NM_005629.4(SLC6A8):c.-5A>G
|
rs384573
|
1.00000
|
NM_005633.4(SOS1):c.2791+53C>T
|
rs7577088
|
0.94549
|
NM_005633.4(SOS1):c.720+25C>G
|
rs997344
|
0.92897
|
NM_001360.3(DHCR7):c.438T>C (p.Asn146=)
|
rs949177
|
0.90629
|
NM_001360.3(DHCR7):c.207T>C (p.Thr69=)
|
rs1790334
|
0.90380
|
NM_001360.3(DHCR7):c.1158T>C (p.Asp386=)
|
rs760241
|
0.85831
|
NM_001360.3(DHCR7):c.189G>A (p.Gln63=)
|
rs1044482
|
0.59041
|
NM_001360.3(DHCR7):c.1272C>T (p.Gly424=)
|
rs909217
|
0.56172
|
NM_003482.4(KMT2D):c.7479G>T (p.Gly2493=)
|
rs10747559
|
0.42978
|
NM_003482.4(KMT2D):c.10836G>A (p.Gln3612=)
|
rs3782357
|
0.42594
|
NM_030662.4(MAP2K2):c.660C>A (p.Ile220=)
|
rs10250
|
0.42547
|
NM_003482.4(KMT2D):c.2826C>T (p.Ile942=)
|
rs2241726
|
0.39054
|
NM_002834.5(PTPN11):c.1600-95C>T
|
rs3741983
|
0.37076
|
NM_001360.3(DHCR7):c.626+15G>A
|
rs736894
|
0.30458
|
NM_003482.4(KMT2D):c.12510A>G (p.Pro4170=)
|
rs3741622
|
0.25778
|
NM_030662.4(MAP2K2):c.453C>T (p.Asp151=)
|
rs17851657
|
0.13902
|
NM_003482.4(KMT2D):c.1426G>A (p.Ala476Thr)
|
rs1064210
|
0.09584
|
NM_001360.3(DHCR7):c.231C>T (p.Thr77=)
|
rs4316537
|
0.08662
|
NM_030662.4(MAP2K2):c.192C>T (p.Val64=)
|
rs8157
|
0.06496
|
NM_002693.3(POLG):c.3708G>T (p.Gln1236His)
|
rs3087374
|
0.06272
|
NM_003244.4(TGIF1):c.487C>T (p.Pro163Ser)
|
rs4468717
|
0.06068
|
NM_002834.5(PTPN11):c.14+25G>C
|
rs7972574
|
0.05545
|
NM_002834.5(PTPN11):c.854-21C>T
|
rs41279090
|
0.05308
|
NM_001360.3(DHCR7):c.321+34C>A
|
rs76865413
|
0.05265
|
NM_003036.4(SKI):c.185C>G (p.Ala62Gly)
|
rs28384811
|
0.05253
|
NM_030662.4(MAP2K2):c.405G>C (p.Gly135=)
|
rs10424722
|
0.04706
|
NM_003244.4(TGIF1):c.488C>T (p.Pro163Leu)
|
rs2229333
|
0.04416
|
NM_002834.5(PTPN11):c.14+54C>A
|
rs7973432
|
0.04259
|
NM_006939.4(SOS2):c.1448G>A (p.Ser483Asn)
|
rs17122201
|
0.02622
|
NM_022455.5(NSD1):c.3106G>C (p.Ala1036Pro)
|
rs28932179
|
0.02602
|
NM_001378964.1(CDON):c.3526G>A (p.Val1176Ile)
|
rs78304400
|
0.02598
|
NM_001378964.1(CDON):c.197A>G (p.Lys66Arg)
|
rs7122277
|
0.02566
|
NM_133459.4(CCBE1):c.988-10A>G
|
rs115490148
|
0.02376
|
NM_005633.4(SOS1):c.3081+32A>G
|
rs6723430
|
0.02350
|
NM_001378964.1(CDON):c.1851+14G>A
|
rs113328989
|
0.02329
|
NM_001378964.1(CDON):c.1603G>A (p.Ala535Thr)
|
rs76247998
|
0.02319
|
NM_003482.4(KMT2D):c.4020+27A>G
|
rs77395760
|
0.02314
|
NM_001378964.1(CDON):c.2623A>G (p.Ser875Gly)
|
rs115533243
|
0.02079
|
NM_007129.5(ZIC2):c.1326C>T (p.Ser442=)
|
rs182192729
|
0.02065
|
