NM_005957.5(MTHFR):c.665C>T (p.Ala222Val)
|
rs1801133
|
0.27446
|
NM_000410.4(HFE):c.187C>G (p.His63Asp)
|
rs1799945
|
0.10170
|
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)
|
rs1800562
|
0.03880
|
NM_000518.5(HBB):c.20A>T (p.Glu7Val)
|
rs334
|
0.01298
|
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)
|
rs28929474
|
0.01282
|
NM_004004.6(GJB2):c.101T>C (p.Met34Thr)
|
rs35887622
|
0.00966
|
NM_000518.4(HBB):c.19G>A (p.Glu7Lys)
|
rs33930165
|
0.00414
|
NM_000152.5(GAA):c.-32-13T>G
|
rs386834236
|
0.00384
|
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu)
|
rs77931234
|
0.00363
|
NM_004004.6(GJB2):c.109G>A (p.Val37Ile)
|
rs72474224
|
0.00354
|
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter)
|
rs7755898
|
0.00339
|
NM_000303.3(PMM2):c.422G>A (p.Arg141His)
|
rs28936415
|
0.00338
|
NM_000035.4(ALDOB):c.448G>C (p.Ala150Pro)
|
rs1800546
|
0.00319
|
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)
|
rs113624356
|
0.00212
|
NM_000478.6(ALPL):c.571G>A (p.Glu191Lys)
|
rs121918007
|
0.00200
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00192
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_000182.5(HADHA):c.1528G>C (p.Glu510Gln)
|
rs137852769
|
0.00182
|
NM_007194.4(CHEK2):c.1100del (p.Thr367fs)
|
rs555607708
|
0.00181
|
NM_000535.7(PMS2):c.2523G>A (p.Trp841Ter)
|
rs587780057
|
0.00174
|
NM_138413.4(HOGA1):c.700+5G>T
|
rs185803104
|
0.00156
|
NR_003051.3(RMRP):n.71A>G
|
rs199476103
|
0.00156
|
NM_000243.3(MEFV):c.2177T>C (p.Val726Ala)
|
rs28940579
|
0.00147
|
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)
|
rs150766139
|
0.00138
|
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)
|
rs74315294
|
0.00134
|
NM_000500.9(CYP21A2):c.518T>A (p.Ile173Asn)
|
rs6475
|
0.00117
|
NM_000018.4(ACADVL):c.848T>C (p.Val283Ala)
|
rs113994167
|
0.00116
|
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)
|
rs104893915
|
0.00106
|
NM_000383.4(AIRE):c.769C>T (p.Arg257Ter)
|
rs121434254
|
0.00105
|
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)
|
rs28937900
|
0.00103
|
NM_031307.4(PUS3):c.-47+3170T>C
|
rs104894232
|
0.00103
|
NM_000251.3(MSH2):c.942+2T>A
|
rs587779195
|
0.00101
|
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln)
|
rs76151636
|
0.00100
|
NM_000155.4(GALT):c.404C>T (p.Ser135Leu)
|
rs111033690
|
0.00094
|
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)
|
rs398124292
|
0.00093
|
NM_000277.3(PAH):c.1222C>T (p.Arg408Trp)
|
rs5030858
|
0.00092
|
NM_000518.5(HBB):c.-79A>G
|
rs34598529
|
0.00091
|
NM_004646.4(NPHS1):c.121_122del (p.Leu41fs)
|
rs386833873
|
0.00089
|
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)
|
rs121965019
|
0.00086
|
NM_000071.3(CBS):c.833T>C (p.Ile278Thr)
|
rs5742905
|
0.00083
|
NM_002225.5(IVD):c.932C>T (p.Ala311Val)
|
rs28940889
|
0.00077
|
NM_000235.4(LIPA):c.894G>A (p.Gln298=)
|
rs116928232
|
0.00075
|
NM_000016.6(ACADM):c.199T>C (p.Tyr67His)
|
rs121434280
|
0.00073
|
NM_000251.3(MSH2):c.942+3A>T
|
rs193922376
|
0.00072
|
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter)
|
rs11555217
|
0.00072
|
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)
|
rs121908529
|
0.00067
|
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)
|
rs80338945
|
0.00066
|
NM_138694.4(PKHD1):c.1486C>T (p.Arg496Ter)
|
rs137852949
|
0.00066
|
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)
|
rs121907943
|
0.00063
|
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)
|
rs121965020
|
0.00063
|
NM_000310.4(PPT1):c.364A>T (p.Arg122Trp)
|
rs137852695
|
0.00061
|
NM_004004.6(GJB2):c.167del (p.Leu56fs)
|
rs80338942
|
0.00058
|
NM_000277.3(PAH):c.1208C>T (p.Ala403Val)
|
rs5030857
|
0.00057
|
NM_000017.4(ACADS):c.319C>T (p.Arg107Cys)
|
rs61732144
|
0.00055
|
NM_000027.4(AGA):c.488G>C (p.Cys163Ser)
|
rs121964904
|
0.00055
|
NM_000112.4(SLC26A2):c.-26+2T>C
|
rs386833492
|
0.00055
|
NM_000500.9(CYP21A2):c.92C>T (p.Pro31Leu)
|
rs9378251
|
0.00055
|
NM_206933.4(USH2A):c.2299del (p.Glu767fs)
|
rs80338903
|
0.00055
|
NM_014625.4(NPHS2):c.413G>A (p.Arg138Gln)
|
rs74315342
|
0.00054
|
NM_000391.4(TPP1):c.509-1G>C
|
rs56144125
|
0.00053
|
NM_003640.5(ELP1):c.2204+6T>C
|
rs111033171
|
0.00051
|
NM_000228.3(LAMB3):c.1903C>T (p.Arg635Ter)
|
rs80356682
|
0.00049
|
NM_000277.3(PAH):c.734T>C (p.Val245Ala)
|
rs76212747
|
0.00049
|
NM_012434.5(SLC17A5):c.115C>T (p.Arg39Cys)
|
rs80338794
|
0.00049
|
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter)
|
rs1805137
|
0.00048
|
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met)
|
rs137852944
|
0.00048
|
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)
|
rs28933693
|
0.00046
|
NM_000487.6(ARSA):c.465+1G>A
|
rs80338815
|
0.00046
|
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)
|
rs387906309
|
0.00046
|
NM_000521.4(HEXB):c.1250C>T (p.Pro417Leu)
|
rs28942073
|
0.00046
|
NM_001130987.2(DYSF):c.2697+1G>A
|
rs140108514
|
0.00046
|
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)
|
rs80338685
|
0.00046
|
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser)
|
rs190521996
|
0.00042
|
NM_001079866.2(BCS1L):c.232A>G (p.Ser78Gly)
|
rs28937590
|
0.00042
|
NM_000277.3(PAH):c.1315+1G>A
|
rs5030861
|
0.00040
|
NM_000199.5(SGSH):c.734G>A (p.Arg245His)
|
rs104894635
|
0.00039
|
NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)
|
rs111033303
|
0.00039
|
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)
|
rs13073139
|
0.00039
|
NM_000310.4(PPT1):c.451C>T (p.Arg151Ter)
|
rs137852700
|
0.00038
|
NM_014249.4(NR2E3):c.119-2A>C
|
rs2723341
|
0.00038
|
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu)
|
rs28940893
|
0.00037
|
NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)
|
rs80338848
|
0.00035
|
NM_000048.4(ASL):c.532G>A (p.Val178Met)
|
rs28941473
|
0.00034
|
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys)
|
rs1801175
|
0.00034
|
NM_000277.3(PAH):c.898G>T (p.Ala300Ser)
|
rs5030853
|
0.00034
|
NM_017739.4(POMGNT1):c.1539+1G>A
|
rs138642840
|
0.00034
|
NM_000492.4(CFTR):c.3454G>C (p.Asp1152His)
|
rs75541969
|
0.00033
|
NM_014249.4(NR2E3):c.932G>A (p.Arg311Gln)
|
rs28937873
|
0.00032
|
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys)
|
rs121908096
|
0.00031
|
NM_000035.4(ALDOB):c.524C>A (p.Ala175Asp)
|
rs76917243
|
0.00030
|
NM_000492.4(CFTR):c.2988+1G>A
|
rs75096551
|
0.00030
|
NM_001079866.2(BCS1L):c.166C>T (p.Arg56Ter)
|
rs121908576
|
0.00030
|
NM_000359.3(TGM1):c.919C>G (p.Arg307Gly)
|
rs121918731
|
0.00029
|
NM_000441.2(SLC26A4):c.1001+1G>A
|
rs80338849
|
0.00029
|
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser)
|
rs74315457
|
0.00029
|
NM_000492.4(CFTR):c.1624G>T (p.Gly542Ter)
|
rs113993959
|
0.00029
|
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala)
|
rs28940279
|
0.00028
|
NM_000137.4(FAH):c.1062+5G>A
|
rs80338901
|
0.00028
|
NM_000277.3(PAH):c.1066-11G>A
|
rs5030855
|
0.00028
|
NM_000159.4(GCDH):c.1262C>T (p.Ala421Val)
|
rs121434367
|
0.00027
|
NM_000359.3(TGM1):c.877-2A>G
|
rs142634031
|
0.00027
|
NM_000151.4(G6PC1):c.1039C>T (p.Gln347Ter)
|
rs80356487
|
0.00026
|
NM_000159.4(GCDH):c.680G>C (p.Arg227Pro)
|
rs121434373
|
0.00026
|
NM_000518.5(HBB):c.118C>T (p.Gln40Ter)
|
rs11549407
|
0.00026
|
NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)
|
rs80356491
|
0.00026
|
NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter)
|
rs146347092
|
0.00026
|
NM_000071.3(CBS):c.919G>A (p.Gly307Ser)
|
rs121964962
|
0.00025
|
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr)
|
rs80358259
|
0.00025
|
NM_000277.3(PAH):c.1241A>G (p.Tyr414Cys)
|
rs5030860
|
0.00025
|
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter)
|
rs119455955
|
0.00025
|
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp)
|
rs61750420
|
0.00025
|
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter)
|
rs142441643
|
0.00025
|
NM_000277.3(PAH):c.165T>G (p.Phe55Leu)
|
rs199475598
|
0.00023
|
NM_000492.4(CFTR):c.1652G>A (p.Gly551Asp)
|
rs75527207
|
0.00022
|
NM_020975.6(RET):c.2410G>A (p.Val804Met)
|
rs79658334
|
0.00022
|
NM_000136.3(FANCC):c.456+4A>T
|
rs104886456
|
0.00021
|
NM_000199.5(SGSH):c.220C>T (p.Arg74Cys)
|
rs104894636
|
0.00021
|
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala)
|
rs80358257
|
0.00021
|
NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro)
|
rs28939086
|
0.00021
|
NM_000520.6(HEXA):c.1073+1G>A
|
rs76173977
|
0.00021
|
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
|
rs80338948
|
0.00021
|
NM_005476.7(GNE):c.1132G>T (p.Asp378Tyr)
|
rs199877522
|
0.00021
|
NM_000277.3(PAH):c.143T>C (p.Leu48Ser)
|
rs5030841
|
0.00020
|
NM_000152.5(GAA):c.525del (p.Glu176fs)
|
rs386834235
|
0.00019
|
NM_000232.5(SGCB):c.341C>T (p.Ser114Phe)
|
rs150518260
|
0.00019
|
NM_000352.6(ABCC8):c.3989-9G>A
|
rs151344623
|
0.00019
|
NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe)
|
rs111033199
|
0.00019
|
NM_000492.4(CFTR):c.3846G>A (p.Trp1282Ter)
|
rs77010898
|
0.00019
|
NM_006019.4(TCIRG1):c.1674-1G>A
|
rs139617644
|
0.00019
|
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser)
|
rs138577661
|
0.00018
|
NM_000159.4(GCDH):c.1213A>G (p.Met405Val)
|
rs141437721
|
0.00018
|
NM_000441.2(SLC26A4):c.919-2A>G
|
rs111033313
|
0.00018
|
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)
|
rs121434629
|
0.00018
|
NM_005373.3(MPL):c.79+2T>A
|
rs146249964
|
0.00018
|
NM_000057.4(BLM):c.1642C>T (p.Gln548Ter)
|
rs200389141
|
0.00017
|
NM_000155.4(GALT):c.855G>T (p.Lys285Asn)
|
rs111033773
|
0.00017
|
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln)
|
rs141498002
|
0.00017
|
NM_004004.6(GJB2):c.-23+1G>A
|
rs80338940
|
0.00017
|
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter)
|
rs104893851
|
0.00017
|
NM_000108.5(DLD):c.685G>T (p.Gly229Cys)
|
rs121964990
|
0.00016
|
NM_001370658.1(BTD):c.410G>A (p.Arg137His)
|
rs146015592
|
0.00016
|
NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)
|
rs111033294
|
0.00016
|
NM_174878.3(CLRN1):c.144T>G (p.Asn48Lys)
|
rs111033258
|
0.00016
|
NM_000048.4(ASL):c.857A>G (p.Gln286Arg)
|
rs28941472
|
0.00015
|
NM_000049.4(ASPA):c.914C>A (p.Ala305Glu)
|
rs28940574
|
0.00015
|
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val)
|
rs193922103
|
0.00015
|
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser)
|
rs121907954
|
0.00015
|
NM_205861.3(DHDDS):c.124A>G (p.Lys42Glu)
|
rs147394623
|
0.00015
|
NM_000360.4(TH):c.605G>A (p.Arg202His)
|
rs80338892
|
0.00014
|
NM_052845.4(MMAB):c.556C>T (p.Arg186Trp)
|
rs28941784
|
0.00014
|
NM_000016.6(ACADM):c.799G>A (p.Gly267Arg)
|
rs121434274
|
0.00013
|
NM_000492.4(CFTR):c.617T>G (p.Leu206Trp)
|
rs121908752
|
0.00013
|
NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)
|
rs104894398
|
0.00013
|
NM_152419.3(HGSNAT):c.493+1G>A
|
rs193066451
|
0.00013
|
NM_000112.4(SLC26A2):c.532C>T (p.Arg178Ter)
|
rs104893919
|
0.00012
|
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter)
|
rs761341952
|
0.00012
|
NM_000243.3(MEFV):c.2080A>G (p.Met694Val)
|
rs61752717
|
0.00012
|
NM_000492.4(CFTR):c.1657C>T (p.Arg553Ter)
|
rs74597325
|
0.00012
|
NM_001384140.1(PCDH15):c.733C>T (p.Arg245Ter)
|
rs111033260
|
0.00012
|
NM_206933.4(USH2A):c.11864G>A (p.Trp3955Ter)
|
rs111033364
|
0.00012
|
NM_000053.4(ATP7B):c.2930C>T (p.Thr977Met)
|
rs72552255
|
0.00011
|
NM_000199.5(SGSH):c.197C>G (p.Ser66Trp)
|
rs104894637
|
0.00011
|
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn)
|
rs62644499
|
0.00011
|
NM_000288.4(PEX7):c.903+1G>C
|
rs148591292
|
0.00011
|
NM_000492.3(CFTR):c.3718-2477C>T
|
rs75039782
|
0.00011
|
NM_000492.4(CFTR):c.489+1G>T
|
rs78756941
|
0.00011
|
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)
|
rs80338686
|
0.00011
|
NM_004004.6(GJB2):c.229T>C (p.Trp77Arg)
|
rs104894397
|
0.00011
|
NM_005476.7(GNE):c.1892C>T (p.Ala631Val)
|
rs62541771
|
0.00011
|
NM_014625.4(NPHS2):c.868G>A (p.Val290Met)
|
rs200482683
|
0.00011
|
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu)
|
rs28942074
|
0.00010
|
NM_000137.4(FAH):c.554-1G>T
|
rs80338895
|
0.00010
|
NM_000243.3(MEFV):c.2282G>A (p.Arg761His)
|
rs104895097
|
0.00010
|
NM_000277.3(PAH):c.842C>T (p.Pro281Leu)
|
rs5030851
|
0.00010
|
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs)
|
rs397515379
|
0.00010
|
NM_000543.5(SMPD1):c.1493G>T (p.Arg498Leu)
|
rs120074117
|
0.00010
|
NM_004937.3(CTNS):c.414G>A (p.Trp138Ter)
|
rs113994205
|
0.00010
|
NM_031885.5(BBS2):c.823C>T (p.Arg275Ter)
|
rs121908177
|
0.00010
|
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter)
|
rs137852986
|
0.00010
|
NM_138694.4(PKHD1):c.5895dup (p.Leu1966fs)
|
rs746838237
|
0.00010
|
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala)
|
rs574034197
|
0.00009
|
NM_000137.4(FAH):c.786G>A (p.Trp262Ter)
|
rs80338899
|
0.00009
|
NM_000277.3(PAH):c.117C>G (p.Phe39Leu)
|
rs62642926
|
0.00009
|
NM_000277.3(PAH):c.838G>A (p.Glu280Lys)
|
rs62508698
|
0.00009
|
NM_000492.4(CFTR):c.1000C>T (p.Arg334Trp)
|
rs121909011
|
0.00009
|
NM_000518.5(HBB):c.93-21G>A
|
rs35004220
|
0.00009
|
NM_000784.4(CYP27A1):c.1184+1G>A
|
rs587778777
|
0.00009
|
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met)
|
rs80338853
|
0.00009
|
NM_004646.4(NPHS1):c.2335-1G>A
|
rs150038620
|
0.00009
|
NM_007194.4(CHEK2):c.444+1G>A
|
rs121908698
|
0.00009
|
NM_017739.4(POMGNT1):c.1895+1G>T
|
rs386834024
|
0.00009
|
NM_020533.3(MCOLN1):c.406-2A>G
|
rs104886461
|
0.00009
|
NM_000048.4(ASL):c.446+1G>A
|
rs142637046
|
0.00008
|
NM_000071.3(CBS):c.1224-2A>C
|
rs375846341
|
0.00008
|
NM_000137.4(FAH):c.1069G>T (p.Glu357Ter)
|
rs121965075
|
0.00008
|
NM_000235.4(LIPA):c.398del (p.Leu132_Ser133insTer)
|
rs756016704
|
0.00008
|
NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp)
|
rs111033307
|
0.00008
|
NM_000492.4(CFTR):c.1585-1G>A
|
rs76713772
|
0.00008
|
NM_000528.4(MAN2B1):c.1830+1G>C
|
rs80338677
|
0.00008
|
NM_001164277.2(SLC37A4):c.1015G>T (p.Gly339Cys)
|
rs80356490
|
0.00008
|
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val)
|
rs369925690
|
0.00008
|
NM_147127.5(EVC2):c.3265C>T (p.Gln1089Ter)
|
rs137852927
|
0.00008
|
NM_000277.3(PAH):c.473G>A (p.Arg158Gln)
|
rs5030843
|
0.00007
|
NM_000303.3(PMM2):c.255+2T>C
|
rs139716296
|
0.00007
|
NM_000349.3(STAR):c.64+1G>T
|
rs765968701
|
0.00007
|
NM_000500.9(CYP21A2):c.1069C>T (p.Arg357Trp)
|
rs7769409
|
0.00007
|
NM_000518.5(HBB):c.92+6T>C
|
rs35724775
|
0.00007
|
NM_001360.3(DHCR7):c.1228G>A (p.Gly410Ser)
|
rs80338862
|
0.00007
|
NM_000030.3(AGXT):c.731T>C (p.Ile244Thr)
|
rs121908525
|
0.00006
|
NM_000155.4(GALT):c.584T>C (p.Leu195Pro)
|
rs111033728
|
0.00006
|
NM_000157.4(GBA1):c.115+1G>A
|
rs104886460
|
0.00006
|
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)
|
rs80356771
|
0.00006
|
NM_000157.4(GBA1):c.1604G>A (p.Arg535His)
|
rs75822236
|
0.00006
|
NM_000157.4(GBA1):c.84dup (p.Leu29fs)
|
rs387906315
|
0.00006
|
NM_000228.3(LAMB3):c.124C>T (p.Arg42Ter)
|
rs80356680
|
0.00006
|
NM_000243.3(MEFV):c.2082G>A (p.Met694Ile)
|
rs28940578
|
0.00006
|
NM_000277.3(PAH):c.814G>T (p.Gly272Ter)
|
rs62514952
|
0.00006
|
NM_000289.6(PFKM):c.237+1G>A
|
rs202143236
|
0.00006
|
NM_000310.4(PPT1):c.223A>C (p.Thr75Pro)
|
rs137852696
|
0.00006
|
NM_000318.3(PEX2):c.355C>T (p.Arg119Ter)
|
rs61752123
|
0.00006
|
NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)
|
rs111033305
|
0.00006
|
NM_000492.4(CFTR):c.1646G>A (p.Ser549Asn)
|
rs121908755
|
0.00006
|
NM_000492.4(CFTR):c.1675G>A (p.Ala559Thr)
|
rs75549581
|
0.00006
|
NM_000492.4(CFTR):c.254G>A (p.Gly85Glu)
|
rs75961395
|
0.00006
|
NM_000492.4(CFTR):c.2657+5G>A
|
rs80224560
|
0.00006
|
NM_000492.4(CFTR):c.3140-26A>G
|
rs76151804
|
0.00006
|
NM_000492.4(CFTR):c.3196C>T (p.Arg1066Cys)
|
rs78194216
|
0.00006
|
NM_000517.4(HBA2):c.427T>C (p.Ter143Gln)
|
rs41464951
|
0.00006
|
NM_000518.5(HBB):c.79G>A (p.Glu27Lys)
|
rs33950507
|
0.00006
|
NM_001164508.2(NEB):c.3255+1G>A
|
rs375628303
|
0.00006
|
NM_001360.3(DHCR7):c.1210C>T (p.Arg404Cys)
|
rs61757582
|
0.00006
|
NM_001370658.1(BTD):c.695A>G (p.Asp232Gly)
|
rs28934601
|
0.00006
|
NM_004628.5(XPC):c.2251-1G>C
|
rs754673606
|
0.00006
|
NM_006261.5(PROP1):c.150del (p.Arg53fs)
|
rs587776683
|
0.00006
|
NM_014244.5(ADAMTS2):c.673C>T (p.Gln225Ter)
|
rs137853146
|
0.00006
|
NM_032043.3(BRIP1):c.1871C>A (p.Ser624Ter)
|
rs587781321
|
0.00006
|
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp)
|
rs200391019
|
0.00006
|
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)
|
rs200379491
|
0.00005
|
NM_000082.4(ERCC8):c.37G>T (p.Glu13Ter)
|
rs121434324
|
0.00005
|
NM_000135.4(FANCA):c.1827-1G>A
|
rs555449842
|
0.00005
|
NM_000155.4(GALT):c.253-2A>G
|
rs111033661
|
0.00005
|
NM_000314.8(PTEN):c.802-2A>T
|
rs587782455
|
0.00005
|
NM_000518.5(HBB):c.316-197C>T
|
rs34451549
|
0.00005
|
NM_000518.5(HBB):c.92+1G>A
|
rs33971440
|
0.00005
|
NM_000520.6(HEXA):c.533G>A (p.Arg178His)
|
rs28941770
|
0.00005
|
NM_001360.3(DHCR7):c.976G>T (p.Val326Leu)
|
rs80338859
|
0.00005
|
NM_003060.4(SLC22A5):c.51C>G (p.Phe17Leu)
|
rs11568520
|
0.00005
|
NM_004168.4(SDHA):c.1534C>T (p.Arg512Ter)
|
rs748089700
|
0.00005
|
NM_032383.5(HPS3):c.1163+1G>A
|
rs201227603
|
0.00005
|
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu)
|
rs28940868
|
0.00004
|
NM_000277.3(PAH):c.1223G>A (p.Arg408Gln)
|
rs5030859
|
0.00004
|
NM_000303.3(PMM2):c.691G>A (p.Val231Met)
|
rs80338707
|
0.00004
|
NM_000359.3(TGM1):c.876+2T>C
|
rs151054393
|
0.00004
|
NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met)
|
rs111033220
|
0.00004
|
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)
|
rs121908362
|
0.00004
|
NM_000465.4(BARD1):c.1921C>T (p.Arg641Ter)
|
rs587781948
|
0.00004
|
NM_000492.4(CFTR):c.1766+1G>A
|
rs121908748
|
0.00004
|
NM_000492.4(CFTR):c.2988G>A (p.Gln996=)
|
rs121908797
|
0.00004
|
NM_000492.4(CFTR):c.3484C>T (p.Arg1162Ter)
|
rs74767530
|
0.00004
|
NM_000492.4(CFTR):c.579+1G>T
|
rs77188391
|
0.00004
|
NM_000535.7(PMS2):c.1A>G (p.Met1Val)
|
rs587779333
|
0.00004
|
NM_000543.5(SMPD1):c.911T>C (p.Leu304Pro)
|
rs120074124
|
0.00004
|
NM_000784.4(CYP27A1):c.845-1G>A
|
rs397515353
|
0.00004
|
NM_001164508.2(NEB):c.9619-2A>G
|
rs375145370
|
0.00004
|
NM_001918.5(DBT):c.75_76del (p.Cys26fs)
|
rs768832921
|
0.00004
|
NM_002439.5(MSH3):c.574C>T (p.Gln192Ter)
|
rs374133543
|
0.00004
|
NM_002528.7(NTHL1):c.782G>A (p.Trp261Ter)
|
rs753029097
|
0.00004
|
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter)
|
rs587780104
|
0.00004
|
NM_007194.4(CHEK2):c.1368dup (p.Glu457fs)
|
rs730881700
|
0.00004
|
NM_031885.5(BBS2):c.534+1G>T
|
rs773862084
|
0.00004
|
NM_058216.3(RAD51C):c.577C>T (p.Arg193Ter)
|
rs200293302
|
0.00004
|
NM_058216.3(RAD51C):c.774del (p.Thr259fs)
|
rs754367349
|
0.00004
|
NM_000022.4(ADA):c.478+1G>A
|
rs761242509
|
0.00003
|
NM_000038.6(APC):c.70C>T (p.Arg24Ter)
|
rs145945630
|
0.00003
|
NM_000053.4(ATP7B):c.3809A>G (p.Asn1270Ser)
|
rs121907990
|
0.00003
|
NM_000143.4(FH):c.698G>A (p.Arg233His)
|
rs121913123
|
0.00003
|
NM_000151.4(G6PC1):c.562G>C (p.Gly188Arg)
|
rs80356482
|
0.00003
|
NM_000159.4(GCDH):c.1244-2A>C
|
rs199999619
|
0.00003
|
NM_000170.3(GLDC):c.2316-1G>A
|
rs386833554
|
0.00003
|
NM_000228.3(LAMB3):c.565-2A>G
|
rs370148688
|
0.00003
|
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)
|
rs63750875
|
0.00003
|
NM_000286.3(PEX12):c.126+1G>T
|
rs144259891
|
0.00003
|
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu)
|
rs80338701
|
0.00003
|
NM_000382.3(ALDH3A2):c.943C>T (p.Pro315Ser)
|
rs72547571
|
0.00003
|
NM_000465.4(BARD1):c.1111A>T (p.Lys371Ter)
|
rs1364256214
|
0.00003
|
NM_000465.4(BARD1):c.1216C>T (p.Arg406Ter)
|
rs377153250
|
0.00003
|
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter)
|
rs587780021
|
0.00003
|
NM_000465.4(BARD1):c.2242G>T (p.Glu748Ter)
|
rs879253880
|
0.00003
|
NM_000481.4(AMT):c.878-1G>A
|
rs181134220
|
0.00003
|
NM_000492.4(CFTR):c.1040G>A (p.Arg347His)
|
rs77932196
|
0.00003
|
NM_000492.4(CFTR):c.3276C>A (p.Tyr1092Ter)
|
rs121908761
|
0.00003
|
NM_000518.5(HBB):c.315+1G>A
|
rs33945777
|
0.00003
|
NM_000518.5(HBB):c.316-106C>G
|
rs34690599
|
0.00003
|
NM_000518.5(HBB):c.316-2A>G
|
rs33914668
|
0.00003
|
NM_000518.5(HBB):c.51del (p.Lys18fs)
|
rs35662066
|
0.00003
|
NM_000784.4(CYP27A1):c.1263+1G>A
|
rs397515355
|
0.00003
|
NM_002439.5(MSH3):c.2803del (p.Ile935fs)
|
rs766672143
|
0.00003
|
NM_002528.7(NTHL1):c.366C>A (p.Tyr122Ter)
|
rs371328106
|
0.00003
|
NM_002528.7(NTHL1):c.604G>T (p.Glu202Ter)
|
rs919177150
|
0.00003
|
NM_002878.4(RAD51D):c.556C>T (p.Arg186Ter)
|
rs387906843
|
0.00003
|
NM_004004.6(GJB2):c.299_300del (p.His100fs)
|
rs111033204
|
0.00003
|
NM_005476.7(GNE):c.527A>T (p.Asp176Val)
|
rs139425890
|
0.00003
|
NM_007194.4(CHEK2):c.283C>T (p.Arg95Ter)
|
rs587781269
|
0.00003
|
NM_024675.4(PALB2):c.2730T>A (p.Tyr910Ter)
|
rs995629797
|
0.00003
|
NM_032043.3(BRIP1):c.1372G>T (p.Glu458Ter)
|
rs587780228
|
0.00003
|
NM_052845.4(MMAB):c.291-1G>A
|
rs199971687
|
0.00003
|
NM_206933.4(USH2A):c.8559-2A>G
|
rs397518039
|
0.00003
|
NM_000048.4(ASL):c.447-1G>A
|
rs778254333
|
0.00002
|
NM_000153.4(GALC):c.1671-1G>A
|
rs1182103005
|
0.00002
|
NM_000179.3(MSH6):c.10C>T (p.Gln4Ter)
|
rs786201042
|
0.00002
|
NM_000179.3(MSH6):c.1168del (p.Asp390fs)
|
rs753796271
|
0.00002
|
NM_000179.3(MSH6):c.3202C>T (p.Arg1068Ter)
|
rs63749843
|
0.00002
|
NM_000426.4(LAMA2):c.6429+1G>T
|
rs1262029350
|
0.00002
|
NM_000465.4(BARD1):c.1212C>G (p.Tyr404Ter)
|
rs587782681
|
0.00002
|
NM_000492.4(CFTR):c.1055G>A (p.Arg352Gln)
|
rs121908753
|
0.00002
|
NM_000492.4(CFTR):c.1679G>C (p.Arg560Thr)
|
rs80055610
|
0.00002
|
NM_000492.4(CFTR):c.178G>T (p.Glu60Ter)
|
rs77284892
|
0.00002
|
NM_000492.4(CFTR):c.274-1G>A
|
rs121908792
|
0.00002
|
NM_000492.4(CFTR):c.3266G>A (p.Trp1089Ter)
|
rs78802634
|
0.00002
|
NM_000492.4(CFTR):c.3302T>A (p.Met1101Lys)
|
rs36210737
|
0.00002
|
NM_000492.4(CFTR):c.3472C>T (p.Arg1158Ter)
|
rs79850223
|
0.00002
|
NM_000492.4(CFTR):c.532G>A (p.Gly178Arg)
|
rs80282562
|
0.00002
|
NM_000492.4(CFTR):c.988G>T (p.Gly330Ter)
|
rs79031340
|
0.00002
|
NM_000518.5(HBB):c.20del (p.Glu7fs)
|
rs63749819
|
0.00002
|
NM_000518.5(HBB):c.52A>T (p.Lys18Ter)
|
rs33986703
|
0.00002
|
NM_000520.6(HEXA):c.1421+1G>C
|
rs147324677
|
0.00002
|
NM_000535.7(PMS2):c.1882C>T (p.Arg628Ter)
|
rs63750451
|
0.00002
|
NM_000546.6(TP53):c.743G>A (p.Arg248Gln)
|
rs11540652
|
0.00002
|
NM_000709.4(BCKDHA):c.288+1G>A
|
rs398123496
|
0.00002
|
NM_002439.5(MSH3):c.2695_2696del (p.Met899fs)
|
rs1204002507
|
0.00002
|
NM_002878.4(RAD51D):c.363del (p.Ala122fs)
|
rs730881935
|
0.00002
|
NM_002878.4(RAD51D):c.451C>T (p.Gln151Ter)
|
rs587781756
|
0.00002
|
NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)
|
rs104894396
|
0.00002
|
NM_004646.4(NPHS1):c.3325C>T (p.Arg1109Ter)
|
rs137853042
|
0.00002
|
NM_005476.7(GNE):c.1714G>C (p.Val572Leu)
|
rs121908632
|
0.00002
|
NM_007194.4(CHEK2):c.1459C>T (p.Gln487Ter)
|
rs876659250
|
0.00002
|
NM_007194.4(CHEK2):c.279G>A (p.Trp93Ter)
|
rs587782070
|
0.00002
|
NM_007194.4(CHEK2):c.661_664dup (p.Met222fs)
|
rs750616657
|
0.00002
|
NM_024675.4(PALB2):c.2167_2168del (p.Met723fs)
|
rs587776416
|
0.00002
|
NM_024675.4(PALB2):c.2257C>T (p.Arg753Ter)
|
rs180177110
|
0.00002
|
NM_024675.4(PALB2):c.3113G>A (p.Trp1038Ter)
|
rs180177132
|
0.00002
|
NM_024675.4(PALB2):c.3256C>T (p.Arg1086Ter)
|
rs587776527
|
0.00002
|
NM_024675.4(PALB2):c.3323del (p.Tyr1108fs)
|
rs180177135
|
0.00002
|
NM_024675.4(PALB2):c.79G>T (p.Glu27Ter)
|
rs878855122
|
0.00002
|
NM_032043.3(BRIP1):c.1343G>A (p.Trp448Ter)
|
rs775171520
|
0.00002
|
NM_032043.3(BRIP1):c.1741C>T (p.Arg581Ter)
|
rs780020495
|
0.00002
|
NM_032043.3(BRIP1):c.2053C>T (p.Gln685Ter)
|
rs876659533
|
0.00002
|
NM_032043.3(BRIP1):c.633del (p.Gly212fs)
|
rs779466229
|
0.00002
|
NM_058216.3(RAD51C):c.224dup (p.Tyr75Ter)
|
rs730881939
|
0.00002
|
NM_152419.3(HGSNAT):c.1250+1G>A
|
rs398124544
|
0.00002
|
NM_206933.4(USH2A):c.11048-2A>G
|
rs200871041
|
0.00002
|
NM_000018.4(ACADVL):c.753-2A>C
|
rs398123092
|
0.00001
|
NM_000038.6(APC):c.1213C>T (p.Arg405Ter)
|
rs587779780
|
0.00001
|
NM_000038.6(APC):c.2795C>A (p.Ser932Ter)
|
rs878853432
|
0.00001
|
NM_000038.6(APC):c.3149del (p.Ala1050fs)
|
rs730882135
|
0.00001
|
NM_000038.6(APC):c.5038C>T (p.Gln1680Ter)
|
rs754122018
|
0.00001
|
NM_000038.6(APC):c.646C>T (p.Arg216Ter)
|
rs62619935
|
0.00001
|
NM_000045.4(ARG1):c.466-1G>C
|
rs1064794165
|
0.00001
|
NM_000049.4(ASPA):c.634+1G>T
|
rs753871454
|
0.00001
|
NM_000053.4(ATP7B):c.1708-1G>C
|
rs137853280
|
0.00001
|
NM_000053.4(ATP7B):c.2865+1G>A
|
rs587783306
|
0.00001
|
NM_000053.4(ATP7B):c.3556+1G>A
|
rs184388696
|
0.00001
|
NM_000082.4(ERCC8):c.618-1G>A
|
rs201464610
|
0.00001
|
NM_000092.5(COL4A4):c.4129C>T (p.Arg1377Ter)
|
rs121912861
|
0.00001
|
NM_000098.3(CPT2):c.370C>T (p.Arg124Ter)
|
rs201065226
|
0.00001
|
NM_000108.5(DLD):c.104dup (p.Tyr35Ter)
|
rs753234219
|
0.00001
|
NM_000136.3(FANCC):c.844-1G>C
|
rs774209201
|
0.00001
|
NM_000137.4(FAH):c.192G>T (p.Gln64His)
|
rs80338894
|
0.00001
|
NM_000143.4(FH):c.1189G>A (p.Gly397Arg)
|
rs863224007
|
0.00001
|
NM_000143.4(FH):c.301C>T (p.Arg101Ter)
|
rs121913120
|
0.00001
|
NM_000143.4(FH):c.553_554insTG (p.Gln185fs)
|
rs768182640
|
0.00001
|
NM_000143.4(FH):c.560C>G (p.Ser187Ter)
|
rs398123166
|
0.00001
|
NM_000151.4(G6PC1):c.248G>A (p.Arg83His)
|
rs1801176
|
0.00001
|
NM_000153.4(GALC):c.908+1G>A
|
rs750524447
|
0.00001
|
NM_000179.3(MSH6):c.1198G>T (p.Glu400Ter)
|
rs1396658541
|
0.00001
|
NM_000179.3(MSH6):c.1444C>T (p.Arg482Ter)
|
rs63750909
|
0.00001
|
NM_000179.3(MSH6):c.1612dup (p.Tyr538fs)
|
rs1230092559
|
0.00001
|
NM_000179.3(MSH6):c.2057G>A (p.Gly686Asp)
|
rs587779227
|
0.00001
|
NM_000179.3(MSH6):c.220G>T (p.Gly74Ter)
|
rs1553408388
|
0.00001
|
NM_000179.3(MSH6):c.2504del (p.Gln835fs)
|
rs1572727440
|
0.00001
|
NM_000179.3(MSH6):c.2731C>T (p.Arg911Ter)
|
rs63751017
|
0.00001
|
NM_000179.3(MSH6):c.2779dup (p.Ile927fs)
|
rs587782277
|
0.00001
|
NM_000179.3(MSH6):c.3103C>T (p.Arg1035Ter)
|
rs63749999
|
0.00001
|
NM_000179.3(MSH6):c.3487G>T (p.Glu1163Ter)
|
rs587779267
|
0.00001
|
NM_000179.3(MSH6):c.3514_3515insAA (p.Arg1172fs)
|
rs63751327
|
0.00001
|
NM_000179.3(MSH6):c.3514dup (p.Arg1172fs)
|
rs63751327
|
0.00001
|
NM_000179.3(MSH6):c.3660_3663dup (p.Phe1222fs)
|
rs752404604
|
0.00001
|
NM_000179.3(MSH6):c.3939_3957dup (p.Ala1320delinsSerLysGlyThrTer)
|
rs63750767
|
0.00001
|
NM_000179.3(MSH6):c.467C>G (p.Ser156Ter)
|
rs63749873
|
0.00001
|
NM_000179.3(MSH6):c.651dup (p.Lys218Ter)
|
rs63750955
|
0.00001
|
NM_000179.3(MSH6):c.742del (p.Arg248fs)
|
rs587781691
|
0.00001
|
NM_000179.3(MSH6):c.892C>T (p.Arg298Ter)
|
rs146816935
|
0.00001
|
NM_000203.5(IDUA):c.1402+1G>T
|
rs398123254
|
0.00001
|
NM_000249.4(MLH1):c.2059C>T (p.Arg687Trp)
|
rs63751275
|
0.00001
|
NM_000249.4(MLH1):c.207+1G>A
|
rs267607718
|
0.00001
|
NM_000249.4(MLH1):c.2080G>T (p.Glu694Ter)
|
rs147542208
|
0.00001
|
NM_000249.4(MLH1):c.298C>T (p.Arg100Ter)
|
rs63751221
|
0.00001
|
NM_000249.4(MLH1):c.963_1014dup (p.Ser339fs)
|
rs1553648058
