NM_000402.4(G6PD):c.466A>G (p.Asn156Asp)
|
rs1050829
|
0.08672
|
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)
|
rs1800562
|
0.03880
|
NM_000402.4(G6PD):c.292G>A (p.Val98Met)
|
rs1050828
|
0.03616
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)
|
rs17580
|
0.02950
|
NM_000130.4(F5):c.1601G>A (p.Arg534Gln)
|
rs6025
|
0.01762
|
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile)
|
rs121908120
|
0.01450
|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)
|
rs28929474
|
0.01282
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_000110.4(DPYD):c.1905+1G>A
|
rs3918290
|
0.00474
|
NM_000350.3(ABCA4):c.2588G>C (p.Gly863Ala)
|
rs76157638
|
0.00445
|
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)
|
rs33930165
|
0.00414
|
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu)
|
rs104894313
|
0.00375
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
NM_003119.4(SPG7):c.1529C>T (p.Ala510Val)
|
rs61755320
|
0.00361
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)
|
rs121918166
|
0.00350
|
NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
NM_016038.4(SBDS):c.258+2T>C
|
rs113993993
|
0.00323
|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
NM_016335.6(PRODH):c.1322T>C (p.Leu441Pro)
|
rs2904551
|
0.00282
|
NM_000350.3(ABCA4):c.5882G>A (p.Gly1961Glu)
|
rs1800553
|
0.00269
|
NM_201631.4(TGM5):c.337G>T (p.Gly113Cys)
|
rs112292549
|
0.00252
|
NM_014270.5(SLC7A9):c.544G>A (p.Ala182Thr)
|
rs79389353
|
0.00238
|
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg)
|
rs104893836
|
0.00234
|
NM_000262.3(NAGA):c.973G>A (p.Glu325Lys)
|
rs121434529
|
0.00225
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_000017.4(ACADS):c.529T>C (p.Trp177Arg)
|
rs57443665
|
0.00202
|
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)
|
rs121918007
|
0.00200
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00192
|
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)
|
rs397515360
|
0.00183
|
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)
|
rs137852769
|
0.00182
|
NM_005609.4(PYGM):c.148C>T (p.Arg50Ter)
|
rs116987552
|
0.00181
|
NM_000341.4(SLC3A1):c.1400T>C (p.Met467Thr)
|
rs121912691
|
0.00175
|
NM_016327.3(UPB1):c.917-1G>A
|
rs143493067
|
0.00169
|
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala)
|
rs145588689
|
0.00162
|
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu)
|
rs113994096
|
0.00160
|
NM_002693.3(POLG):c.752C>T (p.Thr251Ile)
|
rs113994094
|
0.00159
|
NM_000431.4(MVK):c.1129G>A (p.Val377Ile)
|
rs28934897
|
0.00156
|
NM_007055.4(POLR3A):c.1909+22G>A
|
rs191875469
|
0.00156
|
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)
|
rs121912616
|
0.00150
|
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)
|
rs104894299
|
0.00149
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe)
|
rs80338902
|
0.00137
|
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)
|
rs74315294
|
0.00134
|
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)
|
rs145138923
|
0.00120
|
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)
|
rs6475
|
0.00117
|
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287
|
0.00117
|
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)
|
rs113994167
|
0.00116
|
NM_002491.3(NDUFB3):c.64T>C (p.Trp22Arg)
|
rs142609245
|
0.00116
|
NM_007254.4(PNKP):c.1029+2T>C
|
rs199919568
|
0.00115
|
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)
|
rs104893915
|
0.00106
|
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser)
|
rs141659620
|
0.00103
|
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln)
|
rs76151636
|
0.00100
|
NM_016038.4(SBDS):c.184A>T (p.Lys62Ter)
|
rs120074160
|
0.00099
|
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00096
|
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)
|
rs111033690
|
0.00094
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
|
rs113994152
|
0.00092
|
NM_000518.5(HBB):c.-79A>G
|
rs34598529
|
0.00091
|
NM_017613.4(DONSON):c.82A>C (p.Ser28Arg)
|
rs768071555
|
0.00090
|
NM_025216.3(WNT10A):c.321C>A (p.Cys107Ter)
|
rs121908119
|
0.00087
|
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)
|
rs121965019
|
0.00086
|
NM_002693.3(POLG):c.2243G>C (p.Trp748Ser)
|
rs113994097
|
0.00081
|
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)
|
rs141976414
|
0.00080
|
NM_000158.4(GBE1):c.691+2T>C
|
rs192044702
|
0.00078
|
NM_002225.5(IVD):c.932C>T (p.Ala311Val)
|
rs28940889
|
0.00077
|
NM_000016.6(ACADM):c.199T>C (p.Tyr67His)
|
rs121434280
|
0.00073
|
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)
|
rs11555217
|
0.00072
|
NM_176869.3(PPA2):c.514G>A (p.Glu172Lys)
|
rs146013446
|
0.00070
|
NM_002693.3(POLG):c.1399G>A (p.Ala467Thr)
|
rs113994095
|
0.00068
|
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter)
|
rs80338933
|
0.00067
|
NM_000128.4(F11):c.403G>T (p.Glu135Ter)
|
rs121965063
|
0.00066
|
NM_013339.4(ALG6):c.257+5G>A
|
rs199682486
|
0.00065
|
NM_005340.7(HINT1):c.110G>C (p.Arg37Pro)
|
rs149782619
|
0.00064
|
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)
|
rs145303331
|
0.00062
|
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs)
|
rs749272546
|
0.00062
|
NM_000310.4(PPT1):c.364A>T (p.Arg122Trp)
|
rs137852695
|
0.00061
|
NM_004004.6(GJB2):c.167del (p.Leu56fs)
|
rs80338942
|
0.00058
|
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu)
|
rs201431517
|
0.00058
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met)
|
rs150591260
|
0.00057
|
NM_130837.3(OPA1):c.1311A>G (p.Ile437Met)
|
rs143319805
|
0.00056
|
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys)
|
rs61732144
|
0.00055
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_021971.4(GMPPB):c.79G>C (p.Asp27His)
|
rs142336618
|
0.00054
|
NM_000391.4(TPP1):c.509-1G>C
|
rs56144125
|
0.00053
|
NM_017646.6(TRIT1):c.979C>T (p.Arg327Ter)
|
rs144042123
|
0.00052
|
NM_000016.6(ACADM):c.600-18G>A
|
rs370523609
|
0.00051
|
NM_012144.4(DNAI1):c.48+2dup
|
rs397515363
|
0.00050
|
NM_000277.3(PAH):c.734T>C (p.Val245Ala)
|
rs76212747
|
0.00049
|
NM_014324.6(AMACR):c.154T>C (p.Ser52Pro)
|
rs121917814
|
0.00049
|
NM_001194998.2(CEP152):c.2034T>G (p.Tyr678Ter)
|
rs182018947
|
0.00048
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_000487.6(ARSA):c.465+1G>A
|
rs80338815
|
0.00046
|
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)
|
rs387906309
|
0.00046
|
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)
|
rs28942073
|
0.00046
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
NM_001195248.2(APTX):c.837G>A (p.Trp279Ter)
|
rs104894103
|
0.00044
|
NM_176869.3(PPA2):c.683C>T (p.Pro228Leu)
|
rs138215926
|
0.00044
|
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)
|
rs121907998
|
0.00041
|
NM_014305.4(TGDS):c.298G>T (p.Ala100Ser)
|
rs140430952
|
0.00041
|
NM_000277.3(PAH):c.1315+1G>A
|
rs5030861
|
0.00040
|
NM_000199.5(SGSH):c.734G>A (p.Arg245His)
|
rs104894635
|
0.00039
|
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
|
rs13073139
|
0.00039
|
NM_000197.2(HSD17B3):c.277+4A>T
|
rs201115371
|
0.00038
|
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)
|
rs137852700
|
0.00038
|
NM_014249.4(NR2E3):c.119-2A>C
|
rs2723341
|
0.00038
|
NM_016277.5(RAB23):c.434T>A (p.Leu145Ter)
|
rs121908171
|
0.00037
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_019109.5(ALG1):c.773C>T (p.Ser258Leu)
|
rs28939378
|
0.00036
|
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser)
|
rs34637584
|
0.00036
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
0.00034
|
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)
|
rs140522266
|
0.00034
|
NM_018122.5(DARS2):c.492+2T>C
|
rs142433332
|
0.00034
|
NM_004260.4(RECQL4):c.1573del (p.Cys525fs)
|
rs386833845
|
0.00033
|
NM_000275.3(OCA2):c.2020C>G (p.Leu674Val)
|
rs371412500
|
0.00032
|
NM_000277.3(PAH):c.194T>C (p.Ile65Thr)
|
rs75193786
|
0.00032
|
NM_032601.4(MCEE):c.139C>T (p.Arg47Ter)
|
rs111033538
|
0.00031
|
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)
|
rs76917243
|
0.00030
|
NM_033629.6(TREX1):c.341G>A (p.Arg114His)
|
rs72556554
|
0.00030
|
NM_000372.5(TYR):c.140G>A (p.Gly47Asp)
|
rs61753180
|
0.00029
|
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)
|
rs144564120
|
0.00029
|
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)
|
rs74315457
|
0.00029
|
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp)
|
rs119103267
|
0.00029
|
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala)
|
rs28940279
|
0.00028
|
NM_000277.3(PAH):c.1066-11G>A
|
rs5030855
|
0.00028
|
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe)
|
rs5030868
|
0.00028
|
NM_002693.3(POLG):c.2542G>A (p.Gly848Ser)
|
rs113994098
|
0.00028
|
NM_000100.4(CSTB):c.67-1G>C
|
rs147484110
|
0.00027
|
NM_000303.3(PMM2):c.722G>C (p.Cys241Ser)
|
rs80338709
|
0.00027
|
NM_003907.3(EIF2B5):c.338G>A (p.Arg113His)
|
rs113994049
|
0.00027
|
NM_144991.3(TSPEAR):c.589C>T (p.Arg197Ter)
|
rs139455627
|
0.00027
|
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)
|
rs11549407
|
0.00026
|
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)
|
rs80356491
|
0.00026
|
NM_005199.5(CHRNG):c.753_754del (p.Val253fs)
|
rs767503038
|
0.00026
|
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser)
|
rs143712760
|
0.00026
|
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)
|
rs137853108
|
0.00026
|
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter)
|
rs185142838
|
0.00025
|
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)
|
rs80358259
|
0.00025
|
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter)
|
rs119455955
|
0.00025
|
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser)
|
rs201842633
|
0.00025
|
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly)
|
rs144078282
|
0.00025
|
NM_020745.4(AARS2):c.1774C>T (p.Arg592Trp)
|
rs138119149
|
0.00025
|
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg)
|
rs121908641
|
0.00025
|
NM_000026.4(ADSL):c.1277G>A (p.Arg426His)
|
rs119450941
|
0.00024
|
NM_001386393.1(PANK2):c.1231G>A (p.Gly411Arg)
|
rs137852959
|
0.00024
|
NM_001163435.3(TBCK):c.376C>T (p.Arg126Ter)
|
rs575822089
|
0.00023
|
NM_000507.4(FBP1):c.960_961insG (p.Ser321fs)
|
rs757653154
|
0.00022
|
NM_014845.6(FIG4):c.737G>A (p.Trp246Ter)
|
rs776005417
|
0.00022
|
NM_021800.3(DNAJC12):c.524G>A (p.Trp175Ter)
|
rs370032864
|
0.00022
|
NM_145064.3(STAC3):c.862A>T (p.Lys288Ter)
|
rs371720347
|
0.00022
|
NM_152743.4(BRAT1):c.294dup (p.Leu99fs)
|
rs776913277
|
0.00022
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)
|
rs141949212
|
0.00021
|
NM_000369.5(TSHR):c.1637G>A (p.Trp546Ter)
|
rs121908866
|
0.00021
|
NM_000518.5(HBB):c.-138C>T
|
rs33944208
|
0.00021
|
NM_000520.6(HEXA):c.1073+1G>A
|
rs76173977
|
0.00021
|
NM_001145860.2(POP1):c.1537C>T (p.Arg513Ter)
|
rs149102421
|
0.00021
|
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr)
|
rs199877522
|
0.00021
|
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys)
|
rs144181978
|
0.00021
|
NM_000277.3(PAH):c.143T>C (p.Leu48Ser)
|
rs5030841
|
0.00020
|
NM_001083614.2(EARS2):c.322C>T (p.Arg108Trp)
|
rs376103091
|
0.00020
|
NM_024339.5(THOC6):c.298T>A (p.Trp100Arg)
|
rs138632121
|
0.00020
|
NM_024339.5(THOC6):c.700G>C (p.Val234Leu)
|
rs150940923
|
0.00020
|
NM_024339.5(THOC6):c.824G>A (p.Gly275Asp)
|
rs200426926
|
0.00020
|
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)
|
rs121434369
|
0.00019
|
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)
|
rs150518260
|
0.00019
|
NM_000352.6(ABCC8):c.3989-9G>A
|
rs151344623
|
0.00019
|
NM_018131.5(CEP55):c.256C>T (p.Arg86Ter)
|
rs141458677
|
0.00019
|
NM_020812.4(DOCK6):c.5939+2T>C
|
rs201387914
|
0.00019
|
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln)
|
rs202160208
|
0.00019
|
NM_145207.3(AFG2A):c.1714+1G>A
|
rs149688478
|
0.00019
|
NM_000372.5(TYR):c.242C>T (p.Pro81Leu)
|
rs28940876
|
0.00018
|
NM_000431.4(MVK):c.803T>C (p.Ile268Thr)
|
rs104895304
|
0.00018
|
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro)
|
rs121909379
|
0.00018
|
NM_000156.6(GAMT):c.327G>A (p.Lys109=)
|
rs80338735
|
0.00017
|
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)
|
rs141498002
|
0.00017
|
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys)
|
rs143441644
|
0.00017
|
NM_000108.5(DLD):c.685G>T (p.Gly229Cys)
|
rs121964990
|
0.00016
|
NM_002180.3(IGHMBP2):c.1488C>A (p.Cys496Ter)
|
rs145226920
|
0.00016
|
NM_002491.3(NDUFB3):c.208G>T (p.Gly70Ter)
|
rs200800978
|
0.00016
|
NM_022124.6(CDH23):c.5237G>A (p.Arg1746Gln)
|
rs111033270
|
0.00016
|
NM_000049.4(ASPA):c.212G>A (p.Arg71His)
|
rs104894553
|
0.00015
|
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu)
|
rs28940574
|
0.00015
|
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val)
|
rs193922103
|
0.00015
|
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)
|
rs121907954
|
0.00015
|
NM_001134665.3(TRMT10A):c.79G>T (p.Glu27Ter)
|
rs142895837
|
0.00015
|
NM_000159.4(GCDH):c.1198G>A (p.Val400Met)
|
rs121434372
|
0.00014
|
NM_000277.3(PAH):c.1042C>G (p.Leu348Val)
|
rs62516092
|
0.00014
|
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter)
|
rs764353860
|
0.00014
|
NM_000303.3(PMM2):c.442G>A (p.Asp148Asn)
|
rs148032587
|
0.00014
|
NM_001126108.2(SLC12A3):c.1928C>T (p.Pro643Leu)
|
rs140012781
|
0.00014
|
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg)
|
rs142808899
|
0.00014
|
NM_002016.2(FLG):c.6239C>A (p.Ser2080Ter)
|
rs147145234
|
0.00014
|
NM_012079.6(DGAT1):c.751+2T>C
|
rs148665132
|
0.00014
|
NM_017837.4(PIGV):c.1022C>A (p.Ala341Glu)
|
rs139073416
|
0.00014
|
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)
|
rs28941784
|
0.00014
|
NM_000329.3(RPE65):c.370C>T (p.Arg124Ter)
|
rs61752877
|
0.00013
|
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)
|
rs137852870
|
0.00013
|
NM_001128178.3(NPHP1):c.859G>A (p.Gly287Arg)
|
rs121907899
|
0.00013
|
NM_015910.7(WDPCP):c.979C>T (p.Gln327Ter)
|
rs182144885
|
0.00013
|
NM_017909.4(RMND1):c.713A>G (p.Asn238Ser)
|
rs144972972
|
0.00013
|
NM_018129.4(PNPO):c.98A>T (p.Asp33Val)
|
rs370243877
|
0.00013
|
NM_024027.5(COLEC11):c.240_241insGA (p.Arg81fs)
|
rs762031914
|
0.00013
|
NM_152419.3(HGSNAT):c.493+1G>A
|
rs193066451
|
0.00013
|
NM_000170.3(GLDC):c.499G>T (p.Glu167Ter)
|
rs191905539
|
0.00012
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
NM_000402.4(G6PD):c.1478G>A (p.Arg493His)
|
rs72554664
|
0.00012
|
NM_000404.4(GLB1):c.622C>T (p.Arg208Cys)
|
rs72555366
|
0.00012
|
NM_001029871.4(RSPO4):c.79+1G>A
|
rs775644973
|
0.00012
|
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys)
|
rs80338856
|
0.00012
|
NM_024649.5(BBS1):c.1645G>T (p.Glu549Ter)
|
rs121917777
|
0.00012
|
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala)
|
rs904631654
|
0.00011
|
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met)
|
rs72552255
|
0.00011
|
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp)
|
rs104894637
|
0.00011
|
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val)
|
rs372030650
|
0.00011
|
NM_000329.3(RPE65):c.272G>A (p.Arg91Gln)
|
rs61752873
|
0.00011
|
NM_000540.3(RYR1):c.1840C>T (p.Arg614Cys)
|
rs118192172
|
0.00011
|
NM_001023570.4(IQCB1):c.1381C>T (p.Arg461Ter)
|
rs121918244
|
0.00011
|
NM_001127701.1(SERPINA1):c.1178C>T (p.Pro393Leu)
|
rs199422209
|
0.00011
|
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)
|
rs80338686
|
0.00011
|
NM_005199.5(CHRNG):c.401_402del (p.Pro134fs)
|
rs747067203
|
0.00011
|
NM_006567.5(FARS2):c.792del (p.Asp265fs)
|
rs761097220
|
0.00011
|
NM_007059.4(KPTN):c.776C>A (p.Ser259Ter)
|
rs374298314
|
0.00011
|
NM_016023.5(OTUD6B):c.343C>T (p.Arg115Ter)
|
rs368313959
|
0.00011
|
NM_018006.5(TRMU):c.835G>A (p.Val279Met)
|
rs387907022
|
0.00011
|
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)
|
rs201689565
|
0.00011
|
NM_139242.4(MTFMT):c.994C>T (p.Arg332Ter)
|
rs200286768
|
0.00011
|
NM_170784.3(MKKS):c.110A>G (p.Tyr37Cys)
|
rs74315396
|
0.00011
|
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter)
|
rs118204429
|
0.00010
|
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu)
|
rs28942074
|
0.00010
|
NM_000277.3(PAH):c.533A>G (p.Glu178Gly)
|
rs77958223
|
0.00010
|
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)
|
rs5030851
|
0.00010
|
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter)
|
rs61753238
|
0.00010
|
NM_000400.4(ERCC2):c.1847G>C (p.Arg616Pro)
|
rs376556895
|
0.00010
|
NM_000402.4(G6PD):c.961G>A (p.Val321Met)
|
rs137852327
|
0.00010
|
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu)
|
rs120074117
|
0.00010
|
NM_001041.4(SI):c.3370C>T (p.Arg1124Ter)
|
rs200451408
|
0.00010
|
NM_001110792.2(MECP2):c.1199dup (p.Pro401fs)
|
rs267608339
|
0.00010
|
NM_001182.5(ALDH7A1):c.328C>T (p.Arg110Ter)
|
rs121912708
|
0.00010
|
NM_003119.4(SPG7):c.1672A>T (p.Lys558Ter)
|
rs369227537
|
0.00010
|
NM_016327.3(UPB1):c.105-2A>G
|
rs138081800
|
0.00010
|
NM_018706.7(DHTKD1):c.1309G>T (p.Glu437Ter)
|
rs138884194
|
0.00010
|
NM_024079.5(ALG8):c.1090C>T (p.Arg364Ter)
|
rs376161880
|
0.00010
|
NM_031885.5(BBS2):c.1895G>C (p.Arg632Pro)
|
rs138043021
|
0.00010
|
NM_152564.5(VPS13B):c.6657+1G>A
|
rs180177366
|
0.00010
|
NM_176787.5(PIGN):c.548_549+6del
|
rs779636222
|
0.00010
|
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)
|
rs79761867
|
0.00010
|
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln)
|
rs191582628
|
0.00010
|
NM_000026.4(ADSL):c.340T>C (p.Tyr114His)
|
rs374259530
|
0.00009
|
NM_000053.4(ATP7B):c.2336G>A (p.Trp779Ter)
|
rs137853283
|
0.00009
|
NM_000053.4(ATP7B):c.3191A>C (p.Glu1064Ala)
|
rs374094065
|
0.00009
|
NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter)
|
rs193922109
|
0.00009
|
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter)
|
rs151242354
|
0.00009
|
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu)
|
rs121913578
|
0.00009
|
NM_000277.3(PAH):c.117C>G (p.Phe39Leu)
|
rs62642926
|
0.00009
|
NM_000277.3(PAH):c.838G>A (p.Glu280Lys)
|
rs62508698
|
0.00009
|
NM_000518.5(HBB):c.93-21G>A
|
rs35004220
|
0.00009
|
NM_000687.4(AHCY):c.428A>G (p.Tyr143Cys)
|
rs121918608
|
0.00009
|
NM_001080.3(ALDH5A1):c.803G>A (p.Gly268Glu)
|
rs375628463
|
0.00009
|
NM_001126108.2(SLC12A3):c.1315G>A (p.Gly439Ser)
|
rs759377924
|
0.00009
|
NM_001352514.2(HLCS):c.1974dup (p.Val659fs)
|
rs767533946
|
0.00009
|
NM_001692.4(ATP6V1B1):c.232G>A (p.Gly78Arg)
|
rs121964881
|
0.00009
|
NM_002109.6(HARS1):c.1361A>C (p.Tyr454Ser)
|
rs387906639
|
0.00009
|
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln)
|
rs149712244
|
0.00009
|
NM_004260.4(RECQL4):c.2269C>T (p.Gln757Ter)
|
rs137853229
|
0.00009
|
NM_014845.6(FIG4):c.1141C>T (p.Arg381Ter)
|
rs377357931
|
0.00009
|
NM_015087.5(SPART):c.364_365del (p.Met122fs)
|
rs775736341
|
0.00009
|
NM_017739.4(POMGNT1):c.1895+1G>T
|
rs386834024
|
0.00009
|
NM_153704.6(TMEM67):c.1843T>C (p.Cys615Arg)
|
rs201893408
|
0.00009
|
NM_000053.4(ATP7B):c.2731-2A>G
|
rs367956522
|
0.00008
|
NM_000402.4(G6PD):c.185A>G (p.His62Arg)
|
rs137852340
|
0.00008
|
NM_000528.4(MAN2B1):c.1830+1G>C
|
rs80338677
|
0.00008
|
NM_001126108.2(SLC12A3):c.1664C>T (p.Ser555Leu)
|
rs148038173
|
0.00008
|
NM_001126108.2(SLC12A3):c.2864G>A (p.Arg955Gln)
|
rs202114767
|
0.00008
|
NM_001363118.2(SLC52A2):c.1016T>C (p.Leu339Pro)
|
rs148234606
|
0.00008
|
NM_002180.3(IGHMBP2):c.1082T>C (p.Leu361Pro)
|
rs201060167
|
0.00008
|
NM_006907.4(PYCR1):c.633+1G>C
|
rs144346996
|
0.00008
|
NM_020166.5(MCCC1):c.1155A>C (p.Arg385Ser)
|
rs119103213
|
0.00008
|
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter)
|
rs137852927
|
0.00008
|
NM_000303.3(PMM2):c.255+2T>C
|
rs139716296
|
0.00007
|
NM_000518.5(HBB):c.92+6T>C
|
rs35724775
|
0.00007
|
NM_001083116.3(PRF1):c.445G>A (p.Gly149Ser)
|
rs147462227
|
0.00007
|
NM_001353108.3(CEP63):c.31C>T (p.Arg11Ter)
|
rs763001827
|
0.00007
|
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser)
|
rs80338862
|
0.00007
|
NM_001363711.2(DUOX2):c.1300C>T (p.Arg434Ter)
|
rs119472026
|
0.00007
|
NM_004820.5(CYP7B1):c.334C>T (p.Arg112Ter)
|
rs200737038
|
0.00007
|
NM_005609.4(PYGM):c.1768+1G>A
|
rs771427957
|
0.00007
|
NM_006214.4(PHYH):c.823C>T (p.Arg275Trp)
|
rs104894178
|
0.00007
|
NM_006765.4(TUSC3):c.992C>A (p.Ser331Ter)
|
rs200667343
|
0.00007
|
NM_006907.4(PYCR1):c.769G>A (p.Ala257Thr)
|
rs281875318
|
0.00007
|
NM_006907.4(PYCR1):c.797G>A (p.Arg266Gln)
|
rs121918374
|
0.00007
|
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)
|
rs121918243
|
0.00007
|
NM_018249.6(CDK5RAP2):c.3097del (p.Val1033fs)
|
rs747831095
|
0.00007
|
NM_022089.4(ATP13A2):c.3057del (p.Tyr1020fs)
|
rs765632065
|
0.00007
|
NM_025114.4(CEP290):c.4882C>T (p.Gln1628Ter)
|
rs376493409
|
0.00007
|
NM_206937.2(LIG4):c.2440C>T (p.Arg814Ter)
|
rs104894419
|
0.00007
|
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala)
|
rs587783299
|
0.00006
|
NM_000108.5(DLD):c.1123G>A (p.Glu375Lys)
|
rs121964992
|
0.00006
|
NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter)
|
rs763494292
|
0.00006
|
NM_000310.4(PPT1):c.223A>C (p.Thr75Pro)
|
rs137852696
|
0.00006
|
NM_000310.4(PPT1):c.541G>A (p.Val181Met)
|
rs148412181
|
0.00006
|
NM_000404.4(GLB1):c.1733A>G (p.Lys578Arg)
|
rs371582179
|
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_001080.3(ALDH5A1):c.819del (p.Asp274fs)
|
rs778127154
|
0.00006
|
NM_001122769.3(LCA5):c.835C>T (p.Gln279Ter)
|
rs121918165
|
0.00006
|
NM_001159773.2(CANT1):c.277_278del (p.Leu93fs)
|
rs587776897
|
0.00006
|
NM_001360.3(DHCR7):c.1210C>T (p.Arg404Cys)
|
rs61757582
|
0.00006
|
NM_001363118.2(SLC52A2):c.916G>A (p.Gly306Arg)
|
rs398124641
|
0.00006
|
NM_001876.4(CPT1A):c.1436C>T (p.Pro479Leu)
|
rs80356779
|
0.00006
|
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln)
|
rs121913502
|
0.00006
|
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)
|
rs144500145
|
0.00006
|
NM_003384.3(VRK1):c.1072C>T (p.Arg358Ter)
|
rs137853063
|
0.00006
|
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)
|
rs121908680
|
0.00006
|
NM_004204.5(PIGQ):c.942+1G>A
|
rs200661329
|
0.00006
|
NM_014845.6(FIG4):c.793C>T (p.Arg265Ter)
|
rs774294963
|
0.00006
|
NM_016373.4(WWOX):c.749C>G (p.Ser250Ter)
|
rs368928190
|
0.00006
|
NM_018127.7(ELAC2):c.2009del (p.Cys670fs)
|
rs761385155
|
0.00006
|
NM_018136.5(ASPM):c.10168C>T (p.Arg3390Ter)
|
rs587783211
|
0.00006
|
NM_025152.3(NUBPL):c.311T>C (p.Leu104Pro)
|
rs201430951
|
0.00006
|
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)
|
rs74315398
|
0.00006
|
NM_173689.7(CRB2):c.2445_2446del (p.Cys816fs)
|
rs777114603
|
0.00006
|
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter)
|
rs104894707
|
0.00006
|
NM_000053.4(ATP7B):c.3182G>A (p.Gly1061Glu)
|
rs764131178
|
0.00005
|
NM_000155.4(GALT):c.253-2A>G
|
rs111033661
|
0.00005
|
NM_000156.6(GAMT):c.59G>C (p.Trp20Ser)
|
rs80338734
|
0.00005
|
NM_000197.2(HSD17B3):c.845C>T (p.Pro282Leu)
|
rs144809928
|
0.00005
|
NM_000260.4(MYO7A):c.3719G>A (p.Arg1240Gln)
|
rs111033178
|
0.00005
|
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg)
|
rs121909152
|
0.00005
|
NM_000520.6(HEXA):c.533G>A (p.Arg178His)
|
rs28941770
|
0.00005
|
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu)
|
rs374722096
|
0.00005
|
NM_001126108.2(SLC12A3):c.2938G>A (p.Gly980Arg)
|
rs34803727
|
0.00005
|
NM_001199107.2(TBC1D24):c.1008del (p.His336fs)
|
rs398122967
|
0.00005
|
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter)
|
rs200440128
|
0.00005
|
NM_001363118.2(SLC52A2):c.383C>T (p.Ser128Leu)
|
rs374071862
|
0.00005
|
NM_005589.4(ALDH6A1):c.1156C>T (p.Arg386Ter)
|
rs781767219
|
0.00005
|
NM_006303.4(AIMP2):c.575-2A>G
|
rs869312968
|
0.00005
|
NM_015665.6(AAAS):c.787T>C (p.Ser263Pro)
|
rs121918550
|
0.00005
|
NM_015937.6(PIGT):c.918dup (p.Val307fs)
|
rs751861982
|
0.00005
|
NM_016219.5(MAN1B1):c.1000C>T (p.Arg334Cys)
|
rs387906886
|
0.00005
|
NM_016955.4(SEPSECS):c.811C>T (p.Arg271Ter)
|
rs745870736
|
0.00005
|
NM_020442.6(VARS2):c.1456G>T (p.Glu486Ter)
|
rs143821815
|
0.00005
|
NM_020964.3(EPG5):c.263T>G (p.Leu88Ter)
|
rs183478189
|
0.00005
|
NM_024685.4(BBS10):c.145C>T (p.Arg49Trp)
|
rs768933093
|
0.00005
|
NM_025137.4(SPG11):c.2431C>T (p.Gln811Ter)
|
rs756134516
|
0.00005
|
NM_025137.4(SPG11):c.733_734del (p.Met245fs)
|
rs312262720
|
0.00005
|
NM_205850.3(SLC24A5):c.989G>A (p.Trp330Ter)
|
rs753732275
|
0.00005
|
NM_000019.4(ACAT1):c.473A>G (p.Asn158Ser)
|
rs199524907
|
0.00004
|
NM_000046.5(ARSB):c.971G>T (p.Gly324Val)
|
rs398123125
|
0.00004
|
NM_000126.4(ETFA):c.52C>T (p.Arg18Ter)
|
rs754202690
|
0.00004
|
NM_000178.4(GSS):c.491G>A (p.Arg164Gln)
|
rs121909307
|
0.00004
|
NM_000197.2(HSD17B3):c.278-1G>C
|
rs149607031
|
0.00004
|
NM_000199.5(SGSH):c.1129C>T (p.Arg377Cys)
|
rs772311757
|
0.00004
|
NM_000199.5(SGSH):c.877C>T (p.Pro293Ser)
|
rs143947056
|
0.00004
|
NM_000260.4(MYO7A):c.3503G>A (p.Arg1168Gln)
|
rs797044516
|
0.00004
|
NM_000277.3(PAH):c.261C>A (p.Ser87Arg)
|
rs62516151
|
0.00004
|
NM_000277.3(PAH):c.727C>T (p.Arg243Ter)
|
rs5030846
|
0.00004
|
NM_000277.3(PAH):c.964G>A (p.Ala322Thr)
|
rs62514957
|
0.00004
|
NM_000310.4(PPT1):c.29T>A (p.Leu10Ter)
|
rs137852699
|
0.00004
|
NM_000352.6(ABCC8):c.2041-21G>A
|
rs746714109
|
0.00004
|
NM_000372.5(TYR):c.1147G>A (p.Asp383Asn)
|
rs121908011
|
0.00004
|
NM_000380.4(XPA):c.555+8A>G
|
rs756967163
|
0.00004
|
NM_000400.4(ERCC2):c.2173G>C (p.Ala725Pro)
|
rs121913018
|
0.00004
|
NM_000404.4(GLB1):c.176G>A (p.Arg59His)
|
rs72555392
|
0.00004
|
NM_000426.4(LAMA2):c.7732C>T (p.Arg2578Ter)
|
rs121913572
|
0.00004
|
NM_000520.6(HEXA):c.1496G>A (p.Arg499His)
|
rs121907956
|
0.00004
|
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)
|
rs377178986
|
0.00004
|
NM_001126108.2(SLC12A3):c.434G>A (p.Arg145His)
|
rs374324018
|
0.00004
|
NM_001126108.2(SLC12A3):c.626G>A (p.Arg209Gln)
|
rs758035631
|
0.00004
|
NM_001242896.3(DEPDC5):c.1909C>T (p.Arg637Ter)
|
rs780960812
|
0.00004
|
NM_001278716.2(FBXL4):c.1303C>T (p.Arg435Ter)
|
rs201889294
|
0.00004
|
NM_001360.3(DHCR7):c.1A>G (p.Met1Val)
|
rs104886033
|
0.00004
|
NM_001363118.2(SLC52A2):c.935T>C (p.Leu312Pro)
|
rs754320812
|
0.00004
|
NM_001378615.1(CC2D2A):c.2803C>T (p.Arg935Ter)
|
rs563610095
|
0.00004
|
NM_001384732.1(CPLANE1):c.8872C>T (p.Arg2958Ter)
|
rs141507441
|
0.00004
|
NM_002016.2(FLG):c.7031C>G (p.Ser2344Ter)
|
rs372754256
|
0.00004
|
NM_002180.3(IGHMBP2):c.2368C>T (p.Arg790Ter)
|
rs773242930
|
0.00004
|
NM_002693.3(POLG):c.3104+3A>T
|
rs778573169
|
0.00004
|
NM_002693.3(POLG):c.911T>G (p.Leu304Arg)
|
rs121918044
|
0.00004
|
NM_003060.4(SLC22A5):c.1319C>T (p.Thr440Met)
|
rs72552732
|
0.00004
|
NM_003906.5(MCM3AP):c.3476_3477del (p.Gln1159fs)
|
rs756431692
|
0.00004
|
NM_005262.3(GFER):c.581G>A (p.Arg194His)
|
rs121908192
|
0.00004
|
NM_005726.6(TSFM):c.934C>T (p.Arg312Trp)
|
rs121909485
|
0.00004
|
NM_005993.5(TBCD):c.988C>T (p.Gln330Ter)
|
rs1419604407
|
0.00004
|
NM_006343.3(MERTK):c.2189+1G>T
|
rs371956016
|
0.00004
|
NM_006907.4(PYCR1):c.751C>T (p.Arg251Cys)
|
rs756363870
|
0.00004
|
NM_007254.4(PNKP):c.1123G>T (p.Gly375Trp)
|
rs786203983
|
0.00004
|
NM_007254.4(PNKP):c.603dup (p.Lys202Ter)
|
rs796052859
|
0.00004
|
NM_012123.4(MTO1):c.1201C>T (p.Arg401Ter)
|
rs775623164
|
0.00004
|
NM_014053.4(FLVCR1):c.2T>C (p.Met1Thr)
|
rs1468358104
|
0.00004
|
NM_015046.7(SETX):c.5591_5592del (p.Gln1864fs)
|
rs776470487
|
0.00004
|
NM_015272.5(RPGRIP1L):c.2200C>T (p.Arg734Ter)
|
rs751128300
|
0.00004
|
NM_017775.4(TTC19):c.656T>G (p.Leu219Ter)
|
rs747166010
|
0.00004
|
NM_018941.4(CLN8):c.499G>T (p.Glu167Ter)
|
rs144495588
|
0.00004
|
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)
|
rs104894080
|
0.00004
|
NM_020680.4(SCYL1):c.399del (p.Asn133fs)
|
rs755131489
|
0.00004
|
NM_022336.4(EDAR):c.77C>T (p.Ala26Val)
|
rs550414401
|
0.00004
|
NM_024989.4(PGAP1):c.2042del (p.Leu681fs)
|
rs756609752
|
0.00004
|
NM_025099.6(CTC1):c.1683dup (p.Lys562Ter)
|
rs1053748363
|
0.00004
|
NM_025103.4(IFT74):c.535C>G (p.Gln179Glu)
|
rs150219690
|
0.00004
|
NM_025114.4(CEP290):c.508A>T (p.Lys170Ter)
|
rs772170760
|
0.00004
|
NM_025137.4(SPG11):c.3664_3665insT (p.Lys1222fs)
|
rs312262755
|
0.00004
|
NM_052845.4(MMAB):c.571C>T (p.Arg191Trp)
|
rs376128990
|
0.00004
|
NM_054012.4(ASS1):c.352G>A (p.Ala118Thr)
|
rs775305020
|
0.00004
|
NM_078470.6(COX15):c.649C>T (p.Arg217Trp)
|
rs28939711
|
0.00004
|
NM_174889.5(NDUFAF2):c.139C>T (p.Arg47Ter)
|
rs137852863
|
0.00004
|
NM_177550.5(SLC13A5):c.997C>T (p.Arg333Ter)
|
rs773770609
|
0.00004
|
NM_198076.6(COX20):c.41A>G (p.Lys14Arg)
|
rs1057521790
|
0.00004
|
NM_198525.3(KIF7):c.328+2T>G
|
rs781752990
|
0.00004
|
NM_198586.3(NHLRC1):c.468_469del (p.Gly158fs)
|
rs587776542
|
0.00004
|
NM_000053.4(ATP7B):c.2332C>T (p.Arg778Trp)
|
rs137853284
|
0.00003
|
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser)
|
rs121907990
|
0.00003
|
NM_000124.4(ERCC6):c.1834C>T (p.Arg612Ter)
