NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_017886.4(ULK4):c.2056G>A (p.Val686Ile)
|
rs77615850
|
0.00402
|
NM_017886.4(ULK4):c.2887G>A (p.Val963Met)
|
rs188590896
|
0.00385
|
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)
|
rs121918166
|
0.00350
|
NM_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His)
|
rs28383481
|
0.00347
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
NM_003737.4(DCHS1):c.3158G>C (p.Trp1053Ser)
|
rs138340204
|
0.00335
|
NM_001330078.2(NRXN1):c.1285C>T (p.Pro429Ser)
|
rs78540316
|
0.00323
|
NM_017886.4(ULK4):c.2584C>T (p.Arg862Ter)
|
rs199884004
|
0.00282
|
NM_001330078.2(NRXN1):c.3365-110131T>G
|
rs193267438
|
0.00279
|
NM_000065.5(C6):c.2381+2T>C
|
rs76202909
|
0.00242
|
NM_004771.4(MMP20):c.954-2A>T
|
rs140213840
|
0.00224
|
NM_014801.4(PCNX2):c.3526C>T (p.His1176Tyr)
|
rs188041996
|
0.00224
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
NM_144666.3(DNHD1):c.5617C>A (p.Arg1873Ser)
|
rs575635539
|
0.00166
|
NM_001371986.1(UNC80):c.1806G>C (p.Gln602His)
|
rs200473652
|
0.00163
|
NM_020822.3(KCNT1):c.2729G>A (p.Arg910Gln)
|
rs151272083
|
0.00162
|
NM_183065.4(TMEM107):c.*759C>T
|
rs201787275
|
0.00162
|
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)
|
rs149617956
|
0.00160
|
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu)
|
rs138213197
|
0.00160
|
NM_001160372.4(TRAPPC9):c.3157C>T (p.Arg1053Cys)
|
rs147499593
|
0.00144
|
NM_018136.5(ASPM):c.5947A>T (p.Met1983Leu)
|
rs141715950
|
0.00115
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)
|
rs191312027
|
0.00101
|
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
|
rs113994152
|
0.00092
|
NM_001148.6(ANK2):c.4373A>G (p.Glu1458Gly)
|
rs72544141
|
0.00085
|
NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)
|
rs111033212
|
0.00077
|
NM_001160372.4(TRAPPC9):c.263C>T (p.Ser88Leu)
|
rs139631202
|
0.00072
|
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys)
|
rs146013446
|
0.00070
|
NM_024105.4(ALG12):c.319G>A (p.Val107Met)
|
rs147784926
|
0.00066
|
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)
|
rs121907943
|
0.00063
|
NM_001292063.2(OTOG):c.4770G>T (p.Arg1590Ser)
|
rs147052893
|
0.00054
|
NM_201378.4(PLEC):c.71-11866G>A
|
rs199505812
|
0.00054
|
NM_000391.4(TPP1):c.509-1G>C
|
rs56144125
|
0.00053
|
NM_000053.4(ATP7B):c.3688A>G (p.Ile1230Val)
|
rs200911496
|
0.00048
|
NM_014687.4(RUBCN):c.397C>T (p.His133Tyr)
|
rs201876836
|
0.00048
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)
|
rs387906309
|
0.00046
|
NM_014305.4(TGDS):c.298G>T (p.Ala100Ser)
|
rs140430952
|
0.00041
|
NM_001292063.2(OTOG):c.2464C>T (p.Gln822Ter)
|
rs554847663
|
0.00040
|
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)
|
rs28939378
|
0.00036
|
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)
|
rs80338848
|
0.00035
|
NM_016123.4(IRAK4):c.877C>T (p.Gln293Ter)
|
rs121908002
|
0.00035
|
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)
|
rs75541969
|
0.00033
|
NM_001332.4(CTNND2):c.671C>T (p.Pro224Leu)
|
rs769623284
|
0.00032
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
NM_000400.4(ERCC2):c.462C>G (p.His154Gln)
|
rs139263710
|
0.00029
|
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)
|
rs113993959
|
0.00029
|
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)
|
rs119103267
|
0.00029
|
NM_000083.3(CLCN1):c.1238T>G (p.Phe413Cys)
|
rs121912799
|
0.00028
|
NM_000484.4(APP):c.742G>A (p.Asp248Asn)
|
rs200103591
|
0.00028
|
NM_000100.4(CSTB):c.67-1G>C
|
rs147484110
|
0.00027
|
NM_000400.4(ERCC2):c.679C>T (p.Arg227Cys)
|
rs137910235
|
0.00026
|
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)
|
rs11549407
|
0.00026
|
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)
|
rs144078282
|
0.00025
|
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
NM_016146.6(TRAPPC4):c.454+3A>G
|
rs375776811
|
0.00025
|
NM_015836.4(WARS2):c.791A>G (p.Tyr264Cys)
|
rs139194636
|
0.00024
|
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)
|
rs75527207
|
0.00022
|
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met)
|
rs199473603
|
0.00021
|
NM_000520.6(HEXA):c.1073+1G>A
|
rs76173977
|
0.00021
|
NM_001369.3(DNAH5):c.10815del (p.Pro3606fs)
|
rs397515540
|
0.00021
|
NM_018136.5(ASPM):c.8558G>A (p.Arg2853Gln)
|
rs148245202
|
0.00020
|
NM_000255.4(MMUT):c.284C>T (p.Pro95Leu)
|
rs190834116
|
0.00019
|
NM_002471.4(MYH6):c.4328C>A (p.Ala1443Asp)
|
rs727503234
|
0.00019
|
NM_007255.3(B4GALT7):c.38G>A (p.Trp13Ter)
|
rs200503833
|
0.00019
|
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln)
|
rs202160208
|
0.00019
|
NM_024513.4(FYCO1):c.4271G>A (p.Arg1424Gln)
|
rs140159323
|
0.00019
|
NM_000218.3(KCNQ1):c.19C>T (p.Pro7Ser)
|
rs199473443
|
0.00018
|
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)
|
rs141498002
|
0.00017
|
NM_014270.5(SLC7A9):c.313G>A (p.Gly105Arg)
|
rs121908480
|
0.00017
|
NM_020821.3(VPS13C):c.10954C>T (p.Arg3652Ter)
|
rs138846118
|
0.00016
|
NM_025233.7(COASY):c.1064C>T (p.Pro355Leu)
|
rs373975726
|
0.00016
|
NM_003041.4(SLC5A2):c.885+5G>A
|
rs200228142
|
0.00014
|
NM_000169.3(GLA):c.1088G>A (p.Arg363His)
|
rs111422676
|
0.00013
|
NM_001048174.2(MUTYH):c.849+3A>C
|
rs587780751
|
0.00013
|
NM_001164508.2(NEB):c.61G>A (p.Glu21Lys)
|
rs199907781
|
0.00013
|
NM_019109.5(ALG1):c.1187+3A>G
|
rs369160589
|
0.00013
|
NM_138694.4(PKHD1):c.9241A>G (p.Ile3081Val)
|
rs142146981
|
0.00013
|
NM_003038.5(SLC1A4):c.766G>A (p.Glu256Lys)
|
rs201278558
|
0.00012
|
NM_000492.4(CFTR):c.489+1G>T
|
rs78756941
|
0.00011
|
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)
|
rs118192172
|
0.00011
|
NM_017866.6(TMEM70):c.317-2A>G
|
rs183973249
|
0.00011
|
NM_000256.3(MYBPC3):c.1504C>T (p.Arg502Trp)
|
rs375882485
|
0.00010
|
NM_000540.3(RYR1):c.10348-6C>G
|
rs193922837
|
0.00010
|
NM_001110.4(ADAM10):c.359T>C (p.Ile120Thr)
|
rs144890810
|
0.00010
|
NM_002109.6(HARS1):c.410G>A (p.Arg137Gln)
|
rs191391414
|
0.00010
|
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs)
|
rs746838237
|
0.00010
|
NM_000133.4(F9):c.1345C>T (p.Arg449Trp)
|
rs757996262
|
0.00009
|
NM_000426.4(LAMA2):c.715C>T (p.Arg239Cys)
|
rs145465528
|
0.00009
|
NM_000520.6(HEXA):c.459+5G>A
|
rs762060470
|
0.00009
|
NM_007325.5(GRIA3):c.580G>A (p.Gly194Arg)
|
rs189437004
|
0.00009
|
NM_001040192.3(DNAJC28):c.502G>T (p.Glu168Ter)
|
rs147358478
|
0.00008
|
NM_001329943.3(KIAA0586):c.1254-1G>C
|
rs757350052
|
0.00008
|
NM_002471.4(MYH6):c.4666G>A (p.Glu1556Lys)
|
rs148582147
|
0.00007
|
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer)
|
rs762890562
|
0.00007
|
NM_021120.4(DLG3):c.1721G>A (p.Arg574Gln)
|
rs149595793
|
0.00007
|
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)
|
rs121909374
|
0.00006
|
NM_000372.5(TYR):c.896G>A (p.Arg299His)
|
rs61754375
|
0.00006
|
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg)
|
rs371582179
|
0.00006
|
NM_000404.4(GLB1):c.601C>T (p.Arg201Cys)
|
rs72555360
|
0.00006
|
NM_000426.4(LAMA2):c.7978C>A (p.Leu2660Ile)
|
rs201587923
|
0.00006
|
NM_000518.5(HBB):c.79G>A (p.Glu27Lys)
|
rs33950507
|
0.00006
|
NM_000540.3(RYR1):c.7300G>A (p.Gly2434Arg)
|
rs121918593
|
0.00006
|
NM_000836.4(GRIN2D):c.2888G>A (p.Arg963His)
|
rs964725459
|
0.00006
|
NM_001360.3(DHCR7):c.-146C>T
|
rs903720947
|
0.00006
|
NM_001369.3(DNAH5):c.13486C>T (p.Arg4496Ter)
|
rs200901816
|
0.00006
|
NM_001384474.1(LOXHD1):c.6539G>A (p.Gly2180Glu)
|
rs763915229
|
0.00006
|
NM_003124.5(SPR):c.751A>T (p.Lys251Ter)
|
rs121917747
|
0.00006
|
NM_003401.5(XRCC4):c.640G>A (p.Glu214Lys)
|
rs746407658
|
0.00006
|
NM_004646.4(NPHS1):c.2227C>T (p.Arg743Cys)
|
rs386833909
|
0.00006
|
NM_016111.4(TELO2):c.1772T>G (p.Val591Gly)
|
rs142217951
|
0.00006
|
NM_017799.4(TMEM260):c.377C>T (p.Ala126Val)
|
rs1447833652
|
0.00006
|
NM_019616.4(F7):c.364+1G>A
|
rs1056071555
|
0.00006
|
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp)
|
rs180675584
|
0.00006
|
NM_152393.4(KLHL40):c.1405G>A (p.Gly469Ser)
|
rs367579275
|
0.00006
|
NM_181789.4(GLDN):c.95C>A (p.Ala32Glu)
|
rs779432560
|
0.00006
|
NM_001005242.3(PKP2):c.1237C>T (p.Arg413Ter)
|
rs372827156
|
0.00005
|
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter)
|
rs121434420
|
0.00005
|
NM_001286577.2(C2CD3):c.5929C>T (p.Arg1977Ter)
|
rs748668786
|
0.00005
|
NM_003632.3(CNTNAP1):c.2901_2902del (p.Cys968fs)
|
rs751050956
|
0.00005
|
NM_005371.6(METTL1):c.326G>A (p.Arg109Gln)
|
rs768213849
|
0.00005
|
NM_007325.5(GRIA3):c.466T>C (p.Tyr156His)
|
rs144902457
|
0.00005
|
NM_024870.4(PREX2):c.428G>A (p.Arg143Gln)
|
rs745857499
|
0.00005
|
NM_000021.4(PSEN1):c.103C>T (p.Arg35Trp)
|
rs746691776
|
0.00004
|
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs)
|
rs587781347
|
0.00004
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00004
|
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)
|
rs80359212
|
0.00004
|
NM_000070.3(CAPN3):c.2093G>A (p.Arg698His)
|
rs190793093
|
0.00004
|
NM_000083.3(CLCN1):c.920T>C (p.Phe307Ser)
|
rs80356701
|
0.00004
|
NM_000085.5(CLCNKB):c.1312C>T (p.Arg438Cys)
|
rs121909133
|
0.00004
|
NM_000113.3(TOR1A):c.719T>C (p.Leu240Ser)
|
rs377358943
|
0.00004
|
NM_000335.5(SCN5A):c.4874G>A (p.Arg1625His)
|
rs199473283
|
0.00004
|
NM_000372.5(TYR):c.832C>T (p.Arg278Ter)
|
rs62645904
|
0.00004
|
NM_000426.4(LAMA2):c.4118C>T (p.Pro1373Leu)
|
rs754163400
|
0.00004
|
NM_000520.6(HEXA):c.986+3A>G
|
rs200926928
|
0.00004
|
NM_001172560.3(SSTR5):c.293C>T (p.Thr98Met)
|
rs761743016
|
0.00004
|
NM_001253852.3(AP4B1):c.1177C>T (p.Arg393Ter)
|
rs374894037
|
0.00004
|
NM_001384125.1(BLTP1):c.11707C>T (p.His3903Tyr)
|
rs755836698
|
0.00004
|
NM_002180.3(IGHMBP2):c.1909C>T (p.Arg637Cys)
|
rs201563456
|
0.00004
|
NM_002860.4(ALDH18A1):c.2177G>A (p.Arg726His)