|
0.00001
|
NM_000251.3(MSH2):c.2047G>A (p.Gly683Arg)
|
rs267607995
|
0.00001
|
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)
|
rs63750636
|
0.00001
|
NM_000260.4(MYO7A):c.2187+1G>A
|
rs111033290
|
0.00001
|
NM_000271.5(NPC1):c.2819C>T (p.Ser940Leu)
|
rs143124972
|
0.00001
|
NM_000277.3(PAH):c.1012G>T (p.Asp338Tyr)
|
rs62516150
|
0.00001
|
NM_000277.3(PAH):c.441+1G>A
|
rs62517166
|
0.00001
|
NM_000277.3(PAH):c.912+1G>A
|
rs62514956
|
0.00001
|
NM_000303.3(PMM2):c.338C>T (p.Pro113Leu)
|
rs80338700
|
0.00001
|
NM_000303.3(PMM2):c.395T>C (p.Ile132Thr)
|
rs80338702
|
0.00001
|
NM_000314.8(PTEN):c.388C>T (p.Arg130Ter)
|
rs121909224
|
0.00001
|
NM_000330.4(RS1):c.214G>A (p.Glu72Lys)
|
rs104894928
|
0.00001
|
NM_000370.3(TTPA):c.205-1G>C
|
rs886040963
|
0.00001
|
NM_000380.4(XPA):c.390-1G>C
|
rs750218942
|
0.00001
|
NM_000391.4(TPP1):c.851G>T (p.Gly284Val)
|
rs119455957
|
0.00001
|
NM_000441.2(SLC26A4):c.1614+1G>A
|
rs111033312
|
0.00001
|
NM_000441.2(SLC26A4):c.918+2T>C
|
rs912147281
|
0.00001
|
NM_000465.4(BARD1):c.1172C>A (p.Ser391Ter)
|
rs878853995
|
0.00001
|
NM_000465.4(BARD1):c.1205C>A (p.Ser402Ter)
|
rs796666047
|
0.00001
|
NM_000465.4(BARD1):c.1205C>G (p.Ser402Ter)
|
rs796666047
|
0.00001
|
NM_000465.4(BARD1):c.1338C>A (p.Tyr446Ter)
|
rs761702998
|
0.00001
|
NM_000465.4(BARD1):c.1385G>A (p.Trp462Ter)
|
rs1213894295
|
0.00001
|
NM_000465.4(BARD1):c.1652C>G (p.Ser551Ter)
|
rs587781707
|
0.00001
|
NM_000465.4(BARD1):c.16C>T (p.Gln6Ter)
|
rs876658234
|
0.00001
|
NM_000465.4(BARD1):c.1817_1818del (p.His606fs)
|
rs587782897
|
0.00001
|
NM_000465.4(BARD1):c.334C>T (p.Arg112Ter)
|
rs758972589
|
0.00001
|
NM_000465.4(BARD1):c.448C>T (p.Arg150Ter)
|
rs730881411
|
0.00001
|
NM_000478.6(ALPL):c.1559del (p.Leu520fs)
|
rs387906525
|
0.00001
|
NM_000478.6(ALPL):c.997+1G>T
|
rs1292415045
|
0.00001
|
NM_000487.6(ARSA):c.1210+1G>A
|
rs80338820
|
0.00001
|
NM_000487.6(ARSA):c.256C>T (p.Arg86Trp)
|
rs199476352
|
0.00001
|
NM_000487.6(ARSA):c.684+1G>A
|
rs146371968
|
0.00001
|
NM_000492.4(CFTR):c.1013C>T (p.Thr338Ile)
|
rs77409459
|
0.00001
|
NM_000492.4(CFTR):c.1477C>T (p.Gln493Ter)
|
rs77101217
|
0.00001
|
NM_000492.4(CFTR):c.1647T>G (p.Ser549Arg)
|
rs121909005
|
0.00001
|
NM_000492.4(CFTR):c.1680-1G>A
|
rs121908794
|
0.00001
|
NM_000492.4(CFTR):c.2125C>T (p.Arg709Ter)
|
rs121908760
|
0.00001
|
NM_000492.4(CFTR):c.223C>T (p.Arg75Ter)
|
rs121908749
|
0.00001
|
NM_000492.4(CFTR):c.2290C>T (p.Arg764Ter)
|
rs121908810
|
0.00001
|
NM_000492.4(CFTR):c.273+1G>A
|
rs121908791
|
0.00001
|
NM_000492.4(CFTR):c.3587C>G (p.Ser1196Ter)
|
rs121908763
|
0.00001
|
NM_000492.4(CFTR):c.3659del (p.Thr1220fs)
|
rs121908811
|
0.00001
|
NM_000492.4(CFTR):c.3744del (p.Lys1250fs)
|
rs121908784
|
0.00001
|
NM_000492.4(CFTR):c.3752G>A (p.Ser1251Asn)
|
rs74503330
|
0.00001
|
NM_000492.4(CFTR):c.579+5G>A
|
rs78440224
|
0.00001
|
NM_000518.5(HBB):c.25_26del (p.Lys9fs)
|
rs35497102
|
0.00001
|
NM_000518.5(HBB):c.92+5G>C
|
rs33915217
|
0.00001
|
NM_000520.6(HEXA):c.1528C>T (p.Arg510Ter)
|
rs786204585
|
0.00001
|
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter)
|
rs587778617
|
0.00001
|
NM_000535.7(PMS2):c.1471G>T (p.Glu491Ter)
|
rs1064794577
|
0.00001
|
NM_000535.7(PMS2):c.1927C>T (p.Gln643Ter)
|
rs63751422
|
0.00001
|
NM_000535.7(PMS2):c.2155C>T (p.Gln719Ter)
|
rs876659480
|
0.00001
|
NM_000535.7(PMS2):c.2382dup (p.Gly795fs)
|
rs1231406078
|
0.00001
|
NM_000535.7(PMS2):c.2404C>T (p.Arg802Ter)
|
rs63751466
|
0.00001
|
NM_000535.7(PMS2):c.248T>G (p.Leu83Ter)
|
rs1064794083
|
0.00001
|
NM_000535.7(PMS2):c.2T>C (p.Met1Thr)
|
rs587780059
|
0.00001
|
NM_000535.7(PMS2):c.400C>T (p.Arg134Ter)
|
rs63750871
|
0.00001
|
NM_000535.7(PMS2):c.709C>T (p.Gln237Ter)
|
rs1458321358
|
0.00001
|
NM_000535.7(PMS2):c.809C>G (p.Ser270Ter)
|
rs786201047
|
0.00001
|
NM_000535.7(PMS2):c.943C>T (p.Arg315Ter)
|
rs200640585
|
0.00001
|
NM_000546.6(TP53):c.524G>A (p.Arg175His)
|
rs28934578
|
0.00001
|
NM_000546.6(TP53):c.535C>T (p.His179Tyr)
|
rs587780070
|
0.00001
|
NM_000546.6(TP53):c.844C>T (p.Arg282Trp)
|
rs28934574
|
0.00001
|
NM_000551.4(VHL):c.292T>C (p.Tyr98His)
|
rs5030809
|
0.00001
|
NM_000642.3(AGL):c.1735+1G>T
|
rs199922945
|
0.00001
|
NM_000709.4(BCKDHA):c.647-1G>C
|
rs753216964
|
0.00001
|
NM_001130987.2(DYSF):c.1033+1G>A
|
rs201869739
|
0.00001
|
NM_001164508.2(NEB):c.78+1G>A
|
rs778593702
|
0.00001
|
NM_001365088.1(SLC12A6):c.3031C>T (p.Arg1011Ter)
|
rs121908427
|
0.00001
|
NM_001369.3(DNAH5):c.11653C>T (p.Arg3885Ter)
|
rs756032160
|
0.00001
|
NM_001370259.2(MEN1):c.1243C>T (p.Arg415Ter)
|
rs1060499974
|
0.00001
|
NM_001370259.2(MEN1):c.1378C>T (p.Arg460Ter)
|
rs104894267
|
0.00001
|
NM_001903.5(CTNNA1):c.385C>T (p.Arg129Ter)
|
rs758599826
|
0.00001
|
NM_002439.5(MSH3):c.1144A>T (p.Lys382Ter)
|
rs139170496
|
0.00001
|
NM_002439.5(MSH3):c.1360C>T (p.Arg454Ter)
|
rs539295465
|
0.00001
|
NM_002439.5(MSH3):c.1428T>A (p.Tyr476Ter)
|
rs1398195482
|
0.00001
|
NM_002439.5(MSH3):c.1586C>G (p.Ser529Ter)
|
rs758191157
|
0.00001
|
NM_002439.5(MSH3):c.1992del (p.Gln664fs)
|
rs1328242717
|
0.00001
|
NM_002439.5(MSH3):c.2100_2101del (p.Glu701fs)
|
rs1744168201
|
0.00001
|
NM_002439.5(MSH3):c.2179C>T (p.Arg727Ter)
|
rs376667075
|
0.00001
|
NM_002439.5(MSH3):c.2200C>T (p.Arg734Ter)
|
rs770330684
|
0.00001
|
NM_002439.5(MSH3):c.2212A>T (p.Lys738Ter)
|
rs1580035037
|
0.00001
|
NM_002439.5(MSH3):c.2663C>G (p.Ser888Ter)
|
rs1561486630
|
0.00001
|
NM_002439.5(MSH3):c.2835del (p.Tyr946fs)
|
rs767188723
|
0.00001
|
NM_002439.5(MSH3):c.721C>T (p.Gln241Ter)
|
rs1481996174
|
0.00001
|
NM_002439.5(MSH3):c.724C>T (p.Gln242Ter)
|
rs772046189
|
0.00001
|
NM_002439.5(MSH3):c.76C>T (p.Arg26Ter)
|
rs770190473
|
0.00001
|
NM_002439.5(MSH3):c.802C>T (p.Arg268Ter)
|
rs201033017
|
0.00001
|
NM_002439.5(MSH3):c.978_984del (p.Phe326fs)
|
rs1475633334
|
0.00001
|
NM_002528.7(NTHL1):c.256C>T (p.Gln86Ter)
|
rs2084372140
|
0.00001
|
NM_002528.7(NTHL1):c.433C>T (p.Arg145Ter)
|
rs374489979
|
0.00001
|
NM_002528.7(NTHL1):c.472C>T (p.Gln158Ter)
|
rs1198246754
|
0.00001
|
NM_002878.4(RAD51D):c.649G>T (p.Gly217Ter)
|
rs775365939
|
0.00001
|
NM_002878.4(RAD51D):c.655C>T (p.Gln219Ter)
|
rs771007945
|
0.00001
|
NM_003000.3(SDHB):c.137G>A (p.Arg46Gln)
|
rs772551056
|
0.00001
|
NM_003000.3(SDHB):c.423+1G>A
|
rs398122805
|
0.00001
|
NM_003001.5(SDHC):c.1A>G (p.Met1Val)
|
rs755235380
|
0.00001
|
NM_004168.4(SDHA):c.1054C>T (p.Arg352Ter)
|
rs746165168
|
0.00001
|
NM_004168.4(SDHA):c.1151C>G (p.Ser384Ter)
|
rs151170408
|
0.00001
|
NM_004168.4(SDHA):c.1338del (p.His447fs)
|
rs1735791499
|
0.00001
|
NM_004329.3(BMPR1A):c.1081C>T (p.Arg361Ter)
|
rs764466442
|
0.00001
|
NM_004360.5(CDH1):c.1003C>T (p.Arg335Ter)
|
rs587780784
|
0.00001
|
NM_005476.7(GNE):c.2135T>C (p.Met712Thr)
|
rs28937594
|
0.00001
|
NM_007194.4(CHEK2):c.1011C>A (p.Tyr337Ter)
|
rs760502479
|
0.00001
|
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter)
|
rs371418985
|
0.00001
|
NM_007194.4(CHEK2):c.1486C>T (p.Gln496Ter)
|
rs756250205
|
0.00001
|
NM_007194.4(CHEK2):c.1489del (p.Asp497fs)
|
rs774175654
|
0.00001
|
NM_007194.4(CHEK2):c.232C>T (p.Gln78Ter)
|
rs1555932341
|
0.00001
|
NM_007194.4(CHEK2):c.28C>T (p.Gln10Ter)
|
rs1064793817
|
0.00001
|
NM_007194.4(CHEK2):c.342G>A (p.Trp114Ter)
|
rs756949505
|
0.00001
|
NM_007194.4(CHEK2):c.409C>T (p.Arg137Ter)
|
rs730881701
|
0.00001
|
NM_007194.4(CHEK2):c.577_578del (p.Leu193fs)
|
rs775167943
|
0.00001
|
NM_007194.4(CHEK2):c.622del (p.Asp208fs)
|
rs773955899
|
0.00001
|
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter)
|
rs761494650
|
0.00001
|
NM_014363.6(SACS):c.12973C>T (p.Arg4325Ter)
|
rs762947018
|
0.00001
|
NM_014363.6(SACS):c.8844del (p.Ile2949fs)
|
rs281865117
|
0.00001
|
NM_014625.4(NPHS2):c.412C>T (p.Arg138Ter)
|
rs74315343
|
0.00001
|
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr)
|
rs77939446
|
0.00001
|
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)
|
rs75076352
|
0.00001
|
NM_024312.5(GNPTAB):c.2715+1G>A
|
rs281865031
|
0.00001
|
NM_024675.4(PALB2):c.1140_1143del (p.Ser380fs)
|
rs1257545151
|
0.00001
|
NM_024675.4(PALB2):c.1240C>T (p.Arg414Ter)
|
rs180177100
|
0.00001
|
NM_024675.4(PALB2):c.1258C>T (p.Gln420Ter)
|
rs587782446
|
0.00001
|
NM_024675.4(PALB2):c.156del (p.Glu53fs)
|
rs587776406
|
0.00001
|
NM_024675.4(PALB2):c.1616_1617dup (p.Asn540fs)
|
rs786203346
|
0.00001
|
NM_024675.4(PALB2):c.1633G>T (p.Glu545Ter)
|
rs180177103
|
0.00001
|
NM_024675.4(PALB2):c.1653T>A (p.Tyr551Ter)
|
rs118203997
|
0.00001
|
NM_024675.4(PALB2):c.1675C>T (p.Gln559Ter)
|
rs1555461154
|
0.00001
|
NM_024675.4(PALB2):c.196C>T (p.Gln66Ter)
|
rs180177083
|
0.00001
|
NM_024675.4(PALB2):c.2012T>G (p.Leu671Ter)
|
rs755263466
|
0.00001
|
NM_024675.4(PALB2):c.2108T>G (p.Leu703Ter)
|
rs752592662
|
0.00001
|
NM_024675.4(PALB2):c.229del (p.Cys77fs)
|
rs180177084
|
0.00001
|
NM_024675.4(PALB2):c.2336C>G (p.Ser779Ter)
|
rs764509489
|
0.00001
|
NM_024675.4(PALB2):c.2386G>T (p.Gly796Ter)
|
rs180177112
|
0.00001
|
NM_024675.4(PALB2):c.2888del (p.Ser963fs)
|
rs587776420
|
0.00001
|
NM_024675.4(PALB2):c.395del (p.Val132fs)
|
rs180177085
|
0.00001
|
NM_024675.4(PALB2):c.424A>T (p.Lys142Ter)
|
rs587782005
|
0.00001
|
NM_024675.4(PALB2):c.62T>G (p.Leu21Ter)
|
rs769240800
|
0.00001
|
NM_024675.4(PALB2):c.682C>T (p.Gln228Ter)
|
rs1327399690
|
0.00001
|
NM_024675.4(PALB2):c.751C>T (p.Gln251Ter)
|
rs180177091
|
0.00001
|
NM_024675.4(PALB2):c.758dup (p.Ser254fs)
|
rs515726126
|
0.00001
|
NM_024675.4(PALB2):c.940C>T (p.Gln314Ter)
|
rs786203821
|
0.00001
|
NM_032043.3(BRIP1):c.1066C>T (p.Arg356Ter)
|
rs730881633
|
0.00001
|
NM_032043.3(BRIP1):c.1188dup (p.Asn397Ter)
|
rs1603342313
|
0.00001
|
NM_032043.3(BRIP1):c.1240C>T (p.Gln414Ter)
|
rs368796923
|
0.00001
|
NM_032043.3(BRIP1):c.1315C>T (p.Arg439Ter)
|
rs587780226
|
0.00001
|
NM_032043.3(BRIP1):c.1594dup (p.Met532fs)
|
rs1339743866
|
0.00001
|
NM_032043.3(BRIP1):c.193C>T (p.Gln65Ter)
|
rs575595017
|
0.00001
|
NM_032043.3(BRIP1):c.2273dup (p.Ala759fs)
|
rs587780236
|
0.00001
|
NM_032043.3(BRIP1):c.2377C>T (p.Gln793Ter)
|
rs587782574
|
0.00001
|
NM_032043.3(BRIP1):c.2464dup (p.Tyr822fs)
|
rs1483527885
|
0.00001
|
NM_032043.3(BRIP1):c.24T>A (p.Tyr8Ter)
|
rs752411477
|
0.00001
|
NM_032043.3(BRIP1):c.2732dup (p.Thr912fs)
|
rs752780954
|
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_052845.4(MMAB):c.197-1G>T
|
rs763935916
|
0.00001
|
NM_058216.3(RAD51C):c.709C>T (p.Arg237Ter)
|
rs770637624
|
0.00001
|
NM_058216.3(RAD51C):c.914G>A (p.Trp305Ter)
|
rs876659874
|
0.00001
|
NM_058216.3(RAD51C):c.97C>T (p.Gln33Ter)
|
rs587782528
|
0.00001
|
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter)
|
rs727504089
|
0.00001
|
NM_144997.7(FLCN):c.1579C>T (p.Arg527Ter)
|
rs879255683
|
0.00001
|
NM_144997.7(FLCN):c.779+1G>T
|
rs758175953
|
0.00001
|
NM_152419.3(HGSNAT):c.234+1G>A
|
rs483352908
|
0.00001
|
NM_198129.4(LAMA3):c.6808C>T (p.Arg2270Ter)
|
rs137852757
|
0.00001
|
NM_206933.4(USH2A):c.12067-2A>G
|
rs397517978
|
0.00001
|
NM_206933.4(USH2A):c.1841-2A>G
|
rs397518003
|
0.00001
|
NM_206933.4(USH2A):c.5776+1G>A
|
rs876657731
|
0.00001
|
GRCh37/hg19 14q31.3(chr14:88391502-88423172)
|
|
|
GRCh37/hg19 15q23(chr15:72662932-72670877)
|
|
|
NC_000002.12:g.47429742_47429758del
|
|
|
NC_000002.12:g.47806204_47806207del
|
|
|
NC_000005.10:g.80854130del
|
|
|
NC_000010.11:g.87952119del
|
rs2132268865
|
|
NC_000010.11:g.87957853_87957860del
|
|
|
NC_000016.10:g.68815516del
|
rs2152134667
|
|
NM_000018.4(ACADVL):c.1077+2T>C
|
rs1057516370
|
|
NM_000030.3(AGXT):c.33dup (p.Lys12fs)
|
rs180177201
|
|
NM_000035.4(ALDOB):c.1005C>G (p.Asn335Lys)
|
rs78340951
|
|
NM_000038.5(APC):c.1412dupG
|
rs1580564136
|
|
NM_000038.5(APC):c.730_731delAG
|
rs387906228
|
|
NM_000038.6(APC):c.1021C>T (p.Gln341Ter)
|
|
|
NM_000038.6(APC):c.1032T>A (p.Cys344Ter)
|
rs1762819450
|
|
NM_000038.6(APC):c.1035dup (p.Ser346fs)
|
|
|
NM_000038.6(APC):c.1042C>T (p.Arg348Ter)
|
rs1314843920
|
|
NM_000038.6(APC):c.1042del (p.Arg348fs)
|
rs1762821346
|
|
NM_000038.6(APC):c.104del (p.Thr35fs)
|
rs1114167593
|
|
NM_000038.6(APC):c.1069_1075dup (p.Leu359fs)
|
|
|
NM_000038.6(APC):c.1072C>T (p.Gln358Ter)
|
rs863224455
|
|
NM_000038.6(APC):c.1081_1087dup (p.Asn363fs)
|
|
|
NM_000038.6(APC):c.108del (p.Lys36fs)
|
rs1554067141
|
|
NM_000038.6(APC):c.1095del (p.Asp366fs)
|
|
|
NM_000038.6(APC):c.1099dup (p.Ser367fs)
|
|
|
NM_000038.6(APC):c.1100_1101del (p.Ser367fs)
|
rs387906237
|
|
NM_000038.6(APC):c.1102_1103del (p.Val368fs)
|
rs1554080016
|
|
NM_000038.6(APC):c.1106T>A (p.Leu369Ter)
|
rs2149781233
|
|
NM_000038.6(APC):c.1109del (p.Leu370fs)
|
rs2149781278
|
|
NM_000038.6(APC):c.1114_1115del (p.Asn372fs)
|
|
|
NM_000038.6(APC):c.1124del (p.Gly375fs)
|
rs876658538
|
|
NM_000038.6(APC):c.1129A>T (p.Lys377Ter)
|
|
|
NM_000038.6(APC):c.1141del (p.Ala381fs)
|
rs1554080036
|
|
NM_000038.6(APC):c.1143del (p.Arg382fs)
|
|
|
NM_000038.6(APC):c.1153dup (p.Ala385fs)
|
rs1762844479
|
|
NM_000038.6(APC):c.1158_1159dup (p.Leu387fs)
|
rs2149781846
|
|
NM_000038.6(APC):c.1160_1164del (p.Leu387fs)
|
|
|
NM_000038.6(APC):c.1168del (p.Ile390fs)
|
|
|
NM_000038.6(APC):c.1178C>A (p.Ser393Ter)
|
|
|
NM_000038.6(APC):c.1178C>G (p.Ser393Ter)
|
rs1114167545
|
|
NM_000038.6(APC):c.1179dup (p.Gln394fs)
|
rs2149782151
|
|
NM_000038.6(APC):c.1180C>T (p.Gln394Ter)
|
rs770507436
|
|
NM_000038.6(APC):c.1180_1181del (p.Gln394fs)
|
|
|
NM_000038.6(APC):c.1188dup (p.Asp397Ter)
|
|
|
NM_000038.6(APC):c.1191_1192dup (p.Lys398fs)
|
rs2149782311
|
|
NM_000038.6(APC):c.1192A>T (p.Lys398Ter)
|
|
|
NM_000038.6(APC):c.1192_1193del (p.Lys398fs)
|
rs387906238
|
|
NM_000038.6(APC):c.1193dup (p.Arg399fs)
|
|
|
NM_000038.6(APC):c.1197_1198del (p.Gly400fs)
|
|
|
NM_000038.6(APC):c.1201_1204del (p.Arg401fs)
|
|
|
NM_000038.6(APC):c.1210dup (p.Ile404fs)
|
|
|
NM_000038.6(APC):c.1213del (p.Arg405fs)
|
rs1554080070
|
|
NM_000038.6(APC):c.1219del (p.Leu407fs)
|
rs1114167558
|
|
NM_000038.6(APC):c.1222dup (p.His408fs)
|
|
|
NM_000038.6(APC):c.1229del (p.Leu410fs)
|
rs863225308
|
|
NM_000038.6(APC):c.1229dup (p.Leu410fs)
|
rs863225308
|
|
NM_000038.6(APC):c.1234C>T (p.Gln412Ter)
|
rs876660802
|
|
NM_000038.6(APC):c.1235del (p.Gln412fs)
|
|
|
NM_000038.6(APC):c.1239dup (p.Arg414fs)
|
rs879254088
|
|
NM_000038.6(APC):c.1240del (p.Arg414fs)
|
rs1554080082
|
|
NM_000038.6(APC):c.1241_1246delinsA (p.Arg414fs)
|
rs1580530928
|
|
NM_000038.6(APC):c.1246dup (p.Tyr416fs)
|
rs1060503366
|
|
NM_000038.6(APC):c.1247dup (p.Tyr416Ter)
|
|
|
NM_000038.6(APC):c.1248C>A (p.Tyr416Ter)
|
|
|
NM_000038.6(APC):c.1255dup (p.Thr419fs)
|
|
|
NM_000038.6(APC):c.1256delinsTCA (p.Thr419fs)
|
|
|
NM_000038.6(APC):c.1259del (p.Cys420fs)
|
|
|
NM_000038.6(APC):c.1262G>A (p.Trp421Ter)
|
rs559510809
|
|
NM_000038.6(APC):c.1263G>A (p.Trp421Ter)
|
rs1554080106
|
|
NM_000038.6(APC):c.1267del (p.Trp423fs)
|
|
|
NM_000038.6(APC):c.1268G>A (p.Trp423Ter)
|
rs1762865724
|
|
NM_000038.6(APC):c.1269G>A (p.Trp423Ter)
|
|
|
NM_000038.6(APC):c.1270C>T (p.Gln424Ter)
|
rs1561542165
|
|
NM_000038.6(APC):c.1277del (p.Ala426fs)
|
|
|
NM_000038.6(APC):c.1297C>T (p.Gln433Ter)
|
rs863225309
|
|
NM_000038.6(APC):c.1298del (p.Gln433fs)
|
|
|
NM_000038.6(APC):c.1307del (p.Asn436fs)
|
rs1554080162
|
|
NM_000038.6(APC):c.130dup (p.Met44fs)
|
|
|
NM_000038.6(APC):c.1327G>T (p.Glu443Ter)
|
|
|
NM_000038.6(APC):c.1341T>A (p.Cys447Ter)
|
rs1561545947
|
|
NM_000038.6(APC):c.1354_1355del (p.Val452fs)
|
rs1554080698
|
|
NM_000038.6(APC):c.1354_1355dup (p.Leu453fs)
|
rs1554080698
|
|
NM_000038.6(APC):c.1355_1356insAT (p.Leu453fs)
|
|
|
NM_000038.6(APC):c.1357_1358del (p.Leu453fs)
|
|
|
NM_000038.6(APC):c.1358del (p.Leu453fs)
|
rs1554080702
|
|
NM_000038.6(APC):c.1365del (p.Lys455fs)
|
|
|
NM_000038.6(APC):c.1368_1369del (p.Ser457fs)
|
|
|
NM_000038.6(APC):c.1369del (p.Ser457fs)
|
rs387906229
|
|
NM_000038.6(APC):c.1369dup (p.Ser457fs)
|
|
|
NM_000038.6(APC):c.1370C>A (p.Ser457Ter)
|
rs1060503333
|
|
NM_000038.6(APC):c.1370C>G (p.Ser457Ter)
|
rs1060503333
|
|
NM_000038.6(APC):c.1370del (p.Ser457fs)
|
|
|
NM_000038.6(APC):c.1378G>T (p.Glu460Ter)
|
|
|
NM_000038.6(APC):c.1388dup (p.His464fs)
|
|
|
NM_000038.6(APC):c.1392dup (p.Ala465fs)
|
rs2149792705
|
|
NM_000038.6(APC):c.1411G>T (p.Gly471Ter)
|
|
|
NM_000038.6(APC):c.1413dup (p.Leu472fs)
|
|
|
NM_000038.6(APC):c.1417C>T (p.Gln473Ter)
|
rs876658868
|
|
NM_000038.6(APC):c.1429G>T (p.Glu477Ter)
|
|
|
NM_000038.6(APC):c.1431del (p.Glu477fs)
|
rs1554081640
|
|
NM_000038.6(APC):c.1433T>G (p.Leu478Ter)
|
rs863225314
|
|
NM_000038.6(APC):c.1433del (p.Leu478fs)
|
rs1240024893
|
|
NM_000038.6(APC):c.1436T>A (p.Leu479Ter)
|
|
|
NM_000038.6(APC):c.1438C>T (p.Gln480Ter)
|
|
|
NM_000038.6(APC):c.1449_1450del (p.Cys483_Glu484delinsTer)
|
rs1554081669
|
|
NM_000038.6(APC):c.1452_1455del (p.Glu484fs)
|
|
|
NM_000038.6(APC):c.145A>T (p.Lys49Ter)
|
rs1581160030
|
|
NM_000038.6(APC):c.1469_1470dup (p.Asp491fs)
|
rs2149809361
|
|
NM_000038.6(APC):c.1474_1487del (p.His492fs)
|
|
|
NM_000038.6(APC):c.1477_1478del (p.Tyr493fs)
|
|
|
NM_000038.6(APC):c.1479C>G (p.Tyr493Ter)
|
|
|
NM_000038.6(APC):c.147_150del (p.Lys49fs)
|
rs587781694
|
|
NM_000038.6(APC):c.1480del (p.Ser494fs)
|
|
|
NM_000038.6(APC):c.1485dup (p.Thr496fs)
|
rs1131691137
|
|
NM_000038.6(APC):c.1486dup (p.Thr496fs)
|
|
|
NM_000038.6(APC):c.1488_1489del (p.Leu497fs)
|
rs2149809585
|
|
NM_000038.6(APC):c.148_149del (p.Gln50fs)
|
rs2149783907
|
|
NM_000038.6(APC):c.1492dup (p.Arg498fs)
|
|
|
NM_000038.6(APC):c.1495C>T (p.Arg499Ter)
|
rs137854580
|
|
NM_000038.6(APC):c.14C>A (p.Ser5Ter)
|
rs373718658
|
|
NM_000038.6(APC):c.14del (p.Ser5fs)
|
rs1554067104
|
|
NM_000038.6(APC):c.1500T>A (p.Tyr500Ter)
|
rs387906230
|
|
NM_000038.6(APC):c.1500T>G (p.Tyr500Ter)
|
rs387906230
|
|
NM_000038.6(APC):c.1500del (p.Arg499_Tyr500insTer)
|
rs2149809839
|
|
NM_000038.6(APC):c.1511_1515del (p.Ala504fs)
|
|
|
NM_000038.6(APC):c.1514del (p.Ala504_Leu505insTer)
|
|
|
NM_000038.6(APC):c.151del (p.Leu51fs)
|
|
|
NM_000038.6(APC):c.1522_1523del (p.Leu508fs)
|
rs886039509
|
|
NM_000038.6(APC):c.1522_1545delinsA (p.Leu508fs)
|
|
|
NM_000038.6(APC):c.1526del (p.Thr509fs)
|
rs1064794092
|
|
NM_000038.6(APC):c.1530dup (p.Gly511fs)
|
rs1554081749
|
|
NM_000038.6(APC):c.1538_1539dup (p.Ala514Ter)
|
rs1554081762
|
|
NM_000038.6(APC):c.1538del (p.Val513fs)
|
|
|
NM_000038.6(APC):c.1539_1548del (p.Ala514fs)
|
|
|
NM_000038.6(APC):c.1548G>C (p.Lys516Asn)
|
rs879254090
|
|
NM_000038.6(APC):c.154C>T (p.Gln52Ter)
|
rs786202584
|
|
NM_000038.6(APC):c.1557dup (p.Cys520fs)
|
|
|
NM_000038.6(APC):c.1558_1565del (p.Cys520fs)
|
|
|
NM_000038.6(APC):c.1559del (p.Cys520fs)
|
|
|
NM_000038.6(APC):c.1564dup (p.Met522fs)
|
rs1554081884
|
|
NM_000038.6(APC):c.1565dup (p.Met522fs)
|
|
|
NM_000038.6(APC):c.1567A>T (p.Lys523Ter)
|
|
|
NM_000038.6(APC):c.1571_1574dup (p.Cys525fs)
|
rs2149813390
|
|
NM_000038.6(APC):c.1575C>A (p.Cys525Ter)
|
|
|
NM_000038.6(APC):c.1575_1588del (p.Met526fs)
|
|
|
NM_000038.6(APC):c.1579A>T (p.Arg527Ter)
|
|
|
NM_000038.6(APC):c.1594C>T (p.Gln532Ter)
|
rs1554081901
|
|
NM_000038.6(APC):c.1599_1600insGGCTACGCTATGCTCTATGAAAGGCTGCATGAAGAGCCTTGTGCGCCAACTA (p.Lys534fs)
|
|
|
NM_000038.6(APC):c.1600A>T (p.Lys534Ter)
|
rs1580569295
|
|
NM_000038.6(APC):c.1605_1606del (p.Glu536fs)
|
rs1554081906
|
|
NM_000038.6(APC):c.1609del (p.Ser537fs)
|
rs863225317
|
|
NM_000038.6(APC):c.1611_1612dup (p.Glu538fs)
|
|
|
NM_000038.6(APC):c.1612G>T (p.Glu538Ter)
|
|
|
NM_000038.6(APC):c.1619T>G (p.Leu540Ter)
|
|
|
NM_000038.6(APC):c.1619_1620insGG (p.Gln541fs)
|
|
|
NM_000038.6(APC):c.1620del (p.Leu540fs)
|
rs1554081921
|
|
NM_000038.6(APC):c.1620dup (p.Gln541fs)
|
rs1131691555
|
|
NM_000038.6(APC):c.1621C>T (p.Gln541Ter)
|
rs137854572
|
|
NM_000038.6(APC):c.1622dup (p.Gln542fs)
|
|
|
NM_000038.6(APC):c.1624C>T (p.Gln542Ter)
|
rs1580569680
|
|
NM_000038.6(APC):c.1624del (p.Gln542fs)
|
|
|
NM_000038.6(APC):c.1628_1629insA (p.Ile544fs)
|
|
|
NM_000038.6(APC):c.1630del (p.Ile544fs)
|
|
|
NM_000038.6(APC):c.1633dup (p.Ala545fs)
|
rs1554082082
|
|
NM_000038.6(APC):c.1639del (p.Val547fs)
|
|
|
NM_000038.6(APC):c.163_164insG (p.Ile55fs)
|
rs1554069524
|
|
NM_000038.6(APC):c.1647_1683del (p.Asn550fs)
|
|
|
NM_000038.6(APC):c.1652del (p.Leu551fs)
|
rs1554082100
|
|
NM_000038.6(APC):c.1654_1658del (p.Ser552fs)
|
rs876659452
|
|
NM_000038.6(APC):c.1657del (p.Trp553fs)
|
rs1114167594
|
|
NM_000038.6(APC):c.1658G>A (p.Trp553Ter)
|
rs863225318
|
|
NM_000038.6(APC):c.1659G>A (p.Trp553Ter)
|
rs398123116
|
|
NM_000038.6(APC):c.1660C>T (p.Arg554Ter)
|
rs137854573
|
|
NM_000038.6(APC):c.1674_1680del (p.Asn558fs)
|
|
|
NM_000038.6(APC):c.1677_1683del (p.Ser559fs)
|
|
|
NM_000038.6(APC):c.167_168del (p.Glu56fs)
|
|
|
NM_000038.6(APC):c.1682del (p.Lys561fs)
|
rs1554082118
|
|
NM_000038.6(APC):c.1687_1688del (p.Leu563fs)
|
|
|
NM_000038.6(APC):c.1690C>T (p.Arg564Ter)
|
rs137854574
|
|
NM_000038.6(APC):c.1690del (p.Arg564fs)
|
|
|
NM_000038.6(APC):c.1693G>T (p.Glu565Ter)
|
rs890665991
|
|
NM_000038.6(APC):c.1705del (p.Ser568_Val569insTer)
|
rs1554082135
|
|
NM_000038.6(APC):c.1718del (p.Met573fs)
|
|
|
NM_000038.6(APC):c.1720G>T (p.Glu574Ter)
|
rs1764024563
|
|
NM_000038.6(APC):c.1742del (p.Lys581fs)
|
rs1060503259
|
|
NM_000038.6(APC):c.1744-1G>A
|
|
|
NM_000038.6(APC):c.1744-2A>G
|
rs587783035
|
|
NM_000038.6(APC):c.1748C>A (p.Ser583Ter)
|
|
|
NM_000038.6(APC):c.1753del (p.Leu585fs)
|
rs1580603163
|
|
NM_000038.6(APC):c.1759del (p.Ser587fs)
|
rs1554083100
|
|
NM_000038.6(APC):c.1759dup (p.Ser587fs)
|
rs1554083100
|
|
NM_000038.6(APC):c.1760_1763dup (p.Leu589fs)
|
|
|
NM_000038.6(APC):c.1767_1783del (p.Leu589fs)
|
|
|
NM_000038.6(APC):c.1774_1787del (p.Leu592fs)
|
|
|
NM_000038.6(APC):c.1775T>G (p.Leu592Ter)
|
rs1764700195
|
|
NM_000038.6(APC):c.1778G>A (p.Trp593Ter)
|
rs1064794226
|
|
NM_000038.6(APC):c.1779G>A (p.Trp593Ter)
|
rs1554083132
|
|
NM_000038.6(APC):c.1781del (p.Asn594fs)
|
|
|
NM_000038.6(APC):c.1806_1809del (p.Asn602fs)
|
|
|
NM_000038.6(APC):c.1811dup (p.Ala604_Asp605insTer)
|
|
|
NM_000038.6(APC):c.1816dup (p.Ile606fs)
|
|
|
NM_000038.6(APC):c.1823_1824insA (p.Val609fs)
|
|
|
NM_000038.6(APC):c.1829del (p.Asp610fs)
|
rs1561568510
|
|
NM_000038.6(APC):c.1840dup (p.Ala614fs)
|
|
|
NM_000038.6(APC):c.184del (p.Ser62fs)
|
|
|
NM_000038.6(APC):c.1850_1853del (p.Val617fs)
|
|
|
NM_000038.6(APC):c.1854_1869del (p.Thr619fs)
|
rs1554083164
|
|
NM_000038.6(APC):c.1857del (p.Thr621fs)
|
|
|
NM_000038.6(APC):c.1861dup (p.Thr621fs)
|
rs1580604238
|
|
NM_000038.6(APC):c.1863_1866del (p.Tyr622fs)
|
rs1764719091
|
|
NM_000038.6(APC):c.1866C>A (p.Tyr622Ter)
|
rs876658355
|
|
NM_000038.6(APC):c.1866C>G (p.Tyr622Ter)
|
rs876658355
|
|
NM_000038.6(APC):c.1869del (p.Ser624fs)
|
|
|
NM_000038.6(APC):c.1873C>T (p.Gln625Ter)
|
rs876659517
|
|
NM_000038.6(APC):c.1873del (p.Gln625fs)
|
|
|
NM_000038.6(APC):c.1875_1878del (p.Asn627fs)
|
rs878853420
|
|
NM_000038.6(APC):c.1877_1878del (p.Thr626fs)
|
|
|
NM_000038.6(APC):c.1879_1880del (p.Asn627fs)
|
|
|
NM_000038.6(APC):c.1879_1882del (p.Asn627fs)
|
rs1060503360
|
|
NM_000038.6(APC):c.1880dup (p.Asn627fs)
|
|
|
NM_000038.6(APC):c.1885_1886del (p.Leu629fs)
|
|
|
NM_000038.6(APC):c.1885_1886insA (p.Leu629fs)
|
rs387906233
|
|
NM_000038.6(APC):c.1886T>A (p.Leu629Ter)
|
rs1019221239
|
|
NM_000038.6(APC):c.1886T>G (p.Leu629Ter)
|
rs1019221239
|
|
NM_000038.6(APC):c.1886del (p.Thr628_Leu629insTer)
|
rs863224817
|
|
NM_000038.6(APC):c.1886dup (p.Leu629fs)
|
rs863224817
|
|
NM_000038.6(APC):c.1892_1904delinsAAT (p.Ile631fs)
|
rs863225319
|
|
NM_000038.6(APC):c.18T>G (p.Tyr6Ter)
|
|
|
NM_000038.6(APC):c.1903G>T (p.Gly635Ter)
|
rs1554083205
|
|
NM_000038.6(APC):c.1907dup (p.Gly637fs)
|
|
|
NM_000038.6(APC):c.1908_1909dup (p.Gly637fs)
|
rs1764733583
|
|
NM_000038.6(APC):c.193C>T (p.Gln65Ter)
|
|
|
NM_000038.6(APC):c.1957A>C (p.Arg653=)
|
rs1114167580
|
|
NM_000038.6(APC):c.1957A>G (p.Arg653Gly)
|
rs1114167580
|
|
NM_000038.6(APC):c.1958+1G>A
|
rs1114167569
|
|
NM_000038.6(APC):c.1958+1G>T
|
|
|
NM_000038.6(APC):c.1958+1del
|
|
|
NM_000038.6(APC):c.1958+2T>A
|
|
|
NM_000038.6(APC):c.1958+2T>C
|
|
|
NM_000038.6(APC):c.1958+2T>G
|
rs2149844646
|
|
NM_000038.6(APC):c.1958+3A>G
|
rs879254032
|
|
NM_000038.6(APC):c.1958G>T (p.Arg653Met)
|
rs1060503318
|
|
NM_000038.6(APC):c.1958_1958+1insT
|
|
|
NM_000038.6(APC):c.1960C>T (p.Gln654Ter)
|
|
|
NM_000038.6(APC):c.1963del (p.Ile655fs)
|
|
|
NM_000038.6(APC):c.1968_1969del (p.Asn659fs)
|
rs1114167597
|
|
NM_000038.6(APC):c.1972_1975del (p.Glu658fs)
|
rs863225322
|
|
NM_000038.6(APC):c.1974_1975del (p.Asn659fs)
|
rs863225322
|
|
NM_000038.6(APC):c.1977del (p.Asn659fs)
|
|
|
NM_000038.6(APC):c.1979del (p.Asn660fs)
|
rs1580617162
|
|
NM_000038.6(APC):c.1984del (p.Leu662fs)
|
|
|
NM_000038.6(APC):c.1986_2013del (p.Gln663fs)
|
|
|
NM_000038.6(APC):c.1987C>T (p.Gln663Ter)
|
rs730881240
|
|
NM_000038.6(APC):c.1993_1994del (p.Leu665fs)
|
rs1580617349
|
|
NM_000038.6(APC):c.1994T>G (p.Leu665Ter)
|
rs1765084859
|
|
NM_000038.6(APC):c.1994_1996delinsG (p.Leu665fs)
|
|
|
NM_000038.6(APC):c.1994_2006del (p.Thr664_Leu665insTer)
|
|
|
NM_000038.6(APC):c.1999C>T (p.Gln667Ter)
|
rs876660130
|
|
NM_000038.6(APC):c.2004del (p.His668_Leu669insTer)
|
rs587782303
|
|
NM_000038.6(APC):c.2010del (p.Lys670fs)
|
|
|
NM_000038.6(APC):c.2010dup (p.Ser671fs)
|
|
|
NM_000038.6(APC):c.2011del (p.Ser671fs)
|
rs2149858700
|
|
NM_000038.6(APC):c.2016_2017del (p.His672fs)
|
rs2149858813
|
|
NM_000038.6(APC):c.2016del (p.His672fs)
|
|
|
NM_000038.6(APC):c.2020_2030del (p.Leu674fs)
|
|
|
NM_000038.6(APC):c.2031_2034del (p.Ser678fs)
|
rs878853422
|
|
NM_000038.6(APC):c.203T>G (p.Leu68Ter)
|
rs1554069549
|
|
NM_000038.6(APC):c.203del (p.Leu68fs)
|
rs1756331894
|
|
NM_000038.6(APC):c.2050_2051del (p.Leu684fs)
|
|
|
NM_000038.6(APC):c.2051T>A (p.Leu684Ter)
|
|
|
NM_000038.6(APC):c.2053_2054del (p.Trp685fs)
|
rs2149859523
|
|
NM_000038.6(APC):c.2054G>A (p.Trp685Ter)
|
rs2149859555
|
|
NM_000038.6(APC):c.2055G>A (p.Trp685Ter)
|
|
|
NM_000038.6(APC):c.2057del (p.Asn686fs)
|
rs1765098084
|
|
NM_000038.6(APC):c.2063C>G (p.Ser688Ter)
|
|
|
NM_000038.6(APC):c.2079dup (p.Asp694fs)
|
|
|
NM_000038.6(APC):c.2083C>T (p.Gln695Ter)
|
rs1439772141
|
|
NM_000038.6(APC):c.2083del (p.Gln695fs)
|
rs1554083941
|
|
NM_000038.6(APC):c.2093T>G (p.Leu698Ter)
|
rs137854582
|
|
NM_000038.6(APC):c.2096G>A (p.Trp699Ter)
|
rs1060503336
|
|
NM_000038.6(APC):c.2097G>A (p.Trp699Ter)
|
rs1060503282
|
|
NM_000038.6(APC):c.2100dup (p.Met701fs)
|
rs1561574860
|
|
NM_000038.6(APC):c.2138C>G (p.Ser713Ter)
|
rs137854570
|
|
NM_000038.6(APC):c.2145_2146del (p.His715fs)
|
|
|
NM_000038.6(APC):c.2149dup (p.Met717fs)
|
|
|
NM_000038.6(APC):c.2151del (p.Met717fs)
|
|
|
NM_000038.6(APC):c.2154del (p.Ile718fs)
|
|
|
NM_000038.6(APC):c.2156dup (p.Met720fs)
|
|
|
NM_000038.6(APC):c.2161G>T (p.Gly721Ter)
|
|
|
NM_000038.6(APC):c.2161_2170del (p.Gly721fs)
|
rs1554083981
|
|