|
rs376526037
|
0.00003
|
NM_000124.4(ERCC6):c.526C>T (p.Arg176Ter)
|
rs771781694
|
0.00003
|
NM_000153.4(GALC):c.1186C>T (p.Arg396Trp)
|
rs770485731
|
0.00003
|
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser)
|
rs752537626
|
0.00003
|
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys)
|
rs104894639
|
0.00003
|
NM_000199.5(SGSH):c.697C>T (p.Arg233Ter)
|
rs374621913
|
0.00003
|
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)
|
rs121965021
|
0.00003
|
NM_000211.5(ITGB2):c.850G>A (p.Gly284Ser)
|
rs137852616
|
0.00003
|
NM_000277.3(PAH):c.136G>A (p.Gly46Ser)
|
rs74603784
|
0.00003
|
NM_000277.3(PAH):c.516G>T (p.Gln172His)
|
rs192592111
|
0.00003
|
NM_000277.3(PAH):c.60+5G>T
|
rs62514895
|
0.00003
|
NM_000287.4(PEX6):c.821C>T (p.Pro274Leu)
|
rs61753219
|
0.00003
|
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu)
|
rs80338701
|
0.00003
|
NM_000334.4(SCN4A):c.3466G>A (p.Ala1156Thr)
|
rs80338958
|
0.00003
|
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr)
|
rs5030869
|
0.00003
|
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter)
|
rs747349942
|
0.00003
|
NM_000426.4(LAMA2):c.939_940del (p.Cys314fs)
|
rs1209130981
|
0.00003
|
NM_000512.5(GALNS):c.884C>T (p.Ser295Phe)
|
rs149239881
|
0.00003
|
NM_000518.5(HBB):c.51del (p.Lys18fs)
|
rs35662066
|
0.00003
|
NM_000540.3(RYR1):c.5115_5122del (p.Leu1706fs)
|
rs1248355799
|
0.00003
|
NM_000642.3(AGL):c.4529dup (p.Tyr1510Ter)
|
rs387906244
|
0.00003
|
NM_001005373.4(LRSAM1):c.1913-1G>A
|
rs756880678
|
0.00003
|
NM_001010867.4(IBA57):c.316del (p.Thr106fs)
|
rs757794637
|
0.00003
|
NM_001032386.2(SUOX):c.649C>T (p.Arg217Trp)
|
rs765738385
|
0.00003
|
NM_001042432.2(CLN3):c.883G>A (p.Glu295Lys)
|
rs121434286
|
0.00003
|
NM_001080510.5(METTL23):c.150dup (p.Asp51fs)
|
rs1462161137
|
0.00003
|
NM_001083116.3(PRF1):c.1122G>A (p.Trp374Ter)
|
rs104894176
|
0.00003
|
NM_001160372.4(TRAPPC9):c.1414C>T (p.Arg472Ter)
|
rs267607137
|
0.00003
|
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter)
|
rs749452641
|
0.00003
|
NM_001199107.2(TBC1D24):c.724C>T (p.Arg242Cys)
|
rs398122965
|
0.00003
|
NM_001278716.2(FBXL4):c.1444C>T (p.Arg482Trp)
|
rs398123061
|
0.00003
|
NM_001312673.2(PCYT1A):c.296C>T (p.Ala99Val)
|
rs587777189
|
0.00003
|
NM_001360.3(DHCR7):c.461C>G (p.Thr154Arg)
|
rs143312232
|
0.00003
|
NM_001365999.1(SZT2):c.5872C>T (p.Arg1958Ter)
|
rs145577757
|
0.00003
|
NM_001374828.1(ARID1B):c.1987-29738G>T
|
rs201653711
|
0.00003
|
NM_001611.5(ACP5):c.325G>A (p.Gly109Arg)
|
rs781050795
|
0.00003
|
NM_001953.5(TYMP):c.1159+1G>A
|
rs1044840059
|
0.00003
|
NM_002180.3(IGHMBP2):c.1478C>T (p.Thr493Ile)
|
rs780594709
|
0.00003
|
NM_002529.4(NTRK1):c.851-33T>A
|
rs80356674
|
0.00003
|
NM_002768.5(CHMP1A):c.108C>T (p.Ala36=)
|
rs764358419
|
0.00003
|
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer)
|
rs587784353
|
0.00003
|
NM_003865.3(HESX1):c.479G>A (p.Arg160His)
|
rs766234350
|
0.00003
|
NM_004817.4(TJP2):c.1771C>T (p.Arg591Ter)
|
rs764379398
|
0.00003
|
NM_005051.3(QARS1):c.1284_1285del (p.Asp430fs)
|
rs775652214
|
0.00003
|
NM_005670.4(EPM2A):c.721C>T (p.Arg241Ter)
|
rs104893950
|
0.00003
|
NM_014053.4(FLVCR1):c.574T>C (p.Cys192Arg)
|
rs267606821
|
0.00003
|
NM_014845.6(FIG4):c.2459+1G>A
|
rs747768373
|
0.00003
|
NM_016103.4(SAR1B):c.83_84del (p.Leu28fs)
|
rs755928019
|
0.00003
|
NM_016219.5(MAN1B1):c.1833_1834del (p.Asp613fs)
|
rs1382373816
|
0.00003
|
NM_018297.4(NGLY1):c.1405C>T (p.Arg469Ter)
|
rs768131676
|
0.00003
|
NM_018972.4(GDAP1):c.845G>A (p.Arg282His)
|
rs375431837
|
0.00003
|
NM_020533.3(MCOLN1):c.920del (p.Leu307fs)
|
rs755042147
|
0.00003
|
NM_020632.3(ATP6V0A4):c.1987dup (p.Arg663fs)
|
rs1252623454
|
0.00003
|
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys)
|
rs80338926
|
0.00003
|
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter)
|
rs118203963
|
0.00003
|
NM_025243.4(SLC19A3):c.854G>A (p.Trp285Ter)
|
rs373198092
|
0.00003
|
NM_032756.4(HPDL):c.3G>C (p.Met1Ile)
|
rs777607274
|
0.00003
|
NM_052845.4(MMAB):c.572G>A (p.Arg191Gln)
|
rs746219370
|
0.00003
|
NM_080669.6(SLC46A1):c.1082-1G>A
|
rs80338775
|
0.00003
|
NM_130466.4(UBE3B):c.61G>T (p.Glu21Ter)
|
rs775981553
|
0.00003
|
NM_138694.4(PKHD1):c.10658T>C (p.Ile3553Thr)
|
rs137852948
|
0.00003
|
NM_182758.4(WDR72):c.708G>A (p.Trp236Ter)
|
rs1266819147
|
0.00003
|
NM_198586.3(NHLRC1):c.436G>A (p.Asp146Asn)
|
rs769301934
|
0.00003
|
NM_201631.4(TGM5):c.104G>A (p.Arg35Gln)
|
rs749224503
|
0.00003
|
NM_206965.2(FTCD):c.763C>T (p.Arg255Ter)
|
rs140217223
|
0.00003
|
NM_000146.4(FTL):c.310G>T (p.Glu104Ter)
|
rs199869995
|
0.00002
|
NM_000153.4(GALC):c.628A>T (p.Arg210Ter)
|
rs202131052
|
0.00002
|
NM_000159.4(GCDH):c.937C>T (p.Arg313Trp)
|
rs779315456
|
0.00002
|
NM_000211.5(ITGB2):c.2070del (p.Asp690fs)
|
rs1466186480
|
0.00002
|
NM_000232.5(SGCB):c.271C>T (p.Arg91Cys)
|
rs555514820
|
0.00002
|
NM_000260.4(MYO7A):c.722G>A (p.Arg241His)
|
rs111033284
|
0.00002
|
NM_000311.5(PRNP):c.628G>A (p.Val210Ile)
|
rs74315407
|
0.00002
|
NM_000312.4(PROC):c.1015G>A (p.Val339Met)
|
rs121918158
|
0.00002
|
NM_000341.4(SLC3A1):c.1500+1G>T
|
rs886042834
|
0.00002
|
NM_000391.4(TPP1):c.1266G>C (p.Gln422His)
|
rs121908200
|
0.00002
|
NM_000466.3(PEX1):c.782_783del (p.Gln261fs)
|
rs749067142
|
0.00002
|
NM_000487.6(ARSA):c.979G>A (p.Gly327Ser)
|
rs148092995
|
0.00002
|
NM_000492.4(CFTR):c.988G>T (p.Gly330Ter)
|
rs79031340
|
0.00002
|
NM_000528.4(MAN2B1):c.1929-1G>T
|
rs763100457
|
0.00002
|
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr)
|
rs765893479
|
0.00002
|
NM_001077365.2(POMT1):c.1196del (p.Leu399fs)
|
rs768144522
|
0.00002
|
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser)
|
rs137852972
|
0.00002
|
NM_001160372.4(TRAPPC9):c.289G>T (p.Glu97Ter)
|
rs781469639
|
0.00002
|
NM_001253852.3(AP4B1):c.1345A>T (p.Arg449Ter)
|
rs142209254
|
0.00002
|
NM_001278716.2(FBXL4):c.1304G>A (p.Arg435Gln)
|
rs754142863
|
0.00002
|
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)
|
rs397514367
|
0.00002
|
NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met)
|
rs137852967
|
0.00002
|
NM_001611.5(ACP5):c.526C>T (p.Arg176Ter)
|
rs1025967277
|
0.00002
|
NM_001673.5(ASNS):c.1393C>T (p.Arg465Ter)
|
rs373774032
|
0.00002
|
NM_002894.3(RBBP8):c.1072del (p.His358fs)
|
rs754390284
|
0.00002
|
NM_003060.4(SLC22A5):c.845G>A (p.Arg282Gln)
|
rs386134210
|
0.00002
|
NM_003793.4(CTSF):c.649C>T (p.Arg217Ter)
|
rs375562245
|
0.00002
|
NM_003801.4(GPAA1):c.643C>T (p.Arg215Ter)
|
rs782498857
|
0.00002
|
NM_003907.3(EIF2B5):c.318A>T (p.Leu106Phe)
|
rs113994048
|
0.00002
|
NM_004004.6(GJB2):c.290dup (p.Tyr97Ter)
|
rs786204491
|
0.00002
|
NM_004204.5(PIGQ):c.968_969del (p.Leu323fs)
|
rs747661902
|
0.00002
|
NM_004211.5(SLC6A5):c.1315C>T (p.Arg439Ter)
|
rs142573911
|
0.00002
|
NM_004618.5(TOP3A):c.1723A>G (p.Met575Val)
|
rs372121045
|
0.00002
|
NM_004999.4(MYO6):c.826C>T (p.Arg276Ter)
|
rs727503326
|
0.00002
|
NM_005262.3(GFER):c.566C>G (p.Ser189Ter)
|
rs373135339
|
0.00002
|
NM_006261.5(PROP1):c.296G>A (p.Arg99Gln)
|
rs137853100
|
0.00002
|
NM_006736.6(DNAJB2):c.352+1G>A
|
rs756614404
|
0.00002
|
NM_006907.4(PYCR1):c.138+1G>A
|
rs755867227
|
0.00002
|
NM_012123.4(MTO1):c.1462C>T (p.Arg488Ter)
|
rs771939280
|
0.00002
|
NM_014625.4(NPHS2):c.890C>T (p.Ala297Val)
|
rs199506378
|
0.00002
|
NM_014874.4(MFN2):c.334G>A (p.Val112Met)
|
rs757937208
|
0.00002
|
NM_015272.5(RPGRIP1L):c.2794_2795del (p.Leu932fs)
|
rs778824093
|
0.00002
|
NM_015272.5(RPGRIP1L):c.3529C>T (p.Arg1177Ter)
|
rs778533826
|
0.00002
|
NM_015346.4(ZFYVE26):c.592C>T (p.Arg198Ter)
|
rs200832994
|
0.00002
|
NM_016038.4(SBDS):c.258+1G>C
|
rs113993992
|
0.00002
|
NM_017613.4(DONSON):c.1254dup (p.Lys419Ter)
|
rs765112107
|
0.00002
|
NM_018255.4(ELP2):c.1384C>T (p.Arg462Trp)
|
rs767713084
|
0.00002
|
NM_018668.5(VPS33B):c.832dup (p.Leu278fs)
|
rs1442840881
|
0.00002
|
NM_018965.4(TREM2):c.97C>T (p.Gln33Ter)
|
rs104894002
|
0.00002
|
NM_019023.5(PRMT7):c.1402C>T (p.Gln468Ter)
|
rs779212218
|
0.00002
|
NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter)
|
rs767350733
|
0.00002
|
NM_024306.5(FA2H):c.565C>T (p.Arg189Ter)
|
rs765086319
|
0.00002
|
NM_024417.5(FDXR):c.1156C>T (p.Arg386Trp)
|
rs760345680
|
0.00002
|
NM_024417.5(FDXR):c.925C>T (p.Arg309Ter)
|
rs760030067
|
0.00002
|
NM_025137.4(SPG11):c.258-2A>C
|
rs781665076
|
0.00002
|
NM_025137.4(SPG11):c.4746_4747insTG (p.Asn1583Ter)
|
rs764186203
|
0.00002
|
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)
|
rs141848292
|
0.00002
|
NM_025216.3(WNT10A):c.742C>T (p.Arg248Ter)
|
rs886039453
|
0.00002
|
NM_025243.4(SLC19A3):c.68G>T (p.Gly23Val)
|
rs121917882
|
0.00002
|
NM_033419.5(PGAP3):c.109G>T (p.Glu37Ter)
|
rs1242562412
|
0.00002
|
NM_139315.3(TAF6):c.212T>C (p.Ile71Thr)
|
rs374993554
|
0.00002
|
NM_213655.5(WNK1):c.3301C>T (p.Gln1101Ter)
|
rs111033590
|
0.00002
|
NM_000027.4(AGA):c.800dup (p.Pro268fs)
|
rs386833436
|
0.00001
|
NM_000045.4(ARG1):c.61C>T (p.Arg21Ter)
|
rs104893944
|
0.00001
|
NM_000053.4(ATP7B):c.2807T>A (p.Leu936Ter)
|
rs776002066
|
0.00001
|
NM_000053.4(ATP7B):c.2975C>T (p.Pro992Leu)
|
rs201038679
|
0.00001
|
NM_000053.4(ATP7B):c.3556G>A (p.Gly1186Ser)
|
rs786204547
|
0.00001
|
NM_000082.4(ERCC8):c.797A>G (p.Asp266Gly)
|
rs281875225
|
0.00001
|
NM_000091.5(COL4A3):c.4348C>T (p.Arg1450Ter)
|
rs1189607438
|
0.00001
|
NM_000100.4(CSTB):c.136C>T (p.Gln46Ter)
|
rs545986367
|
0.00001
|
NM_000122.2(ERCC3):c.2131C>T (p.Gln711Ter)
|
rs763315862
|
0.00001
|
NM_000124.4(ERCC6):c.2008C>T (p.Arg670Trp)
|
rs202080674
|
0.00001
|
NM_000124.4(ERCC6):c.763A>T (p.Lys255Ter)
|
rs999171980
|
0.00001
|
NM_000155.4(GALT):c.821-7A>G
|
rs767337193
|
0.00001
|
NM_000166.6(GJB1):c.305A>G (p.Glu102Gly)
|
rs779696968
|
0.00001
|
NM_000166.6(GJB1):c.415G>A (p.Val139Met)
|
rs104894812
|
0.00001
|
NM_000170.3(GLDC):c.1117C>T (p.Arg373Trp)
|
rs150171524
|
0.00001
|
NM_000180.4(GUCY2D):c.1566+1G>A
|
rs1348467293
|
0.00001
|
NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter)
|
rs1212444447
|
0.00001
|
NM_000199.5(SGSH):c.1298G>A (p.Arg433Gln)
|
rs104894641
|
0.00001
|
NM_000263.4(NAGLU):c.1597C>T (p.Arg533Ter)
|
rs1244655820
|
0.00001
|
NM_000263.4(NAGLU):c.1991C>T (p.Ala664Val)
|
rs746006696
|
0.00001
|
NM_000277.3(PAH):c.441+1G>A
|
rs62517166
|
0.00001
|
NM_000277.3(PAH):c.728G>A (p.Arg243Gln)
|
rs62508588
|
0.00001
|
NM_000287.4(PEX6):c.1841del (p.Leu614fs)
|
rs863225083
|
0.00001
|
NM_000297.4(PKD2):c.1319+1G>A
|
rs1131692280
|
0.00001
|
NM_000297.4(PKD2):c.2419C>T (p.Arg807Ter)
|
rs1276594505
|
0.00001
|
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp)
|
rs1553925453
|
0.00001
|
NM_000297.4(PKD2):c.973C>T (p.Arg325Ter)
|
rs1060503526
|
0.00001
|
NM_000310.4(PPT1):c.3G>A (p.Met1Ile)
|
rs386833645
|
0.00001
|
NM_000310.4(PPT1):c.550G>A (p.Glu184Lys)
|
rs386833655
|
0.00001
|
NM_000318.3(PEX2):c.624dup (p.Pro209fs)
|
rs1438831421
|
0.00001
|
NM_000330.4(RS1):c.214G>A (p.Glu72Lys)
|
rs104894928
|
0.00001
|
NM_000396.4(CTSK):c.436G>C (p.Gly146Arg)
|
rs74315302
|
0.00001
|
NM_000404.4(GLB1):c.245C>T (p.Thr82Met)
|
rs72555393
|
0.00001
|
NM_000404.4(GLB1):c.808T>G (p.Tyr270Asp)
|
rs376663785
|
0.00001
|
NM_000414.4(HSD17B4):c.1516C>T (p.Arg506Cys)
|
rs766199971
|
0.00001
|
NM_000426.4(LAMA2):c.1854_1861dup (p.Leu621fs)
|
rs202247791
|
0.00001
|
NM_000426.4(LAMA2):c.5234+1G>A
|
rs781376927
|
0.00001
|
NM_000426.4(LAMA2):c.5914C>T (p.Gln1972Ter)
|
rs398123378
|
0.00001
|
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter)
|
rs753942596
|
0.00001
|
NM_000460.4(THPO):c.112C>T (p.Arg38Cys)
|
rs760797899
|
0.00001
|
NM_000478.6(ALPL):c.1171C>T (p.Arg391Cys)
|
rs371243939
|
0.00001
|
NM_000478.6(ALPL):c.997+2T>A
|
rs1057517391
|
0.00001
|
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser)
|
rs74315461
|
0.00001
|
NM_000512.5(GALNS):c.268C>T (p.Arg90Trp)
|
rs1028668536
|
0.00001
|
NM_000512.5(GALNS):c.953T>G (p.Met318Arg)
|
rs746756997
|
0.00001
|
NM_000516.7(GNAS):c.602G>A (p.Arg201His)
|
rs121913495
|
0.00001
|
NM_000518.5(HBB):c.217dup (p.Ser73fs)
|
rs33969853
|
0.00001
|
NM_000518.5(HBB):c.92+5G>C
|
rs33915217
|
0.00001
|
NM_000520.6(HEXA):c.1495C>T (p.Arg499Cys)
|
rs121907966
|
0.00001
|
NM_000520.6(HEXA):c.508C>T (p.Arg170Trp)
|
rs121907972
|
0.00001
|
NM_000530.8(MPZ):c.116A>C (p.His39Pro)
|
rs371856018
|
0.00001
|
NM_000530.8(MPZ):c.293G>A (p.Arg98His)
|
rs121913589
|
0.00001
|
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg)
|
rs281865128
|
0.00001
|
NM_000532.5(PCCB):c.942C>A (p.Tyr314Ter)
|
rs572246667
|
0.00001
|
NM_000543.5(SMPD1):c.880C>A (p.Gln294Lys)
|
rs120074128
|
0.00001
|
NM_000709.4(BCKDHA):c.1234G>A (p.Val412Met)
|
rs398123490
|
0.00001
|
NM_001005373.4(LRSAM1):c.1694del (p.Leu565fs)
|
rs749012928
|
0.00001
|
NM_001008212.2(OPTN):c.785C>A (p.Ser262Ter)
|
rs750571210
|
0.00001
|
NM_001008216.2(GALE):c.280G>A (p.Val94Met)
|
rs121908047
|
0.00001
|
NM_001009944.3(PKD1):c.5014_5015del (p.Arg1672fs)
|
rs1555455457
|
0.00001
|
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp)
|
rs752793757
|
0.00001
|
NM_001018115.3(FANCD2):c.3707G>A (p.Arg1236His)
|
rs121917786
|
0.00001
|
NM_001031710.3(KLHL7):c.565C>T (p.Arg189Ter)
|
rs943339467
|
0.00001
|
NM_001079866.2(BCS1L):c.696del (p.Gly233fs)
|
rs775388576
|
0.00001
|
NM_001080.3(ALDH5A1):c.610-2A>G
|
rs1301821497
|
0.00001
|
NM_001083116.3(PRF1):c.673C>T (p.Arg225Trp)
|
rs28933973
|
0.00001
|
NM_001111.5(ADAR):c.2433_2434del (p.Ala813fs)
|
rs779357448
|
0.00001
|
NM_001122955.4(BSCL2):c.604C>T (p.Arg202Ter)
|
rs137852970
|
0.00001
|
NM_001127178.3(PIGG):c.910C>T (p.Arg304Ter)
|
rs752545577
|
0.00001
|
NM_001159773.2(CANT1):c.898C>T (p.Arg300Cys)
|
rs267606701
|
0.00001
|
NM_001160372.4(TRAPPC9):c.367G>T (p.Glu123Ter)
|
rs587780486
|
0.00001
|
NM_001163809.2(WDR81):c.3997C>T (p.Arg1333Ter)
|
rs138358708
|
0.00001
|
NM_001163809.2(WDR81):c.5335C>T (p.Arg1779Ter)
|
rs762607878
|
0.00001
|
NM_001164508.2(NEB):c.1849del (p.Asp617fs)
|
rs755531536
|
0.00001
|
NM_001182.5(ALDH7A1):c.1489+5G>A
|
rs368820286
|
0.00001
|
NM_001184880.2(PCDH19):c.695A>G (p.Asn232Ser)
|
rs587784299
|
0.00001
|
NM_001195248.2(APTX):c.689dup (p.Glu232fs)
|
rs587776593
|
0.00001
|
NM_001195553.2(DCX):c.587G>A (p.Arg196His)
|
rs56030372
|
0.00001
|
NM_001198800.3(ASCC1):c.311-2A>G
|
rs1281256224
|
0.00001
|
NM_001201543.2(FAM161A):c.1321dup (p.His441fs)
|
rs1316281505
|
0.00001
|
NM_001242896.3(DEPDC5):c.1663C>T (p.Arg555Ter)
|
rs587776973
|
0.00001
|
NM_001242896.3(DEPDC5):c.21C>G (p.Tyr7Ter)
|
rs768241563
|
0.00001
|
NM_001253852.3(AP4B1):c.114-2A>G
|
rs879255396
|
0.00001
|
NM_001278716.2(FBXL4):c.106A>T (p.Arg36Ter)
|
rs1182326570
|
0.00001
|
NM_001329943.3(KIAA0586):c.2504_2508del (p.Leu835fs)
|
rs1410766981
|
0.00001
|
NM_001349253.2(SCN11A):c.673C>T (p.Arg225Cys)
|
rs138607170
|
0.00001
|
NM_001360.3(DHCR7):c.1138T>C (p.Cys380Arg)
|
rs373306653
|
0.00001
|
NM_001360.3(DHCR7):c.1139G>A (p.Cys380Tyr)
|
rs779709646
|
0.00001
|
NM_001360.3(DHCR7):c.1409T>A (p.Leu470Gln)
|
rs1331331095
|
0.00001
|
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu)
|
rs80338855
|
0.00001
|
NM_001360.3(DHCR7):c.841G>A (p.Val281Met)
|
rs398123607
|
0.00001
|
NM_001360.3(DHCR7):c.866C>T (p.Thr289Ile)
|
rs121909765
|
0.00001
|
NM_001365088.1(SLC12A6):c.2809C>T (p.Arg937Ter)
|
rs1057516262
|
0.00001
|
NM_001369.3(DNAH5):c.7915C>T (p.Arg2639Ter)
|
rs375053470
|
0.00001
|
NM_001370100.5(ZMYND11):c.744_745del (p.Cys249fs)
|
rs772620276
|
0.00001
|
NM_001370658.1(BTD):c.281G>T (p.Gly94Val)
|
rs375712490
|
0.00001
|
NM_001371533.1(FUT8):c.715C>T (p.Arg239Ter)
|
rs1460811017
|
0.00001
|
NM_001371596.2(MFSD8):c.1141G>T (p.Glu381Ter)
|
rs724159970
|
0.00001
|
NM_001372044.2(SHANK3):c.2455+1G>A
|
rs1396379503
|
0.00001
|
NM_001374385.1(ATP8B1):c.1993G>T (p.Glu665Ter)
|
rs515726137
|
0.00001
|
NM_001378615.1(CC2D2A):c.2848C>T (p.Arg950Ter)
|
rs118204053
|
0.00001
|
NM_001378615.1(CC2D2A):c.913C>T (p.Gln305Ter)
|
rs1158349299
|
0.00001
|
NM_001384732.1(CPLANE1):c.247G>T (p.Gly83Ter)
|
rs1554117456
|
0.00001
|
NM_001692.4(ATP6V1B1):c.340C>T (p.Arg114Ter)
|
rs782138777
|
0.00001
|
NM_001759.4(CCND2):c.814G>T (p.Glu272Ter)
|
rs1477693311
|
0.00001
|
NM_001853.4(COL9A3):c.1411C>T (p.Arg471Ter)
|
rs747896279
|
0.00001
|
NM_001876.4(CPT1A):c.1792C>T (p.Arg598Ter)
|
rs773153659
|
0.00001
|
NM_001953.5(TYMP):c.1300+1G>A
|
rs1064792878
|
0.00001
|
NM_002180.3(IGHMBP2):c.138T>A (p.Cys46Ter)
|
rs372000714
|
0.00001
|
NM_002180.3(IGHMBP2):c.1540G>A (p.Glu514Lys)
|
rs137852665
|
0.00001
|
NM_002180.3(IGHMBP2):c.439C>T (p.Arg147Ter)
|
rs1324667543
|
0.00001
|
NM_002335.4(LRP5):c.1709G>A (p.Arg570Gln)
|
rs80358312
|
0.00001
|
NM_002778.4(PSAP):c.650C>T (p.Thr217Ile)
|
rs121918103
|
0.00001
|
NM_002857.4(PEX19):c.775C>T (p.Gln259Ter)
|
rs869312934
|
0.00001
|
NM_003038.5(SLC1A4):c.1369C>T (p.Arg457Trp)
|
rs761533681
|
0.00001
|
NM_003042.4(SLC6A1):c.967G>A (p.Val323Ile)
|
rs1403165900
|
0.00001
|
NM_003119.4(SPG7):c.679C>T (p.Arg227Ter)
|
rs764791523
|
0.00001
|
NM_003384.3(VRK1):c.265C>T (p.Arg89Ter)
|
rs772263867
|
0.00001
|
NM_003721.4(RFXANK):c.438+1G>T
|
rs869312922
|
0.00001
|
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)
|
rs104894413
|
0.00001
|
NM_004004.6(GJB2):c.19C>T (p.Gln7Ter)
|
rs111033451
|
0.00001
|
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)
|
rs111033295
|
0.00001
|
NM_004268.5(MED17):c.1444C>T (p.Gln482Ter)
|
rs372622191
|
0.00001
|
NM_004453.4(ETFDH):c.413T>G (p.Leu138Arg)
|
rs779896449
|
0.00001
|
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)
|
rs112445441
|
0.00001
|
NM_005094.4(SLC27A4):c.556+2T>G
|
rs368207076
|
0.00001
|
NM_005208.5(CRYBA1):c.215+1G>A
|
rs1264025914
|
0.00001
|
NM_005506.4(SCARB2):c.1270C>T (p.Arg424Ter)
|
rs886041078
|
0.00001
|
NM_005559.4(LAMA1):c.3397C>T (p.Arg1133Ter)
|
rs767889331
|
0.00001
|
NM_005618.4(DLL1):c.2044_2045del (p.Arg682fs)
|
rs1783602877
|
0.00001
|
NM_006005.3(WFS1):c.1999C>T (p.Gln667Ter)
|
rs771409809
|
0.00001
|
NM_006031.6(PCNT):c.2728C>T (p.Gln910Ter)
|
rs869312917
|
0.00001
|
NM_006031.6(PCNT):c.3594_3598dup (p.Leu1200fs)
|
rs869312929
|
0.00001
|
NM_006059.4(LAMC3):c.1033_1039del (p.Ser345fs)
|
rs1426926688
|
0.00001
|
NM_006070.6(TFG):c.316C>T (p.Arg106Cys)
|
rs587777175
|
0.00001
|
NM_006096.4(NDRG1):c.16C>T (p.Gln6Ter)
|
rs1048918488
|
0.00001
|
NM_006279.5(ST3GAL3):c.781C>T (p.Arg261Ter)
|
rs1195818093
|
0.00001
|
NM_006432.5(NPC2):c.141C>A (p.Cys47Ter)
|
rs80358263
|
0.00001
|
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)
|
rs267607048
|
0.00001
|
NM_012233.3(RAB3GAP1):c.1471C>T (p.Arg491Ter)
|
rs752667359
|
0.00001
|
NM_014053.4(FLVCR1):c.3G>T (p.Met1Ile)
|
rs899735028
|
0.00001
|
NM_014141.6(CNTNAP2):c.2497del (p.Trp833fs)
|
rs1391540245
|
0.00001
|
NM_014243.3(ADAMTS3):c.280C>T (p.Arg94Ter)
|
rs747975445
|
0.00001
|
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)
|
rs780247476
|
0.00001
|
NM_014363.6(SACS):c.11707C>T (p.Arg3903Ter)
|
rs774906736
|
0.00001
|
NM_014363.6(SACS):c.3066del (p.Asn1025fs)
|
rs1057516767
|
0.00001
|
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp)
|
rs74315348
|
0.00001
|
NM_014780.5(CUL7):c.4717C>T (p.Arg1573Ter)
|
rs749509661
|
0.00001
|
NM_014845.6(FIG4):c.531T>G (p.Tyr177Ter)
|
rs760575768
|
0.00001
|
NM_014946.4(SPAST):c.1245+1G>A
|
rs875989878
|
0.00001
|
NM_015046.7(SETX):c.4087C>T (p.Arg1363Ter)
|
rs121434376
|
0.00001
|
NM_015338.6(ASXL1):c.1117C>T (p.Gln373Ter)
|
rs1427299519
|
0.00001
|
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs)
|
rs551541795
|
0.00001
|
NM_015937.6(PIGT):c.1079G>T (p.Gly360Val)
|
rs1277383877
|
0.00001
|
NM_016156.6(MTMR2):c.1090C>T (p.Arg364Ter)
|
rs776757548
|
0.00001
|
NM_016194.4(GNB5):c.368C>T (p.Ser123Leu)
|
rs761399728
|
0.00001
|
NM_016222.4(DDX41):c.268C>T (p.Gln90Ter)
|
rs199675507
|
0.00001
|
NM_016239.4(MYO15A):c.10045C>T (p.Gln3349Ter)
|
rs1345580310
|
0.00001
|
NM_016335.6(PRODH):c.1236C>A (p.Tyr412Ter)
|
rs772562722
|
0.00001
|
NM_017547.4(FOXRED1):c.1054C>T (p.Arg352Trp)
|
rs387907087
|
0.00001
|
NM_017547.4(FOXRED1):c.1102C>T (p.Gln368Ter)
|
rs1555066709
|
0.00001
|
NM_017613.4(DONSON):c.1282C>T (p.Gln428Ter)
|
rs993687029
|
0.00001
|
NM_017613.4(DONSON):c.1324C>T (p.Arg442Ter)
|
rs753648048
|
0.00001
|
NM_017617.5(NOTCH1):c.166C>T (p.Arg56Ter)
|
rs1348892740
|
0.00001
|
NM_017646.6(TRIT1):c.968G>A (p.Arg323Gln)
|
rs1047420796
|
0.00001
|
NM_017866.6(TMEM70):c.238C>T (p.Arg80Ter)
|
rs387907070
|
0.00001
|
NM_018127.7(ELAC2):c.1444G>T (p.Glu482Ter)
|
rs763770476
|
0.00001
|
NM_018238.4(AGK):c.390+1G>T
|
rs777096695
|
0.00001
|
NM_018255.4(ELP2):c.617A>G (p.His206Arg)
|
rs773432002
|
0.00001
|
NM_018297.4(NGLY1):c.1231C>T (p.Arg411Ter)
|
rs146140738
|
0.00001
|
NM_018486.3(HDAC8):c.932C>T (p.Thr311Met)
|
rs397515417
|
0.00001
|
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp)
|
rs104894078
|
0.00001
|
NM_018972.4(GDAP1):c.767A>G (p.His256Arg)
|
rs1476856429
|
0.00001
|
NM_019026.6(TMCO1):c.372C>A (p.Tyr124Ter)
|
rs1553249737
|
0.00001
|
NM_019109.5(ALG1):c.1079C>T (p.Ala360Val)
|
rs398124348
|
0.00001
|
NM_020191.4(MRPS22):c.489T>G (p.Tyr163Ter)
|
rs201337850
|
0.00001
|
NM_020320.5(RARS2):c.1156C>T (p.Arg386Ter)
|
rs199728745
|
0.00001
|
NM_020376.4(PNPLA2):c.613dup (p.Leu205fs)
|
rs796065308
|
0.00001
|
NM_020442.6(VARS2):c.1010C>T (p.Thr337Ile)
|
rs587777585
|
0.00001
|
NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter)
|
rs121908371
|
0.00001
|
NM_020632.3(ATP6V0A4):c.777del (p.Met259fs)
|
rs1445362077
|
0.00001
|
NM_020745.4(AARS2):c.2146-2A>G
|
rs368934219
|
0.00001
|
NM_021625.5(TRPV4):c.805C>T (p.Arg269Cys)
|
rs267607146
|
0.00001
|
NM_021625.5(TRPV4):c.943C>T (p.Arg315Trp)
|
rs267607143
|
0.00001
|
NM_021971.4(GMPPB):c.553C>T (p.Arg185Cys)
|
rs397509425
|
0.00001
|
NM_022041.4(GAN):c.806G>A (p.Arg269Gln)
|
rs759581558
|
0.00001
|
NM_022089.4(ATP13A2):c.1459C>T (p.Arg487Ter)
|
rs1303653650
|
0.00001
|
NM_022552.5(DNMT3A):c.2536C>T (p.Gln846Ter)
|
rs781139634
|
0.00001
|
NM_024312.5(GNPTAB):c.613C>T (p.Gln205Ter)
|
rs1953327287
|
0.00001
|
NM_024339.5(THOC6):c.259C>T (p.Arg87Ter)
|
rs763344375
|
0.00001
|
NM_024426.6(WT1):c.1120C>T (p.Arg374Ter)
|
rs1423753702
|
0.00001
|
NM_024592.5(SRD5A3):c.603G>A (p.Trp201Ter)
|
rs765191836
|
0.00001
|
NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter)
|
rs745656125
|
0.00001
|
NM_024989.4(PGAP1):c.2357_2358insTA (p.Arg786fs)
|
rs767774867
|
0.00001
|
NM_025137.4(SPG11):c.4307_4308del (p.Gln1436fs)
|
rs312262759
|
0.00001
|
NM_025137.4(SPG11):c.4790G>A (p.Trp1597Ter)
|
rs753920931
|
0.00001
|
NM_025137.4(SPG11):c.6856C>T (p.Arg2286Ter)
|
rs312262785
|
0.00001
|
NM_030653.4(DDX11):c.223C>T (p.Arg75Ter)
|
rs781413815
|
0.00001
|
NM_032756.4(HPDL):c.94C>T (p.Gln32Ter)
|
rs752764598
|
0.00001
|
NM_032856.5(WDR73):c.626G>A (p.Trp209Ter)
|
rs1896432430
|
0.00001
|
NM_033409.4(SLC52A3):c.550G>T (p.Glu184Ter)
|
rs890871342
|
0.00001
|
NM_052867.4(NALCN):c.2203C>T (p.Arg735Ter)
|
rs757674263
|
0.00001
|
NM_052867.4(NALCN):c.2563C>T (p.Arg855Ter)
|
rs376152742
|
0.00001
|
NM_057175.5(NAA15):c.239_240del (p.His80fs)
|
rs779009256
|
0.00001
|
NM_057175.5(NAA15):c.382C>T (p.Arg128Ter)
|
rs1274633498
|
0.00001
|
NM_080916.3(DGUOK):c.679G>A (p.Glu227Lys)
|
rs104893632
|
0.00001
|
NM_133443.4(GPT2):c.70C>T (p.Gln24Ter)
|
rs1437184398
|
0.00001
|
NM_152564.5(VPS13B):c.2911C>T (p.Arg971Ter)
|
rs120074152
|
0.00001
|
NM_152564.5(VPS13B):c.3984G>A (p.Trp1328Ter)
|
rs1156390688
|
0.00001
|
NM_152564.5(VPS13B):c.5011C>T (p.Arg1671Ter)
|
rs386834093
|
0.00001
|
NM_152564.5(VPS13B):c.6125T>A (p.Leu2042Ter)
|
rs371364257
|
0.00001
|
NM_152743.4(BRAT1):c.803+1G>C
|
rs869312931
|
0.00001
|
NM_153006.3(NAGS):c.1025del (p.Arg342fs)
|
rs730880266
|
0.00001
|
NM_170784.3(MKKS):c.251_252del (p.His84fs)
|
rs756259125
|
0.00001
|
NM_170784.3(MKKS):c.415C>T (p.Arg139Ter)
|
rs142394051
|
0.00001
|
NM_174916.3(UBR1):c.3055C>T (p.Arg1019Ter)
|
rs267604210
|
0.00001
|
NM_198252.3(GSN):c.487G>A (p.Asp163Asn)
|
rs121909715
|
0.00001
|
NM_201525.4(ADGRG1):c.286C>T (p.Arg96Ter)
|
rs146278035
|
0.00001
|
NM_206933.4(USH2A):c.99_100insT (p.Arg34fs)
|
rs141672841
|
0.00001
|
NM_213649.2(SFXN4):c.649C>T (p.Arg217Ter)
|
rs756173225
|
0.00001
|
NC_000002.12:g.27484267del
|
|
|
NM_000018.4(ACADVL):c.1244C>T (p.Ala415Val)
|
|
|
NM_000018.4(ACADVL):c.343del
|
rs387906249
|
|
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del)
|
rs769280599
|
|
NM_000019.4(ACAT1):c.757G>A (p.Asp253Asn)
|
rs869312946
|
|
NM_000027.4(AGA):c.329del (p.Asn110fs)
|
rs764357395
|
|
NM_000033.4(ABCD1):c.1073C>G (p.Ser358Ter)
|
|
|
NM_000033.4(ABCD1):c.1171_1178del (p.Leu391fs)
|
|
|
NM_000033.4(ABCD1):c.1635-2A>G
|
rs1569541109
|
|
NM_000033.4(ABCD1):c.1679C>T (p.Pro560Leu)
|
rs398123105
|
|
NM_000033.4(ABCD1):c.1866-10G>A
|
rs398123108
|
|
NM_000033.4(ABCD1):c.2014C>T (p.Gln672Ter)
|
|
|
NM_000033.4(ABCD1):c.411G>A (p.Trp137Ter)
|
rs2091706547
|
|
NM_000033.4(ABCD1):c.583C>T (p.Gln195Ter)
|
|
|
NM_000033.4(ABCD1):c.796G>A (p.Gly266Arg)
|
rs128624218
|
|
NM_000035.4(ALDOB):c.255C>G (p.Tyr85Ter)
|
rs761063847
|
|
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs)
|
rs387906225
|
|
NM_000043.6(FAS):c.717_720dup (p.Thr241fs)
|
rs1554852244
|
|
NM_000049.4(ASPA):c.211C>A (p.Arg71Ser)
|
|
|
NM_000049.4(ASPA):c.244_245del (p.Met82fs)
|
rs786204620
|
|
NM_000049.4(ASPA):c.244dup (p.Met82fs)
|
rs756198538
|
|
NM_000049.4(ASPA):c.358_361del (p.Ser120fs)
|
|
|
NM_000049.4(ASPA):c.550C>T (p.Gln184Ter)
|
rs1597439028
|
|
NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter)
|
rs12948217
|
|
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg)
|
rs72554644
|
|
NM_000052.7(ATP7A):c.31dup (p.Thr11fs)
|
rs1569549376
|
|
NM_000052.7(ATP7A):c.3799C>T (p.Gln1267Ter)
|
|
|
NM_000052.7(ATP7A):c.3946dup (p.Ile1316fs)
|
|
|
NM_000053.4(ATP7B):c.1543+1G>T
|
rs1360279134
|
|
NM_000053.4(ATP7B):c.1745_1746del (p.Ile582fs)
|
rs753962912
|
|
NM_000053.4(ATP7B):c.208C>T (p.Gln70Ter)
|
|
|
NM_000053.4(ATP7B):c.2304del (p.Met769fs)
|
rs137853287
|
|
NM_000053.4(ATP7B):c.2304dup (p.Met769fs)
|
rs137853287
|
|
NM_000053.4(ATP7B):c.2810del (p.Val937fs)
|
rs1057516643
|
|
NM_000053.4(ATP7B):c.956del (p.Pro319fs)
|
rs753674382
|
|
NM_000062.3(SERPING1):c.1360_1393del (p.Val454fs)
|
|
|
NM_000062.3(SERPING1):c.1397G>A (p.Arg466His)
|
rs121907948
|
|
NM_000062.3(SERPING1):c.51+3A>G
|
|
|
NM_000062.3(SERPING1):c.732_733dup (p.Ser245fs)
|
|
|
NM_000074.3(CD40LG):c.559del (p.Ala187fs)
|
rs1556143529
|
|
NM_000081.4(LYST):c.10062_10063del (p.Ile3354fs)
|
|
|
NM_000081.4(LYST):c.2755_2773del (p.Ser919fs)
|
|
|
NM_000082.4(ERCC8):c.577del (p.Ser193fs)
|
|
|
NM_000083.3(CLCN1):c.122del (p.Gly41fs)
|
rs1802291231
|
|
NM_000088.4(COL1A1):c.1496_1497del (p.Asp499fs)
|
rs1555573789
|
|
NM_000089.4(COL1A2):c.1208G>A (p.Gly403Asp)
|
rs1554396271
|
|
NM_000089.4(COL1A2):c.1361G>T (p.Gly454Val)
|
rs797044949
|
|
NM_000089.4(COL1A2):c.1557+3A>G
|
rs72658127
|
|
NM_000089.4(COL1A2):c.2965_2973dup (p.Pro989_Gly991dup)
|
rs1554398396
|
|
NM_000089.4(COL1A2):c.432+1G>A
|
rs1554395431
|
|
NM_000090.4(COL3A1):c.2114_2121+2del
|
rs1688402212
|
|
NM_000091.5(COL4A3):c.2497G>A (p.Gly833Ser)
|
rs2072039168
|
|
NM_000092.5(COL4A4):c.3086dup (p.Gly1030fs)
|
|
|
NM_000092.5(COL4A4):c.3909del (p.Gly1304fs)
|
|
|
NM_000092.5(COL4A4):c.3967C>T (p.Gln1323Ter)
|
rs1489351299
|
|
NM_000092.5(COL4A4):c.502del (p.Glu168fs)
|
|
|
NM_000092.5(COL4A4):c.868A>T (p.Lys290Ter)
|
|
|
NM_000094.4(COL7A1):c.6007G>A (p.Gly2003Arg)
|
rs121912832
|
|
NM_000094.4(COL7A1):c.6527dup (p.Gly2177fs)
|
rs768128088
|
|
NM_000094.4(COL7A1):c.6724G>C (p.Gly2242Arg)
|
rs121912837
|
|
NM_000094.4(COL7A1):c.7984-2del
|
rs2043665261
|
|
NM_000100.4(CSTB):c.218_219del (p.Leu73fs)
|
rs796943858
|
|
NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del)
|
rs80358233
|
|
NM_000122.2(ERCC3):c.1273C>T (p.Arg425Ter)
|
rs121913047
|
|
NM_000123.4(ERCC5):c.1358_1359del (p.Ser453fs)
|
rs1468211891
|
|
NM_000124.4(ERCC6):c.2952_2953del (p.Asn984fs)
|
rs1590406503
|
|
NM_000124.4(ERCC6):c.488_494del (p.Thr163fs)
|
rs1554794342
|
|
NM_000127.3(EXT1):c.1018C>T (p.Arg340Cys)
|
rs119103290
|
|
NM_000127.3(EXT1):c.1587G>A (p.Trp529Ter)
|
rs763608530
|
|
NM_000135.4(FANCA):c.462T>A (p.Tyr154Ter)
|
|
|
NM_000138.5(FBN1):c.1238_1239insAG (p.Pro414fs)
|
rs2043800325
|
|
NM_000138.5(FBN1):c.7006G>T (p.Glu2336Ter)
|
rs1199524458
|
|
NM_000138.5(FBN1):c.8206dup (p.Thr2736fs)
|
rs1555393647
|
|
NM_000141.5(FGFR2):c.1061C>G (p.Ser354Cys)
|
rs121918490
|
|
NM_000141.5(FGFR2):c.1141T>G (p.Tyr381Asp)
|
rs387906678
|
|
NM_000142.5(FGFR3):c.1138G>A (p.Gly380Arg)
|
rs28931614
|
|
NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu)
|
rs28931615
|
|
NM_000142.5(FGFR3):c.1620C>G (p.Asn540Lys)