NM_003482.4(KMT2D):c.5217C>T (p.Gly1739=)
|
rs111924728
|
0.01973
|
NM_003482.4(KMT2D):c.8091C>T (p.Arg2697=)
|
rs116686402
|
0.01940
|
NM_133459.4(CCBE1):c.123C>A (p.Asp41Glu)
|
rs80008675
|
0.01868
|
NM_001378964.1(CDON):c.1296G>A (p.Pro432=)
|
rs11220313
|
0.01713
|
NM_003482.4(KMT2D):c.7188T>C (p.Cys2396=)
|
rs111305262
|
0.01710
|
NM_030973.4(MED25):c.1483-7C>T
|
rs2017698
|
0.01612
|
NM_001378964.1(CDON):c.1051C>G (p.Pro351Ala)
|
rs35665264
|
0.01595
|
NM_030973.4(MED25):c.-12A>G
|
rs114843375
|
0.01532
|
NM_001879.6(MASP1):c.1703T>C (p.Val568Ala)
|
rs13322090
|
0.01525
|
NM_030973.4(MED25):c.2031G>A (p.Ala677=)
|
rs57854058
|
0.01517
|
NM_003482.4(KMT2D):c.11610G>A (p.Met3870Ile)
|
rs73302195
|
0.01486
|
NM_014822.4(SEC24D):c.125T>C (p.Met42Thr)
|
rs10029206
|
0.01448
|
NM_003036.4(SKI):c.99C>G (p.Gly33=)
|
rs200019352
|
0.01364
|
NM_003482.4(KMT2D):c.6807C>T (p.Ser2269=)
|
rs73302197
|
0.01361
|
NM_001360.3(DHCR7):c.627-29T>G
|
rs74742701
|
0.01323
|
NM_007373.4(SHOC2):c.457C>T (p.Leu153=)
|
rs34081996
|
0.01281
|
NM_139125.4(MASP1):c.1277G>A (p.Gly426Glu)
|
rs28945068
|
0.01228
|
NM_133459.4(CCBE1):c.837C>T (p.Pro279=)
|
rs61745250
|
0.01198
|
NM_003036.4(SKI):c.294C>T (p.Thr98=)
|
rs115746142
|
0.01188
|
NM_003244.4(TGIF1):c.16+1632C>T
|
rs114378990
|
0.01187
|
NM_001360.3(DHCR7):c.570C>T (p.Ala190=)
|
rs74909468
|
0.01097
|
NM_005633.4(SOS1):c.1203-20T>C
|
rs112906251
|
0.01058
|
NM_002834.5(PTPN11):c.525+12G>C
|
rs41304351
|
0.01035
|
NM_003482.4(KMT2D):c.7670C>T (p.Pro2557Leu)
|
rs189888707
|
0.01025
|
NM_001360.3(DHCR7):c.99-4G>A
|
rs140748737
|
0.00988
|
NM_001360.3(DHCR7):c.25A>T (p.Ile9Phe)
|
rs115595829
|
0.00983
|
NM_003036.4(SKI):c.456C>T (p.Arg152=)
|
rs149898447
|
0.00976
|
NM_006939.4(SOS2):c.2162-4C>A
|
rs57179949
|
0.00961
|
NM_003036.4(SKI):c.1211+11G>A
|
rs115186522
|
0.00934
|
NM_014822.4(SEC24D):c.653C>G (p.Ala218Gly)
|
rs35392900
|
0.00928
|
NM_002834.5(PTPN11):c.854-30T>C
|
rs144391508
|
0.00909
|
NM_014822.4(SEC24D):c.1576C>T (p.Leu526Phe)
|
rs141180741
|
0.00908
|
NM_030662.4(MAP2K2):c.303+18G>A
|
rs116988721
|
0.00894
|
NM_002834.5(PTPN11):c.854-32A>C
|
rs187389813
|
0.00867
|
NM_030973.4(MED25):c.1727C>G (p.Ala576Gly)
|
rs193291405
|
0.00836
|
NM_006939.4(SOS2):c.591A>G (p.Leu197=)
|
rs113460230
|
0.00834
|
NM_007129.5(ZIC2):c.528C>T (p.Asn176=)
|
rs143055297
|
0.00772
|
NM_006912.6(RIT1):c.375C>T (p.Asp125=)
|
rs34831194
|
0.00759
|
NM_006939.4(SOS2):c.3075+7C>T
|
rs144391749