NM_000038.6(APC):c.2177T>G (p.Leu726Ter)
|
rs2149862441
|
|
NM_000038.6(APC):c.2177dup (p.Leu726fs)
|
|
|
NM_000038.6(APC):c.2185_2336del (p.Leu729fs)
|
rs1554083990
|
|
NM_000038.6(APC):c.2186_2187del (p.Leu729fs)
|
|
|
NM_000038.6(APC):c.2191del (p.Ala731fs)
|
|
|
NM_000038.6(APC):c.2195del (p.Asn732fs)
|
|
|
NM_000038.6(APC):c.219del (p.Glu74fs)
|
rs1756336297
|
|
NM_000038.6(APC):c.2204_2208del (p.Ala735fs)
|
|
|
NM_000038.6(APC):c.220G>T (p.Glu74Ter)
|
rs876658941
|
|
NM_000038.6(APC):c.2211C>A (p.Tyr737Ter)
|
rs1765131004
|
|
NM_000038.6(APC):c.2211C>G (p.Tyr737Ter)
|
rs1765131004
|
|
NM_000038.6(APC):c.2212A>T (p.Lys738Ter)
|
|
|
NM_000038.6(APC):c.2237del (p.Gly746fs)
|
|
|
NM_000038.6(APC):c.2240C>A (p.Ser747Ter)
|
|
|
NM_000038.6(APC):c.2240C>G (p.Ser747Ter)
|
rs773020689
|
|
NM_000038.6(APC):c.2255_2256del (p.Leu752fs)
|
|
|
NM_000038.6(APC):c.2258del (p.His753fs)
|
|
|
NM_000038.6(APC):c.2265_2275del (p.Arg755fs)
|
|
|
NM_000038.6(APC):c.2269C>T (p.Gln757Ter)
|
|
|
NM_000038.6(APC):c.2274del (p.Ala759fs)
|
|
|
NM_000038.6(APC):c.2275_2282del (p.Ala759fs)
|
|
|
NM_000038.6(APC):c.2296dup (p.Ala766fs)
|
|
|
NM_000038.6(APC):c.2299C>T (p.Gln767Ter)
|
rs1561575998
|
|
NM_000038.6(APC):c.2304del (p.Leu769fs)
|
|
|
NM_000038.6(APC):c.2307dup (p.Ser770fs)
|
|
|
NM_000038.6(APC):c.2309C>A (p.Ser770Ter)
|
|
|
NM_000038.6(APC):c.2309C>G (p.Ser770Ter)
|
rs1060503310
|
|
NM_000038.6(APC):c.2314del (p.Thr772fs)
|
rs878853426
|
|
NM_000038.6(APC):c.2315del (p.Thr772fs)
|
|
|
NM_000038.6(APC):c.2319del (p.Phe773fs)
|
rs2149866222
|
|
NM_000038.6(APC):c.2320_2323dup (p.Asn775fs)
|
|
|
NM_000038.6(APC):c.2325del (p.Asn775fs)
|
rs863225328
|
|
NM_000038.6(APC):c.2333del (p.Asn778fs)
|
|
|
NM_000038.6(APC):c.2335_2336dup (p.Leu779fs)
|
|
|
NM_000038.6(APC):c.2336del (p.Asn778_Leu779insTer)
|
rs1554084079
|
|
NM_000038.6(APC):c.2336dup (p.Leu779fs)
|
rs1554084079
|
|
NM_000038.6(APC):c.233_236del (p.Asp78fs)
|
rs1064793020
|
|
NM_000038.6(APC):c.2343del (p.Lys782fs)
|
rs1554084080
|
|
NM_000038.6(APC):c.2345del (p.Lys782fs)
|
|
|
NM_000038.6(APC):c.234_235insCT (p.Ser79fs)
|
|
|
NM_000038.6(APC):c.2351dup (p.His785fs)
|
|
|
NM_000038.6(APC):c.2359_2360del (p.Arg786_Ser787insTer)
|
|
|
NM_000038.6(APC):c.2362A>T (p.Lys788Ter)
|
|
|
NM_000038.6(APC):c.2365C>T (p.Gln789Ter)
|
rs398123117
|
|
NM_000038.6(APC):c.2377C>T (p.Gln793Ter)
|
rs2149867683
|
|
NM_000038.6(APC):c.2385_2386del (p.Tyr796fs)
|
rs1561576666
|
|
NM_000038.6(APC):c.2387_2388del (p.Tyr796fs)
|
rs1765168337
|
|
NM_000038.6(APC):c.2396_2397del (p.Tyr799fs)
|
|
|
NM_000038.6(APC):c.23_31delinsC (p.Gln8fs)
|
|
|
NM_000038.6(APC):c.2403dup (p.Asp802Ter)
|
|
|
NM_000038.6(APC):c.2413C>T (p.Arg805Ter)
|
rs587779783
|
|
NM_000038.6(APC):c.2434_2437del (p.Asp812fs)
|
rs1131691136
|
|
NM_000038.6(APC):c.2438del (p.Asn813fs)
|
|
|
NM_000038.6(APC):c.2441_2442del (p.Asn813_Phe814insTer)
|
|
|
NM_000038.6(APC):c.2448dup (p.Gly817fs)
|
|
|
NM_000038.6(APC):c.2466_2467insA (p.Ser823fs)
|
rs1561577342
|
|
NM_000038.6(APC):c.2468C>A (p.Ser823Ter)
|
|
|
NM_000038.6(APC):c.2468C>G (p.Ser823Ter)
|
|
|
NM_000038.6(APC):c.2480_2481insAT (p.Asn827fs)
|
|
|
NM_000038.6(APC):c.2483del (p.Thr828fs)
|
rs886042600
|
|
NM_000038.6(APC):c.2486_2487del (p.Thr829fs)
|
|
|
NM_000038.6(APC):c.2486del (p.Thr829fs)
|
|
|
NM_000038.6(APC):c.2493dup (p.Pro832fs)
|
rs2149870906
|
|
NM_000038.6(APC):c.2496del (p.Ser833fs)
|
|
|
NM_000038.6(APC):c.2498_2503delinsTCAAGAGGATGTTA (p.Ser833fs)
|
|
|
NM_000038.6(APC):c.249del (p.Gly84fs)
|
rs878853428
|
|
NM_000038.6(APC):c.2506_2524delinsGA (p.Ser836fs)
|
|
|
NM_000038.6(APC):c.2507C>A (p.Ser836Ter)
|
rs1580623270
|
|
NM_000038.6(APC):c.2507C>G (p.Ser836Ter)
|
|
|
NM_000038.6(APC):c.2516_2528del (p.Gly839fs)
|
|
|
NM_000038.6(APC):c.2527_2530del (p.Ser843fs)
|
rs879254091
|
|
NM_000038.6(APC):c.2536del (p.Ser846fs)
|
rs1580623656
|
|
NM_000038.6(APC):c.2537_2543del (p.Arg845_Ser846insTer)
|
|
|
NM_000038.6(APC):c.2538del (p.Glu847fs)
|
|
|
NM_000038.6(APC):c.2544del (p.Asp849fs)
|
|
|
NM_000038.6(APC):c.2544dup (p.Asp849fs)
|
rs2149871984
|
|
NM_000038.6(APC):c.2547_2548del (p.Asp849fs)
|
|
|
NM_000038.6(APC):c.2547_2550del (p.Asp849fs)
|
rs398123118
|
|
NM_000038.6(APC):c.254del (p.Val85fs)
|
rs2149787843
|
|
NM_000038.6(APC):c.254dup (p.Leu87fs)
|
|
|
NM_000038.6(APC):c.2555T>A (p.Leu852Ter)
|
rs1405022793
|
|
NM_000038.6(APC):c.2563G>T (p.Glu855Ter)
|
|
|
NM_000038.6(APC):c.2567dup (p.Gly857fs)
|
rs1554084266
|
|
NM_000038.6(APC):c.2570del (p.Gly857fs)
|
rs876658472
|
|
NM_000038.6(APC):c.2572del (p.Ile858fs)
|
|
|
NM_000038.6(APC):c.2587_2600del (p.Tyr863fs)
|
rs1580624327
|
|
NM_000038.6(APC):c.258del (p.Lys86fs)
|
|
|
NM_000038.6(APC):c.258dup (p.Leu87fs)
|
rs1114167546
|
|
NM_000038.6(APC):c.2598_2599delinsC (p.Thr867fs)
|
|
|
NM_000038.6(APC):c.2618_2620delinsTG (p.Ser873fs)
|
|
|
NM_000038.6(APC):c.2621C>G (p.Ser874Ter)
|
rs1554084318
|
|
NM_000038.6(APC):c.2623A>T (p.Lys875Ter)
|
|
|
NM_000038.6(APC):c.2626C>T (p.Arg876Ter)
|
rs121913333
|
|
NM_000038.6(APC):c.2630del (p.Gly877fs)
|
|
|
NM_000038.6(APC):c.2635C>T (p.Gln879Ter)
|
rs1060503287
|
|
NM_000038.6(APC):c.2652dup (p.Ala885fs)
|
rs1561578684
|
|
NM_000038.6(APC):c.2666_2667del (p.Lys889fs)
|
rs1580625495
|
|
NM_000038.6(APC):c.266C>A (p.Ser89Ter)
|
rs876658846
|
|
NM_000038.6(APC):c.266C>G (p.Ser89Ter)
|
rs876658846
|
|
NM_000038.6(APC):c.2677G>T (p.Glu893Ter)
|
rs199740875
|
|
NM_000038.6(APC):c.2680_2686dup (p.Ala896fs)
|
rs587781910
|
|
NM_000038.6(APC):c.2681_2683delinsGTATG (p.Val894fs)
|
rs1580625739
|
|
NM_000038.6(APC):c.2684C>G (p.Ser895Ter)
|
rs2149875189
|
|
NM_000038.6(APC):c.2686_2689dup (p.Ile897fs)
|
rs1554084375
|
|
NM_000038.6(APC):c.2688del (p.Ile897fs)
|
|
|
NM_000038.6(APC):c.268A>T (p.Lys90Ter)
|
|
|
NM_000038.6(APC):c.2700_2701del (p.Gln901fs)
|
|
|
NM_000038.6(APC):c.2701C>T (p.Gln901Ter)
|
rs1114167559
|
|
NM_000038.6(APC):c.2711_2712del (p.Arg904fs)
|
rs1554084403
|
|
NM_000038.6(APC):c.2735T>G (p.Leu912Ter)
|
|
|
NM_000038.6(APC):c.2736del (p.Leu912fs)
|
|
|
NM_000038.6(APC):c.2738dup (p.His913fs)
|
|
|
NM_000038.6(APC):c.2752G>T (p.Glu918Ter)
|
|
|
NM_000038.6(APC):c.2759del (p.Asn920fs)
|
rs863225331
|
|
NM_000038.6(APC):c.2764_2765insCT (p.Leu922fs)
|
|
|
NM_000038.6(APC):c.2767A>T (p.Arg923Ter)
|
|
|
NM_000038.6(APC):c.2777_2778dup (p.Ala927fs)
|
|
|
NM_000038.6(APC):c.277del (p.Leu93fs)
|
rs1580328099
|
|
NM_000038.6(APC):c.2793_2796del (p.His931fs)
|
rs1765265441
|
|
NM_000038.6(APC):c.2795C>G (p.Ser932Ter)
|
rs878853432
|
|
NM_000038.6(APC):c.2797_2800del (p.Asn933fs)
|
|
|
NM_000038.6(APC):c.2802_2805del (p.Tyr935fs)
|
rs1131691143
|
|
NM_000038.6(APC):c.2803dup (p.Tyr935fs)
|
|
|
NM_000038.6(APC):c.2804dup (p.Tyr935Ter)
|
rs863225332
|
|
NM_000038.6(APC):c.2805C>A (p.Tyr935Ter)
|
rs137854575
|
|
NM_000038.6(APC):c.2805C>G (p.Tyr935Ter)
|
rs137854575
|
|
NM_000038.6(APC):c.2805del (p.Thr934_Tyr935insTer)
|
rs398123120
|
|
NM_000038.6(APC):c.2806_2813dup (p.Lys939fs)
|
rs863225333
|
|
NM_000038.6(APC):c.2807del (p.Asn936fs)
|
|
|
NM_000038.6(APC):c.2821G>T (p.Glu941Ter)
|
|
|
NM_000038.6(APC):c.2828C>G (p.Ser943Ter)
|
rs1554084512
|
|
NM_000038.6(APC):c.2841T>A (p.Cys947Ter)
|
|
|
NM_000038.6(APC):c.2843del (p.Ser948fs)
|
|
|
NM_000038.6(APC):c.2844_2847dup (p.Pro950fs)
|
rs1580628041
|
|
NM_000038.6(APC):c.2845_2846dup (p.Met949fs)
|
|
|
NM_000038.6(APC):c.2851del (p.Tyr951fs)
|
|
|
NM_000038.6(APC):c.2859dup (p.Leu954fs)
|
rs1554084547
|
|
NM_000038.6(APC):c.2863G>T (p.Glu955Ter)
|
|
|
NM_000038.6(APC):c.2863del (p.Glu955fs)
|
rs1554084553
|
|
NM_000038.6(APC):c.2868C>G (p.Tyr956Ter)
|
rs2149879114
|
|
NM_000038.6(APC):c.2869A>T (p.Lys957Ter)
|
|
|
NM_000038.6(APC):c.2869_2870del (p.Lys957fs)
|
|
|
NM_000038.6(APC):c.2879C>G (p.Ser960Ter)
|
|
|
NM_000038.6(APC):c.2884del (p.Asp962fs)
|
rs1561580546
|
|
NM_000038.6(APC):c.2888_2892del (p.Ser963fs)
|
|
|
NM_000038.6(APC):c.288T>A (p.Tyr96Ter)
|
rs376213437
|
|
NM_000038.6(APC):c.288T>G (p.Tyr96Ter)
|
rs376213437
|
|
NM_000038.6(APC):c.2890_2896del (p.Leu964fs)
|
|
|
NM_000038.6(APC):c.2891T>A (p.Leu964Ter)
|
|
|
NM_000038.6(APC):c.2892_2893insT (p.Asn965Ter)
|
|
|
NM_000038.6(APC):c.2894del (p.Asn965fs)
|
rs1554084575
|
|
NM_000038.6(APC):c.289G>T (p.Gly97Ter)
|
|
|
NM_000038.6(APC):c.2907_2911dup (p.Asp971fs)
|
|
|
NM_000038.6(APC):c.290del (p.Gly97fs)
|
|
|
NM_000038.6(APC):c.2912dup (p.Asp971fs)
|
|
|
NM_000038.6(APC):c.2915_2916del (p.Gly972fs)
|
|
|
NM_000038.6(APC):c.2917dup (p.Tyr973fs)
|
|
|
NM_000038.6(APC):c.2921dup (p.Gly974_Lys975insTer)
|
|
|
NM_000038.6(APC):c.2925_2926del (p.Gly977fs)
|
|
|
NM_000038.6(APC):c.2926del (p.Arg976fs)
|
rs1554084587
|
|
NM_000038.6(APC):c.2932C>T (p.Gln978Ter)
|
|
|
NM_000038.6(APC):c.2943_2945delinsTT (p.Pro981_Ser982insTer)
|
|
|
NM_000038.6(APC):c.2944del (p.Ser982fs)
|
|
|
NM_000038.6(APC):c.2945del (p.Pro981_Ser982insTer)
|
|
|
NM_000038.6(APC):c.2950G>T (p.Glu984Ter)
|
rs1254176854
|
|
NM_000038.6(APC):c.2970del (p.Asp990fs)
|
|
|
NM_000038.6(APC):c.2971G>T (p.Glu991Ter)
|
rs786202995
|
|
NM_000038.6(APC):c.2974del (p.Ser992fs)
|
|
|
NM_000038.6(APC):c.2976dup (p.Lys993Ter)
|
|
|
NM_000038.6(APC):c.2987del (p.Ser996fs)
|
|
|
NM_000038.6(APC):c.298G>T (p.Glu100Ter)
|
|
|
NM_000038.6(APC):c.298del (p.Glu100fs)
|
rs1064794224
|
|
NM_000038.6(APC):c.2995C>T (p.Gln999Ter)
|
rs75239284
|
|
NM_000038.6(APC):c.3000C>A (p.Tyr1000Ter)
|
rs1580629755
|
|
NM_000038.6(APC):c.3000C>G (p.Tyr1000Ter)
|
|
|
NM_000038.6(APC):c.3002del (p.Pro1001fs)
|
rs1114167586
|
|
NM_000038.6(APC):c.301G>T (p.Gly101Ter)
|
rs863225335
|
|
NM_000038.6(APC):c.3040dup (p.Met1014fs)
|
|
|
NM_000038.6(APC):c.3055G>T (p.Gly1019Ter)
|
|
|
NM_000038.6(APC):c.3062_3068del (p.Leu1021fs)
|
|
|
NM_000038.6(APC):c.3068del (p.Thr1023fs)
|
|
|
NM_000038.6(APC):c.3069del (p.Pro1024fs)
|
|
|
NM_000038.6(APC):c.3079dup (p.Tyr1027fs)
|
rs863225337
|
|
NM_000038.6(APC):c.3086_3087del (p.Leu1029fs)
|
|
|
NM_000038.6(APC):c.3090dup (p.Tyr1031fs)
|
rs1554084685
|
|
NM_000038.6(APC):c.3093T>G (p.Tyr1031Ter)
|
|
|
NM_000038.6(APC):c.3095C>G (p.Ser1032Ter)
|
|
|
NM_000038.6(APC):c.3103C>T (p.Gln1035Ter)
|
rs2149884384
|
|
NM_000038.6(APC):c.310dup (p.Ser104fs)
|
|
|
NM_000038.6(APC):c.311C>A (p.Ser104Ter)
|
rs74953290
|
|
NM_000038.6(APC):c.311C>G (p.Ser104Ter)
|
rs74953290
|
|
NM_000038.6(APC):c.3121C>T (p.Gln1041Ter)
|
rs1580631181
|
|
NM_000038.6(APC):c.3123_3124del (p.Pro1043fs)
|
rs1554084712
|
|
NM_000038.6(APC):c.3133C>T (p.Gln1045Ter)
|
rs2149885099
|
|
NM_000038.6(APC):c.3138del (p.Asn1046fs)
|
|
|
NM_000038.6(APC):c.3146G>A (p.Trp1049Ter)
|
rs876658667
|
|
NM_000038.6(APC):c.3147G>A (p.Trp1049Ter)
|
rs863225340
|
|
NM_000038.6(APC):c.3162_3163del (p.Ile1055fs)
|
|
|
NM_000038.6(APC):c.3164_3165del (p.Ile1055fs)
|
|
|
NM_000038.6(APC):c.3164_3168del (p.Ile1055fs)
|
rs1554084772
|
|
NM_000038.6(APC):c.3165_3168del (p.Ile1055fs)
|
rs1765350227
|
|
NM_000038.6(APC):c.3173dup (p.Asp1058fs)
|
|
|
NM_000038.6(APC):c.3175G>T (p.Glu1059Ter)
|
|
|
NM_000038.6(APC):c.3175_3179del (p.Glu1059fs)
|
|
|
NM_000038.6(APC):c.3183_3187del (p.Lys1061_Gln1062insTer)
|
rs587779352
|
|
NM_000038.6(APC):c.3183del (p.Lys1061fs)
|
|
|
NM_000038.6(APC):c.3183dup (p.Gln1062fs)
|
rs1114167582
|
|
NM_000038.6(APC):c.3184C>T (p.Gln1062Ter)
|
rs1554084818
|
|
NM_000038.6(APC):c.3184_3187del (p.Gln1062fs)
|
rs1114167551
|
|
NM_000038.6(APC):c.3184_3200dup (p.Gln1067fs)
|
|
|
NM_000038.6(APC):c.3186_3187del (p.Gln1062_Ser1063insTer)
|
rs1060503362
|
|
NM_000038.6(APC):c.3187del (p.Ser1063fs)
|
|
|
NM_000038.6(APC):c.3189_3192del (p.Glu1064fs)
|
rs1580632210
|
|
NM_000038.6(APC):c.3196del (p.Arg1066fs)
|
rs878853436
|
|
NM_000038.6(APC):c.3196dup (p.Arg1066fs)
|
|
|
NM_000038.6(APC):c.3197dup (p.Gln1067fs)
|
|
|
NM_000038.6(APC):c.3199C>T (p.Gln1067Ter)
|
rs137854571
|
|
NM_000038.6(APC):c.3199_3200del (p.Gln1067fs)
|
|
|
NM_000038.6(APC):c.3199delinsGTCT (p.Gln1067delinsValTer)
|
|
|
NM_000038.6(APC):c.3202_3205del (p.Ser1068fs)
|
rs587779353
|
|
NM_000038.6(APC):c.3203C>A (p.Ser1068Ter)
|
rs1554084848
|
|
NM_000038.6(APC):c.3203C>G (p.Ser1068Ter)
|
rs1554084848
|
|
NM_000038.6(APC):c.3206_3213del (p.Arg1069fs)
|
|
|
NM_000038.6(APC):c.3209dup (p.Asn1070fs)
|
|
|
NM_000038.6(APC):c.3211C>T (p.Gln1071Ter)
|
rs876659539
|
|
NM_000038.6(APC):c.3214del (p.Ser1072fs)
|
rs1765366028
|
|
NM_000038.6(APC):c.3216_3217dup (p.Thr1073fs)
|
|
|
NM_000038.6(APC):c.3224del (p.Tyr1075fs)
|
rs1765368708
|
|
NM_000038.6(APC):c.3224dup (p.Tyr1075Ter)
|
rs1765368437
|
|
NM_000038.6(APC):c.3225T>A (p.Tyr1075Ter)
|
rs768123840
|
|
NM_000038.6(APC):c.3225del (p.Pro1076fs)
|
|
|
NM_000038.6(APC):c.323dup (p.Glu109fs)
|
|
|
NM_000038.6(APC):c.3249_3250insTA (p.Asp1084Ter)
|
|
|
NM_000038.6(APC):c.3252dup (p.Lys1085Ter)
|
rs2149887995
|
|
NM_000038.6(APC):c.3255dup (p.His1086fs)
|
|
|
NM_000038.6(APC):c.3256_3263dup (p.Lys1088fs)
|
|
|
NM_000038.6(APC):c.3260_3261del (p.Leu1087fs)
|
rs587782305
|
|
NM_000038.6(APC):c.3264del (p.Lys1088fs)
|
rs1554084885
|
|
NM_000038.6(APC):c.3268C>T (p.Gln1090Ter)
|
rs1580633219
|
|
NM_000038.6(APC):c.3279del (p.Phe1093fs)
|
|
|
NM_000038.6(APC):c.3283C>T (p.Gln1095Ter)
|
rs2149888710
|
|
NM_000038.6(APC):c.3286C>T (p.Gln1096Ter)
|
rs587783029
|
|
NM_000038.6(APC):c.3286_3308del (p.Gln1096fs)
|
|
|
NM_000038.6(APC):c.3287_3288del (p.Gln1096fs)
|
|
|
NM_000038.6(APC):c.3293del (p.Cys1098fs)
|
|
|
NM_000038.6(APC):c.3295_3296del (p.Val1099fs)
|
rs1064794228
|
|
NM_000038.6(APC):c.3298del (p.Ser1100fs)
|
|
|
NM_000038.6(APC):c.3304_3307del (p.Tyr1102fs)
|
rs863225342
|
|
NM_000038.6(APC):c.3304del (p.Tyr1102fs)
|
|
|
NM_000038.6(APC):c.3306C>A (p.Tyr1102Ter)
|
rs879254092
|
|
NM_000038.6(APC):c.3306C>G (p.Tyr1102Ter)
|
rs879254092
|
|
NM_000038.6(APC):c.3306_3307del (p.Tyr1102_Arg1103delinsTer)
|
|
|
NM_000038.6(APC):c.3311C>A (p.Ser1104Ter)
|
rs1580633796
|
|
NM_000038.6(APC):c.3311dup (p.Arg1105fs)
|
|
|
NM_000038.6(APC):c.3317dup (p.Ala1107fs)
|
|
|
NM_000038.6(APC):c.3325_3326del (p.Gly1109fs)
|
|
|
NM_000038.6(APC):c.3328del (p.Ser1110fs)
|
|
|
NM_000038.6(APC):c.3329C>G (p.Ser1110Ter)
|
rs1580634079
|
|
NM_000038.6(APC):c.3336_3340del (p.Asn1113fs)
|
rs1580634177
|
|
NM_000038.6(APC):c.3340C>T (p.Arg1114Ter)
|
rs121913331
|
|
NM_000038.6(APC):c.3343del (p.Val1115fs)
|
rs1554084945
|
|
NM_000038.6(APC):c.3349del (p.Ser1117fs)
|
|
|
NM_000038.6(APC):c.3363del (p.Asn1122fs)
|
|
|
NM_000038.6(APC):c.3367C>T (p.Gln1123Ter)
|
rs1580634617
|
|
NM_000038.6(APC):c.3379C>T (p.Gln1127Ter)
|
rs1765409926
|
|
NM_000038.6(APC):c.3385_3386del (p.Leu1129fs)
|
rs1114167616
|
|
NM_000038.6(APC):c.3385_3386insA (p.Leu1129fs)
|
|
|
NM_000038.6(APC):c.3391C>T (p.Gln1131Ter)
|
rs878853438
|
|
NM_000038.6(APC):c.3404_3405del (p.Asp1134_Tyr1135insTer)
|
rs864622086
|
|
NM_000038.6(APC):c.3404_3405dup (p.Glu1136fs)
|
|
|
NM_000038.6(APC):c.341del (p.Pro114fs)
|
rs1064793021
|
|
NM_000038.6(APC):c.3425dup (p.Asn1142fs)
|
|
|
NM_000038.6(APC):c.3426_3427dup (p.Tyr1143fs)
|
|
|
NM_000038.6(APC):c.3429T>A (p.Tyr1143Ter)
|
|
|
NM_000038.6(APC):c.3439dup (p.Tyr1147fs)
|
|
|
NM_000038.6(APC):c.3440dup (p.Tyr1147Ter)
|
|
|
NM_000038.6(APC):c.3441C>G (p.Tyr1147Ter)
|
rs2149891970
|
|
NM_000038.6(APC):c.3443_3444del (p.Tyr1147_Ser1148insTer)
|
rs1765424969
|
|
NM_000038.6(APC):c.3446_3453del (p.Glu1149fs)
|
|
|
NM_000038.6(APC):c.3454C>T (p.Gln1152Ter)
|
rs1064795228
|
|
NM_000038.6(APC):c.3454dup (p.Gln1152fs)
|
|
|
NM_000038.6(APC):c.3455del (p.Gln1152fs)
|
|
|
NM_000038.6(APC):c.3460G>T (p.Glu1154Ter)
|
|
|
NM_000038.6(APC):c.3466_3469del (p.Glu1156fs)
|
|
|
NM_000038.6(APC):c.3467_3470del (p.Glu1156fs)
|
rs1554085029
|
|
NM_000038.6(APC):c.3468_3472del (p.Glu1157fs)
|
|
|
NM_000038.6(APC):c.3469G>T (p.Glu1157Ter)
|
|
|
NM_000038.6(APC):c.3470del (p.Glu1157fs)
|
|
|
NM_000038.6(APC):c.3471_3474del (p.Glu1157fs)
|
rs786203020
|
|
NM_000038.6(APC):c.3472A>T (p.Arg1158Ter)
|
rs587779790
|
|
NM_000038.6(APC):c.3473_3474del (p.Arg1158fs)
|
rs786203020
|
|
NM_000038.6(APC):c.3473_3474dup (p.Pro1159fs)
|
rs786203020
|
|
NM_000038.6(APC):c.3485del (p.Tyr1162fs)
|
|
|
NM_000038.6(APC):c.3486_3487del (p.Tyr1162_Ser1163delinsTer)
|
rs786202348
|
|
NM_000038.6(APC):c.3488_3492del (p.Ser1163fs)
|
rs1561585111
|
|
NM_000038.6(APC):c.3497_3501del (p.Lys1165_Tyr1166insTer)
|
rs1554085053
|
|
NM_000038.6(APC):c.3502G>T (p.Glu1168Ter)
|
|
|
NM_000038.6(APC):c.3502del (p.Glu1168fs)
|
|
|
NM_000038.6(APC):c.3505_3509del (p.Glu1169fs)
|
rs2149893274
|
|
NM_000038.6(APC):c.350C>A (p.Ser117Ter)
|
rs1064793535
|
|
NM_000038.6(APC):c.3510dup (p.Arg1171fs)
|
|
|
NM_000038.6(APC):c.3523C>T (p.Gln1175Ter)
|
rs1554085081
|
|
NM_000038.6(APC):c.3524del (p.Gln1175fs)
|
|
|
NM_000038.6(APC):c.3535dup (p.Tyr1179fs)
|
rs863225343
|
|
NM_000038.6(APC):c.3539_3548del (p.Ser1180fs)
|
|
|
NM_000038.6(APC):c.3542T>A (p.Leu1181Ter)
|
rs1554085102
|
|
NM_000038.6(APC):c.3542del (p.Ser1180_Leu1181insTer)
|
|
|
NM_000038.6(APC):c.3556_3560del (p.Asp1186fs)
|
rs1765456344
|
|
NM_000038.6(APC):c.3563_3566del (p.Pro1188fs)
|
|
|
NM_000038.6(APC):c.3563dup (p.Ser1189fs)
|
|
|
NM_000038.6(APC):c.3566C>A (p.Ser1189Ter)
|
|
|
NM_000038.6(APC):c.3571C>T (p.Gln1191Ter)
|
rs1114167547
|
|
NM_000038.6(APC):c.3573_3574del (p.Lys1192fs)
|
|
|
NM_000038.6(APC):c.3577C>T (p.Gln1193Ter)
|
rs1554085128
|
|
NM_000038.6(APC):c.3577_3578del (p.Gln1193fs)
|
rs1060503326
|
|
NM_000038.6(APC):c.3578del (p.Gln1193fs)
|
rs1554085131
|
|
NM_000038.6(APC):c.3578dup (p.Ser1194fs)
|
|
|
NM_000038.6(APC):c.3586dup (p.Ser1196fs)
|
|
|
NM_000038.6(APC):c.3588_3598delinsT (p.Phe1197fs)
|
|
|
NM_000038.6(APC):c.3593C>G (p.Ser1198Ter)
|
rs879254089
|
|
NM_000038.6(APC):c.3595_3596del (p.Lys1199fs)
|
rs864622106
|
|
NM_000038.6(APC):c.3595_3596dup (p.Ser1200fs)
|
|
|
NM_000038.6(APC):c.3595_3598del (p.Lys1199fs)
|
|
|
NM_000038.6(APC):c.3596dup (p.Ser1200fs)
|
rs864622106
|
|
NM_000038.6(APC):c.3602del (p.Ser1201fs)
|
|
|
NM_000038.6(APC):c.3610C>T (p.Gln1204Ter)
|
|
|
NM_000038.6(APC):c.3616dup (p.Ser1206fs)
|
rs2149895625
|
|
NM_000038.6(APC):c.3617del (p.Ser1206fs)
|
|
|
NM_000038.6(APC):c.3618dup (p.Lys1207Ter)
|
rs1765476401
|
|
NM_000038.6(APC):c.3631_3632del (p.Met1211fs)
|
rs1554085190
|
|
NM_000038.6(APC):c.3636_3637del (p.Ser1213fs)
|
|
|
NM_000038.6(APC):c.3638C>G (p.Ser1213Ter)
|
rs1554085199
|
|
NM_000038.6(APC):c.363del (p.Phe123fs)
|
|
|
NM_000038.6(APC):c.3640_3643del (p.Ser1214fs)
|
|
|
NM_000038.6(APC):c.3642del (p.Ser1214fs)
|
rs2149896180
|
|
NM_000038.6(APC):c.3646dup (p.Glu1216fs)
|
|
|
NM_000038.6(APC):c.3652dup (p.Thr1218fs)
|
|
|
NM_000038.6(APC):c.3653del (p.Thr1218fs)
|
rs2149896379
|
|
NM_000038.6(APC):c.3665C>A (p.Ser1222Ter)
|
rs1114167614
|
|
NM_000038.6(APC):c.3667_3670dup (p.Asn1224delinsIleTer)
|
|
|
NM_000038.6(APC):c.3670_3671dup (p.Asn1224fs)
|
rs1561586671
|
|
NM_000038.6(APC):c.3682C>T (p.Gln1228Ter)
|
rs1554085227
|
|
NM_000038.6(APC):c.3688C>T (p.Gln1230Ter)
|
rs863225344
|
|
NM_000038.6(APC):c.3688del (p.Gln1230fs)
|
rs2149897052
|
|
NM_000038.6(APC):c.3708dup (p.Gln1237fs)
|
|
|
NM_000038.6(APC):c.3709_3710del (p.Gln1237fs)
|
rs1554085246
|
|
NM_000038.6(APC):c.3714del (p.Ser1238fs)
|
|
|
NM_000038.6(APC):c.3724C>T (p.Gln1242Ter)
|
rs1460397656
|
|
NM_000038.6(APC):c.3747C>A (p.Cys1249Ter)
|
rs2149898263
|
|
NM_000038.6(APC):c.3748_3752del (p.Lys1250fs)
|
|
|
NM_000038.6(APC):c.3754del (p.Ser1252fs)
|
|
|
NM_000038.6(APC):c.3757del (p.Ser1253fs)
|
rs1114167571
|
|
NM_000038.6(APC):c.3758del (p.Ser1253fs)
|
|
|
NM_000038.6(APC):c.3778C>T (p.Gln1260Ter)
|
|
|
NM_000038.6(APC):c.3783_3784del (p.Tyr1262fs)
|
rs1554085303
|
|
NM_000038.6(APC):c.3784del (p.Tyr1262fs)
|
rs2149898912
|
|
NM_000038.6(APC):c.3785dup (p.Tyr1262Ter)
|
rs863225345
|
|
NM_000038.6(APC):c.3786T>G (p.Tyr1262Ter)
|
rs147411334
|
|
NM_000038.6(APC):c.3787del (p.Cys1263fs)
|
|
|
NM_000038.6(APC):c.3792_3810del (p.Glu1265fs)
|
|
|
NM_000038.6(APC):c.3793G>T (p.Glu1265Ter)
|
|
|
NM_000038.6(APC):c.3804_3806delinsG (p.Ile1269fs)
|
|
|
NM_000038.6(APC):c.3807_3808del (p.Ile1269fs)
|
rs786203760
|
|
NM_000038.6(APC):c.3810T>A (p.Cys1270Ter)
|
rs863225347
|
|
NM_000038.6(APC):c.3814del (p.Ser1272fs)
|
rs587783033
|
|
NM_000038.6(APC):c.3815C>A (p.Ser1272Ter)
|
|
|
NM_000038.6(APC):c.3815C>G (p.Ser1272Ter)
|
rs863225348
|
|
NM_000038.6(APC):c.3817del (p.Arg1273fs)
|
|
|
NM_000038.6(APC):c.3819_3823dup (p.Ser1275fs)
|
|
|
NM_000038.6(APC):c.3827C>G (p.Ser1276Ter)
|
rs1060503299
|
|
NM_000038.6(APC):c.3839del (p.Leu1280fs)
|
rs1765534642
|
|
NM_000038.6(APC):c.383del (p.Arg128fs)
|
|
|
NM_000038.6(APC):c.3845C>G (p.Ser1282Ter)
|
rs1765536690
|
|
NM_000038.6(APC):c.3856G>T (p.Glu1286Ter)
|
|
|
NM_000038.6(APC):c.385G>T (p.Glu129Ter)
|
|
|
NM_000038.6(APC):c.3863del (p.Gly1288fs)
|
|
|
NM_000038.6(APC):c.3867T>A (p.Cys1289Ter)
|
rs1554085355
|
|
NM_000038.6(APC):c.386_387insT (p.Glu129fs)
|
rs1554069831
|
|
NM_000038.6(APC):c.3872del (p.Gln1291fs)
|
|
|
NM_000038.6(APC):c.3875_3882delinsAGATGAAATAGGATGTAAGCA (p.Thr1292_Gln1294delinsLysMetLysTer)
|
rs1765543308
|
|
NM_000038.6(APC):c.3880C>T (p.Gln1294Ter)
|
rs1554085373
|
|
NM_000038.6(APC):c.3883_3886del (p.Glu1295fs)
|
|
|
NM_000038.6(APC):c.388del (p.Ser130fs)
|
rs1554069828
|
|
NM_000038.6(APC):c.3890del (p.Asp1297fs)
|
|
|
NM_000038.6(APC):c.3892dup (p.Ser1298fs)
|
rs1580641218
|
|
NM_000038.6(APC):c.3893del (p.Ser1298fs)
|
|
|
NM_000038.6(APC):c.3894del (p.Ala1299fs)
|
|
|
NM_000038.6(APC):c.3897dup (p.Asn1300Ter)
|
|
|
NM_000038.6(APC):c.3901dup (p.Thr1301fs)
|
rs1554085382
|
|
NM_000038.6(APC):c.3904del (p.Leu1302fs)
|
rs1064794042
|
|
NM_000038.6(APC):c.3907C>T (p.Gln1303Ter)
|
rs2149901776
|
|
NM_000038.6(APC):c.3920_3923del (p.Ile1307fs)
|
|
|
NM_000038.6(APC):c.3920_3924del (p.Ile1307fs)
|
rs1064794229
|
|
NM_000038.6(APC):c.3921_3924del (p.Ile1307fs)
|
rs863224457
|
|
NM_000038.6(APC):c.3924del (p.Glu1309fs)
|
|
|
NM_000038.6(APC):c.3925G>T (p.Glu1309Ter)
|
rs1321583762
|
|
NM_000038.6(APC):c.3925_3928del (p.Glu1309fs)
|
rs876659647
|
|
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs)
|
rs121913224
|
|
NM_000038.6(APC):c.3928A>T (p.Lys1310Ter)
|
rs2149902263
|
|
NM_000038.6(APC):c.3933dup (p.Gly1312fs)
|
|
|
NM_000038.6(APC):c.3935del (p.Gly1312fs)
|
rs1580641874
|
|
NM_000038.6(APC):c.3942del (p.Arg1314fs)
|
|
|
NM_000038.6(APC):c.3946del (p.Ala1316fs)
|
|
|
NM_000038.6(APC):c.394G>T (p.Gly132Ter)
|
|
|
NM_000038.6(APC):c.3956del (p.Pro1319fs)
|
rs1057517558
|
|
NM_000038.6(APC):c.3957del (p.Pro1319_Val1320insTer)
|
|
|
NM_000038.6(APC):c.395del (p.Gly132fs)
|
|
|
NM_000038.6(APC):c.3971del (p.Pro1324fs)
|
|
|
NM_000038.6(APC):c.3980C>A (p.Ser1327Ter)
|
|
|
NM_000038.6(APC):c.3980C>G (p.Ser1327Ter)
|
rs1554085429
|
|
NM_000038.6(APC):c.3981dup (p.Gln1328fs)
|
|
|
NM_000038.6(APC):c.3982C>T (p.Gln1328Ter)
|
rs398123121
|
|
NM_000038.6(APC):c.3989del (p.Pro1330fs)
|
|
|
NM_000038.6(APC):c.398_399del (p.Tyr133fs)
|
|
|
NM_000038.6(APC):c.3994dup (p.Thr1332fs)
|
rs1114167544
|
|
NM_000038.6(APC):c.3999del (p.Lys1333fs)
|
|
|
NM_000038.6(APC):c.399T>G (p.Tyr133Ter)
|
|
|
NM_000038.6(APC):c.4006A>T (p.Arg1336Ter)
|
rs1580642648
|
|
NM_000038.6(APC):c.4012C>T (p.Gln1338Ter)
|
rs121913327
|
|
NM_000038.6(APC):c.4021del (p.Ser1341fs)
|
|
|
NM_000038.6(APC):c.4025dup (p.Leu1342fs)
|
rs863225351
|
|
NM_000038.6(APC):c.4031C>G (p.Ser1344Ter)
|
rs1114167578
|
|
NM_000038.6(APC):c.4033G>T (p.Glu1345Ter)
|
rs1211642532
|
|
NM_000038.6(APC):c.4035dup (p.Ser1346fs)
|
|
|
NM_000038.6(APC):c.4046del (p.His1349fs)
|
|
|
NM_000038.6(APC):c.4057G>T (p.Glu1353Ter)
|
rs1114167568
|
|
NM_000038.6(APC):c.4057dup (p.Glu1353fs)
|
|
|
NM_000038.6(APC):c.4063del (p.Ser1355fs)
|
|
|
NM_000038.6(APC):c.4067C>A (p.Ser1356Ter)
|
|
|
NM_000038.6(APC):c.4067C>G (p.Ser1356Ter)
|
rs1554085480
|
|
NM_000038.6(APC):c.4075A>T (p.Lys1359Ter)
|
rs863225352
|
|
NM_000038.6(APC):c.4090del (p.Ser1364fs)
|
|
|
NM_000038.6(APC):c.4090dup (p.Ser1364fs)
|
|
|
NM_000038.6(APC):c.4091del (p.Ser1364fs)
|
|
|
NM_000038.6(APC):c.4092_4347del (p.Gly1365fs)
|
|
|
NM_000038.6(APC):c.4099C>T (p.Gln1367Ter)
|
rs121913328
|
|
NM_000038.6(APC):c.4099del (p.Gln1367fs)
|
|
|
NM_000038.6(APC):c.4100dup (p.Thr1368fs)
|
|
|
NM_000038.6(APC):c.4111del (p.Ser1371fs)
|
|
|
NM_000038.6(APC):c.4118_4119del (p.Pro1373fs)
|
|
|
NM_000038.6(APC):c.4119del (p.Glu1374fs)
|
|
|
NM_000038.6(APC):c.4120G>T (p.Glu1374Ter)
|
|
|
NM_000038.6(APC):c.4127_4128del (p.Tyr1376fs)
|
rs1554085533
|
|
NM_000038.6(APC):c.4128T>G (p.Tyr1376Ter)
|
|
|
NM_000038.6(APC):c.4132C>T (p.Gln1378Ter)
|
rs121913329
|
|
NM_000038.6(APC):c.4132del (p.Gln1378fs)
|
|
|
NM_000038.6(APC):c.4132dup (p.Gln1378fs)
|
|
|
NM_000038.6(APC):c.4135G>T (p.Glu1379Ter)
|
rs121913326
|
|
NM_000038.6(APC):c.4141_4142insGGTC (p.Pro1381fs)
|
rs1554085560
|
|
NM_000038.6(APC):c.4147dup (p.Met1383fs)
|
|
|
NM_000038.6(APC):c.4152dup (p.Ser1385Ter)
|
|
|
NM_000038.6(APC):c.4160_4161del (p.Cys1387fs)
|
|
|
NM_000038.6(APC):c.4165dup (p.Ser1389fs)
|
|
|
NM_000038.6(APC):c.4166_4167del (p.Ser1389fs)
|
|
|
NM_000038.6(APC):c.4166_4167dup (p.Val1390fs)
|
|
|
NM_000038.6(APC):c.4168_4178del (p.Ser1389_Val1390insTer)
|
|
|
NM_000038.6(APC):c.4169del (p.Val1390fs)
|
|
|
NM_000038.6(APC):c.416_419del (p.Lys139fs)
|
|
|
NM_000038.6(APC):c.4174del (p.Ser1392fs)
|
rs1765620003
|
|
NM_000038.6(APC):c.4182_4183del (p.Asp1394fs)
|
|
|
NM_000038.6(APC):c.4183_4187del (p.Asp1394_Ser1395insTer)
|
|
|
NM_000038.6(APC):c.4188del (p.Phe1396fs)
|
|
|
NM_000038.6(APC):c.4192_4193del (p.Arg1399fs)
|
rs2149908617
|
|
NM_000038.6(APC):c.4199C>A (p.Ser1400Ter)
|
|
|
NM_000038.6(APC):c.4216C>T (p.Gln1406Ter)
|
rs587782518
|
|
NM_000038.6(APC):c.421_422del (p.Arg141fs)
|
rs1554069850
|
|
NM_000038.6(APC):c.4222G>T (p.Glu1408Ter)
|
|
|
NM_000038.6(APC):c.423-1G>A
|
rs397514031
|
|
NM_000038.6(APC):c.423-1G>C
|
rs397514031
|
|
NM_000038.6(APC):c.423-2A>C
|
rs879254087
|
|
NM_000038.6(APC):c.423-2A>G
|
rs879254087
|
|
NM_000038.6(APC):c.423-2A>T
|
rs879254087
|
|
NM_000038.6(APC):c.4230C>A (p.Cys1410Ter)
|
|
|
NM_000038.6(APC):c.423G>T (p.Arg141Ser)
|
rs863224458
|
|
NM_000038.6(APC):c.4240del (p.Met1413_Val1414insTer)
|
rs1580645606
|
|
NM_000038.6(APC):c.4241dup (p.Ser1415fs)
|
rs1554085654
|
|
NM_000038.6(APC):c.4251dup (p.Ile1418fs)
|
|
|
NM_000038.6(APC):c.425C>A (p.Ser142Ter)
|
|
|
NM_000038.6(APC):c.4260del (p.Ser1421fs)
|
rs1554085679
|
|
NM_000038.6(APC):c.426_427del (p.Leu143fs)
|
rs587782557
|
|
NM_000038.6(APC):c.4274_4277dup (p.Ser1426delinsArgTer)
|
|
|
NM_000038.6(APC):c.4285C>T (p.Gln1429Ter)
|
rs74535574
|
|
NM_000038.6(APC):c.4295dup (p.Pro1433fs)
|
|
|
NM_000038.6(APC):c.4312del (p.Thr1438fs)
|
|
|
NM_000038.6(APC):c.4317_4318del (p.Pro1440fs)
|
|
|
NM_000038.6(APC):c.4319dup (p.Pro1441fs)
|
|
|
NM_000038.6(APC):c.4326del (p.Pro1443fs)
|
rs1580646613
