NM_005105.5(RBM8A):c.*6C>G
|
rs12079762
|
0.04454
|
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu)
|
rs9378252
|
0.00995
|
NM_012452.3(TNFRSF13B):c.542C>A (p.Ala181Glu)
|
rs72553883
|
0.00518
|
NM_000055.2(BCHE):c.1253G>T (p.Gly418Val)
|
rs28933390
|
0.00310
|
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val)
|
rs149989682
|
0.00304
|
NM_001128590.1(CYP21A2):c.-113G>A
|
rs1246774295
|
0.00251
|
NM_000552.5(VWF):c.4751A>G (p.Tyr1584Cys)
|
rs1800386
|
0.00237
|
NM_001001548.3(CD36):c.429+2T>C
|
rs3211893
|
0.00220
|
NM_001358263.1(HK1):c.75+20082A>G
|
rs187500777
|
0.00198
|
NM_018384.5(GIMAP5):c.611T>C (p.Leu204Pro)
|
rs72650695
|
0.00189
|
NM_001354604.2(MITF):c.1273G>A (p.Glu425Lys)
|
rs149617956
|
0.00160
|
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp)
|
rs121912616
|
0.00150
|
NM_002470.4(MYH3):c.-9+1G>A
|
rs557849165
|
0.00117
|
NM_004130.4(GYG1):c.304G>C (p.Asp102His)
|
rs143137713
|
0.00109
|
NM_203290.4(POLR1C):c.193A>G (p.Met65Val)
|
rs141471029
|
0.00100
|
NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu)
|
rs41303899
|
0.00092
|
NM_005609.4(PYGM):c.1094C>T (p.Ala365Val)
|
rs116135678
|
0.00074
|
NM_003235.5(TG):c.229G>A (p.Gly77Ser)
|
rs142698837
|
0.00071
|
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter)
|
rs763672163
|
0.00071
|
NM_001086521.2(NDUFAF8):c.195+271C>T
|
rs745332456
|
0.00063
|
NM_000159.4(GCDH):c.1261G>A (p.Ala421Thr)
|
rs151201155
|
0.00061
|
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)
|
rs549794342
|
0.00061
|
NM_148897.3(SDR9C7):c.551A>G (p.Asp184Gly)
|
rs138435128
|
0.00058
|
NM_000055.2(BCHE):c.812C>T (p.Thr271Met)
|
rs28933389
|
0.00057
|
NM_001182.5(ALDH7A1):c.34del (p.Ala12fs)
|
rs750693623
|
0.00057
|
NM_004004.6(GJB2):c.-22-2A>C
|
rs201895089
|
0.00056
|
NM_138694.4(PKHD1):c.5134G>A (p.Gly1712Arg)
|
rs141103838
|
0.00056
|
NM_001243279.3(ACSF3):c.1A>G (p.Met1Val)
|
rs370382601
|
0.00053
|
NM_025114.4(CEP290):c.4813-2A>G
|
rs369523378
|
0.00046
|
NM_020549.5(CHAT):c.605T>G (p.Met202Arg)
|
rs376808313
|
0.00045
|
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu)
|
rs139644798
|
0.00044
|
NM_176869.3(PPA2):c.683C>T (p.Pro228Leu)
|
rs138215926
|
0.00044
|
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu)
|
rs140455771
|
0.00041
|
NM_000091.5(COL4A3):c.4981C>T (p.Arg1661Cys)
|
rs201697532
|
0.00039
|
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val)
|
rs150212784
|
0.00039
|
NM_020442.6(VARS2):c.1168G>A (p.Ala390Thr)
|
rs202201763
|
0.00039
|
NM_022835.3(PLEKHG2):c.610C>T (p.Arg204Trp)
|
rs201201843
|
0.00039
|
NM_001367624.2(ZNF469):c.19C>T (p.Arg7Ter)
|
rs1004428835
|
0.00037
|
NM_001609.4(ACADSB):c.303+1G>A
|
rs147936696
|
0.00037
|
NM_203447.4(DOCK8):c.54-1G>T
|
rs192864327
|
0.00036
|
NM_000203.5(IDUA):c.1577T>C (p.Leu526Pro)
|
rs781136336
|
0.00035
|
NM_012452.3(TNFRSF13B):c.260T>A (p.Ile87Asn)
|
rs72553877
|
0.00034
|
NM_000152.5(GAA):c.841C>T (p.Arg281Trp)
|
rs142967546
|
0.00033
|
NM_002693.3(POLG):c.2890C>T (p.Arg964Cys)
|
rs201477273
|
0.00033
|
NM_024301.5(FKRP):c.898G>A (p.Val300Met)
|
rs563033008
|
0.00031
|
NM_000122.2(ERCC3):c.325C>T (p.Arg109Ter)
|
rs34295337
|
0.00030
|
NM_000178.4(GSS):c.373C>T (p.Arg125Cys)
|
rs28936396
|
0.00029
|
NM_005502.4(ABCA1):c.5398A>C (p.Asn1800His)
|
rs146292819
|
0.00029
|
NM_207581.4(DUOXA2):c.205+2T>C
|
rs201506037
|
0.00029
|
NM_004341.5(CAD):c.5429G>A (p.Arg1810Gln)
|
rs139332887
|
0.00028
|
NM_001128178.3(NPHP1):c.771+169G>T
|
rs150520157
|
0.00027
|
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr)
|
rs148044781
|
0.00026
|
NM_000494.4(COL17A1):c.3418+2del
|
rs775244527
|
0.00026
|
NM_025099.6(CTC1):c.1994T>G (p.Val665Gly)
|
rs199473676
|
0.00026
|
NM_000053.4(ATP7B):c.122A>G (p.Asn41Ser)
|
rs201738967
|
0.00025
|
NM_001083614.2(EARS2):c.328G>A (p.Gly110Ser)
|
rs201842633
|
0.00025
|
NM_000237.3(LPL):c.998G>A (p.Arg333His)
|
rs144466625
|
0.00024
|
NM_002693.3(POLG):c.2246T>C (p.Phe749Ser)
|
rs202037973
|
0.00024
|
NM_006383.4(CIB2):c.556C>T (p.Arg186Trp)
|
rs370359511
|
0.00024
|
NM_000387.6(SLC25A20):c.198+2T>C
|
rs147540030
|
0.00022
|
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys)
|
rs147875659
|
0.00022
|
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala)
|
rs149802213
|
0.00022
|
NM_001609.4(ACADSB):c.1194C>G (p.Tyr398Ter)
|
rs142095937
|
0.00022
|
NM_000017.4(ACADS):c.1058C>T (p.Ser353Leu)
|
rs28941773
|
0.00020
|
NM_000443.4(ABCB4):c.2784-12T>C
|
rs201498350
|
0.00019
|
NM_000492.4(CFTR):c.2855T>C (p.Met952Thr)
|
rs142773283
|
0.00019
|
NM_001243279.3(ACSF3):c.1411C>T (p.Arg471Trp)
|
rs138680796
|
0.00019
|
NM_001384732.1(CPLANE1):c.9220C>T (p.Arg3074Ter)
|
rs374144275
|
0.00019
|
NM_206933.4(USH2A):c.4106C>T (p.Ser1369Leu)
|
rs201709513
|
0.00019
|
NM_005592.4(MUSK):c.2368G>A (p.Val790Met)
|
rs199476083
|
0.00018
|
NM_000016.6(ACADM):c.797A>G (p.Asp266Gly)
|
rs201375579
|
0.00017
|
NM_000434.4(NEU1):c.649G>A (p.Val217Met)
|
rs28940583
|
0.00017
|
NM_000512.5(GALNS):c.850T>G (p.Phe284Val)
|
rs144067930
|
0.00017
|
NM_006767.4(LZTR1):c.264-13G>A
|
rs587777176
|
0.00017
|
NM_016335.6(PRODH):c.930-1G>C
|
rs751149776
|
0.00017
|
NM_000091.5(COL4A3):c.2083G>A (p.Gly695Arg)
|
rs200287952
|
0.00016
|
NM_000492.4(CFTR):c.489+3A>G
|
rs377729736
|
0.00016
|
NM_000500.9(CYP21A2):c.1099C>T (p.Arg367Cys)
|
rs758658540
|
0.00016
|
NM_015274.3(MAN2B2):c.112G>A (p.Asp38Asn)
|
rs200406024
|
0.00016
|
NM_020320.5(RARS2):c.472_474del (p.Lys158del)
|
rs757743894
|
0.00016
|
NM_024105.4(ALG12):c.437G>A (p.Arg146Gln)
|
rs121907932
|
0.00016
|
NM_138413.4(HOGA1):c.107C>T (p.Ala36Val)
|
rs201803986
|
0.00016
|
NM_003801.4(GPAA1):c.1477_1478del (p.Arg493fs)
|
rs782339984
|
0.00015
|
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys)
|
rs141568342
|
0.00015
|
NM_022132.5(MCCC2):c.1423G>A (p.Gly475Arg)
|
rs148773718
|
0.00015
|
NR_003051.4(RMRP):n.240C>T
|
rs749667892
|
0.00015
|
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn)
|
rs199821556
|
0.00014
|
NM_000303.3(PMM2):c.109C>T (p.Gln37Ter)
|
rs764353860
|
0.00014
|
NM_000326.5(RLBP1):c.753C>A (p.Tyr251Ter)
|
rs151141842
|
0.00014
|
NM_000552.5(VWF):c.7390C>T (p.Arg2464Cys)
|
rs61751286
|
0.00014
|
NM_001127178.3(PIGG):c.2552A>C (p.Gln851Pro)
|
rs150802299
|
0.00014
|
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys)
|
rs756856188
|
0.00014
|
NM_003748.4(ALDH4A1):c.1055C>T (p.Ser352Leu)
|
rs137852937
|
0.00014
|
NM_004004.6(GJB2):c.110T>C (p.Val37Ala)
|
rs141774369
|
0.00014
|
NM_014049.5(ACAD9):c.1552C>T (p.Arg518Cys)
|
rs150283105
|
0.00014
|
NM_018136.5(ASPM):c.9294+2T>C
|
rs199503603
|
0.00014
|
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)
|
rs34647222
|
0.00014
|
NM_001851.6(COL9A1):c.876+2T>A
|
rs149830493
|
0.00013
|
NM_004614.5(TK2):c.415G>A (p.Ala139Thr)
|
rs138479499
|
0.00013
|
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)
|
rs121913049
|
0.00013
|
NM_019109.5(ALG1):c.1187+3A>G
|
rs369160589
|
0.00013
|
NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter)
|
rs201599657
|
0.00013
|
NM_194248.3(OTOF):c.5332G>T (p.Val1778Phe)
|
rs111033330
|
0.00013
|
NM_000122.2(ERCC3):c.1757del (p.Gln586fs)
|
rs753182861
|
0.00012
|
NM_005559.4(LAMA1):c.858+1G>T
|
rs141914419
|
0.00012
|
NM_000018.4(ACADVL):c.1220G>C (p.Gly407Ala)
|
rs904631654
|
0.00011
|
NM_000088.4(COL1A1):c.2594G>A (p.Arg865His)
|
rs193922150
|
0.00011
|
NM_000255.4(MMUT):c.2026G>A (p.Ala676Thr)
|
rs147715336
|
0.00011
|
NM_000256.3(MYBPC3):c.442G>A (p.Gly148Arg)
|
rs397516050
|
0.00011
|
NM_000492.4(CFTR):c.1001G>A (p.Arg334Gln)
|
rs397508137
|
0.00011
|
NM_000492.4(CFTR):c.3297C>A (p.Phe1099Leu)
|
rs747754623
|
0.00011
|
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly)
|
rs191456345
|
0.00011
|
NM_000520.6(HEXA):c.1305C>T (p.Tyr435=)
|
rs587779406
|
0.00011
|
NM_000642.3(AGL):c.4459C>T (p.Arg1487Ter)
|
rs12118058
|
0.00011
|
NM_001079866.2(BCS1L):c.550C>T (p.Arg184Cys)
|
rs121908578
|
0.00011
|
NM_001918.5(DBT):c.827T>G (p.Phe276Cys)
|
rs121964999
|
0.00011
|
NM_005989.4(AKR1D1):c.593C>T (p.Pro198Leu)
|
rs121918342
|
0.00011
|
NM_014704.4(CEP104):c.1003C>T (p.Gln335Ter)
|
rs144744629
|
0.00011
|
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val)
|
rs72552291
|
0.00011
|
NM_015631.6(TCTN3):c.2T>G (p.Met1Arg)
|
rs373479905
|
0.00011
|
NM_020166.5(MCCC1):c.1302T>G (p.Ile434Met)
|
rs376289130
|
0.00011
|
NM_020166.5(MCCC1):c.872C>T (p.Ala291Val)
|
rs201041864
|
0.00011
|
NM_024301.5(FKRP):c.1073C>T (p.Pro358Leu)
|
rs143031195
|
0.00011
|
NM_000286.3(PEX12):c.681-2A>C
|
rs187526749
|
0.00010
|
NM_000369.5(TSHR):c.484C>G (p.Pro162Ala)
|
rs121908863
|
0.00010
|
NM_000552.5(VWF):c.4195C>T (p.Arg1399Cys)
|
rs61750077
|
0.00010
|
NM_001035.3(RYR2):c.4069G>C (p.Asp1357His)
|
rs193922626
|
0.00010
|
NM_002225.5(IVD):c.707C>T (p.Thr236Ile)
|
rs146861563
|
0.00010
|
NM_004793.4(LONP1):c.2282C>T (p.Pro761Leu)
|
rs373182816
|
0.00010
|
NM_018706.7(DHTKD1):c.1309G>T (p.Glu437Ter)
|
rs138884194
|
0.00010
|
NM_000018.4(ACADVL):c.520G>A (p.Val174Met)
|
rs369560930
|
0.00009
|
NM_000053.4(ATP7B):c.3859G>A (p.Gly1287Ser)
|
rs762866453
|
0.00009
|
NM_000132.4(F8):c.6089G>A (p.Ser2030Asn)
|
rs369414658
|
0.00009
|
NM_000257.4(MYH7):c.2606G>A (p.Arg869His)
|
rs202141173
|
0.00009
|
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser)
|
rs375315619
|
0.00009
|
NM_000448.3(RAG1):c.1566G>T (p.Trp522Cys)
|
rs193922461
|
0.00009
|
NM_000492.4(CFTR):c.2657+2_2657+3insA
|
rs397508414
|
0.00009
|
NM_001002755.4(NFU1):c.303-2A>T
|
rs371546359
|
0.00009
|
NM_001164508.2(NEB):c.11333T>C (p.Ile3778Thr)
|
rs200270156
|
0.00009
|
NM_001164508.2(NEB):c.22590+2T>C
|
rs200449517
|
0.00009
|
NM_001256317.3(TMPRSS3):c.316C>T (p.Arg106Cys)
|
rs139805921
|
0.00009
|
NM_001283009.2(RTEL1):c.2956C>T (p.Arg986Ter)
|
rs373740199
|
0.00009
|
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val)
|
rs202003805
|
0.00009
|
NM_003193.5(TBCE):c.100+1G>A
|
rs200356271
|
0.00009
|
NM_003560.4(PLA2G6):c.2222G>A (p.Arg741Gln)
|
rs121908686
|
0.00009
|
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)
|
rs104894408
|
0.00009
|
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys)
|
rs201777056
|
0.00009
|
NM_005430.4(WNT1):c.506G>A (p.Gly169Asp)
|
rs371672410
|
0.00009
|
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)
|
rs373190458
|
0.00009
|
NM_005609.4(PYGM):c.425-26A>G
|
rs764313717
|
0.00009
|
NM_006949.4(STXBP2):c.389T>C (p.Leu130Ser)
|
rs930347206
|
0.00009
|
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu)
|
rs199826737
|
0.00009
|
NM_020117.11(LARS1):c.2770-2A>G
|
rs139456270
|
0.00009
|
NM_021957.4(GYS2):c.495+1G>T
|
rs372079212
|
0.00009
|
NM_022089.4(ATP13A2):c.477+2T>G
|
rs758014228
|
0.00009
|
NM_032119.4(ADGRV1):c.14973-2A>G
|
rs371981035
|
0.00009
|
NM_145059.3(FCSK):c.2068C>T (p.Gln690Ter)
|
rs375737602
|
0.00009
|
NM_000293.3(PHKB):c.2326C>T (p.Gln776Ter)
|
rs149244943
|
0.00008
|
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr)
|
rs143010236
|
0.00008
|
NM_000497.4(CYP11B1):c.125C>T (p.Pro42Leu)
|
rs193922538
|
0.00008
|
NM_000527.5(LDLR):c.1085A>C (p.Asp362Ala)
|
rs138315511
|
0.00008
|
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)
|
rs370644567
|
0.00008
|
NM_000046.5(ARSB):c.667A>G (p.Ile223Val)
|
rs367650121
|
0.00007
|
NM_000154.2(GALK1):c.1036G>A (p.Gly346Ser)
|
rs375690568
|
0.00007
|
NM_000204.5(CFI):c.1019T>C (p.Ile340Thr)
|
rs769419740
|
0.00007
|
NM_000290.4(PGAM2):c.266A>C (p.Glu89Ala)
|
rs104894030
|
0.00007
|
NM_000448.3(RAG1):c.2603C>T (p.Ala868Val)
|
rs193922462
|
0.00007
|
NM_000518.5(HBB):c.389C>T (p.Ala130Val)
|
rs111645889
|
0.00007
|
NM_001142800.2(EYS):c.881C>G (p.Ser294Ter)
|
rs752683070
|
0.00007
|
NM_001148.6(ANK2):c.8166G>A (p.Met2722Ile)
|
rs193922637
|
0.00007
|
NM_002225.5(IVD):c.550+1G>A
|
rs377147994
|
0.00007
|
NM_005956.4(MTHFD1):c.517C>T (p.Arg173Cys)
|
rs141210410
|
0.00007
|
NM_006767.4(LZTR1):c.1084C>T (p.Arg362Ter)
|
rs189150283
|
0.00007
|
NM_016035.5(COQ4):c.202G>C (p.Asp68His)
|
rs758522459
|
0.00007
|
NM_018480.7(TMEM126B):c.397G>A (p.Asp133Asn)
|
rs573006534
|
0.00007
|
NM_054012.4(ASS1):c.805G>A (p.Val269Met)
|
rs370595480
|
0.00007
|
NM_152443.3(RDH12):c.806C>G (p.Ala269Gly)
|
rs116802390
|
0.00007
|
NM_000017.4(ACADS):c.814C>T (p.Arg272Cys)
|
rs539219309
|
0.00006
|
NM_000030.3(AGXT):c.167T>A (p.Ile56Asn)
|
rs180177180
|
0.00006
|
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala)
|
rs587783299
|
0.00006
|
NM_000070.3(CAPN3):c.1099G>A (p.Gly367Ser)
|
rs767106920
|
0.00006
|
NM_000098.3(CPT2):c.200C>G (p.Ala67Gly)
|
rs201966320
|
0.00006
|
NM_000110.4(DPYD):c.2579del (p.Gln860fs)
|
rs746991079
|
0.00006
|
NM_000191.3(HMGCL):c.853del (p.Met284_Leu285insTer)
|
rs779339230
|
0.00006
|
NM_000237.3(LPL):c.292G>A (p.Ala98Thr)
|
rs145657341
|
0.00006
|
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg)
|
rs397515912
|
0.00006
|
NM_000288.4(PEX7):c.340-10A>G
|
rs267608255
|
0.00006
|
NM_000303.3(PMM2):c.359T>C (p.Ile120Thr)
|
rs368582085
|
0.00006
|
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu)
|
rs150719105
|
0.00006
|
NM_000383.4(AIRE):c.798+1G>A
|
rs138489664
|
0.00006
|
NM_000406.3(GNRHR):c.30T>A (p.Asn10Lys)
|
rs104893843
|
0.00006
|
NM_000406.3(GNRHR):c.797T>G (p.Leu266Arg)
|
rs148499544
|
0.00006
|
NM_000419.5(ITGA2B):c.1787T>C (p.Ile596Thr)
|
rs76811038
|
0.00006
|
NM_000443.4(ABCB4):c.140G>A (p.Arg47Gln)
|
rs372685632
|
0.00006
|
NM_000484.4(APP):c.2137G>A (p.Ala713Thr)
|
rs63750066
|
0.00006
|
NM_000492.4(CFTR):c.169T>C (p.Trp57Arg)
|
rs397508272
|
0.00006
|
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)
|
rs78769542
|
0.00006
|
NM_000492.4(CFTR):c.571T>G (p.Phe191Val)
|
rs141482808
|
0.00006
|
NM_000520.6(HEXA):c.806-7G>A
|
rs770932296
|
0.00006
|
NM_000527.5(LDLR):c.2098G>A (p.Asp700Asn)
|
rs375009082
|
0.00006
|
NM_001040716.2(PC):c.1892G>A (p.Arg631Gln)
|
rs113994145
|
0.00006
|
NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala)
|
rs772888249
|
0.00006
|
NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter)
|
rs1458048713
|
0.00006
|
NM_001358921.2(COQ2):c.232A>G (p.Met78Val)
|
rs778094136
|
0.00006
|
NM_001360.3(DHCR7):c.89G>C (p.Gly30Ala)
|
rs200334114
|
0.00006
|
NM_001414.4(EIF2B1):c.252+1G>A
|
rs113994006
|
0.00006
|
NM_002103.5(GYS1):c.678+1G>A
|
rs755305465
|
0.00006
|
NM_002693.3(POLG):c.868C>T (p.Arg290Cys)
|
rs753416225
|
0.00006
|
NM_004204.5(PIGQ):c.942+1G>A
|
rs200661329
|
0.00006
|
NM_005094.4(SLC27A4):c.899A>G (p.Gln300Arg)
|
rs137853134
|
0.00006
|
NM_006767.4(LZTR1):c.1397G>A (p.Arg466Gln)
|
rs587777180
|
0.00006
|
NM_006907.4(PYCR1):c.752G>A (p.Arg251His)
|
rs121918378
|
0.00006
|
NM_007103.4(NDUFV1):c.1022C>T (p.Ala341Val)
|
rs121913660
|
0.00006
|
NM_014363.6(SACS):c.9404T>C (p.Leu3135Ser)
|
rs371019314
|
0.00006
|
NM_014714.4(IFT140):c.1010-1G>A
|
rs770185023
|
0.00006
|
NM_015506.3(MMACHC):c.688C>T (p.Arg230Ter)
|
rs201183360
|
0.00006
|
NM_017882.3(CLN6):c.445C>T (p.Arg149Cys)
|
rs747229909
|
0.00006
|
NM_018129.4(PNPO):c.500T>C (p.Ile167Thr)
|
rs546737191
|
0.00006
|
NM_020320.5(RARS2):c.1327T>C (p.Ser443Pro)
|
rs775295739
|
0.00006
|
NM_020435.4(GJC2):c.302G>T (p.Arg101Leu)
|
rs375288744
|
0.00006
|
NM_022124.6(CDH23):c.7362G>A (p.Thr2454=)
|
rs370983472
|
0.00006
|
NM_032043.3(BRIP1):c.3196del (p.Ser1066fs)
|
rs730881645
|
0.00006
|
NM_033028.5(BBS4):c.1440dup (p.Leu481fs)
|
rs780269741
|
0.00006
|
NM_033118.4(MYLK2):c.595A>G (p.Ile199Val)
|
rs193922712
|
0.00006
|
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser)
|
rs199588390
|
0.00006
|
NM_203290.4(POLR1C):c.326G>A (p.Arg109His)
|
rs796052127
|
0.00006
|
NM_206933.4(USH2A):c.956G>A (p.Cys319Tyr)
|
rs121912599
|
0.00006
|
NM_000023.4(SGCA):c.614C>A (p.Pro205His)
|
rs757481230
|
0.00005
|
NM_000053.4(ATP7B):c.1285+5G>T
|
rs370579582
|
0.00005
|
NM_000053.4(ATP7B):c.3316G>A (p.Val1106Ile)
|
rs541208827
|
0.00005
|
NM_000112.4(SLC26A2):c.700-1G>C
|
rs200963884
|
0.00005
|
NM_000235.4(LIPA):c.379C>T (p.Arg127Trp)
|
rs140686447
|
0.00005
|
NM_000256.3(MYBPC3):c.1831G>A (p.Glu611Lys)
|
rs730880555
|
0.00005
|
NM_000275.3(OCA2):c.2037G>C (p.Trp679Cys)
|
rs121918169
|
0.00005
|
NM_000350.3(ABCA4):c.4519G>A (p.Gly1507Arg)
|
rs568792949
|
0.00005
|
NM_001079866.2(BCS1L):c.340C>T (p.Arg114Trp)
|
rs778769841
|
0.00005
|
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter)
|
rs201454788
|
0.00005
|
NM_002185.5(IL7R):c.539A>C (p.His180Pro)
|
rs193922642
|
0.00005
|
NM_004415.4(DSP):c.7964C>G (p.Ala2655Gly)
|
rs193922671
|
0.00005
|
NM_006363.6(SEC23B):c.2101C>T (p.Arg701Cys)
|
rs201270568
|
0.00005
|
NM_007103.4(NDUFV1):c.1162+4A>C
|
rs199683937
|
0.00005
|
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp)
|
rs137853007
|
0.00005
|
NM_012434.5(SLC17A5):c.719G>A (p.Trp240Ter)
|
rs386833993
|
0.00005
|
NM_022132.5(MCCC2):c.641G>C (p.Gly214Ala)
|
rs277995
|
0.00005
|
NM_176869.3(PPA2):c.476C>T (p.Thr159Met)
|
rs752062224
|
0.00005
|
NM_000019.4(ACAT1):c.444_445del (p.Met148fs)
|
rs727503795
|
0.00004
|
NM_000053.4(ATP7B):c.4039G>A (p.Gly1347Ser)
|
rs587783318
|
0.00004
|
NM_000070.3(CAPN3):c.865C>T (p.Arg289Trp)
|
rs528417986
|
0.00004
|
NM_000082.4(ERCC8):c.481G>A (p.Val161Ile)
|
rs148393161
|
0.00004
|
NM_000108.5(DLD):c.1382G>A (p.Gly461Glu)
|
rs757275923
|
0.00004
|
NM_000110.4(DPYD):c.1475C>T (p.Ser492Leu)
|
rs72549304
|
0.00004
|
NM_000110.4(DPYD):c.1651G>A (p.Ala551Thr)
|
rs777425216
|
0.00004
|
NM_000110.4(DPYD):c.187A>G (p.Lys63Glu)
|
rs367619008
|
0.00004
|
NM_000110.4(DPYD):c.2275C>T (p.Arg759Ter)
|
rs759372918
|
0.00004
|
NM_000136.3(FANCC):c.521+1G>A
|
rs145394391
|
0.00004
|
NM_000159.4(GCDH):c.268G>A (p.Glu90Lys)
|
rs1025558859
|
0.00004
|
NM_000182.5(HADHA):c.919-2A>G
|
rs200017313
|
0.00004
|
NM_000199.5(SGSH):c.1063G>A (p.Glu355Lys)
|
rs766938111
|
0.00004
|
NM_000203.5(IDUA):c.1046A>G (p.Asp349Gly)
|
rs371397270
|
0.00004
|
NM_000231.3(SGCG):c.195+1G>C
|
rs200502077
|
0.00004
|
NM_000238.4(KCNH2):c.2860C>T (p.Arg954Cys)
|
rs141401803
|
0.00004
|
NM_000260.4(MYO7A):c.1A>G (p.Met1Val)
|
rs797044518
|
0.00004
|
NM_000277.3(PAH):c.1238G>A (p.Arg413His)
|
rs79931499
|
0.00004
|
NM_000293.3(PHKB):c.2427+965A>C
|
rs761645932
|
0.00004
|
NM_000303.3(PMM2):c.421C>T (p.Arg141Cys)
|
rs746610168
|
0.00004
|
NM_000303.3(PMM2):c.640-15479C>T
|
rs1258107584
|
0.00004
|
NM_000311.5(PRNP):c.623G>A (p.Arg208His)
|
rs74315412
|
0.00004
|
NM_000349.3(STAR):c.661G>A (p.Gly221Ser)
|
rs139081695
|
0.00004
|
NM_000352.6(ABCC8):c.4198G>A (p.Gly1400Arg)
|
rs137852676
|
0.00004
|
NM_000360.4(TH):c.1402G>A (p.Val468Met)
|
rs1800033
|
0.00004
|
NM_000363.5(TNNI3):c.484C>T (p.Arg162Trp)
|
rs368861241
|
0.00004
|
NM_000410.4(HFE):c.1006+1G>A
|
rs573745685
|
0.00004
|
NM_000448.3(RAG1):c.322C>T (p.Arg108Ter)
|
rs193922464
|
0.00004
|
NM_000492.4(CFTR):c.794T>G (p.Met265Arg)
|
rs148519623
|
0.00004
|
NM_000497.4(CYP11B1):c.1120C>T (p.Arg374Trp)
|
rs61752786
|
0.00004
|
NM_000512.5(GALNS):c.181C>T (p.Arg61Trp)
|
rs145798311
|
0.00004
|
NM_000521.4(HEXB):c.1510C>T (p.Pro504Ser)
|
rs121907985
|
0.00004
|
NM_000536.4(RAG2):c.1352G>C (p.Gly451Ala)
|
rs121918575
|
0.00004
|
NM_000543.5(SMPD1):c.475T>C (p.Cys159Arg)
|
rs727504166
|
0.00004
|
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp)
|
rs765123255
|
0.00004
|
NM_001082538.3(TCTN1):c.712+1G>A
|
rs200863258
|
0.00004
|
NM_001083116.3(PRF1):c.1628dup (p.Glu545fs)
|
rs1564723449
|
0.00004
|
NM_001182.5(ALDH7A1):c.1556G>A (p.Arg519Lys)
|
rs561343926
|
0.00004
|
NM_001182.5(ALDH7A1):c.364C>T (p.Arg122Trp)
|
rs370624118
|
0.00004
|
NM_001360.3(DHCR7):c.1A>G (p.Met1Val)
|
rs104886033
|
0.00004
|
NM_001363118.2(SLC52A2):c.935T>C (p.Leu312Pro)
|
rs754320812
|
0.00004
|
NM_001367624.2(ZNF469):c.10324del (p.Arg3442fs)
|
rs756543273
|
0.00004
|
NM_001378454.1(ALMS1):c.355C>T (p.Gln119Ter)
|
rs751804613
|
0.00004
|
NM_001386140.1(MTTP):c.1618C>T (p.Arg540Cys)
|
rs372321643
|
0.00004
|
NM_001395891.1(CLASP1):c.196-678C>T
|
rs544312701
|
0.00004
|
NM_001909.5(CTSD):c.299C>T (p.Ser100Phe)
|
rs796052407
|
0.00004
|
NM_001918.5(DBT):c.1018-550A>G
|
rs796052135
|
0.00004
|
NM_003000.3(SDHB):c.269G>A (p.Arg90Gln)
|
rs570278423
|
0.00004
|
NM_003119.4(SPG7):c.861+2dup
|
rs771256761
|
0.00004
|
NM_003476.5(CSRP3):c.365G>A (p.Arg122Gln)
|
rs193922667
|
0.00004
|
NM_003620.4(PPM1D):c.1654C>T (p.Arg552Ter)
|
rs779070661
|
0.00004
|
NM_004646.4(NPHS1):c.3548dup (p.Tyr1183Ter)
|
rs756436580
|
0.00004
|
NM_006019.4(TCIRG1):c.1549G>A (p.Asp517Asn)
|
rs369264588
|
0.00004
|
NM_006261.5(PROP1):c.359G>A (p.Arg120His)
|
rs769171020
|
0.00004
|
NM_006949.4(STXBP2):c.194G>A (p.Arg65Gln)
|
rs141717050
|
0.00004
|
NM_012463.4(ATP6V0A2):c.78dup (p.Ser27fs)
|
rs745590426
|
0.00004
|
NM_015272.5(RPGRIP1L):c.2200C>T (p.Arg734Ter)
|
rs751128300
|
0.00004
|
NM_015474.4(SAMHD1):c.1343T>C (p.Ile448Thr)
|
rs774964432
|
0.00004
|
NM_017739.4(POMGNT1):c.932G>A (p.Arg311Gln)
|
rs193919336
|
0.00004
|
NM_017777.4(MKS1):c.190+2T>C
|
rs375170572
|
0.00004
|
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His)
|
rs267608687
|
0.00004
|
NM_018116.4(MSTO1):c.971C>T (p.Thr324Ile)
|
rs622288
|
0.00004
|
NM_020166.5(MCCC1):c.1331G>A (p.Arg444His)
|
rs768785753
|
0.00004
|
NM_020166.5(MCCC1):c.196C>T (p.Arg66Cys)
|
rs754460336
|
0.00004
|
NM_021971.4(GMPPB):c.656T>C (p.Ile219Thr)
|
rs761714818
|
0.00004
|
NM_022132.5(MCCC2):c.577C>T (p.Arg193Cys)
|
rs547662164
|
0.00004
|
NM_024306.5(FA2H):c.620C>T (p.Thr207Met)
|
rs372445274
|
0.00004
|
NM_025074.7(FRAS1):c.4843+2T>C
|
rs370018000
|
0.00004
|
NM_025265.4(TSEN2):c.1099+1G>A
|
rs149417061
|
0.00004
|
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu)
|
rs758352210
|
0.00004
|
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=)
|
rs776060304
|
0.00004
|
NM_153240.5(NPHP3):c.1928C>T (p.Pro643Leu)
|
rs760831781
|
0.00004
|
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)
|
rs121908143
|
0.00004
|
NM_182760.4(SUMF1):c.602+1G>A
|
rs143616931
|
0.00004
|
NM_194248.3(OTOF):c.149G>A (p.Trp50Ter)
|
rs202086317
|
0.00004
|
NM_213599.3(ANO5):c.2521C>G (p.His841Asp)
|
rs781027702
|
0.00004
|
NM_000016.6(ACADM):c.928G>A (p.Gly310Arg)
|
rs747268471
|
0.00003
|
NM_000018.4(ACADVL):c.1076C>T (p.Ala359Val)
|
rs539029862
|
0.00003
|
NM_000018.4(ACADVL):c.1096C>T (p.Arg366Cys)
|
rs771874163
|
0.00003
|
NM_000018.4(ACADVL):c.1748C>G (p.Ser583Trp)
|
rs1085307648
|
0.00003
|
NM_000019.4(ACAT1):c.1229C>T (p.Ala410Val)
|
rs767412638
|
0.00003
|
NM_000023.4(SGCA):c.518T>C (p.Leu173Pro)
|
rs143962150
|
0.00003
|
NM_000048.4(ASL):c.284G>A (p.Arg95His)
|
rs150244667
|
0.00003
|
NM_000051.4(ATM):c.2639-384A>G
|
rs1131691154
|
0.00003
|
NM_000057.4(BLM):c.3210+2del
|
rs587779886
|
0.00003
|
NM_000071.3(CBS):c.737-1G>C
|
rs757428597
|
0.00003
|
NM_000079.4(CHRNA1):c.1A>G (p.Met1Val)
|
rs146464862
|
0.00003
|
NM_000091.5(COL4A3):c.1450G>A (p.Gly484Arg)
|
rs777401300
|
0.00003
|
NM_000110.4(DPYD):c.208C>T (p.Arg70Ter)
|
rs141597515
|
0.00003
|
NM_000112.4(SLC26A2):c.1650del (p.Ser551fs)
|
rs386833497
|
0.00003
|
NM_000112.4(SLC26A2):c.764G>A (p.Gly255Glu)
|
rs104893917
|
0.00003
|
NM_000122.2(ERCC3):c.1115_1120dup (p.Trp374Ter)
|
rs778865255
|
0.00003
|
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)
|
rs149851163
|
0.00003
|
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)
|
rs371897078
|
0.00003
|
NM_000152.5(GAA):c.2297A>G (p.Tyr766Cys)
|
rs144016984
|
0.00003
|
NM_000153.4(GALC):c.868C>T (p.Arg290Cys)
|
rs780750448
|
0.00003
|
NM_000157.4(GBA1):c.497A>T (p.Asp166Val)
|
rs79796061
|
0.00003
|
NM_000158.4(GBE1):c.708G>C (p.Gln236His)
|
rs137852892
|
0.00003
|
NM_000238.4(KCNH2):c.1888G>A (p.Val630Ile)
|
rs199472958
|
0.00003
|
NM_000251.3(MSH2):c.1862G>T (p.Arg621Leu)
|
rs759263820
|
0.00003
|
NM_000277.3(PAH):c.1123C>G (p.Gln375Glu)
|
rs184148104
|
0.00003
|
NM_000308.4(CTSA):c.601-2A>G
|
rs778159802
|
0.00003
|
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys)
|
rs762894736
|
0.00003
|
NM_000320.3(QDPR):c.49G>C (p.Gly17Arg)
|
rs757483045
|
0.00003
|
NM_000335.5(SCN5A):c.3953G>T (p.Gly1318Val)
|
rs199473220
|
0.00003
|
NM_000359.3(TGM1):c.1469A>G (p.Asp490Gly)
|
rs121918724
|
0.00003
|
NM_000426.4(LAMA2):c.4311G>A (p.Gln1437=)
|
rs1047569721
|
0.00003
|
NM_000441.2(SLC26A4):c.1589A>C (p.Tyr530Ser)
|
rs747636919
|
0.00003
|
NM_000448.3(RAG1):c.1303A>G (p.Met435Val)
|
rs141524540
|
0.00003
|
NM_000465.4(BARD1):c.2242G>T (p.Glu748Ter)
|
rs879253880
|
0.00003
|
NM_000466.3(PEX1):c.2966T>C (p.Ile989Thr)
|
rs61750427
|
0.00003
|
NM_000478.6(ALPL):c.1120G>A (p.Val374Met)
|
rs552831415
|
0.00003
|
NM_000481.4(AMT):c.887G>A (p.Arg296His)
|
rs386833690
|
0.00003
|
NM_000492.4(CFTR):c.2939T>A (p.Ile980Lys)
|
rs397508463
|
0.00003
|
NM_000527.5(LDLR):c.1061A>T (p.Asp354Val)
|
rs755449669
|
0.00003
|
NM_000527.5(LDLR):c.1474G>C (p.Asp492His)
|
rs373646964
|
0.00003
|
NM_000532.5(PCCB):c.1398+1G>T
|
rs794727092
|
0.00003
|
NM_000535.7(PMS2):c.2521del (p.Trp841fs)
|
rs886039646
|
0.00003
|
NM_000536.4(RAG2):c.217C>T (p.Arg73Cys)
|
rs193922574
|
0.00003
|
NM_000543.5(SMPD1):c.940G>A (p.Val314Met)
|
rs1228068212
|
0.00003
|
NM_000545.8(HNF1A):c.467C>T (p.Thr156Met)
|
rs150513055
|
0.00003
|
NM_000545.8(HNF1A):c.827C>G (p.Ala276Gly)
|
rs137853245
|
0.00003
|
NM_000709.4(BCKDHA):c.288+9C>T
|
rs398123497
|
0.00003
|
NM_001002294.3(FMO3):c.182A>G (p.Asn61Ser)
|
rs72549322
|
0.00003
|
NM_001003722.2(GLE1):c.1750C>T (p.Arg584Trp)
|
rs765269946
|
0.00003
|
NM_001008216.2(GALE):c.505C>T (p.Arg169Trp)
|
rs137853859
|
0.00003
|
NM_001048174.2(MUTYH):c.1393G>T (p.Val465Phe)
|
rs587782228
|
0.00003
|
NM_001128159.3(VPS53):c.1312_1313+2del
|
rs768997239
|
0.00003
|
NM_001142800.2(EYS):c.3243+1G>A
|
rs1300490966
|
0.00003
|
NM_001142800.2(EYS):c.9019G>T (p.Asp3007Tyr)
|
rs888739369
|
0.00003
|
NM_001164508.2(NEB):c.18472-1G>C
|
rs1203257517
|
0.00003
|
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter)
|
rs749452641
|
0.00003
|
NM_001174089.2(SLC4A11):c.1282+1G>A
|
rs776659347
|
0.00003
|
NM_001174150.2(ARL13B):c.1252C>T (p.Arg418Ter)
|
rs779260568
|
0.00003
|
NM_001267550.2(TTN):c.89197+1G>C
|
rs1131691873
|
0.00003
|
NM_001283009.2(RTEL1):c.2869C>T (p.Arg957Trp)
|
rs398123018
|
0.00003
|
NM_001352514.2(HLCS):c.2121+1G>A
|
rs1175936807
|
0.00003
|
NM_001360.3(DHCR7):c.111G>A (p.Trp37Ter)
|
rs750345068
|
0.00003
|
NM_001360.3(DHCR7):c.3G>A (p.Met1Ile)
|
rs121909767
|
0.00003
|
NM_001360.3(DHCR7):c.862G>A (p.Glu288Lys)
|
rs565893436
|
0.00003
|
NM_001378454.1(ALMS1):c.11669-2A>G
|
rs952110960
|
0.00003
|
NM_001625.4(AK2):c.556C>T (p.Arg186Cys)
|
rs267606645
|
0.00003
|
NM_002435.3(MPI):c.305C>T (p.Ser102Leu)
|
rs104894494
|
0.00003
|
NM_002485.5(NBN):c.897-2A>T
|
rs864622090
|
0.00003
|
NM_002529.4(NTRK1):c.1354+1G>T
|
rs764771898
|
0.00003
|
NM_002637.4(PHKA1):c.2606+1G>A
|
rs373517016
|
0.00003
|
NM_002693.3(POLG):c.2557C>T (p.Arg853Trp)
|
rs121918053
|
0.00003
|
NM_002778.4(PSAP):c.679_681del (p.Lys227del)
|
rs1431844269
|
0.00003
|
NM_003060.4(SLC22A5):c.1053-2A>C
|
rs777004046
|
0.00003
|
NM_003060.4(SLC22A5):c.131C>T (p.Ala44Val)
|
rs199689597
|
0.00003
|
NM_003480.4(MFAP5):c.340C>T (p.Arg114Ter)
|
rs376830567
|
0.00003
|
NM_003560.4(PLA2G6):c.2287C>T (p.Gln763Ter)
|
rs373493102
|
0.00003
|
NM_003640.5(ELP1):c.4C>T (p.Arg2Ter)
|
rs926177767
|
0.00003
|
NM_004004.6(GJB2):c.2T>C (p.Met1Thr)
|
rs371086981
|
0.00003
|
NM_004006.3(DMD):c.10247G>A (p.Trp3416Ter)
|
rs201217593
|
0.00003
|
NM_004260.4(RECQL4):c.1910T>C (p.Phe637Ser)
|
rs386833848
|
0.00003
|
NM_004453.4(ETFDH):c.405+3A>T
|
rs796051965
|
0.00003
|
NM_004614.5(TK2):c.156+2T>C
|
rs281865499
|
0.00003
|
NM_005476.7(GNE):c.673G>A (p.Asp225Asn)
|
rs121908630
|
0.00003
|
NM_005609.4(PYGM):c.2143C>T (p.Arg715Trp)
|
rs780656375
|
0.00003
|
NM_005609.4(PYGM):c.2352C>A (p.Cys784Ter)
|
rs1057517001
|
0.00003
|
NM_005957.5(MTHFR):c.137G>A (p.Arg46Gln)
|
rs776483190
|
0.00003
|
NM_006397.3(RNASEH2A):c.556C>T (p.Arg186Trp)
|
rs77103971
|
0.00003
|
NM_006929.5(SKIC2):c.235C>T (p.Arg79Ter)
|
rs759511516
|
0.00003
|
NM_007194.4(CHEK2):c.707T>C (p.Leu236Pro)
|
rs587782471
|
0.00003
|
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala)
|
rs587780192
|
0.00003
|
NM_013339.4(ALG6):c.1249del (p.Gln417fs)
|
rs771069984
|
0.00003
|
NM_014026.6(DCPS):c.454C>T (p.Arg152Ter)
|
rs904572688
|
0.00003
|
NM_014363.6(SACS):c.9508C>T (p.Arg3170Ter)
|
rs202199411
|
0.00003
|
NM_014875.3(KIF14):c.3661+1G>T
|
rs151249558
|
0.00003
|
NM_015213.4(DENND5A):c.2314C>T (p.Arg772Ter)
|
rs1057519563
|
0.00003
|
NM_015272.5(RPGRIP1L):c.2874+1G>C
|
rs753075262
|
0.00003
|
NM_016239.4(MYO15A):c.2629G>T (p.Glu877Ter)
|
rs771720649
|
0.00003
|
NM_017882.3(CLN6):c.662A>C (p.Tyr221Ser)
|
rs764571295
|
0.00003
|
NM_018129.4(PNPO):c.657G>A (p.Trp219Ter)
|
rs776248931
|
0.00003
|
NM_018941.4(CLN8):c.470A>G (p.His157Arg)
|
rs149308952
|
0.00003
|
NM_019616.4(F7):c.656C>A (p.Thr219Asn)
|
rs1160146175
|
0.00003
|
NM_019616.4(F7):c.961G>A (p.Gly321Ser)
|
rs1250853566
|
0.00003
|
NM_020320.5(RARS2):c.419T>G (p.Phe140Cys)
|
rs772887102
|
0.00003
|
NM_020451.3(SELENON):c.1010+1G>A
|
rs908682527
|
0.00003
|
NM_020631.6(PLEKHG5):c.2053C>T (p.Gln685Ter)
|
rs772217003
|
0.00003
|
NM_020661.4(AICDA):c.251G>A (p.Trp84Ter)
|
rs193922703
|
0.00003
|
NM_020751.3(COG6):c.1535T>G (p.Leu512Ter)
|
rs1292534396
|
0.00003
|
NM_024306.5(FA2H):c.130C>T (p.Pro44Ser)
|
rs1268722908
|
0.00003
|
NM_025099.6(CTC1):c.2996_2997del (p.Pro999fs)
|
rs761922947
|
0.00003
|
NM_025137.4(SPG11):c.3292-1G>T
|
rs201217015
|
0.00003
|
NM_033028.5(BBS4):c.712-1G>A
|
rs377031435
|
0.00003
|
NM_033109.5(PNPT1):c.419C>T (p.Pro140Leu)
|
rs572684828
|
0.00003
|
NM_033380.3(COL4A5):c.2998G>A (p.Gly1000Arg)
|
rs2067110688
|
0.00003
|
NM_033629.6(TREX1):c.290G>A (p.Arg97His)
|
rs200773268
|
0.00003
|
NM_138413.4(HOGA1):c.763C>T (p.Arg255Ter)
|
rs796052086
|
0.00003
|
NM_138694.4(PKHD1):c.10136del (p.Thr3379fs)
|
rs765209037
|
0.00003
|
NM_153704.6(TMEM67):c.651+2T>G
|
rs199821258
|
0.00003
|
NM_175914.5(HNF4A):c.1097C>G (p.Pro366Arg)
|
rs193922469
|
0.00003
|
NM_194248.3(OTOF):c.76C>T (p.Arg26Ter)
|
rs145208539
|
0.00003
|
NR_003051.3(RMRP):n.-14_-2dup13
|
rs1554651400
|
0.00003
|
NR_003051.3(RMRP):n.-20_1dup
|
rs1563907710
|
0.00003
|
NM_000016.6(ACADM):c.134A>G (p.Gln45Arg)
|
rs757434857
|
0.00002
|
NM_000016.6(ACADM):c.158G>A (p.Arg53His)
|
rs754938068
|
0.00002
|
NM_000022.4(ADA):c.454C>A (p.Leu152Met)
|
rs121908728
|
0.00002
|
NM_000055.4(BCHE):c.594T>G (p.Asp198Glu)
|
rs781368801
|
0.00002
|
NM_000071.3(CBS):c.361C>T (p.Arg121Cys)
|
rs775992753
|
0.00002
|
NM_000112.4(SLC26A2):c.2033G>T (p.Gly678Val)
|
rs104893916
|
0.00002
|
NM_000136.3(FANCC):c.1302dup (p.Gly435fs)
|
rs730881709
|
0.00002
|
NM_000136.3(FANCC):c.843+1G>A
|
rs587779909
|
0.00002
|
NM_000152.5(GAA):c.1710C>G (p.Asn570Lys)
|
rs765362308
|
0.00002
|
NM_000152.5(GAA):c.971C>T (p.Pro324Leu)
|
rs750030887
|
0.00002
|
NM_000153.4(GALC):c.1814dup (p.Tyr605Ter)
|
rs766007316
|
0.00002
|
NM_000155.4(GALT):c.688-2A>C
|
rs398123185
|
0.00002
|
NM_000157.4(GBA1):c.492C>G (p.Ser164Arg)
|
rs746019841
|
0.00002
|
NM_000159.4(GCDH):c.641C>T (p.Thr214Met)
|
rs1131692030
|
0.00002
|
NM_000169.3(GLA):c.593T>C (p.Ile198Thr)
|
rs727503950
|
0.00002
|
NM_000179.3(MSH6):c.3226C>T (p.Arg1076Cys)
|
rs63750617
|
0.00002
|
NM_000228.3(LAMB3):c.463dup (p.Ser155fs)
|
rs776537364
|
0.00002
|
NM_000237.3(LPL):c.547G>A (p.Asp183Asn)
|
rs781614031
|
0.00002
|
NM_000257.4(MYH7):c.5422G>A (p.Gly1808Ser)
|
rs369940645
|
0.00002
|
NM_000271.5(NPC1):c.1114C>T (p.Arg372Trp)
|
rs1346436537
|
0.00002
|
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys)
|
rs781065429
|
0.00002
|
NM_000271.5(NPC1):c.1901A>G (p.Tyr634Cys)
|
rs202140203
|
0.00002
|
NM_000271.5(NPC1):c.3634G>T (p.Val1212Leu)
|
rs753419933
|
0.00002
|
NM_000277.3(PAH):c.463C>T (p.Arg155Cys)
|
rs539743701
|
0.00002
|
NM_000282.4(PCCA):c.775_779del (p.Leu259fs)
|
rs794726976
|
0.00002
|
NM_000287.4(PEX6):c.1962-1G>A
|
rs267608229
|
0.00002
|
NM_000303.3(PMM2):c.178+1G>A
|
rs935962174
|
0.00002
|
NM_000303.3(PMM2):c.255+1G>A
|
rs1060499598
|
0.00002
|
NM_000317.3(PTS):c.400G>A (p.Glu134Lys)
|
rs779681799
|
0.00002
|
NM_000320.3(QDPR):c.1A>T (p.Met1Leu)
|
rs1034528249
|
0.00002
|
NM_000335.5(SCN5A):c.4498C>G (p.Leu1500Val)
|
rs199473266
|
0.00002
|
NM_000350.3(ABCA4):c.2827C>T (p.Arg943Trp)
|
rs61749446
|
0.00002
|
NM_000360.4(TH):c.1189G>A (p.Gly397Arg)
|
rs1264884607
|
0.00002
|
NM_000398.7(CYB5R3):c.875G>A (p.Gly292Asp)
|
rs121965016
|
0.00002
|
NM_000400.4(ERCC2):c.1479+2dup
|
rs776705174
|
0.00002
|
NM_000404.4(GLB1):c.203G>A (p.Arg68Gln)
|
rs572237881
|
0.00002
|
NM_000404.4(GLB1):c.557A>C (p.Glu186Ala)
|
rs779023917
|
0.00002
|
NM_000404.4(GLB1):c.716C>T (p.Thr239Met)
|
rs746766232
|
0.00002
|
NM_000410.4(HFE):c.892G>T (p.Glu298Ter)
|
rs749553271
|
0.00002
|
NM_000426.4(LAMA2):c.4876C>T (p.Gln1626Ter)
|
rs369776766
|
0.00002
|
NM_000434.4(NEU1):c.893C>T (p.Ala298Val)
|
rs104893981
|
0.00002
|
NM_000440.3(PDE6A):c.1685G>A (p.Arg562Gln)
|
rs373537826
|
0.00002
|
NM_000478.6(ALPL):c.484G>A (p.Gly162Ser)
|
rs760029254
|
0.00002
|
NM_000478.6(ALPL):c.815G>A (p.Arg272His)
|
rs781272386
|
0.00002
|
NM_000492.4(CFTR):c.165-3C>T
|
rs200337193
|
0.00002
|
NM_000492.4(CFTR):c.490-1G>A
|
rs397508734
|
0.00002
|
NM_000512.5(GALNS):c.245C>T (p.Ser82Leu)
|
rs371429653
|
0.00002
|
NM_000512.5(GALNS):c.986A>C (p.His329Pro)
|
rs760892654
|
0.00002
|
NM_000520.6(HEXA):c.436del (p.Val146fs)
|
rs1057517174
|
0.00002
|
NM_000521.4(HEXB):c.851G>A (p.Arg284Gln)
|
rs1352786910
|
0.00002
|
NM_000538.4(RFXAP):c.127C>T (p.Gln43Ter)
|
rs1313207845
|
0.00002
|
NM_000540.3(RYR1):c.14918C>T (p.Pro4973Leu)
|
rs146876145
|
0.00002
|
NM_000540.3(RYR1):c.6838G>A (p.Val2280Ile)
|
rs193922797
|
0.00002
|
NM_000543.5(SMPD1):c.1054G>T (p.Glu352Ter)
|
rs201550531
|
0.00002
|
NM_000552.5(VWF):c.7887+2T>A
|
rs113814258
|
0.00002
|
NM_000823.4(GHRHR):c.527C>T (p.Ala176Val)
|
rs774281185
|
0.00002
|
NM_000942.5(PPIB):c.313G>A (p.Gly105Arg)
|
rs137853866
|
0.00002
|
NM_001018115.3(FANCD2):c.3817C>T (p.Arg1273Ter)
|
rs745930696
|
0.00002
|
NM_001032386.2(SUOX):c.1096C>T (p.Arg366Cys)
|
rs760901724
|
0.00002
|
NM_001042432.2(CLN3):c.175G>A (p.Ala59Thr)
|
rs765893479
|
0.00002
|
NM_001044385.3(TMEM237):c.553+1G>A
|
rs80034299
|
0.00002
|
NM_001077365.2(POMT1):c.1698+1G>A
|
rs763586263
|
0.00002
|
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys)
|
rs119464998
|
0.00002
|
NM_001083116.3(PRF1):c.3G>A (p.Met1Ile)
|
rs758728749
|
0.00002
|
NM_001142800.2(EYS):c.1766+1G>T
|
rs776204925
|
0.00002
|
NM_001142800.2(EYS):c.9344T>A (p.Val3115Asp)
|
rs748838955
|
0.00002
|
NM_001164277.2(SLC37A4):c.1099G>A (p.Ala367Thr)
|
rs80356492
|
0.00002
|
NM_001242957.3(MAK):c.485C>T (p.Thr162Ile)
|
rs774229391
|
0.00002
|
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg)
|
rs375159973
|
0.00002
|
NM_001267550.2(TTN):c.56572C>T (p.Arg18858Ter)
|
rs745376275
|
0.00002
|
NM_001370658.1(BTD):c.1147T>G (p.Phe383Val)
|
rs104893686
|
0.00002
|
NM_001395413.1(POR):c.1697G>A (p.Cys566Tyr)
|
rs28931607
|
0.00002
|
NM_001673.5(ASNS):c.1393C>T (p.Arg465Ter)
|
rs373774032
|
0.00002
|
NM_002296.4(LBR):c.1535G>A (p.Arg512Gln)
|
rs754049402
|
0.00002
|
NM_002485.5(NBN):c.37+1G>A
|
rs574673404
|
0.00002
|
NM_002662.5(PLD1):c.1219C>T (p.Arg407Ter)
|
rs200206423
|
0.00002
|
NM_002878.4(RAD51D):c.898C>T (p.Arg300Ter)
|
rs750621215
|
0.00002
|
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp)
|
rs267607054
|
0.00002
|
NM_003560.4(PLA2G6):c.680C>T (p.Ala227Val)
|
rs764957976
|
0.00002
|
NM_003859.3(DPM1):c.455G>T (p.Gly152Val)
|
rs587777116
|
0.00002
|
NM_004004.6(GJB2):c.298del (p.His100fs)
|
rs775828835
|
0.00002
|
NM_004004.6(GJB2):c.299A>T (p.His100Leu)
|
rs1422767764
|
0.00002
|
NM_004628.5(XPC):c.2033+1G>A
|
rs764480429
|
0.00002
|
NM_005373.3(MPL):c.1744_1745del (p.Leu582fs)
|
rs770402221
|
0.00002
|
NM_005908.4(MANBA):c.378+1G>A
|
rs142029636
|
0.00002
|
NM_005908.4(MANBA):c.544C>T (p.Arg182Trp)
|
rs374377679
|
0.00002
|
NM_005908.4(MANBA):c.550-1G>A
|
rs760404534
|
0.00002
|
NM_006397.3(RNASEH2A):c.704G>A (p.Arg235Gln)
|
rs75718910
|
0.00002
|
NM_007103.4(NDUFV1):c.365C>T (p.Pro122Leu)
|
rs750831299
|
0.00002
|
NM_007289.4(MME):c.1497+1G>C
|
rs1395068713
|
0.00002
|
NM_007289.4(MME):c.1914+1G>A
|
rs1003705057
|
0.00002
|
NM_012203.2(GRHPR):c.735-1G>A
|
rs180177317
|
0.00002
|
NM_012434.5(SLC17A5):c.507del (p.Ala169_Leu170insTer)
|
rs386833992
|
0.00002
|
NM_013339.4(ALG6):c.257+2dup
|
rs745426479
|
0.00002
|
NM_013382.7(POMT2):c.1261C>T (p.Arg421Trp)
|
rs727502855
|
0.00002
|
NM_013382.7(POMT2):c.881A>G (p.Tyr294Cys)
|
rs587780423
|
0.00002
|
NM_014049.5(ACAD9):c.796C>T (p.Arg266Trp)
|
rs753711253
|
0.00002
|
NM_014252.4(SLC25A15):c.538G>A (p.Glu180Lys)
|
rs104894424
|
0.00002
|
NM_014297.5(ETHE1):c.2T>C (p.Met1Thr)
|
rs1470124674
|
0.00002
|
NM_014625.4(NPHS2):c.890C>T (p.Ala297Val)
|
rs199506378
|
0.00002
|
NM_014855.3(AP5Z1):c.1312-2A>G
|
rs989538601
|
0.00002
|
NM_015047.3(EMC1):c.245C>T (p.Thr82Met)
|
rs869320625
|
0.00002
|
NM_015338.6(ASXL1):c.2077C>T (p.Arg693Ter)
|
rs373221034
|
0.00002
|
NM_015346.4(ZFYVE26):c.5791-6G>A
|
rs771906344
|
0.00002
|
NM_017882.3(CLN6):c.150C>G (p.Tyr50Ter)
|
rs154774640
|
0.00002
|
NM_017882.3(CLN6):c.308G>A (p.Arg103Gln)
|
rs154774634
|
0.00002
|
NM_018006.5(TRMU):c.249-2A>G
|
rs768299416
|
0.00002
|
NM_018706.7(DHTKD1):c.1897-1G>A
|
rs760386662
|
0.00002
|
NM_019098.5(CNGB3):c.1320+4A>G
|
rs1026427970
|
0.00002
|
NM_019892.6(INPP5E):c.1753C>T (p.Arg585Cys)
|
rs763992407
|
0.00002
|
NM_020297.4(ABCC9):c.2554C>T (p.Gln852Ter)
|
rs193922683
|
0.00002
|
NM_020366.4(RPGRIP1):c.1792C>T (p.Arg598Ter)
|
rs775935766
|
0.00002
|
NM_020366.4(RPGRIP1):c.2398G>A (p.Glu800Lys)
|
rs565837539
|
0.00002
|
NM_020442.6(VARS2):c.1834_1835del (p.Leu612fs)
|
rs777028011
|
0.00002
|
NM_021175.4(HAMP):c.223C>T (p.Arg75Ter)
|
rs200488037
|
0.00002
|
NM_022132.5(MCCC2):c.568C>T (p.His190Tyr)
|
rs773774134
|
0.00002
|
NM_024312.5(GNPTAB):c.771G>A (p.Leu257=)
|
rs281865025
|
0.00002
|
NM_024596.5(MCPH1):c.2362C>T (p.Gln788Ter)
|
rs753535530
|
0.00002
|
NM_024649.5(BBS1):c.1110+329C>T
|
rs571170303
|
0.00002
|
NM_024675.4(PALB2):c.212-2A>G
|
rs730881879
|
0.00002
|
NM_024685.4(BBS10):c.1838A>G (p.Tyr613Cys)
|
rs575957641
|
0.00002
|
NM_024809.5(TCTN2):c.703del (p.Leu235fs)
|
rs760830696
|
0.00002
|
NM_024996.7(GFM1):c.521A>G (p.Asn174Ser)
|
rs119470018
|
0.00002
|
NM_025233.7(COASY):c.1237+1G>C
|
rs770235902
|
0.00002
|
NM_025265.4(TSEN2):c.353_354del (p.Gln118fs)
|
rs755246924
|
0.00002
|
NM_030777.4(SLC2A10):c.1330C>T (p.Arg444Ter)
|
rs370547023
|
0.00002
|
NM_032043.3(BRIP1):c.1343G>A (p.Trp448Ter)
|
rs775171520
|
0.00002
|
NM_130468.4(CHST14):c.784G>A (p.Glu262Lys)
|
rs1247205097
|
0.00002
|
NM_138694.4(PKHD1):c.390+1G>T
|
rs752327566
|
0.00002
|
NM_152564.5(VPS13B):c.1504C>T (p.Arg502Ter)
|
rs180177354
|
0.00002
|
NM_152564.5(VPS13B):c.5259dup (p.Gly1754fs)
|
rs786204533
|
0.00002
|
NM_152564.5(VPS13B):c.5845C>T (p.Arg1949Ter)
|
rs180177365
|
0.00002
|
NM_153240.5(NPHP3):c.2369T>C (p.Leu790Pro)
|
rs398124546
|
0.00002
|
NM_176787.5(PIGN):c.284G>A (p.Arg95Gln)
|
rs374704368
|
0.00002
|
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys)
|
rs753966933
|
0.00002
|
NM_206933.4(USH2A):c.14792-2A>G
|
rs137853923
|
0.00002
|
NR_003051.3(RMRP):n.-24_-12dup
|
rs781730798
|
0.00002
|
NM_000016.6(ACADM):c.1042C>T (p.Arg348Cys)
|
rs1648832587
|
0.00001
|
NM_000016.6(ACADM):c.320T>C (p.Leu107Ser)
|
rs746136472
|
0.00001
|
NM_000016.6(ACADM):c.347G>A (p.Cys116Tyr)
|
rs875989859
|
0.00001
|
NM_000018.4(ACADVL):c.1077+1G>T
|
rs140989450
|
0.00001
|
NM_000018.4(ACADVL):c.1217A>C (p.Gln406Pro)
|
rs1384021857
|
0.00001
|
NM_000018.4(ACADVL):c.138+1G>A
|
rs747351687
|
0.00001
|
NM_000018.4(ACADVL):c.538G>A (p.Ala180Thr)
|
rs727503791
|
0.00001
|
NM_000019.4(ACAT1):c.253G>T (p.Glu85Ter)
|
rs748425041
|
0.00001
|
NM_000019.4(ACAT1):c.377G>C (p.Cys126Ser)
|
rs1278227329
|
0.00001
|
NM_000019.4(ACAT1):c.935T>C (p.Ile312Thr)
|
rs120074146
|
0.00001
|
NM_000022.4(ADA):c.377C>A (p.Pro126Gln)
|
rs1233957241
|
0.00001
|
NM_000022.4(ADA):c.631C>T (p.Arg211Cys)
|
rs121908740
|
0.00001
|
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro)
|
rs771121666
|
0.00001
|
NM_000030.3(AGXT):c.1084G>A (p.Gly362Ser)
|
rs569643246
|
0.00001
|
NM_000030.3(AGXT):c.116_117dup (p.Ala40fs)
|
rs180177166
|
0.00001
|
NM_000033.4(ABCD1):c.1165C>T (p.Arg389Cys)
|
rs128624215
|
0.00001
|
NM_000038.6(APC):c.5038C>T (p.Gln1680Ter)
|
rs754122018
|
0.00001
|
NM_000046.5(ARSB):c.691-1G>A
|
rs778868348
|
0.00001
|
NM_000048.4(ASL):c.1154G>A (p.Arg385His)
|
rs746120802
|
0.00001
|
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs)
|
rs757109353
|
0.00001
|
NM_000048.4(ASL):c.280C>T (p.Arg94Cys)
|
rs374304304
|
0.00001
|
NM_000048.4(ASL):c.331C>T (p.Arg111Trp)
|
rs138310841
|
0.00001
|
NM_000048.4(ASL):c.978G>C (p.Gln326His)
|
rs764356037
|
0.00001
|
NM_000049.4(ASPA):c.539G>T (p.Gly180Val)
|
rs1014551540
|
0.00001
|
NM_000049.4(ASPA):c.941A>G (p.Ter314Trp)
|
rs745832703
|
0.00001
|
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro)
|
rs730881389
|
0.00001
|
NM_000051.4(ATM):c.6095+1G>A
|
rs587781584
|
0.00001
|
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)
|
rs202206540
|
0.00001
|
NM_000051.4(ATM):c.6573-2A>G
|
rs751168951
|
0.00001
|
NM_000051.4(ATM):c.8293G>A (p.Gly2765Ser)
|
rs748634900
|
0.00001
|
NM_000051.4(ATM):c.8505C>A (p.Cys2835Ter)
|
rs587781597
|
0.00001
|
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter)
|
rs876658716
|
0.00001
|
NM_000051.4(ATM):c.9023G>A (p.Arg3008His)
|
rs587781894
|
0.00001
|
NM_000053.4(ATP7B):c.1285+2T>A
|
rs759749626
|
0.00001
|
NM_000053.4(ATP7B):c.1946+6T>C
|
rs751287778
|
0.00001
|
NM_000053.4(ATP7B):c.2122-8T>G
|
rs193922102
|
0.00001
|
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=)
|
rs372979339
|
0.00001
|
NM_000053.4(ATP7B):c.2297C>T (p.Thr766Met)
|
rs121907997
|
0.00001
|
NM_000053.4(ATP7B):c.2575+1G>C
|
rs766149114
|
0.00001
|
NM_000053.4(ATP7B):c.2905C>T (p.Arg969Trp)
|
rs774028495
|
0.00001
|
NM_000053.4(ATP7B):c.2953T>C (p.Cys985Arg)
|
rs193922104
|
0.00001
|
NM_000053.4(ATP7B):c.3877G>A (p.Glu1293Lys)
|
rs776300396
|
0.00001
|
NM_000053.4(ATP7B):c.399G>A (p.Trp133Ter)
|
rs1033235740
|
0.00001
|
NM_000053.4(ATP7B):c.4150dup (p.Tyr1384fs)
|
rs1555282316
|
0.00001
|
NM_000054.7(AVPR2):c.963C>A (p.Asn321Lys)
|
rs193922123
|
0.00001
|
NM_000055.4(BCHE):c.1072T>A (p.Leu358Ile)
|
rs121918557
|
0.00001
|
NM_000055.4(BCHE):c.1240C>T (p.Arg414Cys)
|
rs745364489
|
0.00001
|
NM_000057.4(BLM):c.3020-258A>G
|
rs1301751251
|
0.00001
|
NM_000059.4(BRCA2):c.4037del (p.Thr1346fs)
|
rs1162394508
|
0.00001
|
NM_000059.4(BRCA2):c.8063T>C (p.Leu2688Pro)
|
rs80359045
|
0.00001
|
NM_000059.4(BRCA2):c.8177A>G (p.Tyr2726Cys)
|
rs80359064
|
0.00001
|
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp)
|
rs80359075
|
0.00001
|
NM_000070.3(CAPN3):c.1070G>A (p.Arg357Gln)
|
rs988027905
|
0.00001
|
NM_000070.3(CAPN3):c.145C>T (p.Arg49Cys)
|
rs794726871
|
0.00001
|
NM_000071.3(CBS):c.1081G>A (p.Ala361Thr)
|
rs745764562
|
0.00001
|
NM_000071.3(CBS):c.1109G>A (p.Cys370Tyr)
|
rs757920190
|
0.00001
|
NM_000071.3(CBS):c.982G>A (p.Asp328Asn)
|
rs758447354
|
0.00001
|
NM_000073.3(CD3G):c.271C>T (p.Gln91Ter)
|
rs1948391148
|
0.00001
|
NM_000079.4(CHRNA1):c.2T>C (p.Met1Thr)
|
rs779169597
|
0.00001
|
NM_000082.4(ERCC8):c.802C>T (p.Arg268Ter)
|
rs370657735
|
0.00001
|
NM_000089.4(COL1A2):c.298G>A (p.Gly100Ser)
|
rs1410254723
|
0.00001
|
NM_000090.4(COL3A1):c.2627G>C (p.Gly876Ala)
|
rs1158155272
|
0.00001
|
NM_000091.5(COL4A3):c.3210+1G>A
|
rs1553762314
|
0.00001
|
NM_000091.5(COL4A3):c.443G>T (p.Gly148Val)
|
rs775373641
|
0.00001
|
NM_000091.5(COL4A3):c.4793T>G (p.Leu1598Arg)
|
rs752452590
|
0.00001
|
NM_000091.5(COL4A3):c.520G>A (p.Gly174Arg)
|
rs1014839148
|
0.00001
|
NM_000102.4(CYP17A1):c.1073G>A (p.Arg358Gln)
|
rs104894139
|
0.00001
|
NM_000102.4(CYP17A1):c.3G>A (p.Met1Ile)
|
rs61754262
|
0.00001
|
NM_000104.4(CYP1B1):c.1267A>T (p.Asn423Tyr)
|
rs104893629
|
0.00001
|
NM_000104.4(CYP1B1):c.1A>G (p.Met1Val)
|
rs757520959
|
0.00001
|
NM_000104.4(CYP1B1):c.578C>T (p.Pro193Leu)
|
rs529769268
|
0.00001
|
NM_000104.4(CYP1B1):c.985G>A (p.Gly329Ser)
|
rs777678299
|
0.00001
|
NM_000110.4(DPYD):c.1863G>A (p.Trp621Ter)
|
rs1057516388
|
0.00001
|
NM_000110.4(DPYD):c.3G>A (p.Met1Ile)
|
rs768020954
|
0.00001
|
NM_000110.4(DPYD):c.661G>T (p.Glu221Ter)
|
rs146170505
|
0.00001
|
NM_000112.4(SLC26A2):c.145del (p.Arg49fs)
|
rs1265764649
|
0.00001
|
NM_000122.2(ERCC3):c.657+1G>A
|
rs56116802
|
0.00001
|
NM_000123.4(ERCC5):c.2413G>A (p.Gly805Arg)
|
rs899478069
|
0.00001
|
NM_000124.4(ERCC6):c.1526+1G>T
|
rs371739894
|
0.00001
|
NM_000126.4(ETFA):c.470T>G (p.Val157Gly)
|
rs119458969
|
0.00001
|
NM_000128.4(F11):c.1546G>A (p.Val516Met)
|
rs200622588
|
0.00001
|
NM_000135.4(FANCA):c.991del (p.Ser331fs)
|
rs746236214
|
0.00001
|
NM_000136.3(FANCC):c.996+1G>T
|
rs370510954
|
0.00001
|
NM_000138.5(FBN1):c.2057C>A (p.Ala686Asp)
|
rs193922186
|
0.00001
|
NM_000138.5(FBN1):c.4460-8G>A
|
rs193922204
|
0.00001
|
NM_000138.5(FBN1):c.484G>A (p.Ala162Thr)
|
rs193922210
|
0.00001
|
NM_000146.4(FTL):c.1A>G (p.Met1Val)
|
rs139732572
|
0.00001
|
NM_000151.4(G6PC1):c.757del (p.Ile253fs)
|
rs2056092619
|
0.00001
|
NM_000151.4(G6PC1):c.808G>C (p.Gly270Arg)
|
rs1272803483
|
0.00001
|
NM_000152.5(GAA):c.1441del (p.Trp481fs)
|
rs1403500889
|
0.00001
|
NM_000152.5(GAA):c.1564C>T (p.Pro522Ser)
|
rs892129065
|
0.00001
|
NM_000152.5(GAA):c.1820G>A (p.Gly607Asp)
|
rs1393386120
|
0.00001
|
NM_000152.5(GAA):c.2236T>G (p.Trp746Gly)
|
rs1479740763
|
0.00001
|
NM_000152.5(GAA):c.2482-2A>G
|
rs756671283
|
0.00001
|
NM_000152.5(GAA):c.671G>A (p.Arg224Gln)
|
rs200210219
|
0.00001
|
NM_000152.5(GAA):c.743T>C (p.Leu248Pro)
|
rs1443844938
|