|
0.00743
|
NM_030973.4(MED25):c.1482+19G>A
|
rs4802632
|
0.00704
|
NM_006939.4(SOS2):c.3489+19C>T
|
rs149825446
|
0.00700
|
NM_003482.4(KMT2D):c.7144C>T (p.Pro2382Ser)
|
rs3741626
|
0.00649
|
NM_001378964.1(CDON):c.3559C>T (p.Arg1187Cys)
|
rs150174788
|
0.00647
|
NM_139125.4(MASP1):c.1090+2877G>A
|
rs113938200
|
0.00638
|
NM_003036.4(SKI):c.1974C>T (p.Arg658=)
|
rs201895384
|
0.00623
|
NM_003036.4(SKI):c.1446G>A (p.Ala482=)
|
rs114345135
|
0.00570
|
NM_007373.4(SHOC2):c.1423-7C>T
|
rs180671383
|
0.00563
|
NM_006939.4(SOS2):c.2014C>A (p.Leu672Ile)
|
rs34139502
|
0.00561
|
NM_001378964.1(CDON):c.3588C>T (p.Asp1196=)
|
rs140895899
|
0.00553
|
NM_002834.5(PTPN11):c.757-69T>C
|
rs150087259
|
0.00468
|
NM_030973.4(MED25):c.1794C>T (p.Ala598=)
|
rs185100172
|
0.00456
|
NM_022455.5(NSD1):c.2169C>T (p.Thr723=)
|
rs11948062
|
0.00453
|
NM_001371986.1(UNC80):c.92+7G>A
|
rs200211384
|
0.00448
|
NM_001360.3(DHCR7):c.1008C>T (p.His336=)
|
rs75225632
|
0.00447
|
NM_022455.5(NSD1):c.1690G>T (p.Ala564Ser)
|
rs116520623
|
0.00445
|
NM_014822.4(SEC24D):c.2536A>G (p.Met846Val)
|
rs34510328
|
0.00443
|
NM_030973.4(MED25):c.1004C>T (p.Ala335Val)
|
rs145770066
|
0.00443
|
NM_003482.4(KMT2D):c.13045C>G (p.Pro4349Ala)
|
rs181733689
|
0.00433
|
NM_014822.4(SEC24D):c.2959-16G>T
|
rs58916284
|
0.00425
|
NM_013275.6(ANKRD11):c.5338G>A (p.Ala1780Thr)
|
rs75362060
|
0.00424
|
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg)
|
rs72681869
|
0.00421
|
NM_003036.4(SKI):c.1834C>T (p.Leu612=)
|
rs35833638
|
0.00418
|
NM_003036.4(SKI):c.1163C>T (p.Ala388Val)
|
rs75280988
|
0.00410
|
NM_030973.4(MED25):c.93C>T (p.Tyr31=)
|
rs61742955
|
0.00394
|
NM_006939.4(SOS2):c.1344G>A (p.Leu448=)
|
rs35530861
|
0.00350
|
NM_007129.5(ZIC2):c.213G>A (p.Pro71=)
|
rs189469383
|
0.00325
|
NM_003036.4(SKI):c.1410C>T (p.Pro470=)
|
rs150985728
|
0.00322
|
NM_005633.4(SOS1):c.3081+26G>A
|
rs186106971
|
0.00284
|
NM_001291415.2(KDM6A):c.1683+3G>A
|
rs61751429
|
0.00283
|
NM_030662.4(MAP2K2):c.846C>T (p.Pro282=)
|
rs11539506
|
0.00282
|
NM_003036.4(SKI):c.1527C>T (p.Ser509=)
|
rs111935632
|
0.00270
|
NM_003482.4(KMT2D):c.6629C>T (p.Pro2210Leu)
|
rs201190869
|
0.00260
|
NM_030973.4(MED25):c.2088G>A (p.Leu696=)
|
rs371157406
|
0.00252
|
NM_001360.3(DHCR7):c.399C>T (p.Ala133=)
|
rs147424205
|
0.00248
|
NM_000381.4(MID1):c.2000C>T (p.Pro667Leu)
|
rs147106995
|
0.00240
|
NM_005633.4(SOS1):c.1230G>A (p.Gln410=)
|
rs141390073
|
0.00217
|
