN2):c.2940C>T (p.Cys980=)
|
rs143255082
|
0.00158
|
NM_001999.4(FBN2):c.5448A>G (p.Pro1816=)
|
rs138022198
|
0.00158
|
NM_003000.3(SDHB):c.300T>C (p.Ser100=)
|
rs11541235
|
0.00157
|
NM_000548.5(TSC2):c.5383C>T (p.Arg1795Cys)
|
rs45517423
|
0.00156
|
NM_001110556.2(FLNA):c.1429+8C>T
|
rs202181557
|
0.00156
|
NM_053025.4(MYLK):c.4289-4C>G
|
rs376670657
|
0.00156
|
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=)
|
rs145762491
|
0.00155
|
NM_006767.4(LZTR1):c.1530C>T (p.His510=)
|
rs190714197
|
0.00155
|
NM_025137.4(SPG11):c.4744-6T>C
|
rs147550048
|
0.00153
|
NM_053025.4(MYLK):c.4620-18G>A
|
rs41305835
|
0.00153
|
NM_001999.4(FBN2):c.953-8T>G
|
rs201818403
|
0.00152
|
NM_018965.4(TREM2):c.259G>A (p.Asp87Asn)
|
rs142232675
|
0.00152
|
NM_000053.4(ATP7B):c.1620C>T (p.Leu540=)
|
rs145798966
|
0.00150
|
NM_002474.3(MYH11):c.5566C>T (p.Leu1856=)
|
rs142639688
|
0.00150
|
NM_001042492.3(NF1):c.846G>A (p.Gln282=)
|
rs138840528
|
0.00149
|
NM_000107.3(DDB2):c.127+5T>G
|
rs199965459
|
0.00148
|
NM_000138.5(FBN1):c.3069G>A (p.Lys1023=)
|
rs199789628
|
0.00148
|
NM_000138.5(FBN1):c.8502T>C (p.Thr2834=)
|
rs363847
|
0.00148
|
NM_000393.5(COL5A2):c.1618-19C>G
|
rs189970491
|
0.00148
|
NM_020937.4(FANCM):c.1576C>G (p.Leu526Val)
|
rs144215747
|
0.00147
|
NM_213720.3(CHCHD10):c.41+7G>A
|
rs141526972
|
0.00147
|
NM_018325.5(C9orf72):c.288A>G (p.Ser96=)
|
rs147752518
|
0.00146
|
NM_004360.5(CDH1):c.2440-6C>G
|
rs139757930
|
0.00145
|
NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter)
|
rs150597413
|
0.00144
|
NM_000038.6(APC):c.6921G>A (p.Ser2307=)
|
rs2229993
|
0.00143
|
NM_000249.4(MLH1):c.2146G>A (p.Val716Met)
|
rs35831931
|
0.00143
|
NM_000251.3(MSH2):c.1387-8G>T
|
rs187525243
|
0.00143
|
NM_004004.6(GJB2):c.380G>A (p.Arg127His)
|
rs111033196
|
0.00143
|
NM_004360.5(CDH1):c.1272C>T (p.Val424=)
|
rs61756284
|
0.00143
|
NM_033305.3(VPS13A):c.2170+13T>C
|
rs183087425
|
0.00143
|
NM_000548.5(TSC2):c.1276C>T (p.Leu426=)
|
rs45478593
|
0.00142
|
NM_001457.4(FLNB):c.6741G>A (p.Ser2247=)
|
rs143400214
|
0.00142
|
NM_002691.4(POLD1):c.2967G>A (p.Thr989=)
|
rs3218752
|
0.00142
|
NM_001711.6(BGN):c.111C>T (p.Asn37=)
|
rs145819764
|
0.00141
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_144596.4(TTC8):c.1077C>T (p.Asn359=)
|
rs150896551
|
0.00141
|
NM_000301.5(PLG):c.1469G>A (p.Arg490Gln)
|
rs140537724
|
0.00140
|
NM_001110556.2(FLNA):c.1875C>T (p.Asp625=)
|
rs200660642
|
0.00140
|
NM_001367624.2(ZNF469):c.2270T>G (p.Leu757Arg)
|
rs753664726
|
0.00140
|
NM_001457.4(FLNB):c.4929C>T (p.Ala1643=)
|
rs149070858
|
0.00140
|
NM_007255.3(B4GALT7):c.411C>T (p.Phe137=)
|
rs142951817
|
0.00140
|
NM_152296.5(ATP1A3):c.816G>A (p.Thr272=)
|
rs149898088
|
0.00140
|
NM_000089.4(COL1A2):c.3139G>A (p.Val1047Met)
|
rs35820023
|
0.00139
|
NM_016169.4(SUFU):c.910+14C>T
|
rs202247757
|
0.00139
|
NM_000043.6(FAS):c.580G>A (p.Glu194Lys)
|
rs56006128
|
0.00138
|
NM_000548.5(TSC2):c.5260-15C>T
|
rs45517416
|
0.00138
|
NM_002474.3(MYH11):c.4578+3A>G
|
rs143288748
|
0.00138
|
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)
|
rs150766139
|
0.00138
|
NM_003072.5(SMARCA4):c.859+7T>A
|
rs141461778
|
0.00138
|
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.2555-7A>G
|
rs28763949
|
0.00137
|
NM_005188.4(CBL):c.2190G>C (p.Thr730=)
|
rs143840974
|
0.00137
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_000053.4(ATP7B):c.1278C>T (p.Val426=)
|
rs143556945
|
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_001114753.3(ENG):c.1844C>T (p.Ser615Leu)
|
rs148002300
|
0.00134
|
NM_001999.4(FBN2):c.8364+7A>T
|
rs185052980
|
0.00134
|
NM_012134.3(LMOD1):c.139G>T (p.Val47Leu)
|
rs200871425
|
0.00134
|
NM_001388492.1(HTT):c.3244G>C (p.Asp1082His)
|
rs1065746
|
0.00133
|
NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr)
|
rs142614369
|
0.00132
|
NM_133372.3(FNIP1):c.1553G>A (p.Arg518Gln)
|
rs115209326
|
0.00131
|
NM_002609.4(PDGFRB):c.581T>C (p.Ile194Thr)
|
rs2229560
|
0.00130
|
NM_003242.6(TGFBR2):c.1119G>A (p.Met373Ile)
|
rs35719192
|
0.00130
|
NM_004260.4(RECQL4):c.716C>T (p.Ala239Val)
|
rs146709578
|
0.00129
|
NM_004655.4(AXIN2):c.1807G>C (p.Ala603Pro)
|
rs145353986
|
0.00128
|
NM_020937.4(FANCM):c.2268C>A (p.Arg756=)
|
rs146061601
|
0.00128
|
NM_030777.4(SLC2A10):c.1512G>A (p.Ser504=)
|
rs117587497
|
0.00128
|
NM_177438.3(DICER1):c.4891T>G (p.Ser1631Ala)
|
rs145551486
|
0.00128
|
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=)
|
rs55865524
|
0.00127
|
NM_001110556.2(FLNA):c.6023-10C>G
|
rs72616474
|
0.00127
|
NM_003900.5(SQSTM1):c.350C>T (p.Ala117Val)
|
rs147810437
|
0.00126
|
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)
|
rs4988008
|
0.00125
|
NM_004606.5(TAF1):c.1431A>G (p.Val477=)
|
rs144087024
|
0.00125
|
NM_006231.4(POLE):c.6675C>T (p.Arg2225=)
|
rs149973644
|
0.00125
|
NM_001042492.3(NF1):c.4577+11C>G
|
rs190614908
|
0.00124
|
NM_000455.5(STK11):c.598-8C>T
|
rs373610101
|
0.00123
|
NM_003239.5(TGFB3):c.744C>A (p.Ile248=)
|
rs45477900
|
0.00123
|
NM_000271.5(NPC1):c.612C>T (p.Thr204=)
|
rs151084683
|
0.00122
|
NM_006432.5(NPC2):c.88G>A (p.Val30Met)
|
rs151220873
|
0.00122
|
NM_015046.7(SETX):c.3809C>T (p.Pro1270Leu)
|
rs144334281
|
0.00122
|
NM_000094.4(COL7A1):c.2367C>T (p.Ser789=)
|
rs139521707
|
0.00121
|
NM_001005498.4(RHBDF2):c.2064+7A>G
|
rs201734337
|
0.00121
|
NM_003332.4(TYROBP):c.46C>T (p.Leu16=)
|
rs147393700
|
0.00121
|
NM_005188.4(CBL):c.1858C>T (p.Leu620Phe)
|
rs2227988
|
0.00121
|
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp)
|
rs45478192
|
0.00121
|
NM_024675.4(PALB2):c.3495G>A (p.Ser1165=)
|
rs45439097
|
0.00121
|
NM_177438.3(DICER1):c.5145C>T (p.Leu1715=)
|
rs139500905
|
0.00121
|
NM_000393.5(COL5A2):c.4240G>A (p.Asp1414Asn)
|
rs139229616
|
0.00120
|
NM_001999.4(FBN2):c.8304C>T (p.Asn2768=)
|
rs28763920
|
0.00120
|
NM_001110556.2(FLNA):c.1029C>T (p.Ser343=)
|
rs199853721
|
0.00118
|
NM_018112.3(TMEM38B):c.748C>T (p.Pro250Ser)
|
rs140157299
|
0.00117
|
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys)
|
rs1801155
|
0.00116
|
NM_000532.5(PCCB):c.338G>A (p.Arg113Gln)
|
rs138246328
|
0.00116
|
NM_001457.4(FLNB):c.2493C>T (p.Pro831=)
|
rs145952210
|
0.00116
|
NM_006493.4(CLN5):c.76T>C (p.Trp26Arg)
|
rs199727787
|
0.00116
|
NM_016169.4(SUFU):c.600C>T (p.Ile200=)
|
rs149513330
|
0.00116
|
NM_017617.5(NOTCH1):c.2970-20G>A
|
rs367927174
|
0.00116
|
NM_207346.3(TSEN54):c.83C>T (p.Ser28Leu)
|
rs201089582
|
0.00116
|
NM_001365276.2(TNXB):c.2170C>T (p.Arg724Cys)
|
rs138771398
|
0.00114
|
NM_004736.4(XPR1):c.921G>A (p.Pro307=)
|
rs151270778
|
0.00114
|
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met)
|
rs146344855
|
0.00113
|
NM_001291303.3(FAT4):c.3402A>T (p.Glu1134Asp)
|
rs144768563
|
0.00113
|
NM_001367624.2(ZNF469):c.2653C>G (p.Leu885Val)
|
rs139653501
|
0.00113
|
NM_007126.5(VCP):c.1081+17C>T
|
rs200756991
|
0.00113
|
NM_031885.5(BBS2):c.865A>G (p.Ile289Val)
|
rs150384293
|
0.00113
|
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg)
|
rs28997570
|
0.00113
|