0.00001
|
NM_000153.4(GALC):c.582+1G>A
|
rs750881596
|
0.00001
|
NM_000153.4(GALC):c.673G>A (p.Ala225Thr)
|
rs1436074042
|
0.00001
|
NM_000155.4(GALT):c.1014C>G (p.Gly338=)
|
rs111033811
|
0.00001
|
NM_000155.4(GALT):c.601C>T (p.Arg201Cys)
|
rs111033739
|
0.00001
|
NM_000155.4(GALT):c.814C>T (p.Arg272Cys)
|
rs111033766
|
0.00001
|
NM_000155.4(GALT):c.821-7A>G
|
rs767337193
|
0.00001
|
NM_000155.4(GALT):c.982C>T (p.Arg328Cys)
|
rs144993986
|
0.00001
|
NM_000155.4(GALT):c.983G>A (p.Arg328His)
|
rs111033802
|
0.00001
|
NM_000158.4(GBE1):c.1621A>G (p.Asn541Asp)
|
rs1703086906
|
0.00001
|
NM_000158.4(GBE1):c.1883A>G (p.His628Arg)
|
rs137852891
|
0.00001
|
NM_000158.4(GBE1):c.2052+2T>C
|
rs375596642
|
0.00001
|
NM_000159.4(GCDH):c.737C>T (p.Ser246Leu)
|
rs754312389
|
0.00001
|
NM_000159.4(GCDH):c.832C>T (p.Pro278Ser)
|
rs751742575
|
0.00001
|
NM_000162.5(GCK):c.1042A>T (p.Ile348Phe)
|
rs193922260
|
0.00001
|
NM_000162.5(GCK):c.1364T>A (p.Val455Glu)
|
rs753795627
|
0.00001
|
NM_000162.5(GCK):c.370G>A (p.Asp124Asn)
|
rs759072800
|
0.00001
|
NM_000162.5(GCK):c.787T>C (p.Ser263Pro)
|
rs193922331
|
0.00001
|
NM_000162.5(GCK):c.952G>T (p.Gly318Trp)
|
rs193922340
|
0.00001
|
NM_000169.3(GLA):c.1087C>T (p.Arg363Cys)
|
rs797044776
|
0.00001
|
NM_000169.3(GLA):c.868A>C (p.Met290Leu)
|
rs375538532
|
0.00001
|
NM_000169.3(GLA):c.870G>C (p.Met290Ile)
|
rs869312438
|
0.00001
|
NM_000170.3(GLDC):c.1270C>T (p.Arg424Ter)
|
rs386833521
|
0.00001
|
NM_000170.3(GLDC):c.2498C>T (p.Ala833Val)
|
rs1275684568
|
0.00001
|
NM_000170.3(GLDC):c.2614A>T (p.Lys872Ter)
|
rs1430968530
|
0.00001
|
NM_000170.3(GLDC):c.2891dup (p.Tyr964Ter)
|
rs386833572
|
0.00001
|
NM_000178.4(GSS):c.709C>T (p.Arg237Ter)
|
rs201925123
|
0.00001
|
NM_000179.3(MSH6):c.261-1G>C
|
rs863225402
|
0.00001
|
NM_000179.3(MSH6):c.3514_3515insAA (p.Arg1172fs)
|
rs63751327
|
0.00001
|
NM_000179.3(MSH6):c.3660_3663dup (p.Phe1222fs)
|
rs752404604
|
0.00001
|
NM_000180.4(GUCY2D):c.1052A>G (p.Tyr351Cys)
|
rs61749676
|
0.00001
|
NM_000181.4(GUSB):c.1084G>A (p.Asp362Asn)
|
rs398123234
|
0.00001
|
NM_000181.4(GUSB):c.1145G>A (p.Arg382His)
|
rs764018631
|
0.00001
|
NM_000182.5(HADHA):c.1690-2A>G
|
rs1057516217
|
0.00001
|
NM_000183.3(HADHB):c.255-2A>G
|
rs1220650950
|
0.00001
|
NM_000183.3(HADHB):c.583C>T (p.Arg195Ter)
|
rs552292698
|
0.00001
|
NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)
|
rs770225915
|
0.00001
|
NM_000199.5(SGSH):c.130G>A (p.Ala44Thr)
|
rs1057521146
|
0.00001
|
NM_000199.5(SGSH):c.448C>T (p.Arg150Trp)
|
rs1479831530
|
0.00001
|
NM_000199.5(SGSH):c.629G>A (p.Trp210Ter)
|
rs886041370
|
0.00001
|
NM_000209.4(PDX1):c.773A>G (p.Glu258Gly)
|
rs193922360
|
0.00001
|
NM_000215.4(JAK3):c.1767C>T (p.Gly589=)
|
rs193922362
|
0.00001
|
NM_000218.3(KCNQ1):c.1085A>G (p.Lys362Arg)
|
rs12720458
|
0.00001
|
NM_000228.3(LAMB3):c.1594C>T (p.Arg532Ter)
|
rs757145297
|
0.00001
|
NM_000228.3(LAMB3):c.1756C>T (p.Gln586Ter)
|
rs749842554
|
0.00001
|
NM_000228.3(LAMB3):c.628+1G>A
|
rs1057516539
|
0.00001
|
NM_000231.3(SGCG):c.385+2T>C
|
rs200206447
|
0.00001
|
NM_000235.4(LIPA):c.350_351insCC (p.Met117fs)
|
rs753796180
|
0.00001
|
NM_000235.4(LIPA):c.920C>A (p.Ala307Asp)
|
rs754964952
|
0.00001
|
NM_000243.3(MEFV):c.1894G>A (p.Gly632Ser)
|
rs104895128
|
0.00001
|
NM_000249.4(MLH1):c.1517T>C (p.Val506Ala)
|
rs63749909
|
0.00001
|
NM_000249.4(MLH1):c.244A>G (p.Thr82Ala)
|
rs587778998
|
0.00001
|
NM_000255.4(MMUT):c.2206C>T (p.Leu736Phe)
|
rs753461919
|
0.00001
|
NM_000255.4(MMUT):c.753+1G>A
|
rs1028877309
|
0.00001
|
NM_000257.4(MYH7):c.1370T>C (p.Ile457Thr)
|
rs397516103
|
0.00001
|
NM_000257.4(MYH7):c.3578G>A (p.Arg1193His)
|
rs397516187
|
0.00001
|
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp)
|
rs145213771
|
0.00001
|
NM_000257.4(MYH7):c.619A>C (p.Lys207Gln)
|
rs727504273
|
0.00001
|
NM_000263.4(NAGLU):c.1021+1G>T
|
rs1447465424
|
0.00001
|
NM_000271.5(NPC1):c.1165C>T (p.Arg389Cys)
|
rs1053321823
|
0.00001
|
NM_000271.5(NPC1):c.1947+5G>C
|
rs770321568
|
0.00001
|
NM_000271.5(NPC1):c.2833G>A (p.Asp945Asn)
|
rs1428599096
|
0.00001
|
NM_000271.5(NPC1):c.3230G>A (p.Arg1077Gln)
|
rs534280005
|
0.00001
|
NM_000271.5(NPC1):c.3259T>C (p.Phe1087Leu)
|
rs746715353
|
0.00001
|
NM_000271.5(NPC1):c.3570_3573dup (p.Ala1192fs)
|
rs750323164
|
0.00001
|
NM_000274.4(OAT):c.722C>T (p.Pro241Leu)
|
rs121965051
|
0.00001
|
NM_000275.3(OCA2):c.1842+1G>T
|
rs387906240
|
0.00001
|
NM_000277.3(PAH):c.1200-1G>A
|
rs62507322
|
0.00001
|
NM_000277.3(PAH):c.1259G>T (p.Arg420Met)
|
rs767075719
|
0.00001
|
NM_000277.3(PAH):c.212G>A (p.Arg71His)
|
rs62508695
|
0.00001
|
NM_000277.3(PAH):c.241A>C (p.Thr81Pro)
|
rs62509017
|
0.00001
|
NM_000277.3(PAH):c.442G>A (p.Gly148Ser)
|
rs80297647
|
0.00001
|
NM_000277.3(PAH):c.632C>A (p.Pro211Gln)
|
rs281865443
|
0.00001
|
NM_000277.3(PAH):c.712A>C (p.Thr238Pro)
|
rs199475577
|
0.00001
|
NM_000277.3(PAH):c.982A>G (p.Thr328Ala)
|
rs199475616
|
0.00001
|
NM_000287.4(PEX6):c.1084_1085del (p.Ile362fs)
|
rs1408438094
|
0.00001
|
NM_000287.4(PEX6):c.1231A>G (p.Met411Val)
|
rs752177240
|
0.00001
|
NM_000287.4(PEX6):c.1233+1G>A
|
rs763459576
|
0.00001
|
NM_000287.4(PEX6):c.2626C>T (p.Arg876Trp)
|
rs267608246
|
0.00001
|
NM_000288.4(PEX7):c.429del (p.Val144fs)
|
rs61753248
|
0.00001
|
NM_000289.6(PFKM):c.1191+1G>A
|
rs746348793
|
0.00001
|
NM_000292.3(PHKA2):c.2606C>G (p.Pro869Arg)
|
rs777137574
|
0.00001
|
NM_000293.3(PHKB):c.307C>T (p.Arg103Ter)
|
rs145166656
|
0.00001
|
NM_000303.3(PMM2):c.178G>T (p.Val60Leu)
|
rs759513930
|
0.00001
|
NM_000303.3(PMM2):c.255G>A (p.Gln85=)
|
rs115344041
|
0.00001
|
NM_000303.3(PMM2):c.53C>G (p.Thr18Ser)
|
rs760265100
|
0.00001
|
NM_000303.3(PMM2):c.66+1G>T
|
rs937726878
|
0.00001
|
NM_000308.4(CTSA):c.1123C>T (p.Arg375Ter)
|
rs1189568492
|
0.00001
|
NM_000310.4(PPT1):c.353G>A (p.Gly118Asp)
|
rs143657539
|
0.00001
|
NM_000310.4(PPT1):c.739T>C (p.Tyr247His)
|
rs386833665
|
0.00001
|
NM_000317.3(PTS):c.104A>G (p.Glu35Gly)
|
rs1328320990
|
0.00001
|
NM_000329.3(RPE65):c.1223T>C (p.Leu408Pro)
|
rs62636298
|
0.00001
|
NM_000335.5(SCN5A):c.1890G>A (p.Thr630=)
|
rs1204915217
|
0.00001
|
NM_000335.5(SCN5A):c.689T>C (p.Ile230Thr)
|
rs199473073
|
0.00001
|
NM_000352.6(ABCC8):c.1671+1G>C
|
rs1057516509
|
0.00001
|
NM_000352.6(ABCC8):c.2202del (p.Ala736fs)
|
rs1554924035
|
0.00001
|
NM_000352.6(ABCC8):c.2857C>T (p.Gln953Ter)
|
rs541269678
|
0.00001
|
NM_000352.6(ABCC8):c.76T>A (p.Cys26Ser)
|
rs1462559571
|
0.00001
|
NM_000352.6(ABCC8):c.946G>A (p.Gly316Arg)
|
rs1201126343
|
0.00001
|
NM_000353.3(TAT):c.1298G>A (p.Arg433Gln)
|
rs775488556
|
0.00001
|
NM_000353.3(TAT):c.912+1G>A
|
rs2044196815
|
0.00001
|
NM_000359.3(TGM1):c.1186C>T (p.Arg396Cys)
|
rs543521135
|
0.00001
|
NM_000359.3(TGM1):c.791G>A (p.Arg264Gln)
|
rs781006633
|
0.00001
|
NM_000371.4(TTR):c.88T>C (p.Cys30Arg)
|
rs121918083
|
0.00001
|
NM_000382.3(ALDH3A2):c.1268G>A (p.Arg423His)
|
rs768290318
|
0.00001
|
NM_000383.4(AIRE):c.463G>A (p.Gly155Ser)
|
rs193922418
|
0.00001
|
NM_000384.3(APOB):c.10679A>G (p.Tyr3560Cys)
|
rs745721296
|
0.00001
|
NM_000388.4(CASR):c.1393C>T (p.Arg465Trp)
|
rs751217000
|
0.00001
|
NM_000388.4(CASR):c.2393C>T (p.Pro798Leu)
|
rs1060502856
|
0.00001
|
NM_000388.4(CASR):c.269A>C (p.Asn90Thr)
|
rs193922439
|
0.00001
|
NM_000388.4(CASR):c.427G>A (p.Gly143Arg)
|
rs769256610
|
0.00001
|
NM_000388.4(CASR):c.974G>A (p.Gly325Glu)
|
rs193922444
|
0.00001
|
NM_000391.4(TPP1):c.481C>T (p.Gln161Ter)
|
rs764256845
|
0.00001
|
NM_000391.4(TPP1):c.833A>G (p.Gln278Arg)
|
rs796053439
|
0.00001
|
NM_000400.4(ERCC2):c.595-10G>A
|
rs761737358
|
0.00001
|
NM_000404.4(GLB1):c.1038G>T (p.Lys346Asn)
|
rs749980306
|
0.00001
|
NM_000414.4(HSD17B4):c.1210-11C>G
|
rs779466683
|
0.00001
|
NM_000414.4(HSD17B4):c.526A>G (p.Asn176Asp)
|
rs775766910
|
0.00001
|
NM_000433.4(NCF2):c.1026G>A (p.Lys342=)
|
rs1459123494
|
0.00001
|
NM_000434.4(NEU1):c.692T>A (p.Leu231His)
|
rs762400331
|
0.00001
|
NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile)
|
rs786204426
|
0.00001
|
NM_000443.4(ABCB4):c.3486+1G>A
|
rs764513998
|
0.00001
|
NM_000444.6(PHEX):c.*231A>G
|
rs946863800
|
0.00001
|
NM_000451.4(SHOX):c.347A>G (p.Lys116Arg)
|
rs193922466
|
0.00001
|
NM_000465.4(BARD1):c.1205C>A (p.Ser402Ter)
|
rs796666047
|
0.00001
|
NM_000466.3(PEX1):c.547C>T (p.Arg183Ter)
|
rs149806989
|
0.00001
|
NM_000478.6(ALPL):c.1022A>G (p.His341Arg)
|
rs1382219911
|
0.00001
|
NM_000478.6(ALPL):c.1166C>A (p.Thr389Asn)
|
rs746390776
|
0.00001
|
NM_000478.6(ALPL):c.1182dup (p.Ile395fs)
|
rs754826836
|
0.00001
|
NM_000478.6(ALPL):c.1354G>A (p.Glu452Lys)
|
rs966212736
|
0.00001
|
NM_000478.6(ALPL):c.1403C>T (p.Ala468Val)
|
rs766656419
|
0.00001
|
NM_000478.6(ALPL):c.791A>G (p.Lys264Arg)
|
rs786204442
|
0.00001
|
NM_000478.6(ALPL):c.997+1G>T
|
rs1292415045
|
0.00001
|
NM_000481.4(AMT):c.317T>C (p.Ile106Thr)
|
rs1249645541
|
0.00001
|
NM_000486.6(AQP2):c.560G>A (p.Arg187His)
|
rs193922495
|
0.00001
|
NM_000487.6(ARSA):c.370G>A (p.Gly124Ser)
|
rs74315461
|
0.00001
|
NM_000492.4(CFTR):c.1315C>T (p.Pro439Ser)
|
rs397508187
|
0.00001
|
NM_000492.4(CFTR):c.1394C>A (p.Thr465Asn)
|
rs758900656
|
0.00001
|
NM_000492.4(CFTR):c.166G>A (p.Glu56Lys)
|
rs397508256
|
0.00001
|
NM_000492.4(CFTR):c.1724T>A (p.Phe575Tyr)
|
rs773569201
|
0.00001
|
NM_000492.4(CFTR):c.2210C>T (p.Ser737Phe)
|
rs186089140
|
0.00001
|
NM_000492.4(CFTR):c.2490+2T>C
|
rs1057516216
|
0.00001
|
NM_000492.4(CFTR):c.2797A>G (p.Arg933Gly)
|
rs397508436
|
0.00001
|
NM_000492.4(CFTR):c.3222T>A (p.Phe1074Leu)
|
rs186045772
|
0.00001
|
NM_000492.4(CFTR):c.3294G>C (p.Trp1098Cys)
|
rs397508533
|
0.00001
|
NM_000492.4(CFTR):c.377G>A (p.Gly126Asp)
|
rs397508609
|
0.00001
|
NM_000492.4(CFTR):c.4243-2A>G
|
rs397508705
|
0.00001
|
NM_000492.4(CFTR):c.4252del (p.Glu1418fs)
|
rs1554397750
|
0.00001
|
NM_000492.4(CFTR):c.476T>C (p.Leu159Ser)
|
rs397508727
|
0.00001
|
NM_000492.4(CFTR):c.869+5G>A
|
rs533959068
|
0.00001
|
NM_000492.4(CFTR):c.870-2A>G
|
rs1290078234
|
0.00001
|
NM_000497.4(CYP11B1):c.187G>C (p.Asp63His)
|
rs5282
|
0.00001
|
NM_000497.4(CYP11B1):c.235T>A (p.Phe79Ile)
|
rs1489638195
|
0.00001
|
NM_000497.4(CYP11B1):c.264G>A (p.Met88Ile)
|
rs193922539
|
0.00001
|
NM_000497.4(CYP11B1):c.413G>A (p.Arg138His)
|
rs193922540
|
0.00001
|
NM_000497.4(CYP11B1):c.476C>T (p.Pro159Leu)
|
rs370266763
|
0.00001
|
NM_000497.4(CYP11B1):c.595+1G>A
|
rs1264073726
|
0.00001
|
NM_000500.9(CYP21A2):c.710T>A (p.Ile237Asn)
|
rs1554299737
|
0.00001
|
NM_000500.9(CYP21A2):c.713T>A (p.Val238Glu)
|
rs12530380
|
0.00001
|
NM_000512.5(GALNS):c.281G>A (p.Arg94His)
|
rs727503946
|
0.00001
|
NM_000517.6(HBA2):c.98T>G (p.Met33Arg)
|
rs1468615416
|
0.00001
|
NM_000518.4(HBB):c.374C>G (p.Pro125Arg)
|
rs33983276
|
0.00001
|
NM_000518.5(HBB):c.-136C>T
|
rs33994806
|
0.00001
|
NM_000520.6(HEXA):c.1393G>A (p.Asp465Asn)
|
rs750727201
|
0.00001
|
NM_000520.6(HEXA):c.187G>T (p.Glu63Ter)
|
rs759092928
|
0.00001
|
NM_000520.6(HEXA):c.233G>A (p.Trp78Ter)
|
rs769035623
|
0.00001
|
NM_000520.6(HEXA):c.772G>C (p.Asp258His)
|
rs121907971
|
0.00001
|
NM_000520.6(HEXA):c.972T>A (p.Val324=)
|
rs28942072
|
0.00001
|
NM_000521.4(HEXB):c.1165dup (p.Gln389fs)
|
rs1749680051
|
0.00001
|
NM_000521.4(HEXB):c.1242G>A (p.Lys414=)
|
rs1309123671
|
0.00001
|
NM_000521.4(HEXB):c.1417G>A (p.Gly473Ser)
|
rs762892362
|
0.00001
|
NM_000521.4(HEXB):c.1508+1G>A
|
rs758459585
|
0.00001
|
NM_000521.4(HEXB):c.1598G>A (p.Arg533His)
|
rs1291555996
|
0.00001
|
NM_000521.4(HEXB):c.508C>T (p.Arg170Ter)
|
rs753823903
|
0.00001
|
NM_000521.4(HEXB):c.558+5G>A
|
rs892920643
|
0.00001
|
NM_000521.4(HEXB):c.611G>A (p.Gly204Glu)
|
rs762821794
|
0.00001
|
NM_000527.5(LDLR):c.1238C>T (p.Thr413Met)
|
rs368562025
|
0.00001
|
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr)
|
rs730882102
|
0.00001
|
NM_000527.5(LDLR):c.1502C>T (p.Ala501Val)
|
rs755667663
|
0.00001
|
NM_000527.5(LDLR):c.1691A>G (p.Asn564Ser)
|
rs758194385
|
0.00001
|
NM_000527.5(LDLR):c.1951G>A (p.Asp651Asn)
|
rs730882110
|
0.00001
|
NM_000528.4(MAN2B1):c.1645-2A>T
|
rs891030696
|
0.00001
|
NM_000528.4(MAN2B1):c.222C>A (p.Asp74Glu)
|
rs746702002
|
0.00001
|
NM_000531.6(OTC):c.1061T>G (p.Phe354Cys)
|
rs72558495
|
0.00001
|
NM_000532.5(PCCB):c.1535G>A (p.Arg512His)
|
rs764697873
|
0.00001
|
NM_000535.7(PMS2):c.164-1G>A
|
rs763308607
|
0.00001
|
NM_000535.7(PMS2):c.2249G>A (p.Gly750Asp)
|
rs587779337
|
0.00001
|
NM_000535.7(PMS2):c.538-2A>G
|
rs758304323
|
0.00001
|
NM_000535.7(PMS2):c.706-2A>G
|
rs745487791
|
0.00001
|
NM_000536.4(RAG2):c.328A>C (p.Met110Leu)
|
rs193922575
|
0.00001
|
NM_000540.3(RYR1):c.3362A>G (p.Tyr1121Cys)
|
rs756138074
|
0.00001
|
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg)
|
rs794727629
|
0.00001
|
NM_000543.5(SMPD1):c.152A>T (p.Asp51Val)
|
rs748589919
|
0.00001
|
NM_000543.5(SMPD1):c.1730A>G (p.His577Arg)
|
rs1554935669
|
0.00001
|
NM_000543.5(SMPD1):c.528G>A (p.Trp176Ter)
|
rs1554934212
|
0.00001
|
NM_000543.5(SMPD1):c.680T>C (p.Leu227Pro)
|
rs764317969
|
0.00001
|
NM_000543.5(SMPD1):c.973C>G (p.Pro325Ala)
|
rs761308217
|
0.00001
|
NM_000545.8(HNF1A):c.1663C>T (p.Leu555Phe)
|
rs193922587
|
0.00001
|
NM_000546.6(TP53):c.542G>A (p.Arg181His)
|
rs397514495
|
0.00001
|
NM_000551.4(VHL):c.242C>T (p.Pro81Leu)
|
rs193922608
|
0.00001
|
NM_000552.5(VWF):c.3613C>T (p.Arg1205Cys)
|
rs373787920
|
0.00001
|
NM_000642.3(AGL):c.94C>T (p.Gln32Ter)
|
rs786204489
|
0.00001
|
NM_000709.4(BCKDHA):c.1061G>A (p.Trp354Ter)
|
rs1214763792
|
0.00001
|
NM_000784.4(CYP27A1):c.1415G>C (p.Gly472Ala)
|
rs200883871
|
0.00001
|
NM_000784.4(CYP27A1):c.1537C>T (p.Arg513Cys)
|
rs560108684
|
0.00001
|
NM_001002294.3(FMO3):c.198G>T (p.Met66Ile)
|
rs72549323
|
0.00001
|
NM_001002294.3(FMO3):c.370C>T (p.Gln124Ter)
|
rs1384237868
|
0.00001
|
NM_001005242.3(PKP2):c.1034+1G>A
|
rs869025496
|
0.00001
|
NM_001018115.3(FANCD2):c.782A>T (p.Lys261Met)
|
rs778289599
|
0.00001
|
NM_001032386.2(SUOX):c.1534G>T (p.Asp512Tyr)
|
rs770792767
|
0.00001
|
NM_001035.3(RYR2):c.4040T>G (p.Met1347Arg)
|
rs193922625
|
0.00001
|
NM_001040616.3(LINS1):c.1178T>G (p.Leu393Ter)
|
rs149644940
|
0.00001
|
NM_001042432.2(CLN3):c.1247A>G (p.Asp416Gly)
|
rs386833703
|
0.00001
|
NM_001042432.2(CLN3):c.214C>T (p.Gln72Ter)
|
rs386833709
|
0.00001
|
NM_001048174.2(MUTYH):c.254G>A (p.Trp85Ter)
|
rs888691362
|
0.00001
|
NM_001048174.2(MUTYH):c.268G>T (p.Glu90Ter)
|
rs1553129892
|
0.00001
|
NM_001048174.2(MUTYH):c.470G>A (p.Arg157Gln)
|
rs533899702
|
0.00001
|
NM_001048174.2(MUTYH):c.773G>A (p.Gly258Glu)
|
rs730881833
|
0.00001
|
NM_001077365.2(POMT1):c.699+67G>A
|
rs776061161
|
0.00001
|
NM_001077365.2(POMT1):c.699+68T>C
|
rs759254028
|
0.00001
|
NM_001077620.3(PRCD):c.74+1G>A
|
rs779066277
|
0.00001
|
NM_001080476.3(GRXCR1):c.469G>T (p.Glu157Ter)
|
rs774844858
|
0.00001
|
NM_001083116.3(PRF1):c.1018G>A (p.Asp340Asn)
|
rs754079962
|
0.00001
|
NM_001083116.3(PRF1):c.1442A>C (p.Gln481Pro)
|
rs764596094
|
0.00001
|
NM_001097577.3(ANG):c.155G>A (p.Ser52Asn)
|
rs121909542
|
0.00001
|
NM_001113378.2(FANCI):c.2568_2569del (p.Gly857fs)
|
rs1385885533
|
0.00001
|
NM_001126108.2(SLC12A3):c.2555G>A (p.Arg852His)
|
rs751929135
|
0.00001
|
NM_001127649.3(PEX26):c.667+2T>C
|
rs267608191
|
0.00001
|
NM_001128178.3(NPHP1):c.329+1G>A
|
rs376974221
|
0.00001
|
NM_001130987.2(DYSF):c.4631A>G (p.Tyr1544Cys)
|
rs757820496
|
0.00001
|
NM_001130987.2(DYSF):c.6021G>A (p.Trp2007Ter)
|
rs1553420848
|
0.00001
|
NM_001134831.2(AHI1):c.2105C>T (p.Thr702Met)
|
rs756276537
|
0.00001
|
NM_001142800.2(EYS):c.1056+1G>A
|
rs1195522061
|
0.00001
|
NM_001142800.2(EYS):c.8206G>C (p.Ala2736Pro)
|
rs1250317776
|
0.00001
|
NM_001142800.2(EYS):c.8984T>A (p.Ile2995Asn)
|
rs1211856182
|
0.00001
|
NM_001163809.2(WDR81):c.1358dup (p.Tyr453Ter)
|
rs1194329020
|
0.00001
|
NM_001164277.2(SLC37A4):c.381+2T>G
|
rs782645078
|
0.00001
|
NM_001164277.2(SLC37A4):c.448G>A (p.Gly150Arg)
|
rs193302883
|
0.00001
|
NM_001164277.2(SLC37A4):c.652C>T (p.Gln218Ter)
|
rs551439289
|
0.00001
|
NM_001164508.2(NEB):c.1849del (p.Asp617fs)
|
rs755531536
|
0.00001
|
NM_001164508.2(NEB):c.20577+2T>C
|
rs1185654671
|
0.00001
|
NM_001164508.2(NEB):c.20787+2T>C
|
rs1337287633
|
0.00001
|
NM_001164508.2(NEB):c.21793C>T (p.Arg7265Ter)
|
rs750900690
|
0.00001
|
NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter)
|
rs748922882
|
0.00001
|
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter)
|
rs760935667
|
0.00001
|
NM_001164508.2(NEB):c.24353_24356dup (p.Met8119fs)
|
rs1257495033
|
0.00001
|
NM_001164508.2(NEB):c.294+2T>C
|
rs773952935
|
0.00001
|
NM_001164508.2(NEB):c.3879+1G>A
|
rs746999970
|
0.00001
|
NM_001164508.2(NEB):c.6937C>T (p.Arg2313Ter)
|
rs756363951
|
0.00001
|
NM_001164508.2(NEB):c.7228-1G>A
|
rs1057516996
|
0.00001
|
NM_001174089.2(SLC4A11):c.1201G>A (p.Gly401Arg)
|
rs1233324021
|
0.00001
|
NM_001174089.2(SLC4A11):c.575del (p.Val192fs)
|
rs2067871973
|
0.00001
|
NM_001174089.2(SLC4A11):c.649C>T (p.Arg217Cys)
|
rs762942751
|
0.00001
|
NM_001174089.2(SLC4A11):c.758C>T (p.Ala253Val)
|
rs1298347142
|
0.00001
|
NM_001182.5(ALDH7A1):c.1232C>T (p.Pro411Leu)
|
rs780233639
|
0.00001
|
NM_001206427.2(ATP5MK):c.87+2dup
|
rs1339841048
|
0.00001
|
NM_001242957.3(MAK):c.101+1G>A
|
rs1300819259
|
0.00001
|
NM_001242957.3(MAK):c.1698C>A (p.Tyr566Ter)
|
rs186643840
|
0.00001
|
NM_001243279.3(ACSF3):c.1536G>A (p.Trp512Ter)
|
rs1025201214
|
0.00001
|
NM_001243279.3(ACSF3):c.1580C>G (p.Ser527Ter)
|
rs1457774840
|
0.00001
|
NM_001256317.3(TMPRSS3):c.647G>A (p.Arg216His)
|
rs137853000
|
0.00001
|
NM_001256317.3(TMPRSS3):c.743C>T (p.Thr248Met)
|
rs768140716
|
0.00001
|
NM_001257180.2(SLC20A2):c.1794+1G>C
|
rs1052304545
|
0.00001
|
NM_001267550.2(TTN):c.82525C>T (p.Arg27509Ter)
|
rs1575649368
|
0.00001
|
NM_001276345.2(TNNT2):c.505C>T (p.Arg169Ter)
|
rs397516469
|
0.00001
|
NM_001278293.3(ARL6):c.362G>A (p.Arg121His)
|
rs765715798
|
0.00001
|
NM_001283009.2(RTEL1):c.1476G>T (p.Met492Ile)
|
rs370343781
|
0.00001
|
NM_001297.5(CNGB1):c.2285G>A (p.Arg762His)
|
rs760373259
|
0.00001
|
NM_001297.5(CNGB1):c.290+2T>C
|
rs1429797650
|
0.00001
|
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser)
|
rs1261821166
|
0.00001
|
NM_001353345.2(SETD1B):c.544+2T>C
|
rs1419959359
|
0.00001
|
NM_001360.3(DHCR7):c.1146C>A (p.Tyr382Ter)
|
rs1555145605
|
0.00001
|
NM_001360.3(DHCR7):c.1222T>C (p.Tyr408His)
|
rs1046560765
|
0.00001
|
NM_001360.3(DHCR7):c.1327C>T (p.Arg443Cys)
|
rs535561852
|
0.00001
|
NM_001360.3(DHCR7):c.1396G>A (p.Val466Met)
|
rs760428437
|
0.00001
|
NM_001363711.2(DUOX2):c.2335-1G>C
|
rs758001307
|
0.00001
|
NM_001367624.2(ZNF469):c.10707C>A (p.Cys3569Ter)
|
rs760186083
|
0.00001
|
NM_001369.3(DNAH5):c.1730G>C (p.Arg577Thr)
|
rs397515541
|
0.00001
|
NM_001370658.1(BTD):c.-17+2T>C
|
rs745648160
|
0.00001
|
NM_001370658.1(BTD):c.250-15del
|
rs587783008
|
0.00001
|
NM_001370658.1(BTD):c.704T>C (p.Ile235Thr)
|
rs397514384
|
0.00001
|
NM_001371596.2(MFSD8):c.416G>A (p.Arg139His)
|
rs749704755
|
0.00001
|
NM_001382.4(DPAGT1):c.739C>T (p.Arg247Trp)
|
rs772988029
|
0.00001
|
NM_001384140.1(PCDH15):c.1997+1G>A
|
rs763797356
|
0.00001
|
NM_001384140.1(PCDH15):c.3717+2dup
|
rs1248401224
|
0.00001
|
NM_001384140.1(PCDH15):c.401G>A (p.Arg134Gln)
|
rs767966376
|
0.00001
|
NM_001384732.1(CPLANE1):c.247G>T (p.Gly83Ter)
|
rs1554117456
|
0.00001
|
NM_001384732.1(CPLANE1):c.4034A>G (p.Gln1345Arg)
|
rs869312898
|
0.00001
|
NM_001386140.1(MTTP):c.1949del (p.Ile650fs)
|
rs1725952378
|
0.00001
|
NM_001395413.1(POR):c.1811A>G (p.Tyr604Cys)
|
rs72557954
|
0.00001
|
NM_001673.5(ASNS):c.1165G>T (p.Glu389Ter)
|
rs948326794
|
0.00001
|
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met)
|
rs1392934477
|
0.00001
|
NM_001876.4(CPT1A):c.727C>T (p.Arg243Ter)
|
rs779893091
|
0.00001
|
NM_001985.3(ETFB):c.571C>T (p.Arg191Cys)
|
rs772976948
|
0.00001
|
NM_002055.5(GFAP):c.1154C>G (p.Ser385Cys)
|
rs797044590
|
0.00001
|
NM_002180.3(IGHMBP2):c.1808G>A (p.Arg603His)
|
rs151079750
|
0.00001
|
NM_002225.5(IVD):c.1184G>A (p.Arg395Gln)
|
rs1477527791
|
0.00001
|
NM_002470.4(MYH3):c.2682+1G>A
|
rs1175557352
|
0.00001
|
NM_002485.5(NBN):c.175C>T (p.Gln59Ter)
|
rs1554568427
|
0.00001
|
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)
|
rs730881864
|
0.00001
|
NM_002485.5(NBN):c.2184+1G>T
|
rs756363734
|
0.00001
|
NM_002485.5(NBN):c.481-2A>T
|
rs751567476
|
0.00001
|
NM_002485.5(NBN):c.60del (p.Gly21fs)
|
rs758708229
|
0.00001
|
NM_002615.7(SERPINF1):c.998-1G>A
|
rs772728968
|
0.00001
|
NM_002617.4(PEX10):c.373C>T (p.Arg125Ter)
|
rs61750434
|
0.00001
|
NM_002637.4(PHKA1):c.2527-1G>T
|
rs1556257317
|
0.00001
|
NM_002693.3(POLG):c.3285C>G (p.Ser1095Arg)
|
rs761649878
|
0.00001
|
NM_002693.3(POLG):c.3527C>T (p.Ser1176Leu)
|
rs776031396
|
0.00001
|
NM_002693.3(POLG):c.425T>C (p.Leu142Pro)
|
rs1064797202
|
0.00001
|
NM_002860.4(ALDH18A1):c.88+1G>A
|
rs556267618
|
0.00001
|
NM_002863.5(PYGL):c.2024C>T (p.Ser675Leu)
|
rs113993986
|
0.00001
|
NM_002878.4(RAD51D):c.442C>T (p.Gln148Ter)
|
rs773906955
|
0.00001
|
NM_003000.3(SDHB):c.380T>G (p.Ile127Ser)
|
rs786201095
|
0.00001
|
NM_003060.4(SLC22A5):c.1006C>T (p.Arg336Ter)
|
rs754008420
|
0.00001
|
NM_003060.4(SLC22A5):c.1072T>A (p.Tyr358Asn)
|
rs61731073
|
0.00001
|
NM_003060.4(SLC22A5):c.1364C>G (p.Pro455Arg)
|
rs1408166345
|
0.00001
|
NM_003060.4(SLC22A5):c.394-16T>A
|
rs775097754
|
0.00001
|
NM_003060.4(SLC22A5):c.557T>C (p.Leu186Pro)
|
rs386134197
|
0.00001
|
NM_003060.4(SLC22A5):c.629A>G (p.Asn210Ser)
|
rs386134198
|
0.00001
|
NM_003119.4(SPG7):c.376+1G>T
|
rs746053679
|
0.00001
|
NM_003172.4(SURF1):c.575G>A (p.Arg192Gln)
|
rs782021521
|
0.00001
|
NM_003172.4(SURF1):c.74G>A (p.Trp25Ter)
|
rs1187982748
|
0.00001
|
NM_003235.5(TG):c.7021G>A (p.Gly2341Ser)
|
rs898275076
|
0.00001
|
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val)
|
rs267607125
|
0.00001
|
NM_003476.5(CSRP3):c.449G>A (p.Cys150Tyr)
|
rs761507504
|
0.00001
|
NM_003640.5(ELP1):c.1461-2A>G
|
rs866046915
|
0.00001
|
NM_003640.5(ELP1):c.3572+1G>A
|
rs571348995
|
0.00001
|
NM_003907.3(EIF2B5):c.337C>T (p.Arg113Cys)
|
rs113994050
|
0.00001
|
NM_003907.3(EIF2B5):c.545C>T (p.Thr182Met)
|
rs113994053
|
0.00001
|
NM_004004.6(GJB2):c.279G>A (p.Met93Ile)
|
rs397516871
|
0.00001
|
NM_004004.6(GJB2):c.339T>G (p.Ser113Arg)
|
rs80338946
|
0.00001
|
NM_004415.4(DSP):c.4518del (p.Arg1506fs)
|
rs1289037294
|
0.00001
|
NM_004415.4(DSP):c.5940dup (p.Tyr1981fs)
|
rs1561701721
|
0.00001
|
NM_004415.4(DSP):c.7066A>T (p.Lys2356Ter)
|
rs1561703331
|
0.00001
|
NM_004453.4(ETFDH):c.652G>A (p.Asp218Asn)
|
rs748289922
|
0.00001
|
NM_004544.4(NDUFA10):c.1A>G (p.Met1Val)
|
rs387906872
|
0.00001
|
NM_004614.5(TK2):c.268C>T (p.Arg90Cys)
|
rs281865489
|
0.00001
|
NM_004628.5(XPC):c.1A>G (p.Met1Val)
|
rs763678756
|
0.00001
|
NM_004646.4(NPHS1):c.2663+2T>G
|
rs762392183
|
0.00001
|
NM_004646.4(NPHS1):c.313G>A (p.Asp105Asn)
|
rs386833932
|
0.00001
|
NM_004646.4(NPHS1):c.728_729del (p.Pro243fs)
|
rs1599845714
|
0.00001
|
NM_004813.4(PEX16):c.859C>T (p.Arg287Cys)
|
rs769772100
|
0.00001
|
NM_004820.5(CYP7B1):c.1088C>T (p.Ser363Phe)
|
rs121908610
|
0.00001
|
NM_004830.4(MED23):c.3353C>G (p.Ser1118Ter)
|
rs769471341
|
0.00001
|
NM_005094.4(SLC27A4):c.1504C>T (p.Arg502Ter)
|
rs587776384
|
0.00001
|
NM_005236.3(ERCC4):c.1102+1G>T
|
rs1314323456
|
0.00001
|
NM_005373.3(MPL):c.981-1G>C
|
rs769297582
|
0.00001
|
NM_005591.4(MRE11):c.1771C>T (p.Gln591Ter)
|
rs1215450873
|
0.00001
|
NM_005591.4(MRE11):c.315-2A>G
|
rs876659145
|
0.00001
|
NM_005609.4(PYGM):c.1147G>A (p.Glu383Lys)
|
rs757681143
|
0.00001
|
NM_005609.4(PYGM):c.1963G>A (p.Glu655Lys)
|
rs119103253
|
0.00001
|
NM_005726.6(TSFM):c.908_909del (p.Gln303fs)
|
rs1491203033
|
0.00001
|
NM_005732.4(RAD50):c.1237C>T (p.Gln413Ter)
|
rs373428259
|
0.00001
|
NM_005732.4(RAD50):c.2934_2935del (p.Glu979fs)
|
rs768522804
|
0.00001
|
NM_005732.4(RAD50):c.552-1G>A
|
rs1236278956
|
0.00001
|
NM_005957.5(MTHFR):c.1970G>C (p.Ter657Ser)
|
rs749490263
|
0.00001
|
NM_005993.5(TBCD):c.1224-2A>G
|
rs1161413517
|
0.00001
|
NM_006005.3(WFS1):c.397G>A (p.Ala133Thr)
|
rs372249044
|
0.00001
|
NM_006363.6(SEC23B):c.1588C>T (p.Arg530Trp)
|
rs121918223
|
0.00001
|
NM_006397.3(RNASEH2A):c.69G>A (p.Val23=)
|
rs397515480
|
0.00001
|
NM_006493.4(CLN5):c.188G>A (p.Arg63His)
|
rs104894386
|
0.00001
|
NM_006765.4(TUSC3):c.220C>T (p.Arg74Ter)
|
rs1251881194
|
0.00001
|
NM_006767.4(LZTR1):c.2407-2A>G
|
rs1158550690
|
0.00001
|
NM_006767.4(LZTR1):c.848G>A (p.Arg283Gln)
|
rs1223430276
|
0.00001
|
NM_006859.4(LIAS):c.100A>T (p.Lys34Ter)
|
rs764858363
|
0.00001
|
NM_006892.4(DNMT3B):c.2476C>T (p.Arg826Cys)
|
rs201579632
|
0.00001
|
NM_006941.4(SOX10):c.482G>A (p.Arg161His)
|
rs750566714
|
0.00001
|
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg)
|
rs72552322
|
0.00001
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
NM_007254.4(PNKP):c.610C>T (p.Arg204Ter)
|
rs796052850
|
0.00001
|
NM_007294.4(BRCA1):c.5407-25T>A
|
rs758780152
|
0.00001
|
NM_007294.4(BRCA1):c.5467+2T>C
|
rs80358009
|
0.00001
|
NM_007347.5(AP4E1):c.2804G>A (p.Trp935Ter)
|
rs2064899680
|
0.00001
|
NM_012203.2(GRHPR):c.337G>A (p.Glu113Lys)
|
rs180177307
|
0.00001
|
NM_012434.5(SLC17A5):c.1259+1G>A
|
rs146095590
|
0.00001
|
NM_012434.5(SLC17A5):c.1355_1356insAA (p.Val453fs)
|
rs1234745577
|
0.00001
|
NM_014236.4(GNPAT):c.631C>T (p.Arg211Cys)
|
rs121434440
|
0.00001
|
NM_014239.4(EIF2B2):c.285-1G>A
|
rs373906805
|
0.00001
|
NM_014239.4(EIF2B2):c.910G>T (p.Glu304Ter)
|
rs113994018
|
0.00001
|
NM_014239.4(EIF2B2):c.947T>A (p.Val316Asp)
|
rs104894426
|
0.00001
|
NM_014254.3(RXYLT1):c.325+1G>T
|
rs1592838547
|
0.00001
|
NM_014297.5(ETHE1):c.187C>T (p.Gln63Ter)
|
rs368778231
|
0.00001
|
NM_014297.5(ETHE1):c.505+1G>A
|
rs935855792
|
0.00001
|
NM_014336.5(AIPL1):c.364G>C (p.Gly122Arg)
|
rs201883601
|
0.00001
|
NM_014363.6(SACS):c.1607C>T (p.Pro536Leu)
|
rs1440541889
|
0.00001
|
NM_014363.6(SACS):c.7273C>T (p.Arg2425Ter)
|
rs145766983
|
0.00001
|
NM_014625.4(NPHS2):c.535-1G>T
|
rs1291398331
|
0.00001
|
NM_014639.4(SKIC3):c.2018G>A (p.Gly673Asp)
|
rs769075304
|
0.00001
|
NM_014780.5(CUL7):c.4763T>C (p.Leu1588Pro)
|
rs759300846
|
0.00001
|
NM_014845.6(FIG4):c.290-2A>T
|
rs587777715
|
0.00001
|
NM_014875.3(KIF14):c.103C>T (p.Arg35Ter)
|
rs774318019
|
0.00001
|
NM_015166.4(MLC1):c.249G>T (p.Leu83Phe)
|
rs1289520784
|
0.00001
|
NM_015166.4(MLC1):c.251G>A (p.Arg84His)
|
rs1425784992
|
0.00001
|
NM_015272.5(RPGRIP1L):c.1804C>T (p.Arg602Ter)
|
rs745413543
|
0.00001
|
NM_015272.5(RPGRIP1L):c.196C>T (p.Gln66Ter)
|
rs751444506
|
0.00001
|
NM_015272.5(RPGRIP1L):c.751C>T (p.Arg251Ter)
|
rs993394322
|
0.00001
|
NM_015465.5(GEMIN5):c.2768A>C (p.His923Pro)
|
rs1763488906
|
0.00001
|
NM_015599.3(PGM3):c.1474C>T (p.Arg492Ter)
|
rs144104577
|
0.00001
|
NM_015665.6(AAAS):c.938T>C (p.Val313Ala)
|
rs773601814
|
0.00001
|
NM_015681.6(B9D1):c.341G>A (p.Arg114Gln)
|
rs778260923
|
0.00001
|
NM_015909.4(NBAS):c.1213C>T (p.Arg405Ter)
|
rs376113678
|
0.00001
|
NM_015909.4(NBAS):c.6909T>A (p.Cys2303Ter)
|
rs778338208
|
0.00001
|
NM_016042.4(EXOSC3):c.2T>C (p.Met1Thr)
|
rs1325914775
|
0.00001
|
NM_016277.5(RAB23):c.145C>T (p.Arg49Ter)
|
rs1049674573
|
0.00001
|
NM_017777.4(MKS1):c.515+1G>A
|
rs201933838
|
0.00001
|
NM_017890.5(VPS13B):c.4238T>A (p.Leu1413Ter)
|
rs765998879
|
0.00001
|
NM_018062.4(FANCL):c.2T>C (p.Met1Thr)
|
rs761291501
|
0.00001
|
NM_018127.7(ELAC2):c.1444G>T (p.Glu482Ter)
|
rs763770476
|
0.00001
|
NM_018129.4(PNPO):c.284G>A (p.Arg95His)
|
rs552833222
|
0.00001
|
NM_018255.4(ELP2):c.617A>G (p.His206Arg)
|
rs773432002
|
0.00001
|
NM_018367.7(ACER3):c.475C>T (p.Arg159Ter)
|
rs782329790
|
0.00001
|
NM_018418.5(SPATA7):c.1293dup (p.Asp432Ter)
|
rs2077134911
|
0.00001
|
NM_018941.4(CLN8):c.209G>A (p.Arg70His)
|
rs386834124
|
0.00001
|
NM_018972.4(GDAP1):c.355C>A (p.Pro119Thr)
|
rs936681187
|
0.00001
|
NM_019109.5(ALG1):c.598C>T (p.Arg200Ter)
|
rs1474783444
|
0.00001
|
NM_019109.5(ALG1):c.901+1G>A
|
rs1227251669
|
0.00001
|
NM_020297.4(ABCC9):c.1858C>T (p.Arg620Ter)
|
rs1024095026
|
0.00001
|
NM_020320.5(RARS2):c.1406G>A (p.Arg469His)
|
rs759331139
|
0.00001
|
NM_020451.3(SELENON):c.481C>T (p.Arg161Ter)
|
rs778603129
|
0.00001
|
NM_020451.3(SELENON):c.565C>T (p.Arg189Ter)
|
rs775713184
|
0.00001
|
NM_020458.4(TTC7A):c.2468T>C (p.Leu823Pro)
|
rs587776972
|
0.00001
|
NM_020533.3(MCOLN1):c.1406A>G (p.Asn469Ser)
|
rs797044818
|
0.00001
|
NM_020661.4(AICDA):c.374G>A (p.Gly125Glu)
|
rs193922704
|
0.00001
|
NM_020800.3(IFT80):c.401C>G (p.Ser134Ter)
|
rs1241223548
|
0.00001
|
NM_020944.3(GBA2):c.1582+2T>G
|
rs941656065
|
0.00001
|
NM_020964.3(EPG5):c.1A>G (p.Met1Val)
|
rs1135402732
|
0.00001
|
NM_021628.3(ALOXE3):c.2065C>T (p.Arg689Trp)
|
rs1311967606
|
0.00001
|
NM_021830.5(TWNK):c.1120C>T (p.Arg374Trp)
|
rs267606682
|
0.00001
|
NM_021870.3(FGG):c.677G>T (p.Gly226Val)
|
rs1310452604
|
0.00001
|
NM_022132.5(MCCC2):c.1300G>C (p.Val434Leu)
|
rs758506791
|
0.00001
|
NM_024120.5(NDUFAF5):c.604C>T (p.Gln202Ter)
|
rs368690277
|
0.00001
|
NM_024306.5(FA2H):c.806G>A (p.Arg269His)
|
rs1429546236
|
0.00001
|
NM_024570.4(RNASEH2B):c.698+1G>A
|
rs367915667
|
0.00001
|
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro)
|
rs121917778
|
0.00001
|
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn)
|
rs200688985
|
0.00001
|
NM_024675.4(PALB2):c.2012T>G (p.Leu671Ter)
|
rs755263466
|
0.00001
|
NM_024675.4(PALB2):c.3067C>T (p.Gln1023Ter)
|
rs1555459386
|
0.00001
|
NM_024675.4(PALB2):c.3350+5G>A
|
rs587782566
|
0.00001
|
NM_024675.4(PALB2):c.940C>T (p.Gln314Ter)
|
rs786203821
|
0.00001
|
NM_024685.4(BBS10):c.1184dup (p.His395fs)
|
rs786204573
|
0.00001
|
NM_024809.5(TCTN2):c.1751T>A (p.Ile584Lys)
|
rs201010803
|
0.00001
|
NM_024884.3(L2HGDH):c.256+1G>A
|
rs150299874
|
0.00001
|
NM_025114.4(CEP290):c.2414T>C (p.Leu805Pro)
|
rs762633090
|
0.00001
|
NM_025114.4(CEP290):c.5012+2T>C
|
rs1369768287
|
0.00001
|
NM_025137.4(SPG11):c.3039-5T>G
|
rs763224175
|
0.00001
|
NM_025265.4(TSEN2):c.1354C>T (p.Arg452Ter)
|
rs376815626
|
0.00001
|
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys)
|
rs113994149
|
0.00001
|
NM_030962.4(SBF2):c.3653-1G>A
|
rs145183196
|
0.00001
|
NM_031885.5(BBS2):c.2107C>T (p.Arg703Ter)
|
rs567573386
|
0.00001
|
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter)
|
rs368796923
|
0.00001
|
NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter)
|
rs575595017
|
0.00001
|
NM_032043.3(BRIP1):c.2765T>G (p.Leu922Ter)
|
rs587782410
|
0.00001
|
NM_032043.3(BRIP1):c.484C>T (p.Arg162Ter)
|
rs747604569
|
0.00001
|
NM_032119.4(ADGRV1):c.9749-2del
|
rs1751549898
|
0.00001
|
NM_032444.4(SLX4):c.1441C>T (p.Arg481Ter)
|
rs1265030199
|
0.00001
|
NM_033028.5(BBS4):c.1A>G (p.Met1Val)
|
rs773109542
|
0.00001
|
NM_033380.3(COL4A5):c.314G>C (p.Gly105Ala)
|
rs1569488381
|
0.00001
|
NM_052845.4(MMAB):c.584G>A (p.Arg195His)
|
rs756195708
|
0.00001
|
NM_054012.4(ASS1):c.689-2A>C
|
rs374586230
|
0.00001
|
NM_058216.3(RAD51C):c.905-2A>C
|
rs779582317
|
0.00001
|
NM_058216.3(RAD51C):c.966-1G>C
|
rs876658272
|
0.00001
|
NM_078470.6(COX15):c.305G>A (p.Trp102Ter)
|
rs778412019
|
0.00001
|
NM_138691.3(TMC1):c.797T>C (p.Ile266Thr)
|
rs747645756
|
0.00001
|
NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter)
|
rs786204749
|
0.00001
|
NM_138694.4(PKHD1):c.1964+1G>T
|
rs1385712943
|
0.00001
|
NM_138694.4(PKHD1):c.3747T>G (p.Cys1249Trp)
|
rs748540413
|
0.00001
|
NM_138694.4(PKHD1):c.53-1G>A
|
rs775511838
|
0.00001
|
NM_138694.4(PKHD1):c.8554+1G>A
|
rs1790925351
|
0.00001
|
NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter)
|
rs765020336
|
0.00001
|
NM_152384.3(BBS5):c.413G>A (p.Arg138His)
|
rs179363897
|
0.00001
|
NM_152419.3(HGSNAT):c.1445T>A (p.Met482Lys)
|
rs121908284
|
0.00001
|
NM_152419.3(HGSNAT):c.493+5G>A
|
rs781408761
|
0.00001
|
NM_152490.5(B3GALNT2):c.842-1G>A
|
rs764784497
|
0.00001
|
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs)
|
rs386834055
|
0.00001
|
NM_152564.5(VPS13B):c.4336C>T (p.Arg1446Ter)
|
rs386834086
|
0.00001
|
NM_152564.5(VPS13B):c.8044C>T (p.Arg2682Ter)
|
rs386834110
|
0.00001
|
NM_153240.5(NPHP3):c.3111C>G (p.Tyr1037Ter)
|
rs1007848349
|
0.00001
|
NM_153717.3(EVC):c.1777-1G>A
|
rs1262933856
|
0.00001
|
NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp)
|
rs386134243
|
0.00001
|
NM_170707.4(LMNA):c.1412G>A (p.Arg471His)
|
rs267607578
|
0.00001
|
NM_170707.4(LMNA):c.725C>T (p.Ala242Val)
|
rs397517906
|
0.00001
|
NM_173483.4(CYP4F22):c.1085G>A (p.Arg362Gln)
|
rs769229606
|
0.00001
|
NM_173483.4(CYP4F22):c.727C>T (p.Arg243Cys)
|
rs768098854
|
0.00001
|
NM_174878.3(CLRN1):c.190G>A (p.Gly64Arg)
|
rs1380661508
|
0.00001
|
NM_175914.5(HNF4A):c.925C>T (p.Arg309Cys)
|
rs193922479
|
0.00001
|
NM_181789.4(GLDN):c.82G>C (p.Ala28Pro)
|
rs1016861963
|
0.00001
|
NM_182760.4(SUMF1):c.653G>A (p.Cys218Tyr)
|
rs137852854
|
0.00001
|
NM_182894.3(VSX2):c.667G>A (p.Gly223Arg)
|
rs755799430
|
0.00001
|
NM_198129.4(LAMA3):c.5872G>T (p.Gly1958Ter)
|
rs2080986242
|
0.00001
|
NM_198129.4(LAMA3):c.8203C>T (p.Arg2735Ter)
|
rs774133746
|
0.00001
|
NM_199037.3(SCN1B):c.751G>A (p.Val251Ile)
|
rs193922728
|
0.00001
|
NM_199242.3(UNC13D):c.520C>T (p.Gln174Ter)
|
rs1157287613
|
0.00001
|
NM_201253.3(CRB1):c.4006-10A>G
|
rs766850702
|
0.00001
|
NM_201525.4(ADGRG1):c.768G>C (p.Glu256Asp)
|
rs532188689
|
0.00001
|
NM_201548.5(CERKL):c.526C>T (p.Gln176Ter)
|
rs988540767
|
0.00001
|
NM_201548.5(CERKL):c.677+547G>C
|
rs1044562973
|
0.00001
|
NM_203290.4(POLR1C):c.922+2T>C
|
rs778556895
|
0.00001
|
NM_203447.4(DOCK8):c.1174C>T (p.Gln392Ter)
|
rs372598000
|
0.00001
|
NM_206933.4(USH2A):c.11831C>A (p.Ala3944Asp)
|
rs1431048303
|
0.00001
|
NM_206933.4(USH2A):c.11954G>A (p.Trp3985Ter)
|
rs397517976
|
0.00001
|
NM_206933.4(USH2A):c.14911C>T (p.Arg4971Ter)
|
rs397517994
|
0.00001
|
NM_206933.4(USH2A):c.1550G>C (p.Arg517Thr)
|
rs1393503590
|
0.00001
|
NM_206933.4(USH2A):c.3368A>G (p.Tyr1123Cys)
|
rs775177930
|
0.00001
|
NM_206933.4(USH2A):c.4124C>T (p.Ser1375Leu)
|
rs751479180
|
0.00001
|
NM_206933.4(USH2A):c.4378G>A (p.Gly1460Arg)
|
rs139311927
|
0.00001
|
NM_206933.4(USH2A):c.4616C>T (p.Thr1539Ile)
|
rs758095361
|
0.00001
|
NM_206933.4(USH2A):c.7300+1G>C
|
rs1343780391
|
0.00001
|
NM_206933.4(USH2A):c.8681+1G>A
|
rs876657733
|
0.00001
|
NM_207361.6(FREM2):c.6727C>T (p.Arg2243Ter)
|
rs767978562
|
0.00001
|
NM_207361.6(FREM2):c.8176+2dup
|
rs779126010
|
0.00001
|
NR_003051.3(RMRP):n.-16_-4dup
|
rs1554651422
|
0.00001
|
NR_003051.3(RMRP):n.-21_-2dup
|
rs1554651403
|
0.00001
|
NR_003051.3(RMRP):n.-22_-14dup
|
rs1563908167
|
0.00001
|
NR_003051.3(RMRP):n.-22_-15dupTACTCTGT
|
rs1563908212
|
0.00001
|
NR_003051.3(RMRP):n.-22_-4dup
|
rs1554651427
|
0.00001
|
NR_003051.3(RMRP):n.-3_1dupCGTG
|
rs1554651381
|
0.00001
|
NR_003051.4(RMRP):n.42G>A
|
rs1156413585
|
0.00001
|
HNF4A deletion
|
|
|
NC_000001.10:g.(12049401_12052611)_(12057479_12058826)dup
|
|
|
NC_000001.10:g.(215963625_215972248)_(216074248_216107957)del
|
|
|
NC_000001.10:g.(216373464_216380614)_(216380774_216390728)del
|
|
|
NC_000001.10:g.(24144074_24146999)_(24147084_24151845)del
|
|
|
NC_000001.10:g.(243507634_243542022)_(243542166_243579003)del
|
|
|
NC_000001.10:g.(243542166_243579003)_(243579132_243581269)del
|
|
|
NC_000001.10:g.(65845208_65849875)_(65855311_65858113)dup
|
|
|
NC_000001.10:g.(68896860_68896964)_(68897269_68903869)del
|
|
|
NC_000001.10:g.(97658805_97700407)_(97700551_97770814)del
|
|
|
NC_000001.10:g.(?_120254418)_(120254784_120263792)del
|
|
|
NC_000001.10:g.(?_76190031)_(76229365_?)del
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NC_000002.11:g.(1418275_1426816)_(1520755_1544365)dup
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NC_000002.11:g.(152465191_152466322)_(152563512_152566169)del
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NC_000002.11:g.(15330528_15358896)_(15449372_15467873)del
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NC_000002.11:g.(15378811_15415607)_(15567919_15601324)del
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NC_000002.11:g.(15432891_15448339)_(15449372_15467873)del
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NC_000002.11:g.(15468437_15470721)_(15496541_15506703)dup
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NC_000002.11:g.(15470890_15492115)_(15493835_15496426)del
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NC_000002.11:g.(15567919_15601324)_(15618414_15629017)del
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NC_000002.11:g.(170034537_170037957)_(170072941_170076963)del
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NC_000002.11:g.(211507390_211512586)_211513223del
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NC_000002.11:g.(228560798_228563451)_228563704del
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NC_000002.11:g.(231037676_231042253)_(231042397_231042872)del
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NC_000002.11:g.(238247761_238249094)_(238257307_238258789)del
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NC_000002.11:g.(26467859_26477114)_(26477343_26486247)del
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NC_000002.11:g.(26726714_26739285)_(26741978_26750699)del
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NC_000002.11:g.(47639700_47641407)_(47657081_47672686)dup
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NC_000002.11:g.(71748035_71753349)_(71766370_71776479)dup
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NC_000002.11:g.(73786270_73799388)_(73800552_73826527)del
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NC_000002.11:g.(?_110880912)_(110886837_110889255)del
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NC_000002.11:g.(?_46844310)_(46844438_46845911)del
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NC_000002.11:g.(?_71680752)_(71681217_71708012)del
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NC_000002.11:g.211436160_211541748del105589
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NC_000003.11:g.(10132070_10133864)_(10136048_10136883)del
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NC_000003.11:g.(132438675_132440806)_132441126del
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NC_000003.11:g.(148847728_148857790)_(148890984_?)del
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NC_000003.11:g.(33175758_33183886)_(33189266_?)del
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NC_000003.11:g.(37067499_37070274)_(37070424_37081676)[3]
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|
NC_000003.11:g.(37067499_37070274)_(37070424_37081676)dup
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NC_000003.11:g.(41241162_41265511)_(41268844_41274831)del
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NC_000003.11:g.(43640159_43641875)_(43647356_43663400)del
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NC_000003.11:g.(97483822_97485475)_(97487075_97499002)del
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NC_000003.11:g.(97487075_97499002)_(97499065_97499458)dup
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NC_000003.11:g.(?_10068070)_(10070406_10074515)del
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NC_000003.11:g.(?_10068070)_(10094182_10101977)del
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NC_000003.11:g.(?_148890285)_(148939833_?)del
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NC_000003.11:g.(?_33155449)_(33166072_33171430)del
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NC_000003.11:g.(?_81538849)_(81539615_81548260)del
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NC_000003.11:g.14187530_(14190449_14193834)del
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NC_000003.11:g.93714775_(93722753_93754174)del
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NC_000004.11:g.(100521891_100522763)_(100534298_100540130)del
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NC_000004.11:g.(103635719_103644027)_(103645125_103647745)del
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NC_000004.11:g.(123949551_123977541)_(123978444_124011733)del
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NC_000004.11:g.(128859994_128861007)_(128865148_128870958)del
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NC_000004.11:g.(128878748_128886226)_(128887140_?)del
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NC_000004.11:g.(17506099_17510893)_(17513858_?)del
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NC_000004.11:g.(3478270_3487265)_(3487386_3491403)del
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NC_000004.11:g.(79362452_79366675)_(79366867_79367880)del
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NC_000004.11:g.(88940724_88957371)_(88957506_88959402)del
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NC_000004.11:g.(93511438_94006145)_(94006431_94031898)del
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NC_000005.9:g.(112103088_112111325)_(112116601_112128142)del
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NC_000005.9:g.(127648488_127653840)_(127654694_127664387)del
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NC_000005.9:g.(37108574_37115061)_(37196099_37198803)dup
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NC_000005.9:g.(60200701_60214091)_(60240906_?)del
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NC_000005.9:g.(78135250_78181406)_(78181651_78251117)dup
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NC_000005.9:g.(89914999_89918413)_(89954096_89968362)del
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NC_000005.9:g.(89988604_89989706)_(90074915_90077246)del
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NC_000005.9:g.(90136803_90144453)_(90159675_90261231)dup
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NC_000005.9:g.(90150019_90151557)_(90151719_90159573)del
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NC_000005.9:g.(94830722_94833119)_(94834296_94838583)del
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NC_000005.9:g.(94877085_94877518)_(94886355_94890639)del
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NC_000005.9:g.(?_131892615)_(131980314_?)del
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NC_000005.9:g.(?_218337)_(235455_236542)del
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NC_000005.9:g.(?_60169658)_(60183348_60186715)del
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NC_000005.9:g.(?_60240955)_(60241210_60368951)del
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NC_000006.11:g.(10804125_10809042)_(10809176_10813876)del
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NC_000006.11:g.(135754395_135759512)_(135759637_135763719)del
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NC_000006.11:g.(152861157_152949399)_(152949690_152957772)del
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NC_000006.11:g.(32007026_32007132)_(32007983_32008182)del
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NC_000006.11:g.(43550879_43555008)_(43565603_43568724)del
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NC_000006.11:g.(51514019_51523749)_(51524768_51609182)del
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NC_000006.11:g.(51712769_51720690)_(51777375_51798907)dup
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NC_000006.11:g.(51752044_51768394)_(51774273_51776596)del
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NC_000006.11:g.(51924841_51927316)_(51927459_51929752)del
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NC_000006.11:g.(64574252_64694275)_(64791896_64940484)dup
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NC_000006.11:g.(65612394_65622376)_(65767621_66005755)del
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NC_000006.11:g.(65707597_65767506)_(65767621_66005755)del
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NC_000006.11:g.(66094394_66112370)_(66115261_66200486)del
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NC_000006.11:g.(66115261_66200486)_(66205887_66349670)del
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NC_000006.11:g.(80881108_80910650)_(80982939_81053380)dup
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NC_000006.11:g.(86251762_86252899)_(86259598_86267693)dup
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NC_000006.11:g.(99328501_99347143)_(99375699_99395681)del
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NC_000006.11:g.(?_74303101)_(74310165_74320122)del
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NC_000006.11:g.129802434_(129802585_129807618)del
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NC_000007.13:g.(117120202_117144306)_(117144418_117149087)dup
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NC_000007.13:g.(117144418_117149087)_(117149197_117170952)dup
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NC_000007.13:g.(117149197_117170952)_(117243837_117246727)dup
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NC_000007.13:g.(117171169_117174329)_(117174420_117175301)del
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NC_000007.13:g.(117174420_117175301)_(117175466_117176601)dup
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NC_000007.13:g.(117176728_117180153)_(117180401_117182069)dup
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NC_000007.13:g.(117180401_117182069)_(117182163_117188694)del
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NC_000007.13:g.(117199710_117227792)_(117227888_117230406)dup
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NC_000007.13:g.(117230494_117231987)_(117232712_117234983)dup
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NC_000007.13:g.(117235113_117242879)_(117242918_117243585)dup
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NC_000007.13:g.(117242918_117243585)_(117243837_117246727)dup