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro)
|
rs4988347
|
0.00197
|
NM_024757.5(EHMT1):c.480C>T (p.Gly160=)
|
rs150135875
|
0.00193
|
NM_001360.3(DHCR7):c.321+10C>T
|
rs377108406
|
0.00189
|
NM_001347721.2(DYRK1A):c.1039A>G (p.Thr347Ala)
|
rs145857775
|
0.00186
|
NM_030662.4(MAP2K2):c.580+6G>A
|
rs201435249
|
0.00183
|
NM_001879.6(MASP1):c.1442-5C>G
|
rs138989954
|
0.00178
|
NM_003036.4(SKI):c.1211+19C>T
|
rs182600375
|
0.00178
|
NM_001879.6(MASP1):c.1528A>G (p.Ser510Gly)
|
rs28945070
|
0.00176
|
NM_003036.4(SKI):c.2184G>C (p.Pro728=)
|
rs543584871
|
0.00167
|
NM_030973.4(MED25):c.819+14C>T
|
rs188257265
|
0.00166
|
NM_003482.4(KMT2D):c.10256A>G (p.Asp3419Gly)
|
rs146044282
|
0.00152
|
NM_030973.4(MED25):c.1675-7C>T
|
rs79635160
|
0.00123
|
NM_014822.4(SEC24D):c.2681C>T (p.Thr894Met)
|
rs149063473
|
0.00116
|
NM_004715.5(CTDP1):c.1219T>C (p.Trp407Arg)
|
rs149090172
|
0.00103
|
NM_006939.4(SOS2):c.858+9A>G
|
rs201701595
|
0.00101
|
NM_003482.4(KMT2D):c.10233C>T (p.Asp3411=)
|
rs148688181
|
0.00100
|
NM_001079872.2(CUL4B):c.1857C>T (p.Cys619=)
|
rs148700620
|
0.00099
|
NM_003036.4(SKI):c.798C>T (p.Ala266=)
|
rs149642284
|
0.00097
|
NM_006939.4(SOS2):c.213+18A>T
|
rs143888968
|
0.00096
|
NM_014795.4(ZEB2):c.1161A>G (p.Leu387=)
|
rs146673563
|
0.00084
|
NM_003036.4(SKI):c.216C>T (p.Pro72=)
|
rs756778048
|
0.00083
|
NM_006939.4(SOS2):c.549G>C (p.Leu183Phe)
|
rs137961578
|
0.00083
|
NM_001291415.2(KDM6A):c.1907C>T (p.Thr636Met)
|
rs141353229
|
0.00079
|
NM_003036.4(SKI):c.417C>T (p.Ile139=)
|
rs144874401
|
0.00076
|
NM_003482.4(KMT2D):c.3737C>T (p.Thr1246Met)
|
rs112921115
|
0.00076
|
NM_014822.4(SEC24D):c.2135A>C (p.Asn712Thr)
|
rs146773641
|
0.00071
|
NM_003036.4(SKI):c.1593T>C (p.Pro531=)
|
rs144279718
|
0.00065
|
NM_030662.4(MAP2K2):c.1093-6T>C
|
rs369681843
|
0.00065
|
NM_001378964.1(CDON):c.1263T>C (p.Phe421=)
|
rs191544852
|
0.00056
|
NM_133459.4(CCBE1):c.265+8A>C
|
rs181010692
|
0.00052
|
NM_002834.5(PTPN11):c.1658C>T (p.Thr553Met)
|
rs148176616
|
0.00048
|
NM_003036.4(SKI):c.1734C>T (p.Ser578=)
|
rs117443908
|
0.00046
|
NM_006939.4(SOS2):c.1071A>G (p.Gln357=)
|
rs111961549
|
0.00046
|
NM_030973.4(MED25):c.664C>T (p.Leu222=)
|
rs147538736
|
0.00046
|
NM_006939.4(SOS2):c.2317G>C (p.Asp773His)
|
rs114711076
|
0.00041
|
NM_003244.4(TGIF1):c.723G>A (p.Pro241=)
|
rs114912664
|
0.00039
|
NM_030973.4(MED25):c.1231-8C>T
|
rs200594031
|
0.00036
|
NM_007373.4(SHOC2):c.704-16G>T
|
rs185614302
|
0.00033
|