|
rs28933068
|
|
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)
|
rs4647924
|
|
NM_000147.5(FUCA1):c.1164T>G (p.Tyr388Ter)
|
|
|
NM_000151.4(G6PC1):c.262del (p.Val88fs)
|
rs755612674
|
|
NM_000152.5(GAA):c.1692del (p.Leu565fs)
|
rs1555601234
|
|
NM_000155.2(GALT):c.-119_-116delGTCA
|
rs111033640
|
|
NM_000156.6(GAMT):c.24del (p.Ile9fs)
|
rs967689898
|
|
NM_000156.6(GAMT):c.299_311dup (p.Arg105fs)
|
rs80338736
|
|
NM_000156.6(GAMT):c.442C>T (p.Gln148Ter)
|
|
|
NM_000156.6(GAMT):c.491G>A (p.Gly164Asp)
|
rs760101382
|
|
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys)
|
rs80338672
|
|
NM_000159.4(GCDH):c.636G>A (p.Trp212Ter)
|
|
|
NM_000161.3(GCH1):c.631_632del (p.Met211fs)
|
rs886039379
|
|
NM_000165.5(GJA1):c.460A>G (p.Thr154Ala)
|
|
|
NM_000166.6(GJB1):c.394_395del (p.Trp132fs)
|
rs1555937168
|
|
NM_000166.6(GJB1):c.44G>A (p.Arg15Gln)
|
rs863224974
|
|
NM_000166.6(GJB1):c.450del (p.Met150fs)
|
|
|
NM_000166.6(GJB1):c.548G>A (p.Arg183His)
|
rs1555937233
|
|
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys)
|
rs116840821
|
|
NM_000166.6(GJB1):c.622G>A (p.Glu208Lys)
|
rs1555937270
|
|
NM_000166.6(GJB1):c.64C>T (p.Arg22Ter)
|
rs1555937020
|
|
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter)
|
rs104894814
|
|
NM_000166.6(GJB1):c.65G>A (p.Arg22Gln)
|
rs1060501002
|
|
NM_000168.6(GLI3):c.1999C>T (p.Arg667Ter)
|
rs781422192
|
|
NM_000168.6(GLI3):c.2709_2763del (p.Arg905fs)
|
rs1787181000
|
|
NM_000168.6(GLI3):c.2773C>T (p.Gln925Ter)
|
rs1787180396
|
|
NM_000170.3(GLDC):c.1326T>A (p.Cys442Ter)
|
|
|
NM_000180.4(GUCY2D):c.849C>G (p.Tyr283Ter)
|
rs143745703
|
|
NM_000181.4(GUSB):c.1583G>A (p.Trp528Ter)
|
|
|
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter)
|
rs137852775
|
|
NM_000191.3(HMGCL):c.505_506del (p.Ser169fs)
|
rs764264834
|
|
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs)
|
rs281865163
|
|
NM_000197.2(HSD17B3):c.608C>T (p.Ala203Val)
|
rs119481076
|
|
NM_000199.5(SGSH):c.1027dup (p.Leu343fs)
|
rs778700037
|
|
NM_000199.5(SGSH):c.1426del (p.His476fs)
|
rs2041597805
|
|
NM_000202.8(IDS):c.186_240+98del
|
|
|
NM_000202.8(IDS):c.257C>T (p.Pro86Leu)
|
rs1557340280
|
|
NM_000202.8(IDS):c.514C>T (p.Arg172Ter)
|
rs104894860
|
|
NM_000202.8(IDS):c.632del (p.Lys211fs)
|
|
|
NM_000202.8(IDS):c.701_705delinsG (p.Arg233_Tyr234insTer)
|
|
|
NM_000203.5(IDUA):c.1898C>G (p.Ser633Trp)
|
rs886043347
|
|
NM_000203.5(IDUA):c.876del (p.Asp292fs)
|
rs1553917209
|
|
NM_000206.3(IL2RG):c.664C>T (p.Arg222Cys)
|
rs111033618
|
|
NM_000214.3(JAG1):c.2129dup (p.Asp710fs)
|
rs2067300184
|
|
NM_000214.3(JAG1):c.3140C>A (p.Ser1047Ter)
|
rs267605834
|
|
NM_000216.4(ANOS1):c.90_100dup (p.Arg34fs)
|
rs1555904596
|
|
NM_000217.3(KCNA1):c.1202C>T (p.Ala401Val)
|
rs797044929
|
|
NM_000217.3(KCNA1):c.520G>T (p.Val174Phe)
|
rs104894349
|
|
NM_000243.3(MEFV):c.2040G>C (p.Met680Ile)
|
rs28940580
|
|
NM_000260.4(MYO7A):c.1623dup (p.Lys542fs)
|
rs782077721
|
|
NM_000263.4(NAGLU):c.112C>T (p.Arg38Trp)
|
|
|
NM_000263.4(NAGLU):c.886del (p.Leu296fs)
|
rs752131463
|
|
NM_000264.5(PTCH1):c.1579C>T (p.Gln527Ter)
|
rs1554698260
|
|
NM_000264.5(PTCH1):c.2105_2106del (p.Pro702fs)
|
rs1840290349
|
|
NM_000264.5(PTCH1):c.234G>A (p.Trp78Ter)
|
rs1554708787
|
|
NM_000264.5(PTCH1):c.2460C>A (p.Tyr820Ter)
|
rs766227557
|
|
NM_000264.5(PTCH1):c.3107T>A (p.Leu1036Ter)
|
rs1554691359
|
|
NM_000271.5(NPC1):c.1819C>T (p.Arg607Ter)
|
rs377130051
|
|
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys)
|
rs745777805
|
|
NM_000271.5(NPC1):c.2847G>A (p.Trp949Ter)
|
rs2145370569
|
|
NM_000273.3(GPR143):c.13C>T (p.Arg5Cys)
|
rs62635289
|
|
NM_000273.3(GPR143):c.768-1G>A
|
rs1555914303
|
|
NM_000275.3(OCA2):c.131del (p.Gly44fs)
|
rs780625433
|
|
NM_000275.3(OCA2):c.2323G>C (p.Gly775Arg)
|
rs774822330
|
|
NM_000277.3(PAH):c.355C>T (p.Pro119Ser)
|
rs398123292
|
|
NM_000277.3(PAH):c.527G>T (p.Arg176Leu)
|
rs74486803
|
|
NM_000277.3(PAH):c.592_613del (p.Tyr198fs)
|
rs199475697
|
|
NM_000277.3(PAH):c.722G>A (p.Arg241His)
|
rs62508730
|
|
NM_000278.5(PAX2):c.890C>G (p.Ser297Ter)
|
rs1554865146
|
|
NM_000282.4(PCCA):c.866_867del (p.Glu289fs)
|
rs760976198
|
|
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)
|
rs606231189
|
|
NM_000284.4(PDHA1):c.1159_1162dup (p.Ser388Ter)
|
rs863224156
|
|
NM_000284.4(PDHA1):c.735A>C (p.Arg245Ser)
|
rs1555934376
|
|
NM_000284.4(PDHA1):c.832-1G>A
|
rs1555934843
|
|
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys)
|
rs137853252
|
|
NM_000284.4(PDHA1):c.948_964dup (p.Asp322fs)
|
rs2063232730
|
|
NM_000284.4(PDHA1):c.966_970del (p.Arg323fs)
|
|
|
NM_000286.3(PEX12):c.888_889del (p.Leu297fs)
|
rs398123301
|
|
NM_000287.4(PEX6):c.2082del (p.Gly695fs)
|
rs766483138
|
|
NM_000287.4(PEX6):c.2663G>T (p.Arg888Leu)
|
rs267608247
|
|
NM_000292.3(PHKA2):c.884G>A (p.Arg295His)
|
rs797044877
|
|
NM_000294.3(PHKG2):c.671_672delinsAA (p.Phe224Ter)
|
rs1555467557
|
|
NM_000297.4(PKD2):c.1094+3_1094+6del
|
rs1553925470
|
|
NM_000297.4(PKD2):c.1960C>T (p.Arg654Ter)
|
rs146396414
|
|
NM_000297.4(PKD2):c.196_199dup (p.Pro67fs)
|
rs1726231891
|
|
NM_000297.4(PKD2):c.2159dup (p.Asn720fs)
|
rs757757289
|
|
NM_000297.4(PKD2):c.538dup (p.Leu180fs)
|
rs1371793191
|
|
NM_000303.3(PMM2):c.414del (p.Glu139fs)
|
rs755008774
|
|
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg)
|
rs80338708
|
|
NM_000303.3(PMM2):c.710C>T (p.Thr237Met)
|
rs80338708
|
|
NM_000303.3(PMM2):c.95_96delinsGC (p.Leu32Arg)
|
rs398123312
|
|
NM_000304.4(PMP22):c.215C>T (p.Ser72Leu)
|
rs104894621
|
|
NM_000304.4(PMP22):c.36C>A (p.His12Gln)
|
rs104894622
|
|
NM_000306.4(POU1F1):c.427C>T (p.Arg143Ter)
|
|
|
NM_000308.4(CTSA):c.990del (p.Cys331fs)
|
|
|
NM_000311.5(PRNP):c.314C>T (p.Pro105Leu)
|
rs11538758
|
|
NM_000311.5(PRNP):c.350C>T (p.Ala117Val)
|
rs74315402
|
|
NM_000314.8(PTEN):c.164+1_164+5del
|
rs1859100502
|
|
NM_000325.6(PITX2):c.448_449del (p.Arg150fs)
|
rs2110432091
|
|
NM_000334.4(SCN4A):c.1173del (p.Phe392fs)
|
rs1235665641
|
|
NM_000334.4(SCN4A):c.3472C>T (p.Pro1158Ser)
|
rs121908555
|
|
NM_000342.4(SLC4A1):c.1766G>A (p.Arg589His)
|
rs121912744
|
|
NM_000346.4(SOX9):c.227C>A (p.Ala76Glu)
|
rs137853128
|
|
NM_000346.4(SOX9):c.331G>A (p.Ala111Thr)
|
rs1425166755
|
|
NM_000350.3(ABCA4):c.1302del (p.Gln437fs)
|
rs1448468321
|
|
NM_000350.3(ABCA4):c.6166A>T (p.Lys2056Ter)
|
rs61750644
|
|
NM_000352.6(ABCC8):c.1630+1G>A
|
|
|
NM_000352.6(ABCC8):c.1634del (p.Phe545fs)
|
rs1260178539
|
|
NM_000352.6(ABCC8):c.622G>T (p.Glu208Ter)
|
|
|
NM_000355.4(TCN2):c.562C>T (p.Gln188Ter)
|
rs1456983114
|
|
NM_000360.4(TH):c.672C>G (p.Tyr224Ter)
|
rs1554923218
|
|
NM_000369.5(TSHR):c.1657G>A (p.Ala553Thr)
|
rs121908872
|
|
NM_000372.5(TYR):c.929dup (p.Arg311fs)
|
rs281865527
|
|
NM_000377.3(WAS):c.777+1G>A
|
rs1057517845
|
|
NM_000380.4(XPA):c.288del (p.Val97fs)
|
|
|
NM_000381.4(MID1):c.1222G>T (p.Glu408Ter)
|
|
|
NM_000381.4(MID1):c.1546_1547del (p.Thr518_Pro519insTer)
|
rs1569268029
|
|
NM_000388.4(CASR):c.384C>A (p.Phe128Leu)
|
rs1553766262
|
|
NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp)
|
rs750428882
|
|
NM_000391.4(TPP1):c.1497del (p.Gly501fs)
|
rs1554901523
|
|
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter)
|
rs202189057
|
|
NM_000391.4(TPP1):c.509-1G>A
|
rs56144125
|
|
NM_000392.5(ABCC2):c.1891del (p.Cys631fs)
|
|
|
NM_000392.5(ABCC2):c.4239_4240dup (p.His1414fs)
|
rs762346634
|
|
NM_000394.4(CRYAA):c.346C>A (p.Arg116Ser)
|
rs74315439
|
|
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs)
|
rs587778271
|
|
NM_000414.4(HSD17B4):c.707T>A (p.Leu236Ter)
|
|
|
NM_000426.4(LAMA2):c.1490_1491del (p.Asp496_Cys497insTer)
|
|
|
NM_000426.4(LAMA2):c.3752dup (p.Lys1252fs)
|
rs1554269855
|
|
NM_000426.4(LAMA2):c.8244+1G>T
|
rs749522728
|
|
NM_000426.4(LAMA2):c.951_952insCT (p.Cys318fs)
|
rs1554227092
|
|
NM_000430.4(PAFAH1B1):c.703_704del (p.Glu235fs)
|
rs797045865
|
|
NM_000440.3(PDE6A):c.1268del (p.Ser422_Leu423insTer)
|
rs1456336365
|
|
NM_000463.3(UGT1A1):c.353dup (p.Asp119fs)
|
rs748219743
|
|
NM_000463.3(UGT1A1):c.625C>T (p.Arg209Trp)
|
rs72551343
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
NM_000487.6(ARSA):c.418dup (p.His140fs)
|
rs745884435
|
|
NM_000489.6(ATRX):c.109C>T (p.Arg37Ter)
|
rs122445108
|
|
NM_000489.6(ATRX):c.6003G>A (p.Trp2001Ter)
|
rs1557082399
|
|
NM_000489.6(ATRX):c.659G>A (p.Cys220Tyr)
|
rs122445111
|
|
NM_000489.6(ATRX):c.736C>T (p.Arg246Cys)
|
rs122445105
|
|
NM_000492.3(CFTR):c.1210-12T[5]
|
rs1805177
|
|
NM_000492.4(CFTR):c.2052dup (p.Gln685fs)
|
rs121908746
|
|
NM_000494.4(COL17A1):c.340del (p.Ser114fs)
|
|
|
NM_000500.9(CYP21A2):c.293-13C>G
|
rs6467
|
|
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)
|
rs6471
|
|
NM_000501.4(ELN):c.800-3C>G
|
rs397516433
|
|
NM_000503.6(EYA1):c.1081C>T (p.Arg361Ter)
|
rs121909202
|
|
NM_000503.6(EYA1):c.880C>T (p.Arg294Ter)
|
rs1816578250
|
|
NM_000512.5(GALNS):c.122T>A (p.Met41Lys)
|
rs1555523411
|
|
NM_000516.7(GNAS):c.103C>T (p.Gln35Ter)
|
rs2089386059
|
|
NM_000516.7(GNAS):c.140-1G>C
|
|
|
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter)
|
rs797045046
|
|
NM_000516.7(GNAS):c.432+1G>A
|
rs1555889131
|
|
NM_000516.7(GNAS):c.484T>C (p.Cys162Arg)
|
|
|
NM_000516.7(GNAS):c.565_568del (p.Asp189fs)
|
rs587776829
|
|
NM_000516.7(GNAS):c.691C>T (p.Arg231Cys)
|
rs1601162438
|
|
NM_000516.7(GNAS):c.772C>T (p.Arg258Trp)
|
rs137854535
|
|
NM_000518.4(HBB):c.316-149_*342delinsAAGTAGA
|
rs1847513733
|
|
NM_000518.5(HBB):c.126_129del (p.Phe42fs)
|
rs80356821
|
|
NM_000518.5(HBB):c.190C>T (p.His64Tyr)
|
rs33922873
|
|
NM_000518.5(HBB):c.92+1G>T
|
rs33971440
|
|
NM_000518.5(HBB):c.93-22_95del
|
rs193922563
|
|
NM_000520.6(HEXA):c.346+1G>T
|
rs797044432
|
|
NM_000520.6(HEXA):c.912CTT[1] (p.Phe305del)
|
rs121907960
|
|
NM_000521.4(HEXB):c.1509-26G>A
|
rs201580118
|
|
NM_000528.4(MAN2B1):c.2212del (p.Glu738fs)
|
rs1555706706
|
|
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)
|
rs80338680
|
|
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe)
|
rs121913598
|
|
NM_000530.8(MPZ):c.181dup (p.Asp61fs)
|
|
|
NM_000530.8(MPZ):c.301dup (p.Trp101fs)
|
|
|
NM_000530.8(MPZ):c.302G>A (p.Trp101Ter)
|
rs1017715903
|
|
NM_000530.8(MPZ):c.303G>A (p.Trp101Ter)
|
rs1558154149
|
|
NM_000530.8(MPZ):c.371C>T (p.Thr124Met)
|
rs121913595
|
|
NM_000530.8(MPZ):c.380G>C (p.Cys127Ser)
|
rs797044941
|
|
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs)
|
rs1553259643
|
|
NM_000530.8(MPZ):c.462C>A (p.Tyr154Ter)
|
rs1571818312
|
|
NM_000531.6(OTC):c.179C>G (p.Ser60Ter)
|
|
|
NM_000531.6(OTC):c.622G>A (p.Ala208Thr)
|
rs72558416
|
|
NM_000531.6(OTC):c.958C>T (p.Arg320Ter)
|
rs72558473
|
|
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs)
|
rs397507445
|
|
NM_000532.5(PCCB):c.1534C>T (p.Arg512Cys)
|
rs186710233
|
|
NM_000533.5(PLP1):c.2T>C (p.Met1Thr)
|
rs864622194
|
|
NM_000533.5(PLP1):c.2T>G (p.Met1Arg)
|
rs864622194
|
|
NM_000533.5(PLP1):c.354_355del (p.Gly120fs)
|
rs1556267123
|
|
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu)
|
rs794728696
|
|
NM_000540.3(RYR1):c.7522C>T (p.Arg2508Cys)
|
rs118192178
|
|
NM_000548.5(TSC2):c.1372C>T (p.Arg458Ter)
|
rs45517169
|
|
NM_000552.5(VWF):c.1533+1G>T
|
rs1555198839
|
|
NM_000552.5(VWF):c.3231dup (p.Glu1078fs)
|
|
|
NM_000612.6(IGF2):c.100G>C (p.Gly34Arg)
|
|
|
NM_000642.3(AGL):c.1000dup (p.Thr334fs)
|
rs1553185302
|
|
NM_000642.3(AGL):c.2036del (p.Lys679fs)
|
rs2100759432
|
|
NM_000660.7(TGFB1):c.653G>A (p.Arg218His)
|
rs104894720
|
|
NM_000702.4(ATP1A2):c.1127C>T (p.Thr376Met)
|
rs121918620
|
|
NM_000702.4(ATP1A2):c.1778G>A (p.Arg593Gln)
|
rs1553245178
|
|
NM_000702.4(ATP1A2):c.879C>G (p.Ile293Met)
|
rs1553244746
|
|
NM_000709.4(BCKDHA):c.117dup (p.Arg40fs)
|
rs398123489
|
|
NM_000709.4(BCKDHA):c.568C>T (p.Gln190Ter)
|
|
|
NM_000719.7(CACNA1C):c.3497T>C (p.Ile1166Thr)
|
rs797044881
|
|
NM_000744.7(CHRNA4):c.851C>T (p.Ser284Leu)
|
rs28931591
|
|
NM_000748.3(CHRNB2):c.859G>A (p.Val287Met)
|
rs74315291
|
|
NM_000785.4(CYP27B1):c.1319_1325dup (p.Phe443fs)
|
rs780950819
|
|
NM_000787.4(DBH):c.382C>T (p.Gln128Ter)
|
|
|
NM_000808.4(GABRA3):c.1421A>G (p.Tyr474Cys)
|
rs1936960785
|
|
NM_000834.5(GRIN2B):c.1382G>T (p.Cys461Phe)
|
rs1949427787
|
|
NM_000834.5(GRIN2B):c.1916C>T (p.Ala639Val)
|
rs797044930
|
|
NM_000834.5(GRIN2B):c.2011-32_2014del
|
rs1948714266
|
|
NM_000834.5(GRIN2B):c.2249_2250dup (p.Ile751fs)
|
|
|
NM_000834.5(GRIN2B):c.2458G>A (p.Gly820Arg)
|
rs1555103150
|
|
NM_000834.5(GRIN2B):c.2459G>C (p.Gly820Ala)
|
rs797044849
|
|
NM_000834.5(GRIN2B):c.2607C>A (p.Tyr869Ter)
|
|
|
NM_000834.5(GRIN2B):c.99del (p.Ser34fs)
|
|
|
NM_000875.5(IGF1R):c.1030del (p.Val344fs)
|
|
|
NM_000875.5(IGF1R):c.1931A>G (p.Tyr644Cys)
|
rs1555460702
|
|
NM_000875.5(IGF1R):c.2904del (p.Asn969fs)
|
rs1555463008
|
|
NM_000875.5(IGF1R):c.3348_3366dup (p.Met1123fs)
|
rs1322503729
|
|
NM_000921.5(PDE3A):c.1339G>A (p.Ala447Thr)
|
rs794726866
|
|
NM_000939.4(POMC):c.20_21insGGGCCCTCGGGGGCCCCTCGGGTGG (p.Ser7fs)
|
rs746815510
|
|
NM_000944.5(PPP3CA):c.275A>G (p.His92Arg)
|
rs1553925558
|
|
NM_000965.5(RARB):c.1159C>T (p.Arg387Cys)
|
rs397518483
|
|
NM_000969.5(RPL5):c.41del (p.Lys14fs)
|
rs1686991727
|
|
NM_001001563.5(TIMM50):c.805G>A (p.Gly269Ser)
|
rs797044891
|
|
NM_001002295.2(GATA3):c.587del (p.Leu196fs)
|
rs1554794844
|
|
NM_001003694.2(BRPF1):c.1363C>T (p.Arg455Ter)
|
rs1057519510
|
|
NM_001003694.2(BRPF1):c.1414del (p.Glu472fs)
|
rs2077000019
|
|
NM_001003694.2(BRPF1):c.1745G>A (p.Trp582Ter)
|
|
|
NM_001003694.2(BRPF1):c.2072dup (p.Tyr691Ter)
|
|
|
NM_001003694.2(BRPF1):c.2308_2309del (p.Asp770fs)
|
rs1553696275
|
|
NM_001003694.2(BRPF1):c.2430_2451delinsTCTGGCATC (p.Arg811fs)
|
|
|
NM_001003694.2(BRPF1):c.2812dup (p.Gln938fs)
|
rs762904815
|
|
NM_001003694.2(BRPF1):c.28_29del (p.Phe10fs)
|
rs1553693712
|
|
NM_001003694.2(BRPF1):c.751C>T (p.Arg251Ter)
|
rs2125500187
|
|
NM_001003694.2(BRPF1):c.883_884del (p.Met295fs)
|
|
|
NM_001003694.2(BRPF1):c.917del (p.Gly306fs)
|
rs2076991221
|
|
NM_001003800.2(BICD2):c.1636_1638del (p.Asn546del)
|
rs1064795760
|
|
NM_001005273.3(CHD3):c.1618dup (p.Arg540fs)
|
|
|
NM_001005273.3(CHD3):c.2896C>T (p.Arg966Trp)
|
rs1064795892
|
|
NM_001005273.3(CHD3):c.3505C>T (p.Arg1169Trp)
|
rs1567861468
|
|
NM_001005373.4(LRSAM1):c.1267G>T (p.Glu423Ter)
|
|
|
NM_001005373.4(LRSAM1):c.2093_2104del (p.Gln698_Gln701del)
|
rs1554763017
|
|
NM_001005373.4(LRSAM1):c.831del (p.Gln278fs)
|
|
|
NM_001005388.3(NFASC):c.2579_2580del (p.Leu860fs)
|
|
|
NM_001008212.2(OPTN):c.1003C>T (p.Gln335Ter)
|
|
|
NM_001008212.2(OPTN):c.76del (p.His26fs)
|
rs753966040
|
|
NM_001008537.3(NEXMIF):c.1050dup (p.Lys351Ter)
|
rs2080115006
|
|
NM_001008537.3(NEXMIF):c.1518_1522del (p.Arg507fs)
|
rs1556016642
|
|
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter)
|
rs786205208
|
|
NM_001008537.3(NEXMIF):c.4152dup (p.Ser1385fs)
|
rs2080098372
|
|
NM_001009944.3(PKD1):c.10541dup (p.Arg3515fs)
|
rs2151710347
|
|
NM_001009944.3(PKD1):c.10745dup (p.Val3584fs)
|
rs1555447011
|
|
NM_001009944.3(PKD1):c.11299_11342del (p.Val3767fs)
|
|
|
NM_001009944.3(PKD1):c.11526G>A (p.Trp3842Ter)
|
|
|
NM_001009944.3(PKD1):c.11626_11653del (p.Ala3876fs)
|
|
|
NM_001009944.3(PKD1):c.11778dup (p.Arg3927fs)
|
|
|
NM_001009944.3(PKD1):c.12035G>A (p.Trp4012Ter)
|
rs777269070
|
|
NM_001009944.3(PKD1):c.12365G>A (p.Trp4122Ter)
|
rs2091438383
|
|
NM_001009944.3(PKD1):c.12673C>T (p.Gln4225Ter)
|
rs2091395464
|
|
NM_001009944.3(PKD1):c.1944dup (p.Gly649fs)
|
|
|
NM_001009944.3(PKD1):c.2152C>T (p.Gln718Ter)
|
rs1555458032
|
|
NM_001009944.3(PKD1):c.235del (p.Leu79fs)
|
|
|
NM_001009944.3(PKD1):c.2414del (p.Gly805fs)
|
|
|
NM_001009944.3(PKD1):c.2854-2A>G
|
rs1555457488
|
|
NM_001009944.3(PKD1):c.3706C>T (p.Gln1236Ter)
|
|
|
NM_001009944.3(PKD1):c.412C>T (p.Arg138Ter)
|
rs1596591955
|
|
NM_001009944.3(PKD1):c.4795dup (p.Tyr1599fs)
|
|
|
NM_001009944.3(PKD1):c.5510G>A (p.Trp1837Ter)
|
rs2092450284
|
|
NM_001009944.3(PKD1):c.6115C>T (p.Gln2039Ter)
|
rs755747732
|
|
NM_001009944.3(PKD1):c.6312_6318dup (p.Glu2107delinsHisArgTer)
|
|
|
NM_001009944.3(PKD1):c.670_691del (p.Leu224fs)
|
|
|
NM_001009944.3(PKD1):c.7126C>T (p.Gln2376Ter)
|
rs1555453395
|
|
NM_001009944.3(PKD1):c.7138G>T (p.Glu2380Ter)
|
|
|
NM_001009944.3(PKD1):c.7597_7598del (p.Ser2533fs)
|
|
|
NM_001009944.3(PKD1):c.7921C>T (p.Gln2641Ter)
|
rs764840802
|
|
NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter)
|
rs757768731
|
|
NM_001009944.3(PKD1):c.8428G>T (p.Glu2810Ter)
|
|
|
NM_001009944.3(PKD1):c.9195_9196del (p.Phe3066fs)
|
|
|
NM_001009944.3(PKD1):c.9340C>T (p.Gln3114Ter)
|
|
|
NM_001009944.3(PKD1):c.9561CAA[1] (p.Asn3188del)
|
rs869312944
|
|
NM_001009944.3(PKD1):c.9584G>A (p.Trp3195Ter)
|
|
|
NM_001011658.4(TRAPPC2):c.93+5G>A
|
rs587776752
|
|
NM_001012339.3(DNAJC21):c.100A>G (p.Lys34Glu)
|
rs1561180439
|
|
NM_001012614.2(CTBP1):c.991C>T (p.Arg331Trp)
|
rs869320802
|
|
NM_001015877.2(PHF6):c.241-5_255del
|
|
|
NM_001015877.2(PHF6):c.673C>T (p.Arg225Ter)
|
rs1556018932
|
|
NM_001015877.2(PHF6):c.820C>T (p.Arg274Ter)
|
rs1556019107
|
|
NM_001015877.2(PHF6):c.915_916delinsAA (p.Cys305_Gly306delinsTer)
|
rs797044908
|
|
NM_001017420.3(ESCO2):c.166_170del (p.Val56fs)
|
rs750842366
|
|
NM_001017980.4(VMA21):c.163+4A>G
|
rs797044909
|
|
NM_001018115.3(FANCD2):c.1449del (p.Ser483fs)
|
rs2087129514
|
|
NM_001018115.3(FANCD2):c.2465T>A (p.Leu822Ter)
|
|
|
NM_001020658.2(PUM1):c.2500G>T (p.Glu834Ter)
|
|
|
NM_001020658.2(PUM1):c.962_965dup (p.Ala323fs)
|
|
|
NM_001024630.4(RUNX2):c.1379dup (p.Asp463fs)
|
rs1582232661
|
|
NM_001024630.4(RUNX2):c.823del (p.Ser275fs)
|
|
|
NM_001029896.2(WDR45):c.139C>T (p.Gln47Ter)
|
rs2065046104
|
|
NM_001029896.2(WDR45):c.139dup (p.Gln47fs)
|
rs2065046125
|
|
NM_001029896.2(WDR45):c.14del (p.Pro5fs)
|
|
|
NM_001029896.2(WDR45):c.180del (p.Asn61fs)
|
rs2065045769
|
|
NM_001029896.2(WDR45):c.19C>T (p.Arg7Ter)
|
rs886041382
|
|
NM_001029896.2(WDR45):c.235+2T>C
|
rs1602540211
|
|
NM_001029896.2(WDR45):c.408dup (p.Glu137Ter)
|
rs1557084239
|
|
NM_001029896.2(WDR45):c.46C>T (p.Gln16Ter)
|
rs1557084549
|
|
NM_001029896.2(WDR45):c.508C>T (p.Gln170Ter)
|
rs1557084120
|
|
NM_001029896.2(WDR45):c.697C>T (p.Arg233Ter)
|
rs387907329
|
|
NM_001029896.2(WDR45):c.879_880del (p.Gln294fs)
|
|
|
NM_001031710.3(KLHL7):c.598_601del (p.Leu199_Thr200insTer)
|
rs1784160131
|
|
NM_001032221.6(STXBP1):c.1006C>T (p.Gln336Ter)
|
rs1057519501
|
|
NM_001032221.6(STXBP1):c.1110G>A (p.Gln370=)
|
rs1554778227
|
|
NM_001032221.6(STXBP1):c.1162C>T (p.Arg388Ter)
|
rs121918321
|
|
NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys)
|
rs796053367
|
|
NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His)
|
rs886041246
|
|
NM_001032221.6(STXBP1):c.1304del (p.Glu435fs)
|
|
|
NM_001032221.6(STXBP1):c.1359+2T>C
|
rs1554778509
|
|
NM_001032221.6(STXBP1):c.1419C>A (p.Tyr473Ter)
|
|
|
NM_001032221.6(STXBP1):c.1439C>T (p.Pro480Leu)
|
rs796053368
|
|
NM_001032221.6(STXBP1):c.1593C>A (p.Tyr531Ter)
|
rs767199598
|
|
NM_001032221.6(STXBP1):c.1631del (p.Gly544fs)
|
rs1554778941
|
|
NM_001032221.6(STXBP1):c.298del (p.Arg100fs)
|
rs1554776842
|
|
NM_001032221.6(STXBP1):c.539G>A (p.Cys180Tyr)
|
rs121918318
|
|
NM_001032221.6(STXBP1):c.639dup (p.Ala214fs)
|
rs1554777375
|
|
NM_001032221.6(STXBP1):c.792C>A (p.Tyr264Ter)
|
rs1841291684
|
|
NM_001032221.6(STXBP1):c.874C>T (p.Arg292Cys)
|
rs786205598
|
|
NM_001032221.6(STXBP1):c.875G>A (p.Arg292His)
|
rs796053361
|
|
NM_001032221.6(STXBP1):c.875G>T (p.Arg292Leu)
|
rs796053361
|
|
NM_001032221.6(STXBP1):c.956del (p.Gly319fs)
|
rs1554777919
|
|
NM_001032221.6(STXBP1):c.989dup (p.Met330fs)
|
rs1841564743
|
|
NM_001032382.2(PQBP1):c.459_462del (p.Arg153fs)
|
rs606231193
|
|
NM_001032386.2(SUOX):c.423del (p.Val142fs)
|
|
|
NM_001032386.2(SUOX):c.842_843del (p.Leu281fs)
|
rs748900391
|
|
NM_001034850.3(RETREG1):c.18_19del (p.Pro7fs)
|
rs137852736
|
|
NM_001034850.3(RETREG1):c.44_71del (p.Pro15fs)
|
rs2126388556
|
|
NM_001034852.3(SMOC1):c.809G>A (p.Trp270Ter)
|
|
|
NM_001035256.2(POMC):c.20_21ins25
|
|
|
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys)
|
rs1131692231
|
|
NM_001039570.3(KREMEN1):c.357del (p.Gly120fs)
|
|
|
NM_001039591.3(USP9X):c.1763+1G>A
|
rs1555922391
|
|
NM_001039591.3(USP9X):c.1957G>T (p.Glu653Ter)
|
|
|
NM_001039591.3(USP9X):c.5634dup (p.His1879fs)
|
rs2063210388
|
|
NM_001039591.3(USP9X):c.6611del (p.Thr2204fs)
|
rs2063281419
|
|
NM_001039591.3(USP9X):c.82dup (p.Leu28fs)
|
rs758083405
|
|
NM_001039591.3(USP9X):c.982_983del (p.Thr327_Val328insTer)
|
rs2062419468
|
|
NM_001039672.3(YIF1B):c.186dup (p.Ala63fs)
|
rs1969221767
|
|
NM_001040142.2(SCN2A):c.1094C>T (p.Thr365Met)
|
|
|
NM_001040142.2(SCN2A):c.1530_1531del (p.Lys511fs)
|
rs1697702086
|
|
NM_001040142.2(SCN2A):c.1819C>T (p.Arg607Ter)
|
rs746060762
|
|
NM_001040142.2(SCN2A):c.1831_1832del (p.Leu611fs)
|
rs1698166561
|
|
NM_001040142.2(SCN2A):c.1890_1891del (p.Ala631fs)
|
rs1698169832
|
|
NM_001040142.2(SCN2A):c.2356C>T (p.Gln786Ter)
|
rs1553574733
|
|
NM_001040142.2(SCN2A):c.2388+1dup
|
|
|
NM_001040142.2(SCN2A):c.2504T>G (p.Leu835Ter)
|
rs1699364897
|
|
NM_001040142.2(SCN2A):c.2645G>A (p.Gly882Glu)
|
rs1553579305
|
|
NM_001040142.2(SCN2A):c.3067_3068del (p.Glu1023fs)
|
rs1553583712
|
|
NM_001040142.2(SCN2A):c.3190_3230dup (p.Ile1078fs)
|
|
|
NM_001040142.2(SCN2A):c.386+2T>C
|
rs1553564400
|
|
NM_001040142.2(SCN2A):c.4303C>T (p.Arg1435Ter)
|
rs796053138
|
|
NM_001040142.2(SCN2A):c.4407del (p.Ile1469fs)
|
|
|
NM_001040142.2(SCN2A):c.4648del (p.Val1550fs)
|
|
|
NM_001040142.2(SCN2A):c.4752del (p.Leu1585fs)
|
|
|
NM_001040142.2(SCN2A):c.4886G>A (p.Arg1629His)
|
|
|
NM_001040142.2(SCN2A):c.4967C>T (p.Ser1656Phe)
|
rs1553463464
|
|
NM_001040142.2(SCN2A):c.4980_4983del (p.Phe1661fs)
|
rs1558885691
|
|
NM_001040142.2(SCN2A):c.5308A>T (p.Met1770Leu)
|
rs1553463594
|
|
NM_001040142.2(SCN2A):c.5318C>T (p.Ala1773Val)
|
rs1553463602
|
|
NM_001040142.2(SCN2A):c.802C>T (p.Gln268Ter)
|
rs1553567936
|
|
NM_001040142.2(SCN2A):c.823C>T (p.Arg275Ter)
|
rs181327458
|
|
NM_001042424.3(NSD2):c.814G>T (p.Glu272Ter)
|
rs1719469952
|
|
NM_001042432.2(CLN3):c.265C>T (p.Arg89Ter)
|
rs386833713
|
|
NM_001042432.2(CLN3):c.954_962+18del
|
rs386833741
|
|
NM_001042432.2(CLN3):c.954dup (p.Tyr319fs)
|
|
|
NM_001042432.2(CLN3):c.992_993del (p.Phe331fs)
|
rs2046109345
|
|
NM_001042492.3(NF1):c.1722C>G (p.Ser574Arg)
|
rs2144015494
|
|
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg)
|
rs199474760
|
|
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs)
|
rs786202782
|
|
NM_001042492.3(NF1):c.3721C>T (p.Arg1241Ter)
|
rs137854562
|
|
NM_001042492.3(NF1):c.3739_3742del (p.Phe1247fs)
|
rs1064794276
|
|
NM_001042492.3(NF1):c.3814C>T (p.Gln1272Ter)
|
rs2067188361
|
|
NM_001042492.3(NF1):c.4729C>T (p.Gln1577Ter)
|
rs797044942
|
|
NM_001042492.3(NF1):c.499_502del (p.Cys167fs)
|
rs786201874
|
|
NM_001042492.3(NF1):c.5609G>A (p.Arg1870Gln)
|
rs786202112
|
|
NM_001042492.3(NF1):c.5619dup (p.Tyr1874fs)
|
rs1555533842
|
|
NM_001042492.3(NF1):c.5835T>A (p.Cys1945Ter)
|
rs1555534380
|
|
NM_001042492.3(NF1):c.6915_6916dup (p.Asn2306fs)
|
rs1555535052
|
|
NM_001042646.3(TRAK1):c.1412_1413del (p.Glu471fs)
|
rs1553608726
|
|
NM_001042681.2(RERE):c.1920del (p.Ser641fs)
|
rs1553155778
|
|
NM_001042681.2(RERE):c.3586C>T (p.Arg1196Ter)
|
rs1641481122
|
|
NM_001042750.2(STAG2):c.2924+2_2924+11del
|
rs2058961860
|
|
NM_001046.3(SLC12A2):c.3312del (p.Phe1104fs)
|
|
|
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)
|
rs398124245
|
|
NM_001077365.2(POMT1):c.633C>A (p.Tyr211Ter)
|
|
|
NM_001079668.3(NKX2-1):c.170_182del (p.Val57fs)
|
rs1881225977
|
|
NM_001079668.3(NKX2-1):c.613G>T (p.Glu205Ter)
|
rs137852693
|
|
NM_001079668.3(NKX2-1):c.617T>A (p.Leu206Gln)
|
rs1555349221
|
|
NM_001079668.3(NKX2-1):c.646del (p.Leu216fs)
|
rs1555349214
|
|
NM_001079668.3(NKX2-1):c.818_825del (p.Gly273fs)
|
rs1555349184
|
|
NM_001079668.3(NKX2-1):c.921_930del (p.Gly308fs)
|
rs1555349160
|
|
NM_001079866.2(BCS1L):c.418del (p.Leu140fs)
|
rs1057517412
|
|
NM_001079866.2(BCS1L):c.785_786del (p.Leu261_Ser262insTer)
|
rs1553597538
|
|
NM_001079872.2(CUL4B):c.1165G>T (p.Glu389Ter)
|
rs1556213001
|
|
NM_001079872.2(CUL4B):c.721C>T (p.Gln241Ter)
|
rs1556220623
|
|
NM_001080.3(ALDH5A1):c.781C>T (p.Arg261Ter)
|
|
|
NM_001080442.3(SLC38A8):c.1002del (p.Ser336fs)
|
rs587777255
|
|
NM_001080453.3(INTS1):c.2197del (p.Leu733fs)
|
|
|
NM_001080453.3(INTS1):c.789dup (p.Arg264fs)
|
|
|
NM_001080510.5(METTL23):c.169_172del (p.His57fs)
|
rs587777644
|
|
NM_001080510.5(METTL23):c.174_177del (p.Cys58fs)
|
rs746453662
|
|
NM_001080510.5(METTL23):c.178del (p.Glu60fs)
|
rs1382444181
|
|
NM_001080517.3(SETD5):c.1783-2A>T
|
rs797044953
|
|
NM_001080517.3(SETD5):c.1801del (p.Lys600_Leu601insTer)
|
rs2042181751
|
|
NM_001080517.3(SETD5):c.1915C>T (p.Gln639Ter)
|
rs2042191502
|
|
NM_001080517.3(SETD5):c.2003C>G (p.Ser668Ter)
|
|
|
NM_001080517.3(SETD5):c.2347-7A>G
|
rs886041593
|
|
NM_001080517.3(SETD5):c.2474dup (p.Asp826fs)
|
|
|
NM_001080517.3(SETD5):c.3001C>T (p.Arg1001Ter)
|
|
|
NM_001080517.3(SETD5):c.3214C>T (p.Arg1072Ter)
|
rs2045524028
|
|
NM_001080517.3(SETD5):c.3257del (p.Gly1086fs)
|
|
|
NM_001080517.3(SETD5):c.3855dup (p.Ser1286fs)
|
rs1553641476
|
|
NM_001080522.2(CC2D2A):c.3289delG
|
rs386833751
|
|
NM_001081.4(CUBN):c.5573del (p.Gly1858fs)
|
rs1842591499
|
|
NM_001082971.2(DDC):c.128del (p.Pro43fs)
|
|
|
NM_001082971.2(DDC):c.19C>T (p.Arg7Ter)
|
rs138828136
|
|
NM_001083116.3(PRF1):c.1432del (p.Pro477_Leu478insTer)
|
|
|
NM_001083116.3(PRF1):c.844AAG[3] (p.Lys285del)
|
rs745902829
|
|
NM_001083961.2(WDR62):c.2575C>T (p.Gln859Ter)
|
rs1006898944
|
|
NM_001083961.2(WDR62):c.3124G>T (p.Gly1042Ter)
|
|
|
NM_001083962.2(TCF4):c.1142_1143del (p.Ser381fs)
|
|
|
NM_001083962.2(TCF4):c.1267_1268del (p.Gly423fs)
|
rs1555764170
|
|
NM_001083962.2(TCF4):c.1304C>G (p.Ser435Ter)
|
rs1555763998
|
|
NM_001083962.2(TCF4):c.1399_1403del (p.Leu467fs)
|
|
|
NM_001083962.2(TCF4):c.1551dup (p.Glu518fs)
|
|
|
NM_001083962.2(TCF4):c.1726C>T (p.Arg576Ter)
|
rs1555710726
|
|
NM_001083962.2(TCF4):c.1727G>A (p.Arg576Gln)
|
rs1057521070
|
|
NM_001083962.2(TCF4):c.1738C>T (p.Arg580Trp)
|
rs121909120
|
|
NM_001083962.2(TCF4):c.1876C>T (p.Arg626Ter)
|
rs1131691735
|
|
NM_001083962.2(TCF4):c.469del (p.Arg157fs)
|
rs1569138023
|
|
NM_001083962.2(TCF4):c.505C>T (p.Gln169Ter)
|
|
|
NM_001083962.2(TCF4):c.624del (p.Ser209fs)
|
rs2062118353
|
|
NM_001083962.2(TCF4):c.633_634insAAAA (p.Pro212fs)
|
|
|
NM_001083962.2(TCF4):c.673del (p.Asp225fs)
|
rs1555797248
|
|
NM_001083962.2(TCF4):c.680G>A (p.Trp227Ter)
|
rs1555797231
|
|
NM_001083962.2(TCF4):c.931G>T (p.Gly311Ter)
|
rs1555778204
|
|
NM_001098.3(ACO2):c.2105_2106del (p.Gln702fs)
|
rs1555890974
|
|
NM_001099857.5(IKBKG):c.187+1G>A
|
|
|
NM_001099922.3(ALG13):c.320A>G (p.Asn107Ser)
|
rs398122394
|
|
NM_001100.4(ACTA1):c.868G>C (p.Asp290His)
|
rs1553255354
|
|
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)
|
rs1555408401
|
|
NM_001101.5(ACTB):c.259C>G (p.His87Asp)
|
rs1554329552
|
|
NM_001101.5(ACTB):c.547C>T (p.Arg183Trp)
|
rs104894003
|
|
NM_001101.5(ACTB):c.587G>A (p.Arg196His)
|
rs281875334
|
|
NM_001101.5(ACTB):c.625G>A (p.Val209Met)
|
rs587779777
|
|
NM_001101.5(ACTB):c.987_990dup (p.Ala331fs)
|
rs1784799235
|
|
NM_001110556.2(FLNA):c.521G>A (p.Gly174Asp)
|
rs1557179659
|
|
NM_001110792.2(MECP2):c.1095_1226delinsACTCTGAGTGGTGGTGATGGTGGT (p.Arg366_Glu409delinsLeuTer)
|
|
|
NM_001110792.2(MECP2):c.1122dup (p.Lys375fs)
|
rs587783092
|
|
NM_001110792.2(MECP2):c.1143_1192delinsCCCCCG (p.His382fs)
|
|
|
NM_001110792.2(MECP2):c.1165_1264del (p.Lys389fs)
|
|
|
NM_001110792.2(MECP2):c.1188_1191del (p.Pro397fs)
|
rs267608576
|
|
NM_001110792.2(MECP2):c.1189_*1302delinsTCCCG (p.Pro397fs)
|
|
|
NM_001110792.2(MECP2):c.1197_1252del (p.Pro400fs)
|
|
|
NM_001110792.2(MECP2):c.1198_1199delinsTA (p.Pro400Ter)
|
rs267608597
|
|
NM_001110792.2(MECP2):c.1199_1224del (p.Pro400fs)
|
rs267608600
|
|
NM_001110792.2(MECP2):c.1200_1243del (p.Pro400_Pro401insTer)
|
rs61752992
|
|
NM_001110792.2(MECP2):c.1203_1231del (p.Pro402fs)
|
|
|
NM_001110792.2(MECP2):c.1209_1243del (p.Pro403_Glu404insTer)
|
rs2148659508
|
|
NM_001110792.2(MECP2):c.352C>T (p.Arg118Trp)
|
rs28934907
|
|
NM_001110792.2(MECP2):c.433C>T (p.Arg145Cys)
|
rs28934904
|
|
NM_001110792.2(MECP2):c.437C>G (p.Ser146Cys)
|
rs61748390
|
|
NM_001110792.2(MECP2):c.455C>T (p.Ala152Val)
|
rs28934908
|
|
NM_001110792.2(MECP2):c.459C>G (p.Tyr153Ter)
|
rs61748396
|
|
NM_001110792.2(MECP2):c.47_57dup (p.Arg20fs)
|
rs786205042
|
|
NM_001110792.2(MECP2):c.48C>T (p.Gly16=)
|
rs786205045
|
|
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg)
|
rs61748404
|
|
NM_001110792.2(MECP2):c.503A>G (p.Asp168Gly)
|
rs61748407
|
|