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NC_000007.13:g.(117243837_117246727)_(117246808_117250572)dup
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NC_000007.13:g.(117246808_117250572)_(117250724_117251634)dup
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NC_000007.13:g.(117251863_117254666)_(117254768_117267575)dup
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NC_000007.13:g.(117254768_117267575)_(117267825_117282491)dup
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NC_000007.13:g.(117292986_117304741)_(117304915_117305512)dup
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NC_000007.13:g.(117304915_117305512)_(117305619_117306961)dup
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NC_000007.13:g.(121733213_121738503)_(121773796_121784214)del
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NC_000007.13:g.(146536997_146740998)_(146829602_146997232)del
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NC_000007.13:g.(147600814_147674953)_(147675082_147815209)del
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NC_000007.13:g.(151871328_151873275)_(151933019_151935791)del
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NC_000007.13:g.(33376235_33380508)_(33380586_33384192)del
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NC_000007.13:g.(33427757_33545074)_(33573789_33644476)del
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NC_000007.13:g.(6013174_6017218)_(6037055_6038738)del
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NC_000007.13:g.(6018328_6022454)_(6027252_6029430)dup
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NC_000007.13:g.(6031689_6035164)_(6037055_6038738)del
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NC_000007.13:g.(74188451_74191612)_(74193769_74195125)dup
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NC_000007.13:g.(?_117120016)_(117120202_117144306)del
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NC_000007.13:g.(?_6010555)_(6037055_6038738)del
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NC_000008.10:g.(100155394_100160068)_(100168972_100182266)del
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NC_000008.10:g.(100155394_100160068)_(100396546_100403784)del
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NC_000008.10:g.(31007972_31012139)_(31031278_?)del
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NC_000008.10:g.(43024386_43025727)_(43027530_43028855)del
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NC_000008.10:g.(61769448_61773462)_(61773685_61774754)del
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NC_000008.10:g.(94807736_94808128)_(94809699_94811845)del
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NC_000008.10:g.(?_64081111)_(64125347_?)del
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NC_000009.11:g.(108484903_108510353)_(108538893_?)del
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NC_000009.11:g.(126129637_126129851)_(126136200_126136857)del
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NC_000009.11:g.(131105573_131107433)_(131112855_131114916)del
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NC_000009.11:g.(134388719_134390812)_(134399194_?)del
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NC_000009.11:g.(135164039_135171258)_(135176191_135187143)del
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NC_000009.11:g.(215030_271626)_(328172_332397)dup
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NC_000009.11:g.(215030_271626)_(336719_339005)dup
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|
NC_000009.11:g.(215030_271626)_(399260_404917)dup
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NC_000009.11:g.(36246480_36249188)_(36249395_36276890)del
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NC_000009.11:g.(407070_414781)_(434976_439244)del
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NC_000009.11:g.(97864133_97869347)_(97869552_97873744)del
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NC_000009.11:g.(97873920_97876910)_(97879673_97887367)del
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|
NC_000009.11:g.(97873920_97876910)_(97934430_98002930)dup
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NC_000009.11:g.(?_214864)_(215030_271626)del
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NC_000009.12:g.35658022TCCTCAGCTTCACAGA[3]
|
rs1563907859
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|
NC_000009.12:g.35658022_35658032dup
|
rs1554651425
|
|
NC_000009.12:g.35658023CCTCAGCTTCACAGAGT[3]
|
rs727502778
|
|
NC_000009.12:g.35658023_35658038dup
|
rs1823637651
|
|
NC_000009.12:g.35658024_35658038dup
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NC_000009.12:g.35658024delinsTTCAGCTTCACAGAGTAGTA
|
rs2131809783
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|
NC_000009.12:g.35658025_35658039dup
|
rs1823639713
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NC_000009.12:g.35658026_35658032dup
|
rs2131809964
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NC_000009.12:g.35658026_35658037dup
|
rs2131809978
|
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NC_000009.12:g.35658039_35658040insTTCTCAGCTTCACAGAGT
|
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NC_000010.10:g.(50669603_50678227)_(50684357_50686399)dup
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NC_000010.10:g.(55663131_55698574)_(55945029_55955442)dup
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NC_000010.10:g.(55849824_55892634)_(55943354_55944893)del
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NC_000010.10:g.(55913054_55943203)_(55996692_56077030)del
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NC_000010.10:g.(73454017_73455174)_73468962del
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NC_000010.10:g.(88659884_88671996)_(88679227_88681276)del
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NC_000010.10:g.(?_102505467)_(102510649_102539254)del
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NC_000010.10:g.(?_55580859)_(55591294_55600079)del
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NC_000011.9:g.(108119830_108121427)_(108124767_108126941)del
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NC_000011.9:g.(108129803_108137897)_(108239827_?)del
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NC_000011.9:g.(118215194_118219741)_(118224498_?)del
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NC_000011.9:g.(118971849_118972204)_(118972786_?)del
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NC_000011.9:g.(1467138_1471005)_(1477918_1480421)del
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NC_000011.9:g.(22272558_22276916)_(22284590_22291857)del
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NC_000011.9:g.(34953032_34969052)_(34999730_35006116)del
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NC_000011.9:g.(34988362_34991685)_(34991834_34999670)del
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NC_000011.9:g.(5248030_5248159)_(5254322_5255220)del
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NC_000011.9:g.(61131991_61133516)_(61133689_61135394)del
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NC_000011.9:g.(67377107_67377851)_(67380013_?)del
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NC_000011.9:g.(67378042_67378465)_(67380013_?)del
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NC_000011.9:g.(93754705_93778838)_(93779084_93796673)del
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NC_000011.9:g.(?_64513860)_(64514831_64517847)del
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NC_000012.11:g.(111052208_111057640)_(111057762_111064166)del
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NC_000012.11:g.(122295339_122295710)_(122295726_122296592)del
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NC_000012.11:g.(124163837_124171382)_(124181746_124184250)del
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NC_000012.11:g.(124189236_124191272)_(124192951_?)del
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NC_000012.11:g.(6105389_6120782)_(6233842_?)del
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NC_000012.11:g.(88500876_88502842)_(88505636_88508196)del
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NC_000012.11:g.(?_124155659)_(124184358_124189078)del
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NC_000013.10:g.(100764316_100807232)_(100861718_100888095)del
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NC_000013.10:g.(100982926_100992410)_(100992514_101020725)del
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NC_000013.10:g.(32921034_32928997)_(32945238_32950806)dup
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NC_000013.10:g.(32921034_32928997)_(32954283_32968825)dup
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NC_000013.10:g.(32937671_32944538)_(32944695_32945092)del
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NC_000013.10:g.(32937671_32944538)_(32945238_32950806)dup
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NC_000013.10:g.(52549305_52585422)_(52585631_?)del
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NC_000013.11:g.(32357930_32362522)_(32376792_32379316)del
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NC_000014.8:g.(102931627_102963315)_(102968819_?)del
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NC_000014.8:g.(23249261_23282108)_(23289021_?)del
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NC_000014.8:g.(74764773_74766250)_(74769768_?)del
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NC_000014.8:g.(97313682_97319167)_(97322924_97326893)del
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NC_000015.9:g.(28414802_28419540)_(28419767_28420657)dup
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NC_000015.9:g.(28538169_28544547)_(28544663_28566507)dup
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NC_000015.9:g.(43893213_43893593)_(43897598_43900060)del
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NC_000015.9:g.(44876757_44877833)_(44881613_44884528)dup
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NC_000015.9:g.(72636482_72637786)_(72639052_72640026)del
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NC_000015.9:g.(90193173_90195833)_(90198683_?)del
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NC_000015.9:g.(91312817_91326051)_(91334075_91337396)dup
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NC_000015.9:g.(?_43891760)_(43897598_43900060)del
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NC_000015.9:g.(?_64680002)_(64680164_64686144)del
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NC_000016.9:g.(14031716_14038579)_(14038693_14041470)del
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NC_000016.9:g.(180591_188148)_(188672_?)del
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NC_000016.9:g.(23614991_23619184)_(23619334_23625324)dup
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NC_000016.9:g.(23614991_23619184)_(23625413_23632682)del
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NC_000016.9:g.(23634452_23635392)_(23635416_23637556)del
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NC_000016.9:g.(23635363_23635382)_(23635416_23637556)del
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NC_000016.9:g.(47495338_47531309)_(47545684_47549431)del
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NC_000016.9:g.(47495338_47531309)_(47581460_47614205)del
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NC_000016.9:g.(47623014_47627410)_(47630443_47644736)del
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NC_000016.9:g.(53636101_53639392)_(53698922_53705421)del
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NC_000016.9:g.(68857530_68862076)_(68863701_68867192)dup
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NC_000016.9:g.(87925561_87935517)_(87970113_?)del
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NC_000016.9:g.(8900265_8904935)_(8943195_?)del
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NC_000016.9:g.(8906964_8941580)_(8943195_?)del
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NC_000016.9:g.(89831475_89833548)_(89883066_?)del
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NC_000016.9:g.(89862427_89865573)_(89866047_89869666)del
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NC_000016.9:g.(89866047_89869666)_(89877480_89880927)del
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|
|
NC_000016.9:g.(?_23614482)_(23614991_23619184)del
|
|
|
NC_000016.9:g.(?_28488599)_(28495440_28497667)del
|
|
|
NC_000016.9:g.(?_56899118)_56906295del
|
|
|
NC_000017.10:g.(1665408_1670196)_(1675370_1678351)del
|
|
|
NC_000017.10:g.(18210281_18211664)_(18212256_18217912)dup
|
|
|
NC_000017.10:g.(41199721_41201137)_(41203135_41209068)dup
|
|
|
NC_000017.10:g.(41209153_41215349)_(41228632_41234420)dup
|
|
|
NC_000017.10:g.(41223256_41226347)_(41258551_41267742)del
|
|
|
NC_000017.10:g.(41247940_41249260)_(41256279_41256884)del
|
|
|
NC_000017.10:g.(41247940_41249260)_41251831del
|
|
|
NC_000017.10:g.(56780691_56787219)_(56801462_56809844)dup
|
|
|
NC_000017.10:g.(59934593_59937230)_(59938931_59940644)del
|
|
|
NC_000017.10:g.(73754681_73758784)_(73761281_?)del
|
|
|
NC_000017.10:g.(8007534_8011785)_(8014850_8015410)del
|
|
|
NC_000017.10:g.(8015515_8017801)_(8020299_8021161)del
|
|
|
NC_000017.10:g.(?_3539761)_(3566398_?)del
|
|
|
NC_000017.10:g.(?_411907)_(618097_?)del
|
|
|
NC_000018.9:g.(21131692_21134721)_(21141492_21148786)dup
|
|
|
NC_000018.9:g.(44098220_44102063)_(44102273_44104428)del
|
|
|
NC_000018.9:g.(48556994_48573289)_48573471dup
|
|
|
NC_000018.9:g.(55373820_55398858)_(55399062_55470229)del
|
|
|
NC_000018.9:g.(9124982_9126828)_(9126906_9134183)del
|
|
|
NC_000018.9:g.(?_55313657)_(55321308_55322425)del
|
|
|
NC_000019.9:g.(11315008_11319361)_(11326604_11327589)del
|
|
|
NC_000019.9:g.(1222006_1223105)_(1226494_1227591)del
|
|
|
NC_000019.9:g.(36322665_36326606)_(36326664_36330138)del
|
|
|
NC_000019.9:g.(36337097_36338942)_(36340266_36340451)del
|
|
|
NC_000019.9:g.(36337097_36338942)_(36340556_36341265)del
|
|
|
NC_000019.9:g.(42830583_42837756)_(42838366_42839186)del
|
|
|
NC_000019.9:g.(45858987_45860527)_(45868417_45871887)del
|
|
|
NC_000019.9:g.(46057170_46087880)_(46088123_?)del
|
|
|
NC_000019.9:g.(7591813_7592405)_(7592847_7593043)del
|
|
|
NC_000019.9:g.(?_1205797)_(1223172_1226452)del
|
|
|
NC_000019.9:g.(?_44010870)_(44013017_44015588)del
|
|
|
NC_000020.10:g.(35533907_35539620)_(35547923_35555584)dup
|
|
|
NC_000020.10:g.(?_5279863)_(5283383_5294557)del
|
|
|
NC_000022.10:g.32217598_(32218777_32229900)del
|
|
|
NC_000023.10:g.(107683437_107782975)_(107834875_107838738)del
|
|
|
NC_000023.10:g.(22151742_22186428)_(22208620_22231020)dup
|
|
|
NC_000023.10:g.(22237221_22239729)_(22245729_22263449)dup
|
|
|
NC_000023.10:g.(31144791_31152218)_(31165636_31187559)dup
|
|
|
NC_000023.10:g.(31196923_31198486)_(31198599_31200854)dup
|
|
|
NC_000023.10:g.(31241239_31279071)_(31462745_31496222)dup
|
|
|
NC_000023.10:g.(31366752_31462597)_(31497221_31514904)del
|
|
|
NC_000023.10:g.(31366752_31462597)_(31645980_31676106)dup
|
|
|
NC_000023.10:g.(31462745_31496222)_(31525571_31645789)dup
|
|
|
NC_000023.10:g.(31496492_31497099)_(31854937_31893304)del
|
|
|
NC_000023.10:g.(31525571_31645789)_(31645980_31676106)dup
|
|
|
NC_000023.10:g.(31525571_31645789)_(32383317_32398626)dup
|
|
|
NC_000023.10:g.(31525571_31645789)_(32867938_33038255)del
|
|
|
NC_000023.10:g.(31838201_31854834)_(31893491_31947712)dup
|
|
|
NC_000023.10:g.(31854937_31893304)_(32235181_32305645)dup
|
|
|
NC_000023.10:g.(31854937_31893304)_(32305819_32328198)del
|
|
|
NC_000023.10:g.(31947863_31950196)_(31950345_31986455)dup
|
|
|
NC_000023.10:g.(32235181_32305645)_(32305819_32328198)dup
|
|
|
NC_000023.10:g.(32235181_32305645)_(32563452_32583818)dup
|
|
|
NC_000023.10:g.(32305819_32328198)_(32364198_32366522)del
|
|
|
NC_000023.10:g.(32328394_32360216)_(32366646_32380904)del
|
|
|
NC_000023.10:g.(32328394_32360216)_(32398798_32404426)dup
|
|
|
NC_000023.10:g.(32328394_32360216)_(32408299_32429868)del
|
|
|
NC_000023.10:g.(32381076_32382698)_(32663270_32715986)del
|
|
|
NC_000023.10:g.(32408299_32429868)_(32827729_32834584)dup
|
|
|
NC_000023.10:g.(32430031_32456357)_(32519960_32536124)del
|
|
|
NC_000023.10:g.(32459432_32466572)_(32503217_32509393)del
|
|
|
NC_000023.10:g.(32663270_32715986)_(32716116_32717228)del
|
|
|
NC_000023.10:g.(32717411_32827609)_(33229674_?)dup
|
|
|
NC_000023.10:g.(32834758_32841411)_(33038318_33229398)del
|
|
|
NC_000023.10:g.(32867938_33038255)_(33038318_33229398)del
|
|
|
NC_000023.10:g.(67454431_67494579)_(67518939_67652708)del
|
|
|
NC_000023.10:g.(76940499_76944310)_(76954118_76972607)del
|
|
|
NC_000023.10:g.(77284942_77286897)_(77289271_77294333)del
|
|
|
NC_000023.10:g.71800926_(71804153_71812953)del
|
|
|
NM_000016.6(ACADM):c.1229T>C (p.Ile410Thr)
|
rs1361089796
|
|
NM_000016.6(ACADM):c.19C>T (p.Arg7Ter)
|
rs1455996178
|
|
NM_000016.6(ACADM):c.224del (p.Val75fs)
|
rs1057516480
|
|
NM_000016.6(ACADM):c.306_307insG (p.Phe103fs)
|
rs2100365750
|
|
NM_000016.6(ACADM):c.454G>T (p.Glu152Ter)
|
rs1557446524
|
|
NM_000016.6(ACADM):c.881G>C (p.Arg294Thr)
|
rs779759347
|
|
NM_000016.6(ACADM):c.913G>T (p.Glu305Ter)
|
rs1215335509
|
|
NM_000016.6(ACADM):c.91C>T (p.Arg31Cys)
|
|
|
NM_000017.4(ACADS):c.2T>C (p.Met1Thr)
|
|
|
NM_000017.4(ACADS):c.988_990delinsTGT (p.Arg330Cys)
|
rs796051906
|
|
NM_000018.4(ACADVL):c.1077_1077+1delinsCAC
|
rs1057516686
|
|
NM_000018.4(ACADVL):c.1113del (p.Ile373fs)
|
rs1057517416
|
|
NM_000018.4(ACADVL):c.1730_1733dup (p.Met578fs)
|
rs2071395559
|
|
NM_000018.4(ACADVL):c.1882del (p.Gln628fs)
|
rs1597541142
|
|
NM_000018.4(ACADVL):c.1908dup (p.Ile637fs)
|
rs1555529204
|
|
NM_000018.4(ACADVL):c.335del (p.Phe112fs)
|
rs764028320
|
|
NM_000018.4(ACADVL):c.605T>A (p.Leu202His)
|
rs398123090
|
|
NM_000018.4(ACADVL):c.62+1G>A
|
rs2071111529
|
|
NM_000018.4(ACADVL):c.708_709del (p.Cys237fs)
|
rs1555528304
|
|
NM_000018.4(ACADVL):c.932del (p.Phe311fs)
|
rs764488310
|
|
NM_000019.4(ACAT1):c.218A>C (p.Gln73Pro)
|
rs779758622
|
|
NM_000019.4(ACAT1):c.238+2T>C
|
|
|
NM_000019.4(ACAT1):c.730+2T>C
|
rs398123096
|
|
NM_000019.4(ACAT1):c.890C>T (p.Thr297Met)
|
rs886041122
|
|
NM_000021.4(PSEN1):c.1254G>C (p.Leu418Phe)
|
rs63751316
|
|
NM_000021.4(PSEN1):c.344A>G (p.Tyr115Cys)
|
rs63750450
|
|
NM_000021.4(PSEN1):c.800C>T (p.Pro267Leu)
|
rs63750779
|
|
NM_000022.4(ADA):c.366_367del (p.Asp123fs)
|
rs758073965
|
|
NM_000022.4(ADA):c.396dup (p.Val133fs)
|
rs1555844617
|
|
NM_000022.4(ADA):c.532del (p.Val177_Val178insTer)
|
rs886041796
|
|
NM_000022.4(ADA):c.872C>G (p.Ser291Trp)
|
rs121908721
|
|
NM_000023.4(SGCA):c.1A>G (p.Met1Val)
|
|
|
NM_000023.4(SGCA):c.269A>G (p.Tyr90Cys)
|
|
|
NM_000023.4(SGCA):c.409G>C (p.Glu137Gln)
|
rs372210292
|
|
NM_000023.4(SGCA):c.85dup (p.His29fs)
|
|
|
NM_000026.4(ADSL):c.482+1G>C
|
|
|
NM_000027.4(AGA):c.39del (p.Leu15fs)
|
|
|
NM_000027.4(AGA):c.3G>A (p.Met1Ile)
|
|
|
NM_000027.4(AGA):c.508-2A>C
|
|
|
NM_000030.3(AGXT):c.165+1G>T
|
|
|
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)
|
rs34116584
|
|
NM_000030.3(AGXT):c.662_664del (p.Ser221del)
|
rs796052071
|
|
NM_000033.4(ABCD1):c.1366dup (p.Arg456fs)
|
rs193922093
|
|
NM_000033.4(ABCD1):c.1367del (p.Arg456fs)
|
|
|
NM_000033.4(ABCD1):c.1592T>C (p.Leu531Pro)
|
rs193922094
|
|
NM_000033.4(ABCD1):c.1820_1823del (p.Gly607fs)
|
rs1557055253
|
|
NM_000033.4(ABCD1):c.1979G>A (p.Arg660Gln)
|
rs1557055340
|
|
NM_000033.4(ABCD1):c.220C>T (p.Arg74Trp)
|
|
|
NM_000033.4(ABCD1):c.829G>T (p.Gly277Trp)
|
rs1603232195
|
|
NM_000033.4(ABCD1):c.838C>T (p.Arg280Cys)
|
rs193922098
|
|
NM_000033.4(ABCD1):c.839G>A (p.Arg280His)
|
rs781904944
|
|
NM_000033.4(ABCD1):c.900+2T>C
|
rs2091712381
|
|
NM_000035.4(ALDOB):c.113-1_115del
|
rs786204598
|
|
NM_000035.4(ALDOB):c.250del (p.Leu84fs)
|
rs1831190354
|
|
NM_000035.4(ALDOB):c.324G>A (p.Lys108=)
|
rs750026492
|
|
NM_000035.4(ALDOB):c.379+1G>A
|
rs138121153
|
|
NM_000035.4(ALDOB):c.541-277_651del
|
|
|
NM_000035.4(ALDOB):c.625-2A>G
|
rs786204503
|
|
NM_000035.4(ALDOB):c.686T>C (p.Leu229Pro)
|
rs1554702433
|
|
NM_000038.6(APC):c.1206_1207del (p.Glu403fs)
|
rs1762855243
|
|
NM_000038.6(APC):c.1313-1G>T
|
rs2149791738
|
|
NM_000038.6(APC):c.1466_1467del (p.Thr489fs)
|
rs1763774140
|
|
NM_000038.6(APC):c.1477_1478dup (p.Ser494fs)
|
|
|
NM_000038.6(APC):c.1499_1500dup (p.Ala501fs)
|
|
|
NM_000038.6(APC):c.1514del (p.Ala504_Leu505insTer)
|
|
|
NM_000038.6(APC):c.1530del (p.Phe510fs)
|
|
|
NM_000038.6(APC):c.1892_1904delinsAAT (p.Ile631fs)
|
rs863225319
|
|
NM_000038.6(APC):c.1958+1_1958+2dup
|
rs1561569606
|
|
NM_000038.6(APC):c.1958+2T>G
|
rs2149844646
|
|
NM_000038.6(APC):c.2053_2054del (p.Trp685fs)
|
rs2149859523
|
|
NM_000038.6(APC):c.2943del (p.Ser982fs)
|
rs2149880739
|
|
NM_000038.6(APC):c.3035_3037delinsT (p.Asn1012fs)
|
rs1554084650
|
|
NM_000038.6(APC):c.3258_3259del (p.Leu1087fs)
|
|
|
NM_000038.6(APC):c.3443_3444insG (p.Ser1148_Glu1149insTer)
|
rs2149892043
|
|
NM_000038.6(APC):c.3854_3855dup (p.Glu1286fs)
|
rs1561588017
|
|
NM_000038.6(APC):c.3875_3882delinsAGATGAAATAGGATGTAAGCA (p.Thr1292_Gln1294delinsLysMetLysTer)
|
rs1765543308
|
|
NM_000038.6(APC):c.3901dup (p.Thr1301fs)
|
rs1554085382
|
|
NM_000038.6(APC):c.4054_4063del (p.Val1352fs)
|
rs1561589459
|
|
NM_000038.6(APC):c.4479_5268del (p.Glu1494fs)
|
rs2149915790
|
|
NM_000038.6(APC):c.4508del (p.Ser1503fs)
|
rs1580649018
|
|
NM_000038.6(APC):c.450_483del (p.Lys150fs)
|
|
|
NM_000038.6(APC):c.4647del (p.Glu1550fs)
|
rs879254283
|
|
NM_000038.6(APC):c.4831C>T (p.Gln1611Ter)
|
rs774847203
|
|
NM_000038.6(APC):c.4873del (p.Gln1625fs)
|
rs1554086262
|
|
NM_000038.6(APC):c.4875del (p.Gln1625fs)
|
rs587779794
|
|
NM_000038.6(APC):c.4970dup (p.Ser1658fs)
|
rs1554086340
|
|
NM_000038.6(APC):c.4987G>T (p.Glu1663Ter)
|
rs758987855
|
|
NM_000038.6(APC):c.5152_5153delinsA (p.Ala1718fs)
|
rs1561598017
|
|
NM_000038.6(APC):c.531+2T>A
|
rs863225365
|
|
NM_000038.6(APC):c.532-8G>A
|
rs1060503323
|
|
NM_000038.6(APC):c.646-2A>G
|
rs777848503
|
|
NM_000038.6(APC):c.677del (p.Lys226fs)
|
rs863225371
|
|
NM_000038.6(APC):c.7513C>T (p.Arg2505Ter)
|
rs79630786
|
|
NM_000038.6(APC):c.7701_7702del (p.Gly2568fs)
|
|
|
NM_000038.6(APC):c.778C>T (p.Gln260Ter)
|
|
|
NM_000045.4(ARG1):c.938del (p.Lys313fs)
|
rs1554251356
|
|
NM_000046.5(ARSB):c.1213+6T>C
|
rs1554074118
|
|
NM_000046.5(ARSB):c.1214-2A>G
|
rs1554069808
|
|
NM_000046.5(ARSB):c.1299dup (p.Arg434Ter)
|
rs1355071930
|
|
NM_000046.5(ARSB):c.1325C>T (p.Thr442Met)
|
rs1057520739
|
|
NM_000046.5(ARSB):c.1394C>G (p.Ser465Ter)
|
rs1209412483
|
|
NM_000046.5(ARSB):c.219_230delinsG (p.Asp73fs)
|
rs1561197425
|
|
NM_000046.5(ARSB):c.245T>C (p.Leu82Pro)
|
|
|
NM_000046.5(ARSB):c.253TAC[1] (p.Tyr86del)
|
rs969231209
|
|
NM_000046.5(ARSB):c.312+2T>G
|
|
|
NM_000048.4(ASL):c.1360C>T (p.Gln454Ter)
|
rs869312994
|
|
NM_000048.4(ASL):c.436C>G (p.Arg146Gly)
|
|
|
NM_000048.4(ASL):c.925G>A (p.Gly309Arg)
|
rs769506424
|
|
NM_000048.4(ASL):c.978+1G>A
|
|
|
NM_000049.4(ASPA):c.321_322del (p.Ser108fs)
|
rs1289890879
|
|
NM_000049.4(ASPA):c.385G>A (p.Glu129Lys)
|
rs773049803
|
|
NM_000049.4(ASPA):c.631G>T (p.Glu211Ter)
|
rs1555539903
|
|
NM_000049.4(ASPA):c.677T>C (p.Ile226Thr)
|
|
|
NM_000049.4(ASPA):c.731A>G (p.His244Arg)
|
rs1057516995
|
|
NM_000049.4(ASPA):c.89T>C (p.Leu30Pro)
|
rs1555538144
|
|
NM_000051.4(ATM):c.1003G>T (p.Gly335Ter)
|
rs1555068471
|
|
NM_000051.4(ATM):c.1065+1G>T
|
rs201089102
|
|
NM_000051.4(ATM):c.1528_1529insTAAG (p.Ala510fs)
|
rs2080115075
|
|
NM_000051.4(ATM):c.157A>T (p.Lys53Ter)
|
rs876659078
|
|
NM_000051.4(ATM):c.192del (p.Leu64fs)
|
rs878853490
|
|
NM_000051.4(ATM):c.1A>C (p.Met1Leu)
|
rs730881359
|
|
NM_000051.4(ATM):c.2091del (p.Leu697fs)
|
|
|
NM_000051.4(ATM):c.2140del (p.Thr714fs)
|
rs2080473458
|
|
NM_000051.4(ATM):c.2192dup (p.Tyr731Ter)
|
rs1478081526
|
|
NM_000051.4(ATM):c.2200_2204dup (p.Ile735delinsMetTer)
|
rs1555074976
|
|
NM_000051.4(ATM):c.2251-1G>A
|
rs876659710
|
|
NM_000051.4(ATM):c.237del (p.Lys79fs)
|
rs730881303
|
|
NM_000051.4(ATM):c.2406_2407insC (p.Phe803fs)
|
rs2135421164
|
|
NM_000051.4(ATM):c.2467-1G>A
|
rs1328985852
|
|
NM_000051.4(ATM):c.2639-19_2639-7del
|
rs1591593439
|
|
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs)
|
rs757237504
|
|
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA
|
rs786202148
|
|
NM_000051.4(ATM):c.283C>T (p.Gln95Ter)
|
rs587781545
|
|
NM_000051.4(ATM):c.2910_2921+10del
|
|
|
NM_000051.4(ATM):c.2921+1G>T
|
rs587781558
|
|
NM_000051.4(ATM):c.2921+2dup
|
rs1565424654
|
|
NM_000051.4(ATM):c.2930_2931del (p.Cys977fs)
|
rs1555084947
|
|
NM_000051.4(ATM):c.3284+1G>A
|
rs864622129
|
|
NM_000051.4(ATM):c.331+2T>C
|
rs1555055358
|
|
NM_000051.4(ATM):c.3542_3543del (p.Lys1181fs)
|
rs746598992
|
|
NM_000051.4(ATM):c.3577-2A>G
|
rs887358871
|
|
NM_000051.4(ATM):c.3631del (p.Ala1211fs)
|
rs1064795885
|
|
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs)
|
rs1555093684
|
|
NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs)
|
rs879254189
|
|
NM_000051.4(ATM):c.4236+1G>T
|
rs876660674
|
|
NM_000051.4(ATM):c.4289_4292del (p.Asn1430fs)
|
rs2135760623
|
|
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs)
|
rs1555097650
|
|
NM_000051.4(ATM):c.4358del (p.Ile1453fs)
|
rs2082679287
|
|
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro)
|
rs730881391
|
|
NM_000051.4(ATM):c.4410T>A (p.Tyr1470Ter)
|
|
|
NM_000051.4(ATM):c.496+5G>A
|
rs796051858
|
|
NM_000051.4(ATM):c.4990G>T (p.Glu1664Ter)
|
rs1555103301
|
|
NM_000051.4(ATM):c.5319+2T>C
|
rs1555105842
|
|
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter)
|
rs1555106321
|
|
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs)
|
rs1555107263
|
|
NM_000051.4(ATM):c.5977dup (p.Ser1993fs)
|
rs1591758642
|
|
NM_000051.4(ATM):c.6095+2T>C
|
rs1057516525
|
|
NM_000051.4(ATM):c.6203T>C (p.Leu2068Ser)
|
rs1555114558
|
|
NM_000051.4(ATM):c.6273del (p.Trp2091fs)
|
rs1565503137
|
|
NM_000051.4(ATM):c.6280G>T (p.Glu2094Ter)
|
rs1565503182
|
|
NM_000051.4(ATM):c.6325dup (p.Trp2109fs)
|
rs1555114812
|
|
NM_000051.4(ATM):c.6452+2T>C
|
rs1064795006
|
|
NM_000051.4(ATM):c.6527_6530dup (p.Gln2177fs)
|
rs2085200653
|
|
NM_000051.4(ATM):c.6573-1G>C
|
rs1591128291
|
|
NM_000051.4(ATM):c.6710_6711del (p.Lys2237fs)
|
rs1591129337
|
|
NM_000051.4(ATM):c.6838_6839dup (p.Gln2280fs)
|
rs2136332542
|
|
NM_000051.4(ATM):c.6872G>A (p.Trp2291Ter)
|
rs2136334561
|
|
NM_000051.4(ATM):c.7311C>A (p.Tyr2437Ter)
|
rs763470424
|
|
NM_000051.4(ATM):c.7630-2A>G
|
rs587779866
|
|
NM_000051.4(ATM):c.7858del (p.Val2620fs)
|
rs1555125349
|
|
NM_000051.4(ATM):c.8103_8104del (p.Ile2702fs)
|
rs1064793406
|
|
NM_000051.4(ATM):c.8268+1G>T
|
rs876658957
|
|
NM_000051.4(ATM):c.829del (p.Glu277fs)
|
|
|
NM_000051.4(ATM):c.845T>G (p.Leu282Ter)
|
rs2135242595
|
|
NM_000051.4(ATM):c.8671+1G>T
|
rs1555139694
|
|
NM_000051.4(ATM):c.9091C>T (p.Gln3031Ter)
|
rs2091249987
|
|
NM_000052.7(ATP7A):c.1329del (p.Leu444fs)
|
rs2149083474
|
|
NM_000052.7(ATP7A):c.3137C>T (p.Thr1046Ile)
|
rs1064796648
|
|
NM_000052.7(ATP7A):c.611-1G>C
|
|
|
NM_000053.4(ATP7B):c.1820dup (p.Phe608fs)
|
rs1057516940
|
|
NM_000053.4(ATP7B):c.2121+3A>G
|
rs1248002612
|
|
NM_000053.4(ATP7B):c.2356-2A>T
|
|
|
NM_000053.4(ATP7B):c.2388_2389del (p.Met796fs)
|
rs2139503242
|
|
NM_000053.4(ATP7B):c.2428G>T (p.Glu810Ter)
|
rs770020484
|
|
NM_000053.4(ATP7B):c.2614_2615del (p.Val872fs)
|
rs2139209584
|
|
NM_000053.4(ATP7B):c.2962G>C (p.Gly988Arg)
|
rs199623434
|
|
NM_000053.4(ATP7B):c.3036dup (p.Lys1013fs)
|
rs1555287300
|
|
NM_000053.4(ATP7B):c.3104G>T (p.Gly1035Val)
|
rs753594031
|
|
NM_000053.4(ATP7B):c.3298_3300delinsAGTGCCAGGCAGTGCCA (p.Cys1100fs)
|
rs1566468816
|
|
NM_000053.4(ATP7B):c.3301_3302insCCAGGCAGTGCCAG (p.Gly1101fs)
|
rs1566468784
|
|
NM_000053.4(ATP7B):c.3311G>T (p.Cys1104Phe)
|
|
|
NM_000053.4(ATP7B):c.3412+1G>A
|
rs1957388064
|
|
NM_000053.4(ATP7B):c.3446G>C (p.Gly1149Ala)
|
rs1566462533
|
|
NM_000053.4(ATP7B):c.3598C>T (p.Gln1200Ter)
|
rs786204658
|
|
NM_000053.4(ATP7B):c.3693_3697delinsTCTGGTACATTAACATTAA (p.Thr1232_Gln1233delinsLeuValHisTer)
|
rs1957151127
|
|
NM_000053.4(ATP7B):c.3693delinsTCTGGTACATTAACATTA (p.Ala1231_Thr1232insLeuValHisTer)
|
rs1957151787
|
|
NM_000053.4(ATP7B):c.3833C>T (p.Ala1278Val)
|
rs1375884723
|
|
NM_000053.4(ATP7B):c.3836dup (p.Asp1279fs)
|
|
|
NM_000053.4(ATP7B):c.3942_3943del (p.Lys1315fs)
|
rs1057516227
|
|
NM_000053.4(ATP7B):c.3963_3964dup (p.Arg1322fs)
|
rs2138560807
|
|
NM_000053.4(ATP7B):c.3990_3993del (p.Tyr1331fs)
|
rs1566441447
|
|
NM_000053.4(ATP7B):c.4125-1G>C
|
rs1293549383
|
|
NM_000053.4(ATP7B):c.525del (p.Val176fs)
|
rs558037268
|
|
NM_000053.4(ATP7B):c.970A>T (p.Lys324Ter)
|
rs911589273
|
|
NM_000054.7(AVPR2):c.176T>C (p.Leu59Pro)
|
rs193922112
|
|
NM_000054.7(AVPR2):c.290T>C (p.Leu97Pro)
|
rs193922113
|
|
NM_000054.7(AVPR2):c.409C>G (p.Arg137Gly)
|
rs104894761
|
|
NM_000054.7(AVPR2):c.424del (p.Cys142fs)
|
rs193922114
|
|
NM_000054.7(AVPR2):c.472del (p.Arg158fs)
|
rs193922115
|
|
NM_000054.7(AVPR2):c.554del (p.Gly185fs)
|
rs193922116
|
|
NM_000054.7(AVPR2):c.673C>T (p.Gln225Ter)
|
rs193922117
|
|
NM_000054.7(AVPR2):c.752_758del (p.Arg251fs)
|
rs193922118
|
|
NM_000054.7(AVPR2):c.770del (p.Gly257fs)
|
rs193922119
|
|
NM_000054.7(AVPR2):c.819_821del (p.Leu274del)
|
rs193922120
|
|
NM_000054.7(AVPR2):c.853G>C (p.Ala285Pro)
|
rs193922122
|
|
NM_000055.4(BCHE):c.1158del (p.Pro387fs)
|
rs767469658
|
|
NM_000055.4(BCHE):c.1171_1174dup (p.Phe392Ter)
|
|
|
NM_000055.4(BCHE):c.495_498del (p.Arg166fs)
|
rs772259613
|
|
NM_000057.4(BLM):c.1090A>T (p.Arg364Ter)
|
rs1567040469
|
|
NM_000057.4(BLM):c.1701G>A (p.Trp567Ter)
|
rs1356090839
|
|
NM_000057.4(BLM):c.2074+1G>T
|
rs367543036
|
|
NM_000057.4(BLM):c.2187del (p.Leu730fs)
|
|
|
NM_000057.4(BLM):c.2193+1_2193+9del
|
rs1060500652
|
|
NM_000057.4(BLM):c.2208_2212delinsGATTC (p.Tyr736_Thr738delinsTer)
|
|
|
NM_000057.4(BLM):c.2406+2T>G
|
rs367543016
|
|
NM_000057.4(BLM):c.2580_2581del (p.His860fs)
|
rs864622347
|
|
NM_000057.4(BLM):c.2662+2T>C
|
rs1567052324
|
|
NM_000057.4(BLM):c.2702G>A (p.Cys901Tyr)
|
rs758311406
|
|
NM_000059.3(BRCA2):c.5362_5363delinsA (p.Ser1788fs)
|
rs1566232310
|
|
NM_000059.4(BRCA2):c.1179T>A (p.Cys393Ter)
|
rs786201237
|
|
NM_000059.4(BRCA2):c.1202C>A (p.Ser401Ter)
|
rs80358413
|
|
NM_000059.4(BRCA2):c.1219C>T (p.Gln407Ter)
|
rs781079248
|
|
NM_000059.4(BRCA2):c.1233del (p.Leu413fs)
|
rs2072407210
|
|
NM_000059.4(BRCA2):c.125_132dup (p.Glu45fs)
|
rs483353112
|
|
NM_000059.4(BRCA2):c.1379del (p.Asn460fs)
|
rs1064793945
|
|
NM_000059.4(BRCA2):c.1440C>A (p.Cys480Ter)
|
rs1555281911
|
|
NM_000059.4(BRCA2):c.1478del (p.Pro493fs)
|
rs2072414250
|
|
NM_000059.4(BRCA2):c.1481del (p.Val494fs)
|
|
|
NM_000059.4(BRCA2):c.1593del (p.Glu532fs)
|
rs397507272
|
|
NM_000059.4(BRCA2):c.1648G>T (p.Glu550Ter)
|
rs1555281999
|
|
NM_000059.4(BRCA2):c.1712del (p.Ser571fs)
|
rs2137474153
|
|
NM_000059.4(BRCA2):c.1733del (p.Gly578fs)
|
rs879255326
|
|
NM_000059.4(BRCA2):c.1792dup (p.Thr598fs)
|
rs886040389
|
|
NM_000059.4(BRCA2):c.1817_1819delinsTTT (p.Pro606_Lys607delinsLeuTer)
|
rs587779358
|
|
NM_000059.4(BRCA2):c.1841_1842dup (p.Asn615fs)
|
rs80359312
|
|
NM_000059.4(BRCA2):c.1846del (p.Cys616fs)
|
rs1566224496
|
|
NM_000059.4(BRCA2):c.1850C>A (p.Ser617Ter)
|
rs397507278
|
|
NM_000059.4(BRCA2):c.1910-1G>T
|
rs1566225769
|
|
NM_000059.4(BRCA2):c.2106del (p.Thr703fs)
|
rs2072450488
|
|
NM_000059.4(BRCA2):c.2176del (p.Val726fs)
|
rs1555282499
|
|
NM_000059.4(BRCA2):c.2253_2254del (p.Asp752fs)
|
rs398122744
|
|
NM_000059.4(BRCA2):c.2581C>T (p.Gln861Ter)
|
rs773356478
|
|
NM_000059.4(BRCA2):c.2658_2659del (p.Asn886fs)
|
rs397507291
|
|
NM_000059.4(BRCA2):c.2687_2688insGA (p.Asn896fs)
|
rs1555282795
|
|
NM_000059.4(BRCA2):c.2731del (p.Glu911fs)
|
rs80359344
|
|
NM_000059.4(BRCA2):c.2886_3114del (p.Ile963fs)
|
rs2072467292
|
|
NM_000059.4(BRCA2):c.2886_3144del (p.His962fs)
|
rs2072467220
|
|
NM_000059.4(BRCA2):c.2989_2990del (p.Leu997fs)
|
rs1555282990
|
|
NM_000059.4(BRCA2):c.2T>C (p.Met1Thr)
|
rs80358547
|
|
NM_000059.4(BRCA2):c.3059_3060del (p.Leu1019_Ser1020insTer)
|
rs876661270
|
|
NM_000059.4(BRCA2):c.3061del (p.Glu1021fs)
|
rs2072471318
|
|
NM_000059.4(BRCA2):c.3069del (p.Asn1023fs)
|
rs876658555
|
|
NM_000059.4(BRCA2):c.3076_3077del (p.Lys1026fs)
|
rs1057517566
|
|
NM_000059.4(BRCA2):c.3086dup (p.Met1029fs)
|
rs2072472083
|
|
NM_000059.4(BRCA2):c.3100_3101del (p.Asp1033_Ile1034insTer)
|
rs1555283051
|
|
NM_000059.4(BRCA2):c.3189del (p.Gln1063fs)
|
|
|
NM_000059.4(BRCA2):c.3211_3212dup (p.Leu1072fs)
|
rs2137494347
|
|
NM_000059.4(BRCA2):c.3273_3276del (p.Leu1091fs)
|
rs80359382
|
|
NM_000059.4(BRCA2):c.3385C>T (p.Gln1129Ter)
|
rs1555283209
|
|
NM_000059.4(BRCA2):c.3436G>T (p.Glu1146Ter)
|
rs1237049560
|
|
NM_000059.4(BRCA2):c.3481_3482dup (p.Asp1161fs)
|
rs878853569
|
|
NM_000059.4(BRCA2):c.3649del (p.Arg1217fs)
|
rs864622134
|
|
NM_000059.4(BRCA2):c.3703C>T (p.Gln1235Ter)
|
rs1555283366
|
|
NM_000059.4(BRCA2):c.3719dup (p.Phe1241fs)
|
rs2137499319
|
|
NM_000059.4(BRCA2):c.3738_3741del (p.Asn1246fs)
|
rs1555283381
|
|
NM_000059.4(BRCA2):c.376C>T (p.Gln126Ter)
|
rs1555280859
|
|
NM_000059.4(BRCA2):c.3866_3868dup (p.Cys1290Ter)
|
rs1555283442
|
|
NM_000059.4(BRCA2):c.3914_3915del (p.Phe1305fs)
|
rs397507698
|
|
NM_000059.4(BRCA2):c.3935dup (p.Asn1312fs)
|
rs1566229411
|
|
NM_000059.4(BRCA2):c.3937del (p.Tyr1313fs)
|
rs1566229421
|
|
NM_000059.4(BRCA2):c.3968_3971del (p.Lys1323fs)
|
rs886040505
|
|
NM_000059.4(BRCA2):c.3972T>G (p.Tyr1324Ter)
|
rs1131692119
|
|
NM_000059.4(BRCA2):c.403_410dup (p.Ser137_Cys138insTer)
|
rs1566218217
|
|
NM_000059.4(BRCA2):c.4057del (p.Glu1353fs)
|
rs2072494571
|
|
NM_000059.4(BRCA2):c.4092_4093insAA (p.Cys1365fs)
|
rs876658329
|
|
NM_000059.4(BRCA2):c.4218_4221del (p.Lys1406fs)
|
rs80359435
|
|
NM_000059.4(BRCA2):c.4263dup (p.Glu1422Ter)
|
rs1555283664
|
|
NM_000059.4(BRCA2):c.4270dup (p.Ser1424fs)
|
rs1555283672
|
|
NM_000059.4(BRCA2):c.4305_4309del (p.Asn1435fs)
|
rs1566230041
|
|
NM_000059.4(BRCA2):c.4312_4313dup (p.Ala1439fs)
|
rs1064794168
|
|
NM_000059.4(BRCA2):c.4321G>T (p.Glu1441Ter)
|
rs876659758
|
|
NM_000059.4(BRCA2):c.452dup (p.Thr152fs)
|
rs2072343917
|
|
NM_000059.4(BRCA2):c.4570_4573del (p.Phe1524fs)
|
rs1057517565
|
|
NM_000059.4(BRCA2):c.4591A>T (p.Lys1531Ter)
|
rs1555283865
|
|
NM_000059.4(BRCA2):c.4632_4636del (p.Asn1544_Leu1545insTer)
|
rs2137508514
|
|
NM_000059.4(BRCA2):c.475+4del
|
rs276174848
|
|
NM_000059.4(BRCA2):c.476-4_476-1delinsT
|
rs587782880
|
|
NM_000059.4(BRCA2):c.4822G>T (p.Glu1608Ter)
|
rs1566231194
|
|
NM_000059.4(BRCA2):c.4894_4895del (p.Ser1632fs)
|
rs397507748
|
|
NM_000059.4(BRCA2):c.4921G>T (p.Glu1641Ter)
|
rs1566231364
|
|
NM_000059.4(BRCA2):c.517-2A>T
|
rs81002858
|
|
NM_000059.4(BRCA2):c.5200dup (p.Glu1734fs)
|
rs1555284103
|
|
NM_000059.4(BRCA2):c.5201_5205delinsGAAAAG (p.Glu1734fs)
|
rs483353082
|
|
NM_000059.4(BRCA2):c.534del (p.Lys178fs)
|
rs1191198388
|
|
NM_000059.4(BRCA2):c.5362dup (p.Ser1788fs)
|
rs587781849
|
|
NM_000059.4(BRCA2):c.5613del (p.Ser1871fs)
|
rs2072533506
|
|
NM_000059.4(BRCA2):c.5653del (p.Cys1885fs)
|
rs886040602
|
|
NM_000059.4(BRCA2):c.6045del (p.Leu2015fs)
|
rs2072544996
|
|
NM_000059.4(BRCA2):c.6116T>G (p.Leu2039Ter)
|
rs1555284559
|
|
NM_000059.4(BRCA2):c.6155dup (p.Ser2053fs)
|
rs1566234047
|
|
NM_000059.4(BRCA2):c.6226del (p.Val2076fs)
|
rs2072549559
|
|
NM_000059.4(BRCA2):c.631G>C (p.Val211Leu)
|
rs80358871
|
|
NM_000059.4(BRCA2):c.632-1dup
|
rs1566220586
|
|
NM_000059.4(BRCA2):c.6393del (p.Lys2131fs)
|
rs886038145
|
|
NM_000059.4(BRCA2):c.6415_6426delinsTGTTTAGTTAG (p.Glu2139fs)
|
rs2072554847
|
|
NM_000059.4(BRCA2):c.6437_6440dup (p.His2147fs)
|
rs397507855
|
|
NM_000059.4(BRCA2):c.6487C>T (p.Gln2163Ter)
|
rs398122559
|
|
NM_000059.4(BRCA2):c.6516del (p.Val2174fs)
|
rs2072558268
|
|
NM_000059.4(BRCA2):c.6547_6550del (p.Glu2183fs)
|
rs2072559281
|
|
NM_000059.4(BRCA2):c.6626_6627dup (p.Glu2210Ter)
|
rs80359610
|
|
NM_000059.4(BRCA2):c.6762del (p.Phe2254fs)
|
rs80359624
|
|
NM_000059.4(BRCA2):c.68-2A>G
|
rs769152395
|
|
NM_000059.4(BRCA2):c.681+2dup
|
rs587781486
|
|
NM_000059.4(BRCA2):c.6865_6866del (p.Leu2289fs)
|
rs2137536911
|
|
NM_000059.4(BRCA2):c.6866T>G (p.Leu2289Ter)
|
rs1555285146
|
|
NM_000059.4(BRCA2):c.6922A>T (p.Lys2308Ter)
|
|
|
NM_000059.4(BRCA2):c.6938-2A>G
|
rs81002863
|
|
NM_000059.4(BRCA2):c.6976del (p.Ser2326fs)
|
rs886040679
|
|
NM_000059.4(BRCA2):c.6986_6990del (p.Pro2329fs)
|
rs1064795172
|
|
NM_000059.4(BRCA2):c.6999dup (p.Pro2334fs)
|
rs1566237861
|
|
NM_000059.4(BRCA2):c.7007+1G>T
|
rs397507891
|
|
NM_000059.4(BRCA2):c.707del (p.His236fs)
|
rs2072385245
|
|
NM_000059.4(BRCA2):c.7097dup (p.Thr2367fs)
|
rs786202600
|
|
NM_000059.4(BRCA2):c.7110dup (p.Ser2371fs)
|
rs80359638
|
|
NM_000059.4(BRCA2):c.7147del (p.Tyr2383fs)
|
rs878853599
|
|
NM_000059.4(BRCA2):c.7147dup (p.Tyr2383fs)
|
rs878853599
|
|
NM_000059.4(BRCA2):c.7171G>T (p.Glu2391Ter)
|
|
|
NM_000059.4(BRCA2):c.7186_7187del (p.Leu2396fs)
|
rs1555286031
|
|
NM_000059.4(BRCA2):c.718_719del (p.Leu240fs)
|
rs1555281459
|
|
NM_000059.4(BRCA2):c.7270dup (p.Arg2424fs)
|
rs2072681595
|
|
NM_000059.4(BRCA2):c.7274del (p.Asn2425fs)
|
rs1566241084
|
|
NM_000059.4(BRCA2):c.7317del (p.His2440fs)
|
rs2072682479
|
|
NM_000059.4(BRCA2):c.7403dup (p.Thr2469fs)
|
rs1555286105
|
|
NM_000059.4(BRCA2):c.7414_7415del (p.Lys2472fs)
|
rs80359650
|
|
NM_000059.4(BRCA2):c.7419T>A (p.Cys2473Ter)
|
rs1555286120
|
|
NM_000059.4(BRCA2):c.7423G>T (p.Glu2475Ter)
|
rs1566241336
|
|
NM_000059.4(BRCA2):c.7436-1G>T
|
rs886040939
|
|
NM_000059.4(BRCA2):c.7525dup (p.Ser2509fs)
|
rs80359656
|
|
NM_000059.4(BRCA2):c.7568dup (p.Lys2524fs)
|
rs1566242125
|
|
NM_000059.4(BRCA2):c.7570A>T (p.Lys2524Ter)
|
rs1555286291
|
|
NM_000059.4(BRCA2):c.7622_7629dup (p.Gly2544fs)
|
rs2137566082
|
|
NM_000059.4(BRCA2):c.7717_7718del (p.Leu2573fs)
|
rs2137567005
|
|
NM_000059.4(BRCA2):c.7745_7751dup (p.Gly2584_Gly2585insTer)
|
rs1593920945
|
|
NM_000059.4(BRCA2):c.7786G>A (p.Gly2596Arg)
|
rs398122591
|
|
NM_000059.4(BRCA2):c.7868A>G (p.His2623Arg)
|
rs80359012
|
|
NM_000059.4(BRCA2):c.7872T>G (p.Tyr2624Ter)
|
rs863224468
|
|
NM_000059.4(BRCA2):c.7933_7943delinsCTATTAGCA (p.Arg2645fs)
|
rs2137577594
|
|
NM_000059.4(BRCA2):c.794-2A>G
|
rs1566222053
|
|
NM_000059.4(BRCA2):c.7976+5G>A
|
rs786201180
|
|
NM_000059.4(BRCA2):c.799G>T (p.Gly267Ter)
|
rs786202796
|
|
NM_000059.4(BRCA2):c.8057T>C (p.Leu2686Pro)
|
rs28897746
|
|
NM_000059.4(BRCA2):c.8099del (p.Ile2700fs)
|
rs2137580749
|
|
NM_000059.4(BRCA2):c.8167G>A (p.Asp2723Asn)
|
rs41293511
|
|
NM_000059.4(BRCA2):c.8242G>A (p.Gly2748Ser)
|
rs56371528
|
|
NM_000059.4(BRCA2):c.8331+2T>G
|
rs398122602
|
|
NM_000059.4(BRCA2):c.8332-1G>T
|
rs397507979
|
|
NM_000059.4(BRCA2):c.8378G>A (p.Gly2793Glu)
|
rs80359083
|
|
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg)
|
rs80359100
|
|
NM_000059.4(BRCA2):c.8501del (p.Thr2834fs)
|
rs80359712
|
|
NM_000059.4(BRCA2):c.8611G>T (p.Glu2871Ter)
|
rs587782860
|
|
NM_000059.4(BRCA2):c.8632+2T>G
|
rs397507998
|
|
NM_000059.4(BRCA2):c.866del (p.Asn289fs)
|
rs2072398949
|
|
NM_000059.4(BRCA2):c.8754+4A>T
|
rs81002893
|
|
NM_000059.4(BRCA2):c.8754G>A (p.Glu2918=)
|
rs80359803
|
|
NM_000059.4(BRCA2):c.8868dup (p.Gln2957fs)
|
rs1555288386
|
|
NM_000059.4(BRCA2):c.889G>T (p.Glu297Ter)
|
rs879255298
|
|
NM_000059.4(BRCA2):c.8900_8901del (p.Thr2967fs)
|
rs1593936840
|
|
NM_000059.4(BRCA2):c.8954-5A>G
|
rs886040949
|
|
NM_000059.4(BRCA2):c.9041C>G (p.Ser3014Ter)
|
rs80359156
|
|
NM_000059.4(BRCA2):c.9045del (p.Lys3015fs)
|
rs2137622994
|
|
NM_000059.4(BRCA2):c.9082G>C (p.Ala3028Pro)
|
rs80359161
|
|
NM_000059.4(BRCA2):c.9096_9097del (p.Lys3032fs)
|
rs397507419
|
|
NM_000059.4(BRCA2):c.9191del (p.Asp3064fs)
|
rs2137625213
|
|
NM_000059.4(BRCA2):c.91T>G (p.Trp31Gly)
|
rs80359182
|
|
NM_000059.4(BRCA2):c.9212dup (p.Val3072fs)
|
rs1555288557
|
|
NM_000059.4(BRCA2):c.9254del (p.Thr3085fs)
|
rs1555288587
|
|
NM_000059.4(BRCA2):c.9256_9256+1delinsTA
|
rs587781422
|
|
NM_000059.4(BRCA2):c.9286dup (p.Glu3096fs)
|
rs778782209
|
|
NM_000059.4(BRCA2):c.9465_9466insTGAT (p.Gln3156Ter)
|
rs1555289602
|
|
NM_000059.4(BRCA2):c.9501+1G>T
|
rs397508058
|
|
NM_000059.4(BRCA2):c.958del (p.Leu320fs)
|
|
|
NM_000059.4(BRCA2):c.9593_9594del (p.Cys3198fs)
|
rs1566260198
|
|
NM_000059.4(BRCA2):c.9766_9770del (p.Glu3256fs)
|
rs1555289953
|
|
NM_000059.4(BRCA2):c.9770_9771del (p.Lys3257fs)
|
rs1566260997
|
|
NM_000059.4(BRCA2):c.9925G>T (p.Glu3309Ter)
|
rs80359251
|
|
NM_000061.3(BTK):c.1511A>T (p.Asp504Val)
|
rs193922125
|
|
NM_000061.3(BTK):c.164C>A (p.Ser55Ter)
|
rs1555980796
|
|
NM_000061.3(BTK):c.1673_1680del (p.Lys558fs)
|
rs193922126
|
|
NM_000061.3(BTK):c.1713T>G (p.Tyr571Ter)
|
rs1926380106
|
|
NM_000061.3(BTK):c.1716dup (p.Lys573fs)
|
rs2147424879
|
|
NM_000061.3(BTK):c.1773C>A (p.Tyr591Ter)
|
rs128621207
|
|
NM_000061.3(BTK):c.1889T>C (p.Met630Thr)
|
rs128621210
|
|
NM_000061.3(BTK):c.1922G>C (p.Arg641Pro)
|
|
|
NM_000061.3(BTK):c.233del (p.Gln78fs)
|
rs2147447513
|
|
NM_000061.3(BTK):c.240G>A (p.Pro80=)
|
rs1569296295
|
|
NM_000061.3(BTK):c.371G>A (p.Trp124Ter)
|
rs1555980049
|
|
NM_000061.3(BTK):c.588+1G>T
|
rs1569293252
|
|
NM_000061.3(BTK):c.588+2T>A
|
rs1555978777
|
|
NM_000061.3(BTK):c.777-2A>G
|
rs193922129
|
|
NM_000061.3(BTK):c.799_806del (p.Asn267fs)
|
rs1555978412
|
|
NM_000061.3(BTK):c.806del (p.Val269fs)
|
rs1926614700
|
|
NM_000061.3(BTK):c.840-1G>A
|
rs193922131
|
|
NM_000061.3(BTK):c.895-2A>G
|
rs193922132
|
|
NM_000061.3(BTK):c.998A>G (p.His333Arg)
|
rs193922133
|
|
NM_000064.4(C3):c.1774C>T (p.Arg592Trp)
|
|
|
NM_000064.4(C3):c.1775G>A (p.Arg592Gln)
|
rs121909583
|
|
NM_000064.4(C3):c.4030-2A>G
|
|
|
NM_000069.3(CACNA1S):c.4931T>A (p.Leu1644Ter)
|
|
|
NM_000070.3(CAPN3):c.1395GGA[2] (p.Glu467del)
|
rs746075428
|
|
NM_000070.3(CAPN3):c.545T>A (p.Leu182Gln)
|
rs2141164715
|
|
NM_000070.3(CAPN3):c.779C>T (p.Ser260Phe)
|
|
|
NM_000071.3(CBS):c.1616T>C (p.Leu539Ser)
|
rs121964968
|
|
NM_000071.3(CBS):c.162G>A (p.Trp54Ter)
|
rs199948079
|
|
NM_000071.3(CBS):c.457G>A (p.Gly153Arg)
|
rs745704046
|
|
NM_000071.3(CBS):c.502G>A (p.Val168Met)
|
rs121964970
|
|
NM_000071.3(CBS):c.676G>A (p.Ala226Thr)
|
rs763835246
|
|
NM_000071.3(CBS):c.862G>A (p.Ala288Thr)
|
rs141502207
|
|
NM_000071.3(CBS):c.862G>C (p.Ala288Pro)
|
rs141502207
|
|
NM_000071.3(CBS):c.904G>A (p.Glu302Lys)
|
rs779270933
|
|
NM_000071.3(CBS):c.955-2A>G
|
|
|
NM_000073.3(CD3G):c.213del (p.Lys71fs)
|
rs570768621
|
|
NM_000073.3(CD3G):c.213dup (p.Trp72fs)
|
rs570768621
|
|
NM_000073.3(CD3G):c.484-1G>A
|
|
|
NM_000074.3(CD40LG):c.189del (p.Phe63fs)
|
rs193922134
|
|
NM_000074.3(CD40LG):c.288+1G>A
|
rs1569376229
|
|
NM_000074.3(CD40LG):c.340C>T (p.Gln114Ter)
|
rs2076113325
|
|
NM_000074.3(CD40LG):c.632C>A (p.Thr211Asn)
|
rs1569377829
|
|
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[3] (p.Ala4_Pro11dup)
|
rs587780668
|
|
NM_000077.5(CDKN2A):c.149A>G (p.Gln50Arg)
|
rs587778189
|
|
NM_000077.5(CDKN2A):c.341C>T (p.Pro114Leu)
|
rs121913386
|
|
NM_000077.5(CDKN2A):c.67G>T (p.Gly23Cys)
|
rs1131691186
|
|
NM_000077.5(CDKN2A):c.68G>A (p.Gly23Asp)
|
rs1064794292
|
|
NM_000079.4(CHRNA1):c.44-1G>A
|
|
|
NM_000080.4(CHRNE):c.604A>T (p.Asn202Tyr)
|
|
|
NM_000080.4(CHRNE):c.905C>G (p.Pro302Arg)
|
rs370019023
|
|
NM_000082.4(ERCC8):c.611_616del (p.Thr204_Ala205del)
|
rs2112491212
|
|
NM_000083.3(CLCN1):c.1231G>T (p.Gly411Cys)
|
rs756199349
|
|
NM_000083.3(CLCN1):c.1297T>C (p.Trp433Arg)
|
rs1027814542
|
|
NM_000083.3(CLCN1):c.434-2_434dup
|
rs753470655
|
|
NM_000088.4(COL1A1):c.1021G>T (p.Gly341Cys)
|
rs193922137
|
|
NM_000088.4(COL1A1):c.1235C>G (p.Pro412Arg)
|
rs193922138
|
|
NM_000088.4(COL1A1):c.1299+5G>A
|
rs193922139
|
|
NM_000088.4(COL1A1):c.1544G>C (p.Gly515Ala)
|
rs193922140
|
|
NM_000088.4(COL1A1):c.1657del (p.Thr553fs)
|
rs193922141
|
|
NM_000088.4(COL1A1):c.1732G>A (p.Gly578Ser)
|
rs1907330109
|
|
NM_000088.4(COL1A1):c.1812del (p.Gly605fs)
|
rs193922143
|
|
NM_000088.4(COL1A1):c.2062C>T (p.Gln688Ter)
|
rs193922144
|
|
NM_000088.4(COL1A1):c.2161C>T (p.Gln721Ter)
|
rs193922145
|
|
NM_000088.4(COL1A1):c.2398-1G>C
|
rs193922147
|
|
NM_000088.4(COL1A1):c.2418del (p.Gly809fs)
|
rs193922148
|
|
NM_000088.4(COL1A1):c.2434G>A (p.Gly812Ser)
|
rs886042260
|
|
NM_000088.4(COL1A1):c.2450del (p.Pro817fs)
|
rs193922149
|
|
NM_000088.4(COL1A1):c.2685del (p.Gly896fs)
|
rs193922151
|
|
NM_000088.4(COL1A1):c.2897A>G (p.Gln966Arg)
|
rs193922152
|
|
NM_000088.4(COL1A1):c.2901_2902del (p.Gly968fs)
|
rs1555572406
|
|
NM_000088.4(COL1A1):c.299_300delAG
|
rs193922154
|
|
NM_000088.4(COL1A1):c.370-2A>G
|
rs193922155
|
|
NM_000088.4(COL1A1):c.517G>T (p.Gly173Ter)
|
rs193922157
|
|
NM_000088.4(COL1A1):c.579del (p.Gly194fs)
|
rs72667023
|
|
NM_000088.4(COL1A1):c.608G>C (p.Gly203Ala)
|
|
|
NM_000088.4(COL1A1):c.751-2A>G
|
rs193922158
|
|
NM_000088.4(COL1A1):c.805G>A (p.Gly269Ser)
|
rs72645328
|
|
NM_000089.4(COL1A2):c.1423G>A (p.Gly475Ser)
|
rs755058199
|
|
NM_000089.4(COL1A2):c.1837G>A (p.Gly613Arg)
|
rs1792044352
|
|
NM_000089.4(COL1A2):c.1873G>A (p.Gly625Ser)
|
rs193922162
|
|
NM_000089.4(COL1A2):c.1991G>A (p.Gly664Asp)
|
rs72658154
|
|
NM_000089.4(COL1A2):c.1999G>T (p.Gly667Cys)
|
rs1554397369
|
|
NM_000089.4(COL1A2):c.2827G>A (p.Gly943Arg)
|
rs193922165
|
|
NM_000089.4(COL1A2):c.3106-2del
|
rs193922166
|
|
NM_000089.4(COL1A2):c.3250G>T (p.Gly1084Cys)
|
rs1792298693
|
|
NM_000089.4(COL1A2):c.3284del (p.Pro1095fs)
|
rs193922167
|
|
NM_000089.4(COL1A2):c.3355G>C (p.Ala1119Pro)