NM_003036.4(SKI):c.948G>A (p.Lys316=)
|
rs368128582
|
0.00032
|
NM_003482.4(KMT2D):c.12889T>C (p.Ser4297Pro)
|
rs370243498
|
0.00031
|
NM_133459.4(CCBE1):c.966G>A (p.Ala322=)
|
rs144169027
|
0.00024
|
NM_003482.4(KMT2D):c.8382C>A (p.Gly2794=)
|
rs368967997
|
0.00020
|
NM_006939.4(SOS2):c.2712A>G (p.Glu904=)
|
rs143332839
|
0.00020
|
NM_001365999.1(SZT2):c.8031G>A (p.Ala2677=)
|
rs138303356
|
0.00019
|
NM_003036.4(SKI):c.799C>T (p.Leu267=)
|
rs140178396
|
0.00016
|
NM_003036.4(SKI):c.640A>G (p.Ser214Gly)
|
rs139179843
|
0.00013
|
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=)
|
rs202228407
|
0.00013
|
NM_133459.4(CCBE1):c.843A>T (p.Pro281=)
|
rs191592668
|
0.00013
|
NM_006939.4(SOS2):c.702G>A (p.Leu234=)
|
rs200208472
|
0.00012
|
NM_030662.4(MAP2K2):c.581-8G>A
|
rs369262004
|
0.00012
|
NM_001360.3(DHCR7):c.765C>T (p.Phe255=)
|
rs200132007
|
0.00011
|
NM_003036.4(SKI):c.970-5C>T
|
rs755318392
|
0.00011
|
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met)
|
rs80338853
|
0.00009
|
NM_003482.4(KMT2D):c.793C>T (p.Arg265Cys)
|
rs766543419
|
0.00009
|
NM_006939.4(SOS2):c.2600A>G (p.Asn867Ser)
|
rs561495878
|
0.00009
|
NM_002834.5(PTPN11):c.1599+33A>G
|
rs727505380
|
0.00008
|
NM_003036.4(SKI):c.1109T>C (p.Val370Ala)
|
rs138088528
|
0.00008
|
NM_030662.4(MAP2K2):c.258C>A (p.Val86=)
|
rs148437150
|
0.00008
|
NM_002834.5(PTPN11):c.137+35G>A
|
rs727505387
|
0.00006
|
NM_003036.4(SKI):c.360C>T (p.Arg120=)
|
rs375024753
|
0.00006
|
NM_004204.5(PIGQ):c.91G>A (p.Val31Met)
|
rs148273392
|
0.00006
|
NM_030662.4(MAP2K2):c.890G>A (p.Arg297Gln)
|
rs140111079
|
0.00006
|
NM_003036.4(SKI):c.994A>G (p.Ile332Val)
|
rs374264201
|
0.00005
|
NM_030662.4(MAP2K2):c.690G>A (p.Thr230=)
|
rs201287884
|
0.00005
|
NM_001360.3(DHCR7):c.1A>G (p.Met1Val)
|
rs104886033
|
0.00004
|
NM_001365999.1(SZT2):c.1272A>G (p.Gln424=)
|
rs780157180
|
0.00004
|
NM_003036.4(SKI):c.726C>T (p.Ala242=)
|
rs139227600
|
0.00004
|
NM_005633.4(SOS1):c.1490G>A (p.Arg497Gln)
|
rs371314838
|
0.00004
|
NM_007373.4(SHOC2):c.10A>C (p.Ser4Arg)
|
rs397517231
|
0.00004
|
NM_032043.3(BRIP1):c.1626C>T (p.Ser542=)
|
rs373709958
|
0.00004
|
NM_133433.4(NIPBL):c.5051C>A (p.Thr1684Lys)
|
rs774109272
|
0.00004
|
NM_176787.5(PIGN):c.896A>G (p.Gln299Arg)
|
rs576797024
|
0.00004
|
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg)
|
rs143312232
|
0.00003
|
NM_003036.4(SKI):c.1272G>A (p.Pro424=)
|
rs552946737
|
0.00003
|
NM_007373.4(SHOC2):c.170C>T (p.Ser57Phe)
|
rs536611911