|
rs773714478
|
0.00004
|
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met)
|
rs72552732
|
0.00004
|
NM_006828.4(ASCC3):c.2763del (p.Leu922fs)
|
rs1462303140
|
0.00004
|
NM_006828.4(ASCC3):c.281C>T (p.Ala94Val)
|
rs143119831
|
0.00004
|
NM_017775.4(TTC19):c.583C>T (p.Gln195Ter)
|
rs764720544
|
0.00004
|
NM_019112.4(ABCA7):c.5035G>T (p.Glu1679Ter)
|
rs770510230
|
0.00004
|
NM_020137.5(GRIPAP1):c.1105G>C (p.Glu369Gln)
|
rs782702449
|
0.00004
|
NM_145691.4(ATPAF2):c.133+1G>T
|
rs147941728
|
0.00004
|
NM_152743.4(BRAT1):c.1313_1314del (p.Gln438fs)
|
rs749240175
|
0.00004
|
NM_000138.5(FBN1):c.6890C>T (p.Thr2297Met)
|
rs773785908
|
0.00003
|
NM_000218.3(KCNQ1):c.1552C>T (p.Arg518Ter)
|
rs17215500
|
0.00003
|
NM_000255.4(MMUT):c.38C>T (p.Pro13Leu)
|
rs1057518979
|
0.00003
|
NM_000255.4(MMUT):c.91C>T (p.Arg31Ter)
|
rs398123278
|
0.00003
|
NM_000489.6(ATRX):c.2150C>T (p.Pro717Leu)
|
rs372617572
|
0.00003
|
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr)
|
rs730882109
|
0.00003
|
NM_000527.5(LDLR):c.682G>T (p.Glu228Ter)
|
rs121908029
|
0.00003
|
NM_001005242.3(PKP2):c.2014-1G>C
|
rs193922674
|
0.00003
|
NM_001083116.3(PRF1):c.1349C>T (p.Thr450Met)
|
rs189650890
|
0.00003
|
NM_001142864.4(PIEZO1):c.1264C>T (p.Gln422Ter)
|
rs934897228
|
0.00003
|
NM_001145648.3(RASGRF1):c.1523G>T (p.Gly508Val)
|
rs148722229
|
0.00003
|
NM_001165963.4(SCN1A):c.4547C>T (p.Ser1516Leu)
|
rs139300715
|
0.00003
|
NM_001253852.3(AP4B1):c.319C>T (p.Arg107Trp)
|
rs74361335
|
0.00003
|
NM_001258392.3(CLPB):c.1159C>T (p.Arg387Ter)
|
rs200203460
|
0.00003
|
NM_001277062.2(MFF):c.284del (p.Thr95fs)
|
rs1285225437
|
0.00003
|
NM_001360.3(DHCR7):c.546G>A (p.Trp182Ter)
|
rs1032242817
|
0.00003
|
NM_002834.5(PTPN11):c.1174G>A (p.Ala392Thr)
|
rs774356443
|
0.00003
|
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln)
|
rs376607329
|
0.00003
|
NM_003060.4(SLC22A5):c.424G>T (p.Ala142Ser)
|
rs151231558
|
0.00003
|
NM_003737.4(DCHS1):c.4114G>A (p.Gly1372Ser)
|
rs869312675
|
0.00003
|
NM_004369.4(COL6A3):c.6869G>T (p.Arg2290Leu)
|
rs398124131
|
0.00003
|
NM_005159.5(ACTC1):c.941G>A (p.Arg314His)
|
rs121912673
|
0.00003
|
NM_005984.5(SLC25A1):c.844C>T (p.Arg282Cys)
|
rs431905509
|
0.00003
|
NM_007289.4(MME):c.1904G>A (p.Gly635Asp)
|
rs151302020
|
0.00003
|
NM_015213.4(DENND5A):c.2314C>T (p.Arg772Ter)
|
rs1057519563
|
0.00003
|
NM_015338.6(ASXL1):c.1210C>T (p.Arg404Ter)
|
rs373145711
|
0.00003
|
NM_016111.4(TELO2):c.2159A>T (p.Asp720Val)
|
rs878853271
|
0.00003
|
NM_017799.4(TMEM260):c.1869+1G>A
|
rs141599092
|
0.00003
|
NM_018161.5(NADSYN1):c.1459C>T (p.Arg487Ter)
|
rs368115694
|
0.00003
|
NM_018685.5(ANLN):c.1291C>T (p.Arg431Cys)
|
rs587777741
|
0.00003
|
NM_020975.6(RET):c.1998G>T (p.Lys666Asn)
|
rs146646971
|
0.00003
|
NM_025233.7(COASY):c.701-2A>C
|
rs1022433060
|
0.00003
|
NM_139058.3(ARX):c.166A>G (p.Ser56Gly)
|
rs144098296
|
0.00003
|
NM_000052.7(ATP7A):c.1789G>A (p.Val597Met)
|
rs781959472
|
0.00002
|
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)
|
rs63750617
|
0.00002
|
NM_000218.3(KCNQ1):c.1768G>A (p.Ala590Thr)
|
rs199472813
|
0.00002
|
NM_000256.3(MYBPC3):c.26-2A>G
|
rs376395543
|
0.00002
|
NM_000257.4(MYH7):c.1727A>G (p.His576Arg)
|
rs727504238
|
0.00002
|
NM_000257.4(MYH7):c.958G>A (p.Val320Met)
|
rs376897125
|
0.00002
|
NM_000334.4(SCN4A):c.4364T>C (p.Ile1455Thr)
|
rs377176361
|
0.00002
|
NM_000341.4(SLC3A1):c.1500+1G>T
|
rs886042834
|
0.00002
|
NM_000370.3(TTPA):c.552G>A (p.Thr184=)
|
rs181109321
|
0.00002
|
NM_000465.4(BARD1):c.1212C>G (p.Tyr404Ter)
|
rs587782681
|
0.00002
|
NM_001005242.3(PKP2):c.1481G>A (p.Trp494Ter)
|
rs193922672
|
0.00002
|
NM_001048174.2(MUTYH):c.715C>T (p.Gln239Ter)
|
rs786203115
|
0.00002
|
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala)
|
rs179363900
|
0.00002
|
NM_001142864.4(PIEZO1):c.2492C>T (p.Ser831Leu)
|
rs1471934686
|
0.00002
|
NM_001145118.2(GRID2IP):c.429+2T>G
|
rs1413118387
|
0.00002
|
NM_001282225.2(ADA2):c.336C>G (p.His112Gln)
|
rs587777241
|
0.00002
|
NM_001360.3(DHCR7):c.99-16G>A
|
rs993275449
|
0.00002
|
NM_001369.3(DNAH5):c.12617G>A (p.Trp4206Ter)
|
rs372118787
|
0.00002
|
NM_001371986.1(UNC80):c.6805G>A (p.Asp2269Asn)
|
rs886041094
|
0.00002
|
NM_001375405.1(CEP120):c.2323C>T (p.Gln775Ter)
|
rs759125480
|
0.00002
|
NM_001378452.1(ITPR1):c.3251C>T (p.Pro1084Leu)
|
rs1467772045
|
0.00002
|
NM_001378778.1(MPDZ):c.4003+1G>A
|
rs767038098
|
0.00002
|
NM_001605.3(AARS1):c.618G>T (p.Gln206His)
|
rs139785247
|
0.00002
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
NM_004211.5(SLC6A5):c.9C>A (p.Cys3Ter)
|
rs752254977
|
0.00002
|
NM_004370.6(COL12A1):c.8989C>T (p.Arg2997Trp)
|
rs757075255
|
0.00002
|
NM_005085.4(NUP214):c.3344C>T (p.Thr1115Met)
|
rs377273494
|
0.00002
|
NM_005138.3(SCO2):c.268C>T (p.Arg90Ter)
|
rs74315512
|
0.00002
|
NM_005334.3(HCFC1):c.1429G>A (p.Ala477Thr)
|
rs782010359
|
0.00002
|
NM_019026.6(TMCO1):c.187C>T (p.Arg63Ter)
|
rs765824628
|
0.00002
|
NM_020458.4(TTC7A):c.1433T>C (p.Leu478Pro)
|
rs201100272
|
0.00002
|
NM_020975.6(RET):c.2449C>T (p.Arg817Cys)
|
rs142318626
|
0.00002
|
NM_024105.4(ALG12):c.470-3C>T
|
rs751546611
|
0.00002
|
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs)
|
rs180177135
|
0.00002
|
NM_133178.4(PTPRU):c.3649G>C (p.Gly1217Arg)
|
rs80083765
|
0.00002
|
NM_153717.3(EVC):c.2782+1G>T
|
rs1007534611
|
0.00002
|
NM_201599.3(ZMYM3):c.3371G>A (p.Arg1124Gln)
|
rs761267440
|
0.00002
|
NM_000038.6(APC):c.1213C>T (p.Arg405Ter)
|
rs587779780
|
0.00001
|
NM_000059.4(BRCA2):c.3103G>T (p.Glu1035Ter)
|
rs80358556
|
0.00001
|
NM_000059.4(BRCA2):c.3785C>G (p.Ser1262Ter)
|
rs80358620
|
0.00001
|
NM_000059.4(BRCA2):c.631+2T>G
|
rs81002899
|
0.00001
|
NM_000059.4(BRCA2):c.8297del (p.Thr2766fs)
|
rs80359705
|
0.00001
|
NM_000070.3(CAPN3):c.1318C>T (p.Arg440Trp)
|
rs777323132
|
0.00001
|
NM_000083.3(CLCN1):c.950G>A (p.Arg317Gln)
|
rs80356702
|
0.00001
|
NM_000142.5(FGFR3):c.1210A>G (p.Lys404Glu)
|
rs780415133
|
0.00001
|
NM_000190.4(HMBS):c.346C>T (p.Arg116Trp)
|
rs118204094
|
0.00001
|
NM_000212.3(ITGB3):c.1132C>T (p.Arg378Cys)
|
rs774332906
|
0.00001
|
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)
|
rs12720458
|
0.00001
|
NM_000218.3(KCNQ1):c.477+5G>A
|
rs397508111
|
0.00001
|
NM_000218.3(KCNQ1):c.535G>A (p.Gly179Ser)
|
rs199473394
|
0.00001
|
NM_000218.3(KCNQ1):c.691C>T (p.Arg231Cys)
|
rs199473457
|
0.00001
|
NM_000238.4(KCNH2):c.1979C>T (p.Ser660Leu)
|
rs199472979
|
0.00001
|
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly)
|
rs267606908
|
0.00001
|
NM_000257.4(MYH7):c.428G>A (p.Arg143Gln)
|
rs397516209
|
0.00001
|
NM_000297.4(PKD2):c.1319+1G>A
|
rs1131692280
|
0.00001
|
NM_000303.3(PMM2):c.58C>T (p.Pro20Ser)
|
rs949271895
|
0.00001
|
NM_000303.3(PMM2):c.66+1G>T
|
rs937726878
|
0.00001
|
NM_000310.4(PPT1):c.776dup (p.Glu260fs)
|
rs1349528345
|
0.00001
|
NM_000335.5(SCN5A):c.2677C>T (p.Arg893Cys)
|
rs199473171
|
0.00001
|
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn)
|
rs137854618
|
0.00001
|
NM_000342.3(SLC4A1):c.1462G>A (p.Val488Met)
|
rs28931584
|
0.00001
|
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)
|
rs541269678
|
0.00001
|
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg)
|
rs796053439
|
0.00001
|
NM_000487.6(ARSA):c.256C>T (p.Arg86Trp)
|
rs199476352
|
0.00001
|
NM_000535.7(PMS2):c.248T>G (p.Leu83Ter)
|
rs1064794083
|
0.00001
|
NM_000535.7(PMS2):c.251-2A>T
|
rs587779340
|
0.00001
|
NM_000540.3(RYR1):c.5183C>T (p.Ser1728Phe)
|
rs193922781
|
0.00001
|
NM_000540.3(RYR1):c.7372C>T (p.Arg2458Cys)
|
rs28933397
|
0.00001
|
NM_000540.3(RYR1):c.8310+1G>T
|
rs1970380121
|
0.00001
|
NM_001012279.3(SOGA3):c.2289C>G (p.Asp763Glu)
|
rs1583082725
|
0.00001
|
NM_001077365.2(POMT1):c.697_699del (p.Asn233del)
|
rs761863400
|
0.00001
|
NM_001080517.3(SETD5):c.538C>T (p.Arg180Cys)
|
rs753185558
|
0.00001
|
NM_001145648.3(RASGRF1):c.604G>A (p.Asp202Asn)
|
rs769851165
|
0.00001
|
NM_001171613.2(PREPL):c.1244T>C (p.Leu415Ser)
|
rs1430753619
|
0.00001
|
NM_001201397.2(EDNRB):c.18T>A (p.Cys6Ter)
|
rs199927859
|
0.00001
|
NM_001203.3(BMPR1B):c.988C>T (p.His330Tyr)
|
rs1177728492
|
0.00001
|
NM_001205293.3(CACNA1E):c.1231C>T (p.Arg411Ter)
|
rs1484841139
|
0.00001
|
NM_001256627.2(BRSK2):c.1861C>T (p.Arg621Cys)
|
rs1198947199
|
0.00001
|
NM_001282874.2(SMARCA1):c.2161G>A (p.Asp721Asn)
|
rs766401027
|
0.00001
|
NM_001369268.1(ACAN):c.955G>A (p.Gly319Ser)
|
rs1044441746
|
0.00001
|
NM_001371072.1(USP11):c.2420G>A (p.Arg807Gln)
|
rs2055439072
|
0.00001
|
NM_001378778.1(MPDZ):c.2882_2885dup (p.Ser963fs)
|
rs747068627
|
0.00001
|
NM_001666.5(ARHGAP4):c.926T>G (p.Val309Gly)
|
rs1293728849
|
0.00001
|
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln)
|
rs121913008
|
0.00001
|
NM_002161.6(IARS1):c.1622C>T (p.Pro541Leu)
|
rs1286974333
|
0.00001
|
NM_002478.5(MYOD1):c.188C>A (p.Ser63Ter)
|
rs147517396
|
0.00001
|
NM_002860.4(ALDH18A1):c.1201G>A (p.Asp401Asn)
|
rs1242600175
|
0.00001
|
NM_002860.4(ALDH18A1):c.991A>C (p.Thr331Pro)
|
rs765380273
|
0.00001
|
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln)
|
rs772551056
|
0.00001
|
NM_003721.4(RFXANK):c.454_455del (p.Ile152fs)
|
rs753338285
|
0.00001
|
NM_004370.6(COL12A1):c.3901C>T (p.Arg1301Ter)
|
rs1304140510
|
0.00001
|
NM_004859.4(CLTC):c.1195C>T (p.Arg399Cys)
|
rs954500638
|
0.00001
|
NM_005061.3(RPL3L):c.80G>A (p.Gly27Asp)
|
rs770344400
|
0.00001
|
NM_005188.4(CBL):c.1139T>C (p.Leu380Pro)
|
rs1377506801
|
0.00001
|
NM_005273.4(GNB2):c.217G>A (p.Ala73Thr)
|
rs1424516740
|
0.00001
|
NM_005371.6(METTL1):c.370C>T (p.Arg124Cys)
|
rs755626987
|
0.00001
|
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp)
|
rs119482083
|
0.00001