NM_019032.6(ADAMTSL4):c.1893G>A (p.Pro631=)
|
rs112045022
|
0.00112
|
NM_020919.4(ALS2):c.3741T>G (p.Gly1247=)
|
rs3219166
|
0.00112
|
NM_000548.5(TSC2):c.1318G>A (p.Gly440Ser)
|
rs45484298
|
0.00111
|
NM_001367624.2(ZNF469):c.2297G>A (p.Arg766Gln)
|
rs144492145
|
0.00111
|
NM_001999.4(FBN2):c.110C>A (p.Pro37Gln)
|
rs201255083
|
0.00110
|
NM_004369.4(COL6A3):c.8189C>A (p.Ala2730Asp)
|
rs138466455
|
0.00110
|
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg)
|
rs55800493
|
0.00109
|
NM_000059.4(BRCA2):c.1911T>C (p.Gly637=)
|
rs11571652
|
0.00109
|
NM_000138.5(FBN1):c.6681A>C (p.Ser2227=)
|
rs363824
|
0.00109
|
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser)
|
rs142959373
|
0.00109
|
NM_000393.5(COL5A2):c.261G>A (p.Thr87=)
|
rs142044596
|
0.00108
|
NM_001008212.2(OPTN):c.489A>G (p.Glu163=)
|
rs113811959
|
0.00108
|
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=)
|
rs188357478
|
0.00108
|
NM_181882.3(PRX):c.823C>A (p.Leu275Ile)
|
rs200033507
|
0.00108
|
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr)
|
rs112287730
|
0.00107
|
NM_000093.5(COL5A1):c.1383C>T (p.Ile461=)
|
rs61736827
|
0.00106
|
NM_001367624.2(ZNF469):c.10656G>A (p.Pro3552=)
|
rs191234581
|
0.00106
|
NM_053025.4(MYLK):c.1007C>T (p.Pro336Leu)
|
rs35912339
|
0.00106
|
NM_152564.5(VPS13B):c.3516A>G (p.Thr1172=)
|
rs118158347
|
0.00106
|
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser)
|
rs141440861
|
0.00105
|
NM_000271.5(NPC1):c.66A>G (p.Ser22=)
|
rs144415945
|
0.00104
|
NM_003105.6(SORL1):c.6318G>A (p.Gln2106=)
|
rs149393026
|
0.00104
|
NM_004304.5(ALK):c.4785C>T (p.Ala1595=)
|
rs76150405
|
0.00104
|
NM_025103.4(IFT74):c.163A>T (p.Ile55Leu)
|
rs62542664
|
0.00104
|
NM_000271.5(NPC1):c.3198C>T (p.Thr1066=)
|
rs145145840
|
0.00103
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
NM_024675.4(PALB2):c.1194G>A (p.Val398=)
|
rs61755173
|
0.00103
|
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp)
|
rs145643238
|
0.00103
|
NM_024675.4(PALB2):c.909C>T (p.Leu303=)
|
rs145788619
|
0.00101
|
NM_002335.4(LRP5):c.3723A>G (p.Pro1241=)
|
rs139554243
|
0.00100
|
NM_024675.4(PALB2):c.2365C>T (p.Leu789=)
|
rs145805054
|
0.00099
|
NM_000264.5(PTCH1):c.2173C>T (p.Pro725Ser)
|
rs149258400
|
0.00098
|
NM_001854.4(COL11A1):c.1021G>C (p.Glu341Gln)
|
rs144884147
|
0.00098
|
NM_002691.4(POLD1):c.1620C>T (p.Gly540=)
|
rs140216790
|
0.00098
|
NM_021939.4(FKBP10):c.1363A>G (p.Ile455Val)
|
rs146701946
|
0.00098
|
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)
|
rs137854523
|
0.00098
|
NM_003036.4(SKI):c.798C>T (p.Ala266=)
|
rs149642284
|
0.00097
|
NM_006258.4(PRKG1):c.1071A>G (p.Lys357=)
|
rs75650199
|
0.00097
|
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)
|
rs34231402
|
0.00096
|
NM_001457.4(FLNB):c.808A>G (p.Met270Val)
|
rs145036794
|
0.00096
|
NM_031448.6(C19orf12):c.313G>A (p.Val105Met)
|
rs146492790
|
0.00096
|
NM_004960.4(FUS):c.1566G>A (p.Arg522=)
|
rs138901914
|
0.00095
|
NM_005188.4(CBL):c.1227+20dup
|
rs530081144
|
0.00095
|
NM_000123.4(ERCC5):c.1110T>A (p.Arg370=)
|
rs150791877
|
0.00094
|
NM_000138.5(FBN1):c.6837G>A (p.Gly2279=)
|
rs140584234
|
0.00094
|
NM_004655.4(AXIN2):c.1101C>T (p.Pro367=)
|
rs141697521
|
0.00094
|
NM_024529.5(CDC73):c.33C>T (p.Tyr11=)
|
rs150951102
|
0.00094
|
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln)
|
rs147549623
|
0.00093
|
NM_017617.5(NOTCH1):c.2049G>A (p.Ala683=)
|
rs61751553
|
0.00093
|
NM_000311.5(PRNP):c.655G>A (p.Glu219Lys)
|
rs1800014
|
0.00092
|
NM_000138.5(FBN1):c.783T>C (p.Asn261=)
|
rs113721547
|
0.00091
|
NM_001367624.2(ZNF469):c.1896G>A (p.Ser632=)
|
rs554795578
|
0.00090
|
NM_005559.4(LAMA1):c.2808+5G>A
|
rs201030108
|
0.00089
|
NM_053025.4(MYLK):c.3832-6C>T
|
rs185681684
|
0.00088
|
NM_003238.6(TGFB2):c.114G>A (p.Glu38=)
|
rs149215818
|
0.00087
|
NM_001288705.3(CSF1R):c.764A>T (p.Asn255Ile)
|
rs146406037
|
0.00086
|
NM_005032.7(PLS3):c.582+8T>G
|
rs189475474
|
0.00086
|
NM_000142.5(FGFR3):c.1349C>T (p.Thr450Met)
|
rs56240927
|
0.00083
|
NM_003036.4(SKI):c.216C>T (p.Pro72=)
|
rs756778048
|
0.00083
|
NM_000548.5(TSC2):c.3723C>T (p.Phe1241=)
|
rs45486193
|
0.00082
|
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)
|
rs149711770
|
0.00081
|
NM_000435.3(NOTCH3):c.1607-5C>A
|
rs372869012
|
0.00081
|
NM_000435.3(NOTCH3):c.2835G>A (p.Ser945=)
|
rs141346023
|
0.00081
|
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg)
|
rs200130356
|
0.00081
|
NM_001999.4(FBN2):c.2427T>A (p.Ile809=)
|
rs139686090
|
0.00081
|
NM_002474.3(MYH11):c.3102T>C (p.Ser1034=)
|
rs181744522
|
0.00080
|
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)
|
rs141976414
|
0.00080
|
NM_015046.7(SETX):c.4982C>G (p.Pro1661Arg)
|
rs146873848
|
0.00080
|
NM_002474.3(MYH11):c.2005C>T (p.Arg669Cys)
|
rs111404182
|
0.00079
|
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met)
|
rs112084407
|
0.00078
|
NM_032043.3(BRIP1):c.918+15T>A
|
rs117820198
|
0.00078
|
NM_053025.4(MYLK):c.373+18C>T
|
rs140559450
|
0.00078
|
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp)
|
rs63750447
|
0.00077
|
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)
|
rs111033212
|
0.00077
|
NM_000455.5(STK11):c.*16+10G>A
|
rs587781180
|
0.00077
|
NM_000535.7(PMS2):c.2187C>G (p.Leu729=)
|
rs373630535
|
0.00077
|
NM_000548.5(TSC2):c.4911G>A (p.Lys1637=)
|
rs35282988
|
0.00077
|
NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His)
|
rs34700927
|
0.00077
|
NM_030777.4(SLC2A10):c.816C>G (p.Ala272=)
|
rs148058006
|
0.00077
|
NM_000138.5(FBN1):c.510C>T (p.Tyr170=)
|
rs111671429
|
0.00076
|
NM_000264.5(PTCH1):c.3387C>T (p.Gly1129=)
|
rs28446339
|
0.00076
|
NM_001999.4(FBN2):c.4647C>T (p.Asn1549=)
|
rs146662880
|
0.00076
|
NM_005188.4(CBL):c.2269G>A (p.Ala757Thr)
|
rs146517083
|
0.00076
|
NM_015046.7(SETX):c.717A>G (p.Leu239=)
|
rs147125311
|
0.00076
|
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val)
|
rs148432863
|
0.00075
|
NM_000235.4(LIPA):c.894G>A (p.Gln298=)
|
rs116928232
|
0.00075
|
NM_001018115.3(FANCD2):c.78A>C (p.Gln26His)
|
rs45510294
|
0.00075
|
NM_000136.3(FANCC):c.816C>T (p.Ile272=)
|
rs55719336
|
0.00074
|
NM_017617.5(NOTCH1):c.368C>T (p.Thr123Met)
|
rs187473846
|
0.00074
|
NM_000501.4(ELN):c.1232T>G (p.Val411Gly)
|
rs200180992
|
0.00073
|
NM_000501.4(ELN):c.212C>T (p.Ala71Val)
|
rs41350445
|
0.00073
|
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met)
|
rs45517238
|
0.00073
|
NM_001367624.2(ZNF469):c.1483C>T (p.Pro495Ser)
|
rs202205643
|
0.00073
|
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)
|
rs2235006
|
0.00071
|
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val)
|
rs149755320
|
0.00071
|
NM_006231.4(POLE):c.6004+11A>G
|
rs201591857
|
0.00071
|
NM_144997.7(FLCN):c.959G>A (p.Arg320Gln)
|
rs143483053
|
0.00071
|
NM_000551.4(VHL):c.150C>G (p.Ala50=)
|
rs61751580
|
0.00070
|
NM_001367624.2(ZNF469):c.5006C>T (p.Ala1669Val)
|
rs200070902
|
0.00070
|
NM_017617.5(NOTCH1):c.5500C>T (p.Leu1834=)
|
rs73668312
|
0.00070
|
NM_178138.6(LHX3):c.929G>C (p.Arg310Pro)
|