|
rs193922168
|
|
NM_000089.4(COL1A2):c.677G>A (p.Gly226Asp)
|
rs193922173
|
|
NM_000089.4(COL1A2):c.739G>A (p.Gly247Ser)
|
|
|
NM_000089.4(COL1A2):c.845GTG[1] (p.Gly283del)
|
rs193922175
|
|
NM_000090.4(COL3A1):c.1106G>T (p.Gly369Val)
|
rs1057521930
|
|
NM_000090.4(COL3A1):c.1691G>C (p.Gly564Ala)
|
rs193922176
|
|
NM_000090.4(COL3A1):c.1762G>A (p.Gly588Ser)
|
rs1553508338
|
|
NM_000090.4(COL3A1):c.2914G>A (p.Gly972Ser)
|
rs587779723
|
|
NM_000090.4(COL3A1):c.3103G>A (p.Gly1035Ser)
|
rs587779704
|
|
NM_000090.4(COL3A1):c.3103G>T (p.Gly1035Cys)
|
rs587779704
|
|
NM_000090.4(COL3A1):c.3437G>A (p.Gly1146Glu)
|
rs587779495
|
|
NM_000090.4(COL3A1):c.447+1G>A
|
rs1559053022
|
|
NM_000090.4(COL3A1):c.937_938dup (p.Pro314fs)
|
rs772827388
|
|
NM_000090.4(COL3A1):c.951+4A>T
|
rs587779598
|
|
NM_000090.4(COL3A1):c.998G>A (p.Gly333Asp)
|
rs587779673
|
|
NM_000091.5(COL4A3):c.1150G>A (p.Gly384Arg)
|
|
|
NM_000091.5(COL4A3):c.2417dup (p.Gly807fs)
|
rs1440033157
|
|
NM_000091.5(COL4A3):c.2764G>C (p.Gly922Arg)
|
|
|
NM_000091.5(COL4A3):c.3211-1G>C
|
rs1553762936
|
|
NM_000091.5(COL4A3):c.3212G>C (p.Gly1071Ala)
|
|
|
NM_000091.5(COL4A3):c.388-2A>G
|
rs2069361375
|
|
NM_000091.5(COL4A3):c.4337_4338del (p.Phe1446fs)
|
rs776244020
|
|
NM_000091.5(COL4A3):c.610-1G>A
|
|
|
NM_000091.5(COL4A3):c.778G>T (p.Glu260Ter)
|
rs2125934541
|
|
NM_000092.5(COL4A4):c.2788G>A (p.Gly930Ser)
|
|
|
NM_000092.5(COL4A4):c.2851G>A (p.Gly951Arg)
|
|
|
NM_000092.5(COL4A4):c.81_86del (p.27IL[1])
|
rs771943519
|
|
NM_000093.5(COL5A1):c.4393-4_4398del
|
|
|
NM_000094.4(COL7A1):c.3831+1G>A
|
|
|
NM_000094.4(COL7A1):c.3975+2T>A
|
rs753368984
|
|
NM_000094.4(COL7A1):c.4900-1G>A
|
rs2107710536
|
|
NM_000094.4(COL7A1):c.5389-2_5389-1del
|
|
|
NM_000094.4(COL7A1):c.682+1G>T
|
|
|
NM_000094.4(COL7A1):c.7580G>A (p.Gly2527Glu)
|
|
|
NM_000094.4(COL7A1):c.7669G>A (p.Gly2557Arg)
|
|
|
NM_000096.4(CP):c.2066del (p.Pro689fs)
|
rs386134147
|
|
NM_000096.4(CP):c.2756T>C (p.Leu919Pro)
|
rs1135401784
|
|
NM_000098.3(CPT2):c.1223_1224del (p.Ser408fs)
|
rs752373512
|
|
NM_000098.3(CPT2):c.1569_1570del (p.His523fs)
|
rs1572385947
|
|
NM_000098.3(CPT2):c.852del (p.Glu285fs)
|
rs1057517729
|
|
NM_000101.4(CYBA):c.288-3_300del
|
rs1567608830
|
|
NM_000102.4(CYP17A1):c.1039C>T (p.Arg347Cys)
|
rs104894149
|
|
NM_000102.4(CYP17A1):c.1112T>C (p.Ile371Thr)
|
|
|
NM_000102.4(CYP17A1):c.334_336dup (p.Ile112dup)
|
rs1844148108
|
|
NM_000102.4(CYP17A1):c.521C>A (p.Ala174Glu)
|
rs752540777
|
|
NM_000102.4(CYP17A1):c.667-13_667-10del
|
rs1844127277
|
|
NM_000104.4(CYP1B1):c.2T>C (p.Met1Thr)
|
rs72549389
|
|
NM_000108.5(DLD):c.1058T>C (p.Ile353Thr)
|
rs2116271469
|
|
NM_000108.5(DLD):c.268-1G>A
|
|
|
NM_000110.3(DPYD):c.1977_1983delTTCTGGA
|
rs1440380546
|
|
NM_000110.4(DPYD):c.1109_1110del (p.Ile370fs)
|
rs749571474
|
|
NM_000110.4(DPYD):c.1155_1156del (p.Cys385_Glu386delinsTer)
|
rs769925158
|
|
NM_000110.4(DPYD):c.1764del (p.Arg589fs)
|
rs1346124437
|
|
NM_000110.4(DPYD):c.1905+1G>C
|
rs3918290
|
|
NM_000110.4(DPYD):c.1A>C (p.Met1Leu)
|
|
|
NM_000110.4(DPYD):c.2043_2058del (p.Leu682fs)
|
rs773499329
|
|
NM_000110.4(DPYD):c.233+1G>T
|
rs1553247675
|
|
NM_000110.4(DPYD):c.2746del (p.Arg916fs)
|
|
|
NM_000110.4(DPYD):c.2843T>C (p.Ile948Thr)
|
|
|
NM_000110.4(DPYD):c.2983G>T (p.Val995Phe)
|
rs1801268
|
|
NM_000110.4(DPYD):c.658C>T (p.Gln220Ter)
|
rs1220608789
|
|
NM_000111.3(SLC26A3):c.386C>T (p.Pro129Leu)
|
rs386833480
|
|
NM_000112.4(SLC26A2):c.1034T>A (p.Leu345Ter)
|
|
|
NM_000112.4(SLC26A2):c.1655C>A (p.Ser552Ter)
|
rs1755094376
|
|
NM_000112.4(SLC26A2):c.1707C>G (p.Tyr569Ter)
|
rs766836061
|
|
NM_000112.4(SLC26A2):c.2069_2070del (p.Val690fs)
|
rs1755106202
|
|
NM_000112.4(SLC26A2):c.2124_2125dup (p.Phe709fs)
|
rs1554095433
|
|
NM_000112.4(SLC26A2):c.451del (p.Tyr151fs)
|
rs786204675
|
|
NM_000112.4(SLC26A2):c.55G>T (p.Gly19Ter)
|
rs386833507
|
|
NM_000116.5(TAFAZZIN):c.777+1G>A
|
rs2068606932
|
|
NM_000117.3(EMD):c.135dup (p.Arg46fs)
|
rs1557182301
|
|
NM_000123.4(ERCC5):c.1068del (p.Ser357fs)
|
rs1325131028
|
|
NM_000123.4(ERCC5):c.2427del (p.Asp809fs)
|
rs777455688
|
|
NM_000123.4(ERCC5):c.2705del (p.Asn902fs)
|
|
|
NM_000123.4(ERCC5):c.2890del (p.Arg964fs)
|
|
|
NM_000124.4(ERCC6):c.1738C>T (p.Gln580Ter)
|
|
|
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg)
|
rs368728467
|
|
NM_000124.4(ERCC6):c.2952_2953del (p.Asn984fs)
|
rs1590406503
|
|
NM_000124.4(ERCC6):c.39_49delinsA (p.Glu14fs)
|
rs2132639937
|
|
NM_000124.4(ERCC6):c.4146del (p.Leu1384fs)
|
|
|
NM_000124.4(ERCC6):c.41_50del (p.Glu14fs)
|
rs1272960343
|
|
NM_000127.3(EXT1):c.1315_1337dup (p.Asn446_Lys447insHisValThrValTer)
|
rs1563571296
|
|
NM_000128.4(F11):c.1831G>A (p.Val611Met)
|
|
|
NM_000128.4(F11):c.688T>A (p.Cys230Ser)
|
|
|
NM_000128.4(F11):c.752_755+25delinsT
|
|
|
NM_000128.4(F11):c.977G>A (p.Arg326His)
|
rs1554082932
|
|
NM_000132.4(F8):c.5101G>A (p.Glu1701Lys)
|
|
|
NM_000132.4(F8):c.5587-93C>T
|
rs1264918703
|
|
NM_000132.4(F8):c.6443A>G (p.Asn2148Ser)
|
rs1321311878
|
|
NM_000132.4(F8):c.6956dup (p.Leu2320fs)
|
rs1475873048
|
|
NM_000132.4(F8):c.979C>G (p.Leu327Val)
|
rs1603435395
|
|
NM_000133.4(F9):c.1004G>T (p.Cys335Phe)
|
|
|
NM_000133.4(F9):c.1175ACA[1] (p.Asn393del)
|
|
|
NM_000133.4(F9):c.520G>A (p.Val174Met)
|
rs1603265504
|
|
NM_000133.4(F9):c.731T>C (p.Leu244Ser)
|
rs1603267171
|
|
NM_000133.4(F9):c.853G>T (p.Glu285Ter)
|
|
|
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs)
|
rs878853660
|
|
NM_000135.4(FANCA):c.1352G>A (p.Trp451Ter)
|
|
|
NM_000135.4(FANCA):c.1459dup (p.Arg487fs)
|
rs2039844868
|
|
NM_000135.4(FANCA):c.1567-20A>G
|
rs775154397
|
|
NM_000135.4(FANCA):c.1912G>T (p.Gly638Ter)
|
rs2143367693
|
|
NM_000135.4(FANCA):c.2664del (p.Ala889fs)
|
|
|
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu)
|
rs1555536390
|
|
NM_000135.4(FANCA):c.3973del (p.Asp1325fs)
|
rs2151712879
|
|
NM_000135.4(FANCA):c.4258G>T (p.Glu1420Ter)
|
rs984285795
|
|
NM_000135.4(FANCA):c.427-3C>G
|
rs2040847223
|
|
NM_000136.3(FANCC):c.1155-1G>C
|
rs1554829575
|
|
NM_000136.3(FANCC):c.1533+1G>T
|
rs753885687
|
|
NM_000136.3(FANCC):c.1555dup (p.Thr519fs)
|
rs794726667
|
|
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter)
|
rs730881731
|
|
NM_000136.3(FANCC):c.377_378del (p.Arg126fs)
|
rs1564720637
|
|
NM_000136.3(FANCC):c.487_490del (p.Glu163fs)
|
rs730881708
|
|
NM_000136.3(FANCC):c.489_490del (p.Asn164fs)
|
rs730881708
|
|
NM_000136.3(FANCC):c.514C>T (p.Gln172Ter)
|
|
|
NM_000136.3(FANCC):c.996+1G>A
|
rs370510954
|
|
NM_000137.4(FAH):c.1203C>G (p.Tyr401Ter)
|
|
|
NM_000137.4(FAH):c.192+1G>T
|
rs786204683
|
|
NM_000137.4(FAH):c.47A>T (p.Asn16Ile)
|
rs121965073
|
|
NM_000137.4(FAH):c.572_577delinsTCCAA (p.Gly191fs)
|
|
|
NM_000138.4(FBN1):c.4812_4813delinsCT (p.Leu1604_Glu1605delinsPheTer)
|
rs1566903995
|
|
NM_000138.4(FBN1):c.7491_7498delinsAGCAACACAACCAAACAACACAATG (p.Phe2498fs)
|
rs1566891846
|
|
NM_000138.5(FBN1):c.1042C>T (p.Gln348Ter)
|
rs886039550
|
|
NM_000138.5(FBN1):c.1088del (p.Gly363fs)
|
rs1555400598
|
|
NM_000138.5(FBN1):c.1148-2A>G
|
rs397515756
|
|
NM_000138.5(FBN1):c.1185dup (p.Pro396fs)
|
rs2043801575
|
|
NM_000138.5(FBN1):c.1211del (p.Pro404fs)
|
rs112289537
|
|
NM_000138.5(FBN1):c.1297G>T (p.Glu433Ter)
|
rs2141330884
|
|
NM_000138.5(FBN1):c.1377_1378del (p.Cys460fs)
|
rs1597581008
|
|
NM_000138.5(FBN1):c.1426T>C (p.Cys476Arg)
|
rs794728326
|
|
NM_000138.5(FBN1):c.1459G>T (p.Glu487Ter)
|
rs1555400374
|
|
NM_000138.5(FBN1):c.1511G>C (p.Cys504Ser)
|
rs1156747241
|
|
NM_000138.5(FBN1):c.1520del (p.Asn507fs)
|
|
|
NM_000138.5(FBN1):c.164+2T>A
|
rs727503058
|
|
NM_000138.5(FBN1):c.1669_1677dup (p.Cys557_Ala559dup)
|
rs193922181
|
|
NM_000138.5(FBN1):c.1709del (p.Cys570fs)
|
rs193922182
|
|
NM_000138.5(FBN1):c.1710T>A (p.Cys570Ter)
|
rs193922183
|
|
NM_000138.5(FBN1):c.1714+1G>T
|
rs2043745437
|
|
NM_000138.5(FBN1):c.1817C>A (p.Ser606Ter)
|
rs794728176
|
|
NM_000138.5(FBN1):c.1846G>A (p.Glu616Lys)
|
rs397515764
|
|
NM_000138.5(FBN1):c.1868G>T (p.Cys623Phe)
|
rs1566914030
|
|
NM_000138.5(FBN1):c.1888A>T (p.Asn630Tyr)
|
rs1555399821
|
|
NM_000138.5(FBN1):c.18_31dup (p.Leu11fs)
|
rs1890262867
|
|
NM_000138.5(FBN1):c.1916G>C (p.Cys639Ser)
|
rs878853676
|
|
NM_000138.5(FBN1):c.1948C>T (p.Arg650Cys)
|
rs193922185
|
|
NM_000138.5(FBN1):c.1961-1G>A
|
rs2043686634
|
|
NM_000138.5(FBN1):c.1A>C (p.Met1Leu)
|
rs730880097
|
|
NM_000138.5(FBN1):c.2096_2097del (p.Cys699fs)
|
rs1555399748
|
|
NM_000138.5(FBN1):c.2131T>C (p.Cys711Arg)
|
rs1555399481
|
|
NM_000138.5(FBN1):c.2186del (p.Leu729fs)
|
rs193922187
|
|
NM_000138.5(FBN1):c.2227C>T (p.Arg743Cys)
|
rs794728188
|
|
NM_000138.5(FBN1):c.2237A>G (p.Tyr746Cys)
|
rs1555399372
|
|
NM_000138.5(FBN1):c.2242T>C (p.Cys748Arg)
|
rs397515765
|
|
NM_000138.5(FBN1):c.2306G>A (p.Cys769Tyr)
|
rs794728190
|
|
NM_000138.5(FBN1):c.2369G>C (p.Cys790Ser)
|
rs193922188
|
|
NM_000138.5(FBN1):c.2381dup (p.Phe796fs)
|
rs2141305022
|
|
NM_000138.5(FBN1):c.2479T>C (p.Ser827Pro)
|
rs193922189
|
|
NM_000138.5(FBN1):c.2542A>C (p.Thr848Pro)
|
rs193922191
|
|
NM_000138.5(FBN1):c.2557T>A (p.Cys853Ser)
|
rs1555399165
|
|
NM_000138.5(FBN1):c.266G>C (p.Cys89Ser)
|
rs112660651
|
|
NM_000138.5(FBN1):c.2677G>C (p.Asp893His)
|
rs193922193
|
|
NM_000138.5(FBN1):c.2682del (p.Ile895fs)
|
rs193922194
|
|
NM_000138.5(FBN1):c.2800A>T (p.Lys934Ter)
|
|
|
NM_000138.5(FBN1):c.2837del (p.Thr946fs)
|
rs2043568185
|
|
NM_000138.5(FBN1):c.2855-1G>C
|
rs112202622
|
|
NM_000138.5(FBN1):c.2939G>T (p.Cys980Phe)
|
rs1555398816
|
|
NM_000138.5(FBN1):c.2953G>A (p.Gly985Arg)
|
rs794728199
|
|
NM_000138.5(FBN1):c.3024T>A (p.Cys1008Ter)
|
rs1057523654
|
|
NM_000138.5(FBN1):c.3140_3141del (p.Thr1047fs)
|
rs193922197
|
|
NM_000138.5(FBN1):c.3146G>A (p.Gly1049Asp)
|
rs1555398670
|
|
NM_000138.5(FBN1):c.3187dup (p.Ser1063fs)
|
rs1566909885
|
|
NM_000138.5(FBN1):c.3193del (p.Glu1065fs)
|
rs193922198
|
|
NM_000138.5(FBN1):c.3209A>G (p.Asp1070Gly)
|
rs1555398648
|
|
NM_000138.5(FBN1):c.3413G>C (p.Cys1138Ser)
|
rs397515791
|
|
NM_000138.5(FBN1):c.3478G>T (p.Glu1160Ter)
|
rs193922199
|
|
NM_000138.5(FBN1):c.3487_3488dup (p.Leu1165fs)
|
rs2043515102
|
|
NM_000138.5(FBN1):c.3513C>G (p.Cys1171Trp)
|
rs775417975
|
|
NM_000138.5(FBN1):c.385T>A (p.Cys129Ser)
|
rs199474693
|
|
NM_000138.5(FBN1):c.3915C>A (p.Cys1305Ter)
|
rs1555398152
|
|
NM_000138.5(FBN1):c.401G>A (p.Cys134Tyr)
|
rs1555405043
|
|
NM_000138.5(FBN1):c.4031G>A (p.Gly1344Glu)
|
rs1555397725
|
|
NM_000138.5(FBN1):c.4060del (p.Trp1354fs)
|
rs1555397707
|
|
NM_000138.5(FBN1):c.4155del (p.Ser1386fs)
|
rs2043402071
|
|
NM_000138.5(FBN1):c.4165T>G (p.Cys1389Gly)
|
rs193922203
|
|
NM_000138.5(FBN1):c.4190del (p.Gly1397fs)
|
rs2043401531
|
|
NM_000138.5(FBN1):c.4226_4227del (p.Cys1408_Ser1409insTer)
|
rs1566905976
|
|
NM_000138.5(FBN1):c.4243dup (p.Cys1415fs)
|
rs2043386417
|
|
NM_000138.5(FBN1):c.4311del (p.Ser1438fs)
|
rs2141277871
|
|
NM_000138.5(FBN1):c.441del (p.Gln147fs)
|
rs1555405028
|
|
NM_000138.5(FBN1):c.4467T>A (p.Asn1489Lys)
|
rs193922205
|
|
NM_000138.5(FBN1):c.4520G>A (p.Gly1507Asp)
|
rs794728225
|
|
NM_000138.5(FBN1):c.454A>T (p.Ser152Cys)
|
rs193922206
|
|
NM_000138.5(FBN1):c.4551del (p.Phe1517fs)
|
rs1555397201
|
|
NM_000138.5(FBN1):c.4562del (p.Pro1521fs)
|
rs886039035
|
|
NM_000138.5(FBN1):c.4607del (p.Leu1536fs)
|
rs1555397173
|
|
NM_000138.5(FBN1):c.4640_4641del (p.Thr1547fs)
|
rs1555397163
|
|
NM_000138.5(FBN1):c.4684T>A (p.Cys1562Ser)
|
rs193922207
|
|
NM_000138.5(FBN1):c.497G>A (p.Cys166Tyr)
|
rs397515818
|
|
NM_000138.5(FBN1):c.5014T>G (p.Cys1672Gly)
|
rs112930491
|
|
NM_000138.5(FBN1):c.5021G>C (p.Cys1674Ser)
|
|
|
NM_000138.5(FBN1):c.5089A>T (p.Arg1697Ter)
|
rs2141266739
|
|
NM_000138.5(FBN1):c.510C>G (p.Tyr170Ter)
|
rs111671429
|
|
NM_000138.5(FBN1):c.51_52del (p.Leu17fs)
|
rs2140787769
|
|
NM_000138.5(FBN1):c.5309G>A (p.Cys1770Tyr)
|
rs2043241537
|
|
NM_000138.5(FBN1):c.539-2A>G
|
rs2141358521
|
|
NM_000138.5(FBN1):c.5417G>T (p.Cys1806Phe)
|
rs1555396418
|
|
NM_000138.5(FBN1):c.5422+2T>C
|
rs1555396417
|
|
NM_000138.5(FBN1):c.5431G>A (p.Glu1811Lys)
|
rs761857514
|
|
NM_000138.5(FBN1):c.5452T>C (p.Cys1818Arg)
|
|
|
NM_000138.5(FBN1):c.5512G>T (p.Gly1838Cys)
|
rs397515823
|
|
NM_000138.5(FBN1):c.5521_5528del (p.Phe1841fs)
|
rs193922212
|
|
NM_000138.5(FBN1):c.5540G>A (p.Cys1847Tyr)
|
rs1555396185
|
|
NM_000138.5(FBN1):c.5540G>C (p.Cys1847Ser)
|
rs1555396185
|
|
NM_000138.5(FBN1):c.5552A>G (p.Asn1851Ser)
|
rs193922214
|
|
NM_000138.5(FBN1):c.556T>C (p.Cys186Arg)
|
rs193922215
|
|
NM_000138.5(FBN1):c.5587G>A (p.Gly1863Arg)
|
rs1555395987
|
|
NM_000138.5(FBN1):c.5663del (p.Met1888fs)
|
rs1555395972
|
|
NM_000138.5(FBN1):c.5671+1del
|
rs2141252078
|
|
NM_000138.5(FBN1):c.5671G>C (p.Asp1891His)
|
rs193922216
|
|
NM_000138.5(FBN1):c.56C>T (p.Ser19Phe)
|
rs193922218
|
|
NM_000138.5(FBN1):c.5743C>T (p.Arg1915Cys)
|
rs1555395826
|
|
NM_000138.5(FBN1):c.5824T>C (p.Cys1942Arg)
|
rs1555395762
|
|
NM_000138.5(FBN1):c.5874C>A (p.Cys1958Ter)
|
rs1555395750
|
|
NM_000138.5(FBN1):c.5885A>G (p.Tyr1962Cys)
|
rs1346043320
|
|
NM_000138.5(FBN1):c.5943del (p.Arg1982fs)
|
rs1555395661
|
|
NM_000138.5(FBN1):c.5951G>A (p.Cys1984Tyr)
|
rs1555395658
|
|
NM_000138.5(FBN1):c.6006_6012dup (p.Ser2005fs)
|
rs193922220
|
|
NM_000138.5(FBN1):c.626G>T (p.Cys209Phe)
|
rs1555401687
|
|
NM_000138.5(FBN1):c.6276G>A (p.Trp2092Ter)
|
rs1555395260
|
|
NM_000138.5(FBN1):c.6354C>G (p.Ile2118Met)
|
rs112989722
|
|
NM_000138.5(FBN1):c.6385G>T (p.Asp2129Tyr)
|
rs193922223
|
|
NM_000138.5(FBN1):c.649T>G (p.Trp217Gly)
|
rs193922224
|
|
NM_000138.5(FBN1):c.6553_6556dup (p.Gly2186fs)
|
rs193922225
|
|
NM_000138.5(FBN1):c.6704del (p.Gly2235fs)
|
rs193922226
|
|
NM_000138.5(FBN1):c.6793_6800dup (p.Leu2268fs)
|
rs193922227
|
|
NM_000138.5(FBN1):c.6824_6842del (p.Ile2275fs)
|
|
|
NM_000138.5(FBN1):c.7070_7071dup (p.Val2358fs)
|
rs1555394571
|
|
NM_000138.5(FBN1):c.7168T>C (p.Cys2390Arg)
|
rs397515847
|
|
NM_000138.5(FBN1):c.7229A>C (p.His2410Pro)
|
rs193922230
|
|
NM_000138.5(FBN1):c.7352dup (p.Pro2452fs)
|
|
|
NM_000138.5(FBN1):c.7387G>T (p.Glu2463Ter)
|
rs1566892735
|
|
NM_000138.5(FBN1):c.7432_7435del (p.Glu2478fs)
|
rs1057518012
|
|
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)
|
rs363811
|
|
NM_000138.5(FBN1):c.7663G>A (p.Gly2555Arg)
|
rs1566891655
|
|
NM_000138.5(FBN1):c.7678del (p.Gln2560fs)
|
rs193922235
|
|
NM_000138.5(FBN1):c.7732C>T (p.Gln2578Ter)
|
rs765942432
|
|
NM_000138.5(FBN1):c.7785_7806dup (p.Asn2603fs)
|
|
|
NM_000138.5(FBN1):c.7806G>A (p.Trp2602Ter)
|
rs193922236
|
|
NM_000138.5(FBN1):c.7833C>A (p.Cys2611Ter)
|
|
|
NM_000138.5(FBN1):c.7879G>A (p.Gly2627Arg)
|
rs193922239
|
|
NM_000138.5(FBN1):c.7879G>C (p.Gly2627Arg)
|
rs193922239
|
|
NM_000138.5(FBN1):c.7898G>C (p.Cys2633Ser)
|
rs193922240
|
|
NM_000138.5(FBN1):c.8203del (p.Glu2735fs)
|
rs193922241
|
|
NM_000138.5(FBN1):c.8359_8360del (p.Leu2787fs)
|
rs1597506811
|
|
NM_000138.5(FBN1):c.8359_8360dup (p.Leu2787_Thr2788insTer)
|
rs1597506811
|
|
NM_000138.5(FBN1):c.8412_8417del (p.Lys2805_Ile2806del)
|
rs193922246
|
|
NM_000138.5(FBN1):c.863-2A>G
|
|
|
NM_000138.5(FBN1):c.945T>A (p.Cys315Ter)
|
rs2043912235
|
|
NM_000143.4(FH):c.1002T>G (p.Ser334Arg)
|
rs2147916185
|
|
NM_000143.4(FH):c.224del (p.Ser75fs)
|
rs1660242061
|
|
NM_000143.4(FH):c.738+2T>C
|
rs1060500901
|
|
NM_000147.5(FUCA1):c.1289_1301del (p.Leu430fs)
|
|
|
NM_000147.5(FUCA1):c.952G>T (p.Glu318Ter)
|
rs201499886
|
|
NM_000151.4(G6PC1):c.247C>A (p.Arg83Ser)
|
|
|
NM_000151.4(G6PC1):c.479G>A (p.Trp160Ter)
|
rs2056081522
|
|
NM_000151.4(G6PC1):c.706T>A (p.Trp236Arg)
|
rs2056092151
|
|
NM_000151.4(G6PC1):c.764C>T (p.Thr255Ile)
|
rs2056092654
|
|
NM_000152.5(GAA):c.1190C>T (p.Pro397Leu)
|
rs776008078
|
|
NM_000152.5(GAA):c.1716C>G (p.His572Gln)
|
rs772962666
|
|
NM_000152.5(GAA):c.1748C>T (p.Ser583Phe)
|
rs2143883845
|
|
NM_000152.5(GAA):c.1802C>G (p.Ser601Trp)
|
rs374470794
|
|
NM_000152.5(GAA):c.1841C>T (p.Thr614Met)
|
rs369531647
|
|
NM_000152.5(GAA):c.1951_1952delinsT (p.Gly651fs)
|
rs1567835781
|
|
NM_000152.5(GAA):c.1952del (p.Gly651fs)
|
rs1567835775
|
|
NM_000152.5(GAA):c.2167G>A (p.Val723Met)
|
rs767247397
|
|
NM_000152.5(GAA):c.307T>C (p.Cys103Arg)
|
rs398123174
|
|
NM_000152.5(GAA):c.3G>A (p.Met1Ile)
|
rs1187796945
|
|
NM_000152.5(GAA):c.836G>A (p.Trp279Ter)
|
rs2039122730
|
|
NM_000152.5(GAA):c.858+2T>A
|
rs1555599713
|
|
NM_000152.5(GAA):c.953T>A (p.Met318Lys)
|
rs121907936
|
|
NM_000152.5(GAA):c.956-5_957del
|
|
|
NM_000153.4(GALC):c.1468T>A (p.Tyr490Asn)
|
rs202135871
|
|
NM_000153.4(GALC):c.1834+1G>A
|
|
|
NM_000153.4(GALC):c.1952G>A (p.Trp651Ter)
|
|
|
NM_000153.4(GALC):c.349A>T (p.Met117Leu)
|
rs145580093
|
|
NM_000153.4(GALC):c.560A>T (p.Asp187Val)
|
rs997021099
|
|
NM_000153.4(GALC):c.578T>C (p.Ile193Thr)
|
rs1555383498
|
|
NM_000153.4(GALC):c.621+5G>A
|
rs1555383306
|
|
NM_000153.4(GALC):c.824A>G (p.Asp275Gly)
|
|
|
NM_000153.4(GALC):c.884A>T (p.Asn295Ile)
|
rs746922378
|
|
NM_000154.2(GALK1):c.686dup (p.His229fs)
|
|
|
NM_000155.4(GALT):c.1052del (p.Pro351fs)
|
rs111033813
|
|
NM_000155.4(GALT):c.1060-1G>A
|
rs367543268
|
|
NM_000155.4(GALT):c.213dup (p.Asn72fs)
|
|
|
NM_000155.4(GALT):c.221T>C (p.Leu74Pro)
|
rs111033663
|
|
NM_000155.4(GALT):c.385A>T (p.Met129Leu)
|
rs193922248
|
|
NM_000155.4(GALT):c.424A>G (p.Met142Val)
|
rs111033692
|
|
NM_000155.4(GALT):c.552C>A (p.His184Gln)
|
rs111033717
|
|
NM_000155.4(GALT):c.598C>T (p.Gln200Ter)
|
rs1564101619
|
|
NM_000155.4(GALT):c.598del (p.Gln200fs)
|
rs111033738
|
|
NM_000155.4(GALT):c.652del (p.Leu217_Leu218insTer)
|
rs111033742
|
|
NM_000155.4(GALT):c.687+1G>T
|
rs193922250
|
|
NM_000155.4(GALT):c.761dup (p.Leu255fs)
|
rs747036550
|
|
NM_000155.4(GALT):c.776G>A (p.Arg259Gln)
|
rs886042070
|
|
NM_000155.4(GALT):c.888C>G (p.Tyr296Ter)
|
rs1554709447
|
|
NM_000156.6(GAMT):c.11_12del (p.Pro4fs)
|
|
|
NM_000156.6(GAMT):c.392-2A>G
|
rs2082618808
|
|
NM_000156.6(GAMT):c.475del (p.Leu159fs)
|
|
|
NM_000157.4(GBA1):c.1052G>C (p.Trp351Ser)
|
rs1553217294
|
|
NM_000157.4(GBA1):c.1171G>C (p.Val391Leu)
|
rs398123527
|
|
NM_000157.4(GBA1):c.1214G>A (p.Ser405Asn)
|
|
|
NM_000157.4(GBA1):c.1215C>A (p.Ser405Arg)
|
|
|
NM_000157.4(GBA1):c.1250G>A (p.Trp417Ter)
|
rs754743440
|
|
NM_000157.4(GBA1):c.1300C>T (p.Arg434Cys)
|
|
|
NM_000157.4(GBA1):c.1505+2T>A
|
rs2148070287
|
|
NM_000157.4(GBA1):c.260G>A (p.Arg87Gln)
|
|
|
NM_000157.4(GBA1):c.39del (p.Lys13fs)
|
|
|
NM_000157.4(GBA1):c.454+1G>A
|
rs539166948
|
|
NM_000157.4(GBA1):c.484A>G (p.Met162Val)
|
|
|
NM_000157.4(GBA1):c.661C>A (p.Pro221Thr)
|
rs866075757
|
|
NM_000157.4(GBA1):c.776A>G (p.Tyr259Cys)
|
|
|
NM_000157.4(GBA1):c.847T>C (p.Tyr283His)
|
|
|
NM_000157.4(GBA1):c.894C>A (p.Phe298Leu)
|
rs1671825414
|
|
NM_000157.4(GBA1):c.914del (p.Pro305fs)
|
rs1366567865
|
|
NM_000158.4(GBE1):c.1245_1258del (p.Gly416fs)
|
rs1703800818
|
|
NM_000158.4(GBE1):c.1336-1G>A
|
rs375253942
|
|
NM_000158.4(GBE1):c.1543C>T (p.Arg515Cys)
|
rs80338672
|
|
NM_000158.4(GBE1):c.1804-2A>T
|
rs1224090803
|
|
NM_000159.4(GCDH):c.1157G>C (p.Arg386Pro)
|
rs398123190
|
|
NM_000159.4(GCDH):c.1233del (p.Asn411fs)
|
rs2145955299
|
|
NM_000159.4(GCDH):c.1298C>A (p.Ala433Glu)
|
rs933624223
|
|
NM_000159.4(GCDH):c.148T>C (p.Trp50Arg)
|
|
|
NM_000159.4(GCDH):c.262C>A (p.Arg88Ser)
|
rs142967670
|
|
NM_000159.4(GCDH):c.281G>T (p.Arg94Leu)
|
rs566417795
|
|
NM_000159.4(GCDH):c.329_332del (p.Ile110fs)
|
rs1555749434
|
|
NM_000159.4(GCDH):c.413G>A (p.Arg138Lys)
|
rs747370741
|
|
NM_000159.4(GCDH):c.636-3_639del
|
rs1555750535
|
|
NM_000159.4(GCDH):c.636-4_639del
|
rs775103982
|
|
NM_000159.4(GCDH):c.700C>T (p.Arg234Trp)
|
rs964724051
|
|
NM_000159.4(GCDH):c.776C>T (p.Ser259Leu)
|
rs367699815
|
|
NM_000161.3(GCH1):c.614T>A (p.Val205Glu)
|
rs1418922853
|
|
NM_000162.5(GCK):c.1002_1003delinsAA (p.Phe334_Val335delinsLeuMet)
|
rs193922252
|
|
NM_000162.5(GCK):c.1003_1004insAA (p.Val335fs)
|
rs193922253
|
|
NM_000162.5(GCK):c.1018A>G (p.Ser340Gly)
|
rs193922255
|
|
NM_000162.5(GCK):c.1019+1G>T
|
|
|
NM_000162.5(GCK):c.1019+5G>A
|
|
|
NM_000162.5(GCK):c.1020-1G>C
|
rs193922258
|
|
NM_000162.5(GCK):c.103A>T (p.Arg35Ter)
|
rs193922259
|
|
NM_000162.5(GCK):c.107G>C (p.Arg36Pro)
|
rs193922261
|
|
NM_000162.5(GCK):c.109A>G (p.Met37Val)
|
|
|
NM_000162.5(GCK):c.1114G>T (p.Glu372Ter)
|
rs193922262
|
|
NM_000162.5(GCK):c.1124C>T (p.Ser375Phe)
|
rs193922263
|
|
NM_000162.5(GCK):c.1130G>A (p.Arg377His)
|
rs193922264
|
|
NM_000162.5(GCK):c.1136C>A (p.Ala379Glu)
|
rs193922265
|
|
NM_000162.5(GCK):c.113A>C (p.Gln38Pro)
|
rs1064794268
|
|
NM_000162.5(GCK):c.1142T>G (p.Met381Arg)
|
rs193922266
|
|
NM_000162.5(GCK):c.1153G>A (p.Gly385Arg)
|
rs193922267
|
|
NM_000162.5(GCK):c.1157T>C (p.Leu386Pro)
|
rs193922268
|
|
NM_000162.5(GCK):c.1160C>A (p.Ala387Glu)
|
rs193921338
|
|
NM_000162.5(GCK):c.1160C>T (p.Ala387Val)
|
rs193921338
|
|
NM_000162.5(GCK):c.1163G>A (p.Gly388Asp)
|
rs2096271482
|
|
NM_000162.5(GCK):c.1169T>A (p.Ile390Asn)
|
rs193921340
|
|
NM_000162.5(GCK):c.1169T>C (p.Ile390Thr)
|
rs193921340
|
|
NM_000162.5(GCK):c.1174C>A (p.Arg392Ser)
|
|
|
NM_000162.5(GCK):c.1174C>T (p.Arg392Cys)
|
rs1167124132
|
|
NM_000162.5(GCK):c.1175G>T (p.Arg392Leu)
|
rs193922269
|
|
NM_000162.5(GCK):c.1189C>G (p.Arg397Gly)
|
|
|
NM_000162.5(GCK):c.1240A>G (p.Lys414Glu)
|
rs193922272
|
|
NM_000162.5(GCK):c.1268T>A (p.Phe423Tyr)
|
rs193922273
|
|
NM_000162.5(GCK):c.1270C>T (p.His424Tyr)
|
|
|
NM_000162.5(GCK):c.1279_1358delinsTTACA (p.Val427_Ser453delinsLeuGln)
|
rs193922274
|
|
NM_000162.5(GCK):c.1283_1284del (p.Arg428fs)
|
rs193922275
|
|
NM_000162.5(GCK):c.1289T>C (p.Leu430Pro)
|
rs193922277
|
|
NM_000162.5(GCK):c.1307T>A (p.Ile436Asn)
|
rs193922278
|
|
NM_000162.5(GCK):c.131G>A (p.Gly44Asp)
|
rs193922279
|
|
NM_000162.5(GCK):c.1322C>T (p.Ser441Leu)
|
rs1286804191
|
|
NM_000162.5(GCK):c.1332del (p.Ser445fs)
|
rs193922280
|
|
NM_000162.5(GCK):c.1339C>G (p.Arg447Gly)
|
rs193922281
|
|
NM_000162.5(GCK):c.1345G>A (p.Ala449Thr)
|
rs193922282
|
|
NM_000162.5(GCK):c.1354G>C (p.Val452Leu)
|
|
|
NM_000162.5(GCK):c.1358C>T (p.Ser453Leu)
|
rs193922283
|
|
NM_000162.5(GCK):c.1372_1373del (p.Lys458fs)
|
rs193922284
|
|
NM_000162.5(GCK):c.146C>A (p.Thr49Asn)
|
rs193922286
|
|
NM_000162.5(GCK):c.175C>T (p.Pro59Ser)
|
rs193922287
|
|
NM_000162.5(GCK):c.253A>T (p.Arg85Trp)
|
rs193922290
|
|
NM_000162.5(GCK):c.304A>T (p.Lys102Ter)
|
rs193922291
|
|
NM_000162.5(GCK):c.322T>G (p.Tyr108Asp)
|
rs193922292
|
|
NM_000162.5(GCK):c.393del (p.Asp132fs)
|
rs193922295
|
|
NM_000162.5(GCK):c.449T>C (p.Phe150Ser)
|
rs193922297
|
|
NM_000162.5(GCK):c.463A>G (p.Arg155Gly)
|
rs193922301
|
|
NM_000162.5(GCK):c.483G>A (p.Lys161=)
|
rs193922302
|
|
NM_000162.5(GCK):c.509G>T (p.Gly170Val)
|
rs193922303
|
|
NM_000162.5(GCK):c.509_517dup (p.Lys172_Ala173insGlyPheLys)
|
|
|
NM_000162.5(GCK):c.527C>G (p.Ala176Gly)
|
rs193922304
|
|
NM_000162.5(GCK):c.532G>A (p.Gly178Arg)
|
rs193922305
|
|
NM_000162.5(GCK):c.542T>C (p.Val181Ala)
|
rs193922306
|
|
NM_000162.5(GCK):c.563C>T (p.Ala188Val)
|
rs193922307
|
|
NM_000162.5(GCK):c.57C>G (p.Ile19Met)
|
rs193922308
|
|
NM_000162.5(GCK):c.587A>G (p.Glu196Gly)
|
rs193922309
|
|
NM_000162.5(GCK):c.604A>G (p.Met202Val)
|
rs193922310
|
|
NM_000162.5(GCK):c.615C>G (p.Asp205Glu)
|
rs193922312
|
|
NM_000162.5(GCK):c.629T>C (p.Met210Thr)
|
rs80356654
|
|
NM_000162.5(GCK):c.630G>T (p.Met210Ile)
|
rs193922313
|
|
NM_000162.5(GCK):c.635_637del (p.Ser212del)
|
rs193922314
|
|
NM_000162.5(GCK):c.658T>C (p.Cys220Arg)
|
rs193922315
|
|
NM_000162.5(GCK):c.659G>A (p.Cys220Tyr)
|
rs193922316
|
|
NM_000162.5(GCK):c.677T>C (p.Val226Ala)
|
rs193922319
|
|
NM_000162.5(GCK):c.679+1del
|
rs193922320
|
|
NM_000162.5(GCK):c.694G>A (p.Ala232Thr)
|
rs193922322
|
|
NM_000162.5(GCK):c.704T>C (p.Met235Thr)
|
rs193922323
|
|
NM_000162.5(GCK):c.736G>A (p.Gly246Arg)
|
rs2096275721
|
|
NM_000162.5(GCK):c.74T>G (p.Leu25Arg)
|
rs193922325
|
|
NM_000162.5(GCK):c.752T>C (p.Met251Thr)
|
rs193922326
|
|
NM_000162.5(GCK):c.758T>C (p.Val253Ala)
|
rs193921400
|
|
NM_000162.5(GCK):c.758T>G (p.Val253Gly)
|
rs193921400
|
|
NM_000162.5(GCK):c.760A>C (p.Asn254His)
|
rs193922327
|
|
NM_000162.5(GCK):c.768G>C (p.Glu256Asp)
|
rs193922328
|
|
NM_000162.5(GCK):c.76C>T (p.Gln26Ter)
|
rs193922329
|
|
NM_000162.5(GCK):c.779T>C (p.Phe260Ser)
|
rs193922330
|
|
NM_000162.5(GCK):c.812T>C (p.Leu271Pro)
|
rs193922332
|
|
NM_000162.5(GCK):c.833A>T (p.Asp278Val)
|
rs193922333
|
|
NM_000162.5(GCK):c.863+1G>A
|
rs1376796469
|
|
NM_000162.5(GCK):c.907C>T (p.Arg303Trp)
|
rs193922336
|
|
NM_000162.5(GCK):c.917T>C (p.Leu306Pro)
|
rs193922337
|
|
NM_000162.5(GCK):c.947T>A (p.Phe316Tyr)
|
rs193922339
|
|
NM_000169.3(GLA):c.1000-10G>A
|
rs869312203
|
|
NM_000169.3(GLA):c.1045T>C (p.Trp349Arg)
|
rs1928137126
|
|
NM_000169.3(GLA):c.1057_1058del (p.Met353fs)
|
rs886044829
|
|
NM_000169.3(GLA):c.1062_1076del (p.Asn355_Ile359del)
|
rs1569302697
|
|
NM_000169.3(GLA):c.1072G>T (p.Glu358Ter)
|
rs797044774
|
|
NM_000169.3(GLA):c.1078G>C (p.Gly360Arg)
|
rs782598150
|
|
NM_000169.3(GLA):c.1125_1128dup (p.Ala377fs)
|
rs1928125824
|
|
NM_000169.3(GLA):c.1139del (p.Pro380fs)
|
rs2147470791
|
|
NM_000169.3(GLA):c.1168G>A (p.Val390Met)
|
|
|
NM_000169.3(GLA):c.119C>T (p.Pro40Leu)
|
rs398123199
|
|
NM_000169.3(GLA):c.1201dup (p.Ser401fs)
|
rs1928120091
|
|
NM_000169.3(GLA):c.1229C>A (p.Thr410Lys)
|
rs730880442
|
|
NM_000169.3(GLA):c.1285del (p.Leu429fs)
|
rs1555984717
|
|
NM_000169.3(GLA):c.128del (p.Gly43fs)
|
rs797044500
|
|
NM_000169.3(GLA):c.153G>A (p.Met51Ile)
|
rs869312255
|
|
NM_000169.3(GLA):c.153G>T (p.Met51Ile)
|
rs869312255
|
|
NM_000169.3(GLA):c.154T>G (p.Cys52Gly)
|
rs1057521047
|
|
NM_000169.3(GLA):c.154dup (p.Cys52fs)
|
|
|
NM_000169.3(GLA):c.172del (p.Glu58fs)
|
rs869312261
|
|
NM_000169.3(GLA):c.266T>G (p.Leu89Arg)
|
rs1569304886
|
|
NM_000169.3(GLA):c.274G>T (p.Asp92Tyr)
|
rs886041315
|
|
NM_000169.3(GLA):c.275A>G (p.Asp92Gly)
|
rs1928406948
|
|
NM_000169.3(GLA):c.281G>T (p.Cys94Phe)
|
rs113173389
|
|
NM_000169.3(GLA):c.370-2A>C
|
rs730880444
|
|
NM_000169.3(GLA):c.3G>A (p.Met1Ile)
|
rs2147487910
|
|
NM_000169.3(GLA):c.400T>G (p.Tyr134Asp)
|
rs727503951
|
|
NM_000169.3(GLA):c.412G>A (p.Gly138Arg)
|
rs1928326524
|
|
NM_000169.3(GLA):c.41T>C (p.Leu14Pro)
|
rs730880455
|
|
NM_000169.3(GLA):c.484del (p.Trp162fs)
|
rs1928321045
|
|
NM_000169.3(GLA):c.500T>C (p.Leu167Pro)
|
rs1928319806
|
|
NM_000169.3(GLA):c.550T>G (p.Tyr184Asp)
|
rs1928287649
|
|
NM_000169.3(GLA):c.56T>C (p.Leu19Pro)
|
rs1928592578
|
|
NM_000169.3(GLA):c.59_72dup (p.Asp25fs)
|
rs1555987175
|
|
NM_000169.3(GLA):c.614C>T (p.Pro205Leu)
|
rs886044879
|
|
NM_000169.3(GLA):c.620_630delinsCACT (p.Tyr207fs)
|
rs1928279286
|
|
NM_000169.3(GLA):c.688G>A (p.Ala230Thr)
|
rs1928195468
|
|
NM_000169.3(GLA):c.770C>T (p.Ala257Val)
|
rs1569303218
|
|
NM_000169.3(GLA):c.800T>G (p.Met267Arg)
|
rs869312408
|
|
NM_000169.3(GLA):c.801+1G>C
|
rs868923658
|
|
NM_000169.3(GLA):c.802-2A>T
|
rs797044499
|
|
NM_000169.3(GLA):c.824_825del (p.Leu275fs)
|
rs1928173731
|
|
NM_000169.3(GLA):c.833dup (p.Asn278fs)
|
rs1928172876
|
|
NM_000169.3(GLA):c.848dup (p.Met284fs)
|
rs1555985002
|
|
NM_000169.3(GLA):c.863del (p.Ala288fs)
|
rs1569303030
|
|
NM_000169.3(GLA):c.874G>C (p.Ala292Pro)
|
rs111812846
|
|
NM_000169.3(GLA):c.902dup (p.His302fs)
|
rs1928166458
|
|
NM_000169.3(GLA):c.92C>T (p.Ala31Val)
|
rs869312448
|
|
NM_000169.3(GLA):c.959_962del (p.Asn320fs)
|
rs398123225
|
|
NM_000169.3(GLA):c.961C>G (p.Gln321Glu)
|
rs730880439
|
|
NM_000169.3(GLA):c.982G>C (p.Gly328Arg)
|
rs104894832
|
|
NM_000169.3(GLA):c.983G>A (p.Gly328Glu)
|
|
|
NM_000169.3(GLA):c.988del (p.Gln330fs)
|
rs1928157897
|
|
NM_000170.3(GLDC):c.2182G>A (p.Gly728Arg)
|
rs386833542
|
|
NM_000170.3(GLDC):c.2423_2426dup (p.Ile810fs)
|
rs755313904
|
|
NM_000170.3(GLDC):c.256-2A>G
|
|
|
NM_000170.3(GLDC):c.437C>A (p.Thr146Lys)
|
rs376578742
|
|
NM_000170.3(GLDC):c.450C>G (p.Asn150Lys)
|
|
|
NM_000175.5(GPI):c.1269+1G>A
|
|
|
NM_000178.3(GSS):c.1113_1132del20
|
rs2147120336
|
|
NM_000178.4(GSS):c.1139_1144del (p.Val380_Gln381del)
|
rs770455024
|
|
NM_000178.4(GSS):c.1192dup (p.Met398fs)
|
|
|
NM_000178.4(GSS):c.656A>C (p.Asp219Ala)
|
|
|
NM_000179.2(MSH6):c.3647delG
|
rs1064795629
|
|
NM_000179.3(MSH6):c.1108_1109del (p.Leu370fs)
|
rs786204252
|
|
NM_000179.3(MSH6):c.1128_1132del (p.Arg378_Arg379insTer)
|
rs1114167801
|
|
NM_000179.3(MSH6):c.1255_1268del (p.Gln419fs)
|
rs876661251
|
|
NM_000179.3(MSH6):c.1266dup (p.Leu423fs)
|
|
|
NM_000179.3(MSH6):c.1352del (p.Phe451fs)
|
rs869312769
|
|
NM_000179.3(MSH6):c.1357A>T (p.Lys453Ter)
|
rs1669323917
|
|
NM_000179.3(MSH6):c.1572C>G (p.Tyr524Ter)
|
rs587779215
|
|
NM_000179.3(MSH6):c.1610_1613del (p.Lys537fs)
|
rs863224829
|
|
NM_000179.3(MSH6):c.1754T>C (p.Leu585Pro)
|
rs587779220
|
|
NM_000179.3(MSH6):c.1772del (p.Pro591fs)
|
rs786202108
|
|
NM_000179.3(MSH6):c.1805C>A (p.Ser602Ter)
|
rs730881816
|
|
NM_000179.3(MSH6):c.1836dup (p.Leu613fs)
|
rs1669381138
|
|
NM_000179.3(MSH6):c.1912del (p.Glu639fs)
|
rs1553413294
|
|
NM_000179.3(MSH6):c.1933del (p.Glu645fs)
|
rs1558663559
|
|
NM_000179.3(MSH6):c.1969C>T (p.Gln657Ter)
|
rs1114167709
|
|
NM_000179.3(MSH6):c.1991_1992del (p.Thr663_Ser664insTer)
|
rs2104380945
|
|
NM_000179.3(MSH6):c.1993G>T (p.Glu665Ter)
|
rs1333555322
|
|
NM_000179.3(MSH6):c.2056_2060delinsCTTCTACCTCAAAAA (p.Gly686fs)
|
rs878853711
|
|
NM_000179.3(MSH6):c.2092C>T (p.Gln698Ter)
|
rs63750832
|
|
NM_000179.3(MSH6):c.2124_2126dup (p.Tyr709Ter)
|
rs1558664335
|
|
NM_000179.3(MSH6):c.2260dup (p.Thr754fs)
|
rs1553413640
|
|
NM_000179.3(MSH6):c.2269_2270del (p.Thr757fs)
|
rs876661025
|
|
NM_000179.3(MSH6):c.2419del (p.Glu807fs)
|
rs1669460814
|
|
NM_000179.3(MSH6):c.2437_2440delinsTT (p.Lys813fs)
|
|
|
NM_000179.3(MSH6):c.2535dup (p.Glu846Ter)
|
rs587779241
|
|
NM_000179.3(MSH6):c.2566_2572del (p.Ile856fs)
|
rs1669481204
|
|
NM_000179.3(MSH6):c.2602del (p.Met868fs)
|
rs1572727797
|
|
NM_000179.3(MSH6):c.2845C>T (p.Gln949Ter)
|
rs878853724
|
|
NM_000179.3(MSH6):c.2872C>T (p.Gln958Ter)
|
rs1553414236
|
|
NM_000179.3(MSH6):c.2938G>T (p.Glu980Ter)
|
rs2104431856
|
|
NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter)
|
rs63750258
|
|
NM_000179.3(MSH6):c.3037AAG[1] (p.Lys1014del)
|
rs267608073
|
|
NM_000179.3(MSH6):c.3108_3109del (p.Phe1037fs)
|
rs1553414519
|
|
NM_000179.3(MSH6):c.3163dup (p.Ala1055fs)
|
rs878853729
|
|
NM_000179.3(MSH6):c.3173-1G>C
|
rs397515875
|
|
NM_000179.3(MSH6):c.3253del (p.Thr1085fs)
|
rs1060502891
|
|
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3416dup (p.Lys1140fs)
|
rs587781544
|
|
NM_000179.3(MSH6):c.3463C>T (p.Gln1155Ter)
|
rs1553332166
|
|
NM_000179.3(MSH6):c.3491dup (p.Cys1165fs)
|
rs876661073
|
|
NM_000179.3(MSH6):c.3528_3532del (p.Leu1177fs)
|
rs863225408
|
|
NM_000179.3(MSH6):c.3543_3546del (p.Asp1181fs)
|
rs1553332297
|
|
NM_000179.3(MSH6):c.3556+1del
|
rs1064793489
|
|
NM_000179.3(MSH6):c.3574del (p.Val1192fs)
|
rs1553332671
|
|
NM_000179.3(MSH6):c.3577G>A (p.Glu1193Lys)
|
rs63751328
|
|
NM_000179.3(MSH6):c.3646+1G>T
|
rs1553332772
|
|
NM_000179.3(MSH6):c.3699_3702dup (p.Leu1235fs)
|
rs193922343
|
|
NM_000179.3(MSH6):c.3724_3726del (p.Arg1242del)
|
rs63749942
|
|
NM_000179.3(MSH6):c.3725G>A (p.Arg1242His)
|
rs63750119
|
|
NM_000179.3(MSH6):c.3732_3735dup (p.Ser1246fs)
|
rs1553333072
|
|
NM_000179.3(MSH6):c.3733_3739dup (p.Thr1247fs)
|
rs1670054668
|
|
NM_000179.3(MSH6):c.3744_3773del (p.His1248_Ser1257del)
|
rs863225412
|
|
NM_000179.3(MSH6):c.3767_3771dup (p.Gln1258fs)
|
|
|
NM_000179.3(MSH6):c.3802-1G>T
|
|
|
NM_000179.3(MSH6):c.3814_3827dup (p.Asp1277fs)
|
rs1558393070
|
|
NM_000179.3(MSH6):c.3841_3847dup (p.Ile1283fs)
|
rs1114167720
|
|
NM_000179.3(MSH6):c.3850dup (p.Thr1284fs)
|
rs1553333421
|
|
NM_000179.3(MSH6):c.3920_3923dup (p.Pro1309fs)
|
rs1572747278
|
|
NM_000179.3(MSH6):c.3922_3944dup (p.Lys1315fs)
|
rs1553333599
|
|
NM_000179.3(MSH6):c.3936_3951del (p.Ile1313fs)
|
rs1553333635
|
|
NM_000179.3(MSH6):c.3961A>T (p.Arg1321Ter)
|
rs41295278
|
|
NM_000179.3(MSH6):c.4001+1G>C
|
rs1114167729
|
|
NM_000179.3(MSH6):c.4002-6_4002-1del
|
rs1670205307
|
|
NM_000179.3(MSH6):c.517_520del (p.Leu173fs)
|
rs1553411419
|
|
NM_000179.3(MSH6):c.[3601C>G;3724C>A]
|
|
|
NM_000181.4(GUSB):c.1192C>T (p.Arg398Cys)
|
|
|
NM_000181.4(GUSB):c.406G>A (p.Gly136Arg)
|
|
|
NM_000181.4(GUSB):c.724+1G>T
|
rs2116026958
|
|
NM_000182.5(HADHA):c.1059del (p.Lys353fs)
|
rs1227493628
|
|
NM_000182.5(HADHA):c.1633_1636delinsGGAAGGTCCTGG (p.Phe545fs)
|
|
|
NM_000182.5(HADHA):c.1759_1760del (p.Leu587fs)
|
|
|
NM_000182.5(HADHA):c.180+1G>A
|
rs786205088
|
|
NM_000182.5(HADHA):c.1811del (p.Gly604fs)
|
rs747985669
|
|
NM_000182.5(HADHA):c.1844del (p.Asn615fs)
|
rs1669575714
|
|
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs)
|
rs749848370
|
|
NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs)
|
rs868816467
|
|
NM_000182.5(HADHA):c.72del (p.Gly23_Tyr24insTer)
|
rs1553316176
|
|
NM_000183.3(HADHB):c.811+1G>A
|
|
|
NM_000186.4(CFH):c.3565C>T (p.Leu1189Phe)
|
rs2149118712
|
|
NM_000191.3(HMGCL):c.225C>G (p.Ser75Arg)
|
|
|
NM_000191.3(HMGCL):c.230del (p.Val77fs)
|
rs1638632303
|
|
NM_000195.4(HPS1):c.1602_1605delCCTA
|
|
|
NM_000195.5(HPS1):c.1777del (p.Leu593fs)
|
|
|
NM_000195.5(HPS1):c.1932del (p.Tyr645fs)
|
rs1239621485
|
|
NM_000198.4(HSD3B2):c.376G>T (p.Glu126Ter)
|
|
|
NM_000198.4(HSD3B2):c.849del (p.Arg282_Trp283insTer)
|
|
|
NM_000199.5(SGSH):c.1000dup (p.Ala334fs)
|
|
|
NM_000199.5(SGSH):c.1153del (p.Arg385fs)
|
rs2041615714
|
|
NM_000199.5(SGSH):c.693_705del (p.Ala232fs)
|
rs2041772144
|
|
NM_000202.8(IDS):c.1269del (p.Val424fs)
|
|
|
NM_000202.8(IDS):c.1400C>G (p.Pro467Arg)
|
rs1602725808
|
|
NM_000202.8(IDS):c.1439C>T (p.Pro480Leu)
|
rs2123994251
|
|
NM_000202.8(IDS):c.143G>C (p.Arg48Pro)
|
rs1569560528
|
|
NM_000202.8(IDS):c.419-1G>A
|
rs1557339927
|
|
NM_000203.5(IDUA):c.1269C>A (p.Ser423Arg)
|
rs931627770
|
|
NM_000203.5(IDUA):c.1282C>T (p.Gln428Ter)
|
|
|
NM_000203.5(IDUA):c.1395del (p.Gly466fs)
|
rs1386109118
|
|
NM_000203.5(IDUA):c.1475G>C (p.Arg492Pro)
|
rs121965026
|
|
NM_000203.5(IDUA):c.1695_1705del (p.Leu566fs)
|
rs1220371654
|
|
NM_000203.5(IDUA):c.1827_1828+4delinsTGTGT
|
|
|
NM_000203.5(IDUA):c.1858G>T (p.Val620Phe)
|
rs2153023278
|
|
NM_000203.5(IDUA):c.1893del (p.Phe632fs)
|
rs1553917754
|
|
NM_000203.5(IDUA):c.1907_1917del (p.Val636fs)
|
rs1715314710
|
|
NM_000203.5(IDUA):c.306del (p.Thr103fs)
|
rs1461124319
|
|
NM_000203.5(IDUA):c.326_331del (p.Tyr109_Asn110del)
|
|
|
NM_000203.5(IDUA):c.3G>A (p.Met1Ile)
|
rs1553914740
|
|
NM_000203.5(IDUA):c.457A>T (p.Lys153Ter)
|
rs1715035049
|
|
NM_000203.5(IDUA):c.512_513del (p.His171fs)
|
rs1715069355
|
|
NM_000203.5(IDUA):c.60_61delinsA (p.Pro22fs)
|
rs1553914762
|
|
NM_000203.5(IDUA):c.65del (p.Pro22fs)
|
rs1560531755
|
|
NM_000204.5(CFI):c.658+1G>A
|
|
|
NM_000206.3(IL2RG):c.175G>T (p.Glu59Ter)
|
rs2092262517
|
|
NM_000206.3(IL2RG):c.181C>T (p.Gln61Ter)
|
rs1569480082
|
|
NM_000206.3(IL2RG):c.270-1G>T
|
rs193922346
|
|
NM_000206.3(IL2RG):c.314A>G (p.Tyr105Cys)
|
rs193922347
|
|
NM_000206.3(IL2RG):c.359_360insT (p.Lys120fs)
|
rs2092261347
|
|
NM_000206.3(IL2RG):c.43C>T (p.Gln15Ter)
|
rs1057517747
|
|
NM_000206.3(IL2RG):c.455T>C (p.Val152Ala)
|
rs193922348
|
|
NM_000206.3(IL2RG):c.465G>A (p.Trp155Ter)
|
rs1569479994
|
|
NM_000206.3(IL2RG):c.662T>C (p.Phe221Ser)
|
rs193922349
|
|
NM_000206.3(IL2RG):c.710G>A (p.Trp237Ter)
|
rs193922350
|
|
NM_000206.3(IL2RG):c.758-2A>G
|
rs2147747509
|
|
NM_000206.3(IL2RG):c.982C>T (p.Arg328Ter)
|
rs1064793347
|
|
NM_000207.3(INS):c.71C>T (p.Ala24Val)
|
rs80356663
|
|
NM_000209.4(PDX1):c.217dup (p.Leu73fs)
|
rs1445970498
|
|
NM_000209.4(PDX1):c.442C>G (p.Arg148Gly)
|
rs193922355
|
|
NM_000209.4(PDX1):c.488A>G (p.Lys163Arg)
|
|
|
NM_000209.4(PDX1):c.571A>C (p.Lys191Gln)
|
rs193922356
|
|
NM_000215.4(JAK3):c.1744C>T (p.Arg582Trp)
|
rs193922361
|
|
NM_000215.4(JAK3):c.1915-11G>A
|
|
|
NM_000215.4(JAK3):c.2683_2704del (p.Arg895fs)
|
rs1555743321
|
|
NM_000215.4(JAK3):c.2759_2760del (p.Arg920fs)
|
|
|
NM_000215.4(JAK3):c.678_679del (p.Cys227fs)
|
rs193922364
|
|
NM_000217.3(KCNA1):c.785T>C (p.Ile262Thr)
|
rs2137673584
|
|
NM_000218.3(KCNQ1):c.1515-2_1515-1del
|
rs1564886323
|
|
NM_000218.3(KCNQ1):c.1697C>T (p.Ser566Phe)
|
rs199472804
|
|
NM_000218.3(KCNQ1):c.1810dup (p.Gln604fs)
|
rs1848361555
|
|
NM_000218.3(KCNQ1):c.387-5T>A
|
rs794728549
|
|
NM_000218.3(KCNQ1):c.724G>T (p.Asp242Tyr)
|
rs199472712
|
|
NM_000227.6(LAMA3):c.69del (p.Gln24fs)
|
|
|
NM_000228.3(LAMB3):c.1486-1G>A
|
rs1418276828
|
|
NM_000228.3(LAMB3):c.622del (p.Ile208fs)
|
rs768303931
|
|
NM_000228.3(LAMB3):c.877T>A (p.Cys293Ser)
|
|
|
NM_000231.3(SGCG):c.386-2A>G
|
rs886042757
|
|
NM_000232.5(SGCB):c.-10_22dup (p.Ala8fs)
|
rs1553940963
|
|
NM_000233.4(LHCGR):c.1732G>T (p.Asp578Tyr)
|
rs121912532
|
|
NM_000235.4(LIPA):c.283T>A (p.Trp95Arg)
|
rs1554866097
|
|
NM_000235.4(LIPA):c.600G>A (p.Leu200=)
|
rs1172318248
|
|
NM_000235.4(LIPA):c.931G>A (p.Gly311Arg)
|
rs1589548972
|
|
NM_000238.4(KCNH2):c.1280A>C (p.Tyr427Ser)
|
rs199472897
|
|
NM_000238.4(KCNH2):c.2003C>A (p.Ser668Ter)
|
rs749211387
|
|
NM_000238.4(KCNH2):c.2162C>T (p.Pro721Leu)
|
rs199472986
|
|
NM_000238.4(KCNH2):c.2398+5G>T
|
rs1554425149
|
|
NM_000238.4(KCNH2):c.2510A>G (p.Asp837Gly)
|
rs199473004
|
|
NM_000238.4(KCNH2):c.2766del (p.Pro923fs)
|
rs1554424403
|
|
NM_000238.4(KCNH2):c.2959dup (p.Leu987fs)
|
rs2116931511
|
|
NM_000238.4(KCNH2):c.3092del (p.Gly1031fs)
|
rs1800940404
|
|
NM_000238.4(KCNH2):c.3099_3112del (p.Pro1034fs)
|
rs1554424044
|
|
NM_000238.4(KCNH2):c.3100_3107delinsGGC (p.Pro1034fs)
|
rs1800937691
|
|
NM_000238.4(KCNH2):c.98A>C (p.Asn33Thr)
|
rs199473487
|
|
NM_000243.3(MEFV):c.1506_1507dup (p.Ser503fs)
|
rs751375381
|
|
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del)
|
rs104895093
|
|
NM_000243.3(MEFV):c.761_764dup (p.Asn256fs)
|
rs104895138
|
|
NM_000249.4(MLH1):c.1011dup (p.Asn338fs)
|
rs63750677
|
|
NM_000249.4(MLH1):c.1032del (p.Phe344fs)
|
rs1553648225
|
|
NM_000249.4(MLH1):c.1038+1G>A
|
rs267607816
|
|
NM_000249.4(MLH1):c.1038G>A (p.Gln346=)
|
rs63751715
|
|
NM_000249.4(MLH1):c.1322del (p.Ala441fs)
|
rs2125885422
|
|
NM_000249.4(MLH1):c.1409+1G>A
|
rs267607825
|
|
NM_000249.4(MLH1):c.1409+1G>T
|
rs267607825
|
|
NM_000249.4(MLH1):c.1410-2_1410-1delinsCC
|
rs1559558071
|
|
NM_000249.4(MLH1):c.1550del (p.Gly517fs)
|
rs2125903643
|
|
NM_000249.4(MLH1):c.1558+1G>A
|
rs267607832
|
|
NM_000249.4(MLH1):c.156del (p.Glu53fs)
|
rs63750028
|
|
NM_000249.4(MLH1):c.1597del (p.Cys533fs)
|
rs1559575107
|
|
NM_000249.4(MLH1):c.1731+1G>T
|
rs267607853
|
|
NM_000249.4(MLH1):c.174_175delinsT (p.Leu58fs)
|
rs876660860
|
|
NM_000249.4(MLH1):c.1803del (p.Asp601fs)
|
rs2125984944
|
|
NM_000249.4(MLH1):c.1832TTG[1] (p.Val612del)
|
rs63750486
|
|
NM_000249.4(MLH1):c.187G>A (p.Asp63Asn)
|
rs63750850
|
|
NM_000249.4(MLH1):c.1918C>T (p.Pro640Ser)
|
rs63749792
|
|
NM_000249.4(MLH1):c.1989+1G>T
|
rs267607879
|
|
NM_000249.4(MLH1):c.2038T>C (p.Cys680Arg)
|
rs63750809
|
|
NM_000249.4(MLH1):c.2054C>T (p.Ser685Phe)
|
rs1064796101
|
|
NM_000249.4(MLH1):c.2084C>A (p.Ser695Ter)
|
rs63749995
|
|
NM_000249.4(MLH1):c.299G>C (p.Arg100Pro)
|
rs63750266
|
|
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys)
|
rs63750453
|
|
NM_000249.4(MLH1):c.347del (p.Thr116fs)
|
rs876661159
|
|
NM_000249.4(MLH1):c.3G>A (p.Met1Ile)
|
rs72481822
|
|
NM_000249.4(MLH1):c.441dup (p.Thr148fs)
|
rs2125773395
|
|
NM_000249.4(MLH1):c.454-1G>C
|
rs193922370
|
|
NM_000249.4(MLH1):c.469dup (p.Tyr157fs)
|
rs63751101
|
|
NM_000249.4(MLH1):c.545+4_545+5del
|
|
|
NM_000249.4(MLH1):c.546-1G>A
|
rs587779022
|
|
NM_000249.4(MLH1):c.546-2A>T
|
rs267607759
|
|
NM_000249.4(MLH1):c.860del (p.Asn287fs)
|
rs63750034
|
|
NM_000249.4(MLH1):c.927dup (p.Thr310fs)
|
rs1553647995
|
|
NM_000249.4(MLH1):c.960_964dup (p.Ile322fs)
|
rs1553648047
|
|
NM_000249.4(MLH1):c.971dup (p.Arg325fs)
|
rs587781554
|
|
NM_000249.4(MLH1):c.980_983dup (p.His329fs)
|
rs1559544297
|
|
NM_000249.4(MLH1):c.984_997del (p.His329fs)
|
rs587782265
|
|
NM_000251.2(MSH2):c.1077-66_1146del
|
rs193922372
|
|
NM_000251.3(MSH2):c.1023del (p.Val342fs)
|
rs864622340
|
|
NM_000251.3(MSH2):c.1224T>G (p.Tyr408Ter)
|
rs63750132
|
|
NM_000251.3(MSH2):c.1251_1268delinsAGTT (p.Ile418fs)
|
rs863225388
|
|
NM_000251.3(MSH2):c.1288A>T (p.Lys430Ter)
|
rs63751646
|
|
NM_000251.3(MSH2):c.1384C>T (p.Gln462Ter)
|
rs876657701
|
|
NM_000251.3(MSH2):c.1390G>T (p.Glu464Ter)
|
rs876658223
|
|
NM_000251.3(MSH2):c.1393_1420del (p.Asn465fs)
|
rs2104082965
|
|
NM_000251.3(MSH2):c.1401del (p.Glu467fs)
|
rs1553365711
|
|
NM_000251.3(MSH2):c.1442_1445dup (p.Arg482fs)
|
rs63750930
|
|
NM_000251.3(MSH2):c.1510+1G>A
|
rs1114167852
|
|
NM_000251.3(MSH2):c.1511-1G>A
|
rs267607964
|
|
NM_000251.3(MSH2):c.1529_1531delinsT (p.Gln510fs)
|
rs2104172666
|
|
NM_000251.3(MSH2):c.1543del (p.Ser515fs)
|
|
|
NM_000251.3(MSH2):c.1571G>C (p.Arg524Pro)
|
rs63751207
|
|
NM_000251.3(MSH2):c.1633C>T (p.Gln545Ter)
|
rs1666904987
|
|
NM_000251.3(MSH2):c.1661+2T>C
|
rs1553366680
|
|
NM_000251.3(MSH2):c.1741del (p.Ile581fs)
|
rs63750141
|
|
NM_000251.3(MSH2):c.1838dup (p.Asn613fs)
|
rs1114167815
|
|
NM_000251.3(MSH2):c.1984C>T (p.Gln662Ter)
|
rs786204321
|
|
NM_000251.3(MSH2):c.2006-2A>T
|
rs267607991
|
|
NM_000251.3(MSH2):c.211G>C (p.Gly71Arg)
|
rs587782659
|
|
NM_000251.3(MSH2):c.2335dup (p.Met779fs)
|
rs63750149
|
|
NM_000251.3(MSH2):c.2425G>T (p.Glu809Ter)
|
rs202145681
|
|
NM_000251.3(MSH2):c.2459-1G>C
|
rs1060501991
|
|
NM_000251.3(MSH2):c.2466T>A (p.Cys822Ter)
|
rs63749846
|
|
NM_000251.3(MSH2):c.2485del (p.His829fs)
|
rs63751117
|
|
NM_000251.3(MSH2):c.301_306del (p.Glu101_Val102del)
|
rs587779157
|
|
NM_000251.3(MSH2):c.340G>T (p.Glu114Ter)
|
rs878853815
|
|
NM_000251.3(MSH2):c.430del (p.Ser144fs)
|
rs1672660841
|
|
NM_000251.3(MSH2):c.561_569del (p.Glu188_Leu190del)
|
rs63750088
|
|
NM_000251.3(MSH2):c.652C>T (p.Gln218Ter)
|
rs587779170
|
|
NM_000251.3(MSH2):c.703_709del (p.Lys235fs)
|
rs2104102733
|
|
NM_000251.3(MSH2):c.738del (p.Gly247fs)
|
rs2104106456
|
|
NM_000251.3(MSH2):c.748G>T (p.Gly250Ter)
|
rs864622183
|
|
NM_000251.3(MSH2):c.75del (p.Met26fs)
|
rs1553348760
|
|
NM_000251.3(MSH2):c.762_780del (p.Asn254fs)
|
rs2104108772
|
|
NM_000251.3(MSH2):c.792+1del
|
rs1064794155
|
|
NM_000251.3(MSH2):c.845_848del (p.Asp282fs)
|
rs1553352462
|
|
NM_000251.3(MSH2):c.860dup (p.Gln288fs)
|
rs193922375
|
|
NM_000251.3(MSH2):c.866_867dup (p.Glu290fs)
|
rs1672951706
|
|
NM_000251.3(MSH2):c.928del (p.Asn311fs)
|
rs1064793179
|
|
NM_000251.3(MSH2):c.942+3A>G
|
rs193922376
|
|
NM_000251.3(MSH2):c.943-2A>G
|
rs587779198
|
|
NM_000251.3(MSH2):c.98_99del (p.Thr33fs)
|
rs1672240193
|
|
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg)
|
rs398123274
|
|
NM_000255.4(MMUT):c.1073T>C (p.Leu358Pro)
|
|
|
NM_000255.4(MMUT):c.1078G>T (p.Glu360Ter)
|
|
|
NM_000255.4(MMUT):c.1295A>C (p.Glu432Ala)
|
rs1297307718
|
|
NM_000255.4(MMUT):c.1847G>A (p.Arg616His)
|
rs1369724342
|
|
NM_000255.4(MMUT):c.1946del (p.Pro649fs)
|
rs1554158754
|
|
NM_000255.4(MMUT):c.2033A>G (p.His678Arg)
|
|
|
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp)
|
rs397515905
|
|
NM_000256.3(MYBPC3):c.1574_1580del (p.Tyr525fs)
|
rs2142860924
|
|
NM_000256.3(MYBPC3):c.1790+1G>A
|
rs1555122053
|
|
NM_000256.3(MYBPC3):c.2013_2016delinsGG (p.Pro672fs)
|
rs397515943
|
|
NM_000256.3(MYBPC3):c.3234G>A (p.Trp1078Ter)
|
rs866966651
|
|
NM_000256.3(MYBPC3):c.3330+2T>A
|
rs387906397
|
|
NM_000257.4(MYH7):c.1477A>G (p.Met493Val)
|
rs730880875
|
|
NM_000257.4(MYH7):c.2105T>A (p.Ile702Asn)
|
rs397516132
|
|
NM_000257.4(MYH7):c.2631G>C (p.Met877Ile)
|
rs1060505018
|
|
NM_000257.4(MYH7):c.4402G>A (p.Glu1468Lys)
|
rs876657884
|
|
NM_000257.4(MYH7):c.602T>C (p.Ile201Thr)
|
rs397516258
|
|
NM_000260.4(MYO7A):c.3546C>A (p.Asn1182Lys)
|
rs1555090294
|
|
NM_000260.4(MYO7A):c.3728dup (p.Pro1244fs)
|
rs397516304
|
|
NM_000263.4(NAGLU):c.2113G>A (p.Glu705Lys)
|
rs1364203992
|
|
NM_000263.4(NAGLU):c.229_236del (p.Val77fs)
|
rs2143076634
|
|
NM_000263.4(NAGLU):c.461T>G (p.Ile154Arg)
|
rs770684838
|
|
NM_000263.4(NAGLU):c.680A>C (p.His227Pro)
|
rs747155746
|
|
NM_000264.5(PTCH1):c.2198C>G (p.Ser733Ter)
|
rs1311804361
|
|
NM_000264.5(PTCH1):c.2833C>T (p.Arg945Ter)
|
rs1064794260
|
|
NM_000264.5(PTCH1):c.3394T>C (p.Ser1132Pro)
|
rs878853856
|
|
NM_000268.4(NF2):c.115-1G>A
|
rs2065657938
|
|
NM_000270.4(PNP):c.601G>T (p.Glu201Ter)
|
|
|
NM_000271.5(NPC1):c.1843C>T (p.Arg615Cys)
|
rs745777805
|
|
NM_000271.5(NPC1):c.2072C>A (p.Pro691Gln)
|
rs1555634422
|
|
NM_000271.5(NPC1):c.2670C>G (p.Tyr890Ter)
|
rs780592540
|
|
NM_000271.5(NPC1):c.2975G>C (p.Gly992Ala)
|
|
|
NM_000271.5(NPC1):c.3243_3755-94del
|
|
|
NM_000271.5(NPC1):c.3322dup (p.Ala1108fs)
|
rs2145351244
|
|
NM_000271.5(NPC1):c.337T>C (p.Cys113Arg)
|
rs120074136
|
|
NM_000271.5(NPC1):c.3410dup (p.Asn1137fs)
|
rs768299417
|
|
NM_000271.5(NPC1):c.3485G>C (p.Gly1162Ala)
|
rs1194990534
|
|
NM_000271.5(NPC1):c.3500T>G (p.Phe1167Cys)
|
rs1555632003
|
|
NM_000271.5(NPC1):c.3637T>G (p.Leu1213Val)
|
|
|
NM_000271.5(NPC1):c.3718G>A (p.Gly1240Arg)
|
|
|
NM_000271.5(NPC1):c.464-2A>C
|
rs2145485704
|
|
NM_000271.5(NPC1):c.810CAT[1] (p.Ile271del)
|
rs1243863645
|
|
NM_000271.5(NPC1):c.955+1G>A
|
|
|
NM_000271.5(NPC1):c.99_100del (p.Ala34fs)
|
rs2059233076
|
|
NM_000274.4(OAT):c.461G>T (p.Arg154Leu)
|
rs121965039
|
|
NM_000274.4(OAT):c.881_900+51del
|
rs1951451290
|
|
NM_000275.3(OCA2):c.1911_1914del (p.Phe638fs)
|
|
|
NM_000275.3(OCA2):c.2216T>C (p.Ile739Thr)
|
|
|
NM_000275.3(OCA2):c.2432+1G>A
|
|
|
NM_000275.3(OCA2):c.287A>C (p.Glu96Ala)
|
|
|
NM_000276.4(OCRL):c.1580T>A (p.Val527Asp)
|
|
|
NM_000276.4(OCRL):c.2582-1G>C
|
|
|
NM_000277.3(PAH):c.1099del (p.Leu367fs)
|
rs62506951
|
|
NM_000277.3(PAH):c.125AAG[2] (p.Glu44del)
|
rs199475628
|
|
NM_000277.3(PAH):c.1355dup (p.Ter453ValextTer?)
