NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)
|
rs1800562
|
0.03880
|
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)
|
rs13078881
|
0.03225
|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_000110.4(DPYD):c.1905+1G>A
|
rs3918290
|
0.00474
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
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_001329943.3(KIAA0586):c.392del (p.Arg131fs)
|
rs534542684
|
0.00347
|
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp)
|
rs36053993
|
0.00341
|
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_000406.3(GNRHR):c.317A>G (p.Gln106Arg)
|
rs104893836
|
0.00234
|
NM_004562.3(PRKN):c.823C>T (p.Arg275Trp)
|
rs34424986
|
0.00226
|
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_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)
|
rs137852769
|
0.00182
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
NM_024818.6(UBA5):c.1111G>A (p.Ala371Thr)
|
rs114925667
|
0.00169
|
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn)
|
rs121434346
|
0.00168
|
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys)
|
rs34612342
|
0.00168
|
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_000372.5(TYR):c.650G>A (p.Arg217Gln)
|
rs61754365
|
0.00143
|
NM_001171.6(ABCC6):c.3421C>T (p.Arg1141Ter)
|
rs72653706
|
0.00122
|
NM_000048.4(ASL):c.35G>A (p.Arg12Gln)
|
rs145138923
|
0.00120
|
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_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)
|
rs191312027
|
0.00101
|
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln)
|
rs76151636
|
0.00100
|
NM_001083116.3(PRF1):c.50del (p.Leu17fs)
|
rs147035858
|
0.00100
|
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser)
|
rs113994152
|
0.00092
|
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_004004.6(GJB2):c.269T>C (p.Leu90Pro)
|
rs80338945
|
0.00066
|
NM_013339.4(ALG6):c.257+5G>A
|
rs199682486
|
0.00065
|
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro)
|
rs145303331
|
0.00062
|
NM_004004.6(GJB2):c.167del (p.Leu56fs)
|
rs80338942
|
0.00058
|
NM_139242.4(MTFMT):c.626C>T (p.Ser209Leu)
|
rs201431517
|
0.00058
|
NM_021971.4(GMPPB):c.79G>C (p.Asp27His)
|
rs142336618
|
0.00054
|
NM_000391.4(TPP1):c.509-1G>C
|
rs56144125
|
0.00053
|
NM_000372.5(TYR):c.1037-7T>A
|
rs61754381
|
0.00051
|
NM_000372.5(TYR):c.1118C>A (p.Thr373Lys)
|
rs61754388
|
0.00051
|
NM_012144.4(DNAI1):c.48+2dup
|
rs397515363
|
0.00050
|
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys)
|
rs80338794
|
0.00049
|
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)
|
rs1805137
|
0.00048
|
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_004004.6(GJB2):c.416G>A (p.Ser139Asn)
|
rs76434661
|
0.00047
|
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)
|
rs387906309
|
0.00046
|
NM_001130987.2(DYSF):c.2697+1G>A
|
rs140108514
|
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_000275.3(OCA2):c.1465A>G (p.Asn489Asp)
|
rs121918170
|
0.00043
|
NM_006412.4(AGPAT2):c.589-2A>G
|
rs116807569
|
0.00043
|
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg)
|
rs121907998
|
0.00041
|
NM_001282225.2(ADA2):c.506G>A (p.Arg169Gln)
|
rs77563738
|
0.00041
|
NM_001059.3(TACR3):c.824G>A (p.Trp275Ter)
|
rs144292455
|
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_001395891.1(CLASP1):c.196-605C>T
|
rs188343279
|
0.00038
|
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu)
|
rs28940893
|
0.00037
|
NM_005373.3(MPL):c.305G>C (p.Arg102Pro)
|
rs28928907
|
0.00035
|
NM_014444.5(TUBGCP4):c.1746G>T (p.Leu582=)
|
rs200092283
|
0.00034
|
NM_017739.4(POMGNT1):c.1539+1G>A
|
rs138642840
|
0.00034
|
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer)
|
rs747253294
|
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_000372.5(TYR):c.140G>A (p.Gly47Asp)
|
rs61753180
|
0.00029
|
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs)
|
rs398122391
|
0.00029
|
NM_018451.5(CENPJ):c.1586C>G (p.Ser529Ter)
|
rs202058504
|
0.00029
|
NM_014321.4(ORC6):c.2T>C (p.Met1Thr)
|
rs146795505
|
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_000159.4(GCDH):c.680G>C (p.Arg227Pro)
|
rs121434373
|
0.00026
|
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)
|
rs11549407
|
0.00026
|
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter)
|
rs138156467
|
0.00026
|
NM_004287.5(GOSR2):c.336+1G>A
|
rs141554661
|
0.00026
|
NM_006118.4(HAX1):c.91del (p.Glu31fs)
|
rs764082747
|
0.00026
|
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe)
|
rs137853011
|
0.00026
|
NM_153704.6(TMEM67):c.622A>T (p.Arg208Ter)
|
rs137853108
|
0.00026
|
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_001918.5(DBT):c.901C>T (p.Arg301Cys)
|
rs185492864
|
0.00025
|
NM_000026.4(ADSL):c.1277G>A (p.Arg426His)
|
rs119450941
|
0.00024
|
NM_000275.3(OCA2):c.2228C>T (p.Pro743Leu)
|
rs121918167
|
0.00023
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
NM_152743.4(BRAT1):c.294dup (p.Leu99fs)
|
rs776913277
|
0.00022
|
NM_000369.5(TSHR):c.1637G>A (p.Trp546Ter)
|
rs121908866
|
0.00021
|
NM_000406.3(GNRHR):c.416G>A (p.Arg139His)
|
rs104893842
|
0.00021
|
NM_000550.3(TYRP1):c.1261+1G>A
|
rs140365820
|
0.00021
|
NM_002435.3(MPI):c.656G>A (p.Arg219Gln)
|
rs104894489
|
0.00021
|
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
|
rs80338948
|
0.00021
|
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs)
|
rs80359550
|
0.00019
|
NM_000152.5(GAA):c.525del (p.Glu176fs)
|
rs386834235
|
0.00019
|
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys)
|
rs183105855
|
0.00019
|
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp)
|
rs121434369
|
0.00019
|
NM_000352.6(ABCC8):c.3989-9G>A
|
rs151344623
|
0.00019
|
NM_000372.5(TYR):c.823G>T (p.Val275Phe)
|
rs104894314
|
0.00019
|
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser)
|
rs137853096
|
0.00019
|
NM_000372.5(TYR):c.242C>T (p.Pro81Leu)
|
rs28940876
|
0.00018
|
NM_005373.3(MPL):c.79+2T>A
|
rs146249964
|
0.00018
|
NM_000549.5(TSHB):c.373del (p.Cys125fs)
|
rs755485552
|
0.00017
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)
|
rs104893851
|
0.00017
|
NM_000348.4(SRD5A2):c.692A>G (p.His231Arg)
|
rs121434251
|
0.00016
|
NM_000463.3(UGT1A1):c.1456T>G (p.Tyr486Asp)
|
rs34993780
|
0.00016
|
NM_001018115.3(FANCD2):c.2715+1G>A
|
rs201811817
|
0.00016
|
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)
|
rs111033294
|
0.00016
|
NM_004153.4(ORC1):c.314G>A (p.Arg105Gln)
|
rs143141689
|
0.00016
|
NM_004826.4(ECEL1):c.997C>T (p.Arg333Ter)
|
rs370167241
|
0.00016
|
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_001905.4(CTPS1):c.1692-1G>C
|
rs145092287
|
0.00015
|
NM_003119.4(SPG7):c.1715C>T (p.Ala572Val)
|
rs72547551
|
0.00015
|
NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter)
|
rs137852994
|
0.00015
|
NM_000159.4(GCDH):c.1240G>A (p.Glu414Lys)
|
rs147611168
|
0.00014
|
NM_000275.3(OCA2):c.1182+1G>A
|
rs371963034
|
0.00014
|
NM_000372.5(TYR):c.1467dup (p.Ala490fs)
|
rs61754399
|
0.00014
|
NM_002768.5(CHMP1A):c.88C>T (p.Gln30Ter)
|
rs397515426
|
0.00014
|
NM_005236.3(ERCC4):c.579G>A (p.Trp193Ter)
|
rs753325454
|
0.00014
|
NM_000053.4(ATP7B):c.2755C>G (p.Arg919Gly)
|
rs121907993
|
0.00013
|
NM_000540.3(RYR1):c.6721C>T (p.Arg2241Ter)
|
rs200563280
|
0.00013
|
NM_000709.4(BCKDHA):c.1312T>A (p.Tyr438Asn)
|
rs137852870
|
0.00013
|
NM_001048174.2(MUTYH):c.849+3A>C
|
rs587780751
|
0.00013
|
NM_001126128.2(PROK2):c.163del (p.Ser54_Ile55insTer)
|
rs554675432
|
0.00013
|
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)
|
rs104894398
|
0.00013
|
NM_018129.4(PNPO):c.98A>T (p.Asp33Val)
|
rs370243877
|
0.00013
|
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter)
|
rs201599657
|
0.00013
|
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter)
|
rs761341952
|
0.00012
|
NM_016222.4(DDX41):c.3G>A (p.Met1Ile)
|
rs141601766
|
0.00012
|
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met)
|
rs72552255
|
0.00011
|
NM_000288.4(PEX7):c.903+1G>C
|
rs148591292
|
0.00011
|
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)
|
rs138818907
|
0.00011
|
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)
|
rs80338686
|
0.00011
|
NM_000288.4(PEX7):c.120C>G (p.Tyr40Ter)
|
rs61753238
|
0.00010
|
NM_013382.7(POMT2):c.1997A>G (p.Tyr666Cys)
|
rs200198778
|
0.00010
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
NM_152564.5(VPS13B):c.6657+1G>A
|
rs180177366
|
0.00010
|
NM_183050.4(BCKDHB):c.548G>C (p.Arg183Pro)
|
rs79761867
|
0.00010
|
NM_000026.4(ADSL):c.340T>C (p.Tyr114His)
|
rs374259530
|
0.00009
|
NM_000053.4(ATP7B):c.3955C>T (p.Arg1319Ter)
|
rs193922109
|
0.00009
|
NM_000277.3(PAH):c.117C>G (p.Phe39Leu)
|
rs62642926
|
0.00009
|
NM_001128126.3(AP4S1):c.289C>T (p.Arg97Ter)
|
rs200440467
|
0.00009
|
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter)
|
rs373740199
|
0.00009
|
NM_003560.4(PLA2G6):c.1799G>A (p.Arg600Gln)
|
rs149712244
|
0.00009
|
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)
|
rs104894408
|
0.00009
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
NM_213622.4(STAMBP):c.112C>T (p.Arg38Cys)
|
rs143739249
|
0.00009
|
NM_000275.3(OCA2):c.1503+5G>A
|
rs368124046
|
0.00008
|
NM_000372.5(TYR):c.613C>A (p.Pro205Thr)
|
rs61754362
|
0.00008
|
NM_001363711.2(DUOX2):c.3329G>A (p.Arg1110Gln)
|
rs368488511
|
0.00008
|
NM_004004.6(GJB2):c.132G>A (p.Trp44Ter)
|
rs104894407
|
0.00008
|
NM_004004.6(GJB2):c.283G>A (p.Val95Met)
|
rs111033299
|
0.00008
|
NM_001017420.3(ESCO2):c.1132-7A>G
|
rs80359862
|
0.00007
|
NM_001080.3(ALDH5A1):c.612G>A (p.Trp204Ter)
|
rs118203982
|
0.00007
|
NM_001384732.1(CPLANE1):c.493del (p.Ile165fs)
|
rs606231259
|
0.00007
|
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer)
|
rs762890562
|
0.00007
|
NM_018294.6(CWF19L1):c.964+1G>A
|
rs587780326
|
0.00007
|
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)
|
rs28904921
|
0.00006
|
NM_000053.4(ATP7B):c.3796G>A (p.Gly1266Arg)
|
rs121907992
|
0.00006
|
NM_000102.4(CYP17A1):c.286C>T (p.Arg96Trp)
|
rs104894138
|
0.00006
|
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter)
|
rs148100796
|
0.00006
|
NM_000310.4(PPT1):c.223A>C (p.Thr75Pro)
|
rs137852696
|
0.00006
|
NM_000372.5(TYR):c.1A>G (p.Met1Val)
|
rs28940881
|
0.00006
|
NM_000372.5(TYR):c.230G>A (p.Arg77Gln)
|
rs61753185
|
0.00006
|
NM_000372.5(TYR):c.896G>A (p.Arg299His)
|
rs61754375
|
0.00006
|
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val)
|
rs74315475
|
0.00006
|
NM_000540.3(RYR1):c.9579C>G (p.Cys3193Trp)
|
rs587784379
|
0.00006
|
NM_002168.4(IDH2):c.419G>A (p.Arg140Gln)
|
rs121913502
|
0.00006
|
NM_003119.4(SPG7):c.2228T>C (p.Ile743Thr)
|
rs752623413
|
0.00006
|
NM_003124.5(SPR):c.751A>T (p.Lys251Ter)
|
rs121917747
|
0.00006
|
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter)
|
rs121908680
|
0.00006
|
NM_014714.4(IFT140):c.2399+1G>T
|
rs376586707
|
0.00006
|
NM_018136.5(ASPM):c.10168C>T (p.Arg3390Ter)
|
rs587783211
|
0.00006
|
NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter)
|
rs771578775
|
0.00006
|
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter)
|
rs137852832
|
0.00006
|
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter)
|
rs587781321
|
0.00006
|
NM_153704.6(TMEM67):c.579_580del (p.Gly195fs)
|
rs386834202
|
0.00006
|
NM_183235.3(RAB27A):c.550C>T (p.Arg184Ter)
|
rs200956636
|
0.00006
|
NM_198253.3(TERT):c.-57A>C
|
rs878855297
|
0.00006
|
NM_000048.4(ASL):c.544C>T (p.Arg182Ter)
|
rs398123126
|
0.00005
|
NM_000053.4(ATP7B):c.2123T>C (p.Leu708Pro)
|
rs121908000
|
0.00005
|
NM_000053.4(ATP7B):c.2128G>A (p.Gly710Ser)
|
rs137853285
|
0.00005
|
NM_000124.4(ERCC6):c.2203C>T (p.Arg735Ter)
|
rs121917901
|
0.00005
|
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)
|
rs367543058
|
0.00005
|
NM_001077418.3(TMEM231):c.664+4A>G
|
rs760426025
|
0.00005
|
NM_001113378.2(FANCI):c.1461T>A (p.Tyr487Ter)
|
rs769248873
|
0.00005
|
NM_001194998.2(CEP152):c.1155del (p.Thr386fs)
|
rs587783414
|
0.00005
|
NM_001278716.2(FBXL4):c.64C>T (p.Arg22Ter)
|
rs200440128
|
0.00005
|
NM_001395413.1(POR):c.1361G>A (p.Arg454His)
|
rs28931608
|
0.00005
|
NM_005373.3(MPL):c.235_236del (p.Leu79fs)
|
rs587778514
|
0.00005
|
NM_005912.3(MC4R):c.913C>T (p.Arg305Trp)
|
rs549442687
|
0.00005
|
NM_016222.4(DDX41):c.142C>T (p.Gln48Ter)
|
rs377745714
|
0.00005
|
NM_018249.6(CDK5RAP2):c.4005-1G>A
|
rs587783387
|
0.00005
|
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)
|
rs587779852
|
0.00004
|
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)
|
rs587782652
|
0.00004
|
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter)
|
rs587779884
|
0.00004
|
NM_000059.4(BRCA2):c.9382C>T (p.Arg3128Ter)
|
rs80359212
|
0.00004
|
NM_000197.2(HSD17B3):c.278-1G>C
|
rs149607031
|
0.00004
|
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg)
|
rs137852676
|
0.00004
|
NM_000372.5(TYR):c.1204C>T (p.Arg402Ter)
|
rs62645917
|
0.00004
|
NM_000372.5(TYR):c.832C>T (p.Arg278Ter)
|
rs62645904
|
0.00004
|
NM_000540.3(RYR1):c.6617C>T (p.Thr2206Met)
|
rs118192177
|
0.00004
|
NM_001378454.1(ALMS1):c.10480C>T (p.Gln3494Ter)
|
rs772624348
|
0.00004
|
NM_001384732.1(CPLANE1):c.8872C>T (p.Arg2958Ter)
|
rs141507441
|
0.00004
|
NM_001386393.1(PANK2):c.881A>T (p.Asn294Ile)
|
rs752078407
|
0.00004
|
NM_001395413.1(POR):c.723-2A>T
|
rs782343026
|
0.00004
|
NM_001918.5(DBT):c.75_76del (p.Cys26fs)
|
rs768832921
|
0.00004
|
NM_004004.6(GJB2):c.107T>C (p.Leu36Pro)
|
rs587783644
|
0.00004
|
NM_005592.4(MUSK):c.79+2T>G
|
rs200783529
|
0.00004
|
NM_007254.4(PNKP):c.636+1G>T
|
rs1247055716
|
0.00004
|
NM_007294.4(BRCA1):c.181T>G (p.Cys61Gly)
|
rs28897672
|
0.00004
|
NM_014444.5(TUBGCP4):c.579dup (p.Gly194fs)
|
rs794726855
|
0.00004
|
NM_018136.5(ASPM):c.3811C>T (p.Arg1271Ter)
|
rs140602858
|
0.00004
|
NM_018136.5(ASPM):c.9910C>T (p.Arg3304Ter)
|
rs587783295
|
0.00004
|
NM_018249.6(CDK5RAP2):c.524_528del (p.Gln175fs)
|
rs587783393
|
0.00004
|
NM_018344.6(SLC29A3):c.1087C>T (p.Arg363Trp)
|
rs387907067
|
0.00004
|
NM_018941.4(CLN8):c.499G>T (p.Glu167Ter)
|
rs144495588
|
0.00004
|
NM_020461.4(TUBGCP6):c.895C>T (p.Arg299Ter)
|
rs192919234
|
0.00004
|
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp)
|
rs775076977
|
0.00004
|
NM_024596.5(MCPH1):c.1869_1870del (p.Ser623_Cys624insTer)
|
rs587783735
|
0.00004
|
NM_138387.4(G6PC3):c.130C>T (p.Pro44Ser)
|
rs775224457
|
0.00004
|
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser)
|
rs121907990
|
0.00003
|
NM_000059.4(BRCA2):c.6275_6276del (p.Leu2092fs)
|
rs11571658
|
0.00003
|
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)
|
rs371897078
|
0.00003
|
NM_000162.5(GCK):c.106C>T (p.Arg36Trp)
|
rs762263694
|
0.00003
|
NM_000320.3(QDPR):c.545+1G>A
|
rs761619802
|
0.00003
|
NM_000372.5(TYR):c.1064C>T (p.Ala355Val)
|
rs151206295
|
0.00003
|
NM_000372.5(TYR):c.346C>T (p.Arg116Ter)
|
rs61753256
|
0.00003
|
NM_000384.3(APOB):c.10238del (p.Thr3413fs)
|
rs756209187
|
0.00003
|
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys)
|
rs764552042
|
0.00003
|
NM_000525.4(KCNJ11):c.844G>A (p.Glu282Lys)
|
rs267607196
|
0.00003
|
NM_001005373.4(LRSAM1):c.1913-1G>A
|
rs756880678
|
0.00003
|
NM_001037.5(SCN1B):c.363C>G (p.Cys121Trp)
|
rs104894718
|
0.00003
|
NM_001077418.3(TMEM231):c.438+1G>A
|
rs1415483600
|
0.00003
|
NM_001267550.2(TTN):c.6555_6556insTGTAAGGAAACAGACA (p.Lys2186fs)
|
rs587780494
|
0.00003
|
NM_001365999.1(SZT2):c.5872C>T (p.Arg1958Ter)
|
rs145577757
|
0.00003
|
NM_003560.4(PLA2G6):c.1612C>T (p.Arg538Cys)
|
rs370691849
|
0.00003
|
NM_003560.4(PLA2G6):c.2370_2371del (p.Tyr790_Glu791delinsTer)
|
rs587784353
|
0.00003
|
NM_004004.6(GJB2):c.298C>T (p.His100Tyr)
|
rs143343083
|
0.00003
|
NM_004004.6(GJB2):c.508_511dup (p.Ala171fs)
|
rs773528125
|
0.00003
|
NM_005373.3(MPL):c.1422G>A (p.Trp474Ter)
|
rs754859909
|
0.00003
|
NM_005912.3(MC4R):c.750_751del (p.Ile251fs)
|
rs13447339
|
0.00003
|
NM_006412.4(AGPAT2):c.406G>A (p.Gly136Arg)
|
rs797045222
|
0.00003
|
NM_015665.6(AAAS):c.1331+1G>A
|
rs150511103
|
0.00003
|
NM_018075.5(ANO10):c.337+1G>A
|
rs765592794
|
0.00003
|
NM_025243.4(SLC19A3):c.854G>A (p.Trp285Ter)
|
rs373198092
|
0.00003
|
NM_138387.4(G6PC3):c.565C>T (p.Arg189Ter)
|
rs745582203
|
0.00003
|
NM_138387.4(G6PC3):c.765_766del (p.Ala257fs)
|
rs748931188
|
0.00003
|
NM_000070.3(CAPN3):c.2243G>A (p.Arg748Gln)
|
rs587780290
|
0.00002
|
NM_000124.4(ERCC6):c.2923C>T (p.Arg975Ter)
|
rs772801089
|
0.00002
|
NM_000152.5(GAA):c.1912G>T (p.Gly638Trp)
|
rs757617999
|
0.00002
|
NM_000208.4(INSR):c.707A>G (p.His236Arg)
|
rs121913145
|
0.00002
|
NM_000341.4(SLC3A1):c.1500+1G>T
|
rs886042834
|
0.00002
|
NM_000348.4(SRD5A2):c.16C>T (p.Gln6Ter)
|
rs9332960
|
0.00002
|
NM_000352.6(ABCC8):c.1501G>A (p.Glu501Lys)
|
rs372307320
|
0.00002
|
NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter)
|
rs139328569
|
0.00002
|
NM_000352.6(ABCC8):c.2506C>T (p.Arg836Ter)
|
rs72559722
|
0.00002
|
NM_000352.6(ABCC8):c.4297G>A (p.Gly1433Ser)
|
rs781090024
|
0.00002
|
NM_000372.5(TYR):c.1037-1G>A
|
rs61754382
|
0.00002
|
NM_000463.3(UGT1A1):c.1021C>T (p.Arg341Ter)
|
rs72551349
|
0.00002
|
NM_001012339.3(DNAJC21):c.983+1G>A
|
rs368148362
|
0.00002
|
NM_001035.3(RYR2):c.6800G>A (p.Arg2267His)
|
rs759012078
|
0.00002
|
NM_001083961.2(WDR62):c.3514+1G>A
|
rs199736219
|
0.00002
|
NM_001166114.2(PNPLA6):c.3355G>A (p.Gly1119Arg)
|
rs773955314
|
0.00002
|
NM_001205254.2(OCLN):c.1037+1G>A
|
rs748442113
|
0.00002
|
NM_001211.6(BUB1B):c.340C>T (p.Arg114Ter)
|
rs769350713
|
0.00002
|
NM_001267550.2(TTN):c.29245C>T (p.Gln9749Ter)
|
rs746721983
|
0.00002
|
NM_001353108.3(CEP63):c.1068-1G>A
|
rs752207334
|
0.00002
|
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)
|
rs104893686
|
0.00002
|
NM_001378454.1(ALMS1):c.4153dup (p.Thr1385fs)
|
rs797045228
|
0.00002
|
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)
|
rs587782545
|
0.00002
|
NM_003560.4(PLA2G6):c.2215G>C (p.Asp739His)
|
rs587784349
|
0.00002
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
NM_006031.6(PCNT):c.1468C>T (p.Gln490Ter)
|
rs181690344
|
0.00002
|
NM_006031.6(PCNT):c.2347dup (p.Gln783fs)
|
rs766116729
|
0.00002
|
NM_006031.6(PCNT):c.3880G>T (p.Glu1294Ter)
|
rs1359618876
|
0.00002
|
NM_006031.6(PCNT):c.5992C>T (p.Gln1998Ter)
|
rs757577162
|
0.00002
|
NM_014363.6(SACS):c.8716C>T (p.Arg2906Ter)
|
rs750732115
|
0.00002
|
NM_015713.5(RRM2B):c.686G>T (p.Gly229Val)
|
rs121918311
|
0.00002
|
NM_016042.4(EXOSC3):c.92G>C (p.Gly31Ala)
|
rs387907196
|
0.00002
|
NM_018122.5(DARS2):c.788G>A (p.Arg263Gln)
|
rs121918207
|
0.00002
|
NM_018136.5(ASPM):c.1671_1672del (p.Ser557fs)
|
rs587783220
|
0.00002
|
NM_018136.5(ASPM):c.2419+2T>C
|
rs587783225
|
0.00002
|
NM_018136.5(ASPM):c.2791C>T (p.Arg931Ter)
|
rs587783227
|
0.00002
|
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys)
|
rs119468004
|
0.00002
|
NM_020964.3(EPG5):c.6232C>T (p.Arg2078Ter)
|
rs587776942
|
0.00002
|
NM_024301.5(FKRP):c.1387A>G (p.Asn463Asp)
|
rs121908110
|
0.00002
|
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)
|
rs180177132
|
0.00002
|
NM_024809.5(TCTN2):c.703del (p.Leu235fs)
|
rs760830696
|
0.00002
|
NM_025114.4(CEP290):c.4393C>T (p.Arg1465Ter)
|
rs539400286
|
0.00002
|
NM_025114.4(CEP290):c.6277del (p.Val2093fs)
|
rs771454167
|
0.00002
|
NM_025137.4(SPG11):c.5623C>T (p.Gln1875Ter)
|
rs141848292
|
0.00002
|
NM_032043.3(BRIP1):c.1741C>T (p.Arg581Ter)
|
rs780020495
|
0.00002
|
NM_052859.4(RFT1):c.454A>G (p.Lys152Glu)
|
rs763862849
|
0.00002
|
NM_201525.4(ADGRG1):c.1408C>T (p.Arg470Ter)
|
rs587783652
|
0.00002
|
NC_000022.10:g.38522454delG
|
rs587784329
|
0.00001
|
NM_000023.4(SGCA):c.101G>A (p.Arg34His)
|
rs371675217
|
0.00001
|
NM_000026.4(ADSL):c.253C>T (p.Arg85Ter)
|
rs1036185928
|
0.00001
|
NM_000038.6(APC):c.3149del (p.Ala1050fs)
|
rs730882135
|
0.00001
|
NM_000044.6(AR):c.2612C>T (p.Ala871Val)
|
rs143040492
|
0.00001
|
NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs)
|
rs886041340
|
0.00001
|
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)
|
rs564652222
|
0.00001
|
NM_000051.4(ATM):c.7630-2A>C
|
rs587779866
|
0.00001
|
NM_000053.4(ATP7B):c.1969A>C (p.Ser657Arg)
|
rs372436901
|
0.00001
|
NM_000053.4(ATP7B):c.2122-8T>G
|
rs193922102
|
0.00001
|
NM_000053.4(ATP7B):c.2293G>A (p.Asp765Asn)
|
rs28942075
|
0.00001
|
NM_000053.4(ATP7B):c.2865+1G>A
|
rs587783306
|
0.00001
|
NM_000059.4(BRCA2):c.5828del (p.Ser1943fs)
|
rs80359541
|
0.00001
|
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile)
|
rs28897759
|
0.00001
|
NM_000059.4(BRCA2):c.9891_9894dup (p.Gln3299fs)
|
rs730881619
|
0.00001
|
NM_000102.4(CYP17A1):c.1319G>A (p.Arg440His)
|
rs777638364
|
0.00001
|
NM_000123.4(ERCC5):c.673-2A>G
|
rs756420203
|
0.00001
|
NM_000124.4(ERCC6):c.229C>T (p.Arg77Ter)
|
rs121917903
|
0.00001
|
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro)
|
rs1173704265
|
0.00001