|
NM_006421.5(ARFGEF1):c.2650A>G (p.Met884Val)
|
rs1490604083
|
0.00001
|
NM_006516.4(SLC2A1):c.601T>G (p.Cys201Gly)
|
rs1050933017
|
0.00001
|
NM_006516.4(SLC2A1):c.787T>C (p.Phe263Leu)
|
rs1302959508
|
0.00001
|
NM_007289.4(MME):c.1241A>G (p.Tyr414Cys)
|
rs202095767
|
0.00001
|
NM_007373.4(SHOC2):c.1439A>C (p.Asn480Thr)
|
rs995403413
|
0.00001
|
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)
|
rs267607048
|
0.00001
|
NM_014044.7(UNC50):c.360A>G (p.Ile120Met)
|
rs750243321
|
0.00001
|
NM_014425.5(INVS):c.1789C>T (p.Arg597Ter)
|
rs755288504
|
0.00001
|
NM_014619.5(GRIK4):c.1856G>A (p.Arg619His)
|
rs534517447
|
0.00001
|
NM_015213.4(DENND5A):c.3629G>A (p.Arg1210Gln)
|
rs1057519564
|
0.00001
|
NM_015512.5(DNAH1):c.3772C>T (p.Gln1258Ter)
|
rs1415820936
|
0.00001
|
NM_015836.4(WARS2):c.715C>T (p.Arg239Ter)
|
rs757600616
|
0.00001
|
NM_016032.4(ZDHHC9):c.893G>A (p.Arg298Gln)
|
rs869312679
|
0.00001
|
NM_016203.4(PRKAG2):c.547G>A (p.Glu183Lys)
|
rs1131692281
|
0.00001
|
NM_017654.4(SAMD9):c.2944C>T (p.Arg982Cys)
|
rs1247438528
|
0.00001
|
NM_017780.4(CHD7):c.5404+5G>A
|
rs1255859560
|
0.00001
|
NM_017934.7(PHIP):c.2368C>T (p.Gln790Ter)
|
rs1582175173
|
0.00001
|
NM_017934.7(PHIP):c.3706C>T (p.Arg1236Ter)
|
rs1554196416
|
0.00001
|
NM_020458.4(TTC7A):c.2495C>T (p.Ala832Val)
|
rs755985958
|
0.00001
|
NM_020549.5(CHAT):c.1211C>T (p.Ala404Val)
|
rs192592698
|
0.00001
|
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr)
|
rs77939446
|
0.00001
|
NM_021930.6(RINT1):c.1285C>A (p.Leu429Ile)
|
rs1790880304
|
0.00001
|
NM_021971.4(GMPPB):c.95C>T (p.Pro32Leu)
|
rs397509426
|
0.00001
|
NM_022552.5(DNMT3A):c.1743G>T (p.Trp581Cys)
|
rs769419803
|
0.00001
|
NM_025137.4(SPG11):c.1621C>T (p.Gln541Ter)
|
rs765061840
|
0.00001
|
NM_025137.4(SPG11):c.6899T>C (p.Leu2300Pro)
|
rs371334506
|
0.00001
|
NM_031407.7(HUWE1):c.659C>T (p.Thr220Ile)
|
rs782119109
|
0.00001
|
NM_032977.4(CASP10):c.1159C>G (p.Pro387Ala)
|
rs759782468
|
0.00001
|
NM_138694.4(PKHD1):c.8555-2A>C
|
rs1020621286
|
0.00001
|
NM_152393.4(KLHL40):c.100G>C (p.Asp34His)
|
rs778565563
|
0.00001
|
NM_153365.3(TAPT1):c.1032G>T (p.Met344Ile)
|
rs1338086129
|
0.00001
|
NM_153816.6(SNX14):c.2670del (p.Lys889_Cys890insTer)
|
rs774694340
|
0.00001
|
NM_182961.4(SYNE1):c.26152A>G (p.Arg8718Gly)
|
rs151281204
|
0.00001
|
NM_201378.4(PLEC):c.71-11602G>A
|
rs374484619
|
0.00001
|
GRCh37/hg19 10q11.22-11.23(chr10:46966535-51874356)x1
|
|
|
GRCh37/hg19 10q21.3(chr10:66337001-67764000)x3
|
|
|
GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1
|
|
|
GRCh37/hg19 11p15.5-15.4(chr11:230615-4851537)x3
|
|
|
GRCh37/hg19 12q11-13.12(chr12:37873948-49578619)x3
|
|
|
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3
|
|
|
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3
|
|
|
GRCh37/hg19 14q23.3(chr14:66881928-67493801)x1
|
|
|
GRCh37/hg19 14q32.2(chr14:101201380-101290903)x1
|
|
|
GRCh37/hg19 15q11.2(chr15:22746948-23323445)x1
|
|
|
GRCh37/hg19 15q11.2(chr15:22770421-23282799)x1
|
|
|
GRCh37/hg19 15q11.2-13.1(chr15:23707435-28726651)x1
|
|
|
GRCh37/hg19 15q13.1-13.2(chr15:28940039-30366124)x3
|
|
|
GRCh37/hg19 15q13.1-13.3(chr15:28780392-32784132)x1
|
|
|
GRCh37/hg19 15q13.2-13.3(chr15:30783603-32914393)x1
|
|
|
GRCh37/hg19 15q13.2-13.3(chr15:30819465-32509926)x1
|
|
|
GRCh37/hg19 15q25.3-26.3(chr15:86962053-102531392)x1
|
|
|
GRCh37/hg19 15q26.3(chr15:99389874-99438394)x1
|
|
|
GRCh37/hg19 16p11.2(chr16:29443322-30320321)x3
|
|
|
GRCh37/hg19 16p11.2(chr16:29448001-30302100)
|
|
|
GRCh37/hg19 16p11.2(chr16:29545794-30307472)x1
|
|
|
GRCh37/hg19 16p11.2(chr16:29565626-30221925)x1
|
|
|
GRCh37/hg19 16p11.2(chr16:29592797-30190593)x3
|
|
|
GRCh37/hg19 16p11.2(chr16:29601322-30201321)x1
|
|
|
GRCh37/hg19 16p12.2(chr16:21936726-22461225)x1
|
|
|
GRCh37/hg19 16p13.11(chr16:14886858-16328857)x3
|
|
|
GRCh37/hg19 16p13.11(chr16:14968855-16251122)x1
|
|
|
GRCh37/hg19 16p13.2(chr16:10031605-10033175)x1
|
|
|
GRCh37/hg19 16p13.2(chr16:8281005-9010923)x3
|
|
|
GRCh37/hg19 16p13.2(chr16:8852764-9388125)x3
|
|
|
GRCh37/hg19 16p13.3(chr16:96766-137939)x1
|
|
|
GRCh37/hg19 16p13.3-11.2(chr16:2959279-30190593)x3
|
|
|
GRCh37/hg19 17p11.2(chr17:17104302-17690077)x3
|
|
|
GRCh37/hg19 17p11.2(chr17:17117620-17118776)x1
|
|
|
GRCh37/hg19 17p12(chr17:14093318-15476314)x3
|
|
|
GRCh37/hg19 17p12(chr17:14111754-15442178)x1
|
|
|
GRCh37/hg19 17p12(chr17:14111754-15442178)x3
|
|
|
GRCh37/hg19 17p12(chr17:15027001-15183000)x3
|
|
|
GRCh37/hg19 17p13.1(chr17:7411849-7413057)x1
|
|
|
GRCh37/hg19 17p13.3(chr17:1479954-1585094)x1
|
|
|
GRCh37/hg19 17q21.2(chr17:40842168-40846218)x1
|
|
|
GRCh37/hg19 17q23.1(chr17:57664487-57682800)x1
|
|
|
GRCh37/hg19 18p11.32(chr18:10001-1322185)
|
|
|
GRCh37/hg19 18q11.2-12.2(chr18:23971647-33737300)x1
|
|
|
GRCh37/hg19 19p13.2(chr19:10957601-11672041)x1
|
|
|
GRCh37/hg19 19q12(chr19:30928351-30935204)x1
|
|
|
GRCh37/hg19 1p34.1(chr1:44346001-46332161)x3
|
|
|
GRCh37/hg19 1q21.1(chr1:145347631-145833118)x1
|
|
|
GRCh37/hg19 1q21.1-21.2(chr1:146500000-149500001)x3
|
|
|
GRCh37/hg19 1q43(chr1:237219730-238406325)x1
|
|
|
GRCh37/hg19 1q44(chr1:245476101-246429005)x3
|
|
|
GRCh37/hg19 20q13.12(chr20:42981187-42987120)x1
|
|
|
GRCh37/hg19 21p13-q22.3(chr21:1-48129895)x3
|
|
|
GRCh37/hg19 21q11.2-22.3(chr21:14629063-48090317)x3
|
|
|
GRCh37/hg19 22q11.1-11.21(chr22:16850000-18885000)x3
|
|
|
GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3
|
|
|
GRCh37/hg19 22q11.21(chr22:18628147-21722313)x3
|
|
|
GRCh37/hg19 22q11.21(chr22:18661699-21457610)x1
|
|
|
GRCh37/hg19 22q11.21(chr22:18718028-21326012)x1
|
|
|
GRCh37/hg19 22q11.21(chr22:18765102-21661435)x1
|
|
|
GRCh37/hg19 22q11.21(chr22:18884514-21484289)x1
|
|
|
GRCh37/hg19 22q11.21(chr22:18884714-21483289)x1
|
|
|
GRCh37/hg19 22q11.21(chr22:18889969-21462658)x1
|
|
|
GRCh37/hg19 22q11.21(chr22:20737912-21465659)x3
|
|
|
GRCh37/hg19 22q11.21(chr22:20754407-21457610)x1
|
|
|
GRCh37/hg19 22q11.21(chr22:21081284-21457610)x1
|
|
|
GRCh37/hg19 22q11.23(chr22:23720181-25066484)x3
|
|
|
GRCh37/hg19 2p15(chr2:63521229-63572056)x1
|
|
|
GRCh37/hg19 2q13(chr2:111368818-113065741)x3
|
|
|
GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3
|
|
|
GRCh37/hg19 3p26.3(chr3:227001-2211981)
|
|
|
GRCh37/hg19 3q29(chr3:195693872-197376871)x3
|
|
|
GRCh37/hg19 4p16.3(chr4:1420948-1836794)x3
|
|
|
GRCh37/hg19 4q13.3-21.3(chr4:71412409-87920784)x1
|
|
|
GRCh37/hg19 4q32.3-35.1(chr4:169108358-184425536)x1
|
|
|
GRCh37/hg19 4q35.2(chr4:188898012-190542602)x1
|
|
|
GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3
|
|
|
GRCh37/hg19 5p14.3(chr5:19101001-20164000)x3
|
|
|
GRCh37/hg19 5p15.33-13.3(chr5:22149-29048823)x1
|
|
|
GRCh37/hg19 6p12.3-12.1(chr6:48626041-55575545)x1
|
|
|
GRCh37/hg19 6p25.3(chr6:152849-1888703)x1
|
|
|
GRCh37/hg19 6q21(chr6:109796301-113083437)x3
|
|
|
GRCh37/hg19 6q22.1-22.31(chr6:117951874-119112156)x1
|
|
|
GRCh37/hg19 7p13(chr7:45058501-45136990)x1
|
|
|
GRCh37/hg19 7p21.2(chr7:13998001-15227144)x3
|
|
|
GRCh37/hg19 7q11.21(chr7:62495083-64927758)x1
|
|
|
GRCh37/hg19 7q36.2-36.3(chr7:152800000-159138663)x1
|
|
|
GRCh37/hg19 8p22(chr8:15721096-16208574)x3
|
|
|
GRCh37/hg19 8q24.12-24.13(chr8:121938227-125485728)x1
|
|
|
GRCh37/hg19 8q24.3(chr8:144902401-144905800)x1
|
|
|
GRCh37/hg19 9p24.3-24.2(chr9:204090-2430905)x1
|
|
|
GRCh37/hg19 9q21.33(chr9:88201316-88224515)x1
|
|
|
GRCh37/hg19 9q34.3(chr9:139356644-139427066)x1
|
|
|
GRCh37/hg19 Xp11.21-q28(chrX:55507789-155198481)x3
|
|
|
GRCh37/hg19 Xp11.21-q28(chrX:56469080-155233731)x3
|
|
|
GRCh37/hg19 Xp22.12(chrX:20007752-20498564)x0
|
|
|
GRCh37/hg19 Xp22.2(chrX:10578932-11326337)x2
|
|
|
GRCh37/hg19 Xp22.31(chrX:6453324-8136507)x0
|
|
|
GRCh37/hg19 Xp22.33(chrX:480367-862460)x3
|
|
|
GRCh37/hg19 Xp22.33-11.21(chrX:168546-56457794)x1
|
|
|
GRCh37/hg19 Xp22.33-11.21(chrX:219609-55466476)x1
|
|
|
GRCh37/hg19 Xq13.1(chrX:70386654-70743623)x2
|
|
|
GRCh37/hg19 Xq21.1(chrX:79979500-81247449)x2
|
|
|
GRCh37/hg19 Xq24(chrX:118679335-118744405)x0
|
|
|
GRCh37/hg19 Xq26.1-26.2(chrX:130085469-130482969)x0
|
|
|
GRCh37/hg19 Yp11.32-11.2(chrY:10701-5080415)x2
|
|
|
GRCh38/hg38 20p13(chr20:453176-822262)x1
|
|
|
NC_012920.1:m.13094T>C
|
rs1603224029
|
|
NC_012920.1:m.3243A>G
|
rs199474657
|
|
NM_000018.4(ACADVL):c.507_527del (p.Met169_Gly175del)
|
rs796051920
|
|
NM_000033.4(ABCD1):c.1849C>T (p.Arg617Cys)
|
rs4010613
|
|
NM_000037.4(ANK1):c.4000C>T (p.Arg1334Ter)
|
rs1172677213
|
|
NM_000051.4(ATM):c.4373del (p.Gly1458fs)
|
rs587781653
|
|
NM_000059.4(BRCA2):c.1736T>G (p.Leu579Ter)
|
rs1131692274
|
|
NM_000059.4(BRCA2):c.2224C>T (p.Gln742Ter)
|
rs80358494
|
|
NM_000059.4(BRCA2):c.3201del (p.Val1068fs)
|
rs864622672
|
|
NM_000059.4(BRCA2):c.3689del (p.Ser1230fs)
|
rs80359398
|
|
NM_000059.4(BRCA2):c.3847_3848del (p.Val1283fs)
|
rs80359405
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
NM_000059.4(BRCA2):c.5350_5351del (p.Asn1784fs)
|
rs80359507
|
|
NM_000059.4(BRCA2):c.5351del (p.Asn1784fs)
|
rs80359507
|
|
NM_000059.4(BRCA2):c.5616_5620del (p.Lys1872fs)
|
rs80359525
|
|
NM_000059.4(BRCA2):c.658_659del (p.Val220fs)
|
rs80359604
|
|
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter)
|
rs80358928
|
|
NM_000059.4(BRCA2):c.8488-1G>A
|
rs397507404
|
|
NM_000085.5(CLCNKB):c.18dup (p.Leu7fs)
|
rs953686324
|
|
NM_000088.4(COL1A1):c.3226G>A (p.Gly1076Ser)
|
rs67394386
|
|
NM_000089.4(COL1A2):c.1072G>A (p.Gly358Ser)
|
rs66619856
|
|
NM_000094.4(COL7A1):c.3376_3386del (p.Tyr1126fs)
|
rs765699235
|
|
NM_000113.3(TOR1A):c.304G>A (p.Gly102Arg)
|
|
|
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del)
|
rs80358233
|
|
NM_000113.3(TOR1A):c.949A>T (p.Lys317Ter)