|
|
NM_000038.6(APC):c.4333del (p.Thr1445fs)
|
|
|
NM_000038.6(APC):c.4333dup (p.Thr1445fs)
|
rs2149911981
|
|
NM_000038.6(APC):c.4343_4353del (p.Thr1448fs)
|
|
|
NM_000038.6(APC):c.4348C>T (p.Arg1450Ter)
|
rs121913332
|
|
NM_000038.6(APC):c.4354del (p.Val1452fs)
|
|
|
NM_000038.6(APC):c.4373_4380del (p.Pro1458fs)
|
|
|
NM_000038.6(APC):c.4374_4383dup (p.Lys1462delinsTyrCysTer)
|
|
|
NM_000038.6(APC):c.4383_4387del (p.Lys1462fs)
|
rs2149913330
|
|
NM_000038.6(APC):c.4384_4385del (p.Lys1462fs)
|
rs1554085846
|
|
NM_000038.6(APC):c.4386_4387delinsTT (p.Lys1462_Arg1463delinsAsnTer)
|
|
|
NM_000038.6(APC):c.4389dup (p.Glu1464fs)
|
rs1554085850
|
|
NM_000038.6(APC):c.4391_4394del (p.Glu1464fs)
|
rs387906234
|
|
NM_000038.6(APC):c.4391del (p.Glu1464fs)
|
|
|
NM_000038.6(APC):c.4393_4394del (p.Ser1465fs)
|
rs387906234
|
|
NM_000038.6(APC):c.4393_4394dup (p.Ser1465fs)
|
|
|
NM_000038.6(APC):c.4397del (p.Gly1466fs)
|
rs1580647642
|
|
NM_000038.6(APC):c.439dup (p.Asp147fs)
|
|
|
NM_000038.6(APC):c.4404_4418delinsC (p.Lys1468fs)
|
rs1064792980
|
|
NM_000038.6(APC):c.4405C>T (p.Gln1469Ter)
|
rs1060503288
|
|
NM_000038.6(APC):c.4408_4457del (p.Ala1470fs)
|
|
|
NM_000038.6(APC):c.4408delinsAC (p.Ala1470fs)
|
|
|
NM_000038.6(APC):c.440dup (p.Asp147fs)
|
rs2149614665
|
|
NM_000038.6(APC):c.4418del (p.Asn1473fs)
|
|
|
NM_000038.6(APC):c.4429C>T (p.Gln1477Ter)
|
|
|
NM_000038.6(APC):c.4438C>T (p.Gln1480Ter)
|
rs2149914756
|
|
NM_000038.6(APC):c.4441del (p.Val1481fs)
|
|
|
NM_000038.6(APC):c.4462_4463insGTAAT (p.Leu1488fs)
|
|
|
NM_000038.6(APC):c.4463T>G (p.Leu1488Ter)
|
rs786202324
|
|
NM_000038.6(APC):c.4463dup (p.Leu1488fs)
|
rs1114167577
|
|
NM_000038.6(APC):c.4466T>G (p.Leu1489Ter)
|
rs1765687695
|
|
NM_000038.6(APC):c.4473dup (p.Ala1492fs)
|
rs398123122
|
|
NM_000038.6(APC):c.4474del (p.Ala1492fs)
|
rs1131691144
|
|
NM_000038.6(APC):c.4476del (p.Thr1493fs)
|
|
|
NM_000038.6(APC):c.4495G>T (p.Gly1499Ter)
|
rs756912930
|
|
NM_000038.6(APC):c.449_450del (p.Lys150fs)
|
|
|
NM_000038.6(APC):c.4501del (p.Ser1501fs)
|
rs1580648975
|
|
NM_000038.6(APC):c.4502del (p.Ser1501fs)
|
|
|
NM_000038.6(APC):c.4507_4510del (p.Ser1503fs)
|
|
|
NM_000038.6(APC):c.4508C>A (p.Ser1503Ter)
|
|
|
NM_000038.6(APC):c.450_453del (p.Glu151fs)
|
rs863225355
|
|
NM_000038.6(APC):c.4510_4513del (p.Ser1504fs)
|
rs2149916412
|
|
NM_000038.6(APC):c.4525_4526del (p.Leu1509fs)
|
rs2149916736
|
|
NM_000038.6(APC):c.4528del (p.Ser1510fs)
|
|
|
NM_000038.6(APC):c.453del (p.Glu152fs)
|
rs863224820
|
|
NM_000038.6(APC):c.4549C>T (p.Gln1517Ter)
|
rs1114167596
|
|
NM_000038.6(APC):c.4552A>T (p.Lys1518Ter)
|
|
|
NM_000038.6(APC):c.4555del (p.Asp1519fs)
|
|
|
NM_000038.6(APC):c.4558dup (p.Val1520fs)
|
|
|
NM_000038.6(APC):c.4568_4572del (p.Arg1523fs)
|
|
|
NM_000038.6(APC):c.457A>T (p.Lys153Ter)
|
rs1561477861
|
|
NM_000038.6(APC):c.4583_4587del (p.Val1528fs)
|
rs1580649885
|
|
NM_000038.6(APC):c.4585C>T (p.Gln1529Ter)
|
rs1554085992
|
|
NM_000038.6(APC):c.4588G>T (p.Glu1530Ter)
|
|
|
NM_000038.6(APC):c.458del (p.Lys153fs)
|
rs1554071521
|
|
NM_000038.6(APC):c.4592del (p.Asn1531fs)
|
|
|
NM_000038.6(APC):c.4594del (p.Asp1532fs)
|
|
|
NM_000038.6(APC):c.4598del (p.Asn1533fs)
|
|
|
NM_000038.6(APC):c.4604dup (p.Asn1535fs)
|
rs1580650175
|
|
NM_000038.6(APC):c.4606G>T (p.Glu1536Ter)
|
rs1554086001
|
|
NM_000038.6(APC):c.4612_4613del (p.Glu1538fs)
|
rs387906236
|
|
NM_000038.6(APC):c.4621C>T (p.Gln1541Ter)
|
rs786201801
|
|
NM_000038.6(APC):c.4633_4636del (p.Ser1545fs)
|
|
|
NM_000038.6(APC):c.4634C>A (p.Ser1545Ter)
|
rs863225356
|
|
NM_000038.6(APC):c.4634C>G (p.Ser1545Ter)
|
rs863225356
|
|
NM_000038.6(APC):c.4638_4642del (p.Asn1546fs)
|
rs1554086030
|
|
NM_000038.6(APC):c.4643_4645delinsT (p.Asn1548fs)
|
rs1114167601
|
|
NM_000038.6(APC):c.4644_4653del (p.Asn1548fs)
|
|
|
NM_000038.6(APC):c.4645C>T (p.Gln1549Ter)
|
rs863225357
|
|
NM_000038.6(APC):c.4651A>T (p.Lys1551Ter)
|
|
|
NM_000038.6(APC):c.4652_4653del (p.Lys1551fs)
|
|
|
NM_000038.6(APC):c.4652_4655del (p.Lys1551fs)
|
rs863225358
|
|
NM_000038.6(APC):c.4654G>T (p.Glu1552Ter)
|
|
|
NM_000038.6(APC):c.4654delinsAA (p.Glu1552fs)
|
|
|
NM_000038.6(APC):c.4655_4656del (p.Glu1552fs)
|
rs1765732008
|
|
NM_000038.6(APC):c.465dup (p.Asp156fs)
|
|
|
NM_000038.6(APC):c.4660G>T (p.Glu1554Ter)
|
rs1392778905
|
|
NM_000038.6(APC):c.4662_4671del (p.Lys1555fs)
|
|
|
NM_000038.6(APC):c.4666del (p.Thr1556fs)
|
rs587783031
|
|
NM_000038.6(APC):c.4666dup (p.Thr1556fs)
|
rs587783031
|
|
NM_000038.6(APC):c.4669_4670del (p.Thr1556_Ile1557insTer)
|
rs786201118
|
|
NM_000038.6(APC):c.4670_4671del (p.Ile1557fs)
|
rs1561594547
|
|
NM_000038.6(APC):c.4671del (p.Ile1557fs)
|
rs1554086084
|
|
NM_000038.6(APC):c.4682del (p.Lys1561fs)
|
rs1114167552
|
|
NM_000038.6(APC):c.4687del (p.Leu1563fs)
|
|
|
NM_000038.6(APC):c.4689_4692del (p.Leu1564fs)
|
|
|
NM_000038.6(APC):c.4689_4695del (p.Leu1564fs)
|
|
|
NM_000038.6(APC):c.4691T>A (p.Leu1564Ter)
|
|
|
NM_000038.6(APC):c.4691T>G (p.Leu1564Ter)
|
rs2149921292
|
|
NM_000038.6(APC):c.469_470del (p.Trp157fs)
|
|
|
NM_000038.6(APC):c.4706_4707del (p.Asp1569fs)
|
rs876660454
|
|
NM_000038.6(APC):c.4709del (p.Asp1570fs)
|
|
|
NM_000038.6(APC):c.470G>A (p.Trp157Ter)
|
rs137854576
|
|
NM_000038.6(APC):c.471G>A (p.Trp157Ter)
|
rs1060503328
|
|
NM_000038.6(APC):c.4721_4722insC (p.Leu1575fs)
|
|
|
NM_000038.6(APC):c.4729G>T (p.Glu1577Ter)
|
|
|
NM_000038.6(APC):c.4733_4734del (p.Cys1578fs)
|
rs863225359
|
|
NM_000038.6(APC):c.4734dup (p.Ile1579fs)
|
|
|
NM_000038.6(APC):c.4735_4736del (p.Ile1579fs)
|
rs1554086138
|
|
NM_000038.6(APC):c.4742del (p.Ser1581fs)
|
|
|
NM_000038.6(APC):c.4756_4757del (p.Lys1586fs)
|
|
|
NM_000038.6(APC):c.475dup (p.Tyr159fs)
|
rs863225361
|
|
NM_000038.6(APC):c.4760C>A (p.Ser1587Ter)
|
rs1765760073
|
|
NM_000038.6(APC):c.476_477del (p.Tyr159fs)
|
|
|
NM_000038.6(APC):c.476_488del (p.Tyr158_Tyr159insTer)
|
rs2149615315
|
|
NM_000038.6(APC):c.476del (p.Tyr159fs)
|
|
|
NM_000038.6(APC):c.476dup (p.Tyr159Ter)
|
rs878853451
|
|
NM_000038.6(APC):c.4775_4778del (p.Lys1592fs)
|
|
|
NM_000038.6(APC):c.4778_4779delinsT (p.Lys1593fs)
|
|
|
NM_000038.6(APC):c.4778_4780delinsGG (p.Lys1593fs)
|
|
|
NM_000038.6(APC):c.4778del (p.Lys1593fs)
|
rs1554086185
|
|
NM_000038.6(APC):c.4778dup (p.Pro1594fs)
|
|
|
NM_000038.6(APC):c.477C>A (p.Tyr159Ter)
|
rs863224281
|
|
NM_000038.6(APC):c.477C>G (p.Tyr159Ter)
|
rs863224281
|
|
NM_000038.6(APC):c.477_487delinsT (p.Ala160fs)
|
|
|
NM_000038.6(APC):c.477del (p.Tyr158_Tyr159insTer)
|
rs730880250
|
|
NM_000038.6(APC):c.4782_4785del (p.Ala1595fs)
|
rs1554086196
|
|
NM_000038.6(APC):c.4793_4800delinsTGG (p.Ala1598fs)
|
rs886039641
|
|
NM_000038.6(APC):c.4805del (p.Pro1602fs)
|
|
|
NM_000038.6(APC):c.481C>T (p.Gln161Ter)
|
rs876658325
|
|
NM_000038.6(APC):c.4830_4836del (p.Gln1611fs)
|
|
|
NM_000038.6(APC):c.4831C>T (p.Gln1611Ter)
|
rs774847203
|
|
NM_000038.6(APC):c.4839del (p.Val1614fs)
|
rs2149925213
|
|
NM_000038.6(APC):c.4845C>G (p.Tyr1615Ter)
|
|
|
NM_000038.6(APC):c.4860del (p.Gln1621fs)
|
|
|
NM_000038.6(APC):c.4873del (p.Gln1625fs)
|
rs1554086262
|
|
NM_000038.6(APC):c.4875del (p.Gln1625fs)
|
rs587779794
|
|
NM_000038.6(APC):c.4879C>T (p.Gln1627Ter)
|
|
|
NM_000038.6(APC):c.487C>T (p.Gln163Ter)
|
rs863225362
|
|
NM_000038.6(APC):c.4885_4895dup (p.Thr1633fs)
|
|
|
NM_000038.6(APC):c.4891_4894del (p.Ser1631fs)
|
rs1580653770
|
|
NM_000038.6(APC):c.4906del (p.Asp1636fs)
|
rs1554086285
|
|
NM_000038.6(APC):c.4907dup (p.Asp1636fs)
|
|
|
NM_000038.6(APC):c.4908_4920del (p.Asp1636fs)
|
|
|
NM_000038.6(APC):c.4913dup (p.Met1638fs)
|
|
|
NM_000038.6(APC):c.4928del (p.Cys1643fs)
|
|
|
NM_000038.6(APC):c.4933G>T (p.Glu1645Ter)
|
|
|
NM_000038.6(APC):c.4943_4944del (p.Pro1648fs)
|
|
|
NM_000038.6(APC):c.494_495del (p.Leu165fs)
|
|
|
NM_000038.6(APC):c.4970dup (p.Ser1658fs)
|
rs1554086340
|
|
NM_000038.6(APC):c.4979_4982dup (p.Ile1662fs)
|
|
|
NM_000038.6(APC):c.4984dup (p.Ile1662fs)
|
|
|
NM_000038.6(APC):c.4987G>T (p.Glu1663Ter)
|
rs758987855
|
|
NM_000038.6(APC):c.498_502del (p.Lys167fs)
|
|
|
NM_000038.6(APC):c.5005_5008del (p.Ala1670fs)
|
rs1554086363
|
|
NM_000038.6(APC):c.5028del (p.Gly1677fs)
|
|
|
NM_000038.6(APC):c.5029G>T (p.Gly1677Ter)
|
rs2149930219
|
|
NM_000038.6(APC):c.502del (p.Arg168fs)
|
rs1554071602
|
|
NM_000038.6(APC):c.503del (p.Arg168fs)
|
rs2149615791
|
|
NM_000038.6(APC):c.5047_5051del (p.Gly1682_Glu1683insTer)
|
|
|
NM_000038.6(APC):c.5058dup (p.Arg1687fs)
|
|
|
NM_000038.6(APC):c.5083A>T (p.Arg1695Ter)
|
|
|
NM_000038.6(APC):c.509_512del (p.Asp170fs)
|
rs387906231
|
|
NM_000038.6(APC):c.511dup (p.Ser171fs)
|
|
|
NM_000038.6(APC):c.513delinsGA (p.Ser171fs)
|
|
|
NM_000038.6(APC):c.5145del (p.Asp1715fs)
|
rs863225363
|
|
NM_000038.6(APC):c.5148_5151del (p.Asn1716fs)
|
rs2149933157
|
|
NM_000038.6(APC):c.5154dup (p.Glu1719fs)
|
rs2149933386
|
|
NM_000038.6(APC):c.5155G>T (p.Glu1719Ter)
|
|
|
NM_000038.6(APC):c.516del (p.Pro173fs)
|
rs1580359575
|
|
NM_000038.6(APC):c.516dup (p.Pro173fs)
|
rs1580359575
|
|
NM_000038.6(APC):c.517_520del (p.Leu172_Pro173insTer)
|
|
|
NM_000038.6(APC):c.5185_5188del (p.Asn1729fs)
|
rs1765870542
|
|
NM_000038.6(APC):c.518del (p.Pro173fs)
|
|
|
NM_000038.6(APC):c.5202del (p.Ser1737fs)
|
|
|
NM_000038.6(APC):c.5234dup (p.Ile1746fs)
|
rs1554086550
|
|
NM_000038.6(APC):c.5252del (p.Gln1751fs)
|
|
|
NM_000038.6(APC):c.5253_5258delinsTT (p.Gln1751fs)
|
|
|
NM_000038.6(APC):c.525del (p.Glu176fs)
|
|
|
NM_000038.6(APC):c.530del (p.Asn177fs)
|
rs1757573424
|
|
NM_000038.6(APC):c.531+1G>A
|
rs876659973
|
|
NM_000038.6(APC):c.531+1G>C
|
rs876659973
|
|
NM_000038.6(APC):c.531+2T>A
|
rs863225365
|
|
NM_000038.6(APC):c.531+2T>C
|
rs863225365
|
|
NM_000038.6(APC):c.531+2dup
|
rs1060503257
|
|
NM_000038.6(APC):c.531+3A>C
|
rs1114167550
|
|
NM_000038.6(APC):c.531+5G>A
|
rs587779798
|
|
NM_000038.6(APC):c.531+5G>C
|
rs587779798
|
|
NM_000038.6(APC):c.5310_5374del (p.Lys1771fs)
|
|
|
NM_000038.6(APC):c.5331del (p.Lys1777fs)
|
|
|
NM_000038.6(APC):c.5341C>T (p.Gln1781Ter)
|
rs1554086653
|
|
NM_000038.6(APC):c.5348del (p.Thr1783fs)
|
|
|
NM_000038.6(APC):c.5375dup (p.Asn1792fs)
|
|
|
NM_000038.6(APC):c.537del (p.Leu180fs)
|
rs35790168
|
|
NM_000038.6(APC):c.5390dup (p.Asn1797fs)
|
|
|
NM_000038.6(APC):c.5409_5410del (p.Arg1803fs)
|
rs2149939309
|
|
NM_000038.6(APC):c.541C>T (p.Gln181Ter)
|
rs863225366
|
|
NM_000038.6(APC):c.5428_5452del (p.Asp1810fs)
|
|
|
NM_000038.6(APC):c.5432C>G (p.Ser1811Ter)
|
rs1060503325
|
|
NM_000038.6(APC):c.544del (p.Thr182fs)
|
|
|
NM_000038.6(APC):c.5490_5493del (p.Asn1830fs)
|
rs730881273
|
|
NM_000038.6(APC):c.5497dup (p.Arg1833fs)
|
|
|
NM_000038.6(APC):c.549_550insCT (p.Met184fs)
|
|
|
NM_000038.6(APC):c.5504del (p.Arg1835fs)
|
|
|
NM_000038.6(APC):c.5507del (p.Gly1836fs)
|
rs1561600715
|
|
NM_000038.6(APC):c.5520del (p.Phe1840fs)
|
rs1114167555
|
|
NM_000038.6(APC):c.5550_5579delinsG (p.Gly1851fs)
|
|
|
NM_000038.6(APC):c.5556del (p.Pro1853fs)
|
|
|
NM_000038.6(APC):c.556del (p.Arg186fs)
|
|
|
NM_000038.6(APC):c.5570C>G (p.Ser1857Ter)
|
|
|
NM_000038.6(APC):c.5572C>T (p.Arg1858Ter)
|
rs1270783041
|
|
NM_000038.6(APC):c.5582_5585del (p.Asp1860_Ser1861insTer)
|
rs587776520
|
|
NM_000038.6(APC):c.5585dup (p.Leu1862fs)
|
rs1554086823
|
|
NM_000038.6(APC):c.559del (p.Arg187fs)
|
rs1758242304
|
|
NM_000038.6(APC):c.562C>T (p.Gln188Ter)
|
rs869312753
|
|
NM_000038.6(APC):c.5632_5633dup (p.Ala1879fs)
|
|
|
NM_000038.6(APC):c.5644_5648del (p.Arg1882fs)
|
|
|
NM_000038.6(APC):c.5646_5649del (p.Lys1883fs)
|
|
|
NM_000038.6(APC):c.5659_5663del (p.Asn1887fs)
|
rs1554086854
|
|
NM_000038.6(APC):c.5669C>G (p.Ser1890Ter)
|
rs1554086862
|
|
NM_000038.6(APC):c.566del (p.Leu189fs)
|
|
|
NM_000038.6(APC):c.5691del (p.His1897fs)
|
rs1580662647
|
|
NM_000038.6(APC):c.573_577dup (p.Ala193fs)
|
|
|
NM_000038.6(APC):c.573_580del (p.Tyr191_Arg194delinsTer)
|
|
|
NM_000038.6(APC):c.5757del (p.Arg1920fs)
|
rs786201134
|
|
NM_000038.6(APC):c.5768del (p.Pro1923fs)
|
|
|
NM_000038.6(APC):c.5775dup (p.Ile1926fs)
|
|
|
NM_000038.6(APC):c.5776del (p.Ile1926fs)
|
|
|
NM_000038.6(APC):c.5781del (p.Gln1928fs)
|
rs1766043404
|
|
NM_000038.6(APC):c.5781dup (p.Gln1928fs)
|
|
|
NM_000038.6(APC):c.5782del (p.Gln1928fs)
|
rs2149949090
|
|
NM_000038.6(APC):c.5803_5804del (p.Gln1935fs)
|
|
|
NM_000038.6(APC):c.5803del (p.Gln1935fs)
|
rs1131691253
|
|
NM_000038.6(APC):c.5804dup (p.Ser1936fs)
|
rs863225367
|
|
NM_000038.6(APC):c.5820dup (p.Pro1941fs)
|
rs1561602876
|
|
NM_000038.6(APC):c.5826_5829del (p.Asp1942fs)
|
rs864622228
|
|
NM_000038.6(APC):c.5829_5830del (p.Ala1945fs)
|
|
|
NM_000038.6(APC):c.5834del (p.Ala1945fs)
|
rs1766061264
|
|
NM_000038.6(APC):c.5835del (p.Ala1946fs)
|
|
|
NM_000038.6(APC):c.583C>T (p.Gln195Ter)
|
rs749479682
|
|
NM_000038.6(APC):c.5850del (p.Lys1950fs)
|
|
|
NM_000038.6(APC):c.5852del (p.Leu1951fs)
|
|
|
NM_000038.6(APC):c.5854C>T (p.Gln1952Ter)
|
|
|
NM_000038.6(APC):c.5854del (p.Gln1952fs)
|
|
|
NM_000038.6(APC):c.5862del (p.Phe1954fs)
|
|
|
NM_000038.6(APC):c.5864del (p.Ala1955fs)
|
|
|
NM_000038.6(APC):c.586dup (p.Ile196fs)
|
|
|
NM_000038.6(APC):c.5901_5916del (p.Ser1968fs)
|
|
|
NM_000038.6(APC):c.5906del (p.Leu1969fs)
|
|
|
NM_000038.6(APC):c.5917del (p.Ser1973fs)
|
rs878853458
|
|
NM_000038.6(APC):c.5936_5939del (p.Asn1979fs)
|
rs587781330
|
|
NM_000038.6(APC):c.5936del (p.Asn1979fs)
|
rs863225368
|
|
NM_000038.6(APC):c.5943_5946del (p.Asn1981fs)
|
|
|
NM_000038.6(APC):c.5944A>T (p.Lys1982Ter)
|
rs876660665
|
|
NM_000038.6(APC):c.5954_5966del (p.Glu1985fs)
|
rs2149953340
|
|
NM_000038.6(APC):c.5964del (p.Glu1989fs)
|
|
|
NM_000038.6(APC):c.5978del (p.Pro1993fs)
|
rs1554087123
|
|
NM_000038.6(APC):c.5989_5992del (p.Gly1997fs)
|
|
|
NM_000038.6(APC):c.5990del (p.Gly1997fs)
|
|
|
NM_000038.6(APC):c.5996del (p.Pro1999fs)
|
rs863225369
|
|
NM_000038.6(APC):c.6010dup (p.Ala2004fs)
|
rs879254226
|
|
NM_000038.6(APC):c.6011_6012insTT (p.Ser2005fs)
|
rs1561604514
|
|
NM_000038.6(APC):c.601del (p.Glu201fs)
|
|
|
NM_000038.6(APC):c.6053del (p.Pro2018fs)
|
rs1131691142
|
|
NM_000038.6(APC):c.6065C>G (p.Ser2022Ter)
|
rs1554087174
|
|
NM_000038.6(APC):c.6076del (p.Ser2026fs)
|
|
|
NM_000038.6(APC):c.607C>T (p.Gln203Ter)
|
rs141576417
|
|
NM_000038.6(APC):c.6093_6095delinsAC (p.Ser2031fs)
|
rs879254155
|
|
NM_000038.6(APC):c.6094_6103delinsTCTCTT (p.Ile2032fs)
|
|
|
NM_000038.6(APC):c.6121G>T (p.Glu2041Ter)
|
|
|
NM_000038.6(APC):c.6126_6141del (p.Ile2043fs)
|
rs786203024
|
|
NM_000038.6(APC):c.6149dup (p.Lys2051fs)
|
|
|
NM_000038.6(APC):c.6169A>T (p.Lys2057Ter)
|
|
|
NM_000038.6(APC):c.6189_6190del (p.His2063fs)
|
rs2149959261
|
|
NM_000038.6(APC):c.618del (p.Cys207fs)
|
|
|
NM_000038.6(APC):c.620dup (p.Cys207fs)
|
|
|
NM_000038.6(APC):c.6215T>G (p.Leu2072Ter)
|
|
|
NM_000038.6(APC):c.621C>A (p.Cys207Ter)
|
|
|
NM_000038.6(APC):c.6227dup (p.Thr2077fs)
|
|
|
NM_000038.6(APC):c.622C>T (p.Gln208Ter)
|
rs137854583
|
|
NM_000038.6(APC):c.6281_6282del (p.Pro2094fs)
|
rs1554087314
|
|
NM_000038.6(APC):c.6281del (p.Pro2094fs)
|
rs876660816
|
|
NM_000038.6(APC):c.6282del (p.Asp2095fs)
|
rs2149961425
|
|
NM_000038.6(APC):c.6287C>A (p.Ser2096Ter)
|
|
|
NM_000038.6(APC):c.62C>A (p.Ser21Ter)
|
|
|
NM_000038.6(APC):c.6303G>A (p.Trp2101Ter)
|
|
|
NM_000038.6(APC):c.6312_6321del (p.Ile2104fs)
|
rs2149962117
|
|
NM_000038.6(APC):c.6344T>A (p.Leu2115Ter)
|
rs876659022
|
|
NM_000038.6(APC):c.635_636dup (p.Arg213fs)
|
rs1561485947
|
|
NM_000038.6(APC):c.6360_6377delinsAA (p.Ala2121fs)
|
|
|
NM_000038.6(APC):c.6365dup (p.Cys2123fs)
|
|
|
NM_000038.6(APC):c.636dup (p.Arg213fs)
|
rs1561485947
|
|
NM_000038.6(APC):c.6371T>A (p.Leu2124Ter)
|
rs1057517568
|
|
NM_000038.6(APC):c.637C>T (p.Arg213Ter)
|
rs587781392
|
|
NM_000038.6(APC):c.6383del (p.Ala2128fs)
|
rs587779803
|
|
NM_000038.6(APC):c.6386C>A (p.Ser2129Ter)
|
|
|
NM_000038.6(APC):c.6390_6391del (p.Asp2131fs)
|
rs1554087390
|
|
NM_000038.6(APC):c.6412del (p.Ser2137_Leu2138insTer)
|
|
|
NM_000038.6(APC):c.6419C>G (p.Ser2140Ter)
|
|
|
NM_000038.6(APC):c.641dup (p.Gln215fs)
|
|
|
NM_000038.6(APC):c.6428_6431del (p.Ser2143fs)
|
|
|
NM_000038.6(APC):c.642del (p.Gln215fs)
|
|
|
NM_000038.6(APC):c.6437C>A (p.Ser2146Ter)
|
|
|
NM_000038.6(APC):c.643C>T (p.Gln215Ter)
|
rs137854577
|
|
NM_000038.6(APC):c.643_644del (p.Gln215fs)
|
|
|
NM_000038.6(APC):c.6451dup (p.Thr2151fs)
|
|
|
NM_000038.6(APC):c.6474del (p.Phe2159fs)
|
|
|
NM_000038.6(APC):c.647del (p.Arg216fs)
|
|
|
NM_000038.6(APC):c.6485_6489del (p.Asn2162fs)
|
rs2149965938
|
|
NM_000038.6(APC):c.6494del (p.Pro2165fs)
|
|
|
NM_000038.6(APC):c.6496C>T (p.Arg2166Ter)
|
rs764527706
|
|
NM_000038.6(APC):c.6510del (p.Glu2172fs)
|
rs1554087474
|
|
NM_000038.6(APC):c.6514G>T (p.Glu2172Ter)
|
rs864622314
|
|
NM_000038.6(APC):c.654del (p.Ile218fs)
|
|
|
NM_000038.6(APC):c.6555_6559del (p.Ser2185fs)
|
rs1580671859
|
|
NM_000038.6(APC):c.6574A>T (p.Lys2192Ter)
|
|
|
NM_000038.6(APC):c.6578_6579del (p.Lys2193fs)
|
|
|
NM_000038.6(APC):c.6579del (p.Val2194fs)
|
rs775076289
|
|
NM_000038.6(APC):c.6579dup (p.Val2194fs)
|
|
|
NM_000038.6(APC):c.6586A>T (p.Lys2196Ter)
|
|
|
NM_000038.6(APC):c.6610C>T (p.Arg2204Ter)
|
rs752654519
|
|
NM_000038.6(APC):c.6620C>A (p.Ser2207Ter)
|
|
|
NM_000038.6(APC):c.6634dup (p.Gln2212fs)
|
|
|
NM_000038.6(APC):c.6676C>T (p.Arg2226Ter)
|
rs1064794626
|
|
NM_000038.6(APC):c.667C>T (p.Gln223Ter)
|
rs1554074738
|
|
NM_000038.6(APC):c.6709C>T (p.Arg2237Ter)
|
rs768922431
|
|
NM_000038.6(APC):c.6742A>T (p.Lys2248Ter)
|
rs1580674179
|
|
NM_000038.6(APC):c.6747del (p.Gly2250fs)
|
|
|
NM_000038.6(APC):c.6747dup (p.Gly2250fs)
|
rs773874693
|
|
NM_000038.6(APC):c.674_689del (p.Glu225fs)
|
|
|
NM_000038.6(APC):c.6760A>T (p.Lys2254Ter)
|
rs2149972499
|
|
NM_000038.6(APC):c.6778del (p.Ser2260fs)
|
|
|
NM_000038.6(APC):c.6778dup (p.Ser2260fs)
|
|
|
NM_000038.6(APC):c.677del (p.Lys226fs)
|
rs863225371
|
|
NM_000038.6(APC):c.6796dup (p.Thr2266fs)
|
|
|
NM_000038.6(APC):c.684_687del (p.Leu229fs)
|
rs1554074759
|
|
NM_000038.6(APC):c.688del (p.Arg230fs)
|
|
|
NM_000038.6(APC):c.6919dup (p.Ser2307fs)
|
|
|
NM_000038.6(APC):c.6926del (p.Pro2309fs)
|
|
|
NM_000038.6(APC):c.6940C>T (p.Gln2314Ter)
|
|
|
NM_000038.6(APC):c.6944_6945del (p.Gln2315fs)
|
rs2149976879
|
|
NM_000038.6(APC):c.694C>T (p.Arg232Ter)
|
rs397515734
|
|
NM_000038.6(APC):c.6950T>G (p.Leu2317Ter)
|
|
|
NM_000038.6(APC):c.6976C>T (p.Arg2326Ter)
|
rs1060503355
|
|
NM_000038.6(APC):c.697C>T (p.Gln233Ter)
|
rs1554074772
|
|
NM_000038.6(APC):c.6983C>G (p.Ser2328Ter)
|
|
|
NM_000038.6(APC):c.6985dup (p.Ile2329fs)
|
|
|
NM_000038.6(APC):c.7016_7076del (p.Pro2339fs)
|
rs1766353088
|
|
NM_000038.6(APC):c.704del (p.Leu235fs)
|
|
|
NM_000038.6(APC):c.704dup (p.Leu235fs)
|
|
|
NM_000038.6(APC):c.706C>T (p.Gln236Ter)
|
rs1554074786
|
|
NM_000038.6(APC):c.706_710delinsAACA (p.Gln236fs)
|
|
|
NM_000038.6(APC):c.7074del (p.Ser2359fs)
|
|
|
NM_000038.6(APC):c.7114C>T (p.Gln2372Ter)
|
rs1580678722
|
|
NM_000038.6(APC):c.712C>T (p.Gln238Ter)
|
rs1580424314
|
|
NM_000038.6(APC):c.7143_7146del (p.Thr2382fs)
|
rs886039687
|
|
NM_000038.6(APC):c.7144del (p.Thr2382fs)
|
|
|
NM_000038.6(APC):c.7144dup (p.Thr2382fs)
|
|
|
NM_000038.6(APC):c.7185_7187delinsATACTTCCACTTGGAA (p.Ser2396fs)
|
|
|
NM_000038.6(APC):c.7191del (p.Ser2398fs)
|
|
|
NM_000038.6(APC):c.7270_7273del (p.Ser2424fs)
|
rs1469278346
|
|
NM_000038.6(APC):c.7271C>G (p.Ser2424Ter)
|
rs1554088206
|
|
NM_000038.6(APC):c.7300del (p.Arg2434fs)
|
|
|
NM_000038.6(APC):c.7318C>T (p.Gln2440Ter)
|
|
|
NM_000038.6(APC):c.7319delinsGGAGTTTGATAGTTCTTGGGCAGTGAGAGTGAGTAGTAGAATGTTTAGTGAGCCTAGGGTGTTGTGAGCCTAGGGT (p.Gln2440delinsArgSerLeuIleValLeuGlyGlnTer)
|
|
|
NM_000038.6(APC):c.7336G>T (p.Glu2446Ter)
|
|
|
NM_000038.6(APC):c.734C>A (p.Ser245Ter)
|
rs1554076133
|
|
NM_000038.6(APC):c.7355T>G (p.Leu2452Ter)
|
|
|
NM_000038.6(APC):c.7387G>T (p.Glu2463Ter)
|
|
|
NM_000038.6(APC):c.7395_7396dup (p.Ser2466fs)
|
|
|
NM_000038.6(APC):c.7395_7398del (p.Ser2466fs)
|
rs1580682001
|
|
NM_000038.6(APC):c.7428del (p.Arg2476fs)
|
|
|
NM_000038.6(APC):c.7432del (p.Gln2478fs)
|
rs1580682528
|
|
NM_000038.6(APC):c.7467_7468dup (p.Asp2490fs)
|
rs1554088383
|
|
NM_000038.6(APC):c.7472del (p.Met2491fs)
|
|
|
NM_000038.6(APC):c.7477_7478del (p.Leu2493fs)
|
rs1554088391
|
|
NM_000038.6(APC):c.7489dup (p.Ser2497fs)
|
rs1409414498
|
|
NM_000038.6(APC):c.74_75del (p.Gln25fs)
|
rs1554067124
|
|
NM_000038.6(APC):c.74_75insT (p.Gln25fs)
|
|
|
NM_000038.6(APC):c.7511G>A (p.Trp2504Ter)
|
rs755046558
|
|
NM_000038.6(APC):c.7513C>T (p.Arg2505Ter)
|
rs79630786
|
|
NM_000038.6(APC):c.753_754del (p.Glu251fs)
|
|
|
NM_000038.6(APC):c.754del (p.Thr252fs)
|
|
|
NM_000038.6(APC):c.7570A>T (p.Lys2524Ter)
|
|
|
NM_000038.6(APC):c.7582del (p.Ile2528fs)
|
|
|
NM_000038.6(APC):c.758_759delinsT (p.Gly253fs)
|
|
|
NM_000038.6(APC):c.7619del (p.Pro2540fs)
|
|
|
NM_000038.6(APC):c.761C>G (p.Ser254Ter)
|
rs1060503334
|
|
NM_000038.6(APC):c.7636del (p.Thr2546fs)
|
|
|
NM_000038.6(APC):c.7642_7649del (p.Lys2548fs)
|
|
|
NM_000038.6(APC):c.7663_7666del (p.Ser2555fs)
|
|
|
NM_000038.6(APC):c.7678C>T (p.Arg2560Ter)
|
rs1580685528
|
|
NM_000038.6(APC):c.7682dup (p.Ser2562fs)
|
|
|
NM_000038.6(APC):c.7686_7687insT (p.Thr2563fs)
|
|
|
NM_000038.6(APC):c.7692G>A (p.Trp2564Ter)
|
|
|
NM_000038.6(APC):c.7692dup (p.Arg2565fs)
|
rs1554088600
|
|
NM_000038.6(APC):c.7709C>A (p.Ser2570Ter)
|
|
|
NM_000038.6(APC):c.7733C>G (p.Ser2578Ter)
|
|
|
NM_000038.6(APC):c.773_774del (p.Glu258fs)
|
|
|
NM_000038.6(APC):c.7765G>T (p.Glu2589Ter)
|
|
|
NM_000038.6(APC):c.7772_7773del (p.His2591fs)
|
rs2149993527
|
|
NM_000038.6(APC):c.778C>T (p.Gln260Ter)
|
|
|
NM_000038.6(APC):c.7798_7801del (p.Gln2600fs)
|
rs1561618361
|
|
NM_000038.6(APC):c.7844_7847del (p.Ile2615fs)
|
rs1766578455
|
|
NM_000038.6(APC):c.7849_7853del (p.Lys2616_Glu2617insTer)
|
|
|
NM_000038.6(APC):c.7852_7853del (p.Glu2617_Asn2618insTer)
|
|
|
NM_000038.6(APC):c.7853del (p.Asn2618fs)
|
|
|
NM_000038.6(APC):c.7871del (p.Asn2624fs)
|
|
|
NM_000038.6(APC):c.7882C>T (p.Gln2628Ter)
|
|
|
NM_000038.6(APC):c.7904del (p.Thr2635fs)
|
rs2149995957
|
|
NM_000038.6(APC):c.790C>T (p.Gln264Ter)
|
|
|
NM_000038.6(APC):c.7926_7929del (p.Leu2643fs)
|
rs1766601512
|
|
NM_000038.6(APC):c.7927_7928del (p.Leu2643fs)
|
rs1766600757
|
|
NM_000038.6(APC):c.7928dup (p.Ile2644fs)
|
|
|
NM_000038.6(APC):c.7930_7934del (p.Ile2644fs)
|
rs1561619376
|
|
NM_000038.6(APC):c.7932_7933delinsA (p.Tyr2645fs)
|
|
|
NM_000038.6(APC):c.7932_7935del (p.Tyr2645fs)
|
rs1554088762
|
|
NM_000038.6(APC):c.7936C>T (p.Gln2646Ter)
|
|
|
NM_000038.6(APC):c.7955del (p.Ser2652fs)
|
rs2149996933
|
|
NM_000038.6(APC):c.7960del (p.Thr2654fs)
|
rs1305971005
|
|
NM_000038.6(APC):c.7964_7965del (p.Glu2655fs)
|
rs2149997043
|
|
NM_000038.6(APC):c.7966_7968delinsTA (p.Glu2655_Asp2656insTer)
|
|
|
NM_000038.6(APC):c.800del (p.Gly267fs)
|
rs863225372
|
|
NM_000038.6(APC):c.8025del (p.Thr2676fs)
|
|
|
NM_000038.6(APC):c.802G>T (p.Glu268Ter)
|
rs1326410920
|
|
NM_000038.6(APC):c.805del (p.Ile269fs)
|
|
|
NM_000038.6(APC):c.8090C>G (p.Ser2697Ter)
|
|
|
NM_000038.6(APC):c.8153del (p.Leu2718fs)
|
|
|
NM_000038.6(APC):c.8216_8231del (p.Lys2739fs)
|
|
|
NM_000038.6(APC):c.821del (p.Ser274fs)
|
|
|
NM_000038.6(APC):c.824_825delinsA (p.Gly275fs)
|
|
|
NM_000038.6(APC):c.832C>T (p.Gln278Ter)
|
rs1554076217
|
|
NM_000038.6(APC):c.838_844del (p.Ser280fs)
|
rs2149762337
|
|
NM_000038.6(APC):c.841dup (p.Thr281fs)
|
rs2149762397
|
|
NM_000038.6(APC):c.847C>T (p.Arg283Ter)
|
rs786201856
|
|
NM_000038.6(APC):c.851_854del (p.Met284fs)
|
|
|
NM_000038.6(APC):c.853_859del (p.Asp285fs)
|
|
|
NM_000038.6(APC):c.853_859dup (p.Glu287delinsGlyProTer)
|
|
|
NM_000038.6(APC):c.860_862delinsTT (p.Glu287fs)
|
|
|
NM_000038.6(APC):c.865del (p.Ala289fs)
|
|
|
NM_000038.6(APC):c.875del (p.Val291_Leu292insTer)
|
rs1762417302
|
|
NM_000038.6(APC):c.878del (p.Ser293fs)
|
rs1580511939
|
|
NM_000038.6(APC):c.889dup (p.Thr297fs)
|
|
|
NM_000038.6(APC):c.893_896del (p.His298fs)
|
|
|
NM_000038.6(APC):c.896_897del (p.Ser299fs)
|
rs397515735
|
|
NM_000038.6(APC):c.897del (p.Ala300fs)
|
|
|
NM_000038.6(APC):c.898dup (p.Ala300fs)
|
|
|
NM_000038.6(APC):c.899del (p.Ala300fs)
|
|
|
NM_000038.6(APC):c.902del (p.Pro301fs)
|
|
|
NM_000038.6(APC):c.904C>T (p.Arg302Ter)
|
rs137854568
|
|
NM_000038.6(APC):c.907del (p.Arg303fs)
|
|
|
NM_000038.6(APC):c.909del (p.Arg303fs)
|
|
|
NM_000038.6(APC):c.912dup (p.Thr305fs)
|
|
|
NM_000038.6(APC):c.923dup (p.Thr310fs)
|
|
|
NM_000038.6(APC):c.931A>T (p.Lys311Ter)
|
rs1064794114
|
|
NM_000038.6(APC):c.935dup (p.Glu313fs)
|
rs587781451
|
|
NM_000038.6(APC):c.937_938del (p.Glu313fs)
|
rs387906239
|
|
NM_000038.6(APC):c.948T>A (p.Tyr316Ter)
|
|
|
NM_000038.6(APC):c.950C>G (p.Ser317Ter)
|
|
|
NM_000038.6(APC):c.956T>A (p.Leu319Ter)
|
|
|
NM_000038.6(APC):c.956del (p.Leu319fs)
|
rs1064793530
|
|
NM_000038.6(APC):c.959C>A (p.Ser320Ter)
|
|
|
NM_000038.6(APC):c.989del (p.Met330fs)
|
rs1561540666
|
|
NM_000038.6(APC):c.994C>T (p.Arg332Ter)
|
rs775126020
|
|
NM_000049.4(ASPA):c.693C>A (p.Tyr231Ter)
|
rs12948217
|
|
NM_000051.4(ATM):c.1045_1052del (p.Met349fs)
|
rs1565375817
|
|
NM_000051.4(ATM):c.1076_1096delinsTGTAAGG (p.Glu359_Ile366delinsValTer)
|
|
|
NM_000051.4(ATM):c.1165del (p.Lys388_Ile389insTer)
|
|
|
NM_000051.4(ATM):c.1168G>T (p.Glu390Ter)
|
rs876660106
|
|
NM_000051.4(ATM):c.140C>G (p.Ser47Ter)
|
rs774185390
|
|
NM_000051.4(ATM):c.1486_1487insCA (p.Ser496fs)
|
|
|
NM_000051.4(ATM):c.1501C>T (p.Gln501Ter)
|
rs1281817400
|
|
NM_000051.4(ATM):c.1653del (p.Pro552fs)
|
rs2080167483
|
|
NM_000051.4(ATM):c.1736G>A (p.Trp579Ter)
|
|
|
NM_000051.4(ATM):c.1753_1756del (p.Leu585fs)
|
rs1555072008
|
|
NM_000051.4(ATM):c.1772dup (p.Asn591fs)
|
rs1591528248
|
|
NM_000051.4(ATM):c.1880del (p.Phe627fs)
|
|
|
NM_000051.4(ATM):c.1920del (p.Glu641fs)
|
|
|
NM_000051.4(ATM):c.1935del (p.Ser646fs)
|
|
|
NM_000051.4(ATM):c.1A>G (p.Met1Val)
|
rs730881359
|
|
NM_000051.4(ATM):c.2091del (p.Leu697fs)
|
|
|
NM_000051.4(ATM):c.2155_2174del (p.Ser719fs)
|
|
|
NM_000051.4(ATM):c.2165dup (p.Leu722fs)
|
rs1057516393
|
|
NM_000051.4(ATM):c.2301_2304del (p.Asn768fs)
|
rs1565397179
|
|
NM_000051.4(ATM):c.2574dup (p.Asn859Ter)
|
rs587778068
|
|
NM_000051.4(ATM):c.2663_2664delinsT (p.Glu888fs)
|
|
|
NM_000051.4(ATM):c.2966dup (p.Ile990fs)
|
rs1555085060
|
|
NM_000051.4(ATM):c.2989del (p.His996_Val997insTer)
|
|
|
NM_000051.4(ATM):c.299T>A (p.Leu100Ter)
|
rs761936549
|
|
NM_000051.4(ATM):c.3289_3299delinsGTGTCCA (p.Phe1097fs)
|
|
|
NM_000051.4(ATM):c.3351_3354del (p.Thr1118fs)
|
rs1057516446
|
|
NM_000051.4(ATM):c.3526_3527del (p.Leu1176fs)
|
|
|
NM_000051.4(ATM):c.3699_3703del (p.Pro1235fs)
|
rs2082305146
|
|
NM_000051.4(ATM):c.3928C>T (p.Gln1310Ter)
|
|
|
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs)
|
rs1555093684
|
|
NM_000051.4(ATM):c.4236del (p.Asp1413fs)
|
rs1565455297
|
|