|
0.00003
|
NM_139125.4(MASP1):c.1530A>C (p.Pro510=)
|
rs200791230
|
0.00003
|
NM_001291415.2(KDM6A):c.4255G>A (p.Gly1419Arg)
|
rs370298215
|
0.00002
|
NM_003036.4(SKI):c.625C>A (p.Leu209Met)
|
rs771298442
|
0.00002
|
NM_003482.4(KMT2D):c.4865G>C (p.Gly1622Ala)
|
rs377457393
|
0.00002
|
NM_005633.4(SOS1):c.396A>T (p.Ala132=)
|
rs727505385
|
0.00002
|
NM_006939.4(SOS2):c.3547C>T (p.Pro1183Ser)
|
rs139401491
|
0.00002
|
NM_007373.4(SHOC2):c.38A>C (p.Glu13Ala)
|
rs730881018
|
0.00002
|
NM_001360.3(DHCR7):c.1221C>A (p.Asn407Lys)
|
rs1481450955
|
0.00001
|
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu)
|
rs80338855
|
0.00001
|
NM_001360.3(DHCR7):c.823G>A (p.Val275Ile)
|
rs775628929
|
0.00001
|
NM_001360.3(DHCR7):c.98+20T>A
|
rs1017429578
|
0.00001
|
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)
|
rs121918457
|
0.00001
|
NM_002834.5(PTPN11):c.1599+26G>A
|
rs727505390
|
0.00001
|
NM_002834.5(PTPN11):c.1620C>T (p.His540=)
|
rs587781132
|
0.00001
|
NM_003036.4(SKI):c.1152C>T (p.Pro384=)
|
rs200160702
|
0.00001
|
NM_003036.4(SKI):c.1317C>T (p.Val439=)
|
rs1446526482
|
0.00001
|
NM_003482.4(KMT2D):c.10410G>T (p.Leu3470=)
|
rs747438612
|
0.00001
|
NM_003482.4(KMT2D):c.6235-32C>A
|
rs371302554
|
0.00001
|
NM_003482.4(KMT2D):c.7998C>A (p.Asp2666Glu)
|
rs1258008817
|
0.00001
|
NM_005633.4(SOS1):c.3290G>C (p.Ser1097Thr)
|
rs727505379
|
0.00001
|
NM_005633.4(SOS1):c.3347-20T>G
|
rs727505382
|
0.00001
|
NM_006015.6(ARID1A):c.437C>T (p.Pro146Leu)
|
rs781072025
|
0.00001
|
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)
|
rs267607048
|
0.00001
|
NM_014423.4(AFF4):c.2578T>G (p.Ser860Ala)
|
rs752814432
|
0.00001
|
NM_015443.4(KANSL1):c.542G>A (p.Arg181Gln)
|
rs771481251
|
0.00001
|
NM_030662.4(MAP2K2):c.814G>A (p.Ala272Thr)
|
rs757240576
|
0.00001
|
NM_030973.4(MED25):c.1230+7G>T
|
rs1412475364
|
0.00001
|
NM_030973.4(MED25):c.1899C>T (p.Pro633=)
|
rs1225715903
|
0.00001
|
NM_032043.3(BRIP1):c.1754C>A (p.Ala585Glu)
|
rs756946068
|
0.00001
|
NM_032043.3(BRIP1):c.1873T>C (p.Ser625Pro)
|
rs935011040
|
0.00001
|
NM_138927.4(SON):c.4451T>C (p.Met1484Thr)
|
rs768725387
|
0.00001
|
NM_001080517.3(SETD5):c.3197T>G (p.Val1066Gly)
|
|
|
NM_001080517.3(SETD5):c.3953C>G (p.Pro1318Arg)
|
rs2045789807
|
|
NM_001163435.3(TBCK):c.110A>T (p.Lys37Ile)
|
rs755840392
|
|
NM_001163435.3(TBCK):c.1322G>A (p.Arg441Lys)
|
rs1579346494
|
|
NM_001291415.2(KDM6A):c.1874C>T (p.Ser625Phe)
|
rs765545282
|
|