|
rs1564181992
|
|
NM_000138.5(FBN1):c.6431A>G (p.Asn2144Ser)
|
rs137854461
|
|
NM_000141.5(FGFR2):c.758C>T (p.Pro253Leu)
|
rs77543610
|
|
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu)
|
rs78311289
|
|
NM_000147.5(FUCA1):c.1125G>A (p.Trp375Ter)
|
rs794727774
|
|
NM_000152.5(GAA):c.1540G>A (p.Gly514Ser)
|
rs777571608
|
|
NM_000168.6(GLI3):c.1343C>T (p.Ala448Val)
|
rs912576738
|
|
NM_000168.6(GLI3):c.4431dup (p.Glu1478Ter)
|
rs1057520063
|
|
NM_000168.6(GLI3):c.758A>G (p.Asp253Gly)
|
rs2128741235
|
|
NM_000169.3(GLA):c.1024C>T (p.Arg342Ter)
|
rs104894843
|
|
NM_000170.3(GLDC):c.1545G>C (p.Arg515Ser)
|
rs121964976
|
|
NM_000179.3(MSH6):c.1634_1637del (p.Lys545fs)
|
rs63749874
|
|
NM_000179.3(MSH6):c.3699_3702del (p.Lys1233fs)
|
rs193922343
|
|
NM_000179.3(MSH6):c.3847_3850dup (p.Thr1284fs)
|
rs267608128
|
|
NM_000193.4(SHH):c.100_101del (p.Arg34fs)
|
rs1584806077
|
|
NM_000207.2(INS):c.-187_-164del
|
rs1135401727
|
|
NM_000214.3(JAG1):c.2675G>A (p.Cys892Tyr)
|
|
|
NM_000214.3(JAG1):c.588C>A (p.Cys196Ter)
|
rs1801138
|
|
NM_000216.4(ANOS1):c.1354+1del
|
rs764687970
|
|
NM_000218.3(KCNQ1):c.1096C>T (p.Arg366Trp)
|
rs199473411
|
|
NM_000228.3(LAMB3):c.1423G>A (p.Gly475Ser)
|
|
|
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter)
|
rs63750540
|
|
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp)
|
rs63751665
|
|
NM_000249.4(MLH1):c.955G>T (p.Glu319Ter)
|
rs63750796
|
|
NM_000251.3(MSH2):c.1708del (p.Tyr570fs)
|
rs1131692279
|
|
NM_000251.3(MSH2):c.2228C>G (p.Ser743Ter)
|
rs63751155
|
|
NM_000256.3(MYBPC3):c.1351+2T>C
|
rs397515897
|
|
NM_000256.3(MYBPC3):c.3330+5G>C
|
rs373746463
|
|
NM_000256.3(MYBPC3):c.833del (p.Gly278fs)
|
rs727503212
|
|
NM_000257.4(MYH7):c.1217_1218del (p.Val406fs)
|
rs1892824277
|
|
NM_000257.4(MYH7):c.2341C>A (p.Leu781Met)
|
rs1348730180
|
|
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)
|
rs121913628
|
|
NM_000266.4(NDP):c.220C>T (p.Arg74Cys)
|
rs727504031
|
|
NM_000275.3(OCA2):c.2055del (p.Phe685fs)
|
rs772595552
|
|
NM_000276.4(OCRL):c.2464C>T (p.Arg822Ter)
|
rs1602819835
|
|
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)
|
rs606231189
|
|
NM_000284.4(PDHA1):c.461A>G (p.His154Arg)
|
rs1131692230
|
|
NM_000284.4(PDHA1):c.624C>A (p.Tyr208Ter)
|
rs2147180742
|
|
NM_000284.4(PDHA1):c.630G>T (p.Met210Ile)
|
rs2147180753
|
|
NM_000284.4(PDHA1):c.907A>G (p.Thr303Ala)
|
rs1602231489
|
|
NM_000303.3(PMM2):c.205C>T (p.Pro69Ser)
|
rs769648248
|
|
NM_000308.4(CTSA):c.51_54delinsC (p.Leu19del)
|
rs886039898
|
|
NM_000310.4(PPT1):c.442G>T (p.Gly148Ter)
|
rs2124484378
|
|
NM_000314.8(PTEN):c.389del (p.Arg130fs)
|
rs121913292
|
|
NM_000314.8(PTEN):c.470A>G (p.Glu157Gly)
|
rs1085308051
|
|
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met)
|
rs121908547
|
|
NM_000368.5(TSC1):c.1237del (p.Gln413fs)
|
rs1588321344
|
|
NM_000381.4(MID1):c.1495G>A (p.Val499Met)
|
rs868016081
|
|
NM_000384.3(APOB):c.10580G>A (p.Arg3527Gln)
|
|
|
NM_000435.3(NOTCH3):c.6409_6410del (p.Leu2137fs)
|
|
|
NM_000458.4(HNF1B):c.241G>T (p.Glu81Ter)
|
rs2034113963
|
|
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs)
|
rs587780024
|
|
NM_000465.4(BARD1):c.872del (p.Thr291fs)
|
rs1574818832
|
|
NM_000466.3(PEX1):c.1966C>T (p.Pro656Ser)
|
|
|
NM_000484.4(APP):c.1090C>T (p.Leu364Phe)
|
rs749453173
|
|
NM_000489.6(ATRX):c.1322C>G (p.Thr441Arg)
|
rs2148625660
|
|
NM_000489.6(ATRX):c.1423C>T (p.His475Tyr)
|
rs146863015
|
|
NM_000489.6(ATRX):c.536A>G (p.Asn179Ser)
|
rs398123425
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.4(CFTR):c.1021_1022dup (p.Phe342fs)
|
rs387906360
|
|
NM_000492.4(CFTR):c.2052dup (p.Gln685fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
|
|
|
NM_000527.5(LDLR):c.1775G>A (p.Gly592Glu)
|
|
|
NM_000527.5(LDLR):c.551G>A (p.Cys184Tyr)
|
|
|
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)
|
rs63750250
|
|
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)
|
rs201451115
|
|
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)
|
rs267608150
|
|
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter)
|
rs587780062
|
|
NM_000540.3(RYR1):c.14104T>C (p.Trp4702Arg)
|
rs2145874187
|
|
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His)
|
rs63749869
|
|
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)
|
rs118192170
|
|
NM_000540.3(RYR1):c.1925+1G>C
|
rs1967488222
|
|
NM_000540.3(RYR1):c.2411C>T (p.Pro804Leu)
|
rs1057524519
|
|
NM_000548.5(TSC2):c.1362-10C>A
|
rs45446697
|
|
NM_000587.4(C7):c.1561C>A (p.Arg521Ser)
|
rs121964920
|
|
NM_000781.3(CYP11A1):c.508_509del (p.Leu170fs)
|
rs1567053134
|
|
NM_000807.4(GABRA2):c.862A>G (p.Thr288Ala)
|
|
|
NM_000834.5(GRIN2B):c.1858G>A (p.Val620Met)
|
rs796052571
|
|
NM_000834.5(GRIN2B):c.2045G>A (p.Arg682His)
|
rs886041095
|
|
NM_000834.5(GRIN2B):c.2053A>C (p.Thr685Pro)
|
rs869312669
|
|
NM_000924.4(PDE1B):c.256C>T (p.Gln86Ter)
|
|
|
NM_000924.4(PDE1B):c.735+5G>A
|
|
|
NM_000937.5(POLR2A):c.1166C>G (p.Thr389Ser)
|
rs1597795846
|
|
NM_001003694.2(BRPF1):c.1755_1756delinsT (p.Lys585fs)
|
rs1559662068
|
|
NM_001003694.2(BRPF1):c.3456CTT[1] (p.Phe1154del)
|
rs1553697341
|
|
NM_001003800.2(BICD2):c.2080C>T (p.Arg694Cys)
|
rs797045412
|
|
NM_001003800.2(BICD2):c.2320G>A (p.Glu774Lys)
|
rs1131691347
|
|
NM_001005242.3(PKP2):c.1896G>A (p.Trp632Ter)
|
rs193922673
|
|
NM_001005242.3(PKP2):c.2065_2070delinsG (p.His689fs)
|
rs397517021
|
|
NM_001005273.3(CHD3):c.4280G>A (p.Trp1427Ter)
|
rs1555613750
|
|
NM_001005361.3(DNM2):c.982G>A (p.Ala328Thr)
|
rs2145978260
|
|
NM_001007157.2(PHF14):c.964T>G (p.Cys322Gly)
|
rs2128310303
|
|
NM_001008537.3(NEXMIF):c.2999_3000del (p.Ser1000fs)
|
rs875989829
|
|
NM_001009999.3(KDM1A):c.1720A>G (p.Lys574Glu)
|
rs1553131717
|
|
NM_001012426.2(FOXP4):c.193del (p.Gln65fs)
|
rs1562018111
|
|
NM_001015877.2(PHF6):c.1024C>T (p.Arg342Ter)
|
rs132630297
|
|
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp)
|
rs1557539450
|
|
NM_001024383.2(NAV3):c.4600T>G (p.Ser1534Ala)
|
|
|
NM_001024383.2(NAV3):c.664C>T (p.Gln222Ter)
|
|
|
NM_001029896.2(WDR45):c.516+5G>A
|
|
|
NM_001029896.2(WDR45):c.611G>A (p.Gly204Asp)
|
rs878855326
|
|
NM_001029896.2(WDR45):c.973+1G>A
|
rs869312661
|
|
NM_001032221.6(STXBP1):c.451_454del (p.Asp151fs)
|
|
|
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His)
|
rs796053361
|
|
NM_001035.3(RYR2):c.2139G>A (p.Trp713Ter)
|
rs2150449007
|
|
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys)
|
rs1131692231
|
|
NM_001037442.4(RUFY3):c.764dup (p.Gln256fs)
|
rs869312879
|
|
NM_001039469.3(MARK2):c.1931G>T (p.Arg644Leu)
|
|
|
NM_001039469.3(MARK2):c.581T>C (p.Phe194Ser)
|
rs1940729976
|
|
NM_001039469.3(MARK2):c.904C>T (p.Arg302Ter)
|
rs1468332923
|
|
NM_001039591.3(USP9X):c.4817A>G (p.Asp1606Gly)
|
rs2063039248
|
|
NM_001040142.2(SCN2A):c.2774T>C (p.Met925Thr)
|
rs1057518373
|
|
NM_001040142.2(SCN2A):c.3399+3359C>A
|
|
|
NM_001040142.2(SCN2A):c.4468A>G (p.Met1490Val)
|
rs869312663
|
|
NM_001040142.2(SCN2A):c.4644G>C (p.Met1548Ile)
|
rs1574746759
|
|
NM_001040142.2(SCN2A):c.4726G>A (p.Gly1576Arg)
|
rs869312664
|
|
NM_001042492.3(NF1):c.1722-2A>G
|
rs763983337
|
|
NM_001042492.3(NF1):c.1845+1G>A
|
rs1567845945
|
|
NM_001042492.3(NF1):c.3596C>G (p.Thr1199Arg)
|
rs1555615047
|
|
NM_001042492.3(NF1):c.4228T>A (p.Phe1410Ile)
|
rs2151461937
|
|
NM_001042492.3(NF1):c.587-2A>G
|
rs1057518360
|
|
NM_001042603.3(KDM5A):c.4557A>T (p.Glu1519Asp)
|
|
|
NM_001042681.2(RERE):c.14A>G (p.Lys5Arg)
|
rs1553128615
|
|
NM_001047160.3(NET1):c.839A>G (p.Lys280Arg)
|
rs869312683
|
|
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)
|
rs587778541
|
|
NM_001048174.2(MUTYH):c.225G>A (p.Trp75Ter)
|
rs748170941
|
|
NM_001069.3(TUBB2A):c.728C>T (p.Pro243Leu)
|
rs1554122947
|
|
NM_001077365.2(POMT1):c.174CTT[2] (p.Phe60del)
|
rs750195040
|
|
NM_001077415.3(CRELD1):c.726G>T (p.Lys242Asn)
|
rs911089166
|
|
NM_001079559.3(HNRNPUL2):c.642C>A (p.Tyr214Ter)
|
rs1590900583
|
|
NM_001079872.2(CUL4B):c.2523G>C (p.Lys841Asn)
|
rs1556181426
|
|
NM_001081550.2(THOC2):c.2366G>A (p.Ser789Asn)
|
|
|
NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter)
|
rs121909122
|
|
NM_001083962.2(TCF4):c.1486G>T (p.Gly496Cys)
|
rs1599570613
|
|
NM_001083962.2(TCF4):c.294del (p.Arg99fs)
|
rs1603483654
|
|
NM_001083962.2(TCF4):c.850C>T (p.His284Tyr)
|
rs869312695
|
|
NM_001083962.2(TCF4):c.919_922+2delinsGTCCC
|
rs1555789019
|
|
NM_001083962.2(TCF4):c.978delinsGG (p.Ala327fs)
|
rs863223404
|
|
NM_001101.5(ACTB):c.812C>T (p.Ser271Phe)
|
rs1784805528
|
|
NM_001105244.2(PTPRM):c.1749A>G (p.Ile583Met)
|
rs2090405367
|
|
NM_001105539.3(ZBTB10):c.466C>T (p.Arg156Ter)
|
rs2131466699
|
|
NM_001110556.2(FLNA):c.623-8C>A
|
rs111542756
|
|
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)
|
rs267608327
|
|
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)
|
rs61748421
|
|
NM_001110792.2(MECP2):c.63-6C>G
|
rs267608411
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001111125.3(IQSEC2):c.4015C>T (p.Pro1339Ser)
|
rs1602257111
|
|
NM_001127222.2(CACNA1A):c.1785C>G (p.Tyr595Ter)
|
rs2057948502
|
|
NM_001127222.2(CACNA1A):c.2133C>G (p.Ile711Met)
|
rs764839814
|
|
NM_001127222.2(CACNA1A):c.4174G>A (p.Val1392Met)
|
rs794727411
|
|
NM_001127222.2(CACNA1A):c.4633C>T (p.Arg1545Ter)
|
rs121909324
|
|
NM_001127222.2(CACNA1A):c.4979G>A (p.Arg1660His)
|
rs121908216
|
|
NM_001127222.2(CACNA1A):c.5690T>G (p.Met1897Arg)
|
rs2144595037
|
|
NM_001127222.2(CACNA1A):c.6091G>C (p.Val2031Leu)
|
|
|
NM_001127222.2(CACNA1A):c.851G>T (p.Gly284Val)
|
rs1555773757
|
|
NM_001127392.3(MYRF):c.1200C>A (p.Asn400Lys)
|
rs1565295267
|
|
NM_001127392.3(MYRF):c.2074C>G (p.Leu692Val)
|
rs1162309498
|
|
NM_001127392.3(MYRF):c.2572+1G>A