|
NM_000135.4(FANCA):c.2601+1G>T
|
rs1188581065
|
0.00001
|
NM_000135.4(FANCA):c.2738A>C (p.His913Pro)
|
rs1302083447
|
0.00001
|
NM_000135.4(FANCA):c.2853-2A>C
|
rs947311062
|
0.00001
|
NM_000152.5(GAA):c.2104C>T (p.Arg702Cys)
|
rs786204645
|
0.00001
|
NM_000153.4(GALC):c.331G>A (p.Gly111Ser)
|
rs756690487
|
0.00001
|
NM_000162.5(GCK):c.676G>A (p.Val226Met)
|
rs148311934
|
0.00001
|
NM_000208.4(INSR):c.1610+2T>C
|
rs797045624
|
0.00001
|
NM_000212.3(ITGB3):c.777+1G>A
|
rs745766760
|
0.00001
|
NM_000252.3(MTM1):c.109C>T (p.Arg37Ter)
|
rs587783753
|
0.00001
|
NM_000252.3(MTM1):c.1261C>T (p.Arg421Ter)
|
rs587783771
|
0.00001
|
NM_000255.4(MMUT):c.322C>T (p.Arg108Cys)
|
rs121918257
|
0.00001
|
NM_000255.4(MMUT):c.323G>A (p.Arg108His)
|
rs483352778
|
0.00001
|
NM_000271.5(NPC1):c.1211G>A (p.Arg404Gln)
|
rs139751448
|
0.00001
|
NM_000271.5(NPC1):c.2196dup (p.Pro733fs)
|
rs398123284
|
0.00001
|
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys)
|
rs28942108
|
0.00001
|
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs)
|
rs750323164
|
0.00001
|
NM_000275.3(OCA2):c.1427A>G (p.Asn476Ser)
|
rs763819379
|
0.00001
|
NM_000275.3(OCA2):c.807+1G>T
|
rs763219039
|
0.00001
|
NM_000297.4(PKD2):c.1081C>T (p.Arg361Ter)
|
rs1578130676
|
0.00001
|
NM_000297.4(PKD2):c.964C>T (p.Arg322Trp)
|
rs1553925453
|
0.00001
|
NM_000352.6(ABCC8):c.1254_1284dup (p.Met429Ter)
|
rs768951263
|
0.00001
|
NM_000352.6(ABCC8):c.221G>A (p.Arg74Gln)
|
rs72559734
|
0.00001
|
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)
|
rs541269678
|
0.00001
|
NM_000352.6(ABCC8):c.2992C>T (p.Arg998Ter)
|
rs769518471
|
0.00001
|
NM_000352.6(ABCC8):c.331G>A (p.Gly111Arg)
|
rs761749884
|
0.00001
|
NM_000352.6(ABCC8):c.3544C>T (p.Arg1182Trp)
|
rs797045209
|
0.00001
|
NM_000352.6(ABCC8):c.3748C>T (p.Arg1250Ter)
|
rs1057516281
|
0.00001
|
NM_000352.6(ABCC8):c.4252C>T (p.Arg1418Cys)
|
rs1468762603
|
0.00001
|
NM_000352.6(ABCC8):c.4306C>T (p.Arg1436Ter)
|
rs193922402
|
0.00001
|
NM_000352.6(ABCC8):c.4369G>A (p.Ala1457Thr)
|
rs72559717
|
0.00001
|
NM_000352.6(ABCC8):c.4376T>G (p.Leu1459Arg)
|
rs971604271
|
0.00001
|
NM_000352.6(ABCC8):c.4432G>A (p.Gly1478Arg)
|
rs72559715
|
0.00001
|
NM_000352.6(ABCC8):c.76T>A (p.Cys26Ser)
|
rs1462559571
|
0.00001
|
NM_000352.6(ABCC8):c.970G>A (p.Val324Met)
|
rs1328072266
|
0.00001
|
NM_000372.5(TYR):c.1036G>T (p.Gly346Ter)
|
rs1013801316
|
0.00001
|
NM_000372.5(TYR):c.164G>A (p.Cys55Tyr)
|
rs28940879
|
0.00001
|
NM_000372.5(TYR):c.658C>T (p.Gln220Ter)
|
rs797046083
|
0.00001
|
NM_000372.5(TYR):c.74dup (p.Ser26fs)
|
rs1057518763
|
0.00001
|
NM_000372.5(TYR):c.880G>A (p.Glu294Lys)
|
rs757754120
|
0.00001
|
NM_000377.3(WAS):c.223G>A (p.Val75Met)
|
rs782290433
|
0.00001
|
NM_000404.4(GLB1):c.1498A>G (p.Thr500Ala)
|
rs72555368
|
0.00001
|
NM_000463.3(UGT1A1):c.1130G>T (p.Gly377Val)
|
rs1283652721
|
0.00001
|
NM_000463.3(UGT1A1):c.1381T>C (p.Trp461Arg)
|
rs1476500325
|
0.00001
|
NM_000463.3(UGT1A1):c.622_625dup (p.Arg209fs)
|
rs766536479
|
0.00001
|
NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter)
|
rs587781707
|
0.00001
|
NM_000525.4(KCNJ11):c.406C>T (p.Arg136Cys)
|
rs766891274
|
0.00001
|
NM_000525.4(KCNJ11):c.881C>T (p.Thr294Met)
|
rs780957825
|
0.00001
|
NM_000535.7(PMS2):c.248T>G (p.Leu83Ter)
|
rs1064794083
|
0.00001
|
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr)
|
rs118192158
|
0.00001
|
NM_000540.3(RYR1):c.4225C>T (p.Arg1409Ter)
|
rs587784376
|
0.00001
|
NM_000546.6(TP53):c.542G>A (p.Arg181His)
|
rs397514495
|
0.00001
|
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)
|
rs28934574
|
0.00001
|
NM_001005361.3(DNM2):c.1105C>T (p.Arg369Trp)
|
rs121909090
|
0.00001
|
NM_001018115.3(FANCD2):c.3481C>T (p.Gln1161Ter)
|
rs369022159
|
0.00001
|
NM_001040616.3(LINS1):c.1178T>G (p.Leu393Ter)
|
rs149644940
|
0.00001
|
NM_001128178.3(NPHP1):c.1270-1G>A
|
rs376492641
|
0.00001
|
NM_001160372.4(TRAPPC9):c.367G>T (p.Glu123Ter)
|
rs587780486
|
0.00001
|
NM_001195553.2(DCX):c.587G>A (p.Arg196His)
|
rs56030372
|
0.00001
|
NM_001258392.3(CLPB):c.829C>T (p.Arg277Ter)
|
rs1466435969
|
0.00001
|
NM_001267550.2(TTN):c.15796C>T (p.Arg5266Ter)
|
rs372277017
|
0.00001
|
NM_001267550.2(TTN):c.34612+1G>A
|
rs577363824
|
0.00001
|
NM_001360.3(DHCR7):c.841G>A (p.Val281Met)
|
rs398123607
|
0.00001
|
NM_001365088.1(SLC12A6):c.379G>T (p.Glu127Ter)
|
rs199747285
|
0.00001
|
NM_001378454.1(ALMS1):c.2819T>A (p.Leu940Ter)
|
rs539612316
|
0.00001
|
NM_001378615.1(CC2D2A):c.517C>T (p.Arg173Ter)
|
rs386833763
|
0.00001
|
NM_001384732.1(CPLANE1):c.7400+1G>A
|
rs367543062
|
0.00001
|
NM_001754.5(RUNX1):c.352-1G>A
|
rs587776809
|
0.00001
|
NM_002049.4(GATA1):c.647G>A (p.Arg216Gln)
|
rs104894809
|
0.00001
|
NM_003001.5(SDHC):c.397C>T (p.Arg133Ter)
|
rs764575966
|
0.00001
|
NM_003119.4(SPG7):c.739C>T (p.Arg247Ter)
|
rs779055639
|
0.00001
|
NM_003119.4(SPG7):c.988-1G>A
|
rs748309520
|
0.00001
|
NM_003383.5(VLDLR):c.83-1G>A
|
rs770269674
|
0.00001
|
NM_003560.4(PLA2G6):c.109C>T (p.Arg37Ter)
|
rs200075782
|
0.00001
|
NM_003560.4(PLA2G6):c.1442T>A (p.Leu481Gln)
|
rs587784330
|
0.00001
|
NM_003560.4(PLA2G6):c.1501G>C (p.Glu501Gln)
|
rs587784332
|
0.00001
|
NM_003560.4(PLA2G6):c.1699G>A (p.Glu567Lys)
|
rs587784337
|
0.00001
|
NM_003560.4(PLA2G6):c.1754C>T (p.Thr585Ile)
|
rs587784338
|
0.00001
|
NM_003560.4(PLA2G6):c.1903C>T (p.Arg635Ter)
|
rs587784339
|
0.00001
|
NM_003560.4(PLA2G6):c.2233C>T (p.Arg745Trp)
|
rs587784350
|
0.00001
|
NM_003907.3(EIF2B5):c.820C>T (p.Arg274Ter)
|
rs1334515681
|
0.00001
|
NM_004004.6(GJB2):c.365A>T (p.Lys122Ile)
|
rs111033295
|
0.00001
|
NM_004820.5(CYP7B1):c.1081C>T (p.Arg361Ter)
|
rs773976307
|
0.00001
|
NM_004826.4(ECEL1):c.1210C>T (p.Arg404Cys)
|
rs532757890
|
0.00001
|
NM_005186.4(CAPN1):c.843+1G>C
|
rs781683198
|
0.00001
|
NM_005373.3(MPL):c.1544G>T (p.Trp515Leu)
|
rs121913615
|
0.00001
|
NM_006031.6(PCNT):c.5767C>T (p.Arg1923Ter)
|
rs119479062
|
0.00001
|
NM_006031.6(PCNT):c.8868dup (p.Ala2957fs)
|
rs587784320
|
0.00001
|
NM_006031.6(PCNT):c.8917C>T (p.Arg2973Ter)
|
rs587784321
|
0.00001
|
NM_006070.6(TFG):c.316C>T (p.Arg106Cys)
|
rs587777175
|
0.00001
|
NM_006642.5(SDCCAG8):c.481C>T (p.Gln161Ter)
|
rs797045947
|
0.00001
|
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)
|
rs80357433
|
0.00001
|
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter)
|
rs41293465
|
0.00001
|
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)
|
rs267607048
|
0.00001
|
NM_014363.6(SACS):c.10906C>T (p.Arg3636Ter)
|
rs780247476
|
0.00001
|
NM_015559.3(SETBP1):c.2602G>A (p.Asp868Asn)
|
rs267607042
|
0.00001
|
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)
|
rs267607038
|
0.00001
|
NM_016222.4(DDX41):c.121C>T (p.Gln41Ter)
|
rs746278774
|
0.00001
|
NM_016222.4(DDX41):c.946_947del (p.Met316fs)
|
rs1411544367
|
0.00001
|
NM_016729.3(FOLR1):c.352C>T (p.Gln118Ter)
|
rs121918405
|
0.00001
|
NM_017777.4(MKS1):c.844C>T (p.Arg282Ter)
|
rs797045706
|
0.00001
|
NM_018100.4(EFHC1):c.826C>T (p.Arg276Ter)
|
rs796052414
|
0.00001
|
NM_018136.5(ASPM):c.10060C>T (p.Arg3354Ter)
|
rs748529285
|
0.00001
|
NM_018136.5(ASPM):c.1530_1531del (p.Glu511fs)
|
rs1404276011
|
0.00001
|
NM_018136.5(ASPM):c.2488-1G>C
|
rs1321892596
|
0.00001
|
NM_018136.5(ASPM):c.2863C>T (p.Gln955Ter)
|
rs774338373
|
0.00001
|
NM_018136.5(ASPM):c.3796G>T (p.Glu1266Ter)
|
rs199422161
|
0.00001
|
NM_018136.5(ASPM):c.3960_3961insA (p.Val1321fs)
|
rs759632528
|
0.00001
|
NM_018136.5(ASPM):c.4612C>T (p.Arg1538Ter)
|
rs751326753
|
0.00001
|
NM_018136.5(ASPM):c.6997G>T (p.Glu2333Ter)
|
rs1334947797
|
0.00001
|
NM_018136.5(ASPM):c.8017C>T (p.Gln2673Ter)
|
rs587783275
|
0.00001
|
NM_018136.5(ASPM):c.8711_8712del (p.Gln2904fs)
|
rs587783283
|
0.00001
|
NM_018136.5(ASPM):c.9454C>T (p.Arg3152Ter)
|
rs587783292
|
0.00001
|
NM_018136.5(ASPM):c.9697C>T (p.Arg3233Ter)
|
rs199422194
|
0.00001
|
NM_018136.5(ASPM):c.9730C>T (p.Arg3244Ter)
|
rs199422195
|
0.00001
|
NM_018249.6(CDK5RAP2):c.4441C>T (p.Arg1481Ter)
|
rs587783390
|
0.00001
|
NM_018249.6(CDK5RAP2):c.5227C>T (p.Gln1743Ter)
|
rs587783392
|
0.00001
|
NM_018344.6(SLC29A3):c.1228C>T (p.Gln410Ter)
|
rs587780462
|
0.00001
|
NM_018344.6(SLC29A3):c.300+1G>A
|
rs587780463
|
0.00001
|
NM_018344.6(SLC29A3):c.73C>T (p.Arg25Ter)
|
rs746408350
|
0.00001
|
NM_018451.5(CENPJ):c.1969C>T (p.Gln657Ter)
|
rs797045450
|
0.00001
|
NM_018451.5(CENPJ):c.3448C>T (p.Gln1150Ter)
|
rs587783410
|
0.00001
|
NM_020461.4(TUBGCP6):c.2356C>T (p.Arg786Ter)
|
rs772174079
|
0.00001
|
NM_020547.3(AMHR2):c.64C>T (p.Arg22Ter)
|
rs755196112
|
0.00001
|
NM_020921.4(NIN):c.2482del (p.Arg828fs)
|
rs747680111
|
0.00001
|
NM_020975.6(RET):c.2671T>G (p.Ser891Ala)
|
rs75234356
|
0.00001
|
NM_022455.5(NSD1):c.5740C>T (p.Arg1914Cys)
|
rs587784154
|
0.00001
|
NM_024675.4(PALB2):c.758dup (p.Ser254fs)
|
rs515726126
|
0.00001
|
NM_024989.4(PGAP1):c.927+1G>A
|
rs750079325
|
0.00001
|
NM_025074.7(FRAS1):c.2719C>T (p.Gln907Ter)
|
rs755750961
|
0.00001
|
NM_025099.6(CTC1):c.2452C>T (p.Arg818Ter)
|
rs760884555
|
0.00001
|
NM_031448.6(C19orf12):c.161-2del
|
rs1352744778
|
0.00001
|
NM_032122.5(DTNBP1):c.307C>T (p.Gln103Ter)
|
rs104893945
|
0.00001
|
NM_058216.3(RAD51C):c.955C>T (p.Arg319Ter)
|
rs587781287
|
0.00001
|
NM_133259.4(LRPPRC):c.1061C>T (p.Ala354Val)
|
rs119466000
|
0.00001
|
NM_152564.5(VPS13B):c.11520del (p.Arg3840fs)
|
rs747217399
|
0.00001
|
NM_152564.5(VPS13B):c.2074C>T (p.Arg692Ter)
|
rs180177356
|
0.00001
|
NM_152618.3(BBS12):c.104C>A (p.Ser35Ter)
|
rs1381368546
|
0.00001
|
NM_152783.5(D2HGDH):c.566C>T (p.Pro189Leu)
|
rs587783517
|
0.00001
|
NM_170707.4(LMNA):c.1045C>T (p.Arg349Trp)
|
rs267607555
|
0.00001
|
NM_170707.4(LMNA):c.1444C>T (p.Arg482Trp)
|
rs57920071
|
0.00001
|
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)
|
rs11575937
|
0.00001
|
NM_170707.4(LMNA):c.1786G>A (p.Asp596Asn)
|
rs769561386
|
0.00001
|
NM_170707.4(LMNA):c.673C>T (p.Arg225Ter)
|
rs60682848
|
0.00001
|
NM_173660.5(DOK7):c.331+1G>T
|
rs1349476281
|
0.00001
|
NM_173660.5(DOK7):c.596del (p.Ile199fs)
|
rs797045528
|
0.00001
|
NM_182961.4(SYNE1):c.25009C>T (p.Gln8337Ter)
|
rs797046025
|
0.00001
|
NM_201525.4(ADGRG1):c.286C>T (p.Arg96Ter)
|
rs146278035
|
0.00001
|
NM_201525.4(ADGRG1):c.620+1G>A
|
rs587783660
|
0.00001
|
NM_207346.3(TSEN54):c.1A>C (p.Met1Leu)
|
rs587784478
|
0.00001
|
NM_000017.4(ACADS):c.795+1G>A
|
rs752978753
|
|
NM_000020.3(ACVRL1):c.206G>T (p.Cys69Phe)
|
rs1318118188
|
|
NM_000020.3(ACVRL1):c.540_541insA (p.Asp181fs)
|
rs1555152774
|
|
NM_000022.4(ADA):c.956_960del (p.Glu319fs)
|
rs771266745
|
|
NM_000038.6(APC):c.4612_4613del (p.Glu1538fs)
|
rs387906236
|
|
NM_000044.6(AR):c.1846C>T (p.Arg616Cys)
|
rs1555990485
|
|
NM_000044.6(AR):c.2323C>T (p.Arg775Cys)
|
rs137852562
|
|
NM_000044.6(AR):c.2359C>T (p.Arg787Ter)
|
rs1555997580
|
|
NM_000044.6(AR):c.675_678del (p.Asn224_Tyr225insTer)
|
rs2147317782
|
|
NM_000051.4(ATM):c.103C>T (p.Arg35Ter)
|
rs55861249
|
|
NM_000051.4(ATM):c.1367del (p.Leu456fs)
|
rs1555070832
|
|
NM_000051.4(ATM):c.1898+2T>G
|
rs587782124
|
|
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs)
|
rs587781658
|
|
NM_000051.4(ATM):c.2720_2723del (p.Leu906_Cys907insTer)
|
rs786202695
|
|
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs)
|
rs757237504
|
|
NM_000051.4(ATM):c.2921+1G>A
|
rs587781558
|
|
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs)
|
rs786201675
|
|
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)
|
rs587779834
|
|
NM_000051.4(ATM):c.6228del (p.Leu2077fs)
|
rs786203008
|
|
NM_000051.4(ATM):c.6867dup (p.Glu2290Ter)
|
rs1555119834
|
|
NM_000051.4(ATM):c.7921C>T (p.Gln2641Ter)
|
rs769523686
|
|
NM_000051.4(ATM):c.8397del (p.Gln2800fs)
|
rs587781837
|
|
NM_000051.4(ATM):c.8418+5_8418+8del
|
rs730881295
|
|
NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter)
|
rs587781363
|
|
NM_000052.6(ATP7A):c.3152_3156delACGGAins4
|
|
|
NM_000052.7(ATP7A):c.1006G>T (p.Glu336Ter)
|
rs797045325
|
|
NM_000052.7(ATP7A):c.1020_1024dup (p.Leu342fs)
|
rs797045327
|
|
NM_000052.7(ATP7A):c.1225C>T (p.Arg409Ter)
|
rs72554636
|
|
NM_000052.7(ATP7A):c.1355del (p.Val452fs)
|
rs797045329
|
|
NM_000052.7(ATP7A):c.1460C>A (p.Ser487Ter)
|
rs797045330
|
|
NM_000052.7(ATP7A):c.1544-1G>A
|
rs797045331
|
|
NM_000052.7(ATP7A):c.1639C>T (p.Arg547Ter)
|
rs797045332
|
|
NM_000052.7(ATP7A):c.1667_1668del (p.Ile556fs)
|
rs797045333
|
|
NM_000052.7(ATP7A):c.1782C>G (p.Tyr594Ter)
|
rs797045336
|
|
NM_000052.7(ATP7A):c.1831G>T (p.Glu611Ter)
|
rs797045337
|
|
NM_000052.7(ATP7A):c.1870-1G>C
|
rs797045338
|
|
NM_000052.7(ATP7A):c.1874T>G (p.Leu625Ter)
|
rs797045339
|
|
NM_000052.7(ATP7A):c.1910C>T (p.Ser637Leu)
|
rs151340631
|
|
NM_000052.7(ATP7A):c.1933C>T (p.Arg645Ter)
|
rs72554640
|
|
NM_000052.7(ATP7A):c.1946+1G>C
|
rs797045340
|
|
NM_000052.7(ATP7A):c.1946+5G>A
|
rs797045341
|
|
NM_000052.7(ATP7A):c.1947-1G>C
|
rs794729231
|
|
NM_000052.7(ATP7A):c.1950G>A (p.Trp650Ter)
|
rs797045342
|
|
NM_000052.7(ATP7A):c.1978_2008dup (p.Tyr670fs)
|
rs797045343
|
|
NM_000052.7(ATP7A):c.1996G>C (p.Gly666Arg)
|
rs797045344
|
|
NM_000052.7(ATP7A):c.2160T>A (p.Cys720Ter)
|
rs797045346
|
|
NM_000052.7(ATP7A):c.2172+5G>C
|
rs797045347
|
|
NM_000052.7(ATP7A):c.2173-2A>G
|
rs797045349
|
|
NM_000052.7(ATP7A):c.2179G>A (p.Gly727Arg)
|
rs72554644
|
|
NM_000052.7(ATP7A):c.2179G>T (p.Gly727Ter)
|
rs72554644
|
|
NM_000052.7(ATP7A):c.2187G>A (p.Trp729Ter)
|
rs797045351
|
|
NM_000052.7(ATP7A):c.2248_2251dup (p.Val751fs)
|
rs797045352
|
|
NM_000052.7(ATP7A):c.2302del (p.Ala768fs)
|
rs797045353
|
|
NM_000052.7(ATP7A):c.2357T>G (p.Met786Arg)
|
rs797045354
|
|
NM_000052.7(ATP7A):c.2383C>T (p.Arg795Ter)
|
rs72554645
|
|
NM_000052.7(ATP7A):c.2395_2405delinsAGCATC (p.His799fs)
|
rs797045355
|
|
NM_000052.7(ATP7A):c.2405_2406+1delinsT
|
rs797045356
|
|
NM_000052.7(ATP7A):c.2498+2T>A
|
rs797045357
|
|
NM_000052.7(ATP7A):c.2499-1G>A
|
rs797045359
|
|
NM_000052.7(ATP7A):c.2499-1_2504dup
|
rs797045358
|
|
NM_000052.7(ATP7A):c.2555C>T (p.Pro852Leu)
|
rs797045360
|
|
NM_000052.7(ATP7A):c.2645dup (p.Ala882_Lys883insTer)
|
rs797045361
|
|
NM_000052.7(ATP7A):c.2916+3_2916+6del
|
rs797045364
|
|
NM_000052.7(ATP7A):c.2938C>T (p.Arg980Ter)
|
rs72554649
|
|
NM_000052.7(ATP7A):c.2956C>T (p.Arg986Ter)
|
rs72554650
|
|
NM_000052.7(ATP7A):c.3056G>A (p.Gly1019Asp)
|
rs72554652
|
|
NM_000052.7(ATP7A):c.3069_3083del (p.Ile1024_Gly1028del)
|
rs797045366
|
|
NM_000052.7(ATP7A):c.3112-1G>A
|
rs797045367
|
|
NM_000052.7(ATP7A):c.3124del (p.Val1042fs)
|
rs797045368
|
|
NM_000052.7(ATP7A):c.3127_3131delinsAGTACAGG (p.Phe1043_Asp1044delinsSerThrGly)
|
rs797045369
|
|
NM_000052.7(ATP7A):c.3132T>G (p.Asp1044Glu)
|
rs797045370
|
|
NM_000052.7(ATP7A):c.3285T>G (p.Tyr1095Ter)
|
rs797045372
|
|
NM_000052.7(ATP7A):c.3288C>A (p.Cys1096Ter)
|
rs797045373
|
|
NM_000052.7(ATP7A):c.3340del (p.Val1114fs)
|
rs797045375
|
|
NM_000052.7(ATP7A):c.3379G>T (p.Glu1127Ter)
|
rs797045377
|
|
NM_000052.7(ATP7A):c.3466C>T (p.Gln1156Ter)
|
rs797045378
|
|
NM_000052.7(ATP7A):c.3502C>T (p.Gln1168Ter)
|
rs797045379
|
|
NM_000052.7(ATP7A):c.3537del (p.Val1180fs)
|
rs797045380
|
|
NM_000052.7(ATP7A):c.3764G>A (p.Gly1255Glu)
|
rs797045382
|
|
NM_000052.7(ATP7A):c.3774delinsATGACTGG (p.Ser1258delinsArgTer)
|
rs797045383
|
|
NM_000052.7(ATP7A):c.3775_3776delinsTTAC (p.Lys1259fs)
|
rs797045384
|
|
NM_000052.7(ATP7A):c.3801+1G>T
|
rs797045386
|
|
NM_000052.7(ATP7A):c.3911A>G (p.Asn1304Ser)
|
rs151340632
|
|
NM_000052.7(ATP7A):c.3920C>G (p.Pro1307Arg)
|
rs797045388
|
|
NM_000052.7(ATP7A):c.3920del (p.Pro1307fs)
|
rs797045389
|
|
NM_000052.7(ATP7A):c.3943G>A (p.Gly1315Arg)
|
rs797045390
|
|
NM_000052.7(ATP7A):c.4005+1G>T
|
rs797045391
|
|
NM_000052.7(ATP7A):c.4011TCT[1] (p.Leu1339del)
|
rs797045392
|
|
NM_000052.7(ATP7A):c.4123+1G>A
|
rs797045393
|
|
NM_000052.7(ATP7A):c.4132dup (p.Met1378fs)
|
rs797045395
|
|
NM_000052.7(ATP7A):c.4226+5G>A
|
rs797045398
|
|
NM_000052.7(ATP7A):c.422_423del (p.Glu141fs)
|
rs797045397
|
|
NM_000052.7(ATP7A):c.598C>T (p.Gln200Ter)
|
rs797045399
|
|
NM_000052.7(ATP7A):c.601C>T (p.Arg201Ter)
|
rs151340633
|
|
NM_000052.7(ATP7A):c.876del (p.Ser293fs)
|
rs797045400
|
|
NM_000053.4(ATP7B):c.2165dup (p.Arg723fs)
|
rs768729972
|
|
NM_000053.4(ATP7B):c.2605G>T (p.Gly869Ter)
|
rs191312027
|
|
NM_000053.4(ATP7B):c.3011A>C (p.Gln1004Pro)
|
rs587783307
|
|
NM_000053.4(ATP7B):c.3557-1G>C
|
rs2138674428
|
|
NM_000053.4(ATP7B):c.4021G>A (p.Gly1341Ser)
|
rs587783317
|
|
NM_000053.4(ATP7B):c.4092_4093del (p.Ser1365fs)
|
rs771603301
|
|
NM_000059.4(BRCA2):c.2339C>G (p.Ser780Ter)
|
rs587781471
|
|
NM_000059.4(BRCA2):c.4471_4474del (p.Leu1491fs)
|
rs80359451
|
|
NM_000059.4(BRCA2):c.4638del (p.Phe1546fs)
|
rs80359462
|
|
NM_000059.4(BRCA2):c.5073dup (p.Trp1692fs)
|
rs80359479
|
|
NM_000059.4(BRCA2):c.581G>A (p.Trp194Ter)
|
rs80358809
|
|
NM_000059.4(BRCA2):c.6124C>T (p.Gln2042Ter)
|
rs80358851
|
|
NM_000059.4(BRCA2):c.67+1G>C
|
rs81002796
|
|
NM_000059.4(BRCA2):c.7208_7211del (p.Thr2403fs)
|
rs80359641
|
|
NM_000059.4(BRCA2):c.8817_8820del (p.Lys2939fs)
|
rs397508010
|
|
NM_000059.4(BRCA2):c.9026_9030del (p.Tyr3009fs)
|
rs80359741
|
|
NM_000059.4(BRCA2):c.9699_9702del (p.Cys3233fs)
|
rs80359775
|
|
NM_000062.3(SERPING1):c.1081C>T (p.Gln361Ter)
|
|
|
NM_000070.3(CAPN3):c.2207_2208del (p.Thr736fs)
|
rs587780289
|
|
NM_000070.3(CAPN3):c.2362_2363delinsTCATCT (p.Arg788fs)
|
rs1555423217
|
|
NM_000070.3(CAPN3):c.327_328dup (p.Arg110fs)
|
rs797045427
|
|
NM_000070.3(CAPN3):c.550del (p.Thr184fs)
|
rs80338800
|
|
NM_000080.4(CHRNE):c.1090dup (p.Arg364fs)
|
rs1156634884
|
|
NM_000080.4(CHRNE):c.130dup (p.Glu44fs)
|
rs762368691
|
|
NM_000081.4(LYST):c.8802-2A>G
|
|
|
NM_000102.4(CYP17A1):c.157TTC[1] (p.Phe54del)
|
rs121434319
|
|
NM_000124.4(ERCC6):c.2058G>A (p.Trp686Ter)
|
rs751292948
|
|
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg)
|
rs368728467
|
|
NM_000124.4(ERCC6):c.850_851insT (p.Glu284fs)
|
rs797045562
|
|
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)
|
rs397507552
|
|
NM_000135.4(FANCA):c.1294del (p.Leu432fs)
|
rs1211579979
|
|
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter)
|
rs149551759
|
|
NM_000135.4(FANCA):c.1A>G (p.Met1Val)
|
rs772751654
|
|
NM_000135.4(FANCA):c.2151+1G>A
|
rs1555548428
|
|
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter)
|
rs1555547474
|
|
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer)
|
rs1283284704
|
|
NM_000135.4(FANCA):c.3146_3147del (p.Leu1048_Phe1049insTer)
|
rs2143139166
|
|
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs)
|
rs747851434
|
|
NM_000135.4(FANCA):c.4096C>T (p.Gln1366Ter)
|
rs1336834251
|
|
NM_000135.4(FANCA):c.987_990del (p.His330fs)
|
rs772359099
|
|
NM_000138.5(FBN1):c.1759T>G (p.Cys587Gly)
|
rs1555399968
|
|
NM_000141.5(FGFR2):c.1032G>A (p.Ala344=)
|
rs121918491
|
|
NM_000141.5(FGFR2):c.1084+3A>G
|
rs879253721
|
|
NM_000141.5(FGFR2):c.866A>C (p.Gln289Pro)
|
rs121918497
|
|
NM_000141.5(FGFR2):c.870G>C (p.Trp290Cys)
|
rs121918499
|
|
NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu)
|
rs28931615
|
|
NM_000142.5(FGFR3):c.749C>G (p.Pro250Arg)
|
rs4647924
|
|
NM_000152.5(GAA):c.1781G>C (p.Arg594Pro)
|
rs775450536
|
|
NM_000152.5(GAA):c.2237G>A (p.Trp746Ter)
|
rs752921215
|
|
NM_000158.4(GBE1):c.415G>T (p.Gly139Ter)
|
rs1553690406
|
|
NM_000162.5(GCK):c.1003del (p.Val335fs)
|
rs193922254
|
|
NM_000162.5(GCK):c.1165G>C (p.Val389Leu)
|
rs1350717554
|
|
NM_000162.5(GCK):c.1245del (p.His416fs)
|
rs2128819113
|
|
NM_000162.5(GCK):c.1324G>T (p.Glu442Ter)
|
rs758737171
|
|
NM_000162.5(GCK):c.1358CGG[3] (p.Ala454dup)
|
rs1554334433
|
|
NM_000162.5(GCK):c.1367C>T (p.Ala456Val)
|
rs104894014
|
|
NM_000162.5(GCK):c.148C>T (p.His50Tyr)
|
rs1562719705
|
|
NM_000162.5(GCK):c.295del (p.Trp99fs)
|
rs1554335752
|
|
NM_000162.5(GCK):c.317_333del (p.Gln106fs)
|
rs797045595
|
|
NM_000162.5(GCK):c.469G>A (p.Glu157Lys)
|
rs1554335570
|
|
NM_000162.5(GCK):c.544G>A (p.Val182Met)
|
rs587780345
|
|
NM_000162.5(GCK):c.562G>A (p.Ala188Thr)
|
rs751279776
|
|
NM_000162.5(GCK):c.606_607insACACCGT (p.Val203fs)
|
rs2128821515
|
|
NM_000162.5(GCK):c.608T>C (p.Val203Ala)
|
rs1562717053
|
|
NM_000162.5(GCK):c.629T>C (p.Met210Thr)
|
rs80356654
|
|
NM_000162.5(GCK):c.666del (p.Gly223fs)
|
rs2096278285
|
|
NM_000162.5(GCK):c.667G>A (p.Gly223Ser)
|
rs1360415315
|
|
NM_000162.5(GCK):c.678_679+2del
|
rs1554335391
|
|
NM_000162.5(GCK):c.680-2A>G
|
rs1562715657
|
|
NM_000162.5(GCK):c.683C>T (p.Thr228Met)
|
rs80356655
|
|
NM_000162.5(GCK):c.706G>A (p.Glu236Lys)
|
rs587780347
|
|
NM_000162.5(GCK):c.76C>T (p.Gln26Ter)
|
rs193922329
|
|
NM_000162.5(GCK):c.775G>A (p.Ala259Thr)
|
rs1375656631
|
|
NM_000162.5(GCK):c.793G>A (p.Glu265Lys)
|
rs104894011
|
|
NM_000162.5(GCK):c.926T>C (p.Leu309Pro)
|
rs2128820009
|
|