rs201591640
|
0.00070
|
NM_000079.4(CHRNA1):c.224G>A (p.Arg75His)
|
rs147488907
|
0.00069
|
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr)
|
rs137854154
|
0.00068
|
NM_006231.4(POLE):c.3851G>A (p.Arg1284Gln)
|
rs149462407
|
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_000548.5(TSC2):c.1387A>G (p.Ile463Val)
|
rs45517171
|
0.00067
|
NM_001909.5(CTSD):c.8C>T (p.Pro3Leu)
|
rs757712173
|
0.00067
|
NM_000088.4(COL1A1):c.3099+7T>C
|
rs201682029
|
0.00066
|
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met)
|
rs138911275
|
0.00066
|
NM_005591.4(MRE11):c.120C>T (p.Leu40=)
|
rs1805364
|
0.00066
|
NM_005633.4(SOS1):c.3391+7A>G
|
rs201982464
|
0.00066
|
NM_000393.5(COL5A2):c.3837T>C (p.Ile1279=)
|
rs148795690
|
0.00065
|
NM_003036.4(SKI):c.1593T>C (p.Pro531=)
|
rs144279718
|
0.00065
|
NM_003105.6(SORL1):c.6021A>G (p.Gln2007=)
|
rs141089496
|
0.00065
|
NM_013339.4(ALG6):c.257+5G>A
|
rs199682486
|
0.00065
|
NM_030777.4(SLC2A10):c.765C>T (p.Ser255=)
|
rs142106322
|
0.00065
|
NM_080605.4(B3GALT6):c.515C>T (p.Ala172Val)
|
rs200646244
|
0.00065
|
NM_000053.4(ATP7B):c.98T>C (p.Met33Thr)
|
rs184868522
|
0.00064
|
NM_000088.4(COL1A1):c.4018G>A (p.Gly1340Ser)
|
rs147936946
|
0.00064
|
NM_002834.5(PTPN11):c.526-8C>A
|
rs184804143
|
0.00064
|
NM_004360.5(CDH1):c.2520C>T (p.Ser840=)
|
rs140328601
|
0.00064
|
NM_007126.5(VCP):c.1584C>T (p.Ala528=)
|
rs147623367
|
0.00064
|
NM_201384.3(PLEC):c.5024G>A (p.Arg1675Gln)
|
rs370569372
|
0.00064
|
NM_000020.3(ACVRL1):c.207C>T (p.Cys69=)
|
rs56080682
|
0.00063
|
NM_000264.5(PTCH1):c.2913T>C (p.Tyr971=)
|
rs2229062
|
0.00063
|
NM_000435.3(NOTCH3):c.1931T>A (p.Val644Asp)
|
rs148046938
|
0.00063
|
NM_001382430.1(AKT1):c.1032C>T (p.Cys344=)
|
rs56289559
|
0.00063
|
NM_006231.4(POLE):c.4057A>G (p.Ser1353Gly)
|
rs141619382
|
0.00063
|
NM_000093.5(COL5A1):c.2031G>A (p.Glu677=)
|
rs61737719
|
0.00062
|
NM_000088.4(COL1A1):c.1461+13G>T
|
rs371161009
|
0.00061
|
NM_001365276.2(TNXB):c.9663G>A (p.Val3221=)
|
rs2242569
|
0.00061
|
NM_001848.3(COL6A1):c.2809A>G (p.Lys937Glu)
|
rs117583120
|
0.00061
|
NM_002474.3(MYH11):c.2049C>T (p.His683=)
|
rs150924100
|
0.00061
|
NM_006371.5(CRTAP):c.641T>C (p.Val214Ala)
|
rs146124454
|
0.00061
|
NM_017617.5(NOTCH1):c.4168C>A (p.Pro1390Thr)
|
rs191645600
|
0.00061
|
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser)
|
rs202219507
|
0.00061
|
NM_030957.4(ADAMTS10):c.483G>A (p.Leu161=)
|
rs150055188
|
0.00061
|
NM_000089.4(COL1A2):c.304C>T (p.Pro102Ser)
|
rs189557655
|
0.00060
|
NM_000455.5(STK11):c.945G>A (p.Pro315=)
|
rs376329042
|
0.00060
|
NM_024675.4(PALB2):c.2996+17T>C
|
rs180177128
|
0.00060
|
NM_000222.3(KIT):c.1195G>A (p.Val399Ile)
|
rs143707288
|
0.00059
|
NM_000093.5(COL5A1):c.341C>A (p.Ala114Asp)
|
rs147589613
|
0.00058
|
NM_006493.4(CLN5):c.459G>A (p.Met153Ile)
|
rs144656959
|
0.00058
|
NM_015046.7(SETX):c.2479A>G (p.Lys827Glu)
|
rs150532677
|
0.00058
|
NM_017617.5(NOTCH1):c.4917C>T (p.Ala1639=)
|
rs371365065
|
0.00058
|
NM_017617.5(NOTCH1):c.7606G>A (p.Val2536Ile)
|
rs111627256
|
0.00058
|
NM_001110556.2(FLNA):c.7756+8A>G
|
rs201663443
|
0.00057
|
NM_002474.3(MYH11):c.12G>A (p.Lys4=)
|
rs112650390
|
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_000038.6(APC):c.3173A>G (p.Asp1058Gly)
|
rs148725540
|
0.00056
|
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr)
|
rs17227396
|
0.00056
|
NM_001110556.2(FLNA):c.3915G>A (p.Thr1305=)
|
rs201488545
|
0.00056
|
NM_002691.4(POLD1):c.1138-8A>G
|
rs41544624
|
0.00056
|
NM_000094.4(COL7A1):c.1098G>A (p.Gly366=)
|
rs150776274
|
0.00055
|
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala)
|
rs143389605
|
0.00055
|
NM_000090.4(COL3A1):c.114C>G (p.Ser38=)
|
rs141241764
|
0.00054
|
NM_000553.6(WRN):c.3453G>A (p.Glu1151=)
|
rs144116311
|
0.00054
|
NM_001110556.2(FLNA):c.3597G>A (p.Ser1199=)
|
rs200258756
|
0.00054
|
NM_003000.3(SDHB):c.21C>T (p.Leu7=)
|
rs147815442
|
0.00054
|
NM_000245.4(MET):c.3523-12C>G
|
rs186524917
|
0.00053
|
NM_002474.3(MYH11):c.3031T>C (p.Leu1011=)
|
rs112861184
|
0.00053
|
NM_015046.7(SETX):c.3336T>C (p.Ala1112=)
|
rs150687078
|
0.00053
|
NM_001367624.2(ZNF469):c.9555C>G (p.Ala3185=)
|
rs273585636
|
0.00052
|
NM_006258.4(PRKG1):c.1963-16T>G
|
rs376174664
|
0.00052
|
NM_080680.3(COL11A2):c.3699C>T (p.Arg1233=)
|
rs151098305
|
0.00052
|
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=)
|
rs56025670
|
0.00051
|
NM_000071.3(CBS):c.954+20C>T
|
rs372327925
|
0.00051
|
NM_000264.5(PTCH1):c.4128C>T (p.Ser1376=)
|
rs142148876
|
0.00051
|
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe)
|
rs200078204
|
0.00051
|
NM_000548.5(TSC2):c.1593C>T (p.Ile531=)
|
rs45517180
|
0.00051
|
NM_000551.4(VHL):c.463+8C>T
|
rs5030834
|
0.00051
|
NM_001367624.2(ZNF469):c.8344C>T (p.His2782Tyr)
|
rs553227769
|
0.00051
|
NM_012210.4(TRIM32):c.276C>T (p.Ser92=)
|
rs140589523
|
0.00051
|
NM_015046.7(SETX):c.7914C>T (p.Phe2638=)
|
rs80296256
|
0.00051
|
NM_000041.4(APOE):c.761T>A (p.Val254Glu)
|
rs199768005
|
0.00050
|
NM_000090.4(COL3A1):c.3777T>C (p.Ala1259=)
|
rs34781844
|
0.00050
|
NM_000447.3(PSEN2):c.336C>T (p.Tyr112=)
|
rs200610057
|
0.00050
|
NM_006258.4(PRKG1):c.675C>T (p.Thr225=)
|
rs142166726
|
0.00050
|
NM_006493.4(CLN5):c.5C>T (p.Ala2Val)
|
rs146993892
|
0.00050
|
NM_025137.4(SPG11):c.7152-14_7152-10dup
|
rs566399432
|
0.00050
|
NM_001999.4(FBN2):c.5674+7A>G
|
rs367877964
|
0.00049
|
NM_004168.4(SDHA):c.723C>T (p.Asp241=)
|
rs146653693
|
0.00049
|
NM_031885.5(BBS2):c.472-10T>C
|
rs138714256
|
0.00049
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
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_002615.7(SERPINF1):c.151G>A (p.Val51Met)
|
rs150899084
|
0.00047
|
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala)
|
rs201740483
|
0.00047
|
NM_000051.4(ATM):c.1986T>C (p.Phe662=)
|
rs1800055
|
0.00046
|
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)
|
rs140856217
|
0.00046
|
NM_000136.3(FANCC):c.705C>T (p.Pro235=)
|
rs141828876
|
0.00046
|
NM_001999.4(FBN2):c.7380C>T (p.Cys2460=)
|
rs147102633
|
0.00046
|
NM_000138.5(FBN1):c.5296+14G>A
|
rs140650
|
0.00045
|
NM_001042432.2(CLN3):c.831G>A (p.Val277=)
|
rs1142183
|
0.00045
|
NM_002691.4(POLD1):c.2052G>C (p.Gln684His)
|
rs144143245
|
0.00045
|
NM_004360.5(CDH1):c.1744C>T (p.Leu582=)
|
rs1801025
|
0.00045
|
NM_004727.3(SLC24A1):c.2183C>T (p.Ala728Val)
|
rs201943537
|
0.00045
|
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=)
|
rs568700183
|
0.00045
|
NM_053025.4(MYLK):c.999G>A (p.Pro333=)
|
rs13319347
|
0.00045
|
NM_207346.3(TSEN54):c.1114G>A (p.Val372Met)
|
rs200434678
|
0.00045
|
NM_000410.4(HFE):c.50C>T (p.Thr17Ile)
|
rs143662783
|
0.00044
|
NM_002087.4(GRN):c.903G>A (p.Ser301=)
|
rs63750142
|
0.00044
|
NM_004004.6(GJB2):c.-22-6T>C
|
rs141962118
|
0.00044
|
NM_033305.3(VPS13A):c.2667+11C>T
|
rs375898960
|
0.00044
|
NM_000251.3(MSH2):c.1680T>C (p.Asn560=)
|
rs200056411
|
0.00043
|
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp)
|
rs143464326
|
0.00043
|
NM_004655.4(AXIN2):c.733C>T (p.Pro245Ser)