|
rs199475641
|
|
NM_000277.3(PAH):c.183C>A (p.Asn61Lys)
|
rs199475634
|
|
NM_000277.3(PAH):c.199T>C (p.Ser67Pro)
|
rs5030842
|
|
NM_000277.3(PAH):c.211C>T (p.Arg71Cys)
|
|
|
NM_000277.3(PAH):c.226G>T (p.Glu76Ter)
|
rs762949770
|
|
NM_000277.3(PAH):c.400C>T (p.Gln134Ter)
|
rs199475680
|
|
NM_000277.3(PAH):c.510-2A>G
|
rs1555204750
|
|
NM_000277.3(PAH):c.632C>T (p.Pro211Leu)
|
rs281865443
|
|
NM_000277.3(PAH):c.722G>T (p.Arg241Leu)
|
rs62508730
|
|
NM_000277.3(PAH):c.890G>T (p.Arg297Leu)
|
rs62642939
|
|
NM_000282.4(PCCA):c.1900-1G>A
|
rs2152998142
|
|
NM_000282.4(PCCA):c.317C>A (p.Ala106Glu)
|
|
|
NM_000282.4(PCCA):c.362A>G (p.Tyr121Cys)
|
rs936088423
|
|
NM_000282.4(PCCA):c.645dup (p.Val216fs)
|
|
|
NM_000282.4(PCCA):c.862A>G (p.Arg288Gly)
|
rs121964957
|
|
NM_000284.4(PDHA1):c.1050_1133dup (p.Gln351_Arg378dup)
|
rs1555935486
|
|
NM_000286.3(PEX12):c.445_454del (p.Ser149fs)
|
rs1567730901
|
|
NM_000286.3(PEX12):c.987_988del (p.Phe330fs)
|
rs764657253
|
|
NM_000287.4(PEX6):c.1133G>A (p.Trp378Ter)
|
|
|
NM_000287.4(PEX6):c.1360C>T (p.Gln454Ter)
|
rs1554127491
|
|
NM_000287.4(PEX6):c.2364_2365del
|
rs755716911
|
|
NM_000287.4(PEX6):c.311del (p.Gly104fs)
|
rs61753209
|
|
NM_000287.4(PEX6):c.510dup (p.Gly171fs)
|
rs1491384052
|
|
NM_000287.4(PEX6):c.727C>T (p.Gln243Ter)
|
rs61753215
|
|
NM_000288.4(PEX7):c.188+1G>A
|
rs267608254
|
|
NM_000288.4(PEX7):c.376C>T (p.Gln126Ter)
|
rs2115170536
|
|
NM_000288.4(PEX7):c.418-1G>A
|
rs773406384
|
|
NM_000289.6(PFKM):c.238-3A>G
|
|
|
NM_000292.3(PHKA2):c.3058-1G>A
|
rs751364453
|
|
NM_000293.3(PHKB):c.2623C>T (p.Arg875Ter)
|
|
|
NM_000293.3(PHKB):c.76+1G>C
|
|
|
NM_000294.3(PHKG2):c.925C>T (p.Arg309Trp)
|
|
|
NM_000297.4(PKD2):c.1095-1G>T
|
|
|
NM_000297.4(PKD2):c.1320G>T (p.Arg440Ser)
|
rs886041114
|
|
NM_000302.4(PLOD1):c.1585-2A>G
|
|
|
NM_000303.3(PMM2):c.392del (p.Pro131fs)
|
rs1555449607
|
|
NM_000303.3(PMM2):c.448-1_448del
|
rs1414007551
|
|
NM_000303.3(PMM2):c.451_454del
|
rs1274794195
|
|
NM_000303.3(PMM2):c.527G>T (p.Gly176Val)
|
rs940938678
|
|
NM_000303.3(PMM2):c.566_571delinsGTGGATTTCC (p.Lys189fs)
|
rs2060686245
|
|
NM_000303.3(PMM2):c.640G>C (p.Gly214Arg)
|
|
|
NM_000303.3(PMM2):c.677C>G (p.Thr226Ser)
|
rs80338706
|
|
NM_000303.3(PMM2):c.682G>T (p.Gly228Cys)
|
rs558826439
|
|
NM_000308.4(CTSA):c.112del (p.Leu38fs)
|
rs1241378191
|
|
NM_000310.4(PPT1):c.125G>A (p.Gly42Glu)
|
rs386833631
|
|
NM_000310.4(PPT1):c.249CTT[2] (p.Phe85del)
|
rs386833637
|
|
NM_000310.4(PPT1):c.708_712delinsAGA (p.Pro238fs)
|
|
|
NM_000311.5(PRNP):c.650A>G (p.Gln217Arg)
|
rs74315406
|
|
NM_000314.8(PTEN):c.395G>A (p.Gly132Asp)
|
rs121909241
|
|
NM_000314.8(PTEN):c.423del (p.Arg142fs)
|
rs1859979785
|
|
NM_000314.8(PTEN):c.430A>T (p.Lys144Ter)
|
rs1057520622
|
|
NM_000314.8(PTEN):c.475A>G (p.Arg159Gly)
|
rs786202688
|
|
NM_000314.8(PTEN):c.492+1G>A
|
rs1554898242
|
|
NM_000314.8(PTEN):c.755A>T (p.Asp252Val)
|
rs121909239
|
|
NM_000314.8(PTEN):c.888T>A (p.Cys296Ter)
|
rs1589665853
|
|
NM_000314.8(PTEN):c.967_968dup (p.Asn323fs)
|
rs121913291
|
|
NM_000317.3(PTS):c.146A>G (p.His49Arg)
|
rs750229518
|
|
NM_000317.3(PTS):c.187-2A>G
|
rs2135409169
|
|
NM_000317.3(PTS):c.238A>G (p.Met80Val)
|
rs1057517810
|
|
NM_000317.3(PTS):c.245A>G (p.Glu82Gly)
|
|
|
NM_000318.3(PEX2):c.163G>A (p.Glu55Lys)
|
rs61752119
|
|
NM_000318.3(PEX2):c.352del (p.Glu118fs)
|
|
|
NM_000320.3(QDPR):c.516del (p.Ala175fs)
|
|
|
NM_000321.3(RB1):c.1390-2A>G
|
rs1555286568
|
|
NM_000321.3(RB1):c.1400_1403dup (p.Ser469fs)
|
rs1555286570
|
|
NM_000321.3(RB1):c.1411C>T (p.Gln471Ter)
|
rs1354030520
|
|
NM_000321.3(RB1):c.1419del (p.Phe473fs)
|
rs1555286573
|
|
NM_000321.3(RB1):c.1421+12_1421+32del
|
rs587781256
|
|
NM_000321.3(RB1):c.1421G>T (p.Ser474Ile)
|
rs1555286575
|
|
NM_000321.3(RB1):c.539+1G>A
|
rs1566187856
|
|
NM_000325.6(PITX2):c.208A>T (p.Lys70Ter)
|
rs2110435882
|
|
NM_000326.5(RLBP1):c.451C>T (p.Arg151Trp)
|
|
|
NM_000329.3(RPE65):c.1292A>G (p.Tyr431Cys)
|
rs62636300
|
|
NM_000329.3(RPE65):c.1451G>A (p.Gly484Asp)
|
rs62653015
|
|
NM_000329.3(RPE65):c.246-11A>G
|
rs905365719
|
|
NM_000329.3(RPE65):c.644-2A>G
|
|
|
NM_000335.5(SCN5A):c.1338+2T>A
|
rs786204839
|
|
NM_000335.5(SCN5A):c.2575C>T (p.Gln859Ter)
|
rs794728865
|
|
NM_000335.5(SCN5A):c.2865_2866del (p.Glu955fs)
|
rs756159737
|
|
NM_000335.5(SCN5A):c.2946T>A (p.Cys982Ter)
|
rs1553699766
|
|
NM_000335.5(SCN5A):c.3509-1G>C
|
rs1553698563
|
|
NM_000335.5(SCN5A):c.3681C>G (p.Tyr1227Ter)
|
rs1559738598
|
|
NM_000335.5(SCN5A):c.3943C>T (p.Arg1315Ter)
|
rs1553695764
|
|
NM_000335.5(SCN5A):c.3985G>A (p.Ala1329Thr)
|
rs199473224
|
|
NM_000335.5(SCN5A):c.4717G>T (p.Glu1573Ter)
|
rs199473620
|
|
NM_000335.5(SCN5A):c.5440_5443del (p.Ser1814fs)
|
rs2061022558
|
|
NM_000335.5(SCN5A):c.612-1G>A
|
rs1200777248
|
|
NM_000338.3(SLC12A1):c.1685-2A>G
|
|
|
NM_000338.3(SLC12A1):c.2719delinsCA (p.Glu907fs)
|
|
|
NM_000338.3(SLC12A1):c.2741G>A (p.Trp914Ter)
|
|
|
NM_000338.3(SLC12A1):c.421-1G>A
|
|
|
NM_000339.2:c.(?_-30)_885del
|
|
|
NM_000340.2(SLC2A2):c.59G>A (p.Gly20Asp)
|
|
|
NM_000344.4(SMN1):c.*3+1G>A
|
rs1290417835
|
|
NM_000344.4(SMN1):c.*3+1G>C
|
rs1290417835
|
|
NM_000344.4(SMN1):c.*3+4_*3+7del
|
|
|
NM_000344.4(SMN1):c.835-2A>G
|
rs141760116
|
|
NM_000344.4(SMN1):c.835-2A>T
|
rs141760116
|
|
NM_000344.4(SMN1):c.855dup (p.Glu286fs)
|
rs1554082383
|
|
NM_000348.4(SRD5A2):c.683C>G (p.Ala228Gly)
|
|
|
NM_000349.3(STAR):c.135del (p.Ser46fs)
|
rs193922393
|
|
NM_000349.3(STAR):c.306+1G>A
|
|
|
NM_000349.3(STAR):c.674T>C (p.Met225Thr)
|
|
|
NM_000352.6(ABCC8):c.1606T>C (p.Phe536Leu)
|
rs193922396
|
|
NM_000352.6(ABCC8):c.1616A>G (p.Tyr539Cys)
|
rs193922397
|
|
NM_000352.6(ABCC8):c.1630+1G>A
|
|
|
NM_000352.6(ABCC8):c.19G>C (p.Gly7Arg)
|
|
|
NM_000352.6(ABCC8):c.2693G>A (p.Trp898Ter)
|
rs1382448285
|
|
NM_000352.6(ABCC8):c.3400-1G>A
|
rs576684889
|
|
NM_000352.6(ABCC8):c.3448_3449del (p.Val1150fs)
|
rs1263082097
|
|
NM_000352.6(ABCC8):c.3542T>G (p.Phe1181Cys)
|
rs193922399
|
|
NM_000352.6(ABCC8):c.3545G>A (p.Arg1182Gln)
|
rs193922400
|
|
NM_000352.6(ABCC8):c.4136G>T (p.Arg1379Leu)
|
rs193922401
|
|
NM_000352.6(ABCC8):c.4153T>C (p.Ser1385Pro)
|
rs2133402479
|
|
NM_000352.6(ABCC8):c.4288del (p.Leu1430fs)
|
rs2133400786
|
|
NM_000352.6(ABCC8):c.4451G>A (p.Gly1484Glu)
|
rs193922405
|
|
NM_000352.6(ABCC8):c.4553T>G (p.Ile1518Ser)
|
rs193922406
|
|
NM_000352.6(ABCC8):c.4564G>A (p.Val1522Met)
|
rs193922407
|
|
NM_000352.6(ABCC8):c.580-2A>G
|
|
|
NM_000352.6(ABCC8):c.805del (p.Ala269fs)
|
rs1564976749
|
|
NM_000359.3(TGM1):c.1491+1G>T
|
|
|
NM_000359.3(TGM1):c.814T>C (p.Ser272Pro)
|
rs764040146
|
|
NM_000360.4(TH):c.1032C>G (p.Phe344Leu)
|
|
|
NM_000360.4(TH):c.1200+2T>C
|
rs2133690169
|
|
NM_000360.4(TH):c.203del (p.Leu68fs)
|
rs1554923852
|
|
NM_000360.4(TH):c.628G>A (p.Ala210Thr)
|
rs1260455415
|
|
NM_000360.4(TH):c.90+7dup
|
rs780485650
|
|
NM_000360.4(TH):c.983G>T (p.Cys328Phe)
|
rs121917765
|
|
NM_000363.5(TNNI3):c.204del (p.Arg69fs)
|
rs727504872
|
|
NM_000363.5(TNNI3):c.611G>T (p.Arg204Leu)
|
|
|
NM_000368.5(TSC1):c.1998-2A>G
|
rs1057518217
|
|
NM_000368.5(TSC1):c.2208+2T>A
|
rs1064794132
|
|
NM_000368.5(TSC1):c.2818C>T (p.Gln940Ter)
|
rs1588290078
|
|
NM_000369.5(TSHR):c.1582C>T (p.Arg528Cys)
|
|
|
NM_000370.3(TTPA):c.339del (p.Val114fs)
|
rs1563363293
|
|
NM_000371.4(TTR):c.208A>C (p.Ser70Arg)
|
rs386134269
|
|
NM_000371.4(TTR):c.244G>A (p.Glu82Lys)
|
rs1555631402
|
|
NM_000372.5(TYR):c.307T>C (p.Cys103Arg)
|
rs1482829698
|
|
NM_000374.5(UROD):c.578G>C (p.Arg193Pro)
|
rs143823335
|
|
NM_000376.3(VDR):c.-2-1G>A
|
|
|
NM_000377.2(WAS):c.509_510del
|
rs2062418811
|
|
NM_000377.3(WAS):c.1157del (p.Pro386fs)
|
rs886041379
|
|
NM_000377.3(WAS):c.256del (p.Arg86fs)
|
|
|
NM_000377.3(WAS):c.257G>C (p.Arg86Pro)
|
rs132630268
|
|
NM_000377.3(WAS):c.290G>A (p.Trp97Ter)
|
rs1557006474
|
|
NM_000377.3(WAS):c.310C>T (p.Gln104Ter)
|
rs193922414
|
|
NM_000377.3(WAS):c.553C>T (p.Gln185Ter)
|
rs1557006672
|
|
NM_000377.3(WAS):c.763dup (p.Gln255fs)
|
rs193922416
|
|
NM_000377.3(WAS):c.852del (p.Glu285fs)
|
rs1557007035
|
|
NM_000377.3(WAS):c.869T>C (p.Ile290Thr)
|
rs2062426981
|
|
NM_000380.4(XPA):c.378T>G (p.Cys126Trp)
|
rs1451780491
|
|
NM_000380.4(XPA):c.666dup (p.Val223fs)
|
rs1554701103
|
|
NM_000380.4(XPA):c.673+1G>A
|
rs2131393093
|
|
NM_000380.4(XPA):c.759dup (p.Asp254fs)
|
|
|
NM_000380.4(XPA):c.771_775del (p.Tyr257_Lys259delinsTer)
|
|
|
NM_000382.3(ALDH3A2):c.103del (p.Gln35fs)
|
|
|
NM_000382.3(ALDH3A2):c.1108-1G>T
|
rs1036733598
|
|
NM_000382.3(ALDH3A2):c.1A>T (p.Met1Leu)
|
|
|
NM_000382.3(ALDH3A2):c.680+1G>A
|
|
|
NM_000382.3(ALDH3A2):c.681-1G>A
|
|
|
NM_000383.4(AIRE):c.114_115insAG (p.Pro39fs)
|
rs2146375213
|
|
NM_000383.4(AIRE):c.1267G>T (p.Glu423Ter)
|
|
|
NM_000383.4(AIRE):c.1490del (p.Pro497fs)
|
rs750764323
|
|
NM_000384.3(APOB):c.2249del (p.Met750fs)
|
|
|
NM_000387.6(SLC25A20):c.10C>T (p.Gln4Ter)
|
rs756998699
|
|
NM_000387.6(SLC25A20):c.241G>A (p.Gly81Arg)
|
|
|
NM_000387.6(SLC25A20):c.397C>T (p.Arg133Trp)
|
rs748394731
|
|
NM_000387.6(SLC25A20):c.575G>A (p.Trp192Ter)
|
|
|
NM_000387.6(SLC25A20):c.625del (p.Ala209fs)
|
rs2106637622
|
|
NM_000387.6(SLC25A20):c.823C>T (p.Arg275Ter)
|
|
|
NM_000388.4(CASR):c.1058A>C (p.Glu353Ala)
|
rs193922419
|
|
NM_000388.4(CASR):c.108del (p.Leu37fs)
|
rs886041823
|
|
NM_000388.4(CASR):c.1244G>A (p.Arg415Gln)
|
rs193922421
|
|
NM_000388.4(CASR):c.1377+2T>A
|
rs78925326
|
|
NM_000388.4(CASR):c.1378-1G>C
|
rs2074810403
|
|
NM_000388.4(CASR):c.1512_1515del (p.Phe505fs)
|
rs193922422
|
|
NM_000388.4(CASR):c.1664T>C (p.Ile555Thr)
|
rs1576875819
|
|
NM_000388.4(CASR):c.166del (p.Glu56fs)
|
rs193922424
|
|
NM_000388.4(CASR):c.1674_1678del (p.Glu558fs)
|
|
|
NM_000388.4(CASR):c.1676C>A (p.Pro559His)
|
rs193922425
|
|
NM_000388.4(CASR):c.1685G>C (p.Cys562Ser)
|
rs193922426
|
|
NM_000388.4(CASR):c.1685_1686delinsCT (p.Cys562Ser)
|
rs193922427
|
|
NM_000388.4(CASR):c.1884del (p.Phe629fs)
|
rs193922429
|
|
NM_000388.4(CASR):c.1934C>A (p.Ala645Asp)
|
rs193922430
|
|
NM_000388.4(CASR):c.1A>G (p.Met1Val)
|
rs2107624704
|
|
NM_000388.4(CASR):c.2014C>A (p.Pro672Thr)
|
rs193922431
|
|
NM_000388.4(CASR):c.2024G>A (p.Trp675Ter)
|
|
|
NM_000388.4(CASR):c.2065G>A (p.Val689Met)
|
rs2107649885
|
|
NM_000388.4(CASR):c.2243C>A (p.Pro748Gln)
|
rs193922433
|
|
NM_000388.4(CASR):c.2435T>C (p.Leu812Pro)
|
rs193922435
|
|
NM_000388.4(CASR):c.2449G>A (p.Val817Ile)
|
rs1057518933
|
|
NM_000388.4(CASR):c.2644A>T (p.Lys882Ter)
|
rs193922437
|
|
NM_000388.4(CASR):c.2686del (p.Arg896fs)
|
rs193922438
|
|
NM_000388.4(CASR):c.2T>C (p.Met1Thr)
|
|
|
NM_000388.4(CASR):c.380A>G (p.Glu127Gly)
|
rs121909260
|
|
NM_000388.4(CASR):c.532A>G (p.Asn178Asp)
|
rs1060502855
|
|
NM_000388.4(CASR):c.554del (p.Arg185fs)
|
rs193922442
|
|
NM_000388.4(CASR):c.643G>C (p.Asp215His)
|
rs1553731681
|
|
NM_000388.4(CASR):c.666del (p.Ile223fs)
|
rs2107632061
|
|
NM_000388.4(CASR):c.91dup (p.Asp31fs)
|
rs2107624870
|
|
NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp)
|
rs1554901784
|
|
NM_000391.4(TPP1):c.1076-2A>G
|
rs1424116749
|
|
NM_000391.4(TPP1):c.1146-1G>A
|
rs1131691676
|
|
NM_000391.4(TPP1):c.1397_1408delinsGACACCGA (p.Val466fs)
|
rs1855559514
|
|
NM_000391.4(TPP1):c.184_185del (p.Ser62fs)
|
rs1554902216
|
|
NM_000391.4(TPP1):c.380G>A (p.Arg127Gln)
|
rs121908204
|
|
NM_000391.4(TPP1):c.381-2A>G
|
rs1554902052
|
|
NM_000391.4(TPP1):c.646G>A (p.Val216Met)
|
|
|
NM_000391.4(TPP1):c.829G>A (p.Val277Met)
|
rs121908207
|
|
NM_000397.4(CYBB):c.1085C>T (p.Thr362Ile)
|
rs1569479953
|
|
NM_000397.4(CYBB):c.1140dup (p.Lys381fs)
|
rs193922445
|
|
NM_000397.4(CYBB):c.15del (p.Ala5_Val6insTer)
|
rs193922446
|
|
NM_000397.4(CYBB):c.1629_1630delinsCT (p.Glu544Ter)
|
rs2146822029
|
|
NM_000397.4(CYBB):c.607G>T (p.Glu203Ter)
|
rs193922449
|
|
NM_000400.4(ERCC2):c.1361TCA[2] (p.Ile456del)
|
rs750123656
|
|
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs)
|
rs587778271
|
|
NM_000400.4(ERCC2):c.1802G>T (p.Arg601Leu)
|
|
|
NM_000400.4(ERCC2):c.1847G>A (p.Arg616Gln)
|
rs376556895
|
|
NM_000400.4(ERCC2):c.195_196delinsTT (p.Glu66Ter)
|
|
|
NM_000400.4(ERCC2):c.2141_2148del (p.Val714fs)
|
|
|
NM_000400.4(ERCC2):c.2190+1del
|
rs1476160722
|
|
NM_000404.4(GLB1):c.1144-2A>G
|
rs1553607014
|
|
NM_000404.4(GLB1):c.1837_1838del (p.Pro613fs)
|
rs1696345066
|
|
NM_000404.4(GLB1):c.395T>C (p.Met132Thr)
|
rs1553612189
|
|
NM_000404.4(GLB1):c.733+2T>C
|
rs1699291583
|
|
NM_000410.4(HFE):c.688TAC[1] (p.Tyr231del)
|
rs766992720
|
|
NM_000410.4(HFE):c.77-2_78delinsTGGAGTC
|
rs1561939338
|
|
NM_000410.4(HFE):c.848A>C (p.Gln283Pro)
|
rs111033563
|
|
NM_000414.4(HSD17B4):c.1210-1G>A
|
rs1554065671
|
|
NM_000414.4(HSD17B4):c.1517G>A (p.Arg506His)
|
rs1554068136
|
|
NM_000414.4(HSD17B4):c.1768-1G>A
|
|
|
NM_000414.4(HSD17B4):c.393dup (p.Arg132fs)
|
|
|
NM_000414.4(HSD17B4):c.623-2A>G
|
|
|
NM_000414.4(HSD17B4):c.788del (p.Pro263fs)
|
rs1561457987
|
|
NM_000414.4(HSD17B4):c.868+1del
|
rs749532705
|
|
NM_000416.3(IFNGR1):c.201-1G>T
|
rs193922451
|
|
NM_000419.5(ITGA2B):c.1946+3G>T
|
|
|
NM_000419.5(ITGA2B):c.224del (p.Gly75fs)
|
rs1567906131
|
|
NM_000426.4(LAMA2):c.164del (p.Asn55fs)
|
|
|
NM_000426.4(LAMA2):c.1884+2T>C
|
rs968447029
|
|
NM_000426.4(LAMA2):c.2323-2A>T
|
|
|
NM_000426.4(LAMA2):c.4379del (p.Lys1460fs)
|
|
|
NM_000426.4(LAMA2):c.7666del (p.Thr2556fs)
|
rs2114839550
|
|
NM_000426.4(LAMA2):c.7881T>G (p.His2627Gln)
|
rs202247792
|
|
NM_000426.4(LAMA2):c.7935C>A (p.Tyr2645Ter)
|
|
|
NM_000426.4(LAMA2):c.8244+3_8244+6del
|
rs746678525
|
|
NM_000428.3(LTBP2):c.2428+1G>A
|
rs2139715414
|
|
NM_000432.4(MYL2):c.141del (p.Asn47fs)
|
rs2136774043
|
|
NM_000433.4(NCF2):c.1438del (p.Glu480fs)
|
rs2102875639
|
|
NM_000433.4(NCF2):c.417del (p.Ala140fs)
|
|
|
NM_000433.4(NCF2):c.500G>A (p.Trp167Ter)
|
|
|
NM_000434.4(NEU1):c.1004C>A (p.Pro335Gln)
|
|
|
NM_000434.4(NEU1):c.1021C>G (p.Arg341Gly)
|
|
|
NM_000434.4(NEU1):c.163C>T (p.Gln55Ter)
|
|
|
NM_000441.2(SLC26A4):c.1001+4A>G
|
rs1262298247
|
|
NM_000441.2(SLC26A4):c.1231G>A (p.Ala411Thr)
|
|
|
NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg)
|
rs201660407
|
|
NM_000441.2(SLC26A4):c.1264-1G>C
|
rs111033311
|
|
NM_000441.2(SLC26A4):c.1271G>A (p.Gly424Asp)
|
rs1791675770
|
|
NM_000441.2(SLC26A4):c.367C>T (p.Pro123Ser)
|
rs984967571
|
|
NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val)
|
rs756272252
|
|
NM_000441.2(SLC26A4):c.765+3A>T
|
rs483353048
|
|
NM_000443.4(ABCB4):c.762del (p.Val255fs)
|
|
|
NM_000443.4(ABCB4):c.808G>A (p.Gly270Arg)
|
rs551234479
|
|
NM_000444.6(PHEX):c.1404+2T>G
|
rs193922454
|
|
NM_000444.6(PHEX):c.1589G>A (p.Trp530Ter)
|
rs193922455
|
|
NM_000444.6(PHEX):c.1949T>C (p.Leu650Pro)
|
rs193922456
|
|
NM_000444.6(PHEX):c.1999G>T (p.Gly667Ter)
|
rs193922457
|
|
NM_000444.6(PHEX):c.318G>A (p.Trp106Ter)
|
rs193922458
|
|
NM_000444.6(PHEX):c.349+1G>C
|
rs193922459
|
|
NM_000444.6(PHEX):c.824T>C (p.Leu275Pro)
|
rs2147040261
|
|
NM_000444.6(PHEX):c.884_885dup (p.Met296fs)
|
rs193922460
|
|
NM_000448.3(RAG1):c.2904C>A (p.Asn968Lys)
|
rs193922463
|
|
NM_000455.5(STK11):c.69del (p.Asp23fs)
|
rs2080670725
|
|
NM_000455.5(STK11):c.725G>A (p.Gly242Glu)
|
rs1568708382
|
|
NM_000455.5(STK11):c.851del (p.Asp284fs)
|
rs1555738723
|
|
NM_000458.4(HNF1B):c.1006C>T (p.His336Tyr)
|
|
|
NM_000458.4(HNF1B):c.1325T>C (p.Met442Thr)
|
|
|
NM_000458.4(HNF1B):c.221T>A (p.Leu74Ter)
|
|
|
NM_000458.4(HNF1B):c.344G>A (p.Ser115Asn)
|
|
|
NM_000458.4(HNF1B):c.345-1G>T
|
|
|
NM_000458.4(HNF1B):c.477del (p.Pro159_Met160insTer)
|
|
|
NM_000458.4(HNF1B):c.511T>C (p.Trp171Arg)
|
|
|
NM_000458.4(HNF1B):c.703C>T (p.Arg235Trp)
|
|
|
NM_000458.4(HNF1B):c.949G>T (p.Ala317Ser)
|
|
|
NM_000458.4(HNF1B):c.962A>G (p.Asn321Ser)
|
|
|
NM_000465.4(BARD1):c.159-1G>A
|
rs879254139
|
|
NM_000465.4(BARD1):c.159-1G>T
|
rs879254139
|
|
NM_000465.4(BARD1):c.1872del (p.Leu625fs)
|
rs876659572
|
|
NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer)
|
rs587782504
|
|
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter)
|
rs752514155
|
|
NM_000466.3(PEX1):c.129+1G>A
|
rs2116298327
|
|
NM_000466.3(PEX1):c.130-2A>T
|
rs1585260993
|
|
NM_000466.3(PEX1):c.1351_1354dup (p.Asn452fs)
|
rs1792596054
|
|
NM_000466.3(PEX1):c.1583_1587del (p.Ile528fs)
|
|
|
NM_000466.3(PEX1):c.1900+2T>C
|
rs1562857198
|
|
NM_000466.3(PEX1):c.1927del (p.Thr643fs)
|
rs1554372180
|
|
NM_000466.3(PEX1):c.249_250insT (p.Leu84fs)
|
rs1793076195
|
|
NM_000466.3(PEX1):c.2822_2823del (p.Glu941fs)
|
rs2116095487
|
|
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter)
|
rs61750428
|
|
NM_000466.3(PEX1):c.56_80del (p.Val19fs)
|
rs1793398751
|
|
NM_000475.5(NR0B1):c.1094T>C (p.Leu365Pro)
|
rs386134262
|
|
NM_000475.5(NR0B1):c.1141C>T (p.Leu381Phe)
|
rs386134263
|
|
NM_000478.6(ALPL):c.1010A>G (p.Asp337Gly)
|
rs1219494274
|
|
NM_000478.6(ALPL):c.1171del (p.Arg391fs)
|
rs751404811
|
|
NM_000478.6(ALPL):c.1181_1182del (p.Ser394fs)
|
rs1344601362
|
|
NM_000478.6(ALPL):c.130C>T (p.Gln44Ter)
|
rs1057516293
|
|
NM_000478.6(ALPL):c.1417G>A (p.Gly473Ser)
|
rs1644755212
|
|
NM_000478.6(ALPL):c.152C>T (p.Ala51Val)
|
|
|
NM_000478.6(ALPL):c.1553_1568del (p.Tyr518fs)
|
rs772638759
|
|
NM_000478.6(ALPL):c.212G>C (p.Arg71Pro)
|
rs121918003
|
|
NM_000478.6(ALPL):c.29T>C (p.Ile10Thr)
|
|
|
NM_000478.6(ALPL):c.340G>A (p.Ala114Thr)
|
rs1320839573
|
|
NM_000478.6(ALPL):c.522del (p.Ser175fs)
|
rs750174638
|
|
NM_000478.6(ALPL):c.650delinsCTAA (p.Val217delinsAlaLys)
|
rs1553413155
|
|
NM_000478.6(ALPL):c.874C>A (p.Pro292Thr)
|
rs765458125
|
|
NM_000478.6(ALPL):c.874C>T (p.Pro292Ser)
|
|
|
NM_000478.6(ALPL):c.94C>T (p.Gln32Ter)
|
rs1209147330
|
|
NM_000481.4(AMT):c.230C>A (p.Ser77Ter)
|
rs386833680
|
|
NM_000481.4(AMT):c.381_383delinsGG (p.Asp128fs)
|
rs2107933735
|
|
NM_000481.4(AMT):c.383del (p.Asp128fs)
|
rs2107933731
|
|
NM_000481.4(AMT):c.954_959delinsAAGGCA (p.Arg320His)
|
|
|
NM_000481.4(AMT):c.982_983delinsT (p.Ala328fs)
|
rs386833692
|
|
NM_000481.4(AMT):c.992G>A (p.Arg331Gln)
|
rs1368099067
|
|
NM_000484.4(APP):c.2113C>G (p.Leu705Val)
|
rs63750921
|
|
NM_000486.6(AQP2):c.223T>G (p.Cys75Gly)
|
rs193922494
|
|
NM_000486.6(AQP2):c.785del (p.Pro262fs)
|
rs193922496
|
|
NM_000486.6(AQP2):c.85G>A (p.Gly29Ser)
|
|
|
NM_000487.6(ARSA):c.1108-1G>C
|
rs2146718041
|
|
NM_000487.6(ARSA):c.1210+1G>T
|
rs80338820
|
|
NM_000487.6(ARSA):c.1227_1228del (p.Thr410fs)
|
rs2082647866
|
|
NM_000487.6(ARSA):c.1492dup (p.Arg498fs)
|
rs774153480
|
|
NM_000487.6(ARSA):c.200del (p.Pro67fs)
|
rs2082697802
|
|
NM_000487.6(ARSA):c.211_212del (p.Cys71fs)
|
rs1057516288
|
|
NM_000487.6(ARSA):c.244del (p.Arg82fs)
|
rs1569081823
|
|
NM_000487.6(ARSA):c.418C>G (p.His140Asp)
|
rs199476358
|
|
NM_000487.6(ARSA):c.925G>T (p.Glu309Ter)
|
rs199476360
|
|
NM_000487.6(ARSA):c.942G>T (p.Glu314Asp)
|
rs199476390
|
|
NM_000487.6(ARSA):c.979_979+3del
|
rs1057516887
|
|
NM_000487.6(ARSA):c.991G>T (p.Glu331Ter)
|
rs398123419
|
|
NM_000489.6(ATRX):c.1396A>T (p.Arg466Ter)
|
|
|
NM_000489.6(ATRX):c.2422C>T (p.Arg808Ter)
|
rs891068548
|
|
NM_000489.6(ATRX):c.659G>A (p.Cys220Tyr)
|
rs122445111
|
|
NM_000489.6(ATRX):c.77C>A (p.Ser26Ter)
|
rs2073481839
|
|
NM_000492.3(CFTR):c.[2816A>G;2846A>T]
|
|
|
NM_000492.4(CFTR):c.1132C>T (p.Gln378Ter)
|
rs2115882158
|
|
NM_000492.4(CFTR):c.1135G>T (p.Glu379Ter)
|
rs397508165
|
|
NM_000492.4(CFTR):c.114C>G (p.Tyr38Ter)
|
rs193922498
|
|
NM_000492.4(CFTR):c.1210-2_1210-1del
|
rs1562894926
|
|
NM_000492.4(CFTR):c.1219G>T (p.Glu407Ter)
|
rs766063304
|
|
NM_000492.4(CFTR):c.1330_1331del (p.Asp443_Ile444insTer)
|
rs397508190
|
|
NM_000492.4(CFTR):c.1333_1336del (p.Asn445fs)
|
rs749854099
|
|
NM_000492.4(CFTR):c.1397C>T (p.Ser466Leu)
|
rs121908805
|
|
NM_000492.4(CFTR):c.1585-2A>T
|
rs397508233
|
|
NM_000492.4(CFTR):c.1712T>C (p.Leu571Ser)
|
rs397508280
|
|
NM_000492.4(CFTR):c.1763A>T (p.Glu588Val)
|
rs397508297
|
|
NM_000492.4(CFTR):c.1801A>T (p.Ile601Phe)
|
rs397508306
|
|
NM_000492.4(CFTR):c.1801del (p.Ile601fs)
|
rs1792031758
|
|
NM_000492.4(CFTR):c.1882G>A (p.Gly628Arg)
|
rs397508316
|
|
NM_000492.4(CFTR):c.1920_1921dup (p.Ser641fs)
|
rs1584812217
|
|
NM_000492.4(CFTR):c.1970del (p.Arg657fs)
|
rs2116030992
|
|
NM_000492.4(CFTR):c.1973del (p.Arg658fs)
|
|
|
NM_000492.4(CFTR):c.1979C>G (p.Ser660Ter)
|
rs1562907896
|
|
NM_000492.4(CFTR):c.217del (p.Leu73fs)
|
rs397508348
|
|
NM_000492.4(CFTR):c.2203del (p.Arg735fs)
|
rs397508351
|
|
NM_000492.4(CFTR):c.2455G>T (p.Glu819Ter)
|
rs1792051187
|
|
NM_000492.4(CFTR):c.2552G>T (p.Arg851Leu)
|
rs397508395
|
|
NM_000492.4(CFTR):c.2644_2645dup (p.Trp882fs)
|
rs1554390864
|
|
NM_000492.4(CFTR):c.273G>C (p.Gly91=)
|
rs773739166
|
|
NM_000492.4(CFTR):c.274-1G>C
|
rs121908792
|
|
NM_000492.4(CFTR):c.2768C>A (p.Ala923Asp)
|
rs193922509
|
|
NM_000492.4(CFTR):c.2816A>G (p.His939Arg)
|
rs397508440
|
|
NM_000492.4(CFTR):c.2907A>C (p.Ala969=)
|
rs377502207
|
|
NM_000492.4(CFTR):c.2908+1G>A
|
rs1060503164
|
|
NM_000492.4(CFTR):c.2909-15T>G
|
rs397508455
|
|
NM_000492.4(CFTR):c.2932A>T (p.Lys978Ter)
|
rs193922514
|
|
NM_000492.4(CFTR):c.2936A>C (p.Asp979Ala)
|
rs397508462
|
|
NM_000492.4(CFTR):c.2982_2988+2del
|
rs1554391489
|
|
NM_000492.4(CFTR):c.2988+1G>T
|
rs75096551
|
|
NM_000492.4(CFTR):c.2989-2A>T
|
rs193922515
|
|
NM_000492.4(CFTR):c.2993del (p.Leu998fs)
|
rs1057516415
|
|
NM_000492.4(CFTR):c.3014T>G (p.Ile1005Arg)
|
rs397508479
|
|
NM_000492.4(CFTR):c.3014dup (p.Ala1006fs)
|
rs1792366769
|
|
NM_000492.4(CFTR):c.3106A>G (p.Thr1036Ala)
|
|
|
NM_000492.4(CFTR):c.3107C>T (p.Thr1036Ile)
|
rs397508498
|
|
NM_000492.4(CFTR):c.3134C>A (p.Ser1045Tyr)
|
rs1584821736
|
|
NM_000492.4(CFTR):c.3139+1del
|
rs780546355
|
|
NM_000492.4(CFTR):c.3140-11A>G
|
|
|
NM_000492.4(CFTR):c.3194T>G (p.Leu1065Arg)
|
rs121909036
|
|
NM_000492.4(CFTR):c.3292T>C (p.Trp1098Arg)
|
rs397508531
|
|
NM_000492.4(CFTR):c.3294G>T (p.Trp1098Cys)
|
rs397508533
|
|
NM_000492.4(CFTR):c.329A>T (p.Asp110Val)
|
|
|
NM_000492.4(CFTR):c.3367+1G>A
|
rs1470125842
|
|
NM_000492.4(CFTR):c.3368-2A>T
|
rs755416052
|
|
NM_000492.4(CFTR):c.3475T>C (p.Ser1159Pro)
|
rs397508572
|
|
NM_000492.4(CFTR):c.350G>T (p.Arg117Leu)
|
rs78655421
|
|
NM_000492.4(CFTR):c.3546C>G (p.Tyr1182Ter)
|
rs397508581
|
|
NM_000492.4(CFTR):c.3623del (p.Gly1208fs)
|
rs35396083
|
|
NM_000492.4(CFTR):c.3691del (p.Ser1231fs)
|
rs77035409
|
|
NM_000492.4(CFTR):c.370G>C (p.Gly124Arg)
|
rs193922519
|
|
NM_000492.4(CFTR):c.3719T>G (p.Val1240Gly)
|
rs397508598
|
|
NM_000492.4(CFTR):c.3731G>T (p.Gly1244Val)
|
rs267606723
|
|
NM_000492.4(CFTR):c.380_382dup (p.Leu127dup)
|
rs193922521
|
|
NM_000492.4(CFTR):c.3846G>C (p.Trp1282Cys)
|
rs77010898
|
|
NM_000492.4(CFTR):c.3874-1G>A
|
rs397508624
|
|
NM_000492.4(CFTR):c.3874-2A>C
|
rs1554396384
|
|
NM_000492.4(CFTR):c.3874-2A>G
|
rs1554396384
|
|
NM_000492.4(CFTR):c.3896C>T (p.Thr1299Ile)
|
rs397508634
|
|
NM_000492.4(CFTR):c.3957_3958insAGGG (p.Asp1320fs)
|
rs193922523
|
|
NM_000492.4(CFTR):c.396del (p.Ile132fs)
|
rs1798854379
|
|
NM_000492.4(CFTR):c.3971T>C (p.Leu1324Pro)
|
rs397508653
|
|
NM_000492.4(CFTR):c.3988_3989del (p.Gln1330fs)
|
rs1057516457
|
|
NM_000492.4(CFTR):c.3997G>T (p.Gly1333Trp)
|
rs193922524
|
|
NM_000492.4(CFTR):c.4046del (p.Gly1349fs)
|
rs1793342111
|
|
NM_000492.4(CFTR):c.4097T>A (p.Ile1366Asn)
|
rs200955612
|
|
NM_000492.4(CFTR):c.4136+1G>A
|
rs1562928997
|
|
NM_000492.4(CFTR):c.4242+2T>C
|
rs193922526
|
|
NM_000492.4(CFTR):c.4272C>G (p.Tyr1424Ter)
|
rs1800135
|
|
NM_000492.4(CFTR):c.4280T>C (p.Ile1427Thr)
|
rs193922528
|
|
NM_000492.4(CFTR):c.4307_4320del (p.Leu1436fs)
|
rs1562929573
|
|
NM_000492.4(CFTR):c.4408G>T (p.Glu1470Ter)
|
|
|
NM_000492.4(CFTR):c.4417G>T (p.Glu1473Ter)
|
rs397508716
|
|
NM_000492.4(CFTR):c.484A>G (p.Lys162Glu)
|
rs397508731
|
|
NM_000492.4(CFTR):c.488del (p.Lys163fs)
|
rs1554379899
|
|
NM_000492.4(CFTR):c.489+2T>C
|
rs397508732
|
|
NM_000492.4(CFTR):c.489+43_580-354del
|
|
|
NM_000492.4(CFTR):c.523A>G (p.Ile175Val)
|
rs397508744
|
|
NM_000492.4(CFTR):c.531dup (p.Gly178fs)
|
rs121908771
|
|
NM_000492.4(CFTR):c.662del (p.Ala221fs)
|
rs2116676645
|
|
NM_000492.4(CFTR):c.709C>G (p.Gln237Glu)
|
rs397508784
|
|
NM_000492.4(CFTR):c.744-2A>G
|
rs1057516646
|
|
NM_000492.4(CFTR):c.744-9_744-2delinsTACG
|
|
|
NM_000492.4(CFTR):c.811del (p.Ser271fs)
|
rs1554380789
|
|
NM_000492.4(CFTR):c.930del (p.Phe311fs)
|
rs1584789226
|
|
NM_000492.4(CFTR):c.941G>T (p.Gly314Val)
|
rs75763344
|
|
NM_000497.4(CYP11B1):c.396-2A>G
|
|
|
NM_000497.4(CYP11B1):c.595+1G>C
|
|
|
NM_000497.4(CYP11B1):c.596-2A>G
|
|
|
NM_000497.4(CYP11B1):c.726del (p.Ser243fs)
|
rs1327055239
|
|
NM_000497.4(CYP11B1):c.799+2T>C
|
rs193922541
|
|
NM_000498.3(CYP11B2):c.945C>G (p.Ser315Arg)
|
|
|
NM_000500.9(CYP21A2):c.1064G>A (p.Arg355His)
|
|
|
NM_000500.9(CYP21A2):c.1298C>T (p.Pro433Leu)
|
|
|
NM_000501.4(ELN):c.1245dup (p.Gly416fs)
|
rs1795220933
|
|
NM_000507.4(FBP1):c.881G>T (p.Gly294Val)
|
|
|
NM_000512.5(GALNS):c.143T>G (p.Val48Gly)
|
rs191519947
|
|
NM_000512.5(GALNS):c.489del (p.Asn164fs)
|
rs1328983959
|
|
NM_000512.5(GALNS):c.775C>T (p.Arg259Trp)
|
rs61742258
|
|
NM_000512.5(GALNS):c.899-2A>G
|
rs1165218506
|
|
NM_000512.5(GALNS):c.916T>G (p.Phe306Val)
|
rs2142999207
|
|
NM_000516.7(GNAS):c.1100_1132delinsATGTC (p.Val367fs)
|
|
|
NM_000518.4(HBB):c.-136C>A
|
|
|
NM_000518.4(HBB):c.-77_-76delAA
|
rs63750953
|
|
NM_000518.4(HBB):c.191A>G (p.His64Arg)
|
rs33985544
|
|
NM_000518.5(HBB):c.*110_*111del
|
rs63750205
|
|
NM_000518.5(HBB):c.126dup (p.Phe43fs)
|
rs2133588679
|
|
NM_000518.5(HBB):c.155del (p.Pro52fs)
|
rs63750128
|
|
NM_000518.5(HBB):c.176del (p.Pro59fs)
|
rs35395625
|
|
NM_000518.5(HBB):c.19_20delinsAT (p.Glu7Met)
|
rs193922552
|
|
NM_000518.5(HBB):c.1A>C (p.Met1Leu)
|
rs34563000
|
|
NM_000518.5(HBB):c.201del (p.Val68fs)
|
rs193922553
|
|
NM_000518.5(HBB):c.226del (p.Leu76fs)
|
rs34218908
|
|
NM_000518.5(HBB):c.233_234del (p.His78fs)
|
rs2133588176
|
|
NM_000518.5(HBB):c.292_295dup (p.Val99fs)
|
rs1564874901
|
|
NM_000518.5(HBB):c.2T>A (p.Met1Lys)
|
rs33941849
|
|
NM_000518.5(HBB):c.315+2T>G
|
rs63750283
|
|
NM_000518.5(HBB):c.315+2del
|
rs1564874813
|
|
NM_000518.5(HBB):c.316-1G>A
|
rs33952266
|
|
NM_000518.5(HBB):c.316-1G>T
|
rs33952266
|
|
NM_000518.5(HBB):c.396_397del (p.Lys133fs)
|
rs63750320
|
|
NM_000518.5(HBB):c.440_441dup (p.Ter148ThrextTer?)