|
rs2066528136
|
|
NM_001127644.2(GABRA1):c.94C>T (p.Gln32Ter)
|
rs769743354
|
|
NM_001127649.3(PEX26):c.34dup (p.Leu12fs)
|
rs61752129
|
|
NM_001130004.2(ACTN1):c.2201A>G (p.Gln734Arg)
|
rs1555343284
|
|
NM_001130004.2(ACTN1):c.313G>A (p.Val105Ile)
|
rs387907345
|
|
NM_001130438.3(SPTAN1):c.73C>T (p.Arg25Ter)
|
rs2132957934
|
|
NM_001130987.2(DYSF):c.3498_3499delinsAA (p.Tyr1166_Gly1167delinsTer)
|
rs398123781
|
|
NM_001134407.3(GRIN2A):c.4375A>G (p.Ser1459Gly)
|
rs869312681
|
|
NM_001134673.4(NFIA):c.250C>T (p.Arg84Ter)
|
rs1553149185
|
|
NM_001134831.2(AHI1):c.1052G>A (p.Arg351Gln)
|
rs397514726
|
|
NM_001134831.2(AHI1):c.2988del (p.Val997fs)
|
rs755246809
|
|
NM_001142966.3(GREB1L):c.157+1del
|
rs2040417979
|
|
NM_001142966.3(GREB1L):c.3977del (p.Lys1326fs)
|
rs2145944441
|
|
NM_001142966.3(GREB1L):c.3983del (p.Gly1328fs)
|
rs2145944530
|
|
NM_001143854.2(RPH3A):c.1349C>G (p.Thr450Ser)
|
rs869312710
|
|
NM_001148.6(ANK2):c.11046del (p.Gln3683fs)
|
rs878853166
|
|
NM_001161352.2(KCNMA1):c.2594G>A (p.Arg865His)
|
rs2152943638
|
|
NM_001161352.2(KCNMA1):c.2846A>G (p.Asn949Ser)
|
rs1565091862
|
|
NM_001164508.2(NEB):c.20401G>T (p.Gly6801Ter)
|
rs1405498595
|
|
NM_001165963.4(SCN1A):c.2589+3A>T
|
rs794726775
|
|
NM_001165963.4(SCN1A):c.2590C>A (p.Leu864Met)
|
rs140035595
|
|
NM_001165963.4(SCN1A):c.2648T>C (p.Ile883Thr)
|
rs2105808409
|
|
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter)
|
rs794726710
|
|
NM_001165963.4(SCN1A):c.3704del (p.Leu1235fs)
|
rs869312670
|
|
NM_001165963.4(SCN1A):c.4002+2420G>A
|
|
|
NM_001165963.4(SCN1A):c.4002+2451G>C
|
rs869312684
|
|
NM_001165963.4(SCN1A):c.4002+2543A>G
|
|
|
NM_001165963.4(SCN1A):c.4003-603T>C
|
|
|
NM_001165963.4(SCN1A):c.707T>C (p.Ile236Thr)
|
rs886039464
|
|
NM_001171876.2(MCF2):c.2462G>T (p.Gly821Val)
|
|
|
NM_001172509.2(SATB2):c.1131_1132del (p.Ser378fs)
|
rs875989830
|
|
NM_001172509.2(SATB2):c.1495A>T (p.Lys499Ter)
|
rs878853163
|
|
NM_001172509.2(SATB2):c.1964C>T (p.Pro655Leu)
|
rs1553538919
|
|
NM_001173464.2(KIF21A):c.706C>T (p.Gln236Ter)
|
rs267603451
|
|
NM_001173464.2(KIF21A):c.847C>T (p.Arg283Cys)
|
|
|
NM_001184749.3(SLITRK4):c.611G>A (p.Arg204His)
|
|
|
NM_001184880.2(PCDH19):c.2008G>C (p.Glu670Gln)
|
|
|
NM_001190274.2(FBXO11):c.1576G>A (p.Ala526Thr)
|
rs1572785471
|
|
NM_001190274.2(FBXO11):c.2666A>T (p.Asp889Val)
|
|
|
NM_001193511.2(MAP3K12):c.1099A>G (p.Ser367Gly)
|
|
|
NM_001197104.2(KMT2A):c.11587G>A (p.Gly3863Ser)
|
rs1591311290
|
|
NM_001197104.2(KMT2A):c.8149del (p.Ile2717fs)
|
rs1131692268
|
|
NM_001199013.2(STPG1):c.738-3255C>T
|
rs1641311517
|
|
NM_001200.4(BMP2):c.939G>A (p.Trp313Ter)
|
rs1600173481
|
|
NM_001205293.3(CACNA1E):c.1580_1581delinsAA (p.Met527Lys)
|
rs1572690989
|
|
NM_001205293.3(CACNA1E):c.3544C>T (p.Arg1182Cys)
|
rs759093976
|
|
NM_001205293.3(CACNA1E):c.5764C>T (p.Gln1922Ter)
|
rs1558390377
|
|
NM_001242896.3(DEPDC5):c.1840A>T (p.Arg614Ter)
|
|
|
NM_001242896.3(DEPDC5):c.4097G>T (p.Arg1366Leu)
|
rs1064795095
|
|
NM_001244008.2(KIF1A):c.265T>G (p.Tyr89Asp)
|
rs869312711
|
|
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp)
|
rs672601370
|
|
NM_001256012.3(MYH10):c.2338C>T (p.Arg780Ter)
|
rs757650929
|
|
NM_001256627.2(BRSK2):c.1532_1533del (p.Glu511fs)
|
rs1135402760
|
|
NM_001256627.2(BRSK2):c.530+1G>A
|
rs1554904159
|
|
NM_001256627.2(BRSK2):c.635G>A (p.Gly212Glu)
|
rs1554904772
|
|
NM_001267550.2(TTN):c.107889del (p.Lys35963fs)
|
rs281864930
|
|
NM_001267550.2(TTN):c.68308del (p.Thr22770fs)
|
rs1064796112
|
|
NM_001271.4(CHD2):c.1552del (p.Gln518fs)
|
rs869312705
|
|
NM_001271.4(CHD2):c.3787dup (p.Val1263fs)
|
rs869312877
|
|
NM_001273.5(CHD4):c.2978A>G (p.Asn993Ser)
|
rs1592273799
|
|
NM_001273.5(CHD4):c.2993A>T (p.Asn998Ile)
|
|
|
NM_001278116.2(L1CAM):c.1268-1G>A
|
rs1603275538
|
|
NM_001282225.2(ADA2):c.1082-1113del
|
rs1568968051
|
|
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)
|
rs886041116
|
|
NM_001282531.3(ADNP):c.2318dup (p.Tyr774fs)
|
rs1057518978
|
|
NM_001282531.3(ADNP):c.517C>T (p.Arg173Ter)
|
rs1135401791
|
|
NM_001282531.3(ADNP):c.736C>T (p.Arg246Cys)
|
rs2122760828
|
|
NM_001282874.2(SMARCA1):c.1874A>G (p.Asp625Gly)
|
rs1934065144
|
|
NM_001282874.2(SMARCA1):c.2354A>G (p.Asn785Ser)
|
rs1933619118
|
|
NM_001286577.2(C2CD3):c.185G>C (p.Arg62Pro)
|
rs138748539
|
|
NM_001287491.2(TET3):c.5231G>A (p.Arg1744His)
|
|
|
NM_001288705.3(CSF1R):c.2699G>A (p.Arg900Lys)
|
rs1757092904
|
|
NM_001290047.2(CECR2):c.2281C>T (p.Arg761Ter)
|
rs2147031368
|
|
NM_001291415.2(KDM6A):c.4317T>A (p.Tyr1439Ter)
|
rs1603068073
|
|
NM_001292034.3(TAB2):c.203T>C (p.Ile68Thr)
|
|
|
NM_001300860.2(DDX46):c.2819A>G (p.Asn940Ser)
|
rs2150159210
|
|
NM_001303052.2(MYT1L):c.1559T>C (p.Leu520Pro)
|
rs1057519560
|
|
NM_001306089.2(ZNF236):c.700A>G (p.Lys234Glu)
|
rs2122623348
|
|
NM_001312909.2(FAM111A):c.931A>T (p.Ile311Phe)
|
rs145826377
|
|
NM_001318852.2(MAPK8IP3):c.2450C>A (p.Ala817Asp)
|
rs1555458045
|
|
NM_001320.7(CSNK2B):c.202C>T (p.Gln68Ter)
|
rs2151187172
|
|
NM_001320.7(CSNK2B):c.229G>T (p.Glu77Ter)
|
rs1583608433
|
|
NM_001323289.2(CDKL5):c.89G>A (p.Cys30Tyr)
|
rs1555940536
|
|
NM_001326342.2(CELF2):c.289T>G (p.Phe97Val)
|
|
|
NM_001330260.2(SCN8A):c.3295G>A (p.Ala1099Thr)
|
rs1592151654
|
|
NM_001330260.2(SCN8A):c.3942+248C>G
|
|
|
NM_001330260.2(SCN8A):c.4146_4147dup (p.Asn1383fs)
|
rs1555228380
|
|
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln)
|
rs587777721
|
|
NM_001330260.2(SCN8A):c.5276A>G (p.Asn1759Ser)
|
rs869312690
|
|
NM_001330260.2(SCN8A):c.719T>C (p.Ile240Thr)
|
rs1592387849
|
|
NM_001330360.2(POLA1):c.3046A>G (p.Thr1016Ala)
|
rs2045884607
|
|
NM_001330683.2(TTC3):c.5557G>A (p.Val1853Met)
|
rs2084866145
|
|
NM_001330700.2(TOP2B):c.3451C>G (p.Leu1151Val)
|
rs1702479861
|
|
NM_001332.4(CTNND2):c.762C>G (p.Tyr254Ter)
|
rs1131692267
|
|
NM_001347721.2(DYRK1A):c.1612C>T (p.Gln538Ter)
|
rs869312708
|
|
NM_001347721.2(DYRK1A):c.449dup (p.Tyr150Ter)
|
rs1057516030
|
|
NM_001348716.2(KDM6B):c.3945-2A>T
|
rs2151379290
|
|
NM_001352702.2(PTK2):c.2563C>T (p.Arg855Ter)
|
|
|
NM_001356.5(DDX3X):c.1171-2A>C
|
rs2147356545
|
|
NM_001356.5(DDX3X):c.619C>T (p.Gln207Ter)
|
rs869312692
|
|
NM_001356.5(DDX3X):c.745G>T (p.Glu249Ter)
|
rs752738546
|
|
NM_001358.3(DHX15):c.1327A>G (p.Lys443Glu)
|
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001365068.1(ASTN2):c.3598+1G>A
|
|
|
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met)
|
rs1564493599
|
|
NM_001366521.1(ATP2B1):c.1907_1908del (p.Val636fs)
|
rs2136050284
|
|
NM_001367479.1(DNAH14):c.3406A>C (p.Lys1136Gln)
|
|
|
NM_001367479.1(DNAH14):c.5237T>C (p.Leu1746Ser)
|
|
|
NM_001367721.1(CASK):c.1997dup (p.Asn666fs)
|
rs1602253464
|
|
NM_001368894.2(PAX6):c.260G>A (p.Gly87Asp)
|
rs2135097306
|
|
NM_001368894.2(PAX6):c.341G>A (p.Trp114Ter)
|
rs1554985320
|
|
NM_001369.3(DNAH5):c.11028+5G>A
|
rs1419129615
|
|
NM_001369268.1(ACAN):c.37del (p.Val13fs)
|
rs1596128744
|
|
NM_001369268.1(ACAN):c.600C>G (p.Asp200Glu)
|
rs550550807
|
|
NM_001369268.1(ACAN):c.613_616dup (p.Asp206delinsGlyTer)
|
rs2141567062
|
|
NM_001369268.1(ACAN):c.6697C>T (p.His2233Tyr)
|
rs1596148604
|
|
NM_001369369.1(FOXN1):c.1364_1367del (p.Tyr455fs)
|
rs2151499024
|
|
NM_001370100.5(ZMYND11):c.22C>T (p.Arg8Ter)
|
rs1060499626
|
|
NM_001370785.2(LRRC7):c.4700T>A (p.Leu1567Gln)
|
|
|
NM_001371928.1(AHDC1):c.2229del (p.Ser744fs)
|
rs886039900
|
|
NM_001372044.2(SHANK3):c.1235C>G
|
rs869312715
|
|
NM_001372044.2(SHANK3):c.3388del (p.Glu1130fs)
|
rs2146830613
|
|
NM_001372044.2(SHANK3):c.3389del (p.Glu1130fs)
|
|
|
NM_001372044.2(SHANK3):c.3988dup (p.Arg1330fs)
|
rs1603447135
|
|
NM_001372044.2(SHANK3):c.4904C>G (p.Ser1635Trp)
|
|
|
NM_001372066.1(TFAP2A):c.758G>A (p.Gly253Glu)
|
rs151344527
|
|
NM_001372066.1(TFAP2A):c.769A>G (p.Arg257Gly)
|
rs121909574
|
|
NM_001374258.1(BRAF):c.1523T>C (p.Phe508Ser)
|
rs397507473
|
|
NM_001374828.1(ARID1B):c.1293_1317del (p.Ala433fs)
|
rs1778944605
|
|
NM_001374828.1(ARID1B):c.2452C>T (p.Gln818Ter)
|
rs869312712
|
|
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=)
|
rs797045277
|
|
NM_001374828.1(ARID1B):c.5239C>T (p.Arg1747Ter)
|
rs1554236040
|
|
NM_001374828.1(ARID1B):c.5939_5942del (p.Lys1980fs)
|
rs886041706
|
|
NM_001374828.1(ARID1B):c.6469C>T (p.Gln2157Ter)
|
rs869312697
|
|
NM_001375380.1(EBF3):c.1128+1G>T
|
rs797046136
|
|
NM_001375380.1(EBF3):c.530C>T (p.Pro177Leu)
|
rs869312668
|
|
NM_001375380.1(EBF3):c.636+1G>A
|
rs1589767274
|
|
NM_001375405.1(CEP120):c.226A>G (p.Lys76Glu)
|
rs1311902826
|
|
NM_001375912.1(ZNF532):c.3444dup (p.Val1149fs)
|
rs2147793377
|
|
NM_001376.5(DYNC1H1):c.10573C>T (p.Arg3525Cys)
|
rs869312693
|
|
NM_001376.5(DYNC1H1):c.10939C>G (p.Pro3647Ala)
|
rs2152594696
|
|
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys)
|
rs587780564
|
|
NM_001376.5(DYNC1H1):c.2868+2_2868+5delinsCCACAAA
|
rs2141276717
|
|
NM_001376.5(DYNC1H1):c.5873A>G (p.Asp1958Gly)
|
|
|
NM_001376571.1(MADD):c.3070C>T (p.Gln1024Ter)
|
rs148016422
|
|
NM_001377265.1(MAPT):c.2350A>G (p.Ile784Val)
|
rs991713081
|
|
NM_001378328.1(CELSR1):c.8719dup (p.Asp2907fs)
|
rs751828682
|
|
NM_001378418.1(TCF20):c.5385_5386del (p.Cys1795fs)
|
rs869312678
|
|
NM_001378452.1(ITPR1):c.2354T>A (p.Leu785His)
|
rs2125214071
|
|
NM_001378452.1(ITPR1):c.2806G>A (p.Gly936Ser)
|
rs1559671950
|
|
NM_001378452.1(ITPR1):c.7605_7606del (p.Thr2535_Cys2536insTer)
|
rs2106492882
|
|
NM_001378452.1(ITPR1):c.7784G>A (p.Gly2595Glu)
|
rs869312685
|
|
NM_001379029.1(CERT1):c.905C>A (p.Ser302Tyr)
|
rs1417704749
|
|
NM_001379110.1(SLC9A6):c.1189del (p.Ala397fs)
|
|
|
NM_001379403.1(WDR26):c.1136G>A (p.Arg379Gln)
|
rs774272467
|
|
NM_001379403.1(WDR26):c.1411G>C (p.Ala471Pro)