|
rs62640028
|
0.00043
|
NM_000096.4(CP):c.2446G>A (p.Val816Ile)
|
rs139058165
|
0.00042
|
NM_000251.3(MSH2):c.1886A>G (p.Gln629Arg)
|
rs61756468
|
0.00042
|
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)
|
rs190521996
|
0.00042
|
NM_000548.5(TSC2):c.3610+9C>T
|
rs45467194
|
0.00042
|
NM_001999.4(FBN2):c.7012+7G>A
|
rs199735209
|
0.00042
|
NM_002335.4(LRP5):c.1585-9G>A
|
rs202067798
|
0.00042
|
NM_000038.6(APC):c.2322C>T (p.Asp774=)
|
rs145792879
|
0.00041
|
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser)
|
rs118203670
|
0.00041
|
NM_000393.5(COL5A2):c.4450G>A (p.Gly1484Ser)
|
rs147420365
|
0.00041
|
NM_000400.4(ERCC2):c.2127C>T (p.Thr709=)
|
rs147128863
|
0.00041
|
NM_001177693.2(ARHGEF28):c.4114-15A>G
|
rs372759519
|
0.00041
|
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)
|
rs77563738
|
0.00041
|
NM_000110.4(DPYD):c.1679T>G (p.Ile560Ser)
|
rs55886062
|
0.00040
|
NM_001042432.2(CLN3):c.1230G>A (p.Ala410=)
|
rs201206239
|
0.00040
|
NM_017617.5(NOTCH1):c.3644-4G>A
|
rs376161552
|
0.00040
|
NM_001854.4(COL11A1):c.2901A>C (p.Gly967=)
|
rs149526015
|
0.00039
|
NM_002474.3(MYH11):c.5529G>A (p.Ser1843=)
|
rs146024732
|
0.00039
|
NM_003242.6(TGFBR2):c.571G>A (p.Val191Ile)
|
rs56105708
|
0.00039
|
NM_015046.7(SETX):c.3345C>G (p.Ala1115=)
|
rs142020270
|
0.00039
|
NM_000138.5(FBN1):c.2895G>A (p.Glu965=)
|
rs140591
|
0.00038
|
NM_003977.4(AIP):c.36G>A (p.Gly12=)
|
rs79662690
|
0.00038
|
NM_006231.4(POLE):c.2026+9C>T
|
rs373790607
|
0.00038
|
NM_000179.3(MSH6):c.1449G>T (p.Val483=)
|
rs35590297
|
0.00037
|
NM_000249.4(MLH1):c.977T>C (p.Val326Ala)
|
rs63751049
|
0.00037
|
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln)
|
rs56023271
|
0.00036
|
NM_000368.5(TSC1):c.1208C>T (p.Ser403Leu)
|
rs118203504
|
0.00036
|
NM_000548.5(TSC2):c.1143G>A (p.Arg381=)
|
rs45517155
|
0.00036
|
NM_001909.5(CTSD):c.827+13T>C
|
rs369602025
|
0.00036
|
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp)
|
rs145252402
|
0.00036
|
NM_017807.4(OSGEP):c.328T>C (p.Cys110Arg)
|
rs140076803
|
0.00036
|
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)
|
rs56009889
|
0.00035
|
NM_017617.5(NOTCH1):c.432C>T (p.Cys144=)
|
rs373713957
|
0.00035
|
NM_024675.4(PALB2):c.1470C>T (p.Pro490=)
|
rs45612837
|
0.00035
|
NM_000038.6(APC):c.607C>G (p.Gln203Glu)
|
rs141576417
|
0.00034
|
NM_000271.5(NPC1):c.180G>T (p.Gln60His)
|
rs145666943
|
0.00034
|
NM_000454.5(SOD1):c.423T>A (p.Ala141=)
|
rs143100660
|
0.00034
|
NM_001288705.3(CSF1R):c.2222-18C>T
|
rs374818714
|
0.00034
|
NM_001909.5(CTSD):c.1071+12A>G
|
rs113936232
|
0.00034
|
NM_002474.3(MYH11):c.4578+19T>C
|
rs118072250
|
0.00034
|
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr)
|
rs200050883
|
0.00034
|
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)
|
rs140522266
|
0.00034
|
NM_017739.4(POMGNT1):c.1539+1G>A
|
rs138642840
|
0.00034
|
NM_024426.6(WT1):c.662-6C>A
|
rs372418954
|
0.00034
|
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_001110556.2(FLNA):c.1044C>T (p.Pro348=)
|
rs375821223
|
0.00033
|
NM_001288705.3(CSF1R):c.2746G>A (p.Glu916Lys)
|
rs142435467
|
0.00033
|
NM_006231.4(POLE):c.6714C>T (p.Cys2238=)
|
rs200082120
|
0.00033
|
NM_003242.6(TGFBR2):c.1525-7G>A
|
rs377499122
|
0.00032
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=)
|
rs587780890
|
0.00032
|
NM_025137.4(SPG11):c.257+13G>A
|
rs201936649
|
0.00032
|
NM_000350.3(ABCA4):c.5461-10T>C
|
rs1800728
|
0.00031
|
NM_000501.4(ELN):c.1999C>T (p.Pro667Ser)
|
rs142316834
|
0.00031
|
NM_001136472.2(LITAF):c.44C>T (p.Ser15Leu)
|
rs138041990
|
0.00031
|
NM_001288705.3(CSF1R):c.1510+16C>T
|
rs200626267
|
0.00031
|
NM_002474.3(MYH11):c.2893G>T (p.Ala965Ser)
|
rs113696032
|
0.00031
|
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile)
|
rs200018416
|
0.00031
|
NM_006059.4(LAMC3):c.290A>G (p.Gln97Arg)
|
rs141758463
|
0.00031
|
NM_053025.4(MYLK):c.711C>T (p.Asn237=)
|
rs149407805
|
0.00031
|
NM_183357.3(ADCY5):c.3253G>A (p.Val1085Ile)
|
rs149775261
|
0.00031
|
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn)
|
rs151001016
|
0.00030
|
NM_015046.7(SETX):c.4096T>C (p.Ser1366Pro)
|
rs140147684
|
0.00030
|
NM_015294.6(TRIM37):c.1357T>A (p.Leu453Met)
|
rs200578021
|
0.00030
|
NM_033629.6(TREX1):c.341G>A (p.Arg114His)
|
rs72556554
|
0.00030
|
NM_000090.4(COL3A1):c.3642C>A (p.Gly1214=)
|
rs184402915
|
0.00029
|
NM_000251.3(MSH2):c.471C>A (p.Gly157=)
|
rs61756463
|
0.00029
|
NM_006059.4(LAMC3):c.4415G>A (p.Arg1472Gln)
|
rs137894550
|
0.00029
|
NM_144997.7(FLCN):c.268G>T (p.Ala90Ser)
|
rs141140415
|
0.00029
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_000548.5(TSC2):c.291C>G (p.Ala97=)
|
rs137933794
|
0.00028
|
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr)
|
rs142822590
|
0.00028
|
NM_053025.4(MYLK):c.5114+8G>A
|
rs202229368
|
0.00028
|
NM_000090.4(COL3A1):c.3133G>A (p.Ala1045Thr)
|
rs149722210
|
0.00027
|
NM_000271.5(NPC1):c.1011G>T (p.Arg337=)
|
rs147795644
|
0.00027
|
NM_015450.3(POT1):c.340A>G (p.Ile114Val)
|
rs146552802
|
0.00027
|
NM_000043.6(FAS):c.578A>G (p.Lys193Arg)
|
rs150489856
|
0.00026
|
NM_000053.4(ATP7B):c.3368C>T (p.Pro1123Leu)
|
rs146623472
|
0.00026
|
NM_000059.4(BRCA2):c.4584C>T (p.Ser1528=)
|
rs80359788
|
0.00026
|
NM_000077.5(CDKN2A):c.318G>A (p.Val106=)
|
rs199888003
|
0.00026
|
NM_000094.4(COL7A1):c.1348C>T (p.Arg450Cys)
|
rs139434755
|
0.00026
|
NM_000548.5(TSC2):c.4105C>T (p.Arg1369Trp)
|
rs45517328
|
0.00026
|
NM_001267550.2(TTN):c.16477G>A (p.Gly5493Ser)
|
rs377042940
|
0.00026
|
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)
|
rs137853027
|
0.00026
|
NM_002474.3(MYH11):c.4197G>A (p.Lys1399=)
|
rs113302393
|
0.00026
|
NM_002474.3(MYH11):c.914A>G (p.Asn305Ser)
|
rs185661462
|
0.00026
|
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn)
|
rs200894246
|
0.00026
|
NM_004612.4(TGFBR1):c.528G>A (p.Thr176=)
|
rs190878719
|
0.00026
|
NM_007194.4(CHEK2):c.444+19T>C
|
rs200501745
|
0.00026
|
NM_017617.5(NOTCH1):c.5638+19A>G
|
rs368675083
|
0.00026
|
NM_020919.4(ALS2):c.1677A>G (p.Lys559=)
|
rs367640165
|
0.00026
|
NM_025137.4(SPG11):c.395G>A (p.Ser132Asn)
|
rs145132275
|
0.00026
|
NM_153240.5(NPHP3):c.2694-2_2694-1del
|
rs751527253
|
0.00026
|
NM_000546.6(TP53):c.704A>G (p.Asn235Ser)
|
rs144340710
|
0.00025
|
NM_001711.6(BGN):c.351+6G>A
|
rs370838225
|
0.00025
|
NM_001009994.3(RIPPLY2):c.238A>T (p.Arg80Ter)
|
rs201419367
|
0.00024
|
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)
|
rs121912707
|
0.00024
|
NM_002474.3(MYH11):c.2802G>A (p.Glu934=)
|
rs138977949
|
0.00024
|
NM_058216.3(RAD51C):c.145+12T>G
|
rs377297129
|
0.00024
|
NM_000038.6(APC):c.6526T>C (p.Leu2176=)
|
rs183468041
|
0.00023
|
NM_000179.3(MSH6):c.3438+11_3438+14del
|
rs377746844
|
0.00023
|
NM_001110556.2(FLNA):c.6412G>T (p.Gly2138Cys)
|
rs200524526
|
0.00023
|
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser)
|
rs41295288
|
0.00022
|
NM_001042432.2(CLN3):c.45G>A (p.Glu15=)
|
rs201824641
|
0.00022
|
NM_006258.4(PRKG1):c.1002-9G>A
|
rs200218082