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met)
|
rs28934906
|
|
NM_001110792.2(MECP2):c.535C>T (p.Arg179Trp)
|
rs61748420
|
|
NM_001110792.2(MECP2):c.538C>T (p.Arg180Ter)
|
rs61748421
|
|
NM_001110792.2(MECP2):c.647C>G (p.Ser216Ter)
|
rs61749724
|
|
NM_001110792.2(MECP2):c.648dup (p.Glu217fs)
|
rs1557136758
|
|
NM_001110792.2(MECP2):c.744_751del (p.Gly249fs)
|
rs2065947222
|
|
NM_001110792.2(MECP2):c.746del (p.Gly249fs)
|
rs61749743
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.842del (p.Gly281fs)
|
rs61750241
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
NM_001110792.2(MECP2):c.892_895del (p.Lys298fs)
|
rs61750256
|
|
NM_001110792.2(MECP2):c.908dup (p.Ser304fs)
|
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001110792.2(MECP2):c.91C>T (p.Gln31Ter)
|
rs61754425
|
|
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
|
rs28935468
|
|
NM_001111.5(ADAR):c.2885+2T>C
|
rs1696919284
|
|
NM_001111.5(ADAR):c.3255_3256del (p.Asp1087fs)
|
|
|
NM_001111.5(ADAR):c.3286C>T (p.Arg1096Ter)
|
rs769148365
|
|
NM_001111067.4(ACVR1):c.617G>A (p.Arg206His)
|
rs121912678
|
|
NM_001111067.4(ACVR1):c.983G>A (p.Gly328Glu)
|
rs387906589
|
|
NM_001111125.3(IQSEC2):c.2052_2053del (p.Cys684_Glu685delinsTer)
|
rs797044889
|
|
NM_001111125.3(IQSEC2):c.2078del (p.Gly693fs)
|
|
|
NM_001111125.3(IQSEC2):c.2563C>T (p.Arg855Ter)
|
rs587777261
|
|
NM_001111125.3(IQSEC2):c.2582G>C (p.Ser861Thr)
|
rs797044932
|
|
NM_001111125.3(IQSEC2):c.321_322del (p.Phe107fs)
|
|
|
NM_001111125.3(IQSEC2):c.804del (p.Tyr269fs)
|
rs886041481
|
|
NM_001111125.3(IQSEC2):c.848dup (p.Ala286fs)
|
rs782660318
|
|
NM_001111125.3(IQSEC2):c.880C>T (p.Gln294Ter)
|
|
|
NM_001113491.2(SEPTIN9):c.316C>T (p.Arg106Trp)
|
rs80338761
|
|
NM_001122630.2(CDKN1C):c.787G>A (p.Asp263Asn)
|
rs387907225
|
|
NM_001122769.3(LCA5):c.838C>T (p.Arg280Ter)
|
rs866395428
|
|
NM_001123385.2(BCOR):c.2428C>T (p.Arg810Ter)
|
rs1555918056
|
|
NM_001123385.2(BCOR):c.3883_3884del (p.Leu1296fs)
|
rs886042842
|
|
NM_001126108.2(SLC12A3):c.2533del (p.Leu845fs)
|
rs754378340
|
|
NM_001126108.2(SLC12A3):c.852+1G>A
|
rs2055084531
|
|
NM_001127178.3(PIGG):c.1087C>T (p.Gln363Ter)
|
|
|
NM_001127222.2(CACNA1A):c.1634dup (p.Tyr545Ter)
|
rs1568523843
|
|
NM_001127222.2(CACNA1A):c.1912C>T (p.Gln638Ter)
|
rs1555758842
|
|
NM_001127222.2(CACNA1A):c.1922del (p.Phe641fs)
|
rs1568518139
|
|
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)
|
rs121908212
|
|
NM_001127222.2(CACNA1A):c.2039_2040del (p.Gln680fs)
|
rs1064794262
|
|
NM_001127222.2(CACNA1A):c.2524G>T (p.Glu842Ter)
|
rs767534576
|
|
NM_001127222.2(CACNA1A):c.2785_2786insT (p.His929fs)
|
rs1555756091
|
|
NM_001127222.2(CACNA1A):c.2806C>T (p.Gln936Ter)
|
rs1318353774
|
|
NM_001127222.2(CACNA1A):c.3103dup (p.Ser1035fs)
|
rs1131691712
|
|
NM_001127222.2(CACNA1A):c.3590_3593del (p.Lys1197fs)
|
rs2057373332
|
|
NM_001127222.2(CACNA1A):c.3822+1G>A
|
rs794727355
|
|
NM_001127222.2(CACNA1A):c.3979_3983delinsCCACTTCACTTA (p.Phe1327fs)
|
|
|
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)
|
rs1057520918
|
|
NM_001127222.2(CACNA1A):c.4051C>T (p.Arg1351Ter)
|
rs1568473171
|
|
NM_001127222.2(CACNA1A):c.4052G>A (p.Arg1351Gln)
|
rs1555745467
|
|
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.5529-1212_5529-1211del
|
rs1431092862
|
|
NM_001127222.2(CACNA1A):c.5884del (p.Met1962fs)
|
|
|
NM_001127222.2(CACNA1A):c.6368del (p.Arg2123fs)
|
rs1555730902
|
|
NM_001127222.2(CACNA1A):c.835C>T (p.Arg279Cys)
|
rs1555773764
|
|
NM_001127392.3(MYRF):c.1207C>T (p.Gln403Ter)
|
|
|
NM_001127392.3(MYRF):c.2041del (p.Ala681fs)
|
rs2066476444
|
|
NM_001127392.3(MYRF):c.2358_2359del (p.Tyr787fs)
|
rs2066505057
|
|
NM_001127644.2(GABRA1):c.146T>A (p.Leu49His)
|
|
|
NM_001127644.2(GABRA1):c.335G>A (p.Arg112Gln)
|
rs587777308
|
|
NM_001127898.4(CLCN5):c.1374del (p.Phe459fs)
|
rs1557194018
|
|
NM_001127898.4(CLCN5):c.328del (p.Ser110fs)
|
rs1933254254
|
|
NM_001128.6(AP1G1):c.2080C>T (p.Gln694Ter)
|
|
|
NM_001128126.3(AP4S1):c.138+3_138+6del
|
rs876661295
|
|
NM_001128126.3(AP4S1):c.229G>T (p.Glu77Ter)
|
rs568176223
|
|
NM_001128178.3(NPHP1):c.483del (p.Asp162fs)
|
rs1410236296
|
|
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs)
|
rs766524637
|
|
NM_001128840.3(CACNA1D):c.3964C>T (p.Arg1322Ter)
|
|
|
NM_001130021.3(ATP6V0A1):c.2219G>A (p.Arg740Gln)
|
rs1567871600
|
|
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])
|
rs587784440
|
|
NM_001134407.3(GRIN2A):c.1509del (p.Gln503fs)
|
|
|
NM_001134407.3(GRIN2A):c.1532C>A (p.Ser511Ter)
|
|
|
NM_001134407.3(GRIN2A):c.1841A>G (p.Asn614Ser)
|
rs869312916
|
|
NM_001134407.3(GRIN2A):c.2143del (p.Asp715fs)
|
rs2042301516
|
|
NM_001134407.3(GRIN2A):c.96dup (p.Ala33fs)
|
rs1555491538
|
|
NM_001134665.3(TRMT10A):c.616G>A (p.Gly206Arg)
|
rs587777744
|
|
NM_001134673.4(NFIA):c.1076-1G>A
|
rs1553182933
|
|
NM_001134673.4(NFIA):c.1145_1148del (p.Tyr382fs)
|
rs1553182964
|
|
NM_001134673.4(NFIA):c.307dup (p.Cys103fs)
|
rs1553149206
|
|
NM_001134673.4(NFIA):c.374_375del (p.Lys125fs)
|
rs1646260006
|
|
NM_001134831.2(AHI1):c.1420del (p.Ile474fs)
|
rs1369440486
|
|
NM_001135629.3(PPP1R21):c.415G>T (p.Glu139Ter)
|
|
|
NM_001136035.4(TRMT1):c.1110dup (p.Lys371fs)
|
|
|
NM_001136035.4(TRMT1):c.619C>T (p.Gln207Ter)
|
|
|
NM_001136139.4(TCF3):c.1663G>A (p.Glu555Lys)
|
rs879255271
|
|
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser)
|
rs104894519
|
|
NM_001142864.4(PIEZO1):c.4275_4278del (p.Ser1425fs)
|
rs1904304634
|
|
NM_001145358.2(SIN3A):c.1363del (p.Ala455fs)
|
|
|
NM_001145358.2(SIN3A):c.1576del (p.Glu526fs)
|
rs2073399686
|
|
NM_001145358.2(SIN3A):c.1657C>T (p.Arg553Ter)
|
rs1555444885
|
|
NM_001145358.2(SIN3A):c.2478_2479del (p.Gln827fs)
|
rs1555443682
|
|
NM_001145358.2(SIN3A):c.2925_2928dup (p.Ser977fs)
|
rs2073161466
|
|
NM_001145358.2(SIN3A):c.2937T>A (p.Tyr979Ter)
|
|
|
NM_001145358.2(SIN3A):c.3314dup (p.Tyr1105Ter)
|
|
|
NM_001145358.2(SIN3A):c.346C>T (p.Gln116Ter)
|
rs2073858956
|
|
NM_001145358.2(SIN3A):c.3481_3482delinsT (p.Ser1161fs)
|
|
|
NM_001145860.2(POP1):c.1195dup (p.Ile399fs)
|
|
|
NM_001148.6(ANK2):c.10924C>T (p.Arg3642Ter)
|
rs757033443
|
|
NM_001148.6(ANK2):c.3019C>T (p.Arg1007Ter)
|
rs2092061253
|
|
NM_001151.4(SLC25A4):c.239G>A (p.Arg80His)
|
rs886041081
|
|
NM_001160372.4(TRAPPC9):c.2729del (p.Val910fs)
|
rs1837435094
|
|
NM_001162501.2(TNRC6B):c.1813C>T (p.Gln605Ter)
|
|
|
NM_001162501.2(TNRC6B):c.2137C>T (p.Arg713Ter)
|
rs1191287768
|
|
NM_001162501.2(TNRC6B):c.2247G>A (p.Trp749Ter)
|
rs200598254
|
|
NM_001162501.2(TNRC6B):c.3811C>T (p.Gln1271Ter)
|
rs2071009325
|
|
NM_001162501.2(TNRC6B):c.4120+1G>T
|
|
|
NM_001163435.3(TBCK):c.1731C>G (p.Tyr577Ter)
|
|
|
NM_001163435.3(TBCK):c.2091dup (p.Ile698fs)
|
rs1750971659
|
|
NM_001164508.2(NEB):c.24665_24666del (p.Asn8221_Phe8222insTer)
|
rs794727136
|
|
NM_001164508.2(NEB):c.8470dup (p.Ala2824fs)
|
|
|
NM_001165963.4(SCN1A):c.1027G>C (p.Gly343Arg)
|
|
|
NM_001165963.4(SCN1A):c.1118T>A (p.Leu373Ter)
|
rs1553547448
|
|
NM_001165963.4(SCN1A):c.1134_1147dup (p.Phe383Ter)
|
rs1698001843
|
|
NM_001165963.4(SCN1A):c.1200_1202del (p.Met400del)
|
|
|
NM_001165963.4(SCN1A):c.1273del (p.Ala425fs)
|
rs1553546836
|
|
NM_001165963.4(SCN1A):c.1624C>T (p.Arg542Ter)
|
|
|
NM_001165963.4(SCN1A):c.1702C>T (p.Arg568Ter)
|
rs886039430
|
|
NM_001165963.4(SCN1A):c.2134C>T (p.Arg712Ter)
|
rs794726730
|
|
NM_001165963.4(SCN1A):c.2580_2584del (p.Phe861fs)
|
|
|
NM_001165963.4(SCN1A):c.2872dup (p.Asp958fs)
|
|
|
NM_001165963.4(SCN1A):c.3217dup (p.Leu1073fs)
|
|
|
NM_001165963.4(SCN1A):c.3292del (p.Asp1098fs)
|
rs1553540213
|
|
NM_001165963.4(SCN1A):c.3358G>T (p.Gly1120Ter)
|
|
|
NM_001165963.4(SCN1A):c.3615G>A (p.Trp1205Ter)
|
rs794726720
|
|
NM_001165963.4(SCN1A):c.3637C>T (p.Arg1213Ter)
|
rs794726710
|
|
NM_001165963.4(SCN1A):c.3706-1G>A
|
|
|
NM_001165963.4(SCN1A):c.3733C>T (p.Arg1245Ter)
|
rs727504136
|
|
NM_001165963.4(SCN1A):c.3813G>A (p.Trp1271Ter)
|
|
|
NM_001165963.4(SCN1A):c.383+1A>G
|
rs794726803
|
|
NM_001165963.4(SCN1A):c.3985C>T (p.Arg1329Ter)
|
rs796053004
|
|
NM_001165963.4(SCN1A):c.4013A>C (p.Asn1338Thr)
|
rs797044952
|
|
NM_001165963.4(SCN1A):c.4219C>T (p.Arg1407Ter)
|
rs398123593
|
|
NM_001165963.4(SCN1A):c.4301G>A (p.Trp1434Ter)
|
rs1559122263
|
|
NM_001165963.4(SCN1A):c.4338+1G>C
|
rs1553523138
|
|
NM_001165963.4(SCN1A):c.4384T>C (p.Tyr1462His)
|
rs1559119345
|
|
NM_001165963.4(SCN1A):c.4450_4453del (p.Asp1484fs)
|
rs1559118996
|
|
NM_001165963.4(SCN1A):c.4521C>A (p.Tyr1507Ter)
|
rs750997506
|
|
NM_001165963.4(SCN1A):c.4521C>G (p.Tyr1507Ter)
|
rs750997506
|
|
NM_001165963.4(SCN1A):c.474-2A>G
|
|
|
NM_001165963.4(SCN1A):c.4852+1G>A
|
rs1573962555
|
|
NM_001165963.4(SCN1A):c.4934G>A (p.Arg1645Gln)
|
rs121917976
|
|
NM_001165963.4(SCN1A):c.4985C>T (p.Ala1662Val)
|
rs794726839
|
|
NM_001165963.4(SCN1A):c.5479A>T (p.Lys1827Ter)
|
rs1553520105
|
|
NM_001165963.4(SCN1A):c.5536_5539del (p.Lys1846fs)
|
rs794726726
|
|
NM_001165963.4(SCN1A):c.580G>A (p.Asp194Asn)
|
rs121917935
|
|
NM_001165963.4(SCN1A):c.655dup (p.Arg219fs)
|
|
|
NM_001165963.4(SCN1A):c.664C>T (p.Arg222Ter)
|
rs121918624
|
|
NM_001165963.4(SCN1A):c.812del (p.Gly271fs)
|
rs1553549717
|
|
NM_001165963.4(SCN1A):c.962C>G (p.Ser321Ter)
|
rs2105888495
|
|
NM_001165963.4(SCN1A):c.965-1G>A
|
rs794726824
|
|
NM_001166114.2(PNPLA6):c.1211dup (p.Leu405fs)
|
rs765307463
|
|
NM_001166114.2(PNPLA6):c.3058_3061dup (p.Arg1021fs)
|
rs606231167
|
|
NM_001170629.1(CHD8):c.5053delG
|
|
|
NM_001170629.2(CHD8):c.1727C>A (p.Ser576Ter)
|
rs1888700404
|
|
NM_001170629.2(CHD8):c.2831_2835del (p.Cys944fs)
|
rs797044853
|
|
NM_001170629.2(CHD8):c.3322dup (p.Ile1108fs)
|
rs1157888951
|
|
NM_001170629.2(CHD8):c.3686C>A (p.Ser1229Ter)
|
rs1555314895
|
|
NM_001170629.2(CHD8):c.3882+1G>A
|
rs1555314736
|
|
NM_001170629.2(CHD8):c.4384C>T (p.Arg1462Ter)
|
|
|
NM_001170629.2(CHD8):c.4414C>T (p.Arg1472Ter)
|
rs991738444
|
|
NM_001170629.2(CHD8):c.463_466del (p.Ser155fs)
|
rs1555318633
|
|
NM_001170629.2(CHD8):c.4744C>T (p.Arg1582Ter)
|
rs1555314211
|
|
NM_001170629.2(CHD8):c.4984C>T (p.Arg1662Ter)
|
rs1555313934
|
|
NM_001170629.2(CHD8):c.5607dup (p.Asp1870fs)
|
rs774152851
|
|
NM_001170629.2(CHD8):c.6649C>T (p.Arg2217Ter)
|
rs1555313048
|
|
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
|
|
|
NM_001172509.2(SATB2):c.1174-1G>A
|
rs1688108762
|
|
NM_001172509.2(SATB2):c.1196del (p.Arg399fs)
|
rs1553547906
|
|
NM_001172509.2(SATB2):c.1311_1314dup (p.Arg439fs)
|
rs1559164234
|
|
NM_001172509.2(SATB2):c.1375C>T (p.Arg459Ter)
|
rs1553547838
|
|
NM_001172509.2(SATB2):c.1477C>T (p.Gln493Ter)
|
rs1687959307
|
|
NM_001172509.2(SATB2):c.1606G>T (p.Glu536Ter)
|
|
|
NM_001172509.2(SATB2):c.1728del (p.Glu577fs)
|
rs1687511235
|
|
NM_001172509.2(SATB2):c.1795G>T (p.Glu599Ter)
|
|
|
NM_001172509.2(SATB2):c.1808_1817del (p.Pro603fs)
|
rs1692192971
|
|
NM_001172509.2(SATB2):c.1825_1826dup (p.Asp609fs)
|
|
|
NM_001172509.2(SATB2):c.343C>T (p.Gln115Ter)
|
rs1559052032
|
|
NM_001172509.2(SATB2):c.808_809del (p.Gln270fs)
|
rs1553551705
|
|
NM_001172509.2(SATB2):c.847C>T (p.Arg283Ter)
|
rs797044874
|
|
NM_001172509.2(SATB2):c.868C>T (p.Gln290Ter)
|
rs1057518496
|
|
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)
|
rs201108965
|
|
NM_001174150.2(ARL13B):c.274dup (p.Val92fs)
|
|
|
NM_001182.5(ALDH7A1):c.285_286insG (p.Arg96fs)
|
rs758414053
|
|
NM_001182.5(ALDH7A1):c.947dup (p.Ser317fs)
|
rs778003597
|
|
NM_001184.4(ATR):c.5851C>T (p.Arg1951Ter)
|
rs758234545
|
|
NM_001184.4(ATR):c.6430C>T (p.Gln2144Ter)
|
|
|
NM_001184880.2(PCDH19):c.1006dup (p.Val336fs)
|
rs1555985372
|
|
NM_001184880.2(PCDH19):c.1018A>T (p.Asn340Tyr)
|
rs1555985368
|
|
NM_001184880.2(PCDH19):c.1019A>G (p.Asn340Ser)
|
rs796052839
|
|
NM_001184880.2(PCDH19):c.1091del (p.Pro364fs)
|
rs758946412
|
|
NM_001184880.2(PCDH19):c.2341dup (p.Ile781fs)
|
rs1060502175
|
|
NM_001184880.2(PCDH19):c.2656C>T (p.Arg886Ter)
|
rs756414485
|
|
NM_001184880.2(PCDH19):c.2675+1G>A
|
|
|
NM_001184880.2(PCDH19):c.372_373dup (p.Asn125fs)
|
rs1569315950
|
|
NM_001184880.2(PCDH19):c.498C>A (p.Tyr166Ter)
|
rs796052837
|
|
NM_001184880.2(PCDH19):c.582del (p.Ser195fs)
|
|
|
NM_001184880.2(PCDH19):c.768dup (p.Val257fs)
|
rs1569315508
|
|
NM_001184880.2(PCDH19):c.918C>G (p.Tyr306Ter)
|
rs1569315231
|
|
NM_001184880.2(PCDH19):c.994del (p.Val332fs)
|
rs1569315156
|
|
NM_001190274.2(FBXO11):c.592C>T (p.Arg198Ter)
|
|
|
NM_001190737.2(NFIB):c.373_376del (p.Asp125fs)
|
rs2132702633
|
|
NM_001195263.2(PDZD7):c.2089del (p.Ala697fs)
|
rs1055318738
|
|
NM_001195553.2(DCX):c.-22-345_326del
|
|
|
NM_001195553.2(DCX):c.115C>T (p.Arg39Ter)
|
rs587783519
|
|
NM_001195553.2(DCX):c.814C>T (p.Arg272Ter)
|
rs587783590
|
|
NM_001195553.2(DCX):c.871C>T (p.Gln291Ter)
|
|
|
NM_001197104.2(KMT2A):c.10754+1G>A
|
|
|
NM_001197104.2(KMT2A):c.11280del (p.Pro3760_Leu3761insTer)
|
rs1555052879
|
|
NM_001197104.2(KMT2A):c.11530dup (p.Arg3844fs)
|
rs1555053483
|
|
NM_001197104.2(KMT2A):c.134del (p.Pro45fs)
|
rs1555138529
|
|
NM_001197104.2(KMT2A):c.1522G>T (p.Glu508Ter)
|
rs781978013
|
|
NM_001197104.2(KMT2A):c.166_167insA (p.Ser56fs)
|
rs1949187852
|
|
NM_001197104.2(KMT2A):c.173del (p.Pro58fs)
|
rs1555138552
|
|
NM_001197104.2(KMT2A):c.1868del (p.Lys623fs)
|
rs797044937
|
|
NM_001197104.2(KMT2A):c.2193del (p.Ser732fs)
|
rs1555036394
|
|
NM_001197104.2(KMT2A):c.2262del (p.Ser754_Met755insTer)
|
rs1555036436
|
|
NM_001197104.2(KMT2A):c.2318del (p.Pro773fs)
|
rs782297546
|
|
NM_001197104.2(KMT2A):c.2318dup (p.Ser774fs)
|
rs782297546
|
|
NM_001197104.2(KMT2A):c.308del (p.Pro103fs)
|
rs1949193924
|
|
NM_001197104.2(KMT2A):c.3301C>T (p.Arg1101Ter)
|
rs886041856
|
|
NM_001197104.2(KMT2A):c.3373_3374del (p.Leu1125fs)
|
rs1950069134
|
|
NM_001197104.2(KMT2A):c.3451C>T (p.Arg1151Ter)
|
rs868985556
|
|
NM_001197104.2(KMT2A):c.3461G>A (p.Arg1154Gln)
|
rs1131691799
|
|
NM_001197104.2(KMT2A):c.3570-2A>G
|
rs1950106219
|
|
NM_001197104.2(KMT2A):c.3651_3652del (p.Lys1219fs)
|
rs1555039242
|
|
NM_001197104.2(KMT2A):c.3724C>T (p.Gln1242Ter)
|
rs1950137753
|
|
NM_001197104.2(KMT2A):c.3790C>T (p.Arg1264Ter)
|
rs1555039343
|
|
NM_001197104.2(KMT2A):c.3889C>T (p.Gln1297Ter)
|
|
|
NM_001197104.2(KMT2A):c.3896_3908del (p.Ser1299fs)
|
|
|
NM_001197104.2(KMT2A):c.4029del (p.Lys1343fs)
|
rs1555039606
|
|
NM_001197104.2(KMT2A):c.4331_4332dup (p.Phe1445fs)
|
rs1555040480
|
|
NM_001197104.2(KMT2A):c.4504C>T (p.Arg1502Ter)
|
rs150800017
|
|
NM_001197104.2(KMT2A):c.5251A>T (p.Lys1751Ter)
|
rs886041896
|
|
NM_001197104.2(KMT2A):c.5656del (p.Ser1886fs)
|
rs1950408951
|
|
NM_001197104.2(KMT2A):c.5665-2A>G
|
|
|
NM_001197104.2(KMT2A):c.6487C>T (p.Arg2163Ter)
|
rs1555045816
|
|
NM_001197104.2(KMT2A):c.6504del (p.Gly2169fs)
|
|
|
NM_001197104.2(KMT2A):c.7150C>T (p.Gln2384Ter)
|
rs1555046404
|
|
NM_001197104.2(KMT2A):c.7187_7191dup (p.Glu2398fs)
|
rs1555046428
|
|
NM_001197104.2(KMT2A):c.7497del (p.Val2500fs)
|
rs1555046615
|
|
NM_001197104.2(KMT2A):c.766del (p.Ile256fs)
|
rs1565278132
|
|
NM_001197104.2(KMT2A):c.7975C>T (p.Arg2659Ter)
|
rs1950540436
|
|
NM_001197104.2(KMT2A):c.835_838del (p.Ser279fs)
|
rs1949950865
|
|
NM_001197104.2(KMT2A):c.8407C>T (p.Gln2803Ter)
|
|
|
NM_001197104.2(KMT2A):c.9112_9115del (p.Val3038fs)
|
rs1555047506
|
|
NM_001198800.3(ASCC1):c.251dup (p.Glu85fs)
|
rs1856787943
|
|
NM_001199107.2(TBC1D24):c.1153C>T (p.Gln385Ter)
|
rs2065771024
|
|
NM_001199107.2(TBC1D24):c.352del (p.Leu118fs)
|
|
|
NM_001199107.2(TBC1D24):c.404del (p.Pro135fs)
|
|
|
NM_001199107.2(TBC1D24):c.475del (p.Leu159fs)
|
rs796053403
|
|
NM_001199198.3(TBC1D23):c.1029C>A (p.Cys343Ter)
|
rs761061399
|
|
NM_001202.6(BMP4):c.592C>T (p.Arg198Ter)
|
rs387906597
|
|
NM_001206999.2(CIT):c.3532C>T (p.Arg1178Ter)
|
|
|
NM_001206999.2(CIT):c.5515C>T (p.Arg1839Ter)
|
|
|
NM_001211.6(BUB1B):c.2328dup (p.Asp777fs)
|
rs767768253
|
|
NM_001220.5(CAMK2B):c.416C>T (p.Pro139Leu)
|
rs1554389088
|
|
NM_001242896.3(DEPDC5):c.1218-1G>A
|
rs2087504321
|
|
NM_001242896.3(DEPDC5):c.1310del (p.Asn437fs)
|
rs2088008490
|
|
NM_001242896.3(DEPDC5):c.1555C>T (p.Gln519Ter)
|
rs886039261
|
|
NM_001242896.3(DEPDC5):c.1964_1965del (p.Ser655fs)
|
rs1372605067
|
|
NM_001242896.3(DEPDC5):c.3155+5G>A
|
|
|
NM_001242896.3(DEPDC5):c.3994C>T (p.Arg1332Ter)
|
rs886039269
|
|
NM_001242896.3(DEPDC5):c.4287C>G (p.Tyr1429Ter)
|
rs1569232705
|
|
NM_001242896.3(DEPDC5):c.793_797del (p.Glu265fs)
|
rs1601925213
|
|
NM_001242896.3(DEPDC5):c.903del (p.Ala302fs)
|
|
|
NM_001243279.3(ACSF3):c.803del (p.Pro268fs)
|
rs767946490
|
|
NM_001244008.2(KIF1A):c.350G>T (p.Gly117Val)
|
rs1200817308
|
|
NM_001244008.2(KIF1A):c.646C>T (p.Arg216Cys)
|
rs797045164
|
|
NM_001244008.2(KIF1A):c.760C>T (p.Arg254Trp)
|
rs879253888
|
|
NM_001244008.2(KIF1A):c.799G>A (p.Glu267Lys)
|
rs1553637932
|
|
NM_001244008.2(KIF1A):c.946C>T (p.Arg316Trp)
|
rs672601370
|
|
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)
|
rs587779388
|
|
NM_001253852.3(AP4B1):c.405_409del (p.Tyr135_Arg137delinsTer)
|
rs1553259463
|
|
NM_001256012.3(MYH10):c.2815G>T (p.Glu939Ter)
|
rs797044880
|
|
NM_001256317.3(TMPRSS3):c.208del (p.His70fs)
|
rs727503493
|
|
NM_001256447.2(BCAP31):c.365_366del (p.Leu122fs)
|
rs1557047954
|
|
NM_001256627.2(BRSK2):c.1301_1307dup (p.Arg437fs)
|
|
|
NM_001256627.2(BRSK2):c.1535C>A (p.Ser512Ter)
|
|
|
NM_001256627.2(BRSK2):c.696_697del (p.Phe233fs)
|
|
|
NM_001256627.2(BRSK2):c.978-1G>C
|
|
|
NM_001257180.2(SLC20A2):c.411G>A (p.Trp137Ter)
|
|
|
NM_001257180.2(SLC20A2):c.51_54dup (p.Ile19fs)
|
rs1554561128
|
|
NM_001257293.2(HNRNPH1):c.616C>T (p.Arg206Trp)
|
rs1770718566
|
|
NM_001258392.3(CLPB):c.1066+1G>A
|
rs1555087619
|
|
NM_001258392.3(CLPB):c.1165G>T (p.Glu389Ter)
|
|
|
NM_001267550.2(TTN):c.105486del (p.Trp35162fs)
|
rs1553485330
|
|
NM_001267550.2(TTN):c.58567_58568dup (p.Lys19524fs)
|
rs1553650442
|
|
NM_001271.4(CHD2):c.1417C>T (p.Gln473Ter)
|
|
|
NM_001271.4(CHD2):c.2221del (p.Ala741fs)
|
|
|
NM_001271.4(CHD2):c.2410C>T (p.Arg804Ter)
|
|
|
NM_001271.4(CHD2):c.3787dup (p.Val1263fs)
|
rs869312877
|
|
NM_001271.4(CHD2):c.3937C>T (p.Arg1313Ter)
|
rs1555444702
|
|
NM_001271.4(CHD2):c.443+1G>A
|
rs2141755359
|
|
NM_001271.4(CHD2):c.4601G>A (p.Trp1534Ter)
|
rs1567163701
|
|
NM_001271.4(CHD2):c.4771_4772del (p.Leu1591fs)
|
rs1555445685
|
|
NM_001271.4(CHD2):c.4841dup (p.Gln1615fs)
|
rs2054437773
|
|
NM_001271.4(CHD2):c.4909C>T (p.Arg1637Ter)
|
rs864309547
|
|
NM_001271.4(CHD2):c.4971G>A (p.Trp1657Ter)
|
rs398122998
|
|
NM_001271.4(CHD2):c.5035C>T (p.Arg1679Ter)
|
rs797044912
|
|
NM_001271.4(CHD2):c.522dup (p.Val175fs)
|
|
|
NM_001271.4(CHD2):c.592C>T (p.Gln198Ter)
|
|
|
NM_001271.4(CHD2):c.613C>T (p.Gln205Ter)
|
rs2053325154
|
|
NM_001271838.2(RSRC1):c.194+1G>A
|
rs746219497
|
|
NM_001271838.2(RSRC1):c.495-2A>G
|
rs1727334508
|
|
NM_001271893.4(TWIST2):c.223G>A (p.Glu75Lys)
|
rs1553565140
|
|
NM_001272071.2(AP1S2):c.68C>G (p.Ser23Ter)
|
|
|
NM_001273.5(CHD4):c.3203G>A (p.Arg1068His)
|
rs886039915
|
|
NM_001273.5(CHD4):c.3518G>A (p.Arg1173Gln)
|
rs886039918
|
|
NM_001273.5(CHD4):c.3547C>T (p.Arg1183Cys)
|
rs2136209158
|
|
NM_001278116.2(L1CAM):c.3214C>T (p.Gln1072Ter)
|
|
|
NM_001278116.2(L1CAM):c.551G>A (p.Arg184Gln)
|
rs137852521
|
|
NM_001278716.2(FBXL4):c.397C>T (p.Gln133Ter)
|
|
|
NM_001278716.2(FBXL4):c.827del (p.Asn276fs)
|
rs1240941970
|
|
NM_001282531.3(ADNP):c.1337G>A (p.Trp446Ter)
|
rs1555810308
|
|
NM_001282531.3(ADNP):c.1620_1630dup (p.Thr544fs)
|
rs1980973531
|
|
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter)
|
rs1135401808
|
|
NM_001282531.3(ADNP):c.2157C>G (p.Tyr719Ter)
|
rs587777526
|
|
NM_001282531.3(ADNP):c.2188C>T (p.Arg730Ter)
|
rs886041116
|
|
NM_001282531.3(ADNP):c.2213C>G (p.Ser738Ter)
|
rs779340209
|
|
NM_001282531.3(ADNP):c.2287del (p.Ser763fs)
|
rs1555809919
|
|
NM_001282531.3(ADNP):c.2287dup (p.Ser763fs)
|
rs1555809919
|
|
NM_001282531.3(ADNP):c.2491_2494del (p.Leu831fs)
|
rs587777522
|
|
NM_001282531.3(ADNP):c.2496_2499del (p.Asn832fs)
|
rs587777523
|
|
NM_001282531.3(ADNP):c.2498_2499del (p.Lys833fs)
|
rs1555809836
|
|
NM_001282531.3(ADNP):c.2499del (p.Val834fs)
|
rs1555809836
|
|
NM_001282531.3(ADNP):c.331del (p.Tyr111fs)
|
rs1981170986
|
|
NM_001282531.3(ADNP):c.539_542del (p.Val180fs)
|
rs1057518345
|
|
NM_001287.6(CLCN7):c.889G>A (p.Val297Met)
|
rs769080435
|
|
NM_001287491.2(TET3):c.2234_2235del (p.Pro745fs)
|
rs1687748823
|
|
NM_001288705.3(CSF1R):c.1441C>T (p.Gln481Ter)
|
rs917027829
|
|
NM_001288705.3(CSF1R):c.554del (p.Lys185fs)
|
|
|
NM_001291415.2(KDM6A):c.1015C>T (p.Gln339Ter)
|
rs1556308480
|
|
NM_001291415.2(KDM6A):c.1711C>T (p.Arg571Ter)
|
rs397514628
|
|
NM_001291415.2(KDM6A):c.1990C>T (p.Arg664Ter)
|
rs2044403163
|
|
NM_001291415.2(KDM6A):c.2231_2232del (p.Gln744fs)
|
rs1556328723
|
|
NM_001291867.2(NHS):c.1231C>T (p.Gln411Ter)
|
rs1556038028
|
|
NM_001291867.2(NHS):c.3245del (p.Pro1082fs)
|
rs1556039406
|
|
NM_001292034.3(TAB2):c.253_254del (p.Gln85fs)
|
rs1781468348
|
|
NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter)
|
rs1479104927
|
|
NM_001303052.2(MYT1L):c.2670_2671del (p.Ser891fs)
|
|
|
NM_001303256.3(MORC2):c.260C>T (p.Ser87Leu)
|
rs864309504
|
|
NM_001303256.3(MORC2):c.754C>T (p.Arg252Trp)
|
rs864309503
|
|
NM_001303256.3(MORC2):c.79G>A (p.Glu27Lys)
|
rs1602510200
|
|
NM_001318852.2(MAPK8IP3):c.2919G>A (p.Trp973Ter)
|
rs755287045
|
|
NM_001318852.2(MAPK8IP3):c.3439C>T (p.Arg1147Cys)
|
rs1567214097
|
|
NM_001320.7(CSNK2B):c.139C>T (p.Arg47Ter)
|
rs1085307703
|
|
NM_001320.7(CSNK2B):c.245T>A (p.Leu82Ter)
|
rs1801960712
|
|
NM_001320.7(CSNK2B):c.446C>G (p.Ser149Ter)
|
|
|
NM_001320.7(CSNK2B):c.464_467del (p.Asp155fs)
|
|
|
NM_001320.7(CSNK2B):c.495_496del (p.Met166fs)
|
rs2151188957
|
|
NM_001320.7(CSNK2B):c.72+1G>A
|
rs1801761541
|
|
NM_001321075.3(DLG4):c.1240del (p.Ser414fs)
|
|
|
NM_001321075.3(DLG4):c.1546C>T (p.Arg516Ter)
|
rs778104648
|
|
NM_001321075.3(DLG4):c.193G>T (p.Glu65Ter)
|
rs2142888007
|
|
NM_001321075.3(DLG4):c.335+1G>A
|
|
|
NM_001321075.3(DLG4):c.937C>T (p.Arg313Ter)
|
|
|
NM_001323289.2(CDKL5):c.1107_1120del (p.Gly369_Asn370insTer)
|
rs1555951954
|
|
NM_001323289.2(CDKL5):c.1165C>T (p.Gln389Ter)
|
rs1569219346
|
|
NM_001323289.2(CDKL5):c.1211_1212dup (p.Leu405fs)
|
rs1555951981
|
|
NM_001323289.2(CDKL5):c.1247_1248del (p.Glu416fs)
|
rs786204967
|
|
NM_001323289.2(CDKL5):c.1813C>T (p.Gln605Ter)
|
rs1926301954
|
|
NM_001323289.2(CDKL5):c.1994_1995del (p.Lys665fs)
|
|
|
NM_001323289.2(CDKL5):c.205C>T (p.Gln69Ter)
|
|
|
NM_001323289.2(CDKL5):c.2152+1G>A
|
rs1555952732
|
|
NM_001323289.2(CDKL5):c.2216del (p.Leu739fs)
|
|
|
NM_001323289.2(CDKL5):c.2593C>T (p.Gln865Ter)
|
rs267608663
|
|
NM_001323289.2(CDKL5):c.464-2A>G
|
rs267608480
|
|
NM_001323289.2(CDKL5):c.514G>A (p.Val172Ile)
|
rs797044858
|
|
NM_001323289.2(CDKL5):c.532C>T (p.Arg178Trp)
|
rs267608493
|
|
NM_001323289.2(CDKL5):c.666del (p.Ile223fs)
|
rs1569215645
|
|
NM_001329943.3(KIAA0586):c.4133_4138delinsAA (p.Pro1378fs)
|
|
|
NM_001330078.2(NRXN1):c.2792del (p.Phe931fs)
|
rs1388095672
|
|
NM_001330260.2(SCN8A):c.1402del (p.Glu468fs)
|
|
|
NM_001330260.2(SCN8A):c.1965del (p.Gly656fs)
|
rs1352024223
|
|
NM_001330260.2(SCN8A):c.2023_2029dup (p.Gly677fs)
|
rs1565908565
|
|
NM_001330260.2(SCN8A):c.2169G>A (p.Trp723Ter)
|
|
|
NM_001330260.2(SCN8A):c.2460dup (p.Asp821Ter)
|
rs1565915356
|
|
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
|
|
|
NM_001330260.2(SCN8A):c.2936C>T (p.Ser979Phe)
|
rs1555226081
|
|
NM_001330260.2(SCN8A):c.3448C>T (p.Gln1150Ter)
|
rs1555226280
|
|
NM_001330260.2(SCN8A):c.4189_4208del (p.Asp1397fs)
|
rs1565925940
|
|
NM_001330260.2(SCN8A):c.4351G>A (p.Gly1451Ser)
|
rs863223345
|
|
NM_001330260.2(SCN8A):c.4412del (p.Lys1471fs)
|
rs1938179478
|
|
NM_001330260.2(SCN8A):c.4850G>A (p.Arg1617Gln)
|
rs587777721
|
|
NM_001330260.2(SCN8A):c.4859G>T (p.Arg1620Leu)
|
rs869312966
|
|
NM_001330260.2(SCN8A):c.4865C>A (p.Ala1622Asp)
|
rs1555230924
|
|
NM_001330311.2(DVL1):c.1579del (p.His527fs)
|
rs1553173425
|
|
NM_001346249.2(RALGAPA1):c.5455C>T (p.Gln1819Ter)
|
|
|
NM_001346754.2(PIGW):c.617_620del (p.Val206fs)
|
rs753385776
|
|
NM_001347721.2(DYRK1A):c.1003dup (p.Met335fs)
|
rs1555985620
|
|
NM_001347721.2(DYRK1A):c.1008G>A (p.Trp336Ter)
|
rs1555985642
|
|
NM_001347721.2(DYRK1A):c.1218C>G (p.Tyr406Ter)
|
|
|
NM_001347721.2(DYRK1A):c.1239del (p.Lys413fs)
|
rs1555990751
|
|
NM_001347721.2(DYRK1A):c.1275dup (p.Gly426fs)
|
rs1555990816
|
|
NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter)
|
rs724159953
|
|
NM_001347721.2(DYRK1A):c.197dup (p.Thr67fs)
|
|
|
NM_001347721.2(DYRK1A):c.262del (p.Ser88fs)
|
|
|
NM_001347721.2(DYRK1A):c.322C>T (p.Arg108Ter)
|
rs1057518204
|
|
NM_001347721.2(DYRK1A):c.425dup (p.Asn142fs)
|
rs797044523
|
|
NM_001347721.2(DYRK1A):c.489+2T>C
|
rs2052613493
|
|
NM_001347721.2(DYRK1A):c.531_532dup (p.Ile178fs)
|
rs1555982591
|
|
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter)
|
rs724159949
|
|
NM_001347721.2(DYRK1A):c.638-1G>T
|
rs2148612254
|
|
NM_001347721.2(DYRK1A):c.658_659del (p.Met220fs)
|
rs1555984102
|
|
NM_001347721.2(DYRK1A):c.664C>T (p.Arg222Ter)
|
rs780441716
|
|
NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter)
|
rs724159948
|
|
NM_001347721.2(DYRK1A):c.803del (p.Ala268fs)
|
rs1555984304
|
|
NM_001348323.3(TRIP12):c.3490dup (p.Ile1164fs)
|
rs2043184881
|
|
NM_001348323.3(TRIP12):c.3984_3985del (p.Gly1329fs)
|
rs1553610329
|
|
NM_001348323.3(TRIP12):c.4415+5G>A
|
rs2041634150
|
|
NM_001348323.3(TRIP12):c.486del (p.Gln162fs)
|
rs1553704696
|
|
NM_001348323.3(TRIP12):c.5191_5194del (p.Thr1731fs)
|
rs1553591922
|
|
NM_001348323.3(TRIP12):c.5905_5908delinsATATGGTATATTTACTT (p.Arg1969fs)
|
|
|
NM_001348716.2(KDM6B):c.1984_1990dup (p.Pro664fs)
|
|
|
NM_001348716.2(KDM6B):c.4388G>A (p.Trp1463Ter)
|
|
|
NM_001348768.2(HECW2):c.3572G>A (p.Arg1191Gln)
|
rs878854416
|
|
NM_001348768.2(HECW2):c.3988C>T (p.Arg1330Trp)
|
rs878854417
|
|
NM_001348800.3(ZBTB20):c.1256dup (p.Gly420fs)
|
rs1553794464
|
|
NM_001348800.3(ZBTB20):c.1412dup (p.Ser472fs)
|
|
|
NM_001348800.3(ZBTB20):c.1869G>C (p.Lys623Asn)
|
rs1553789275
|
|
NM_001348800.3(ZBTB20):c.329dup (p.His111fs)
|
rs2080691379
|
|
NM_001349338.3(FOXP1):c.1240_1241del (p.Leu414fs)
|
rs1064793130
|
|
NM_001349338.3(FOXP1):c.1240dup (p.Leu414fs)
|
rs797044652
|
|
NM_001349338.3(FOXP1):c.1506C>G (p.Phe502Leu)
|
rs1057524152
|
|
NM_001349338.3(FOXP1):c.1507del (p.Arg503fs)
|
rs1553667322
|
|
NM_001349338.3(FOXP1):c.1531-9_1534dup
|
rs2036514016
|
|
NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His)
|
rs797045586
|
|
NM_001349338.3(FOXP1):c.1547_1552del (p.Asn516_Leu517del)
|
|
|
NM_001349338.3(FOXP1):c.1569del (p.Phe523fs)
|
rs2036507371
|
|
NM_001349338.3(FOXP1):c.1574G>A (p.Arg525Gln)
|
rs1553663084
|
|
NM_001349338.3(FOXP1):c.1652+5G>A
|
rs794727216
|
|
NM_001349338.3(FOXP1):c.1652+5G>C
|
rs794727216
|
|
NM_001349338.3(FOXP1):c.529C>T (p.Gln177Ter)
|
rs1559807265
|
|
NM_001349338.3(FOXP1):c.598C>T (p.Gln200Ter)
|
rs1553709919
|
|
NM_001349999.2(RBFOX2):c.523dup (p.Ser175fs)
|
rs1555902810
|
|
NM_001352027.3(PHF21A):c.1032_1035del (p.Thr345fs)
|
rs2092369866
|
|
NM_001352027.3(PHF21A):c.1171C>T (p.Arg391Ter)
|
rs1554988946
|
|
NM_001352027.3(PHF21A):c.1230dup (p.Lys411Ter)
|
|
|
NM_001352027.3(PHF21A):c.602_603del (p.Thr201fs)
|
|
|
NM_001352514.2(HLCS):c.2140A>T (p.Lys714Ter)
|
|
|
NM_001353108.3(CEP63):c.448del (p.Arg150fs)
|
rs1266747910
|
|
NM_001353214.3(DYM):c.396T>A (p.Tyr132Ter)
|
rs120074162
|
|
NM_001353345.2(SETD1B):c.22dup (p.His8fs)
|
|
|
NM_001353345.2(SETD1B):c.3367del (p.Asp1123fs)
|
|
|
NM_001353345.2(SETD1B):c.773del (p.Tyr258fs)
|
|
|
NM_001353921.2(ARHGEF9):c.415C>T (p.Gln139Ter)
|
|
|
NM_001353921.2(ARHGEF9):c.556G>A (p.Glu186Lys)
|
rs1602446549
|
|
NM_001353921.2(ARHGEF9):c.875del (p.Asn292fs)
|
rs2050117690
|
|
NM_001356.5(DDX3X):c.1047dup (p.Asp350Ter)
|
|
|
NM_001356.5(DDX3X):c.1071_1170+24del
|
rs2063908023
|
|
NM_001356.5(DDX3X):c.1190_1196del (p.Leu397fs)
|
rs2063910538
|
|
NM_001356.5(DDX3X):c.1228_1247del (p.Ser410fs)
|
|
|
NM_001356.5(DDX3X):c.1276_1279del (p.Asp426fs)
|
rs1555953882
|
|
NM_001356.5(DDX3X):c.1298_1299dup (p.Leu434fs)
|
rs2063911610
|
|
NM_001356.5(DDX3X):c.1423C>G (p.Arg475Gly)
|
rs1064794574
|
|
NM_001356.5(DDX3X):c.1429C>T (p.Gln477Ter)
|
rs1555954105
|
|
NM_001356.5(DDX3X):c.1490C>T (p.Ala497Val)
|
rs796052236
|
|
NM_001356.5(DDX3X):c.1498-2A>G
|
rs1131691608
|
|
NM_001356.5(DDX3X):c.151+1G>A
|
rs2147343930
|
|
NM_001356.5(DDX3X):c.1535_1536del (p.His512fs)
|
rs796052230
|
|
NM_001356.5(DDX3X):c.1601dup (p.Val535fs)
|
rs1555954287
|
|
NM_001356.5(DDX3X):c.1696_1697del (p.Glu566fs)
|
|
|
NM_001356.5(DDX3X):c.1703C>T (p.Pro568Leu)
|
rs1057519430
|
|
NM_001356.5(DDX3X):c.1769+1G>A
|
rs1555954414
|
|
NM_001356.5(DDX3X):c.1806C>G (p.Tyr602Ter)