|
rs2102905325
|
|
NM_001379403.1(WDR26):c.1525T>G (p.Trp509Gly)
|
rs1553354956
|
|
NM_001379403.1(WDR26):c.1537G>A (p.Asp513Asn)
|
rs1553354952
|
|
NM_001384125.1(BLTP1):c.14628G>T (p.Lys4876Asn)
|
rs1433976424
|
|
NM_001384474.1(LOXHD1):c.894T>G (p.Tyr298Ter)
|
rs886043441
|
|
NM_001384574.2(SAMD4B):c.1569G>C (p.Trp523Cys)
|
rs2077859510
|
|
NM_001385012.1(NBEA):c.2836C>T (p.His946Tyr)
|
rs869312667
|
|
NM_001385012.1(NBEA):c.6637C>T (p.Arg2213Ter)
|
rs878853169
|
|
NM_001386135.1(AFF3):c.697G>A (p.Ala233Thr)
|
rs1131692272
|
|
NM_001386888.1(AFDN):c.2557_2559delinsTGA (p.Ile853Ter)
|
rs1057519562
|
|
NM_001388303.1(HECTD4):c.4958+1G>A
|
|
|
NM_001388303.1(HECTD4):c.9985C>T (p.Gln3329Ter)
|
rs1555248311
|
|
NM_001388485.1(LMTK3):c.189dup (p.Arg64fs)
|
rs2147562120
|
|
NM_001393769.1(MED12L):c.6097C>T (p.Gln2033Ter)
|
rs1553815325
|
|
NM_001394062.1(MACF1):c.11650C>T (p.Gln3884Ter)
|
rs1553300826
|
|
NM_001400265.1(MTCL3):c.2332G>C (p.Gly778Arg)
|
rs2114834964
|
|
NM_001429.4(EP300):c.4763T>C (p.Met1588Thr)
|
rs1057521737
|
|
NM_001429.4(EP300):c.6691del (p.Met2231fs)
|
rs1601641819
|
|
NM_001453.3(FOXC1):c.1157del (p.Gly386fs)
|
rs1762550387
|
|
NM_001453.3(FOXC1):c.387C>A (p.Asn129Lys)
|
rs751776784
|
|
NM_001614.5(ACTG1):c.1000G>C (p.Glu334Gln)
|
rs1598546921
|
|
NM_001658.4(ARF1):c.143C>T (p.Thr48Ile)
|
rs1571844539
|
|
NM_001663.4(ARF6):c.187G>A (p.Asp63Asn)
|
rs1594840787
|
|
NM_001664.4(RHOA):c.181G>A (p.Ala61Thr)
|
rs1575647051
|
|
NM_001690.4(ATP6V1A):c.1294T>A (p.Phe432Ile)
|
|
|
NM_001807.6(CEL):c.337C>T (p.Gln113Ter)
|
rs1200339761
|
|
NM_001844.5(COL2A1):c.1826G>T (p.Gly609Val)
|
rs140580674
|
|
NM_001844.5(COL2A1):c.1937dup (p.Ala647fs)
|
rs2136558900
|
|
NM_001844.5(COL2A1):c.2464G>A (p.Gly822Ser)
|
rs2136539942
|
|
NM_001844.5(COL2A1):c.2594del (p.Pro865fs)
|
rs2136537559
|
|
NM_001844.5(COL2A1):c.3563G>C (p.Gly1188Ala)
|
rs1592197682
|
|
NM_001844.5(COL2A1):c.491del (p.Pro164fs)
|
rs1592235241
|
|
NM_001845.6(COL4A1):c.1612C>T (p.Arg538Trp)
|
rs397514624
|
|
NM_001845.6(COL4A1):c.3556G>A (p.Gly1186Ser)
|
rs1877701802
|
|
NM_001853.4(COL9A3):c.1425_1442del (p.Lys477_Pro482del)
|
rs1600810127
|
|
NM_001853.4(COL9A3):c.700C>T (p.Arg234Ter)
|
rs1027769042
|
|
NM_001943.5(DSG2):c.2955del (p.Val986fs)
|
rs1064794709
|
|
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs)
|
rs397516706
|
|
NM_001991.5(EZH1):c.1217G>A (p.Arg406His)
|
rs1597832055
|
|
NM_002007.4(FGF4):c.611C>A (p.Pro204His)
|
rs2119827064
|
|
NM_002080.4(GOT2):c.1084C>T (p.Leu362Phe)
|
|
|
NM_002080.4(GOT2):c.569A>T (p.Asp190Val)
|
|
|
NM_002107.7(H3-3A):c.365C>T (p.Pro122Leu)
|
rs1576203003
|
|
NM_002139.4(RBMX):c.287C>T (p.Pro96Leu)
|
|
|
NM_002161.6(IARS1):c.226G>A (p.Gly76Arg)
|
rs372859203
|
|
NM_002397.5(MEF2C):c.71G>A (p.Arg24Lys)
|
rs869312698
|
|
NM_002397.5(MEF2C):c.88AAG[1] (p.Lys31del)
|
|
|
NM_002547.3(OPHN1):c.2035G>A (p.Asp679Asn)
|
rs869312676
|
|
NM_002577.4(PAK2):c.1205C>T (p.Thr402Ile)
|
rs2108772943
|
|
NM_002578.5(PAK3):c.988G>A (p.Asp330Asn)
|
rs1603373843
|
|
NM_002585.4(PBX1):c.67del (p.Ser23fs)
|
rs2101678386
|
|
NM_002641.4(PIGA):c.395C>G (p.Ser132Cys)
|
rs1060499625
|
|
NM_002714.4(PPP1R10):c.1295C>T (p.Ala432Val)
|
|
|
NM_002742.3(PRKD1):c.2219G>A (p.Arg740Gln)
|
rs752897300
|
|
NM_002807.4(PSMD1):c.418C>T (p.Arg140Ter)
|
rs1693924262
|
|
NM_002819.5(PTBP1):c.2T>C (p.Met1Thr)
|
rs1599210325
|
|
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala)
|
rs121918469
|
|
NM_002834.5(PTPN11):c.1409T>C (p.Ile470Thr)
|
rs2038706856
|
|
NM_002834.5(PTPN11):c.1507G>C (p.Gly503Arg)
|
rs397507545
|
|
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)
|
rs397507505
|
|
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.317A>C (p.Asp106Ala)
|
rs397507517
|
|
NM_002834.5(PTPN11):c.772G>A (p.Glu258Lys)
|
rs1279770165
|
|
NM_002834.5(PTPN11):c.846C>G (p.Ile282Met)
|
rs397507530
|
|
NM_002880.4(RAF1):c.776C>G (p.Ser259Cys)
|
rs397516827
|
|
NM_002911.4(UPF1):c.2080C>T (p.Arg694Trp)
|
|
|
NM_002968.3(SALL1):c.269dup (p.Pro91fs)
|
rs2143452445
|
|
NM_002968.3(SALL1):c.3782C>T (p.Pro1261Leu)
|
rs376879952
|
|
NM_003021.4(SGTA):c.823C>T (p.Gln275Ter)
|
rs1599495454
|
|
NM_003038.5(SLC1A4):c.1035-381_1230-73del
|
rs1553375174
|
|
NM_003042.4(SLC6A1):c.1352A>G (p.Asp451Gly)
|
rs869312680
|
|
NM_003070.5(SMARCA2):c.3485G>A (p.Arg1162His)
|
rs281875186
|
|
NM_003070.5(SMARCA2):c.3562G>A (p.Ala1188Thr)
|
rs281875196
|
|
NM_003072.5(SMARCA4):c.2476G>T (p.Ala826Ser)
|
rs1057524313
|
|
NM_003072.5(SMARCA4):c.2851G>A (p.Gly951Arg)
|
rs1060499936
|
|
NM_003091.4(SNRPB):c.155+301G>C
|
rs786201019
|
|
NM_003105.6(SORL1):c.1247G>A (p.Arg416Gln)
|
rs377550239
|
|
NM_003112.5(SP4):c.90dup (p.Asn31Ter)
|
|
|
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del)
|
rs768823392
|
|
NM_003124.5(SPR):c.106G>A (p.Val36Met)
|
rs869312688
|
|
NM_003345.5(UBE2I):c.428A>G (p.Glu143Gly)
|
|
|
NM_003401.5(XRCC4):c.356C>T (p.Pro119Leu)
|
rs768175717
|
|
NM_003482.4(KMT2D):c.13871C>T (p.Ser4624Leu)
|
rs886043233
|
|
NM_003482.4(KMT2D):c.14110A>T (p.Ser4704Cys)
|
rs1592110663
|
|
NM_003482.4(KMT2D):c.15079C>T (p.Arg5027Ter)
|
rs797045659
|
|
NM_003482.4(KMT2D):c.15596_15597delinsGC (p.Phe5199Cys)
|
|
|
NM_003482.4(KMT2D):c.15989C>G (p.Pro5330Arg)
|
rs1942485576
|
|
NM_003482.4(KMT2D):c.166C>T (p.Gln56Ter)
|
rs1592162790
|
|
NM_003482.4(KMT2D):c.7933C>T (p.Arg2645Ter)
|
rs1555191740
|
|
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser)
|
rs878853160
|
|
NM_003722.5(TP63):c.1685T>C (p.Leu562Pro)
|
rs774221257
|
|
NM_003722.5(TP63):c.739C>T (p.His247Tyr)
|
rs1553856553
|
|
NM_003812.4(ADAM23):c.2268del (p.Cys757fs)
|
rs2105852296
|
|
NM_003870.4(IQGAP1):c.3493A>G (p.Lys1165Glu)
|
rs886039901
|
|
NM_003884.5(KAT2B):c.1754del (p.Tyr585fs)
|
rs1553598537
|
|
NM_003898.4(SYNJ2):c.2557T>C (p.Ser853Pro)
|
rs869312665
|
|
NM_003924.4(PHOX2B):c.440A>G (p.Gln147Arg)
|
rs2153112821
|
|
NM_003924.4(PHOX2B):c.741_758dup (p.Ala255_Ala260dup)
|
rs771383153
|
|
NM_003924.4(PHOX2B):c.765_779dup (p.Ala256_Ala260dup)
|
rs761018157
|
|
NM_003985.6(TNK1):c.393C>G (p.His131Gln)
|
rs767381816
|
|
NM_004004.6(GJB2):c.313_326del (p.Lys105fs)
|
rs111033253
|
|
NM_004104.5(FASN):c.1249_1250dup (p.Ala418fs)
|
|
|
NM_004113.6(FGF12):c.155G>A (p.Arg52His)
|
rs886039903
|
|
NM_004187.5(KDM5C):c.3597_3601del (p.Leu1200fs)
|
rs1131692227
|
|
NM_004247.4(EFTUD2):c.2335C>T (p.Leu779Phe)
|
rs1597789186
|
|
NM_004274.5(AKAP6):c.2305C>T (p.Gln769Ter)
|
rs1213602989
|
|
NM_004333.6(BRAF):c.1722C>G (p.His574Gln)
|
rs397507481
|
|
NM_004380.3(CREBBP):c.3779+1G>A
|
rs587783483
|
|
NM_004380.3(CREBBP):c.5237G>T (p.Gly1746Val)
|
rs869312714
|
|
NM_004380.3(CREBBP):c.5344G>A (p.Ala1782Thr)
|
rs1567263529
|
|
NM_004380.3(CREBBP):c.6043dup (p.Ser2015fs)
|
rs2151306514
|
|
NM_004380.3(CREBBP):c.6324C>A (p.Tyr2108Ter)
|
rs199821421
|
|
NM_004380.3(CREBBP):c.85+1G>A
|
rs1597099388
|
|
NM_004387.4(NKX2-5):c.439del (p.Gln147fs)
|
rs1761360431
|
|
NM_004408.4(DNM1):c.139G>A (p.Val47Met)
|
rs869312702
|
|
NM_004429.5(EFNB1):c.24G>A (p.Trp8Ter)
|
rs2080439314
|
|
NM_004519.4(KCNQ3):c.688C>T (p.Arg230Cys)
|
rs796052676
|
|
NM_004525.3(LRP2):c.4181G>A (p.Cys1394Tyr)
|
rs767869932
|
|
NM_004530.6(MMP2):c.377A>G (p.Tyr126Cys)
|
rs1596807866
|
|
NM_004540.5(NCAM2):c.365C>T (p.Ser122Phe)
|
|
|
NM_004586.3(RPS6KA3):c.1460A>T (p.Lys487Met)
|
rs2148650076
|
|
NM_004595.5(SMS):c.329G>A (p.Arg110Gln)
|
rs2147513193
|
|
NM_004606.5(TAF1):c.2498_2500del (p.Lys833_Ala834delinsThr)
|
rs2148336854
|
|
NM_004614.5(TK2):c.129_132del (p.Lys43fs)
|
rs281865500
|
|
NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup)
|
rs193922941
|
|
NM_004646.4(NPHS1):c.2758T>G (p.Cys920Gly)
|
|
|
NM_004646.4(NPHS1):c.3250del (p.Val1084fs)
|
rs386833935
|
|
NM_004850.5(ROCK2):c.2140C>T (p.Arg714Ter)
|
rs869312716
|
|
NM_004958.4(MTOR):c.4606A>G (p.Ile1536Val)
|
rs886041096
|
|
NM_004958.4(MTOR):c.4785G>A (p.Met1595Ile)
|
rs869312671
|
|
NM_004958.4(MTOR):c.505-2A>G
|
rs869312706
|
|
NM_004958.4(MTOR):c.5663T>G (p.Phe1888Cys)
|
rs869312666
|
|
NM_004958.4(MTOR):c.6981G>A (p.Met2327Ile)
|
rs878855328
|
|
NM_004972.4(JAK2):c.1694G>C (p.Arg565Thr)
|
rs2130546358
|
|
NM_004972.4(JAK2):c.1822C>G (p.His608Asp)
|
|
|
NM_004975.4(KCNB1):c.986A>G (p.Asn329Ser)
|
rs1984257387
|
|
NM_004985.5(KRAS):c.65A>G (p.Gln22Arg)
|
rs727503110
|
|
NM_005022.4(PFN1):c.280G>T (p.Gly94Cys)
|
|
|
NM_005026.5(PIK3CD):c.2997G>A (p.Lys999=)
|
rs1463951620
|
|
NM_005061.3(RPL3L):c.1076_1080del (p.Ala359fs)
|
rs2150860676
|
|
NM_005085.4(NUP214):c.1412C>T (p.Ser471Phe)
|
rs776701369
|
|
NM_005120.3(MED12):c.1546C>T (p.Arg516Cys)
|
rs1569481124
|
|
NM_005121.3(MED13):c.4198C>T (p.Arg1400Ter)
|
rs773685207
|
|
NM_005188.4(CBL):c.1096-4_1096-1del
|
rs397517077
|
|
NM_005245.4(FAT1):c.10513A>T (p.Arg3505Trp)
|
|
|
NM_005245.4(FAT1):c.11518G>A (p.Val3840Met)
|
|
|
NM_005246.4(FER):c.2344C>G (p.Pro782Ala)
|
rs1582454977
|
|
NM_005249.5(FOXG1):c.460del (p.Glu154fs)
|
rs398124204
|
|
NM_005249.5(FOXG1):c.553A>T (p.Ser185Cys)
|
rs879255530
|
|
NM_005249.5(FOXG1):c.821G>A (p.Arg274Gln)
|
rs869312700
|
|
NM_005257.6(GATA6):c.1367G>A (p.Arg456His)
|
rs387906819
|
|
NM_005257.6(GATA6):c.706G>T (p.Gly236Cys)
|
rs904551659
|
|
NM_005269.3(GLI1):c.985A>T (p.Lys329Ter)
|
rs1871565914
|
|
NM_005333.5(HCCS):c.736C>T (p.Arg246Cys)
|
rs2147254071
|
|
NM_005334.3(HCFC1):c.5048C>G (p.Pro1683Arg)
|
rs869312686
|
|
NM_005334.3(HCFC1):c.6069G>T (p.Met2023Ile)
|
rs2148553327
|
|
NM_005378.6(MYCN):c.367del (p.Arg123fs)
|
|
|
NM_005402.4(RALA):c.526C>T (p.Arg176Ter)
|
rs1204820978
|
|
NM_005402.4(RALA):c.73G>A (p.Val25Met)
|
rs1554297905
|
|