|
0.00022
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
NM_000345.4(SNCA):c.216G>A (p.Thr72=)
|
rs144758871
|
0.00021
|
NM_004360.5(CDH1):c.670C>T (p.Arg224Cys)
|
rs200310662
|
0.00021
|
NM_006432.5(NPC2):c.292A>C (p.Asn98His)
|
rs142858704
|
0.00021
|
NM_017617.5(NOTCH1):c.2970-9C>T
|
rs568052902
|
0.00021
|
NM_017617.5(NOTCH1):c.6685G>A (p.Val2229Met)
|
rs202096917
|
0.00021
|
NM_000051.4(ATM):c.3402+17T>C
|
rs3092825
|
0.00020
|
NM_000264.5(PTCH1):c.2222C>T (p.Ala741Val)
|
rs2227971
|
0.00020
|
NM_000455.5(STK11):c.1296G>A (p.Gln432=)
|
rs587781179
|
0.00020
|
NM_001267550.2(TTN):c.31114G>C (p.Glu10372Gln)
|
rs200831060
|
0.00020
|
NM_001999.4(FBN2):c.8049G>A (p.Gly2683=)
|
rs138044126
|
0.00020
|
NM_015046.7(SETX):c.4273A>G (p.Lys1425Glu)
|
rs534886444
|
0.00020
|
NM_053025.4(MYLK):c.1310-20T>C
|
rs375101899
|
0.00020
|
NM_000051.4(ATM):c.1272T>C (p.Pro424=)
|
rs35578748
|
0.00019
|
NM_000051.4(ATM):c.4980C>T (p.Asn1660=)
|
rs144338238
|
0.00019
|
NM_000138.5(FBN1):c.6705A>C (p.Gly2235=)
|
rs2229326
|
0.00019
|
NM_000138.5(FBN1):c.79G>A (p.Ala27Thr)
|
rs25397
|
0.00019
|
NM_000271.5(NPC1):c.3477+19T>C
|
rs375942184
|
0.00019
|
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)
|
rs137853096
|
0.00019
|
NM_001114753.3(ENG):c.1686+6T>G
|
rs369766351
|
0.00019
|
NM_001458.5(FLNC):c.1924G>A (p.Val642Ile)
|
rs369387744
|
0.00019
|
NM_001851.6(COL9A1):c.795C>G (p.Thr265=)
|
rs149067801
|
0.00019
|
NM_002609.4(PDGFRB):c.2466C>T (p.Cys822=)
|
rs55830572
|
0.00019
|
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His)
|
rs139366548
|
0.00019
|
NM_133459.4(CCBE1):c.472C>T (p.Arg158Cys)
|
rs121908253
|
0.00019
|
NM_144997.7(FLCN):c.592G>A (p.Asp198Asn)
|
rs200168437
|
0.00019
|
NM_000535.7(PMS2):c.2253T>C (p.Phe751=)
|
rs1805325
|
0.00018
|
NM_001267550.2(TTN):c.26935A>C (p.Asn8979His)
|
rs376982715
|
0.00018
|
NM_001282225.2(ADA2):c.973-2A>G
|
rs139750129
|
0.00018
|
NM_003239.5(TGFB3):c.412T>G (p.Ser138Ala)
|
rs201453600
|
0.00018
|
NM_014639.4(SKIC3):c.3808C>G (p.Pro1270Ala)
|
rs146627706
|
0.00018
|
NM_198253.3(TERT):c.604G>A (p.Ala202Thr)
|
rs121918661
|
0.00018
|
NM_198253.3(TERT):c.838G>A (p.Glu280Lys)
|
rs199701877
|
0.00018
|
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)
|
rs200389141
|
0.00017
|
NM_001367624.2(ZNF469):c.7850G>A (p.Arg2617Gln)
|
rs200019229
|
0.00017
|
NM_000094.4(COL7A1):c.4684G>A (p.Ala1562Thr)
|
rs143352280
|
0.00016
|
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala)
|
rs41295280
|
0.00016
|
NM_000368.5(TSC1):c.1936A>G (p.Met646Val)
|
rs145741748
|
0.00016
|
NM_000400.4(ERCC2):c.601C>T (p.His201Tyr)
|
rs1799792
|
0.00016
|
NM_003482.4(KMT2D):c.6264C>T (p.Thr2088=)
|
rs370414767
|
0.00016
|
NM_006218.4(PIK3CA):c.318C>A (p.Gly106=)
|
rs201193059
|
0.00016
|
NM_006231.4(POLE):c.3245G>A (p.Arg1082His)
|
rs201744227
|
0.00016
|
NM_016938.5(EFEMP2):c.885C>T (p.Ser295=)
|
rs142509316
|
0.00016
|
NM_053025.4(MYLK):c.4293G>A (p.Pro1431=)
|
rs370153686
|
0.00016
|
NM_000138.5(FBN1):c.7056C>T (p.Ser2352=)
|
rs149697299
|
0.00015
|
NM_000218.3(KCNQ1):c.217C>A (p.Pro73Thr)
|
rs199472676
|
0.00015
|
NM_000501.4(ELN):c.232+3G>A
|
rs377172364
|
0.00015
|
NM_001042432.2(CLN3):c.677+8G>A
|
rs368568189
|
0.00015
|
NM_001042492.3(NF1):c.107C>G (p.Thr36Ser)
|
rs199966218
|
0.00015
|
NM_004380.3(CREBBP):c.2846C>T (p.Pro949Leu)
|
rs147083140
|
0.00015
|
NM_005591.4(MRE11):c.1504C>T (p.Arg502Cys)
|
rs186333183
|
0.00015
|
NM_053025.4(MYLK):c.2023G>A (p.Gly675Arg)
|
rs147008323
|
0.00015
|
NM_000264.5(PTCH1):c.3839C>T (p.Ser1280Leu)
|
rs201595274
|
0.00014
|
NM_000368.5(TSC1):c.532G>A (p.Val178Ile)
|
rs118203395
|
0.00014
|
NM_004655.4(AXIN2):c.1305G>A (p.Pro435=)
|
rs369221405
|
0.00014
|
NM_006059.4(LAMC3):c.1688G>A (p.Arg563Gln)
|
rs150171154
|
0.00014
|
NM_006907.4(PYCR1):c.355C>T (p.Arg119Cys)
|
rs121918376
|
0.00014
|
NM_017777.4(MKS1):c.417G>A (p.Glu139=)
|
rs386834048
|
0.00014
|
NM_053025.4(MYLK):c.3639G>A (p.Val1213=)
|
rs148419939
|
0.00014
|
NM_000051.4(ATM):c.1773T>C (p.Asn591=)
|
rs61734356
|
0.00013
|
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)
|
rs755922289
|
0.00013
|
NM_000138.5(FBN1):c.8232G>A (p.Gln2744=)
|
rs376119827
|
0.00013
|
NM_000179.3(MSH6):c.59C>T (p.Ala20Val)
|
rs63750664
|
0.00013
|
NM_000302.4(PLOD1):c.303C>T (p.Ser101=)
|
rs147980436
|
0.00013
|
NM_000540.3(RYR1):c.14270G>A (p.Arg4757His)
|
rs768360593
|
0.00013
|
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)
|
rs200563280
|
0.00013
|
NM_001267550.2(TTN):c.36803C>G (p.Pro12268Arg)
|
rs997014833
|
0.00013
|
NM_001365276.2(TNXB):c.2981G>A (p.Arg994His)
|
rs372167278
|
0.00013
|
NM_002474.3(MYH11):c.3858+16G>C
|
rs370164910
|
0.00013
|
NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser)
|
rs200911775
|
0.00013
|
NM_213599.3(ANO5):c.2256G>A (p.Thr752=)
|
rs144048656
|
0.00013
|
NM_000038.6(APC):c.450A>G (p.Lys150=)
|
rs116020626
|
0.00012
|
NM_000038.6(APC):c.6873A>T (p.Gln2291His)
|
rs148878262
|
0.00012
|
NM_006767.4(LZTR1):c.1563C>T (p.Phe521=)
|
rs145974096
|
0.00012
|
NM_007194.4(CHEK2):c.410G>A (p.Arg137Gln)
|
rs368570187
|
0.00012
|
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile)
|
rs4988125
|
0.00011
|
NM_000249.4(MLH1):c.884+16A>G
|
rs377598055
|
0.00011
|
NM_000368.5(TSC1):c.210+18A>G
|
rs118203349
|
0.00011
|
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)
|
rs116788608
|
0.00011
|
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)
|
rs118192172
|
0.00011
|
NM_000548.5(TSC2):c.3557A>G (p.Tyr1186Cys)
|
rs137854421
|
0.00011
|
NM_001110556.2(FLNA):c.7410C>A (p.Ser2470=)
|
rs368746337
|
0.00011
|
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)
|
rs199422209
|
0.00011
|
NM_001365276.2(TNXB):c.12210+5G>A
|
rs4959085
|
0.00011
|
NM_003002.4(SDHD):c.53C>T (p.Ala18Val)
|
rs192332761
|
0.00011
|
NM_004612.4(TGFBR1):c.120C>T (p.Leu40=)
|
rs201267786
|
0.00011
|
NM_014625.4(NPHS2):c.868G>A (p.Val290Met)
|
rs200482683
|
0.00011
|
NM_014780.5(CUL7):c.3041T>G (p.Leu1014Arg)
|
rs61752334
|
0.00011
|
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)
|
rs140511594
|
0.00011
|
NM_000455.5(STK11):c.787T>C (p.Leu263=)
|
rs372378119
|
0.00010
|
NM_000548.5(TSC2):c.4215C>T (p.Ala1405=)
|
rs45517331
|
0.00010
|
NM_001110556.2(FLNA):c.7903G>A (p.Glu2635Lys)
|
rs369717556
|
0.00010
|
NM_003036.4(SKI):c.2141G>A (p.Arg714His)
|
rs754486257
|
0.00010
|
NM_003105.6(SORL1):c.5023C>T (p.Pro1675Ser)
|
rs200758028
|
0.00010
|
NM_003239.5(TGFB3):c.873G>A (p.Pro291=)
|
rs370006165
|
0.00010
|
NM_030777.4(SLC2A10):c.330C>T (p.Phe110=)
|
rs199848479
|
0.00010
|
NM_000053.4(ATP7B):c.3416C>G (p.Ala1139Gly)
|
rs199924281
|
0.00009
|
NM_000245.4(MET):c.2318C>T (p.Pro773Leu)
|
rs771333219
|
0.00009
|
NM_000368.5(TSC1):c.1438+6G>A
|
rs118203530
|
0.00009
|
NM_001048174.2(MUTYH):c.606+14C>G
|
rs752537118
|
0.00009
|
NM_001267550.2(TTN):c.51668G>A (p.Arg17223Gln)
|
rs142395261
|
0.00009
|
NM_001267550.2(TTN):c.63907G>A (p.Val21303Met)
|
rs372812312
|
0.00009
|