NM_000051.4(ATM):c.4421_4432delinsCAACT (p.His1474fs)
|
|
|
NM_000051.4(ATM):c.4490T>G (p.Leu1497Ter)
|
|
|
NM_000051.4(ATM):c.4622T>A (p.Leu1541Ter)
|
|
|
NM_000051.4(ATM):c.4680del (p.Lys1560fs)
|
|
|
NM_000051.4(ATM):c.4734_4736delinsCC (p.Gln1578fs)
|
|
|
NM_000051.4(ATM):c.4774G>T (p.Glu1592Ter)
|
rs876658587
|
|
NM_000051.4(ATM):c.5205del (p.Cys1736fs)
|
|
|
NM_000051.4(ATM):c.5312_5313delinsC (p.Arg1771fs)
|
|
|
NM_000051.4(ATM):c.5335del (p.Arg1779fs)
|
|
|
NM_000051.4(ATM):c.5469del (p.Leu1824fs)
|
|
|
NM_000051.4(ATM):c.5508_5509delinsG (p.Asp1836fs)
|
|
|
NM_000051.4(ATM):c.5610del (p.Phe1870fs)
|
|
|
NM_000051.4(ATM):c.5672C>A (p.Ser1891Ter)
|
|
|
NM_000051.4(ATM):c.5699_5700del (p.Cys1900fs)
|
|
|
NM_000051.4(ATM):c.5719_5722del (p.Arg1907fs)
|
rs1591732123
|
|
NM_000051.4(ATM):c.5839del (p.Ser1947fs)
|
rs2136015541
|
|
NM_000051.4(ATM):c.5991del (p.Gly1998fs)
|
rs1591758884
|
|
NM_000051.4(ATM):c.6021_6022dup (p.Ile2008fs)
|
|
|
NM_000051.4(ATM):c.6142del (p.Thr2048fs)
|
|
|
NM_000051.4(ATM):c.6194_6197dup (p.Gln2066fs)
|
|
|
NM_000051.4(ATM):c.6273del (p.Trp2091fs)
|
rs1565503137
|
|
NM_000051.4(ATM):c.6577_6580dup (p.Thr2194fs)
|
|
|
NM_000051.4(ATM):c.6633dup (p.Leu2212fs)
|
|
|
NM_000051.4(ATM):c.6671dup (p.Met2224fs)
|
|
|
NM_000051.4(ATM):c.6695del (p.Glu2232fs)
|
|
|
NM_000051.4(ATM):c.6730dup (p.Arg2244fs)
|
rs1060501543
|
|
NM_000051.4(ATM):c.6843C>A (p.Tyr2281Ter)
|
|
|
NM_000051.4(ATM):c.6872G>A (p.Trp2291Ter)
|
rs2136334561
|
|
NM_000051.4(ATM):c.6889dup (p.Gln2297fs)
|
|
|
NM_000051.4(ATM):c.7166C>A (p.Ser2389Ter)
|
rs1018140779
|
|
NM_000051.4(ATM):c.7349T>G (p.Leu2450Ter)
|
|
|
NM_000051.4(ATM):c.7372del (p.Asp2458fs)
|
|
|
NM_000051.4(ATM):c.7519_7520del
|
rs587781905
|
|
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer)
|
rs876659003
|
|
NM_000051.4(ATM):c.7636del (p.Ser2546fs)
|
|
|
NM_000051.4(ATM):c.7694dup (p.Asn2565fs)
|
rs1591171790
|
|
NM_000051.4(ATM):c.8052_8055del (p.Gln2684fs)
|
rs1591191412
|
|
NM_000051.4(ATM):c.8054_8093dup (p.Leu2698delinsPheIleTer)
|
|
|
NM_000051.4(ATM):c.8101dup (p.Ile2701fs)
|
rs2086682689
|
|
NM_000051.4(ATM):c.8135_8139del (p.Arg2712fs)
|
rs2136663735
|
|
NM_000051.4(ATM):c.8161_8163delinsAG (p.Asp2721fs)
|
|
|
NM_000051.4(ATM):c.8182dup (p.Met2728fs)
|
rs2136693800
|
|
NM_000051.4(ATM):c.8274del (p.Leu2760fs)
|
|
|
NM_000051.4(ATM):c.8281_8284del (p.Gln2762fs)
|
rs775899653
|
|
NM_000051.4(ATM):c.8551_8554dup (p.Tyr2852fs)
|
rs2088299549
|
|
NM_000051.4(ATM):c.8555dup (p.Tyr2852Ter)
|
|
|
NM_000051.4(ATM):c.8652dup (p.Leu2885fs)
|
rs2088559453
|
|
NM_000051.4(ATM):c.8683G>T (p.Glu2895Ter)
|
|
|
NM_000051.4(ATM):c.879del (p.Gly294fs)
|
|
|
NM_000051.4(ATM):c.8965C>T (p.Gln2989Ter)
|
rs147695170
|
|
NM_000057.4(BLM):c.2207_2212delinsTAGATTC (p.Tyr736fs)
|
rs113993962
|
|
NM_000059.4(BRCA2):c.1010dup (p.Asn337fs)
|
rs2072402499
|
|
NM_000059.4(BRCA2):c.1024dup (p.Glu342fs)
|
|
|
NM_000059.4(BRCA2):c.1062dup (p.Val355fs)
|
rs1555281716
|
|
NM_000059.4(BRCA2):c.1065dup (p.Ser356fs)
|
|
|
NM_000059.4(BRCA2):c.1134dup (p.Gly379fs)
|
|
|
NM_000059.4(BRCA2):c.1152del (p.Lys385fs)
|
|
|
NM_000059.4(BRCA2):c.1333del (p.Ser445fs)
|
|
|
NM_000059.4(BRCA2):c.1368_1369del (p.Lys457fs)
|
rs397507583
|
|
NM_000059.4(BRCA2):c.1435del (p.Asp479fs)
|
|
|
NM_000059.4(BRCA2):c.1442_1449del (p.Ile481fs)
|
|
|
NM_000059.4(BRCA2):c.1472del (p.Thr491fs)
|
|
|
NM_000059.4(BRCA2):c.1501_1502dup (p.Lys502fs)
|
|
|
NM_000059.4(BRCA2):c.1512_1513insG (p.Ile505fs)
|
|
|
NM_000059.4(BRCA2):c.1587_1591del (p.Phe529fs)
|
|
|
NM_000059.4(BRCA2):c.1689del (p.Trp563fs)
|
rs876659278
|
|
NM_000059.4(BRCA2):c.1713del (p.Ser571_Val572insTer)
|
|
|
NM_000059.4(BRCA2):c.171del (p.Asn56_Tyr57insTer)
|
rs1555280367
|
|
NM_000059.4(BRCA2):c.1748_1750delinsGG (p.Leu583fs)
|
|
|
NM_000059.4(BRCA2):c.1803del (p.Gly602fs)
|
|
|
NM_000059.4(BRCA2):c.1848T>A (p.Cys616Ter)
|
|
|
NM_000059.4(BRCA2):c.1921del (p.Ser641fs)
|
|
|
NM_000059.4(BRCA2):c.1959dup (p.Glu654fs)
|
|
|
NM_000059.4(BRCA2):c.2019del (p.Asn673fs)
|
|
|
NM_000059.4(BRCA2):c.2039_2043del (p.Thr680fs)
|
|
|
NM_000059.4(BRCA2):c.2096del (p.Gln699fs)
|
|
|
NM_000059.4(BRCA2):c.2156del (p.Asn719fs)
|
|
|
NM_000059.4(BRCA2):c.215del (p.Asn72fs)
|
|
|
NM_000059.4(BRCA2):c.2225_2252dup (p.Thr751_Asp752insThrPheLysSerGlyIleGlnTer)
|
|
|
NM_000059.4(BRCA2):c.2415del (p.Asp806fs)
|
|
|
NM_000059.4(BRCA2):c.2495_2502del (p.Glu832fs)
|
|
|
NM_000059.4(BRCA2):c.2507del (p.Pro836fs)
|
|
|
NM_000059.4(BRCA2):c.2554_2559delinsT (p.Phe851_Asn852insTer)
|
|
|
NM_000059.4(BRCA2):c.2648_2650delinsCC (p.Phe883fs)
|
|
|
NM_000059.4(BRCA2):c.2715_2716insTA (p.Thr906Ter)
|
|
|
NM_000059.4(BRCA2):c.2734dup (p.Thr912fs)
|
|
|
NM_000059.4(BRCA2):c.2802dup (p.Asp935Ter)
|
|
|
NM_000059.4(BRCA2):c.2902_2911del (p.Leu967_Gly968insTer)
|
|
|
NM_000059.4(BRCA2):c.2928_2941delinsG (p.Leu977fs)
|
|
|
NM_000059.4(BRCA2):c.2931_2932delinsT (p.Leu977fs)
|
|
|
NM_000059.4(BRCA2):c.3053dup (p.Leu1019fs)
|
|
|
NM_000059.4(BRCA2):c.3068dup (p.Asn1023fs)
|
rs80359368
|
|
NM_000059.4(BRCA2):c.3133_3134del (p.Cys1044_Val1045insTer)
|
rs1593898654
|
|
NM_000059.4(BRCA2):c.3205_3206insTAATTGCAGTCAATTAATA (p.Ser1069delinsLeuIleAlaValAsnTer)
|
rs1064795469
|
|
NM_000059.4(BRCA2):c.3251_3254del (p.Ser1084fs)
|
rs2072475980
|
|
NM_000059.4(BRCA2):c.3291dup (p.Asn1098Ter)
|
rs690016540
|
|
NM_000059.4(BRCA2):c.3346_3347delinsT (p.Thr1116fs)
|
|
|
NM_000059.4(BRCA2):c.3385_3386del (p.Gln1129fs)
|
|
|
NM_000059.4(BRCA2):c.3460_3461insG (p.Thr1154fs)
|
|
|
NM_000059.4(BRCA2):c.3460del (p.Thr1154fs)
|
|
|
NM_000059.4(BRCA2):c.3472G>T (p.Glu1158Ter)
|
rs1555283258
|
|
NM_000059.4(BRCA2):c.3476del (p.Cys1159fs)
|
|
|
NM_000059.4(BRCA2):c.3567dup (p.Arg1190fs)
|
|
|
NM_000059.4(BRCA2):c.3653dup (p.Phe1219fs)
|
|
|
NM_000059.4(BRCA2):c.3715A>T (p.Lys1239Ter)
|
|
|
NM_000059.4(BRCA2):c.4050dup (p.Lys1351Ter)
|
|
|
NM_000059.4(BRCA2):c.417del (p.Ser140fs)
|
|
|
NM_000059.4(BRCA2):c.444T>A (p.Cys148Ter)
|
rs2137449498
|
|
NM_000059.4(BRCA2):c.4483_4484del (p.Val1495fs)
|
rs886038105
|
|
NM_000059.4(BRCA2):c.4547_4553dup (p.Glu1518fs)
|
|
|
NM_000059.4(BRCA2):c.4647del (p.Glu1550fs)
|
rs1593902999
|
|
NM_000059.4(BRCA2):c.4691del (p.Ala1564fs)
|
|
|
NM_000059.4(BRCA2):c.4773_4774del (p.Cys1591_Lys1592delinsTer)
|
|
|
NM_000059.4(BRCA2):c.4793_4794del (p.Leu1598fs)
|
rs2137510225
|
|
NM_000059.4(BRCA2):c.4812del (p.Val1605fs)
|
|
|
NM_000059.4(BRCA2):c.4817del (p.Ser1606fs)
|
|
|
NM_000059.4(BRCA2):c.483T>A (p.Cys161Ter)
|
|
|
NM_000059.4(BRCA2):c.4888del (p.Ser1630fs)
|
|
|
NM_000059.4(BRCA2):c.5061_5062insCATTACTTCATTACTT (p.Glu1688delinsHisTyrPheIleThrTer)
|
|
|
NM_000059.4(BRCA2):c.5075G>A (p.Trp1692Ter)
|
rs1555284058
|
|
NM_000059.4(BRCA2):c.5150_5226delinsTACTTAATACTTATTAAGTATTA (p.Glu1717_Asn1742delinsValLeuAsnThrTyrTer)
|
rs2137514445
|
|
NM_000059.4(BRCA2):c.566_567insG (p.Asp189fs)
|
rs886040603
|
|
NM_000059.4(BRCA2):c.5811_5812del (p.Gly1938fs)
|
rs886040612
|
|
NM_000059.4(BRCA2):c.5826_5827del (p.Val1942_Ser1943insTer)
|
rs1555284412
|
|
NM_000059.4(BRCA2):c.584C>A (p.Ser195Ter)
|
|
|
NM_000059.4(BRCA2):c.5871_5872del (p.Ile1957fs)
|
|
|
NM_000059.4(BRCA2):c.5875_5876delinsTTT (p.Lys1959fs)
|
rs1593906774
|
|
NM_000059.4(BRCA2):c.5879_5883del (p.Cys1960fs)
|
|
|
NM_000059.4(BRCA2):c.6010G>T (p.Glu2004Ter)
|
|
|
NM_000059.4(BRCA2):c.6052dup (p.Ser2018fs)
|
|
|
NM_000059.4(BRCA2):c.6103dup (p.Thr2035fs)
|
|
|
NM_000059.4(BRCA2):c.6222_6223dup (p.Lys2075fs)
|
|
|
NM_000059.4(BRCA2):c.6260_6261del (p.Arg2087fs)
|
|
|
NM_000059.4(BRCA2):c.6289dup (p.Thr2097fs)
|
|
|
NM_000059.4(BRCA2):c.6291_6293delinsT (p.Thr2097_Ser2098insTer)
|
|
|
NM_000059.4(BRCA2):c.6407dup (p.Leu2136fs)
|
|
|
NM_000059.4(BRCA2):c.6582del (p.Ile2194fs)
|
rs1566234955
|
|
NM_000059.4(BRCA2):c.6828_6829insTAGAGCCC (p.Leu2277Ter)
|
|
|
NM_000059.4(BRCA2):c.6977_6980del (p.Val2325_Ser2326insTer)
|
|
|
NM_000059.4(BRCA2):c.7005del (p.Arg2336fs)
|
rs2072615390
|
|
NM_000059.4(BRCA2):c.7072_7075delinsCCT (p.Ser2358fs)
|
|
|
NM_000059.4(BRCA2):c.7111dup (p.Ser2371fs)
|
|
|
NM_000059.4(BRCA2):c.7163del (p.Thr2388fs)
|
|
|
NM_000059.4(BRCA2):c.7281del (p.Leu2428fs)
|
|
|
NM_000059.4(BRCA2):c.7356_7375delinsAACAGTTTAAC (p.Asn2452_Lys2459delinsLysThrValTer)
|
|
|
NM_000059.4(BRCA2):c.7433del (p.Pro2477_Leu2478insTer)
|
|
|
NM_000059.4(BRCA2):c.7486_7507dup (p.Val2503fs)
|
|
|
NM_000059.4(BRCA2):c.7492A>T (p.Lys2498Ter)
|
|
|
NM_000059.4(BRCA2):c.7500_7501del (p.Gln2501fs)
|
|
|
NM_000059.4(BRCA2):c.7580_7583dup (p.Gly2529fs)
|
rs1555286296
|
|
NM_000059.4(BRCA2):c.7618-2A>T
|
|
|
NM_000059.4(BRCA2):c.7632del (p.Val2545fs)
|
|
|
NM_000059.4(BRCA2):c.7663A>T (p.Lys2555Ter)
|
|
|
NM_000059.4(BRCA2):c.7711dup (p.Glu2571fs)
|
|
|
NM_000059.4(BRCA2):c.7729_7732del (p.Lys2577fs)
|
|
|
NM_000059.4(BRCA2):c.7803del (p.Phe2600_Tyr2601insTer)
|
|
|
NM_000059.4(BRCA2):c.7806-2A>C
|
rs81002836
|
|
NM_000059.4(BRCA2):c.7827dup (p.Val2610fs)
|
|
|
NM_000059.4(BRCA2):c.782del (p.Ala261fs)
|
|
|
NM_000059.4(BRCA2):c.7858_7859del (p.Val2620fs)
|
|
|
NM_000059.4(BRCA2):c.800del (p.Gly267fs)
|
|
|
NM_000059.4(BRCA2):c.8172del (p.Trp2725fs)
|
|
|
NM_000059.4(BRCA2):c.8225_8232del (p.Asn2742fs)
|
|
|
NM_000059.4(BRCA2):c.8295T>A (p.Cys2765Ter)
|
rs886040756
|
|
NM_000059.4(BRCA2):c.830dup (p.Asn277fs)
|
|
|
NM_000059.4(BRCA2):c.8384_8395del (p.Phe2795_Arg2799delinsTer)
|
rs587781689
|
|
NM_000059.4(BRCA2):c.8393_8399del (p.Pro2798fs)
|
rs886040769
|
|
NM_000059.4(BRCA2):c.8404_8405delinsT (p.Pro2802fs)
|
|
|
NM_000059.4(BRCA2):c.8437_8438insTTTC (p.Gly2813fs)
|
|
|
NM_000059.4(BRCA2):c.8513T>A (p.Leu2838Ter)
|
rs886040779
|
|
NM_000059.4(BRCA2):c.8533del (p.Arg2845fs)
|
|
|
NM_000059.4(BRCA2):c.8545_8546del (p.Lys2849fs)
|
|
|
NM_000059.4(BRCA2):c.8606_8607del (p.Ile2869fs)
|
|
|
NM_000059.4(BRCA2):c.8747_8750del (p.Tyr2916fs)
|
|
|
NM_000059.4(BRCA2):c.8755-1_8776dup
|
rs1593936490
|
|
NM_000059.4(BRCA2):c.8881_8882del (p.Gly2961fs)
|
|
|
NM_000059.4(BRCA2):c.8884delinsCC (p.Leu2962fs)
|
|
|
NM_000059.4(BRCA2):c.8955del (p.Ile2986fs)
|
|
|
NM_000059.4(BRCA2):c.898_899delinsCTTC (p.Val300fs)
|
|
|
NM_000059.4(BRCA2):c.9519C>A (p.Cys3173Ter)
|
|
|
NM_000059.4(BRCA2):c.9523dup (p.Glu3175fs)
|
|
|
NM_000059.4(BRCA2):c.967del (p.Lys322_Val323insTer)
|
|
|
NM_000059.4(BRCA2):c.9706A>T (p.Lys3236Ter)
|
rs80359239
|
|
NM_000059.4(BRCA2):c.971del (p.Arg324fs)
|
|
|
NM_000070.3(CAPN3):c.1992+1G>T
|
rs863224961
|
|
NM_000070.3(CAPN3):c.550del (p.Thr184fs)
|
rs80338800
|
|
NM_000071.3(CBS):c.209+1G>A
|
rs751464024
|
|
NM_000077.5(CDKN2A):c.165C>T (p.Gly55=)
|
|
|
NM_000077.5(CDKN2A):c.240_253del (p.Pro81fs)
|
rs730881675
|
|
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp)
|
rs104894094
|
|
NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp)
|
rs104894098
|
|
NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs)
|
rs397509431
|
|
NM_000135.4(FANCA):c.1A>C (p.Met1Leu)
|
rs772751654
|
|
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)
|
rs397507553
|
|
NM_000136.3(FANCC):c.67del (p.Asp23fs)
|
rs104886459
|
|
NM_000143.4(FH):c.1027C>T (p.Arg343Ter)
|
rs121913122
|
|
NM_000143.4(FH):c.1083_1086del (p.Glu362fs)
|
rs756469140
|
|
NM_000143.4(FH):c.1127_1128del (p.Gln376fs)
|
|
|
NM_000143.4(FH):c.1293del (p.Glu432fs)
|
rs398123163
|
|
NM_000143.4(FH):c.1294_1336dup (p.Asn446fs)
|
rs1553340686
|
|
NM_000143.4(FH):c.139C>T (p.Gln47Ter)
|
rs863223980
|
|
NM_000143.4(FH):c.1475_1476del (p.Leu492fs)
|
rs886041201
|
|
NM_000143.4(FH):c.1477dup (p.Thr493fs)
|
|
|
NM_000143.4(FH):c.201T>G (p.Tyr67Ter)
|
rs1558402241
|
|
NM_000143.4(FH):c.204T>A (p.Tyr68Ter)
|
rs1060500883
|
|
NM_000143.4(FH):c.233dup (p.Asn78fs)
|
|
|
NM_000143.4(FH):c.239dup (p.Ile81fs)
|
rs1553341942
|
|
NM_000143.4(FH):c.301_319del (p.Arg101fs)
|
rs1558401094
|
|
NM_000143.4(FH):c.395_399del (p.Lys131_Leu132insTer)
|
rs863223995
|
|
NM_000143.4(FH):c.415del (p.Val139fs)
|
|
|
NM_000143.4(FH):c.490del (p.Met164fs)
|
|
|
NM_000143.4(FH):c.587_593del (p.His196fs)
|
|
|
NM_000143.4(FH):c.668_669del (p.Lys223fs)
|
rs886039364
|
|
NM_000143.4(FH):c.738+1G>A
|
rs1659988368
|
|
NM_000143.4(FH):c.809_810del (p.Ile269_Tyr270insTer)
|
rs1553341163
|
|
NM_000143.4(FH):c.824_827dup (p.Thr277fs)
|
rs1659922131
|
|
NM_000143.4(FH):c.907_910del (p.Pro304fs)
|
|
|
NM_000143.4(FH):c.912_918del (p.Phe305fs)
|
rs794727836
|
|
NM_000143.4(FH):c.952C>T (p.His318Tyr)
|
rs398123168
|
|
NM_000151.4(G6PC1):c.229T>C (p.Trp77Arg)
|
rs104894566
|
|
NM_000151.4(G6PC1):c.379_380dup (p.Tyr128fs)
|
rs80356488
|
|
NM_000151.4(G6PC1):c.79del (p.Gln27fs)
|
rs80356479
|
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)
|
rs421016
|
|
NM_000158.4(GBE1):c.986A>C (p.Tyr329Ser)
|
rs80338671
|
|
NM_000179.2(MSH6):c.3647delG
|
rs1064795629
|
|
NM_000179.3(MSH6):c.1010dup (p.Leu337fs)
|
|
|
NM_000179.3(MSH6):c.1012A>T (p.Arg338Ter)
|
rs1114167804
|
|
NM_000179.3(MSH6):c.1028dup (p.Gln344fs)
|
|
|
NM_000179.3(MSH6):c.1030C>T (p.Gln344Ter)
|
rs730881815
|
|
NM_000179.3(MSH6):c.1039G>T (p.Glu347Ter)
|
rs1669287624
|
|
NM_000179.3(MSH6):c.1039_1040insC (p.Glu347fs)
|
rs1553412441
|
|
NM_000179.3(MSH6):c.1045C>T (p.Gln349Ter)
|
rs863224473
|
|
NM_000179.3(MSH6):c.1059_1063del (p.Ser353fs)
|
rs786202336
|
|
NM_000179.3(MSH6):c.1093_1099dup (p.His367fs)
|
rs1572721655
|
|
NM_000179.3(MSH6):c.1093dup (p.Trp365fs)
|
|
|
NM_000179.3(MSH6):c.1095G>A (p.Trp365Ter)
|
rs1272484865
|
|
NM_000179.3(MSH6):c.1102G>T (p.Glu368Ter)
|
|
|
NM_000179.3(MSH6):c.1102_1162dup (p.His388delinsArgAsnPheArgMetAlaTer)
|
rs1553412502
|
|
NM_000179.3(MSH6):c.1108_1109del (p.Leu370fs)
|
rs786204252
|
|
NM_000179.3(MSH6):c.1115G>A (p.Trp372Ter)
|
rs1114167731
|
|
NM_000179.3(MSH6):c.1128_1132del (p.Arg378_Arg379insTer)
|
rs1114167801
|
|
NM_000179.3(MSH6):c.1129A>T (p.Lys377Ter)
|
|
|
NM_000179.3(MSH6):c.1133_1134del (p.Arg378fs)
|
rs2104321566
|
|
NM_000179.3(MSH6):c.1134_1135del (p.Arg379_Asp380insTer)
|
rs876660549
|
|
NM_000179.3(MSH6):c.1135A>T (p.Arg379Ter)
|
rs1432436629
|
|
NM_000179.3(MSH6):c.1135_1139del (p.Arg378_Arg379insTer)
|
rs267608077
|
|
NM_000179.3(MSH6):c.1139_1143del (p.Asp380fs)
|
rs587779206
|
|
NM_000179.3(MSH6):c.1141G>T (p.Glu381Ter)
|
|
|
NM_000179.3(MSH6):c.1141del (p.Glu381fs)
|
|
|
NM_000179.3(MSH6):c.114del (p.Ala40fs)
|
rs1558644995
|
|
NM_000179.3(MSH6):c.1150dup (p.Arg384fs)
|
|
|
NM_000179.3(MSH6):c.1153del (p.Arg385fs)
|
|
|
NM_000179.3(MSH6):c.1168_1170delinsAA (p.Asp390fs)
|
rs863225398
|
|
NM_000179.3(MSH6):c.1173del (p.Phe391fs)
|
|
|
NM_000179.3(MSH6):c.1176_1178delinsGGAA (p.Asp392fs)
|
rs1114167718
|
|
NM_000179.3(MSH6):c.1188_1189del (p.Tyr397fs)
|
|
|
NM_000179.3(MSH6):c.1189dup (p.Tyr397fs)
|
rs1553412609
|
|
NM_000179.3(MSH6):c.118del (p.Ala40fs)
|
rs2103936997
|
|
NM_000179.3(MSH6):c.1190_1191del (p.Tyr397fs)
|
rs63750439
|
|
NM_000179.3(MSH6):c.1191T>A (p.Tyr397Ter)
|
|
|
NM_000179.3(MSH6):c.1217_1220delinsATA (p.Cys406fs)
|
|
|
NM_000179.3(MSH6):c.1233_1236del (p.Arg411fs)
|
rs2104329814
|
|
NM_000179.3(MSH6):c.1233dup (p.Lys412fs)
|
rs2104329942
|
|
NM_000179.3(MSH6):c.1234A>T (p.Lys412Ter)
|
|
|
NM_000179.3(MSH6):c.1238G>A (p.Trp413Ter)
|
rs786201049
|
|
NM_000179.3(MSH6):c.1239G>A (p.Trp413Ter)
|
|
|
NM_000179.3(MSH6):c.123_124del (p.Pro42fs)
|
|
|
NM_000179.3(MSH6):c.1242G>A (p.Trp414Ter)
|
rs1007311950
|
|
NM_000179.3(MSH6):c.1243C>T (p.Gln415Ter)
|
rs1114167756
|
|
NM_000179.3(MSH6):c.1248dup (p.Lys417Ter)
|
rs778555956
|
|
NM_000179.3(MSH6):c.1254_1255del (p.Gln419fs)
|
rs1553412696
|
|
NM_000179.3(MSH6):c.1255C>T (p.Gln419Ter)
|
rs762814792
|
|
NM_000179.3(MSH6):c.1255_1268del (p.Gln419fs)
|
rs876661251
|
|
NM_000179.3(MSH6):c.125_132dup (p.Gly45fs)
|
rs1553408245
|
|
NM_000179.3(MSH6):c.1263_1311dup (p.Met438Ter)
|
|
|
NM_000179.3(MSH6):c.1266dup (p.Leu423fs)
|
|
|
NM_000179.3(MSH6):c.1275_1276del (p.Ile425fs)
|
rs1114167774
|
|
NM_000179.3(MSH6):c.1281C>A (p.Tyr427Ter)
|
rs1553412720
|
|
NM_000179.3(MSH6):c.1281C>G (p.Tyr427Ter)
|
rs1553412720
|
|
NM_000179.3(MSH6):c.1283dup (p.Val429fs)
|
|
|
NM_000179.3(MSH6):c.1290del (p.Lys431fs)
|
rs587782809
|
|
NM_000179.3(MSH6):c.1299T>A (p.Tyr433Ter)
|
rs267608055
|
|
NM_000179.3(MSH6):c.1299T>G (p.Tyr433Ter)
|
rs267608055
|
|
NM_000179.3(MSH6):c.1307_1310dup (p.His437fs)
|
rs2104335088
|
|
NM_000179.3(MSH6):c.1308C>A (p.Tyr436Ter)
|
rs761037236
|
|
NM_000179.3(MSH6):c.1308_1309del (p.Tyr436_His437delinsTer)
|
|
|
NM_000179.3(MSH6):c.1309dup (p.His437fs)
|
rs1558661308
|
|
NM_000179.3(MSH6):c.1312dup (p.Met438fs)
|
rs863225399
|
|
NM_000179.3(MSH6):c.1315_1318del (p.Asp439fs)
|
rs2104335533
|
|
NM_000179.3(MSH6):c.131del (p.Pro44fs)
|
|
|
NM_000179.3(MSH6):c.1324_1366dup (p.Trp456delinsTyrTrpSerGlnTer)
|
|
|
NM_000179.3(MSH6):c.1324dup (p.Ile442fs)
|
|
|
NM_000179.3(MSH6):c.1326del (p.Ile442fs)
|
rs1558661380
|
|
NM_000179.3(MSH6):c.1333_1334del (p.Val444_Ser445insTer)
|
rs1060502940
|
|
NM_000179.3(MSH6):c.1339dup (p.Leu447fs)
|
rs2104337509
|
|
NM_000179.3(MSH6):c.1345dup (p.Leu449fs)
|
rs2104337976
|
|
NM_000179.3(MSH6):c.1347_1372dup (p.His458delinsArgTyrSerTer)
|
|
|
NM_000179.3(MSH6):c.1350_1351del (p.Phe451fs)
|
rs878853702
|
|
NM_000179.3(MSH6):c.1352del (p.Phe451fs)
|
rs869312769
|
|
NM_000179.3(MSH6):c.1357A>T (p.Lys453Ter)
|
rs1669323917
|
|
NM_000179.3(MSH6):c.1367G>A (p.Trp456Ter)
|
rs587780538
|
|
NM_000179.3(MSH6):c.1368G>A (p.Trp456Ter)
|
rs1572722737
|
|
NM_000179.3(MSH6):c.136_158del (p.Gly46fs)
|
|
|
NM_000179.3(MSH6):c.1383dup (p.Pro462fs)
|
rs1553412804
|
|
NM_000179.3(MSH6):c.1387G>T (p.Glu463Ter)
|
rs864622435
|
|
NM_000179.3(MSH6):c.1390del (p.Ile464fs)
|
|
|
NM_000179.3(MSH6):c.1392del (p.Ile464fs)
|
rs2104340974
|
|
NM_000179.3(MSH6):c.1406del (p.Tyr469fs)
|
|
|
NM_000179.3(MSH6):c.1406delinsTG (p.Tyr469fs)
|
|
|
NM_000179.3(MSH6):c.1406dup (p.Tyr469Ter)
|
|
|
NM_000179.3(MSH6):c.1407T>G (p.Tyr469Ter)
|
|
|
NM_000179.3(MSH6):c.1417del (p.Leu473fs)
|
rs1553412824
|
|
NM_000179.3(MSH6):c.1421_1422dup (p.Gln475fs)
|
rs63750854
|
|
NM_000179.3(MSH6):c.1423C>T (p.Gln475Ter)
|
rs1553412835
|
|
NM_000179.3(MSH6):c.1426_1427insGGGCCGTTATTCAGATTCCCTGGTGCAGA (p.Lys476fs)
|
|
|
NM_000179.3(MSH6):c.1430dup (p.Tyr478fs)
|
rs1114167746
|
|
NM_000179.3(MSH6):c.1437del (p.Lys479_Val480insTer)
|
|
|
NM_000179.3(MSH6):c.1449_1450delinsCT (p.Glu484Ter)
|
|
|
NM_000179.3(MSH6):c.1449_1462delinsAGC (p.Glu484fs)
|
rs1114167715
|
|
NM_000179.3(MSH6):c.1450G>T (p.Glu484Ter)
|
rs587782706
|
|
NM_000179.3(MSH6):c.1458_1459del (p.Glu487fs)
|
rs1114167750
|
|
NM_000179.3(MSH6):c.1463del (p.Thr488fs)
|
|
|
NM_000179.3(MSH6):c.1468G>T (p.Glu490Ter)
|
|
|
NM_000179.3(MSH6):c.1483C>T (p.Arg495Ter)
|
rs587779212
|
|
NM_000179.3(MSH6):c.1492_1517dup (p.Asp506fs)
|
|
|
NM_000179.3(MSH6):c.1507_1519dup (p.Arg507delinsIleGlnValTer)
|
|
|
NM_000179.3(MSH6):c.1510A>T (p.Lys504Ter)
|
|
|
NM_000179.3(MSH6):c.1515T>G (p.Tyr505Ter)
|
rs878853704
|
|
NM_000179.3(MSH6):c.1519dup (p.Arg507fs)
|
rs876658881
|
|
NM_000179.3(MSH6):c.151_167del (p.Ser51fs)
|
|
|
NM_000179.3(MSH6):c.151_167dup (p.Pro57fs)
|
rs1553408267
|
|
NM_000179.3(MSH6):c.154G>T (p.Glu52Ter)
|
rs1114167719
|
|
NM_000179.3(MSH6):c.1564C>T (p.Gln522Ter)
|
|
|
NM_000179.3(MSH6):c.1564_1565del (p.Gln522fs)
|
|
|
NM_000179.3(MSH6):c.1569_1572del (p.Tyr524fs)
|
rs2104352046
|
|
NM_000179.3(MSH6):c.1571dup (p.Tyr524Ter)
|
rs1553412966
|
|
NM_000179.3(MSH6):c.1572C>A (p.Tyr524Ter)
|
rs587779215
|
|
NM_000179.3(MSH6):c.1572C>G (p.Tyr524Ter)
|
rs587779215
|
|
NM_000179.3(MSH6):c.1572_1573del (p.Tyr524_Ser525delinsTer)
|
rs1114167702
|
|
NM_000179.3(MSH6):c.1572del (p.Thr523_Tyr524insTer)
|
|
|
NM_000179.3(MSH6):c.1577_1578del (p.Val526fs)
|
|
|
NM_000179.3(MSH6):c.1590del (p.Ser532fs)
|
rs587779216
|
|
NM_000179.3(MSH6):c.1593_1596del (p.Ser532fs)
|
|
|
NM_000179.3(MSH6):c.1594dup (p.Ser532fs)
|
|
|
NM_000179.3(MSH6):c.1596_1597del (p.Asn534fs)
|
rs1064794388
|
|
NM_000179.3(MSH6):c.1597G>T (p.Glu533Ter)
|
|
|
NM_000179.3(MSH6):c.159_171del (p.Gly56fs)
|
|
|
NM_000179.3(MSH6):c.1605C>G (p.Tyr535Ter)
|
|
|
NM_000179.3(MSH6):c.1606_1607del (p.Tyr535_Ser536insTer)
|
|
|
NM_000179.3(MSH6):c.1608dup (p.Lys537Ter)
|
rs1572723640
|
|
NM_000179.3(MSH6):c.1609A>T (p.Lys537Ter)
|
|
|
NM_000179.3(MSH6):c.1610_1613del (p.Lys537fs)
|
rs863224829
|
|
NM_000179.3(MSH6):c.1613_1616del (p.Tyr538fs)
|
rs1669352196
|
|
NM_000179.3(MSH6):c.1619_1620del (p.Leu540fs)
|
rs1553413006
|
|
NM_000179.3(MSH6):c.1627A>T (p.Lys543Ter)
|
|
|
NM_000179.3(MSH6):c.1628_1629del (p.Lys543fs)
|
rs587779219
|
|
NM_000179.3(MSH6):c.1630_1633del (p.Glu544fs)
|
rs1572723723
|
|
NM_000179.3(MSH6):c.1634_1635del (p.Lys545fs)
|
rs267608064
|
|
NM_000179.3(MSH6):c.1634_1637del (p.Lys545fs)
|
rs63749874
|
|
NM_000179.3(MSH6):c.1637_1638del (p.Glu546fs)
|
rs267608076
|
|
NM_000179.3(MSH6):c.1641dup (p.Asp548fs)
|
|
|
NM_000179.3(MSH6):c.1645del (p.Ser549fs)
|
rs876661033
|
|
NM_000179.3(MSH6):c.1646_1649del (p.Ser549fs)
|
|
|
NM_000179.3(MSH6):c.164_177del (p.Pro55fs)
|
rs1558645195
|
|
NM_000179.3(MSH6):c.164_182del (p.Pro55fs)
|
|
|
NM_000179.3(MSH6):c.1658dup (p.Arg554fs)
|
|
|
NM_000179.3(MSH6):c.1677C>A (p.Cys559Ter)
|
|
|
NM_000179.3(MSH6):c.1686_1687dup (p.Thr563fs)
|
|
|
NM_000179.3(MSH6):c.1691C>A (p.Ser564Ter)
|
rs864622153
|
|
NM_000179.3(MSH6):c.1691C>G (p.Ser564Ter)
|
rs864622153
|
|
NM_000179.3(MSH6):c.1696G>T (p.Gly566Ter)
|
rs63749973
|
|
NM_000179.3(MSH6):c.1705_1706del (p.Phe569fs)
|
rs587783056
|
|
NM_000179.3(MSH6):c.170_182del (p.Pro57fs)
|
rs876658296
|
|
NM_000179.3(MSH6):c.1714C>T (p.Gln572Ter)
|
rs1064795256
|
|
NM_000179.3(MSH6):c.171del (p.Arg58fs)
|
rs1553408306
|
|
NM_000179.3(MSH6):c.1729del (p.Arg577fs)
|
rs2104363773
|
|
NM_000179.3(MSH6):c.1738del (p.Ser580fs)
|
rs1553413116
|
|
NM_000179.3(MSH6):c.1739C>A (p.Ser580Ter)
|
rs41295270
|
|
NM_000179.3(MSH6):c.1742_1743del (p.Arg581fs)
|
|
|
NM_000179.3(MSH6):c.1751dup (p.Leu585fs)
|
|
|
NM_000179.3(MSH6):c.1753_1754del (p.Leu585fs)
|
|
|
NM_000179.3(MSH6):c.1754_1772del (p.Leu585fs)
|
|
|
NM_000179.3(MSH6):c.1762_1763insT (p.His588fs)
|
rs1553413138
|
|
NM_000179.3(MSH6):c.1767T>A (p.Tyr589Ter)
|
rs1558662873
|
|
NM_000179.3(MSH6):c.1767del (p.Pro591fs)
|
rs1114167765
|
|
NM_000179.3(MSH6):c.1772del (p.Pro591fs)
|
rs786202108
|
|
NM_000179.3(MSH6):c.1777C>T (p.Gln593Ter)
|
|
|
NM_000179.3(MSH6):c.1784T>G (p.Leu595Ter)
|
|
|
NM_000179.3(MSH6):c.1784del (p.Leu595fs)
|
rs267608050
|
|
NM_000179.3(MSH6):c.1789G>T (p.Glu597Ter)
|
rs1553413178
|
|
NM_000179.3(MSH6):c.1795G>T (p.Gly599Ter)
|
rs756043669
|
|
NM_000179.3(MSH6):c.179dup (p.Leu60fs)
|
|
|
NM_000179.3(MSH6):c.1804_1805del (p.Ser602fs)
|
rs1114167766
|
|
NM_000179.3(MSH6):c.1805C>A (p.Ser602Ter)
|
rs730881816
|
|
NM_000179.3(MSH6):c.1805C>G (p.Ser602Ter)
|
rs730881816
|
|
NM_000179.3(MSH6):c.1806_1809del (p.Glu604fs)
|
rs63750735
|
|
NM_000179.3(MSH6):c.1809_1813del (p.Lys603fs)
|
|
|
NM_000179.3(MSH6):c.1810G>T (p.Glu604Ter)
|
|
|
NM_000179.3(MSH6):c.1815_1816del (p.Lys606fs)
|
rs1060502886
|
|
NM_000179.3(MSH6):c.1819dup (p.Thr607fs)
|
rs587779221
|
|
NM_000179.3(MSH6):c.1828_1829del (p.Lys610fs)
|
|
|
NM_000179.3(MSH6):c.1829del (p.Lys610fs)
|
|
|
NM_000179.3(MSH6):c.1835C>A (p.Ser612Ter)
|
rs63750564
|
|
NM_000179.3(MSH6):c.1836dup (p.Leu613fs)
|
rs1669381138
|
|
NM_000179.3(MSH6):c.1842del (p.Cys615fs)
|
rs730881825
|
|
NM_000179.3(MSH6):c.1844_1848del (p.Cys615fs)
|
|
|
NM_000179.3(MSH6):c.1852C>T (p.Gln618Ter)
|
|
|
NM_000179.3(MSH6):c.1859del (p.Gly620fs)
|
|
|
NM_000179.3(MSH6):c.1866_1887del (p.Ile622fs)
|
|
|
NM_000179.3(MSH6):c.1866dup (p.Pro623fs)
|
rs2104372581
|
|
NM_000179.3(MSH6):c.1869del (p.Gly624fs)
|
rs71539659
|
|
NM_000179.3(MSH6):c.1871del (p.Gly624fs)
|
rs777159874
|
|
NM_000179.3(MSH6):c.1882del (p.Trp628fs)
|
|
|
NM_000179.3(MSH6):c.1883G>A (p.Trp628Ter)
|
rs863225401
|
|
NM_000179.3(MSH6):c.1900_1901del (p.Leu634fs)
|
rs587782638
|
|
NM_000179.3(MSH6):c.1901T>A (p.Leu634Ter)
|
rs63751097
|
|
NM_000179.3(MSH6):c.1901_1902del (p.Thr633_Leu634insTer)
|
rs267608082
|
|
NM_000179.3(MSH6):c.1901dup (p.Leu634fs)
|
rs587782638
|
|
NM_000179.3(MSH6):c.1910_1911del (p.Leu637fs)
|
rs1669391378
|
|
NM_000179.3(MSH6):c.1912del (p.Glu639fs)
|
rs1553413294
|
|
NM_000179.3(MSH6):c.1918del (p.Glu640fs)
|
|
|
NM_000179.3(MSH6):c.1921G>T (p.Glu641Ter)
|
rs1553413305
|
|
NM_000179.3(MSH6):c.1926_1930del (p.Tyr642_Arg644delinsTer)
|
rs2104376613
|
|
NM_000179.3(MSH6):c.1933G>T (p.Glu645Ter)
|
rs1064795591
|
|
NM_000179.3(MSH6):c.1933_1949del (p.Glu645fs)
|
rs1669395325
|
|
NM_000179.3(MSH6):c.1933del (p.Glu645fs)
|
rs1558663559
|
|
NM_000179.3(MSH6):c.1937del (p.Lys646fs)
|
rs1114167747
|
|
NM_000179.3(MSH6):c.1939_1948del (p.Leu647fs)
|
rs2104377567
|
|
NM_000179.3(MSH6):c.193_196delinsCTT (p.Ser65fs)
|
|
|
NM_000179.3(MSH6):c.1940dup (p.Ser648fs)
|
|
|
NM_000179.3(MSH6):c.194C>A (p.Ser65Ter)
|
|
|
NM_000179.3(MSH6):c.194C>G (p.Ser65Ter)
|
|
|
NM_000179.3(MSH6):c.1957_1960dup (p.Met654fs)
|
rs63751167
|
|
NM_000179.3(MSH6):c.1965dup (p.Pro656fs)
|
|
|
NM_000179.3(MSH6):c.1969C>T (p.Gln657Ter)
|
rs1114167709
|
|
NM_000179.3(MSH6):c.1969del (p.Gln657fs)
|
rs876661205
|
|
NM_000179.3(MSH6):c.1975_1976insCT (p.Leu659fs)
|
|
|
NM_000179.3(MSH6):c.1990dup (p.Ser664fs)
|
|
|
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.1994_1995del (p.Glu665fs)
|
rs1114167694
|
|
NM_000179.3(MSH6):c.2010del (p.Gly670_Leu671insTer)
|
rs1060502918
|
|
NM_000179.3(MSH6):c.2020_2057del (p.Gly674fs)
|
|
|
NM_000179.3(MSH6):c.2028_2029del (p.Lys676_Ser677insTer)
|
rs1064794055
|
|
NM_000179.3(MSH6):c.2036T>A (p.Leu679Ter)
|
|
|
NM_000179.3(MSH6):c.2036_2042delinsGG (p.Leu679fs)
|
rs876658864
|
|
NM_000179.3(MSH6):c.203del (p.Lys68fs)
|
|
|
NM_000179.3(MSH6):c.2045_2046del (p.Ser682fs)
|
rs267608057
|
|
NM_000179.3(MSH6):c.2050del (p.Ala683_Leu684insTer)
|
rs1553413424
|
|
NM_000179.3(MSH6):c.2056_2060delinsCTTCTACCTCAAAAA (p.Gly686fs)
|
rs878853711
|
|
NM_000179.3(MSH6):c.2061T>A (p.Cys687Ter)
|
rs267608068
|
|
NM_000179.3(MSH6):c.2062_2063del (p.Val688fs)
|
rs63750075
|
|
NM_000179.3(MSH6):c.2062_2147del (p.Val688fs)
|
|
|
NM_000179.3(MSH6):c.2067del (p.Tyr690fs)
|
|
|
NM_000179.3(MSH6):c.2074A>T (p.Lys692Ter)
|
|
|
NM_000179.3(MSH6):c.2079del (p.Lys693fs)
|
rs267608083
|
|
NM_000179.3(MSH6):c.2079dup (p.Cys694fs)
|
rs267608083
|
|
NM_000179.3(MSH6):c.2087_2093del (p.Ile696fs)
|
rs1114167733
|
|
NM_000179.3(MSH6):c.2092C>T (p.Gln698Ter)
|
rs63750832
|
|
NM_000179.3(MSH6):c.2095G>T (p.Glu699Ter)
|
rs1553413470
|
|
NM_000179.3(MSH6):c.2100_2105delinsA (p.Leu701fs)
|
|
|
NM_000179.3(MSH6):c.2105C>G (p.Ser702Ter)
|
rs63751419
|
|
NM_000179.3(MSH6):c.2118del (p.Phe706fs)
|
rs1572725803
|
|
NM_000179.3(MSH6):c.2122G>T (p.Glu708Ter)
|
rs1064795960
|
|
NM_000179.3(MSH6):c.2125dup (p.Tyr709fs)
|
rs587781650
|
|
NM_000179.3(MSH6):c.2127T>A (p.Tyr709Ter)
|
rs587779232
|
|
NM_000179.3(MSH6):c.2147_2148del (p.Thr716fs)