NM_005406.3(ROCK1):c.877_878insT (p.His293fs)
|
|
|
NM_005428.4(VAV1):c.909del (p.Asp303fs)
|
|
|
NM_005444.3(CNOT9):c.874C>T (p.Arg292Trp)
|
|
|
NM_005445.4(SMC3):c.283G>A (p.Glu95Lys)
|
rs869312672
|
|
NM_005450.6(NOG):c.64dup (p.Ala22fs)
|
rs1597919829
|
|
NM_005629.4(SLC6A8):c.1548C>A (p.Cys516Ter)
|
|
|
NM_005639.3(SYT1):c.1103T>C (p.Ile368Thr)
|
rs1135402761
|
|
NM_005816.5(CD96):c.934del (p.Asp312fs)
|
rs1937457440
|
|
NM_005859.5(PURA):c.503T>C (p.Leu168Pro)
|
rs1581036449
|
|
NM_005859.5(PURA):c.677_678del (p.Val226fs)
|
rs1064796830
|
|
NM_005859.5(PURA):c.710C>T (p.Ser237Phe)
|
rs886039899
|
|
NM_005898.5(CAPRIN1):c.274C>T (p.Gln92Ter)
|
|
|
NM_005912.3(MC4R):c.812G>A (p.Cys271Tyr)
|
rs121913562
|
|
NM_005938.4(FOXO4):c.449G>A (p.Trp150Ter)
|
|
|
NM_005984.5(SLC25A1):c.821+1G>A
|
rs781974501
|
|
NM_005993.5(TBCD):c.2077C>A (p.Pro693Thr)
|
|
|
NM_005993.5(TBCD):c.2472-2A>G
|
|
|
NM_005993.5(TBCD):c.3212T>G (p.Leu1071Trp)
|
rs2062710977
|
|
NM_006015.6(ARID1A):c.750_771dup (p.Ser258fs)
|
rs1557570794
|
|
NM_006035.4(CDC42BPB):c.3615G>A (p.Trp1205Ter)
|
rs1346688931
|
|
NM_006099.3(PIAS3):c.499C>T (p.Gln167Ter)
|
rs1570778920
|
|
NM_006180.6(NTRK2):c.1301A>G (p.Tyr434Cys)
|
rs886041091
|
|
NM_006218.4(PIK3CA):c.320A>G (p.Asn107Ser)
|
rs2108386309
|
|
NM_006225.4(PLCD1):c.631C>T (p.Arg211Trp)
|
rs752156828
|
|
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
|
|
|
NM_006289.4(TLN1):c.2176dup (p.Thr726fs)
|
|
|
NM_006306.4(SMC1A):c.3290T>A (p.Phe1097Tyr)
|
rs1131692271
|
|
NM_006306.4(SMC1A):c.3592G>A (p.Glu1198Lys)
|
rs782175064
|
|
NM_006329.4(FBLN5):c.1117C>T (p.Arg373Cys)
|
rs864309526
|
|
NM_006421.5(ARFGEF1):c.4257T>G (p.Tyr1419Ter)
|
|
|
NM_006494.4(ERF):c.517_521dup (p.Ala175fs)
|
rs2146950390
|
|
NM_006516.4(SLC2A1):c.517-1G>C
|
rs869312673
|
|
NM_006516.4(SLC2A1):c.574_575del (p.Ile192fs)
|
rs878853161
|
|
NM_006516.4(SLC2A1):c.938C>T (p.Ser313Phe)
|
rs794727870
|
|
NM_006516.4(SLC2A1):c.998G>A (p.Arg333Gln)
|
rs1553155986
|
|
NM_006593.4(TBR1):c.1588_1594dup (p.Thr532fs)
|
rs869312704
|
|
NM_006618.5(KDM5B):c.2188_2189insC (p.Tyr730fs)
|
rs1558488609
|
|
NM_006618.5(KDM5B):c.3727C>T (p.Arg1243Ter)
|
rs869312703
|
|
NM_006659.4(TUBGCP2):c.150+5G>A
|
|
|
NM_006659.4(TUBGCP2):c.1552C>T (p.Arg518Cys)
|
|
|
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter)
|
rs199469464
|
|
NM_006757.4(TNNT3):c.187C>A (p.Arg63Ser)
|
rs199474721
|
|
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)
|
rs869320686
|
|
NM_006767.4(LZTR1):c.993+2T>C
|
|
|
NM_006772.3(SYNGAP1):c.3583-6G>A
|
rs869312674
|
|
NM_006772.3(SYNGAP1):c.3788_3794del (p.Ile1263fs)
|
rs869312677
|
|
NM_006852.6(TLK2):c.968+1G>A
|
rs1598620094
|
|
NM_006908.5(RAC1):c.506T>G (p.Phe169Cys)
|
rs1176320808
|
|
NM_006912.6(RIT1):c.67A>C (p.Lys23Gln)
|
rs869312687
|
|
NM_006914.4(RORB):c.8-1G>A
|
rs1587393982
|
|
NM_006922.4(SCN3A):c.655A>G (p.Arg219Gly)
|
|
|
NM_006940.6(SOX5):c.1856A>G (p.Lys619Arg)
|
rs1341736288
|
|
NM_006940.6(SOX5):c.622C>T (p.Gln208Ter)
|
rs1555307370
|
|
NM_006941.4(SOX10):c.481C>T (p.Arg161Cys)
|
rs2145768544
|
|
NM_007118.4(TRIO):c.2957G>A (p.Arg986Gln)
|
|
|
NM_007118.4(TRIO):c.6092del (p.Phe2030_Leu2031insTer)
|
rs752676391
|
|
NM_007118.4(TRIO):c.634G>T (p.Glu212Ter)
|
rs1057516029
|
|
NM_007255.3(B4GALT7):c.640-12T>A
|
|
|
NM_007279.3(U2AF2):c.1256G>A (p.Arg419Gln)
|
rs1984754253
|
|
NM_007279.3(U2AF2):c.791G>A (p.Gly264Glu)
|
rs1984686433
|
|
NM_007289.4(MME):c.1272del (p.Arg425fs)
|
rs1060499935
|
|
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr)
|
rs55851803
|
|
NM_007294.4(BRCA1):c.2679_2682del (p.Lys893fs)
|
rs80357596
|
|
NM_007294.4(BRCA1):c.2722G>T (p.Glu908Ter)
|
rs80356978
|
|
NM_007294.4(BRCA1):c.3718C>T (p.Gln1240Ter)
|
rs80356903
|
|
NM_007294.4(BRCA1):c.3756_3759del (p.Ser1253fs)
|
rs80357868
|
|
NM_007294.4(BRCA1):c.4035del (p.Glu1346fs)
|
rs80357711
|
|
NM_007294.4(BRCA1):c.5095C>T (p.Arg1699Trp)
|
rs55770810
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_007294.4(BRCA1):c.5277+1del
|
rs273901754
|
|
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)
|
rs80357914
|
|
NM_007327.4(GRIN1):c.1922T>C (p.Met641Thr)
|
rs1588732344
|
|
NM_007332.3(TRPA1):c.2194C>G (p.Pro732Ala)
|
rs1585851954
|
|
NM_007363.5(NONO):c.1131G>A (p.Ala377=)
|
rs869025343
|
|
NM_012156.2(EPB41L1):c.1807C>T (p.Arg603Cys)
|
|
|
NM_012199.5(AGO1):c.1123GAG[1] (p.Glu376del)
|
rs2148715376
|
|
NM_012199.5(AGO1):c.2342C>T (p.Thr781Met)
|
rs2148725999
|
|
NM_012216.4(MID2):c.448G>T (p.Ala150Ser)
|
rs375785745
|
|
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup)
|
rs1591495767
|
|
NM_012309.5(SHANK2):c.1896dup (p.Asp633fs)
|
rs1555013332
|
|
NM_012310.5(KIF4A):c.1015A>G (p.Lys339Glu)
|
rs2147691521
|
|
NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs)
|
rs199470477
|
|
NM_012433.4(SF3B1):c.415+2T>G
|
rs2085221774
|
|
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter)
|
rs886041791
|
|
NM_013275.6(ANKRD11):c.2398_2401del (p.Glu800fs)
|
rs797045027
|
|
NM_013275.6(ANKRD11):c.2408_2412del (p.Lys803fs)
|
rs886039902
|
|
NM_013275.6(ANKRD11):c.4055_4058del (p.His1352fs)
|
rs2151751963
|
|
NM_013275.6(ANKRD11):c.448A>G (p.Thr150Ala)
|
|
|
NM_013275.6(ANKRD11):c.6472G>T (p.Glu2158Ter)
|
rs869312713
|
|
NM_013275.6(ANKRD11):c.6792del (p.Ala2265fs)
|
rs878855327
|
|
NM_013275.6(ANKRD11):c.7062dup (p.Ser2355fs)
|
rs886041942
|
|
NM_013275.6(ANKRD11):c.7404_7427del (p.Glu2468_Tyr2476delinsAsp)
|
rs2151729090
|
|
NM_013296.5(GPSM2):c.742del (p.Gly249fs)
|
rs528069912
|
|
NM_013450.4(BAZ2B):c.242C>G (p.Ser81Ter)
|
rs767318278
|
|
NM_014208.3(DSPP):c.139G>A (p.Glu47Lys)
|
|
|
NM_014225.6(PPP2R1A):c.547C>T (p.Arg183Trp)
|
rs1057519946
|
|
NM_014225.6(PPP2R1A):c.656C>T (p.Ser219Leu)
|
rs1555791268
|
|
NM_014423.4(AFF4):c.879del (p.His294fs)
|
|
|
NM_014425.5(INVS):c.2949dup (p.Lys984fs)
|
rs1588153872
|
|
NM_014458.4(KLHL20):c.1100T>C (p.Leu367Ser)
|
|
|
NM_014491.4(FOXP2):c.1719G>A (p.Trp573Ter)
|
|
|
NM_014608.6(CYFIP1):c.1348G>T (p.Ala450Ser)
|
|
|
NM_014608.6(CYFIP1):c.1798T>C (p.Phe600Leu)
|
|
|
NM_014619.5(GRIK4):c.2713_2727delinsGCT (p.Leu905_Glu908del)
|
rs869312699
|
|
NM_014633.5(CTR9):c.1126G>A (p.Glu376Lys)
|
rs869312709
|
|
NM_014639.4(SKIC3):c.2494G>T (p.Gly832Cys)
|
rs1347862457
|
|
NM_014639.4(SKIC3):c.3272del (p.Ile1090_Leu1091insTer)
|
rs752052886
|
|
NM_014681.6(DHX34):c.3160-23_3169del
|
|
|
NM_014681.6(DHX34):c.3260A>G (p.Glu1087Gly)
|
|
|
NM_014687.4(RUBCN):c.1464C>A (p.Asp488Glu)
|
|
|
NM_014762.4(DHCR24):c.1241_1242insAGTCC (p.Phe415fs)
|
rs1570178668
|
|
NM_014762.4(DHCR24):c.1480C>T (p.Arg494Ter)
|
rs563822834
|
|
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter)
|
rs137852981
|
|
NM_014795.4(ZEB2):c.2672_2678del (p.Ala891fs)
|
rs878855329
|
|
NM_014795.4(ZEB2):c.3164A>G (p.Tyr1055Cys)
|
rs1135402759
|
|
NM_014801.4(PCNX2):c.4125_4126del (p.Asp1377fs)
|
rs797046137
|
|
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser)
|
rs28940292
|
|
NM_014974.3(DIP2C):c.4045-2A>G
|
rs2132167956
|
|
NM_014975.3(MAST1):c.210dup (p.Asn71fs)
|
rs1380941808
|
|
NM_014975.3(MAST1):c.278C>T (p.Ser93Leu)
|
rs878853165
|
|
NM_014991.6(WDFY3):c.8467C>T (p.Arg2823Trp)
|
rs1131692269
|
|
NM_014991.6(WDFY3):c.8864_8867dup (p.Phe2957fs)
|
rs878853167
|
|
NM_015021.3(ZNF292):c.7870C>G (p.His2624Asp)
|
rs551397183
|
|
NM_015045.5(WAPL):c.2020C>T (p.Arg674Cys)
|
|
|
NM_015089.4(CUL9):c.2732C>T (p.Pro911Leu)
|
|
|
NM_015089.4(CUL9):c.7237C>T (p.Arg2413Trp)
|
|
|
NM_015100.4(POGZ):c.1748A>G (p.His583Arg)
|
rs1131692270
|
|
NM_015100.4(POGZ):c.2700_2710del (p.Leu901fs)
|
rs2102150015
|
|
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs)
|
rs869320764
|
|
NM_015176.4(FBXO28):c.1016_1017delinsT (p.Gly339fs)
|
|
|
NM_015215.4(CAMTA1):c.3356C>T (p.Ala1119Val)
|
rs1577305812
|
|
NM_015295.3(SMCHD1):c.511T>G (p.Phe171Val)
|
rs1135402740
|
|
NM_015330.6(SPECC1L):c.2473del (p.Met825fs)
|
rs2146521275
|
|
NM_015335.5(MED13L):c.124dup (p.Asp42fs)
|
rs869312875
|
|
NM_015335.5(MED13L):c.2107C>T (p.Gln703Ter)
|
rs1555247672
|
|
NM_015335.5(MED13L):c.6485C>T (p.Thr2162Met)
|
rs869312707
|
|
NM_015355.4(SUZ12):c.348_351del (p.Tyr117fs)
|
rs1598143986
|
|
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser)
|
rs267607040
|
|
NM_015570.4(AUTS2):c.1486dup (p.Gln496fs)
|
rs869312878
|
|
NM_015695.3(BRPF3):c.1978C>T (p.Leu660Phe)
|
|
|
NM_015874.6(RBPJ):c.155G>C (p.Arg52Thr)
|
|
|
NM_015910.7(WDPCP):c.1780G>A (p.Ala594Thr)
|
rs2103954230
|
|
NM_016032.4(ZDHHC9):c.267del (p.Ser89fs)
|
|
|
NM_016077.5(PTRH2):c.535dup (p.Tyr179fs)
|
|
|
NM_016148.5(SHANK1):c.2149C>T (p.Arg717Ter)
|
rs2123136215
|
|
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg)
|
rs1131692228
|
|
NM_016284.5(CNOT1):c.6344A>G (p.Tyr2115Cys)
|
rs1597399182
|
|
NM_016428.3(ABI3):c.290T>A (p.Val97Glu)
|
rs202087269
|
|
NM_016592.5(GNAS):c.7C>T (p.Arg3Trp)
|
rs202131370
|
|
NM_016604.4(KDM3B):c.2753G>A (p.Arg918His)
|
|
|
NM_016642.4(SPTBN5):c.1288C>T (p.Arg430Cys)
|
|
|
NM_016642.4(SPTBN5):c.8419G>A (p.Glu2807Lys)
|
|
|
NM_016734.3(PAX5):c.1013-1G>A
|
rs1554646594
|
|
NM_017552.4(ATAD2B):c.1404dup (p.Met469fs)
|
|
|
NM_017565.4(FAM20A):c.111_145del (p.Glu39fs)
|
rs2143965549
|
|
NM_017629.4(AGO4):c.241C>T (p.Gln81Ter)
|
rs1387295670
|
|
NM_017635.5(KMT5B):c.2497G>T (p.Glu833Ter)
|
rs878853164
|
|
NM_017654.4(SAMD9):c.2945G>A (p.Arg982His)
|
rs1554336974
|
|
NM_017775.4(TTC19):c.424-3C>G
|
rs1283394462
|
|
NM_017780.4(CHD7):c.2096G>A (p.Ser699Asn)
|
rs1563595388
|
|
NM_017780.4(CHD7):c.2642dup (p.Tyr881Ter)
|
rs797045465
|
|
NM_017780.4(CHD7):c.2919_2922GGAG[1] (p.Glu974_Gly975insTer)
|
rs1586390136
|
|
NM_017780.4(CHD7):c.3301T>C (p.Cys1101Arg)