|
rs2063939905
|
|
NM_001356.5(DDX3X):c.233C>G (p.Ser78Ter)
|
rs886041589
|
|
NM_001356.5(DDX3X):c.275dup (p.Arg93fs)
|
|
|
NM_001356.5(DDX3X):c.284+1G>C
|
rs1555952710
|
|
NM_001356.5(DDX3X):c.380G>A (p.Trp127Ter)
|
rs2063866727
|
|
NM_001356.5(DDX3X):c.3G>C (p.Met1Ile)
|
rs1555950665
|
|
NM_001356.5(DDX3X):c.404_407del (p.Asp135fs)
|
|
|
NM_001356.5(DDX3X):c.454dup (p.Ser152fs)
|
|
|
NM_001356.5(DDX3X):c.616G>A (p.Val206Met)
|
rs1555953166
|
|
NM_001356.5(DDX3X):c.721C>T (p.Gln241Ter)
|
|
|
NM_001356.5(DDX3X):c.865-1G>C
|
rs1255183431
|
|
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter)
|
rs1555953488
|
|
NM_001356.5(DDX3X):c.977G>A (p.Arg326His)
|
rs797045025
|
|
NM_001360.3(DHCR7):c.1349_1350delinsTG (p.Arg450Leu)
|
rs1591107040
|
|
NM_001360.3(DHCR7):c.422del (p.Asn141fs)
|
|
|
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu)
|
rs80338858
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001360.3(DHCR7):c.964-1G>T
|
rs138659167
|
|
NM_001360016.2(G6PD):c.1088A>T (p.Asn363Ile)
|
rs1557229736
|
|
NM_001363711.2(DUOX2):c.1395_1396del (p.Gln466fs)
|
|
|
NM_001363711.2(DUOX2):c.2895_2898del (p.Phe966fs)
|
rs530719719
|
|
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs)
|
rs567500345
|
|
NM_001365088.1(SLC12A6):c.620G>A (p.Arg207His)
|
rs1555381416
|
|
NM_001365276.2(TNXB):c.1878del (p.His626fs)
|
rs1554334255
|
|
NM_001365536.1(SCN9A):c.1124_1126delinsCC (p.Gly375fs)
|
|
|
NM_001365536.1(SCN9A):c.2424G>A (p.Trp808Ter)
|
rs769971743
|
|
NM_001365536.1(SCN9A):c.3995G>A (p.Trp1332Ter)
|
rs1553479216
|
|
NM_001365536.1(SCN9A):c.829C>T (p.Arg277Ter)
|
rs121908916
|
|
NM_001365902.3(NFIX):c.1180del (p.His394fs)
|
rs1555707363
|
|
NM_001365902.3(NFIX):c.154G>T (p.Glu52Ter)
|
rs1555696499
|
|
NM_001365902.3(NFIX):c.361C>T (p.Arg121Cys)
|
rs797044911
|
|
NM_001365902.3(NFIX):c.559+1G>A
|
rs1057518152
|
|
NM_001365999.1(SZT2):c.2435_2436del (p.Leu812fs)
|
rs1652887200
|
|
NM_001365999.1(SZT2):c.2621dup (p.His875fs)
|
|
|
NM_001365999.1(SZT2):c.4249_4250del (p.Leu1417fs)
|
|
|
NM_001365999.1(SZT2):c.5113del (p.Met1705fs)
|
|
|
NM_001365999.1(SZT2):c.8062C>T (p.Arg2688Ter)
|
rs1394131270
|
|
NM_001365999.1(SZT2):c.8811del (p.Ser2938fs)
|
rs745420974
|
|
NM_001366145.2(TRPM3):c.3004G>A (p.Val1002Met)
|
rs1564493599
|
|
NM_001367561.1(DOCK7):c.4138C>T (p.Arg1380Ter)
|
rs1479675678
|
|
NM_001367721.1(CASK):c.1015+1G>C
|
rs1569350501
|
|
NM_001367721.1(CASK):c.1A>G (p.Met1Val)
|
|
|
NM_001367721.1(CASK):c.2065A>T (p.Lys689Ter)
|
rs1555977248
|
|
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter)
|
rs587783370
|
|
NM_001367721.1(CASK):c.845dup (p.Tyr282Ter)
|
rs1556004104
|
|
NM_001367873.1(SOX6):c.1038del (p.Phe346fs)
|
|
|
NM_001367873.1(SOX6):c.1083C>G (p.Tyr361Ter)
|
|
|
NM_001367873.1(SOX6):c.170del (p.Pro57fs)
|
|
|
NM_001367873.1(SOX6):c.706C>T (p.Gln236Ter)
|
rs1851490729
|
|
NM_001367943.1(TCF7L2):c.1180G>T (p.Glu394Ter)
|
|
|
NM_001367943.1(TCF7L2):c.755_762del (p.Gln252fs)
|
|
|
NM_001368894.2(PAX6):c.1225+1G>T
|
rs1554982537
|
|
NM_001368894.2(PAX6):c.510G>A (p.Trp170Ter)
|
rs1554985028
|
|
NM_001369.3(DNAH5):c.3598+2T>C
|
rs981267400
|
|
NM_001369.3(DNAH5):c.8869del (p.Val2957fs)
|
rs1580203399
|
|
NM_001369268.1(ACAN):c.1227del (p.Ser410fs)
|
rs1555454560
|
|
NM_001369268.1(ACAN):c.2743del (p.Glu915fs)
|
|
|
NM_001369268.1(ACAN):c.361C>T (p.Gln121Ter)
|
|
|
NM_001369268.1(ACAN):c.5337del (p.Phe1780fs)
|
rs1897097454
|
|
NM_001369268.1(ACAN):c.5491_5500del (p.Phe1831fs)
|
rs1897102163
|
|
NM_001370100.5(ZMYND11):c.1072C>T (p.Arg358Ter)
|
rs1554792556
|
|
NM_001370100.5(ZMYND11):c.1798C>T (p.Arg600Trp)
|
rs797044854
|
|
NM_001370100.5(ZMYND11):c.701_704del (p.Asp234fs)
|
|
|
NM_001370100.5(ZMYND11):c.740dup (p.Asp247fs)
|
rs1950618250
|
|
NM_001370298.3(FGD4):c.2104del (p.Cys702fs)
|
|
|
NM_001370658.1(BTD):c.1552C>A (p.Arg518Ser)
|
rs80338686
|
|
NM_001371279.1(REEP1):c.327del (p.Ala110fs)
|
|
|
NM_001371596.2(MFSD8):c.1361T>C (p.Met454Thr)
|
rs559155109
|
|
NM_001371596.2(MFSD8):c.863+1G>A
|
rs200319160
|
|
NM_001371596.2(MFSD8):c.881C>A (p.Thr294Lys)
|
rs140948465
|
|
NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs)
|
rs587776582
|
|
NM_001371928.1(AHDC1):c.1433del (p.Met478fs)
|
rs2019490062
|
|
NM_001371928.1(AHDC1):c.1551del (p.Thr518fs)
|
rs2019482037
|
|
NM_001371928.1(AHDC1):c.1910dup (p.Cys637fs)
|
rs2019459021
|
|
NM_001371928.1(AHDC1):c.2188G>T (p.Glu730Ter)
|
rs2019433712
|
|
NM_001371928.1(AHDC1):c.3032C>A (p.Ser1011Ter)
|
rs2019363981
|
|
NM_001371928.1(AHDC1):c.3474dup (p.Val1159fs)
|
|
|
NM_001371928.1(AHDC1):c.4547del (p.Lys1516fs)
|
rs2019237217
|
|
NM_001372044.2(SHANK3):c.1619_1629dup (p.Ser544fs)
|
|
|
NM_001372044.2(SHANK3):c.2452_2453del (p.Arg818fs)
|
rs2083233502
|
|
NM_001372044.2(SHANK3):c.2478del (p.Ala827fs)
|
rs2083233723
|
|
NM_001372044.2(SHANK3):c.3977_3989del (p.Leu1326fs)
|
rs1555910182
|
|
NM_001372044.2(SHANK3):c.3989_4001del (p.Arg1330fs)
|
rs886041238
|
|
NM_001372044.2(SHANK3):c.4627C>T (p.Gln1543Ter)
|
rs1064795759
|
|
NM_001372044.2(SHANK3):c.4874_4878dup (p.Pro1627fs)
|
rs1603447373
|
|
NM_001372044.2(SHANK3):c.496C>T (p.Arg166Ter)
|
rs1569097392
|
|
NM_001372066.1(TFAP2A):c.716G>A (p.Arg239Gln)
|
rs151344525
|
|
NM_001372066.1(TFAP2A):c.766C>T (p.Arg256Trp)
|
rs151344528
|
|
NM_001372066.1(TFAP2A):c.769A>T (p.Arg257Trp)
|
rs121909574
|
|
NM_001372066.1(TFAP2A):c.773C>T (p.Ala258Val)
|
rs151344531
|
|
NM_001372076.1(PAX9):c.464_465dup (p.Tyr156fs)
|
rs1555316743
|
|
NM_001374258.1(BRAF):c.2034T>G (p.Asp678Glu)
|
rs180177042
|
|
NM_001374353.1(GLI2):c.1597dup (p.Arg533fs)
|
rs1553477189
|
|
NM_001374353.1(GLI2):c.1718del (p.Gly573fs)
|
|
|
NM_001374353.1(GLI2):c.322del (p.Ala108fs)
|
rs1553471273
|
|
NM_001374353.1(GLI2):c.562del (p.Ala188fs)
|
rs869312965
|
|
NM_001374736.1(DST):c.12067C>T (p.Gln4023Ter)
|
|
|
NM_001374736.1(DST):c.12295G>T (p.Glu4099Ter)
|
|
|
NM_001374736.1(DST):c.12924_12927delinsTA (p.Ser4309fs)
|
|
|
NM_001374736.1(DST):c.13478del (p.Phe4492_Leu4493insTer)
|
|
|
NM_001374736.1(DST):c.15158_15159del (p.Gln5053fs)
|
|
|
NM_001374736.1(DST):c.15529del (p.Thr5177fs)
|
|
|
NM_001374736.1(DST):c.16565_16566del (p.Gly5522fs)
|
|
|
NM_001374736.1(DST):c.21985C>T (p.Arg7329Ter)
|
rs2152403168
|
|
NM_001374736.1(DST):c.2989C>T (p.Gln997Ter)
|
|
|
NM_001374828.1(ARID1B):c.1293_1311del (p.Gly434fs)
|
rs943407609
|
|
NM_001374828.1(ARID1B):c.1293_1314del (p.Gly434fs)
|
rs1778945620
|
|
NM_001374828.1(ARID1B):c.1625_1632dup (p.Ala545fs)
|
|
|
NM_001374828.1(ARID1B):c.1638_1647del (p.Ala547fs)
|
rs1131691339
|
|
NM_001374828.1(ARID1B):c.1641_1651del (p.Gln550fs)
|
rs1131691706
|
|
NM_001374828.1(ARID1B):c.1789C>T (p.Gln597Ter)
|
rs1779032666
|
|
NM_001374828.1(ARID1B):c.1861C>T (p.Gln621Ter)
|
rs1057518951
|
|
NM_001374828.1(ARID1B):c.1867C>T (p.Gln623Ter)
|
rs1554256703
|
|
NM_001374828.1(ARID1B):c.1923T>G (p.Tyr641Ter)
|
rs1782980450
|
|
NM_001374828.1(ARID1B):c.2581+2T>C
|
rs1786833331
|
|
NM_001374828.1(ARID1B):c.2886del (p.Ala963fs)
|
rs1789979659
|
|
NM_001374828.1(ARID1B):c.3038dup (p.Glu1014fs)
|
rs1554226131
|
|
NM_001374828.1(ARID1B):c.3053dup (p.Val1019fs)
|
|
|
NM_001374828.1(ARID1B):c.3345+1G>A
|
rs1791922830
|
|
NM_001374828.1(ARID1B):c.3552C>G (p.Tyr1184Ter)
|
rs758570139
|
|
NM_001374828.1(ARID1B):c.3581_3585delinsCAGA (p.Leu1194fs)
|
rs1562328476
|
|
NM_001374828.1(ARID1B):c.3592C>T (p.Arg1198Ter)
|
rs387907144
|
|
NM_001374828.1(ARID1B):c.3746del (p.Ala1249fs)
|
rs1554231814
|
|
NM_001374828.1(ARID1B):c.3926C>A (p.Ser1309Ter)
|
rs1321954955
|
|
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs)
|
rs1289067120
|
|
NM_001374828.1(ARID1B):c.4050del (p.Gly1351fs)
|
rs1793228690
|
|
NM_001374828.1(ARID1B):c.4058+1G>A
|
|
|
NM_001374828.1(ARID1B):c.4146dup (p.Tyr1383fs)
|
rs1793251352
|
|
NM_001374828.1(ARID1B):c.4362T>A (p.Tyr1454Ter)
|
rs1554234424
|
|
NM_001374828.1(ARID1B):c.4378C>T (p.Arg1460Ter)
|
rs773740590
|
|
NM_001374828.1(ARID1B):c.4441dup (p.Tyr1481fs)
|
|
|
NM_001374828.1(ARID1B):c.4479G>A (p.Pro1493=)
|
rs797045277
|
|
NM_001374828.1(ARID1B):c.4540_4541del (p.Met1514fs)
|
rs797044859
|
|
NM_001374828.1(ARID1B):c.4550del (p.Met1517fs)
|
|
|
NM_001374828.1(ARID1B):c.4689del (p.His1564fs)
|
|
|
NM_001374828.1(ARID1B):c.4839C>G (p.Tyr1613Ter)
|
rs1554235792
|
|
NM_001374828.1(ARID1B):c.4940C>A (p.Ser1647Ter)
|
rs867707366
|
|
NM_001374828.1(ARID1B):c.5028del (p.Ser1678fs)
|
|
|
NM_001374828.1(ARID1B):c.5239C>T (p.Arg1747Ter)
|
rs1554236040
|
|
NM_001374828.1(ARID1B):c.5257dup (p.Asp1753fs)
|
rs1554236054
|
|
NM_001374828.1(ARID1B):c.5315del (p.Ala1772fs)
|
rs1794278792
|
|
NM_001374828.1(ARID1B):c.5469del (p.Glu1823fs)
|
rs1554237050
|
|
NM_001374828.1(ARID1B):c.5773C>T (p.Arg1925Ter)
|
rs797045282
|
|
NM_001374828.1(ARID1B):c.5939_5942del (p.Lys1980fs)
|
rs886041706
|
|
NM_001374828.1(ARID1B):c.5955dup (p.Gly1986fs)
|
rs1562352435
|
|
NM_001374828.1(ARID1B):c.6145C>T (p.Arg2049Ter)
|
rs1554237658
|
|
NM_001374828.1(ARID1B):c.6181C>T (p.Gln2061Ter)
|
rs1554237689
|
|
NM_001374828.1(ARID1B):c.6193del (p.Ala2065fs)
|
rs1794509686
|
|
NM_001374828.1(ARID1B):c.6408G>A (p.Trp2136Ter)
|
rs1554237848
|
|
NM_001374828.1(ARID1B):c.6691C>T (p.Gln2231Ter)
|
rs1554238035
|
|
NM_001374828.1(ARID1B):c.6713T>G (p.Leu2238Ter)
|
|
|
NM_001374828.1(ARID1B):c.6751C>T (p.Arg2251Ter)
|
rs1554238072
|
|
NM_001374828.1(ARID1B):c.6823C>T (p.Gln2275Ter)
|
rs1554238093
|
|
NM_001374828.1(ARID1B):c.6916C>T (p.Gln2306Ter)
|
rs1308155037
|
|
NM_001374828.1(ARID1B):c.966_979delinsG (p.Ala323fs)
|
rs1554247637
|
|
NM_001375380.1(EBF3):c.1081C>T (p.Gln361Ter)
|
rs1850628942
|
|
NM_001375380.1(EBF3):c.289_291+1del
|
rs1859684230
|
|
NM_001375380.1(EBF3):c.488G>A (p.Arg163Gln)
|
rs1057519389
|
|
NM_001375380.1(EBF3):c.537_544del (p.Pro180fs)
|
|
|
NM_001375380.1(EBF3):c.626G>A (p.Arg209Gln)
|
rs1131692261
|
|
NM_001375380.1(EBF3):c.634C>T (p.Gln212Ter)
|
rs1852896440
|
|
NM_001375380.1(EBF3):c.934C>T (p.Arg312Ter)
|
rs1064796669
|
|
NM_001376.5(DYNC1H1):c.10033G>A (p.Glu3345Lys)
|
rs797044928
|
|
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys)
|
rs587780564
|
|
NM_001376.5(DYNC1H1):c.3278T>C (p.Phe1093Ser)
|
rs1555408829
|
|
NM_001376.5(DYNC1H1):c.4700G>A (p.Arg1567Gln)
|
rs797044901
|
|
NM_001376.5(DYNC1H1):c.6994C>T (p.Arg2332Cys)
|
rs1057518961
|
|
NM_001376.5(DYNC1H1):c.751C>T (p.Arg251Cys)
|
rs879253979
|
|
NM_001376.5(DYNC1H1):c.9754AAG[2] (p.Lys3254del)
|
rs797044918
|
|
NM_001376571.1(MADD):c.4392_4395del (p.Cys1464fs)
|
|
|
NM_001377142.1(PLCB4):c.1898G>A (p.Arg633His)
|
rs397514481
|
|
NM_001377304.1(GFI1B):c.784G>A (p.Asp262Asn)
|
rs1554724691
|
|
NM_001378120.1(MBD5):c.4819G>T (p.Glu1607Ter)
|
|
|
NM_001378120.1(MBD5):c.598C>T (p.Arg200Ter)
|
rs1293936199
|
|
NM_001378120.1(MBD5):c.74_83del (p.Trp25fs)
|
|
|
NM_001378120.1(MBD5):c.75G>A (p.Trp25Ter)
|
rs1553517456
|
|
NM_001378120.1(MBD5):c.973C>T (p.Arg325Ter)
|
rs1553518509
|
|
NM_001378183.1(PIEZO2):c.2134A>G (p.Met712Val)
|
rs587777453
|
|
NM_001378183.1(PIEZO2):c.3780del (p.Cys1260fs)
|
rs1555639568
|
|
NM_001378183.1(PIEZO2):c.4453del (p.Ile1484_Val1485insTer)
|
rs2037335667
|
|
NM_001378183.1(PIEZO2):c.7911del (p.Asn2638fs)
|
rs745895175
|
|
NM_001378183.1(PIEZO2):c.8396G>A (p.Arg2799His)
|
rs587777450
|
|
NM_001378414.1(HDAC4):c.743C>T (p.Pro248Leu)
|
rs1064797002
|
|
NM_001378418.1(TCF20):c.2224C>T (p.Arg742Ter)
|
rs1555926209
|
|
NM_001378418.1(TCF20):c.2685del (p.Arg896fs)
|
rs1555925903
|
|
NM_001378418.1(TCF20):c.2786_2787del (p.Lys929fs)
|
rs1921088321
|
|
NM_001378418.1(TCF20):c.4368del (p.Gly1457fs)
|
rs1555924435
|
|
NM_001378418.1(TCF20):c.5069dup (p.Pro1692fs)
|
rs1555923822
|
|
NM_001378418.1(TCF20):c.5719del (p.Arg1907fs)
|
rs1936673622
|
|
NM_001378452.1(ITPR1):c.4684G>A (p.Val1562Met)
|
rs397514535
|
|
NM_001378452.1(ITPR1):c.7660G>A (p.Gly2554Arg)
|
rs752281590
|
|
NM_001378452.1(ITPR1):c.7828AAG[1] (p.Lys2611del)
|
rs878853175
|
|
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met)
|
rs797044955
|
|
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)
|
rs886039392
|
|
NM_001378615.1(CC2D2A):c.4179+1del
|
rs386833760
|
|
NM_001378615.1(CC2D2A):c.4256del (p.Gly1419fs)
|
rs772110399
|
|
NM_001378778.1(MPDZ):c.1345C>T (p.Arg449Ter)
|
|
|
NM_001378778.1(MPDZ):c.3860C>A (p.Ser1287Ter)
|
|
|
NM_001378778.1(MPDZ):c.3897dup (p.Pro1300fs)
|
|
|
NM_001379081.2(FREM1):c.2097_2100del (p.Lys699fs)
|
rs769407804
|
|
NM_001379110.1(SLC9A6):c.465del (p.Ser158fs)
|
rs2089536867
|
|
NM_001379200.1(TBX1):c.936-2A>G
|
rs1555896474
|
|
NM_001379210.1(SLC25A26):c.424C>T (p.Arg142Ter)
|
|
|
NM_001379403.1(WDR26):c.1193del (p.Pro398fs)
|
|
|
NM_001379403.1(WDR26):c.1776G>A (p.Trp592Ter)
|
|
|
NM_001379403.1(WDR26):c.1849del (p.Thr618fs)
|
|
|
NM_001379403.1(WDR26):c.1925_1934del (p.Ala641_Leu642insTer)
|
rs1553353206
|
|
NM_001379403.1(WDR26):c.2094G>A (p.Trp698Ter)
|
rs1673192650
|
|
NM_001379403.1(WDR26):c.509dup (p.Asn170fs)
|
rs1674500220
|
|
NM_001379500.1(COL18A1):c.2825_2835delinsA (p.Gly942fs)
|
|
|
NM_001379659.1(ZNF142):c.3311C>G (p.Ser1104Ter)
|
|
|
NM_001379659.1(ZNF142):c.3904del (p.Ala1302fs)
|
|
|
NM_001382.4(DPAGT1):c.380_395dup (p.Ser133fs)
|
rs1185483085
|
|
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs)
|
rs777686211
|
|
NM_001384732.1(CPLANE1):c.5408dup (p.Asn1803fs)
|
|
|
NM_001384732.1(CPLANE1):c.8425del (p.Thr2809fs)
|
rs775263897
|
|
NM_001385.3(DPYS):c.253C>T (p.Gln85Ter)
|
|
|
NM_001385012.1(NBEA):c.3895C>T (p.Arg1299Ter)
|
rs2069582817
|
|
NM_001385012.1(NBEA):c.4477_4478del (p.Arg1493fs)
|
rs2070635297
|
|
NM_001386125.1(OBSCN):c.21291-7_21294del
|
rs869312933
|
|
NM_001386135.1(AFF3):c.697G>A (p.Ala233Thr)
|
rs1131692272
|
|
NM_001386140.1(MTTP):c.942C>G (p.Tyr314Ter)
|
|
|
NM_001386298.1(CIC):c.3179+1G>T
|
rs2147185256
|
|
NM_001386298.1(CIC):c.3704C>G (p.Ser1235Ter)
|
|
|
NM_001386298.1(CIC):c.7046dup (p.Asp2349fs)
|
rs1555773554
|
|
NM_001389.5(DSCAM):c.3276del (p.Glu1093fs)
|
rs1375541923
|
|
NM_001389.5(DSCAM):c.5260C>T (p.Arg1754Ter)
|
rs1369501286
|
|
NM_001393500.2(TOMT):c.515_518dup (p.Ser174fs)
|
rs797044907
|
|
NM_001393769.1(MED12L):c.3733C>T (p.Arg1245Ter)
|
rs1756333400
|
|
NM_001394998.1(TANC2):c.3238-1G>A
|
|
|
NM_001410729.1(HDAC8):c.915del (p.Arg306fs)
|
rs1555991965
|
|
NM_001413917.1(ETV6):c.1010-5011_1010-5007del
|
|
|
NM_001429.4(EP300):c.1066C>T (p.Gln356Ter)
|
rs1555907278
|
|
NM_001429.4(EP300):c.1447C>T (p.Gln483Ter)
|
|
|
NM_001429.4(EP300):c.1508dup (p.Met503fs)
|
rs1555907749
|
|
NM_001429.4(EP300):c.1879_1889delinsTTGAAGTGGTAGTATTC (p.Ala627_Tyr630delinsLeuLysTrpTer)
|
|
|
NM_001429.4(EP300):c.272del (p.Pro91fs)
|
rs1555905780
|
|
NM_001429.4(EP300):c.2855C>G (p.Ser952Ter)
|
rs2059047548
|
|
NM_001429.4(EP300):c.2874dup (p.Ser959Ter)
|
|
|
NM_001429.4(EP300):c.4026-2A>G
|
rs1555911098
|
|
NM_001429.4(EP300):c.4363C>T (p.Gln1455Ter)
|
rs1555911313
|
|
NM_001429.4(EP300):c.4575dup (p.Glu1526fs)
|
rs2059177123
|
|
NM_001429.4(EP300):c.4579_4589del (p.Arg1527fs)
|
rs1555911580
|
|
NM_001429.4(EP300):c.580_587del (p.Gly194fs)
|
|
|
NM_001429.4(EP300):c.6792_6793insT (p.Leu2265fs)
|
|
|
NM_001458.5(FLNC):c.3557C>T (p.Ala1186Val)
|
rs1114167361
|
|
NM_001478.5(B4GALNT1):c.263dup (p.Leu89fs)
|
rs745744124
|
|
NM_001478.5(B4GALNT1):c.863_870dup (p.Arg291fs)
|
|
|
NM_001510.4(GRID2):c.1960G>A (p.Ala654Thr)
|
|
|
NM_001510.4(GRID2):c.1961C>G (p.Ala654Gly)
|
rs1726914026
|
|
NM_001519.4(BRF1):c.1649del (p.Gly550fs)
|
|
|
NM_001519.4(BRF1):c.794_795insTTTA (p.Glu266fs)
|
|
|
NM_001540.5(HSPB1):c.379C>T (p.Arg127Trp)
|
rs29001571
|
|
NM_001540.5(HSPB1):c.407G>T (p.Arg136Leu)
|
rs863225022
|
|
NM_001540.5(HSPB1):c.418C>G (p.Arg140Gly)
|
rs121909112
|
|
NM_001555.5(IGSF1):c.1814_1836dup (p.Arg613delinsGlyArgThrTer)
|
|
|
NM_001605.3(AARS1):c.1699C>T (p.Gln567Ter)
|
|
|
NM_001605.3(AARS1):c.661C>T (p.Gln221Ter)
|
|
|
NM_001605.3(AARS1):c.966T>G (p.Tyr322Ter)
|
|
|
NM_001614.5(ACTG1):c.1004G>A (p.Arg335His)
|
rs1555666392
|
|
NM_001614.5(ACTG1):c.464C>T (p.Ser155Phe)
|
rs281875326
|
|
NM_001615.4(ACTG2):c.533G>A (p.Arg178His)
|
rs587777384
|
|
NM_001615.4(ACTG2):c.533G>T (p.Arg178Leu)
|
rs587777384
|
|
NM_001615.4(ACTG2):c.769C>T (p.Arg257Cys)
|
rs587777387
|
|
NM_001615.4(ACTG2):c.770G>A (p.Arg257His)
|
rs797044959
|
|
NM_001655.5(ARCN1):c.76C>T (p.Arg26Ter)
|
|
|
NM_001692.4(ATP6V1B1):c.1155dup (p.Ile386fs)
|
rs781969081
|
|
NM_001753.5(CAV1):c.479_480del (p.Leu159_Phe160insTer)
|
rs797044871
|
|
NM_001754.5(RUNX1):c.601C>T (p.Arg201Ter)
|
rs1057519748
|
|
NM_001759.4(CCND2):c.838A>G (p.Thr280Ala)
|
rs587777618
|
|
NM_001759.4(CCND2):c.841C>G (p.Pro281Ala)
|
rs587777621
|
|
NM_001791.4(CDC42):c.191A>G (p.Tyr64Cys)
|
rs864309721
|
|
NM_001791.4(CDC42):c.196A>G (p.Arg66Gly)
|
rs797044870
|
|
NM_001791.4(CDC42):c.68A>G (p.Tyr23Cys)
|
rs797044916
|
|
NM_001844.5(COL2A1):c.115C>T (p.Gln39Ter)
|
rs1940161368
|
|
NM_001844.5(COL2A1):c.1388_1996-108del
|
|
|
NM_001844.5(COL2A1):c.1510G>A (p.Gly504Ser)
|
rs121912880
|
|
NM_001844.5(COL2A1):c.1528G>T (p.Gly510Cys)
|
rs1555167157
|
|
NM_001844.5(COL2A1):c.2302-2A>G
|
rs1939127867
|
|
NM_001844.5(COL2A1):c.3265G>A (p.Gly1089Arg)
|
rs1555165183
|
|
NM_001844.5(COL2A1):c.3879G>A (p.Trp1293Ter)
|
rs1555164672
|
|
NM_001845.6(COL4A1):c.2263G>A (p.Gly755Arg)
|
rs672601346
|
|
NM_001845.6(COL4A1):c.2317G>A (p.Gly773Arg)
|
rs672601347
|
|
NM_001845.6(COL4A1):c.2494G>A (p.Gly832Arg)
|
rs797044867
|
|
NM_001845.6(COL4A1):c.3067G>A (p.Gly1023Arg)
|
rs1555302942
|
|
NM_001845.6(COL4A1):c.3505+1G>A
|
rs1555302735
|
|
NM_001845.6(COL4A1):c.4738G>A (p.Gly1580Ser)
|
rs113994114
|
|
NM_001848.3(COL6A1):c.805G>A (p.Gly269Arg)
|
rs886042856
|
|
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg)
|
rs121912939
|
|
NM_001849.4(COL6A2):c.902G>A (p.Gly301Asp)
|
rs1555872965
|
|
NM_001849.4(COL6A2):c.955-2A>G
|
rs1555873084
|
|
NM_001854.4(COL11A1):c.3816+1G>A
|
rs398122828
|
|
NM_001873.4(CPE):c.1150C>T (p.Gln384Ter)
|
|
|
NM_001875.5(CPS1):c.1930del (p.Cys644fs)
|
|
|
NM_001904.4(CTNNB1):c.1081+1G>A
|
rs2078201673
|
|
NM_001904.4(CTNNB1):c.1135C>T (p.Gln379Ter)
|
|
|
NM_001904.4(CTNNB1):c.1158del (p.Asn387fs)
|
rs1553631783
|
|
NM_001904.4(CTNNB1):c.1574_1575insT (p.Pro526fs)
|
rs2078377820
|
|
NM_001904.4(CTNNB1):c.1683G>C (p.Val561=)
|
rs1553632001
|
|
NM_001904.4(CTNNB1):c.1759C>T (p.Arg587Ter)
|
rs1064796453
|
|
NM_001904.4(CTNNB1):c.1782_1783del (p.Thr595fs)
|
|
|
NM_001904.4(CTNNB1):c.1848_1858del (p.Val617fs)
|
|
|
NM_001904.4(CTNNB1):c.1870dup (p.Asp624fs)
|
rs2078435846
|
|
NM_001904.4(CTNNB1):c.1925_1926del (p.Glu642fs)
|
rs1553632361
|
|
NM_001904.4(CTNNB1):c.268C>T (p.Arg90Ter)
|
rs1369821061
|
|
NM_001904.4(CTNNB1):c.283C>T (p.Arg95Ter)
|
rs775104326
|
|
NM_001904.4(CTNNB1):c.788T>G (p.Leu263Ter)
|
rs2078159952
|
|
NM_001904.4(CTNNB1):c.796C>T (p.Gln266Ter)
|
rs1553630472
|
|
NM_001904.4(CTNNB1):c.804del (p.Ala269fs)
|
rs2078160204
|
|
NM_001904.4(CTNNB1):c.999C>A (p.Tyr333Ter)
|
rs778624338
|
|
NM_001958.5(EEF1A2):c.208G>A (p.Gly70Ser)
|
rs587777162
|
|
NM_001958.5(EEF1A2):c.364G>A (p.Glu122Lys)
|
|
|
NM_001958.5(EEF1A2):c.424A>G (p.Thr142Ala)
|
rs1568997118
|
|
NM_001958.5(EEF1A2):c.796C>T (p.Arg266Trp)
|
rs1555883505
|
|
NM_002016.2(FLG):c.1830del (p.Arg612fs)
|
rs1570913142
|
|
NM_002024.6(FMR1):c.104+3_104+6del
|
rs2043190584
|
|
NM_002025.4(AFF2):c.76A>T (p.Lys26Ter)
|
rs1557256416
|
|
NM_002047.4(GARS1):c.373G>A (p.Glu125Lys)
|
rs797044855
|
|
NM_002055.5(GFAP):c.1246C>T (p.Arg416Trp)
|
rs121909717
|
|
NM_002074.5(GNB1):c.1011_1013del (p.Lys337_Ile338delinsAsn)
|
rs1553191393
|
|
NM_002074.5(GNB1):c.239T>C (p.Ile80Thr)
|
rs752746786
|
|
NM_002074.5(GNB1):c.353A>G (p.Asp118Gly)
|
rs1553194162
|
|
NM_002074.5(GNB1):c.640C>T (p.Arg214Ter)
|
rs1002519501
|
|
NM_002087.4(GRN):c.1153G>T (p.Glu385Ter)
|
|
|
NM_002087.4(GRN):c.967_976del (p.Pro323fs)
|
|
|
NM_002180.3(IGHMBP2):c.1144G>A (p.Glu382Lys)
|
rs776730737
|
|
NM_002180.3(IGHMBP2):c.1730T>C (p.Leu577Pro)
|
rs1483165002
|
|
NM_002180.3(IGHMBP2):c.2429del (p.Pro810fs)
|
rs1189538200
|
|
NM_002180.3(IGHMBP2):c.2911_2912del (p.Arg971fs)
|
rs724159994
|
|
NM_002180.3(IGHMBP2):c.2T>C (p.Met1Thr)
|
rs886037759
|
|
NM_002335.4(LRP5):c.2718_2721del (p.Met907fs)
|
rs1244761864
|
|
NM_002335.4(LRP5):c.3232C>T (p.Arg1078Ter)
|
rs765402802
|
|
NM_002335.4(LRP5):c.4488+2T>G
|
rs80358322
|
|
NM_002335.4(LRP5):c.500G>C (p.Trp167Ser)
|
rs770383372
|
|
NM_002336.3(LRP6):c.1003C>T (p.Arg335Ter)
|
rs1565611848
|
|
NM_002340.6(LSS):c.494del (p.Gly165fs)
|
|
|
NM_002351.5(SH2D1A):c.150C>A (p.Tyr50Ter)
|
rs1556620698
|
|
NM_002397.5(MEF2C):c.-26C>T
|
rs758320958
|
|
NM_002397.5(MEF2C):c.113T>C (p.Leu38Pro)
|
rs397514655
|
|
NM_002397.5(MEF2C):c.123_124del (p.Cys41_Glu42delinsTer)
|
rs1554139771
|
|
NM_002397.5(MEF2C):c.204_208del (p.Lys68fs)
|
|
|
NM_002397.5(MEF2C):c.214del (p.Tyr72fs)
|
rs1554139723
|
|
NM_002397.5(MEF2C):c.44G>A (p.Arg15His)
|
rs1202957297
|
|
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter)
|
rs587783747
|
|
NM_002397.5(MEF2C):c.638-2A>C
|
rs1554102556
|
|
NM_002397.5(MEF2C):c.64_77del (p.Thr22fs)
|
|
|
NM_002430.3(MN1):c.1627C>T (p.Gln543Ter)
|
|
|
NM_002430.3(MN1):c.3883C>T (p.Arg1295Ter)
|
rs147334255
|
|
NM_002453.3(MTIF2):c.573C>G (p.His191Gln)
|
rs745980045
|
|
NM_002453.3(MTIF2):c.899_909del (p.Val300fs)
|
rs1281877795
|
|
NM_002454.3(MTRR):c.1459G>A (p.Gly487Arg)
|
rs137853061
|
|
NM_002454.3(MTRR):c.1678_1681del (p.Glu560Asnfs)
|
rs768980918
|
|
NM_002465.4(MYBPC1):c.788T>G (p.Leu263Arg)
|
rs1565943228
|
|
NM_002470.4(MYH3):c.3751C>T (p.Arg1251Ter)
|
|
|
NM_002470.4(MYH3):c.5605_5659-47del
|
rs1555524879
|
|
NM_002471.4(MYH6):c.2462_2469del (p.Arg821fs)
|
rs1555334047
|
|
NM_002491.3(NDUFB3):c.200del (p.Phe67fs)
|
rs1553535063
|
|
NM_002495.4(NDUFS4):c.319_322del (p.Trp107fs)
|
|
|
NM_002495.4(NDUFS4):c.462del (p.Lys154fs)
|
rs587776949
|
|
NM_002529.4(NTRK1):c.2088del (p.Glu697fs)
|
|
|
NM_002529.4(NTRK1):c.538C>T (p.Gln180Ter)
|
rs1571689751
|
|
NM_002547.3(OPHN1):c.1141G>T (p.Glu381Ter)
|
rs2077499942
|
|
NM_002547.3(OPHN1):c.2110_2111del (p.Phe704fs)
|
|
|
NM_002578.5(PAK3):c.535G>T (p.Glu179Ter)
|
|
|
NM_002585.4(PBX1):c.685C>T (p.Arg229Ter)
|
rs1668981132
|
|
NM_002591.4(PCK1):c.1234C>T (p.Gln412Ter)
|
|
|
NM_002599.5(PDE2A):c.574_592dup (p.Gly198fs)
|
|
|
NM_002617.4(PEX10):c.157_158del (p.Ser53fs)
|
rs1384671249
|
|
NM_002617.4(PEX10):c.776+1G>C
|
rs869312935
|
|
NM_002633.3(PGM1):c.1378_1379del (p.Ala461fs)
|
rs763428801
|
|
NM_002693.3(POLG):c.1789C>T (p.Arg597Trp)
|
rs139717885
|
|
NM_002693.3(POLG):c.3014_3057del (p.Val1005fs)
|
rs886041276
|
|
NM_002693.3(POLG):c.409C>T (p.Gln137Ter)
|
rs1057517891
|
|
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)
|
rs886037952
|
|
NM_002755.4(MAP2K1):c.388T>C (p.Tyr130His)
|
rs397516793
|
|
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)
|
rs121908595
|
|
NM_002764.4(PRPS1):c.307-2A>G
|
rs1556299881
|
|
NM_002816.5(PSMD12):c.1071_1072del (p.Arg357fs)
|
rs2041946364
|
|
NM_002830.4(PTPN4):c.745C>T (p.Arg249Ter)
|
|
|
NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp)
|
rs397507520
|
|
NM_002860.4(ALDH18A1):c.250C>T (p.Arg84Ter)
|
|
|
NM_002860.4(ALDH18A1):c.301C>T (p.Gln101Ter)
|
rs1566039159
|
|
NM_002861.5(PCYT2):c.524_527del (p.Asp175fs)
|
|
|
NM_002875.5(RAD51):c.877G>A (p.Ala293Thr)
|
rs1057519413
|
|
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser)
|
rs121434594
|
|
NM_002890.3(RASA1):c.2184+1G>T
|
rs1761341362
|
|
NM_002894.3(RBBP8):c.2042C>G (p.Ser681Ter)
|
|
|
NM_002971.6(SATB1):c.804_806delinsGGGA (p.Asn268fs)
|
|
|
NM_003011.4(SET):c.130_133del (p.Arg44fs)
|
rs1554776342
|
|
NM_003011.4(SET):c.452del (p.Pro151fs)
|
|
|
NM_003024.3(ITSN1):c.1909C>T (p.Arg637Ter)
|
|
|
NM_003024.3(ITSN1):c.2895C>G (p.Tyr965Ter)
|
|
|
NM_003036.4(SKI):c.100G>A (p.Gly34Ser)
|
rs387907306
|
|
NM_003036.4(SKI):c.100G>T (p.Gly34Cys)
|
rs387907306
|
|
NM_003036.4(SKI):c.94C>G (p.Leu32Val)
|
rs387907304
|
|
NM_003042.4(SLC6A1):c.1104C>G (p.Tyr368Ter)
|
|
|
NM_003042.4(SLC6A1):c.1189C>T (p.Gln397Ter)
|
rs1553690452
|
|
NM_003042.4(SLC6A1):c.1595G>A (p.Trp532Ter)
|
rs1559640454
|
|
NM_003042.4(SLC6A1):c.531C>G (p.Tyr177Ter)
|
|
|
NM_003042.4(SLC6A1):c.640_658del (p.Leu214fs)
|
rs1553688970
|
|
NM_003042.4(SLC6A1):c.809T>C (p.Phe270Ser)
|
rs1553689580
|
|
NM_003042.4(SLC6A1):c.850-2A>G
|
rs1553689664
|
|
NM_003054.4(SLC18A2):c.835_836delAG
|
rs1431337923
|
|
NM_003070.5(SMARCA2):c.2810G>A (p.Arg937His)
|
rs1586692551
|
|
NM_003070.5(SMARCA2):c.3593T>G (p.Val1198Gly)
|
rs1554629007
|
|
NM_003072.5(SMARCA4):c.2348T>C (p.Leu783Pro)
|
rs869312964
|
|
NM_003072.5(SMARCA4):c.2576C>T (p.Thr859Met)
|
rs281875226
|
|
NM_003072.5(SMARCA4):c.2653C>T (p.Arg885Cys)
|
rs281875227
|
|
NM_003104.6(SORD):c.757del (p.Ala253fs)
|
rs55901542
|
|
NM_003106.4(SOX2):c.70_86del (p.Asn24fs)
|
rs1553862927
|
|
NM_003108.4(SOX11):c.1164_1176del (p.Asn389fs)
|
rs1553328057
|
|
NM_003108.4(SOX11):c.791C>A (p.Ser264Ter)
|
rs1553327954
|
|
NM_003119.3(SPG7):c.1454_1462delGGCGGGAGA (p.Arg485_Glu487del)
|
rs768823392
|
|
NM_003119.4(SPG7):c.347C>A (p.Ser116Ter)
|
rs149474131
|
|
NM_003124.5(SPR):c.587A>G (p.Tyr196Cys)
|
rs1670577739
|
|
NM_003128.3(SPTBN1):c.3523del (p.Leu1175fs)
|
|
|
NM_003128.3(SPTBN1):c.4341_4344del (p.Ser1447fs)
|
|
|
NM_003130.4(SRI):c.206-1G>A
|
rs869312940
|
|
NM_003172.4(SURF1):c.240G>C (p.Gln80His)
|
rs1554768709
|
|
NM_003172.4(SURF1):c.792_793del (p.Arg264fs)
|
rs782490558
|
|
NM_003172.4(SURF1):c.845_846del (p.Ser282fs)
|
rs782316919
|
|
NM_003172.4(SURF1):c.870dup (p.Lys291Ter)
|
rs782061187
|
|
NM_003185.4(TAF4):c.1519C>T (p.Gln507Ter)
|
|
|
NM_003185.4(TAF4):c.2719C>T (p.Gln907Ter)
|
|
|
NM_003193.5(TBCE):c.653G>A (p.Trp218Ter)
|
|
|
NM_003221.4(TFAP2B):c.601+1G>A
|
|
|
NM_003238.6(TGFB2):c.229_245del (p.Leu77fs)
|
rs1553292105
|
|
NM_003334.4(UBA1):c.121A>G (p.Met41Val)
|
rs1936307795
|
|
NM_003336.4(UBE2A):c.108G>A (p.Trp36Ter)
|
rs2053404449
|
|
NM_003361.4(UMOD):c.707C>T (p.Pro236Leu)
|
rs1447458978
|
|
NM_003384.3(VRK1):c.179_180del (p.Glu60fs)
|
rs2139759363
|
|
NM_003384.3(VRK1):c.464T>A (p.Leu155Ter)
|
|
|
NM_003403.5(YY1):c.468_483del (p.Gly157fs)
|
rs1890695996
|
|
NM_003470.3(USP7):c.845C>G (p.Ser282Ter)
|
|
|
NM_003482.4(KMT2D):c.11547_11557dup (p.Val3853fs)
|
rs1555188623
|
|
NM_003482.4(KMT2D):c.11938C>T (p.Gln3980Ter)
|
|
|
NM_003482.4(KMT2D):c.11944C>T (p.Arg3982Ter)
|
rs1555188379
|
|
NM_003482.4(KMT2D):c.12414dup (p.Val4139fs)
|
rs1942959186
|
|
NM_003482.4(KMT2D):c.12466del (p.Gln4156fs)
|
|
|
NM_003482.4(KMT2D):c.12592C>T (p.Arg4198Ter)
|
rs587783685
|
|
NM_003482.4(KMT2D):c.13411_13412del (p.Asn4471fs)
|
rs1555187440
|
|
NM_003482.4(KMT2D):c.13450C>T (p.Arg4484Ter)
|
rs587783690
|
|
NM_003482.4(KMT2D):c.13986_13993dup (p.Leu4665fs)
|
rs1555186842
|
|
NM_003482.4(KMT2D):c.14075+1G>A
|
rs1057516039
|
|
NM_003482.4(KMT2D):c.15079C>T (p.Arg5027Ter)
|
rs797045659
|
|
NM_003482.4(KMT2D):c.15142C>T (p.Arg5048Cys)
|
rs398123724
|
|
NM_003482.4(KMT2D):c.15535C>T (p.Arg5179Cys)
|
rs794727688
|
|
NM_003482.4(KMT2D):c.15858_15859del (p.Tyr5287fs)
|
|
|
NM_003482.4(KMT2D):c.16018C>T (p.Arg5340Ter)
|
rs1565756115
|
|
NM_003482.4(KMT2D):c.16022C>G (p.Ser5341Ter)
|
|
|
NM_003482.4(KMT2D):c.16273G>A (p.Glu5425Lys)
|
rs2137706560
|
|
NM_003482.4(KMT2D):c.16336dup (p.Gln5446fs)
|
rs1555184787
|
|
NM_003482.4(KMT2D):c.16360C>T (p.Arg5454Ter)
|
rs267607239
|
|
NM_003482.4(KMT2D):c.1967del (p.Leu656fs)
|
rs772870804
|
|
NM_003482.4(KMT2D):c.4485C>A (p.Tyr1495Ter)
|
rs574622908
|
|
NM_003482.4(KMT2D):c.4941del (p.Asp1648fs)
|
rs1555194443
|
|
NM_003482.4(KMT2D):c.5124_5125del (p.Arg1709fs)
|
rs886043506
|
|
NM_003482.4(KMT2D):c.5269C>T (p.Arg1757Ter)
|
rs1555194045
|
|
NM_003482.4(KMT2D):c.5775del (p.Leu1926fs)
|
rs1943599403
|
|
NM_003482.4(KMT2D):c.6295C>T (p.Arg2099Ter)
|
rs1452715535
|
|
NM_003482.4(KMT2D):c.778del (p.Ala259_Leu260insTer)
|
rs1938214848
|
|
NM_003482.4(KMT2D):c.9787_9791dup (p.Gln3265fs)
|
rs1943282614
|
|
NM_003491.4(NAA10):c.247C>T (p.Arg83Cys)
|
|
|
NM_003560.4(PLA2G6):c.1019_1025del (p.Gly340fs)
|
rs797044903
|
|
NM_003560.4(PLA2G6):c.1117G>A (p.Gly373Arg)
|
rs587784327
|
|
NM_003560.4(PLA2G6):c.2166del (p.Phe722fs)
|
|
|
NM_003560.4(PLA2G6):c.533_536del (p.Gln178fs)
|
rs2089023572
|
|
NM_003590.5(CUL3):c.1349_1350del (p.Asp449_Ser450insTer)
|
rs1553521389
|
|
NM_003590.5(CUL3):c.1651C>T (p.Gln551Ter)
|
rs1553602498
|
|
NM_003590.5(CUL3):c.493_494del (p.Leu165fs)
|
rs1553523940
|
|
NM_003611.3(OFD1):c.2076del (p.Phe692fs)
|
rs1555907034
|
|
NM_003611.3(OFD1):c.2789_2793del (p.Ile930fs)
|
rs797044945
|
|
NM_003620.4(PPM1D):c.1210C>T (p.Gln404Ter)
|
rs768126695
|
|
NM_003620.4(PPM1D):c.1213G>T (p.Glu405Ter)
|
rs2031447940