NM_001360.3(DHCR7):c.1066del (p.His356fs)
|
rs774291653
|
|
NM_001360.3(DHCR7):c.606C>T (p.Phe202=)
|
rs1591111340
|
|
NM_001360.3(DHCR7):c.662T>G (p.Met221Arg)
|
rs943223142
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001365999.1(SZT2):c.956C>G (p.Ala319Gly)
|
|
|
NM_001374828.1(ARID1B):c.1940del (p.Gly647fs)
|
|
|
NM_002834.3:c.1-140delG
|
|
|
NM_002834.5(PTPN11):c.124A>G (p.Thr42Ala)
|
rs397507501
|
|
NM_002834.5(PTPN11):c.1277A>C (p.His426Pro)
|
rs727505389
|
|
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser)
|
rs397507539
|
|
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu)
|
rs397507540
|
|
NM_002834.5(PTPN11):c.15-38C>T
|
rs727505378
|
|
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr)
|
rs121918458
|
|
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg)
|
rs397507545
|
|
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)
|
rs121918461
|
|
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)
|
rs121918460
|
|
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)
|
rs121918454
|
|
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile)
|
rs121918462
|
|
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys)
|
rs121918464
|
|
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)
|
rs121918466
|
|
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser)
|
rs121918463
|
|
NM_002834.5(PTPN11):c.923A>C (p.Asn308Thr)
|
rs121918455
|
|
NM_002834.5(PTPN11):c.933+25T>C
|
rs727505386
|
|
NM_003036.4(SKI):c.1096A>C (p.Ser366Arg)
|
rs1269741981
|
|
NM_003036.4(SKI):c.1311C>T (p.Ala437=)
|
rs140889128
|
|
NM_003036.4(SKI):c.1474+8_1474+9del
|
|
|
NM_003036.4(SKI):c.1887G>A (p.Glu629=)
|
rs771953750
|
|
NM_003036.4(SKI):c.1942C>G (p.Arg648Gly)
|
rs555623960
|
|
NM_003036.4(SKI):c.969+10C>T
|
|
|
NM_003482.4(KMT2D):c.12038G>A (p.Gly4013Glu)
|
rs1592118836
|
|
NM_003482.4(KMT2D):c.12793G>A (p.Gly4265Ser)
|
|
|
NM_003482.4(KMT2D):c.16412+16del
|
rs34546217
|
|
NM_003482.4(KMT2D):c.2798-7del
|
rs112620957
|
|
NM_003482.4(KMT2D):c.3392C>T (p.Pro1131Leu)
|
rs201623566
|
|
NM_003922.4(HERC1):c.12394C>T (p.Gln4132Ter)
|
|
|
NM_004153.4(ORC1):c.521C>T (p.Ala174Val)
|
|
|
NM_004187.5(KDM5C):c.2517-15T>A
|
|
|
NM_004247.4(EFTUD2):c.1832A>G (p.Asn611Ser)
|
|
|
NM_005445.4(SMC3):c.2024G>A (p.Arg675Gln)
|
rs2134745310
|
|
NM_005633.3:c.213+15C>G
|
|
|
NM_005633.4(SOS1):c.1310T>C (p.Ile437Thr)
|
rs397517150
|
|
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly)
|
rs137852814
|
|