|
rs1586393556
|
|
NM_017780.4(CHD7):c.3372_3373delinsAT (p.Met1124_Asp1125delinsIleTyr)
|
rs1804159058
|
|
NM_017780.4(CHD7):c.4185+1G>A
|
rs1586418093
|
|
NM_017780.4(CHD7):c.4393C>T (p.Arg1465Ter)
|
rs886040991
|
|
NM_017780.4(CHD7):c.6850C>T (p.Arg2284Ter)
|
rs587783454
|
|
NM_017780.4(CHD7):c.6955C>T (p.Arg2319Cys)
|
rs121434341
|
|
NM_017780.4(CHD7):c.7344_7345del (p.Glu2450fs)
|
rs1586453267
|
|
NM_017780.4(CHD7):c.7803C>G (p.Tyr2601Ter)
|
rs1563669432
|
|
NM_017780.4(CHD7):c.8049del (p.Asp2684fs)
|
rs1586463029
|
|
NM_017799.4(TMEM260):c.1869+1G>T
|
rs141599092
|
|
NM_017799.4(TMEM260):c.2082_2086AAGAA[1] (p.Lys696fs)
|
rs568247949
|
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
|
NM_018359.5(UFSP2):c.1012G>A (p.Gly338Arg)
|
|
|
NM_018486.3(HDAC8):c.490C>T (p.Arg164Ter)
|
rs397515415
|
|
NM_018486.3(HDAC8):c.737+1G>A
|
rs869312660
|
|
NM_018489.3(ASH1L):c.1907C>G (p.Ser636Ter)
|
rs1198775988
|
|
NM_018489.3(ASH1L):c.7421+6T>C
|
|
|
NM_018684.4(ZC4H2):c.412C>T (p.Gln138Ter)
|
rs1602379828
|
|
NM_019045.5(WDR44):c.1085T>C (p.Leu362Pro)
|
rs1602920820
|
|
NM_019066.5(MAGEL2):c.1262C>G (p.Pro421Arg)
|
rs2140716697
|
|
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter)
|
rs797044883
|
|
NM_019066.5(MAGEL2):c.2958del (p.Ser987fs)
|
rs1060499934
|
|
NM_019066.5(MAGEL2):c.3131C>A (p.Ser1044Ter)
|
rs1267004913
|
|
NM_019066.5(MAGEL2):c.3208G>T (p.Glu1070Ter)
|
rs869312694
|
|
NM_019074.4(DLL4):c.1857_1864del (p.Pro621fs)
|
rs1892853569
|
|
NM_019112.3(ABCA7):c.2126_2132del (p.Glu709fs)
|
rs547447016
|
|
NM_020338.4(ZMIZ1):c.272A>G (p.Lys91Arg)
|
rs1554817910
|
|
NM_020338.4(ZMIZ1):c.2758dup (p.Gln920fs)
|
rs777843533
|
|
NM_020436.5(SALL4):c.1849C>T (p.Arg617Ter)
|
rs74315427
|
|
NM_020549.5(CHAT):c.506T>C (p.Phe169Ser)
|
rs776499844
|
|
NM_020706.2(SCAF4):c.159G>T (p.Lys53Asn)
|
rs763344051
|
|
NM_020719.3(PRR12):c.922_923del (p.His308fs)
|
|
|
NM_020738.4(KIDINS220):c.5079_5080del (p.Asn1693fs)
|
rs1131692229
|
|
NM_020821.3(VPS13C):c.1988del (p.Thr663fs)
|
rs1019238429
|
|
NM_020822.3(KCNT1):c.136C>T (p.Leu46Phe)
|
rs869312682
|
|
NM_020922.5(WNK3):c.4000dup (p.Arg1334fs)
|
|
|
NM_020975.6(RET):c.1947G>A (p.Ser649=)
|
rs377767412
|
|
NM_020988.3(GNAO1):c.604G>A (p.Val202Ile)
|
rs1297388989
|
|
NM_020988.3(GNAO1):c.973T>G (p.Cys325Gly)
|
rs2037954227
|
|
NM_021008.4(DEAF1):c.634G>A (p.Gly212Ser)
|
rs1057519565
|
|
NM_021035.3(ZNFX1):c.4880G>A (p.Arg1627His)
|
|
|
NM_021035.3(ZNFX1):c.872C>T (p.Thr291Met)
|
|
|
NM_021224.6(ZNF462):c.5680T>G (p.Cys1894Gly)
|
rs869312691
|
|
NM_022089.4(ATP13A2):c.1298_1299del (p.Ser433fs)
|
|
|
NM_022101.4(STEEP1):c.229_230del (p.Met77fs)
|
|
|
NM_022113.6(KIF13A):c.3364A>G (p.Lys1122Glu)
|
|
|
NM_022167.4(XYLT2):c.1584del (p.Gly529fs)
|
|
|
NM_022168.4(IFIH1):c.1178A>T (p.Asp393Val)
|
rs587777449
|
|
NM_022168.4(IFIH1):c.2933_2935dup (p.Asp978_Leu979insTyr)
|
|
|
NM_022552.5(DNMT3A):c.895A>C (p.Lys299Gln)
|
rs766858016
|
|
NM_022786.3(ARV1):c.101G>A (p.Cys34Tyr)
|
rs778567340
|
|
NM_022786.3(ARV1):c.518dup (p.Pro174fs)
|
rs544784472
|
|
NM_022893.4(BCL11A):c.1847del (p.Gly616fs)
|
rs1382819519
|
|
NM_023110.3(FGFR1):c.755C>G (p.Pro252Arg)
|
rs121909627
|
|
NM_024334.3(TMEM43):c.965G>T (p.Gly322Val)
|
rs1553603462
|
|
NM_024408.4(NOTCH2):c.6853C>T (p.Gln2285Ter)
|
rs1553193507
|
|
NM_024408.4(NOTCH2):c.6909del (p.Ile2304fs)
|
rs771237928
|
|
NM_024408.4(NOTCH2):c.853C>T (p.Arg285Cys)
|
rs142614610
|
|
NM_024513.4(FYCO1):c.3327_3328del (p.Cys1110fs)
|
rs747093432
|
|
NM_024657.5(MORC4):c.676A>G (p.Asn226Asp)
|
|
|
NM_024665.7(TBL1XR1):c.1337A>G (p.Tyr446Cys)
|
rs878854402
|
|
NM_024665.7(TBL1XR1):c.809T>G (p.Phe270Cys)
|
|
|
NM_024702.3(ZNF750):c.39_49del (p.His13fs)
|
|
|
NM_024757.5(EHMT1):c.1502-2A>G
|
rs2136355927
|
|
NM_024757.5(EHMT1):c.3310G>A (p.Glu1104Lys)
|
rs886041093
|
|
NM_024757.5(EHMT1):c.673C>T (p.Arg225Ter)
|
rs879255531
|
|
NM_024757.5(EHMT1):c.871C>T (p.Arg291Ter)
|
rs137852714
|
|
NM_024870.4(PREX2):c.1579C>A (p.Arg527Ser)
|
rs199776134
|
|
NM_025137.4(SPG11):c.276_285del (p.Arg93fs)
|
rs747220413
|
|
NM_030624.3(KLHL15):c.391G>A (p.Glu131Lys)
|
rs1602008532
|
|
NM_030632.3(ASXL3):c.1682C>A (p.Ser561Ter)
|
rs869312696
|
|
NM_030632.3(ASXL3):c.6640T>C (p.Ser2214Pro)
|
rs878853168
|
|
NM_030912.3(TRIM8):c.553C>T (p.Arg185Ter)
|
|
|
NM_031263.4(HNRNPK):c.1123G>T (p.Gly375Trp)
|
rs1588412390
|
|
NM_031263.4(HNRNPK):c.364C>T (p.Gln122Ter)
|
rs2133042086
|
|
NM_031263.4(HNRNPK):c.646-1G>A
|
rs1564062144
|
|
NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys)
|
rs1556914274
|
|
NM_031407.7(HUWE1):c.8974C>G (p.Arg2992Gly)
|
rs1401359685
|
|
NM_031443.4(CCM2):c.93A>C (p.Lys31Asn)
|
|
|
NM_031844.3(HNRNPU):c.651_660dup (p.Gly221fs)
|
rs779453109
|
|
NM_031844.3(HNRNPU):c.67C>T (p.Arg23Ter)
|
rs869312701
|
|
NM_031844.3(HNRNPU):c.914G>A (p.Arg305His)
|
rs756460435
|
|
NM_032217.5(ANKRD17):c.2623G>T (p.Glu875Ter)
|
rs1578168407
|
|
NM_032217.5(ANKRD17):c.3271del (p.Cys1091fs)
|
rs2148721126
|
|
NM_032271.3(TRAF7):c.1510G>C (p.Asp504His)
|
rs1596680065
|
|
NM_032538.3(TTBK1):c.367C>T (p.Arg123Ter)
|
|
|
NM_032634.4(PIGO):c.1352T>G (p.Met451Arg)
|
rs1057518632
|
|
NM_032634.4(PIGO):c.1392delinsGA (p.Ile464fs)
|
rs1587167234
|
|
NM_032776.3(JMJD1C):c.6410A>T (p.Glu2137Val)
|
rs369068631
|
|
NM_033225.6(CSMD1):c.1642A>G (p.Thr548Ala)
|
rs768680532
|
|
NM_033310.3(KCNK4):c.698C>T (p.Pro233Leu)
|
rs2034823903
|
|
NM_052867.4(NALCN):c.1675G>C (p.Val559Leu)
|
rs758646676
|
|
NM_052876.4(NACC1):c.1406G>A (p.Arg469His)
|
rs2145626422
|
|
NM_057175.4(NAA15):c.228_232del (p.Asp76Glufs)
|
rs1380822792
|
|
NM_057175.5(NAA15):c.1418_1421dup (p.Ala475fs)
|
|
|
NM_057175.5(NAA15):c.2322C>G (p.Tyr774Ter)
|
rs886041097
|
|
NM_078474.3(TM2D3):c.206C>T (p.Pro69Leu)
|
rs140152371
|
|
NM_078480.3(PUF60):c.1309C>T (p.Gln437Ter)
|
rs1554642022
|
|
NM_078480.3(PUF60):c.449_457del (p.Ala150_Phe152del)
|
rs1131692232
|
|
NM_080473.5(GATA5):c.755C>A (p.Thr252Lys)
|
rs143901995
|
|
NM_080680.3(COL11A2):c.1129_1130dup (p.Pro378fs)
|
|
|
NM_130466.4(UBE3B):c.2172dup (p.Ile725fs)
|
rs765785230
|
|
NM_130466.4(UBE3B):c.351T>G (p.Tyr117Ter)
|
rs1592882265
|
|
NM_133433.4(NIPBL):c.6705_6707del (p.Lys2235del)
|
rs797045778
|
|
NM_133448.3(TMEM132D):c.3247G>A (p.Gly1083Arg)
|
rs1593250509
|
|
NM_134261.3(RORA):c.821-1G>C
|
rs2141286878
|
|
NM_138615.3(DHX30):c.2353C>T (p.Arg785Cys)
|
rs1085307451
|
|
NM_138694.4(PKHD1):c.11452G>T (p.Val3818Phe)
|
rs1385935333
|
|
NM_139058.3(ARX):c.1002_1007delinsTGTACCA (p.Phe335fs)
|
rs869312662
|
|
NM_139058.3(ARX):c.1489G>C (p.Ala497Pro)
|
rs1556046847
|
|
NM_139321.3(ATRN):c.396C>G (p.Cys132Trp)
|
|
|
NM_144666.3(DNHD1):c.9623G>T (p.Arg3208Met)
|
rs1589895209
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_145331.3(MAP3K7):c.143G>A (p.Gly48Glu)
|
rs1776911945
|
|
NM_145331.3(MAP3K7):c.248G>A (p.Arg83His)
|
rs929527043
|
|
NM_145690.3(YWHAZ):c.689C>G (p.Ser230Trp)
|
rs1554612377
|
|
NM_152221.3(CSNK1E):c.287G>T (p.Cys96Phe)
|
rs2092680707
|
|
NM_152221.3(CSNK1E):c.532C>T (p.Arg178Cys)
|
|
|
NM_152263.4(TPM3):c.329C>T (p.Ala110Val)
|
rs1558052023
|
|
NM_152393.4(KLHL40):c.1608-1G>A
|
rs2125846068
|
|
NM_152641.4(ARID2):c.109dup (p.Ile37fs)
|
rs2137959601
|
|
NM_152641.4(ARID2):c.1708del (p.Cys570fs)
|
rs879255529
|
|
NM_153717.3(EVC):c.393del (p.Asp132fs)
|
rs1437174284
|
|
NM_153816.6(SNX14):c.1707_1708insTTTTTTTTTTT (p.Pro570fs)
|
rs1057519561
|
|
NM_153827.5(MINK1):c.3206T>G (p.Leu1069Arg)
|
rs1371779157
|
|
NM_170606.3(KMT2C):c.7613dup (p.Gln2539fs)
|
rs1554496813
|
|
NM_172107.4(KCNQ2):c.1148+2T>A
|
|
|
NM_172107.4(KCNQ2):c.629G>C (p.Arg210Pro)
|
rs886041262
|
|
NM_172107.4(KCNQ2):c.821C>T (p.Thr274Met)
|
rs727503974
|
|
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del)
|
rs118192212
|
|
NM_172230.3(SYVN1):c.38C>T (p.Ala13Val)
|
|
|
NM_172230.3(SYVN1):c.68A>G (p.Tyr23Cys)
|
|
|
NM_173495.3(PTCHD1):c.1434C>G (p.Tyr478Ter)
|
rs751692491
|
|
NM_173814.6(PRTG):c.1622C>G (p.Pro541Arg)
|
rs2141798346
|
|
NM_175854.8(PAN3):c.85del (p.Ala29fs)
|
rs2137882227
|
|
NM_175914.5(HNF4A):c.2T>C (p.Met1Thr)
|
rs1229650809
|
|
NM_176787.5(PIGN):c.1557G>A (p.Trp519Ter)
|
rs560010455
|
|
NM_176869.3(PPA2):c.938C>A (p.Ser313Ter)
|
rs151331559
|
|
NM_178012.5(TUBB2B):c.1162A>C (p.Met388Leu)
|
rs2113818913
|
|
NM_178012.5(TUBB2B):c.43C>A (p.Gln15Lys)
|
rs1085307566
|
|
NM_178014.4(TUBB):c.299A>G (p.Asn100Ser)
|
rs2127749060
|
|
NM_178014.4(TUBB):c.662C>T (p.Thr221Ile)
|
rs878853162
|
|
NM_181349.3(SMURF1):c.721G>A (p.Glu241Lys)
|
rs1795770782
|
|
NM_181486.4(TBX5):c.835C>T (p.Arg279Ter)
|
rs863223788
|
|
NM_182641.4(BPTF):c.1628G>A (p.Gly543Asp)
|
rs1420785504
|
|
NM_182641.4(BPTF):c.255del (p.Ser86fs)
|
rs1598050118
|
|
NM_182641.4(BPTF):c.2832_2843del (p.941_944NMDE[1])
|
rs749412697
|
|
NM_183065.4(TMEM107):c.*745C>G
|
rs746503581
|
|
NM_183381.3(RNF13):c.875C>G (p.Ser292Ter)
|
rs1722332295
|
|
NM_194449.4(PHLPP1):c.2302del (p.Ser768fs)
|
|
|
NM_194454.3(KRIT1):c.1574del (p.Pro525fs)
|
rs1584807148
|
|
NM_194463.2(RNF128):c.917C>G (p.Pro306Arg)
|
rs2147704423
|
|
NM_197968.4(ZMYM2):c.1193A>G (p.Gln398Arg)
|
rs1594305253
|
|
NM_197968.4(ZMYM2):c.1765C>T (p.Arg589Ter)
|
rs1952668177
|
|
NM_198282.4(STING1):c.842G>A (p.Arg281Gln)
|
rs1561482476
|
|
NM_199141.2(CARM1):c.362A>T (p.Tyr121Phe)
|
rs769691938
|
|
NM_201378.4(PLEC):c.66C>G (p.Tyr22Ter)
|
rs2132991341
|
|
NM_201384.3(PLEC):c.8149C>T (p.Gln2717Ter)
|
rs1554686620
|
|
NM_205768.3(ZBTB18):c.1493A>C (p.His498Pro)
|
rs1553270640
|
|
NM_205768.3(ZBTB18):c.160T>C (p.Cys54Arg)
|
rs869312689
|
|
NM_207346.3(TSEN54):c.503T>G (p.Val168Gly)
|
rs2147009566
|
|
m.3697G>A
|
rs199476122
|
|