|
rs786204048
|
|
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs)
|
rs267608058
|
|
NM_000179.3(MSH6):c.2159del (p.Thr720fs)
|
|
|
NM_000179.3(MSH6):c.215_258del (p.Leu72fs)
|
rs1553408380
|
|
NM_000179.3(MSH6):c.2188dup (p.Tyr730fs)
|
|
|
NM_000179.3(MSH6):c.2191C>T (p.Gln731Ter)
|
rs63751442
|
|
NM_000179.3(MSH6):c.2194C>T (p.Arg732Ter)
|
rs63751127
|
|
NM_000179.3(MSH6):c.2199_2200del (p.Met733fs)
|
|
|
NM_000179.3(MSH6):c.2219T>G (p.Leu740Ter)
|
rs745483465
|
|
NM_000179.3(MSH6):c.2230dup (p.Glu744fs)
|
rs786201050
|
|
NM_000179.3(MSH6):c.2238dup (p.Leu747fs)
|
rs1553413599
|
|
NM_000179.3(MSH6):c.2239del (p.Phe746_Leu747insTer)
|
rs1572726309
|
|
NM_000179.3(MSH6):c.2260dup (p.Thr754fs)
|
rs1553413640
|
|
NM_000179.3(MSH6):c.2263_2273del (p.Glu755fs)
|
|
|
NM_000179.3(MSH6):c.2269_2270del (p.Thr757fs)
|
rs876661025
|
|
NM_000179.3(MSH6):c.2275del (p.Leu758_Leu759insTer)
|
|
|
NM_000179.3(MSH6):c.2275dup (p.Leu759fs)
|
rs2104397838
|
|
NM_000179.3(MSH6):c.2284dup (p.Val762fs)
|
|
|
NM_000179.3(MSH6):c.2287_2404dup (p.Pro802delinsArgTyrLeuProTyrSerPheTrpTer)
|
|
|
NM_000179.3(MSH6):c.2290dup (p.Thr764fs)
|
rs1553413663
|
|
NM_000179.3(MSH6):c.2291del (p.Thr764fs)
|
|
|
NM_000179.3(MSH6):c.2295C>A (p.Cys765Ter)
|
rs63750985
|
|
NM_000179.3(MSH6):c.2296dup (p.His766fs)
|
rs1114167712
|
|
NM_000179.3(MSH6):c.2308_2312delinsT (p.Gly770fs)
|
rs864622585
|
|
NM_000179.3(MSH6):c.2314C>T (p.Arg772Trp)
|
rs63750138
|
|
NM_000179.3(MSH6):c.2326C>T (p.Gln776Ter)
|
|
|
NM_000179.3(MSH6):c.2329_2330insA (p.Trp777Ter)
|
|
|
NM_000179.3(MSH6):c.2331G>A (p.Trp777Ter)
|
rs876660037
|
|
NM_000179.3(MSH6):c.2332_2335dup (p.Cys779fs)
|
|
|
NM_000179.3(MSH6):c.2335dup (p.Cys779fs)
|
rs2104401401
|
|
NM_000179.3(MSH6):c.2337T>A (p.Cys779Ter)
|
rs1553413707
|
|
NM_000179.3(MSH6):c.2338_2339del (p.Ala780fs)
|
|
|
NM_000179.3(MSH6):c.233_254dup (p.Thr86fs)
|
rs1553408413
|
|
NM_000179.3(MSH6):c.2346_2347del (p.Leu782_Cys783insTer)
|
rs1669451548
|
|
NM_000179.3(MSH6):c.2348_2349del (p.Leu782_Cys783insTer)
|
rs267608065
|
|
NM_000179.3(MSH6):c.2354_2355insAGCATTGGCTTTGTGCCCCACTCTGTAACCA (p.His785delinsGlnAlaLeuAlaLeuCysProThrLeuTer)
|
rs876661193
|
|
NM_000179.3(MSH6):c.236C>A (p.Ser79Ter)
|
|
|
NM_000179.3(MSH6):c.2386G>T (p.Glu796Ter)
|
rs1558665297
|
|
NM_000179.3(MSH6):c.2386_2387del (p.Glu796fs)
|
|
|
NM_000179.3(MSH6):c.2403dup (p.Pro802fs)
|
|
|
NM_000179.3(MSH6):c.2412_2413del (p.Lys804fs)
|
rs2104405276
|
|
NM_000179.3(MSH6):c.2419G>T (p.Glu807Ter)
|
rs587779923
|
|
NM_000179.3(MSH6):c.2419dup (p.Glu807fs)
|
rs1553413784
|
|
NM_000179.3(MSH6):c.2420_2421del (p.Glu807fs)
|
|
|
NM_000179.3(MSH6):c.2429del (p.Glu810fs)
|
rs1572727176
|
|
NM_000179.3(MSH6):c.2437_2440delinsTT (p.Lys813fs)
|
|
|
NM_000179.3(MSH6):c.2440A>T (p.Lys814Ter)
|
|
|
NM_000179.3(MSH6):c.2441dup (p.Leu815fs)
|
|
|
NM_000179.3(MSH6):c.2497_2501del (p.Lys833fs)
|
|
|
NM_000179.3(MSH6):c.24C>A (p.Tyr8Ter)
|
rs746306598
|
|
NM_000179.3(MSH6):c.24C>G (p.Tyr8Ter)
|
rs746306598
|
|
NM_000179.3(MSH6):c.2500_2501del (p.Gln835fs)
|
rs1064794164
|
|
NM_000179.3(MSH6):c.2502_2515del (p.Ser834fs)
|
|
|
NM_000179.3(MSH6):c.2503C>T (p.Gln835Ter)
|
rs63751321
|
|
NM_000179.3(MSH6):c.2521del (p.Arg841fs)
|
rs1114167771
|
|
NM_000179.3(MSH6):c.2530_2534del (p.Ile843_Met844insTer)
|
|
|
NM_000179.3(MSH6):c.2534_2538del (p.Met844_Tyr845insTer)
|
|
|
NM_000179.3(MSH6):c.2535dup (p.Glu846Ter)
|
rs587779241
|
|
NM_000179.3(MSH6):c.2536_2537insT (p.Glu846fs)
|
|
|
NM_000179.3(MSH6):c.2544dup (p.Thr849fs)
|
|
|
NM_000179.3(MSH6):c.2550C>A (p.Tyr850Ter)
|
rs374230313
|
|
NM_000179.3(MSH6):c.2550C>G (p.Tyr850Ter)
|
rs374230313
|
|
NM_000179.3(MSH6):c.255del (p.Thr86fs)
|
rs1064793183
|
|
NM_000179.3(MSH6):c.2574del (p.Leu859fs)
|
rs1669483230
|
|
NM_000179.3(MSH6):c.2577_2580del (p.Ser860fs)
|
|
|
NM_000179.3(MSH6):c.2580del (p.Ala861fs)
|
|
|
NM_000179.3(MSH6):c.2602del (p.Met868fs)
|
rs1572727797
|
|
NM_000179.3(MSH6):c.2607_2617del (p.Cys869fs)
|
|
|
NM_000179.3(MSH6):c.2608A>T (p.Lys870Ter)
|
|
|
NM_000179.3(MSH6):c.2610_2611dup (p.Ile871fs)
|
rs1669487701
|
|
NM_000179.3(MSH6):c.2611_2614dup (p.Ile872fs)
|
rs63750357
|
|
NM_000179.3(MSH6):c.2615_2616del (p.Ile872fs)
|
|
|
NM_000179.3(MSH6):c.2618_2619del (p.Gly873fs)
|
rs1114167749
|
|
NM_000179.3(MSH6):c.2622del (p.Met875fs)
|
|
|
NM_000179.3(MSH6):c.263dup (p.Cys88fs)
|
|
|
NM_000179.3(MSH6):c.2641_2642delinsA (p.Gly881fs)
|
|
|
NM_000179.3(MSH6):c.2642del (p.Gly881fs)
|
|
|
NM_000179.3(MSH6):c.2645_2653del (p.Phe882_Lys885delinsTer)
|
rs876660630
|
|
NM_000179.3(MSH6):c.2647A>T (p.Lys883Ter)
|
rs1669491751
|
|
NM_000179.3(MSH6):c.2653A>T (p.Lys885Ter)
|
rs587782593
|
|
NM_000179.3(MSH6):c.2665C>T (p.Gln889Ter)
|
rs1558666177
|
|
NM_000179.3(MSH6):c.2665dup (p.Gln889fs)
|
rs1553413985
|
|
NM_000179.3(MSH6):c.2675_2678del (p.Ser892fs)
|
|
|
NM_000179.3(MSH6):c.2677_2678del (p.Leu893fs)
|
rs1572728112
|
|
NM_000179.3(MSH6):c.2680C>T (p.Gln894Ter)
|
rs878853718
|
|
NM_000179.3(MSH6):c.2687_2690del (p.Lys896fs)
|
rs1553414010
|
|
NM_000179.3(MSH6):c.2690_2691insG (p.Asn897fs)
|
rs1669498074
|
|
NM_000179.3(MSH6):c.2690dup (p.Asn897fs)
|
rs1553414010
|
|
NM_000179.3(MSH6):c.2693del (p.Pro898fs)
|
rs1553414022
|
|
NM_000179.3(MSH6):c.2697_2698insT (p.Gly900fs)
|
|
|
NM_000179.3(MSH6):c.2714del (p.Asp904_Leu905insTer)
|
|
|
NM_000179.3(MSH6):c.2719_2720del (p.Val907fs)
|
rs63750904
|
|
NM_000179.3(MSH6):c.2728_2735del (p.Asn910fs)
|
|
|
NM_000179.3(MSH6):c.2735G>A (p.Trp912Ter)
|
rs1060502876
|
|
NM_000179.3(MSH6):c.2736G>A (p.Trp912Ter)
|
rs1572728472
|
|
NM_000179.3(MSH6):c.2738del (p.Asp913fs)
|
|
|
NM_000179.3(MSH6):c.2739_2740dup (p.Thr914fs)
|
rs1553414092
|
|
NM_000179.3(MSH6):c.2739_2742dup (p.Ala915fs)
|
|
|
NM_000179.3(MSH6):c.2749dup (p.Asp917fs)
|
rs1669506824
|
|
NM_000179.3(MSH6):c.2758A>T (p.Lys920Ter)
|
rs2104422674
|
|
NM_000179.3(MSH6):c.2759_2768dup (p.Thr924fs)
|
|
|
NM_000179.3(MSH6):c.2759del (p.Lys920fs)
|
rs1114167794
|
|
NM_000179.3(MSH6):c.2759dup (p.Ala921fs)
|
rs1114167794
|
|
NM_000179.3(MSH6):c.2764C>T (p.Arg922Ter)
|
rs587779246
|
|
NM_000179.3(MSH6):c.2767A>T (p.Lys923Ter)
|
|
|
NM_000179.3(MSH6):c.2768dup (p.Thr924fs)
|
rs267608063
|
|
NM_000179.3(MSH6):c.2772_2773del (p.Gly925fs)
|
rs1553414131
|
|
NM_000179.3(MSH6):c.2773G>T (p.Gly925Ter)
|
|
|
NM_000179.3(MSH6):c.2778dup (p.Ile927fs)
|
|
|
NM_000179.3(MSH6):c.2788A>T (p.Lys930Ter)
|
|
|
NM_000179.3(MSH6):c.2799dup (p.Asp934Ter)
|
rs2104424562
|
|
NM_000179.3(MSH6):c.2804_2805del (p.Asp934_Ser935insTer)
|
rs878853721
|
|
NM_000179.3(MSH6):c.2805_2806del (p.Asp936fs)
|
rs863225403
|
|
NM_000179.3(MSH6):c.2805dup (p.Asp936Ter)
|
rs876659189
|
|
NM_000179.3(MSH6):c.2811T>A (p.Tyr937Ter)
|
|
|
NM_000179.3(MSH6):c.2815C>T (p.Gln939Ter)
|
rs63750140
|
|
NM_000179.3(MSH6):c.2830del (p.Asp943_Ile944insTer)
|
|
|
NM_000179.3(MSH6):c.2831_2832del (p.Ile944fs)
|
|
|
NM_000179.3(MSH6):c.2831_2835del (p.Ile944fs)
|
|
|
NM_000179.3(MSH6):c.2832_2833del (p.Ile944fs)
|
rs730881827
|
|
NM_000179.3(MSH6):c.2834_2845delinsA (p.Arg945fs)
|
|
|
NM_000179.3(MSH6):c.2836_2837del (p.Glu946fs)
|
|
|
NM_000179.3(MSH6):c.2845C>T (p.Gln949Ter)
|
rs878853724
|
|
NM_000179.3(MSH6):c.2845_2846del (p.Gln949fs)
|
rs1572728922
|
|
NM_000179.3(MSH6):c.2848_2849del (p.Ser950fs)
|
rs869312770
|
|
NM_000179.3(MSH6):c.2851_2858del (p.Leu951fs)
|
rs63750940
|
|
NM_000179.3(MSH6):c.2862C>G (p.Tyr954Ter)
|
rs1064793671
|
|
NM_000179.3(MSH6):c.2863del (p.Tyr954_Leu955insTer)
|
rs1114167714
|
|
NM_000179.3(MSH6):c.2872C>T (p.Gln958Ter)
|
rs1553414236
|
|
NM_000179.3(MSH6):c.2872_2873dup (p.Gln958fs)
|
|
|
NM_000179.3(MSH6):c.2873del (p.Gln958fs)
|
rs1572729033
|
|
NM_000179.3(MSH6):c.2883_2886dup (p.Gly963fs)
|
|
|
NM_000179.3(MSH6):c.2897_2898dup (p.Ile967fs)
|
rs2104429347
|
|
NM_000179.3(MSH6):c.2906_2907del (p.Tyr969fs)
|
rs786203924
|
|
NM_000179.3(MSH6):c.2909G>A (p.Trp970Ter)
|
|
|
NM_000179.3(MSH6):c.290G>A (p.Trp97Ter)
|
|
|
NM_000179.3(MSH6):c.2910G>A (p.Trp970Ter)
|
rs765411990
|
|
NM_000179.3(MSH6):c.2913dup (p.Ile972fs)
|
rs1054003194
|
|
NM_000179.3(MSH6):c.2916dup (p.Gly973fs)
|
|
|
NM_000179.3(MSH6):c.2920del (p.Arg974fs)
|
rs1558667222
|
|
NM_000179.3(MSH6):c.2924_2927del (p.Asn975fs)
|
|
|
NM_000179.3(MSH6):c.2926_2929dup (p.Tyr977fs)
|
|
|
NM_000179.3(MSH6):c.2930dup (p.Tyr977Ter)
|
rs1669529094
|
|
NM_000179.3(MSH6):c.2931C>A (p.Tyr977Ter)
|
rs63750111
|
|
NM_000179.3(MSH6):c.2931C>G (p.Tyr977Ter)
|
rs63750111
|
|
NM_000179.3(MSH6):c.2932C>T (p.Gln978Ter)
|
rs587781372
|
|
NM_000179.3(MSH6):c.2938G>T (p.Glu980Ter)
|
rs2104431856
|
|
NM_000179.3(MSH6):c.2938del (p.Glu980fs)
|
rs2104431813
|
|
NM_000179.3(MSH6):c.2940_2941dup (p.Ile981fs)
|
|
|
NM_000179.3(MSH6):c.2943del (p.Pro982fs)
|
|
|
NM_000179.3(MSH6):c.2945del (p.Pro982fs)
|
rs587779250
|
|
NM_000179.3(MSH6):c.2955del (p.Phe985fs)
|
|
|
NM_000179.3(MSH6):c.2961dup (p.Arg988fs)
|
rs1669532554
|
|
NM_000179.3(MSH6):c.2964dup (p.Asn989fs)
|
rs587781659
|
|
NM_000179.3(MSH6):c.2982C>G (p.Tyr994Ter)
|
rs367758473
|
|
NM_000179.3(MSH6):c.2983G>T (p.Glu995Ter)
|
rs63750258
|
|
NM_000179.3(MSH6):c.2984del (p.Glu995fs)
|
rs63749938
|
|
NM_000179.3(MSH6):c.2988del (p.Lys997fs)
|
|
|
NM_000179.3(MSH6):c.2989A>T (p.Lys997Ter)
|
rs1064794943
|
|
NM_000179.3(MSH6):c.2991del (p.Lys997fs)
|
rs1060502890
|
|
NM_000179.3(MSH6):c.2993del (p.Ser998fs)
|
|
|
NM_000179.3(MSH6):c.2999del (p.Lys1000fs)
|
|
|
NM_000179.3(MSH6):c.3013C>T (p.Arg1005Ter)
|
rs63750563
|
|
NM_000179.3(MSH6):c.3018C>A (p.Tyr1006Ter)
|
rs1553414395
|
|
NM_000179.3(MSH6):c.3018C>G (p.Tyr1006Ter)
|
rs1553414395
|
|
NM_000179.3(MSH6):c.3018del (p.Trp1007fs)
|
rs1669539415
|
|
NM_000179.3(MSH6):c.3021G>A (p.Trp1007Ter)
|
rs587779253
|
|
NM_000179.3(MSH6):c.3021del (p.Tyr1006_Trp1007insTer)
|
rs587782862
|
|
NM_000179.3(MSH6):c.3028del (p.Thr1010fs)
|
rs1114167773
|
|
NM_000179.3(MSH6):c.302_305dup (p.Tyr103fs)
|
|
|
NM_000179.3(MSH6):c.3037_3041del (p.Lys1013fs)
|
rs587782712
|
|
NM_000179.3(MSH6):c.3038dup (p.Lys1014fs)
|
|
|
NM_000179.3(MSH6):c.3040A>T (p.Lys1014Ter)
|
|
|
NM_000179.3(MSH6):c.3053_3054del (p.Leu1018fs)
|
rs63751407
|
|
NM_000179.3(MSH6):c.3057_3060del (p.Ile1019fs)
|
|
|
NM_000179.3(MSH6):c.3059dup (p.Asn1020fs)
|
|
|
NM_000179.3(MSH6):c.3064G>T (p.Glu1022Ter)
|
rs1114167724
|
|
NM_000179.3(MSH6):c.3067G>T (p.Glu1023Ter)
|
rs267608059
|
|
NM_000179.3(MSH6):c.3080dup (p.Ser1028fs)
|
rs1572730021
|
|
NM_000179.3(MSH6):c.3083C>G (p.Ser1028Ter)
|
rs876660853
|
|
NM_000179.3(MSH6):c.3088A>T (p.Lys1030Ter)
|
rs1114167707
|
|
NM_000179.3(MSH6):c.3097_3100del (p.Met1033fs)
|
rs1553414498
|
|
NM_000179.3(MSH6):c.309C>A (p.Tyr103Ter)
|
rs1553410230
|
|
NM_000179.3(MSH6):c.3108_3109del (p.Phe1037fs)
|
rs1553414519
|
|
NM_000179.3(MSH6):c.3110_3111insA (p.Phe1037fs)
|
|
|
NM_000179.3(MSH6):c.3111del (p.Tyr1038fs)
|
|
|
NM_000179.3(MSH6):c.3119_3120del (p.Asn1039_Phe1040insTer)
|
rs267608042
|
|
NM_000179.3(MSH6):c.3128dup (p.Asn1043fs)
|
|
|
NM_000179.3(MSH6):c.3132C>A (p.Tyr1044Ter)
|
rs1669552731
|
|
NM_000179.3(MSH6):c.3132C>G (p.Tyr1044Ter)
|
rs1669552731
|
|
NM_000179.3(MSH6):c.3137_3138del (p.Asp1046fs)
|
rs1558668258
|
|
NM_000179.3(MSH6):c.3139del (p.Trp1047fs)
|
rs1114167782
|
|
NM_000179.3(MSH6):c.313del (p.Trp105fs)
|
rs1572708636
|
|
NM_000179.3(MSH6):c.3141G>A (p.Trp1047Ter)
|
rs1553414554
|
|
NM_000179.3(MSH6):c.3142C>T (p.Gln1048Ter)
|
rs200492211
|
|
NM_000179.3(MSH6):c.3147_3150dup (p.Val1051fs)
|
|
|
NM_000179.3(MSH6):c.3151_3152dup (p.Val1051_Glu1052insTer)
|
rs1175196087
|
|
NM_000179.3(MSH6):c.3155_3156del (p.Glu1052fs)
|
rs63750833
|
|
NM_000179.3(MSH6):c.3159dup (p.Ile1054fs)
|
rs1553414578
|
|
NM_000179.3(MSH6):c.3163dup (p.Ala1055fs)
|
rs878853729
|
|
NM_000179.3(MSH6):c.3170T>A (p.Leu1057Ter)
|
rs778741297
|
|
NM_000179.3(MSH6):c.3189_3192dup (p.Asn1065delinsGlyTer)
|
|
|
NM_000179.3(MSH6):c.3190_3192delinsCC (p.Ala1064fs)
|
|
|
NM_000179.3(MSH6):c.3190_3224dup (p.Cys1075fs)
|
|
|
NM_000179.3(MSH6):c.3198T>G (p.Tyr1066Ter)
|
|
|
NM_000179.3(MSH6):c.3198_3199del (p.Tyr1066_Ser1067delinsTer)
|
rs63749821
|
|
NM_000179.3(MSH6):c.3198_3199dup (p.Ser1067fs)
|
rs63749821
|
|
NM_000179.3(MSH6):c.3209del (p.Gly1070fs)
|
rs1315445200
|
|
NM_000179.3(MSH6):c.3209dup (p.Gly1070_Asp1071insTer)
|
rs1315445200
|
|
NM_000179.3(MSH6):c.3215_3222del (p.Gly1072fs)
|
rs1057517552
|
|
NM_000179.3(MSH6):c.3219dup (p.Met1074fs)
|
|
|
NM_000179.3(MSH6):c.3220_3221del (p.Met1074fs)
|
rs1553331290
|
|
NM_000179.3(MSH6):c.3223dup (p.Cys1075fs)
|
rs1572735072
|
|
NM_000179.3(MSH6):c.3226dup (p.Arg1076fs)
|
rs1553331304
|
|
NM_000179.3(MSH6):c.3238_3239del (p.Leu1080fs)
|
rs863225406
|
|
NM_000179.3(MSH6):c.3238del (p.Leu1080fs)
|
rs1553331337
|
|
NM_000179.3(MSH6):c.3247G>T (p.Glu1083Ter)
|
rs763844573
|
|
NM_000179.3(MSH6):c.3252dup (p.Thr1085fs)
|
rs1553331366
|
|
NM_000179.3(MSH6):c.3253del (p.Thr1085fs)
|
rs1060502891
|
|
NM_000179.3(MSH6):c.3253dup (p.Thr1085fs)
|
rs1114167705
|
|
NM_000179.3(MSH6):c.3255_3256delinsA (p.Phe1088fs)
|
|
|
NM_000179.3(MSH6):c.3260_3261del (p.Pro1087fs)
|
|
|
NM_000179.3(MSH6):c.3260_3261dup (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3260_3261insT (p.Phe1088fs)
|
|
|
NM_000179.3(MSH6):c.3261del (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3261dup (p.Phe1088fs)
|
rs267608078
|
|
NM_000179.3(MSH6):c.3263del (p.Phe1088fs)
|
|
|
NM_000179.3(MSH6):c.3266T>G (p.Leu1089Ter)
|
rs1669748364
|
|
NM_000179.3(MSH6):c.3268_3274del (p.Glu1090fs)
|
rs587779259
|
|
NM_000179.3(MSH6):c.3276del (p.Gly1093fs)
|
|
|
NM_000179.3(MSH6):c.3276dup (p.Gly1093fs)
|
rs1558387361
|
|
NM_000179.3(MSH6):c.3277G>T (p.Gly1093Ter)
|
|
|
NM_000179.3(MSH6):c.3294C>A (p.Cys1098Ter)
|
|
|
NM_000179.3(MSH6):c.3301_3302del (p.Lys1101fs)
|
|
|
NM_000179.3(MSH6):c.3305_3306insA (p.Gly1105fs)
|
|
|
NM_000179.3(MSH6):c.3306_3307delinsA (p.Phe1104fs)
|
|
|
NM_000179.3(MSH6):c.3311_3312del (p.Phe1104fs)
|
rs267608092
|
|
NM_000179.3(MSH6):c.3312del (p.Phe1104fs)
|
rs267608092
|
|
NM_000179.3(MSH6):c.3312dup (p.Gly1105fs)
|
rs267608092
|
|
NM_000179.3(MSH6):c.3313_3344del (p.Gly1105fs)
|
|
|
NM_000179.3(MSH6):c.331del (p.Tyr111fs)
|
|
|
NM_000179.3(MSH6):c.3329del (p.Pro1110fs)
|
|
|
NM_000179.3(MSH6):c.3332_3335dup (p.Asp1112delinsGluTer)
|
rs587782562
|
|
NM_000179.3(MSH6):c.333C>G (p.Tyr111Ter)
|
rs786202772
|
|
NM_000179.3(MSH6):c.3351_3352del (p.Cys1117_Glu1118delinsTer)
|
|
|
NM_000179.3(MSH6):c.3355del (p.Glu1119fs)
|
|
|
NM_000179.3(MSH6):c.3356_3358delinsGAT (p.Glu1119_Glu1120delinsGlyTer)
|
rs1114167695
|
|
NM_000179.3(MSH6):c.3358G>T (p.Glu1120Ter)
|
rs1114167793
|
|
NM_000179.3(MSH6):c.3361G>T (p.Glu1121Ter)
|
rs587781609
|
|
NM_000179.3(MSH6):c.3365_3366insTT (p.Gln1122fs)
|
|
|
NM_000179.3(MSH6):c.3367G>T (p.Glu1123Ter)
|
rs267608086
|
|
NM_000179.3(MSH6):c.3371dup (p.Asn1124fs)
|
rs1553331659
|
|
NM_000179.3(MSH6):c.3378del (p.Ala1127fs)
|
|
|
NM_000179.3(MSH6):c.3379_3438+5del
|
rs1553331676
|
|
NM_000179.3(MSH6):c.3383_3384dup (p.Cys1129fs)
|
rs1572735943
|
|
NM_000179.3(MSH6):c.3386del (p.Cys1129fs)
|
|
|
NM_000179.3(MSH6):c.3399_3403del (p.Gly1134fs)
|
rs1669770252
|
|
NM_000179.3(MSH6):c.3399delinsGTA (p.Thr1133_Gly1134insTer)
|
|
|
NM_000179.3(MSH6):c.3403_3407del (p.Pro1135fs)
|
|
|
NM_000179.3(MSH6):c.3404dup (p.Asn1136fs)
|
|
|
NM_000179.3(MSH6):c.3416del (p.Gly1139fs)
|
rs587781544
|
|
NM_000179.3(MSH6):c.3416dup (p.Lys1140fs)
|
rs587781544
|
|
NM_000179.3(MSH6):c.3417del (p.Lys1140fs)
|
rs1572736122
|
|
NM_000179.3(MSH6):c.3433A>T (p.Arg1145Ter)
|
|
|
NM_000179.3(MSH6):c.3436C>T (p.Gln1146Ter)
|
rs63750356
|
|
NM_000179.3(MSH6):c.3439-1G>T
|
rs587779263
|
|
NM_000179.3(MSH6):c.3439-2A>G
|
rs267608098
|
|
NM_000179.3(MSH6):c.3439-2A>T
|
rs267608098
|
|
NM_000179.3(MSH6):c.3446T>A (p.Leu1149Ter)
|
|
|
NM_000179.3(MSH6):c.3449T>A (p.Leu1150Ter)
|
rs1057517763
|
|
NM_000179.3(MSH6):c.3450dup (p.Ala1151fs)
|
rs2104504315
|
|
NM_000179.3(MSH6):c.345del (p.Phe115fs)
|
|
|
NM_000179.3(MSH6):c.3463C>T (p.Gln1155Ter)
|
rs1553332166
|
|
NM_000179.3(MSH6):c.3475del (p.Tyr1159fs)
|
rs1572738533
|
|
NM_000179.3(MSH6):c.3476dup (p.Tyr1159Ter)
|
rs587782111
|
|
NM_000179.3(MSH6):c.3477C>A (p.Tyr1159Ter)
|
rs398123231
|
|
NM_000179.3(MSH6):c.3477C>G (p.Tyr1159Ter)
|
rs398123231
|
|
NM_000179.3(MSH6):c.3477del (p.Cys1158_Tyr1159insTer)
|
rs1114167767
|
|
NM_000179.3(MSH6):c.3482CTG[1] (p.Ala1162del)
|
rs63751427
|
|
NM_000179.3(MSH6):c.3483_3502del (p.Ala1162fs)
|
|
|
NM_000179.3(MSH6):c.3486dup (p.Glu1163Ter)
|
|
|
NM_000179.3(MSH6):c.3487del (p.Glu1163fs)
|
|
|
NM_000179.3(MSH6):c.3491dup (p.Cys1165fs)
|
rs876661073
|
|
NM_000179.3(MSH6):c.3506_3524del (p.Pro1169fs)
|
rs2104507417
|
|
NM_000179.3(MSH6):c.350_353dup (p.Phe119fs)
|
rs1473648816
|
|
NM_000179.3(MSH6):c.3510_3513del (p.Asp1171fs)
|
rs2104507637
|
|
NM_000179.3(MSH6):c.3510_3513dup (p.Arg1172Ter)
|
rs2104507637
|
|
NM_000179.3(MSH6):c.3511_3512del (p.Ile1170_Asp1171insTer)
|
rs63751410
|
|
NM_000179.3(MSH6):c.3513_3514del (p.Asp1171fs)
|
rs63750194
|
|
NM_000179.3(MSH6):c.3513_3523del (p.Asp1171_Arg1172insTer)
|
rs1324100572
|
|
NM_000179.3(MSH6):c.3515_3516insTGTTTACTAGACAG (p.Arg1172delinsSerValTyrTer)
|
|
|
NM_000179.3(MSH6):c.3516_3517del (p.Arg1172fs)
|
rs398123232
|
|
NM_000179.3(MSH6):c.3516_3517dup (p.Val1173fs)
|
|
|
NM_000179.3(MSH6):c.3518_3519insA (p.Phe1174fs)
|
|
|
NM_000179.3(MSH6):c.3519_3520del (p.Phe1174fs)
|
|
|
NM_000179.3(MSH6):c.3519_3522dup (p.Thr1175fs)
|
rs267608101
|
|
NM_000179.3(MSH6):c.3522_3524delinsAT (p.Phe1174fs)
|
rs1572738865
|
|
NM_000179.3(MSH6):c.3523del (p.Thr1175fs)
|
|
|
NM_000179.3(MSH6):c.3526A>T (p.Arg1176Ter)
|
rs786203968
|
|
NM_000179.3(MSH6):c.3528_3532del (p.Leu1177fs)
|
rs863225408
|
|
NM_000179.3(MSH6):c.3539C>G (p.Ser1180Ter)
|
rs766905993
|
|
NM_000179.3(MSH6):c.3543_3546del (p.Asp1181fs)
|
rs1553332297
|
|
NM_000179.3(MSH6):c.3545_3546del (p.Arg1182fs)
|
|
|
NM_000179.3(MSH6):c.3554C>A (p.Ser1185Ter)
|
|
|
NM_000179.3(MSH6):c.3554C>G (p.Ser1185Ter)
|
rs1572739043
|
|
NM_000179.3(MSH6):c.3555_3556del (p.Ser1185_Gly1186insTer)
|
rs1553332312
|
|
NM_000179.3(MSH6):c.3561_3565dup (p.Thr1189fs)
|
rs891318615
|
|
NM_000179.3(MSH6):c.3562_3565dup (p.Thr1189fs)
|
rs786203331
|
|
NM_000179.3(MSH6):c.356del (p.Phe119fs)
|
|
|
NM_000179.3(MSH6):c.356dup (p.Ile120fs)
|
rs1114167776
|
|
NM_000179.3(MSH6):c.3573del (p.Phe1191fs)
|
|
|
NM_000179.3(MSH6):c.3573dup (p.Val1192fs)
|
rs1057517764
|
|
NM_000179.3(MSH6):c.3574del (p.Val1192fs)
|
rs1553332671
|
|
NM_000179.3(MSH6):c.3577G>A (p.Glu1193Lys)
|
rs63751328
|
|
NM_000179.3(MSH6):c.3577G>T (p.Glu1193Ter)
|
|
|
NM_000179.3(MSH6):c.3577_3580dup (p.Leu1194Ter)
|
rs773262801
|
|
NM_000179.3(MSH6):c.3577_3581del (p.Glu1193fs)
|
rs1060502881
|
|
NM_000179.3(MSH6):c.3577del (p.Glu1193fs)
|
rs1114167755
|
|
NM_000179.3(MSH6):c.3581T>A (p.Leu1194Ter)
|
|
|
NM_000179.3(MSH6):c.3586G>T (p.Glu1196Ter)
|
rs75095286
|
|
NM_000179.3(MSH6):c.3587_3627dup (p.Val1210fs)
|
|
|
NM_000179.3(MSH6):c.3600_3601del (p.Leu1201fs)
|
|
|
NM_000179.3(MSH6):c.3601_3620del (p.Leu1201fs)
|
|
|
NM_000179.3(MSH6):c.3602_3614del (p.Leu1201fs)
|
|
|
NM_000179.3(MSH6):c.3602_3614delinsACA (p.Leu1201fs)
|
|
|
NM_000179.3(MSH6):c.3609_3612del (p.His1203fs)
|
rs587779274
|
|
NM_000179.3(MSH6):c.3609del (p.His1203fs)
|
rs2104524646
|
|
NM_000179.3(MSH6):c.3615dup (p.Ala1206fs)
|
rs2104525000
|
|
NM_000179.3(MSH6):c.3619_3620del (p.His1207fs)
|
rs1572741984
|
|
NM_000179.3(MSH6):c.3622del (p.Ser1208fs)
|
|
|
NM_000179.3(MSH6):c.3622dup (p.Ser1208fs)
|
rs1553332733
|
|
NM_000179.3(MSH6):c.3626_3627del (p.Leu1209fs)
|
rs863225409
|
|
NM_000179.3(MSH6):c.362del (p.Arg121fs)
|
|
|
NM_000179.3(MSH6):c.3633_3646dup (p.Gly1216delinsValTrpMetAsnTer)
|
rs1572742114
|
|
NM_000179.3(MSH6):c.3633dup (p.Val1212fs)
|
rs587776706
|
|
NM_000179.3(MSH6):c.3640G>T (p.Glu1214Ter)
|
|
|
NM_000179.3(MSH6):c.3645_3646dup (p.Gly1216fs)
|
|
|
NM_000179.3(MSH6):c.3651_3652dup (p.Gly1218fs)
|
rs1670039388
|
|
NM_000179.3(MSH6):c.3657dup (p.Ala1220fs)
|
|
|
NM_000179.3(MSH6):c.3683dup (p.Asn1229fs)
|
|
|
NM_000179.3(MSH6):c.3694_3695dup (p.Lys1233fs)
|
|
|
NM_000179.3(MSH6):c.3696_3717dup (p.Lys1240Ter)
|
|
|
NM_000179.3(MSH6):c.3696dup (p.Lys1233Ter)
|
rs1553333017
|
|
NM_000179.3(MSH6):c.3698_3699dup (p.Glu1234fs)
|
|
|
NM_000179.3(MSH6):c.3699_3702del (p.Lys1233fs)
|
rs193922343
|
|
NM_000179.3(MSH6):c.3699_3702dup (p.Leu1235fs)
|
rs193922343
|
|
NM_000179.3(MSH6):c.3699del (p.Glu1234fs)
|
rs1558392033
|
|
NM_000179.3(MSH6):c.369del (p.Lys125fs)
|
|
|
NM_000179.3(MSH6):c.3701_3702insT (p.Glu1234fs)
|
|
|
NM_000179.3(MSH6):c.3705_3717dup (p.Lys1240delinsCysTer)
|
|
|
NM_000179.3(MSH6):c.3706dup (p.Ala1236fs)
|
|
|
NM_000179.3(MSH6):c.3716_3717del (p.Ile1239fs)
|
rs1064794384
|
|
NM_000179.3(MSH6):c.3725_3737del (p.Arg1242fs)
|
rs587779287
|
|
NM_000179.3(MSH6):c.3726dup (p.Thr1243fs)
|
|
|
NM_000179.3(MSH6):c.3728del (p.Thr1243fs)
|
|
|
NM_000179.3(MSH6):c.3729_3732dup (p.Phe1245fs)
|
rs587779288
|
|
NM_000179.3(MSH6):c.3731T>A (p.Leu1244Ter)
|
|
|
NM_000179.3(MSH6):c.3732_3735dup (p.Ser1246fs)
|
rs1553333072
|
|
NM_000179.3(MSH6):c.3732_3736dup (p.Ser1246fs)
|
|
|
NM_000179.3(MSH6):c.3733_3739dup (p.Thr1247fs)
|
rs1670054668
|
|
NM_000179.3(MSH6):c.3735_3769del (p.Thr1247fs)
|
rs1558392228
|
|
NM_000179.3(MSH6):c.3736_3760dup (p.Glu1254fs)
|
|
|
NM_000179.3(MSH6):c.3736del (p.Ser1246fs)
|
|
|
NM_000179.3(MSH6):c.373A>T (p.Lys125Ter)
|
|
|
NM_000179.3(MSH6):c.3742_3745dup (p.Tyr1249fs)
|
rs1558392265
|
|
NM_000179.3(MSH6):c.3743_3744del (p.His1248fs)
|
|
|
NM_000179.3(MSH6):c.3743_3744insT (p.Tyr1249fs)
|
rs786201084
|
|
NM_000179.3(MSH6):c.3746_3749dup (p.His1250fs)
|
rs587779936
|
|
NM_000179.3(MSH6):c.3752C>A (p.Ser1251Ter)
|
|
|
NM_000179.3(MSH6):c.3753_3756dup (p.Val1253fs)
|
rs876661222
|
|
NM_000179.3(MSH6):c.3760G>T (p.Glu1254Ter)
|
|
|
NM_000179.3(MSH6):c.3763_3767dup (p.Tyr1256Ter)
|
|
|
NM_000179.3(MSH6):c.3768T>G (p.Tyr1256Ter)
|
rs63751058
|
|
NM_000179.3(MSH6):c.3775_3776del (p.Asn1259fs)
|
rs1572745157
|
|
NM_000179.3(MSH6):c.377C>G (p.Ser126Ter)
|
rs1114167689
|
|
NM_000179.3(MSH6):c.3788dup (p.Leu1264fs)
|
|
|
NM_000179.3(MSH6):c.3792del (p.Gly1265fs)
|
rs1553333164
|
|
NM_000179.3(MSH6):c.3793G>T (p.Gly1265Ter)
|
rs754469538
|
|
NM_000179.3(MSH6):c.3794del (p.Gly1265fs)
|
|
|
NM_000179.3(MSH6):c.3798_3801dup (p.Ala1268fs)
|
|
|
NM_000179.3(MSH6):c.3799_3800del (p.Met1267fs)
|
rs267608114
|
|
NM_000179.3(MSH6):c.37A>T (p.Lys13Ter)
|
rs942019524
|
|
NM_000179.3(MSH6):c.3804dup (p.Cys1269fs)
|
rs267608118
|
|
NM_000179.3(MSH6):c.3812dup (p.Glu1272fs)
|
|
|
NM_000179.3(MSH6):c.3814_3827dup (p.Asp1277fs)
|
rs1558393070
|
|
NM_000179.3(MSH6):c.3818dup (p.Asn1273fs)
|
rs1553333321
|
|
NM_000179.3(MSH6):c.3822dup (p.Cys1275fs)
|
rs1553333346
|
|
NM_000179.3(MSH6):c.3826G>T (p.Glu1276Ter)
|
|
|
NM_000179.3(MSH6):c.3832_3838dup (p.Gln1280fs)
|
rs1572746382
|
|
NM_000179.3(MSH6):c.3834dup (p.Ser1279fs)
|
|
|
NM_000179.3(MSH6):c.3838C>T (p.Gln1280Ter)
|
rs63750139
|
|
NM_000179.3(MSH6):c.3839dup (p.Glu1281fs)
|
rs1572746488
|
|
NM_000179.3(MSH6):c.3840_3846del (p.Glu1281fs)
|
rs63751319
|
|
NM_000179.3(MSH6):c.3841_3847dup (p.Ile1283fs)
|
rs1114167720
|
|
NM_000179.3(MSH6):c.3843_3847dup (p.Ile1283fs)
|
|
|
NM_000179.3(MSH6):c.3846dup (p.Ile1283fs)
|
rs866771359
|
|
NM_000179.3(MSH6):c.3847_3848del (p.Ile1283fs)
|
|
|
NM_000179.3(MSH6):c.3847_3850dup (p.Thr1284fs)
|
rs267608128
|
|
NM_000179.3(MSH6):c.3848_3851del (p.Ile1283fs)
|
|
|
NM_000179.3(MSH6):c.3849_3850del (p.Thr1284fs)
|
|
|
NM_000179.3(MSH6):c.3849del (p.Thr1284fs)
|
rs1064793781
|
|
NM_000179.3(MSH6):c.3850_3853dup (p.Phe1285fs)
|
|
|
NM_000179.3(MSH6):c.3850dup (p.Thr1284fs)
|
rs1553333421
|
|
NM_000179.3(MSH6):c.3851_3852insA (p.Phe1285fs)
|
|
|
NM_000179.3(MSH6):c.3851_3860del (p.Thr1284fs)
|
|
|
NM_000179.3(MSH6):c.3854_3861del (p.Thr1284_Phe1285insTer)
|
rs1553333449
|
|
NM_000179.3(MSH6):c.3856_3859del (p.Leu1286fs)
|
rs2104555974
|
|
NM_000179.3(MSH6):c.3859_3862dup (p.Lys1288delinsIleTer)
|
|
|
NM_000179.3(MSH6):c.3861T>A (p.Tyr1287Ter)
|
|
|
NM_000179.3(MSH6):c.3861T>G (p.Tyr1287Ter)
|
rs1060504739
|
|
NM_000179.3(MSH6):c.3862_3864delinsTACG (p.Lys1288fs)
|
|
|
NM_000179.3(MSH6):c.3863_3864del (p.Lys1288fs)
|
|
|
NM_000179.3(MSH6):c.3863_3866dup (p.Phe1289fs)
|
rs863225416
|
|
NM_000179.3(MSH6):c.3863_3876del (p.Lys1288fs)
|
|
|
NM_000179.3(MSH6):c.3864dup (p.Phe1289fs)
|
rs878853739
|
|
NM_000179.3(MSH6):c.3867_3870dup (p.Lys1291delinsHisTer)
|
|
|
NM_000179.3(MSH6):c.3869_3870del (p.Ile1290fs)
|
|
|
NM_000179.3(MSH6):c.3870_3871del (p.Lys1291fs)
|
|
|
NM_000179.3(MSH6):c.3878_3881dup (p.Pro1295fs)
|
rs1553333500
|
|
NM_000179.3(MSH6):c.3880_3892del (p.Cys1294fs)
|
rs1553333497
|
|
NM_000179.3(MSH6):c.3882del (p.Pro1295fs)
|
rs876658817
|
|
NM_000179.3(MSH6):c.3889_3891delinsGG (p.Ser1297fs)
|
|
|
NM_000179.3(MSH6):c.3889dup (p.Ser1297fs)
|
rs2104558375
|
|
NM_000179.3(MSH6):c.3891_3928dup (p.Glu1310fs)
|
rs1572746998
|
|
NM_000179.3(MSH6):c.3894T>A (p.Tyr1298Ter)
|
|
|
NM_000179.3(MSH6):c.3895_3935dup (p.Ile1313fs)
|
|
|
NM_000179.3(MSH6):c.3897_3931dup (p.Glu1311fs)
|
rs1064793895
|
|
NM_000179.3(MSH6):c.3900_3945dup (p.Gly1316Ter)
|
rs1558393814
|
|
NM_000179.3(MSH6):c.3901_3902insG (p.Asn1301fs)
|
|
|
NM_000179.3(MSH6):c.3915_3916insA (p.Ala1306fs)
|
|
|
NM_000179.3(MSH6):c.3920_3923dup (p.Pro1309fs)
|
rs1572747278
|
|
NM_000179.3(MSH6):c.3920_3927dup (p.Glu1310fs)
|
rs587779295
|
|
NM_000179.3(MSH6):c.3920del (p.Asn1307fs)
|
rs1114167760
|
|
NM_000179.3(MSH6):c.3922_3938dup (p.Gln1314fs)
|
rs1670123011
|
|
NM_000179.3(MSH6):c.3922_3940dup (p.Gln1314fs)
|
rs1553333598
|
|
NM_000179.3(MSH6):c.3926_3927insGAGA (p.Glu1310fs)
|
rs1553333605
|
|
NM_000179.3(MSH6):c.3926del (p.Pro1309fs)
|
|
|
NM_000179.3(MSH6):c.3927_3939dup (p.Gln1314fs)
|
|
|
NM_000179.3(MSH6):c.3927_3957dup (p.Ala1320delinsArgGlySerTyrSerLysGlyThrTer)
|
rs1553333615
|
|
NM_000179.3(MSH6):c.3929_3938del (p.Glu1310fs)
|
|
|
NM_000179.3(MSH6):c.3931del (p.Glu1311fs)
|
rs1558394093
|
|
NM_000179.3(MSH6):c.3932_3933del (p.Glu1311fs)
|
|
|
NM_000179.3(MSH6):c.3932_3933dup (p.Val1312fs)
|
|
|
NM_000179.3(MSH6):c.3932_3935dup (p.Ile1313fs)
|
rs267608127
|
|
NM_000179.3(MSH6):c.3934_3937dup (p.Ile1313fs)
|
rs760190301
|
|
NM_000179.3(MSH6):c.3936_3951del (p.Ile1313fs)
|
rs1553333635
|
|
NM_000179.3(MSH6):c.3936dup (p.Ile1313fs)
|
|
|
NM_000179.3(MSH6):c.3937_3938del (p.Ile1313fs)
|
|
|
NM_000179.3(MSH6):c.3938_3941dup (p.Gln1314fs)
|
rs267608126
|
|
NM_000179.3(MSH6):c.3939_3940dup (p.Gln1314fs)
|
rs730881830
|
|
NM_000179.3(MSH6):c.3939dup (p.Gln1314fs)
|
rs1553333633
|
|
NM_000179.3(MSH6):c.3940C>T (p.Gln1314Ter)
|
rs1416452389
|
|
NM_000179.3(MSH6):c.3946_3953del (p.Gly1316fs)
|
|
|
NM_000179.3(MSH6):c.3946_3958del (p.Gly1316fs)
|
rs1553333674