|
|
NM_003620.4(PPM1D):c.1216del (p.Thr406fs)
|
rs747947002
|
|
NM_003620.4(PPM1D):c.1269_1270del (p.Glu424fs)
|
rs2031551420
|
|
NM_003680.4(YARS1):c.112del (p.Ile38fs)
|
rs771840678
|
|
NM_003680.4(YARS1):c.1276del (p.Asn425_Leu426insTer)
|
rs764028295
|
|
NM_003680.4(YARS1):c.159del (p.Phe53fs)
|
|
|
NM_003680.4(YARS1):c.835C>T (p.Arg279Ter)
|
rs767579114
|
|
NM_003705.5(SLC25A12):c.249_255del (p.Cys85fs)
|
|
|
NM_003709.4(KLF7):c.790G>A (p.Asp264Asn)
|
rs1057518995
|
|
NM_003718.5(CDK13):c.1228C>T (p.Arg410Ter)
|
|
|
NM_003718.5(CDK13):c.181del (p.Leu61fs)
|
rs1554317002
|
|
NM_003718.5(CDK13):c.1959del (p.Glu654fs)
|
|
|
NM_003718.5(CDK13):c.2149G>A (p.Gly717Arg)
|
rs1057519632
|
|
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser)
|
rs878853160
|
|
NM_003718.5(CDK13):c.2578C>T (p.Arg860Ter)
|
rs775898119
|
|
NM_003718.5(CDK13):c.901del (p.Arg301fs)
|
|
|
NM_003719.5(PDE8B):c.328_329del (p.Thr110fs)
|
|
|
NM_003722.5(TP63):c.1028G>A (p.Arg343Gln)
|
rs121908841
|
|
NM_003730.6(RNASET2):c.154C>T (p.Gln52Ter)
|
|
|
NM_003742.4(ABCB11):c.3213+1del
|
rs1553546495
|
|
NM_003859.3(DPM1):c.331_343del (p.Gly111fs)
|
rs1272097668
|
|
NM_003865.3(HESX1):c.254C>A (p.Ser85Ter)
|
|
|
NM_003906.5(MCM3AP):c.2936_2937del (p.Pro979fs)
|
|
|
NM_003906.5(MCM3AP):c.3228dup (p.Asp1077Ter)
|
|
|
NM_003919.3(SGCE):c.1151del (p.Leu384fs)
|
|
|
NM_003919.3(SGCE):c.289C>T (p.Arg97Ter)
|
rs121908489
|
|
NM_003922.4(HERC1):c.5164C>T (p.Gln1722Ter)
|
|
|
NM_003922.4(HERC1):c.681del (p.Gly231fs)
|
rs2076073941
|
|
NM_003922.4(HERC1):c.7771C>T (p.Arg2591Ter)
|
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004035.7(ACOX1):c.710A>G (p.Asn237Ser)
|
rs1567876984
|
|
NM_004055.5(CAPN5):c.865C>T (p.Arg289Trp)
|
rs886041303
|
|
NM_004092.4(ECHS1):c.370dup (p.Thr124fs)
|
|
|
NM_004092.4(ECHS1):c.410_411del (p.Tyr137fs)
|
rs777218310
|
|
NM_004100.5(EYA4):c.316del (p.Ser106fs)
|
rs1554260888
|
|
NM_004187.5(KDM5C):c.147del (p.Ala50fs)
|
|
|
NM_004187.5(KDM5C):c.2275_2276dup (p.Met759fs)
|
|
|
NM_004187.5(KDM5C):c.2482C>T (p.Arg828Ter)
|
rs1135401800
|
|
NM_004187.5(KDM5C):c.2575C>T (p.Gln859Ter)
|
rs1556838661
|
|
NM_004187.5(KDM5C):c.2770C>T (p.Gln924Ter)
|
rs1556837420
|
|
NM_004187.5(KDM5C):c.2785C>T (p.Arg929Ter)
|
rs782405999
|
|
NM_004187.5(KDM5C):c.3058C>T (p.Gln1020Ter)
|
rs1556836399
|
|
NM_004187.5(KDM5C):c.3392_3393del (p.Glu1131fs)
|
|
|
NM_004187.5(KDM5C):c.3692del (p.Pro1231fs)
|
|
|
NM_004187.5(KDM5C):c.3835C>T (p.Gln1279Ter)
|
|
|
NM_004204.5(PIGQ):c.572G>A (p.Trp191Ter)
|
|
|
NM_004247.4(EFTUD2):c.1058+1G>A
|
rs1085307647
|
|
NM_004247.4(EFTUD2):c.1465_1466del (p.Gln489fs)
|
rs1555565807
|
|
NM_004247.4(EFTUD2):c.1554del (p.Asp518fs)
|
rs2050680680
|
|
NM_004247.4(EFTUD2):c.2352dup (p.Arg785fs)
|
rs1555564175
|
|
NM_004247.4(EFTUD2):c.2504_2505dup (p.Val836fs)
|
rs2050490408
|
|
NM_004247.4(EFTUD2):c.2562-1G>A
|
rs1555564006
|
|
NM_004247.4(EFTUD2):c.2595dup (p.Ser866fs)
|
rs1555563998
|
|
NM_004260.4(RECQL4):c.792G>A (p.Trp264Ter)
|
rs1554902811
|
|
NM_004268.5(MED17):c.98dup (p.Leu34fs)
|
rs745733410
|
|
NM_004287.5(GOSR2):c.22dup (p.Thr8fs)
|
rs746855352
|
|
NM_004287.5(GOSR2):c.341_342del (p.Asp113_Ser114insTer)
|
|
|
NM_004333.6(BRAF):c.1460T>G (p.Val487Gly)
|
rs397516893
|
|
NM_004333.6(BRAF):c.1574T>A (p.Leu525Gln)
|
rs869025340
|
|
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)
|
rs180177042
|
|
NM_004333.6(BRAF):c.722C>G (p.Thr241Arg)
|
rs387906660
|
|
NM_004369.4(COL6A3):c.6238G>C (p.Gly2080Arg)
|
rs1553553625
|
|
NM_004380.3(CREBBP):c.1948T>C (p.Tyr650His)
|
|
|
NM_004380.3(CREBBP):c.3428del (p.Asp1143fs)
|
rs1555478331
|
|
NM_004380.3(CREBBP):c.3625C>T (p.Gln1209Ter)
|
rs1596852578
|
|
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)
|
rs267606752
|
|
NM_004380.3(CREBBP):c.3955C>T (p.Arg1319Ter)
|
rs1555475250
|
|
NM_004380.3(CREBBP):c.4348T>C (p.Tyr1450His)
|
rs1555473499
|
|
NM_004380.3(CREBBP):c.4409A>G (p.His1470Arg)
|
rs797044860
|
|
NM_004380.3(CREBBP):c.4495C>G (p.Leu1499Val)
|
rs2052070559
|
|
NM_004380.3(CREBBP):c.5129G>A (p.Cys1710Tyr)
|
rs1555471813
|
|
NM_004380.3(CREBBP):c.5361C>A (p.Asn1787Lys)
|
rs375462934
|
|
NM_004380.3(CREBBP):c.5558A>C (p.Gln1853Pro)
|
|
|
NM_004380.3(CREBBP):c.6271A>T (p.Lys2091Ter)
|
|
|
NM_004380.3(CREBBP):c.90del (p.Phe30fs)
|
rs1555496732
|
|
NM_004385.5(VCAN):c.4004-2A>G
|
rs80356555
|
|
NM_004387.4(NKX2-5):c.605_606del (p.Leu202fs)
|
rs1554093461
|
|
NM_004408.4(DNM1):c.1075G>A (p.Gly359Arg)
|
rs1554774587
|
|
NM_004408.4(DNM1):c.1190G>A (p.Gly397Asp)
|
rs1554774708
|
|
NM_004408.4(DNM1):c.127G>A (p.Gly43Ser)
|
rs1554767313
|
|
NM_004408.4(DNM1):c.134G>A (p.Ser45Asn)
|
rs1554767317
|
|
NM_004408.4(DNM1):c.709C>T (p.Arg237Trp)
|
rs760270633
|
|
NM_004408.4(DNM1):c.713G>T (p.Ser238Ile)
|
rs1554773487
|
|
NM_004429.5(EFNB1):c.142A>T (p.Lys48Ter)
|
rs1556105875
|
|
NM_004446.3(EPRS1):c.4150C>T (p.Arg1384Ter)
|
|
|
NM_004453.4(ETFDH):c.1130T>C (p.Leu377Pro)
|
rs387907170
|
|
NM_004463.3(FGD1):c.1076del (p.Leu359fs)
|
|
|
NM_004463.3(FGD1):c.1636+1G>A
|
rs1569541211
|
|
NM_004463.3(FGD1):c.26dup (p.Ala10fs)
|
rs1557191602
|
|
NM_004463.3(FGD1):c.527del (p.Pro176fs)
|
rs756586058
|
|
NM_004463.3(FGD1):c.710del (p.Gly237fs)
|
|
|
NM_004463.3(FGD1):c.997C>T (p.Gln333Ter)
|
rs1557189592
|
|
NM_004484.4(GPC3):c.256C>T (p.Arg86Ter)
|
rs2076400520
|
|
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
|
|
|
NM_004523.4(KIF11):c.2697_2700del (p.Asn899fs)
|
rs1554863044
|
|
NM_004525.3(LRP2):c.7401del (p.Ala2468fs)
|
|
|
NM_004544.4(NDUFA10):c.858_862dup (p.Asn288fs)
|
|
|
NM_004551.3(NDUFS3):c.49dup (p.Ala17fs)
|
|
|
NM_004586.3(RPS6KA3):c.1522C>T (p.Gln508Ter)
|
rs1555928716
|
|
NM_004586.3(RPS6KA3):c.1612del (p.Arg538fs)
|
rs2067399344
|
|
NM_004586.3(RPS6KA3):c.1672C>T (p.Arg558Ter)
|
|
|
NM_004586.3(RPS6KA3):c.1699C>T (p.Gln567Ter)
|
rs1555927554
|
|
NM_004586.3(RPS6KA3):c.1859del (p.Asn620fs)
|
|
|
NM_004586.3(RPS6KA3):c.1970C>G (p.Ser657Ter)
|
rs2067184984
|
|
NM_004586.3(RPS6KA3):c.486G>A (p.Glu162=)
|
rs2068213764
|
|
NM_004586.3(RPS6KA3):c.712G>T (p.Glu238Ter)
|
rs1555939377
|
|
NM_004586.3(RPS6KA3):c.774+1G>A
|
rs1555939331
|
|
NM_004595.5(SMS):c.166G>A (p.Gly56Ser)
|
rs121434610
|
|
NM_004595.5(SMS):c.700C>T (p.Arg234Ter)
|
|
|
NM_004608.4(TBX6):c.699G>A (p.Trp233Ter)
|
|
|
NM_004618.5(TOP3A):c.1012C>T (p.Arg338Ter)
|
|
|
NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup)
|
rs193922941
|
|
NM_004646.4(NPHS1):c.3213del (p.Leu1072fs)
|
rs1420623853
|
|
NM_004713.6(NEMF):c.2020dup (p.Arg674fs)
|
|
|
NM_004713.6(NEMF):c.517del (p.Glu172_Ile173insTer)
|
|
|
NM_004722.4(AP4M1):c.727G>A (p.Gly243Ser)
|
rs1554380093
|
|
NM_004750.5(CRLF1):c.713dup (p.Pro239fs)
|
rs768727082
|
|
NM_004780.3(TCEAL1):c.196G>T (p.Glu66Ter)
|
|
|
NM_004782.4(SNAP29):c.354dup (p.Leu119fs)
|
rs751575036
|
|
NM_004820.5(CYP7B1):c.321_324del (p.Lys107fs)
|
rs770285398
|
|
NM_004826.4(ECEL1):c.110_155del (p.Phe37fs)
|
rs1341894581
|
|
NM_004830.4(MED23):c.815dup (p.Tyr272Ter)
|
|
|
NM_004859.4(CLTC):c.1843C>T (p.Gln615Ter)
|
rs2032737194
|
|
NM_004859.4(CLTC):c.2737_2738dup (p.Asp913fs)
|
rs797044884
|
|
NM_004859.4(CLTC):c.4420G>T (p.Glu1474Ter)
|
rs1555607504
|
|
NM_004859.4(CLTC):c.4485_4488del (p.Ala1496fs)
|
|
|
NM_004859.4(CLTC):c.4663C>T (p.Gln1555Ter)
|
rs1555607682
|
|
NM_004937.3(CTNS):c.841dup (p.Tyr281fs)
|
rs1411094034
|
|
NM_004947.5(DOCK3):c.382C>T (p.Gln128Ter)
|
rs1553749681
|
|
NM_004958.4(MTOR):c.5395G>A (p.Glu1799Lys)
|
rs863225264
|
|
NM_004958.4(MTOR):c.7238G>T (p.Ser2413Ile)
|
rs1553171141
|
|
NM_004960.4(FUS):c.1504del (p.Asp502fs)
|
rs1161032867
|
|
NM_004973.4(JARID2):c.1272del (p.Arg425fs)
|
|
|
NM_004973.4(JARID2):c.2533G>T (p.Glu845Ter)
|
|
|
NM_004973.4(JARID2):c.416del (p.Pro139fs)
|
|
|
NM_004974.4(KCNA2):c.1214C>T (p.Pro405Leu)
|
|
|
NM_004974.4(KCNA2):c.881G>A (p.Arg294His)
|
rs886041761
|
|
NM_004974.4(KCNA2):c.890G>A (p.Arg297Gln)
|
rs786205232
|
|
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met)
|
rs1555889162
|
|
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His)
|
rs797044872
|
|
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg)
|
rs104894359
|
|
NM_004985.5(KRAS):c.40G>A (p.Val14Ile)
|
rs104894365
|
|
NM_004999.4(MYO6):c.1975C>T (p.Arg659Ter)
|
rs1777073184
|
|
NM_005002.5(NDUFA9):c.394C>T (p.Arg132Ter)
|
|
|
NM_005006.7(NDUFS1):c.503del (p.Leu168fs)
|
|
|
NM_005026.5(PIK3CD):c.3061G>A (p.Glu1021Lys)
|
rs397518423
|
|
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)
|
rs587776934
|
|
NM_005045.4(RELN):c.1026C>A (p.Cys342Ter)
|
rs1554404013
|
|
NM_005094.4(SLC27A4):c.1774G>A (p.Gly592Arg)
|
rs869312967
|
|
NM_005121.3(MED13):c.3826C>T (p.Gln1276Ter)
|
rs2080121850
|
|
NM_005121.3(MED13):c.5002C>T (p.Arg1668Ter)
|
|
|
NM_005121.3(MED13):c.5969-1G>A
|
rs2079910913
|
|
NM_005121.3(MED13):c.722_726del (p.Pro241fs)
|
rs2080779329
|
|
NM_005149.3(TBX19):c.75_78del (p.Glu26fs)
|
rs760520604
|
|
NM_005188.4(CBL):c.1096-1G>C
|
rs397517076
|
|
NM_005199.5(CHRNG):c.117dup (p.Asn40fs)
|
rs797044677
|
|
NM_005214.5(CTLA4):c.151C>T (p.Arg51Ter)
|
rs606231417
|
|
NM_005215.4(DCC):c.2134_2135dup (p.Ala713fs)
|
rs2057418362
|
|
NM_005215.4(DCC):c.2540del (p.Pro847fs)
|
|
|
NM_005215.4(DCC):c.3061C>T (p.Arg1021Ter)
|
|
|
NM_005215.4(DCC):c.643C>T (p.Arg215Ter)
|
rs1180126622
|
|
NM_005235.3(ERBB4):c.1015_1034del (p.Thr339fs)
|
|
|
NM_005235.3(ERBB4):c.1776dup (p.Cys593fs)
|
|
|
NM_005249.5(FOXG1):c.1062del (p.Ser355fs)
|
rs1881817310
|
|
NM_005249.5(FOXG1):c.1082dup (p.Leu362fs)
|
rs1555321405
|
|
NM_005249.5(FOXG1):c.460dup (p.Glu154fs)
|
rs398124204
|
|
NM_005249.5(FOXG1):c.506del (p.Gly169fs)
|
rs1452295073
|
|
NM_005249.5(FOXG1):c.561C>A (p.Asn187Lys)
|
rs796052462
|
|
NM_005249.5(FOXG1):c.561C>G (p.Asn187Lys)
|
rs796052462
|
|
NM_005249.5(FOXG1):c.577G>A (p.Ala193Thr)
|
rs786205005
|
|
NM_005249.5(FOXG1):c.624C>G (p.Tyr208Ter)
|
rs267606826
|
|
NM_005249.5(FOXG1):c.717C>G (p.Phe239Leu)
|
rs1555321339
|
|
NM_005249.5(FOXG1):c.732_741del (p.His245fs)
|
rs1555321345
|
|
NM_005249.5(FOXG1):c.776C>G (p.Pro259Arg)
|
rs869312961
|
|
NM_005249.5(FOXG1):c.859A>T (p.Lys287Ter)
|
rs1555321367
|
|
NM_005251.3(FOXC2):c.361C>T (p.Arg121Cys)
|
rs1567571184
|
|
NM_005334.3(HCFC1):c.5860G>A (p.Gly1954Arg)
|
rs797044886
|
|
NM_005340.7(HINT1):c.184C>T (p.Gln62Ter)
|
rs397514492
|
|
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)
|
rs104894230
|
|
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val)
|
rs281875322
|
|
NM_005378.6(MYCN):c.1177C>T (p.Arg393Cys)
|
rs104893647
|
|
NM_005378.6(MYCN):c.328del (p.Val110fs)
|
|
|
NM_005378.6(MYCN):c.442del (p.Gln148fs)
|
rs886041801
|
|
NM_005378.6(MYCN):c.799del (p.Asp267fs)
|
rs1662837763
|
|
NM_005378.6(MYCN):c.950_951dup (p.Leu318fs)
|
|
|
NM_005402.4(RALA):c.73G>A (p.Val25Met)
|
rs1554297905
|
|
NM_005430.4(WNT1):c.884C>A (p.Ser295Ter)
|
rs387907356
|
|
NM_005445.4(SMC3):c.2750A>C (p.His917Pro)
|
rs797044861
|
|
NM_005450.6(NOG):c.358del (p.Ile120fs)
|
rs2052470053
|
|
NM_005450.6(NOG):c.4G>T (p.Glu2Ter)
|
rs2052465606
|
|
NM_005458.8(GABBR2):c.1699G>A (p.Ala567Thr)
|
rs922847767
|
|
NM_005499.3(UBA2):c.816_817del (p.Trp273fs)
|
rs1555729503
|
|
NM_005506.4(SCARB2):c.434_435dup (p.Trp146fs)
|
rs727502773
|
|
NM_005518.4(HMGCS2):c.67dup (p.Leu23fs)
|
|
|
NM_005546.4(ITK):c.913del (p.Tyr305fs)
|
rs1554102738
|
|
NM_005559.4(LAMA1):c.4120C>T (p.Gln1374Ter)
|
|
|
NM_005560.6(LAMA5):c.3364C>T (p.Gln1122Ter)
|
|
|
NM_005573.4(LMNB1):c.939+1G>A
|
rs1751587092
|
|
NM_005573.4(LMNB1):c.97A>G (p.Lys33Glu)
|
rs1750497172
|
|
NM_005585.5(SMAD6):c.533C>A (p.Ser178Ter)
|
|
|
NM_005618.4(DLL1):c.1525C>T (p.Arg509Ter)
|
rs1583152162
|
|
NM_005618.4(DLL1):c.601del (p.His201fs)
|
rs1783752911
|
|
NM_005618.4(DLL1):c.845del (p.Gly282fs)
|
|
|
NM_005629.4(SLC6A8):c.1016+2T>C
|
rs1557045066
|
|
NM_005629.4(SLC6A8):c.1136_1137del (p.Glu379fs)
|
|
|
NM_005629.4(SLC6A8):c.1347_1348del (p.Cys450fs)
|
|
|
NM_005629.4(SLC6A8):c.1540C>T (p.Arg514Ter)
|
rs122453113
|
|
NM_005633.4(SOS1):c.1642A>C (p.Ser548Arg)
|
rs397517149
|
|
NM_005639.3(SYT1):c.1103T>C (p.Ile368Thr)
|
rs1135402761
|
|
NM_005654.6(NR2F1):c.2T>C (p.Met1Thr)
|
rs886041216
|
|
NM_005654.6(NR2F1):c.425G>A (p.Arg142His)
|
rs1554074684
|
|
NM_005654.6(NR2F1):c.547del (p.Cys183fs)
|
|
|
NM_005654.6(NR2F1):c.94_157del (p.Gly32fs)
|
|
|
NM_005660.3(SLC35A2):c.795del (p.Phe265fs)
|
rs1557042808
|
|
NM_005670.4(EPM2A):c.788_791dup (p.His265fs)
|
|
|
NM_005670.4(EPM2A):c.788_792delinsCCCTTCTGCCCAC (p.Tyr263fs)
|
|
|
NM_005676.5(RBM10):c.1352_1353del (p.Glu451fs)
|
rs1131690789
|
|
NM_005676.5(RBM10):c.1473_1474del (p.Ser492fs)
|
rs1556779417
|
|
NM_005787.6(ALG3):c.991C>T (p.Gln331Ter)
|
rs1553827968
|
|
NM_005807.6(PRG4):c.3023_3024del (p.Lys1008fs)
|
rs745371972
|
|
NM_005807.6(PRG4):c.3660del (p.Asn1221fs)
|
rs1369814055
|
|
NM_005826.5(HNRNPR):c.1599_1600dup (p.Ala534fs)
|
|
|
NM_005850.5(SF3B4):c.1147del (p.His383fs)
|
rs387907186
|
|
NM_005850.5(SF3B4):c.1147dup (p.His383fs)
|
rs387907186
|
|
NM_005850.5(SF3B4):c.1163del (p.Pro388fs)
|
rs2092569095
|
|
NM_005850.5(SF3B4):c.535A>T (p.Lys179Ter)
|
rs2092591227
|
|
NM_005859.5(PURA):c.-20_142del (p.Met1_Gly48del)
|
|
|
NM_005859.5(PURA):c.101del (p.Gly34fs)
|
rs1763036977
|
|
NM_005859.5(PURA):c.127_130del (p.Ser43fs)
|
rs1763038687
|
|
NM_005859.5(PURA):c.153del (p.Leu54fs)
|
rs1554129039
|
|
NM_005859.5(PURA):c.506G>C (p.Arg169Pro)
|
rs1554129099
|
|
NM_005859.5(PURA):c.531del (p.Pro178fs)
|
rs2126749210
|
|
NM_005859.5(PURA):c.533dup (p.Gly179fs)
|
rs1763049893
|
|
NM_005859.5(PURA):c.583_602del (p.Leu195fs)
|
|
|
NM_005859.5(PURA):c.641_645dup (p.Ala216fs)
|
rs1763052510
|
|
NM_005859.5(PURA):c.677_678del (p.Val226fs)
|
rs1064796830
|
|
NM_005859.5(PURA):c.681_682insTGAGGAC (p.Asn228Ter)
|
rs1763053171
|
|
NM_005859.5(PURA):c.692T>C (p.Phe231Ser)
|
rs1554129113
|
|
NM_005859.5(PURA):c.7_11del (p.Asp3fs)
|
rs1554128999
|
|
NM_005859.5(PURA):c.927_940del (p.Thr310fs)
|
rs797044944
|
|
NM_005866.4(SIGMAR1):c.14_20dup (p.Arg8fs)
|
rs1820936580
|
|
NM_005866.4(SIGMAR1):c.304G>C (p.Glu102Gln)
|
rs387906829
|
|
NM_005886.3(KATNB1):c.131_147del (p.Arg44fs)
|
|
|
NM_005901.6(SMAD2):c.773dup (p.Asn258fs)
|
rs1555646987
|
|
NM_005901.6(SMAD2):c.935G>C (p.Cys312Ser)
|
rs797044882
|
|
NM_005909.5(MAP1B):c.1988del (p.Lys663fs)
|
|
|
NM_005909.5(MAP1B):c.6068_6069del (p.Tyr2023fs)
|
|
|
NM_005909.5(MAP1B):c.6106dup (p.Asp2036fs)
|
rs1747274021
|
|
NM_005918.4(MDH2):c.157dup (p.Leu53fs)
|
rs782759642
|
|
NM_005918.4(MDH2):c.566del (p.Pro189fs)
|
|
|
NM_005984.5(SLC25A1):c.381_382del (p.Cys127fs)
|
|
|
NM_005996.4(TBX3):c.1423C>T (p.Gln475Ter)
|
rs1060505020
|
|
NM_006005.3(WFS1):c.1941C>A (p.Cys647Ter)
|
|
|
NM_006005.3(WFS1):c.2051C>T (p.Ala684Val)
|
rs387906930
|
|
NM_006009.4(TUBA1A):c.1264C>T (p.Arg422Cys)
|
rs137853049
|
|
NM_006009.4(TUBA1A):c.283G>T (p.Gly95Cys)
|
rs1555162486
|
|
NM_006009.4(TUBA1A):c.367C>T (p.Arg123Cys)
|
rs886039513
|
|
NM_006009.4(TUBA1A):c.424G>A (p.Gly142Ser)
|
rs1555162407
|
|
NM_006009.4(TUBA1A):c.518C>T (p.Pro173Leu)
|
rs1565627304
|
|
NM_006009.4(TUBA1A):c.5G>A (p.Arg2His)
|
rs587784491
|
|
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His)
|
rs1057517843
|
|
NM_006009.4(TUBA1A):c.652G>A (p.Asp218Asn)
|
rs1057517858
|
|
NM_006009.4(TUBA1A):c.790C>T (p.Arg264Cys)
|
rs137853043
|
|
NM_006015.6(ARID1A):c.1251C>G (p.Tyr417Ter)
|
|
|
NM_006015.6(ARID1A):c.3826C>T (p.Arg1276Ter)
|
|
|
NM_006015.6(ARID1A):c.5329G>T (p.Glu1777Ter)
|
|
|
NM_006019.4(TCIRG1):c.117+4A>T
|
rs751881962
|
|
NM_006031.6(PCNT):c.1507C>T (p.Gln503Ter)
|
rs1555954069
|
|
NM_006031.6(PCNT):c.4702G>T (p.Glu1568Ter)
|
rs1217566598
|
|
NM_006035.4(CDC42BPB):c.1411del (p.Leu471fs)
|
|
|
NM_006059.4(LAMC3):c.1262C>A (p.Ser421Ter)
|
|
|
NM_006059.4(LAMC3):c.1648C>T (p.Gln550Ter)
|
|
|
NM_006059.4(LAMC3):c.3181del (p.Asp1061fs)
|
rs1554789671
|
|
NM_006086.4(TUBB3):c.1138C>T (p.Arg380Cys)
|
rs864321717
|
|
NM_006086.4(TUBB3):c.523G>C (p.Val175Leu)
|
rs1555625571
|
|
NM_006087.4(TUBB4A):c.467G>T (p.Arg156Leu)
|
rs587777429
|
|
NM_006087.4(TUBB4A):c.785G>A (p.Arg262His)
|
rs886039470
|
|
NM_006118.4(HAX1):c.430dup (p.Val144fs)
|
rs770288337
|
|
NM_006147.4(IRF6):c.1060+1G>A
|
rs781506407
|
|
NM_006158.5(NEFL):c.23C>T (p.Pro8Leu)
|
rs61491953
|
|
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser)
|
rs28928910
|
|
NM_006186.4(NR4A2):c.325dup (p.Gln109fs)
|
rs774629025
|
|
NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys)
|
rs867262025
|
|
NM_006236.3(POU3F3):c.1240_1243del (p.Ile413_Glu414insTer)
|
|
|
NM_006236.3(POU3F3):c.614_620dup (p.Ser208fs)
|
|
|
NM_006245.4(PPP2R5D):c.1258G>A (p.Glu420Lys)
|
rs863225080
|
|
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
|
|
|
NM_006245.4(PPP2R5D):c.598G>A (p.Glu200Lys)
|
rs863225079
|
|
NM_006245.4(PPP2R5D):c.752A>C (p.Asp251Ala)
|
rs1064794719
|
|
NM_006265.3(RAD21):c.1222G>T (p.Gly408Ter)
|
rs1411614521
|
|
NM_006268.5(DPF2):c.904+1G>A
|
rs1854517568
|
|
NM_006269.2(RP1):c.2749C>T (p.Gln917Ter)
|
rs878853326
|
|
NM_006269.2(RP1):c.458dup (p.Arg154fs)
|
rs781249059
|
|
NM_006303.4(AIMP2):c.72_73del (p.Met24fs)
|
rs1786357576
|
|
NM_006303.4(AIMP2):c.75C>A (p.Tyr25Ter)
|
rs1786358808
|
|
NM_006306.4(SMC1A):c.1609del (p.Val537fs)
|
rs1556889640
|
|
NM_006306.4(SMC1A):c.1990del (p.Arg664fs)
|
rs1556889534
|
|
NM_006306.4(SMC1A):c.2329T>C (p.Phe777Leu)
|
rs1556889236
|
|
NM_006306.4(SMC1A):c.3103C>T (p.Arg1035Ter)
|
rs1556886124
|
|
NM_006306.4(SMC1A):c.3196C>T (p.Arg1066Cys)
|
rs797044896
|
|
NM_006346.4(PIBF1):c.1974_1977del (p.Asn658fs)
|
|
|
NM_006348.5(COG5):c.611_613delinsTAGTGGAATT (p.Ala204fs)
|
rs1563018529
|
|
NM_006397.3(RNASEH2A):c.557G>A (p.Arg186Gln)
|
rs753679297
|
|
NM_006415.4(SPTLC1):c.398G>A (p.Cys133Tyr)
|
rs119482081
|
|
NM_006420.3(ARFGEF2):c.3758-2A>C
|
rs2091501415
|
|
NM_006421.5(ARFGEF1):c.3814C>T (p.Arg1272Ter)
|
|
|
NM_006421.5(ARFGEF1):c.5164C>T (p.Gln1722Ter)
|
|
|
NM_006432.5(NPC2):c.58G>T (p.Glu20Ter)
|
rs80358260
|
|
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer)
|
rs587780315
|
|
NM_006493.4(CLN5):c.777_778del (p.Phe260fs)
|
rs786204644
|
|
NM_006494.4(ERF):c.266A>G (p.Tyr89Cys)
|
rs886041001
|
|
NM_006494.4(ERF):c.619C>T (p.Arg207Ter)
|
rs1555750795
|
|
NM_006494.4(ERF):c.697C>T (p.Arg233Ter)
|
rs2036401878
|
|
NM_006494.4(ERF):c.785del (p.Pro262fs)
|
rs1555750721
|
|
NM_006494.4(ERF):c.787C>T (p.Gln263Ter)
|
|
|
NM_006494.4(ERF):c.891_892del (p.Gly299fs)
|
rs587777007
|
|
NM_006502.3(POLH):c.512del (p.Leu171fs)
|
rs1554140189
|
|
NM_006516.4(SLC2A1):c.1119dup (p.Gly374fs)
|
|
|
NM_006516.4(SLC2A1):c.1198C>T (p.Arg400Cys)
|
rs796053263
|
|
NM_006516.4(SLC2A1):c.1236G>A (p.Trp412Ter)
|
rs1557645002
|
|
NM_006516.4(SLC2A1):c.1263C>A (p.Cys421Ter)
|
rs1643441134
|
|
NM_006516.4(SLC2A1):c.1303ATC[1] (p.Ile436del)
|
rs864309522
|
|
NM_006516.4(SLC2A1):c.1399_1405dup (p.Gln469fs)
|
rs1264369249
|
|
NM_006516.4(SLC2A1):c.1A>T (p.Met1Leu)
|
|
|
NM_006516.4(SLC2A1):c.257del (p.Phe86fs)
|
rs1643484307
|
|
NM_006516.4(SLC2A1):c.481C>T (p.Gln161Ter)
|
rs1413339367
|
|
NM_006516.4(SLC2A1):c.558G>A (p.Trp186Ter)
|
rs2124449417
|
|
NM_006516.4(SLC2A1):c.679+1G>C
|
rs1553156086
|
|
NM_006516.4(SLC2A1):c.680-11G>A
|
rs1259158687
|
|
NM_006516.4(SLC2A1):c.808C>T (p.Gln270Ter)
|
rs1553156053
|
|
NM_006516.4(SLC2A1):c.988C>T (p.Arg330Ter)
|
|
|
NM_006516.4(SLC2A1):c.997C>T (p.Arg333Trp)
|
rs80359825
|
|
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys)
|
rs587784384
|
|
NM_006517.5(SLC16A2):c.1468G>A (p.Gly490Arg)
|
rs794727799
|
|
NM_006517.5(SLC16A2):c.1583del (p.Leu528fs)
|
rs1555990320
|
|
NM_006517.5(SLC16A2):c.28G>T (p.Glu10Ter)
|
|
|
NM_006517.5(SLC16A2):c.359_360del (p.Ser120fs)
|
rs1555979596
|
|
NM_006517.5(SLC16A2):c.383T>C (p.Leu128Pro)
|
rs1555979604
|
|
NM_006517.5(SLC16A2):c.644C>A (p.Pro215Gln)
|
rs759410438
|
|
NM_006517.5(SLC16A2):c.781C>T (p.Gln261Ter)
|
rs1930459512
|
|
NM_006521.6(TFE3):c.560C>T (p.Thr187Met)
|
rs2064742925
|
|
NM_006545.5(NPRL2):c.100C>T (p.Arg34Ter)
|
rs886037963
|
|
NM_006565.4(CTCF):c.1102C>T (p.Arg368Cys)
|
rs1555535156
|
|
NM_006565.4(CTCF):c.1133C>T (p.Pro378Leu)
|
rs2142847512
|
|
NM_006565.4(CTCF):c.1402_1415del (p.Lys467_Lys468insTer)
|
rs2052290589
|
|
NM_006565.4(CTCF):c.1456C>T (p.Gln486Ter)
|
rs1555535739
|
|
NM_006565.4(CTCF):c.1699C>T (p.Arg567Trp)
|
rs879255516
|
|
NM_006565.4(CTCF):c.615_618del (p.Lys206fs)
|
rs1555534147
|
|
NM_006565.4(CTCF):c.75C>A (p.Tyr25Ter)
|
rs1555534067
|
|
NM_006567.5(FARS2):c.298C>T (p.Gln100Ter)
|
rs1428625375
|
|
NM_006567.5(FARS2):c.801C>G (p.Tyr267Ter)
|
rs761709212
|
|
NM_006593.4(TBR1):c.165del (p.Thr56fs)
|
|
|
NM_006593.4(TBR1):c.667G>C (p.Glu223Gln)
|
rs1553510215
|
|
NM_006618.5(KDM5B):c.1538G>A (p.Trp513Ter)
|
|
|
NM_006618.5(KDM5B):c.1558dup (p.Tyr520fs)
|
|
|
NM_006618.5(KDM5B):c.2950C>T (p.Arg984Ter)
|
|
|
NM_006618.5(KDM5B):c.3328del (p.Glu1110fs)
|
rs1655058321
|
|
NM_006618.5(KDM5B):c.3727C>T (p.Arg1243Ter)
|
rs869312703
|
|
NM_006618.5(KDM5B):c.390dup (p.Phe131fs)
|
|
|
NM_006618.5(KDM5B):c.4276C>T (p.Arg1426Ter)
|
|
|
NM_006618.5(KDM5B):c.814_817dup (p.Met273fs)
|
|
|
NM_006618.5(KDM5B):c.906del (p.Ala303fs)
|
|
|
NM_006623.4(PHGDH):c.1063C>T (p.Gln355Ter)
|
rs979237677
|
|
NM_006642.5(SDCCAG8):c.397G>T (p.Glu133Ter)
|
rs768207230
|
|
NM_006662.3(SRCAP):c.1358dup (p.Ala454fs)
|
|
|
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter)
|
rs199469465
|
|
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter)
|
rs199469464
|
|
NM_006662.3(SRCAP):c.7376del (p.Pro2459fs)
|
rs1555465942
|
|
NM_006662.3(SRCAP):c.7549del (p.Gln2517fs)
|
rs199469466
|
|
NM_006662.3(SRCAP):c.7727C>A (p.Ser2576Ter)
|
rs1555465966
|
|
NM_006734.4(HIVEP2):c.3469C>T (p.Gln1157Ter)
|
|
|
NM_006734.4(HIVEP2):c.5835del (p.Leu1946fs)
|
rs1775199259
|
|
NM_006734.4(HIVEP2):c.6964C>T (p.Gln2322Ter)
|
rs1554274371
|
|
NM_006736.6(DNAJB2):c.229+2T>A
|
|
|
NM_006765.4(TUSC3):c.529C>T (p.Gln177Ter)
|
|
|
NM_006766.5(KAT6A):c.1900A>T (p.Lys634Ter)
|
rs1822469455
|
|
NM_006766.5(KAT6A):c.2127del (p.Lys709fs)
|
rs1822257059
|
|
NM_006766.5(KAT6A):c.214A>T (p.Lys72Ter)
|
|
|
NM_006766.5(KAT6A):c.2203C>T (p.Arg735Ter)
|
|
|
NM_006766.5(KAT6A):c.3116_3117del (p.Ile1038_Ser1039insTer)
|
rs786200959
|
|
NM_006766.5(KAT6A):c.3286dup (p.Cys1096fs)
|
rs1821898026
|
|
NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter)
|
rs786200960
|
|
NM_006766.5(KAT6A):c.3395_3396del (p.Asp1132fs)
|
rs1821770366
|
|
NM_006766.5(KAT6A):c.3692del (p.Ala1231fs)
|
rs1821750171
|
|
NM_006766.5(KAT6A):c.3928C>T (p.Gln1310Ter)
|
rs777592513
|
|
NM_006766.5(KAT6A):c.4228_4232del (p.Lys1410fs)
|
rs1554679889
|
|
NM_006766.5(KAT6A):c.4297C>T (p.Gln1433Ter)
|
|
|
NM_006766.5(KAT6A):c.442C>T (p.Arg148Ter)
|
rs759900272
|
|
NM_006766.5(KAT6A):c.5353del (p.Ser1785fs)
|
|
|
NM_006766.5(KAT6A):c.658C>T (p.Arg220Ter)
|
rs1395351821
|
|
NM_006772.3(SYNGAP1):c.1089C>A (p.Tyr363Ter)
|
|
|
NM_006772.3(SYNGAP1):c.1167_1168del (p.Gly391fs)
|
rs1060503378
|
|
NM_006772.3(SYNGAP1):c.1269T>G (p.Tyr423Ter)
|
rs1561785045
|
|
NM_006772.3(SYNGAP1):c.1284T>A (p.Tyr428Ter)
|
rs2151170078
|
|
NM_006772.3(SYNGAP1):c.1495del (p.Arg499fs)
|
rs1554121353
|
|
NM_006772.3(SYNGAP1):c.1564G>T (p.Glu522Ter)
|
|
|
NM_006772.3(SYNGAP1):c.1630C>T (p.Arg544Ter)
|
rs1554121443
|
|
NM_006772.3(SYNGAP1):c.1641_1642del (p.Cys547_Glu548delinsTer)
|
rs2151172644
|
|
NM_006772.3(SYNGAP1):c.1735C>T (p.Arg579Ter)
|
rs121918316
|
|
NM_006772.3(SYNGAP1):c.1761del (p.Arg587fs)
|
|
|
NM_006772.3(SYNGAP1):c.1891C>T (p.Gln631Ter)
|
rs1554121729
|
|
NM_006772.3(SYNGAP1):c.2293del (p.Ser765fs)
|
rs1761050922
|
|
NM_006772.3(SYNGAP1):c.2354dup (p.Leu786fs)
|
|
|
NM_006772.3(SYNGAP1):c.2387del (p.Pro796fs)
|
rs1581995425
|
|
NM_006772.3(SYNGAP1):c.2793_2794del (p.Phe932fs)
|
rs1554122252
|
|
NM_006772.3(SYNGAP1):c.2916del (p.Asp974fs)
|
rs1064796547
|
|
NM_006772.3(SYNGAP1):c.2946T>A (p.Tyr982Ter)
|
|
|
NM_006772.3(SYNGAP1):c.3233_3236del (p.Val1078fs)
|
rs1554122341
|
|
NM_006772.3(SYNGAP1):c.333del (p.Lys114fs)
|
rs1131691979
|
|
NM_006772.3(SYNGAP1):c.3408+1G>A
|
rs1554122402
|
|
NM_006772.3(SYNGAP1):c.3416dup (p.Thr1140fs)
|
rs1554122458
|
|
NM_006772.3(SYNGAP1):c.3642del (p.Lys1215fs)
|
rs1554122710
|
|
NM_006772.3(SYNGAP1):c.3665_3669dup (p.Leu1224fs)
|
rs1761210688
|
|
NM_006772.3(SYNGAP1):c.3706C>T (p.Gln1236Ter)
|
rs1554122729
|
|
NM_006772.3(SYNGAP1):c.3718C>T (p.Arg1240Ter)
|
rs869312955
|
|
NM_006772.3(SYNGAP1):c.403C>T (p.Arg135Ter)
|
rs1131692154
|
|
NM_006772.3(SYNGAP1):c.434_447dup (p.Leu150fs)
|
|
|
NM_006772.3(SYNGAP1):c.43del (p.Ala15fs)
|
rs1554304258
|
|
NM_006772.3(SYNGAP1):c.509+1G>A
|
rs1561781989
|
|
NM_006772.3(SYNGAP1):c.510-2A>G
|
rs1554120894
|
|
NM_006772.3(SYNGAP1):c.628_631dup (p.Ser211fs)
|
rs1554120939
|
|
NM_006772.3(SYNGAP1):c.698_699dup (p.Arg234fs)
|
rs1554120966
|
|
NM_006852.6(TLK2):c.1189-2A>G
|
|
|
NM_006852.6(TLK2):c.1746del (p.Ala583fs)
|
rs1555661506
|
|
NM_006852.6(TLK2):c.713del (p.Leu238fs)
|
rs2078645664
|
|
NM_006852.6(TLK2):c.859_860del (p.Arg286_Asp287insTer)
|
rs2079640097
|
|
NM_006891.4(CRYGD):c.418C>T (p.Arg140Ter)
|
rs1337897299
|
|
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly)
|
rs869025193
|
|
NM_006912.6(RIT1):c.247A>C (p.Thr83Pro)
|
rs869025195
|
|
NM_006912.6(RIT1):c.270G>T (p.Met90Ile)
|
rs483352822
|
|
NM_006914.4(RORB):c.218T>C (p.Leu73Pro)
|
rs869312971
|
|
NM_006914.4(RORB):c.640C>T (p.Arg214Ter)
|
rs1824166369
|
|
NM_006922.4(SCN3A):c.1318C>T (p.Gln440Ter)
|
rs797044933
|
|
NM_006940.6(SOX5):c.1477C>T (p.Arg493Ter)
|
rs895607185
|
|
NM_006940.6(SOX5):c.1613C>G (p.Ser538Ter)
|
rs1591909421
|
|
NM_006940.6(SOX5):c.622C>T (p.Gln208Ter)
|
rs1555307370
|
|
NM_006940.6(SOX5):c.747_748del (p.Arg250fs)
|
rs1555301854
|
|
NM_006940.6(SOX5):c.931+1G>C
|
rs998320959
|
|
NM_006946.4(SPTBN2):c.1915G>T (p.Glu639Ter)
|
rs769987150
|
|
NM_006946.4(SPTBN2):c.2250_2252del (p.Tyr750_Gln751delinsTer)
|
|
|
NM_006950.3(SYN1):c.1310del (p.Pro437fs)
|
rs1569322834
|
|
NM_007055.4(POLR3A):c.685C>T (p.Arg229Ter)
|
|
|
NM_007059.4(KPTN):c.714_731dup (p.Met241_Gln246dup)
|
rs587777148
|
|
NM_007103.4(NDUFV1):c.153G>A (p.Trp51Ter)
|
|
|
NM_007118.4(TRIO):c.2302C>T (p.Gln768Ter)
|
rs1554062562
|
|
NM_007118.4(TRIO):c.2359C>T (p.Gln787Ter)
|
rs1554062588
|
|
NM_007118.4(TRIO):c.3119G>A (p.Trp1040Ter)
|
rs1554064863
|
|
NM_007118.4(TRIO):c.3233G>A (p.Arg1078Gln)
|
rs1745369142
|
|
NM_007118.4(TRIO):c.4292A>T (p.Lys1431Met)
|
rs1747351918
|
|
NM_007118.4(TRIO):c.5274_5283del (p.Gly1759fs)
|
rs1753758481
|
|
NM_007118.4(TRIO):c.7353_7354insCCAAGCCCCGGGCC (p.Gly2452fs)
|
|
|
NM_007126.5(VCP):c.464G>A (p.Arg155His)
|
rs121909329
|
|
NM_007129.5(ZIC2):c.85_86insGGGGGGGGGG (p.Ala29fs)
|
|
|
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu)
|
|
|
NM_007198.4(PLPBP):c.35dup (p.Val13fs)
|
|
|
NM_007217.4(PDCD10):c.299del (p.Phe100fs)
|
rs1720729752
|
|
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs)
|
rs587784365
|
|
NM_007254.4(PNKP):c.1255_1258dup (p.Ala420fs)
|
rs768847609
|
|
NM_007254.4(PNKP):c.1278_1291del (p.Asp427fs)
|
rs764379536
|
|
NM_007254.4(PNKP):c.1288_1294dup (p.Ala432fs)
|
rs796052860
|
|
NM_007254.4(PNKP):c.1317_1321dup (p.Ala441fs)
|
rs796052862
|
|
NM_007255.3(B4GALT7):c.277dup (p.His93fs)
|
rs879255634
|
|
NM_007317.3(KIF22):c.446G>A (p.Arg149Gln)
|
rs193922922
|
|
NM_007325.5(GRIA3):c.1180C>T (p.Arg394Ter)
|
rs2147383715
|
|
NM_007325.5(GRIA3):c.1266del (p.Arg423fs)
|
|
|
NM_007327.4(GRIN1):c.1643G>A (p.Arg548Gln)
|
rs1554770044
|
|
NM_007327.4(GRIN1):c.1645A>C (p.Ser549Arg)
|
rs1554770046
|
|
NM_007327.4(GRIN1):c.1958C>G (p.Ala653Gly)
|
rs1554770258
|
|
NM_007327.4(GRIN1):c.2414del (p.Pro805fs)
|
rs766786160
|
|
NM_007327.4(GRIN1):c.2443G>A (p.Gly815Arg)
|
rs797044925
|
|
NM_007327.4(GRIN1):c.2530C>T (p.Arg844Cys)
|
rs1554770667
|
|
NM_007363.5(NONO):c.1131G>A (p.Ala377=)
|
rs869025343
|
|
NM_007363.5(NONO):c.550C>T (p.Arg184Ter)
|
rs1602387702
|
|
NM_012062.5(DNM1L):c.1207C>T (p.Arg403Cys)
|
rs863223953
|
|
NM_012123.4(MTO1):c.734_735del (p.Lys245fs)
|
rs755954353
|
|
NM_012123.4(MTO1):c.939-2A>G
|
|
|
NM_012154.5(AGO2):c.2252G>A (p.Cys751Tyr)
|
rs2072680461
|
|
NM_012233.3(RAB3GAP1):c.1388_1389del (p.Cys463fs)
|
rs1282248700
|
|
NM_012233.3(RAB3GAP1):c.748+1G>A
|
rs587776651
|
|
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup)
|
rs1591495767
|
|
NM_012280.4(FTSJ1):c.133del (p.Ala45fs)
|
|
|
NM_012280.4(FTSJ1):c.34T>A (p.Tyr12Asn)
|
rs797044864
|
|
NM_012280.4(FTSJ1):c.352del (p.Ala118fs)
|
|
|
NM_012281.3(KCND2):c.1210G>A (p.Val404Met)
|
rs587777631
|
|
NM_012309.5(SHANK2):c.277C>T (p.Gln93Ter)
|
rs1555100954
|
|
NM_012330.4(KAT6B):c.2616del (p.Leu873fs)
|
|
|