|
rs33999427
|
|
NM_000518.5(HBB):c.64dup (p.Asp22fs)
|
rs1554918165
|
|
NM_000518.5(HBB):c.76_92+27del
|
rs63751076
|
|
NM_000518.5(HBB):c.8del (p.His3fs)
|
rs1847589398
|
|
NM_000518.5(HBB):c.92G>A (p.Arg31Lys)
|
rs33960103
|
|
NM_000520.6(HEXA):c.1039_1056del (p.Asp347_Glu352del)
|
|
|
NM_000520.6(HEXA):c.103C>T (p.Gln35Ter)
|
rs2089059318
|
|
NM_000520.6(HEXA):c.1183del (p.Asp395fs)
|
rs770303210
|
|
NM_000520.6(HEXA):c.1307_1308del (p.Ile436fs)
|
rs777042785
|
|
NM_000520.6(HEXA):c.1421+1G>T
|
rs147324677
|
|
NM_000520.6(HEXA):c.1499del (p.Leu500fs)
|
rs1567295184
|
|
NM_000520.6(HEXA):c.1525_1526+27del
|
rs2140319516
|
|
NM_000520.6(HEXA):c.1549dup (p.Leu517fs)
|
rs1555472161
|
|
NM_000520.6(HEXA):c.316C>T (p.Gln106Ter)
|
rs773446161
|
|
NM_000520.6(HEXA):c.616del (p.Leu205_Val206insTer)
|
rs2088690482
|
|
NM_000520.6(HEXA):c.778C>T (p.Pro260Ser)
|
|
|
NM_000520.6(HEXA):c.805G>C (p.Gly269Arg)
|
rs121907954
|
|
NM_000520.6(HEXA):c.902T>G (p.Met301Arg)
|
rs121907977
|
|
NM_000520.6(HEXA):c.987G>A (p.Trp329Ter)
|
rs121907967
|
|
NM_000521.4(HEXB):c.1023_1026del (p.Ser341fs)
|
rs776476415
|
|
NM_000521.4(HEXB):c.1294dup (p.Glu432fs)
|
rs775920504
|
|
NM_000521.4(HEXB):c.1305_1306del (p.Arg435fs)
|
rs779328596
|
|
NM_000521.4(HEXB):c.1345del (p.Trp449fs)
|
rs1324338803
|
|
NM_000521.4(HEXB):c.1418-12_1418del
|
rs1554037076
|
|
NM_000521.4(HEXB):c.1611_1613+2del
|
rs1554037170
|
|
NM_000521.4(HEXB):c.1613+15_1613+18dup
|
rs779273534
|
|
NM_000521.4(HEXB):c.1640dup (p.Tyr547Ter)
|
|
|
NM_000521.4(HEXB):c.170G>A (p.Trp57Ter)
|
rs1114167287
|
|
NM_000521.4(HEXB):c.512-1G>T
|
rs1554035308
|
|
NM_000521.4(HEXB):c.529C>T (p.Gln177Ter)
|
rs1749120310
|
|
NM_000521.4(HEXB):c.558+1G>C
|
rs1198764997
|
|
NM_000521.4(HEXB):c.703C>T (p.His235Tyr)
|
rs1554035822
|
|
NM_000525.4(KCNJ11):c.5T>C (p.Leu2Pro)
|
rs193922565
|
|
NM_000527.5(LDLR):c.1012T>G (p.Cys338Gly)
|
rs879254753
|
|
NM_000527.5(LDLR):c.1186+2T>G
|
rs779921498
|
|
NM_000527.5(LDLR):c.1291G>C (p.Ala431Pro)
|
rs28942079
|
|
NM_000527.5(LDLR):c.1514G>A (p.Gly505Asp)
|
rs879254926
|
|
NM_000527.5(LDLR):c.1586+5G>C
|
rs781362878
|
|
NM_000527.5(LDLR):c.1846-1_1847dup
|
rs2147264768
|
|
NM_000527.5(LDLR):c.1853T>G (p.Val618Gly)
|
rs1057519677
|
|
NM_000527.5(LDLR):c.1855T>C (p.Phe619Leu)
|
rs747134711
|
|
NM_000527.5(LDLR):c.1867dup (p.Ile623fs)
|
rs1555807206
|
|
NM_000527.5(LDLR):c.1898G>T (p.Arg633Leu)
|
rs754536745
|
|
NM_000527.5(LDLR):c.1942T>C (p.Ser648Pro)
|
rs879255079
|
|
NM_000527.5(LDLR):c.1946C>T (p.Pro649Leu)
|
rs879255081
|
|
NM_000527.5(LDLR):c.1978C>T (p.Gln660Ter)
|
rs193922569
|
|
NM_000527.5(LDLR):c.230del (p.Gly77fs)
|
rs879254440
|
|
NM_000527.5(LDLR):c.2389+4A>G
|
rs758493597
|
|
NM_000527.5(LDLR):c.274del (p.Gln92fs)
|
rs2077232183
|
|
NM_000527.5(LDLR):c.2T>C (p.Met1Thr)
|
rs1555800701
|
|
NM_000527.5(LDLR):c.362G>A (p.Cys121Tyr)
|
rs193922571
|
|
NM_000527.5(LDLR):c.515_516delinsTT (p.Asp172Val)
|
|
|
NM_000527.5(LDLR):c.591C>G (p.Cys197Trp)
|
rs879254584
|
|
NM_000527.5(LDLR):c.622G>T (p.Glu208Ter)
|
rs879254597
|
|
NM_000527.5(LDLR):c.669_680dup (p.Ser226_Asp227insGluAspLysSer)
|
rs879254626
|
|
NM_000527.5(LDLR):c.777T>G (p.Tyr259Ter)
|
rs2147228929
|
|
NM_000527.5(LDLR):c.974G>A (p.Cys325Tyr)
|
rs879254746
|
|
NM_000528.4(MAN2B1):c.1929-2A>G
|
rs2023856348
|
|
NM_000528.4(MAN2B1):c.2398G>C (p.Gly800Arg)
|
rs398123456
|
|
NM_000528.4(MAN2B1):c.2747G>A (p.Arg916His)
|
rs758765126
|
|
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs)
|
rs1057516864
|
|
NM_000528.4(MAN2B1):c.590C>G (p.Pro197Arg)
|
rs864621977
|
|
NM_000530.8(MPZ):c.303G>C (p.Trp101Cys)
|
rs1558154149
|
|
NM_000531.6(OTC):c.140_141insG (p.Asn47fs)
|
rs72554314
|
|
NM_000531.6(OTC):c.364_365insTT (p.Glu122fs)
|
rs72554355
|
|
NM_000531.6(OTC):c.418G>C (p.Ala140Pro)
|
rs72556260
|
|
NM_000531.6(OTC):c.443T>C (p.Leu148Ser)
|
rs67016166
|
|
NM_000531.6(OTC):c.628A>G (p.Lys210Glu)
|
|
|
NM_000531.6(OTC):c.663G>T (p.Lys221Asn)
|
|
|
NM_000531.6(OTC):c.814GAG[1] (p.Glu273del)
|
rs72558452
|
|
NM_000531.6(OTC):c.844del (p.Gln282fs)
|
rs2068530290
|
|
NM_000531.6(OTC):c.860_861dup (p.Met288fs)
|
rs2068530385
|
|
NM_000531.6(OTC):c.943G>T (p.Val315Phe)
|
rs72558470
|
|
NM_000532.5(PCCB):c.1146T>A (p.Asp382Glu)
|
rs2108237867
|
|
NM_000532.5(PCCB):c.1172T>C (p.Phe391Ser)
|
|
|
NM_000532.5(PCCB):c.1217_1219delinsTAGA (p.Gly406fs)
|
|
|
NM_000532.5(PCCB):c.1223_1231delinsCAGGA (p.Ile408fs)
|
|
|
NM_000532.5(PCCB):c.1499-2A>G
|
|
|
NM_000532.5(PCCB):c.154_183+17del
|
rs2108128051
|
|
NM_000532.5(PCCB):c.155_183+17del
|
rs1941483558
|
|
NM_000532.5(PCCB):c.183+3G>C
|
rs398123461
|
|
NM_000532.5(PCCB):c.429+3_429+6del
|
rs1941792728
|
|
NM_000532.5(PCCB):c.593G>A (p.Gly198Asp)
|
|
|
NM_000532.5(PCCB):c.947T>G (p.Met316Arg)
|
rs2108208811
|
|
NM_000535.7(PMS2):c.1120C>T (p.Gln374Ter)
|
rs1437858319
|
|
NM_000535.7(PMS2):c.123_131del (p.Leu42_Glu44del)
|
rs863224676
|
|
NM_000535.7(PMS2):c.1336_1402del (p.Ser445_Pro446insTer)
|
rs1562633331
|
|
NM_000535.7(PMS2):c.1348A>T (p.Lys450Ter)
|
rs1060503142
|
|
NM_000535.7(PMS2):c.1351del (p.Arg451fs)
|
rs1562634268
|
|
NM_000535.7(PMS2):c.1571dup (p.Gly525fs)
|
rs1554297534
|
|
NM_000535.7(PMS2):c.1634_1635del (p.Ser545fs)
|
rs753256070
|
|
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter)
|
rs1554297125
|
|
NM_000535.7(PMS2):c.1911_1912delinsAT (p.Gln638Ter)
|
rs1782941753
|
|
NM_000535.7(PMS2):c.1970del (p.Asn657fs)
|
rs1064794566
|
|
NM_000535.7(PMS2):c.1A>C (p.Met1Leu)
|
rs587779333
|
|
NM_000535.7(PMS2):c.2007-2_2007-1delinsCA
|
rs1782473185
|
|
NM_000535.7(PMS2):c.2095G>C (p.Asp699His)
|
rs587781317
|
|
NM_000535.7(PMS2):c.2444_2445insTT (p.Val816fs)
|
rs2128671557
|
|
NM_000535.7(PMS2):c.2445+1G>C
|
rs876661113
|
|
NM_000535.7(PMS2):c.2533del (p.His845fs)
|
rs1064796500
|
|
NM_000535.7(PMS2):c.353+1G>A
|
rs113517055
|
|
NM_000535.7(PMS2):c.445del (p.Tyr149fs)
|
rs769742496
|
|
NM_000535.7(PMS2):c.733_741delinsGCTGTGCTGTGAAG (p.Leu245_Pro247delinsAlaValLeuTer)
|
rs1554301495
|
|
NM_000535.7(PMS2):c.733_741delinsGCTGTGTTGTGAAG (p.Leu245_Pro247delinsAlaValLeuTer)
|
rs1554301495
|
|
NM_000535.7(PMS2):c.851del (p.Ser283_Ser284insTer)
|
rs876658964
|
|
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu)
|
rs193922572
|
|
NM_000536.4(RAG2):c.193G>T (p.Asp65Tyr)
|
rs909264507
|
|
NM_000538.4(RFXAP):c.39_40insAC (p.Ala14fs)
|
rs2138212278
|
|
NM_000540.3(RYR1):c.14763C>G (p.Phe4921Leu)
|
rs1974410266
|
|
NM_000540.3(RYR1):c.14904C>A (p.Tyr4968Ter)
|
rs2145918040
|
|
NM_000540.3(RYR1):c.2836G>T (p.Glu946Ter)
|
rs1967997615
|
|
NM_000540.3(RYR1):c.3046C>T (p.Arg1016Ter)
|
rs759085500
|
|
NM_000540.3(RYR1):c.9001-2A>G
|
rs774119942
|
|
NM_000543.5(SMPD1):c.106_107delinsCGCTGGC (p.Val36fs)
|
|
|
NM_000543.5(SMPD1):c.107_116delinsCGC (p.Val36fs)
|
rs1590735307
|
|
NM_000543.5(SMPD1):c.1264-1G>T
|
rs1057516454
|
|
NM_000543.5(SMPD1):c.1268A>G (p.His423Arg)
|
|
|
NM_000543.5(SMPD1):c.1462A>G (p.Thr488Ala)
|
|
|
NM_000543.5(SMPD1):c.148_151del (p.Ser50fs)
|
rs281860676
|
|
NM_000543.5(SMPD1):c.1518C>G (p.Tyr506Ter)
|
rs943924098
|
|
NM_000543.5(SMPD1):c.1716C>G (p.Phe572Leu)
|
|
|
NM_000543.5(SMPD1):c.354del (p.Ile119fs)
|
rs727504165
|
|
NM_000545.8(HNF1A):c.1129del (p.Leu377fs)
|
rs193922576
|
|
NM_000545.8(HNF1A):c.1265T>C (p.Leu422Pro)
|
rs193922577
|
|
NM_000545.8(HNF1A):c.1345_1346insG (p.Ile449fs)
|
rs2135847490
|
|
NM_000545.8(HNF1A):c.139_155del (p.Gly47fs)
|
rs2135819737
|
|
NM_000545.8(HNF1A):c.1506_1507dup (p.Tyr503fs)
|
rs193922582
|
|
NM_000545.8(HNF1A):c.169del (p.Leu57fs)
|
rs193922588
|
|
NM_000545.8(HNF1A):c.1766dup (p.Val590fs)
|
|
|
NM_000545.8(HNF1A):c.1A>G (p.Met1Val)
|
rs193922592
|
|
NM_000545.8(HNF1A):c.281C>T (p.Pro94Leu)
|
rs193922593
|
|
NM_000545.8(HNF1A):c.313dup (p.Glu105fs)
|
rs193922594
|
|
NM_000545.8(HNF1A):c.369GCA[4] (p.Gln125dup)
|
rs193922596
|
|
NM_000545.8(HNF1A):c.441C>A (p.His147Gln)
|
rs193922597
|
|
NM_000545.8(HNF1A):c.518_526+37del
|
rs386134267
|
|
NM_000545.8(HNF1A):c.52G>T (p.Glu18Ter)
|
rs1876084046
|
|
NM_000545.8(HNF1A):c.663GAA[1] (p.Lys222del)
|
rs193922599
|
|
NM_000545.8(HNF1A):c.670C>T (p.Pro224Ser)
|
rs193922600
|
|
NM_000545.8(HNF1A):c.731G>T (p.Arg244Ile)
|
rs193922602
|
|
NM_000545.8(HNF1A):c.734G>T (p.Gly245Val)
|
rs193922603
|
|
NM_000545.8(HNF1A):c.790G>T (p.Val264Phe)
|
rs193922604
|
|
NM_000545.8(HNF1A):c.803T>C (p.Phe268Ser)
|
rs193922605
|
|
NM_000545.8(HNF1A):c.872C>G (p.Pro291Arg)
|
rs193922606
|
|
NM_000546.6(TP53):c.1028del (p.Glu343fs)
|
rs2150994907
|
|
NM_000546.6(TP53):c.324_331delinsAAA (p.Phe109fs)
|
rs2073455679
|
|
NM_000546.6(TP53):c.375+2T>C
|
rs1555526469
|
|
NM_000546.6(TP53):c.464C>A (p.Thr155Asn)
|
rs786202752
|
|
NM_000546.6(TP53):c.557_559+2delinsGGGG
|
rs1567552467
|
|
NM_000546.6(TP53):c.559+2del
|
rs1567552459
|
|
NM_000546.6(TP53):c.713G>T (p.Cys238Phe)
|
rs730882005
|
|
NM_000546.6(TP53):c.749C>T (p.Pro250Leu)
|
rs1064794311
|
|
NM_000546.6(TP53):c.782+1G>T
|
rs1555525429
|
|
NM_000546.6(TP53):c.799C>T (p.Arg267Trp)
|
rs55832599
|
|
NM_000546.6(TP53):c.869G>T (p.Arg290Leu)
|
rs55819519
|
|
NM_000546.6(TP53):c.891_915dup (p.Ala307_Leu308insAlaProArgGluHisTer)
|
rs2073171970
|
|
NM_000548.5(TSC2):c.4316dup (p.Gln1440fs)
|
rs137853988
|
|
NM_000551.4(VHL):c.189dup (p.Arg64fs)
|
rs1553619402
|
|
NM_000551.4(VHL):c.192del (p.Ser65fs)
|
rs730882031
|
|
NM_000551.4(VHL):c.245G>T (p.Arg82Leu)
|
rs794726890
|
|
NM_000551.4(VHL):c.256C>G (p.Pro86Ala)
|
rs398123481
|
|
NM_000551.4(VHL):c.336C>G (p.Tyr112Ter)
|
rs751232153
|
|
NM_000551.4(VHL):c.340+1G>C
|
rs730882032
|
|
NM_000551.4(VHL):c.371C>T (p.Thr124Ile)
|
rs193922610
|
|
NM_000551.4(VHL):c.392A>G (p.Asn131Ser)
|
rs1553619963
|
|
NM_000551.4(VHL):c.458T>A (p.Leu153Gln)
|
rs193922611
|
|
NM_000551.4(VHL):c.483del (p.Cys162fs)
|
rs1696355438
|
|
NM_000551.4(VHL):c.492G>T (p.Gln164His)
|
rs1352275281
|
|
NM_000551.4(VHL):c.524A>G (p.Tyr175Cys)
|
rs193922613
|
|
NM_000551.4(VHL):c.642A>G (p.Ter214Trp)
|
rs1559430011
|
|
NM_000552.5(VWF):c.1156+1G>A
|
|
|
NM_000552.5(VWF):c.3538+1G>C
|
|
|
NM_000552.5(VWF):c.3839_3845dup (p.Asp1283fs)
|
rs61749377
|
|
NM_000552.5(VWF):c.5170+1G>A
|
rs764543553
|
|
NM_000553.6(WRN):c.654+2T>C
|
|
|
NM_000553.6(WRN):c.96+1G>T
|
|
|
NM_000558.5(HBA1):c.2T>A (p.Met1Lys)
|
|
|
NM_000558.5(HBA1):c.95+2_95+6del
|
rs1181505507
|
|
NM_000593.6(TAP1):c.-46_-45delinsAT
|
rs1770963822
|
|
NM_000629.3(IFNAR1):c.1356del (p.Phe452fs)
|
|
|
NM_000631.5(NCF4):c.33-1G>A
|
rs2145702588
|
|
NM_000631.5(NCF4):c.471-1G>A
|
|
|
NM_000642.3(AGL):c.1405C>T (p.Arg469Ter)
|
rs766536350
|
|
NM_000642.3(AGL):c.1437C>A (p.Tyr479Ter)
|
rs140095668
|
|
NM_000642.3(AGL):c.214_215del (p.Glu72fs)
|
rs754978531
|
|
NM_000642.3(AGL):c.2155C>T (p.Gln719Ter)
|
rs1652018859
|
|
NM_000642.3(AGL):c.2433+1G>A
|
rs2100768428
|
|
NM_000642.3(AGL):c.293+1del
|
rs777857395
|
|
NM_000642.3(AGL):c.4422del (p.Ala1475fs)
|
rs1286364615
|
|
NM_000642.3(AGL):c.535_538del (p.Leu179fs)
|
rs794727706
|
|
NM_000666.3(ACY1):c.160-1G>A
|
|
|
NM_000702.4(ATP1A2):c.2336G>A (p.Ser779Asn)
|
rs2101995480
|
|
NM_000709.4(BCKDHA):c.1168-2A>G
|
rs1555767285
|
|
NM_000709.4(BCKDHA):c.1226T>G (p.Phe409Cys)
|
rs137852872
|
|
NM_000709.4(BCKDHA):c.1255C>T (p.Gln419Ter)
|
|
|
NM_000709.4(BCKDHA):c.14del (p.Ile5fs)
|
rs398123494
|
|
NM_000709.4(BCKDHA):c.32G>A (p.Trp11Ter)
|
|
|
NM_000719.7(CACNA1C):c.6031G>A (p.Val2011Ile)
|
rs193922615
|
|
NM_000719.7(CACNA1C):c.6307G>T (p.Ala2103Ser)
|
rs193922616
|
|
NM_000733.4(CD3E):c.288T>A (p.Tyr96Ter)
|
|
|
NM_000782.5(CYP24A1):c.233_234delinsC (p.Gly78fs)
|
|
|
NM_000784.4(CYP27A1):c.108del (p.Ser37fs)
|
|
|
NM_000784.4(CYP27A1):c.1126del (p.Gln376fs)
|
|
|
NM_000784.4(CYP27A1):c.1435C>G (p.Arg479Gly)
|
rs72551322
|
|
NM_000784.4(CYP27A1):c.586_587del (p.Ser196fs)
|
rs758739930
|
|
NM_000784.4(CYP27A1):c.58del (p.Leu20fs)
|
rs2106479076
|
|
NM_000785.4(CYP27B1):c.374G>A (p.Gly125Glu)
|
rs28934605
|
|
NM_000789.4(ACE):c.1511del (p.Pro504fs)
|
|
|
NM_000817.3(GAD1):c.1297G>T (p.Gly433Ter)
|
|
|
NM_000834.5(GRIN2B):c.1675T>C (p.Trp559Arg)
|
rs1949368959
|
|
NM_000925.4(PDHB):c.310T>G (p.Leu104Val)
|
rs201199166
|
|
NM_000925.4(PDHB):c.818del (p.Pro273fs)
|
|
|
NM_000942.5(PPIB):c.528+1G>C
|
rs1228817029
|
|
NM_001002294.3(FMO3):c.584C>T (p.Ser195Leu)
|
|
|
NM_001003694.2(BRPF1):c.1038del (p.Arg347fs)
|
rs2125500625
|
|
NM_001003841.3(SLC6A19):c.1550A>G (p.Asp517Gly)
|
|
|
NM_001003841.3(SLC6A19):c.169C>T (p.Arg57Cys)
|
|
|
NM_001005242.3(PKP2):c.1138G>T (p.Glu380Ter)
|
rs878898365
|
|
NM_001005242.3(PKP2):c.1368del (p.Lys456fs)
|
rs1393661338
|
|
NM_001005242.3(PKP2):c.1708del (p.Leu570fs)
|
rs1555142994
|
|
NM_001005242.3(PKP2):c.1896G>A (p.Trp632Ter)
|
rs193922673
|
|
NM_001005242.3(PKP2):c.2180_2181del (p.Leu727fs)
|
rs1064794350
|
|
NM_001005242.3(PKP2):c.2311_2316delinsGAAA (p.Asn771fs)
|
rs786204395
|
|
NM_001005242.3(PKP2):c.2437_2445+41del
|
rs1064792928
|
|
NM_001008212.2(OPTN):c.552+2T>G
|
|
|
NM_001008216.2(GALE):c.1004G>A (p.Arg335His)
|
|
|
NM_001008216.2(GALE):c.207C>A (p.Asp69Glu)
|
rs1261697960
|
|
NM_001008537.3(NEXMIF):c.2091_2113del (p.Asp698fs)
|
rs2080109236
|
|
NM_001008537.3(NEXMIF):c.3592A>T (p.Lys1198Ter)
|
rs2147439364
|
|
NM_001009944.3(PKD1):c.7300C>T (p.Arg2434Trp)
|
rs151257298
|
|
NM_001009944.3(PKD1):c.7704-1G>A
|
|
|
NM_001009944.3(PKD1):c.7984C>T (p.Gln2662Ter)
|
rs757768731
|
|
NM_001009944.3(PKD1):c.[8279T>C;8282G>C8291T>C]
|
|
|
NM_001010867.4(IBA57):c.913C>T (p.Gln305Ter)
|
|
|
NM_001010867.4(IBA57):c.[338_341+2del;341+5del]
|
|
|
NM_001017420.3(ESCO2):c.845_848del (p.Lys282fs)
|
|
|
NM_001018115.3(FANCD2):c.1252C>T (p.Gln418Ter)
|
|
|
NM_001018115.3(FANCD2):c.1827+1G>C
|
rs761074497
|
|
NM_001018115.3(FANCD2):c.1866_1867delinsAT (p.Gln623Ter)
|
rs2125032674
|
|
NM_001018115.3(FANCD2):c.3597del (p.Ala1199_Ile1200insTer)
|
|
|
NM_001018115.3(FANCD2):c.982C>T (p.Arg328Ter)
|
rs1223055462
|
|
NM_001020658.2(PUM1):c.1773del (p.Ser592fs)
|
rs1640658015
|
|
NM_001020658.2(PUM1):c.1876C>T (p.Gln626Ter)
|
|
|
NM_001024630.4(RUNX2):c.90del (p.Ser31fs)
|
rs397515538
|
|
NM_001024845.3(SLC6A9):c.1536+1G>A
|
|
|
NM_001025603.2(RFX5):c.137dup (p.Glu47fs)
|
|
|
NM_001025603.2(RFX5):c.233+1G>T
|
|
|
NM_001025603.2(RFX5):c.555+1G>C
|
rs367771361
|
|
NM_001025603.2(RFX5):c.859-2A>G
|
|
|
NM_001029896.2(WDR45):c.52C>T (p.Gln18Ter)
|
rs1569523562
|
|
NM_001031726.4(C19orf12):c.164_166delGGG
|
rs398122409
|
|
NM_001032386.2(SUOX):c.51-2A>C
|
|
|
NM_001032386.2(SUOX):c.768C>A (p.Tyr256Ter)
|
|
|
NM_001032386.2(SUOX):c.842_843del (p.Leu281fs)
|
rs748900391
|
|
NM_001033855.3(DCLRE1C):c.1265C>G (p.Ser422Ter)
|
rs1354336544
|
|
NM_001033855.3(DCLRE1C):c.247-1G>C
|
rs2131027668
|
|
NM_001034116.2(EIF2B4):c.1337G>A (p.Arg446His)
|
|
|
NM_001034116.2(EIF2B4):c.32-1G>T
|
rs1682246203
|
|
NM_001034116.2(EIF2B4):c.498+2_498+5del
|
|
|
NM_001035.3(RYR2):c.13528G>A (p.Ala4510Thr)
|
rs397516510
|
|
NM_001035.3(RYR2):c.14314G>A (p.Gly4772Ser)
|
rs193922622
|
|
NM_001035.3(RYR2):c.37T>C (p.Phe13Leu)
|
rs794728761
|
|
NM_001039591.3(USP9X):c.5636ATT[2] (p.Tyr1881del)
|
|
|
NM_001039876.3(SYNE4):c.377del (p.Gly126fs)
|
|
|
NM_001039876.3(SYNE4):c.653T>A (p.Leu218Ter)
|
|
|
NM_001039958.2(MESP2):c.11C>A (p.Ser4Ter)
|
rs1555439013
|
|
NM_001040616.3(LINS1):c.631+1G>A
|
|
|
NM_001042432.2(CLN3):c.1000C>T (p.Arg334Cys)
|
rs386833694
|
|
NM_001042432.2(CLN3):c.1075del (p.Leu359fs)
|
rs2046023126
|
|
NM_001042432.2(CLN3):c.1197+1G>A
|
|
|
NM_001042432.2(CLN3):c.1268C>A (p.Ser423Ter)
|
rs386833706
|
|
NM_001042432.2(CLN3):c.240del (p.Pro81fs)
|
rs748710466
|
|
NM_001042432.2(CLN3):c.265C>T (p.Arg89Ter)
|
rs386833713
|
|
NM_001042432.2(CLN3):c.558_559del (p.Gly187fs)
|
rs386833729
|
|
NM_001042432.2(CLN3):c.954_962+18del
|
rs386833741
|
|
NM_001042492.3(NF1):c.1062+3A>G
|
rs1057521098
|
|
NM_001042492.3(NF1):c.1408G>T (p.Glu470Ter)
|
rs1597698330
|
|
NM_001042492.3(NF1):c.1884del (p.Phe627_Tyr628insTer)
|
rs2066990429
|
|
NM_001042492.3(NF1):c.2002-14C>G
|
|
|
NM_001042492.3(NF1):c.2099del (p.Thr700fs)
|
|
|
NM_001042492.3(NF1):c.2331G>A (p.Trp777Ter)
|
rs1555613983
|
|
NM_001042492.3(NF1):c.2764G>A (p.Gly922Ser)
|
rs1135402831
|
|
NM_001042492.3(NF1):c.2990+5G>A
|
rs1555614464
|
|
NM_001042492.3(NF1):c.3315-2A>C
|
rs1555614914
|
|
NM_001042492.3(NF1):c.3329_3332del (p.Leu1109_Phe1110insTer)
|
rs2067134264
|
|
NM_001042492.3(NF1):c.3432T>A (p.Cys1144Ter)
|
rs2067136971
|
|
NM_001042492.3(NF1):c.3892C>T (p.Gln1298Ter)
|
rs2067193761
|
|
NM_001042492.3(NF1):c.4720_4724del (p.Thr1574fs)
|
rs2067692232
|
|
NM_001042492.3(NF1):c.4910del (p.Lys1637fs)
|
|
|
NM_001042492.3(NF1):c.5129del (p.Asp1710fs)
|
rs2069334590
|
|
NM_001042492.3(NF1):c.5376C>A (p.Cys1792Ter)
|
rs1597832002
|
|
NM_001042492.3(NF1):c.5609+5G>T
|
rs1597832498
|
|
NM_001042492.3(NF1):c.5662del (p.Ile1888fs)
|
rs2069449497
|
|
NM_001042492.3(NF1):c.7321+1G>T
|
rs1135402903
|
|
NM_001042492.3(NF1):c.7846C>T (p.Gln2616Ter)
|
rs1555536713
|
|
NM_001042545.2(LTBP4):c.1426+1G>T
|
|
|
NM_001042681.2(RERE):c.1541-1G>T
|
rs2124375440
|
|
NM_001044385.3(TMEM237):c.636G>A (p.Trp212Ter)
|
rs2105899200
|
|
NM_001044385.3(TMEM237):c.725G>A (p.Trp242Ter)
|
|
|
NM_001046.3(SLC12A2):c.1279G>T (p.Gly427Ter)
|
|
|
NM_001048166.1(STIL):c.384dup (p.His129fs)
|
rs2149199098
|
|
NM_001048174.2(MUTYH):c.1079T>C (p.Leu360Pro)
|
rs1060501335
|
|
NM_001048174.2(MUTYH):c.1351G>T (p.Glu451Ter)
|
rs376790729
|
|
NM_001048174.2(MUTYH):c.309G>A (p.Trp103Ter)
|
rs587781295
|
|
NM_001048174.2(MUTYH):c.424del (p.Glu141_Val142insTer)
|
rs1553129062
|
|
NM_001048174.2(MUTYH):c.629A>G (p.Asn210Ser)
|
rs1057517765
|
|
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe)
|
rs587780749
|
|
NM_001048174.2(MUTYH):c.867_868del (p.Leu290fs)
|
rs2149134563
|
|
NM_001077350.3(NPRL3):c.1184_1188del (p.Val395fs)
|
|
|
NM_001077365.2(POMT1):c.1657del (p.Leu553fs)
|
rs794727190
|
|
NM_001077365.2(POMT1):c.2040_2050del (p.Val681fs)
|
rs1950265792
|
|
NM_001077365.2(POMT1):c.314G>A (p.Arg105His)
|
rs1554772469
|
|
NM_001077418.3(TMEM231):c.248G>A (p.Trp83Ter)
|
rs2080804101
|
|
NM_001077418.3(TMEM231):c.279dup (p.Gly94fs)
|
|
|
NM_001077418.3(TMEM231):c.438+1G>C
|
rs1415483600
|
|
NM_001077418.3(TMEM231):c.815A>C (p.Gln272Pro)
|
rs397514754
|
|
NM_001079.4(ZAP70):c.109C>G (p.Arg37Gly)
|
rs1573261820
|
|
NM_001079802.2(FKTN):c.567_568delinsTT (p.Leu189_Arg190delinsPheTer)
|
rs2132800044
|
|
NM_001079866.2(BCS1L):c.1186del (p.Val396fs)
|
|
|
NM_001079866.2(BCS1L):c.1A>T (p.Met1Leu)
|
|
|
NM_001079866.2(BCS1L):c.320+1G>T
|
rs386833856
|
|
NM_001079866.2(BCS1L):c.478C>T (p.Gln160Ter)
|
rs373105002
|
|
NM_001080414.4(CCDC88C):c.3301_3302del (p.Ser1101fs)
|
|
|
NM_001082538.3(TCTN1):c.1284del (p.Thr429fs)
|
rs1566003392
|
|
NM_001082538.3(TCTN1):c.1494+2T>C
|
|
|
NM_001082971.2(DDC):c.1241dup (p.Ser416fs)
|
|
|
NM_001082971.2(DDC):c.1339C>T (p.Arg447Cys)
|
|
|
NM_001082971.2(DDC):c.242C>T (p.Pro81Leu)
|
rs935725316
|
|
NM_001083116.3(PRF1):c.116C>A (p.Pro39His)
|
|
|
NM_001083116.3(PRF1):c.1180C>T (p.Gln394Ter)
|
|
|
NM_001083116.3(PRF1):c.1183T>C (p.Cys395Arg)
|
rs2132475562
|
|
NM_001083116.3(PRF1):c.1189_1190dup (p.His398fs)
|
rs1361687182
|
|
NM_001083116.3(PRF1):c.1A>G (p.Met1Val)
|
rs1848222357
|
|
NM_001083116.3(PRF1):c.985dup (p.Val329fs)
|
rs1848171715
|
|
NM_001083961.2(WDR62):c.269+1G>T
|
|
|
NM_001089.3(ABCA3):c.127C>T (p.Arg43Cys)
|
|
|
NM_001089.3(ABCA3):c.2741A>G (p.Lys914Arg)
|
|
|
NM_001089.3(ABCA3):c.3341C>T (p.Thr1114Met)
|
|
|
NM_001099287.2(NIPAL4):c.4G>T (p.Glu2Ter)
|
|
|
NM_001099287.2(NIPAL4):c.587-2A>G
|
|
|
NM_001099857.5(IKBKG):c.262GAG[1] (p.Glu89del)
|
rs386134238
|
|
NM_001099857.5(IKBKG):c.470A>C (p.Gln157Pro)
|
rs386134240
|
|
NM_001099857.5(IKBKG):c.931G>A (p.Asp311Asn)
|
rs179363867
|
|
NM_001100.4(ACTA1):c.49G>C (p.Gly17Arg)
|
rs121909521
|
|
NM_001101.5(ACTB):c.629G>A (p.Arg210His)
|
rs1064793444
|
|
NM_001110792.2(MECP2):c.1209_1243del (p.Pro403_Glu404insTer)
|
rs2148659508
|
|
NM_001110792.2(MECP2):c.143_149del (p.Lys48fs)
|
rs267608424
|
|
NM_001110792.2(MECP2):c.254_260del (p.Ala85fs)
|
rs2148666767
|
|
NM_001110792.2(MECP2):c.386C>G (p.Ala129Gly)
|
|
|
NM_001110792.2(MECP2):c.507C>A (p.Phe169Leu)
|
rs267608484
|
|
NM_001110792.2(MECP2):c.610A>T (p.Lys204Ter)
|
rs193922679
|
|
NM_001110792.2(MECP2):c.686C>T (p.Pro229Leu)
|
rs878853312
|
|
NM_001110792.2(MECP2):c.764_767del (p.Thr255fs)
|
rs1569548428
|
|
NM_001113378.2(FANCI):c.1512+1G>A
|
rs2151551135
|
|
NM_001113378.2(FANCI):c.295del (p.His99fs)
|
rs759398314
|
|
NM_001113378.2(FANCI):c.3187-2A>G
|
|
|
NM_001113378.2(FANCI):c.3493del (p.Asp1165fs)
|
rs758597713
|
|
NM_001113378.2(FANCI):c.3626_3627del (p.Cys1209fs)
|
rs770318990
|
|
NM_001113378.2(FANCI):c.849T>A (p.Tyr283Ter)
|
rs760412752
|
|
NM_001114753.3(ENG):c.219G>A (p.Thr73=)
|
rs755348996
|
|
NM_001122769.3(LCA5):c.516_519del (p.Lys172fs)
|
rs1286660951
|
|
NM_001122769.3(LCA5):c.550del (p.Ala184fs)
|
rs2127680021
|
|
NM_001126108.2(SLC12A3):c.1188C>A (p.Cys396Ter)
|
rs747139582
|
|
NM_001126108.2(SLC12A3):c.1262G>A (p.Cys421Tyr)
|
rs781342495
|
|
NM_001126108.2(SLC12A3):c.2369-2A>G
|
|
|
NM_001126108.2(SLC12A3):c.2800C>T (p.Arg934Trp)
|
|
|
NM_001127222.2(CACNA1A):c.2343dup (p.Arg782fs)
|
|
|
NM_001127222.2(CACNA1A):c.5014C>T (p.Arg1672Cys)
|
rs794727558
|
|
NM_001127222.2(CACNA1A):c.5529-1241_5529-1240del
|
rs1568440440
|
|
NM_001127222.2(CACNA1A):c.6397C>T (p.Arg2133Ter)
|
rs1555730878
|
|
NM_001127649.3(PEX26):c.185G>A (p.Trp62Ter)
|
rs1556586479
|
|
NM_001127671.2(LIFR):c.254del (p.Asn85fs)
|
rs886041545
|
|
NM_001128159.3(VPS53):c.1704+1G>A
|
|
|
NM_001128159.3(VPS53):c.1787+1G>A
|
|
|
NM_001128159.3(VPS53):c.594del (p.Gln199fs)
|
|
|
NM_001128159.3(VPS53):c.869G>A (p.Trp290Ter)
|
rs370828258
|
|
NM_001128178.3(NPHP1):c.1083+1G>A
|
|
|
NM_001128178.3(NPHP1):c.144-1G>A
|
|
|
NM_001128227.3(GNE):c.79C>T (p.Arg27Ter)
|
rs794727279
|
|
NM_001128425.2(MUTYH):c.200del (p.Gly67fs)
|
rs746449748
|
|
NM_001128431.4(SLC39A14):c.628-2A>G
|
|
|
NM_001130987.2(DYSF):c.1149+5G>A
|
rs1023002894
|
|
NM_001130987.2(DYSF):c.3091G>T (p.Glu1031Ter)
|
|
|
NM_001130987.2(DYSF):c.3172C>T (p.Arg1058Trp)
|
rs1553556116
|
|
NM_001130987.2(DYSF):c.3687del (p.Phe1229fs)
|
|
|
NM_001130987.2(DYSF):c.4414G>T (p.Glu1472Ter)
|
rs576130413
|
|
NM_001130987.2(DYSF):c.4794dup (p.Ile1599fs)
|
rs2152940961
|
|
NM_001130987.2(DYSF):c.5885-1G>A
|
|
|
NM_001130987.2(DYSF):c.953T>A (p.Val318Glu)
|
rs398123807
|
|
NM_001134363.3(RBM20):c.2687del (p.Glu896fs)
|
rs2135120754
|
|
NM_001134407.3(GRIN2A):c.703G>T (p.Glu235Ter)
|
rs2044763223
|
|
NM_001134793.2(HYLS1):c.268C>T (p.Arg90Ter)
|
|
|
NM_001134793.2(HYLS1):c.523G>T (p.Glu175Ter)
|
rs1482689330
|
|
NM_001134831.2(AHI1):c.1671del (p.Gly558fs)
|
rs2128056526
|
|
NM_001134831.2(AHI1):c.1985G>A (p.Trp662Ter)
|
|
|
NM_001134831.2(AHI1):c.2388_2389del (p.Glu797fs)
|
|
|
NM_001134831.2(AHI1):c.2495T>G (p.Leu832Ter)
|
rs863225131
|
|
NM_001134831.2(AHI1):c.3426+2T>C
|
|
|
NM_001134831.2(AHI1):c.917del (p.Lys306fs)
|
rs1181159671
|
|
NM_001136193.2(FASTKD2):c.991-2A>G
|
|
|
NM_001139.3(ALOX12B):c.1071+2T>C
|
|
|
NM_001139.3(ALOX12B):c.1261C>T (p.His421Tyr)
|
rs1977099347
|
|
NM_001139.3(ALOX12B):c.1926+1G>A
|
rs2151820983
|
|
NM_001139.3(ALOX12B):c.416_417del (p.Ala139fs)
|
rs1977208852
|
|
NM_001139.3(ALOX12B):c.928-2A>G
|
rs1567982673
|
|
NM_001142800.2(EYS):c.2275_2276del (p.Cys759fs)
|
rs758506938
|
|
NM_001142800.2(EYS):c.525_527del (p.Glu176del)
|
rs780433094
|
|
NM_001142800.2(EYS):c.5290dup (p.Ile1764fs)
|
rs761760327
|
|
NM_001142800.2(EYS):c.5536_5543del (p.Val1846fs)
|
rs2149830976
|
|
NM_001142800.2(EYS):c.5550_5551del (p.Glu1850fs)
|
rs2149830970
|
|
NM_001142800.2(EYS):c.8541T>A (p.Cys2847Ter)
|
|
|
NM_001142800.2(EYS):c.8628dup (p.Thr2877fs)
|
rs2149624980
|
|
NM_001142800.2(EYS):c.9079_9082del (p.Arg3027fs)
|
rs1427770112
|
|
NM_001142800.2(EYS):c.9131G>T (p.Trp3044Leu)
|
rs772549804
|
|
NM_001142800.2(EYS):c.9277_9278dup (p.Arg3094fs)
|
rs869312188
|
|
NM_001142800.2(EYS):c.9354dup (p.Gln3119fs)
|
rs771640639
|
|
NM_001142966.3(GREB1L):c.5622T>A (p.Cys1874Ter)
|
rs2037623971
|
|
NM_001145026.2(PTPRQ):c.3022A>T (p.Asn1008Tyr)
|
|
|
NM_001160372.4(TRAPPC9):c.1928del (p.Tyr643fs)
|
|
|
NM_001164277.2(SLC37A4):c.1019_1038del (p.Phe340fs)
|
rs1943525176
|
|
NM_001164277.2(SLC37A4):c.148+2T>A
|
|
|
NM_001164277.2(SLC37A4):c.148G>A (p.Gly50Arg)
|
|
|
NM_001164277.2(SLC37A4):c.234G>A (p.Trp78Ter)
|
rs781857990
|
|
NM_001164277.2(SLC37A4):c.681G>A (p.Trp227Ter)
|
rs2134635160
|
|
NM_001164277.2(SLC37A4):c.872-2A>C
|
rs920196110
|
|
NM_001164508.2(NEB):c.1035+1G>A
|
|
|
NM_001164508.2(NEB):c.10438_10442del (p.Ile3480fs)
|
|
|
NM_001164508.2(NEB):c.14827-2A>C
|
|
|
NM_001164508.2(NEB):c.16704+1G>A
|
rs1227806763
|
|
NM_001164508.2(NEB):c.18024_18027del (p.Val6009fs)
|
rs748358450
|
|
NM_001164508.2(NEB):c.18918G>A (p.Trp6306Ter)
|
rs1559952676
|
|
NM_001164508.2(NEB):c.19156G>T (p.Glu6386Ter)
|
rs2153702280
|
|
NM_001164508.2(NEB):c.19519A>T (p.Lys6507Ter)
|
|
|
NM_001164508.2(NEB):c.19626+1G>A
|
rs756352186
|
|
NM_001164508.2(NEB):c.20554G>T (p.Glu6852Ter)
|
rs777819332
|
|
NM_001164508.2(NEB):c.2079C>A (p.Cys693Ter)
|
|
|
NM_001164508.2(NEB):c.20975_20976del (p.Lys6992fs)
|
rs1559680233
|
|
NM_001164508.2(NEB):c.21141del (p.Ile7047fs)
|
rs2093339890
|
|
NM_001164508.2(NEB):c.2310+5G>A
|
|
|
NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter)
|
rs1575714905
|
|
NM_001164508.2(NEB):c.23628_23631del (p.Gln7876fs)
|
rs1161478770
|
|
NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs)
|
rs934111355
|
|
NM_001164508.2(NEB):c.24911_24914dup (p.Phe8305fs)
|
rs2152822941
|
|
NM_001164508.2(NEB):c.25214del (p.Gly8405fs)
|
rs1553520266
|
|
NM_001164508.2(NEB):c.25297+1G>A
|
rs113525641
|
|
NM_001164508.2(NEB):c.3252_3255+3del
|
rs1559168230
|
|
NM_001164508.2(NEB):c.3987+1G>A
|
rs780022652
|
|
NM_001164508.2(NEB):c.4337G>T (p.Gly1446Val)
|
rs541803470
|
|
NM_001164508.2(NEB):c.5722del (p.Ser1908fs)
|
rs1553484601
|
|
NM_001164508.2(NEB):c.6385C>T (p.Gln2129Ter)
|
rs80344795
|
|
NM_001164508.2(NEB):c.734del (p.Gly245fs)
|
rs1559573882
|
|
NM_001164508.2(NEB):c.7647C>G (p.Tyr2549Ter)
|
rs1373493309
|
|
NM_001164508.2(NEB):c.7665del (p.Arg2556fs)
|
|
|
NM_001164508.2(NEB):c.9465del (p.Ile3156fs)
|
rs1553939600
|
|
NM_001165963.4(SCN1A):c.1259del (p.Ala420fs)
|
rs2105862149
|
|
NM_001165963.4(SCN1A):c.1273del (p.Ala425fs)
|
rs1553546836
|
|
NM_001165963.4(SCN1A):c.2043+1G>A
|
rs751533302
|
|
NM_001165963.4(SCN1A):c.264+5G>A
|
rs794726762
|
|
NM_001165963.4(SCN1A):c.4339-12C>A
|
rs776548109
|
|
NM_001165963.4(SCN1A):c.4467del (p.Lys1491fs)
|
rs1559118914
|
|
NM_001165963.4(SCN1A):c.4783_4784del (p.Leu1595fs)
|
rs1689682880
|
|
NM_001165963.4(SCN1A):c.5218G>A (p.Asp1740Asn)
|
rs796053035
|
|
NM_001165963.4(SCN1A):c.5336A>G (p.Asn1779Ser)
|
rs797045940
|
|
NM_001170629.2(CHD8):c.1093C>T (p.Gln365Ter)
|
rs746163664
|
|
NM_001173976.2(TCTN1):c.1011-2_1012del
|
|
|
NM_001174089.2(SLC4A11):c.44-91A>G
|
|
|
NM_001174089.2(SLC4A11):c.93C>G (p.Tyr31Ter)
|
|
|
NM_001174150.2(ARL13B):c.246del (p.Ile81_Trp82insTer)
|
|
|
NM_001174150.2(ARL13B):c.59+1G>A
|
|
|
NM_001174150.2(ARL13B):c.598C>T (p.Arg200Cys)
|
rs121912608
|
|
NM_001174150.2(ARL13B):c.801del (p.Asn267fs)
|
|
|
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs)
|
rs752472169
|
|
NM_001174150.2(ARL13B):c.976C>T (p.Gln326Ter)
|
|
|
NM_001177316.2(SLC34A3):c.1238C>A (p.Ala413Glu)
|
rs121918235
|
|
NM_001182.5(ALDH7A1):c.494G>T (p.Gly165Val)
|
rs375491094
|
|
NM_001182.5(ALDH7A1):c.76_82del (p.Ala26fs)
|
rs1373022366
|
|
NM_001182.5(ALDH7A1):c.859C>T (p.Gln287Ter)
|
rs1204010423
|
|
NM_001190274.2(FBXO11):c.2728G>T (p.Asp910Tyr)
|
|
|
NM_001190737.2(NFIB):c.265C>T (p.Arg89Ter)
|
rs764333096
|
|
NM_001193313.2(SUGCT):c.313-1G>C
|
|
|
NM_001194998.2(CEP152):c.1783-1G>C
|
|
|
NM_001194998.2(CEP152):c.3212del (p.Leu1071fs)
|
rs1555418825
|
|
NM_001195263.2(PDZD7):c.1011C>G (p.Tyr337Ter)
|
|
|
NM_001195518.2(MICU1):c.40del (p.Ala14fs)
|
rs749124658
|
|
NM_001199563.2(BVES):c.518dup (p.Ser174fs)
|
|
|
NM_001201543.2(FAM161A):c.378del (p.Gln127fs)
|
|
|
NM_001201543.2(FAM161A):c.70G>T (p.Gly24Ter)
|
rs2105111295
|
|
NM_001206744.2(TPO):c.1009G>A (p.Glu337Lys)
|
|
|
NM_001242957.3(MAK):c.1087_1088del (p.Gln364fs)
|
rs1196153507
|
|
NM_001242957.3(MAK):c.393dup (p.Leu132fs)
|
|
|
NM_001243279.3(ACSF3):c.1303G>T (p.Glu435Ter)
|
|
|
NM_001243279.3(ACSF3):c.1328del (p.Thr443fs)
|
rs2151521127
|
|
NM_001243279.3(ACSF3):c.1577dup (p.His526fs)
|
|
|
NM_001243279.3(ACSF3):c.403G>T (p.Glu135Ter)
|
rs752534981
|
|
NM_001244008.2(KIF1A):c.32G>A (p.Arg11Gln)
|
rs1575654528
|
|
NM_001244189.1(KIAA0586):c.2602_2612del11
|
|
|
NM_001244710.2(GFPT1):c.*22C>A
|
rs199678034
|
|
NM_001244710.2(GFPT1):c.211G>T (p.Glu71Ter)
|
|
|
NM_001244710.2(GFPT1):c.739+1G>A
|
|
|
NM_001256715.2(DNAAF3):c.548_558dup (p.Ser187delinsArgSerProTer)
|
rs2147297973
|
|
NM_001257180.2(SLC20A2):c.852del (p.Ile285fs)
|
|
|
NM_001261826.3(AP3D1):c.2143del (p.Val715fs)
|
|
|
NM_001267550.2(TTN):c.100766-1G>T
|
|
|
NM_001267550.2(TTN):c.104771C>A (p.Ser34924Ter)
|
rs1559003939
|
|
NM_001267550.2(TTN):c.105747_105766del (p.Pro35250fs)
|
|
|
NM_001267550.2(TTN):c.19426+2T>A
|
rs727505178
|
|
NM_001267550.2(TTN):c.41483del (p.Pro13828fs)
|
rs876657664
|
|
NM_001267550.2(TTN):c.42486_42489del (p.Cys14163fs)
|
rs797046064
|
|
NM_001267550.2(TTN):c.43960C>T (p.Gln14654Ter)
|
rs1463883512
|
|
NM_001267550.2(TTN):c.51436C>T (p.Gln17146Ter)
|
rs906494713
|
|
NM_001267550.2(TTN):c.51931G>T (p.Glu17311Ter)
|
rs2154198430
|
|
NM_001267550.2(TTN):c.52233_52237del (p.Lys17413fs)
|
rs2055544893
|
|
NM_001267550.2(TTN):c.52567del (p.Leu17523fs)
|
|
|
NM_001267550.2(TTN):c.52903C>T (p.Arg17635Ter)
|
rs2154197219
|
|
NM_001267550.2(TTN):c.53259del (p.Lys17753fs)
|
rs1389777522
|
|
NM_001267550.2(TTN):c.54190+1G>A
|
rs756339648
|
|
NM_001267550.2(TTN):c.54514A>T (p.Lys18172Ter)
|
|
|
NM_001267550.2(TTN):c.55200_55204delinsG (p.Val18401fs)
|
|
|
NM_001267550.2(TTN):c.60993_60994del (p.Arg20331fs)
|
rs2154184570
|
|
NM_001267550.2(TTN):c.61614del (p.Ala20539fs)
|
|
|
NM_001267550.2(TTN):c.69838C>T (p.Gln23280Ter)
|
rs1710057805
|
|
NM_001267550.2(TTN):c.75568del (p.Ala25190fs)
|
|
|
NM_001267550.2(TTN):c.78348dup (p.Gly26117fs)
|
|
|
NM_001267550.2(TTN):c.79684C>T (p.Arg26562Ter)
|
rs869025545
|
|
NM_001267550.2(TTN):c.81532G>T (p.Glu27178Ter)
|
rs397517721
|
|
NM_001267550.2(TTN):c.83339_83342del (p.Lys27780fs)
|
|
|
NM_001267550.2(TTN):c.85612_85619del (p.Glu28538fs)
|
rs794729353
|
|
NM_001267550.2(TTN):c.89040G>A (p.Trp29680Ter)
|
|
|
NM_001267550.2(TTN):c.8983del (p.Glu2995fs)
|
|
|
NM_001267550.2(TTN):c.90370G>T (p.Glu30124Ter)
|
rs1553539995
|
|
NM_001267550.2(TTN):c.90760G>T (p.Gly30254Ter)
|
rs1060500495
|
|
NM_001267550.2(TTN):c.93396_93400del (p.Ala31133_Trp31134insTer)
|
rs886044536
|
|
NM_001267550.2(TTN):c.98468dup (p.Asp32823fs)
|
rs2154140040
|
|
NM_001267550.2(TTN):c.98994del (p.Lys32998fs)
|
rs727504535
|
|
NM_001270.4(CHD1):c.3133G>A (p.Glu1045Lys)
|
|
|
NM_001271.4(CHD2):c.1154-1G>T
|
|
|
NM_001271.4(CHD2):c.2764del (p.Glu922fs)
|
rs2141844216
|
|
NM_001271938.2(MEGF8):c.1741C>T (p.Gln581Ter)
|
|
|
NM_001271938.2(MEGF8):c.7005+1G>T
|
rs1224632697
|
|
NM_001271938.2(MEGF8):c.7024G>T (p.Glu2342Ter)
|
|
|
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp)
|
rs74315380
|
|
NM_001276345.2(TNNT2):c.643C>T (p.Arg215Trp)
|
rs45586240
|
|
NM_001278116.2(L1CAM):c.1829-2A>G
|
|
|
NM_001278116.2(L1CAM):c.2269C>T (p.Gln757Ter)
|
|
|
NM_001278116.2(L1CAM):c.2380C>T (p.Gln794Ter)
|
rs875989884
|
|
NM_001278116.2(L1CAM):c.2432-1G>A
|
|
|
NM_001278116.2(L1CAM):c.2712del (p.Ala906fs)
|
rs2064703218
|
|
NM_001278116.2(L1CAM):c.3241C>T (p.Gln1081Ter)
|
rs2064692244
|
|
NM_001278116.2(L1CAM):c.523+12C>T
|
rs886039406
|
|
NM_001278716.2(FBXL4):c.1435_1439delinsG (p.Lys479fs)
|
|
|
NM_001278716.2(FBXL4):c.1435_1440delinsGAAAAAT (p.Lys479fs)
|
|
|
NM_001278716.2(FBXL4):c.1544del (p.Cys515fs)
|
rs2128375658
|
|
NM_001282531.3(ADNP):c.3047dup (p.Ala1017fs)
|
|
|
NM_001283009.2(RTEL1):c.1482-1G>A
|
rs863225129
|
|
NM_001283009.2(RTEL1):c.2413+1G>C
|
rs776744306
|
|
NM_001283009.2(RTEL1):c.2851+1G>A
|
rs1421904176
|
|
NM_001286577.2(C2CD3):c.2969_2972delinsGGTTTACA (p.Ser990fs)
|
|
|
NM_001286577.2(C2CD3):c.3345-1G>A
|
|
|
NM_001290043.2(TAP2):c.814_815delinsC (p.Leu272fs)
|
|
|
NM_001292063.2(OTOG):c.5926del (p.Gln1976fs)
|
|
|
NM_001303.4(COX10):c.413_414del (p.Lys138fs)
|
rs2142182514
|
|
NM_001321075.3(DLG4):c.773del (p.Pro258fs)
|
|
|
NM_001329943.3(KIAA0586):c.1362+2T>C
|
rs901508284
|
|
NM_001330288.2(SMARCC2):c.1497-2A>G
|
|
|
NM_001330288.2(SMARCC2):c.3381_3388del (p.Ile1128fs)
|
|
|
NM_001330368.2(C11orf65):c.641-36671del
|
rs2137023331
|
|
NM_001347721.2(DYRK1A):c.931_932del (p.Gln311fs)
|
rs2148619406
|
|
NM_001349338.3(FOXP1):c.1146+1G>C
|
rs1559650552
|
|
NM_001349338.3(FOXP1):c.659dup (p.Gln221fs)
|
rs2049106504
|
|
NM_001351132.2(PEX5):c.846+1G>A
|
|
|
NM_001351169.2(NT5C2):c.312_313del (p.Leu105fs)
|
rs763305896
|
|
NM_001352514.2(HLCS):c.1275_1283delinsTGAGCACT (p.Val427fs)
|
|
|
NM_001352514.2(HLCS):c.569_585delinsTTGCTTGAGATTAAGCCTGAGATTAAGG (p.Pro190_Ser195delinsLeuAlaTer)
|
rs1064796014
|
|
NM_001354712.2(THRB):c.1324A>G (p.Met442Val)
|
rs121918691
|
|
NM_001354712.2(THRB):c.1358C>T (p.Pro453Leu)
|
|
|
NM_001354712.2(THRB):c.803C>G (p.Ala268Gly)
|
rs750905761
|
|
NM_001356.5(DDX3X):c.1582C>T (p.Arg528Cys)
|
rs1064795323
|
|
NM_001356.5(DDX3X):c.514_520dup (p.Asn174fs)
|
|
|
NM_001356.5(DDX3X):c.874C>T (p.Arg292Ter)
|
rs1555953488
|
|
NM_001358530.2(MOCS1):c.124-124_124-123del
|
|
|
NM_001360.3(DHCR7):c.1190C>T (p.Ser397Leu)
|
rs773134475
|
|
NM_001360.3(DHCR7):c.1228G>C (p.Gly410Arg)
|
rs80338862
|
|
NM_001360.3(DHCR7):c.1328G>A (p.Arg443His)
|
rs781687341
|
|
NM_001360.3(DHCR7):c.1348del (p.Arg450fs)
|
rs886042362
|
|
NM_001360.3(DHCR7):c.355del (p.His119fs)
|
rs747827699
|
|
NM_001360.3(DHCR7):c.473G>A (p.Trp158Ter)
|
|
|
NM_001360.3(DHCR7):c.501G>A (p.Trp167Ter)
|
rs1427321619
|
|
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu)
|
rs80338858
|
|
NM_001360.3(DHCR7):c.98+2_98+6del
|
rs1301873688
|
|
NM_001360016.2(G6PD):c.1375C>G (p.Arg459Gly)
|
|
|
NM_001363118.2(SLC52A2):c.131-1G>C
|
rs782305211
|
|
NM_001363711.2(DUOX2):c.345_352del (p.Asp115fs)
|
rs1566978577
|
|
NM_001365088.1(SLC12A6):c.1820del (p.Leu607fs)
|
|
|
NM_001365088.1(SLC12A6):c.1950dup (p.Leu651fs)
|
|
|
NM_001365088.1(SLC12A6):c.571_572dup (p.Tyr192fs)
|
rs775111365
|
|
NM_001365276.2(TNXB):c.11925+2T>A
|
|
|
NM_001365902.3(NFIX):c.772del (p.Gln258fs)
|
rs2016920143
|
|
NM_001365902.3(NFIX):c.818+1G>A
|
rs2016923973
|
|
NM_001366722.1(GRIP1):c.10_13del (p.Val4fs)
|
|
|
NM_001367624.2(ZNF469):c.10332del (p.Arg3445fs)
|
rs764470052
|
|
NM_001367624.2(ZNF469):c.4112dup (p.Pro1373fs)
|
|
|
NM_001367624.2(ZNF469):c.5402del (p.Val1801fs)
|
|
|
NM_001367624.2(ZNF469):c.5613_5622del (p.Arg1871fs)
|
|
|
NM_001367624.2(ZNF469):c.7874_7877dup (p.His2626fs)
|
|
|
NM_001367624.2(ZNF469):c.8350C>T (p.Arg2784Ter)
|
rs1172315984
|
|
NM_001367624.2(ZNF469):c.8428del (p.Ala2810fs)
|
rs2142312393
|
|
NM_001367624.2(ZNF469):c.9268C>T (p.Arg3090Ter)
|
rs764139968
|
|
NM_001368809.2(AMPD2):c.646del (p.Leu216fs)
|
|
|
NM_001370259.2(MEN1):c.1013dup (p.Gln339fs)
|
rs386134245
|
|
NM_001370259.2(MEN1):c.1063del (p.Arg355fs)
|
rs386134246
|
|
NM_001370259.2(MEN1):c.1102del (p.Ala368fs)
|
rs2136110242
|
|
NM_001370259.2(MEN1):c.1174dup (p.Glu392fs)
|
rs386134247
|
|
NM_001370259.2(MEN1):c.1262G>A (p.Cys421Tyr)
|
rs386134249
|
|
NM_001370259.2(MEN1):c.1340T>C (p.Phe447Ser)
|
rs1941604532
|
|
NM_001370259.2(MEN1):c.1564dup (p.Val522fs)
|
rs1941522995
|
|
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn)
|
rs863224527
|
|
NM_001370259.2(MEN1):c.1A>G (p.Met1Val)
|
rs386134250
|
|
NM_001370259.2(MEN1):c.231C>G (p.Tyr77Ter)
|
rs1555166567
|
|
NM_001370259.2(MEN1):c.252dup (p.Ile85fs)
|
rs386134253
|
|
NM_001370259.2(MEN1):c.274del (p.Arg92fs)
|
rs2136186754
|
|
NM_001370259.2(MEN1):c.320dup (p.Arg108fs)
|
|
|
NM_001370259.2(MEN1):c.417C>G (p.His139Gln)
|
rs386134254
|
|
NM_001370259.2(MEN1):c.465_466insAATT (p.Gly156fs)
|
rs386134255
|
|
NM_001370259.2(MEN1):c.526G>C (p.Ala176Pro)
|
rs376872829
|
|
NM_001370259.2(MEN1):c.649_654+2del
|
rs386134258
|
|
NM_001370259.2(MEN1):c.758C>A (p.Ser253Ter)
|
rs386134259
|
|
NM_001370259.2(MEN1):c.955dup (p.Tyr319fs)
|
rs386134261
|
|
NM_001370658.1(BTD):c.-17_-17+3del
|
rs1050514843
|
|
NM_001370658.1(BTD):c.1211G>A (p.Cys404Tyr)
|
rs397514335
|
|
NM_001370658.1(BTD):c.270del (p.Pro91fs)
|
|
|
NM_001370658.1(BTD):c.399G>A (p.Glu133=)
|
rs397514360
|
|
NM_001370658.1(BTD):c.59T>C (p.Leu20Pro)
|
|
|
NM_001370658.1(BTD):c.755G>A (p.Trp252Ter)
|
rs148031701
|
|
NM_001370658.1(BTD):c.920dup (p.Asn307fs)
|
|
|
NM_001371596.2(MFSD8):c.1393C>T (p.Arg465Trp)
|
rs1043984708
|
|
NM_001372.4(DNAH9):c.4918C>T (p.Arg1640Ter)
|
|
|
NM_001374385.1(ATP8B1):c.1210_1213del (p.Leu404fs)
|
rs1912544280
|
|
NM_001374385.1(ATP8B1):c.2007G>A (p.Trp669Ter)
|
rs2122711426
|
|
NM_001374385.1(ATP8B1):c.3261+1G>C
|
rs1568178734
|
|
NM_001374385.1(ATP8B1):c.922G>A (p.Gly308Ser)
|
|
|
NM_001374623.1(PNPLA1):c.205+5G>A
|
rs1561853887
|
|
NM_001374623.1(PNPLA1):c.38del (p.Pro13fs)
|
rs938583000
|
|
NM_001374623.1(PNPLA1):c.736C>T (p.Arg246Ter)
|
|
|
NM_001376.5(DYNC1H1):c.3911T>C (p.Leu1304Pro)
|
|
|
NM_001377.3(DYNC2H1):c.2702+1G>A
|
rs864622358
|
|
NM_001377.3(DYNC2H1):c.8310T>G (p.Tyr2770Ter)
|
rs1437320571
|
|
NM_001378120.1(MBD5):c.1549C>T (p.Gln517Ter)
|
rs1553518593
|
|
NM_001378183.1(PIEZO2):c.2665G>T (p.Glu889Ter)
|
|
|
NM_001378183.1(PIEZO2):c.487G>A (p.Glu163Lys)
|
|
|
NM_001378183.1(PIEZO2):c.6584C>A (p.Ser2195Ter)
|
|
|
NM_001378418.1(TCF20):c.2594C>A (p.Ser865Ter)
|
|
|
NM_001378418.1(TCF20):c.5641dup (p.Ile1881fs)
|
rs2147193284
|
|
NM_001378454.1(ALMS1):c.11547+3A>T
|
rs1271250182
|
|
NM_001378454.1(ALMS1):c.11632C>T (p.Gln3878Ter)
|
rs1675625092
|
|
NM_001378454.1(ALMS1):c.1941del (p.Val648fs)
|
rs1671852270
|
|
NM_001378454.1(ALMS1):c.1966G>T (p.Glu656Ter)
|
rs773971557
|
|
NM_001378454.1(ALMS1):c.281del (p.Pro94fs)
|
rs2104060044
|
|
NM_001378454.1(ALMS1):c.3572del (p.Phe1191fs)
|
rs1558648759
|
|
NM_001378454.1(ALMS1):c.3718_3721del (p.Ser1240fs)
|
rs868776324
|
|
NM_001378454.1(ALMS1):c.4321C>T (p.Gln1441Ter)
|
|
|
NM_001378454.1(ALMS1):c.4347dup (p.Glu1450Ter)
|
rs778728424
|
|
NM_001378454.1(ALMS1):c.4390C>T (p.Gln1464Ter)
|
rs904289501
|
|
NM_001378454.1(ALMS1):c.5002del (p.Arg1668fs)
|
rs1572936092
|
|
NM_001378454.1(ALMS1):c.5274del (p.Tyr1759fs)
|
rs2103785778
|
|
NM_001378454.1(ALMS1):c.7450A>T (p.Lys2484Ter)
|
rs2103794046
|
|
NM_001378454.1(ALMS1):c.8374del (p.Arg2792fs)
|
|
|
NM_001378454.1(ALMS1):c.9151_9152del (p.Cys3052fs)
|
rs1553409851
|
|
NM_001378454.1(ALMS1):c.9782-1269_9859del
|
|
|