|
|
NM_000179.3(MSH6):c.3946_3958dup (p.Ala1320delinsGlyThrTer)
|
rs1553333674
|
|
NM_000179.3(MSH6):c.3947_3951dup (p.Arg1318fs)
|
|
|
NM_000179.3(MSH6):c.3949_3950del (p.Gly1316_His1317insTer)
|
|
|
NM_000179.3(MSH6):c.394_395del (p.Gln132fs)
|
rs1668698146
|
|
NM_000179.3(MSH6):c.3951_3952del (p.His1317fs)
|
rs1114167790
|
|
NM_000179.3(MSH6):c.3951_3960del (p.His1317fs)
|
rs1553333682
|
|
NM_000179.3(MSH6):c.3951dup (p.Arg1318Ter)
|
rs1553333690
|
|
NM_000179.3(MSH6):c.3952A>T (p.Arg1318Ter)
|
rs1572747685
|
|
NM_000179.3(MSH6):c.3954_3957dup (p.Ala1320fs)
|
|
|
NM_000179.3(MSH6):c.3956_3957dup (p.Ala1320fs)
|
rs587779297
|
|
NM_000179.3(MSH6):c.3956_3974del (p.Lys1319fs)
|
rs1558394336
|
|
NM_000179.3(MSH6):c.3957del (p.Ala1320fs)
|
rs587779297
|
|
NM_000179.3(MSH6):c.3957dup (p.Ala1320fs)
|
rs587779297
|
|
NM_000179.3(MSH6):c.3959_3962del (p.Ala1320fs)
|
rs267608120
|
|
NM_000179.3(MSH6):c.3959_3962dup (p.Arg1321fs)
|
|
|
NM_000179.3(MSH6):c.3959dup (p.Arg1321fs)
|
|
|
NM_000179.3(MSH6):c.3960_3963dup (p.Glu1322fs)
|
rs1553333700
|
|
NM_000179.3(MSH6):c.3962_3965dup (p.Phe1323fs)
|
rs1670140478
|
|
NM_000179.3(MSH6):c.3962_3966dup (p.Phe1323fs)
|
|
|
NM_000179.3(MSH6):c.3964G>T (p.Glu1322Ter)
|
rs1553333707
|
|
NM_000179.3(MSH6):c.3966_3987dup (p.Leu1330delinsIleTer)
|
|
|
NM_000179.3(MSH6):c.3966dup (p.Phe1323fs)
|
rs886044911
|
|
NM_000179.3(MSH6):c.397_410del (p.Phe133fs)
|
rs786202193
|
|
NM_000179.3(MSH6):c.3980_3983dup (p.Leu1330fs)
|
rs1553333738
|
|
NM_000179.3(MSH6):c.3980dup (p.Asn1327fs)
|
rs587782326
|
|
NM_000179.3(MSH6):c.3982C>T (p.Gln1328Ter)
|
rs2104567084
|
|
NM_000179.3(MSH6):c.3984_3987dup (p.Leu1330fs)
|
rs267608121
|
|
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter)
|
rs267608094
|
|
NM_000179.3(MSH6):c.3996_3999dup (p.Arg1334fs)
|
rs1553333753
|
|
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln)
|
rs267608122
|
|
NM_000179.3(MSH6):c.402del (p.Phe134fs)
|
|
|
NM_000179.3(MSH6):c.402dup (p.Asp135Ter)
|
rs1057524912
|
|
NM_000179.3(MSH6):c.418dup (p.Arg140fs)
|
|
|
NM_000179.3(MSH6):c.422del (p.Gly141fs)
|
rs1553410342
|
|
NM_000179.3(MSH6):c.423del (p.Trp142fs)
|
rs1114167728
|
|
NM_000179.3(MSH6):c.426G>A (p.Trp142Ter)
|
rs63750342
|
|
NM_000179.3(MSH6):c.433A>T (p.Lys145Ter)
|
|
|
NM_000179.3(MSH6):c.442_443del (p.Leu148fs)
|
rs1060502875
|
|
NM_000179.3(MSH6):c.443T>G (p.Leu148Ter)
|
|
|
NM_000179.3(MSH6):c.461C>A (p.Ser154Ter)
|
|
|
NM_000179.3(MSH6):c.461C>G (p.Ser154Ter)
|
rs1553411391
|
|
NM_000179.3(MSH6):c.468_471del (p.Glu158fs)
|
rs587779941
|
|
NM_000179.3(MSH6):c.469_470dup (p.Glu158fs)
|
rs1553411392
|
|
NM_000179.3(MSH6):c.470dup (p.Glu158fs)
|
rs1553411392
|
|
NM_000179.3(MSH6):c.472G>T (p.Glu158Ter)
|
|
|
NM_000179.3(MSH6):c.478C>T (p.Gln160Ter)
|
rs1114167692
|
|
NM_000179.3(MSH6):c.485dup (p.Gly163fs)
|
|
|
NM_000179.3(MSH6):c.496del (p.Tyr166fs)
|
rs1553411409
|
|
NM_000179.3(MSH6):c.496dup (p.Tyr166fs)
|
rs1553411409
|
|
NM_000179.3(MSH6):c.506dup (p.Pro170fs)
|
|
|
NM_000179.3(MSH6):c.522_523del (p.Arg174fs)
|
rs267608037
|
|
NM_000179.3(MSH6):c.533dup (p.Ala179fs)
|
|
|
NM_000179.3(MSH6):c.552_555del (p.Asn184fs)
|
rs1023534466
|
|
NM_000179.3(MSH6):c.578del (p.Leu193fs)
|
rs587782281
|
|
NM_000179.3(MSH6):c.588_589del (p.Cys196_Asp197delinsTer)
|
|
|
NM_000179.3(MSH6):c.58dup (p.Ala20fs)
|
rs1553408136
|
|
NM_000179.3(MSH6):c.599C>G (p.Ser200Ter)
|
rs63751077
|
|
NM_000179.3(MSH6):c.602_603del (p.Glu201fs)
|
rs587779945
|
|
NM_000179.3(MSH6):c.642C>G (p.Tyr214Ter)
|
rs1800937
|
|
NM_000179.3(MSH6):c.642del (p.Thr213_Tyr214insTer)
|
rs2104288054
|
|
NM_000179.3(MSH6):c.644dup (p.Thr216fs)
|
rs1572719776
|
|
NM_000179.3(MSH6):c.648_650delinsC (p.Thr216_Asp217insTer)
|
|
|
NM_000179.3(MSH6):c.651_655del (p.Asp217fs)
|
rs1669240720
|
|
NM_000179.3(MSH6):c.652_653del (p.Lys218fs)
|
|
|
NM_000179.3(MSH6):c.663_667delinsTAC (p.Glu221fs)
|
rs1553412090
|
|
NM_000179.3(MSH6):c.664_671dup (p.Glu226fs)
|
|
|
NM_000179.3(MSH6):c.666_667del (p.Asp222fs)
|
|
|
NM_000179.3(MSH6):c.676G>T (p.Glu226Ter)
|
|
|
NM_000179.3(MSH6):c.677dup (p.Ser227fs)
|
|
|
NM_000179.3(MSH6):c.679_680del (p.Glu226_Ser227insTer)
|
|
|
NM_000179.3(MSH6):c.685G>T (p.Glu229Ter)
|
|
|
NM_000179.3(MSH6):c.688del (p.Glu230fs)
|
rs1669245178
|
|
NM_000179.3(MSH6):c.693dup (p.Gln232fs)
|
|
|
NM_000179.3(MSH6):c.694C>T (p.Gln232Ter)
|
rs587779318
|
|
NM_000179.3(MSH6):c.698dup (p.Pro233_Lys234insTer)
|
rs1553412120
|
|
NM_000179.3(MSH6):c.699_702dup (p.Thr235Ter)
|
|
|
NM_000179.3(MSH6):c.6_7delinsCT (p.Arg3Ter)
|
rs1558644683
|
|
NM_000179.3(MSH6):c.702_703insT (p.Thr235fs)
|
rs730881826
|
|
NM_000179.3(MSH6):c.702dup (p.Thr235fs)
|
|
|
NM_000179.3(MSH6):c.703dup (p.Thr235fs)
|
|
|
NM_000179.3(MSH6):c.706_707del (p.Gln236fs)
|
rs1553412129
|
|
NM_000179.3(MSH6):c.706del (p.Gln236fs)
|
|
|
NM_000179.3(MSH6):c.718C>T (p.Arg240Ter)
|
rs63750019
|
|
NM_000179.3(MSH6):c.730C>T (p.Gln244Ter)
|
rs267608066
|
|
NM_000179.3(MSH6):c.738_741del (p.Lys246fs)
|
rs267608041
|
|
NM_000179.3(MSH6):c.741del (p.Lys247fs)
|
rs267608041
|
|
NM_000179.3(MSH6):c.741dup (p.Arg248fs)
|
rs267608041
|
|
NM_000179.3(MSH6):c.742C>T (p.Arg248Ter)
|
rs63749980
|
|
NM_000179.3(MSH6):c.742dup (p.Arg248fs)
|
rs1572720192
|
|
NM_000179.3(MSH6):c.745del (p.Arg249fs)
|
|
|
NM_000179.3(MSH6):c.748del (p.Val250fs)
|
|
|
NM_000179.3(MSH6):c.755C>G (p.Ser252Ter)
|
rs267608048
|
|
NM_000179.3(MSH6):c.757_758del (p.Asp253fs)
|
rs1669252923
|
|
NM_000179.3(MSH6):c.762_763del (p.Glu255_Ser256insTer)
|
rs267608072
|
|
NM_000179.3(MSH6):c.762dup (p.Glu255Ter)
|
rs1572720288
|
|
NM_000179.3(MSH6):c.766_767del (p.Glu255_Ser256insTer)
|
rs1114167704
|
|
NM_000179.3(MSH6):c.767del (p.Ser256fs)
|
|
|
NM_000179.3(MSH6):c.770dup (p.Asp257fs)
|
rs2104296608
|
|
NM_000179.3(MSH6):c.776del (p.Gly259fs)
|
|
|
NM_000179.3(MSH6):c.807dup (p.Lys270Ter)
|
|
|
NM_000179.3(MSH6):c.814G>T (p.Glu272Ter)
|
rs63750552
|
|
NM_000179.3(MSH6):c.829G>T (p.Glu277Ter)
|
|
|
NM_000179.3(MSH6):c.837delinsTAGTGG (p.Gly283fs)
|
|
|
NM_000179.3(MSH6):c.841G>T (p.Gly281Ter)
|
|
|
NM_000179.3(MSH6):c.843_844insAC (p.Val282fs)
|
|
|
NM_000179.3(MSH6):c.843_847dup (p.Gly283fs)
|
rs1114167708
|
|
NM_000179.3(MSH6):c.845_848dup (p.Asp284fs)
|
|
|
NM_000179.3(MSH6):c.845dup (p.Asp284fs)
|
rs1553412283
|
|
NM_000179.3(MSH6):c.847_862del (p.Gly283fs)
|
|
|
NM_000179.3(MSH6):c.850_851insC (p.Asp284fs)
|
rs1572720562
|
|
NM_000179.3(MSH6):c.856G>T (p.Glu286Ter)
|
rs1057520605
|
|
NM_000179.3(MSH6):c.866del (p.Gly289fs)
|
|
|
NM_000179.3(MSH6):c.868del (p.Gly289_Leu290insTer)
|
rs2104302672
|
|
NM_000179.3(MSH6):c.872dup (p.Asn291fs)
|
|
|
NM_000179.3(MSH6):c.873_874del (p.Asn291fs)
|
rs1060502888
|
|
NM_000179.3(MSH6):c.878_883delinsTTCG (p.Pro293fs)
|
rs1114167748
|
|
NM_000179.3(MSH6):c.885dup (p.Val296fs)
|
rs1572720704
|
|
NM_000179.3(MSH6):c.896dup (p.Arg300fs)
|
|
|
NM_000179.3(MSH6):c.898_899del (p.Arg300fs)
|
|
|
NM_000179.3(MSH6):c.900del (p.Lys301fs)
|
rs863225421
|
|
NM_000179.3(MSH6):c.900dup (p.Lys301fs)
|
rs863225421
|
|
NM_000179.3(MSH6):c.901A>T (p.Lys301Ter)
|
rs1572720794
|
|
NM_000179.3(MSH6):c.901_902del (p.Lys301fs)
|
|
|
NM_000179.3(MSH6):c.908dup (p.Met303fs)
|
rs1057517551
|
|
NM_000179.3(MSH6):c.911_912insA (p.Thr305fs)
|
|
|
NM_000179.3(MSH6):c.921_922insAGCC (p.Gly308fs)
|
|
|
NM_000179.3(MSH6):c.940del (p.Ser314fs)
|
rs2104307566
|
|
NM_000179.3(MSH6):c.952G>T (p.Glu318Ter)
|
rs1114167763
|
|
NM_000179.3(MSH6):c.962C>G (p.Ser321Ter)
|
rs1472853525
|
|
NM_000179.3(MSH6):c.962delinsAGAGCTAGTTGCT (p.Ser321Ter)
|
|
|
NM_000179.3(MSH6):c.976_977insTTGCG (p.Ala326fs)
|
rs2104310469
|
|
NM_000179.3(MSH6):c.988dup (p.Ser330fs)
|
rs1553412409
|
|
NM_000179.3(MSH6):c.989C>A (p.Ser330Ter)
|
rs786202848
|
|
NM_000179.3(MSH6):c.999del (p.Lys334fs)
|
rs1060502932
|
|
NM_000228.3(LAMB3):c.823-1G>A
|
rs778372285
|
|
NM_000249.4(MLH1):c.1006_1007del (p.Gly336fs)
|
|
|
NM_000249.4(MLH1):c.100G>T (p.Glu34Ter)
|
|
|
NM_000249.4(MLH1):c.100_103del (p.Lys33_Glu34insTer)
|
|
|
NM_000249.4(MLH1):c.1011dup (p.Asn338fs)
|
rs63750677
|
|
NM_000249.4(MLH1):c.1023del (p.Met342fs)
|
rs63749837
|
|
NM_000249.4(MLH1):c.1024_1038+1del
|
rs1553648201
|
|
NM_000249.4(MLH1):c.1029C>G (p.Tyr343Ter)
|
rs1553648220
|
|
NM_000249.4(MLH1):c.1029del (p.Phe344fs)
|
rs876661059
|
|
NM_000249.4(MLH1):c.102_106del (p.Glu34fs)
|
|
|
NM_000249.4(MLH1):c.102del (p.Glu34_Met35insTer)
|
|
|
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.1042_1043del (p.Leu348fs)
|
rs1060500703
|
|
NM_000249.4(MLH1):c.1043T>A (p.Leu348Ter)
|
|
|
NM_000249.4(MLH1):c.1043del (p.Leu348fs)
|
rs1060500703
|
|
NM_000249.4(MLH1):c.1046_1047delinsC (p.Leu349fs)
|
|
|
NM_000249.4(MLH1):c.1046dup (p.Pro350fs)
|
rs267607822
|
|
NM_000249.4(MLH1):c.1047_1049delinsT (p.Pro350fs)
|
rs1559551570
|
|
NM_000249.4(MLH1):c.1047dup (p.Pro350fs)
|
rs1060500707
|
|
NM_000249.4(MLH1):c.1050del (p.Gly351fs)
|
rs587778883
|
|
NM_000249.4(MLH1):c.1051G>T (p.Gly351Ter)
|
rs1437454428
|
|
NM_000249.4(MLH1):c.1061del (p.Gly354fs)
|
rs63750472
|
|
NM_000249.4(MLH1):c.1084del (p.Ser362fs)
|
|
|
NM_000249.4(MLH1):c.1090del (p.Thr364fs)
|
rs876659226
|
|
NM_000249.4(MLH1):c.1101del (p.Ser368fs)
|
rs63750715
|
|
NM_000249.4(MLH1):c.1105dup (p.Ser369fs)
|
rs1060500699
|
|
NM_000249.4(MLH1):c.1109del (p.Ser370fs)
|
|
|
NM_000249.4(MLH1):c.1117G>T (p.Gly373Ter)
|
|
|
NM_000249.4(MLH1):c.1121dup (p.Ser374fs)
|
|
|
NM_000249.4(MLH1):c.1127_1131del (p.Asp376fs)
|
|
|
NM_000249.4(MLH1):c.1129A>T (p.Lys377Ter)
|
rs2083402714
|
|
NM_000249.4(MLH1):c.1132del (p.Val378fs)
|
rs2083403132
|
|
NM_000249.4(MLH1):c.1144C>T (p.Gln382Ter)
|
|
|
NM_000249.4(MLH1):c.1152_1155dup (p.Thr386fs)
|
|
|
NM_000249.4(MLH1):c.116+1G>A
|
rs267607709
|
|
NM_000249.4(MLH1):c.116+5G>C
|
rs267607710
|
|
NM_000249.4(MLH1):c.1164_1165del (p.Arg389fs)
|
|
|
NM_000249.4(MLH1):c.1168G>T (p.Glu390Ter)
|
rs886039423
|
|
NM_000249.4(MLH1):c.1168dup (p.Glu390fs)
|
rs2083411159
|
|
NM_000249.4(MLH1):c.116G>A (p.Cys39Tyr)
|
rs63751701
|
|
NM_000249.4(MLH1):c.1171_1193del (p.Gln391fs)
|
rs2083412120
|
|
NM_000249.4(MLH1):c.1181dup (p.Asp394fs)
|
|
|
NM_000249.4(MLH1):c.1182dup (p.Ala395fs)
|
|
|
NM_000249.4(MLH1):c.1187_1190del (p.Phe396fs)
|
|
|
NM_000249.4(MLH1):c.1190del (p.Leu397fs)
|
rs63750749
|
|
NM_000249.4(MLH1):c.1192C>T (p.Gln398Ter)
|
rs63750483
|
|
NM_000249.4(MLH1):c.119T>G (p.Leu40Ter)
|
|
|
NM_000249.4(MLH1):c.119_131delinsNNNNNNNNNNN (p.Leu40fs)
|
|
|
NM_000249.4(MLH1):c.11_12del (p.Val4fs)
|
|
|
NM_000249.4(MLH1):c.1204_1207dup (p.Pro403fs)
|
|
|
NM_000249.4(MLH1):c.1210_1211del (p.Leu404fs)
|
rs63751015
|
|
NM_000249.4(MLH1):c.1210del (p.Leu404fs)
|
|
|
NM_000249.4(MLH1):c.1219C>T (p.Gln407Ter)
|
rs1057517541
|
|
NM_000249.4(MLH1):c.1225C>T (p.Gln409Ter)
|
rs63751153
|
|
NM_000249.4(MLH1):c.1233_1254dup (p.Ile419delinsCysHisArgGlyTer)
|
rs1575536254
|
|
NM_000249.4(MLH1):c.1239dup (p.Glu414fs)
|
rs2125883954
|
|
NM_000249.4(MLH1):c.1241_1242del (p.Glu414fs)
|
rs2083425688
|
|
NM_000249.4(MLH1):c.1243delinsTT (p.Asp415fs)
|
|
|
NM_000249.4(MLH1):c.1246A>T (p.Lys416Ter)
|
rs267607823
|
|
NM_000249.4(MLH1):c.1250_1251del (p.Thr417fs)
|
|
|
NM_000249.4(MLH1):c.1252_1253del (p.Asp418fs)
|
rs63751118
|
|
NM_000249.4(MLH1):c.1255del (p.Ile419fs)
|
|
|
NM_000249.4(MLH1):c.1258del (p.Ser420fs)
|
rs863225373
|
|
NM_000249.4(MLH1):c.1275dup (p.Gln426fs)
|
rs2125884574
|
|
NM_000249.4(MLH1):c.1276C>T (p.Gln426Ter)
|
rs63750316
|
|
NM_000249.4(MLH1):c.1279C>T (p.Gln427Ter)
|
rs1559553501
|
|
NM_000249.4(MLH1):c.1286_1293del (p.Glu429fs)
|
|
|
NM_000249.4(MLH1):c.1287_1288insC (p.Glu430fs)
|
|
|
NM_000249.4(MLH1):c.1288G>T (p.Glu430Ter)
|
|
|
NM_000249.4(MLH1):c.1297G>T (p.Glu433Ter)
|
rs63750443
|
|
NM_000249.4(MLH1):c.1297del (p.Glu433fs)
|
|
|
NM_000249.4(MLH1):c.1304_1305delinsTGCTGAAGTGGCT (p.Pro435fs)
|
rs1553651299
|
|
NM_000249.4(MLH1):c.1315G>T (p.Glu439Ter)
|
rs1302248679
|
|
NM_000249.4(MLH1):c.1325_1346delinsATTTT (p.Ala442fs)
|
rs587778903
|
|
NM_000249.4(MLH1):c.1331del (p.Asn444fs)
|
|
|
NM_000249.4(MLH1):c.1331dup (p.Asn444fs)
|
rs2083443709
|
|
NM_000249.4(MLH1):c.1333C>T (p.Gln445Ter)
|
rs1575537843
|
|
NM_000249.4(MLH1):c.1336_1337del (p.Ser446fs)
|
rs1114167435
|
|
NM_000249.4(MLH1):c.133del (p.Thr45fs)
|
|
|
NM_000249.4(MLH1):c.1342G>T (p.Glu448Ter)
|
rs1575537933
|
|
NM_000249.4(MLH1):c.1343_1344insC (p.Glu448fs)
|
|
|
NM_000249.4(MLH1):c.1343del (p.Glu448fs)
|
rs63749981
|
|
NM_000249.4(MLH1):c.1348dup (p.Asp450fs)
|
rs587778906
|
|
NM_000249.4(MLH1):c.1350_1351dup (p.Thr451fs)
|
|
|
NM_000249.4(MLH1):c.1358del (p.Lys453fs)
|
|
|
NM_000249.4(MLH1):c.1362del (p.Thr455fs)
|
rs267607821
|
|
NM_000249.4(MLH1):c.1362dup (p.Thr455fs)
|
rs267607821
|
|
NM_000249.4(MLH1):c.1367C>A (p.Ser456Ter)
|
|
|
NM_000249.4(MLH1):c.1367C>G (p.Ser456Ter)
|
|
|
NM_000249.4(MLH1):c.1367del (p.Thr455_Ser456insTer)
|
rs2125886267
|
|
NM_000249.4(MLH1):c.1377del (p.Glu460fs)
|
rs587778908
|
|
NM_000249.4(MLH1):c.1377dup (p.Glu460fs)
|
rs63750020
|
|
NM_000249.4(MLH1):c.1378G>T (p.Glu460Ter)
|
rs756843954
|
|
NM_000249.4(MLH1):c.1380_1381del (p.Lys461fs)
|
rs587778909
|
|
NM_000249.4(MLH1):c.1381A>T (p.Lys461Ter)
|
rs63750540
|
|
NM_000249.4(MLH1):c.1398del (p.Ser467fs)
|
rs63750713
|
|
NM_000249.4(MLH1):c.1400del (p.Ser467fs)
|
rs1064795515
|
|
NM_000249.4(MLH1):c.1408A>T (p.Arg470Ter)
|
rs2125887070
|
|
NM_000249.4(MLH1):c.1409+1G>A
|
rs267607825
|
|
NM_000249.4(MLH1):c.1409+1G>C
|
rs267607825
|
|
NM_000249.4(MLH1):c.1409+1G>T
|
rs267607825
|
|
NM_000249.4(MLH1):c.1411_1414del (p.Lys471Aspfs)
|
rs63751592
|
|
NM_000249.4(MLH1):c.1413_1416dup (p.His473fs)
|
|
|
NM_000249.4(MLH1):c.1415_1416del (p.Arg472fs)
|
rs281864936
|
|
NM_000249.4(MLH1):c.1416dup (p.His473fs)
|
rs1553652883
|
|
NM_000249.4(MLH1):c.1423G>T (p.Glu475Ter)
|
|
|
NM_000249.4(MLH1):c.1429del (p.Ser477fs)
|
|
|
NM_000249.4(MLH1):c.142C>T (p.Gln48Ter)
|
rs587778913
|
|
NM_000249.4(MLH1):c.1432del (p.Asp478fs)
|
|
|
NM_000249.4(MLH1):c.1435_1453del (p.Val479fs)
|
rs2125901597
|
|
NM_000249.4(MLH1):c.1447G>T (p.Glu483Ter)
|
|
|
NM_000249.4(MLH1):c.1456dup (p.Ser486fs)
|
rs878853778
|
|
NM_000249.4(MLH1):c.1459C>T (p.Arg487Ter)
|
rs63749795
|
|
NM_000249.4(MLH1):c.1478del (p.Ala493fs)
|
rs2083706682
|
|
NM_000249.4(MLH1):c.1489_1490insCG (p.Arg497fs)
|
rs1553653037
|
|
NM_000249.4(MLH1):c.1489del (p.Arg497fs)
|
rs63750855
|
|
NM_000249.4(MLH1):c.1489dup (p.Arg497fs)
|
rs63750855
|
|
NM_000249.4(MLH1):c.1491dup (p.Arg498fs)
|
rs63751435
|
|
NM_000249.4(MLH1):c.1499del (p.Ile500fs)
|
rs2125902731
|
|
NM_000249.4(MLH1):c.1502_1503delinsA (p.Ile501fs)
|
rs1553653084
|
|
NM_000249.4(MLH1):c.1516_1517del (p.Val506fs)
|
rs1553653115
|
|
NM_000249.4(MLH1):c.1520del (p.Val506_Leu507insTer)
|
rs63749916
|
|
NM_000249.4(MLH1):c.1522_1523del (p.Leu509fs)
|
rs876658821
|
|
NM_000249.4(MLH1):c.1528C>T (p.Gln510Ter)
|
rs63749923
|
|
NM_000249.4(MLH1):c.1528_1532delinsACTAGTTTG (p.Gln510fs)
|
rs2083718945
|
|
NM_000249.4(MLH1):c.1530_1534del (p.Glu511fs)
|
|
|
NM_000249.4(MLH1):c.1534G>T (p.Glu512Ter)
|
rs63751472
|
|
NM_000249.4(MLH1):c.1543G>T (p.Glu515Ter)
|
|
|
NM_000249.4(MLH1):c.1546C>T (p.Gln516Ter)
|
rs1553653195
|
|
NM_000249.4(MLH1):c.1547dup (p.His518fs)
|
|
|
NM_000249.4(MLH1):c.154_158del (p.Lys52fs)
|
|
|
NM_000249.4(MLH1):c.1554dup (p.Glu519Ter)
|
rs63751689
|
|
NM_000249.4(MLH1):c.1559-1G>A
|
rs267607837
|
|
NM_000249.4(MLH1):c.1559-1G>C
|
rs267607837
|
|
NM_000249.4(MLH1):c.1559-1G>T
|
rs267607837
|
|
NM_000249.4(MLH1):c.1559-2A>C
|
rs267607836
|
|
NM_000249.4(MLH1):c.1559-2A>G
|
rs267607836
|
|
NM_000249.4(MLH1):c.155_156del (p.Lys52fs)
|
rs63750028
|
|
NM_000249.4(MLH1):c.155_158del (p.Lys52fs)
|
rs587778923
|
|
NM_000249.4(MLH1):c.1568del (p.Glu523fs)
|
|
|
NM_000249.4(MLH1):c.1568dup (p.Met524fs)
|
rs2084634023
|
|
NM_000249.4(MLH1):c.1569del (p.Met524fs)
|
rs1559574795
|
|
NM_000249.4(MLH1):c.156del (p.Glu53fs)
|
rs63750028
|
|
NM_000249.4(MLH1):c.156dup (p.Glu53fs)
|
rs63750028
|
|
NM_000249.4(MLH1):c.1572_1573del (p.Met524fs)
|
rs587778928
|
|
NM_000249.4(MLH1):c.1574T>A (p.Leu525Ter)
|
rs587778929
|
|
NM_000249.4(MLH1):c.1581_1582del (p.Asn527fs)
|
|
|
NM_000249.4(MLH1):c.1582_1583insGGTT (p.His528fs)
|
|
|
NM_000249.4(MLH1):c.1582del (p.His528fs)
|
|
|
NM_000249.4(MLH1):c.1589_1608del (p.Phe530fs)
|
|
|
NM_000249.4(MLH1):c.1591del (p.Val531fs)
|
rs1553658009
|
|
NM_000249.4(MLH1):c.1597_1616del (p.Cys533fs)
|
|
|
NM_000249.4(MLH1):c.1597del (p.Cys533fs)
|
rs1559575107
|
|
NM_000249.4(MLH1):c.1598_1608dup (p.Gln537delinsValTer)
|
|
|
NM_000249.4(MLH1):c.1601_1602del (p.Val534fs)
|
|
|
NM_000249.4(MLH1):c.1609C>T (p.Gln537Ter)
|
rs63751277
|
|
NM_000249.4(MLH1):c.1609del (p.Gln537fs)
|
|
|
NM_000249.4(MLH1):c.1613G>A (p.Trp538Ter)
|
rs587778933
|
|
NM_000249.4(MLH1):c.1614G>A (p.Trp538Ter)
|
rs267607842
|
|
NM_000249.4(MLH1):c.1624C>T (p.Gln542Ter)
|
rs63750192
|
|
NM_000249.4(MLH1):c.1633dup (p.Thr545fs)
|
rs1553658104
|
|
NM_000249.4(MLH1):c.1635dup (p.Lys546fs)
|
|
|
NM_000249.4(MLH1):c.1639_1643dup (p.Leu549fs)
|
rs587778934
|
|
NM_000249.4(MLH1):c.1640T>G (p.Leu547Ter)
|
rs63750300
|
|
NM_000249.4(MLH1):c.1643_1649del (p.Tyr548fs)
|
|
|
NM_000249.4(MLH1):c.1644C>A (p.Tyr548Ter)
|
|
|
NM_000249.4(MLH1):c.1645del (p.Leu549fs)
|
|
|
NM_000249.4(MLH1):c.1653del (p.Asn551fs)
|
|
|
NM_000249.4(MLH1):c.1654dup (p.Thr552fs)
|
|
|
NM_000249.4(MLH1):c.1656del (p.Thr553fs)
|
rs876660589
|
|
NM_000249.4(MLH1):c.1656dup (p.Thr553fs)
|
|
|
NM_000249.4(MLH1):c.1661del (p.Lys554fs)
|
|
|
NM_000249.4(MLH1):c.1667+1G>A
|
rs1434898623
|
|
NM_000249.4(MLH1):c.1667+1G>C
|
|
|
NM_000249.4(MLH1):c.1667+1G>T
|
|
|
NM_000249.4(MLH1):c.1667+2T>A
|
|
|
NM_000249.4(MLH1):c.1667+2T>C
|
rs878853780
|
|
NM_000249.4(MLH1):c.1667+2T>G
|
|
|
NM_000249.4(MLH1):c.1667+2_1667+8delinsATTT
|
rs587778938
|
|
NM_000249.4(MLH1):c.1668-1G>A
|
rs267607845
|
|
NM_000249.4(MLH1):c.1668-1G>C
|
|
|
NM_000249.4(MLH1):c.1668-1G>T
|
rs267607845
|
|
NM_000249.4(MLH1):c.1668-2A>C
|
rs1559578422
|
|
NM_000249.4(MLH1):c.1668-2A>G
|
rs1559578422
|
|
NM_000249.4(MLH1):c.1669G>T (p.Glu557Ter)
|
rs63751244
|
|
NM_000249.4(MLH1):c.1673_1676dup (p.Phe560fs)
|
|
|
NM_000249.4(MLH1):c.1683C>G (p.Tyr561Ter)
|
rs63751393
|
|
NM_000249.4(MLH1):c.1684C>T (p.Gln562Ter)
|
rs63751460
|
|
NM_000249.4(MLH1):c.1685del (p.Gln562fs)
|
|
|
NM_000249.4(MLH1):c.1688_1689del (p.Ile563fs)
|
rs863225376
|
|
NM_000249.4(MLH1):c.1689_1713del (p.Ile563fs)
|
|
|
NM_000249.4(MLH1):c.1690_1693del (p.Leu564fs)
|
rs267607849
|
|
NM_000249.4(MLH1):c.1698T>A (p.Tyr566Ter)
|
rs876658915
|
|
NM_000249.4(MLH1):c.169A>T (p.Lys57Ter)
|
|
|
NM_000249.4(MLH1):c.1704del (p.Phe568fs)
|
|
|
NM_000249.4(MLH1):c.1707del (p.Asn570fs)
|
rs2125957824
|
|
NM_000249.4(MLH1):c.170del (p.Lys57fs)
|
|
|
NM_000249.4(MLH1):c.1719del (p.Leu574fs)
|
rs863225377
|
|
NM_000249.4(MLH1):c.1727dup (p.Leu576fs)
|
|
|
NM_000249.4(MLH1):c.1728del (p.Leu576fs)
|
|
|
NM_000249.4(MLH1):c.1730C>A (p.Ser577Ter)
|
rs56185292
|
|
NM_000249.4(MLH1):c.1731+1G>A
|
rs267607853
|
|
NM_000249.4(MLH1):c.1731+1G>C
|
rs267607853
|
|
NM_000249.4(MLH1):c.1731+1G>T
|
rs267607853
|
|
NM_000249.4(MLH1):c.1731+2T>G
|
rs267607856
|
|
NM_000249.4(MLH1):c.1731+5G>A
|
rs267607850
|
|
NM_000249.4(MLH1):c.1731G>A (p.Ser577=)
|
rs63751657
|
|
NM_000249.4(MLH1):c.1731G>T (p.Ser577=)
|
rs63751657
|
|
NM_000249.4(MLH1):c.1740_1753del (p.Pro581fs)
|
rs1553662622
|
|
NM_000249.4(MLH1):c.1745_1758del (p.Leu582fs)
|
rs1575620443
|
|
NM_000249.4(MLH1):c.1745del (p.Leu582fs)
|
rs587778942
|
|
NM_000249.4(MLH1):c.1746del (p.Phe583fs)
|
rs876659068
|
|
NM_000249.4(MLH1):c.1749del (p.Phe583fs)
|
rs63750309
|
|
NM_000249.4(MLH1):c.174_175delinsT (p.Leu58fs)
|
rs876660860
|
|
NM_000249.4(MLH1):c.1758del (p.Met587fs)
|
rs63749863
|
|
NM_000249.4(MLH1):c.1758dup (p.Met587fs)
|
rs63749863
|
|
NM_000249.4(MLH1):c.1759_1763del (p.Met587fs)
|
|
|
NM_000249.4(MLH1):c.1761dup (p.Leu588fs)
|
|
|
NM_000249.4(MLH1):c.1762_1768dup (p.Leu590fs)
|
rs2125984506
|
|
NM_000249.4(MLH1):c.1769T>A (p.Leu590Ter)
|
|
|
NM_000249.4(MLH1):c.1770dup (p.Asp591fs)
|
|
|
NM_000249.4(MLH1):c.1771del (p.Asp591fs)
|
|
|
NM_000249.4(MLH1):c.1772_1775del (p.Asp591fs)
|
rs63749868
|
|
NM_000249.4(MLH1):c.1778_1779del (p.Pro593fs)
|
rs63750375
|
|
NM_000249.4(MLH1):c.1778del (p.Pro593fs)
|
|
|
NM_000249.4(MLH1):c.177del (p.Gln60fs)
|
|
|
NM_000249.4(MLH1):c.1781del (p.Glu594fs)
|
|
|
NM_000249.4(MLH1):c.1783_1784del (p.Ser595fs)
|
rs63750035
|
|
NM_000249.4(MLH1):c.1789_1790insATCT (p.Trp597fs)
|
|
|
NM_000249.4(MLH1):c.1790G>A (p.Trp597Ter)
|
rs63750604
|
|
NM_000249.4(MLH1):c.1790_1791delinsATCTGGACC (p.Trp597fs)
|
rs863225378
|
|
NM_000249.4(MLH1):c.1791G>A (p.Trp597Ter)
|
rs1416171624
|
|
NM_000249.4(MLH1):c.1809del (p.Glu605fs)
|
rs2125985001
|
|
NM_000249.4(MLH1):c.1810A>T (p.Lys604Ter)
|
rs63750386
|
|
NM_000249.4(MLH1):c.1824_1825dup (p.Glu609fs)
|
rs1575621506
|
|
NM_000249.4(MLH1):c.1830C>G (p.Tyr610Ter)
|
rs2125985283
|
|
NM_000249.4(MLH1):c.1830_1831del (p.Ile611fs)
|
|
|
NM_000249.4(MLH1):c.1831_1832del (p.Ile611fs)
|
rs63750150
|
|
NM_000249.4(MLH1):c.1834_1847delinsT (p.Ile611_Val612insTer)
|
rs863225379
|
|
NM_000249.4(MLH1):c.1841_1842del (p.Phe614fs)
|
|
|
NM_000249.4(MLH1):c.1847del (p.Lys616fs)
|
|
|
NM_000249.4(MLH1):c.1848del (p.Lys617fs)
|
|
|
NM_000249.4(MLH1):c.184C>T (p.Gln62Ter)
|
rs63751428
|
|
NM_000249.4(MLH1):c.1855_1856dup (p.Glu620fs)
|
|
|
NM_000249.4(MLH1):c.1855del (p.Ala619fs)
|
rs63749986
|
|
NM_000249.4(MLH1):c.1856_1859dup (p.Glu620delinsAspTer)
|
|
|
NM_000249.4(MLH1):c.1858del (p.Glu620fs)
|
rs786203456
|
|
NM_000249.4(MLH1):c.1860dup (p.Met621fs)
|
rs863225380
|
|
NM_000249.4(MLH1):c.1865_1866insAT (p.Ala623fs)
|
|
|
NM_000249.4(MLH1):c.1867dup (p.Ala623fs)
|
|
|
NM_000249.4(MLH1):c.1873dup (p.Tyr625fs)
|
|
|
NM_000249.4(MLH1):c.1877_1883del (p.Phe626fs)
|
rs63751594
|
|
NM_000249.4(MLH1):c.1877del (p.Phe626fs)
|
rs63750152
|
|
NM_000249.4(MLH1):c.1882_1883del (p.Leu628fs)
|
|
|
NM_000249.4(MLH1):c.1883T>A (p.Leu628Ter)
|
rs1553663159
|
|
NM_000249.4(MLH1):c.1885del (p.Glu629fs)
|
|
|
NM_000249.4(MLH1):c.1890dup (p.Asp631Ter)
|
rs786201990
|
|
NM_000249.4(MLH1):c.1896+1G>A
|
rs267607867
|
|
NM_000249.4(MLH1):c.1896+1G>C
|
rs267607867
|
|
NM_000249.4(MLH1):c.1896+1G>T
|
rs267607867
|
|
NM_000249.4(MLH1):c.18_34del (p.Val7fs)
|
rs63751892
|
|
NM_000249.4(MLH1):c.1902del (p.Asn635fs)
|
rs587778956
|
|
NM_000249.4(MLH1):c.1907_1920del (p.Leu636fs)
|
rs1553663750
|
|
NM_000249.4(MLH1):c.190_191del (p.Asn64fs)
|
rs63750469
|
|
NM_000249.4(MLH1):c.1912G>T (p.Gly638Ter)
|
rs63750549
|
|
NM_000249.4(MLH1):c.1913_1926dup (p.Ile643delinsAspTyrProPheTer)
|
rs587778958
|
|
NM_000249.4(MLH1):c.1917_1924del (p.Leu639fs)
|
|
|
NM_000249.4(MLH1):c.191dup (p.Asn64fs)
|
rs63751255
|
|
NM_000249.4(MLH1):c.1921del (p.Leu641fs)
|
|
|
NM_000249.4(MLH1):c.1921dup (p.Leu641fs)
|
rs2125990255
|
|
NM_000249.4(MLH1):c.1923del (p.Leu641_Leu642insTer)
|
rs1553663834
|
|
NM_000249.4(MLH1):c.1928_1931dup (p.Asp644_Asn645insTer)
|
|
|
NM_000249.4(MLH1):c.1929del (p.Ile643fs)
|
rs2085415927
|
|
NM_000249.4(MLH1):c.192dup (p.Gly65fs)
|
|
|
NM_000249.4(MLH1):c.1938T>A (p.Tyr646Ter)
|
|
|
NM_000249.4(MLH1):c.1938_1945dup (p.Pro649fs)
|
rs1064794331
|
|
NM_000249.4(MLH1):c.193_201delinsC (p.Gly65fs)
|
|
|
NM_000249.4(MLH1):c.1945_1946dup (p.Glu651fs)
|
|
|
NM_000249.4(MLH1):c.1946del (p.Pro649fs)
|
rs281864938
|
|
NM_000249.4(MLH1):c.1946dup (p.Leu650fs)
|
|
|
NM_000249.4(MLH1):c.1951G>T (p.Glu651Ter)
|
|
|
NM_000249.4(MLH1):c.1955del (p.Gly652fs)
|
|
|
NM_000249.4(MLH1):c.1957del (p.Leu653fs)
|
|
|
NM_000249.4(MLH1):c.195delinsATCTT (p.Thr66fs)
|
rs1553638868
|
|
NM_000249.4(MLH1):c.1961C>T (p.Pro654Leu)
|
rs63750726
|
|
NM_000249.4(MLH1):c.1969dup (p.Ile657fs)
|
rs2085425585
|
|
NM_000249.4(MLH1):c.1975C>T (p.Arg659Ter)
|
rs63751310
|
|
NM_000249.4(MLH1):c.1978del (p.Arg659_Leu660insTer)
|
|
|
NM_000249.4(MLH1):c.197_207+20del
|
|
|
NM_000249.4(MLH1):c.1983dup (p.Thr662fs)
|
rs2125991131
|
|
NM_000249.4(MLH1):c.198dup (p.Gly67fs)
|
rs587778966
|
|
NM_000249.4(MLH1):c.1997G>A (p.Trp666Ter)
|
rs886039424
|
|
NM_000249.4(MLH1):c.199G>A (p.Gly67Arg)
|
rs63750206
|
|
NM_000249.4(MLH1):c.199G>C (p.Gly67Arg)
|
rs63750206
|
|
NM_000249.4(MLH1):c.199G>T (p.Gly67Trp)
|
rs63750206
|
|
NM_000249.4(MLH1):c.19del (p.Val7fs)
|
rs2080886738
|
|
NM_000249.4(MLH1):c.2006_2010del (p.Glu669fs)
|
rs63750061
|
|
NM_000249.4(MLH1):c.2011G>T (p.Glu671Ter)
|
rs63750663
|
|
NM_000249.4(MLH1):c.2013_2014del (p.Cys672fs)
|
|
|
NM_000249.4(MLH1):c.201del (p.Ile68fs)
|
rs587778968
|
|
NM_000249.4(MLH1):c.201dup (p.Ile68fs)
|
rs587778968
|
|
NM_000249.4(MLH1):c.2020G>T (p.Glu674Ter)
|
|
|
NM_000249.4(MLH1):c.2030dup (p.Ser677fs)
|
rs2085469647
|
|
NM_000249.4(MLH1):c.2032A>T (p.Lys678Ter)
|
rs1553664436
|
|
NM_000249.4(MLH1):c.2035G>T (p.Glu679Ter)
|
rs587778971
|
|
NM_000249.4(MLH1):c.2040C>A (p.Cys680Ter)
|
rs63749867
|
|
NM_000249.4(MLH1):c.2044_2045del (p.Met682fs)
|
rs878853785
|
|
NM_000249.4(MLH1):c.2052T>A (p.Tyr684Ter)
|
|
|
NM_000249.4(MLH1):c.2059del (p.Arg687fs)
|
rs863225381
|
|
NM_000249.4(MLH1):c.2065C>T (p.Gln689Ter)
|
rs41542214
|
|
NM_000249.4(MLH1):c.2069dup (p.Tyr690Ter)
|
|
|
NM_000249.4(MLH1):c.207+1G>T
|
rs267607718
|
|
NM_000249.4(MLH1):c.207+2T>C
|
rs267607722
|
|
NM_000249.4(MLH1):c.207+2T>G
|
rs267607722
|
|
NM_000249.4(MLH1):c.2070C>A (p.Tyr690Ter)
|
rs550890395
|
|
NM_000249.4(MLH1):c.2070C>G (p.Tyr690Ter)
|
rs550890395
|
|
NM_000249.4(MLH1):c.2071_2072insG (p.Ile691fs)
|
rs1575632112
|
|
NM_000249.4(MLH1):c.2072dup (p.Ser692fs)
|
|
|
NM_000249.4(MLH1):c.2076_2077del (p.Glu693fs)
|
rs63750769
|
|
NM_000249.4(MLH1):c.208-1G>A
|
rs267607717
|
|
NM_000249.4(MLH1):c.2080dup (p.Glu694fs)
|
rs1553664617
|
|
NM_000249.4(MLH1):c.2082dup (p.Ser695fs)
|
|
|
NM_000249.4(MLH1):c.2084C>A (p.Ser695Ter)
|
rs63749995
|
|
NM_000249.4(MLH1):c.2089_2090insGG (p.Leu697fs)
|
|
|
NM_000249.4(MLH1):c.2091_2093delinsT (p.Ser698fs)
|
|
|
NM_000249.4(MLH1):c.2092_2093del (p.Ser698fs)
|
rs63750859
|
|
NM_000249.4(MLH1):c.2093C>G (p.Ser698Ter)
|
rs587778975
|
|
NM_000249.4(MLH1):c.2098C>T (p.Gln700Ter)
|
rs1553664702
|
|
NM_000249.4(MLH1):c.2100_2103+13delinsCTG
|
|
|
NM_000249.4(MLH1):c.2101C>T (p.Gln701Ter)
|
rs63750114
|
|
NM_000249.4(MLH1):c.2102dup (p.Ser702fs)
|
|
|
NM_000249.4(MLH1):c.2105dup (p.Ser702fs)
|
|
|
NM_000249.4(MLH1):c.2109_2112dup (p.Pro705fs)
|
|
|
NM_000249.4(MLH1):c.210_213del
|
rs267607723
|
|
NM_000249.4(MLH1):c.2135G>A (p.Trp712Ter)
|
rs63750561
|
|
NM_000249.4(MLH1):c.2136G>A (p.Trp712Ter)
|
rs63750499
|
|
NM_000249.4(MLH1):c.2136del (p.Ser711_Trp712insTer)
|
rs1060500706
|
|
NM_000249.4(MLH1):c.2138_2151del (p.Lys713fs)
|
rs2148522723
|
|
NM_000249.4(MLH1):c.2141G>A (p.Trp714Ter)
|
rs63751022
|
|
NM_000249.4(MLH1):c.2142G>A (p.Trp714Ter)
|