NM_000162.5(GCK):c.941T>C (p.Leu314Pro)
|
rs1554334886
|
|
NM_000162.5(GCK):c.944T>A (p.Leu315His)
|
rs193922338
|
|
NM_000165.5(GJA1):c.119C>T (p.Ala40Val)
|
rs1554200992
|
|
NM_000165.5(GJA1):c.646G>T (p.Val216Leu)
|
rs1554201043
|
|
NM_000168.6(GLI3):c.2685C>G (p.Tyr895Ter)
|
rs772948115
|
|
NM_000173.7(GP1BA):c.673T>A (p.Cys225Ser)
|
rs1394634674
|
|
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer)
|
rs267608077
|
|
NM_000179.3(MSH6):c.1842del (p.Cys615fs)
|
rs730881825
|
|
NM_000179.3(MSH6):c.1871del (p.Gly624fs)
|
rs777159874
|
|
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs)
|
rs267608120
|
|
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs)
|
rs267608121
|
|
NM_000195.5(HPS1):c.1440_1459del (p.Ile481fs)
|
rs758028806
|
|
NM_000195.5(HPS1):c.1472_1487dup (p.His497fs)
|
rs281865163
|
|
NM_000195.5(HPS1):c.233_242del (p.Asn78fs)
|
rs773323079
|
|
NM_000195.5(HPS1):c.972del (p.Met325fs)
|
rs281865082
|
|
NM_000195.5(HPS1):c.9C>A (p.Cys3Ter)
|
rs750909242
|
|
NM_000207.3(INS):c.-152C>G
|
rs748749585
|
|
NM_000207.3(INS):c.188-31G>A
|
rs797045623
|
|
NM_000207.3(INS):c.265C>T (p.Arg89Cys)
|
rs80356669
|
|
NM_000207.3(INS):c.71C>A (p.Ala24Asp)
|
rs80356663
|
|
NM_000207.3(INS):c.94G>A (p.Gly32Ser)
|
rs80356664
|
|
NM_000208.4(INSR):c.3602G>A (p.Arg1201Gln)
|
rs121913156
|
|
NM_000209.4(PDX1):c.188del (p.Pro63fs)
|
rs193929377
|
|
NM_000209.4(PDX1):c.533A>G (p.Glu178Gly)
|
rs387906777
|
|
NM_000216.4(ANOS1):c.109G>T (p.Glu37Ter)
|
rs1555904591
|
|
NM_000218.3(KCNQ1):c.364dup (p.Cys122fs)
|
rs397508109
|
|
NM_000233.4(LHCGR):c.35_36insCA (p.Lys12fs)
|
rs2103767948
|
|
NM_000249.4(MLH1):c.1846AAG[2] (p.Lys618del)
|
rs63751247
|
|
NM_000249.4(MLH1):c.350C>T (p.Thr117Met)
|
rs63750781
|
|
NM_000252.2(MTM1):c.1227_1228delinsT (p.Lys409fs)
|
rs797045711
|
|
NM_000252.3(MTM1):c.1015dup (p.Ser339fs)
|
rs797045709
|
|
NM_000252.3(MTM1):c.1053+1G>C
|
rs587783751
|
|
NM_000252.3(MTM1):c.1088_1089del (p.Lys363fs)
|
rs587783752
|
|
NM_000252.3(MTM1):c.1089dup (p.Val364fs)
|
rs587783752
|
|
NM_000252.3(MTM1):c.1109C>G (p.Ser370Ter)
|
rs1557414505
|
|
NM_000252.3(MTM1):c.1120C>G (p.His374Asp)
|
rs587783754
|
|
NM_000252.3(MTM1):c.1132G>A (p.Gly378Arg)
|
rs587783755
|
|
NM_000252.3(MTM1):c.1136G>A (p.Trp379Ter)
|
rs587783756
|
|
NM_000252.3(MTM1):c.1137G>A (p.Trp379Ter)
|
rs587783757
|
|
NM_000252.3(MTM1):c.1139A>T (p.Asp380Val)
|
rs587783758
|
|
NM_000252.3(MTM1):c.1160C>A (p.Ser387Tyr)
|
rs587783759
|
|
NM_000252.3(MTM1):c.1178dup (p.Leu393fs)
|
rs1557414513
|
|
NM_000252.3(MTM1):c.1191T>G (p.Tyr397Ter)
|
rs587783761
|
|
NM_000252.3(MTM1):c.1205G>C (p.Gly402Ala)
|
rs587783762
|
|
NM_000252.3(MTM1):c.1228G>T (p.Glu410Ter)
|
rs17852824
|
|
NM_000252.3(MTM1):c.1232G>A (p.Trp411Ter)
|
rs587783763
|
|
NM_000252.3(MTM1):c.1244G>A (p.Gly415Glu)
|
rs587783766
|
|
NM_000252.3(MTM1):c.1260+1G>A
|
rs587783768
|
|
NM_000252.3(MTM1):c.1261-10A>G
|
rs397518445
|
|
NM_000252.3(MTM1):c.1261-1G>C
|
rs587783770
|
|
NM_000252.3(MTM1):c.1262G>A (p.Arg421Gln)
|
rs587783772
|
|
NM_000252.3(MTM1):c.1283_1286del (p.Asn428fs)
|
rs587783773
|
|
NM_000252.3(MTM1):c.1283del (p.Asn428fs)
|
rs797045712
|
|
NM_000252.3(MTM1):c.1306_1308del (p.Pro436del)
|
rs797045713
|
|
NM_000252.3(MTM1):c.1307del (p.Pro436fs)
|
rs587783775
|
|
NM_000252.3(MTM1):c.130dup (p.Ile44fs)
|
rs797045714
|
|
NM_000252.3(MTM1):c.1337G>A (p.Trp446Ter)
|
rs587783778
|
|
NM_000252.3(MTM1):c.1349_1353+4del
|
rs797045715
|
|
NM_000252.3(MTM1):c.1353+1G>A
|
rs587783779
|
|
NM_000252.3(MTM1):c.1353+2T>C
|
rs587783780
|
|
NM_000252.3(MTM1):c.1354-1G>A
|
rs587783782
|
|
NM_000252.3(MTM1):c.1367T>C (p.Phe456Ser)
|
rs587783783
|
|
NM_000252.3(MTM1):c.1376A>T (p.Asn459Ile)
|
rs587783785
|
|
NM_000252.3(MTM1):c.1378G>T (p.Glu460Ter)
|
rs587783786
|
|
NM_000252.3(MTM1):c.139_141del (p.Lys47del)
|
rs587783788
|
|
NM_000252.3(MTM1):c.1406A>G (p.His469Arg)
|
rs587783789
|
|
NM_000252.3(MTM1):c.141_144del
|
rs587783791
|
|
NM_000252.3(MTM1):c.1420C>T (p.Arg474Ter)
|
rs587783792
|
|
NM_000252.3(MTM1):c.1427G>T (p.Gly476Val)
|
rs587783793
|
|
NM_000252.3(MTM1):c.1433T>C (p.Phe478Ser)
|
rs587783794
|
|
NM_000252.3(MTM1):c.1456C>T (p.Arg486Ter)
|
rs587783795
|
|
NM_000252.3(MTM1):c.145G>A (p.Val49Ile)
|
rs587783796
|
|
NM_000252.3(MTM1):c.145G>T (p.Val49Phe)
|
rs587783796
|
|
NM_000252.3(MTM1):c.1465_1468del (p.Gln489fs)
|
rs587783797
|
|
NM_000252.3(MTM1):c.1467+1G>A
|
rs587783798
|
|
NM_000252.3(MTM1):c.1467+1G>T
|
rs587783798
|
|
NM_000252.3(MTM1):c.1467+2T>A
|
rs587783799
|
|
NM_000252.3(MTM1):c.1495T>C (p.Trp499Arg)
|
rs587783801
|
|
NM_000252.3(MTM1):c.1509del (p.Asn503fs)
|
rs587783802
|
|
NM_000252.3(MTM1):c.153_156del (p.Ile52fs)
|
rs587783803
|
|
NM_000252.3(MTM1):c.154del (p.Ile52fs)
|
rs587783804
|
|
NM_000252.3(MTM1):c.1558C>T (p.Arg520Ter)
|
rs587783805
|
|
NM_000252.3(MTM1):c.1792del (p.His598fs)
|
rs34119065
|
|
NM_000252.3(MTM1):c.197C>T (p.Thr66Ile)
|
rs2148434107
|
|
NM_000252.3(MTM1):c.205C>G (p.Arg69Gly)
|
rs132630304
|
|
NM_000252.3(MTM1):c.205C>T (p.Arg69Cys)
|
rs132630304
|
|
NM_000252.3(MTM1):c.208C>T (p.Leu70Phe)
|
rs587783809
|
|
NM_000252.3(MTM1):c.231+1G>A
|
rs587783810
|
|
NM_000252.3(MTM1):c.231+2T>G
|
rs587783811
|
|
NM_000252.3(MTM1):c.232-1G>A
|
rs587783812
|
|
NM_000252.3(MTM1):c.232-2A>C
|
rs587783813
|
|
NM_000252.3(MTM1):c.232-3C>A
|
rs587783814
|
|
NM_000252.3(MTM1):c.252del (p.Asp84fs)
|
rs587783815
|
|
NM_000252.3(MTM1):c.260T>C (p.Leu87Pro)
|
rs587783816
|
|
NM_000252.3(MTM1):c.2T>G (p.Met1Arg)
|
rs587783817
|
|
NM_000252.3(MTM1):c.301A>G (p.Ser101Gly)
|
rs587783818
|
|
NM_000252.3(MTM1):c.340A>T (p.Lys114Ter)
|
rs587783819
|
|
NM_000252.3(MTM1):c.342+1G>A
|
rs1557413092
|
|
NM_000252.3(MTM1):c.342_342+4del
|
rs797045717
|
|
NM_000252.3(MTM1):c.343-2A>G
|
rs587783821
|
|
NM_000252.3(MTM1):c.397_398del (p.Met133fs)
|
rs587783822
|
|
NM_000252.3(MTM1):c.3G>A (p.Met1Ile)
|
rs587783823
|
|
NM_000252.3(MTM1):c.402del (p.Phe134fs)
|
rs587783824
|
|
NM_000252.3(MTM1):c.419dup (p.Tyr140Ter)
|
rs797045718
|
|
NM_000252.3(MTM1):c.420C>G (p.Tyr140Ter)
|
rs587783825
|
|
NM_000252.3(MTM1):c.431del (p.Leu144fs)
|
rs587783826
|
|
NM_000252.3(MTM1):c.465del (p.Asn155fs)
|
rs1557413783
|
|
NM_000252.3(MTM1):c.469del (p.Glu157fs)
|
rs587783827
|
|
NM_000252.3(MTM1):c.514G>T (p.Glu172Ter)
|
rs587783828
|
|
NM_000252.3(MTM1):c.528+1G>T
|
rs587783830
|
|
NM_000252.3(MTM1):c.529-2A>G
|
rs587783831
|
|
NM_000252.3(MTM1):c.535C>T (p.Pro179Ser)
|
rs587783832
|
|
NM_000252.3(MTM1):c.539_545del (p.Asn180fs)
|
rs587783833
|
|
NM_000252.3(MTM1):c.549G>A (p.Trp183Ter)
|
rs587783834
|
|
NM_000252.3(MTM1):c.549dup (p.Arg184fs)
|
rs797045719
|
|
NM_000252.3(MTM1):c.550A>G (p.Arg184Gly)
|
rs587783835
|
|
NM_000252.3(MTM1):c.557C>T (p.Thr186Ile)
|
rs587783836
|
|
NM_000252.3(MTM1):c.566A>G (p.Asn189Ser)
|
rs132630302
|
|
NM_000252.3(MTM1):c.591_594del (p.Tyr198fs)
|
rs587783839
|
|
NM_000252.3(MTM1):c.611T>G (p.Val204Gly)
|
rs587783840
|
|
NM_000252.3(MTM1):c.614C>T (p.Pro205Leu)
|
rs587783841
|
|
NM_000252.3(MTM1):c.629A>G (p.Asp210Gly)
|
rs587783842
|
|
NM_000252.3(MTM1):c.63+1G>A
|
rs587783843
|
|
NM_000252.3(MTM1):c.637C>T (p.Leu213Phe)
|
rs587783845
|
|
NM_000252.3(MTM1):c.64-1G>A
|
rs587783846
|
|
NM_000252.3(MTM1):c.664C>T (p.Arg222Ter)
|
rs587783847
|
|
NM_000252.3(MTM1):c.670C>T (p.Arg224Ter)
|
rs132630306
|
|
NM_000252.3(MTM1):c.678+1G>A
|
rs587783849
|
|
NM_000252.3(MTM1):c.679G>A (p.Val227Met)
|
rs587783850
|
|
NM_000252.3(MTM1):c.683T>C (p.Leu228Pro)
|
rs587783851
|
|
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg)
|
rs398123274
|
|
NM_000252.3(MTM1):c.70C>T (p.Arg24Ter)
|
rs398123275
|
|
NM_000252.3(MTM1):c.721C>T (p.Arg241Cys)
|
rs132630305
|
|
NM_000252.3(MTM1):c.757C>T (p.Arg253Ter)
|
rs587783854
|
|
NM_000252.3(MTM1):c.779A>C (p.Tyr260Ser)
|
rs587783855
|
|
NM_000252.3(MTM1):c.791T>G (p.Ile264Ser)
|
rs587783856
|
|
NM_000252.3(MTM1):c.808_811del (p.Gln270fs)
|
rs797045720
|
|
NM_000252.3(MTM1):c.814del (p.Ser272fs)
|
rs1603192748
|
|
NM_000252.3(MTM1):c.85C>T (p.Arg29Ter)
|
rs587783857
|
|
NM_000252.3(MTM1):c.867+1G>A
|
rs587783858
|
|
NM_000252.3(MTM1):c.867_867+1dup
|
rs797045721
|
|
NM_000252.3(MTM1):c.888_889del (p.Glu296_Ser297insTer)
|
rs587783859
|
|
NM_000252.3(MTM1):c.912del (p.Glu305fs)
|
rs587783860
|
|
NM_000252.3(MTM1):c.949dup (p.Met317fs)
|
rs797045722
|
|
NM_000252.3(MTM1):c.958T>C (p.Ser320Pro)
|
rs587783863
|
|
NM_000252.3(MTM1):c.961_962del (p.Leu321fs)
|
rs587783864
|
|
NM_000252.3(MTM1):c.969del (p.Lys323_Val324insTer)
|
rs587783865
|
|
NM_000252.3(MTM1):c.969dup (p.Val324fs)
|
rs587783865
|
|
NM_000252.3(MTM1):c.96dup (p.Glu33Ter)
|
rs797045724
|
|
NM_000271.5(NPC1):c.3246-2A>G
|
rs886042268
|
|
NM_000273.3(GPR143):c.256_257delinsA (p.Val86fs)
|
rs2146701042
|
|
NM_000273.3(GPR143):c.886-2A>T
|
rs2146684328
|
|
NM_000275.2(OCA2):c.647-?_807+?del
|
|
|
NM_000275.2(OCA2):c.647-?_890+?del
|
|
|
NM_000275.3(OCA2):c.121_128del (p.Gly41fs)
|
rs1555392037
|
|
NM_000275.3(OCA2):c.122del (p.Gly41fs)
|
rs1407174563
|
|
NM_000275.3(OCA2):c.171del (p.Gln58fs)
|
rs1555391997
|
|
NM_000275.3(OCA2):c.1808del (p.Asn603fs)
|
rs1476192724
|
|
NM_000275.3(OCA2):c.2080-1G>A
|
rs1555422232
|
|
NM_000275.3(OCA2):c.2324G>A (p.Gly775Asp)
|
rs987780496
|
|
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal)
|
rs797044784
|
|
NM_000275.3(OCA2):c.820_821inv (p.Trp274Gln)
|
|
|
NM_000288.4(PEX7):c.357G>A (p.Trp119Ter)
|
rs1554331461
|
|
NM_000288.4(PEX7):c.538del (p.Thr179_Leu180insTer)
|
rs1554333636
|
|
NM_000297.4(PKD2):c.2159dup (p.Asn720fs)
|
rs757757289
|
|
NM_000311.5(PRNP):c.305C>T (p.Pro102Leu)
|
rs74315401
|
|
NM_000314.8(PTEN):c.1016del (p.Pro339fs)
|
rs1554825643
|
|
NM_000314.8(PTEN):c.1026+1G>A
|
rs786201041
|
|
NM_000314.8(PTEN):c.900del (p.Ile300fs)
|
rs797045904
|
|
NM_000320.3(QDPR):c.447del (p.Tyr150fs)
|
rs2108987721
|
|
NM_000342.4(SLC4A1):c.1766G>A (p.Arg589His)
|
rs121912744
|
|
NM_000348.4(SRD5A2):c.282-2A>G
|
rs1340425455
|
|
NM_000348.4(SRD5A2):c.682G>A (p.Ala228Thr)
|
rs121434249
|
|
NM_000352.3:c.85_1011+8del
|
|
|
NM_000352.6(ABCC8):c.1011+1G>T
|
rs2133673996
|
|
NM_000352.6(ABCC8):c.1347_1348del (p.Ile450fs)
|
rs1554933565
|
|
NM_000352.6(ABCC8):c.1752del (p.His584fs)
|
rs1554926539
|
|
NM_000352.6(ABCC8):c.1773C>G (p.Phe591Leu)
|
rs72559726
|
|
NM_000352.6(ABCC8):c.1879del (p.His627fs)
|
rs764613146
|
|
NM_000352.6(ABCC8):c.2117-1G>A
|
rs797045207
|
|
NM_000352.6(ABCC8):c.2295_2307delinsAA (p.Arg766fs)
|
rs1554917411
|
|
NM_000352.6(ABCC8):c.2473C>T (p.Arg825Trp)
|
rs779736828
|
|
NM_000352.6(ABCC8):c.3509del (p.Leu1170fs)
|
rs587783169
|
|
NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln)
|
rs193922400
|
|
NM_000352.6(ABCC8):c.3593C>T (p.Pro1198Leu)
|
rs1554909277
|
|
NM_000352.6(ABCC8):c.4119+1G>A
|
rs797045211
|
|
NM_000352.6(ABCC8):c.4132G>A (p.Gly1378Ser)
|
rs925231098
|
|
NM_000352.6(ABCC8):c.4135C>T (p.Arg1379Cys)
|
rs137852673
|
|
NM_000352.6(ABCC8):c.4136G>T (p.Arg1379Leu)
|
rs193922401
|
|
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)
|
rs151344624
|
|
NM_000352.6(ABCC8):c.4174T>G (p.Phe1392Val)
|
rs587783171
|
|
NM_000352.6(ABCC8):c.4275_4291del (p.Asp1427fs)
|
rs1554904904
|
|
NM_000352.6(ABCC8):c.4307G>A (p.Arg1436Gln)
|
rs387906407
|
|
NM_000352.6(ABCC8):c.4353G>A (p.Trp1451Ter)
|
rs1057516404
|
|
NM_000352.6(ABCC8):c.4450G>A (p.Gly1484Arg)
|
rs1554904102
|
|
NM_000352.6(ABCC8):c.4515C>G (p.Asp1505Glu)
|
rs751591418
|
|
NM_000352.6(ABCC8):c.4516G>A (p.Glu1506Lys)
|
rs137852671
|
|
NM_000352.6(ABCC8):c.4608+1G>A
|
rs2133392952
|
|
NM_000352.6(ABCC8):c.4613G>A (p.Arg1538Gln)
|
rs1564869850
|
|
NM_000352.6(ABCC8):c.563A>G (p.Asn188Ser)
|
rs797045213
|
|
NM_000352.6(ABCC8):c.695G>A (p.Trp232Ter)
|
rs1564977373
|
|
NM_000372.5(TYR):c.221_222del (p.Val74fs)
|
rs767003400
|
|
NM_000372.5(TYR):c.572del (p.Gly191fs)
|
rs61754361
|
|
NM_000372.5(TYR):c.616G>A (p.Ala206Thr)
|
rs28940880
|
|
NM_000372.5(TYR):c.661G>A (p.Glu221Lys)
|
rs758115945
|
|
NM_000372.5(TYR):c.753C>A (p.Tyr251Ter)
|
rs765329261
|
|
NM_000372.5(TYR):c.820-3C>G
|
rs61754371
|
|
NM_000372.5(TYR):c.895C>A (p.Arg299Ser)
|
rs61754374
|
|
NM_000372.5(TYR):c.929dup (p.Arg311fs)
|
rs281865527
|
|
NM_000372.5(TYR):c.982G>A (p.Glu328Lys)
|
rs61754380
|
|
NM_000377.3(WAS):c.192G>A (p.Trp64Ter)
|
rs2147262855
|
|
NM_000377.3(WAS):c.881T>C (p.Ile294Thr)
|
rs387906717
|
|
NM_000383.4(AIRE):c.205_208dup (p.Asp70fs)
|
rs886041124
|
|
NM_000384.3(APOB):c.10848del (p.Gly3617fs)
|
rs982371659
|
|
NM_000388.4(CASR):c.1810G>A (p.Glu604Lys)
|
rs104893712
|
|
NM_000388.4(CASR):c.452C>T (p.Thr151Met)
|
rs104893694
|
|
NM_000407.5(GP1BB):c.1A>G (p.Met1Val)
|
rs1389191920
|
|
NM_000407.5(GP1BB):c.448dup (p.Ala150fs)
|
rs1360071443
|
|
NM_000417.3(IL2RA):c.301C>T (p.Gln101Ter)
|
rs886041037
|
|
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp)
|
rs766503255
|
|
NM_000424.4(KRT5):c.991C>T (p.Arg331Cys)
|
rs61297109
|
|
NM_000430.4(PAFAH1B1):c.1002+1G>A
|
rs113994203
|
|
NM_000430.4(PAFAH1B1):c.1002+5G>A
|
rs587784235
|
|
NM_000430.4(PAFAH1B1):c.1003-30_1032del
|
rs1555527743
|
|
NM_000430.4(PAFAH1B1):c.1009C>T (p.His337Tyr)
|
rs587784236
|
|
NM_000430.4(PAFAH1B1):c.1018dup (p.Trp340fs)
|
rs797045855
|
|
NM_000430.4(PAFAH1B1):c.1024_1031del (p.Arg342fs)
|
rs587784237
|
|
NM_000430.4(PAFAH1B1):c.1050del (p.Lys351fs)
|
rs113994200
|
|
NM_000430.4(PAFAH1B1):c.1050dup (p.Lys351fs)
|
rs113994200
|
|
NM_000430.4(PAFAH1B1):c.1063del (p.Ser355fs)
|
rs587784238
|
|
NM_000430.4(PAFAH1B1):c.1064G>A (p.Ser355Asn)
|
rs587784239
|
|
NM_000430.4(PAFAH1B1):c.1100del (p.Tyr367fs)
|
rs587784240
|
|
NM_000430.4(PAFAH1B1):c.1111C>T (p.Arg371Ter)
|
rs587784241
|
|
NM_000430.4(PAFAH1B1):c.1135C>T (p.His379Tyr)
|
rs587784242
|
|
NM_000430.4(PAFAH1B1):c.1159+1G>A
|
rs1057520515
|
|
NM_000430.4(PAFAH1B1):c.1159+2T>A
|
rs587784243
|
|
NM_000430.4(PAFAH1B1):c.1159G>T (p.Asp387Tyr)
|
rs587784244
|
|
NM_000430.4(PAFAH1B1):c.1165C>T (p.His389Tyr)
|
rs587784245
|
|
NM_000430.4(PAFAH1B1):c.1196G>C (p.Ser399Thr)
|
rs587784248
|
|
NM_000430.4(PAFAH1B1):c.1201G>C (p.Asp401His)
|
rs587784249
|
|
NM_000430.4(PAFAH1B1):c.1233A>C (p.Ter411Cys)
|
rs587784251
|
|
NM_000430.4(PAFAH1B1):c.136_137del (p.Lys46fs)
|
rs587784252
|
|
NM_000430.4(PAFAH1B1):c.152del (p.Leu51fs)
|
rs587784253
|
|
NM_000430.4(PAFAH1B1):c.162del (p.Lys54fs)
|
rs113994198
|
|
NM_000430.4(PAFAH1B1):c.162dup (p.Trp55fs)
|
rs113994198
|
|
NM_000430.4(PAFAH1B1):c.163T>A (p.Trp55Arg)
|
rs587784254
|
|
NM_000430.4(PAFAH1B1):c.164G>A (p.Trp55Ter)
|
rs757993270
|
|
NM_000430.4(PAFAH1B1):c.190_192+5dup
|
rs797045857
|
|
NM_000430.4(PAFAH1B1):c.192+1G>A
|
rs587784256
|
|
NM_000430.4(PAFAH1B1):c.192+1G>T
|
rs587784256
|
|
NM_000430.4(PAFAH1B1):c.192G>C (p.Lys64Asn)
|
rs587784257
|
|
NM_000430.4(PAFAH1B1):c.22C>T (p.Arg8Ter)
|
rs121434489
|
|
NM_000430.4(PAFAH1B1):c.247_250dup (p.Pro84fs)
|
rs2151660952
|
|
NM_000430.4(PAFAH1B1):c.265C>T (p.Arg89Ter)
|
rs587784258
|
|
NM_000430.4(PAFAH1B1):c.288_289dup (p.Arg97fs)
|
rs797045858
|
|
NM_000430.4(PAFAH1B1):c.305dup (p.Tyr102Ter)
|
rs587784259
|
|
NM_000430.4(PAFAH1B1):c.33-3C>T
|
rs587784260
|
|
NM_000430.4(PAFAH1B1):c.347dup (p.His117fs)
|
rs797045859
|
|
NM_000430.4(PAFAH1B1):c.371T>A (p.Val124Asp)
|
rs587784261
|
|
NM_000430.4(PAFAH1B1):c.37C>T (p.Arg13Ter)
|
rs587784262
|
|
NM_000430.4(PAFAH1B1):c.386A>T (p.Asp129Val)
|
rs587784263
|
|
NM_000430.4(PAFAH1B1):c.399+1G>A
|
rs587784264
|
|
NM_000430.4(PAFAH1B1):c.3G>A (p.Met1Ile)
|
rs587784265
|
|
NM_000430.4(PAFAH1B1):c.405G>A (p.Trp135Ter)
|
rs587784266
|
|
NM_000430.4(PAFAH1B1):c.430C>T (p.Arg144Ter)
|
rs587784267
|
|
NM_000430.4(PAFAH1B1):c.441dup (p.Gly148fs)
|
rs797045861
|
|
NM_000430.4(PAFAH1B1):c.455_456del (p.Ser152fs)
|
rs587784268
|
|
NM_000430.4(PAFAH1B1):c.460C>T (p.Gln154Ter)
|
rs587784269
|
|
NM_000430.4(PAFAH1B1):c.484G>A (p.Gly162Ser)
|
rs121434487
|
|
NM_000430.4(PAFAH1B1):c.514dup (p.Met172fs)
|
rs1555526718
|
|
NM_000430.4(PAFAH1B1):c.524_528del (p.Lys175fs)
|
rs587784270
|
|
NM_000430.4(PAFAH1B1):c.537del (p.Gln180fs)
|
rs587784271
|
|
NM_000430.4(PAFAH1B1):c.537dup (p.Gln180fs)
|
rs587784271
|
|
NM_000430.4(PAFAH1B1):c.568+1G>A
|
rs1555526733
|
|
NM_000430.4(PAFAH1B1):c.569-10T>C
|
rs113994202
|
|
NM_000430.4(PAFAH1B1):c.56T>G (p.Leu19Arg)
|
rs587784272
|
|
NM_000430.4(PAFAH1B1):c.632C>G (p.Ser211Ter)
|
rs587784273
|
|
NM_000430.4(PAFAH1B1):c.644_651del (p.Thr215fs)
|
rs587784274
|
|
NM_000430.4(PAFAH1B1):c.647_648del (p.Ile216fs)
|
rs587784275
|
|
NM_000430.4(PAFAH1B1):c.657G>A (p.Trp219Ter)
|
rs587784276
|
|
NM_000430.4(PAFAH1B1):c.658del (p.Glu220fs)
|
rs587784277
|
|
NM_000430.4(PAFAH1B1):c.664C>T (p.Gln222Ter)
|
rs587784278
|
|
NM_000430.4(PAFAH1B1):c.667dup (p.Thr223fs)
|
rs797045864
|
|
NM_000430.4(PAFAH1B1):c.671G>A (p.Gly224Asp)
|
rs587784281
|
|
NM_000430.4(PAFAH1B1):c.675C>G (p.Tyr225Ter)
|
rs587784282
|
|
NM_000430.4(PAFAH1B1):c.703_704del (p.Glu235fs)
|
rs797045865
|
|
NM_000430.4(PAFAH1B1):c.708G>A (p.Trp236Ter)
|
rs2151667800
|
|
NM_000430.4(PAFAH1B1):c.716dup (p.Met239fs)
|
rs587784284
|
|
NM_000430.4(PAFAH1B1):c.71_72dup (p.Glu25fs)
|
rs797045866
|
|
NM_000430.4(PAFAH1B1):c.728_732dup (p.Asp245fs)
|
rs797045867
|
|
NM_000430.4(PAFAH1B1):c.72T>G (p.Tyr24Ter)
|
rs587784285
|
|
NM_000430.4(PAFAH1B1):c.730C>T (p.Gln244Ter)
|
rs587784286
|
|
NM_000430.4(PAFAH1B1):c.770_772delinsTGACCCA (p.Thr257fs)
|
rs797045868
|
|
NM_000430.4(PAFAH1B1):c.773_774del (p.Val258fs)
|
rs797045869
|
|
NM_000430.4(PAFAH1B1):c.817C>T (p.Arg273Ter)
|
rs121434483
|
|
NM_000430.4(PAFAH1B1):c.829dup (p.His277fs)
|
rs797045870
|
|
NM_000430.4(PAFAH1B1):c.841T>C (p.Cys281Arg)
|
rs587784288
|
|
NM_000430.4(PAFAH1B1):c.84T>G (p.Tyr28Ter)
|
rs369259961
|
|
NM_000430.4(PAFAH1B1):c.851G>A (p.Trp284Ter)
|
rs587784289
|
|
NM_000430.4(PAFAH1B1):c.900+1G>A
|
rs587784290
|
|
NM_000430.4(PAFAH1B1):c.910del (p.Ser304fs)
|
rs587784292
|
|
NM_000430.4(PAFAH1B1):c.911del (p.Ser304fs)
|
rs797045871
|
|
NM_000430.4(PAFAH1B1):c.933dup (p.Leu312fs)
|
rs797045872
|
|
NM_000434.4(NEU1):c.114_115del (p.Leu40fs)
|
rs754405067
|
|
NM_000458.4(HNF1B):c.807_809+3del
|
rs2147552486
|
|
NM_000463.3(UGT1A1):c.1043del (p.Asn348fs)
|
rs745655794
|
|
NM_000463.3(UGT1A1):c.1084+1G>T
|
rs587784535
|
|
NM_000463.3(UGT1A1):c.222C>A (p.Tyr74Ter)
|
rs72551340
|
|
NM_000463.3(UGT1A1):c.238_239insGTAC (p.Pro80fs)
|
rs797046090
|
|
NM_000463.3(UGT1A1):c.269_270del (p.Glu90fs)
|
rs2125985854
|
|
NM_000463.3(UGT1A1):c.530G>A (p.Cys177Tyr)
|
rs1373930486
|
|
NM_000463.3(UGT1A1):c.722_723del (p.Glu241fs)
|
rs797046091
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
NM_000474.4(TWIST1):c.108del (p.Arg37fs)
|
rs2115397200
|
|
NM_000487.6(ARSA):c.937C>T (p.Arg313Ter)
|
rs551472773
|
|
NM_000489.6(ATRX):c.4620TGAAGA[1] (p.1540DE[1])
|
rs797045406
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000516.7(GNAS):c.1012_1013insT (p.Lys338fs)
|
rs2146300173
|
|
NM_000516.7(GNAS):c.283del (p.Ile95fs)
|
rs2146178007
|
|
NM_000516.7(GNAS):c.348dup (p.Val117fs)
|
rs2090848106
|
|
NM_000516.7(GNAS):c.55C>T (p.Gln19Ter)
|
rs2089380075
|
|
NM_000525.4(KCNJ11):c.175G>A (p.Val59Met)
|
rs80356616
|
|
NM_000525.4(KCNJ11):c.331_332del (p.Val111fs)
|
rs2133380463
|
|
NM_000525.4(KCNJ11):c.405dup (p.Arg136fs)
|
rs557160758
|
|
NM_000525.4(KCNJ11):c.521C>G (p.Ala174Gly)
|
rs587783670
|
|
NM_000525.4(KCNJ11):c.601C>T (p.Arg201Cys)
|
rs80356625
|
|
NM_000525.4(KCNJ11):c.602G>A (p.Arg201His)
|
rs80356624
|
|
NM_000525.4(KCNJ11):c.679G>A (p.Glu227Lys)
|
rs587783672
|
|
NM_000525.4(KCNJ11):c.685G>A (p.Glu229Lys)
|
rs587783673
|
|
NM_000525.4(KCNJ11):c.8C>G (p.Ser3Cys)
|
rs587783674
|
|
NM_000525.4(KCNJ11):c.964G>A (p.Glu322Lys)
|
rs193929355
|
|
NM_000525.4(KCNJ11):c.988T>C (p.Tyr330His)
|
rs587783675
|
|
NM_000525.4(KCNJ11):c.989A>G (p.Tyr330Cys)
|
rs193929356
|
|
NM_000528.4(MAN2B1):c.1048dup (p.His350fs)
|
rs2145262260
|
|
NM_000535.7(PMS2):c.2117del (p.Lys706fs)
|
rs587782704
|
|
NM_000535.7(PMS2):c.2T>A (p.Met1Lys)
|
rs587780059
|
|
NM_000540.3(RYR1):c.10725_10726del (p.Tyr3576fs)
|
rs1555790936
|
|
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His)
|
rs63749869
|
|
NM_000540.3(RYR1):c.14842C>A (p.Gln4948Lys)
|
rs1555805633
|
|
NM_000540.3(RYR1):c.1878_1882del (p.Pro626_Gly627insTer)
|
rs797045931
|
|
NM_000540.3(RYR1):c.2505del (p.Pro836fs)
|
rs797045932
|
|
NM_000540.3(RYR1):c.3381+1G>A
|
rs797045934
|
|
NM_000540.3(RYR1):c.4094dup (p.Glu1366fs)
|
rs587784375
|
|
NM_000540.3(RYR1):c.6127+1G>A
|
rs1283302989
|
|
NM_000540.3(RYR1):c.784G>T (p.Glu262Ter)
|
rs1381186128
|
|
NM_000540.3(RYR1):c.8724C>A (p.Tyr2908Ter)
|
rs797045935
|
|
NM_000543.5(SMPD1):c.1327C>T (p.Arg443Ter)
|
rs120074127
|
|
NM_000545.8(HNF1A):c.107_117del (p.Tyr36fs)