NM_001378454.1(ALMS1):c.9782-1271_9845del
|
|
|
NM_001378454.1(ALMS1):c.9919_9923del (p.Ala3307fs)
|
|
|
NM_001378969.1(KCND3):c.848C>G (p.Ser283Cys)
|
|
|
NM_001379210.1(SLC25A26):c.191-1G>T
|
|
|
NM_001379270.1(CNGA1):c.947C>T (p.Ser316Phe)
|
rs62625014
|
|
NM_001379403.1(WDR26):c.1974_1975del (p.Arg658fs)
|
rs1572163072
|
|
NM_001379610.1(SPINK1):c.55+1G>T
|
rs1561606446
|
|
NM_001379610.1(SPINK1):c.93_101del (p.Lys31_Tyr33del)
|
rs767903021
|
|
NM_001384125.1(BLTP1):c.12617-2A>G
|
|
|
NM_001384140.1(PCDH15):c.1401del (p.Gln467fs)
|
rs1193650682
|
|
NM_001384140.1(PCDH15):c.1737C>G (p.Tyr579Ter)
|
rs1057517251
|
|
NM_001384140.1(PCDH15):c.2825del (p.Gly942fs)
|
rs758685587
|
|
NM_001384140.1(PCDH15):c.3495_3496del (p.Arg1165fs)
|
rs2133664431
|
|
NM_001384140.1(PCDH15):c.706-3_717del
|
rs769348776
|
|
NM_001384474.1(LOXHD1):c.1519-2A>T
|
|
|
NM_001384474.1(LOXHD1):c.2641G>A (p.Gly881Arg)
|
|
|
NM_001384474.1(LOXHD1):c.2696G>C (p.Arg899Pro)
|
rs745683775
|
|
NM_001384474.1(LOXHD1):c.2913dup (p.Glu972fs)
|
rs974766727
|
|
NM_001384474.1(LOXHD1):c.3148G>T (p.Glu1050Ter)
|
rs1555679863
|
|
NM_001384474.1(LOXHD1):c.870del (p.Ala291fs)
|
|
|
NM_001384732.1(CPLANE1):c.1122-2A>G
|
|
|
NM_001384732.1(CPLANE1):c.2020C>T (p.Gln674Ter)
|
|
|
NM_001384732.1(CPLANE1):c.2490_2494del (p.Lys830fs)
|
rs926409425
|
|
NM_001384732.1(CPLANE1):c.3056_3059dup (p.Trp1020fs)
|
|
|
NM_001384732.1(CPLANE1):c.5167C>T (p.Gln1723Ter)
|
|
|
NM_001384732.1(CPLANE1):c.7234-2_7234del
|
|
|
NM_001384732.1(CPLANE1):c.8471del (p.Phe2823_Leu2824insTer)
|
|
|
NM_001386140.1(MTTP):c.307A>T (p.Lys103Ter)
|
rs1560614646
|
|
NM_001386393.1(PANK2):c.-21G>T
|
rs780551883
|
|
NM_001386393.1(PANK2):c.1082G>A (p.Ser361Asn)
|
rs137852963
|
|
NM_001386393.1(PANK2):c.740G>C (p.Arg247Pro)
|
rs754521581
|
|
NM_001386393.1(PANK2):c.920_921dup (p.Phe308fs)
|
rs1555788619
|
|
NM_001395413.1(POR):c.784G>T (p.Glu262Ter)
|
|
|
NM_001395413.1(POR):c.821+1G>A
|
|
|
NM_001429.4(EP300):c.598C>T (p.Arg200Ter)
|
rs769721953
|
|
NM_001457.4(FLNB):c.4604G>A (p.Ser1535Asn)
|
|
|
NM_001458.5(FLNC):c.1549+2T>G
|
rs111806457
|
|
NM_001458.5(FLNC):c.7750_7769dup (p.Lys2591fs)
|
rs2128940399
|
|
NM_001482.3(GATM):c.1237C>T (p.Arg413Trp)
|
rs1244824806
|
|
NM_001493.3(GDI1):c.706C>T (p.Gln236Ter)
|
rs2148228335
|
|
NM_001556.3(IKBKB):c.1673del (p.Gly558fs)
|
|
|
NM_001556.3(IKBKB):c.2205+2T>C
|
rs2130736002
|
|
NM_001613.4(ACTA2):c.116G>A (p.Arg39His)
|
rs794728021
|
|
NM_001614.5(ACTG1):c.616C>T (p.Arg206Trp)
|
rs1598548614
|
|
NM_001625.4(AK2):c.330+1G>C
|
rs1639559794
|
|
NM_001625.4(AK2):c.498_499dup (p.Ile167fs)
|
rs1638975235
|
|
NM_001625.4(AK2):c.499-1_499insATGAC (p.Ile167fs)
|
rs1398317449
|
|
NM_001625.4(AK2):c.600C>G (p.Tyr200Ter)
|
rs1638959411
|
|
NM_001673.5(ASNS):c.1174_1175dup (p.Leu393fs)
|
|
|
NM_001673.5(ASNS):c.1283del (p.Tyr428fs)
|
|
|
NM_001673.5(ASNS):c.1578C>A (p.Tyr526Ter)
|
|
|
NM_001673.5(ASNS):c.540del (p.Leu181fs)
|
rs866033169
|
|
NM_001673.5(ASNS):c.750_753del (p.Asp250fs)
|
rs2115654584
|
|
NM_001692.4(ATP6V1B1):c.1002_1004delinsTG (p.Val335fs)
|
|
|
NM_001692.4(ATP6V1B1):c.136_160del (p.Ser46fs)
|
rs1553416787
|
|
NM_001692.4(ATP6V1B1):c.285del (p.Thr96fs)
|
|
|
NM_001692.4(ATP6V1B1):c.448C>T (p.Gln150Ter)
|
|
|
NM_001711.6(BGN):c.75G>A (p.Trp25Ter)
|
|
|
NM_001807.6(CEL):c.1776del (p.Val593fs)
|
rs193922638
|
|
NM_001814.6(CTSC):c.1280A>C (p.Asn427Thr)
|
|
|
NM_001844.5(COL2A1):c.1267G>A (p.Gly423Ser)
|
|
|
NM_001844.5(COL2A1):c.1520G>A (p.Gly507Glu)
|
rs868417981
|
|
NM_001844.5(COL2A1):c.1680+2T>G
|
rs1565681966
|
|
NM_001844.5(COL2A1):c.2910_2918del (p.Pro971_Pro973del)
|
rs2136526614
|
|
NM_001844.5(COL2A1):c.292+2T>A
|
|
|
NM_001844.5(COL2A1):c.3887-2A>G
|
rs2136508967
|
|
NM_001845.6(COL4A1):c.173G>A (p.Gly58Asp)
|
|
|
NM_001845.6(COL4A1):c.2008G>A (p.Gly670Arg)
|
rs1878248687
|
|
NM_001845.6(COL4A1):c.781G>A (p.Gly261Ser)
|
|
|
NM_001846.4(COL4A2):c.4557C>A (p.Tyr1519Ter)
|
rs2139558301
|
|
NM_001846.4(COL4A2):c.520_523delinsACA (p.Leu174fs)
|
|
|
NM_001849.4(COL6A2):c.1053+1G>C
|
rs886043187
|
|
NM_001849.4(COL6A2):c.954G>A (p.Lys318=)
|
rs878854362
|
|
NM_001851.6(COL9A1):c.1719+2T>C
|
|
|
NM_001875.5(CPS1):c.1312G>C (p.Ala438Pro)
|
rs772497399
|
|
NM_001875.5(CPS1):c.1412C>A (p.Thr471Asn)
|
|
|
NM_001875.5(CPS1):c.1549+1G>A
|
|
|
NM_001875.5(CPS1):c.1912C>T (p.Arg638Ter)
|
rs759201450
|
|
NM_001875.5(CPS1):c.2283_2287delinsA (p.Cys761_Glu763delinsTer)
|
rs1699000892
|
|
NM_001875.5(CPS1):c.2407C>G (p.Arg803Gly)
|
rs201716417
|
|
NM_001875.5(CPS1):c.2945G>A (p.Gly982Asp)
|
rs121912595
|
|
NM_001875.5(CPS1):c.306_311dup (p.Asn103_Gly104dup)
|
rs1288123680
|
|
NM_001875.5(CPS1):c.3337-1G>T
|
rs1700452978
|
|
NM_001875.5(CPS1):c.3358_3359del (p.Lys1120fs)
|
rs1700454068
|
|
NM_001875.5(CPS1):c.4101+2T>C
|
rs767575696
|
|
NM_001875.5(CPS1):c.675_676del (p.Cys225fs)
|
|
|
NM_001875.5(CPS1):c.712C>T (p.Arg238Ter)
|
rs761225695
|
|
NM_001875.5(CPS1):c.731del (p.His243_Leu244insTer)
|
rs778346264
|
|
NM_001875.5(CPS1):c.794C>T (p.Pro265Leu)
|
|
|
NM_001876.4(CPT1A):c.1741-1G>A
|
|
|
NM_001879.6(MASP1):c.1498del (p.Asp500fs)
|
|
|
NM_001904.4(CTNNB1):c.1314dup (p.Cys439fs)
|
|
|
NM_001904.4(CTNNB1):c.496-2A>G
|
|
|
NM_001909.5(CTSD):c.268del (p.Gln90fs)
|
rs752612332
|
|
NM_001918.5(DBT):c.1165_1166del (p.Thr388_Thr389insTer)
|
rs1553229661
|
|
NM_001918.5(DBT):c.260AAG[1] (p.Glu88del)
|
rs1217050849
|
|
NM_001918.5(DBT):c.434-1G>C
|
|
|
NM_001927.4(DES):c.985C>T (p.Gln329Ter)
|
rs759320891
|
|
NM_001943.5(DSG2):c.3052dup (p.Glu1018fs)
|
rs1261674855
|
|
NM_001953.5(TYMP):c.1040T>C (p.Leu347Pro)
|
|
|
NM_001953.5(TYMP):c.829dup (p.Leu277fs)
|
|
|
NM_001982.4(ERBB3):c.2938-3_2938-2del
|
|
|
NM_001982.4(ERBB3):c.3202-2A>G
|
|
|
NM_001985.3(ETFB):c.375+1G>T
|
|
|
NM_002055.5(GFAP):c.613G>A (p.Glu205Lys)
|
rs267607507
|
|
NM_002076.4(GNS):c.714G>A (p.Trp238Ter)
|
|
|
NM_002150.3(HPD):c.248del (p.Gly83fs)
|
|
|
NM_002150.3(HPD):c.717del (p.Ile240fs)
|
|
|
NM_002150.3(HPD):c.842T>A (p.Leu281Ter)
|
|
|
NM_002180.3(IGHMBP2):c.1737C>A (p.Phe579Leu)
|
rs368775789
|
|
NM_002185.5(IL7R):c.271_280dup (p.Ile94fs)
|
rs193922640
|
|
NM_002185.5(IL7R):c.437_438del (p.Phe146fs)
|
rs1561423197
|
|
NM_002185.5(IL7R):c.616_617delinsTA (p.Arg206Ter)
|
rs193922643
|
|
NM_002185.5(IL7R):c.644G>T (p.Gly215Val)
|
rs193922645
|
|
NM_002185.5(IL7R):c.788T>A (p.Leu263Ter)
|
|
|
NM_002225.5(IVD):c.148C>T (p.Arg50Cys)
|
rs34695403
|
|
NM_002225.5(IVD):c.491T>C (p.Met164Thr)
|
|
|
NM_002225.5(IVD):c.618del (p.Ile206fs)
|
rs781630355
|
|
NM_002294.3(LAMP2):c.463del (p.Ser155fs)
|
rs193922649
|
|
NM_002303.6(LEPR):c.2880C>G (p.Asn960Lys)
|
rs193922650
|
|
NM_002335.4(LRP5):c.1067C>T (p.Ser356Leu)
|
rs1158745675
|
|
NM_002335.4(LRP5):c.3763+2T>C
|
|
|
NM_002397.5(MEF2C):c.565C>T (p.Arg189Ter)
|
rs587783747
|
|
NM_002427.4(MMP13):c.74del (p.Gly25fs)
|
rs748468302
|
|
NM_002435.3(MPI):c.199dup (p.Ser67fs)
|
|
|
NM_002435.3(MPI):c.497_498del (p.Glu166fs)
|
rs2141200280
|
|
NM_002437.5(MPV17):c.263_265delinsTGT (p.Lys88_Met89delinsMetLeu)
|
rs1679497709
|
|
NM_002437.5(MPV17):c.280G>C (p.Gly94Arg)
|
rs267607257
|
|
NM_002470.4(MYH3):c.1259A>G (p.Gln420Arg)
|
|
|
NM_002470.4(MYH3):c.2776_2779del (p.Arg926fs)
|
rs766768674
|
|
NM_002470.4(MYH3):c.4522C>T (p.Gln1508Ter)
|
rs779530750
|
|
NM_002473.6(MYH9):c.4546G>A (p.Val1516Met)
|
rs727503284
|
|
NM_002474.3(MYH11):c.1470dup (p.Met491fs)
|
rs2151274939
|
|
NM_002474.3(MYH11):c.3757AAG[3] (p.Lys1256del)
|
rs730880147
|
|
NM_002474.3(MYH11):c.4825C>T (p.Arg1609Ter)
|
rs1055960218
|
|
NM_002485.5(NBN):c.1515del (p.Glu505fs)
|
rs759232053
|
|
NM_002485.5(NBN):c.1524_1527del (p.Ser509fs)
|
rs1554558449
|
|
NM_002485.5(NBN):c.156_157del (p.Ser53fs)
|
rs767454740
|
|
NM_002485.5(NBN):c.2071-1G>A
|
rs786201965
|
|
NM_002485.5(NBN):c.317dup (p.Arg107fs)
|
rs745355767
|
|
NM_002485.5(NBN):c.737del (p.Gly246fs)
|
rs1811464751
|
|
NM_002485.5(NBN):c.803del (p.Thr268fs)
|
|
|
NM_002495.4(NDUFS4):c.221del (p.Thr74fs)
|
|
|
NM_002495.4(NDUFS4):c.472_476dup (p.Tyr160fs)
|
rs1740730588
|
|
NM_002495.4(NDUFS4):c.504_511del (p.Arg169fs)
|
|
|
NM_002496.4(NDUFS8):c.372+1G>A
|
|
|
NM_002524.5(NRAS):c.173C>T (p.Thr58Ile)
|
rs2101742052
|
|
NM_002529.4(NTRK1):c.1741del (p.Glu581fs)
|
|
|
NM_002529.4(NTRK1):c.758del (p.Asn253fs)
|
|
|
NM_002615.7(SERPINF1):c.397dup (p.Gln133fs)
|
|
|
NM_002615.7(SERPINF1):c.787-617G>A
|
rs2151212328
|
|
NM_002617.4(PEX10):c.13_28delinsCCGCCAGCACCTGCGCCGCC (p.Ala5fs)
|
|
|
NM_002617.4(PEX10):c.335_338del (p.Pro112fs)
|
rs2100429450
|
|
NM_002617.4(PEX10):c.352C>T (p.Gln118Ter)
|
rs369965266
|
|
NM_002617.4(PEX10):c.587del (p.Thr196fs)
|
|
|
NM_002617.4(PEX10):c.835G>T (p.Glu279Ter)
|
rs62641225
|
|
NM_002617.4(PEX10):c.868dup (p.His290fs)
|
|
|
NM_002637.4(PHKA1):c.3244-155_3618del
|
|
|
NM_002693.3(POLG):c.1606G>T (p.Glu536Ter)
|
|
|
NM_002693.3(POLG):c.3286C>G (p.Arg1096Gly)
|
rs201732356
|
|
NM_002768.5(CHMP1A):c.271C>T (p.Gln91Ter)
|
|
|
NM_002769.5(PRSS1):c.389C>T (p.Thr130Ile)
|
rs193922655
|
|
NM_002769.5(PRSS1):c.398C>G (p.Pro133Arg)
|
rs193922656
|
|
NM_002769.5(PRSS1):c.415T>A (p.Cys139Ser)
|
rs397507440
|
|
NM_002778.4(PSAP):c.1046T>C (p.Leu349Pro)
|
rs121918110
|
|
NM_002834.5(PTPN11):c.1471C>A (p.Pro491Thr)
|
rs397507539
|
|
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg)
|
rs121918470
|
|
NM_002834.5(PTPN11):c.172A>T (p.Asn58Tyr)
|
rs397507505
|
|
NM_002834.5(PTPN11):c.178G>C (p.Gly60Arg)
|
rs397507507
|
|
NM_002834.5(PTPN11):c.206A>T (p.Glu69Val)
|
rs727503380
|
|
NM_002834.5(PTPN11):c.211T>C (p.Phe71Leu)
|
rs397507512
|
|
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly)
|
rs121918465
|
|
NM_002834.5(PTPN11):c.328G>A (p.Glu110Lys)
|
rs397507518
|
|
NM_002834.5(PTPN11):c.854T>A (p.Phe285Tyr)
|
rs121918463
|
|
NM_002838.5(PTPRC):c.100+1del
|
rs1665977328
|
|
NM_002878.4(RAD51D):c.577-2A>G
|
rs1555567649
|
|
NM_002878.4(RAD51D):c.901C>T (p.Gln301Ter)
|
rs1060502959
|
|
NM_002880.4(RAF1):c.775T>C (p.Ser259Pro)
|
rs3730271
|
|
NM_002880.4(RAF1):c.779C>A (p.Thr260Lys)
|
rs869025501
|
|
NM_002880.4(RAF1):c.782C>G (p.Pro261Arg)
|
rs397516828
|
|
NM_002880.4(RAF1):c.788T>A (p.Val263Asp)
|
rs397516830
|
|
NM_002972.4(SBF1):c.2154_2155del (p.Asp719fs)
|
rs1569512576
|
|
NM_003000.3(SDHB):c.479_482del (p.Lys160fs)
|
rs2101521720
|
|
NM_003001.5(SDHC):c.179+1G>C
|
rs1057517818
|
|
NM_003002.4(SDHD):c.267_281del (p.Ala90_Ser94del)
|
rs1865690107
|
|
NM_003002.4(SDHD):c.320T>G (p.Leu107Arg)
|
rs876658477
|
|
NM_003038.5(SLC1A4):c.885dup (p.Lys296fs)
|
|
|
NM_003047.5(SLC9A1):c.1048_1052dup (p.Gly352fs)
|
rs1221107969
|
|
NM_003060.4(SLC22A5):c.-91_22del (p.Met1fs)
|
rs1554085861
|
|
NM_003060.4(SLC22A5):c.1175TGC[2] (p.Leu394del)
|
rs386134215
|
|
NM_003060.4(SLC22A5):c.278C>A (p.Ser93Ter)
|
|
|
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val)
|
rs386134199
|
|
NM_003060.4(SLC22A5):c.700G>C (p.Gly234Arg)
|
|
|
NM_003060.4(SLC22A5):c.791C>G (p.Thr264Arg)
|
rs201262157
|
|
NM_003060.4(SLC22A5):c.825G>A (p.Trp275Ter)
|
rs386134207
|
|
NM_003073.5(SMARCB1):c.796-1G>A
|
rs2146026614
|
|
NM_003073.5(SMARCB1):c.986+2T>C
|
rs2030331202
|
|
NM_003119.4(SPG7):c.376+2T>A
|
|
|
NM_003172.4(SURF1):c.106+1G>C
|
rs863224926
|
|
NM_003172.4(SURF1):c.183_186del (p.Leu62fs)
|
rs1433471292
|
|
NM_003172.4(SURF1):c.22C>T (p.Gln8Ter)
|
rs1836590782
|
|
NM_003172.4(SURF1):c.281dup (p.Leu94fs)
|
rs1588691786
|
|
NM_003172.4(SURF1):c.51_54+1dup
|
rs2119089032
|
|
NM_003172.4(SURF1):c.534_535del (p.Asn178fs)
|
rs1242159511
|
|
NM_003172.4(SURF1):c.631_632del (p.Glu211fs)
|
rs1554768333
|
|
NM_003172.4(SURF1):c.833+1G>C
|
rs782609482
|
|
NM_003227.4(TFR2):c.2038G>T (p.Asp680Tyr)
|
rs1302587036
|
|
NM_003238.6(TGFB2):c.1086+2T>C
|
rs1660010402
|
|
NM_003242.6(TGFBR2):c.1063G>C (p.Ala355Pro)
|
rs104893813
|
|
NM_003242.6(TGFBR2):c.1151A>G (p.Asn384Ser)
|
rs193922660
|
|
NM_003242.6(TGFBR2):c.1540T>C (p.Cys514Arg)
|
rs193922664
|
|
NM_003242.6(TGFBR2):c.1580C>T (p.Ala527Val)
|
rs727503476
|
|
NM_003242.6(TGFBR2):c.310C>T (p.Pro104Ser)
|
rs193922665
|
|
NM_003242.6(TGFBR2):c.902A>G (p.His301Arg)
|
rs863223857
|
|
NM_003322.6(TULP1):c.241_249delinsC (p.Ala81fs)
|
|
|
NM_003366.4(UQCRC2):c.729dup (p.Leu244fs)
|
|
|
NM_003383.5(VLDLR):c.2252-2A>C
|
|
|
NM_003383.5(VLDLR):c.325+1G>A
|
|
|
NM_003480.4(MFAP5):c.59-1G>C
|
|
|
NM_003560.4(PLA2G6):c.1294del (p.His432fs)
|
|
|
NM_003560.4(PLA2G6):c.1427+1G>C
|
rs750939090
|
|
NM_003560.4(PLA2G6):c.1743-2A>G
|
|
|
NM_003560.4(PLA2G6):c.668C>T (p.Pro223Leu)
|
rs776753796
|
|
NM_003560.4(PLA2G6):c.729_740del (p.Ala244_Asn247del)
|
rs587784360
|
|
NM_003590.5(CUL3):c.1377+1G>A
|
|
|
NM_003622.4(PPFIBP1):c.358-2_358-1delinsCC
|
|
|
NM_003630.3(PEX3):c.331+1G>C
|
|
|
NM_003630.3(PEX3):c.685G>T (p.Gly229Ter)
|
|
|
NM_003640.5(ELP1):c.2741C>T (p.Pro914Leu)
|
rs28939712
|
|
NM_003640.5(ELP1):c.3643dup (p.Asp1215fs)
|
rs781333644
|
|
NM_003640.5(ELP1):c.572G>A (p.Trp191Ter)
|
rs1829561209
|
|
NM_003640.5(ELP1):c.740+1G>T
|
|
|
NM_003640.5(ELP1):c.954_958+7del
|
rs2132025021
|
|
NM_003659.4(AGPS):c.1658_1659del (p.Lys553fs)
|
|
|
NM_003664.5(AP3B1):c.1651-2A>T
|
|
|
NM_003664.5(AP3B1):c.1789dup (p.Ile597fs)
|
|
|
NM_003742.4(ABCB11):c.1975C>T (p.Gln659Ter)
|
|
|
NM_003742.4(ABCB11):c.2075+2T>C
|
rs1574445178
|
|
NM_003742.4(ABCB11):c.2095T>C (p.Ser699Pro)
|
rs867525294
|
|
NM_003764.4(STX11):c.822del (p.Cys275fs)
|
|
|
NM_003793.4(CTSF):c.105_129del (p.Ser36fs)
|
|
|
NM_003793.4(CTSF):c.130del (p.Arg44fs)
|
rs1857984449
|
|
NM_003793.4(CTSF):c.167_186del (p.Ala56fs)
|
|
|
NM_003793.4(CTSF):c.264del (p.Cys89fs)
|
|
|
NM_003793.4(CTSF):c.993_1004delinsTGCCTACT (p.Lys331fs)
|
rs2134951897
|
|
NM_003846.3(PEX11B):c.275del (p.Asn92fs)
|
|
|
NM_003907.3(EIF2B5):c.1360C>T (p.Pro454Ser)
|
|
|
NM_003907.3(EIF2B5):c.913A>T (p.Met305Leu)
|
rs200143780
|
|
NM_003982.4(SLC7A7):c.149T>A (p.Met50Lys)
|
rs386833811
|
|
NM_004004.6(GJB2):c.-23G>T
|
rs786204734
|
|
NM_004004.6(GJB2):c.11del (p.Gly4fs)
|
rs1555342014
|
|
NM_004004.6(GJB2):c.592_600delinsCAGTGTTCATGACATTC (p.Val198_Gly200delinsGlnCysSerTer)
|
rs111033335
|
|
NM_004006.3(DMD):c.10224-2_10233delinsTG
|
rs2148280427
|
|
NM_004006.3(DMD):c.10248G>A (p.Trp3416Ter)
|
rs376745644
|
|
NM_004006.3(DMD):c.1956del (p.Asp652fs)
|
rs886043640
|
|
NM_004006.3(DMD):c.2168+2T>C
|
|
|
NM_004006.3(DMD):c.2622G>C (p.Lys874Asn)
|
rs2148630194
|
|
NM_004006.3(DMD):c.2949+2T>C
|
rs2040709857
|
|
NM_004006.3(DMD):c.3037G>T (p.Glu1013Ter)
|
|
|
NM_004006.3(DMD):c.3939_3940delinsCT (p.Met1313_Arg1314delinsIleTer)
|
|
|
NM_004006.3(DMD):c.4351_4352insA (p.Leu1451fs)
|
rs2097987198
|
|
NM_004006.3(DMD):c.4500del (p.Gln1501fs)
|
rs398123959
|
|
NM_004006.3(DMD):c.4846-1G>C
|
rs1603631757
|
|
NM_004006.3(DMD):c.5008_5025+7del
|
|
|
NM_004006.3(DMD):c.5104_5105del (p.Leu1702fs)
|
rs2147253222
|
|
NM_004006.3(DMD):c.5448+1G>T
|
rs1064796764
|
|
NM_004006.3(DMD):c.5476G>T (p.Glu1826Ter)
|
rs140913030
|
|
NM_004006.3(DMD):c.6474del (p.Val2159fs)
|
rs2095370524
|
|
NM_004006.3(DMD):c.6823G>T (p.Gly2275Ter)
|
rs2094828872
|
|
NM_004006.3(DMD):c.7170C>G (p.Tyr2390Ter)
|
rs770183212
|
|
NM_004006.3(DMD):c.7395del (p.Met2466fs)
|
rs2149245252
|
|
NM_004006.3(DMD):c.8027+2T>A
|
rs863225010
|
|
NM_004006.3(DMD):c.8196del (p.Glu2733fs)
|
rs1556764753
|
|
NM_004006.3(DMD):c.8596_8600del (p.Leu2866fs)
|
rs2068038543
|
|
NM_004006.3(DMD):c.9461T>A (p.Leu3154Ter)
|
rs2044442536
|
|
NM_004017.3(DMD):c.1019+700_1019+704del
|
rs2148280593
|
|
NM_004093.4(EFNB2):c.219T>G (p.Tyr73Ter)
|
rs1879182475
|
|
NM_004115.4(FGF14):c.408+1G>A
|
|
|
NM_004130.4(GYG1):c.7+2T>C
|
|
|
NM_004168.4(SDHA):c.456+1G>A
|
rs1579384604
|
|
NM_004260.4(RECQL4):c.2585C>A (p.Ser862Ter)
|
|
|
NM_004318.4(ASPH):c.1695C>A (p.Tyr565Ter)
|
rs781508063
|
|
NM_004329.3(BMPR1A):c.1221C>G (p.Tyr407Ter)
|
rs1131691181
|
|
NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg)
|
rs121913357
|
|
NM_004333.6(BRAF):c.1454T>C (p.Leu485Ser)
|
rs397507475
|
|
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu)
|
rs180177037
|
|
NM_004333.6(BRAF):c.784C>A (p.Gln262Lys)
|
rs397507470
|
|
NM_004341.5(CAD):c.2378_2379del (p.Thr793fs)
|
|
|
NM_004360.5(CDH1):c.103G>T (p.Glu35Ter)
|
rs1597838625
|
|
NM_004360.5(CDH1):c.1895_1896del (p.His632fs)
|
rs1060501224
|
|
NM_004360.5(CDH1):c.2287G>T (p.Glu763Ter)
|
rs587780787
|
|
NM_004360.5(CDH1):c.2386del (p.Arg796fs)
|
rs1375617541
|
|
NM_004360.5(CDH1):c.2430del (p.Phe810fs)
|
rs786203752
|
|
NM_004360.5(CDH1):c.321C>G (p.Tyr107Ter)
|
rs765929630
|
|
NM_004360.5(CDH1):c.531+1G>A
|
rs1131690808
|
|
NM_004366.6(CLCN2):c.1855G>T (p.Glu619Ter)
|
|
|
NM_004369.4(COL6A3):c.6157-1G>A
|
|
|
NM_004369.4(COL6A3):c.6424C>T (p.Arg2142Ter)
|
|
|
NM_004415.4(DSP):c.1381ATT[1] (p.Ile462del)
|
rs193922668
|
|
NM_004415.4(DSP):c.1825C>T (p.Gln609Ter)
|
rs1561690319
|
|
NM_004415.4(DSP):c.2821C>T (p.Arg941Ter)
|
rs730880082
|
|
NM_004415.4(DSP):c.3165del (p.Asn1055fs)
|
rs2113691213
|
|
NM_004415.4(DSP):c.6273del (p.Ala2092fs)
|
rs794728146
|
|
NM_004415.4(DSP):c.7372_7373del (p.Lys2458fs)
|
rs1581823931
|
|
NM_004415.4(DSP):c.8193C>G (p.Tyr2731Ter)
|
rs2113704410
|
|
NM_004429.5(EFNB1):c.457_458dup (p.Arg154fs)
|
rs2080471528
|
|
NM_004444.5(EPHB4):c.1990G>A (p.Glu664Lys)
|
rs1562969219
|
|
NM_004453.4(ETFDH):c.1255_1258del (p.Thr419fs)
|
rs1480647123
|
|
NM_004453.4(ETFDH):c.1570_1571del (p.Leu524fs)
|
rs727503919
|
|
NM_004453.4(ETFDH):c.1813dup (p.Val605fs)
|
|
|
NM_004453.4(ETFDH):c.1831G>A (p.Gly611Arg)
|
|
|
NM_004482.4(GALNT3):c.516-2A>G
|
|
|
NM_004525.3(LRP2):c.2006del (p.Gly669fs)
|
|
|
NM_004586.3(RPS6KA3):c.212T>G (p.Leu71Ter)
|
rs2068650679
|
|
NM_004606.5(TAF1):c.3407-1G>A
|
|
|
NM_004612.4(TGFBR1):c.700T>C (p.Phe234Leu)
|
rs1060502046
|
|
NM_004614.5(TK2):c.71_72insTT (p.Pro25fs)
|
rs2144497920
|
|
NM_004628.5(XPC):c.1660C>T (p.Gln554Ter)
|
rs1696002966
|
|
NM_004628.5(XPC):c.1754A>G (p.Tyr585Cys)
|
|
|
NM_004628.5(XPC):c.2595C>A (p.Tyr865Ter)
|
rs370126012
|
|
NM_004629.2(FANCG):c.1465_1467delinsAA (p.Glu489fs)
|
|
|
NM_004646.4(NPHS1):c.1020del (p.Ser341fs)
|
rs1555763372
|
|
NM_004646.4(NPHS1):c.1275del (p.Lys426fs)
|
rs386833876
|
|
NM_004646.4(NPHS1):c.1307_1308dup (p.Val437fs)
|
rs386833878
|
|
NM_004646.4(NPHS1):c.1315+1G>A
|
|
|
NM_004646.4(NPHS1):c.1939G>T (p.Glu647Ter)
|
|
|
NM_004646.4(NPHS1):c.2132G>A (p.Arg711His)
|
|
|
NM_004646.4(NPHS1):c.2387del (p.Gly796fs)
|
rs1568453378
|
|
NM_004646.4(NPHS1):c.2541del (p.Lys848fs)
|
rs1555761997
|
|
NM_004646.4(NPHS1):c.2663G>A (p.Arg888Lys)
|
rs778951863
|
|
NM_004646.4(NPHS1):c.2783C>A (p.Ser928Ter)
|
rs386833926
|
|
NM_004646.4(NPHS1):c.2930A>G (p.Tyr977Cys)
|
rs2146816353
|
|
NM_004646.4(NPHS1):c.3549C>A (p.Tyr1183Ter)
|
rs767887213
|
|
NM_004655.4(AXIN2):c.1060-2A>G
|
rs2144478938
|
|
NM_004744.5(LRAT):c.40_41delinsTT (p.Glu14Leu)
|
|
|
NM_004750.5(CRLF1):c.-131_21del (p.Met1fs)
|
|
|
NM_004750.5(CRLF1):c.1A>G (p.Met1Val)
|
rs2145339928
|
|
NM_004750.5(CRLF1):c.4_10del (p.Pro2fs)
|
|
|
NM_004752.4(GCM2):c.90+2T>G
|
|
|
NM_004820.5(CYP7B1):c.961G>A (p.Glu321Lys)
|
rs866340497
|
|
NM_004937.3(CTNS):c.382C>T (p.Gln128Ter)
|
rs550254092
|
|
NM_004937.3(CTNS):c.423del (p.Phe142fs)
|
rs1567709909
|
|
NM_004937.3(CTNS):c.561+1del
|
rs786204667
|
|
NM_004937.3(CTNS):c.565C>T (p.Gln189Ter)
|
rs1597654770
|
|
NM_004937.3(CTNS):c.61_61+2del
|
rs2075652654
|
|
NM_004937.3(CTNS):c.839A>G (p.Lys280Arg)
|
rs2150925451
|
|
NM_004937.3(CTNS):c.850C>T (p.Gln284Ter)
|
|
|
NM_004937.3(CTNS):c.870C>G (p.Tyr290Ter)
|
rs776842972
|
|
NM_004985.5(KRAS):c.108A>G (p.Ile36Met)
|
rs727503109
|
|
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu)
|
rs193929331
|
|
NM_004985.5(KRAS):c.20T>A (p.Val7Glu)
|
|
|
NM_004999.4(MYO6):c.2416+1G>A
|
|
|
NM_005004.4(NDUFB8):c.358del (p.Ser120fs)
|
rs2133710956
|
|
NM_005033.3(EXOSC9):c.481C>T (p.Arg161Ter)
|
rs372318863
|
|
NM_005050.4(ABCD4):c.1118+1G>A
|
|
|
NM_005050.4(ABCD4):c.1295G>A (p.Arg432Gln)
|
rs745414252
|
|
NM_005050.4(ABCD4):c.1588C>T (p.Gln530Ter)
|
rs767795583
|
|
NM_005050.4(ABCD4):c.1597_1598del (p.Ser533fs)
|
|
|
NM_005055.4(RAPSN):c.-199C>G
|
rs886037842
|
|
NM_005055.5(RAPSN):c.370C>T (p.Gln124Ter)
|
rs1479498379
|
|
NM_005068.3(SIM1):c.1438G>T (p.Gly480Ter)
|
rs772202157
|
|
NM_005085.4(NUP214):c.4828G>T (p.Glu1610Ter)
|
|
|
NM_005094.4(SLC27A4):c.-6-2A>G
|
rs2131249868
|
|
NM_005094.4(SLC27A4):c.1463-2A>C
|
|
|
NM_005120.3(MED12):c.2541+1G>A
|
|
|
NM_005121.3(MED13):c.1036dup (p.Val346fs)
|
rs2143672313
|
|
NM_005141.5(FGB):c.498_512del (p.Asn167_Glu171del)
|
|
|
NM_005159.5(ACTC1):c.67T>C (p.Phe23Leu)
|
rs193922681
|
|
NM_005199.5(CHRNG):c.794T>G (p.Leu265Arg)
|
|
|
NM_005236.3(ERCC4):c.1214-1G>A
|
|
|
NM_005236.3(ERCC4):c.303C>A (p.Tyr101Ter)
|
|
|
NM_005247.4(FGF3):c.431del (p.Arg144fs)
|
rs2119905910
|
|
NM_005249.5(FOXG1):c.619A>T (p.Ile207Phe)
|
rs2138661244
|
|
NM_005257.6(GATA6):c.239_245del (p.Leu80fs)
|
|
|
NM_005269.3(GLI1):c.1796del (p.Gly599fs)
|
rs758888293
|
|
NM_005324.5(H3-3B):c.52C>T (p.Arg18Cys)
|
|
|
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys)
|
rs28933406
|
|
NM_005343.4(HRAS):c.183G>T (p.Gln61His)
|
rs121913496
|
|
NM_005343.4(HRAS):c.34G>C (p.Gly12Arg)
|
rs104894229
|
|
NM_005356.5(LCK):c.277C>T (p.Gln93Ter)
|
|
|
NM_005357.4(LIPE):c.3203_3221del (p.Val1068fs)
|
rs587777699
|
|
NM_005359.6(SMAD4):c.1271dup (p.Asp424fs)
|
rs1555686616
|
|
NM_005359.6(SMAD4):c.1392del (p.Val465fs)
|
rs1910480814
|
|
NM_005359.6(SMAD4):c.297G>A (p.Trp99Ter)
|
rs876660079
|
|
NM_005359.6(SMAD4):c.502G>T (p.Gly168Ter)
|
rs1909795990
|
|
NM_005359.6(SMAD4):c.787+2T>C
|
rs1909895611
|
|
NM_005359.6(SMAD4):c.894del (p.Gly299fs)
|
rs2144429392
|
|
NM_005373.3(MPL):c.1145del (p.Pro382fs)
|
|
|
NM_005373.3(MPL):c.1653+2T>C
|
|
|
NM_005373.3(MPL):c.189C>A (p.Tyr63Ter)
|
rs1373623383
|
|
NM_005476.7(GNE):c.1542dup (p.Asp515fs)
|
|
|
NM_005476.7(GNE):c.1798G>A (p.Ala600Thr)
|
rs387906347
|
|
NM_005476.7(GNE):c.2086G>A (p.Val696Met)
|
rs121908627
|
|
NM_005502.4(ABCA1):c.3103+1G>C
|
|
|
NM_005502.4(ABCA1):c.3215G>A (p.Trp1072Ter)
|
rs1450125094
|
|
NM_005529.7(HSPG2):c.12900-2A>G
|
|
|
NM_005559.4(LAMA1):c.7195+2T>A
|
|
|
NM_005562.3(LAMC2):c.1066+1G>T
|
rs1558092158
|
|
NM_005562.3(LAMC2):c.2006_2012del (p.Ile669fs)
|
rs778012079
|
|
NM_005562.3(LAMC2):c.2881C>T (p.Gln961Ter)
|
rs1660058817
|
|
NM_005609.4(PYGM):c.1044_1050dup (p.Met351fs)
|
|
|
NM_005609.4(PYGM):c.1797del (p.Phe599fs)
|
rs769960481
|
|
NM_005609.4(PYGM):c.21_28dup (p.Lys10fs)
|
rs770037766
|
|
NM_005619.5(RTN2):c.938dup (p.Thr314fs)
|
rs748397131
|
|
NM_005629.4(SLC6A8):c.101_102insGC (p.Asp35fs)
|
rs2148358474
|
|
NM_005629.4(SLC6A8):c.1254+1G>A
|
rs1557045333
|
|
NM_005629.4(SLC6A8):c.82del (p.Asp28fs)
|
|
|
NM_005629.4(SLC6A8):c.97_98del (p.Lys33fs)
|
rs2148358457
|
|
NM_005633.4(SOS1):c.2197A>T (p.Ile733Phe)
|
rs574088829
|
|
NM_005654.6(NR2F1):c.256T>C (p.Cys86Arg)
|
rs1753210329
|
|
NM_005676.5(RBM10):c.331C>T (p.Gln111Ter)
|
|
|
NM_005677.4(COLQ):c.870_871del (p.Cys291fs)
|
|
|
NM_005726.6(TSFM):c.551del (p.Asp184fs)
|
|
|
NM_005732.4(RAD50):c.1174_1177del (p.Gln392fs)
|
rs1554098250
|
|
NM_005732.4(RAD50):c.2980A>T (p.Lys994Ter)
|
rs876660364
|
|
NM_005862.3(STAG1):c.2557dup (p.Glu853fs)
|
rs1560062082
|
|
NM_005902.4(SMAD3):c.532+1G>C
|
rs2140295070
|
|
NM_005902.4(SMAD3):c.754C>T (p.Gln252Ter)
|
rs1566999458
|
|
NM_005908.4(MANBA):c.1540_1541del (p.Val514fs)
|
rs775574131
|
|
NM_005908.4(MANBA):c.1753C>T (p.Arg585Ter)
|
|
|
NM_005908.4(MANBA):c.273-1G>A
|
|
|
NM_005908.4(MANBA):c.916del (p.Leu306fs)
|
|
|
NM_005909.5(MAP1B):c.3362dup (p.Ser1122fs)
|
|
|
NM_005912.3(MC4R):c.538T>C (p.Ser180Pro)
|
rs193922685
|
|
NM_005932.4(MIPEP):c.1848+2T>G
|
|
|
NM_005956.4(MTHFD1):c.1006C>T (p.Arg336Ter)
|
rs920392170
|
|
NM_005956.4(MTHFD1):c.1807G>T (p.Glu603Ter)
|
|
|
NM_005956.4(MTHFD1):c.2529del (p.Glu844fs)
|
rs2140987866
|
|
NM_005956.4(MTHFD1):c.2629C>T (p.Gln877Ter)
|
|
|
NM_005993.4(TBCD):c.1150_1171del
|
rs751754677
|
|
NM_006009.4(TUBA1A):c.1225G>T (p.Val409Phe)
|
|
|
NM_006019.4(TCIRG1):c.1024G>T (p.Glu342Ter)
|
rs1159666762
|
|
NM_006031.6(PCNT):c.9393+1G>A
|
|
|
NM_006059.4(LAMC3):c.2819del (p.Pro940fs)
|
rs1170064033
|
|
NM_006073.4(TRDN):c.502G>T (p.Glu168Ter)
|
rs545032318
|
|
NM_006073.4(TRDN):c.550+1_550+2insA
|
|
|
NM_006086.4(TUBB3):c.689C>T (p.Ser230Leu)
|
rs886041459
|
|
NM_006118.4(HAX1):c.556+1G>A
|
|
|
NM_006118.4(HAX1):c.601C>T (p.Gln201Ter)
|
|
|
NM_006129.5(BMP1):c.584del (p.Gly195fs)
|
|
|
NM_006218.4(PIK3CA):c.277C>T (p.Arg93Trp)
|
rs1724342112
|
|
NM_006261.5(PROP1):c.46C>T (p.Arg16Ter)
|
rs140016178
|
|
NM_006282.5(STK4):c.395C>A (p.Ser132Ter)
|
|
|
NM_006282.5(STK4):c.831+2T>C
|
|
|
NM_006306.4(SMC1A):c.277_288del (p.Thr93_Arg96del)
|
|
|
NM_006346.4(PIBF1):c.1731-1G>A
|
|
|
NM_006348.5(COG5):c.30_36del (p.Ala11fs)
|
rs2129184409
|
|
NM_006371.5(CRTAP):c.3G>A (p.Met1Ile)
|
rs72659357
|
|
NM_006371.5(CRTAP):c.41_59dup (p.Leu21fs)
|
|
|
NM_006397.3(RNASEH2A):c.206dup (p.Thr70fs)
|
rs549586181
|
|
NM_006432.5(NPC2):c.279dup (p.Lys94Ter)
|
rs1376058648
|
|
NM_006432.5(NPC2):c.3G>C (p.Met1Ile)
|
rs483352893
|
|
NM_006493.4(CLN5):c.144dup (p.Ser49fs)
|
rs386833970
|
|
NM_006493.4(CLN5):c.174-2A>G
|
rs2034241585
|
|
NM_006493.4(CLN5):c.377T>G (p.Leu126Ter)
|
rs386833972
|
|
NM_006493.4(CLN5):c.777_778del (p.Phe260fs)
|
rs786204644
|
|
NM_006494.4(ERF):c.972C>G (p.Tyr324Ter)
|
|
|
NM_006516.4(SLC2A1):c.458G>C (p.Arg153Pro)
|
rs794727642
|
|
NM_006517.5(SLC16A2):c.840C>A (p.Tyr280Ter)
|
rs2147870607
|
|
NM_006565.4(CTCF):c.1016G>A (p.Arg339Gln)
|
rs1567610917
|
|
NM_006618.5(KDM5B):c.2945+1G>A
|
rs2102232815
|
|
NM_006623.4(PHGDH):c.1394del (p.Leu465fs)
|
|
|
NM_006623.4(PHGDH):c.2T>C (p.Met1Thr)
|
rs951372478
|
|
NM_006623.4(PHGDH):c.412-1G>C
|
rs1651455730
|
|
NM_006623.4(PHGDH):c.643+1G>A
|
|
|
NM_006642.5(SDCCAG8):c.1356+1G>C
|
rs2147782314
|
|
NM_006642.5(SDCCAG8):c.1748del (p.Asn583fs)
|
|
|
NM_006642.5(SDCCAG8):c.567G>A (p.Trp189Ter)
|
rs797045948
|
|
NM_006642.5(SDCCAG8):c.865_872dup (p.Val292fs)
|
|
|
NM_006767.4(LZTR1):c.1751dup (p.Ser585fs)
|
rs1569157346
|
|
NM_006767.4(LZTR1):c.27dup (p.Gln10fs)
|
rs587777613
|
|
NM_006767.4(LZTR1):c.372_385del (p.Val125fs)
|
rs1924439391
|
|
NM_006785.4(MALT1):c.1612_1615del (p.Lys538fs)
|
rs2144484602
|
|
NM_006796.3(AFG3L2):c.1875G>A (p.Met625Ile)
|
rs727502823
|
|
NM_006831.3(CLP1):c.55C>T (p.Arg19Ter)
|
|
|
NM_006892.4(DNMT3B):c.2441A>G (p.His814Arg)
|
|
|
NM_006907.4(PYCR1):c.151A>T (p.Lys51Ter)
|
|
|
NM_006907.4(PYCR1):c.575del (p.Gly192fs)
|
|
|
NM_006929.5(SKIC2):c.1065-2A>G
|
|
|
NM_006929.5(SKIC2):c.1207del (p.Leu403fs)
|
|
|
NM_006929.5(SKIC2):c.1637del (p.Gly546fs)
|
rs1772636752
|
|
NM_006929.5(SKIC2):c.1808del (p.Phe603fs)
|
|
|
NM_006929.5(SKIC2):c.3134C>A (p.Ser1045Ter)
|
rs200271795
|
|
NM_006929.5(SKIC2):c.3160G>T (p.Glu1054Ter)
|
|
|
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)
|
|
|
NM_006941.4(SOX10):c.1086dup (p.Pro363fs)
|
|
|
NM_006946.4(SPTBN2):c.1309C>T (p.Arg437Trp)
|
rs1941669517
|
|
NM_006949.4(STXBP2):c.247-2A>C
|
rs921624651
|
|
NM_007074.4(CORO1A):c.1278_1279insCC (p.Ser427fs)
|
rs2151063606
|
|
NM_007103.4(NDUFV1):c.-8_16del (p.Met1_Arg6del)
|
|
|
NM_007103.4(NDUFV1):c.155+1G>A
|
rs1565224383
|
|
NM_007113.4(TCHH):c.699del (p.Gln234fs)
|
|
|
NM_007118.4(TRIO):c.3447+2T>C
|
|
|
NM_007118.4(TRIO):c.4394A>G (p.Asn1465Ser)
|
rs1747669042
|
|
NM_007129.5(ZIC2):c.1004del (p.Cys335fs)
|
|
|
NM_007194.4(CHEK2):c.1096-1G>C
|
rs1060502716
|
|
NM_007194.4(CHEK2):c.1238_1246delinsAGGAG (p.Leu413_Ile416delinsTer)
|
rs1555913645
|
|
NM_007194.4(CHEK2):c.1238del (p.Ser412_Leu413insTer)
|
rs765664259
|
|
NM_007194.4(CHEK2):c.1259+1G>A
|
rs121908707
|
|
NM_007194.4(CHEK2):c.1279_1280insC (p.Phe427fs)
|
rs1569112324
|
|
NM_007194.4(CHEK2):c.14_20del (p.Ser5fs)
|
rs757016287
|
|
NM_007194.4(CHEK2):c.31dup (p.Gln11fs)
|
rs1555932913
|
|
NM_007194.4(CHEK2):c.320-1G>T
|
rs864622613
|
|
NM_007194.4(CHEK2):c.846+4_846+7del
|
rs764884641
|
|
NM_007194.4(CHEK2):c.860del (p.Lys287fs)
|
rs886039731
|
|
NM_007194.4(CHEK2):c.89_90insAG (p.Ser31fs)
|
rs2146152668
|
|
NM_007194.4(CHEK2):c.908+1G>C
|
rs587781699
|
|
NM_007194.4(CHEK2):c.908+1G>T
|
rs587781699
|
|
NM_007194.4(CHEK2):c.908+2T>C
|
rs1601752066
|
|
NM_007215.4(POLG2):c.1352G>A (p.Gly451Glu)
|
rs104894632
|
|
NM_007215.4(POLG2):c.420del (p.Asp142fs)
|
rs1555669548
|
|
NM_007289.4(MME):c.1400dup (p.Arg468fs)
|
rs751149568
|
|
NM_007294.4(BRCA1):c.1044T>A (p.Cys348Ter)
|
rs886037985
|
|
NM_007294.4(BRCA1):c.1091_1092del (p.Pro364fs)
|
rs1555592526
|
|
NM_007294.4(BRCA1):c.1292del (p.Leu431fs)
|
rs80357528
|
|
NM_007294.4(BRCA1):c.131_132del (p.Phe43_Cys44insTer)
|
rs1597911705
|
|
NM_007294.4(BRCA1):c.134+1G>C
|
rs80358043
|
|
NM_007294.4(BRCA1):c.1363_1364insT (p.Asn455fs)
|
rs1555591850
|
|
NM_007294.4(BRCA1):c.1387_1390delinsGAAAG (p.Lys463fs)
|
rs80357770
|
|
NM_007294.4(BRCA1):c.139T>G (p.Cys47Gly)
|
rs80357370
|
|
NM_007294.4(BRCA1):c.1468_1513dup (p.Lys505delinsThrThrAspAsnThrArgAlaSerProHisLysTer)
|
rs2154441580
|
|
NM_007294.4(BRCA1):c.1604del (p.Gly535fs)
|
rs2154434302
|
|
NM_007294.4(BRCA1):c.1670_1673del (p.Thr557fs)
|
rs1555591390
|
|
NM_007294.4(BRCA1):c.1670_1674del (p.Thr557fs)
|
rs2053902770
|
|
NM_007294.4(BRCA1):c.181T>C (p.Cys61Arg)
|
rs28897672
|
|
NM_007294.4(BRCA1):c.1825_1829del (p.Asn609fs)
|
rs1555591170
|
|
NM_007294.4(BRCA1):c.2028_2029del (p.Gly677fs)
|
rs397508931
|
|
NM_007294.4(BRCA1):c.203T>G (p.Ile68Arg)
|
rs80357116
|
|
NM_007294.4(BRCA1):c.2235dup (p.Asp746fs)
|
rs2053797991
|
|
NM_007294.4(BRCA1):c.2295del (p.Ser766fs)
|
rs1567796243
|
|
NM_007294.4(BRCA1):c.2346del (p.Ser782fs)
|
rs2053777106
|
|
NM_007294.4(BRCA1):c.2346dup (p.Ile783fs)
|
rs886040027
|
|
NM_007294.4(BRCA1):c.2429dup (p.Asn810fs)
|
rs397508967
|
|
NM_007294.4(BRCA1):c.2620_2621del (p.Asn874fs)
|
rs587781423
|
|
NM_007294.4(BRCA1):c.2624del (p.Pro875fs)
|
rs2154368003
|
|
NM_007294.4(BRCA1):c.2693_2694dup (p.Val899fs)
|
rs80357549
|
|
NM_007294.4(BRCA1):c.2728del (p.Gln910fs)
|
rs397509005
|
|
NM_007294.4(BRCA1):c.2748del (p.Asn916fs)
|
rs398122667
|
|
NM_007294.4(BRCA1):c.2806_2807del (p.Lys935_Asp936insTer)
|
rs886038004
|
|
NM_007294.4(BRCA1):c.2861dup (p.Ser955fs)
|
rs886040079
|
|
NM_007294.4(BRCA1):c.2959A>T (p.Lys987Ter)
|
rs878854941
|
|
NM_007294.4(BRCA1):c.2990_3971dup (p.Met1324delinsIleSerAlaArgGlyLysLeuTer)
|
rs2053492284
|
|
NM_007294.4(BRCA1):c.3255_3256del (p.Arg1085fs)
|
rs2053618983
|
|
NM_007294.4(BRCA1):c.3289dup (p.Ser1097fs)
|
rs80357686
|
|
NM_007294.4(BRCA1):c.3475dup (p.Ile1159fs)
|
rs1555587638
|
|
NM_007294.4(BRCA1):c.3705_3747dup (p.Glu1250delinsGlnTyrThrPheSerValTyrTer)
|
rs797044631
|
|
NM_007294.4(BRCA1):c.3761_3764del (p.Lys1254fs)
|
rs2053528623
|
|
NM_007294.4(BRCA1):c.379del (p.Ser127fs)
|
rs1555596373
|
|
NM_007294.4(BRCA1):c.3865del (p.Thr1289fs)
|
rs2053509532
|
|
NM_007294.4(BRCA1):c.3964A>T (p.Lys1322Ter)
|
rs80357343
|
|
NM_007294.4(BRCA1):c.4008dup (p.Asp1337Ter)
|
rs2053486046
|
|
NM_007294.4(BRCA1):c.4116_4117insTT (p.Glu1373fs)
|
rs398122682
|
|
NM_007294.4(BRCA1):c.4185+1G>C
|
rs80358076
|
|
NM_007294.4(BRCA1):c.4185+2_4185+21del
|
rs2154249606
|
|
NM_007294.4(BRCA1):c.4185G>C (p.Gln1395His)
|
rs80356857
|
|
NM_007294.4(BRCA1):c.4211del (p.Leu1404fs)
|
rs1555584251
|
|
NM_007294.4(BRCA1):c.4386dup (p.Tyr1463fs)
|
rs786204267
|
|
NM_007294.4(BRCA1):c.4396dup (p.Ser1466fs)
|
rs397509170
|
|
NM_007294.4(BRCA1):c.441+1G>C
|
|
|
NM_007294.4(BRCA1):c.442C>T (p.Gln148Ter)
|
rs876659614
|
|
NM_007294.4(BRCA1):c.4534del (p.Ser1512fs)
|
rs1567778176
|
|
NM_007294.4(BRCA1):c.4623_4632del (p.Glu1541fs)
|
rs1567777811
|
|
NM_007294.4(BRCA1):c.4643del (p.Thr1548fs)
|
rs2153993720
|
|
NM_007294.4(BRCA1):c.4781del (p.Pro1594fs)
|
rs2052409873
|
|
NM_007294.4(BRCA1):c.4834_4835del (p.Gln1612fs)
|
rs1555580840
|
|
NM_007294.4(BRCA1):c.4870_4871insA (p.Gly1624fs)
|
rs2052392843
|
|
NM_007294.4(BRCA1):c.4957G>T (p.Val1653Leu)
|
rs80357261
|
|
NM_007294.4(BRCA1):c.4986+5G>A
|
rs397509211
|
|
NM_007294.4(BRCA1):c.5003T>C (p.Phe1668Ser)
|
rs1567772408
|
|
NM_007294.4(BRCA1):c.5089_5092del (p.Cys1697fs)
|
rs80357710
|
|
NM_007294.4(BRCA1):c.5092G>T (p.Glu1698Ter)
|
rs2051929740
|
|
NM_007294.4(BRCA1):c.5096G>C (p.Arg1699Pro)
|
rs41293459
|
|
NM_007294.4(BRCA1):c.5098A>G (p.Thr1700Ala)
|
rs397509227
|
|
NM_007294.4(BRCA1):c.5138T>C (p.Val1713Ala)
|
rs80357132
|
|
NM_007294.4(BRCA1):c.5143A>T (p.Ser1715Cys)
|
rs80357222
|
|
NM_007294.4(BRCA1):c.5152+5G>T
|
rs80358165
|
|
NM_007294.4(BRCA1):c.5152T>G (p.Trp1718Gly)
|
rs1567769155
|
|
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe)
|
rs80357104
|
|
NM_007294.4(BRCA1):c.5207T>G (p.Val1736Gly)
|
rs45553935
|
|
NM_007294.4(BRCA1):c.5232_5238delinsGTCCAAAGCGAG (p.Asn1745fs)
|
rs483353071
|
|
NM_007294.4(BRCA1):c.5243G>A (p.Gly1748Asp)
|
rs397509243
|
|
NM_007294.4(BRCA1):c.5282T>C (p.Phe1761Ser)
|
rs80356905
|
|
NM_007294.4(BRCA1):c.5332G>A (p.Asp1778Asn)
|
rs80357112
|
|
NM_007294.4(BRCA1):c.5357T>C (p.Leu1786Pro)
|
rs398122697
|
|
NM_007294.4(BRCA1):c.547+1G>A
|
rs80358030
|
|
NM_007294.4(BRCA1):c.547+1G>C
|
rs80358030
|
|
NM_007294.4(BRCA1):c.5502_5503del (p.Glu1836fs)
|
|
|
NM_007294.4(BRCA1):c.5511G>T (p.Trp1837Cys)
|
rs80356914
|
|
NM_007294.4(BRCA1):c.5517_5518insC (p.Asp1840fs)
|
rs1597796956
|
|
NM_007294.4(BRCA1):c.5527G>C (p.Ala1843Pro)
|
rs80357019
|
|
NM_007294.4(BRCA1):c.5557T>A (p.Tyr1853Asn)
|
rs2050860958
|
|
NM_007294.4(BRCA1):c.5569del (p.Gln1857fs)
|
rs886039675
|
|
NM_007294.4(BRCA1):c.614T>G (p.Leu205Ter)
|
rs1555593598
|
|
NM_007294.4(BRCA1):c.65T>C (p.Leu22Ser)
|
rs80357438
|
|
NM_007294.4(BRCA1):c.671-2A>G
|
rs80358108
|
|
NM_007294.4(BRCA1):c.70T>C (p.Cys24Arg)
|
rs80357410
|
|
NM_007294.4(BRCA1):c.933del (p.Gly312fs)
|
rs1135401839
|
|
NM_007294.4(BRCA1):c.942_956delinsCTTACTTC (p.Arg315fs)
|
rs1555592766
|
|
NM_007363.5(NONO):c.276_288del (p.Lys92fs)
|
|
|
NM_007363.5(NONO):c.322_348+280del
|
rs2148033540
|
|
NM_007373.4(SHOC2):c.517A>G (p.Met173Val)
|
rs1057518206
|
|
NM_012203.2(GRHPR):c.206_214+11del
|
|
|
NM_012203.2(GRHPR):c.603dup (p.Thr202fs)
|
|
|
NM_012210.4(TRIM32):c.458_465del (p.Leu153fs)
|
rs749696299
|
|
NM_012210.4(TRIM32):c.73G>T (p.Glu25Ter)
|
|
|
NM_012233.3(RAB3GAP1):c.18+1G>C
|
|
|
NM_012243.3(SLC35A3):c.594_598del (p.Lys198fs)
|
rs1332257684
|
|
NM_012309.5(SHANK2):c.1742del (p.Glu581fs)
|
|
|
NM_012388.4(BLOC1S6):c.332_333del (p.Tyr111fs)
|
rs2140918991
|
|
NM_012414.4(RAB3GAP2):c.2095C>T (p.Arg699Ter)
|
|
|
NM_012434.5(SLC17A5):c.43G>T (p.Glu15Ter)
|
rs727504157
|
|
NM_012434.5(SLC17A5):c.738G>A (p.Trp246Ter)
|
rs755923873
|
|
NM_012463.4(ATP6V0A2):c.2393del (p.Ala798fs)
|
|
|
NM_013254.4(TBK1):c.349C>T (p.Arg117Ter)
|
rs757203783
|
|
NM_013328.4(PYCR2):c.577G>A (p.Val193Met)
|
|
|
NM_013382.7(POMT2):c.785G>A (p.Trp262Ter)
|
|
|
NM_013382.7(POMT2):c.786G>A (p.Trp262Ter)
|
|
|
NM_014009.4(FOXP3):c.1222G>A (p.Val408Met)
|
rs1557115532
|
|
NM_014026.6(DCPS):c.856G>T (p.Glu286Ter)
|
|
|
NM_014028.4(OSTM1):c.255_256delinsC (p.Glu86fs)
|
|
|
NM_014049.5(ACAD9):c.1029+1dup
|
rs2107657797
|
|
NM_014049.5(ACAD9):c.1249C>T (p.Arg417Cys)
|
rs368949613
|
|
NM_014049.5(ACAD9):c.151-1_151del
|
rs766026673
|
|
NM_014049.5(ACAD9):c.1674_1692+34del
|
rs2107664575
|
|
NM_014049.5(ACAD9):c.1805C>T (p.Ser602Phe)
|
|
|
NM_014049.5(ACAD9):c.634-1G>A
|
|
|
NM_014141.6(CNTNAP2):c.1723del (p.Ser575fs)
|
rs2116638179
|
|
NM_014168.4(METTL5):c.541+1G>C
|
rs1467526653
|
|
NM_014239.4(EIF2B2):c.829C>T (p.Gln277Ter)
|
|
|
NM_014244.5(ADAMTS2):c.102_126dup (p.Ala43fs)
|
|
|
NM_014244.5(ADAMTS2):c.2422del (p.Thr808fs)
|
rs2113200020
|
|
NM_014251.3(SLC25A13):c.103A>G (p.Met35Val)
|
|
|
NM_014251.3(SLC25A13):c.1210G>T (p.Glu404Ter)
|
rs1793999476
|
|
NM_014251.3(SLC25A13):c.1307_1308delinsAA (p.Gly436Glu)
|
|
|
NM_014251.3(SLC25A13):c.1637C>T (p.Thr546Met)
|
rs548769905
|
|
NM_014268.4(MAPRE2):c.169_176del (p.Thr57fs)
|
rs1568991852
|
|
NM_014297.5(ETHE1):c.596-2A>G
|
rs863223954
|
|
NM_014297.5(ETHE1):c.702_703del (p.Gln235fs)
|
|
|
NM_014305.4(TGDS):c.313+1G>A
|
|
|
NM_014336.5(AIPL1):c.985C>T (p.Gln329Ter)
|
rs1208703297
|
|
NM_014362.4(HIBCH):c.809+1G>A
|
rs143746450
|
|
NM_014363.6(SACS):c.10103_10104insTATAGATT (p.Met3368fs)
|
rs2137577962
|
|
NM_014363.6(SACS):c.10466_10467del (p.Ser3489fs)
|
rs786204416
|
|
NM_014363.6(SACS):c.11136del (p.Pro3713_Leu3714insTer)
|
rs2137569225
|
|
NM_014363.6(SACS):c.11274_11276del (p.Ile3758_Thr3759delinsMet)
|
|
|
NM_014363.6(SACS):c.1276_1277dup (p.Leu426fs)
|
rs1057516406
|
|
NM_014363.6(SACS):c.4095G>A (p.Trp1365Ter)
|
rs1057516779
|
|
NM_014363.6(SACS):c.4957G>T (p.Glu1653Ter)
|
|
|
NM_014363.6(SACS):c.5008_5010delinsGTAGATGAATATCTACAATTGTGGATTGTATTTAG (p.Tyr1670fs)
|
|
|
NM_014363.6(SACS):c.520G>T (p.Glu174Ter)
|
rs2137742889
|
|
NM_014363.6(SACS):c.5296G>T (p.Glu1766Ter)
|
|
|
NM_014363.6(SACS):c.6172del (p.Ser2058fs)
|
rs1214399996
|
|
NM_014363.6(SACS):c.8790_8793del (p.Lys2930fs)
|
|
|
NM_014363.6(SACS):c.9653T>G (p.Leu3218Ter)
|
rs2137582138
|
|
NM_014363.6(SACS):c.9670C>T (p.Arg3224Ter)
|
rs751568153
|
|
NM_014625.4(NPHS2):c.452del
|
rs1250670041
|
|
NM_014625.4(NPHS2):c.928G>A (p.Glu310Lys)
|
rs1673254835
|
|
NM_014625.4(NPHS2):c.964C>T (p.Arg322Ter)
|
rs763818901
|
|
NM_014639.4(SKIC3):c.1134+1G>T
|
rs2112344385
|
|
NM_014639.4(SKIC3):c.1166del (p.Leu389fs)
|
|
|
NM_014639.4(SKIC3):c.2114+2T>A
|
|
|
NM_014639.4(SKIC3):c.2114+5G>A
|
|
|
NM_014639.4(SKIC3):c.3635del (p.Lys1212fs)
|
|
|
NM_014639.4(SKIC3):c.3807del (p.Pro1270fs)
|
rs2112260281
|
|
NM_014704.4(CEP104):c.1051_1054del (p.Thr351fs)
|
rs749829859
|
|
NM_014704.4(CEP104):c.1485+1G>A
|
|
|
NM_014704.4(CEP104):c.162T>A (p.Cys54Ter)
|
|
|
NM_014704.4(CEP104):c.182del (p.Leu61fs)
|
|
|
NM_014704.4(CEP104):c.1867_1870del (p.Tyr623fs)
|
rs1189678912
|
|
NM_014704.4(CEP104):c.2286del (p.Glu762fs)
|
|
|
NM_014704.4(CEP104):c.928dup (p.Ala310fs)
|
|
|
NM_014712.3(SETD1A):c.151-2A>G
|
|
|
NM_014714.4(IFT140):c.1155+1G>A
|
|
|
NM_014714.4(IFT140):c.2577+25G>A
|
rs1423102192
|
|
NM_014714.4(IFT140):c.2767_2768+2del
|
rs769075694
|
|
NM_014780.5(CUL7):c.2398-2A>G
|
|
|
NM_014780.5(CUL7):c.3645+1G>A
|
|
|
NM_014780.5(CUL7):c.649_654del (p.Ser217_Arg218del)
|
rs1340929933
|
|
NM_014804.3(KIAA0753):c.1481del (p.Lys494fs)
|
rs766831438
|
|
NM_014844.4(TECPR2):c.222delG
|
rs1567327482
|
|
NM_014865.4(NCAPD2):c.2508del (p.Phe837fs)
|
rs772347389
|
|
NM_014875.3(KIF14):c.1921dup (p.Ser641fs)
|
|
|
NM_014875.3(KIF14):c.2218C>T (p.Arg740Ter)
|
|
|
NM_014875.3(KIF14):c.2765_2766del (p.Lys922fs)
|
|
|
NM_014875.3(KIF14):c.8dup (p.Leu3fs)
|
|
|
NM_014946.4(SPAST):c.1103T>C (p.Phe368Ser)
|
rs1553316799
|
|
NM_014946.4(SPAST):c.1537-11A>G
|
rs549538513
|
|
NM_014946.4(SPAST):c.1841C>T (p.Thr614Ile)
|
rs1573186691
|
|
NM_014956.5(CEP164):c.3437del (p.Gln1146fs)
|
|
|
NM_015102.5(NPHP4):c.189_192del (p.Phe63fs)
|
rs1553200990
|
|
NM_015166.4(MLC1):c.299_423+108del
|