NM_001267550.2(TTN):c.72674C>T (p.Pro24225Leu)
|
rs55992239
|
0.00009
|
NM_001288705.3(CSF1R):c.2554+3G>A
|
rs377388187
|
0.00009
|
NM_007126.5(VCP):c.1202A>G (p.Asn401Ser)
|
rs148329626
|
0.00009
|
NM_007194.4(CHEK2):c.1095+19G>A
|
rs200020484
|
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.556A>C (p.Asn186His)
|
rs146198085
|
0.00009
|
NM_014140.4(SMARCAL1):c.2070+2dup
|
rs762716070
|
0.00009
|
NM_015884.4(MBTPS2):c.459C>T (p.Pro153=)
|
rs371946947
|
0.00009
|
NM_017617.5(NOTCH1):c.4586+10C>T
|
rs760225110
|
0.00009
|
NM_018965.4(TREM2):c.*30G>A
|
rs75272959
|
0.00009
|
NM_024407.5(NDUFS7):c.364G>A (p.Val122Met)
|
rs104894705
|
0.00009
|
NM_000251.3(MSH2):c.913G>A (p.Ala305Thr)
|
rs63751454
|
0.00008
|
NM_000455.5(STK11):c.598-7G>A
|
rs377502057
|
0.00008
|
NM_001267550.2(TTN):c.98431C>T (p.Arg32811Cys)
|
rs371807358
|
0.00008
|
NM_001370259.2(MEN1):c.1185+12G>A
|
rs373609932
|
0.00008
|
NM_001849.4(COL6A2):c.1970-9G>A
|
rs747900252
|
0.00008
|
NM_002474.3(MYH11):c.300C>T (p.Ser100=)
|
rs111662326
|
0.00008
|
NM_004614.5(TK2):c.416C>T (p.Ala139Val)
|
rs281865494
|
0.00008
|
NM_017617.5(NOTCH1):c.6083-4G>A
|
rs570242146
|
0.00008
|
NM_000249.4(MLH1):c.649C>T (p.Arg217Cys)
|
rs4986984
|
0.00007
|
NM_002691.4(POLD1):c.2178G>C (p.Gln726His)
|
rs747483140
|
0.00007
|
NM_004360.5(CDH1):c.1298A>G (p.Asp433Gly)
|
rs376097289
|
0.00007
|
NM_053025.4(MYLK):c.2070G>A (p.Thr690=)
|
rs141049942
|
0.00007
|
NM_053025.4(MYLK):c.382G>A (p.Ala128Thr)
|
rs147840022
|
0.00007
|
NM_000051.4(ATM):c.7521C>T (p.Asp2507=)
|
rs751234924
|
0.00006
|
NM_000249.4(MLH1):c.955G>A (p.Glu319Lys)
|
rs63750796
|
0.00006
|
NM_000360.4(TH):c.104T>C (p.Ile35Thr)
|
rs747420332
|
0.00006
|
NM_000368.5(TSC1):c.1648C>G (p.Gln550Glu)
|
rs118203553
|
0.00006
|
NM_000435.3(NOTCH3):c.432C>T (p.Cys144=)
|
rs748339634
|
0.00006
|
NM_000548.5(TSC2):c.2978C>T (p.Thr993Met)
|
rs137854410
|
0.00006
|
NM_001042432.2(CLN3):c.222T>C (p.His74=)
|
rs201225986
|
0.00006
|
NM_001267550.2(TTN):c.3295G>A (p.Val1099Met)
|
rs368282893
|
0.00006
|
NM_001358530.2(MOCS1):c.418+1G>A
|
rs141982812
|
0.00006
|
NM_001365536.1(SCN9A):c.5945A>T (p.Asp1982Val)
|
rs199822303
|
0.00006
|
NM_002055.5(GFAP):c.1171+474G>A
|
rs370385098
|
0.00006
|
NM_002474.3(MYH11):c.5614-7G>A
|
rs202120792
|
0.00006
|
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)
|
rs144500145
|
0.00006
|
NM_003036.4(SKI):c.1211+10C>T
|
rs200242660
|
0.00006
|
NM_004736.4(XPR1):c.2009G>A (p.Arg670His)
|
rs142675657
|
0.00006
|
NM_005188.4(CBL):c.2262T>G (p.Asn754Lys)
|
rs148139669
|
0.00006
|
NM_017617.5(NOTCH1):c.7251G>A (p.Pro2417=)
|
rs368498380
|
0.00006
|
NM_020919.4(ALS2):c.-60-2A>G
|
rs532217889
|
0.00006
|
NM_021625.5(TRPV4):c.1139C>T (p.Thr380Met)
|
rs764949536
|
0.00006
|
NM_024675.4(PALB2):c.2748+16G>A
|
rs730881873
|
0.00006
|
NM_175914.5(HNF4A):c.340C>T (p.Arg114Trp)
|
rs137853336
|
0.00006
|
NM_000179.3(MSH6):c.147C>T (p.Ala49=)
|
rs768803986
|
0.00005
|
NM_001134831.2(AHI1):c.3032C>G (p.Ser1011Ter)
|
rs777215595
|
0.00005
|
NM_001291415.2(KDM6A):c.2018G>A (p.Arg673His)
|
rs369284316
|
0.00005
|
NM_002335.4(LRP5):c.2467C>T (p.Leu823=)
|
rs768741253
|
0.00005
|
NM_015046.7(SETX):c.4865C>T (p.Pro1622Leu)
|
rs140781535
|
0.00005
|
NM_000038.6(APC):c.6682A>G (p.Arg2228Gly)
|
rs199648202
|
0.00004
|
NM_000138.5(FBN1):c.538+4A>G
|
rs375721252
|
0.00004
|
NM_000138.5(FBN1):c.6055G>A (p.Glu2019Lys)
|
rs377149130
|
0.00004
|
NM_000302.4(PLOD1):c.1651-2A>G
|
rs565513365
|
0.00004
|
NM_000455.5(STK11):c.1200G>A (p.Leu400=)
|
rs368661707
|
0.00004
|
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe)
|
rs74315456
|
0.00004
|
NM_000548.5(TSC2):c.2963G>C (p.Arg988Pro)
|
rs397515306
|
0.00004
|
NM_001267550.2(TTN):c.22386T>A (p.Asp7462Glu)
|
rs183482849
|
0.00004
|
NM_001267550.2(TTN):c.80905G>A (p.Val26969Ile)
|
rs377667066
|
0.00004
|
NM_001854.4(COL11A1):c.4627A>C (p.Ile1543Leu)
|
rs558548172
|
0.00004
|
NM_002474.3(MYH11):c.1575+7G>A
|
rs754750176
|
0.00004
|
NM_004360.5(CDH1):c.1224G>A (p.Ala408=)
|
rs200161607
|
0.00004
|
NM_004655.4(AXIN2):c.1092C>T (p.Pro364=)
|
rs765518896
|
0.00004
|
NM_005359.6(SMAD4):c.228A>G (p.Arg76=)
|
rs587780556
|
0.00004
|
NM_017617.5(NOTCH1):c.4635C>T (p.Cys1545=)
|
rs775752102
|
0.00004
|
NM_017617.5(NOTCH1):c.5168-4G>A
|
rs751709616
|
0.00004
|
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr)
|
rs121908372
|
0.00004
|
NM_020919.4(ALS2):c.886G>A (p.Ala296Thr)
|
rs765049503
|
0.00004
|
NM_021942.6(TRAPPC11):c.1287+5G>A
|
rs397509418
|
0.00004
|
NM_024426.6(WT1):c.513C>A (p.Gly171=)
|
rs536728682
|
0.00004
|
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu)
|
rs62625272
|
0.00004
|
NM_176787.5(PIGN):c.2354G>A (p.Arg785His)
|
rs535563062
|
0.00004
|
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr)
|
rs369264968
|
0.00003
|
NM_000079.4(CHRNA1):c.317G>A (p.Trp106Ter)
|
rs1476453955
|
0.00003
|
NM_000179.3(MSH6):c.1053C>T (p.His351=)
|
rs28903083
|
0.00003
|
NM_000302.4(PLOD1):c.509A>T (p.Glu170Val)
|
rs554232128
|
0.00003
|
NM_000492.4(CFTR):c.1040G>A (p.Arg347His)
|
rs77932196
|
0.00003
|
NM_001034842.5(PTCHD3):c.547C>T (p.Arg183Cys)
|
rs753899041
|
0.00003
|
NM_001354604.2(MITF):c.1569G>A (p.Glu523=)
|
rs200830148
|
0.00003
|
NM_001360.3(DHCR7):c.3G>A (p.Met1Ile)
|
rs121909767
|
0.00003
|
NM_004369.4(COL6A3):c.175C>T (p.Arg59Ter)
|
rs398124119
|
0.00003
|
NM_006231.4(POLE):c.1588G>A (p.Asp530Asn)
|
rs753660907
|
0.00003
|
NM_007375.4(TARDBP):c.1147A>G (p.Ile383Val)
|
rs80356740
|
0.00003
|
NM_013339.4(ALG6):c.998C>T (p.Ala333Val)
|
rs121908443
|
0.00003
|
NM_018941.4(CLN8):c.470A>G (p.His157Arg)
|
rs149308952
|
0.00003
|
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln)
|
rs376048533
|
0.00003
|
NM_033305.3(VPS13A):c.9176A>G (p.Asn3059Ser)
|
rs768641511
|
0.00003
|
NM_000038.6(APC):c.835-3T>C
|
rs372090940
|
0.00002
|
NM_000057.4(BLM):c.395G>A (p.Arg132Gln)
|
rs775197136
|
0.00002
|
NM_000138.5(FBN1):c.7400A>G (p.Gln2467Arg)
|
rs770839761
|
0.00002
|
NM_000257.4(MYH7):c.706G>A (p.Val236Ile)
|
rs397516261
|
0.00002
|
NM_001195518.2(MICU1):c.735+1G>A
|
rs369915689
|
0.00002
|
NM_001365276.2(TNXB):c.2461C>T (p.Arg821Ter)
|
rs749890642
|
0.00002
|
NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr)
|
rs751889864
|
0.00002
|
NM_012200.4(B3GAT3):c.1A>T (p.Met1Leu)
|
rs139759238
|
0.00002
|
NM_017841.4(SDHAF2):c.98G>A (p.Arg33His)
|
rs777442412
|
0.00002
|
NM_020451.3(SELENON):c.1427C>T (p.Ser476Leu)
|
rs368377980
|
0.00002
|
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro)
|
rs1460517643
|
0.00002
|
NM_025137.4(SPG11):c.176C>T (p.Ala59Val)
|
rs552320263
|
0.00002
|
NM_025137.4(SPG11):c.6953G>A (p.Arg2318His)
|
rs768408465
|
0.00002
|
NM_130468.4(CHST14):c.941G>A (p.Arg314Gln)
|
rs556002453
|
0.00002
|
NM_000051.4(ATM):c.2467-7C>T
|
rs768850329
|
0.00001
|
NM_000051.4(ATM):c.2630G>C (p.Ser877Thr)
|
rs370269552
|
0.00001
|
NM_000051.4(ATM):c.8532T>C (p.Ile2844=)
|
rs730881278
|
0.00001
|
NM_000051.4(ATM):c.8730C>G (p.Leu2910=)
|
rs551041839
|
0.00001