|
rs2135819653
|
|
NM_000545.8(HNF1A):c.1137del (p.Val380fs)
|
rs1555212248
|
|
NM_000545.8(HNF1A):c.1147_1157del (p.Leu383fs)
|
rs2135845949
|
|
NM_000545.8(HNF1A):c.1359del (p.Ser454fs)
|
rs1555212359
|
|
NM_000545.8(HNF1A):c.326+1G>T
|
rs2135820424
|
|
NM_000545.8(HNF1A):c.472A>T (p.Lys158Ter)
|
rs2135832792
|
|
NM_000545.8(HNF1A):c.526+1G>A
|
rs1364708195
|
|
NM_000545.8(HNF1A):c.526+1G>C
|
rs1364708195
|
|
NM_000545.8(HNF1A):c.526C>T (p.Gln176Ter)
|
rs754728827
|
|
NM_000545.8(HNF1A):c.607C>T (p.Arg203Cys)
|
rs1180119907
|
|
NM_000545.8(HNF1A):c.685C>T (p.Arg229Ter)
|
rs769086289
|
|
NM_000545.8(HNF1A):c.811C>T (p.Arg271Trp)
|
rs886039386
|
|
NM_000545.8(HNF1A):c.815G>A (p.Arg272His)
|
rs137853238
|
|
NM_000545.8(HNF1A):c.864del (p.Pro291fs)
|
rs762703502
|
|
NM_000545.8(HNF1A):c.872dup (p.Gly292fs)
|
rs587776825
|
|
NM_000546.5(TP53):c.2588dup
|
rs1555523630
|
|
NM_000546.6(TP53):c.586C>T (p.Arg196Ter)
|
rs397516435
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000548.5(TSC2):c.4952A>G (p.Asn1651Ser)
|
rs45517382
|
|
NM_000548.5(TSC2):c.911G>A (p.Trp304Ter)
|
rs45517140
|
|
NM_000550.3(TYRP1):c.1103del (p.Lys368fs)
|
rs387906560
|
|
NM_000551.4(VHL):c.482G>A (p.Arg161Gln)
|
rs730882035
|
|
NM_000702.4(ATP1A2):c.1639del (p.Glu547fs)
|
rs1651730901
|
|
NM_000939.4(POMC):c.133-2A>C
|
rs1553400259
|
|
NM_000939.4(POMC):c.34del (p.Leu12fs)
|
rs1671498215
|
|
NM_001005361.3(DNM2):c.1102G>A (p.Glu368Lys)
|
rs121909092
|
|
NM_001005361.3(DNM2):c.1106G>A (p.Arg369Gln)
|
rs121909089
|
|
NM_001005361.3(DNM2):c.1393C>T (p.Arg465Trp)
|
rs121909091
|
|
NM_001005361.3(DNM2):c.1565G>A (p.Arg522His)
|
rs587783595
|
|
NM_001005361.3(DNM2):c.1856C>T (p.Ser619Leu)
|
rs121909095
|
|
NM_001005361.3(DNM2):c.1862T>C (p.Leu621Pro)
|
rs587783597
|
|
NM_001008537.3(NEXMIF):c.1597del (p.Arg533fs)
|
rs1556016632
|
|
NM_001008537.3(NEXMIF):c.2772_2773insTTTC (p.Glu925fs)
|
rs797045646
|
|
NM_001009944.3(PKD1):c.10167+25_10167+43del
|
rs1197421698
|
|
NM_001017420.3(ESCO2):c.760del (p.Thr254fs)
|
rs80359852
|
|
NM_001017420.3(ESCO2):c.894delinsTTTTAT (p.Glu298fs)
|
rs797045565
|
|
NM_001017420.3(ESCO2):c.911dup (p.Asn304fs)
|
rs797045566
|
|
NM_001018115.3(FANCD2):c.1201del (p.Arg401fs)
|
rs1553608812
|
|
NM_001018115.3(FANCD2):c.3385C>T (p.Gln1129Ter)
|
rs2125072527
|
|
NM_001024630.4(RUNX2):c.200_201insACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAG (p.Glu72fs)
|
rs2150362292
|
|
NM_001029.5(RPS26):c.55C>T (p.Gln19Ter)
|
rs797045919
|
|
NM_001029896.2(WDR45):c.501del (p.Ser168fs)
|
rs2147815668
|
|
NM_001029896.2(WDR45):c.516+1G>T
|
rs797046102
|
|
NM_001029896.2(WDR45):c.827+2_827+3del
|
rs797046103
|
|
NM_001032221.6(STXBP1):c.1029+1G>C
|
rs727504173
|
|
NM_001032221.6(STXBP1):c.704G>A (p.Arg235Gln)
|
rs794727970
|
|
NM_001032221.6(STXBP1):c.754_755del (p.Met252fs)
|
rs587784454
|
|
NM_001032221.6(STXBP1):c.87+2T>C
|
rs1554775960
|
|
NM_001040142.2(SCN2A):c.11C>G (p.Ser4Ter)
|
rs1553564144
|
|
NM_001040142.2(SCN2A):c.2566C>T (p.Arg856Ter)
|
rs1553579225
|
|
NM_001040142.2(SCN2A):c.3374del (p.Glu1125fs)
|
rs587780450
|
|
NM_001040142.2(SCN2A):c.3631G>A (p.Glu1211Lys)
|
rs387906684
|
|
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val)
|
rs387906686
|
|
NM_001040716.2(PC):c.1357C>T (p.Arg453Ter)
|
rs768514713
|
|
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter)
|
rs199474742
|
|
NM_001042492.3(NF1):c.5335del (p.Phe1778_Leu1779insTer)
|
|
|
NM_001042492.3(NF1):c.843_844delinsTT (p.Gln282Ter)
|
rs2143786391
|
|
NM_001048174.2(MUTYH):c.1063del (p.Ala357fs)
|
rs587778536
|
|
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del)
|
rs587778541
|
|
NM_001069.3(TUBB2A):c.1033A>T (p.Ile345Phe)
|
rs797046074
|
|
NM_001069.3(TUBB2A):c.741C>G (p.Asn247Lys)
|
rs886037663
|
|
NM_001070.5(TUBG1):c.1021C>T (p.Arg341Trp)
|
rs1057518249
|
|
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)
|
rs398124245
|
|
NM_001080510.5(METTL23):c.397C>T (p.Gln133Ter)
|
rs587777646
|
|
NM_001080522.2(CC2D2A):c.3289delG
|
rs386833751
|
|
NM_001082538.3(TCTN1):c.843+1del
|
rs797046039
|
|
NM_001083116.3(PRF1):c.943_949del (p.Leu315fs)
|
rs2132476060
|
|
NM_001083961.1(WDR62):c.1959_1960del
|
rs1972523297
|
|
NM_001083961.2(WDR62):c.2084_2090dup (p.Ser698fs)
|
rs587784546
|
|
NM_001083961.2(WDR62):c.2655C>G (p.Tyr885Ter)
|
rs587784549
|
|
NM_001083961.2(WDR62):c.3012_3034dup (p.Pro1012fs)
|
rs1555723585
|
|
NM_001083961.2(WDR62):c.332+1G>A
|
rs587784553
|
|
NM_001083962.2(TCF4):c.1146+1G>A
|
rs587784458
|
|
NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter)
|
rs121909122
|
|
NM_001083962.2(TCF4):c.1411C>T (p.Gln471Ter)
|
rs797046033
|
|
NM_001083962.2(TCF4):c.1498G>T (p.Gly500Ter)
|
rs587784459
|
|
NM_001083962.2(TCF4):c.1663G>T (p.Glu555Ter)
|
rs1555711142
|
|
NM_001083962.2(TCF4):c.1733G>C (p.Arg578Pro)
|
rs121909123
|
|
NM_001083962.2(TCF4):c.1834del (p.His612fs)
|
rs1555710069
|
|
NM_001083962.2(TCF4):c.415del (p.Leu139fs)
|
rs587784463
|
|
NM_001083962.2(TCF4):c.469C>T (p.Arg157Ter)
|
rs587784464
|
|
NM_001083962.2(TCF4):c.652C>T (p.Gln218Ter)
|
rs1064796853
|
|
NM_001083962.2(TCF4):c.655+1G>A
|
rs587784465
|
|
NM_001083962.2(TCF4):c.655+1_655+2dup
|
rs797046036
|
|
NM_001083962.2(TCF4):c.656-1G>C
|
rs587784466
|
|
NM_001083962.2(TCF4):c.791del (p.Ser264fs)
|
rs587784468
|
|
NM_001083962.2(TCF4):c.991-2A>G
|
rs587784470
|
|
NM_001099274.3(TINF2):c.844C>T (p.Arg282Cys)
|
rs121918545
|
|
NM_001099274.3(TINF2):c.845G>A (p.Arg282His)
|
rs121918544
|
|
NM_001100.4(ACTA1):c.515C>A (p.Ala172Glu)
|
rs587780272
|
|
NM_001100.4(ACTA1):c.809G>A (p.Gly270Asp)
|
rs1553255362
|
|
NM_001101.5(ACTB):c.547C>T (p.Arg183Trp)
|
rs104894003
|
|
NM_001101.5(ACTB):c.587G>A (p.Arg196His)
|
rs281875334
|
|
NM_001101426.4(CRPPA):c.165dup (p.Cys56fs)
|
rs1554371369
|
|
NM_001104631.2(PDE4D):c.1762A>G (p.Met588Val)
|
rs1554033934
|
|
NM_001109809.5(ZFP57):c.194_197dup (p.Val67fs)
|
rs2127547308
|
|
NM_001109809.5(ZFP57):c.458del (p.Leu153fs)
|
rs748137597
|
|
NM_001110556.2(FLNA):c.6245del (p.Leu2082fs)
|
rs2148104758
|
|
NM_001110792.1:c.384_1164del
|
|
|
NM_001110792.2(MECP2):c.1043_1230del (p.Leu348fs)
|
rs1557135418
|
|
NM_001110792.2(MECP2):c.1102_1202del (p.Ser369fs)
|
rs1557135664
|
|
NM_001110792.2(MECP2):c.1154C>G (p.Ser385Ter)
|
rs267608569
|
|
NM_001110792.2(MECP2):c.1188_1231del (p.Pro397fs)
|
rs267608372
|
|
NM_001110792.2(MECP2):c.1193_1233del (p.Leu398fs)
|
rs267608327
|
|
NM_001110792.2(MECP2):c.1193_1236del (p.Leu398fs)
|
rs63749748
|
|
NM_001110792.2(MECP2):c.1194_*117del (p.Pro399fs)
|
rs1557134720
|
|
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.1206_1243del (p.Pro402_Pro403insTer)
|
rs267608609
|
|
NM_001110792.2(MECP2):c.1216G>T (p.Glu406Ter)
|
rs63094662
|
|
NM_001110792.2(MECP2):c.1250_1266del (p.Pro417fs)
|
rs267608615
|
|
NM_001110792.2(MECP2):c.1393C>T (p.Arg465Ter)
|
rs61753979
|
|
NM_001110792.2(MECP2):c.1451_1452del (p.Glu484fs)
|
rs267608634
|
|
NM_001110792.2(MECP2):c.182C>G (p.Ser61Ter)
|
rs61754432
|
|
NM_001110792.2(MECP2):c.230C>G (p.Ser77Ter)
|
rs61754437
|
|
NM_001110792.2(MECP2):c.251del (p.Pro84fs)
|
rs61754441
|
|
NM_001110792.2(MECP2):c.30_31del (p.Ser10fs)
|
rs797045693
|
|
NM_001110792.2(MECP2):c.337C>T (p.Pro113Ser)
|
rs61754452
|
|
NM_001110792.2(MECP2):c.338C>G (p.Pro113Arg)
|
rs61754453
|
|
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.459C>G (p.Tyr153Ter)
|
rs61748396
|
|
NM_001110792.2(MECP2):c.491C>G (p.Pro164Arg)
|
rs61748404
|
|
NM_001110792.2(MECP2):c.504C>G (p.Asp168Glu)
|
rs61748408
|
|
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.701_707dup (p.Met236fs)
|
rs797045695
|
|
NM_001110792.2(MECP2):c.709C>A (p.Pro237Thr)
|
rs267608513
|
|
NM_001110792.2(MECP2):c.722C>A (p.Ser241Ter)
|
rs61749739
|
|
NM_001110792.2(MECP2):c.725_792del (p.Pro242fs)
|
rs1557136493
|
|
NM_001110792.2(MECP2):c.766C>T (p.Gln256Ter)
|
rs61749747
|
|
NM_001110792.2(MECP2):c.772_779delinsGTG (p.Met258fs)
|
rs267608520
|
|
NM_001110792.2(MECP2):c.788_789dup (p.Gly264fs)
|
rs61749751
|
|
NM_001110792.2(MECP2):c.791del (p.Gly264fs)
|
rs61750232
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001110792.2(MECP2):c.83_93del (p.Gln28fs)
|
rs797045694
|
|
NM_001110792.2(MECP2):c.842del (p.Gly281fs)
|
rs61750241
|
|
NM_001110792.2(MECP2):c.844C>T (p.Arg282Ter)
|
rs61750240
|
|
NM_001110792.2(MECP2):c.870_975del (p.Ala291fs)
|
rs1557136146
|
|
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter)
|
rs61751362
|
|
NM_001110792.2(MECP2):c.92dup (p.Leu33fs)
|
rs267608417
|
|
NM_001110792.2(MECP2):c.934_1202del (p.Val312fs)
|
rs1557135666
|
|
NM_001110792.2(MECP2):c.952C>T (p.Arg318Cys)
|
rs28935468
|
|
NM_001110792.2(MECP2):c.953G>A (p.Arg318His)
|
rs61751443
|
|
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp)
|
rs61751444
|
|
NM_001111125.3(IQSEC2):c.1626_1630del (p.Pro543fs)
|
rs1556863435
|
|
NM_001111125.3(IQSEC2):c.2776C>T (p.Arg926Ter)
|
rs1057520858
|
|
NM_001111125.3(IQSEC2):c.3163C>T (p.Arg1055Ter)
|
rs2147027403
|
|
NM_001114753.3(ENG):c.1122dup (p.Glu375fs)
|
rs2131885756
|
|
NM_001114753.3(ENG):c.1139_1142dup (p.Lys381fs)
|
rs2131879366
|
|
NM_001114753.3(ENG):c.1429-1G>A
|
rs2131876244
|
|
NM_001114753.3(ENG):c.662T>C (p.Leu221Pro)
|
rs1554810378
|
|
NM_001122630.2(CDKN1C):c.661C>T (p.Gln221Ter)
|
rs797045445
|
|
NM_001122955.4(BSCL2):c.1015C>T (p.Arg339Ter)
|
rs137852974
|
|
NM_001122955.4(BSCL2):c.942dup (p.Leu315fs)
|
rs1554983076
|
|
NM_001122955.4(BSCL2):c.974dup (p.Ile326fs)
|
rs749890533
|
|
NM_001127178.3(PIGG):c.342dup (p.Thr115fs)
|
rs886041687
|
|
NM_001127222.2(CACNA1A):c.1479_1480del (p.Ser494fs)
|
rs1555762869
|
|
NM_001127222.2(CACNA1A):c.1745G>A (p.Arg582Gln)
|
rs121908217
|
|
NM_001127222.2(CACNA1A):c.1994C>T (p.Thr665Met)
|
rs121908212
|
|
NM_001127222.2(CACNA1A):c.3411del (p.Lys1138fs)
|
rs746790849
|
|
NM_001127222.2(CACNA1A):c.4043G>A (p.Arg1348Gln)
|
rs1057520918
|
|
NM_001127222.2(CACNA1A):c.5529-1268C>A
|
rs765557914
|
|
NM_001127222.2(CACNA1A):c.653C>T (p.Ser218Leu)
|
rs121908225
|
|
NM_001128178.3(NPHP1):c.1361_1362del (p.Glu454fs)
|
rs1553484094
|
|
NM_001128178.3(NPHP1):c.143+1G>A
|
rs745806504
|
|
NM_001128178.3(NPHP1):c.555dup (p.Pro186fs)
|
rs766524637
|
|
NM_001130438.3(SPTAN1):c.6616GAG[1] (p.Glu2207del)
|
rs587784438
|
|
NM_001130438.3(SPTAN1):c.6899ACCAGCTGG[3] (p.2300DQL[3])
|
rs587784440
|
|
NM_001134407.3(GRIN2A):c.19dup (p.Trp7fs)
|
rs2142391531
|
|
NM_001134831.2(AHI1):c.1861G>T (p.Gly621Ter)
|
rs797045223
|
|
NM_001160372.4(TRAPPC9):c.370_373dup (p.Val125fs)
|
rs1174482090
|
|
NM_001160372.4(TRAPPC9):c.531dup (p.Leu178fs)
|
rs1554689877
|
|
NM_001164508.2(NEB):c.1471-1G>A
|
rs1553605995
|
|
NM_001164508.2(NEB):c.18597del (p.Tyr6200fs)
|
rs797045735
|
|
NM_001164508.2(NEB):c.19712_19716delinsGAG (p.Ala6571fs)
|
rs587780397
|
|
NM_001164508.2(NEB):c.24996del (p.Gln8333fs)
|
rs1553526884
|
|
NM_001164508.2(NEB):c.3567+1G>A
|
rs587780399
|
|
NM_001164508.2(NEB):c.3774+1G>A
|
rs111293259
|
|
NM_001165963.4(SCN1A):c.2836C>T (p.Arg946Cys)
|
rs121918775
|
|
NM_001165963.4(SCN1A):c.3723_3726del (p.Ile1240_Tyr1241insTer)
|
rs1553531385
|
|
NM_001165963.4(SCN1A):c.4554dup (p.Pro1519fs)
|
rs794726825
|
|
NM_001165963.4(SCN1A):c.5010_5013del (p.Phe1671fs)
|
rs794726754
|
|
NM_001165963.4(SCN1A):c.5797del (p.Arg1933fs)
|
rs587780446
|
|
NM_001173990.3(TMEM216):c.253C>T (p.Arg85Ter)
|
rs11230683
|
|
NM_001174096.2(ZEB1):c.1579dup (p.Val527fs)
|
rs766305306
|
|
NM_001184.4(ATR):c.4641+1G>T
|
rs797045403
|
|
NM_001184880.2(PCDH19):c.2399del (p.Asn800fs)
|
rs796052836
|
|
NM_001184880.2(PCDH19):c.490C>T (p.Gln164Ter)
|
rs797045873
|
|
NM_001191061.2(SLC25A22):c.418C>T (p.Gln140Ter)
|
rs797045969
|
|
NM_001194998.2(CEP152):c.2679del (p.Ser894fs)
|
rs587783421
|
|
NM_001194998.2(CEP152):c.3014_3015delinsT (p.Lys1005fs)
|
rs869312853
|
|
NM_001194998.2(CEP152):c.3016del (p.Thr1006fs)
|
rs587783423
|
|
NM_001194998.2(CEP152):c.3212del (p.Leu1071fs)
|
rs1555418825
|
|
NM_001195248.2(APTX):c.875-2A>G
|
rs904293109
|
|
NM_001195553.2(DCX):c.1045-2A>G
|
rs587783518
|
|
NM_001195553.2(DCX):c.115C>T (p.Arg39Ter)
|
rs587783519
|
|
NM_001195553.2(DCX):c.124del (p.Thr42fs)
|
rs587783520
|
|
NM_001195553.2(DCX):c.128T>C (p.Leu43Ser)
|
rs587783521
|
|
NM_001195553.2(DCX):c.130C>T (p.Gln44Ter)
|
rs587783522
|
|
NM_001195553.2(DCX):c.150G>T (p.Lys50Asn)
|
rs587783523
|
|
NM_001195553.2(DCX):c.151_154del (p.Lys51fs)
|
rs587783524
|
|
NM_001195553.2(DCX):c.176G>A (p.Arg59His)
|
rs122457137
|
|
NM_001195553.2(DCX):c.182G>A (p.Gly61Glu)
|
rs587783527
|
|
NM_001195553.2(DCX):c.210C>A (p.Tyr70Ter)
|
rs587783532
|
|
NM_001195553.2(DCX):c.218C>T (p.Ser73Phe)
|
rs587783533
|
|
NM_001195553.2(DCX):c.232C>T (p.Arg78Cys)
|
rs587783535
|
|
NM_001195553.2(DCX):c.233G>T (p.Arg78Leu)
|
rs104894784
|
|
NM_001195553.2(DCX):c.23_24del (p.His7_Phe8insTer)
|
rs797045510
|
|
NM_001195553.2(DCX):c.265C>T (p.Arg89Ter)
|
rs104894785
|
|
NM_001195553.2(DCX):c.266G>C (p.Arg89Pro)
|
rs61729440
|
|
NM_001195553.2(DCX):c.272T>C (p.Leu91Pro)
|
rs587783536
|
|
NM_001195553.2(DCX):c.280A>G (p.Asn94Asp)
|
rs797045512
|
|
NM_001195553.2(DCX):c.290T>G (p.Leu97Arg)
|
rs587783537
|
|
NM_001195553.2(DCX):c.299G>T (p.Gly100Val)
|
rs587783538
|
|
NM_001195553.2(DCX):c.2T>C (p.Met1Thr)
|
rs587783539
|
|
NM_001195553.2(DCX):c.301G>A (p.Val101Met)
|
rs587783540
|
|
NM_001195553.2(DCX):c.304C>T (p.Arg102Cys)
|
rs587783541
|
|
NM_001195553.2(DCX):c.305G>A (p.Arg102His)
|
rs267606317
|
|
NM_001195553.2(DCX):c.310A>T (p.Ile104Phe)
|
rs201870761
|
|
NM_001195553.2(DCX):c.339dup (p.Gly114fs)
|
rs797045514
|
|
NM_001195553.2(DCX):c.355_356del (p.Leu119fs)
|
rs1556404991
|
|
NM_001195553.2(DCX):c.364G>A (p.Gly122Arg)
|
rs587783544
|
|
NM_001195553.2(DCX):c.386C>T (p.Ser129Leu)
|
rs587783548
|
|
NM_001195553.2(DCX):c.391_393del (p.Asn131del)
|
rs587783549
|
|
NM_001195553.2(DCX):c.409G>T (p.Glu137Ter)
|
rs587783550
|
|
NM_001195553.2(DCX):c.412T>C (p.Tyr138His)
|
rs587783551
|
|
NM_001195553.2(DCX):c.413A>G (p.Tyr138Cys)
|
rs587783552
|
|
NM_001195553.2(DCX):c.451A>G (p.Lys151Glu)
|
rs587783553
|
|
NM_001195553.2(DCX):c.451A>T (p.Lys151Ter)
|
rs587783553
|
|
NM_001195553.2(DCX):c.478C>T (p.Gln160Ter)
|
rs587783554
|
|
NM_001195553.2(DCX):c.478_479del (p.Gln160fs)
|
rs587783555
|
|
NM_001195553.2(DCX):c.494_504del (p.Ser165fs)
|
rs587783556
|
|
NM_001195553.2(DCX):c.520A>G (p.Lys174Glu)
|
rs587783557
|
|
NM_001195553.2(DCX):c.528del (p.Phe176fs)
|
rs797045515
|
|
NM_001195553.2(DCX):c.532C>G (p.Arg178Gly)
|
rs587783558
|
|
NM_001195553.2(DCX):c.532C>T (p.Arg178Cys)
|
rs587783558
|
|
NM_001195553.2(DCX):c.533G>T (p.Arg178Leu)
|
rs587783559
|
|
NM_001195553.2(DCX):c.538A>G (p.Lys180Glu)
|
rs587783560
|
|
NM_001195553.2(DCX):c.544G>T (p.Val182Phe)
|
rs1556401951
|
|
NM_001195553.2(DCX):c.556C>T (p.Arg186Cys)
|
rs587783562
|
|
NM_001195553.2(DCX):c.557G>A (p.Arg186His)
|
rs587783563
|
|
NM_001195553.2(DCX):c.557G>T (p.Arg186Leu)
|
rs587783563
|
|
NM_001195553.2(DCX):c.55C>T (p.Arg19Ter)
|
rs587783564
|
|
NM_001195553.2(DCX):c.572C>G (p.Pro191Arg)
|
rs587783566
|
|
NM_001195553.2(DCX):c.574C>T (p.Arg192Trp)
|
rs104894780
|
|
NM_001195553.2(DCX):c.578_585del (p.Lys193fs)
|
rs587783567
|
|
NM_001195553.2(DCX):c.586C>A (p.Arg196Ser)
|
rs587783568
|
|
NM_001195553.2(DCX):c.586C>G (p.Arg196Gly)
|
rs587783568
|
|
NM_001195553.2(DCX):c.586C>T (p.Arg196Cys)
|
rs587783568
|
|
NM_001195553.2(DCX):c.607A>G (p.Thr203Ala)
|
rs587783570
|
|
NM_001195553.2(DCX):c.608C>A (p.Thr203Lys)
|
rs104894782
|
|
NM_001195553.2(DCX):c.611C>A (p.Ala204Asp)
|
rs587783571
|
|
NM_001195553.2(DCX):c.628G>T (p.Val210Phe)
|
rs587783573
|
|
NM_001195553.2(DCX):c.641T>C (p.Ile214Thr)
|
rs587783574
|
|
NM_001195553.2(DCX):c.651del (p.Ile218fs)
|
rs587783575
|
|
NM_001195553.2(DCX):c.666del (p.Val224fs)
|
rs587783576
|
|
NM_001195553.2(DCX):c.667G>A (p.Gly223Arg)
|
rs587783577
|
|
NM_001195553.2(DCX):c.670del (p.Val224fs)
|
rs587783578
|
|
NM_001195553.2(DCX):c.681del (p.Lys227fs)
|
rs587783579
|
|
NM_001195553.2(DCX):c.681dup (p.Leu228fs)
|
rs587783579
|
|
NM_001195553.2(DCX):c.683T>C (p.Leu228Pro)
|
rs587783580
|
|
NM_001195553.2(DCX):c.684_685del (p.Tyr229fs)
|
rs1556401744
|
|
NM_001195553.2(DCX):c.685_699dup (p.Tyr229_Gly233dup)
|
rs797045518
|
|
NM_001195553.2(DCX):c.705+1del
|
rs1556401725
|
|
NM_001195553.2(DCX):c.734ATG[2] (p.Asp247del)
|
rs587783583
|
|
NM_001195553.2(DCX):c.751G>T (p.Ala251Ser)
|
rs587783585
|
|
NM_001195553.2(DCX):c.766A>T (p.Lys256Ter)
|
rs587783586
|
|
NM_001195553.2(DCX):c.781C>T (p.Gln261Ter)
|
rs587783588
|
|
NM_001195553.2(DCX):c.809-1G>A
|
rs587783589
|
|
NM_001195553.2(DCX):c.814C>T (p.Arg272Ter)
|
rs587783590
|
|
NM_001195553.2(DCX):c.81_85dup (p.Pro29fs)
|
rs797045519
|
|
NM_001195553.2(DCX):c.853A>T (p.Lys285Ter)
|
rs587783591
|
|
NM_001195553.2(DCX):c.875dup (p.Thr293fs)
|
rs797045520
|
|
NM_001195553.2(DCX):c.907C>T (p.Arg303Ter)
|
rs587783592
|
|
NM_001195553.2(DCX):c.95G>A (p.Ser32Asn)
|
rs587783593
|
|
NM_001195794.1(CLRN1):c.149_152delinsTGTCCAAT (p.Ser50fs)
|
rs786204428
|
|
NM_001197104.2(KMT2A):c.11084C>G (p.Ser3695Ter)
|
rs782477344
|
|
NM_001197104.2(KMT2A):c.2318dup (p.Ser774fs)
|
rs782297546
|
|
NM_001197104.2(KMT2A):c.2569G>T (p.Glu857Ter)
|
rs2134270387
|
|
NM_001197104.2(KMT2A):c.2673_2674del (p.Arg893fs)
|
rs587783676
|
|
NM_001197104.2(KMT2A):c.458C>G (p.Ser153Ter)
|
rs587783678
|
|
NM_001197104.2(KMT2A):c.6811del (p.Arg2271fs)
|
rs797045656
|
|
NM_001197104.2(KMT2A):c.7831G>T (p.Glu2611Ter)
|
rs587783679
|
|
NM_001197104.2(KMT2A):c.8095C>T (p.Arg2699Ter)
|
rs587783680
|
|
NM_001205254.2(OCLN):c.1037+5G>A
|
rs797045840
|
|
NM_001205254.2(OCLN):c.173_194del (p.Trp58fs)
|
rs797045841
|
|
NM_001242896.3(DEPDC5):c.4106G>A (p.Trp1369Ter)
|
rs2149378392
|
|
NM_001244008.2(KIF1A):c.173C>T (p.Ser58Leu)
|
rs672601362
|
|
NM_001253852.3(AP4B1):c.1160_1161del (p.Thr387fs)
|
rs587779388
|
|
NM_001253852.3(AP4B1):c.1490_1503del (p.Arg497fs)
|
rs1553257236
|
|
NM_001253852.3(AP4B1):c.311_312delinsC (p.Leu104fs)
|
rs797045244
|
|
NM_001253852.3(AP4B1):c.313del (p.Ala105fs)
|
rs587783179
|
|
NM_001267550.2(TTN):c.23903_23904delinsA (p.Gly7968fs)
|
rs797046060
|
|
NM_001267550.2(TTN):c.42486_42489del (p.Cys14163fs)
|
rs797046064
|
|
NM_001267550.2(TTN):c.5047C>T (p.Arg1683Ter)
|
rs587780490
|
|
NM_001267550.2(TTN):c.86799_86802del (p.Glu28935_Gly28936insTer)
|
rs727504856
|
|
NM_001272071.2(AP1S2):c.281del (p.Phe94fs)
|
rs1555904182
|
|
NM_001272071.2(AP1S2):c.426+1G>T
|
rs587777542
|
|
NM_001278116.2(L1CAM):c.1354G>A (p.Gly452Arg)
|
rs137852520
|
|
NM_001278116.2(L1CAM):c.2278C>T (p.Arg760Ter)
|
rs797045673
|
|
NM_001278116.2(L1CAM):c.2351A>G (p.Tyr784Cys)
|
rs797045674
|
|
NM_001278116.2(L1CAM):c.3053C>G (p.Ser1018Ter)
|
rs1557090161
|
|
NM_001278116.2(L1CAM):c.807-6G>A
|
rs886039405
|
|
NM_001282225.2(ADA2):c.140G>C (p.Gly47Ala)
|
rs200930463
|
|
NM_001282531.3(ADNP):c.69dup (p.Ser24Ter)
|
rs2122840680
|
|
NM_001283009.2(RTEL1):c.1135+1G>A
|
rs1555903332
|
|
NM_001283009.2(RTEL1):c.3109+1G>C
|
rs2145471794
|
|
NM_001283009.2(RTEL1):c.3370del (p.His1124fs)
|
rs1555814400
|
|
NM_001291415.2(KDM6A):c.1699del (p.Val567fs)
|
rs797045642
|
|
NM_001291415.2(KDM6A):c.2671_2674del (p.Asn891fs)
|
rs786205676
|
|
NM_001291415.2(KDM6A):c.3138del (p.Asn1046fs)
|
rs2148118664
|
|
NM_001323289.2(CDKL5):c.125A>G (p.Lys42Arg)
|
rs267608429
|
|
NM_001323289.2(CDKL5):c.1345G>T (p.Glu449Ter)
|
rs1555952015
|
|
NM_001323289.2(CDKL5):c.1345_1346del (p.Glu449fs)
|
rs587783398
|
|
NM_001323289.2(CDKL5):c.146-1G>A
|
rs587783399
|
|
NM_001323289.2(CDKL5):c.155_156del (p.Glu52fs)
|
rs2147139532
|
|
NM_001323289.2(CDKL5):c.1612_1613del (p.Thr538fs)
|
rs2147160920
|
|
NM_001323289.2(CDKL5):c.1675C>T (p.Arg559Ter)
|
rs267608395
|
|
NM_001323289.2(CDKL5):c.1684_1687del (p.Thr562fs)
|
rs1555952101
|
|
NM_001323289.2(CDKL5):c.175C>T (p.Arg59Ter)
|
rs62653623
|
|
NM_001323289.2(CDKL5):c.1797dup (p.Ser600fs)
|
rs587783401
|
|
NM_001323289.2(CDKL5):c.1954C>T (p.Gln652Ter)
|
rs267608647
|
|
NM_001323289.2(CDKL5):c.199C>T (p.Leu67Phe)
|
rs267608437
|
|
NM_001323289.2(CDKL5):c.2413C>T (p.Gln805Ter)
|
rs267608659
|
|
NM_001323289.2(CDKL5):c.2572del (p.Arg858fs)
|
rs267608662
|
|
NM_001323289.2(CDKL5):c.2593C>T (p.Gln865Ter)
|
rs267608663
|
|
NM_001323289.2(CDKL5):c.2596C>T (p.Gln866Ter)
|
rs587783158
|
|
NM_001323289.2(CDKL5):c.2635_2636del (p.Leu879fs)
|
rs61753251
|
|
NM_001323289.2(CDKL5):c.513C>A (p.Tyr171Ter)
|
rs267608490
|
|
NM_001323289.2(CDKL5):c.549dup (p.Leu184fs)
|
rs267608497
|
|
NM_001323289.2(CDKL5):c.578A>G (p.Asp193Gly)
|
rs267608500
|
|
NM_001323289.2(CDKL5):c.587C>T (p.Ser196Leu)
|
rs267608501
|
|
NM_001323289.2(CDKL5):c.622C>T (p.Gln208Ter)
|
rs587783405
|
|