NM_012330.4(KAT6B):c.3264dup (p.Glu1089fs)
|
rs869312962
|
|
NM_012330.4(KAT6B):c.3373-2A>C
|
|
|
NM_012330.4(KAT6B):c.3769_3772del (p.Lys1258fs)
|
rs199470470
|
|
NM_012330.4(KAT6B):c.3788_3789del (p.Lys1263fs)
|
rs199470472
|
|
NM_012330.4(KAT6B):c.4102dup (p.Glu1368fs)
|
rs1554845598
|
|
NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs)
|
rs199470477
|
|
NM_012330.4(KAT6B):c.4726_4729dup (p.Arg1577fs)
|
rs1846150514
|
|
NM_012330.4(KAT6B):c.5302C>T (p.Gln1768Ter)
|
|
|
NM_012414.4(RAB3GAP2):c.2213-1G>A
|
rs1553275644
|
|
NM_012434.5(SLC17A5):c.903C>A (p.Tyr301Ter)
|
|
|
NM_012479.4(YWHAG):c.170G>A (p.Arg57His)
|
rs2115589045
|
|
NM_013275.6(ANKRD11):c.1355del (p.Asn452fs)
|
rs1597465118
|
|
NM_013275.6(ANKRD11):c.1356_1359del (p.Asn452fs)
|
|
|
NM_013275.6(ANKRD11):c.1381_1382del (p.Glu461fs)
|
rs1555529734
|
|
NM_013275.6(ANKRD11):c.1381_1384del (p.Glu461fs)
|
rs1597464953
|
|
NM_013275.6(ANKRD11):c.1389del (p.Gly464fs)
|
rs1555529726
|
|
NM_013275.6(ANKRD11):c.1462_1463del (p.Ser488fs)
|
rs1555529645
|
|
NM_013275.6(ANKRD11):c.1623_1630del (p.His542fs)
|
rs1555529572
|
|
NM_013275.6(ANKRD11):c.1903_1907del (p.Lys635fs)
|
rs886041125
|
|
NM_013275.6(ANKRD11):c.2130G>A (p.Trp710Ter)
|
rs1555529297
|
|
NM_013275.6(ANKRD11):c.2197C>T (p.Arg733Ter)
|
rs886041791
|
|
NM_013275.6(ANKRD11):c.226G>A (p.Glu76Lys)
|
rs1555535454
|
|
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.2494del (p.Ser832fs)
|
rs1555529052
|
|
NM_013275.6(ANKRD11):c.2518del (p.Arg840fs)
|
rs2034470669
|
|
NM_013275.6(ANKRD11):c.2611_2621del (p.Asp871fs)
|
|
|
NM_013275.6(ANKRD11):c.2750_2751del (p.Asn916_Ser917insTer)
|
|
|
NM_013275.6(ANKRD11):c.3019C>T (p.Arg1007Ter)
|
rs752918694
|
|
NM_013275.6(ANKRD11):c.3085A>T (p.Lys1029Ter)
|
|
|
NM_013275.6(ANKRD11):c.3138T>A (p.Cys1046Ter)
|
rs1567574466
|
|
NM_013275.6(ANKRD11):c.3208_3209del (p.His1070fs)
|
rs2034416782
|
|
NM_013275.6(ANKRD11):c.3244C>T (p.Gln1082Ter)
|
rs2034413419
|
|
NM_013275.6(ANKRD11):c.3334dup (p.Ser1112fs)
|
rs1555528558
|
|
NM_013275.6(ANKRD11):c.3594del (p.Glu1199fs)
|
|
|
NM_013275.6(ANKRD11):c.3702_3705del (p.Lys1235fs)
|
rs1555528357
|
|
NM_013275.6(ANKRD11):c.3770_3771del (p.Lys1257fs)
|
rs886039477
|
|
NM_013275.6(ANKRD11):c.3910_3911dup (p.Ser1305fs)
|
|
|
NM_013275.6(ANKRD11):c.4091_4092del (p.Glu1364fs)
|
rs2034338452
|
|
NM_013275.6(ANKRD11):c.4114G>T (p.Glu1372Ter)
|
rs146474985
|
|
NM_013275.6(ANKRD11):c.4140C>G (p.Tyr1380Ter)
|
rs1555528040
|
|
NM_013275.6(ANKRD11):c.4189del (p.Leu1397fs)
|
|
|
NM_013275.6(ANKRD11):c.4384dup (p.Arg1462fs)
|
rs886041521
|
|
NM_013275.6(ANKRD11):c.4389_4390del (p.Lys1464fs)
|
rs1597451815
|
|
NM_013275.6(ANKRD11):c.4585A>T (p.Lys1529Ter)
|
|
|
NM_013275.6(ANKRD11):c.4619_4620del (p.Lys1540fs)
|
|
|
NM_013275.6(ANKRD11):c.4902del (p.Leu1635fs)
|
rs1555527497
|
|
NM_013275.6(ANKRD11):c.5537del (p.Leu1846fs)
|
rs1555526796
|
|
NM_013275.6(ANKRD11):c.5739_5766del (p.Glu1915fs)
|
|
|
NM_013275.6(ANKRD11):c.6792dup (p.Ala2265fs)
|
rs878855327
|
|
NM_013275.6(ANKRD11):c.6847C>T (p.Gln2283Ter)
|
rs1221781038
|
|
NM_013275.6(ANKRD11):c.6911_6936del (p.Glu2304fs)
|
|
|
NM_013275.6(ANKRD11):c.7244_7247del (p.Leu2415fs)
|
|
|
NM_013275.6(ANKRD11):c.7303del (p.Ala2435fs)
|
rs1555524870
|
|
NM_013275.6(ANKRD11):c.7327C>T (p.Gln2443Ter)
|
rs1555524861
|
|
NM_013275.6(ANKRD11):c.7470+2dup
|
|
|
NM_013275.6(ANKRD11):c.7487_7490dup (p.Ala2498fs)
|
|
|
NM_013275.6(ANKRD11):c.7535G>A (p.Arg2512Gln)
|
rs2033535934
|
|
NM_013275.6(ANKRD11):c.7569+1G>A
|
rs797044890
|
|
NM_013275.6(ANKRD11):c.7606C>T (p.Arg2536Trp)
|
rs2151701893
|
|
NM_013275.6(ANKRD11):c.7825C>T (p.Gln2609Ter)
|
rs797044900
|
|
NM_013296.5(GPSM2):c.485del (p.Pro162fs)
|
rs766556930
|
|
NM_013352.4(DSE):c.387del (p.Asp128_Tyr129insTer)
|
rs1781476734
|
|
NM_013382.7(POMT2):c.1712dup (p.Ile572fs)
|
rs780725241
|
|
NM_014023.4(WDR37):c.389C>T (p.Thr130Ile)
|
rs1589088703
|
|
NM_014112.5(TRPS1):c.1088T>G (p.Leu363Ter)
|
rs1554596397
|
|
NM_014112.5(TRPS1):c.1870C>T (p.Arg624Ter)
|
rs121908431
|
|
NM_014112.5(TRPS1):c.2725del (p.Cys909fs)
|
|
|
NM_014112.5(TRPS1):c.3203dup (p.Ser1069fs)
|
rs1812870694
|
|
NM_014112.5(TRPS1):c.3527dup (p.Leu1177fs)
|
rs1812861396
|
|
NM_014141.6(CNTNAP2):c.1315_1316del (p.Gln439fs)
|
|
|
NM_014141.6(CNTNAP2):c.1689_1690del (p.Cys563_Glu564delinsTer)
|
rs1554490549
|
|
NM_014141.6(CNTNAP2):c.2101G>T (p.Gly701Ter)
|
|
|
NM_014141.6(CNTNAP2):c.3331C>T (p.Gln1111Ter)
|
rs1159246607
|
|
NM_014141.6(CNTNAP2):c.3408C>A (p.Tyr1136Ter)
|
rs144003099
|
|
NM_014141.6(CNTNAP2):c.3556dup (p.Gln1186fs)
|
rs772883080
|
|
NM_014159.6(SETD2):c.4457_4460del
|
rs1553699115
|
|
NM_014159.7(SETD2):c.1828_1829del (p.Glu610fs)
|
rs2043155739
|
|
NM_014159.7(SETD2):c.3199C>T (p.Gln1067Ter)
|
|
|
NM_014159.7(SETD2):c.3439C>T (p.Gln1147Ter)
|
|
|
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp)
|
rs1057523157
|
|
NM_014225.6(PPP2R1A):c.536C>T (p.Pro179Leu)
|
rs786205228
|
|
NM_014225.6(PPP2R1A):c.544C>T (p.Arg182Trp)
|
rs786205227
|
|
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)
|
rs1555582065
|
|
NM_014252.4(SLC25A15):c.81del (p.Gln28fs)
|
|
|
NM_014334.4(FRRS1L):c.584_586del (p.Gly195del)
|
rs878853282
|
|
NM_014362.4(HIBCH):c.595G>T (p.Gly199Ter)
|
rs755786597
|
|
NM_014363.6(SACS):c.12673_12677del (p.Tyr4225fs)
|
|
|
NM_014363.6(SACS):c.1706G>A (p.Trp569Ter)
|
rs1555254256
|
|
NM_014363.6(SACS):c.3059dup (p.Ser1021fs)
|
rs1869136727
|
|
NM_014363.6(SACS):c.3356del (p.Pro1119fs)
|
rs1057517039
|
|
NM_014363.6(SACS):c.5151dup (p.Ser1718fs)
|
rs754439135
|
|
NM_014363.6(SACS):c.6155C>G (p.Ser2052Ter)
|
|
|
NM_014363.6(SACS):c.7139del (p.Asn2380fs)
|
rs1057516689
|
|
NM_014384.3(ACAD8):c.1176G>T (p.Arg392Ser)
|
|
|
NM_014384.3(ACAD8):c.616C>T (p.Arg206Ter)
|
|
|
NM_014425.5(INVS):c.1726C>T (p.Arg576Ter)
|
|
|
NM_014491.4(FOXP2):c.1031del (p.Gly344fs)
|
rs1805777437
|
|
NM_014491.4(FOXP2):c.1127_1128insT (p.Ser377fs)
|
|
|
NM_014491.4(FOXP2):c.197T>G (p.Leu66Ter)
|
rs1554412300
|
|
NM_014491.4(FOXP2):c.502C>T (p.Gln168Ter)
|
rs1563045683
|
|
NM_014491.4(FOXP2):c.982C>T (p.Arg328Ter)
|
rs121908378
|
|
NM_014495.4(ANGPTL3):c.950dup (p.Glu318fs)
|
|
|
NM_014515.7(CNOT2):c.683C>A (p.Ser228Ter)
|
|
|
NM_014516.4(CNOT3):c.1032dup (p.Ala345fs)
|
rs2074797352
|
|
NM_014516.4(CNOT3):c.1440dup (p.Gly481fs)
|
rs1555806893
|
|
NM_014516.4(CNOT3):c.76dup (p.Glu26fs)
|
|
|
NM_014633.5(CTR9):c.74C>G (p.Pro25Arg)
|
rs2135353126
|
|
NM_014712.3(SETD1A):c.154_155del (p.Ser52fs)
|
|
|
NM_014712.3(SETD1A):c.2002C>T (p.Arg668Ter)
|
|
|
NM_014712.3(SETD1A):c.214del (p.Arg72fs)
|
rs1555488653
|
|
NM_014727.3(KMT2B):c.1127_1130del (p.Lys376fs)
|
rs1969141028
|
|
NM_014727.3(KMT2B):c.12_24dup (p.Ser9fs)
|
rs1555727493
|
|
NM_014727.3(KMT2B):c.2425C>T (p.Gln809Ter)
|
rs1555729045
|
|
NM_014727.3(KMT2B):c.3145dup (p.Ala1049fs)
|
rs1969316263
|
|
NM_014727.3(KMT2B):c.3400C>T (p.Gln1134Ter)
|
rs1555730069
|
|
NM_014727.3(KMT2B):c.4053_4063del (p.Glu1351fs)
|
|
|
NM_014727.3(KMT2B):c.5724_5751del (p.Pro1909fs)
|
rs1555732564
|
|
NM_014727.3(KMT2B):c.6245_6266dup (p.Val2090fs)
|
rs1555732987
|
|
NM_014727.3(KMT2B):c.6552dup (p.Lys2185fs)
|
|
|
NM_014727.3(KMT2B):c.7513_7514del (p.Asn2505fs)
|
|
|
NM_014727.3(KMT2B):c.7759C>T (p.Arg2587Ter)
|
rs1555734923
|
|
NM_014738.6(TMEM94):c.2215C>T (p.Arg739Ter)
|
|
|
NM_014780.5(CUL7):c.2660+1G>C
|
rs765870874
|
|
NM_014795.4(ZEB2):c.1027C>T (p.Arg343Ter)
|
rs786204815
|
|
NM_014795.4(ZEB2):c.1387del (p.Val463fs)
|
rs1573717173
|
|
NM_014795.4(ZEB2):c.1426dup (p.Met476fs)
|
rs587776604
|
|
NM_014795.4(ZEB2):c.1537del (p.Leu513fs)
|
rs1553961697
|
|
NM_014795.4(ZEB2):c.175G>T (p.Glu59Ter)
|
|
|
NM_014795.4(ZEB2):c.1956C>A (p.Tyr652Ter)
|
rs587784563
|
|
NM_014795.4(ZEB2):c.2102C>A (p.Ser701Ter)
|
rs1703271038
|
|
NM_014795.4(ZEB2):c.2609C>A (p.Ser870Ter)
|
rs1553961516
|
|
NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter)
|
rs587784566
|
|
NM_014795.4(ZEB2):c.2856del (p.Arg953fs)
|
|
|
NM_014795.4(ZEB2):c.2894T>A (p.Leu965Ter)
|
rs797046120
|
|
NM_014795.4(ZEB2):c.3147del (p.Ser1050fs)
|
rs1703134890
|
|
NM_014795.4(ZEB2):c.362_363dup (p.Pro122fs)
|
|
|
NM_014795.4(ZEB2):c.637_640dup (p.Pro214fs)
|
|
|
NM_014795.4(ZEB2):c.823C>T (p.Gln275Ter)
|
rs587784570
|
|
NM_014795.4(ZEB2):c.909_910insTTTC (p.His304fs)
|
rs1703305657
|
|
NM_014795.4(ZEB2):c.916+1G>A
|
|
|
NM_014804.3(KIAA0753):c.757C>T (p.Arg253Ter)
|
|
|
NM_014804.3(KIAA0753):c.799C>T (p.Arg267Ter)
|
|
|
NM_014844.5(TECPR2):c.524_527delinsACTGGATTATAGCCA (p.Ile175fs)
|
|
|
NM_014845.6(FIG4):c.1239_1241inv (p.Tyr413_Ile414delinsTer)
|
|
|
NM_014845.6(FIG4):c.1373dup (p.Leu458fs)
|
rs770043095
|
|
NM_014845.6(FIG4):c.1808_1811dup (p.Pro605fs)
|
|
|
NM_014845.6(FIG4):c.1928T>A (p.Leu643Ter)
|
rs1488999396
|
|
NM_014845.6(FIG4):c.2299dup (p.Glu767fs)
|
rs1191997383
|
|
NM_014845.6(FIG4):c.592C>T (p.Gln198Ter)
|
|
|
NM_014845.6(FIG4):c.831_838del (p.Lys278fs)
|
rs786200937
|
|
NM_014846.4(WASHC5):c.232C>T (p.Gln78Ter)
|
rs1586390087
|
|
NM_014846.4(WASHC5):c.2439del (p.Val814fs)
|
|
|
NM_014865.4(NCAPD2):c.1384del (p.Ala462fs)
|
|
|
NM_014874.4(MFN2):c.1612C>T (p.Gln538Ter)
|
|
|
NM_014874.4(MFN2):c.1789G>T (p.Glu597Ter)
|
rs2100856157
|
|
NM_014874.4(MFN2):c.2219G>C (p.Trp740Ser)
|
rs28940292
|
|
NM_014874.4(MFN2):c.280C>T (p.Arg94Trp)
|
rs119103263
|
|
NM_014874.4(MFN2):c.281G>A (p.Arg94Gln)
|
rs28940291
|
|
NM_014874.4(MFN2):c.310C>T (p.Arg104Trp)
|
rs119103268
|
|
NM_014874.4(MFN2):c.674_680del (p.Leu225fs)
|
rs1060501915
|
|
NM_014918.5(CHSY1):c.1423C>T (p.Gln475Ter)
|
rs1555492492
|
|
NM_014921.5(ADGRL1):c.2567C>A (p.Ser856Ter)
|
|
|
NM_014921.5(ADGRL1):c.3414_3415del (p.Gly1139fs)
|
|
|
NM_014921.5(ADGRL1):c.614_615insGTTG (p.Val206fs)
|
|
|
NM_014927.5(CNKSR2):c.2250_2256del (p.Gly751fs)
|
|
|
NM_014946.4(SPAST):c.1066G>A (p.Glu356Lys)
|
rs1057519181
|
|
NM_014946.4(SPAST):c.1168A>G (p.Met390Val)
|
rs797044850
|
|
NM_014991.6(WDFY3):c.2158C>T (p.Arg720Ter)
|
rs1752233376
|
|
NM_014991.6(WDFY3):c.2883del (p.Lys961fs)
|
|
|
NM_014991.6(WDFY3):c.3382C>T (p.Arg1128Ter)
|
|
|
NM_014991.6(WDFY3):c.9597del (p.Asn3200fs)
|
|
|
NM_015001.3(SPEN):c.3721C>T (p.Arg1241Ter)
|
|
|
NM_015001.3(SPEN):c.373C>T (p.Arg125Ter)
|
|
|
NM_015001.3(SPEN):c.3793C>T (p.Arg1265Ter)
|
rs2071205857
|
|
NM_015001.3(SPEN):c.3976del (p.Lys1325_Ile1326insTer)
|
rs2071207771
|
|
NM_015001.3(SPEN):c.6061del (p.Gln2020_Ile2021insTer)
|
|
|
NM_015001.3(SPEN):c.6641_6642del (p.Glu2214fs)
|
rs2071236139
|
|
NM_015001.3(SPEN):c.6641del (p.Glu2214fs)
|
|
|
NM_015001.3(SPEN):c.6974_6975del (p.Leu2325fs)
|
rs2071239657
|
|
NM_015001.3(SPEN):c.8732del (p.Lys2911fs)
|
|
|
NM_015021.3(ZNF292):c.2605dup (p.Arg869fs)
|
|
|
NM_015021.3(ZNF292):c.3724del (p.Gln1242fs)
|
rs1775285095
|
|
NM_015021.3(ZNF292):c.3990del (p.Phe1330fs)
|
|
|
NM_015021.3(ZNF292):c.433del (p.Ser145fs)
|
rs1772907934
|
|
NM_015021.3(ZNF292):c.4837C>T (p.Gln1613Ter)
|
|
|
NM_015021.3(ZNF292):c.4897A>T (p.Lys1633Ter)
|
rs1775368255
|
|
NM_015021.3(ZNF292):c.5950_5956del (p.Ile1984fs)
|
|
|
NM_015021.3(ZNF292):c.6160_6161del (p.Glu2054fs)
|
rs1301328139
|
|
NM_015046.7(SETX):c.3399dup (p.Gly1134fs)
|
rs1554820931
|
|
NM_015046.7(SETX):c.5820del (p.Ala1941fs)
|
|
|
NM_015046.7(SETX):c.6421_6422del (p.Gln2141fs)
|
|
|
NM_015046.7(SETX):c.6729_6730del (p.His2243fs)
|
rs752122764
|
|
NM_015046.7(SETX):c.900del (p.Gly301fs)
|
rs1554822175
|
|
NM_015047.3(EMC1):c.2377-2A>G
|
rs2093442517
|
|
NM_015065.3(EXPH5):c.3640del (p.Cys1214fs)
|
|
|
NM_015076.5(CDK19):c.586A>G (p.Thr196Ala)
|
rs1779473650
|
|
NM_015100.4(POGZ):c.1180_1181del (p.Met394fs)
|
rs1057518170
|
|
NM_015100.4(POGZ):c.1522C>T (p.Arg508Ter)
|
rs1557901051
|
|
NM_015100.4(POGZ):c.1807dup (p.Ser603fs)
|
|
|
NM_015100.4(POGZ):c.2020del (p.Arg674fs)
|
|
|
NM_015100.4(POGZ):c.2092C>T (p.Arg698Ter)
|
rs1654081712
|
|
NM_015100.4(POGZ):c.2309dup (p.Tyr770Ter)
|
|
|
NM_015100.4(POGZ):c.2712dup (p.Ala905fs)
|
rs1553212978
|
|
NM_015100.4(POGZ):c.2729C>A (p.Ser910Ter)
|
rs1313319892
|
|
NM_015100.4(POGZ):c.2780dup (p.Leu927fs)
|
rs864321675
|
|
NM_015100.4(POGZ):c.2883dup (p.Gly962fs)
|
rs1553212626
|
|
NM_015100.4(POGZ):c.2935C>T (p.Arg979Ter)
|
rs864321674
|
|
NM_015100.4(POGZ):c.2989C>T (p.Arg997Ter)
|
rs1553212545
|
|
NM_015100.4(POGZ):c.3356T>A (p.Leu1119Ter)
|
|
|
NM_015100.4(POGZ):c.343_344dup (p.Gly116fs)
|
|
|
NM_015107.3(PHF8):c.2225dup (p.Ser742fs)
|
rs1557099144
|
|
NM_015166.4(MLC1):c.908_918delinsGCA (p.Val303fs)
|
rs2146772952
|
|
NM_015178.3(RHOBTB2):c.1465C>T (p.Arg489Trp)
|
rs1554504681
|
|
NM_015178.3(RHOBTB2):c.1466G>A (p.Arg489Gln)
|
rs1554504684
|
|
NM_015214.3(DDHD2):c.1877C>G (p.Ser626Ter)
|
|
|
NM_015215.4(CAMTA1):c.420del (p.Lys141fs)
|
rs1553288266
|
|
NM_015215.4(CAMTA1):c.501G>A (p.Trp167Ter)
|
|
|
NM_015215.4(CAMTA1):c.766C>T (p.Gln256Ter)
|
rs1553238271
|
|
NM_015294.6(TRIM37):c.1167C>G (p.Tyr389Ter)
|
rs2040987609
|
|
NM_015294.6(TRIM37):c.1225_1228del (p.Phe409fs)
|
rs761979292
|
|
NM_015295.3(SMCHD1):c.3274_3276+1del
|
rs2075161459
|
|
NM_015335.5(MED13L):c.1361C>G (p.Ser454Ter)
|
rs1555248020
|
|
NM_015335.5(MED13L):c.1690C>T (p.Arg564Ter)
|
rs1555247936
|
|
NM_015335.5(MED13L):c.1858_1860delinsCTCGAACA (p.Gly620fs)
|
rs1555247853
|
|
NM_015335.5(MED13L):c.2239-2A>G
|
rs1555247469
|
|
NM_015335.5(MED13L):c.2762del (p.Gly920_Leu921insTer)
|
|
|
NM_015335.5(MED13L):c.293_294del (p.Ile98fs)
|
rs1870200055
|
|
NM_015335.5(MED13L):c.3595_3596del (p.Arg1199fs)
|
|
|
NM_015335.5(MED13L):c.4087del (p.His1363fs)
|
|
|
NM_015335.5(MED13L):c.4921_4922del (p.Ser1641fs)
|
rs1877448690
|
|
NM_015335.5(MED13L):c.5365-1G>A
|
rs1876893450
|
|
NM_015335.5(MED13L):c.5796_5806del (p.Cys1932fs)
|
rs1876629983
|
|
NM_015335.5(MED13L):c.6280C>A (p.Pro2094Thr)
|
rs1555240376
|
|
NM_015335.5(MED13L):c.6331C>T (p.Gln2111Ter)
|
rs1555240361
|
|
NM_015335.5(MED13L):c.6336G>A (p.Trp2112Ter)
|
rs1555240359
|
|
NM_015335.5(MED13L):c.6418C>T (p.Gln2140Ter)
|
rs1555239936
|
|
NM_015338.6(ASXL1):c.1446dup (p.Val483fs)
|
rs1555911515
|
|
NM_015338.6(ASXL1):c.1544_1545del (p.Val515fs)
|
rs777537805
|
|
NM_015338.6(ASXL1):c.2763_2770delinsCAA (p.Val922fs)
|
rs1555912285
|
|
NM_015338.6(ASXL1):c.2791del (p.Glu931fs)
|
rs1555912296
|
|
NM_015338.6(ASXL1):c.3111G>A (p.Trp1037Ter)
|
rs1555912419
|
|
NM_015338.6(ASXL1):c.3595_3596dup (p.Pro1200fs)
|
|
|
NM_015338.6(ASXL1):c.4127dup (p.Pro1377fs)
|
rs1555912897
|
|
NM_015338.6(ASXL1):c.4243C>T (p.Arg1415Ter)
|
rs754129466
|
|
NM_015346.4(ZFYVE26):c.3935C>A (p.Ser1312Ter)
|
rs752283089
|
|
NM_015346.4(ZFYVE26):c.7195C>T (p.Gln2399Ter)
|
rs869312914
|
|
NM_015355.4(SUZ12):c.361C>T (p.Arg121Ter)
|
rs750383066
|
|
NM_015378.4(VPS13D):c.9757C>T (p.Arg3253Ter)
|
rs2101602721
|
|
NM_015386.3(COG4):c.1546G>A (p.Gly516Arg)
|
rs1555575860
|
|
NM_015443.4(KANSL1):c.1039_1057del (p.Thr347fs)
|
rs2046260021
|
|
NM_015443.4(KANSL1):c.1042C>T (p.Arg348Ter)
|
rs1427624649
|
|
NM_015443.4(KANSL1):c.1269del (p.Glu424fs)
|
rs1555574888
|
|
NM_015443.4(KANSL1):c.2020+1G>A
|
|
|
NM_015443.4(KANSL1):c.2519C>A (p.Ser840Ter)
|
|
|
NM_015443.4(KANSL1):c.916C>T (p.Gln306Ter)
|
rs281865468
|
|
NM_015465.5(GEMIN5):c.119del (p.Arg40fs)
|
|
|
NM_015465.5(GEMIN5):c.3429del (p.Ser1144fs)
|
|
|
NM_015465.5(GEMIN5):c.3931dup (p.Ser1311fs)
|
|
|
NM_015559.3(SETBP1):c.1408del (p.Lys469_Met470insTer)
|
rs1555706391
|
|
NM_015559.3(SETBP1):c.1765C>T (p.Arg589Ter)
|
rs1568235086
|
|
NM_015559.3(SETBP1):c.2572G>A (p.Glu858Lys)
|
rs1178702025
|
|
NM_015570.4(AUTS2):c.2075del (p.Gly692fs)
|
|
|
NM_015570.4(AUTS2):c.218del (p.Pro73fs)
|
|
|
NM_015570.4(AUTS2):c.856A>T (p.Lys286Ter)
|
rs1554480487
|
|
NM_015570.4(AUTS2):c.976C>T (p.Gln326Ter)
|
rs1789672491
|
|
NM_015599.3(PGM3):c.737A>G (p.Asn246Ser)
|
rs587777562
|
|
NM_015631.6(TCTN3):c.910dup (p.Thr304fs)
|
|
|
NM_015681.6(B9D1):c.307dup (p.Tyr103fs)
|
|
|
NM_015836.4(WARS2):c.313_317delinsG (p.Asn105fs)
|
|
|
NM_015898.4(ZBTB7A):c.522del (p.Ala175fs)
|
|
|
NM_015910.7(WDPCP):c.74del (p.Gln25fs)
|
|
|
NM_015937.6(PIGT):c.608_609del (p.Val203fs)
|
rs777937565
|
|
NM_016023.5(OTUD6B):c.527_528del (p.Val176fs)
|
rs1472577530
|
|
NM_016030.6(TRAPPC12):c.445C>T (p.Gln149Ter)
|
|
|
NM_016030.6(TRAPPC12):c.678dup (p.Phe227fs)
|
|
|
NM_016032.4(ZDHHC9):c.679del (p.Val226_Leu227insTer)
|
rs1556004813
|
|
NM_016032.4(ZDHHC9):c.743dup (p.Leu249fs)
|
rs1927671537
|
|
NM_016032.4(ZDHHC9):c.892C>T (p.Arg298Ter)
|
|
|
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter)
|
rs113993991
|
|
NM_016038.4(SBDS):c.373_374del (p.Lys125fs)
|
rs1793014648
|
|
NM_016038.4(SBDS):c.460-1G>A
|
rs1792969582
|
|
NM_016038.4(SBDS):c.53_56dup (p.Met20fs)
|
|
|
NM_016038.4(SBDS):c.613C>T (p.Gln205Ter)
|
|
|
NM_016103.4(SAR1B):c.336del (p.Glu113fs)
|
rs1765180391
|
|
NM_016121.5(KCTD3):c.648G>A (p.Trp216Ter)
|
|
|
NM_016156.6(MTMR2):c.1591G>T (p.Glu531Ter)
|
rs1863365049
|
|
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg)
|
rs1131692228
|
|
NM_016194.4(GNB5):c.1032C>G (p.Tyr344Ter)
|
rs749597091
|
|
NM_016194.4(GNB5):c.666G>A (p.Trp222Ter)
|
|
|
NM_016219.5(MAN1B1):c.79dup (p.Ala27fs)
|
rs1190243291
|
|
NM_016239.4(MYO15A):c.10373del (p.Leu3458fs)
|
rs1310479415
|
|
NM_016239.4(MYO15A):c.1661dup (p.Leu555fs)
|
rs1245338270
|
|
NM_016239.4(MYO15A):c.4057del (p.Leu1353fs)
|
rs770991317
|
|
NM_016239.4(MYO15A):c.406_407insAGTT (p.Trp136Ter)
|
rs1555537955
|
|
NM_016239.4(MYO15A):c.6440dup (p.Trp2148fs)
|
rs1555545225
|
|
NM_016284.5(CNOT1):c.76C>T (p.Arg26Ter)
|
rs1597562609
|
|
NM_016306.6(DNAJB11):c.724C>T (p.Arg242Ter)
|
|
|
NM_016327.3(UPB1):c.641del (p.Gly214fs)
|
|
|
NM_016529.6(ATP8A2):c.1761dup (p.Arg588fs)
|
rs1156904586
|
|
NM_016592.5(GNAS):c.263dup (p.His88fs)
|
rs1555868362
|
|
NM_016614.3(TDP2):c.580_581del (p.Gln194fs)
|
|
|
NM_016628.5(WAC):c.263_266del (p.Glu88fs)
|
rs864321689
|
|
NM_016628.5(WAC):c.305dup (p.His102fs)
|
|
|
NM_016628.5(WAC):c.374C>A (p.Ser125Ter)
|
rs864321692
|
|
NM_016955.4(SEPSECS):c.612dup (p.Val205fs)
|
rs1553881510
|
|
NM_016955.5(SEPSECS):c.808dup
|
rs776969714
|
|
NM_017547.4(FOXRED1):c.530_534del (p.Val177fs)
|
|
|
NM_017547.4(FOXRED1):c.612_615dup (p.Ala206fs)
|
rs398124308
|
|
NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr)
|
rs146664036
|
|
NM_017613.4(DONSON):c.916del (p.Leu306fs)
|
|
|
NM_017617.5(NOTCH1):c.3052del (p.Cys1018fs)
|
rs1554728529
|
|
NM_017617.5(NOTCH1):c.5950C>T (p.Arg1984Ter)
|
rs1554826746
|
|
NM_017635.5(KMT5B):c.2192del (p.Asn731fs)
|
|
|
NM_017635.5(KMT5B):c.658C>T (p.Arg220Ter)
|
rs1555028206
|
|
NM_017635.5(KMT5B):c.780_781del (p.Ala261fs)
|
rs1565226076
|
|
NM_017646.6(TRIT1):c.418del (p.Gln140fs)
|
|
|
NM_017654.4(SAMD9):c.2054G>A (p.Arg685Gln)
|
rs1064795431
|
|
NM_017654.4(SAMD9):c.2920G>A (p.Glu974Lys)
|
rs1554336981
|
|
NM_017662.5(TRPM6):c.143del (p.Asn48fs)
|
|
|
NM_017739.4(POMGNT1):c.1462C>T (p.Arg488Ter)
|
rs727504103
|
|
NM_017755.6(NSUN2):c.1071G>A (p.Trp357Ter)
|
|
|
NM_017755.6(NSUN2):c.1346_1352del (p.Thr449fs)
|
|
|
NM_017755.6(NSUN2):c.191del (p.Gly64fs)
|
|
|
NM_017755.6(NSUN2):c.679C>T (p.Gln227Ter)
|
rs387907190
|
|
NM_017755.6(NSUN2):c.790C>T (p.Arg264Ter)
|
rs868442196
|
|
NM_017777.4(MKS1):c.1408-34_1408-6del
|
rs386834043
|
|
NM_017780.4(CHD7):c.1808dup (p.Asn603fs)
|
rs1554588675
|
|
NM_017780.4(CHD7):c.2413del (p.Ile805fs)
|
|
|
NM_017780.4(CHD7):c.2544_2546delinsTG (p.Lys848fs)
|
|
|
NM_017780.4(CHD7):c.2867del (p.Ser956fs)
|
rs1804068191
|
|
NM_017780.4(CHD7):c.2942del (p.Phe981fs)
|
|
|
NM_017780.4(CHD7):c.3065_3066dup (p.Ala1023fs)
|
rs1804096857
|
|
NM_017780.4(CHD7):c.3221_3222insA (p.Tyr1075fs)
|
rs1804153046
|
|
NM_017780.4(CHD7):c.3398C>T (p.Thr1133Met)
|
rs1064793083
|
|
NM_017780.4(CHD7):c.3414_3430del (p.Gln1138fs)
|
rs1554599036
|
|
NM_017780.4(CHD7):c.3623T>A (p.Val1208Asp)
|
rs886040988
|
|
NM_017780.4(CHD7):c.3779-2A>G
|
|
|
NM_017780.4(CHD7):c.3839_3840del (p.Phe1280fs)
|
|
|
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter)
|
rs587783442
|
|
NM_017780.4(CHD7):c.469C>T (p.Arg157Ter)
|
rs794727293
|
|
NM_017780.4(CHD7):c.4702del (p.Ala1567_Val1568insTer)
|
|
|
NM_017780.4(CHD7):c.5023C>T (p.Gln1675Ter)
|
rs797045467
|
|
NM_017780.4(CHD7):c.5050G>A (p.Gly1684Ser)
|
rs1554602465
|
|
NM_017780.4(CHD7):c.5114dup (p.Val1706fs)
|
rs1554602564
|
|
NM_017780.4(CHD7):c.5167dup (p.Gln1723fs)
|
rs797044919
|
|
NM_017780.4(CHD7):c.5251del (p.Glu1751fs)
|
|
|
NM_017780.4(CHD7):c.5357G>A (p.Trp1786Ter)
|
rs1805338299
|
|
NM_017780.4(CHD7):c.5405-7G>A
|
rs398124321
|
|
NM_017780.4(CHD7):c.5426T>G (p.Met1809Arg)
|
rs1554603550
|
|
NM_017780.4(CHD7):c.5534+1G>A
|
rs1554603589
|
|
NM_017780.4(CHD7):c.6070C>T (p.Arg2024Ter)
|
rs1360515765
|
|
NM_017780.4(CHD7):c.613C>T (p.Gln205Ter)
|
rs1809058275
|
|
NM_017780.4(CHD7):c.6143_6144del (p.Glu2048fs)
|
rs1554604059
|
|
NM_017780.4(CHD7):c.6292C>T (p.Arg2098Ter)
|
rs875989879
|
|
NM_017780.4(CHD7):c.6426del (p.Ser2142_Leu2143insTer)
|
|
|
NM_017780.4(CHD7):c.6746del (p.Asp2249fs)
|
rs1805570234
|
|
NM_017780.4(CHD7):c.7281dup (p.Arg2428fs)
|
rs1554605030
|
|
NM_017780.4(CHD7):c.7764del (p.Asn2588fs)
|
rs1805946988
|
|
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter)
|
rs587783458
|
|
NM_017780.4(CHD7):c.7971+1G>A
|
rs1554606274
|
|
NM_017780.4(CHD7):c.8962dup (p.Asp2988fs)
|
rs771806027
|
|
NM_017780.4(CHD7):c.917_921del (p.Asn306fs)
|
rs1563560966
|
|
NM_017780.4(CHD7):c.934C>T (p.Arg312Ter)
|
rs886041166
|
|
NM_017791.3(FLVCR2):c.721_731del (p.Glu241fs)
|
|
|
NM_017868.4(TTC12):c.283C>T (p.Arg95Ter)
|
|
|
NM_017882.3(CLN6):c.214G>T (p.Glu72Ter)
|
rs104894483
|
|
NM_017890.4(VPS13B):c.9850dup (p.Ile3284Asnfs)
|
rs774357106
|
|
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs)
|
rs1427643616
|
|
NM_017909.4(RMND1):c.1349G>C (p.Ter450Ser)
|
rs115079861
|
|
NM_017934.7(PHIP):c.1317dup (p.Ile440fs)
|
rs1770802469
|
|
NM_017934.7(PHIP):c.2363del (p.Lys788fs)
|
|
|
NM_017934.7(PHIP):c.5054_5063delinsGGATT (p.Glu1685fs)
|
|
|
NM_017934.7(PHIP):c.923+1G>A
|
rs1771354257
|
|
NM_017951.5(SMPD4):c.-67_-66del
|
|
|
NM_017988.6(SCYL2):c.298C>T (p.Arg100Ter)
|
|
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
|
NM_018122.5(DARS2):c.127+1G>A
|
rs869312918
|
|
NM_018122.5(DARS2):c.796C>T (p.Arg266Ter)
|
|
|
NM_018129.4(PNPO):c.399G>A (p.Trp133Ter)
|
rs766311956
|
|
NM_018131.5(CEP55):c.1191+2T>C
|
rs1002854345
|
|
NM_018136.5(ASPM):c.1386C>G (p.Tyr462Ter)
|
rs1553227742
|
|
NM_018136.5(ASPM):c.1896_1897del (p.Lys633fs)
|
rs1170413397
|
|
NM_018136.5(ASPM):c.3853_3854del (p.Asp1285fs)
|
rs587783239
|
|
NM_018136.5(ASPM):c.4117del (p.Tyr1373fs)
|
|
|
NM_018136.5(ASPM):c.4583del (p.Lys1528fs)
|
rs199422164
|
|
NM_018136.5(ASPM):c.6152del (p.Gln2051fs)
|
rs1189399471
|
|
NM_018136.5(ASPM):c.6841_6844del (p.Arg2281fs)
|
|
|
NM_018136.5(ASPM):c.7491_7495del (p.Thr2499fs)
|
rs199422172
|
|
NM_018136.5(ASPM):c.7581_7585del (p.Tyr2527_Arg2529delinsTer)
|
rs765530357
|
|
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs)
|
rs199422173
|
|
NM_018136.5(ASPM):c.8133_8136del (p.Lys2712fs)
|
rs587783278
|
|
NM_018136.5(ASPM):c.8988-1G>C
|
rs1553326645
|
|
NM_018136.5(ASPM):c.9961C>T (p.Gln3321Ter)
|
rs1482100822
|
|
NM_018238.4(AGK):c.424-3C>G
|
rs766413410
|
|
NM_018255.4(ELP2):c.1741_1742del (p.Leu581fs)
|
|
|
NM_018297.4(NGLY1):c.1107G>A (p.Trp369Ter)
|
|
|
NM_018297.4(NGLY1):c.1242del (p.Asn415fs)
|
rs1575616394
|
|
NM_018297.4(NGLY1):c.1756C>T (p.Arg586Ter)
|
|
|
NM_018297.4(NGLY1):c.39del (p.Ser14fs)
|
rs1553666033
|
|
NM_018451.5(CENPJ):c.2328dup (p.Val777fs)
|
|
|
NM_018486.3(HDAC8):c.416G>C (p.Gly139Ala)
|
rs878853048
|
|
NM_018486.3(HDAC8):c.496C>T (p.Arg166Ter)
|
rs886041936
|
|
NM_018486.3(HDAC8):c.755_761del (p.Tyr252fs)
|
rs1555993215
|
|
NM_018489.3(ASH1L):c.1651G>T (p.Gly551Ter)
|
|
|
NM_018489.3(ASH1L):c.1984_1985del (p.Ile662fs)
|
|
|
NM_018489.3(ASH1L):c.2021_2025del (p.Ser674fs)
|
rs1665902242
|
|
NM_018489.3(ASH1L):c.6366C>A (p.Cys2122Ter)
|
|
|
NM_018489.3(ASH1L):c.7603C>T (p.Arg2535Ter)
|
|
|
NM_018669.6(WDR4):c.779_786del (p.Leu260fs)
|
|
|
NM_018684.4(ZC4H2):c.148C>T (p.Gln50Ter)
|
rs797044863
|
|
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter)
|
rs1131691616
|
|
NM_018684.4(ZC4H2):c.243_246del (p.Lys81fs)
|
rs1929136990
|
|
NM_018684.4(ZC4H2):c.362del (p.Pro121fs)
|
|
|
NM_018684.4(ZC4H2):c.450dup (p.Ile151fs)
|
rs1555933851
|
|
NM_018684.4(ZC4H2):c.637C>T (p.Arg213Trp)
|
rs879255236
|
|
NM_018706.7(DHTKD1):c.2583G>A (p.Trp861Ter)
|
|
|
NM_018718.3(CEP41):c.33+1G>A
|
|
|
NM_018723.4(RBFOX1):c.353G>A (p.Arg118Gln)
|
rs1057521725
|
|
NM_018941.4(CLN8):c.703del (p.Val236fs)
|
rs761621368
|
|
NM_019023.5(PRMT7):c.322G>T (p.Glu108Ter)
|
rs1014959895
|
|
NM_019023.5(PRMT7):c.471del (p.Ser158fs)
|
rs770567326
|
|
NM_019026.6(TMCO1):c.139_140del (p.Gln46_Ser47insTer)
|
rs752176040
|
|
NM_019026.6(TMCO1):c.391C>T (p.Arg131Ter)
|
rs1247427997
|
|
NM_019042.5(PUS7):c.393_397del (p.Glu132fs)
|
|
|
NM_019066.5(MAGEL2):c.1601del (p.Pro534fs)
|
rs1890397401
|
|
NM_019066.5(MAGEL2):c.1906C>T (p.Gln636Ter)
|
rs765424967
|
|
NM_019066.5(MAGEL2):c.1912C>T (p.Gln638Ter)
|
rs797044883
|
|
NM_019066.5(MAGEL2):c.1923dup (p.Val643fs)
|
|
|
NM_019066.5(MAGEL2):c.1944del (p.Gln650fs)
|
rs1890386731
|
|
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs)
|
rs770374710
|
|
NM_019066.5(MAGEL2):c.3122del (p.Val1041fs)
|
rs1555374117
|
|
NM_019098.5(CNGB3):c.339-4415_673del
|
|
|
NM_019108.4(SMG9):c.787G>T (p.Glu263Ter)
|
|
|
NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)
|
rs886039763
|
|
NM_020066.5(FMN2):c.4414G>T (p.Glu1472Ter)
|
|
|
NM_020191.4(MRPS22):c.373C>T (p.Arg125Ter)
|
|
|
NM_020312.4(COQ9):c.521+2T>C
|
|
|
NM_020320.5(RARS2):c.1163del (p.Gly388fs)
|
|
|
NM_020320.5(RARS2):c.500_503del (p.Arg167fs)
|
rs1782401252
|
|
NM_020338.4(ZMIZ1):c.1372C>T (p.Gln458Ter)
|
rs1853909290
|
|
NM_020338.4(ZMIZ1):c.2194G>T (p.Glu732Ter)
|
|
|
NM_020435.4(GJC2):c.80G>A (p.Trp27Ter)
|
rs1553262429
|
|
NM_020442.6(VARS2):c.1219C>T (p.Arg407Ter)
|
|
|
NM_020461.4(TUBGCP6):c.2747del (p.Pro916fs)
|
|
|
NM_020533.3(MCOLN1):c.1047dup (p.Phe350fs)
|
rs1057516904
|
|
NM_020533.3(MCOLN1):c.641dup (p.Ser214fs)
|
|
|
NM_020631.6(PLEKHG5):c.2269G>T (p.Glu757Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2377dup (p.Ala793fs)
|
rs753593088
|
|
NM_020631.6(PLEKHG5):c.2788C>T (p.Arg930Ter)
|
|
|
NM_020680.4(SCYL1):c.1039C>T (p.Gln347Ter)
|
rs1855366408
|
|
NM_020680.4(SCYL1):c.1346_1347del (p.Thr449fs)
|
rs773812714
|
|
NM_020680.4(SCYL1):c.2066_2067del (p.Pro689fs)
|
rs759830598
|
|
NM_020680.4(SCYL1):c.560del (p.Pro187fs)
|
|
|
NM_020699.4(GATAD2B):c.1408C>T (p.Gln470Ter)
|
rs587776931
|
|
NM_020699.4(GATAD2B):c.1444C>T (p.Gln482Ter)
|
rs946006593
|
|
NM_020699.4(GATAD2B):c.229G>T (p.Glu77Ter)
|
|
|
NM_020699.4(GATAD2B):c.271_274dup (p.Ala92fs)
|
rs1674944862
|
|
NM_020699.4(GATAD2B):c.453dup (p.Glu152fs)
|
|
|
NM_020699.4(GATAD2B):c.520C>T (p.Arg174Ter)
|
rs1674577139
|
|
NM_020699.4(GATAD2B):c.818dup (p.Gln274fs)
|
|
|
NM_020706.2(SCAF4):c.1411C>T (p.Arg471Ter)
|
|
|
NM_020706.2(SCAF4):c.1648dup (p.Met550fs)
|
|
|
NM_020706.2(SCAF4):c.852del (p.Val285fs)
|
|
|
NM_020719.3(PRR12):c.2345_2348del (p.Leu782fs)
|
|
|
NM_020719.3(PRR12):c.2946dup (p.Gly983fs)
|
|
|
NM_020719.3(PRR12):c.3241del (p.Leu1081fs)
|
rs2080782573
|
|
NM_020751.3(COG6):c.651_654del (p.Leu217fs)
|
|
|
NM_020791.4(TAOK1):c.1390dup (p.Met464fs)
|
|
|
NM_020791.4(TAOK1):c.2083C>T (p.Arg695Ter)
|
rs2031936282
|
|
NM_020791.4(TAOK1):c.2104C>T (p.Arg702Ter)
|
rs1481295744
|
|
NM_020812.4(DOCK6):c.4480G>T (p.Glu1494Ter)
|
rs568049240
|
|
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
|
|
|
NM_020822.3(KCNT1):c.2849G>A (p.Arg950Gln)
|
|
|
NM_020843.4(SCAPER):c.2436del (p.Arg814fs)
|
|
|
NM_020919.4(ALS2):c.4897C>T (p.Gln1633Ter)
|
rs797044934
|
|
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp)
|
rs587777695
|
|
NM_020964.3(EPG5):c.3949_3952del (p.Leu1317fs)
|
|
|
NM_020964.3(EPG5):c.5314A>T (p.Lys1772Ter)
|
|
|
NM_020971.3(SPTBN4):c.1813C>T (p.Gln605Ter)
|
rs2080330778
|
|
NM_020971.3(SPTBN4):c.2052_2071dup (p.Leu691fs)
|
rs1555815437
|
|
NM_020971.3(SPTBN4):c.3829del (p.Gln1277fs)
|
rs2080555011
|
|
NM_020975.6(RET):c.1425dup (p.Pro476fs)
|
rs1554818540
|
|
NM_020987.5(ANK3):c.855dup (p.Leu286fs)
|
|
|
NM_020988.3(GNAO1):c.133G>C (p.Gly45Arg)
|
rs869312939
|
|
NM_020988.3(GNAO1):c.143C>T (p.Thr48Ile)
|
rs1555499800
|
|
NM_020988.3(GNAO1):c.625C>T (p.Arg209Cys)
|
rs886039494
|
|
NM_020988.3(GNAO1):c.626G>A (p.Arg209His)
|
rs797044878
|
|
NM_020988.3(GNAO1):c.723+1G>A
|
rs1596872804
|
|
NM_020988.3(GNAO1):c.724-8G>A
|
rs1085307876
|
|
NM_020988.3(GNAO1):c.736G>A (p.Glu246Lys)
|
rs797044951
|
|
NM_021005.4(NR2F2):c.1097G>C (p.Arg366Pro)
|
rs1555447465