|
NM_000082.4(ERCC8):c.797A>G (p.Asp266Gly)
|
rs281875225
|
0.00001
|
NM_000083.3(CLCN1):c.1471+1G>A
|
rs375596425
|
0.00001
|
NM_000089.4(COL1A2):c.838G>A (p.Gly280Ser)
|
rs72656387
|
0.00001
|
NM_000142.5(FGFR3):c.514G>A (p.Val172Ile)
|
rs529408918
|
0.00001
|
NM_000143.4(FH):c.648T>A (p.Asp216Glu)
|
rs199536615
|
0.00001
|
NM_000165.5(GJA1):c.443G>A (p.Arg148Gln)
|
rs962041031
|
0.00001
|
NM_000170.3(GLDC):c.806C>T (p.Thr269Met)
|
rs386833587
|
0.00001
|
NM_000263.4(NAGLU):c.1927C>T (p.Arg643Cys)
|
rs104894594
|
0.00001
|
NM_000368.5(TSC1):c.2392-16A>G
|
rs758374143
|
0.00001
|
NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln)
|
rs765380155
|
0.00001
|
NM_000435.3(NOTCH3):c.2182C>T (p.Arg728Cys)
|
rs1057519101
|
0.00001
|
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys)
|
rs74315479
|
0.00001
|
NM_000535.7(PMS2):c.614A>C (p.Gln205Pro)
|
rs587779342
|
0.00001
|
NM_000548.5(TSC2):c.1366G>A (p.Glu456Lys)
|
rs397515142
|
0.00001
|
NM_000834.5(GRIN2B):c.1555C>T (p.Arg519Ter)
|
rs774592932
|
0.00001
|
NM_001042472.3(ABHD12):c.1075del (p.Val359fs)
|
rs757670984
|
0.00001
|
NM_001042492.3(NF1):c.7623G>A (p.Arg2541=)
|
rs876660737
|
0.00001
|
NM_001048174.2(MUTYH):c.800C>T (p.Pro267Leu)
|
rs374950566
|
0.00001
|
NM_001164508.2(NEB):c.22831C>T (p.Arg7611Ter)
|
rs555582398
|
0.00001
|
NM_001256317.3(TMPRSS3):c.46C>T (p.Arg16Ter)
|
rs976363536
|
0.00001
|
NM_001267550.2(TTN):c.67834G>A (p.Asp22612Asn)
|
rs757888367
|
0.00001
|
NM_001267550.2(TTN):c.74527A>G (p.Asn24843Asp)
|
rs373527654
|
0.00001
|
NM_001374623.1(PNPLA1):c.704C>T (p.Pro235Leu)
|
rs376245108
|
0.00001
|
NM_001377265.1(MAPT):c.220+2432G>A
|
rs992572864
|
0.00001
|
NM_001377265.1(MAPT):c.220+2538C>G
|
rs368845248
|
0.00001
|
NM_001613.4(ACTA2):c.445C>T (p.Arg149Cys)
|
rs121434526
|
0.00001
|
NM_001846.4(COL4A2):c.4147G>A (p.Gly1383Arg)
|
rs797044947
|
0.00001
|
NM_001851.6(COL9A1):c.1926+6T>G
|
rs372289111
|
0.00001
|
NM_001854.4(COL11A1):c.990+8G>A
|
rs756299328
|
0.00001
|
NM_002474.3(MYH11):c.4365+9C>T
|
rs571613839
|
0.00001
|
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)
|
rs730881864
|
0.00001
|
NM_002691.4(POLD1):c.2599G>A (p.Val867Ile)
|
rs367680864
|
0.00001
|
NM_004168.4(SDHA):c.150+1G>A
|
rs1057523165
|
0.00001
|
NM_004168.4(SDHA):c.1753C>T (p.Arg585Trp)
|
rs200397144
|
0.00001
|
NM_004360.5(CDH1):c.27G>A (p.Ser9=)
|
rs786201257
|
0.00001
|
NM_004655.4(AXIN2):c.721T>G (p.Cys241Gly)
|
rs370549410
|
0.00001
|
NM_004722.4(AP4M1):c.1137+1G>T
|
rs770705832
|
0.00001
|
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys)
|
rs397518413
|
0.00001
|
NM_006267.5(RANBP2):c.1754C>T (p.Thr585Met)
|
rs121434502
|
0.00001
|
NM_014363.6(SACS):c.12160C>T (p.Gln4054Ter)
|
rs281865120
|
0.00001
|
NM_015046.7(SETX):c.7814G>A (p.Arg2605Gln)
|
rs543247171
|
0.00001
|
NM_017807.4(OSGEP):c.332T>C (p.Ile111Thr)
|
rs1443735811
|
0.00001
|
NM_020549.5(CHAT):c.1679G>A (p.Arg560His)
|
rs121912819
|
0.00001
|
NM_024301.5(FKRP):c.1384C>T (p.Pro462Ser)
|
rs768606230
|
0.00001
|
NM_024675.4(PALB2):c.2163A>C (p.Thr721=)
|
rs587781105
|
0.00001
|
NM_024675.4(PALB2):c.2505C>T (p.Ser835=)
|
rs756502783
|
0.00001
|
NM_032119.4(ADGRV1):c.7735G>A (p.Val2579Met)
|
rs755818826
|
0.00001
|
NM_138422.4(ADAT3):c.430G>A (p.Val144Met)
|
rs730882213
|
0.00001
|
NM_144997.7(FLCN):c.1022G>A (p.Arg341Gln)
|
rs375352888
|
0.00001
|
NM_178452.6(DNAAF1):c.1528+2T>C
|
rs569633512
|
0.00001
|
NM_000021.4(PSEN1):c.786G>C (p.Leu262Phe)
|
rs63750248
|
|
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del)
|
rs386833391
|
|
NM_000038.6(APC):c.423-4del
|
rs730881230
|
|
NM_000038.6(APC):c.423-4dup
|
rs730881230
|
|
NM_000041.4(APOE):c.237-16_237-13del
|
rs377486301
|
|
NM_000051.4(ATM):c.1236-3del
|
rs34325032
|
|
NM_000051.4(ATM):c.1236-3dup
|
rs34325032
|
|
NM_000051.4(ATM):c.1236-4_1236-3del
|
rs34325032
|
|
NM_000051.4(ATM):c.3285-9del
|
rs1799757
|
|
NM_000051.4(ATM):c.3403-13dup
|
rs3218681
|
|
NM_000051.4(ATM):c.497-4del
|
rs768748099
|
|
NM_000051.4(ATM):c.6347+31del
|
rs58978479
|
|
NM_000051.4(ATM):c.6347+31dup
|
rs58978479
|
|
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter)
|
rs876660382
|
|
NM_000088.4(COL1A1):c.1300-8C>G
|
rs41317361
|
|
NM_000088.4(COL1A1):c.1300-8C>T
|
rs41317361
|
|
NM_000088.4(COL1A1):c.3046-20CT[10]
|
rs138425306
|
|
NM_000090.4(COL3A1):c.2002C>T (p.Pro668Ser)
|
rs1801183
|
|
NM_000090.4(COL3A1):c.2490G>A (p.Pro830=)
|
rs777361888
|
|
NM_000092.5(COL4A4):c.3289+1G>T
|
rs1973128133
|
|
NM_000093.5(COL5A1):c.1224G>C (p.Thr408=)
|
rs139406076
|
|
NM_000093.5(COL5A1):c.1390-18CT[3]
|
rs863223441
|
|
NM_000093.5(COL5A1):c.4482G>A (p.Pro1494=)
|
rs2228560
|
|
NM_000093.5(COL5A1):c.514G>T (p.Val172Phe)
|
rs150147262
|
|
NM_000093.5(COL5A1):c.5350G>A (p.Ala1784Thr)
|
rs143859495
|
|
NM_000093.5(COL5A1):c.67CTG[5] (p.Leu28del)
|
rs773994971
|
|
NM_000096.4(CP):c.2286-14dup
|
rs561633350
|
|
NM_000098.3(CPT2):c.577C>T (p.Arg193Cys)
|
rs375968699
|
|
NM_000102.4(CYP17A1):c.1435_1438dup (p.Pro480fs)
|
rs556794126
|
|
NM_000123.4(ERCC5):c.2353C>T (p.Gln785Ter)
|
rs1244074570
|
|
NM_000127.3(EXT1):c.962+8_962+11del
|
rs138812713
|
|
NM_000138.5(FBN1):c.2645C>T (p.Ala882Val)
|
rs794728195
|
|
NM_000138.5(FBN1):c.6832C>T (p.Pro2278Ser)
|
rs363835
|
|
NM_000143.4(FH):c.1237-50TC[23]
|
rs144131869
|
|
NM_000143.4(FH):c.1237-50TC[26]
|
rs144131869
|
|
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup)
|
rs367543046
|
|
NM_000152.5(GAA):c.1004G>A (p.Gly335Glu)
|
rs730880022
|
|
NM_000168.6(GLI3):c.1497+1G>A
|
rs1399654830
|
|
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer)
|
rs267608077
|
|
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=)
|
rs3136351
|
|
NM_000179.3(MSH6):c.3557-4del
|
rs267608102
|
|
NM_000179.3(MSH6):c.4001+2TAAC[2]
|
rs267608132
|
|
NM_000179.3(MSH6):c.4001+2TAAC[4]
|
rs267608132
|
|
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer)
|
rs55740729
|
|
NM_000190.4(HMBS):c.962G>A (p.Arg321His)
|
rs150428209
|
|
NM_000245.4(MET):c.3936-13_3936-10del
|
rs745366999
|
|
NM_000249.4(MLH1):c.1039-8_1039-7insTTTTTTTA
|
rs535965616
|
|
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala)
|
rs35502531
|
|
NM_000249.4(MLH1):c.1990-3C>G
|
rs267607882
|
|
NM_000251.3(MSH2):c.2576_2584del (p.Glu859_Gln861del)
|
rs587781278
|
|
NM_000256.3(MYBPC3):c.3330+5G>C
|
rs373746463
|
|
NM_000264.5(PTCH1):c.113G>T (p.Gly38Val)
|
rs143494325
|
|
NM_000264.5(PTCH1):c.1602+15_1602+17del
|
rs528001004
|
|
NM_000264.5(PTCH1):c.4080C>T (p.Ser1360=)
|
rs62637631
|
|
NM_000266.4(NDP):c.112C>T (p.Arg38Cys)
|
rs758550101
|
|
NM_000267.3(NF1):c.730+32dup
|
rs71142032
|
|
NM_000271.5(NPC1):c.1947+10G>A
|
rs71534236
|
|
NM_000271.5(NPC1):c.1947+10G>C
|
rs71534236
|
|
NM_000271.5(NPC1):c.1947+16del
|
rs3837910
|
|
NM_000271.5(NPC1):c.1947+7_1947+8insCGGG
|
rs1555634618
|
|
NM_000271.5(NPC1):c.1947+8_1947+10dup
|
rs3837910
|
|
NM_000271.5(NPC1):c.1947+8_1947+11dup
|
rs3837910
|
|
NM_000271.5(NPC1):c.1947+8_1947+9dup
|
rs3837910
|
|