NM_005633.4(SOS1):c.1655G>A (p.Arg552Lys)
|
rs397517154
|
|
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser)
|
rs267607079
|
|
NM_005633.4(SOS1):c.2104T>C (p.Tyr702His)
|
rs727505381
|
|
NM_005633.4(SOS1):c.2511-13_2511-9del
|
rs727503436
|
|
NM_005633.4(SOS1):c.2964+32T>G
|
rs727505384
|
|
NM_005633.4(SOS1):c.3433G>A (p.Asp1145Asn)
|
rs727505383
|
|
NM_005633.4(SOS1):c.797C>A (p.Thr266Lys)
|
rs137852812
|
|
NM_006245.4(PPP2R5D):c.619T>C (p.Trp207Arg)
|
rs869320691
|
|
NM_006565.4(CTCF):c.1365C>G (p.His455Gln)
|
rs1597725291
|
|
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)
|
rs730881014
|
|
NM_006912.6(RIT1):c.268A>G (p.Met90Val)
|
|
|
NM_006939.4(SOS2):c.1125T>C (p.Ile375=)
|
rs1885009611
|
|
NM_006939.4(SOS2):c.2057+19_2057+20del
|
rs111970905
|
|
NM_006939.4(SOS2):c.346-5C>T
|
|
|
NM_006939.4(SOS2):c.3490-13_3490-12dup
|
rs10658395
|
|
NM_006939.4(SOS2):c.3490-4del
|
rs10658395
|
|
NM_006939.4(SOS2):c.622G>A (p.Ala208Thr)
|
rs61755579
|
|
NM_006939.4(SOS2):c.775G>A (p.Gly259Ser)
|
|
|
NM_007129.5(ZIC2):c.1317del (p.Leu440fs)
|
rs1594292057
|
|
NM_007129.5(ZIC2):c.692ACC[10] (p.His239dup)
|
rs398124241
|
|
NM_007373.4(SHOC2):c.1541-7del
|
rs371544139
|
|
NM_013275.6(ANKRD11):c.3927G>A (p.Thr1309=)
|
rs143428884
|
|
NM_013275.6(ANKRD11):c.4250A>C (p.Asp1417Ala)
|
|
|
NM_014233.4(UBTF):c.403C>T (p.Pro135Ser)
|
rs2144550110
|
|
NM_014795.4(ZEB2):c.150C>A (p.Asp50Glu)
|
|
|
NM_014822.4(SEC24D):c.2093-14T>C
|
|
|
NM_015335.5(MED13L):c.338G>T (p.Gly113Val)
|
|
|
NM_015335.5(MED13L):c.829C>G (p.Arg277Gly)
|
|
|
NM_016023.5(OTUD6B):c.550G>A (p.Ala184Thr)
|
rs771021419
|
|
NM_016628.5(WAC):c.1470_1477del (p.Gln492fs)
|
rs1589247025
|
|
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter)
|
rs797044883
|
|
NM_030662.4(MAP2K2):c.335G>T (p.Arg112Leu)
|
rs2041142587
|
|
NM_030662.4(MAP2K2):c.650G>C (p.Gly217Ala)
|
|
|
NM_030662.4(MAP2K2):c.705+11G>C
|
rs202086678
|
|
NM_030662.4(MAP2K2):c.712C>T (p.Arg238Trp)
|
|
|
NM_030662.4(MAP2K2):c.985-19C>A
|
rs987549297
|
|
NM_030973.3(MED25):c.1482+1G>A
|
rs1568624159
|
|
NM_030973.4(MED25):c.1101+24_1101+42dup
|
rs564179307
|
|
NM_030973.4(MED25):c.1855C>A (p.Gln619Lys)
|
rs769034498
|
|
NM_030973.4(MED25):c.597C>A (p.Ala199=)
|
rs149788020
|
|
NM_030973.4(MED25):c.930A>T (p.Gln310His)
|
rs2074049426
|
|
NM_032043.3(BRIP1):c.1331G>C (p.Ser444Thr)
|
rs1603342140
|
|
NM_176787.5(PIGN):c.1117-1=
|
rs9959632
|
|
NM_176787.5(PIGN):c.49G>A (p.Ala17Thr)
|
|
|