NM_001330260.2(SCN8A):c.4435A>G (p.Ile1479Val)
|
rs796053217
|
|
NM_001330311.2(DVL1):c.1131C>A (p.Tyr377Ter)
|
rs779477027
|
|
NM_001347721.2(DYRK1A):c.1271_1272insT (p.Pro425fs)
|
rs797045539
|
|
NM_001347721.2(DYRK1A):c.1282C>T (p.Arg428Ter)
|
rs724159953
|
|
NM_001347721.2(DYRK1A):c.322C>T (p.Arg108Ter)
|
rs1057518204
|
|
NM_001347721.2(DYRK1A):c.736C>T (p.Arg246Ter)
|
rs724159948
|
|
NM_001349338.3(FOXP1):c.1507C>T (p.Arg503Ter)
|
rs797045584
|
|
NM_001349338.3(FOXP1):c.1541G>A (p.Arg514His)
|
rs797045586
|
|
NM_001349338.3(FOXP1):c.606del (p.Gly203fs)
|
rs1553709907
|
|
NM_001354712.2(THRB):c.1305T>G (p.His435Gln)
|
rs1553609185
|
|
NM_001354712.2(THRB):c.700G>A (p.Ala234Thr)
|
rs121918694
|
|
NM_001354712.2(THRB):c.830C>T (p.Thr277Ile)
|
rs2148894604
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001363711.2(DUOX2):c.602dup (p.Gln202fs)
|
rs567500345
|
|
NM_001365088.1(SLC12A6):c.2436+1del
|
rs515726215
|
|
NM_001365902.3(NFIX):c.1080_1096del (p.Ser361fs)
|
rs797045737
|
|
NM_001365902.3(NFIX):c.179del (p.Leu60fs)
|
rs2145191753
|
|
NM_001365902.3(NFIX):c.927dup (p.Ser310fs)
|
rs1555705733
|
|
NM_001365902.3(NFIX):c.970_971del (p.Lys324fs)
|
rs797045738
|
|
NM_001367721.1(CASK):c.1639C>T (p.Gln547Ter)
|
rs387906705
|
|
NM_001367721.1(CASK):c.1644_1645del (p.Val549fs)
|
rs587783357
|
|
NM_001367721.1(CASK):c.1683dup (p.Ser562fs)
|
rs2147151260
|
|
NM_001367721.1(CASK):c.1864G>T (p.Glu622Ter)
|
rs1555980033
|
|
NM_001367721.1(CASK):c.1981del (p.Leu661fs)
|
rs797045431
|
|
NM_001367721.1(CASK):c.2041C>T (p.Arg681Ter)
|
rs587783360
|
|
NM_001367721.1(CASK):c.2074C>T (p.Gln692Ter)
|
rs587783361
|
|
NM_001367721.1(CASK):c.20_27del (p.Leu7fs)
|
rs587783362
|
|
NM_001367721.1(CASK):c.2392C>T (p.Gln798Ter)
|
rs749742837
|
|
NM_001367721.1(CASK):c.2485C>T (p.Gln829Ter)
|
rs587783364
|
|
NM_001367721.1(CASK):c.2546_2547del (p.Glu849fs)
|
rs797045433
|
|
NM_001367721.1(CASK):c.2549_2550del (p.Phe850fs)
|
rs1555972628
|
|
NM_001367721.1(CASK):c.316C>T (p.Arg106Ter)
|
rs387906704
|
|
NM_001367721.1(CASK):c.430-2A>T
|
rs587783366
|
|
NM_001367721.1(CASK):c.708+1G>A
|
rs587783368
|
|
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter)
|
rs587783370
|
|
NM_001367721.1(CASK):c.846C>G (p.Tyr282Ter)
|
rs886128077
|
|
NM_001367721.1(CASK):c.880C>T (p.Gln294Ter)
|
rs587783371
|
|
NM_001370259.2(MEN1):c.628_631del (p.Thr210fs)
|
rs794728640
|
|
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)
|
rs80338684
|
|
NM_001371623.1(TCOF1):c.386_387del (p.Thr129fs)
|
rs797046037
|
|
NM_001371623.1(TCOF1):c.4368dup (p.Glu1457fs)
|
rs587776585
|
|
NM_001371623.1(TCOF1):c.4372_4376del (p.Lys1458fs)
|
rs587776582
|
|
NM_001374828.1(ARID1B):c.1732C>T (p.Gln578Ter)
|
rs1554248236
|
|
NM_001374828.1(ARID1B):c.2109dup (p.Ser704fs)
|
rs1554265319
|
|
NM_001374828.1(ARID1B):c.2359C>T (p.Gln787Ter)
|
rs753933273
|
|
NM_001374828.1(ARID1B):c.2458C>T (p.Arg820Ter)
|
rs797045272
|
|
NM_001374828.1(ARID1B):c.2675dup (p.Gln893fs)
|
rs1554301230
|
|
NM_001374828.1(ARID1B):c.3618_3619del (p.Gly1207fs)
|
rs2128317232
|
|
NM_001374828.1(ARID1B):c.3799C>T (p.Gln1267Ter)
|
rs1554231836
|
|
NM_001374828.1(ARID1B):c.3819del (p.Phe1273fs)
|
rs1554231845
|
|
NM_001374828.1(ARID1B):c.4267C>T (p.Gln1423Ter)
|
rs1554234341
|
|
NM_001374828.1(ARID1B):c.4471C>T (p.Gln1491Ter)
|
rs587779745
|
|
NM_001374828.1(ARID1B):c.4746del (p.Pro1583fs)
|
rs587779746
|
|
NM_001374828.1(ARID1B):c.5425dup (p.Tyr1809fs)
|
rs797045279
|
|
NM_001374828.1(ARID1B):c.5520del (p.Lys1841fs)
|
rs797045280
|
|
NM_001374828.1(ARID1B):c.5522del (p.Lys1841fs)
|
rs797045281
|
|
NM_001374828.1(ARID1B):c.5763_5766del (p.Phe1921fs)
|
rs1554237269
|
|
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.6337C>T (p.Arg2113Ter)
|
rs797045283
|
|
NM_001376.5(DYNC1H1):c.4700G>A (p.Arg1567Gln)
|
rs797044901
|
|
NM_001378452.1(ITPR1):c.805C>T (p.Arg269Trp)
|
rs886039392
|
|
NM_001378454.1(ALMS1):c.10882C>T (p.Arg3628Ter)
|
rs1473611414
|
|
NM_001378454.1(ALMS1):c.12115-1G>T
|
rs769160407
|
|
NM_001378454.1(ALMS1):c.6433C>T (p.Arg2145Ter)
|
rs770558150
|
|
NM_001378454.1(ALMS1):c.6568_6571del (p.Ser2190fs)
|
rs1034630858
|
|
NM_001378615.1(CC2D2A):c.2683C>T (p.Gln895Ter)
|
rs764719093
|
|
NM_001378615.1(CC2D2A):c.4179+1del
|
rs386833760
|
|
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs)
|
rs797045437
|
|
NM_001378778.1(MPDZ):c.755G>A (p.Trp252Ter)
|
rs797045707
|
|
NM_001378969.1(KCND3):c.1034G>T (p.Gly345Val)
|
rs797045634
|
|
NM_001379110.1(SLC9A6):c.2012T>G (p.Leu671Ter)
|
rs587784399
|
|
NM_001379110.1(SLC9A6):c.27del (p.Lys9fs)
|
rs587784398
|
|
NM_001379500.1(COL18A1):c.2118dup (p.Gly707fs)
|
rs775168204
|
|
NM_001382289.1(FSHB):c.236_237del (p.Val79fs)
|
rs5030646
|
|
NM_001382391.1(CSPP1):c.2259_2262del (p.Glu755fs)
|
rs587777145
|
|
NM_001382391.1(CSPP1):c.2829-9_2968+11del
|
rs1554614893
|
|
NM_001384732.1(CPLANE1):c.1819del (p.Tyr607fs)
|
rs777686211
|
|
NM_001384732.1(CPLANE1):c.8150_8151del (p.Gly2717fs)
|
rs730882217
|
|
NM_001386140.1(MTTP):c.708_709del (p.His236fs)
|
rs1553926818
|
|
NM_001429.4(EP300):c.4585C>T (p.Arg1529Ter)
|
rs1569118537
|
|
NM_001429.4(EP300):c.4836dup (p.Val1613fs)
|
rs797045559
|
|
NM_001429.4(EP300):c.6915_6918del (p.Asn2305fs)
|
rs797045560
|
|
NM_001614.5(ACTG1):c.464C>T (p.Ser155Phe)
|
rs281875326
|
|
NM_001614.5(ACTG1):c.766C>T (p.Arg256Trp)
|
rs281875329
|
|
NM_001673.5(ASNS):c.413A>T (p.Asp138Val)
|
rs797045306
|
|
NM_001673.5(ASNS):c.478del (p.Glu160fs)
|
rs797045307
|
|
NM_001753.5(CAV1):c.401_402delinsA (p.Ile134fs)
|
rs587780295
|
|
NM_001754.5(RUNX1):c.351+1G>A
|
rs1060502579
|
|
NM_001754.5(RUNX1):c.601C>T (p.Arg201Ter)
|
rs1057519748
|
|
NM_001830.4(CLCN4):c.2152C>T (p.Arg718Trp)
|
rs879255584
|
|
NM_001848.3(COL6A1):c.1003-2A>G
|
rs797045477
|
|
NM_001904.4(CTNNB1):c.427_470dup (p.Lys158_Leu159insMetMetGlnAsnLeuProHisValGlnSerLeuAsnTerLys)
|
rs1553630304
|
|
NM_001972.4(ELANE):c.416C>T (p.Pro139Leu)
|
rs137854448
|
|
NM_001972.4(ELANE):c.597+1G>A
|
rs1555710005
|
|
NM_001987.5(ETV6):c.1153-1_1165del
|
rs2136602093
|
|
NM_001987.5(ETV6):c.1153-2_1165del
|
rs2136602130
|
|
NM_001987.5(ETV6):c.614del (p.Leu205fs)
|
rs1555144911
|
|
NM_001987.5(ETV6):c.641C>T (p.Pro214Leu)
|
rs724159947
|
|
NM_002206.3(ITGA7):c.1088dup (p.His364fs)
|
rs587780362
|
|
NM_002397.5(MEF2C):c.2T>C (p.Met1Thr)
|
rs545185248
|
|
NM_002397.5(MEF2C):c.51_54del (p.Arg17_Gln18insTer)
|
rs1554150543
|
|
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter)
|
rs587783747
|
|
NM_002397.5(MEF2C):c.833del (p.Leu277_Leu278insTer)
|
rs587783749
|
|
NM_002473.6(MYH9):c.3493C>T (p.Arg1165Cys)
|
rs80338829
|
|
NM_002473.6(MYH9):c.4270G>A (p.Asp1424Asn)
|
rs80338831
|
|
NM_002474.3(MYH11):c.2809_2810del (p.Arg937fs)
|
rs749497185
|
|
NM_002474.3(MYH11):c.3422_3470del (p.Lys1141fs)
|
rs797045725
|
|
NM_002485.5(NBN):c.1974del (p.Glu658fs)
|
rs1057516668
|
|
NM_002485.5(NBN):c.657_661del (p.Lys219fs)
|
rs587776650
|
|
NM_002485.5(NBN):c.698_701del (p.Lys233fs)
|
rs587780100
|
|
NM_002547.3(OPHN1):c.496C>T (p.Gln166Ter)
|
rs587784234
|
|
NM_002582.4(PARN):c.1006-2A>G
|
rs1469272825
|
|
NM_002582.4(PARN):c.1257dup (p.Asn420Ter)
|
rs942538351
|
|
NM_002582.4(PARN):c.1624del (p.Gln542fs)
|
rs1341745986
|
|
NM_002582.4(PARN):c.24del (p.Phe8fs)
|
rs1555512179
|
|
NM_002582.4(PARN):c.709C>T (p.Arg237Ter)
|
rs760506977
|
|
NM_002582.4(PARN):c.811dup (p.Ser271fs)
|
rs2151779880
|
|
NM_002834.5(PTPN11):c.172A>G (p.Asn58Asp)
|
rs397507505
|
|
NM_002834.5(PTPN11):c.181G>A (p.Asp61Asn)
|
rs397507510
|
|
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)
|
rs267606990
|
|
NM_002894.3(RBBP8):c.604+1G>T
|
rs587780432
|
|
NM_003002.4(SDHD):c.64C>T (p.Arg22Ter)
|
rs104894306
|
|
NM_003042.4(SLC6A1):c.1324-2del
|
rs2124936720
|
|
NM_003070.5(SMARCA2):c.2486C>T (p.Thr829Ile)
|
rs797045974
|
|
NM_003070.5(SMARCA2):c.2853G>C (p.Lys951Asn)
|
rs1554624100
|
|
NM_003072.5(SMARCA4):c.2922del (p.Phe975fs)
|
rs797045980
|
|
NM_003072.5(SMARCA4):c.3480dup (p.Leu1161fs)
|
rs797045982
|
|
NM_003072.5(SMARCA4):c.4667del (p.Val1556fs)
|
rs797045987
|
|
NM_003079.5(SMARCE1):c.624_627del (p.Ser208fs)
|
rs797045990
|
|
NM_003119.4(SPG7):c.1053dup (p.Gly352fs)
|
rs760818649
|
|
NM_003119.4(SPG7):c.473_474del (p.Leu158fs)
|
rs879253798
|
|
NM_003119.4(SPG7):c.861dup (p.Asn288Ter)
|
rs797046003
|
|
NM_003140.3(SRY):c.331C>T (p.Gln111Ter)
|
rs1556370543
|
|
NM_003159.2(CDKL5):c.65dupG
|
rs267608420
|
|
NM_003172.4(SURF1):c.845_846del (p.Ser282fs)
|
rs782316919
|
|
NM_003235.5(TG):c.266dup (p.Val90fs)
|
rs1554649344
|
|
NM_003282.4(TNNI2):c.466C>T (p.Arg156Ter)
|
rs104894312
|
|
NM_003282.4(TNNI2):c.521G>A (p.Arg174Gln)
|
rs104894311
|
|
NM_003289.4(TPM2):c.412GAG[1] (p.Glu139del)
|
rs199476153
|
|
NM_003336.4(UBE2A):c.67G>A (p.Gly23Arg)
|
rs1556235551
|
|
NM_003467.3(CXCR4):c.1012_1015dup (p.Ser339fs)
|
rs2104915543
|
|
NM_003482.4(KMT2D):c.11263C>T (p.Gln3755Ter)
|
rs587783681
|
|
NM_003482.4(KMT2D):c.11290C>T (p.Gln3764Ter)
|
rs587783682
|
|
NM_003482.4(KMT2D):c.11386del (p.Gln3796fs)
|
rs587783683
|
|
NM_003482.4(KMT2D):c.11845C>T (p.Gln3949Ter)
|
rs797045658
|
|
NM_003482.4(KMT2D):c.12592C>T (p.Arg4198Ter)
|
rs587783685
|
|
NM_003482.4(KMT2D):c.12896del (p.Gly4299fs)
|
rs587783686
|
|
NM_003482.4(KMT2D):c.12956_12957del (p.Arg4319fs)
|
rs587783687
|
|
NM_003482.4(KMT2D):c.12962C>A (p.Ser4321Ter)
|
rs587783688
|
|
NM_003482.4(KMT2D):c.1329_1332del (p.Pro444fs)
|
rs587783689
|
|
NM_003482.4(KMT2D):c.13450C>T (p.Arg4484Ter)
|
rs587783690
|
|
NM_003482.4(KMT2D):c.13518del (p.Ser4507fs)
|
rs587783691
|
|
NM_003482.4(KMT2D):c.13606C>T (p.Arg4536Ter)
|
rs587783692
|
|
NM_003482.4(KMT2D):c.13996_13997del (p.Arg4666fs)
|
rs587783693
|
|
NM_003482.4(KMT2D):c.14710C>T (p.Arg4904Ter)
|
rs398123721
|
|
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter)
|
rs587783695
|
|
NM_003482.4(KMT2D):c.15079C>T (p.Arg5027Ter)
|
rs797045659
|
|
NM_003482.4(KMT2D):c.15195G>A (p.Trp5065Ter)
|
rs587783696
|
|
NM_003482.4(KMT2D):c.15791G>A (p.Trp5264Ter)
|
rs587783697
|
|
NM_003482.4(KMT2D):c.15844C>T (p.Arg5282Ter)
|
rs587783698
|
|
NM_003482.4(KMT2D):c.15943C>T (p.Gln5315Ter)
|
rs587783699
|
|
NM_003482.4(KMT2D):c.16438_16441del (p.Asn5480fs)
|
rs587783703
|
|
NM_003482.4(KMT2D):c.1813G>T (p.Glu605Ter)
|
rs587783705
|
|
NM_003482.4(KMT2D):c.256G>T (p.Glu86Ter)
|
rs587783708
|
|
NM_003482.4(KMT2D):c.2954_2955insT (p.Pro986fs)
|
rs797045660
|
|
NM_003482.4(KMT2D):c.303del (p.Ser102fs)
|
rs797045661
|
|
NM_003482.4(KMT2D):c.3121C>T (p.Gln1041Ter)
|
rs587783711
|
|
NM_003482.4(KMT2D):c.3553C>T (p.Gln1185Ter)
|
rs587783712
|
|
NM_003482.4(KMT2D):c.3585dup (p.Pro1196fs)
|
rs797045662
|
|
NM_003482.4(KMT2D):c.3591del (p.Thr1198fs)
|
rs797045663
|
|
NM_003482.4(KMT2D):c.3695del (p.Pro1232fs)
|
rs587783713
|
|
NM_003482.4(KMT2D):c.3754C>T (p.Arg1252Ter)
|
rs727503987
|
|
NM_003482.4(KMT2D):c.400+1G>C
|
rs587783714
|
|
NM_003482.4(KMT2D):c.4135_4136del (p.Met1379fs)
|
rs398123744
|
|
NM_003482.4(KMT2D):c.4209C>A (p.Cys1403Ter)
|
rs1555195441
|
|
NM_003482.4(KMT2D):c.4221del (p.Cys1408fs)
|
rs587783715
|
|
NM_003482.4(KMT2D):c.4739del (p.Pro1580fs)
|
rs587783719
|
|
NM_003482.4(KMT2D):c.4981dup (p.Glu1661fs)
|
rs797045667
|
|
NM_003482.4(KMT2D):c.5269C>T (p.Arg1757Ter)
|
rs1555194045
|
|
NM_003482.4(KMT2D):c.5713C>T (p.Gln1905Ter)
|
rs2120560322
|
|
NM_003482.4(KMT2D):c.603_604dup (p.Gly202fs)
|
rs1555198491
|
|
NM_003482.4(KMT2D):c.6086del (p.Pro2029fs)
|
rs587783723
|
|
NM_003482.4(KMT2D):c.6126C>A (p.Cys2042Ter)
|
rs556669370
|
|
NM_003482.4(KMT2D):c.6171dup (p.Ala2058fs)
|
rs797045668
|
|
NM_003482.4(KMT2D):c.6172del (p.Ala2058fs)
|
rs797045669
|
|
NM_003482.4(KMT2D):c.6595del (p.Tyr2199fs)
|
rs398123753
|
|
NM_003482.4(KMT2D):c.6613delinsAA (p.Ala2205fs)
|
rs2120542630
|
|
NM_003482.4(KMT2D):c.6670_6674del (p.Gly2224fs)
|
rs587783725
|
|
NM_003482.4(KMT2D):c.8053C>T (p.Arg2685Ter)
|
rs587783727
|
|
NM_003482.4(KMT2D):c.8171_8175del (p.Pro2724fs)
|
rs587783728
|
|
NM_003482.4(KMT2D):c.836dup (p.Cys279fs)
|
rs797045670
|
|
NM_003482.4(KMT2D):c.8445_8475dup (p.Ala2826fs)
|
rs797045671
|
|
NM_003482.4(KMT2D):c.8743C>T (p.Arg2915Ter)
|
rs587783729
|
|
NM_003482.4(KMT2D):c.9540del (p.Glu3181fs)
|
rs797045672
|
|
NM_003560.4(PLA2G6):c.1349-2A>G
|
rs797045888
|
|
NM_003560.4(PLA2G6):c.1509del (p.Ser504fs)
|
rs587784333
|
|
NM_003560.4(PLA2G6):c.1674del (p.Leu560fs)
|
rs587784336
|
|
NM_003560.4(PLA2G6):c.2070_2072del (p.Val691del)
|
rs587784343
|
|
NM_003560.4(PLA2G6):c.2098C>T (p.Gln700Ter)
|
rs587784346
|
|
NM_003560.4(PLA2G6):c.2327_2328del (p.Thr776fs)
|
rs587784352
|
|
NM_003560.4(PLA2G6):c.517C>T (p.Gln173Ter)
|
rs587784357
|
|
NM_003560.4(PLA2G6):c.755del (p.Asn252fs)
|
rs587784361
|
|
NM_003560.4(PLA2G6):c.821T>G (p.Met274Arg)
|
rs587784362
|
|
NM_003611.3(OFD1):c.1193_1196del (p.Gln398fs)
|
rs312262868
|
|
NM_003611.3(OFD1):c.1332del (p.Lys444fs)
|
rs587784231
|
|
NM_003611.3(OFD1):c.877_878del (p.Met293fs)
|
rs312262858
|
|
NM_003793.4(CTSF):c.843_844del (p.Ala282fs)
|
rs1555058286
|
|
NM_003793.4(CTSF):c.962A>G (p.Gln321Arg)
|
rs397514731
|
|
NM_003849.4(SUCLG1):c.507del (p.Asn171fs)
|
rs797046017
|
|
NM_003919.3(SGCE):c.289C>T (p.Arg97Ter)
|
rs121908489
|
|
NM_004004.6(GJB2):c.158G>A (p.Cys53Tyr)
|
rs587783645
|
|
NM_004004.6(GJB2):c.235del (p.Leu79fs)
|
rs80338943
|
|
NM_004004.6(GJB2):c.250G>C (p.Val84Leu)
|
rs104894409
|
|
NM_004004.6(GJB2):c.313_326del (p.Lys105fs)
|
rs111033253
|
|
NM_004004.6(GJB2):c.314_329del (p.Lys105fs)
|
rs797045596
|
|
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)
|
rs80338947
|
|
NM_004004.6(GJB2):c.35G>T (p.Gly12Val)
|
rs1801002
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004004.6(GJB2):c.551G>A (p.Arg184Gln)
|
rs80338950
|
|
NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer)
|
rs111033335
|
|
NM_004004.6(GJB2):c.632_633del (p.Cys211fs)
|
rs587783646
|
|
NM_004004.6(GJB2):c.647_650del (p.Arg216fs)
|
rs587783647
|
|
NM_004006.2:c.7661-14207_7700delinsCTGTTGCCTCCGGTTCTG
|
|
|
NM_004035.7(ACOX1):c.551C>G (p.Ser184Ter)
|
rs780887410
|
|
NM_004069.6(AP2S1):c.43C>T (p.Arg15Cys)
|
rs397514498
|
|
NM_004069.6(AP2S1):c.44G>T (p.Arg15Leu)
|
rs397514499
|
|
NM_004187.5(KDM5C):c.3118C>T (p.Gln1040Ter)
|
rs782246658
|
|
NM_004247.4(EFTUD2):c.1149+1G>C
|
rs797045550
|
|
NM_004247.4(EFTUD2):c.1297_1298del (p.Met433fs)
|
rs797045551
|
|
NM_004247.4(EFTUD2):c.2198G>A (p.Trp733Ter)
|
rs1555564341
|
|
NM_004247.4(EFTUD2):c.784C>T (p.Arg262Trp)
|
rs387906877
|
|
NM_004364.5(CEBPA):c.119dup (p.Gln41fs)
|
rs1555742295
|
|
NM_004364.5(CEBPA):c.260_261dup (p.Gln88fs)
|
rs2145263441
|
|
NM_004364.5(CEBPA):c.332_339del (p.Ala111fs)
|
rs1555742213
|
|
NM_004369.4(COL6A3):c.6181C>T (p.Arg2061Ter)
|
rs797045479
|
|
NM_004380.2(CREBBP):c.(?_-23)_85+?del
|
|
|
NM_004380.3(CREBBP):c.1063C>T (p.Gln355Ter)
|
rs587783460
|
|
NM_004380.3(CREBBP):c.1156C>T (p.Arg386Ter)
|
rs587783461
|
|
NM_004380.3(CREBBP):c.1237C>T (p.Arg413Ter)
|
rs1302427305
|
|
NM_004380.3(CREBBP):c.1257G>A (p.Trp419Ter)
|
rs587783463
|
|
NM_004380.3(CREBBP):c.1270C>T (p.Arg424Ter)
|
rs587783464
|
|
NM_004380.3(CREBBP):c.1590del (p.Asn530fs)
|
rs587783465
|
|
NM_004380.3(CREBBP):c.1821del (p.Lys607fs)
|
rs587783467
|
|
NM_004380.3(CREBBP):c.2026del (p.Gln676fs)
|
rs587783469
|
|
NM_004380.3(CREBBP):c.2122_2123del (p.Leu708fs)
|
rs587783470
|
|
NM_004380.3(CREBBP):c.2178dup (p.Met727fs)
|
rs797045483
|
|
NM_004380.3(CREBBP):c.2535C>A (p.Cys845Ter)
|
rs587783471
|
|
NM_004380.3(CREBBP):c.2606_2607del (p.Leu869fs)
|
rs587783473
|
|
NM_004380.3(CREBBP):c.2679_2690delinsCC (p.Ser894fs)
|
rs797045484
|
|
NM_004380.3(CREBBP):c.2791C>T (p.Gln931Ter)
|
rs587783475
|
|
NM_004380.3(CREBBP):c.2810dup (p.Ser938fs)
|
rs797045485
|
|
NM_004380.3(CREBBP):c.282dup (p.Val95fs)
|
rs797045486
|
|
NM_004380.3(CREBBP):c.286C>T (p.Gln96Ter)
|
rs587783476
|
|
NM_004380.3(CREBBP):c.299del (p.Gly100fs)
|
rs587783477
|
|
NM_004380.3(CREBBP):c.2T>A (p.Met1Lys)
|
rs797045487
|
|
NM_004380.3(CREBBP):c.3077_3085delinsAA (p.Leu1026_Ala1029delinsTer)
|
rs797045488
|
|
NM_004380.3(CREBBP):c.316C>T (p.Gln106Ter)
|
rs587783478
|
|
NM_004380.3(CREBBP):c.3310C>T (p.Gln1104Ter)
|
rs587783479
|
|
NM_004380.3(CREBBP):c.3369+1G>T
|
rs587783480
|
|
NM_004380.3(CREBBP):c.3436C>T (p.Gln1146Ter)
|
rs797045489
|
|
NM_004380.3(CREBBP):c.3461dup (p.Asp1155fs)
|
rs797045490
|
|
NM_004380.3(CREBBP):c.348_349dup (p.Ala117fs)
|
rs797045491
|
|
NM_004380.3(CREBBP):c.3613G>T (p.Glu1205Ter)
|
rs587783482
|
|
NM_004380.3(CREBBP):c.3779+1G>A
|
rs587783483
|
|
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys)
|
rs267606752
|
|
NM_004380.3(CREBBP):c.3836+1G>A
|
rs200782888
|
|
NM_004380.3(CREBBP):c.3914+1G>T
|
rs1555475352
|
|
NM_004380.3(CREBBP):c.3982+1G>A
|
rs398124145
|
|
NM_004380.3(CREBBP):c.3983-2A>G
|
rs587783486
|
|
NM_004380.3(CREBBP):c.4045C>T (p.Gln1349Ter)
|
rs587783489
|
|
NM_004380.3(CREBBP):c.4078C>T (p.Arg1360Ter)
|
rs587783490
|
|
NM_004380.3(CREBBP):c.4133+1G>A
|
rs587783491
|
|
NM_004380.3(CREBBP):c.4398T>A (p.Tyr1466Ter)
|
rs147688139
|
|
NM_004380.3(CREBBP):c.4444T>G (p.Tyr1482Asp)
|
rs587783495
|
|
NM_004380.3(CREBBP):c.4508A>G (p.Tyr1503Cys)
|
rs587783497
|
|
NM_004380.3(CREBBP):c.4689del (p.Lys1565fs)
|
rs587783499
|
|
NM_004380.3(CREBBP):c.4792del (p.Ser1598fs)
|
rs587783500
|
|
NM_004380.3(CREBBP):c.5027G>A (p.Trp1676Ter)
|
rs797045495
|
|
NM_004380.3(CREBBP):c.5821C>T (p.Gln1941Ter)
|
rs587783505
|
|
NM_004380.3(CREBBP):c.5834_5844del (p.Pro1945fs)
|
rs587783506
|
|
NM_004380.3(CREBBP):c.5837del (p.Pro1946fs)
|
rs587783507
|
|
NM_004380.3(CREBBP):c.5837dup (p.Pro1947fs)
|
rs587783507
|
|
NM_004380.3(CREBBP):c.5869del (p.Glu1957fs)
|
rs587783508
|
|
NM_004380.3(CREBBP):c.5936_5937insT (p.Ser1980fs)
|
rs797045498
|
|
NM_004380.3(CREBBP):c.598C>T (p.Gln200Ter)
|
rs587783509
|
|
NM_004380.3(CREBBP):c.6088C>T (p.Gln2030Ter)
|
rs587783510
|
|
NM_004380.3(CREBBP):c.6107_6116del (p.Pro2036fs)
|
rs797045499
|
|
NM_004380.3(CREBBP):c.6395_6417dup (p.Gln2140fs)
|
rs797045500
|
|
NM_004380.3(CREBBP):c.827_828dup (p.Gly277fs)
|
rs797045502
|
|
NM_004380.3(CREBBP):c.86-1G>T
|
rs11644721
|
|
NM_004380.3(CREBBP):c.86-2A>C
|
rs587783515
|
|
NM_004380.3(CREBBP):c.953C>A (p.Ser318Ter)
|
rs587783516
|
|
NM_004387.4(NKX2-5):c.471_472del (p.Phe157fs)
|
rs587784066
|
|
NM_004387.4(NKX2-5):c.478_480delinsGTACCGTT (p.Gln160fs)
|
rs797045790
|
|
NM_004387.4(NKX2-5):c.512T>G (p.Leu171Arg)
|
rs797045791
|
|
NM_004387.4(NKX2-5):c.554G>T (p.Trp185Leu)
|
rs797045792
|
|
NM_004387.4(NKX2-5):c.783del (p.Ala262fs)
|
rs587784067
|
|
NM_004429.5(EFNB1):c.128+2T>A
|
rs1556096780
|
|
NM_004429.5(EFNB1):c.129-1G>T
|
rs2147976439
|
|
NM_004429.5(EFNB1):c.562_563del (p.Thr188fs)
|
rs1556107925
|
|
NM_004456.5(EZH2):c.1876G>A (p.Val626Met)
|
rs587783625
|
|
NM_004456.5(EZH2):c.2050C>T (p.Arg684Cys)
|
rs587783626
|
|
NM_004456.5(EZH2):c.2187dup (p.Asp730Ter)
|
rs797045568
|
|
NM_004484.4(GPC3):c.1159C>T (p.Arg387Ter)
|
rs122453121
|
|
NM_004523.4(KIF11):c.-1_2delinsAA (p.Met1fs)
|
rs797045649
|
|
NM_004523.4(KIF11):c.112del (p.His38fs)
|
rs1554859309
|
|
NM_004523.4(KIF11):c.2018dup (p.Glu674fs)
|
rs1589604288
|
|
NM_004523.4(KIF11):c.2105del (p.Lys702fs)
|
rs2135919274
|
|
NM_004523.4(KIF11):c.2160+1G>T
|
rs1554862218
|
|
NM_004523.4(KIF11):c.2548-1G>A
|
rs1554863016
|
|
NM_004523.4(KIF11):c.436A>T (p.Lys146Ter)
|
rs797045650
|
|
NM_004523.4(KIF11):c.699-7_705del
|
rs797045651
|
|
NM_004523.4(KIF11):c.868C>T (p.Gln290Ter)
|
rs1554859966
|
|
NM_004525.3(LRP2):c.11276del (p.Cys3759fs)
|
rs2105276037
|
|
NM_004586.3(RPS6KA3):c.1304_1307del (p.Val435fs)
|
rs797045920
|
|
NM_004586.3(RPS6KA3):c.212T>G (p.Leu71Ter)
|
rs2068650679
|
|
NM_004656.4(BAP1):c.1358_1359del (p.Lys453fs)
|
rs1351986946
|
|
NM_004656.4(BAP1):c.1717del (p.Leu573fs)
|
rs869025212
|
|
NM_004656.4(BAP1):c.178C>T (p.Arg60Ter)
|
rs1253151209
|
|
NM_004656.4(BAP1):c.79dup (p.Val27fs)
|
rs397509413
|
|
NM_004656.4(BAP1):c.830_831del (p.Gln277fs)
|
rs1327490224
|
|
NM_004782.4(SNAP29):c.354dup (p.Leu119fs)
|
rs751575036
|
|
NM_004826.4(ECEL1):c.110_155del (p.Phe37fs)
|
rs1341894581
|
|
NM_004826.4(ECEL1):c.509del (p.Gly170fs)
|
rs1553567937
|
|
NM_004836.7(EIF2AK3):c.1564_1565del (p.Trp522fs)
|
rs797045558
|
|
NM_004836.7(EIF2AK3):c.2758C>T (p.Gln920Ter)
|
rs1553407942
|
|
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp)
|
rs886039769
|
|
NM_004959.5(NR5A1):c.34_38delinsGACCTGGACCTGT (p.Leu12fs)
|
rs1554721883
|
|
NM_004959.5(NR5A1):c.958G>T (p.Glu320Ter)
|
rs2131279881
|
|
NM_004977.3(KCNC3):c.1259G>A (p.Arg420His)
|
rs104894699
|
|
NM_004977.3(KCNC3):c.1268G>A (p.Arg423His)
|
rs797044872
|
|
NM_004992.3(MECP2):c.1276_*113del299ins3
|
|
|
NM_004992.3(MECP2):c.763_1383del621ins15 (p.?)