|
|
NM_021005.4(NR2F2):c.64C>T (p.Gln22Ter)
|
rs1555446980
|
|
NM_021005.4(NR2F2):c.775C>T (p.Gln259Ter)
|
|
|
NM_021008.4(DEAF1):c.576C>A (p.Tyr192Ter)
|
rs1554944527
|
|
NM_021074.5(NDUFV2):c.491_492insGT (p.Pro165fs)
|
|
|
NM_021083.4(XK):c.1015A>T (p.Lys339Ter)
|
rs1556450491
|
|
NM_021120.4(DLG3):c.351T>A (p.Tyr117Ter)
|
rs1241142887
|
|
NM_021120.4(DLG3):c.546_549del (p.Val183fs)
|
|
|
NM_021120.4(DLG3):c.631C>T (p.Arg211Ter)
|
rs1213060424
|
|
NM_021222.3(PRUNE1):c.3_7dup (p.Asp3fs)
|
rs1553251507
|
|
NM_021222.3(PRUNE1):c.661del (p.Ala221fs)
|
rs1553253812
|
|
NM_021224.6(ZNF462):c.3305dup (p.Gln1103fs)
|
|
|
NM_021224.6(ZNF462):c.6214_6215del (p.His2072fs)
|
rs1830599035
|
|
NM_021619.3(PRDM12):c.514G>T (p.Glu172Ter)
|
|
|
NM_021620.4(PRDM13):c.639_655dup (p.Gln219fs)
|
|
|
NM_021625.5(TRPV4):c.1781G>A (p.Arg594His)
|
rs77975504
|
|
NM_021625.5(TRPV4):c.2204T>G (p.Leu735Arg)
|
rs1555205335
|
|
NM_021625.5(TRPV4):c.2396C>T (p.Pro799Leu)
|
rs121912637
|
|
NM_021625.5(TRPV4):c.806G>A (p.Arg269His)
|
rs267607144
|
|
NM_021625.5(TRPV4):c.946C>T (p.Arg316Cys)
|
rs267607145
|
|
NM_021728.4(OTX2):c.226C>T (p.Arg76Ter)
|
rs773157352
|
|
NM_021926.4(ALX4):c.793C>T (p.Arg265Ter)
|
rs267606653
|
|
NM_021939.4(FKBP10):c.1343_1344del (p.Val448fs)
|
rs797044852
|
|
NM_021942.6(TRAPPC11):c.1190G>A (p.Trp397Ter)
|
|
|
NM_021942.6(TRAPPC11):c.2567_2568del (p.Tyr856fs)
|
rs1579207748
|
|
NM_021956.5(GRIK2):c.1969G>A (p.Ala657Thr)
|
rs1790057505
|
|
NM_022041.4(GAN):c.1112_1124delinsGA (p.Glu371fs)
|
|
|
NM_022041.4(GAN):c.432C>G (p.Tyr144Ter)
|
rs1555511101
|
|
NM_022072.5(NSUN3):c.150G>A (p.Trp50Ter)
|
|
|
NM_022089.4(ATP13A2):c.212G>A (p.Trp71Ter)
|
rs373607247
|
|
NM_022089.4(ATP13A2):c.2487del (p.Phe830fs)
|
|
|
NM_022089.4(ATP13A2):c.604del (p.His202fs)
|
|
|
NM_022095.4(ZNF335):c.3332G>T (p.Arg1111Leu)
|
rs397514642
|
|
NM_022095.4(ZNF335):c.757dup (p.Arg253fs)
|
rs1555851216
|
|
NM_022114.4(PRDM16):c.2595dup (p.Ile866fs)
|
rs1643715509
|
|
NM_022124.6(CDH23):c.1428dup (p.Thr477fs)
|
rs750803248
|
|
NM_022124.6(CDH23):c.3241C>T (p.Arg1081Ter)
|
rs866435331
|
|
NM_022124.6(CDH23):c.4759_4766del (p.Thr1587fs)
|
rs759981467
|
|
NM_022167.4(XYLT2):c.692dup (p.Val232fs)
|
rs797044806
|
|
NM_022370.4(ROBO3):c.571dup (p.Arg191fs)
|
rs756837590
|
|
NM_022455.5(NSD1):c.1084dup (p.Arg362fs)
|
|
|
NM_022455.5(NSD1):c.1702_1703insAG (p.Phe568Ter)
|
rs1554189042
|
|
NM_022455.5(NSD1):c.2209dup (p.Thr737fs)
|
rs1763260541
|
|
NM_022455.5(NSD1):c.2555_2556del (p.Ile852fs)
|
rs1763290288
|
|
NM_022455.5(NSD1):c.2575_2576del (p.His859fs)
|
|
|
NM_022455.5(NSD1):c.2672_2676del (p.Ser891fs)
|
rs1131691754
|
|
NM_022455.5(NSD1):c.2954_2955del (p.Ser985fs)
|
rs587784092
|
|
NM_022455.5(NSD1):c.3451_3452del (p.Val1151fs)
|
rs1554190262
|
|
NM_022455.5(NSD1):c.3788del (p.Pro1263fs)
|
rs1763397665
|
|
NM_022455.5(NSD1):c.3891del (p.Lys1297fs)
|
rs1765403726
|
|
NM_022455.5(NSD1):c.4192+2T>G
|
rs587784111
|
|
NM_022455.5(NSD1):c.4417C>T (p.Arg1473Ter)
|
rs587784117
|
|
NM_022455.5(NSD1):c.4651A>T (p.Lys1551Ter)
|
|
|
NM_022455.5(NSD1):c.4949_4950del (p.Asn1650fs)
|
rs1554199501
|
|
NM_022455.5(NSD1):c.5127G>A (p.Trp1709Ter)
|
rs2149918110
|
|
NM_022455.5(NSD1):c.5257A>T (p.Lys1753Ter)
|
|
|
NM_022455.5(NSD1):c.5622+1G>A
|
|
|
NM_022455.5(NSD1):c.5990A>G (p.Tyr1997Cys)
|
rs797045825
|
|
NM_022455.5(NSD1):c.6349C>T (p.Arg2117Ter)
|
rs587784190
|
|
NM_022489.4(INF2):c.383T>C (p.Leu128Pro)
|
rs387907037
|
|
NM_022489.4(INF2):c.395T>C (p.Leu132Pro)
|
rs387907038
|
|
NM_022552.5(DNMT3A):c.1238dup (p.Phe414fs)
|
rs755744291
|
|
NM_022552.5(DNMT3A):c.1405G>T (p.Glu469Ter)
|
|
|
NM_022552.5(DNMT3A):c.2037del (p.Lys680fs)
|
rs1365479526
|
|
NM_022552.5(DNMT3A):c.2312G>A (p.Arg771Gln)
|
rs757823678
|
|
NM_022552.5(DNMT3A):c.2580G>A (p.Trp860Ter)
|
|
|
NM_022552.5(DNMT3A):c.2644C>T (p.Arg882Cys)
|
rs377577594
|
|
NM_022552.5(DNMT3A):c.2645G>A (p.Arg882His)
|
rs147001633
|
|
NM_022552.5(DNMT3A):c.892G>T (p.Gly298Trp)
|
rs797044904
|
|
NM_022786.3(ARV1):c.148del (p.His50fs)
|
|
|
NM_022786.3(ARV1):c.674-2A>T
|
rs1192627743
|
|
NM_022893.4(BCL11A):c.385+2T>C
|
rs1553352926
|
|
NM_022893.4(BCL11A):c.56-1G>C
|
rs1553353092
|
|
NM_023067.4(FOXL2):c.576dup (p.Lys193fs)
|
rs1057516161
|
|
NM_023083.4(CAPN10):c.837_858dup (p.Ala287fs)
|
rs1559425580
|
|
NM_024079.5(ALG8):c.309dup (p.Leu104fs)
|
|
|
NM_024105.4(ALG12):c.1001del (p.Asn334fs)
|
rs759244819
|
|
NM_024298.5(MBOAT7):c.676_679dup (p.Leu227fs)
|
|
|
NM_024298.5(MBOAT7):c.758_778del (p.Glu253_Ala259del)
|
rs750035706
|
|
NM_024312.5(GNPTAB):c.1959_1960del (p.Pro655fs)
|
rs1429181351
|
|
NM_024312.5(GNPTAB):c.2053_2057del (p.Ser685fs)
|
rs34901902
|
|
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs)
|
rs34002892
|
|
NM_024339.5(THOC6):c.838del (p.Val280fs)
|
rs2072826485
|
|
NM_024417.5(FDXR):c.778_779dup (p.Leu260fs)
|
|
|
NM_024496.4(IRF2BPL):c.1040dup (p.Gln348fs)
|
|
|
NM_024496.4(IRF2BPL):c.2116_2117delinsT (p.Pro706fs)
|
|
|
NM_024496.4(IRF2BPL):c.562C>T (p.Arg188Ter)
|
rs1345176461
|
|
NM_024529.5(CDC73):c.2T>C (p.Met1Thr)
|
rs1553277483
|
|
NM_024537.4(CARS2):c.1068dup (p.Asp357Ter)
|
|
|
NM_024537.4(CARS2):c.1360dup (p.Ile454fs)
|
rs1555342802
|
|
NM_024577.4(SH3TC2):c.2211C>A (p.Cys737Ter)
|
rs1318388071
|
|
NM_024577.4(SH3TC2):c.3115del (p.Glu1039fs)
|
|
|
NM_024580.6(EFL1):c.2005C>T (p.Arg669Ter)
|
rs2141235535
|
|
NM_024656.4(COLGALT1):c.25_37del (p.Arg9fs)
|
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_024685.4(BBS10):c.39_46del (p.Ala14fs)
|
rs1555202806
|
|
NM_024753.5(TTC21B):c.1656_1659del (p.Leu551_Cys552insTer)
|
rs2105329247
|
|
NM_024757.5(EHMT1):c.1311G>A (p.Trp437Ter)
|
rs1949206105
|
|
NM_024757.5(EHMT1):c.1468C>T (p.Arg490Ter)
|
rs1588553447
|
|
NM_024757.5(EHMT1):c.2188dup (p.Glu730fs)
|
rs1554879633
|
|
NM_024757.5(EHMT1):c.2193-1G>C
|
rs137852720
|
|
NM_024757.5(EHMT1):c.2483_2488delinsGA (p.Ala828fs)
|
|
|
NM_024757.5(EHMT1):c.3046C>T (p.Arg1016Ter)
|
rs1429360126
|
|
NM_024757.5(EHMT1):c.3321_3324del (p.Cys1109fs)
|
rs1954889657
|
|
NM_024757.5(EHMT1):c.3321_3326delinsTT (p.Ala1108fs)
|
rs1554897852
|
|
NM_024757.5(EHMT1):c.3346C>T (p.Arg1116Ter)
|
rs749848324
|
|
NM_024757.5(EHMT1):c.749_750delinsG (p.Leu250fs)
|
|
|
NM_024818.6(UBA5):c.129_130insGG (p.Ser44fs)
|
rs766932828
|
|
NM_024989.4(PGAP1):c.2199del (p.Phe734_Leu735insTer)
|
|
|
NM_024989.4(PGAP1):c.668del (p.Asn223fs)
|
rs1702538795
|
|
NM_025009.5(CEP135):c.1733T>G (p.Leu578Ter)
|
|
|
NM_025074.7(FRAS1):c.8098+2T>A
|
rs786205570
|
|
NM_025099.6(CTC1):c.724_727del (p.Lys242fs)
|
rs199473674
|
|
NM_025114.4(CEP290):c.164_167del (p.Thr55fs)
|
rs758550675
|
|
NM_025114.4(CEP290):c.373G>T (p.Glu125Ter)
|
rs2040371663
|
|
NM_025114.4(CEP290):c.5434_5435del (p.Glu1812fs)
|
rs757609119
|
|
NM_025114.4(CEP290):c.7328_7332dup (p.Val2445fs)
|
rs747138345
|
|
NM_025137.3(SPG11):c.5456_5457del (p.Glu1819Alafs)
|
rs312262764
|
|
NM_025137.4(SPG11):c.1151G>A (p.Trp384Ter)
|
|
|
NM_025137.4(SPG11):c.1203del (p.Asp402fs)
|
rs312262722
|
|
NM_025137.4(SPG11):c.1819_1822delinsAT (p.Ser607fs)
|
|
|
NM_025137.4(SPG11):c.190C>T (p.Gln64Ter)
|
|
|
NM_025137.4(SPG11):c.276_285del (p.Arg93fs)
|
rs747220413
|
|
NM_025137.4(SPG11):c.3213_3214insCCCT (p.Val1072fs)
|
rs767798272
|
|
NM_025137.4(SPG11):c.4291del (p.Leu1431fs)
|
|
|
NM_025137.4(SPG11):c.5255del (p.Phe1752fs)
|
rs312262763
|
|
NM_025137.4(SPG11):c.5769del (p.Ser1923fs)
|
rs312262770
|
|
NM_025137.4(SPG11):c.5844del (p.Pro1949_Leu1950insTer)
|
rs1323156960
|
|
NM_025137.4(SPG11):c.5972del (p.Cys1991fs)
|
rs2082503070
|
|
NM_025137.4(SPG11):c.6635dup (p.Gly2213fs)
|
|
|
NM_025137.4(SPG11):c.6739_6742del (p.Glu2247fs)
|
rs312262782
|
|
NM_025137.4(SPG11):c.6832_6833del (p.Ser2278fs)
|
rs312262784
|
|
NM_025137.4(SPG11):c.7063_7073dup (p.Lys2358_Gly2359insTer)
|
rs2082272406
|
|
NM_025137.4(SPG11):c.817_820dup (p.Val274fs)
|
rs2084963365
|
|
NM_025243.4(SLC19A3):c.1264A>G (p.Thr422Ala)
|
rs121917884
|
|
NM_025265.4(TSEN2):c.215C>A (p.Ser72Ter)
|
|
|
NM_030632.3(ASXL3):c.1271del (p.Pro424fs)
|
|
|
NM_030632.3(ASXL3):c.1316C>G (p.Ser439Ter)
|
rs2067592710
|
|
NM_030632.3(ASXL3):c.1354del (p.Glu452fs)
|
rs1555742087
|
|
NM_030632.3(ASXL3):c.1389_1390del (p.Cys463_Glu464delinsTer)
|
rs2067594520
|
|
NM_030632.3(ASXL3):c.1479_1480insTGCT (p.Pro494fs)
|
rs2067597366
|
|
NM_030632.3(ASXL3):c.1612G>T (p.Glu538Ter)
|
rs2067601254
|
|
NM_030632.3(ASXL3):c.1802dup (p.Leu602fs)
|
rs2067607133
|
|
NM_030632.3(ASXL3):c.1978_1981del (p.Asp660fs)
|
rs1555742500
|
|
NM_030632.3(ASXL3):c.3039+1G>A
|
rs1555743003
|
|
NM_030632.3(ASXL3):c.3315_3318del (p.Thr1106fs)
|
rs2067694467
|
|
NM_030632.3(ASXL3):c.3332_3333del (p.Phe1111fs)
|
rs2067695073
|
|
NM_030665.4(RAI1):c.1490del (p.Leu497fs)
|
rs2032151441
|
|
NM_030665.4(RAI1):c.153T>A (p.Tyr51Ter)
|
rs961308480
|
|
NM_030665.4(RAI1):c.1670_1671del (p.Ser557fs)
|
rs1555565243
|
|
NM_030665.4(RAI1):c.2234_2237del (p.Ala745fs)
|
rs1555565426
|
|
NM_030665.4(RAI1):c.2763_2764del (p.Glu923fs)
|
|
|
NM_030665.4(RAI1):c.2966_2969del (p.Lys989fs)
|
rs1135401792
|
|
NM_030665.4(RAI1):c.3920_3924delinsATG (p.Arg1307fs)
|
|
|
NM_030665.4(RAI1):c.3937dup (p.Ala1313fs)
|
|
|
NM_030665.4(RAI1):c.4432del (p.Arg1478fs)
|
rs2032300575
|
|
NM_030912.3(TRIM8):c.1375C>T (p.Gln459Ter)
|
rs866294686
|
|
NM_030962.4(SBF2):c.229C>T (p.Arg77Ter)
|
|
|
NM_030962.4(SBF2):c.3706C>T (p.Gln1236Ter)
|
|
|
NM_030973.4(MED25):c.781_791del (p.Pro261fs)
|
|
|
NM_030973.4(MED25):c.924del (p.Leu309fs)
|
rs2074049374
|
|
NM_031229.4(RBCK1):c.748dup (p.Tyr250fs)
|
|
|
NM_031263.4(HNRNPK):c.859C>T (p.Arg287Ter)
|
rs1554698878
|
|
NM_031263.4(HNRNPK):c.875del (p.Pro292fs)
|
rs1956866167
|
|
NM_031407.7(HUWE1):c.329G>A (p.Arg110Gln)
|
rs1557036768
|
|
NM_031844.3(HNRNPU):c.1085del (p.Gly362fs)
|
rs1680764227
|
|
NM_031844.3(HNRNPU):c.1086del (p.Trp363fs)
|
rs1680764134
|
|
NM_031844.3(HNRNPU):c.2085dup (p.Gly696fs)
|
rs1553282235
|
|
NM_031844.3(HNRNPU):c.2217_2218del (p.Gly740fs)
|
|
|
NM_031844.3(HNRNPU):c.310dup (p.Met104fs)
|
|
|
NM_031885.5(BBS2):c.661del (p.Leu221fs)
|
rs770258677
|
|
NM_031921.6(ATAD3B):c.511C>T (p.Arg171Ter)
|
|
|
NM_032193.4(RNASEH2C):c.178dup (p.Glu60fs)
|
rs772940104
|
|
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln)
|
rs1331463984
|
|
NM_032436.4(CHAMP1):c.1192C>T (p.Arg398Ter)
|
rs797044962
|
|
NM_032436.4(CHAMP1):c.1489C>T (p.Arg497Ter)
|
rs782397980
|
|
NM_032436.4(CHAMP1):c.1559_1560del (p.Ser520fs)
|
rs2087233948
|
|
NM_032436.4(CHAMP1):c.1952C>G (p.Ser651Ter)
|
rs1555379911
|
|
NM_032588.4(TRIM63):c.481_482del (p.Ser161fs)
|
rs540072010
|
|
NM_032588.4(TRIM63):c.739C>T (p.Gln247Ter)
|
rs148395034
|
|
NM_032590.5(KDM2B):c.1847G>T (p.Cys616Phe)
|
|
|
NM_032620.4(GTPBP3):c.12del (p.Leu5fs)
|
|
|
NM_032634.4(PIGO):c.1810dup (p.Arg604fs)
|
rs774508288
|
|
NM_032638.5(GATA2):c.1192C>T (p.Arg398Trp)
|
rs387906629
|
|
NM_032756.4(HPDL):c.163_164del (p.Leu55fs)
|
|
|
NM_032756.4(HPDL):c.698_699insTGGGCCAGCATTGTCCCCACTCTTGTTCTGGCTGAGTC (p.Leu234fs)
|
|
|
NM_032756.4(HPDL):c.759dup (p.Pro254fs)
|
|
|
NM_032756.4(HPDL):c.789del (p.Pro264fs)
|
|
|
NM_032793.5(MFSD2A):c.456C>A (p.Cys152Ter)
|
|
|
NM_032861.4(SERAC1):c.966del (p.Ile322fs)
|
|
|
NM_032888.4(COL27A1):c.371del (p.Leu124fs)
|
rs1554787366
|
|
NM_032888.4(COL27A1):c.5185C>T (p.Gln1729Ter)
|
rs1554829390
|
|
NM_032982.4(CASP2):c.1156del (p.Tyr386fs)
|
|
|
NM_032982.4(CASP2):c.1174C>T (p.Gln392Ter)
|
|
|
NM_032982.4(CASP2):c.130C>T (p.Arg44Ter)
|
|
|
NM_032982.4(CASP2):c.876+1G>T
|
|
|
NM_033109.5(PNPT1):c.1390C>T (p.Arg464Ter)
|
rs2627765
|
|
NM_033109.5(PNPT1):c.887_888del (p.Tyr296fs)
|
|
|
NM_033116.6(NEK9):c.2239C>T (p.Gln747Ter)
|
|
|
NM_033380.3(COL4A5):c.1832del (p.Pro611fs)
|
|
|
NM_033380.3(COL4A5):c.2780del (p.Leu927fs)
|
|
|
NM_033380.3(COL4A5):c.2958_2975del (p.Asp989_Gly994del)
|
rs1556421106
|
|
NM_033380.3(COL4A5):c.4220del (p.Pro1407fs)
|
|
|
NM_033409.4(SLC52A3):c.639C>G (p.Tyr213Ter)
|
rs778363575
|
|
NM_033409.4(SLC52A3):c.753del (p.Val252fs)
|
rs1568721373
|
|
NM_033409.4(SLC52A3):c.775C>T (p.Gln259Ter)
|
|
|
NM_033419.5(PGAP3):c.205A>T (p.Lys69Ter)
|
|
|
NM_033517.1(SHANK3):c.3379delinsCC (p.Ser1127fs)
|
rs1555910140
|
|
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs)
|
rs762292772
|
|
NM_052867.4(NALCN):c.3542G>A (p.Arg1181Gln)
|
rs786201003
|
|
NM_052867.4(NALCN):c.4197+1G>A
|
rs869312952
|
|
NM_052874.5(STX1B):c.733C>T (p.Arg245Ter)
|
rs780843272
|
|
NM_052988.5(CDK10):c.178del (p.Gln60fs)
|
rs2060399733
|
|
NM_053274.3(GLMN):c.157_161del (p.Glu52_Lys53insTer)
|
rs762515373
|
|
NM_057175.5(NAA15):c.1447C>T (p.Gln483Ter)
|
|
|
NM_057175.5(NAA15):c.168_169del (p.Asn57fs)
|
rs1747217573
|
|
NM_057175.5(NAA15):c.2077C>T (p.Gln693Ter)
|
|
|
NM_057175.5(NAA15):c.2298_2299dup (p.Ser767fs)
|
|
|
NM_057175.5(NAA15):c.326G>A (p.Trp109Ter)
|
|
|
NM_078480.3(PUF60):c.376del (p.Ala126fs)
|
rs1554643598
|
|
NM_078480.3(PUF60):c.449_457del (p.Ala150_Phe152del)
|
rs1131692232
|
|
NM_078480.3(PUF60):c.496del (p.Thr166fs)
|
rs1554643463
|
|
NM_078480.3(PUF60):c.510+1G>T
|
rs1816618311
|
|
NM_078480.3(PUF60):c.608dup (p.Arg204fs)
|
rs1816568888
|
|
NM_078629.4(MSL3):c.1125_1141dup (p.Met381fs)
|
rs2053175099
|
|
NM_078629.4(MSL3):c.1208del (p.Pro403fs)
|
rs1555907215
|
|
NM_078629.4(MSL3):c.1360C>T (p.Gln454Ter)
|
rs2053238794
|
|
NM_078629.4(MSL3):c.709_715dup (p.Asn239fs)
|
rs2053146273
|
|
NM_080632.3(UPF3B):c.16G>T (p.Glu6Ter)
|
|
|
NM_080916.3(DGUOK):c.487del (p.Asp163fs)
|
|
|
NM_130466.4(UBE3B):c.1956+1G>A
|
rs1304422857
|
|
NM_130837.3(OPA1):c.1499G>C (p.Arg500Pro)
|
rs80356529
|
|
NM_130837.3(OPA1):c.2661+1G>A
|
rs794727392
|
|
NM_130837.3(OPA1):c.800_801del (p.Lys267fs)
|
rs794727804
|
|
NM_130839.5(UBE3A):c.1032_1038del (p.Thr345fs)
|
rs587781192
|
|
NM_130839.5(UBE3A):c.1261C>T (p.Arg421Ter)
|
rs587781196
|
|
NM_130839.5(UBE3A):c.1314_1402del (p.Lys438fs)
|
rs1555400067
|
|
NM_130839.5(UBE3A):c.1318_1321delinsATAAAC (p.Leu440fs)
|
|
|
NM_130839.5(UBE3A):c.1782del (p.Lys594fs)
|
rs1555391286
|
|
NM_130839.5(UBE3A):c.1865A>G (p.Asn622Ser)
|
rs587784521
|
|
NM_130839.5(UBE3A):c.1871_1872del (p.Cys624fs)
|
rs864309508
|
|
NM_130839.5(UBE3A):c.237_238del (p.Leu79_Cys80insTer)
|
|
|
NM_130839.5(UBE3A):c.2403CTT[1] (p.Phe802del)
|
rs1555380820
|
|
NM_130839.5(UBE3A):c.2461_2470del (p.Leu820_Lys821insTer)
|
rs1566825063
|
|
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
|
|
|
NM_130849.4(SLC39A4):c.1023_1475-7del
|
|
|
NM_130849.4(SLC39A4):c.1465_1474+4del
|
rs782563835
|
|
NM_133259.4(LRPPRC):c.1474C>T (p.Arg492Ter)
|
|
|
NM_133433.4(NIPBL):c.1435C>T (p.Arg479Ter)
|
rs1554015303
|
|
NM_133433.4(NIPBL):c.3937dup (p.Thr1313fs)
|
|
|
NM_133433.4(NIPBL):c.4560+2_4560+5del
|
|
|
NM_133433.4(NIPBL):c.4760_4763del (p.Ser1586_Leu1587insTer)
|
rs1554024009
|
|
NM_133433.4(NIPBL):c.5329-15A>G
|
rs587783968
|
|
NM_133433.4(NIPBL):c.5440C>T (p.Arg1814Ter)
|
rs80358362
|
|
NM_133433.4(NIPBL):c.6679_6682del (p.Val2227fs)
|
rs2149737037
|
|
NM_133433.4(NIPBL):c.7400_7401insT (p.Phe2468fs)
|
rs1754205019
|
|
NM_133433.4(NIPBL):c.771+1G>A
|
rs587784048
|
|
NM_133433.4(NIPBL):c.7861-1G>A
|
|
|
NM_134261.3(RORA):c.1268_1291delinsAT (p.Phe423fs)
|
|
|
NM_134261.3(RORA):c.184A>T (p.Lys62Ter)
|
|
|
NM_138459.5(NUS1):c.104G>A (p.Trp35Ter)
|
rs1582461039
|
|
NM_138459.5(NUS1):c.443T>A (p.Leu148Ter)
|
rs1773264138
|
|
NM_138576.4(BCL11B):c.1192_1196dup (p.Lys400fs)
|
rs1555376295
|
|
NM_138576.4(BCL11B):c.1944_1965del (p.Gly649fs)
|
rs1886427331
|
|
NM_138576.4(BCL11B):c.238C>T (p.Gln80Ter)
|
rs1555384301
|
|
NM_138576.4(BCL11B):c.721C>T (p.Gln241Ter)
|
rs1314314373
|
|
NM_138615.3(DHX30):c.2353C>T (p.Arg785Cys)
|
rs1085307451
|
|
NM_138773.4(SLC25A46):c.11_12insTG (p.Arg5fs)
|
rs1064795772
|
|
NM_138773.4(SLC25A46):c.273del (p.Gln92fs)
|
rs1022269942
|
|
NM_138927.4(SON):c.237_243del (p.Arg78_Tyr79insTer)
|
rs2085617270
|
|
NM_138927.4(SON):c.2650C>T (p.Gln884Ter)
|
rs2085802432
|
|
NM_138927.4(SON):c.3088_3094del (p.Glu1030fs)
|
|
|
NM_138927.4(SON):c.3287dup (p.Tyr1096Ter)
|
|
|
NM_138927.4(SON):c.3334C>T (p.Arg1112Ter)
|
rs1064796472
|
|
NM_138927.4(SON):c.384del (p.Lys128fs)
|
rs778418096
|
|
NM_138927.4(SON):c.384dup (p.Tyr129fs)
|
rs778418096
|
|
NM_138927.4(SON):c.4774_4777del (p.Thr1592fs)
|
rs1555899177
|
|
NM_138927.4(SON):c.4777_4778del (p.Leu1593fs)
|
rs2085890040
|
|
NM_138927.4(SON):c.5038G>T (p.Glu1680Ter)
|
rs1555899242
|
|
NM_138927.4(SON):c.5058dup (p.Glu1687fs)
|
rs2085901333
|
|
NM_138927.4(SON):c.5495_5497del (p.Ser1832_Glu1833delinsTer)
|
rs1555899379
|
|
NM_138927.4(SON):c.5549_5550del (p.Arg1850fs)
|
rs886039774
|
|
NM_138927.4(SON):c.5717_5720del (p.Arg1906fs)
|
rs1382415023
|
|
NM_138927.4(SON):c.5753_5756del (p.Val1918fs)
|
rs886039773
|
|
NM_138967.4(SCAMP5):c.538G>T (p.Gly180Trp)
|
rs1184981709
|
|
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup)
|
rs387906492
|
|
NM_139058.3(ARX):c.357_391del (p.Gly120fs)
|
|
|
NM_139058.3(ARX):c.426_449dup (p.Gly143_Ala150dup)
|
rs1569395541
|
|
NM_139058.3(ARX):c.922G>T (p.Glu308Ter)
|
rs1556055108
|
|
NM_139125.4(MASP1):c.1039del (p.Ile347fs)
|
|
|
NM_139276.3(STAT3):c.995A>T (p.His332Leu)
|
|
|
NM_139315.3(TAF6):c.958C>T (p.Arg320Ter)
|
rs1457450946
|
|
NM_139318.5(KCNH5):c.980G>A (p.Arg327His)
|
rs587777164
|
|
NM_144508.5(KNL1):c.4693_4696del (p.Asn1565fs)
|
|
|
NM_144563.3(RPIA):c.451C>T (p.Arg151Ter)
|
rs760452079
|
|
NM_144596.4(TTC8):c.1228del (p.Gly409_Ile410insTer)
|
|
|
NM_144991.3(TSPEAR):c.1676_1677del (p.Tyr559fs)
|
rs781890406
|
|
NM_145045.5(ODAD3):c.1060C>T (p.Gln354Ter)
|
rs1555721837
|
|
NM_145207.3(AFG2A):c.2215dup (p.Ser739fs)
|
|
|
NM_145239.3(PRRT2):c.282_283insC (p.Ser95fs)
|
rs1900074141
|
|
NM_145239.3(PRRT2):c.604_607del (p.Ser202fs)
|
rs1064793851
|
|
NM_145239.3(PRRT2):c.649del (p.Arg217fs)
|
rs587778771
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_145239.3(PRRT2):c.710del (p.Gly237fs)
|
|
|
NM_147127.5(EVC2):c.3080_3107del (p.Lys1027fs)
|
rs1391194715
|
|
NM_147127.5(EVC2):c.534dup (p.Glu179Ter)
|
rs1553851462
|
|
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys)
|
rs121964854
|
|
NM_152281.3(GORAB):c.103C>T (p.Arg35Ter)
|
|
|
NM_152296.5(ATP1A3):c.2266C>T (p.Arg756Cys)
|
rs1064797245
|
|
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
|
|
|
NM_152296.5(ATP1A3):c.2425G>C (p.Ala809Pro)
|
|
|
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys)
|
rs387907281
|
|
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)
|
rs587777771
|
|
NM_152296.5(ATP1A3):c.2771T>C (p.Leu924Pro)
|
rs1555859157
|
|
NM_152416.4(NDUFAF6):c.485dup (p.Asn162fs)
|
rs762093523
|
|
NM_152416.4(NDUFAF6):c.561C>G (p.Tyr187Ter)
|
rs1085307635
|
|
NM_152419.3(HGSNAT):c.1455dup (p.Gly486fs)
|
|
|
NM_152424.4(AMER1):c.1072C>T (p.Arg358Ter)
|
rs137852217
|
|
NM_152564.5(VPS13B):c.10425dup (p.Cys3476fs)
|
rs1816414644
|
|
NM_152564.5(VPS13B):c.11655del (p.Val3886fs)
|
rs1212294259
|
|
NM_152564.5(VPS13B):c.1279G>T (p.Glu427Ter)
|
rs1809981172
|
|
NM_152564.5(VPS13B):c.2410C>T (p.Gln804Ter)
|
rs869312923
|
|
NM_152564.5(VPS13B):c.351del (p.Lys117fs)
|
|
|
NM_152564.5(VPS13B):c.467_470del (p.Asn156fs)
|
rs386834090
|
|
NM_152564.5(VPS13B):c.5387_5390dup (p.Arg1799fs)
|
rs1554884733
|
|
NM_152564.5(VPS13B):c.6657+1G>T
|
rs180177366
|
|
NM_152564.5(VPS13B):c.6748C>T (p.Gln2250Ter)
|
rs1014496937
|
|
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs)
|
rs180177329
|
|
NM_152564.5(VPS13B):c.9472C>T (p.Gln3158Ter)
|
rs753770252
|
|
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs)
|
rs886041185
|
|
NM_152594.3(SPRED1):c.493dup (p.Ser165fs)
|
rs1555392032
|
|
NM_152641.4(ARID2):c.1332del (p.Asp444fs)
|
rs1943290352
|
|
NM_152641.4(ARID2):c.167_171del (p.Thr56fs)
|
|
|
NM_152641.4(ARID2):c.2814_2815del (p.Tyr939fs)
|
rs1943537473
|
|
NM_152641.4(ARID2):c.3442_3445del (p.Leu1148fs)
|
rs1555155263
|
|
NM_152743.4(BRAT1):c.453_454insATCTTCTC (p.Leu152fs)
|
rs727505362
|
|
NM_152743.4(BRAT1):c.638dup (p.Val214fs)
|
rs730880324
|
|
NM_152906.7(TANGO2):c.451+2T>A
|
rs2047264129
|
|
NM_152906.7(TANGO2):c.605+1G>C
|
rs372949028
|
|
NM_153006.3(NAGS):c.1097-1G>C
|
rs2143989613
|
|
NM_153033.5(KCTD7):c.631C>T (p.Arg211Ter)
|
rs750811871
|
|
NM_153252.5(BRWD3):c.3886C>T (p.Gln1296Ter)
|
rs2072535700
|
|
NM_153252.5(BRWD3):c.4576G>T (p.Gly1526Ter)
|
|
|
NM_153252.5(BRWD3):c.746G>A (p.Trp249Ter)
|
|
|
NM_153676.4(USH1C):c.496+1G>A
|
rs138138689
|
|
NM_170606.3(KMT2C):c.11316_11317del (p.Gly3773fs)
|
|
|
NM_170606.3(KMT2C):c.14318del (p.Val4773fs)
|
|
|
NM_170606.3(KMT2C):c.3989T>G (p.Leu1330Ter)
|
|
|
NM_170606.3(KMT2C):c.4870_4871insTC (p.Gly1624fs)
|
rs2093658427
|
|
NM_170606.3(KMT2C):c.7123C>T (p.Gln2375Ter)
|
|
|
NM_170675.5(MEIS2):c.520C>T (p.Arg174Ter)
|
rs1555471981
|
|
NM_170675.5(MEIS2):c.934_937del (p.Leu312fs)
|
rs1595790647
|
|
NM_170707.4(LMNA):c.29C>T (p.Thr10Ile)
|
rs57077886
|
|
NM_170707.4(LMNA):c.305T>C (p.Leu102Pro)
|
rs1553262007
|
|
NM_170707.4(LMNA):c.448A>C (p.Thr150Pro)
|
rs58917027
|
|
NM_170784.3(MKKS):c.845dup (p.Leu283fs)
|
rs1555801973
|
|
NM_172107.4(KCNQ2):c.1089C>G (p.Tyr363Ter)
|
rs1185859533
|
|
NM_172107.4(KCNQ2):c.1229dup (p.Pro411fs)
|
rs886041339
|
|
NM_172107.4(KCNQ2):c.1342C>T (p.Arg448Ter)
|
rs118192226
|
|
NM_172107.4(KCNQ2):c.1678C>T (p.Arg560Trp)
|
rs773171451
|
|
NM_172107.4(KCNQ2):c.1687G>A (p.Asp563Asn)
|
rs796052653
|
|
NM_172107.4(KCNQ2):c.1823del (p.Pro608fs)
|
rs2145497168
|
|
NM_172107.4(KCNQ2):c.2114del (p.Pro705fs)
|
rs1555850868
|
|
NM_172107.4(KCNQ2):c.2126_2127del (p.Pro709fs)
|
rs796052667
|
|
NM_172107.4(KCNQ2):c.401del (p.Ile134fs)
|
|
|
NM_172107.4(KCNQ2):c.430C>T (p.Arg144Trp)
|
|
|
NM_172107.4(KCNQ2):c.583T>C (p.Ser195Pro)
|
rs796052620
|
|
NM_172107.4(KCNQ2):c.593G>A (p.Arg198Gln)
|
rs796052621
|
|
NM_172107.4(KCNQ2):c.619C>T (p.Arg207Trp)
|
rs74315391
|
|
NM_172107.4(KCNQ2):c.637C>T (p.Arg213Trp)
|
rs118192203
|
|
NM_172107.4(KCNQ2):c.693G>C (p.Glu231Asp)
|
rs797044938
|
|
NM_172107.4(KCNQ2):c.693G>T (p.Glu231Asp)
|
rs797044938
|
|
NM_172107.4(KCNQ2):c.710A>G (p.Tyr237Cys)
|
rs797044935
|
|
NM_172107.4(KCNQ2):c.740C>T (p.Ser247Leu)
|
rs74315392
|
|
NM_172107.4(KCNQ2):c.807G>A (p.Trp269Ter)
|
rs118192208
|
|
NM_172107.4(KCNQ2):c.916G>A (p.Ala306Thr)
|
rs74315390
|
|
NM_172232.4(ABCA5):c.4320+1G>C
|
rs199753304
|
|
NM_172362.3(KCNH1):c.1070G>A (p.Arg357Gln)
|
rs886041300
|
|
NM_173495.3(PTCHD1):c.1835_1839delinsGAA (p.Met612fs)
|
rs797044922
|
|
NM_173495.3(PTCHD1):c.590_603del (p.Val197fs)
|
rs1555912049
|
|
NM_173582.6(PGM2L1):c.1303G>T (p.Glu435Ter)
|
|
|
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)
|
rs606231128
|
|
NM_173660.5(DOK7):c.28del (p.Gln10fs)
|
rs1560200925
|
|
NM_173689.7(CRB2):c.3089_3104dup (p.Gly1036fs)
|
rs879255251
|
|
NM_176787.5(PIGN):c.1675-1G>T
|
rs772411133
|
|
NM_176787.5(PIGN):c.1837C>T (p.Arg613Ter)
|
rs765995917
|
|
NM_176787.5(PIGN):c.1940del (p.Lys647fs)
|
rs1555682938
|
|
NM_176824.3(BBS7):c.1015C>T (p.Gln339Ter)
|
rs1726067442
|
|
NM_176824.3(BBS7):c.174del (p.Phe58fs)
|
rs1726987563
|
|
NM_176869.3(PPA2):c.540T>A (p.Cys180Ter)
|
|
|
NM_177559.3(CSNK2A1):c.383T>A (p.Leu128Ter)
|
rs2018374647
|
|
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg)
|
rs869312840
|
|
NM_177559.3(CSNK2A1):c.783C>A (p.Tyr261Ter)
|
rs1555761969
|
|
NM_177924.5(ASAH1):c.457+4A>G
|
rs767864356
|
|
NM_178012.5(TUBB2B):c.421G>A (p.Gly141Ser)
|
rs1412515838
|
|
NM_178014.4(TUBB):c.1201G>A (p.Glu401Lys)
|
rs587777357
|
|
NM_178014.4(TUBB):c.895A>G (p.Met299Val)
|
rs587777355
|
|
NM_181303.2(NLGN3):c.214dup (p.Val72fs)
|
rs34927195
|
|
NM_181332.3(NLGN4X):c.1747C>T (p.Arg583Trp)
|
rs1555913640
|
|
NM_181332.3(NLGN4X):c.334dup (p.Gln112fs)
|
|
|
NM_181523.3(PIK3R1):c.1425+1G>A
|
rs587777709
|
|
NM_181523.3(PIK3R1):c.1425+1G>C
|
rs587777709
|
|
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp)
|
rs397515453
|
|
NM_181552.4(CUX1):c.1558C>T (p.Gln520Ter)
|
rs1794867368
|
|
NM_181882.3(PRX):c.231C>G (p.Tyr77Ter)
|
rs752192677
|
|
NM_182641.4(BPTF):c.1447dup (p.Thr483fs)
|
rs2059397603
|
|
NM_182641.4(BPTF):c.2346_2349del (p.Thr783fs)
|
rs2061265539
|
|
NM_182641.4(BPTF):c.2366del (p.Asn789fs)
|
rs1555639076
|
|
NM_182641.4(BPTF):c.255del (p.Ser86fs)
|
rs1598050118
|
|
NM_182641.4(BPTF):c.2598dup (p.Glu867fs)
|
rs753044214
|
|
NM_182641.4(BPTF):c.7037_7040dup (p.Gln2348fs)
|
|
|
NM_182931.3(KMT2E):c.1016del (p.Asn339fs)
|
rs1797572218
|
|
NM_182931.3(KMT2E):c.2337C>A (p.Tyr779Ter)
|
rs541493300
|
|
NM_182931.3(KMT2E):c.2620C>T (p.Arg874Ter)
|
rs1584803745
|
|
NM_182931.3(KMT2E):c.2632C>T (p.Gln878Ter)
|
|
|
NM_182931.3(KMT2E):c.2960_2964del (p.Asn986_Leu987insTer)
|
rs1798957076
|
|
NM_182931.3(KMT2E):c.3198_3234del (p.Trp1067fs)
|
rs1798970895
|
|
NM_182931.3(KMT2E):c.4829dup (p.Leu1610fs)
|
rs1243172283
|
|
NM_182931.3(KMT2E):c.871C>T (p.Gln291Ter)
|
|
|
NM_182961.4(SYNE1):c.16390-2A>G
|
rs759460806
|
|
NM_182961.4(SYNE1):c.17816_17820del (p.Asp5939fs)
|
rs794727986
|
|
NM_183050.4(BCKDHB):c.508C>T (p.Arg170Cys)
|
rs398124581
|
|
NM_183075.3(CYP2U1):c.1210_1211del (p.Glu404fs)
|
rs767024102
|
|
NM_183235.3(RAB27A):c.377del (p.Pro126fs)
|
rs1895696380
|
|
NM_183357.3(ADCY5):c.1252C>T (p.Arg418Trp)
|
rs864309483
|
|
NM_183357.3(ADCY5):c.1312dup (p.Arg438fs)
|
rs1553732126
|
|
NM_183357.3(ADCY5):c.1425C>G (p.Ile475Met)
|
rs757156390
|
|
NM_183357.3(ADCY5):c.409_428del (p.Gly137fs)
|
rs1553751262
|
|
NM_183357.3(ADCY5):c.409_428dup (p.Ser145fs)
|
rs1553751262
|
|
NM_194277.3(FRMD7):c.3G>A (p.Met1Ile)
|
rs1929193313
|
|
NM_194279.4(ISCA2):c.139G>T (p.Glu47Ter)
|
|
|
NM_194292.3(SASS6):c.1186dup (p.Thr396fs)
|
rs1193888919
|
|
NM_194318.4(B3GLCT):c.335del (p.Pro112fs)
|
rs2137805318
|
|
NM_197968.4(ZMYM2):c.1026_1027del (p.Gln342fs)
|
|
|
NM_197968.4(ZMYM2):c.1129A>T (p.Lys377Ter)
|
|
|
NM_197968.4(ZMYM2):c.1615del (p.Cys539fs)
|
|
|
NM_197968.4(ZMYM2):c.2338C>T (p.Arg780Ter)
|
rs757669327
|
|
NM_197968.4(ZMYM2):c.2727dup (p.Val910fs)
|
|
|
NM_197968.4(ZMYM2):c.391C>T (p.Gln131Ter)
|
|
|
NM_197968.4(ZMYM2):c.569T>G (p.Leu190Ter)
|
|
|
NM_198173.3(GRHL3):c.934C>T (p.Gln312Ter)
|
|
|
NM_198239.2(CCN6):c.1010G>A (p.Cys337Tyr)
|
rs781986930
|
|
NM_198239.2(CCN6):c.879dup (p.Thr294fs)
|
rs1554314738
|
|
NM_198525.3(KIF7):c.2530G>T (p.Glu844Ter)
|
|
|
NM_198880.3(QRICH1):c.1149_1150del (p.Phe384fs)
|
rs1376687924
|
|
NM_198880.3(QRICH1):c.1292dup (p.Pro432fs)
|
rs2106903309
|
|
NM_198880.3(QRICH1):c.1828G>T (p.Glu610Ter)
|
|
|
NM_198880.3(QRICH1):c.259C>T (p.Gln87Ter)
|
|
|
NM_198880.3(QRICH1):c.325C>T (p.Gln109Ter)
|
|
|
NM_198880.3(QRICH1):c.400C>T (p.Gln134Ter)
|
|
|
NM_198904.4(GABRG2):c.212_215del (p.Asn71fs)
|
|
|
NM_198904.4(GABRG2):c.316G>A (p.Ala106Thr)
|
rs796052505
|
|
NM_198904.4(GABRG2):c.670C>T (p.Arg224Ter)
|
rs1045493304
|
|
NM_198904.4(GABRG2):c.968G>A (p.Arg323Gln)
|
rs397514737
|
|
NM_199334.5(THRA):c.1137del (p.Cys380fs)
|
rs746765465
|
|
NM_201253.3(CRB1):c.3172G>T (p.Glu1058Ter)
|
rs564754426
|
|
NM_201253.3(CRB1):c.57dup (p.Ile20fs)
|
rs1343680080
|
|
NM_203446.3(SYNJ1):c.1821del (p.Gln608fs)
|
rs1057524879
|
|
NM_203446.3(SYNJ1):c.3248-2A>G
|
rs1057524880
|
|
NM_203447.4(DOCK8):c.918_919insTTGAACT (p.Asp310fs)
|
rs1064793335
|
|
NM_203475.3(PORCN):c.268C>T (p.Arg90Ter)
|
rs1114167283
|
|
NM_203475.3(PORCN):c.566G>A (p.Trp189Ter)
|
rs2147124229
|
|
NM_203475.3(PORCN):c.727C>T (p.Arg243Ter)
|
|
|
NM_205768.3(ZBTB18):c.1035_1039del (p.Glu345fs)
|
rs1553270522
|
|
NM_205768.3(ZBTB18):c.1183C>T (p.Gln395Ter)
|
rs875989786
|
|
NM_205768.3(ZBTB18):c.1382A>G (p.Asn461Ser)
|
rs797044885
|
|
NM_205768.3(ZBTB18):c.583C>T (p.Arg195Ter)
|
rs1064792999
|
|
NM_206933.4(USH2A):c.14698C>T (p.Gln4900Ter)
|
rs1553250072
|
|
NM_206933.4(USH2A):c.9424G>T (p.Gly3142Ter)
|
rs397518048
|
|
NM_206937.2(LIG4):c.1904del (p.Lys635fs)
|
rs375554612
|
|
NM_206937.2(LIG4):c.613del (p.Ser205fs)
|
rs780879476
|
|
NM_206965.2(FTCD):c.1366dup (p.Glu456fs)
|
rs777099958
|
|
NM_206965.2(FTCD):c.990dup (p.Pro331fs)
|
rs398124234
|
|
NM_207037.2(TCF12):c.1483del (p.Glu495fs)
|
|
|
NM_207037.2(TCF12):c.1540dup (p.Ser514fs)
|
|
|
NM_207037.2(TCF12):c.798T>G (p.Tyr266Ter)
|
rs1417620080
|
|
NM_207122.2(EXT2):c.1171C>T (p.Gln391Ter)
|
rs570580540
|
|
NM_207122.2(EXT2):c.829G>T (p.Gly277Ter)
|
|
|
NM_207346.3(TSEN54):c.856_862dup (p.Val288fs)
|
|
|
NM_207581.4(DUOXA2):c.738C>G (p.Tyr246Ter)
|
rs4774518
|
|
NM_212482.4(FN1):c.3051G>T (p.Trp1017Cys)
|
rs797044906
|
|
NM_213655.5(WNK1):c.2228_2229dup (p.Thr744fs)
|
rs1307515994
|
|
NM_213655.5(WNK1):c.2673_2674del (p.Ala891_Ser892insTer)
|
|
|
NM_213655.5(WNK1):c.2898_2899del (p.Gln966fs)
|
rs1951859185
|
|
NM_213655.5(WNK1):c.3274C>T (p.Gln1092Ter)
|
|
|
NM_213655.5(WNK1):c.3492dup (p.Asp1165Ter)
|
rs1951913764
|
|