rs1602049346
|
|
NM_015166.4(MLC1):c.634G>A (p.Gly212Arg)
|
rs281875317
|
|
NM_015202.5(KATNIP):c.922C>T (p.Gln308Ter)
|
rs145247651
|
|
NM_015214.3(DDHD2):c.1126-2A>G
|
rs2130822605
|
|
NM_015272.5(RPGRIP1L):c.2239C>T (p.Arg747Ter)
|
rs767686118
|
|
NM_015272.5(RPGRIP1L):c.3299_3300dup (p.Ala1101fs)
|
rs797045104
|
|
NM_015272.5(RPGRIP1L):c.3558_3559dup (p.Pro1187fs)
|
rs1200131247
|
|
NM_015272.5(RPGRIP1L):c.529+1688_609del
|
|
|
NM_015272.5(RPGRIP1L):c.650C>A (p.Ser217Ter)
|
|
|
NM_015275.3(WASHC4):c.1374del (p.Met458fs)
|
|
|
NM_015275.3(WASHC4):c.2133dup (p.Ser712fs)
|
|
|
NM_015311.3(OBSL1):c.3603_3618del (p.Pro1203fs)
|
|
|
NM_015311.3(OBSL1):c.427dup (p.Ala143fs)
|
|
|
NM_015311.3(OBSL1):c.921delinsCC (p.Tyr308fs)
|
|
|
NM_015335.5(MED13L):c.4456C>T (p.Gln1486Ter)
|
rs1555243580
|
|
NM_015335.5(MED13L):c.5269dup (p.Gln1757fs)
|
rs1877279397
|
|
NM_015338.6(ASXL1):c.1751dup (p.Val585fs)
|
rs748946310
|
|
NM_015338.6(ASXL1):c.1934dup (p.Gly646fs)
|
rs750318549
|
|
NM_015338.6(ASXL1):c.2324del (p.Arg774_Leu775insTer)
|
rs765327792
|
|
NM_015338.6(ASXL1):c.3637del (p.Leu1213fs)
|
rs1569337176
|
|
NM_015404.4(WHRN):c.375del (p.Ala126fs)
|
rs751838091
|
|
NM_015443.4(KANSL1):c.611del (p.Gly204fs)
|
|
|
NM_015465.5(GEMIN5):c.4359+1G>T
|
rs1763176914
|
|
NM_015466.4(PTPN23):c.1744C>T (p.Gln582Ter)
|
|
|
NM_015474.4(SAMHD1):c.1322_1325del (p.Ala441fs)
|
|
|
NM_015474.4(SAMHD1):c.1436del (p.Glu479fs)
|
|
|
NM_015474.4(SAMHD1):c.1651C>T (p.Arg551Ter)
|
rs149846637
|
|
NM_015474.4(SAMHD1):c.869G>A (p.Arg290His)
|
|
|
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del)
|
rs796051998
|
|
NM_015506.3(MMACHC):c.443_459delinsCTGGGGCTGG (p.Val148fs)
|
rs2149323805
|
|
NM_015506.3(MMACHC):c.507_519del (p.Glu170fs)
|
rs1553162923
|
|
NM_015506.3(MMACHC):c.685C>T (p.Gln229Ter)
|
|
|
NM_015506.3(MMACHC):c.82-1G>A
|
rs1255179780
|
|
NM_015570.4(AUTS2):c.784C>T (p.Gln262Ter)
|
rs1585645384
|
|
NM_015599.3(PGM3):c.-2-185C>T
|
rs565900346
|
|
NM_015599.3(PGM3):c.114_118del (p.Met39fs)
|
|
|
NM_015599.3(PGM3):c.1539+2T>C
|
rs1786839596
|
|
NM_015627.3(LDLRAP1):c.533-1G>A
|
rs762148512
|
|
NM_015631.6(TCTN3):c.256+2_256+7del
|
rs1224169161
|
|
NM_015662.3(IFT172):c.4631_4632del (p.Arg1544fs)
|
rs2148472644
|
|
NM_015665.6(AAAS):c.810+1G>A
|
|
|
NM_015702.3(MMADHC):c.202del (p.Gln68fs)
|
|
|
NM_015702.3(MMADHC):c.372+1G>T
|
rs755561981
|
|
NM_015702.3(MMADHC):c.9+1G>A
|
|
|
NM_015909.4(NBAS):c.1A>T (p.Met1Leu)
|
rs368516200
|
|
NM_015909.4(NBAS):c.2764-1G>C
|
|
|
NM_015909.4(NBAS):c.4114C>T (p.Gln1372Ter)
|
|
|
NM_015909.4(NBAS):c.4461+2T>C
|
|
|
NM_015909.4(NBAS):c.4520del (p.Leu1507fs)
|
|
|
NM_015909.4(NBAS):c.4698_4741del (p.Ser1567fs)
|
|
|
NM_015909.4(NBAS):c.4838_4839del (p.Val1613fs)
|
|
|
NM_015909.4(NBAS):c.6877del (p.Leu2293fs)
|
rs761634052
|
|
NM_016034.5(MRPS2):c.300-2A>G
|
|
|
NM_016042.4(EXOSC3):c.312_313del (p.Gln105fs)
|
|
|
NM_016042.4(EXOSC3):c.556C>T (p.Arg186Ter)
|
|
|
NM_016042.4(EXOSC3):c.624_626+1del
|
rs769374744
|
|
NM_016194.4(GNB5):c.494+1G>T
|
|
|
NM_016203.4(PRKAG2):c.1459T>C (p.Tyr487His)
|
rs267606976
|
|
NM_016203.4(PRKAG2):c.879C>A (p.Phe293Leu)
|
rs193922697
|
|
NM_016213.5(TRIP4):c.272-1G>T
|
|
|
NM_016529.6(ATP8A2):c.2842A>T (p.Lys948Ter)
|
|
|
NM_016589.4(TIMMDC1):c.194+2T>C
|
|
|
NM_016589.4(TIMMDC1):c.1A>G (p.Met1Val)
|
|
|
NM_016938.5(EFEMP2):c.-7-1_-7delinsAT
|
|
|
NM_016938.5(EFEMP2):c.835C>T (p.Arg279Cys)
|
rs119489102
|
|
NM_016955.4(SEPSECS):c.114+3A>G
|
|
|
NM_017414.4(USP18):c.891+1G>T
|
|
|
NM_017547.4(FOXRED1):c.1057G>T (p.Glu353Ter)
|
rs780131344
|
|
NM_017547.4(FOXRED1):c.265C>T (p.Arg89Ter)
|
|
|
NM_017547.4(FOXRED1):c.733+1G>A
|
|
|
NM_017617.5(NOTCH1):c.5402C>G (p.Ser1801Ter)
|
|
|
NM_017714.3(TASP1):c.675+1G>T
|
|
|
NM_017721.5(CC2D1A):c.61-2A>G
|
|
|
NM_017739.4(POMGNT1):c.880-1G>A
|
rs1317832573
|
|
NM_017755.6(NSUN2):c.790C>T (p.Arg264Ter)
|
rs868442196
|
|
NM_017777.4(MKS1):c.829G>T (p.Glu277Ter)
|
rs1555599412
|
|
NM_017777.4(MKS1):c.868_871del (p.Arg290fs)
|
|
|
NM_017780.4(CHD7):c.2021del (p.Pro674fs)
|
rs1811220142
|
|
NM_017780.4(CHD7):c.5436C>G (p.Asp1812Glu)
|
|
|
NM_017849.4(TMEM127):c.560C>G (p.Ser187Ter)
|
|
|
NM_017882.3(CLN6):c.3G>A (p.Met1Ile)
|
rs2093262869
|
|
NM_017882.3(CLN6):c.890del (p.Pro297fs)
|
rs154774639
|
|
NM_017890.5(VPS13B):c.4289dup (p.Phe1431fs)
|
rs1427643616
|
|
NM_017946.4(FKBP14):c.52_55del (p.Ile18fs)
|
|
|
NM_018006.5(TRMU):c.1099C>T (p.Gln367Ter)
|
|
|
NM_018006.5(TRMU):c.652-2A>G
|
|
|
NM_018006.5(TRMU):c.773-1G>C
|
|
|
NM_018006.5(TRMU):c.873+1G>C
|
|
|
NM_018006.5(TRMU):c.882del (p.Thr295fs)
|
|
|
NM_018062.4(FANCL):c.202C>T (p.Arg68Ter)
|
rs1490932431
|
|
NM_018062.4(FANCL):c.223C>T (p.Gln75Ter)
|
|
|
NM_018062.4(FANCL):c.430del (p.Ser144fs)
|
rs869320685
|
|
NM_018112.3(TMEM38B):c.532A>T (p.Lys178Ter)
|
|
|
NM_018117.12(WDR11):c.1849G>T (p.Glu617Ter)
|
rs1847196520
|
|
NM_018122.5(DARS2):c.294+2_294+7del
|
|
|
NM_018129.4(PNPO):c.563dup (p.Asn188fs)
|
|
|
NM_018136.5(ASPM):c.4995T>A (p.Tyr1665Ter)
|
rs2125096196
|
|
NM_018149.7(SMG8):c.1534del (p.Gln512fs)
|
|
|
NM_018245.3(OGDHL):c.2140+1G>A
|
|
|
NM_018249.6(CDK5RAP2):c.4414+1G>A
|
|
|
NM_018294.6(CWF19L1):c.1045-2A>C
|
|
|
NM_018297.4(NGLY1):c.1192del (p.Glu397_Val398insTer)
|
|
|
NM_018297.4(NGLY1):c.1789G>A (p.Asp597Asn)
|
|
|
NM_018341.3(ERMARD):c.605+1G>A
|
rs2128344292
|
|
NM_018368.4(LMBRD1):c.1128C>A (p.Tyr376Ter)
|
|
|
NM_018368.4(LMBRD1):c.1396_1397insTC (p.Cys466fs)
|
rs764930914
|
|
NM_018418.5(SPATA7):c.1102_1103del (p.Leu368fs)
|
rs777069665
|
|
NM_018418.5(SPATA7):c.136C>T (p.Gln46Ter)
|
|
|
NM_018418.5(SPATA7):c.293_294del (p.Lys98fs)
|
|
|
NM_018418.5(SPATA7):c.3G>A (p.Met1Ile)
|
rs200244203
|
|
NM_018418.5(SPATA7):c.3G>T (p.Met1Ile)
|
|
|
NM_018451.5(CENPJ):c.505_506del (p.Gln169fs)
|
|
|
NM_018486.3(HDAC8):c.720T>G (p.Tyr240Ter)
|
rs2048769063
|
|
NM_018489.3(ASH1L):c.326G>A (p.Arg109Gln)
|
|
|
NM_018699.4(PRDM5):c.1513dup (p.Arg505fs)
|
|
|
NM_018699.4(PRDM5):c.1650C>A (p.Cys550Ter)
|
rs755802156
|
|
NM_018699.4(PRDM5):c.1785_1786del (p.His595fs)
|
rs1734381962
|
|
NM_018699.4(PRDM5):c.475+2T>C
|
|
|
NM_018699.4(PRDM5):c.658C>T (p.Gln220Ter)
|
|
|
NM_018941.4(CLN8):c.43del (p.Asp15fs)
|
|
|
NM_018941.4(CLN8):c.562_563del (p.Leu188fs)
|
rs386834132
|
|
NM_018941.4(CLN8):c.725del (p.Thr242fs)
|
rs2129015276
|
|
NM_018972.4(GDAP1):c.118-1G>A
|
|
|
NM_018972.4(GDAP1):c.533A>G (p.Asn178Ser)
|
rs1586804849
|
|
NM_019023.5(PRMT7):c.1499dup (p.Asp501fs)
|
rs1567739042
|
|
NM_019066.5(MAGEL2):c.3449_3450del (p.Phe1150fs)
|
rs998860333
|
|
NM_019109.5(ALG1):c.1150G>A (p.Gly384Arg)
|
rs1057520122
|
|
NM_019109.5(ALG1):c.115del (p.Val39fs)
|
rs886042130
|
|
NM_019109.5(ALG1):c.1188-1G>A
|
rs2142728485
|
|
NM_019616.4(F7):c.64+1005G>A
|
|
|
NM_019892.6(INPP5E):c.1224del (p.Ile409fs)
|
rs2131608743
|
|
NM_019892.6(INPP5E):c.1608dup (p.Asp537Ter)
|
rs2131605715
|
|
NM_019892.6(INPP5E):c.1757_1758del (p.Pro586fs)
|
|
|
NM_019892.6(INPP5E):c.1844_1846delinsGAA (p.Leu615_Leu616delinsTer)
|
|
|
NM_020117.11(LARS1):c.1755G>A (p.Trp585Ter)
|
|
|
NM_020117.11(LARS1):c.661C>T (p.Gln221Ter)
|
|
|
NM_020166.5(MCCC1):c.1905del (p.Lys635fs)
|
rs727504001
|
|
NM_020166.5(MCCC1):c.288T>A (p.Tyr96Ter)
|
|
|
NM_020247.5(COQ8A):c.1081-1_1082dup
|
rs1057519344
|
|
NM_020297.4(ABCC9):c.1680T>G (p.Tyr560Ter)
|
rs1326389765
|
|
NM_020320.5(RARS2):c.1490C>G (p.Ser497Ter)
|
|
|
NM_020320.5(RARS2):c.1511+1G>A
|
rs1772453347
|
|
NM_020320.5(RARS2):c.1628_1631del (p.Asp543fs)
|
rs757778880
|
|
NM_020320.5(RARS2):c.297+1G>C
|
|
|
NM_020320.5(RARS2):c.2T>G (p.Met1Arg)
|
rs199862050
|
|
NM_020320.5(RARS2):c.613-3927C>T
|
rs1410239766
|
|
NM_020320.5(RARS2):c.633_636del (p.Glu212fs)
|
rs755936301
|
|
NM_020366.4(RPGRIP1):c.1615_1624del (p.Glu539fs)
|
rs1420750126
|
|
NM_020366.4(RPGRIP1):c.3620T>G (p.Leu1207Ter)
|
|
|
NM_020442.6(VARS2):c.1480-2A>G
|
|
|
NM_020451.3(SELENON):c.1499dup (p.Asn501fs)
|
|
|
NM_020451.3(SELENON):c.402_403+2del
|
rs773670891
|
|
NM_020451.3(SELENON):c.600_601del (p.Phe201fs)
|
|
|
NM_020451.3(SELENON):c.863_864del (p.Val288fs)
|
rs1184282261
|
|
NM_020458.4(TTC7A):c.1322_1323del (p.Val441fs)
|
rs762466884
|
|
NM_020458.4(TTC7A):c.138dup (p.Asn47Ter)
|
rs1670398017
|
|
NM_020458.4(TTC7A):c.1630del (p.Leu544fs)
|
|
|
NM_020458.4(TTC7A):c.1641+1G>A
|
|
|
NM_020458.4(TTC7A):c.281del (p.Lys94fs)
|
rs2103966533
|
|
NM_020458.4(TTC7A):c.8del (p.Ala3fs)
|
|
|
NM_020533.3(MCOLN1):c.1219TTC[1] (p.Phe408del)
|
rs797044817
|
|
NM_020533.3(MCOLN1):c.1336G>T (p.Val446Leu)
|
rs754097561
|
|
NM_020549.5(CHAT):c.1468_1470delinsC (p.Glu490fs)
|
|
|
NM_020549.5(CHAT):c.451C>T (p.Arg151Ter)
|
|
|
NM_020631.6(PLEKHG5):c.2377dup (p.Ala793fs)
|
rs753593088
|
|
NM_020631.6(PLEKHG5):c.2503_2510del (p.Pro835fs)
|
|
|
NM_020632.3(ATP6V0A4):c.2011-2A>T
|
|
|
NM_020632.3(ATP6V0A4):c.2139+1G>T
|
|
|
NM_020638.3(FGF23):c.162G>C (p.Gln54His)
|
rs193922701
|
|
NM_020745.4(AARS2):c.233del (p.Gly78fs)
|
|
|
NM_020745.4(AARS2):c.436-2A>C
|
|
|
NM_020778.5(ALPK3):c.2043_2044delinsCT (p.Gln681_Glu682delinsHisTer)
|
rs2141567430
|
|
NM_020779.4(WDR35):c.437-1G>A
|
|
|
NM_020791.4(TAOK1):c.1960C>T (p.Arg654Ter)
|
rs2031934299
|
|
NM_020810.3(TRMT5):c.267_270delinsCTG (p.Ala89_Phe90insTer)
|
|
|
NM_020810.3(TRMT5):c.312_315del (p.Ile105fs)
|
rs755184077
|
|
NM_020812.4(DOCK6):c.3180del (p.Cys1061fs)
|
|
|
NM_020921.4(NIN):c.1966C>T (p.Gln656Ter)
|
|
|
NM_020944.3(GBA2):c.451+1G>A
|
rs769002624
|
|
NM_020971.3(SPTBN4):c.4960C>T (p.Gln1654Ter)
|
|
|
NM_020975.6(RET):c.1880-2A>G
|
rs193922699
|
|
NM_020987.5(ANK3):c.2125C>T (p.Arg709Ter)
|
rs1234025820
|
|
NM_021008.4(DEAF1):c.926del (p.Leu309fs)
|
rs1417226023
|
|
NM_021076.4(NEFH):c.41dup (p.Phe15fs)
|
|
|
NM_021095.4(SLC5A6):c.422_423del (p.Val141fs)
|
rs749980819
|
|
NM_021628.3(ALOXE3):c.1563-2A>G
|
|
|
NM_021830.5(TWNK):c.718C>T (p.Arg240Ter)
|
|
|
NM_021871.4(FGA):c.1119G>A (p.Trp373Ter)
|
|
|
NM_021922.3(FANCE):c.2T>C (p.Met1Thr)
|
rs1462766132
|
|
NM_021922.3(FANCE):c.2_7del (p.Met1_Ala2del)
|
rs755938406
|
|
NM_021926.4(ALX4):c.16dup (p.Cys6fs)
|
rs746479735
|
|
NM_021942.6(TRAPPC11):c.2753dup (p.Leu918fs)
|
|
|
NM_022081.6(HPS4):c.1501_1505del (p.His501fs)
|
|
|
NM_022081.6(HPS4):c.1535C>G (p.Ser512Ter)
|
rs150216540
|
|
NM_022081.6(HPS4):c.1713+1G>A
|
rs2146534178
|
|
NM_022081.6(HPS4):c.803+1G>A
|
|
|
NM_022089.4(ATP13A2):c.1600C>T (p.Gln534Ter)
|
|
|
NM_022089.4(ATP13A2):c.3281del (p.Gly1094fs)
|
|
|
NM_022101.4(STEEP1):c.163del (p.Arg55fs)
|
rs2147360775
|
|
NM_022124.6(CDH23):c.3579+2T>C
|
rs1385831846
|
|
NM_022124.6(CDH23):c.5067+1G>A
|
|
|
NM_022124.6(CDH23):c.5300_5303dup (p.His1769fs)
|
rs2132929769
|
|
NM_022124.6(CDH23):c.6083A>C (p.Asp2028Ala)
|
rs762226905
|
|
NM_022124.6(CDH23):c.6604G>A (p.Asp2202Asn)
|
rs121908349
|
|
NM_022124.6(CDH23):c.6831del (p.Lys2278fs)
|
rs1200012430
|
|
NM_022124.6(CDH23):c.8064+1G>A
|
rs1474524543
|
|
NM_022124.6(CDH23):c.913del (p.Leu305fs)
|
rs1393567447
|
|
NM_022124.6(CDH23):c.9278+2T>A
|
|
|
NM_022132.5(MCCC2):c.1072+1G>A
|
|
|
NM_022132.5(MCCC2):c.1216+2T>C
|
rs1554138265
|
|
NM_022132.5(MCCC2):c.314del (p.Gly105fs)
|
|
|
NM_022437.3(ABCG8):c.3G>T (p.Met1Ile)
|
|
|
NM_022464.5(SIL1):c.1038del (p.Glu347fs)
|
|
|
NM_022725.4(FANCF):c.193C>T (p.Gln65Ter)
|
rs753272712
|
|
NM_022726.4(ELOVL4):c.289-2A>G
|
rs1554162524
|
|
NM_022893.4(BCL11A):c.1135del (p.Cys379fs)
|
rs2103850075
|
|
NM_023036.6(DNAI2):c.987+1G>A
|
|
|
NM_023110.3(FGFR1):c.709G>A (p.Gly237Ser)
|
rs121909635
|
|
NM_024105.4(ALG12):c.1156dup (p.Gln386fs)
|
rs770711819
|
|
NM_024120.5(NDUFAF5):c.27_29delinsG (p.Leu10fs)
|
rs2147463824
|
|
NM_024120.5(NDUFAF5):c.519+2T>C
|
|
|
NM_024120.5(NDUFAF5):c.519+2T>G
|
rs2147534220
|
|
NM_024120.5(NDUFAF5):c.712_715del (p.Thr238fs)
|
|
|
NM_024301.5(FKRP):c.1415del (p.Lys472fs)
|
rs1555739280
|
|
NM_024301.5(FKRP):c.19C>T (p.Gln7Ter)
|
|
|
NM_024301.5(FKRP):c.469G>C (p.Ala157Pro)
|
rs727502842
|
|
NM_024306.5(FA2H):c.131C>A (p.Pro44Gln)
|
rs915291720
|
|
NM_024312.5(GNPTAB):c.1723G>A (p.Gly575Arg)
|
|
|
NM_024312.5(GNPTAB):c.1760G>C (p.Arg587Pro)
|
rs143788461
|
|
NM_024312.5(GNPTAB):c.2174T>A (p.Leu725Ter)
|
|
|
NM_024312.5(GNPTAB):c.2550_2554del (p.Lys850fs)
|
rs281864996
|
|
NM_024312.5(GNPTAB):c.2957G>A (p.Arg986His)
|
rs776312538
|
|
NM_024312.5(GNPTAB):c.3053A>G (p.Asp1018Gly)
|
rs281865007
|
|
NM_024312.5(GNPTAB):c.324-2A>G
|
|
|
NM_024312.5(GNPTAB):c.3336-1G>C
|
rs397507562
|
|
NM_024312.5(GNPTAB):c.3560_3561del (p.Glu1187fs)
|
rs781689303
|
|
NM_024312.5(GNPTAB):c.3663del (p.Met1221fs)
|
rs1952778845
|
|
NM_024312.5(GNPTAB):c.749dup (p.Asn250fs)
|
rs281864964
|
|
NM_024312.5(GNPTAB):c.750_751insA (p.Leu251fs)
|
rs1953320426
|
|
NM_024312.5(GNPTAB):c.99del (p.Ala34fs)
|
rs1408113895
|
|
NM_024407.5(NDUFS7):c.17-1167C>G
|
rs1568985256
|
|
NM_024422.6(DSC2):c.2477G>A (p.Trp826Ter)
|
|
|
NM_024529.5(CDC73):c.480_481del (p.His160fs)
|
rs1572152420
|
|
NM_024596.5(MCPH1):c.1924_1925insCA (p.Arg642fs)
|
rs1554496609
|
|
NM_024596.5(MCPH1):c.1978C>T (p.Gln660Ter)
|
|
|
NM_024596.5(MCPH1):c.2136+1G>T
|
|
|
NM_024596.5(MCPH1):c.2410A>T (p.Lys804Ter)
|
rs2129580766
|
|
NM_024596.5(MCPH1):c.625_626del (p.Leu209fs)
|
|
|
NM_024649.5(BBS1):c.1131_1135del (p.Cys377fs)
|
rs786204701
|
|
NM_024649.5(BBS1):c.1570_1572del (p.Asn524del)
|
rs863224782
|
|
NM_024649.5(BBS1):c.913G>A (p.Gly305Ser)
|
|
|
NM_024675.4(PALB2):c.1039_1042delinsAAAAAA (p.Glu347fs)
|
rs1567221761
|
|
NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter)
|
rs786203714
|
|
NM_024675.4(PALB2):c.1451del (p.Ser483_Leu484insTer)
|
rs1966967065
|
|
NM_024675.4(PALB2):c.1565del (p.Pro522fs)
|
rs1555461217
|
|
NM_024675.4(PALB2):c.18G>T (p.Gly6=)
|
rs587782462
|
|
NM_024675.4(PALB2):c.2218C>T (p.Gln740Ter)
|
rs1555460445
|
|
NM_024675.4(PALB2):c.2288_2291del (p.His762_Leu763insTer)
|
rs876659571
|
|
NM_024675.4(PALB2):c.228_229del (p.Ile76fs)
|
rs1555461870
|
|
NM_024675.4(PALB2):c.2405del (p.Cys802fs)
|
rs1966856604
|
|
NM_024675.4(PALB2):c.2512C>T (p.Gln838Ter)
|
rs750650768
|
|
NM_024675.4(PALB2):c.2607del (p.Ser869_Val870insTer)
|
rs767633741
|
|
NM_024675.4(PALB2):c.2759T>G (p.Leu920Ter)
|
rs1567214493
|
|
NM_024675.4(PALB2):c.2832_2834+4del
|
|
|
NM_024675.4(PALB2):c.2974_2975dup (p.Met992fs)
|
rs1555459520
|
|
NM_024675.4(PALB2):c.2986G>T (p.Glu996Ter)
|
rs786203775
|
|
NM_024675.4(PALB2):c.2996+2T>C
|
rs1966797789
|
|
NM_024675.4(PALB2):c.3251C>A (p.Ser1084Ter)
|
rs62625271
|
|
NM_024675.4(PALB2):c.3297_3298insT (p.Thr1100fs)
|
rs1567206823
|
|
NM_024675.4(PALB2):c.3469C>T (p.Gln1157Ter)
|
rs1597062038
|
|
NM_024675.4(PALB2):c.3523_3529delinsAAAAAAAAA (p.Gln1175fs)
|
rs2142251364
|
|
NM_024675.4(PALB2):c.761C>G (p.Ser254Ter)
|
rs864622695
|
|
NM_024675.4(PALB2):c.801_802dup (p.Lys268fs)
|
rs1555461618
|
|
NM_024675.4(PALB2):c.829_832del (p.His276_Asp277insTer)
|
rs1555461602
|
|
NM_024678.6(NARS2):c.947del (p.Asn316fs)
|
rs755975670
|
|
NM_024685.4(BBS10):c.1184A>G (p.His395Arg)
|
rs1368733646
|
|
NM_024685.4(BBS10):c.1189A>G (p.Ile397Val)
|
|
|
NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter)
|
rs1565809409
|
|
NM_024685.4(BBS10):c.179T>G (p.Leu60Ter)
|
rs2136091512
|
|
NM_024685.4(BBS10):c.197+1G>T
|
rs886042729
|
|
NM_024685.4(BBS10):c.235dup (p.Thr79fs)
|
rs760693838
|
|
NM_024685.4(BBS10):c.310_311del (p.Glu104fs)
|
rs2136091244
|
|
NM_024685.4(BBS10):c.473C>A (p.Ser158Ter)
|
rs553291328
|
|
NM_024685.4(BBS10):c.531C>A (p.Tyr177Ter)
|
rs863224522
|
|
NM_024747.6(HPS6):c.1387C>T (p.Arg463Ter)
|
|
|
NM_024747.6(HPS6):c.1556del (p.Gly519fs)
|
|
|
NM_024747.6(HPS6):c.1711_1712insAG (p.Cys571Ter)
|
rs1220869113
|
|
NM_024747.6(HPS6):c.1931_1953del (p.Val644fs)
|
|
|
NM_024747.6(HPS6):c.2028del (p.Glu677fs)
|
|
|
NM_024747.6(HPS6):c.229_232del (p.Ser77fs)
|
rs2136333814
|
|
NM_024747.6(HPS6):c.368del (p.Gly123fs)
|
|
|
NM_024747.6(HPS6):c.733C>T (p.Arg245Ter)
|
rs2136334244
|
|
NM_024757.5(EHMT1):c.824-2del
|
rs1234654104
|
|
NM_024884.3(L2HGDH):c.140+2_140+8del
|
|
|
NM_024996.7(GFM1):c.573-1G>C
|
rs2108009356
|
|
NM_025000.4(DCAF17):c.499_500insGA (p.Lys167fs)
|
|
|
NM_025074.7(FRAS1):c.13A>T (p.Lys5Ter)
|
|
|
NM_025074.7(FRAS1):c.4623C>A (p.Tyr1541Ter)
|
|
|
NM_025074.7(FRAS1):c.604-1G>C
|
|
|
NM_025074.7(FRAS1):c.6433C>T (p.Arg2145Ter)
|
rs756005814
|
|
NM_025074.7(FRAS1):c.7258-2A>G
|
|
|
NM_025099.6(CTC1):c.2831dup (p.His945fs)
|
rs199473677
|
|
NM_025099.6(CTC1):c.798_802del (p.Gln268fs)
|
|
|
NM_025114.4(CEP290):c.102+2T>G
|
rs763226787
|
|
NM_025114.4(CEP290):c.1915G>T (p.Glu639Ter)
|
rs1555220625
|
|
NM_025114.4(CEP290):c.2499G>A (p.Trp833Ter)
|
rs2137624440
|
|
NM_025114.4(CEP290):c.2506_2507del (p.Glu836fs)
|
rs1223251937
|
|
NM_025114.4(CEP290):c.2992-1G>T
|
|
|
NM_025114.4(CEP290):c.2992-2A>T
|
|
|
NM_025114.4(CEP290):c.3012del (p.Glu1005fs)
|
rs1555213204
|
|
NM_025114.4(CEP290):c.3212dup (p.Arg1072fs)
|
rs778407127
|
|
NM_025114.4(CEP290):c.3847C>T (p.Gln1283Ter)
|
rs2036824785
|
|
NM_025114.4(CEP290):c.384_385del (p.Asp128fs)
|
rs1288619268
|
|
NM_025114.4(CEP290):c.5582T>A (p.Leu1861Ter)
|
rs2137056192
|
|
NM_025114.4(CEP290):c.5803del (p.Glu1935fs)
|
|
|
NM_025114.4(CEP290):c.6447del (p.Glu2149fs)
|
rs1157238971
|
|
NM_025114.4(CEP290):c.7081C>T (p.Gln2361Ter)
|
|
|
NM_025114.4(CEP290):c.7198C>T (p.Gln2400Ter)
|
rs1478582091
|
|
NM_025137.4(SPG11):c.1825C>T (p.Gln609Ter)
|
|
|
NM_025137.4(SPG11):c.1891+1G>T
|
rs532072204
|
|
NM_025137.4(SPG11):c.2857G>T (p.Glu953Ter)
|
rs372906057
|
|
NM_025137.4(SPG11):c.4860dup (p.Lys1621fs)
|
rs1418873962
|
|
NM_025137.4(SPG11):c.6754+2_6754+3dup
|
rs759090170
|
|
NM_025137.4(SPG11):c.6755-1G>A
|
|
|
NM_025137.4(SPG11):c.6999+1G>T
|
|
|
NM_025137.4(SPG11):c.7000-3_7000-2insAGG
|
rs312262787
|
|
NM_025137.4(SPG11):c.7000G>C (p.Ala2334Pro)
|
|
|
NM_025137.4(SPG11):c.7023C>G (p.Tyr2341Ter)
|
|
|
NM_025152.3(NUBPL):c.423-1G>A
|
rs863224123
|
|
NM_025215.6(PUS1):c.70_74dup (p.Ser26fs)
|
|
|
NM_025233.7(COASY):c.1068_1069del (p.Cys357fs)
|
|
|
NM_025233.7(COASY):c.1403_1404dup (p.Ile469Ter)
|
rs560987504
|
|
NM_025233.7(COASY):c.492del (p.Glu164fs)
|
rs2143196984
|
|
NM_025265.4(TSEN2):c.960+1_960+5del
|
rs886037738
|
|
NM_030578.4(B9D2):c.220C>T (p.Pro74Ser)
|
rs863225150
|
|
NM_030578.4(B9D2):c.223_224insT (p.Arg75fs)
|
|
|
NM_030578.4(B9D2):c.33delinsTG (p.Ala13fs)
|
|
|
NM_030578.4(B9D2):c.463G>A (p.Gly155Ser)
|
rs750436680
|
|
NM_030632.3(ASXL3):c.5467C>T (p.Arg1823Ter)
|
rs2145432318
|
|
NM_030653.4(DDX11):c.792+1G>A
|
|
|
NM_030662.4(MAP2K2):c.619G>A (p.Glu207Lys)
|
rs727504382
|
|
NM_030665.4(RAI1):c.3534_3547del (p.Asp1179fs)
|
|
|
NM_030665.4(RAI1):c.5223del (p.Gly1742fs)
|
|
|
NM_030773.4(TUBB1):c.779T>C (p.Phe260Ser)
|
rs1057517996
|
|
NM_030777.4(SLC2A10):c.1393_1394del (p.Ser465fs)
|
rs1980007276
|
|
NM_030973.4(MED25):c.2T>G (p.Met1Arg)
|
|
|
NM_031229.4(RBCK1):c.582+1G>A
|
rs1017046170
|
|
NM_031407.7(HUWE1):c.12619G>A (p.Val4207Ile)
|
|
|
NM_031443.4(CCM2):c.803+1G>A
|
|
|
NM_031885.5(BBS2):c.1166_1169del (p.Val389fs)
|
rs1964269329
|
|
NM_031885.5(BBS2):c.1206dup (p.Arg403fs)
|
rs1964267396
|
|
NM_031885.5(BBS2):c.1371del (p.Lys458fs)
|
rs2144143132
|
|
NM_031885.5(BBS2):c.1770del (p.Phe590fs)
|
rs193922711
|
|
NM_031885.5(BBS2):c.1909_1910del (p.Met637fs)
|
rs1555521379
|
|
NM_031885.5(BBS2):c.402del (p.Ala136fs)
|
rs1368647604
|
|
NM_031885.5(BBS2):c.627_628del (p.Cys210fs)
|
rs773417074
|
|
NM_032040.5(CCDC8):c.1027C>T (p.Gln343Ter)
|
rs559473497
|
|
NM_032040.5(CCDC8):c.3G>A (p.Met1Ile)
|
|
|
NM_032040.5(CCDC8):c.4_22dup (p.Val8fs)
|
|
|
NM_032040.5(CCDC8):c.860del (p.Gln287fs)
|
rs778999067
|
|
NM_032040.5(CCDC8):c.976del (p.Asp326fs)
|
|
|
NM_032043.3(BRIP1):c.1004G>A (p.Trp335Ter)
|
rs1555607749
|
|
NM_032043.3(BRIP1):c.1340+1G>A
|
rs1555607022
|
|
NM_032043.3(BRIP1):c.141del (p.Thr48fs)
|
rs587782065
|
|
NM_032043.3(BRIP1):c.1473+1G>T
|
rs748274524
|
|
NM_032043.3(BRIP1):c.1474-1G>A
|
rs1555603638
|
|
NM_032043.3(BRIP1):c.2078_2079del (p.Cys693fs)
|
rs1603328466
|
|
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs)
|
rs864622611
|
|
NM_032043.3(BRIP1):c.2379+1G>T
|
rs1555590286
|
|
NM_032043.3(BRIP1):c.241del (p.Glu81fs)
|
rs1292988272
|
|
NM_032043.3(BRIP1):c.2487del (p.Gly830fs)
|
|
|
NM_032043.3(BRIP1):c.2992_2993del (p.Lys998fs)
|
rs878855151
|
|
NM_032043.3(BRIP1):c.3072del (p.Ser1025fs)
|
rs1342519012
|
|
NM_032043.3(BRIP1):c.3208del (p.Ser1070fs)
|
rs748598593
|
|
NM_032043.3(BRIP1):c.3216_3235dup (p.Ile1079delinsThrLeuPheHisHisTer)
|
rs1603275367
|
|
NM_032043.3(BRIP1):c.3223_3226del (p.Ser1075fs)
|
|
|
NM_032043.3(BRIP1):c.3240dup (p.Ala1081fs)
|
rs779741278
|
|
NM_032043.3(BRIP1):c.3370_3371del (p.Glu1124fs)
|
rs1426528935
|
|
NM_032043.3(BRIP1):c.3390_3393del (p.Tyr1131fs)
|
rs778664039
|
|
NM_032043.3(BRIP1):c.440dup (p.Tyr147Ter)
|
rs786203521
|
|
NM_032043.3(BRIP1):c.646del (p.Arg216fs)
|
rs1603347042
|
|
NM_032043.3(BRIP1):c.664A>T (p.Lys222Ter)
|
rs1603346983
|
|
NM_032043.3(BRIP1):c.679C>T (p.Gln227Ter)
|
rs45459799
|
|
NM_032043.3(BRIP1):c.875del (p.Phe292fs)
|
rs2078107930
|
|
NM_032119.4(ADGRV1):c.10075G>T (p.Glu3359Ter)
|
|
|
NM_032119.4(ADGRV1):c.12697dup (p.Ser4233fs)
|
rs1758488956
|
|
NM_032119.4(ADGRV1):c.13156del (p.Val4386fs)
|
|
|
NM_032119.4(ADGRV1):c.13273_13280del (p.Leu4425fs)
|
|
|
NM_032119.4(ADGRV1):c.16196+1G>T
|
rs1326895760
|
|
NM_032119.4(ADGRV1):c.16436del (p.Asn5479fs)
|
rs1764301206
|
|
NM_032119.4(ADGRV1):c.1850_1851del (p.Val617fs)
|
|
|
NM_032119.4(ADGRV1):c.18646del (p.Ala6216fs)
|
|
|
NM_032119.4(ADGRV1):c.2898+2T>C
|
|
|
NM_032119.4(ADGRV1):c.5944dup (p.Ser1982fs)
|
rs1554081619
|
|
NM_032119.4(ADGRV1):c.6219_6228dup (p.Glu2077fs)
|
|
|
NM_032119.4(ADGRV1):c.6778C>T (p.Arg2260Ter)
|
|
|
NM_032122.5(DTNBP1):c.448_449del (p.Met150fs)
|
|
|
NM_032237.5(POMK):c.386_387del (p.Leu129fs)
|
rs2130626422
|
|
NM_032382.5(COG8):c.1687_1688del (p.Phe563fs)
|
rs766244312
|
|
NM_032383.5(HPS3):c.2788_2792del (p.Glu930fs)
|
|
|
NM_032581.4(HYCC1):c.349C>T (p.Gln117Ter)
|
|
|
NM_032581.4(HYCC1):c.639del (p.Cys213fs)
|
|
|
NM_032588.4(TRIM63):c.739C>T (p.Gln247Ter)
|
rs148395034
|
|
NM_032608.7(MYO18B):c.3110G>A (p.Trp1037Ter)
|
|
|
NM_032888.4(COL27A1):c.2367G>A (p.Pro789=)
|
rs1830319943
|
|
NM_033028.5(BBS4):c.1248+2T>C
|
rs2151055229
|
|
NM_033056.4(PCDH15):c.5682dup (p.Ser1895fs)
|
rs1287068204
|
|
NM_033109.5(PNPT1):c.1441+2T>A
|
|
|
NM_033159.4(HYAL1):c.586_598del (p.Arg196fs)
|
rs1702201097
|
|
NM_033337.3(CAV3):c.213G>A (p.Trp71Ter)
|
rs2124988406
|
|
NM_033380.3(COL4A5):c.1690G>T (p.Gly564Cys)
|
rs281874674
|
|
NM_033380.3(COL4A5):c.2802dup (p.Gly935fs)
|
rs104886368
|
|
NM_033380.3(COL4A5):c.3017-2A>G
|
|
|
NM_033380.3(COL4A5):c.3365G>A (p.Gly1122Glu)
|
|
|
NM_033380.3(COL4A5):c.3554G>A (p.Gly1185Asp)
|
|
|
NM_033380.3(COL4A5):c.3907G>T (p.Gly1303Cys)
|
rs1327176357
|
|
NM_033380.3(COL4A5):c.4097_4098inv (p.Gly1366Val)
|
|
|
NM_033380.3(COL4A5):c.4316G>A (p.Gly1439Asp)
|
rs281874735
|
|
NM_033380.3(COL4A5):c.4995-1G>T
|
rs2148003624
|
|
NM_033380.3(COL4A5):c.827G>T (p.Gly276Val)
|
|
|
NM_033453.4(ITPA):c.270G>A (p.Trp90Ter)
|
rs2122346498
|
|
NM_033629.6(TREX1):c.123_125dup (p.Cys42Ter)
|
rs1354160835
|
|
NM_052844.4(DYNC2I2):c.1312_1313del (p.Leu438fs)
|
rs753802842
|
|
NM_052845.4(MMAB):c.454G>T (p.Glu152Ter)
|
rs557884699
|
|
NM_052845.4(MMAB):c.567CCG[3] (p.Arg191dup)
|
rs864309512
|
|
NM_054012.4(ASS1):c.1087C>G (p.Arg363Gly)
|
rs121908640
|
|
NM_054012.4(ASS1):c.1194-19_1197dup
|
|
|
NM_054012.4(ASS1):c.319del (p.Gln107fs)
|
rs1564903969
|
|
NM_054012.4(ASS1):c.420+1G>T
|
rs1554983719
|
|
NM_054012.4(ASS1):c.450_451del (p.Phe150fs)
|
rs786204648
|
|
NM_054012.4(ASS1):c.460_467del (p.Phe154fs)
|
rs1004492719
|
|
NM_054012.4(ASS1):c.479T>C (p.Leu160Pro)
|
rs969835605
|
|
NM_054012.4(ASS1):c.971G>T (p.Gly324Val)
|
rs1554725034
|
|
NM_058004.4(PI4KA):c.1687G>T (p.Glu563Ter)
|
|
|
NM_058172.6(ANTXR2):c.1087-1G>A
|
|
|
NM_058179.4(PSAT1):c.949G>T (p.Glu317Ter)
|
|
|
NM_058216.3(RAD51C):c.224_225dup (p.Ala76fs)
|
rs1598455598
|
|
NM_058216.3(RAD51C):c.374G>T (p.Gly125Val)
|
rs267606998
|
|
NM_058216.3(RAD51C):c.404G>A (p.Cys135Tyr)
|
rs767796996
|
|
NM_058216.3(RAD51C):c.571+1del
|
rs1327086366
|
|
NM_058216.3(RAD51C):c.706-1G>A
|
rs1555599090
|
|
NM_058216.3(RAD51C):c.732del (p.Ile244fs)
|
rs1060502601
|
|
NM_058216.3(RAD51C):c.837+1G>C
|
rs760235677
|
|
NM_078470.6(COX15):c.79_90+3delinsGACT
|
|
|
NM_078480.3(PUF60):c.464del (p.Ile155fs)
|
rs1816624373
|
|
NM_080916.3(DGUOK):c.591+1G>T
|
|
|
NM_130837.3(OPA1):c.2661+1G>T
|
rs794727392
|
|
NM_133259.4(LRPPRC):c.1369+2T>A
|
|
|
NM_133259.4(LRPPRC):c.149+1G>T
|
|
|
NM_133259.4(LRPPRC):c.1972C>T (p.Gln658Ter)
|
|
|
NM_133259.4(LRPPRC):c.2441_2444del (p.Thr814fs)
|
rs2105077465
|
|
NM_133259.4(LRPPRC):c.3130C>T (p.Arg1044Ter)
|
rs1558936154
|
|
NM_133259.4(LRPPRC):c.3963C>A (p.Tyr1321Ter)
|
rs863224052
|
|
NM_133378.4(TTN):c.41592_41611del (p.Val13865fs)
|
rs727504825
|
|
NM_134261.3(RORA):c.1304G>A (p.Trp435Ter)
|
|
|
NM_138694.4(PKHD1):c.10031T>G (p.Leu3344Ter)
|
rs398124475
|
|
NM_138694.4(PKHD1):c.10350C>A (p.Cys3450Ter)
|
rs765652131
|
|
NM_138694.4(PKHD1):c.10388T>A (p.Leu3463Ter)
|
|
|
NM_138694.4(PKHD1):c.10628_10635del (p.Leu3543fs)
|
rs752889346
|
|
NM_138694.4(PKHD1):c.10744G>T (p.Glu3582Ter)
|
rs148300854
|
|
NM_138694.4(PKHD1):c.10859_10860del (p.Arg3620fs)
|
rs1562040783
|
|
NM_138694.4(PKHD1):c.1095G>A (p.Trp365Ter)
|
rs1554219429
|
|
NM_138694.4(PKHD1):c.126del (p.Phe42fs)
|
rs760586271
|
|
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala)
|
rs750730042
|
|
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter)
|
rs749293235
|
|
NM_138694.4(PKHD1):c.2180dup (p.Asn727fs)
|
rs1554212326
|
|
NM_138694.4(PKHD1):c.2810G>A (p.Trp937Ter)
|
rs786204707
|
|
NM_138694.4(PKHD1):c.2813del (p.Tyr938fs)
|
rs1057517394
|
|
NM_138694.4(PKHD1):c.3158_3159del (p.Gly1053fs)
|
rs1554204054
|
|
NM_138694.4(PKHD1):c.3762_3763insG (p.Pro1255fs)
|
rs1802132538
|
|
NM_138694.4(PKHD1):c.3940del (p.Ser1314fs)
|
rs1057517273
|
|
NM_138694.4(PKHD1):c.5065del (p.Met1689fs)
|
rs1554198072
|
|
NM_138694.4(PKHD1):c.51A>G (p.Ala17=)
|
|
|
NM_138694.4(PKHD1):c.5336A>G (p.Asn1779Ser)
|
|
|
NM_138694.4(PKHD1):c.5464del (p.Thr1822fs)
|
rs1562140771
|
|
NM_138694.4(PKHD1):c.560G>A (p.Trp187Ter)
|
rs1810710453
|
|
NM_138694.4(PKHD1):c.561G>A (p.Trp187Ter)
|
|
|
NM_138694.4(PKHD1):c.573C>A (p.Cys191Ter)
|
|
|
NM_138694.4(PKHD1):c.5776del (p.Arg1926fs)
|
rs1791763088
|
|
NM_138694.4(PKHD1):c.5879_5880del (p.Thr1960fs)
|
rs771180444
|
|
NM_138694.4(PKHD1):c.6074A>G (p.Tyr2025Cys)
|
rs1554144226
|
|
NM_138694.4(PKHD1):c.6296_6297del (p.Val2099fs)
|
rs910497248
|
|
NM_138694.4(PKHD1):c.645C>A (p.Cys215Ter)
|
rs557437764
|
|
NM_138694.4(PKHD1):c.6809-2A>T
|
rs1340926191
|
|
NM_138694.4(PKHD1):c.7264T>G (p.Cys2422Gly)
|
rs201881567
|
|
NM_138694.4(PKHD1):c.8552T>C (p.Ile2851Thr)
|
rs1554232224
|
|
NM_138694.4(PKHD1):c.85G>T (p.Glu29Ter)
|
rs398124498
|
|
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs)
|
rs797045101
|
|
NM_138694.4(PKHD1):c.9683C>A (p.Ser3228Ter)
|
rs1057516445
|
|
NM_138694.4(PKHD1):c.9913dup (p.Ile3305fs)
|
rs1785246943
|
|
NM_138694.4(PKHD1):c.9998G>C (p.Arg3333Thr)
|
rs1057524563
|
|
NM_138711.6(PPARG):c.-8-28082del
|
|
|
NM_139058.3(ARX):c.1112G>A (p.Arg371Gln)
|
rs2147322042
|
|
NM_139058.3(ARX):c.1187dup (p.Gly397fs)
|
rs1328291159
|
|
NM_139058.3(ARX):c.426_449dup (p.Gly143_Ala150dup)
|
rs1569395541
|
|
NM_139076.3(ABRAXAS1):c.26_47del (p.Val9fs)
|
rs1553938364
|
|
NM_139276.3(STAT3):c.1003C>T (p.Arg335Trp)
|
rs193922716
|
|
NM_139276.3(STAT3):c.1243G>A (p.Glu415Lys)
|
rs193922717
|
|
NM_139276.3(STAT3):c.1772A>T (p.Lys591Met)
|
rs193922719
|
|
NM_139276.3(STAT3):c.1780G>A (p.Glu594Lys)
|
rs193922720
|
|
NM_139276.3(STAT3):c.1970A>G (p.Tyr657Cys)
|
rs193922721
|
|
NM_139276.3(STAT3):c.1979T>C (p.Met660Thr)
|
rs886039434
|
|
NM_139276.3(STAT3):c.2134T>C (p.Cys712Arg)
|
rs193922722
|
|
NM_144563.3(RPIA):c.253G>A (p.Ala85Thr)
|
rs1399404493
|
|
NM_144596.4(TTC8):c.559C>T (p.Gln187Ter)
|
rs376035653
|
|
NM_144997.7(FLCN):c.1432+2T>C
|
rs1567807517
|
|
NM_144997.7(FLCN):c.1616dup (p.Ala541fs)
|
rs2144810362
|
|
NM_144997.7(FLCN):c.256_269del (p.Ser87fs)
|
rs2145014205
|
|
NM_144997.7(FLCN):c.379dup (p.Arg127fs)
|
rs2145010446
|
|
NM_145262.4(GLYCTK):c.1057del (p.His353fs)
|
rs1700517033
|
|
NM_145262.4(GLYCTK):c.37C>T (p.Arg13Ter)
|
|
|
NM_152296.5(ATP1A3):c.358-1G>A
|
|
|
NM_152296.5(ATP1A3):c.820A>T (p.Ile274Phe)
|
|
|
NM_152384.3(BBS5):c.82G>T (p.Glu28Ter)
|
|
|
NM_152416.4(NDUFAF6):c.233_242dup (p.Glu82fs)
|
rs863223932
|
|
NM_152419.3(HGSNAT):c.1267G>T (p.Gly423Trp)
|
rs1064795522
|
|
NM_152419.3(HGSNAT):c.1270G>A (p.Gly424Ser)
|
rs747616932
|
|
NM_152419.3(HGSNAT):c.947G>A (p.Trp316Ter)
|
rs1554533211
|
|
NM_152443.3(RDH12):c.580dup (p.Tyr194fs)
|
rs2140145502
|
|
NM_152443.3(RDH12):c.667G>T (p.Val223Phe)
|
rs370015375
|
|
NM_152564.5(VPS13B):c.10871G>A (p.Trp3624Ter)
|
rs386834057
|
|
NM_152564.5(VPS13B):c.11016_11034del (p.Thr3673fs)
|
|
|
NM_152564.5(VPS13B):c.11338dup (p.Val3780fs)
|
rs1554586953
|
|
NM_152564.5(VPS13B):c.11673_11674del (p.Ala3892fs)
|
rs1180933570
|
|
NM_152564.5(VPS13B):c.11702_11705del (p.Leu3901fs)
|
rs1161589003
|
|
NM_152564.5(VPS13B):c.11831_11840del (p.Pro3944fs)
|
rs386834069
|
|
NM_152564.5(VPS13B):c.11831_11841delinsG (p.Pro3944fs)
|
rs786204456
|
|
NM_152564.5(VPS13B):c.4304dup (p.Asn1435fs)
|
|
|
NM_152564.5(VPS13B):c.8446-1G>T
|
rs1554566596
|
|
NM_152564.5(VPS13B):c.8995-2A>G
|
rs1554569259
|
|
NM_152564.5(VPS13B):c.9718dup (p.Met3240fs)
|
rs886041185
|
|
NM_152618.3(BBS12):c.1531_1539del (p.Gln511_Gln513del)
|
rs752762669
|
|
NM_152618.3(BBS12):c.265_266del (p.Leu89fs)
|
rs1397714772
|
|
NM_152703.5(SAMD9L):c.2062T>A (p.Tyr688Asn)
|
|
|
NM_152726.3(MICU2):c.786_787del (p.Glu262fs)
|
rs752960720
|
|
NM_153033.5(KCTD7):c.393C>G (p.Tyr131Ter)
|
|
|
NM_153033.5(KCTD7):c.604del (p.Tyr202fs)
|
|
|
NM_153033.5(KCTD7):c.731del (p.Leu244fs)
|
rs2116775575
|
|
NM_153240.5(NPHP3):c.1304_1306del (p.Glu435del)
|
rs1456714047
|
|
NM_153240.5(NPHP3):c.1531C>T (p.Gln511Ter)
|
|
|
NM_153240.5(NPHP3):c.187_194del (p.Gly63fs)
|
rs2108007892
|
|
NM_153240.5(NPHP3):c.1888-7_1893del
|
rs1553773296
|
|
NM_153240.5(NPHP3):c.52del (p.Asp18fs)
|
rs2108008280
|
|
NM_153638.4(PANK2):c.42_67del (p.Ala15fs)
|
rs760822872
|
|
NM_153704.6(TMEM67):c.1132-2A>G
|
|
|
NM_153704.6(TMEM67):c.114del (p.Phe39fs)
|
|
|
NM_153704.6(TMEM67):c.1964_1965dup (p.Gly656fs)
|
|
|
NM_153704.6(TMEM67):c.223+1G>C
|
|
|
NM_153766.3(KCNJ1):c.472G>A (p.Ala158Thr)
|
|
|
NM_153766.3(KCNJ1):c.6_55del (p.Phe2fs)
|
|
|
NM_170606.3(KMT2C):c.13334G>A (p.Gly4445Asp)
|
rs2091357682
|
|
NM_170606.3(KMT2C):c.2961C>G (p.Tyr987Ter)
|
rs58528565
|
|
NM_170707.4(LMNA):c.1381-2A>G
|
rs267607600
|
|
NM_170707.4(LMNA):c.1646_1647del (p.Val549fs)
|
rs2102898301
|
|
NM_170707.4(LMNA):c.1698+1G>C
|
rs1553266337
|
|
NM_170707.4(LMNA):c.1845_1857del (p.Ala617fs)
|
rs2102901937
|
|
NM_170707.4(LMNA):c.639+1G>A
|
rs869125101
|
|
NM_170707.4(LMNA):c.83G>A (p.Arg28Gln)
|
rs886043109
|
|
NM_170784.3(MKKS):c.515_516del (p.Glu172fs)
|
rs2064904675
|
|
NM_172107.4(KCNQ2):c.835G>T (p.Gly279Cys)
|
rs1057516096
|
|
NM_172250.3(MMAA):c.411_414del (p.Asn137fs)
|
rs1553957931
|
|
NM_172250.3(MMAA):c.653G>A (p.Gly218Glu)
|
rs864309730
|
|
NM_172351.3(CD46):c.1082+2T>G
|
rs1184770295
|
|
NM_172351.3(CD46):c.725T>G (p.Phe242Cys)
|
|
|
NM_173076.3(ABCA12):c.4989dup (p.Thr1665fs)
|
|
|
NM_173076.3(ABCA12):c.6781_6782dup (p.Thr2262fs)
|
|
|
NM_173477.5(USH1G):c.502G>T (p.Glu168Ter)
|
rs1226851798
|
|
NM_173477.5(USH1G):c.607C>T (p.Gln203Ter)
|
|
|
NM_173483.4(CYP4F22):c.429dup (p.Leu144fs)
|
rs1382435790
|
|
NM_173483.4(CYP4F22):c.759_760del (p.Ile254fs)
|
|
|
NM_173630.4(RTTN):c.398-1G>T
|
|
|
NM_173660.5(DOK7):c.1370_1446del (p.Glu457fs)
|
|
|
NM_173660.5(DOK7):c.1441dup (p.His481fs)
|
rs1168106708
|
|
NM_173660.5(DOK7):c.414C>T (p.Leu138=)
|
|
|
NM_173660.5(DOK7):c.451C>T (p.Gln151Ter)
|
|
|
NM_173660.5(DOK7):c.513C>T (p.Gly171=)
|
rs775583136
|
|
NM_174889.5(NDUFAF2):c.9_10del (p.Trp3fs)
|
|
|
NM_174936.4(PCSK9):c.323T>G (p.Leu108Arg)
|
rs1057519691
|
|
NM_175914.5(HNF4A):c.1187G>C (p.Cys396Ser)
|
rs193922470
|
|
NM_175914.5(HNF4A):c.200G>A (p.Arg67Gln)
|
rs1555813319
|
|
NM_175914.5(HNF4A):c.281_282delinsC (p.Arg94fs)
|
rs193922471
|
|
NM_175914.5(HNF4A):c.470AGA[1] (p.Lys158del)
|
rs1280663753
|
|
NM_175914.5(HNF4A):c.553G>C (p.Ala185Pro)
|
rs193922474
|
|
NM_175914.5(HNF4A):c.575_582+10del
|
rs193922475
|
|
NM_175914.5(HNF4A):c.660_662delinsTCAA (p.Leu221fs)
|
rs193922476
|
|
NM_177438.3(DICER1):c.4049del (p.Lys1350fs)
|
rs1891064547
|
|
NM_181486.4(TBX5):c.192G>A (p.Trp64Ter)
|
rs1555226581
|
|
NM_181486.4(TBX5):c.985_987delinsAC (p.Glu329fs)
|
rs1555223294
|
|
NM_181486.4(TBX5):c.985_987delinsAG (p.Glu329fs)
|
rs1555223294
|
|
NM_181507.2(HPS5):c.1423del (p.Leu475fs)
|
rs766602179
|
|
NM_181507.2(HPS5):c.2837+1G>A
|
|
|
NM_181507.2(HPS5):c.478-2A>G
|
|
|
NM_181523.3(PIK3R1):c.502+1G>C
|
rs773461483
|
|
NM_182760.4(SUMF1):c.191C>A (p.Ser64Ter)
|
rs1421066733
|
|
NM_182760.4(SUMF1):c.270+1del
|
rs2079966206
|
|
NM_182760.4(SUMF1):c.279del (p.Ile94fs)
|
rs2125134167
|
|
NM_182760.4(SUMF1):c.536G>C (p.Trp179Ser)
|
|
|
NM_182760.4(SUMF1):c.955-3_970del
|
|
|
NM_182916.3(TRNT1):c.1252dup (p.Ser418fs)
|
rs876661298
|
|
NM_182931.3(KMT2E):c.1388_1389del (p.Lys463fs)
|
|
|
NM_182931.3(KMT2E):c.3917dup (p.Pro1307fs)
|
rs1799183455
|
|
NM_182943.3(PLOD2):c.8dup (p.Cys4fs)
|
rs1353563172
|
|
NM_182961.4(SYNE1):c.19672C>T (p.Gln6558Ter)
|
rs2086610889
|
|
NM_183050.4(BCKDHB):c.1A>G (p.Met1Val)
|
rs1005542482
|
|
NM_183050.4(BCKDHB):c.403G>A (p.Gly135Arg)
|
rs751953459
|
|
NM_183050.4(BCKDHB):c.547C>T (p.Arg183Trp)
|
rs149766077
|
|
NM_183050.4(BCKDHB):c.583dup (p.Tyr195fs)
|
rs1772747408
|
|
NM_183050.4(BCKDHB):c.612dup (p.Ala205fs)
|
|
|
NM_183065.4(TMEM107):c.*696A>G
|
rs779456932
|
|
NM_194248.3(OTOF):c.1172del (p.Lys391fs)
|
rs483353050
|
|
NM_194248.3(OTOF):c.153_159del (p.Val52fs)
|
|
|
NM_194248.3(OTOF):c.1927G>T (p.Glu643Ter)
|
rs200864338
|
|
NM_194248.3(OTOF):c.4228-1G>T
|
|
|
NM_194248.3(OTOF):c.4748G>A (p.Arg1583His)
|
|
|
NM_194248.3(OTOF):c.5534-2A>G
|
rs1664440809
|
|
NM_194248.3(OTOF):c.5667G>A (p.Trp1889Ter)
|
|
|
NM_194279.4(ISCA2):c.313A>G (p.Arg105Gly)
|
|
|
NM_194292.3(SASS6):c.497C>A (p.Ser166Ter)
|
|
|
NM_194318.4(B3GLCT):c.1184+1G>A
|
rs2137936107
|
|
NM_194323.3(OTOF):c.3624del (p.Leu1209fs)
|
rs727505359
|
|
NM_198076.6(COX20):c.185dup (p.Val63fs)
|
|
|
NM_198129.4(LAMA3):c.8178-1G>C
|
rs1047102588
|
|
NM_198129.4(LAMA3):c.8295+1_8295+11del
|
|
|
NM_198129.4(LAMA3):c.8862+1G>A
|
|
|
NM_198239.2(CCN6):c.40_44del (p.Leu14fs)
|
|
|
NM_198239.2(CCN6):c.897C>A (p.Cys299Ter)
|
|
|
NM_198428.3(BBS9):c.1277_1280del
|
rs2128646927
|
|
NM_198428.3(BBS9):c.703-1G>C
|
|
|
NM_198994.2(TGM6):c.425_435del11
|
rs1222726216
|
|
NM_199242.3(UNC13D):c.1820G>C (p.Arg607Pro)
|
rs377293829
|
|
NM_199242.3(UNC13D):c.469C>T (p.Gln157Ter)
|
|
|
NM_201253.3(CRB1):c.3074G>A (p.Ser1025Asn)
|
rs62636274
|
|
NM_201384.3(PLEC):c.8995C>T (p.Gln2999Ter)
|
|
|
NM_201548.5(CERKL):c.1366-2A>G
|
|
|
NM_201548.5(CERKL):c.316C>T (p.Arg106Cys)
|
rs569826109
|
|
NM_201548.5(CERKL):c.568del (p.Val190fs)
|
|
|
NM_201548.5(CERKL):c.98T>G (p.Leu33Ter)
|
rs769632183
|
|
NM_205861.3(DHDDS):c.644del (p.Phe215fs)
|
|
|
NM_206900.3(RTN2):c.814+791_814+801del
|
rs1568624823
|
|
NM_206933.4(USH2A):c.10074C>A (p.Cys3358Ter)
|
rs1403618793
|
|
NM_206933.4(USH2A):c.12211_12212del (p.Asn4071fs)
|
|
|
NM_206933.4(USH2A):c.14010_14016del (p.Glu4671fs)
|
rs2102661317
|
|
NM_206933.4(USH2A):c.14885dup (p.Glu4963fs)
|
rs2102636006
|
|
NM_206933.4(USH2A):c.14969-2A>G
|
rs2102634730
|
|
NM_206933.4(USH2A):c.1813T>C (p.Cys605Arg)
|
rs886043096
|
|
NM_206933.4(USH2A):c.1888del (p.Ala630fs)
|
rs2102606427
|
|
NM_206933.4(USH2A):c.3541_3542delinsGTCC (p.Lys1181fs)
|
|
|
NM_206933.4(USH2A):c.3546T>A (p.Tyr1182Ter)
|
rs762167370
|
|
NM_206933.4(USH2A):c.4251+1del
|
rs2102460236
|
|
NM_206933.4(USH2A):c.43C>T (p.Gln15Ter)
|
rs1553258122
|
|
NM_206933.4(USH2A):c.5012G>A (p.Gly1671Asp)
|
rs727505116
|
|
NM_206933.4(USH2A):c.5144A>G (p.Glu1715Gly)
|
|
|
NM_206933.4(USH2A):c.6159del (p.Glu2054fs)
|
rs769838859
|
|
NM_206933.4(USH2A):c.651+1G>A
|
rs1553257761
|
|
NM_206933.4(USH2A):c.6722C>T (p.Pro2241Leu)
|
rs1057518826
|
|
NM_206933.4(USH2A):c.6902T>C (p.Leu2301Ser)
|
rs759494205
|
|
NM_206933.4(USH2A):c.698del (p.Asp233fs)
|
|
|
NM_206933.4(USH2A):c.703dup (p.Thr235fs)
|
|
|
NM_206933.4(USH2A):c.7075_7076del (p.Leu2359fs)
|
rs1667314337
|
|
NM_206933.4(USH2A):c.7479_7480dup (p.Ser2494fs)
|
|
|
NM_206933.4(USH2A):c.7862del (p.Pro2621fs)
|
rs2102460381
|
|
NM_206933.4(USH2A):c.7915T>C (p.Ser2639Pro)
|
rs398124620
|
|
NM_206933.4(USH2A):c.838C>T (p.Leu280Phe)
|
rs2037760521
|
|
NM_206933.4(USH2A):c.842C>A (p.Thr281Lys)
|
rs2037760415
|
|
NM_206933.4(USH2A):c.9440G>A (p.Trp3147Ter)
|
rs1662880811
|
|
NM_206937.2(LIG4):c.2094C>G (p.Tyr698Ter)
|
rs373938258
|
|
NM_207346.3(TSEN54):c.1335del (p.Leu446fs)
|
rs587784476
|
|
NM_207346.3(TSEN54):c.1535del (p.Phe512fs)
|
rs2147019791
|
|
NM_207346.3(TSEN54):c.621_623+9del
|
|
|
NM_207346.3(TSEN54):c.856_862dup (p.Val288fs)
|
|
|
NM_207361.6(FREM2):c.2833del (p.His945fs)
|
rs759257554
|
|
NM_207361.6(FREM2):c.3761T>A (p.Leu1254Ter)
|
|
|
NM_207361.6(FREM2):c.6625dup (p.Tyr2209fs)
|
rs2137911471
|
|
NM_207361.6(FREM2):c.8082dup (p.Asp2695Ter)
|
|
|
NM_212552.3(BOLA3):c.259-1G>C
|
|
|
NM_213653.4(HJV):c.3G>C (p.Met1Ile)
|
|
|
NM_213653.4(HJV):c.657+2T>A
|
rs2101984042
|
|
NM_213653.4(HJV):c.862C>T (p.Arg288Trp)
|
|
|
NR_003051.3(RMRP):n.-10_-9insACTACTCTGTGAAGCACTACTCTGTGAAGC
|
rs727502776
|
|
NR_003051.3(RMRP):n.-10_-9insCTCTGTGAAGCCTCTGTGAAGC
|
rs1554651486
|
|
NR_003051.3(RMRP):n.-12_-4dupAGCTGAGGA
|
rs1554651425
|
|
NR_003051.3(RMRP):n.-13_-6dup
|
rs1563907946
|
|
NR_003051.3(RMRP):n.-15_-6dup
|
rs1554651447
|
|
NR_003051.3(RMRP):n.-15_-8dup
|
rs1230629953
|
|
NR_003051.3(RMRP):n.-17_-3dup15
|
rs1823634410
|
|
NR_003051.3(RMRP):n.-17_-5dup13
|
rs1823637491
|
|
NR_003051.3(RMRP):n.-19_-18insTCTGTGAAGCTGGGGAC
|
rs1823648167
|
|
NR_003051.3(RMRP):n.-19_-5dup
|
rs1823637565
|
|
NR_003051.3(RMRP):n.-20_-10dup
|
rs1554651486
|
|
NR_003051.3(RMRP):n.-20_-13dup
|
rs1554651512
|
|
NR_003051.3(RMRP):n.-20_-7dup14
|
rs1823639713
|
|
NR_003051.3(RMRP):n.-21_-4dup
|
rs1563907881
|
|
NR_003051.3(RMRP):n.-21_-9dupACTCTGTGAAGCT
|
rs751921616
|
|
NR_003051.3(RMRP):n.-22_-11dup
|
rs1179735603
|
|
NR_003051.3(RMRP):n.-25_-6dup
|
rs1554651445
|
|
NR_003051.3(RMRP):n.-27_-6dup22
|
rs1823638952
|
|
NR_003051.3(RMRP):n.-6_-5insAACACTCTGTGAAGCTGAG
|
rs1554651451
|
|
NR_003051.3(RMRP):n.-6_-5insATCTGTGAAGCTGA
|
rs1554651439
|
|
NR_003051.3(RMRP):n.-7_-6insATCTGTGAAGCTGA
|
rs1823639598
|
|
NR_003051.4(RMRP):n.213C>G
|
rs192060920
|
|
Single allele
|
|
|
p.X214Trp
|
|
|
p.X466Trp
|
|
|