|
|
|
NM_004992.3(MECP2):c.943_1140del198ins6
|
|
|
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)
|
rs587776934
|
|
NM_005045.4(RELN):c.329dup (p.Gly111fs)
|
rs797045912
|
|
NM_005045.4(RELN):c.3495G>A (p.Trp1165Ter)
|
rs2117254954
|
|
NM_005045.4(RELN):c.5193C>A (p.Tyr1731Ter)
|
rs587780435
|
|
NM_005045.4(RELN):c.5195_5208dup (p.Ile1737fs)
|
rs587780436
|
|
NM_005045.4(RELN):c.5587C>T (p.Gln1863Ter)
|
rs797045915
|
|
NM_005045.4(RELN):c.7490+1G>A
|
rs587780437
|
|
NM_005050.4(ABCD4):c.1125del (p.Trp377fs)
|
rs1440898011
|
|
NM_005105.5(RBM8A):c.128-2A>G
|
rs1313663918
|
|
NM_005249.5(FOXG1):c.135_136dup (p.Gln46fs)
|
rs587783629
|
|
NM_005249.5(FOXG1):c.170_179del (p.His57fs)
|
rs587783631
|
|
NM_005249.5(FOXG1):c.256C>T (p.Gln86Ter)
|
rs398124202
|
|
NM_005249.5(FOXG1):c.256del (p.Gln86fs)
|
rs786205001
|
|
NM_005249.5(FOXG1):c.263_278del (p.Arg88fs)
|
rs587783635
|
|
NM_005249.5(FOXG1):c.298del (p.Gln100fs)
|
rs587783636
|
|
NM_005249.5(FOXG1):c.460dup (p.Glu154fs)
|
rs398124204
|
|
NM_005249.5(FOXG1):c.505_506delinsC (p.Gly169fs)
|
rs786205003
|
|
NM_005249.5(FOXG1):c.505_506delinsT (p.Gly169fs)
|
rs786205003
|
|
NM_005249.5(FOXG1):c.590G>T (p.Ser197Ile)
|
rs1881802605
|
|
NM_005249.5(FOXG1):c.757A>G (p.Asn253Asp)
|
rs587783641
|
|
NM_005249.5(FOXG1):c.762C>G (p.Tyr254Ter)
|
rs587783642
|
|
NM_005249.5(FOXG1):c.765G>T (p.Trp255Cys)
|
rs121913678
|
|
NM_005257.6(GATA6):c.1087C>T (p.Gln363Ter)
|
rs797045593
|
|
NM_005271.5(GLUD1):c.1493C>T (p.Ser498Leu)
|
rs121909731
|
|
NM_005271.5(GLUD1):c.1496G>A (p.Gly499Asp)
|
rs121909734
|
|
NM_005271.5(GLUD1):c.820C>T (p.Arg274Cys)
|
rs56275071
|
|
NM_005271.5(GLUD1):c.965G>A (p.Arg322His)
|
rs121909737
|
|
NM_005373.3(MPL):c.1316_1320del (p.Glu439fs)
|
rs1292577132
|
|
NM_005373.3(MPL):c.189C>A (p.Tyr63Ter)
|
rs1373623383
|
|
NM_005373.3(MPL):c.313_316del (p.Phe105fs)
|
rs2153916498
|
|
NM_005373.3(MPL):c.367C>T (p.Arg123Ter)
|
rs1443655691
|
|
NM_005373.3(MPL):c.972del (p.Arg325fs)
|
rs770457041
|
|
NM_005515.4(MNX1):c.53dup (p.Arg19fs)
|
rs1554594329
|
|
NM_005515.4(MNX1):c.752del (p.Gln251fs)
|
rs2134840169
|
|
NM_005515.4(MNX1):c.874C>T (p.Arg292Trp)
|
rs2134838763
|
|
NM_005629.4(SLC6A8):c.1583del (p.Pro528fs)
|
rs1557045581
|
|
NM_005629.4(SLC6A8):c.974C>G (p.Thr325Arg)
|
rs797045972
|
|
NM_005676.5(RBM10):c.1249-1G>A
|
rs1556778986
|
|
NM_005732.4(RAD50):c.2165dup (p.Glu723fs)
|
rs397507178
|
|
NM_005850.5(SF3B4):c.1230_1249del (p.Pro411fs)
|
rs797045954
|
|
NM_005850.5(SF3B4):c.132del (p.Met44fs)
|
rs2101647663
|
|
NM_005850.5(SF3B4):c.193G>T (p.Glu65Ter)
|
rs797045955
|
|
NM_005850.5(SF3B4):c.45_46del (p.Tyr16fs)
|
rs797045956
|
|
NM_005850.5(SF3B4):c.731_743del (p.Pro244fs)
|
rs797045957
|
|
NM_005861.4(STUB1):c.646dup (p.Ser216fs)
|
rs1555475283
|
|
NM_005912.3(MC4R):c.206T>G (p.Ile69Arg)
|
rs751160202
|
|
NM_006005.3(WFS1):c.2369C>A (p.Ser790Ter)
|
rs369107336
|
|
NM_006005.3(WFS1):c.409_424dup (p.Val142fs)
|
rs1362648752
|
|
NM_006005.3(WFS1):c.873C>G (p.Tyr291Ter)
|
rs777580652
|
|
NM_006009.4(TUBA1A):c.1204C>T (p.Arg402Cys)
|
rs587784483
|
|
NM_006009.4(TUBA1A):c.1205G>A (p.Arg402His)
|
rs137853044
|
|
NM_006009.4(TUBA1A):c.1205G>T (p.Arg402Leu)
|
rs137853044
|
|
NM_006009.4(TUBA1A):c.1265G>A (p.Arg422His)
|
rs137853050
|
|
NM_006009.4(TUBA1A):c.481T>G (p.Tyr161Asp)
|
rs587784488
|
|
NM_006009.4(TUBA1A):c.790C>T (p.Arg264Cys)
|
rs137853043
|
|
NM_006009.4(TUBA1A):c.986A>G (p.Asn329Ser)
|
rs587784495
|
|
NM_006015.6(ARID1A):c.1397del (p.Gly466fs)
|
|
|
NM_006015.6(ARID1A):c.31_56del (p.Ser11fs)
|
rs797045262
|
|
NM_006015.6(ARID1A):c.394del (p.Val132fs)
|
rs797045263
|
|
NM_006015.6(ARID1A):c.5164C>T (p.Arg1722Ter)
|
rs1485978447
|
|
NM_006015.6(ARID1A):c.666C>G (p.Tyr222Ter)
|
rs757919500
|
|
NM_006015.6(ARID1A):c.921_940del (p.Tyr308fs)
|
rs1553146165
|
|
NM_006031.6(PCNT):c.1680-2A>G
|
rs1555954786
|
|
NM_006031.6(PCNT):c.1714_1717del (p.Lys572fs)
|
rs797045875
|
|
NM_006031.6(PCNT):c.1975dup (p.Asp659fs)
|
rs1555956600
|
|
NM_006031.6(PCNT):c.2984_2994del (p.Ala995fs)
|
rs587784302
|
|
NM_006031.6(PCNT):c.3058A>T (p.Lys1020Ter)
|
rs1555962301
|
|
NM_006031.6(PCNT):c.4004-2A>G
|
rs2147305680
|
|
NM_006031.6(PCNT):c.4938_4939del (p.Arg1646fs)
|
rs797045879
|
|
NM_006031.6(PCNT):c.5020G>T (p.Glu1674Ter)
|
rs587784308
|
|
NM_006031.6(PCNT):c.5482G>T (p.Glu1828Ter)
|
rs1315359733
|
|
NM_006031.6(PCNT):c.5578G>T (p.Glu1860Ter)
|
rs369195346
|
|
NM_006031.6(PCNT):c.5727_5736del (p.Leu1910fs)
|
rs587784312
|
|
NM_006031.6(PCNT):c.7796del (p.Leu2599fs)
|
rs587784319
|
|
NM_006060.6(IKZF1):c.247C>T (p.Arg83Ter)
|
rs2153469119
|
|
NM_006080.3(SEMA3A):c.1663C>T (p.Arg555Ter)
|
rs747485179
|
|
NM_006086.4(TUBB3):c.1228G>A (p.Glu410Lys)
|
rs267607165
|
|
NM_006086.4(TUBB3):c.613G>A (p.Glu205Lys)
|
rs878853257
|
|
NM_006265.3(RAD21):c.181_182dup (p.Gly62fs)
|
rs1554612096
|
|
NM_006265.3(RAD21):c.56_62del (p.Leu19fs)
|
rs797045907
|
|
NM_006265.3(RAD21):c.579dup (p.Glu194fs)
|
rs797045908
|
|
NM_006265.3(RAD21):c.592_593dup (p.Ser198fs)
|
rs797045909
|
|
NM_006306.4(SMC1A):c.1193G>A (p.Arg398Gln)
|
rs587784403
|
|
NM_006306.4(SMC1A):c.2131C>T (p.Arg711Trp)
|
rs587784409
|
|
NM_006306.4(SMC1A):c.2368C>T (p.Arg790Trp)
|
rs587784412
|
|
NM_006306.4(SMC1A):c.2369G>A (p.Arg790Gln)
|
rs797045993
|
|
NM_006306.4(SMC1A):c.3254A>G (p.Tyr1085Cys)
|
rs587784418
|
|
NM_006306.4(SMC1A):c.547C>T (p.Gln183Ter)
|
rs587784421
|
|
NM_006306.4(SMC1A):c.586C>T (p.Arg196Cys)
|
rs587784422
|
|
NM_006306.4(SMC1A):c.616-2A>G
|
rs587784423
|
|
NM_006306.4(SMC1A):c.796AAG[2] (p.Lys268del)
|
rs727503773
|
|
NM_006412.4(AGPAT2):c.335del (p.Pro112fs)
|
rs1588263957
|
|
NM_006420.3(ARFGEF2):c.2638_2639delinsT (p.Pro880fs)
|
rs1555811929
|
|
NM_006493.4(CLN5):c.510_514dup (p.Asp172fs)
|
rs1555274005
|
|
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer)
|
rs587780315
|
|
NM_006516.2(SLC2A1):c.19_28delAAGCTGACGG (p.Lys7Valfs)
|
rs587784393
|
|
NM_006516.4(SLC2A1):c.1089del (p.Pro362_Trp363insTer)
|
rs587784391
|
|
NM_006516.4(SLC2A1):c.377G>A (p.Arg126His)
|
rs80359816
|
|
NM_006516.4(SLC2A1):c.49G>T (p.Gly17Ter)
|
rs1345986424
|
|
NM_006516.4(SLC2A1):c.739G>T (p.Glu247Ter)
|
rs2124449015
|
|
NM_006516.4(SLC2A1):c.748C>T (p.Gln250Ter)
|
rs587784396
|
|
NM_006516.4(SLC2A1):c.823G>A (p.Ala275Thr)
|
rs121909740
|
|
NM_006516.4(SLC2A1):c.847C>T (p.Gln283Ter)
|
rs587784397
|
|
NM_006516.4(SLC2A1):c.884C>T (p.Thr295Met)
|
rs80359823
|
|
NM_006517.5(SLC16A2):c.1026+1G>T
|
rs1555989729
|
|
NM_006517.5(SLC16A2):c.1392dup (p.Ile465fs)
|
rs797045962
|
|
NM_006517.5(SLC16A2):c.1474_1481del (p.Val492fs)
|
rs797045963
|
|
NM_006517.5(SLC16A2):c.256del (p.Arg86fs)
|
rs797045965
|
|
NM_006517.5(SLC16A2):c.277C>T (p.Gln93Ter)
|
rs587784386
|
|
NM_006517.5(SLC16A2):c.374del (p.Tyr125fs)
|
rs797045966
|
|
NM_006517.5(SLC16A2):c.532del (p.Ala178fs)
|
rs1555989375
|
|
NM_006517.5(SLC16A2):c.850del (p.Leu284fs)
|
rs2147870613
|
|
NM_006517.5(SLC16A2):c.916C>T (p.Gln306Ter)
|
rs587784382
|
|
NM_006517.5(SLC16A2):c.940C>T (p.Arg314Ter)
|
rs766773277
|
|
NM_006579.3(EBP):c.141G>T (p.Trp47Cys)
|
rs587783599
|
|
NM_006579.3(EBP):c.182G>A (p.Trp61Ter)
|
rs587783600
|
|
NM_006579.3(EBP):c.225dup (p.His76fs)
|
rs797045543
|
|
NM_006579.3(EBP):c.238G>A (p.Glu80Lys)
|
rs104894800
|
|
NM_006579.3(EBP):c.292_296del (p.Ser98fs)
|
rs587783604
|
|
NM_006579.3(EBP):c.301+2T>A
|
rs587783606
|
|
NM_006579.3(EBP):c.304A>T (p.Lys102Ter)
|
rs587783608
|
|
NM_006579.3(EBP):c.310T>C (p.Tyr104His)
|
rs587783609
|
|
NM_006579.3(EBP):c.328C>T (p.Arg110Ter)
|
rs587783613
|
|
NM_006579.3(EBP):c.329_332dup (p.Tyr111Ter)
|
rs797045544
|
|
NM_006579.3(EBP):c.423_427delinsT (p.Arg142fs)
|
rs797045546
|
|
NM_006579.3(EBP):c.440G>A (p.Arg147His)
|
rs28935174
|
|
NM_006579.3(EBP):c.464_465del (p.Ser155fs)
|
rs587783615
|
|
NM_006579.3(EBP):c.480T>G (p.Tyr160Ter)
|
rs587783616
|
|
NM_006579.3(EBP):c.484dup (p.Asp162fs)
|
rs797045547
|
|
NM_006642.5(SDCCAG8):c.221-2A>G
|
rs797045946
|
|
NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter)
|
rs797045948
|
|
NM_006662.3(SRCAP):c.7330C>T (p.Arg2444Ter)
|
rs199469464
|
|
NM_006662.3(SRCAP):c.7382del (p.Pro2461fs)
|
rs2151300137
|
|
NM_006662.3(SRCAP):c.7993C>T (p.Gln2665Ter)
|
rs587784444
|
|
NM_006757.4(TNNT3):c.187C>T (p.Arg63Cys)
|
rs199474721
|
|
NM_006757.4(TNNT3):c.188G>A (p.Arg63His)
|
rs121434638
|
|
NM_006767.4(LZTR1):c.791+1G>A
|
rs148031742
|
|
NM_006772.3(SYNGAP1):c.1576del (p.Glu525_Val526insTer)
|
rs797046028
|
|
NM_006772.3(SYNGAP1):c.1783del (p.Leu595fs)
|
rs587780470
|
|
NM_006772.3(SYNGAP1):c.2066_2071delinsC (p.Leu689fs)
|
rs797046029
|
|
NM_006772.3(SYNGAP1):c.2602del (p.Asp868fs)
|
rs587780474
|
|
NM_006772.3(SYNGAP1):c.2899C>T (p.Arg967Ter)
|
rs749188610
|
|
NM_006772.3(SYNGAP1):c.333del (p.Lys114fs)
|
rs1131691979
|
|
NM_006772.3(SYNGAP1):c.3592del (p.Tyr1198fs)
|
rs797046030
|
|
NM_006772.3(SYNGAP1):c.427C>T (p.Arg143Ter)
|
rs397514741
|
|
NM_006772.3(SYNGAP1):c.762+1G>T
|
rs797046031
|
|
NM_006908.5(RAC1):c.151G>A (p.Val51Met)
|
rs1554263625
|
|
NM_006946.4(SPTBN2):c.1596_1634del (p.Glu532_Met544del)
|
rs1554985851
|
|
NM_007055.4(POLR3A):c.3243-1G>A
|
rs1554837782
|
|
NM_007129.5(ZIC2):c.1085_1131del (p.Pro362fs)
|
rs1555332362
|
|
NM_007194.4(CHEK2):c.1263del (p.Ser422fs)
|
rs587780174
|
|
NM_007194.4(CHEK2):c.277del (p.Trp93fs)
|
rs786203458
|
|
NM_007214.5(SEC63):c.733+1G>A
|
rs886041028
|
|
NM_007254.4(PNKP):c.1253_1269dup (p.Thr424fs)
|
rs587784365
|
|
NM_007254.4(PNKP):c.1295_1298+6del
|
rs587784366
|
|
NM_007254.4(PNKP):c.1386+49_1387-33del
|
rs752902474
|
|
NM_007294.4(BRCA1):c.1175_1214del (p.Leu392fs)
|
rs80359874
|
|
NM_007294.4(BRCA1):c.1204del (p.Glu402fs)
|
rs80357859
|
|
NM_007294.4(BRCA1):c.1255del (p.Glu418_Val419insTer)
|
rs80357535
|
|
NM_007294.4(BRCA1):c.1953_1956del (p.Lys653fs)
|
rs80357526
|
|
NM_007294.4(BRCA1):c.2071del (p.Arg691fs)
|
rs80357688
|
|
NM_007294.4(BRCA1):c.2681_2682del (p.Lys894fs)
|
rs80357971
|
|
NM_007294.4(BRCA1):c.3481_3491del (p.Glu1161fs)
|
rs80357877
|
|
NM_007294.4(BRCA1):c.427G>T (p.Glu143Ter)
|
rs80356991
|
|
NM_007294.4(BRCA1):c.4327C>T (p.Arg1443Ter)
|
rs41293455
|
|
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs)
|
rs80357906
|
|
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs)
|
rs80357914
|
|
NM_007294.4(BRCA1):c.69_79delGTGTCCCATCT (p.Cys24fs)
|
rs80357696
|
|
NM_012210.4(TRIM32):c.196_205del (p.Lys66fs)
|
rs1554732623
|
|
NM_012233.3(RAB3GAP1):c.2642T>G (p.Leu881Ter)
|
rs797045905
|
|
NM_012233.3(RAB3GAP1):c.630_631insC (p.Ile211fs)
|
rs1064794536
|
|
NM_012414.4(RAB3GAP2):c.2207dup (p.Leu737fs)
|
rs1553275687
|
|
NM_013275.6(ANKRD11):c.2464C>T (p.Gln822Ter)
|
rs2151759808
|
|
NM_013275.6(ANKRD11):c.3632_3633del (p.Lys1211fs)
|
rs1555528400
|
|
NM_013275.6(ANKRD11):c.6670G>T (p.Glu2224Ter)
|
rs1381957912
|
|
NM_013275.6(ANKRD11):c.6982dup (p.Arg2328fs)
|
rs1555525088
|
|
NM_013382.7(POMT2):c.1577-5_1577-1delinsTGA
|
rs797045898
|
|
NM_013382.7(POMT2):c.678del (p.Trp226fs)
|
rs755660222
|
|
NM_014009.4(FOXP3):c.727del (p.Glu243fs)
|
rs797045588
|
|
NM_014321.4(ORC6):c.1A>G (p.Met1Val)
|
rs777153067
|
|
NM_014363.6(SACS):c.13527dup (p.Glu4510fs)
|
rs797045936
|
|
NM_014363.6(SACS):c.1919_1920del (p.His640fs)
|
rs797045937
|
|
NM_014363.6(SACS):c.262C>T (p.Arg88Ter)
|
rs1555255676
|
|
NM_014363.6(SACS):c.8793dup (p.Arg2932fs)
|
rs767871841
|
|
NM_014795.4(ZEB2):c.1027C>T (p.Arg343Ter)
|
rs786204815
|
|
NM_014795.4(ZEB2):c.1106T>A (p.Leu369Ter)
|
rs797046117
|
|
NM_014795.4(ZEB2):c.1426dup (p.Met476fs)
|
rs587776604
|
|
NM_014795.4(ZEB2):c.1489C>T (p.Gln497Ter)
|
rs1553961702
|
|
NM_014795.4(ZEB2):c.1956C>A (p.Tyr652Ter)
|
rs587784563
|
|
NM_014795.4(ZEB2):c.2061del (p.Phe687fs)
|
rs797046118
|
|
NM_014795.4(ZEB2):c.2072G>A (p.Trp691Ter)
|
rs1553961610
|
|
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter)
|
rs137852981
|
|
NM_014795.4(ZEB2):c.2404_2407del (p.Thr802fs)
|
rs797046119
|
|
NM_014795.4(ZEB2):c.2501del (p.Lys834fs)
|
rs587784565
|
|
NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter)
|
rs587784566
|
|
NM_014795.4(ZEB2):c.2894T>A (p.Leu965Ter)
|
rs797046120
|
|
NM_014795.4(ZEB2):c.3109A>T (p.Lys1037Ter)
|
rs1553960793
|
|
NM_014795.4(ZEB2):c.3137C>A (p.Ser1046Ter)
|
rs797046121
|
|
NM_014795.4(ZEB2):c.550_568del (p.Ser184fs)
|
rs587784568
|
|
NM_014795.4(ZEB2):c.674C>A (p.Ser225Ter)
|
rs797046122
|
|
NM_014795.4(ZEB2):c.823C>T (p.Gln275Ter)
|
rs587784570
|
|
NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter)
|
rs587784571
|
|
NM_014946.4(SPAST):c.1250G>A (p.Gly417Glu)
|
rs1553318161
|
|
NM_015046.7(SETX):c.5821_5830del (p.Ala1941fs)
|
rs797045067
|
|
NM_015166.4(MLC1):c.639dup (p.Ile214fs)
|
rs1449444164
|
|
NM_015175.3(NBEAL2):c.1793G>A (p.Trp598Ter)
|
rs1553659758
|
|
NM_015175.3(NBEAL2):c.4081G>T (p.Glu1361Ter)
|
rs1553663498
|
|
NM_015378.4(VPS13D):c.3316C>T (p.Gln1106Ter)
|
rs1557680710
|
|
NM_015559.3(SETBP1):c.1821del (p.Ser608fs)
|
rs797045952
|
|
NM_015559.3(SETBP1):c.2608G>A (p.Gly870Ser)
|
rs267607040
|
|
NM_015702.3(MMADHC):c.748C>T (p.Arg250Ter)
|
rs118204048
|
|
NM_015922.3(NSDHL):c.1038_1041dup (p.Gly348fs)
|
rs797045835
|
|
NM_015922.3(NSDHL):c.757C>T (p.Gln253Ter)
|
rs141571609
|
|
NM_015922.3(NSDHL):c.904del (p.Tyr302fs)
|
rs587784225
|
|
NM_015922.3(NSDHL):c.906C>A (p.Tyr302Ter)
|
rs587784226
|
|
NM_016038.4(SBDS):c.120del (p.Ser41fs)
|
rs113993990
|
|
NM_016038.4(SBDS):c.183_184delinsCT (p.Lys62Ter)
|
rs113993991
|
|
NM_016038.4(SBDS):c.624+1G>C
|
rs113993997
|
|
NM_016042.4(EXOSC3):c.112del (p.Glu38fs)
|
rs587780333
|
|
NM_016042.4(EXOSC3):c.155del (p.Pro52fs)
|
rs886041316
|
|
NM_016180.5(SLC45A2):c.1076_1077del (p.Glu359fs)
|
rs753485165
|
|
NM_016180.5(SLC45A2):c.1166_1167del (p.Lys389fs)
|
rs896495198
|
|
NM_016180.5(SLC45A2):c.1368+1G>T
|
rs1294369944
|
|
NM_016180.5(SLC45A2):c.210C>A (p.Tyr70Ter)
|
rs562624441
|
|
NM_016180.5(SLC45A2):c.986del (p.Thr329fs)
|
rs387906317
|
|
NM_016222.4(DDX41):c.1108C>T (p.Gln370Ter)
|
rs2127436444
|
|
NM_016222.4(DDX41):c.1141A>T (p.Lys381Ter)
|
rs144057590
|
|
NM_016222.4(DDX41):c.1142dup (p.Ile382fs)
|
rs1554111073
|
|
NM_016222.4(DDX41):c.1285C>T (p.Gln429Ter)
|
rs2127436241
|
|
NM_016222.4(DDX41):c.1394del (p.Gly465fs)
|
rs759501764
|
|
NM_016222.4(DDX41):c.1496dup (p.Ala500fs)
|
rs753425379
|
|
NM_016222.4(DDX41):c.232_233insAA (p.Pro78fs)
|
rs1554111683
|
|
NM_016222.4(DDX41):c.305_306del (p.Lys102fs)
|
rs760059747
|
|
NM_016222.4(DDX41):c.323del (p.Lys108fs)
|
rs1554111653
|
|
NM_016222.4(DDX41):c.986del (p.Gln329fs)
|
rs1291520734
|
|
NM_016239.4(MYO15A):c.7124_7127del (p.Asp2375fs)
|
rs780170125
|
|
NM_016648.4(LARP7):c.802_1142+267del
|
rs1554011754
|
|
NM_017668.3(NDE1):c.658C>T (p.Arg220Ter)
|
rs576928842
|
|
NM_017668.3(NDE1):c.83+1G>T
|
rs1456594953
|
|
NM_017739.4(POMGNT1):c.1413+1G>C
|
rs587777821
|
|
NM_017775.4(TTC19):c.817G>T (p.Glu273Ter)
|
rs1555530551
|
|
NM_017777.4(MKS1):c.1408-1dup
|
rs762668200
|
|
NM_017777.4(MKS1):c.1408-34_1408-6del
|
rs386834043
|
|
NM_017780.4(CHD7):c.1246G>T (p.Gly416Ter)
|
rs587783428
|
|
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter)
|
rs587783429
|
|
NM_017780.4(CHD7):c.1678dup (p.Glu560fs)
|
rs797045461
|
|
NM_017780.4(CHD7):c.191_194del (p.Thr64fs)
|
rs587783431
|
|
NM_017780.4(CHD7):c.2502_2509dup (p.His837fs)
|
rs797045463
|
|
NM_017780.4(CHD7):c.2613+1G>A
|
rs587783432
|
|
NM_017780.4(CHD7):c.2642dup (p.Tyr881Ter)
|
rs797045465
|
|
NM_017780.4(CHD7):c.2643T>G (p.Tyr881Ter)
|
rs587783433
|
|
NM_017780.4(CHD7):c.2815G>T (p.Glu939Ter)
|
rs587783434
|
|
NM_017780.4(CHD7):c.2905_2906del (p.Arg969fs)
|
rs587783436
|
|
NM_017780.4(CHD7):c.3205C>T (p.Arg1069Ter)
|
rs886040985
|
|
NM_017780.4(CHD7):c.4318C>T (p.Gln1440Ter)
|
rs587783440
|
|
NM_017780.4(CHD7):c.4480C>T (p.Arg1494Ter)
|
rs587783442
|
|
NM_017780.4(CHD7):c.4634del (p.Ala1544_Leu1545insTer)
|
rs587783443
|
|
NM_017780.4(CHD7):c.5023C>T (p.Gln1675Ter)
|
rs797045467
|
|
NM_017780.4(CHD7):c.528dup (p.Pro177fs)
|
rs797045468
|
|
NM_017780.4(CHD7):c.5458C>T (p.Arg1820Ter)
|
rs587783446
|
|
NM_017780.4(CHD7):c.5551G>T (p.Glu1851Ter)
|
rs587783447
|
|
NM_017780.4(CHD7):c.5638dup (p.Glu1880fs)
|
rs797045469
|
|
NM_017780.4(CHD7):c.5666-2A>C
|
rs587783448
|
|
NM_017780.4(CHD7):c.6102_6103dup (p.Glu2035fs)
|
rs2150809140
|
|
NM_017780.4(CHD7):c.6157C>T (p.Arg2053Ter)
|
rs587783450
|
|
NM_017780.4(CHD7):c.6446del (p.Gly2149fs)
|
rs797045470
|
|
NM_017780.4(CHD7):c.6526del (p.Glu2176fs)
|
rs797045471
|
|
NM_017780.4(CHD7):c.6825dup (p.Met2276fs)
|
rs797045472
|
|
NM_017780.4(CHD7):c.6850C>T (p.Arg2284Ter)
|
rs587783454
|
|
NM_017780.4(CHD7):c.7252C>T (p.Arg2418Ter)
|
rs587783455
|
|
NM_017780.4(CHD7):c.7384_7387del (p.Ser2462fs)
|
rs587783456
|
|
NM_017780.4(CHD7):c.7891C>T (p.Arg2631Ter)
|
rs587783457
|
|
NM_017780.4(CHD7):c.7940_7941dup (p.Pro2648fs)
|
rs797045473
|
|
NM_017780.4(CHD7):c.7957C>T (p.Arg2653Ter)
|
rs587783458
|
|
NM_017780.4(CHD7):c.8055G>A (p.Trp2685Ter)
|
rs587783459
|
|
NM_017780.4(CHD7):c.8962dup (p.Asp2988fs)
|
rs771806027
|
|
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del)
|
rs768422260
|
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
|
NM_018075.5(ANO10):c.132dup (p.Asp45fs)
|
rs540331226
|
|
NM_018075.5(ANO10):c.1669-2A>T
|
rs797045240
|
|
NM_018075.5(ANO10):c.306C>A (p.Tyr102Ter)
|
rs1210764379
|
|
NM_018075.5(ANO10):c.96del (p.Glu33fs)
|
rs758937084
|
|
NM_018105.3(THAP1):c.77C>T (p.Pro26Leu)
|
rs1802674870
|
|
NM_018136.5(ASPM):c.1138C>T (p.Gln380Ter)
|
rs587783215
|
|
NM_018136.5(ASPM):c.1154_1155del (p.Glu385fs)
|
rs199422137
|
|
NM_018136.5(ASPM):c.117_118del (p.Leu41fs)
|
rs587783216
|
|
NM_018136.5(ASPM):c.1726_1729del (p.Lys576fs)
|
rs587783221
|
|
NM_018136.5(ASPM):c.1798_1801del (p.Lys600fs)
|
rs1553227645
|
|