NM_000271.5(NPC1):c.1947+8dup
|
rs3837910
|
|
NM_000271.5(NPC1):c.2131-21dup
|
rs11299077
|
|
NM_000271.5(NPC1):c.3561G>T (p.Ala1187=)
|
rs55724504
|
|
NM_000271.5(NPC1):c.966C>T (p.Ser322=)
|
rs61731965
|
|
NM_000282.4(PCCA):c.1409T>G (p.Leu470Arg)
|
rs2152697481
|
|
NM_000310.4(PPT1):c.537-8del
|
rs760997725
|
|
NM_000314.8(PTEN):c.103A>G (p.Met35Val)
|
rs876659443
|
|
NM_000314.8(PTEN):c.802-3del
|
rs34003473
|
|
NM_000314.8(PTEN):c.802-4_802-3del
|
rs34003473
|
|
NM_000350.3(ABCA4):c.286A>G (p.Asn96Asp)
|
rs61748529
|
|
NM_000377.3(WAS):c.273+10_273+11dup
|
rs58371799
|
|
NM_000377.3(WAS):c.273+11dup
|
rs58371799
|
|
NM_000382.3(ALDH3A2):c.1297_1298del (p.Glu433fs)
|
rs387906256
|
|
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
|
|
|
NM_000448.3(RAG1):c.140del (p.Lys47fs)
|
rs2133292794
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
NM_000478.6(ALPL):c.472+12del
|
rs35423948
|
|
NM_000478.6(ALPL):c.746G>T (p.Gly249Val)
|
rs121918018
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)
|
rs74551128
|
|
NM_000501.4(ELN):c.1264G>A (p.Gly422Ser)
|
rs2071307
|
|
NM_000501.4(ELN):c.1269C>T (p.Val423=)
|
rs61734583
|
|
NM_000501.4(ELN):c.1741G>C (p.Gly581Arg)
|
rs17855988
|
|
NM_000516.7(GNAS):c.1096G>A (p.Ala366Thr)
|
rs137854537
|
|
NM_000535.7(PMS2):c.1437C>G (p.His479Gln)
|
rs63750685
|
|
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)
|
rs63750668
|
|
NM_000535.7(PMS2):c.706-4del
|
rs60794673
|
|
NM_000535.7(PMS2):c.706-4dup
|
rs60794673
|
|
NM_000548.5(TSC2):c.1362-4G>A
|
rs397515145
|
|
NM_000548.5(TSC2):c.3126G>C (p.Pro1042=)
|
rs36078782
|
|
NM_000548.5(TSC2):c.3126G>T (p.Pro1042=)
|
rs36078782
|
|
NM_000548.5(TSC2):c.3884-17C>G
|
rs45517317
|
|
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del)
|
rs137854239
|
|
NM_000553.6(WRN):c.1899-10G>T
|
rs748285435
|
|
NM_000791.4(DHFR):c.-417_-416insGCGCTGCGGCCGCTGCGG
|
rs758718643
|
|
NM_000791.4(DHFR):c.-437GGGGCGCTG[3]
|
rs60484572
|
|
NM_001005271.3(CHD3):c.222GCC[8] (p.Pro82_Leu83insPro)
|
rs759738955
|
|
NM_001018115.3(FANCD2):c.2022-5C>T
|
rs4019784
|
|
NM_001018115.3(FANCD2):c.3466+36dup
|
rs371321981
|
|
NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln)
|
rs796053356
|
|
NM_001040113.2(MYH11):c.5819C>A (p.Pro1940Gln)
|
rs111588143
|
|
NM_001042432.2(CLN3):c.1210C>A (p.His404Asn)
|
rs146610181
|
|
NM_001042492.3(NF1):c.4174-8_4174-6del
|
rs751729752
|
|
NM_001042492.3(NF1):c.61-4del
|
rs551568608
|
|
NM_001042492.3(NF1):c.6147+8C>G
|
rs182709912
|
|
NM_001042492.3(NF1):c.730+32del
|
rs71142032
|
|
NM_001042492.3(NF1):c.7971-8del
|
rs564545012
|
|
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=)
|
rs121908380
|
|
NM_001080421.3(UNC13A):c.2441C>T (p.Pro814Leu)
|
rs2076985517
|
|
NM_001101362.3(KBTBD13):c.742C>T (p.Arg248Cys)
|
rs200549195
|
|
NM_001103146.3(GIGYF2):c.3629_3630insGC (p.Gln1211fs)
|
rs371622656
|
|
NM_001110556.2(FLNA):c.62_64dup (p.Val21dup)
|
rs782721874
|
|
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)
|
rs28934908
|
|
NM_001127178.3(PIGG):c.2624_2625del (p.Gly874_Leu875insTer)
|
rs771819481
|
|
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)
|
rs121908216
|
|
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln)
|
rs587777308
|
|
NM_001127671.2(LIFR):c.143-37GT[15]
|
rs10637374
|
|
NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met)
|
rs140574574
|
|
NM_001129.5(AEBP1):c.1018+4_1018+7del
|
rs376965157
|
|
NM_001130144.3(LTBP3):c.76CTG[13] (p.Leu33_Leu35dup)
|
rs71036212
|
|
NM_001134232.2(TMEM106B):c.754G>A (p.Asp252Asn)
|
rs1554310600
|
|
NM_001172509.2(SATB2):c.1196G>A (p.Arg399His)
|
rs1057518190
|
|
NM_001177693.2(ARHGEF28):c.315G>T (p.Thr105=)
|
rs191563093
|
|
NM_001244710.2(GFPT1):c.*22C>A
|
rs199678034
|
|
NM_001253852.3(AP4B1):c.616C>T (p.Arg206Ter)
|
rs762612591
|
|
NM_001256715.2(DNAAF3):c.1271dup (p.Phe426fs)
|
rs1349668884
|
|
NM_001267550.2(TTN):c.49263C>A (p.Tyr16421Ter)
|
rs376188859
|
|
NM_001288705.3(CSF1R):c.2132+5C>T
|
rs17110908
|
|
NM_001288705.3(CSF1R):c.368C>G (p.Ala123Gly)
|
rs140924076
|
|
NM_001288705.3(CSF1R):c.93C>T (p.Val31=)
|
rs41424646
|
|
NM_001349338.3(FOXP1):c.1540C>T (p.Arg514Cys)
|
rs869025203
|
|
NM_001354604.2(MITF):c.1096C>T (p.Arg366Ter)
|
rs2066482593
|
|
NM_001354604.2(MITF):c.1150G>A (p.Ala384Thr)
|
rs202020443
|
|
NM_001356.5(DDX3X):c.1126C>T (p.Arg376Cys)
|
rs796052231
|
|
NM_001356.5(DDX3X):c.1807C>T (p.Arg603Ter)
|
rs886041705
|
|
NM_001363.5(DKC1):c.1494GAA[6] (p.Lys505del)
|
rs782576893
|
|
NM_001363.5(DKC1):c.1494GAA[8] (p.Lys505dup)
|
rs782576893
|
|
NM_001365276.2(TNXB):c.6973G>A (p.Val2325Ile)
|
rs140304758
|
|
NM_001367624.2(ZNF469):c.10328G>C (p.Gly3443Ala)
|
rs140056980
|
|
NM_001367624.2(ZNF469):c.3341G>T (p.Arg1114Leu)
|
rs568046708
|
|
NM_001367624.2(ZNF469):c.457C>G (p.Pro153Ala)
|
rs532620482
|
|
NM_001367624.2(ZNF469):c.5340C>G (p.Pro1780=)
|
rs184374078
|
|
NM_001370259.2(MEN1):c.784-19TC[2]
|
rs764290037
|
|
NM_001372574.1(ATXN2):c.59AGC[8] (p.Gln28del)
|
rs10560189
|
|
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys)
|
rs879253979
|
|
NM_001379500.1(COL18A1):c.2829CCCAGGCCC[1] (p.938PGP[3])
|
rs78227997
|
|
NM_001458.5(FLNC):c.3055G>A (p.Gly1019Ser)
|
rs200864007
|
|
NM_001458.5(FLNC):c.577G>A (p.Ala193Thr)
|
rs387906587
|
|
NM_001715.3(BLK):c.391C>T (p.Arg131Trp)
|
rs73663163
|
|
NM_001844.5(COL2A1):c.2673C>G (p.Gly891=)
|
rs41272029
|
|
NM_001848.3(COL6A1):c.877G>A (p.Gly293Arg)
|
rs398123643
|
|
NM_001851.6(COL9A1):c.1342-27CTTTT[3]
|
rs543377381
|
|
NM_001852.4(COL9A2):c.1604-26CTCC[7]
|
rs3831927
|
|
NM_001853.4(COL9A3):c.1816G>A (p.Ala606Thr)
|
rs142792529
|
|
NM_001853.4(COL9A3):c.685-4G>T
|
rs57739618
|
|
NM_001854.4(COL11A1):c.1792-39ATG[11]
|
rs71752747
|
|
NM_001854.4(COL11A1):c.3817-14_3817-13dup
|
rs34228277
|
|
NM_001854.4(COL11A1):c.4303-13dup
|
rs35232764
|
|
NM_001854.4(COL11A1):c.652-18_652-16dup
|
rs36076089
|
|
NM_001854.4(COL11A1):c.652-6del
|
rs36076089
|
|
NM_001958.5(EEF1A2):c.271G>A (p.Asp91Asn)
|
rs886041197
|
|
NM_001999.4(FBN2):c.4472-12del
|
rs758812755
|
|
NM_001999.4(FBN2):c.518C>T (p.Thr173Ile)
|
rs147157552
|
|
NM_001999.4(FBN2):c.7650C>G (p.Thr2550=)
|
rs140978642
|
|
NM_002016.2(FLG):c.1501C>T (p.Arg501Ter)
|
rs61816761
|
|
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs)
|
rs558269137
|
|
NM_002070.4(GNAI2):c.535C>T (p.Arg179Cys)
|
rs137853226
|
|
NM_002087.4(GRN):c.1252C>T (p.Arg418Ter)
|
rs63751180
|
|
NM_002087.4(GRN):c.99C>T (p.Asp33=)
|
rs63750742
|
|
NM_002335.4(LRP5):c.1828G>A (p.Gly610Arg)
|
rs80358313
|
|
NM_002335.4(LRP5):c.34CTG[6] (p.Leu18_Leu20del)
|
rs72555376
|
|
NM_002335.4(LRP5):c.34CTG[8] (p.Leu20del)
|
rs72555376
|
|
NM_002335.4(LRP5):c.724G>A (p.Ala242Thr)
|
rs121908670
|
|
NM_002354.3(EPCAM):c.267G>C (p.Gln89His)
|
rs146480420
|
|
NM_002382.5(MAX):c.37-15del
|
rs747340873
|
|
NM_002474.3(MYH11):c.4116+11del
|
rs543763112
|
|
NM_002474.3(MYH11):c.530+20C>T
|
rs780914854
|
|
NM_002693.3(POLG):c.126GCA[12] (p.Gln55dup)
|
rs41550117
|
|
|