NM_018136.5(ASPM):c.1959_1962del (p.Asn653fs)
|
rs199422147
|
|
NM_018136.5(ASPM):c.2936dup (p.Arg980fs)
|
rs797045311
|
|
NM_018136.5(ASPM):c.2968del (p.Asp990fs)
|
rs587783228
|
|
NM_018136.5(ASPM):c.297+1G>C
|
rs1553228275
|
|
NM_018136.5(ASPM):c.3327T>G (p.Tyr1109Ter)
|
rs587783230
|
|
NM_018136.5(ASPM):c.3390+3_3390+6del
|
rs797045313
|
|
NM_018136.5(ASPM):c.3506_3507del (p.Val1169fs)
|
rs769818500
|
|
NM_018136.5(ASPM):c.3710C>G (p.Ser1237Ter)
|
rs199422159
|
|
NM_018136.5(ASPM):c.3830G>A (p.Trp1277Ter)
|
rs587783238
|
|
NM_018136.5(ASPM):c.3853_3854del (p.Asp1285fs)
|
rs587783239
|
|
NM_018136.5(ASPM):c.3945_3946del (p.Arg1315fs)
|
rs587783240
|
|
NM_018136.5(ASPM):c.4363G>T (p.Glu1455Ter)
|
rs1057520873
|
|
NM_018136.5(ASPM):c.4381C>T (p.Gln1461Ter)
|
rs2125096695
|
|
NM_018136.5(ASPM):c.4728_4729del (p.Arg1576fs)
|
rs587783245
|
|
NM_018136.5(ASPM):c.4795C>T (p.Arg1599Ter)
|
rs199422165
|
|
NM_018136.5(ASPM):c.5196T>A (p.Cys1732Ter)
|
rs587783247
|
|
NM_018136.5(ASPM):c.5233C>T (p.Arg1745Ter)
|
rs587783248
|
|
NM_018136.5(ASPM):c.6082C>T (p.Gln2028Ter)
|
rs1553223496
|
|
NM_018136.5(ASPM):c.6189T>G (p.Tyr2063Ter)
|
rs137852997
|
|
NM_018136.5(ASPM):c.637del (p.Ile213fs)
|
rs587783258
|
|
NM_018136.5(ASPM):c.6852_6855del (p.Leu2285fs)
|
rs587783259
|
|
NM_018136.5(ASPM):c.7125_7128dup (p.Gln2377fs)
|
rs587783263
|
|
NM_018136.5(ASPM):c.7160_7161del (p.Ser2387fs)
|
rs587783265
|
|
NM_018136.5(ASPM):c.7308dup (p.Val2437fs)
|
rs797045315
|
|
NM_018136.5(ASPM):c.7612C>T (p.Gln2538Ter)
|
rs587783268
|
|
NM_018136.5(ASPM):c.7665del (p.Ala2556fs)
|
rs587783269
|
|
NM_018136.5(ASPM):c.7782_7783del (p.Lys2595fs)
|
rs199422173
|
|
NM_018136.5(ASPM):c.7825C>T (p.Gln2609Ter)
|
rs587783272
|
|
NM_018136.5(ASPM):c.7857dup (p.Gln2620fs)
|
rs797045316
|
|
NM_018136.5(ASPM):c.803_804del (p.Lys268fs)
|
rs587783277
|
|
NM_018136.5(ASPM):c.8133_8136del (p.Lys2712fs)
|
rs587783278
|
|
NM_018136.5(ASPM):c.8266C>T (p.Gln2756Ter)
|
rs763909256
|
|
NM_018136.5(ASPM):c.8506_8507del (p.Gln2836fs)
|
rs587783280
|
|
NM_018136.5(ASPM):c.8704C>T (p.Gln2902Ter)
|
rs587783282
|
|
NM_018136.5(ASPM):c.8903G>A (p.Trp2968Ter)
|
rs587783285
|
|
NM_018136.5(ASPM):c.9091C>T (p.Arg3031Ter)
|
rs587783287
|
|
NM_018136.5(ASPM):c.9104T>A (p.Leu3035Ter)
|
rs587783288
|
|
NM_018136.5(ASPM):c.9309_9310del (p.Arg3103fs)
|
rs587783289
|
|
NM_018136.5(ASPM):c.9557C>G (p.Ser3186Ter)
|
rs199422189
|
|
NM_018249.6(CDK5RAP2):c.1018del (p.Glu340fs)
|
rs797045441
|
|
NM_018249.6(CDK5RAP2):c.4207C>T (p.Arg1403Ter)
|
rs754282058
|
|
NM_018368.4(LMBRD1):c.515_516del (p.Thr172fs)
|
rs779151199
|
|
NM_018451.5(CENPJ):c.1339A>T (p.Lys447Ter)
|
rs797045447
|
|
NM_018451.5(CENPJ):c.1404_1407del (p.Ser469fs)
|
rs777893196
|
|
NM_018451.5(CENPJ):c.1850_1851del (p.Pro617fs)
|
rs797045448
|
|
NM_018451.5(CENPJ):c.1882del (p.Ala628fs)
|
rs797045449
|
|
NM_018451.5(CENPJ):c.3007dup (p.Ile1003fs)
|
rs797045452
|
|
NM_018451.5(CENPJ):c.898_899del (p.Glu300fs)
|
rs797045454
|
|
NM_018486.3(HDAC8):c.131del (p.Ser43_Leu44insTer)
|
rs587783663
|
|
NM_018486.3(HDAC8):c.134_137del (p.Ile45fs)
|
rs797045610
|
|
NM_018486.3(HDAC8):c.229C>T (p.Gln77Ter)
|
rs797045611
|
|
NM_018668.5(VPS33B):c.1498G>T (p.Glu500Ter)
|
rs751858602
|
|
NM_018896.5(CACNA1G):c.5144G>A (p.Arg1715His)
|
rs755221106
|
|
NM_020184.4(CNNM4):c.1555C>T (p.Arg519Ter)
|
rs1455470131
|
|
NM_020247.5(COQ8A):c.1334_1335del (p.Thr445fs)
|
rs797045217
|
|
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del)
|
rs387906299
|
|
NM_020320.5(RARS2):c.1246G>T (p.Glu416Ter)
|
rs143076225
|
|
NM_020320.5(RARS2):c.1A>T (p.Met1Leu)
|
rs774923951
|
|
NM_020451.3(SELENON):c.-11_81del (p.Met1fs)
|
rs1557813850
|
|
NM_020547.3(AMHR2):c.1216C>T (p.Arg406Ter)
|
rs769617823
|
|
NM_020547.3(AMHR2):c.3G>A (p.Met1Ile)
|
rs2136937857
|
|
NM_020699.4(GATAD2B):c.1429C>T (p.Gln477Ter)
|
rs1553187443
|
|
NM_020699.4(GATAD2B):c.535C>T (p.Arg179Ter)
|
rs1553188463
|
|
NM_020699.4(GATAD2B):c.981del (p.Thr328fs)
|
rs797045594
|
|
NM_020822.3(KCNT1):c.1283G>A (p.Arg428Gln)
|
|
|
NM_020999.4(NEUROG3):c.162C>A (p.Cys54Ter)
|
rs1461650439
|
|
NM_022455.4(NSD1):c.(?_-138)_(7458_?)del
|
|
|
NM_022455.4(NSD1):c.5408_5411delACTAins9
|
|
|
NM_022455.5(NSD1):c.1077del (p.Arg359fs)
|
rs587784068
|
|
NM_022455.5(NSD1):c.1262G>A (p.Trp421Ter)
|
rs587784071
|
|
NM_022455.5(NSD1):c.1264dup (p.Glu422fs)
|
rs797045804
|
|
NM_022455.5(NSD1):c.1456del (p.Ser486fs)
|
rs587784073
|
|
NM_022455.5(NSD1):c.1802dup (p.Cys602fs)
|
rs797045805
|
|
NM_022455.5(NSD1):c.1810C>T (p.Arg604Ter)
|
rs587784076
|
|
NM_022455.5(NSD1):c.1831C>T (p.Arg611Ter)
|
rs587784077
|
|
NM_022455.5(NSD1):c.2014_2018del (p.Thr672fs)
|
rs587784078
|
|
NM_022455.5(NSD1):c.2048del (p.Lys683fs)
|
rs587784079
|
|
NM_022455.5(NSD1):c.2049_2053del (p.Ile684fs)
|
rs587784080
|
|
NM_022455.5(NSD1):c.2064del (p.Arg688fs)
|
rs587784081
|
|
NM_022455.5(NSD1):c.2124_2127del (p.His708fs)
|
rs587784082
|
|
NM_022455.5(NSD1):c.2167dup (p.Thr723fs)
|
rs797045807
|
|
NM_022455.5(NSD1):c.2190_2191delinsG (p.Ser731fs)
|
rs797045808
|
|
NM_022455.5(NSD1):c.2276C>G (p.Ser759Ter)
|
rs587784084
|
|
NM_022455.5(NSD1):c.2295del (p.Ser766fs)
|
rs587784085
|
|
NM_022455.5(NSD1):c.2339C>A (p.Ser780Ter)
|
rs201327209
|
|
NM_022455.5(NSD1):c.2386_2389del (p.Glu796fs)
|
rs587784086
|
|
NM_022455.5(NSD1):c.2639del (p.Gly880fs)
|
rs587784087
|
|
NM_022455.5(NSD1):c.2654C>A (p.Ser885Ter)
|
rs587784088
|
|
NM_022455.5(NSD1):c.2808C>A (p.Tyr936Ter)
|
rs2149846283
|
|
NM_022455.5(NSD1):c.2827del (p.Asp943fs)
|
rs587784089
|
|
NM_022455.5(NSD1):c.2859dup (p.Lys954Ter)
|
rs797045809
|
|
NM_022455.5(NSD1):c.2954_2955del (p.Ser985fs)
|
rs587784092
|
|
NM_022455.5(NSD1):c.2956del (p.Ala986fs)
|
rs587784093
|
|
NM_022455.5(NSD1):c.3004_3005del (p.Lys1002fs)
|
rs1554189941
|
|
NM_022455.5(NSD1):c.3046_3047del (p.Val1016fs)
|
rs587784094
|
|
NM_022455.5(NSD1):c.3067C>T (p.Arg1023Ter)
|
rs587784095
|
|
NM_022455.5(NSD1):c.3091C>T (p.Arg1031Ter)
|
rs587784096
|
|
NM_022455.5(NSD1):c.3146dup (p.Thr1050fs)
|
rs797045810
|
|
NM_022455.5(NSD1):c.3185_3186del (p.Val1062fs)
|
rs587784097
|
|
NM_022455.5(NSD1):c.3214C>T (p.Arg1072Ter)
|
rs587784098
|
|
NM_022455.5(NSD1):c.3260_3266del (p.Lys1087fs)
|
rs797045811
|
|
NM_022455.5(NSD1):c.3293del (p.Thr1098fs)
|
rs587784099
|
|
NM_022455.5(NSD1):c.3295del (p.Ser1099fs)
|
rs587784100
|
|
NM_022455.5(NSD1):c.3316dup (p.Ser1106fs)
|
rs797045812
|
|
NM_022455.5(NSD1):c.3383_3384del (p.Ser1128fs)
|
rs587784101
|
|
NM_022455.5(NSD1):c.3549dup (p.Glu1184Ter)
|
rs797045813
|
|
NM_022455.5(NSD1):c.3578_3582del (p.Ser1193fs)
|
rs587784103
|
|
NM_022455.5(NSD1):c.3578dup (p.Ser1193fs)
|
rs797045814
|
|
NM_022455.5(NSD1):c.3659_3660del (p.Glu1220fs)
|
rs587784104
|
|
NM_022455.5(NSD1):c.3839G>A (p.Trp1280Ter)
|
rs587784105
|
|
NM_022455.5(NSD1):c.3922-2_3925delinsG
|
rs1554195815
|
|
NM_022455.5(NSD1):c.3939dup (p.Glu1314fs)
|
rs797045815
|
|
NM_022455.5(NSD1):c.3958C>T (p.Arg1320Ter)
|
rs121908070
|
|
NM_022455.5(NSD1):c.3964C>T (p.Arg1322Ter)
|
rs587784107
|
|
NM_022455.5(NSD1):c.4020del (p.Glu1341fs)
|
rs797045816
|
|
NM_022455.5(NSD1):c.4057G>T (p.Glu1353Ter)
|
rs587784109
|
|
NM_022455.5(NSD1):c.4076C>G (p.Ser1359Ter)
|
rs587784110
|
|
NM_022455.5(NSD1):c.4192+2T>G
|
rs587784111
|
|
NM_022455.5(NSD1):c.4282dup (p.Asp1428fs)
|
rs797045817
|
|
NM_022455.5(NSD1):c.4301del (p.Lys1434fs)
|
rs587784112
|
|
NM_022455.5(NSD1):c.4301dup (p.Cys1435fs)
|
rs587784112
|
|
NM_022455.5(NSD1):c.4376del (p.Gly1459fs)
|
rs587784114
|
|
NM_022455.5(NSD1):c.4378+1G>A
|
rs587784115
|
|
NM_022455.5(NSD1):c.4411C>T (p.Arg1471Ter)
|
rs570278338
|
|
NM_022455.5(NSD1):c.4417C>T (p.Arg1473Ter)
|
rs587784117
|
|
NM_022455.5(NSD1):c.4444C>T (p.Gln1482Ter)
|
rs587784118
|
|
NM_022455.5(NSD1):c.4479_4488dup (p.Gly1497fs)
|
rs797045819
|
|
NM_022455.5(NSD1):c.4493C>G (p.Ser1498Ter)
|
rs587784119
|
|
NM_022455.5(NSD1):c.4498-3A>G
|
rs587784120
|
|
NM_022455.5(NSD1):c.4529del (p.Ser1510fs)
|
rs587784121
|
|
NM_022455.5(NSD1):c.4681C>T (p.Gln1561Ter)
|
rs587784122
|
|
NM_022455.5(NSD1):c.4705del (p.Glu1569fs)
|
rs587784123
|
|
NM_022455.5(NSD1):c.4731_4732del (p.Gly1579fs)
|
rs587784124
|
|
NM_022455.5(NSD1):c.4732dup (p.Arg1578fs)
|
rs797045820
|
|
NM_022455.5(NSD1):c.4745del (p.Ile1582fs)
|
rs587784125
|
|
NM_022455.5(NSD1):c.4753G>T (p.Glu1585Ter)
|
rs587784126
|
|
NM_022455.5(NSD1):c.4855T>A (p.Cys1619Ser)
|
rs587784128
|
|
NM_022455.5(NSD1):c.4855T>G (p.Cys1619Gly)
|
rs587784128
|
|
NM_022455.5(NSD1):c.4882_4883insAA (p.Met1628fs)
|
rs797045821
|
|
NM_022455.5(NSD1):c.4907C>T (p.Ser1636Phe)
|
rs587784129
|
|
NM_022455.5(NSD1):c.4966+1G>A
|
rs587784131
|
|
NM_022455.5(NSD1):c.4966G>T (p.Gly1656Cys)
|
rs587784132
|
|
NM_022455.5(NSD1):c.4967-2A>T
|
rs587784133
|
|
NM_022455.5(NSD1):c.4987C>T (p.Arg1663Cys)
|
rs587784134
|
|
NM_022455.5(NSD1):c.5098C>T (p.Arg1700Ter)
|
rs587784137
|
|
NM_022455.5(NSD1):c.5141C>G (p.Ser1714Ter)
|
rs587784138
|
|
NM_022455.5(NSD1):c.5146+1G>A
|
rs587784139
|
|
NM_022455.5(NSD1):c.5279_5282del (p.Val1760fs)
|
rs398124379
|
|
NM_022455.5(NSD1):c.5303+1G>C
|
rs587784141
|
|
NM_022455.5(NSD1):c.5309G>A (p.Trp1770Ter)
|
rs587784142
|
|
NM_022455.5(NSD1):c.5375G>A (p.Gly1792Glu)
|
rs587784143
|
|
NM_022455.5(NSD1):c.5392_5398del (p.Phe1798fs)
|
rs587784145
|
|
NM_022455.5(NSD1):c.5407_5410dup (p.Tyr1804Ter)
|
rs797045823
|
|
NM_022455.5(NSD1):c.5425C>T (p.Gln1809Ter)
|
rs587784147
|
|
NM_022455.5(NSD1):c.5431C>T (p.Arg1811Ter)
|
rs587784148
|
|
NM_022455.5(NSD1):c.5432G>A (p.Arg1811Gln)
|
rs587784149
|
|
NM_022455.5(NSD1):c.5566C>T (p.Gln1856Ter)
|
rs587784151
|
|
NM_022455.5(NSD1):c.5581C>T (p.Arg1861Ter)
|
rs886041218
|
|
NM_022455.5(NSD1):c.5618_5619del (p.Ile1873fs)
|
rs587784152
|
|
NM_022455.5(NSD1):c.5712del (p.Cys1905fs)
|
rs587784153
|
|
NM_022455.5(NSD1):c.5790dup (p.Cys1931fs)
|
rs797045824
|
|
NM_022455.5(NSD1):c.5800C>T (p.Gln1934Ter)
|
rs587784157
|
|
NM_022455.5(NSD1):c.5805C>A (p.Cys1935Ter)
|
rs587784158
|
|
NM_022455.5(NSD1):c.5862G>C (p.Trp1954Cys)
|
rs587784160
|
|
NM_022455.5(NSD1):c.5885T>C (p.Ile1962Thr)
|
rs587784162
|
|
NM_022455.5(NSD1):c.5893-2A>G
|
rs587784163
|
|
NM_022455.5(NSD1):c.5903del (p.Val1968fs)
|
rs587784164
|
|
NM_022455.5(NSD1):c.5911del (p.Tyr1971fs)
|
rs587784165
|
|
NM_022455.5(NSD1):c.5938G>T (p.Glu1980Ter)
|
rs587784168
|
|
NM_022455.5(NSD1):c.5951G>A (p.Arg1984Gln)
|
rs587784169
|
|
NM_022455.5(NSD1):c.5965C>T (p.Gln1989Ter)
|
rs587784170
|
|
NM_022455.5(NSD1):c.5989T>C (p.Tyr1997His)
|
rs587784171
|
|
NM_022455.5(NSD1):c.5990A>G (p.Tyr1997Cys)
|
rs797045825
|
|
NM_022455.5(NSD1):c.6013C>T (p.Arg2005Ter)
|
rs587784173
|
|
NM_022455.5(NSD1):c.6014G>A (p.Arg2005Gln)
|
rs587784174
|
|
NM_022455.5(NSD1):c.6049C>T (p.Arg2017Trp)
|
rs587784176
|
|
NM_022455.5(NSD1):c.6050G>A (p.Arg2017Gln)
|
rs587784177
|
|
NM_022455.5(NSD1):c.6059A>G (p.Asn2020Ser)
|
rs587784178
|
|
NM_022455.5(NSD1):c.6070C>T (p.Gln2024Ter)
|
rs587784179
|
|
NM_022455.5(NSD1):c.6094_6095dup (p.Trp2032fs)
|
rs797045826
|
|
NM_022455.5(NSD1):c.6112dup (p.Thr2038fs)
|
rs797045827
|
|
NM_022455.5(NSD1):c.6151+1G>A
|
rs1562296511
|
|
NM_022455.5(NSD1):c.6157G>T (p.Glu2053Ter)
|
rs587784183
|
|
NM_022455.5(NSD1):c.6165del (p.Phe2056fs)
|
rs587784184
|
|
NM_022455.5(NSD1):c.6218dup (p.Ala2074fs)
|
rs797045828
|
|
NM_022455.5(NSD1):c.6258+1G>A
|
rs587784185
|
|
NM_022455.5(NSD1):c.6290dup (p.Lys2098fs)
|
rs797045829
|
|
NM_022455.5(NSD1):c.6291del (p.Lys2098fs)
|
rs587784186
|
|
NM_022455.5(NSD1):c.6307C>T (p.Gln2103Ter)
|
rs587784187
|
|
NM_022455.5(NSD1):c.6307_6308insTGTGC (p.Gln2103fs)
|
rs797045830
|
|
NM_022455.5(NSD1):c.6310C>T (p.Gln2104Ter)
|
rs587784188
|
|
NM_022455.5(NSD1):c.6311_6312del (p.Gln2104fs)
|
rs587784189
|
|
NM_022455.5(NSD1):c.6344dup (p.Glu2116fs)
|
rs797045831
|
|
NM_022455.5(NSD1):c.6349C>T (p.Arg2117Ter)
|
rs587784190
|
|
NM_022455.5(NSD1):c.6356A>G (p.Asp2119Gly)
|
rs587784191
|
|
NM_022455.5(NSD1):c.6366del (p.Phe2122fs)
|
rs587784192
|
|
NM_022455.5(NSD1):c.6377A>T (p.Asp2126Val)
|
rs587784193
|
|
NM_022455.5(NSD1):c.6421del (p.Val2141fs)
|
rs587784197
|
|
NM_022455.5(NSD1):c.6431del (p.Ala2144fs)
|
rs587784198
|
|
NM_022455.5(NSD1):c.6454C>T (p.Arg2152Ter)
|
rs587784199
|
|
NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln)
|
rs587784200
|
|
NM_022455.5(NSD1):c.6459_6463+5del
|
rs797045832
|
|
NM_022455.5(NSD1):c.6472G>T (p.Glu2158Ter)
|
rs587784201
|
|
NM_022455.5(NSD1):c.6476G>A (p.Cys2159Tyr)
|
rs587784202
|
|
NM_022455.5(NSD1):c.6488del (p.Gln2163fs)
|
rs2127279186
|
|
NM_022455.5(NSD1):c.6521_6523del (p.Phe2174del)
|
rs587784206
|
|
NM_022455.5(NSD1):c.6539_6557del (p.Ser2180fs)
|
rs587784207
|
|
NM_022455.5(NSD1):c.6559C>T (p.Arg2187Ter)
|
rs587784209
|
|
NM_022455.5(NSD1):c.6604T>A (p.Cys2202Ser)
|
rs587784210
|
|
NM_022455.5(NSD1):c.6656G>A (p.Arg2219His)
|
rs587784214
|
|
NM_022455.5(NSD1):c.7783A>T (p.Lys2595Ter)
|
rs797045834
|
|
NM_022455.5(NSD1):c.7939_7940del (p.Gln2647fs)
|
rs587784219
|
|
NM_022455.5(NSD1):c.8036del (p.Pro2679fs)
|
rs587784220
|
|
NM_022455.5(NSD1):c.8043del (p.Asn2682fs)
|
rs587784221
|
|
NM_023110.3(FGFR1):c.1825C>T (p.Arg609Ter)
|
rs121909639
|
|
NM_023110.3(FGFR1):c.2223del (p.Ser742fs)
|
rs1586093849
|
|
NM_024496.4(IRF2BPL):c.562C>T (p.Arg188Ter)
|
rs1345176461
|
|
NM_024529.5(CDC73):c.49del (p.Glu17fs)
|
rs2103111657
|
|
NM_024529.5(CDC73):c.687_688dup (p.Val230fs)
|
rs760591174
|
|
NM_024596.5(MCPH1):c.22+2_22+4del
|
rs1554471681
|
|
NM_024596.5(MCPH1):c.2453-1G>C
|
rs587783739
|
|
NM_024596.5(MCPH1):c.427dup (p.Thr143fs)
|
rs199422125
|
|
NM_024598.4(USB1):c.206del (p.Gly69fs)
|
rs1963248804
|
|
NM_024598.4(USB1):c.481del (p.Tyr161fs)
|
rs1963565243
|
|
NM_024649.5(BBS1):c.952-1G>C
|
rs1057516661
|
|
NM_024675.4(PALB2):c.2938del (p.Ser980fs)
|
rs1555459540
|
|
NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer)
|
rs587781840
|
|
NM_024675.4(PALB2):c.3362del (p.Gly1121fs)
|
rs515726117
|
|
NM_024675.4(PALB2):c.509_510del (p.Arg170fs)
|
rs515726123
|
|
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)
|
rs180177092
|
|
NM_024685.4(BBS10):c.1138dup (p.Arg380fs)
|
rs1555202645
|
|
NM_024685.4(BBS10):c.1495G>T (p.Glu499Ter)
|
rs898539189
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_024747.6(HPS6):c.1711_1712insAG (p.Cys571Ter)
|
rs1220869113
|
|
NM_024809.5(TCTN2):c.134dup (p.Val46fs)
|
rs797046040
|
|
NM_024884.3(L2HGDH):c.1015del (p.Arg339fs)
|
rs1555328749
|
|
NM_024884.3(L2HGDH):c.1115del (p.Met372fs)
|
rs786200869
|
|
NM_024884.3(L2HGDH):c.465del (p.Gly156fs)
|
rs797045678
|
|
NM_025000.4(DCAF17):c.436del (p.Ala147fs)
|
rs797045038
|
|
NM_025074.7(FRAS1):c.7522+1G>T
|
rs730882180
|
|
NM_025099.6(CTC1):c.1213del (p.Asp405fs)
|
rs1444923772
|
|
NM_025099.6(CTC1):c.2831del (p.Pro944fs)
|
rs199473677
|
|
NM_025099.6(CTC1):c.2831dup (p.His945fs)
|
rs199473677
|
|
NM_025099.6(CTC1):c.2847_2850del (p.Val948_Tyr949insTer)
|
rs2151503678
|
|
NM_025099.6(CTC1):c.2951GTT[1] (p.Cys985del)
|
rs199473679
|
|
NM_025099.6(CTC1):c.2T>C (p.Met1Thr)
|
rs1299853886
|
|
NM_025099.6(CTC1):c.3019del (p.Leu1007fs)
|
|
|
NM_025099.6(CTC1):c.724_727del (p.Lys242fs)
|
rs199473674
|
|
NM_025114.4(CEP290):c.1219_1220del (p.Met407fs)
|
rs386834148
|
|
NM_025114.4(CEP290):c.3175dup (p.Ile1059fs)
|
rs62640570
|
|
NM_025114.4(CEP290):c.4621del (p.Thr1541fs)
|
rs587779733
|
|
NM_025114.4(CEP290):c.654T>G (p.Tyr218Ter)
|
rs863225185
|
|
NM_030632.3(ASXL3):c.1192_1195del (p.Thr398fs)
|
rs797045317
|
|
NM_030632.3(ASXL3):c.4706_4710del (p.Lys1568_Leu1569insTer)
|
rs2145429370
|
|
NM_030928.4(CDT1):c.832+1G>A
|
rs587780305
|
|
NM_031448.6(C19orf12):c.225_226delinsTGGAGGAACAGT (p.Gln75fs)
|
rs797045423
|
|
NM_032043.3(BRIP1):c.1936-1G>A
|
rs1555601204
|
|
NM_032382.5(COG8):c.1364_1371del (p.Val455fs)
|
rs2143345233
|
|
NM_032638.5(GATA2):c.1084C>T (p.Arg362Ter)
|
rs1553770510
|
|
NM_032638.5(GATA2):c.1192C>T (p.Arg398Trp)
|
rs387906629
|
|
NM_032638.5(GATA2):c.437del (p.Gly146fs)
|
rs2107672654
|
|
NM_032638.5(GATA2):c.599dup (p.Gly200_Ser201insTer)
|
rs768767517
|
|
NM_032806.6(POMGNT2):c.745C>T (p.Gln249Ter)
|
rs1553618354
|
|
NM_033064.5(ATCAY):c.903C>G (p.Ser301Arg)
|
rs2145256501
|
|
NM_033064.5(ATCAY):c.965+3G>T
|
rs2038943096
|
|
NM_033517.1(SHANK3):c.3679del (p.Ala1227fs)
|
rs762292772
|
|
NM_130839.5(UBE3A):c.1024C>T (p.Gln342Ter)
|
rs587784534
|
|
NM_130839.5(UBE3A):c.1150G>T (p.Glu384Ter)
|
rs587784508
|
|
NM_130839.5(UBE3A):c.1170_1173del (p.Asn390fs)
|
rs587784509
|
|
NM_130839.5(UBE3A):c.1407_1408del (p.Asn470fs)
|
rs587784512
|
|
NM_130839.5(UBE3A):c.1521_1528del (p.Tyr508fs)
|
rs587784513
|
|
NM_130839.5(UBE3A):c.1597dup (p.Ala533fs)
|
rs587781204
|
|
NM_130839.5(UBE3A):c.1627G>T (p.Glu543Ter)
|
rs587784514
|
|
NM_130839.5(UBE3A):c.1659T>A (p.Tyr553Ter)
|
rs587784515
|
|
NM_130839.5(UBE3A):c.1786_1790del (p.Phe596fs)
|
rs587784519
|
|
NM_130839.5(UBE3A):c.1790G>A (p.Trp597Ter)
|
rs587781208
|
|
NM_130839.5(UBE3A):c.1802CTT[1] (p.Ser602del)
|
rs587781234
|
|
NM_130839.5(UBE3A):c.1834_1837del (p.Ile612fs)
|
rs587784520
|
|
NM_130839.5(UBE3A):c.2238dup (p.Phe747fs)
|
rs797046085
|
|
NM_130839.5(UBE3A):c.2305G>T (p.Glu769Ter)
|
rs587781220
|
|
NM_130839.5(UBE3A):c.2364G>A (p.Trp788Ter)
|
rs111033595
|
|
NM_130839.5(UBE3A):c.2397_2400dup (p.Leu801fs)
|
rs797046086
|
|
NM_130839.5(UBE3A):c.2463GAT[1] (p.Met822del)
|
rs587781238
|
|
NM_130839.5(UBE3A):c.2523_2566dup (p.Lys856fs)
|
rs587781230
|
|
NM_130839.5(UBE3A):c.2545T>C (p.Tyr849His)
|
rs587784526
|
|
NM_130839.5(UBE3A):c.2562dup (p.Leu855fs)
|
rs797046087
|
|
NM_130839.5(UBE3A):c.2563_2567dup (p.Lys856fs)
|
rs1555379800
|
|
NM_130839.5(UBE3A):c.2567_2570del (p.Lys856fs)
|
|
|
NM_130839.5(UBE3A):c.2607dup (p.Gly870fs)
|
rs797046088
|
|
NM_130839.5(UBE3A):c.2616_*6del (p.Ter873GlnextTer?)
|
rs587781232
|
|
NM_130839.5(UBE3A):c.372_375del (p.Thr123_Tyr124insTer)
|
rs587780570
|
|
NM_130839.5(UBE3A):c.377C>A (p.Thr126Lys)
|
rs587781241
|
|
NM_130839.5(UBE3A):c.377_381del (p.Thr126fs)
|
rs587784529
|
|
NM_130839.5(UBE3A):c.440del (p.Ile147fs)
|
rs587784530
|
|
NM_130839.5(UBE3A):c.463dup (p.Ser155fs)
|
rs587780572
|
|
NM_130839.5(UBE3A):c.565_571del (p.Glu189fs)
|
rs587784532
|
|
NM_130839.5(UBE3A):c.62+1_62+2insAA
|
rs797046084
|
|
NM_130839.5(UBE3A):c.889G>T (p.Glu297Ter)
|
rs587784533
|
|
NM_133433.3(NIPBL):c.7301_7308delATCTAGCCins13
|
|
|
NM_133433.4(NIPBL):c.1003del (p.Glu335fs)
|
rs587783877
|
|
NM_133433.4(NIPBL):c.1033_1036del (p.Tyr345fs)
|
rs587783878
|
|
NM_133433.4(NIPBL):c.1057A>T (p.Lys353Ter)
|
rs587783879
|
|
NM_133433.4(NIPBL):c.1086_1087del (p.Arg364fs)
|
rs587783880
|
|
NM_133433.4(NIPBL):c.1146dup (p.Ser383Ter)
|
rs797045745
|
|
NM_133433.4(NIPBL):c.1183C>T (p.Gln395Ter)
|
rs587783882
|
|
NM_133433.4(NIPBL):c.1297C>T (p.Gln433Ter)
|
rs587783883
|
|
NM_133433.4(NIPBL):c.133C>T (p.Arg45Ter)
|
rs80358367
|
|
NM_133433.4(NIPBL):c.1372C>T (p.Gln458Ter)
|
rs587783884
|
|
NM_133433.4(NIPBL):c.1445_1448del (p.Arg482fs)
|
rs80358382
|
|
NM_133433.4(NIPBL):c.1447_1448del (p.Glu483fs)
|
rs80358382
|
|
NM_133433.4(NIPBL):c.1448_1449delinsCTCCCTT (p.Glu483fs)
|
rs797045746
|
|
NM_133433.4(NIPBL):c.145G>T (p.Glu49Ter)
|
rs587783886
|
|
NM_133433.4(NIPBL):c.1514_1517del (p.Arg505fs)
|
rs587783888
|
|
NM_133433.4(NIPBL):c.1576C>T (p.Gln526Ter)
|
rs587783889
|
|
NM_133433.4(NIPBL):c.1753del (p.Ile585fs)
|
rs587783891
|
|
NM_133433.4(NIPBL):c.1885C>T (p.Arg629Ter)
|
rs587783892
|
|
NM_133433.4(NIPBL):c.192del (p.Gln64fs)
|
rs80358364
|
|
NM_133433.4(NIPBL):c.1992dup (p.Glu665fs)
|
rs797045748
|
|
NM_133433.4(NIPBL):c.2046del (p.Lys682fs)
|
rs587783894
|
|
NM_133433.4(NIPBL):c.2093C>G (p.Ser698Ter)
|
rs587783896
|
|
NM_133433.4(NIPBL):c.2107_2108del (p.Pro703fs)
|
rs587783897
|
|
NM_133433.4(NIPBL):c.2108del (p.Pro703fs)
|
rs587783897
|
|
NM_133433.4(NIPBL):c.212_213dup (p.Val72fs)
|
rs797045749
|
|
NM_133433.4(NIPBL):c.2260C>T (p.Arg754Ter)
|
rs587783899
|
|
NM_133433.4(NIPBL):c.2389C>T (p.Arg797Ter)
|
rs587783901
|
|
NM_133433.4(NIPBL):c.2394_2397dup (p.Ala800Ter)
|
rs797045750
|
|
NM_133433.4(NIPBL):c.2422C>T (p.Arg808Ter)
|
rs587783902
|
|
NM_133433.4(NIPBL):c.2464_2467del (p.Gln822fs)
|
rs1554017345
|
|
NM_133433.4(NIPBL):c.2464del (p.Gln822fs)
|
rs797045751
|
|
NM_133433.4(NIPBL):c.2479_2480del (p.Arg827fs)
|
rs398124465
|
|
NM_133433.4(NIPBL):c.2489C>G (p.Ser830Ter)
|
rs587783905
|
|
NM_133433.4(NIPBL):c.2494C>T (p.Arg832Ter)
|
rs587783906
|
|
NM_133433.4(NIPBL):c.2500C>T (p.Arg834Ter)
|
rs587783907
|
|
NM_133433.4(NIPBL):c.2521C>T (p.Arg841Ter)
|
rs797045752
|
|
NM_133433.4(NIPBL):c.2602C>T (p.Arg868Ter)
|
rs398124466
|
|
NM_133433.4(NIPBL):c.2711del (p.Arg904fs)
|
rs587783909
|
|
NM_133433.4(NIPBL):c.2773_2774del (p.Lys925fs)
|
rs587783910
|
|
NM_133433.4(NIPBL):c.2832T>A (p.Tyr944Ter)
|
rs587783911
|
|
NM_133433.4(NIPBL):c.286_287insG (p.Leu96fs)
|
rs797045753
|
|
NM_133433.4(NIPBL):c.2903del (p.Asn968fs)
|
rs587783912
|
|
NM_133433.4(NIPBL):c.2965dup (p.Ile989fs)
|
rs797045754
|
|
NM_133433.4(NIPBL):c.3060_3063del (p.Glu1021fs)
|
rs587783914
|
|
NM_133433.4(NIPBL):c.3107C>G (p.Ser1036Ter)
|
rs1554017661
|
|
NM_133433.4(NIPBL):c.310_317del (p.Pro104fs)
|
rs587783917
|
|
NM_133433.4(NIPBL):c.314dup (p.Asn105fs)
|
rs797045755
|
|
NM_133433.4(NIPBL):c.3264del (p.Ser1089fs)
|
rs797045756
|
|
NM_133433.4(NIPBL):c.3305-1G>T
|
rs80358375
|
|
NM_133433.4(NIPBL):c.3322A>T (p.Lys1108Ter)
|
rs587783919
|
|
NM_133433.4(NIPBL):c.3445C>T (p.Arg1149Ter)
|
rs80358374
|
|
NM_133433.4(NIPBL):c.3461_3462del (p.Asp1153_Ser1154insTer)
|
rs587783923
|
|
NM_133433.4(NIPBL):c.3526_3530del (p.Glu1176fs)
|
rs587783925
|
|
NM_133433.4(NIPBL):c.3575-3C>G
|
rs587783926
|
|
NM_133433.4(NIPBL):c.358+1G>T
|
rs587783927
|
|
NM_133433.4(NIPBL):c.3698T>G (p.Leu1233Ter)
|
rs1554020997
|
|
NM_133433.4(NIPBL):c.3709C>T (p.Gln1237Ter)
|
rs2149672495
|
|
NM_133433.4(NIPBL):c.3788_3789del (p.Val1263fs)
|
rs587783930
|
|
NM_133433.4(NIPBL):c.3855+1G>T
|
rs587783933
|
|
NM_133433.4(NIPBL):c.3855+2T>C
|
rs886043046
|
|
NM_133433.4(NIPBL):c.3866_3869del (p.Thr1289fs)
|
rs587783934
|
|
NM_133433.4(NIPBL):c.3874G>T (p.Glu1292Ter)
|
rs587783936
|
|
NM_133433.4(NIPBL):c.3G>T (p.Met1Ile)
|
rs587783937
|
|
NM_133433.4(NIPBL):c.4017C>A (p.Tyr1339Ter)
|
rs587783938
|
|
NM_133433.4(NIPBL):c.4088-2A>T
|
rs587783939
|
|
NM_133433.4(NIPBL):c.4098_4101del (p.Leu1366fs)
|
rs587783940
|
|
NM_133433.4(NIPBL):c.4143_4144del (p.Arg1381fs)
|
rs587783941
|
|
NM_133433.4(NIPBL):c.4240-1G>C
|
rs587783942
|
|
NM_133433.4(NIPBL):c.4275_4287del (p.Glu1425fs)
|
rs587783944
|
|
NM_133433.4(NIPBL):c.4285_4294del (p.Glu1429fs)
|
rs80358386
|
|
NM_133433.4(NIPBL):c.4320+1G>A
|
rs587783945
|
|
NM_133433.4(NIPBL):c.4495C>T (p.Gln1499Ter)
|
rs797045760
|
|
NM_133433.4(NIPBL):c.4511T>A (p.Leu1504Ter)
|
rs80358369
|
|
NM_133433.4(NIPBL):c.4529dup (p.Asp1510fs)
|
rs797045761
|
|
NM_133433.4(NIPBL):c.4532_4533del (p.Asp1510_Ser1511insTer)
|
rs797045762
|
|
NM_133433.4(NIPBL):c.4543G>T (p.Glu1515Ter)
|
rs587783950
|
|
NM_133433.4(NIPBL):c.456del (p.Ser153fs)
|
rs587783951
|
|
NM_133433.4(NIPBL):c.458+1_458+2dup
|
rs797045763
|
|
NM_133433.4(NIPBL):c.4580_4581insCCTGTCAACTAACATGT (p.Thr1528fs)
|
rs797045764
|
|
NM_133433.4(NIPBL):c.4593T>G (p.Tyr1531Ter)
|
rs587783952
|
|
NM_133433.4(NIPBL):c.4606C>T (p.Arg1536Ter)
|
rs121918269
|
|
NM_133433.4(NIPBL):c.4636del (p.Lys1548fs)
|
rs587783953
|
|
NM_133433.4(NIPBL):c.4643+1G>C
|
rs587783954
|
|
NM_133433.4(NIPBL):c.4663del (p.Glu1555fs)
|
rs587783955
|
|
NM_133433.4(NIPBL):c.4684_4687del (p.Phe1562fs)
|
rs587783957
|
|
NM_133433.4(NIPBL):c.4712C>A (p.Ser1571Ter)
|
rs77632238
|
|
NM_133433.4(NIPBL):c.4806_4807del (p.Glu1602fs)
|
rs80358372
|
|
NM_133433.4(NIPBL):c.4818_4819del (p.Arg1606fs)
|
rs587783959
|
|
NM_133433.4(NIPBL):c.4893dup (p.Gly1632fs)
|
rs797045766
|
|
NM_133433.4(NIPBL):c.4965_4972del (p.Asp1657fs)
|
rs797045767
|
|
NM_133433.4(NIPBL):c.4988_4991dup (p.Glu1664delinsAspTer)
|
rs797045768
|
|
NM_133433.4(NIPBL):c.5033_5039del (p.Ala1678fs)
|
rs587783960
|
|
NM_133433.4(NIPBL):c.5044C>T (p.Arg1682Ter)
|
rs797045769
|
|
NM_133433.4(NIPBL):c.5046_5047insTG (p.Asp1683fs)
|
rs797045770
|
|
NM_133433.4(NIPBL):c.5167C>T (p.Arg1723Ter)
|
rs121918267
|
|
NM_133433.4(NIPBL):c.5174del (p.Lys1725fs)
|
rs587783961
|
|
NM_133433.4(NIPBL):c.5328+1G>A
|
rs587783967
|
|
NM_133433.4(NIPBL):c.5329-15A>G
|
rs587783968
|
|
NM_133433.4(NIPBL):c.5329-1G>C
|
rs587783969
|
|
NM_133433.4(NIPBL):c.5335C>T (p.Arg1779Ter)
|
rs587783971
|
|
NM_133433.4(NIPBL):c.5365C>T (p.Arg1789Ter)
|
rs587783972
|
|
NM_133433.4(NIPBL):c.5389_5392del (p.Ser1797fs)
|
rs587783973
|
|
NM_133433.4(NIPBL):c.5428-2A>G
|
rs587783974
|
|
NM_133433.4(NIPBL):c.5440C>T (p.Arg1814Ter)
|
rs80358362
|
|
NM_133433.4(NIPBL):c.5455C>T (p.Arg1819Ter)
|
rs587783975
|
|
NM_133433.4(NIPBL):c.5482C>T (p.Arg1828Ter)
|
rs62654864
|
|
NM_133433.4(NIPBL):c.5483G>A (p.Arg1828Gln)
|
rs587783978
|
|
NM_133433.4(NIPBL):c.5580dup (p.Gly1861fs)
|
rs797045771
|
|
NM_133433.4(NIPBL):c.5679dup (p.Arg1894fs)
|
rs797045772
|
|
NM_133433.4(NIPBL):c.5709+1G>A
|
rs587783979
|
|
NM_133433.4(NIPBL):c.5709+2T>G
|
rs587783980
|
|
NM_133433.4(NIPBL):c.5739_5740del (p.Trp1914fs)
|
rs797045773
|
|
NM_133433.4(NIPBL):c.5808+1G>A
|
rs587783984
|
|
NM_133433.4(NIPBL):c.5822_5834del (p.Arg1941fs)
|
rs2149706056
|
|
NM_133433.4(NIPBL):c.585C>G (p.Tyr195Ter)
|
rs80358360
|
|
NM_133433.4(NIPBL):c.5862+1G>A
|
rs587783985
|
|
NM_133433.4(NIPBL):c.598C>T (p.Gln200Ter)
|
rs587783988
|
|
NM_133433.4(NIPBL):c.610+1G>A
|
rs587783993
|
|
NM_133433.4(NIPBL):c.6108+1G>T
|
rs587783994
|
|
NM_133433.4(NIPBL):c.6108+2T>C
|
rs797045775
|
|
NM_133433.4(NIPBL):c.6249+2dup
|
rs797045776
|
|
NM_133433.4(NIPBL):c.6264_6267del (p.His2087_Cys2088insTer)
|
rs1554031864
|
|
NM_133433.4(NIPBL):c.6317_6320del (p.Val2106fs)
|
rs587784005
|
|
NM_133433.4(NIPBL):c.64+1G>A
|
rs587784009
|
|
NM_133433.4(NIPBL):c.64+3A>C
|
rs587784010
|
|
NM_133433.4(NIPBL):c.6401_6404dup (p.Pro2138fs)
|
rs1554032085
|
|
NM_133433.4(NIPBL):c.6565C>T (p.Gln2189Ter)
|
rs587784013
|
|
NM_133433.4(NIPBL):c.6571A>T (p.Lys2191Ter)
|
rs587784015
|
|
NM_133433.4(NIPBL):c.6590-2A>C
|
rs587784016
|
|
NM_133433.4(NIPBL):c.6590G>A (p.Gly2197Glu)
|
rs587784017
|
|
NM_133433.4(NIPBL):c.6631G>T (p.Glu2211Ter)
|
rs80358363
|
|
NM_133433.4(NIPBL):c.6641_6647del (p.Asn2214fs)
|
rs80358361
|
|
NM_133433.4(NIPBL):c.6647ATA[2] (p.Asn2218del)
|
rs587784022
|
|
NM_133433.4(NIPBL):c.6648_6649del (p.Tyr2216_Asn2217delinsTer)
|
rs587784021
|
|
NM_133433.4(NIPBL):c.6707A>T (p.Asn2236Ile)
|
rs587784023
|
|
NM_133433.4(NIPBL):c.6707dup (p.Asn2236fs)
|
rs797045778
|
|
NM_133433.4(NIPBL):c.6811dup (p.Ser2271fs)
|
rs797045780
|
|
NM_133433.4(NIPBL):c.6892C>G (p.Arg2298Gly)
|
rs80358376
|
|
NM_133433.4(NIPBL):c.6892C>T (p.Arg2298Cys)
|
rs80358376
|
|
NM_133433.4(NIPBL):c.6893G>A (p.Arg2298His)
|
rs587784024
|
|
NM_133433.4(NIPBL):c.6952C>T (p.Gln2318Ter)
|
rs587784026
|
|
NM_133433.4(NIPBL):c.6954+1G>A
|
rs587784027
|
|
NM_133433.4(NIPBL):c.7011_7012del (p.Lys2337fs)
|
rs587784029
|
|
NM_133433.4(NIPBL):c.7062+2T>C
|
rs587784032
|
|
NM_133433.4(NIPBL):c.7102C>T (p.Gln2368Ter)
|
rs587784033
|
|
NM_133433.4(NIPBL):c.7106del (p.Gln2369fs)
|
rs587784034
|
|
NM_133433.4(NIPBL):c.7168G>A (p.Ala2390Thr)
|
rs587784036
|
|
NM_133433.4(NIPBL):c.7198del (p.Arg2400fs)
|
rs587784037
|
|
NM_133433.4(NIPBL):c.7219C>T (p.Arg2407Ter)
|
rs398124471
|
|
NM_133433.4(NIPBL):c.7263+4A>C
|
rs797045781
|
|
NM_133433.4(NIPBL):c.7264-6T>G
|
rs587784038
|
|
NM_133433.4(NIPBL):c.7327C>T (p.Gln2443Ter)
|
rs80358370
|
|
NM_133433.4(NIPBL):c.737A>G (p.Asp246Gly)
|
rs587784042
|
|
NM_133433.4(NIPBL):c.7439_7440del (p.Arg2480fs)
|
rs587784043
|
|
NM_133433.4(NIPBL):c.7701_7725del (p.Ser2568fs)
|
rs587784047
|
|
NM_133433.4(NIPBL):c.771+1G>A
|
rs587784048
|
|
NM_133433.4(NIPBL):c.772-1G>A
|
rs587784049
|
|
NM_133433.4(NIPBL):c.7789del (p.Leu2597fs)
|
rs80358368
|
|
NM_133433.4(NIPBL):c.7806dup (p.Asn2603Ter)
|
rs80358371
|
|
NM_133433.4(NIPBL):c.7816dup (p.Ile2606fs)
|
rs797045783
|
|
NM_133433.4(NIPBL):c.7841_7842dup (p.Val2615Ter)
|
rs797045784
|
|
NM_133433.4(NIPBL):c.7849C>T (p.Gln2617Ter)
|
rs587784050
|
|
NM_133433.4(NIPBL):c.7912dup (p.Glu2638fs)
|
rs797045785
|
|
NM_133433.4(NIPBL):c.7913dup (p.Val2639fs)
|
rs797045786
|
|
NM_133433.4(NIPBL):c.8165_8183del (p.Pro2722fs)
|
rs587784052
|
|
NM_133433.4(NIPBL):c.8275_8276dup (p.Val2760fs)
|
rs797045787
|
|
NM_133433.4(NIPBL):c.8277_8283del (p.Val2760fs)
|
rs587784055
|
|
NM_133433.4(NIPBL):c.8300_8301del (p.Lys2767fs)
|
rs587784056
|
|
NM_133433.4(NIPBL):c.8342_8348delinsATT (p.Ala2781fs)
|
rs797045789
|
|
NM_133433.4(NIPBL):c.8377C>T (p.Arg2793Ter)
|
rs398124474
|
|
NM_133433.4(NIPBL):c.869-1G>A
|
rs587784059
|
|
NM_133433.4(NIPBL):c.86del (p.Pro29fs)
|
rs587784060
|
|
NM_133433.4(NIPBL):c.892C>T (p.Gln298Ter)
|
rs587784062
|
|
NM_133433.4(NIPBL):c.892del (p.Gln298fs)
|
rs587784063
|
|
NM_133433.4(NIPBL):c.922C>T (p.Arg308Ter)
|
rs587784065
|
|
NM_138387.4(G6PC3):c.1012C>T (p.Gln338Ter)
|
rs889605875
|
|
NM_138694.4(PKHD1):c.4415delinsTATTCCCC (p.Cys1472fs)
|
rs398124486
|
|
NM_138711.6(PPARG):c.1183C>T (p.Arg395Cys)
|
rs72551364
|
|
NM_138711.6(PPARG):c.1271del (p.Pro424fs)
|
rs770557781
|
|
NM_138711.6(PPARG):c.924_928del (p.Asp308fs)
|
rs1553650477
|
|
NM_139058.2(ARX):c.304_305ins21 (p.?)
|
|
|
NM_139058.3(ARX):c.1096del (p.Asp366fs)
|
rs797045289
|
|
NM_139058.3(ARX):c.1111C>T (p.Arg371Ter)
|
rs587783182
|
|
NM_139058.3(ARX):c.1120-82_1469dup
|
|
|
NM_139058.3(ARX):c.1141del (p.Ala381fs)
|
rs1556049694
|
|
NM_139058.3(ARX):c.1164_1165insCAAAG (p.Ala389fs)
|
rs797045290
|
|
NM_139058.3(ARX):c.1223_1226dup (p.Leu410fs)
|
rs2048682798
|
|
NM_139058.3(ARX):c.1337dup (p.Pro447fs)
|
rs797045291
|
|
NM_139058.3(ARX):c.1372del (p.Ala458fs)
|
rs587783187
|
|
NM_139058.3(ARX):c.1414C>T (p.Arg472Ter)
|
rs587783189
|
|
NM_139058.3(ARX):c.1449-82_1469dup
|
rs1556046904
|
|
NM_139058.3(ARX):c.1465del (p.Ala489fs)
|
rs587783191
|
|
NM_139058.3(ARX):c.1471dup (p.Leu491fs)
|
rs797045292
|
|
NM_139058.3(ARX):c.1535_1549delinsGGCGCAG (p.Val512fs)
|
rs1556046720
|
|
NM_139058.3(ARX):c.1544del (p.Gly515fs)
|
rs587783192
|
|
NM_139058.3(ARX):c.172del (p.Ala58fs)
|
rs587783193
|
|
NM_139058.3(ARX):c.306GGC[17] (p.Ala109_Ala115dup)
|
rs387906492
|
|
NM_139058.3(ARX):c.306GGC[18] (p.Ala108_Ala115dup)
|
rs387906492
|
|
NM_139058.3(ARX):c.335_368del (p.Ala112fs)
|
rs587783199
|
|
NM_139058.3(ARX):c.34G>T (p.Glu12Ter)
|
rs587783200
|
|
NM_139058.3(ARX):c.409dup (p.Glu137fs)
|
rs797045298
|
|
NM_139058.3(ARX):c.441_464dup (p.Ala148_Ala155dup)
|
rs398124510
|
|
NM_139058.3(ARX):c.562_563delinsTA (p.Ala188Ter)
|
rs797045303
|
|
NM_139058.3(ARX):c.617del (p.Gly206fs)
|
rs587783202
|
|
NM_139058.3(ARX):c.995G>A (p.Arg332His)
|
rs111033612
|
|
NM_139058.3(ARX):c.995G>T (p.Arg332Leu)
|
rs111033612
|
|
NM_139058.3(ARX):c.998C>A (p.Thr333Asn)
|
rs104894745
|
|
NM_139058.3(ARX):c.998C>G (p.Thr333Ser)
|
rs104894745
|
|
NM_139242.4(MTFMT):c.219_222del (p.Glu74fs)
|
rs777725264
|
|
NM_139343.3(BIN1):c.1713G>A (p.Trp571Ter)
|
rs587783343
|
|
NM_145239.3(PRRT2):c.649dup (p.Arg217fs)
|
|
|
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
|
|
|
NM_152296.5(ATP1A3):c.2452G>A (p.Glu818Lys)
|
rs587777771
|
|
NM_152296.5(ATP1A3):c.2767G>A (p.Asp923Asn)
|
rs267606670
|
|
NM_152564.5(VPS13B):c.6009del (p.Phe2003fs)
|
rs1357171752
|
|
NM_152564.5(VPS13B):c.7099del (p.Ala2367fs)
|
rs1554948192
|
|
NM_152564.5(VPS13B):c.8915G>A (p.Trp2972Ter)
|
rs797046098
|
|
NM_152618.3(BBS12):c.787dup (p.Tyr263fs)
|
rs1553941312
|
|
NM_152743.4(BRAT1):c.638dup (p.Val214fs)
|
rs730880324
|
|
NM_152743.4(BRAT1):c.964C>T (p.Gln322Ter)
|
rs1554295159
|
|
NM_152783.5(D2HGDH):c.1027del (p.Ser343fs)
|
rs797045506
|
|
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys)
|
rs60458016
|
|
NM_170707.4(LMNA):c.1081G>A (p.Glu361Lys)
|
rs267607634
|
|
NM_170707.4(LMNA):c.1130G>A (p.Arg377His)
|
rs61672878
|
|
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)
|
rs58932704
|
|
NM_170707.4(LMNA):c.1394G>A (p.Gly465Asp)
|
rs61282106
|
|
NM_170707.4(LMNA):c.1458G>T (p.Lys486Asn)
|
rs59981161
|
|
NM_170707.4(LMNA):c.1488+5G>C
|
rs267607543
|
|
NM_170707.4(LMNA):c.1588C>T (p.Leu530Phe)
|
rs780302064
|
|
NM_170707.4(LMNA):c.1609-3C>G
|
rs267607581
|
|
NM_170707.4(LMNA):c.1619T>C (p.Met540Thr)
|
rs267607547
|
|
NM_170707.4(LMNA):c.1824C>T (p.Gly608=)
|
rs58596362
|
|
NM_170707.4(LMNA):c.184C>G (p.Arg62Gly)
|
rs56793579
|
|
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)
|
rs28933093
|
|
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp)
|
rs121912496
|
|
NM_170707.4(LMNA):c.746G>A (p.Arg249Gln)
|
rs59332535
|
|
NM_170707.4(LMNA):c.810+2T>C
|
rs2102882192
|
|
NM_170707.4(LMNA):c.832G>C (p.Ala278Pro)
|
rs1553265433
|
|
NM_170707.4(LMNA):c.840_845del (p.Arg280_Asn281del)
|
rs1553265436
|
|
NM_170707.4(LMNA):c.908_909del (p.Ser303fs)
|
rs59684335
|
|
NM_170784.3(MKKS):c.775del (p.Thr259fs)
|
rs759131391
|
|
NM_171998.4(RAB39B):c.559G>T (p.Glu187Ter)
|
rs1557314191
|
|
NM_172107.4(KCNQ2):c.1197del (p.Ser399fs)
|
rs587780365
|
|
NM_172107.4(KCNQ2):c.629G>C (p.Arg210Pro)
|
rs886041262
|
|
NM_172107.4(KCNQ2):c.910TTC[1] (p.Phe305del)
|
rs118192212
|
|
NM_173500.4(TTBK2):c.1329dup (p.Arg444fs)
|
rs80356538
|
|
NM_173630.4(RTTN):c.5185+1G>A
|
rs1555707336
|
|
NM_173660.5(DOK7):c.1021_1039dup (p.Ser347fs)
|
rs1553850100
|
|
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)
|
rs606231128
|
|
NM_175914.5(HNF4A):c.187C>T (p.Arg63Trp)
|
rs587777732
|
|
NM_175914.5(HNF4A):c.224+1G>A
|
rs1600707958
|
|
NM_175914.5(HNF4A):c.325C>T (p.Gln109Ter)
|
rs2146411947
|
|
NM_175914.5(HNF4A):c.403C>T (p.Gln135Ter)
|
rs1555815158
|
|
NM_175914.5(HNF4A):c.514C>T (p.Gln172Ter)
|
rs1555815396
|
|
NM_178012.5(TUBB2B):c.1138C>T (p.Arg380Cys)
|
rs1757271243
|
|
NM_178151.2(DCX):c.226_234delCGTTTTCGCins2
|
|
|
NM_178151.2(DCX):c.367del
|
rs587783545
|
|
NM_181507.2(HPS5):c.107del (p.Lys36fs)
|
rs1554948134
|
|
NM_181523.3(PIK3R1):c.1945C>T (p.Arg649Trp)
|
rs397515453
|
|
NM_181741.4(ORC4):c.1226del (p.Thr409fs)
|
rs797045852
|
|
NM_181741.4(ORC4):c.410C>G (p.Ser137Ter)
|
rs2105306744
|
|
NM_182476.3(COQ6):c.1069del (p.Val357fs)
|
rs1555358729
|
|
NM_182916.3(TRNT1):c.1252dup (p.Ser418fs)
|
rs876661298
|
|
NM_182961.4(SYNE1):c.1021G>T (p.Glu341Ter)
|
rs1203553546
|
|
NM_182961.4(SYNE1):c.12152G>A (p.Trp4051Ter)
|
rs2154018964
|
|
NM_182961.4(SYNE1):c.16421C>A (p.Ser5474Ter)
|
rs797046024
|
|
NM_182961.4(SYNE1):c.19893+1G>T
|
rs1191629465
|
|
NM_182961.4(SYNE1):c.22408G>T (p.Glu7470Ter)
|
rs1554573328
|
|
NM_182961.4(SYNE1):c.23001dup (p.Leu7668fs)
|
rs1554553667
|
|
NM_182961.4(SYNE1):c.3769del (p.Glu1257fs)
|
rs2154239396
|
|
NM_182961.4(SYNE1):c.482_483del (p.Ser160_Ser161insTer)
|
rs1554829141
|
|
NM_182961.4(SYNE1):c.5161G>T (p.Glu1721Ter)
|
rs1554676394
|
|
NM_182961.4(SYNE1):c.6877del (p.Glu2293fs)
|
rs797046026
|
|
NM_183235.3(RAB27A):c.2T>C (p.Met1Thr)
|
rs141281020
|
|
NM_194318.4(B3GLCT):c.1140C>A (p.Tyr380Ter)
|
rs199908878
|
|
NM_198253.3(TERT):c.1892G>A (p.Arg631Gln)
|
rs199422294
|
|
NM_198253.3(TERT):c.2146G>A (p.Ala716Thr)
|
rs387907249
|
|
NM_198253.3(TERT):c.2638G>A (p.Ala880Thr)
|
rs1748613571
|
|
NM_198253.3(TERT):c.570_586dup (p.Arg196fs)
|
rs2126688998
|
|
NM_198253.3(TERT):c.579_580delinsTT (p.Arg194Ter)
|
rs1554043041
|
|
NM_199242.3(UNC13D):c.2346_2349del (p.Arg782fs)
|
rs764196809
|
|
NM_201525.4(ADGRG1):c.1216del (p.Leu406fs)
|
rs797045600
|
|
NM_201525.4(ADGRG1):c.1442T>C (p.Leu481Pro)
|
rs587783653
|
|
NM_201525.4(ADGRG1):c.1515T>G (p.Tyr505Ter)
|
rs587783655
|
|
NM_201525.4(ADGRG1):c.1952G>A (p.Trp651Ter)
|
rs587783657
|
|
NM_201525.4(ADGRG1):c.265C>T (p.His89Tyr)
|
rs587783658
|
|
NM_201525.4(ADGRG1):c.739_745del (p.Gln247fs)
|
rs587776625
|
|
NM_201525.4(ADGRG1):c.944_945dup (p.Val316fs)
|
rs797045602
|
|
NM_205850.3(SLC24A5):c.528T>A (p.Cys176Ter)
|
rs1555452574
|
|
NM_206937.2(LIG4):c.1512_1513dup (p.Arg505fs)
|
rs759838407
|
|
NM_207037.2(TCF12):c.1642_1645del (p.Glu548fs)
|
rs1555412971
|
|
NM_207346.3(TSEN54):c.1138G>T (p.Glu380Ter)
|
rs587784475
|
|
NM_207346.3(TSEN54):c.1335del (p.Leu446fs)
|
rs587784476
|
|
NM_207346.3(TSEN54):c.1386_1387insTA (p.Lys463Ter)
|
rs797046054
|
|
NM_207346.3(TSEN54):c.1397dup (p.Gly467fs)
|
rs797046055
|
|
NM_207346.3(TSEN54):c.575_576del (p.His192fs)
|
rs587784479
|
|
NM_207346.3(TSEN54):c.823del (p.Val275fs)
|
rs797046057
|
|
NM_213622.4(STAMBP):c.649C>T (p.Gln217Ter)
|
rs1553382055
|
|
NR_001566.1(TERC):n.116C>T
|
rs199422272
|
|