rs63750978
|
|
NM_000249.4(MLH1):c.2147_2148del (p.Val716fs)
|
rs587778981
|
|
NM_000249.4(MLH1):c.2148_2149del (p.Glu717fs)
|
rs1575639851
|
|
NM_000249.4(MLH1):c.2148_2163del (p.Glu717fs)
|
|
|
NM_000249.4(MLH1):c.2149G>T (p.Glu717Ter)
|
|
|
NM_000249.4(MLH1):c.2154_2155del (p.Ile719fs)
|
rs63750971
|
|
NM_000249.4(MLH1):c.2156_2157del (p.Ile719fs)
|
|
|
NM_000249.4(MLH1):c.2161_2191dup (p.Pro731delinsLeuTer)
|
rs1553665683
|
|
NM_000249.4(MLH1):c.2162del (p.Tyr721fs)
|
rs786202767
|
|
NM_000249.4(MLH1):c.2163del (p.Val720_Tyr721insTer)
|
rs2148523658
|
|
NM_000249.4(MLH1):c.2174_2177dup (p.His727fs)
|
|
|
NM_000249.4(MLH1):c.2177C>A (p.Ser726Ter)
|
|
|
NM_000249.4(MLH1):c.2177C>G (p.Ser726Ter)
|
rs864622457
|
|
NM_000249.4(MLH1):c.2179_2182del (p.His727fs)
|
rs267607898
|
|
NM_000249.4(MLH1):c.2179delinsAG (p.His727fs)
|
|
|
NM_000249.4(MLH1):c.2181_2182del (p.Ile728fs)
|
rs267607898
|
|
NM_000249.4(MLH1):c.2186dup (p.Pro730fs)
|
|
|
NM_000249.4(MLH1):c.2187_2190dup (p.Pro731fs)
|
|
|
NM_000249.4(MLH1):c.2190del (p.Pro731fs)
|
rs587780683
|
|
NM_000249.4(MLH1):c.2194A>T (p.Lys732Ter)
|
rs267607906
|
|
NM_000249.4(MLH1):c.2195_2196del (p.Lys732fs)
|
rs2148524462
|
|
NM_000249.4(MLH1):c.2195_2198dup (p.His733fs)
|
rs267607903
|
|
NM_000249.4(MLH1):c.2196dup (p.His733fs)
|
|
|
NM_000249.4(MLH1):c.2206G>T (p.Glu736Ter)
|
rs876659608
|
|
NM_000249.4(MLH1):c.2212G>T (p.Gly738Ter)
|
rs1553665866
|
|
NM_000249.4(MLH1):c.2218dup (p.Ile740fs)
|
rs587778989
|
|
NM_000249.4(MLH1):c.2224C>T (p.Gln742Ter)
|
rs587778992
|
|
NM_000249.4(MLH1):c.2236_2237insG (p.Leu746fs)
|
|
|
NM_000249.4(MLH1):c.2236dup (p.Leu746fs)
|
rs1553665977
|
|
NM_000249.4(MLH1):c.2246T>C (p.Leu749Pro)
|
rs267607894
|
|
NM_000249.4(MLH1):c.2250C>A (p.Tyr750Ter)
|
rs267607893
|
|
NM_000249.4(MLH1):c.2250C>G (p.Tyr750Ter)
|
rs267607893
|
|
NM_000249.4(MLH1):c.2250_2251del (p.Tyr750_Lys751delinsTer)
|
|
|
NM_000249.4(MLH1):c.2251A>T (p.Lys751Ter)
|
rs786204318
|
|
NM_000249.4(MLH1):c.2252_2253del (p.Lys751fs)
|
rs267607901
|
|
NM_000249.4(MLH1):c.2259dup (p.Glu754Ter)
|
|
|
NM_000249.4(MLH1):c.227dup (p.Cys77fs)
|
rs2125735738
|
|
NM_000249.4(MLH1):c.22del (p.Ile8fs)
|
rs2125693612
|
|
NM_000249.4(MLH1):c.232G>T (p.Glu78Ter)
|
|
|
NM_000249.4(MLH1):c.232del (p.Glu78fs)
|
rs587778997
|
|
NM_000249.4(MLH1):c.239del (p.Phe80fs)
|
|
|
NM_000249.4(MLH1):c.23_38del (p.Ile8fs)
|
|
|
NM_000249.4(MLH1):c.251_255del (p.Lys84fs)
|
|
|
NM_000249.4(MLH1):c.252del (p.Lys84fs)
|
rs876660822
|
|
NM_000249.4(MLH1):c.256C>T (p.Gln86Ter)
|
rs63751421
|
|
NM_000249.4(MLH1):c.25_26delinsTA (p.Arg9Ter)
|
rs869312767
|
|
NM_000249.4(MLH1):c.264dup (p.Glu89Ter)
|
|
|
NM_000249.4(MLH1):c.265G>T (p.Glu89Ter)
|
rs11541859
|
|
NM_000249.4(MLH1):c.279dup (p.Ile94fs)
|
|
|
NM_000249.4(MLH1):c.283del (p.Ser95fs)
|
rs1064795441
|
|
NM_000249.4(MLH1):c.286delinsGC (p.Thr96fs)
|
|
|
NM_000249.4(MLH1):c.290dup (p.Tyr97Ter)
|
rs1575414904
|
|
NM_000249.4(MLH1):c.304G>A (p.Glu102Lys)
|
rs63750453
|
|
NM_000249.4(MLH1):c.304G>T (p.Glu102Ter)
|
|
|
NM_000249.4(MLH1):c.306+1G>A
|
rs267607734
|
|
NM_000249.4(MLH1):c.306+1G>C
|
|
|
NM_000249.4(MLH1):c.306G>T (p.Glu102Asp)
|
rs63751665
|
|
NM_000249.4(MLH1):c.313dup (p.Ala105fs)
|
|
|
NM_000249.4(MLH1):c.31del (p.Leu11fs)
|
rs63749816
|
|
NM_000249.4(MLH1):c.325del (p.His109fs)
|
rs1553641273
|
|
NM_000249.4(MLH1):c.333_334del (p.His112fs)
|
|
|
NM_000249.4(MLH1):c.346dup (p.Thr116fs)
|
rs267607739
|
|
NM_000249.4(MLH1):c.358_361dup (p.Asp121delinsGlyTer)
|
|
|
NM_000249.4(MLH1):c.35del (p.Asp12fs)
|
rs2125693787
|
|
NM_000249.4(MLH1):c.366_369del (p.Lys123fs)
|
|
|
NM_000249.4(MLH1):c.372_373del (p.Ala125fs)
|
rs587779006
|
|
NM_000249.4(MLH1):c.378C>A (p.Tyr126Ter)
|
|
|
NM_000249.4(MLH1):c.37G>T (p.Glu13Ter)
|
rs587779008
|
|
NM_000249.4(MLH1):c.383del (p.Ala128fs)
|
rs2125772569
|
|
NM_000249.4(MLH1):c.386del (p.Ser129fs)
|
|
|
NM_000249.4(MLH1):c.389del (p.Tyr130fs)
|
rs587779012
|
|
NM_000249.4(MLH1):c.38_39insCCCA (p.Glu13fs)
|
rs63750057
|
|
NM_000249.4(MLH1):c.38dup (p.Thr14fs)
|
rs63750057
|
|
NM_000249.4(MLH1):c.390C>G (p.Tyr130Ter)
|
rs1060500689
|
|
NM_000249.4(MLH1):c.392C>A (p.Ser131Ter)
|
rs63749818
|
|
NM_000249.4(MLH1):c.392C>G (p.Ser131Ter)
|
rs63749818
|
|
NM_000249.4(MLH1):c.393_396del (p.Asp132fs)
|
rs1559521039
|
|
NM_000249.4(MLH1):c.393del (p.Asp132fs)
|
rs2081922847
|
|
NM_000249.4(MLH1):c.397G>T (p.Gly133Ter)
|
rs63751124
|
|
NM_000249.4(MLH1):c.402dup (p.Leu135fs)
|
|
|
NM_000249.4(MLH1):c.404_407del (p.Leu135fs)
|
rs587779014
|
|
NM_000249.4(MLH1):c.404dup (p.Lys136fs)
|
rs1553642079
|
|
NM_000249.4(MLH1):c.406A>T (p.Lys136Ter)
|
rs1575440595
|
|
NM_000249.4(MLH1):c.412_413dup (p.Pro139fs)
|
|
|
NM_000249.4(MLH1):c.416del (p.Pro139fs)
|
|
|
NM_000249.4(MLH1):c.418A>T (p.Lys140Ter)
|
|
|
NM_000249.4(MLH1):c.420del (p.Lys140fs)
|
rs587779015
|
|
NM_000249.4(MLH1):c.428del (p.Ala143fs)
|
|
|
NM_000249.4(MLH1):c.43del (p.Val15fs)
|
|
|
NM_000249.4(MLH1):c.445C>T (p.Gln149Ter)
|
rs63751302
|
|
NM_000249.4(MLH1):c.453+1G>A
|
rs267607750
|
|
NM_000249.4(MLH1):c.453+1G>C
|
rs267607750
|
|
NM_000249.4(MLH1):c.453+1G>T
|
rs267607750
|
|
NM_000249.4(MLH1):c.453+2T>A
|
|
|
NM_000249.4(MLH1):c.453+2T>C
|
rs267607751
|
|
NM_000249.4(MLH1):c.453+2T>G
|
rs267607751
|
|
NM_000249.4(MLH1):c.461del (p.Asp154fs)
|
|
|
NM_000249.4(MLH1):c.463del (p.Leu155fs)
|
rs2082049708
|
|
NM_000249.4(MLH1):c.469dup (p.Tyr157fs)
|
rs63751101
|
|
NM_000249.4(MLH1):c.471C>G (p.Tyr157Ter)
|
|
|
NM_000249.4(MLH1):c.47_53del (p.Val16fs)
|
rs876658923
|
|
NM_000249.4(MLH1):c.493del (p.Ala165fs)
|
rs1553642707
|
|
NM_000249.4(MLH1):c.497T>G (p.Leu166Ter)
|
rs267607755
|
|
NM_000249.4(MLH1):c.502_503del (p.Asn168fs)
|
rs63749959
|
|
NM_000249.4(MLH1):c.503del (p.Asn168fs)
|
rs63749959
|
|
NM_000249.4(MLH1):c.503dup (p.Asn168fs)
|
rs63749959
|
|
NM_000249.4(MLH1):c.514G>T (p.Glu172Ter)
|
rs1559524405
|
|
NM_000249.4(MLH1):c.519T>A (p.Tyr173Ter)
|
|
|
NM_000249.4(MLH1):c.526del (p.Ile176fs)
|
rs1575449093
|
|
NM_000249.4(MLH1):c.52_59del (p.Arg18fs)
|
rs2125694037
|
|
NM_000249.4(MLH1):c.52del (p.Arg18fs)
|
rs63749804
|
|
NM_000249.4(MLH1):c.532G>T (p.Glu178Ter)
|
rs1248251121
|
|
NM_000249.4(MLH1):c.532del (p.Glu178fs)
|
|
|
NM_000249.4(MLH1):c.545+1G>A
|
rs267607765
|
|
NM_000249.4(MLH1):c.545+1G>C
|
|
|
NM_000249.4(MLH1):c.545+1G>T
|
rs267607765
|
|
NM_000249.4(MLH1):c.545+2T>A
|
|
|
NM_000249.4(MLH1):c.545+2T>C
|
rs1575449402
|
|
NM_000249.4(MLH1):c.546-1G>A
|
rs587779022
|
|
NM_000249.4(MLH1):c.546-1G>C
|
rs587779022
|
|
NM_000249.4(MLH1):c.546-2A>C
|
rs267607759
|
|
NM_000249.4(MLH1):c.546-2A>G
|
rs267607759
|
|
NM_000249.4(MLH1):c.546-2A>T
|
rs267607759
|
|
NM_000249.4(MLH1):c.551C>G (p.Ser184Ter)
|
rs1064796057
|
|
NM_000249.4(MLH1):c.556del (p.His186fs)
|
|
|
NM_000249.4(MLH1):c.560dup (p.Asn187fs)
|
|
|
NM_000249.4(MLH1):c.562_581del (p.Asn187_Ala188insTer)
|
|
|
NM_000249.4(MLH1):c.562dup (p.Ala188fs)
|
|
|
NM_000249.4(MLH1):c.56del (p.Ile19fs)
|
|
|
NM_000249.4(MLH1):c.574_588+2del
|
rs587779023
|
|
NM_000249.4(MLH1):c.578C>G (p.Ser193Ter)
|
rs63751480
|
|
NM_000249.4(MLH1):c.582del (p.Lys196fs)
|
|
|
NM_000249.4(MLH1):c.583A>T (p.Lys195Ter)
|
rs863225383
|
|
NM_000249.4(MLH1):c.588+1G>A
|
|
|
NM_000249.4(MLH1):c.588+1G>T
|
rs267607772
|
|
NM_000249.4(MLH1):c.588+2T>A
|
rs587779024
|
|
NM_000249.4(MLH1):c.588+2T>C
|
|
|
NM_000249.4(MLH1):c.588+2T>G
|
rs587779024
|
|
NM_000249.4(MLH1):c.588+5G>A
|
rs267607768
|
|
NM_000249.4(MLH1):c.588+5G>C
|
rs267607768
|
|
NM_000249.4(MLH1):c.588del (p.Lys196fs)
|
rs63751653
|
|
NM_000249.4(MLH1):c.588dup (p.Gln197fs)
|
rs63751653
|
|
NM_000249.4(MLH1):c.589-1G>A
|
rs587779027
|
|
NM_000249.4(MLH1):c.589-1G>T
|
rs587779027
|
|
NM_000249.4(MLH1):c.589-2A>G
|
rs267607767
|
|
NM_000249.4(MLH1):c.589C>T (p.Gln197Ter)
|
rs1553644123
|
|
NM_000249.4(MLH1):c.592G>T (p.Gly198Ter)
|
rs2125808143
|
|
NM_000249.4(MLH1):c.597_598dup (p.Thr200fs)
|
|
|
NM_000249.4(MLH1):c.5C>A (p.Ser2Ter)
|
rs587779029
|
|
NM_000249.4(MLH1):c.620dup (p.Pro208fs)
|
|
|
NM_000249.4(MLH1):c.62_68delinsTT (p.Ala21fs)
|
|
|
NM_000249.4(MLH1):c.62del (p.Ala21fs)
|
|
|
NM_000249.4(MLH1):c.632del (p.Ala210_Ser211insTer)
|
rs1575469070
|
|
NM_000249.4(MLH1):c.63_76delinsCGCATT (p.Gly22fs)
|
|
|
NM_000249.4(MLH1):c.648del (p.Arg217fs)
|
|
|
NM_000249.4(MLH1):c.654dup (p.Ile219fs)
|
|
|
NM_000249.4(MLH1):c.665del (p.Asn222fs)
|
rs63750385
|
|
NM_000249.4(MLH1):c.672dup (p.Ser225Ter)
|
|
|
NM_000249.4(MLH1):c.673_676del (p.Ser225fs)
|
rs267607774
|
|
NM_000249.4(MLH1):c.673dup (p.Ser225fs)
|
rs1575469505
|
|
NM_000249.4(MLH1):c.676C>T (p.Arg226Ter)
|
rs63751615
|
|
NM_000249.4(MLH1):c.677+1G>A
|
rs267607778
|
|
NM_000249.4(MLH1):c.677+1G>T
|
rs267607778
|
|
NM_000249.4(MLH1):c.677+3A>T
|
rs267607780
|
|
NM_000249.4(MLH1):c.677+5G>A
|
rs587779034
|
|
NM_000249.4(MLH1):c.677G>A (p.Arg226Gln)
|
rs63751711
|
|
NM_000249.4(MLH1):c.679del (p.Glu227fs)
|
|
|
NM_000249.4(MLH1):c.67G>T (p.Glu23Ter)
|
rs63750823
|
|
NM_000249.4(MLH1):c.67del (p.Glu23fs)
|
rs63750822
|
|
NM_000249.4(MLH1):c.67dup (p.Glu23fs)
|
rs63750822
|
|
NM_000249.4(MLH1):c.688_691del (p.Glu230fs)
|
|
|
NM_000249.4(MLH1):c.699T>A (p.Cys233Ter)
|
rs764085979
|
|
NM_000249.4(MLH1):c.69del (p.Val24fs)
|
|
|
NM_000249.4(MLH1):c.700G>T (p.Glu234Ter)
|
|
|
NM_000249.4(MLH1):c.704del (p.Asp235fs)
|
|
|
NM_000249.4(MLH1):c.717del (p.Phe240fs)
|
rs1064794373
|
|
NM_000249.4(MLH1):c.71_75del (p.Val24fs)
|
rs1553637293
|
|
NM_000249.4(MLH1):c.727_730del (p.Asn243fs)
|
rs267607787
|
|
NM_000249.4(MLH1):c.734dup (p.Tyr245Ter)
|
|
|
NM_000249.4(MLH1):c.735C>G (p.Tyr245Ter)
|
rs1553645226
|
|
NM_000249.4(MLH1):c.735del (p.Gly244_Tyr245insTer)
|
|
|
NM_000249.4(MLH1):c.737del (p.Ile246fs)
|
|
|
NM_000249.4(MLH1):c.73del (p.Ile25fs)
|
rs63749839
|
|
NM_000249.4(MLH1):c.743del (p.Asn248fs)
|
|
|
NM_000249.4(MLH1):c.749_754delinsC (p.Asn250fs)
|
|
|
NM_000249.4(MLH1):c.753C>G (p.Tyr251Ter)
|
rs63750310
|
|
NM_000249.4(MLH1):c.755C>G (p.Ser252Ter)
|
rs63750198
|
|
NM_000249.4(MLH1):c.755del (p.Tyr251_Ser252insTer)
|
rs1064793172
|
|
NM_000249.4(MLH1):c.768del (p.Lys255_Cys256insTer)
|
|
|
NM_000249.4(MLH1):c.76C>T (p.Gln26Ter)
|
rs63749827
|
|
NM_000249.4(MLH1):c.776dup (p.Leu259fs)
|
|
|
NM_000249.4(MLH1):c.77del (p.Gln26fs)
|
rs1575376830
|
|
NM_000249.4(MLH1):c.783dup (p.Ile262fs)
|
rs1553645331
|
|
NM_000249.4(MLH1):c.790+1G>A
|
rs267607789
|
|
NM_000249.4(MLH1):c.790+1G>C
|
rs267607789
|
|
NM_000249.4(MLH1):c.790+1G>T
|
rs267607789
|
|
NM_000249.4(MLH1):c.790+2T>A
|
rs267607790
|
|
NM_000249.4(MLH1):c.790+2T>C
|
rs267607790
|
|
NM_000249.4(MLH1):c.790+2_790+24del
|
|
|
NM_000249.4(MLH1):c.790+2dup
|
rs267607791
|
|
NM_000249.4(MLH1):c.790+4A>G
|
rs267607786
|
|
NM_000249.4(MLH1):c.790+5G>A
|
rs267607771
|
|
NM_000249.4(MLH1):c.790+5G>T
|
rs267607771
|
|
NM_000249.4(MLH1):c.791-1G>A
|
rs267607795
|
|
NM_000249.4(MLH1):c.791-1G>T
|
rs267607795
|
|
NM_000249.4(MLH1):c.791-2A>G
|
rs267607794
|
|
NM_000249.4(MLH1):c.791-2A>T
|
rs267607794
|
|
NM_000249.4(MLH1):c.793del (p.Arg265fs)
|
rs863225384
|
|
NM_000249.4(MLH1):c.794_800del (p.Arg265fs)
|
rs876660458
|
|
NM_000249.4(MLH1):c.796del (p.Leu266fs)
|
rs1553646602
|
|
NM_000249.4(MLH1):c.804del (p.Glu268fs)
|
|
|
NM_000249.4(MLH1):c.808_811del (p.Thr270fs)
|
rs267607801
|
|
NM_000249.4(MLH1):c.809del (p.Thr270fs)
|
|
|
NM_000249.4(MLH1):c.80_86del (p.Arg27fs)
|
|
|
NM_000249.4(MLH1):c.815T>A (p.Leu272Ter)
|
rs63750584
|
|
NM_000249.4(MLH1):c.816del (p.Arg273fs)
|
rs2125837110
|
|
NM_000249.4(MLH1):c.822del (p.Ala275fs)
|
|
|
NM_000249.4(MLH1):c.828del (p.Ile276fs)
|
|
|
NM_000249.4(MLH1):c.832del (p.Thr278fs)
|
rs1064794122
|
|
NM_000249.4(MLH1):c.833_834dup (p.Val279fs)
|
rs1553646681
|
|
NM_000249.4(MLH1):c.849T>A (p.Tyr283Ter)
|
|
|
NM_000249.4(MLH1):c.84del (p.Ala29fs)
|
rs587779045
|
|
NM_000249.4(MLH1):c.860del (p.Asn287fs)
|
rs63750034
|
|
NM_000249.4(MLH1):c.860dup (p.Asn287fs)
|
rs63750034
|
|
NM_000249.4(MLH1):c.865del (p.His289fs)
|
|
|
NM_000249.4(MLH1):c.866_867del (p.His289fs)
|
rs587779047
|
|
NM_000249.4(MLH1):c.866_867dup (p.Pro290fs)
|
rs587779047
|
|
NM_000249.4(MLH1):c.883A>G (p.Ser295Gly)
|
rs63751598
|
|
NM_000249.4(MLH1):c.884+1G>A
|
rs1553646764
|
|
NM_000249.4(MLH1):c.884+1_884+2del
|
|
|
NM_000249.4(MLH1):c.884+1_884+2insATGGG
|
|
|
NM_000249.4(MLH1):c.887T>A (p.Leu296Ter)
|
|
|
NM_000249.4(MLH1):c.887T>G (p.Leu296Ter)
|
rs63750547
|
|
NM_000249.4(MLH1):c.887_890del (p.Ser295_Leu296insTer)
|
|
|
NM_000249.4(MLH1):c.888_890delinsC (p.Leu296fs)
|
|
|
NM_000249.4(MLH1):c.8del (p.Phe3fs)
|
|
|
NM_000249.4(MLH1):c.901C>T (p.Gln301Ter)
|
rs63750489
|
|
NM_000249.4(MLH1):c.911del (p.Asp304fs)
|
rs1553647969
|
|
NM_000249.4(MLH1):c.918del (p.Asn306fs)
|
rs876660214
|
|
NM_000249.4(MLH1):c.923del (p.His308fs)
|
|
|
NM_000249.4(MLH1):c.927dup (p.Thr310fs)
|
rs1553647995
|
|
NM_000249.4(MLH1):c.932del (p.Lys311fs)
|
|
|
NM_000249.4(MLH1):c.939dup (p.Val314fs)
|
rs63751259
|
|
NM_000249.4(MLH1):c.93del (p.Ile32fs)
|
|
|
NM_000249.4(MLH1):c.940del (p.Val314fs)
|
rs1553648023
|
|
NM_000249.4(MLH1):c.949del (p.Leu317fs)
|
rs1553648029
|
|
NM_000249.4(MLH1):c.94del (p.Ile32fs)
|
rs1064793607
|
|
NM_000249.4(MLH1):c.954del (p.His318fs)
|
rs63749926
|
|
NM_000249.4(MLH1):c.955G>T (p.Glu319Ter)
|
rs63750796
|
|
NM_000249.4(MLH1):c.957_959delinsT (p.Glu319fs)
|
rs1559544064
|
|
NM_000249.4(MLH1):c.958G>T (p.Glu320Ter)
|
rs1553648040
|
|
NM_000249.4(MLH1):c.958del (p.Glu320fs)
|
|
|
NM_000249.4(MLH1):c.960_964dup (p.Ile322fs)
|
rs1553648047
|
|
NM_000249.4(MLH1):c.961_962dup (p.Ser321fs)
|
rs878853794
|
|
NM_000249.4(MLH1):c.967del (p.Leu323fs)
|
|
|
NM_000249.4(MLH1):c.967dup (p.Leu323fs)
|
|
|
NM_000249.4(MLH1):c.970G>T (p.Glu324Ter)
|
rs1553648068
|
|
NM_000249.4(MLH1):c.970del (p.Glu324fs)
|
rs876658247
|
|
NM_000249.4(MLH1):c.971dup (p.Arg325fs)
|
rs587781554
|
|
NM_000249.4(MLH1):c.976del (p.Val326fs)
|
rs786204317
|
|
NM_000249.4(MLH1):c.976dup (p.Val326fs)
|
|
|
NM_000249.4(MLH1):c.978_979delinsTT (p.Gln327Ter)
|
|
|
NM_000249.4(MLH1):c.979C>T (p.Gln327Ter)
|
rs587782087
|
|
NM_000249.4(MLH1):c.982C>T (p.Gln328Ter)
|
rs587779058
|
|
NM_000249.4(MLH1):c.990del (p.Ile330fs)
|
|
|
NM_000249.4(MLH1):c.991G>T (p.Glu331Ter)
|
|
|
NM_000249.4(MLH1):c.992del (p.Glu331fs)
|
|
|
NM_000249.4(MLH1):c.994dup (p.Ser332fs)
|
|
|
NM_000249.4(MLH1):c.996del (p.Ser332fs)
|
|
|
NM_000249.4(MLH1):c.997_1000del (p.Lys333fs)
|
rs1553648149
|
|
NM_000249.4(MLH1):c.9_21del (p.Phe3fs)
|
rs1064795341
|
|
NM_000249.4(MLH1):c.9del (p.Phe3fs)
|
rs63750745
|
|
NM_000251.3(MSH2):c.1003del (p.Thr335fs)
|
rs1673074932
|
|
NM_000251.3(MSH2):c.1003dup (p.Thr335fs)
|
|
|
NM_000251.3(MSH2):c.1007_1010dup (p.Gln337fs)
|
|
|
NM_000251.3(MSH2):c.1007dup (p.Gln337fs)
|
rs587779064
|
|
NM_000251.3(MSH2):c.1008del (p.Gln337fs)
|
rs879253899
|
|
NM_000251.3(MSH2):c.1009C>T (p.Gln337Ter)
|
rs63750778
|
|
NM_000251.3(MSH2):c.1012G>T (p.Gly338Ter)
|
|
|
NM_000251.3(MSH2):c.1015C>T (p.Gln339Ter)
|
rs1558466577
|
|
NM_000251.3(MSH2):c.1018A>T (p.Arg340Ter)
|
|
|
NM_000251.3(MSH2):c.1018dup (p.Arg340fs)
|
rs63750703
|
|
NM_000251.3(MSH2):c.1023del (p.Val342fs)
|
rs864622340
|
|
NM_000251.3(MSH2):c.102dup (p.Arg35fs)
|
rs1672241024
|
|
NM_000251.3(MSH2):c.1030C>T (p.Gln344Ter)
|
rs63750245
|
|
NM_000251.3(MSH2):c.1030del (p.Gln344fs)
|
|
|
NM_000251.3(MSH2):c.1034G>A (p.Trp345Ter)
|
rs63751027
|
|
NM_000251.3(MSH2):c.1035G>A (p.Trp345Ter)
|
rs63750396
|
|
NM_000251.3(MSH2):c.1036_1037dup (p.Lys347fs)
|
|
|
NM_000251.3(MSH2):c.1042C>T (p.Gln348Ter)
|
rs979212552
|
|
NM_000251.3(MSH2):c.1042del (p.Gln348fs)
|
rs1553353233
|
|
NM_000251.3(MSH2):c.1049_1050del (p.Leu350fs)
|
|
|
NM_000251.3(MSH2):c.1051dup (p.Met351fs)
|
|
|
NM_000251.3(MSH2):c.1056_1057insCCAT (p.Lys353delinsProTer)
|
|
|
NM_000251.3(MSH2):c.1071_1072dup (p.Glu358fs)
|
rs1558466769
|
|
NM_000251.3(MSH2):c.1072dup (p.Glu358fs)
|
rs1558466769
|
|
NM_000251.3(MSH2):c.1076+1G>A
|
rs267607940
|
|
NM_000251.3(MSH2):c.1076+1G>T
|
rs267607940
|
|
NM_000251.3(MSH2):c.1076+2T>A
|
|
|
NM_000251.3(MSH2):c.1076+2T>G
|
|
|
NM_000251.3(MSH2):c.1076_1077dup (p.Leu360fs)
|
rs1114167858
|
|
NM_000251.3(MSH2):c.1077-1G>C
|
rs267607944
|
|
NM_000251.3(MSH2):c.1077-1G>T
|
rs267607944
|
|
NM_000251.3(MSH2):c.1077-2A>C
|
rs267607943
|
|
NM_000251.3(MSH2):c.1077-2A>G
|
rs267607943
|
|
NM_000251.3(MSH2):c.1077-2A>T
|
rs267607943
|
|
NM_000251.3(MSH2):c.1090G>T (p.Glu364Ter)
|
rs1558478136
|
|
NM_000251.3(MSH2):c.1098del (p.Phe366fs)
|
|
|
NM_000251.3(MSH2):c.10C>T (p.Gln4Ter)
|
rs878853797
|
|
NM_000251.3(MSH2):c.1115T>A (p.Leu372Ter)
|
|
|
NM_000251.3(MSH2):c.1115del (p.Glu371_Leu372insTer)
|
|
|
NM_000251.3(MSH2):c.1120C>T (p.Gln374Ter)
|
rs63750558
|
|
NM_000251.3(MSH2):c.1125_1126insAT (p.Leu376fs)
|
rs786203350
|
|
NM_000251.3(MSH2):c.1126_1127del (p.Leu376fs)
|
|
|
NM_000251.3(MSH2):c.1127T>G (p.Leu376Ter)
|
|
|
NM_000251.3(MSH2):c.1127del (p.Leu376fs)
|
|
|
NM_000251.3(MSH2):c.1129C>T (p.Gln377Ter)
|
rs63750267
|
|
NM_000251.3(MSH2):c.1139T>G (p.Leu380Ter)
|
rs730881755
|
|
NM_000251.3(MSH2):c.1140_1141del (p.Leu380fs)
|
|
|
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)
|
rs63749849
|
|
NM_000251.3(MSH2):c.1157dup (p.Asp386fs)
|
rs730881774
|
|
NM_000251.3(MSH2):c.1163dup (p.Asn388fs)
|
rs2104439295
|
|
NM_000251.3(MSH2):c.1164_1165delinsGT (p.Asn388_Arg389delinsLysTer)
|
|
|
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)
|
rs587779075
|
|
NM_000251.3(MSH2):c.1177A>T (p.Lys393Ter)
|
rs863225386
|
|
NM_000251.3(MSH2):c.1182del (p.Gln395fs)
|
|
|
NM_000251.3(MSH2):c.1183_1184insCAGTTTC (p.Gln395fs)
|
|
|
NM_000251.3(MSH2):c.1189C>T (p.Gln397Ter)
|
rs63750611
|
|
NM_000251.3(MSH2):c.1195del (p.Ala399fs)
|
|
|
NM_000251.3(MSH2):c.119del (p.Gly40fs)
|
rs63750984
|
|
NM_000251.3(MSH2):c.11_12delinsC (p.Gln4fs)
|
rs1558451119
|
|
NM_000251.3(MSH2):c.11dup (p.Pro5fs)
|
rs730881775
|
|
NM_000251.3(MSH2):c.1201_1202dup (p.Leu401fs)
|
rs869312768
|
|
NM_000251.3(MSH2):c.1201_1204del (p.Leu401fs)
|
rs1558478567
|
|
NM_000251.3(MSH2):c.1202dup (p.Leu401fs)
|
|
|
NM_000251.3(MSH2):c.1203_1204insTAA (p.Gln402Ter)
|
|
|
NM_000251.3(MSH2):c.1203dup (p.Gln402fs)
|
rs63750586
|
|
NM_000251.3(MSH2):c.1204C>T (p.Gln402Ter)
|
rs63751412
|
|
NM_000251.3(MSH2):c.1204del (p.Gln402fs)
|
rs63751413
|
|
NM_000251.3(MSH2):c.1215C>G (p.Tyr405Ter)
|
rs63751271
|
|
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)
|
rs63751108
|
|
NM_000251.3(MSH2):c.1216_1219dup (p.Leu407fs)
|
rs63751192
|
|
NM_000251.3(MSH2):c.1221_1222del (p.Tyr408fs)
|
rs587779076
|
|
NM_000251.3(MSH2):c.1221dup (p.Tyr408fs)
|
|
|
NM_000251.3(MSH2):c.1222dup (p.Tyr408fs)
|
rs63751142
|
|
NM_000251.3(MSH2):c.1224T>G (p.Tyr408Ter)
|
rs63750132
|
|
NM_000251.3(MSH2):c.1225C>T (p.Gln409Ter)
|
rs151244108
|
|
NM_000251.3(MSH2):c.1226_1227del (p.Gln409fs)
|
rs63750086
|
|
NM_000251.3(MSH2):c.1228_1240delinsTACAA (p.Gly410fs)
|
|
|
NM_000251.3(MSH2):c.1229del (p.Gly410fs)
|
rs1553356700
|
|
NM_000251.3(MSH2):c.122_140dup (p.Glu48fs)
|
|
|
NM_000251.3(MSH2):c.1230_1231insTT (p.Ile411fs)
|
|
|
NM_000251.3(MSH2):c.1237C>T (p.Gln413Ter)
|
rs863225387
|
|
NM_000251.3(MSH2):c.1237del (p.Gln413fs)
|
|
|
NM_000251.3(MSH2):c.1242_1248dup (p.Val417delinsThrTer)
|
|
|
NM_000251.3(MSH2):c.1246_1247delinsT (p.Asn416fs)
|
|
|
NM_000251.3(MSH2):c.1247_1257dup (p.Ala420fs)
|
rs1553356720
|
|
NM_000251.3(MSH2):c.1248_1253delinsATCA (p.Asn416fs)
|
|
|
NM_000251.3(MSH2):c.124_127dup (p.Tyr43fs)
|
rs587782561
|
|
NM_000251.3(MSH2):c.1251_1268delinsAGTT (p.Ile418fs)
|
rs863225388
|
|
NM_000251.3(MSH2):c.1255C>T (p.Gln419Ter)
|
rs63750006
|
|
NM_000251.3(MSH2):c.125_126delinsAA (p.Phe42Ter)
|
|
|
NM_000251.3(MSH2):c.1264G>T (p.Glu422Ter)
|
rs63751712
|
|
NM_000251.3(MSH2):c.1269_1270insG (p.His424fs)
|
|
|
NM_000251.3(MSH2):c.1269dup (p.His424fs)
|
rs63751667
|
|
NM_000251.3(MSH2):c.1270del (p.His424fs)
|
rs2104444013
|
|
NM_000251.3(MSH2):c.1276G>T (p.Gly426Ter)
|
|
|
NM_000251.3(MSH2):c.1279A>T (p.Lys427Ter)
|
|
|
NM_000251.3(MSH2):c.1281dup (p.His428fs)
|
|
|
NM_000251.3(MSH2):c.1285C>T (p.Gln429Ter)
|
rs63751693
|
|
NM_000251.3(MSH2):c.1285del (p.Gln429fs)
|
rs1114167833
|
|
NM_000251.3(MSH2):c.1287_1293del (p.Gln429fs)
|
|
|
NM_000251.3(MSH2):c.1293dup (p.Leu432fs)
|
rs1553361162
|
|
NM_000251.3(MSH2):c.1301del (p.Ala434fs)
|
|
|
NM_000251.3(MSH2):c.1302del (p.Val435fs)
|
rs863225389
|
|
NM_000251.3(MSH2):c.1308del (p.Phe436fs)
|
|
|
NM_000251.3(MSH2):c.1308dup (p.Val437fs)
|
rs1060502035
|
|
NM_000251.3(MSH2):c.1311_1312dup (p.Thr438fs)
|
|
|
NM_000251.3(MSH2):c.1318_1319del (p.Leu440fs)
|
rs587779083
|
|
NM_000251.3(MSH2):c.1321del (p.Thr441fs)
|
rs1675069387
|
|
NM_000251.3(MSH2):c.1321dup (p.Thr441fs)
|
rs63750807
|
|
NM_000251.3(MSH2):c.1323dup (p.Asp442Ter)
|
|
|
NM_000251.3(MSH2):c.1326_1333del (p.Asp442_Leu443insTer)
|
|
|
NM_000251.3(MSH2):c.1331_1334del (p.Arg444fs)
|
|
|
NM_000251.3(MSH2):c.1332_1333dup (p.Ser445fs)
|
|
|
NM_000251.3(MSH2):c.1339_1340del (p.Phe447fs)
|
rs1553361231
|
|
NM_000251.3(MSH2):c.1344del (p.Lys449fs)
|
rs876658918
|
|
NM_000251.3(MSH2):c.1345A>T (p.Lys449Ter)
|
rs63749920
|
|
NM_000251.3(MSH2):c.1351C>T (p.Gln451Ter)
|
rs786201066
|
|
NM_000251.3(MSH2):c.1352_1353del (p.Gln451fs)
|
rs63750957
|
|
NM_000251.3(MSH2):c.1354G>T (p.Glu452Ter)
|
rs267607954
|
|
NM_000251.3(MSH2):c.1354_1355insT (p.Glu452fs)
|
rs1114167850
|
|
NM_000251.3(MSH2):c.1354dup (p.Glu452fs)
|
|
|
NM_000251.3(MSH2):c.1357del (p.Glu452_Met453insTer)
|
|
|
NM_000251.3(MSH2):c.135del (p.His46fs)
|
|
|
NM_000251.3(MSH2):c.1363G>T (p.Glu455Ter)
|
|
|
NM_000251.3(MSH2):c.1363del (p.Glu455fs)
|
|
|
NM_000251.3(MSH2):c.1366del (p.Thr456fs)
|
|
|
NM_000251.3(MSH2):c.1367del (p.Thr456fs)
|
|
|
NM_000251.3(MSH2):c.1368_1369del (p.Thr457fs)
|
|
|
NM_000251.3(MSH2):c.136_164del (p.His46fs)
|
rs63751482
|
|
NM_000251.3(MSH2):c.1373T>G (p.Leu458Ter)
|
rs63750521
|
|
NM_000251.3(MSH2):c.1373del (p.Thr457_Leu458insTer)
|
rs1553361289
|
|
NM_000251.3(MSH2):c.1384C>T (p.Gln462Ter)
|
rs876657701
|
|
NM_000251.3(MSH2):c.1384dup (p.Gln462fs)
|
rs2103760063
|
|
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.1394del (p.Asn465fs)
|
rs863225390
|
|
NM_000251.3(MSH2):c.1396del (p.His466fs)
|
rs1558508067
|
|
NM_000251.3(MSH2):c.1399G>T (p.Glu467Ter)
|
rs587779089
|
|
NM_000251.3(MSH2):c.1401del (p.Glu467fs)
|
rs1553365711
|
|
NM_000251.3(MSH2):c.1404_1410del (p.Phe468fs)
|
rs878853802
|
|
NM_000251.3(MSH2):c.1405dup (p.Leu469fs)
|
|
|
NM_000251.3(MSH2):c.1408del (p.Leu469_Val470insTer)
|
rs63750384
|
|
NM_000251.3(MSH2):c.1413del (p.Lys471fs)
|
rs1553365719
|
|
NM_000251.3(MSH2):c.1415dup (p.Ser473fs)
|
rs1573547745
|
|
NM_000251.3(MSH2):c.1418C>G (p.Ser473Ter)
|
rs63751403
|
|
NM_000251.3(MSH2):c.1424dup (p.Asp475fs)
|
|
|
NM_000251.3(MSH2):c.1428del (p.Asn477fs)
|
rs2104086603
|
|
NM_000251.3(MSH2):c.142G>T (p.Glu48Ter)
|
rs63750615
|
|
NM_000251.3(MSH2):c.1433del (p.Leu478fs)
|
|
|
NM_000251.3(MSH2):c.1440dup (p.Leu481fs)
|
rs1666728055
|
|
NM_000251.3(MSH2):c.1442T>A (p.Leu481Ter)
|
rs786203036
|
|
NM_000251.3(MSH2):c.1444A>T (p.Arg482Ter)
|
rs587779092
|
|
NM_000251.3(MSH2):c.1444dup (p.Arg482fs)
|
rs63750068
|
|
NM_000251.3(MSH2):c.1457_1460del (p.Asn486fs)
|
rs1114167806
|
|
NM_000251.3(MSH2):c.1457_1460dup (p.Asp487delinsGluTer)
|
rs1114167806
|
|
NM_000251.3(MSH2):c.1462_1463del (p.Leu488fs)
|
rs876658834
|
|
NM_000251.3(MSH2):c.1465G>T (p.Glu489Ter)
|
rs876658187
|
|
NM_000251.3(MSH2):c.1470_1473delinsAAA (p.Met492fs)
|
rs1060502029
|
|
NM_000251.3(MSH2):c.1476_1477delinsCT (p.Met492_Gln493delinsIleTer)
|
rs63750583
|
|
NM_000251.3(MSH2):c.1477C>T (p.Gln493Ter)
|
rs63750936
|
|
NM_000251.3(MSH2):c.1481C>G (p.Ser494Ter)
|
rs370970617
|
|
NM_000251.3(MSH2):c.1486_1487dup (p.Leu496fs)
|
rs1573548065
|
|
NM_000251.3(MSH2):c.1487del (p.Thr495_Leu496insTer)
|
rs1573548065
|
|
NM_000251.3(MSH2):c.1487dup (p.Leu496fs)
|
|
|
NM_000251.3(MSH2):c.1491_1492insTT (p.Ser498fs)
|
rs1558508343
|
|
NM_000251.3(MSH2):c.1511del (p.Gly504Alafs)
|
rs2104170912
|
|
NM_000251.3(MSH2):c.1514dup (p.Leu505fs)
|
|
|
NM_000251.3(MSH2):c.1520del (p.Pro507fs)
|
rs1553366510
|
|
NM_000251.3(MSH2):c.1528C>T (p.Gln510Ter)
|
rs587779097
|
|
NM_000251.3(MSH2):c.1534A>T (p.Lys512Ter)
|
rs1573553178
|
|
NM_000251.3(MSH2):c.1534_1535delinsG (p.Lys512fs)
|
|
|
NM_000251.3(MSH2):c.1536del (p.Lys512fs)
|
|
|
NM_000251.3(MSH2):c.1552C>T (p.Gln518Ter)
|
rs63750780
|
|
NM_000251.3(MSH2):c.1552_1553del (p.Gln518fs)
|
rs63749930
|
|
NM_000251.3(MSH2):c.1557_1567delinsACACAG (p.Phe519fs)
|
|
|
NM_000251.3(MSH2):c.1563T>A (p.Tyr521Ter)
|
rs63750330
|
|
NM_000251.3(MSH2):c.1565_1568del (p.Tyr522fs)
|
rs1064793561
|
|
NM_000251.3(MSH2):c.1566C>A (p.Tyr522Ter)
|
rs63750224
|
|
NM_000251.3(MSH2):c.1566C>G (p.Tyr522Ter)
|
rs63750224
|
|
NM_000251.3(MSH2):c.1566del (p.Arg524fs)
|
|
|
NM_000251.3(MSH2):c.1570del (p.Arg524fs)
|
rs1064795653
|
|
NM_000251.3(MSH2):c.1576del (p.Thr526fs)
|
rs63750094
|
|
NM_000251.3(MSH2):c.1576dup (p.Thr526fs)
|
rs63750094
|
|
NM_000251.3(MSH2):c.1578del (p.Cys527fs)
|
rs63750738
|
|
NM_000251.3(MSH2):c.1587_1597delinsT (p.Glu529fs)
|
rs1114167820
|
|
NM_000251.3(MSH2):c.158_159dup (p.Ala54fs)
|
|
|
NM_000251.3(MSH2):c.1593del (p.Val532fs)
|
rs1558511051
|
|
NM_000251.3(MSH2):c.1597dup (p.Leu533fs)
|
|
|
NM_000251.3(MSH2):c.1600del (p.Arg534fs)
|
|
|
NM_000251.3(MSH2):c.1609A>T (p.Lys537Ter)
|
rs980244810
|
|
NM_000251.3(MSH2):c.160del (p.Ala54fs)
|
rs876660480
|
|
NM_000251.3(MSH2):c.1613del (p.Asn538fs)
|
rs1558511092
|
|
NM_000251.3(MSH2):c.1613dup (p.Asn538fs)
|
|
|
NM_000251.3(MSH2):c.1618del (p.Ser540fs)
|
rs1573553636
|
|
NM_000251.3(MSH2):c.1633C>T (p.Gln545Ter)
|
rs1666904987
|
|
NM_000251.3(MSH2):c.163del (p.Arg55fs)
|
rs63750337
|
|
NM_000251.3(MSH2):c.1643del (p.Gly548fs)
|
rs1666905944
|
|
NM_000251.3(MSH2):c.1649_1650del (p.Lys550fs)
|
rs1114167835
|
|
NM_000251.3(MSH2):c.1656del (p.Asn553fs)
|
rs1114167817
|
|
NM_000251.3(MSH2):c.1660A>G (p.Ser554Gly)
|
rs63751656
|
|
NM_000251.3(MSH2):c.1661+1G>A
|
rs267607969
|
|
NM_000251.3(MSH2):c.1661+1G>C
|
rs267607969
|
|
NM_000251.3(MSH2):c.1661+1G>T
|
rs267607969
|
|
NM_000251.3(MSH2):c.1661+2T>C
|
rs1553366680
|
|
NM_000251.3(MSH2):c.1661+2T>G
|
|
|
NM_000251.3(MSH2):c.1661G>A (p.Ser554Asn)
|
rs63750597
|
|
NM_000251.3(MSH2):c.1667T>A (p.Leu556Ter)
|
rs587779101
|
|
NM_000251.3(MSH2):c.166G>T (p.Glu56Ter)
|
rs587779102
|
|
NM_000251.3(MSH2):c.1670del (p.Thr557fs)
|
|
|
NM_000251.3(MSH2):c.1676T>G (p.Leu559Ter)
|
|
|
NM_000251.3(MSH2):c.1676del (p.Ser558_Leu559insTer)
|
rs63750633
|
|
NM_000251.3(MSH2):c.1679_1680insGA (p.Asn560fs)
|
|
|
NM_000251.3(MSH2):c.1679del (p.Asn560fs)
|
rs63750054
|
|
NM_000251.3(MSH2):c.1680dup (p.Glu561Ter)
|
rs2104274481
|
|
NM_000251.3(MSH2):c.1681G>T (p.Glu561Ter)
|
rs63750328
|
|
NM_000251.3(MSH2):c.1684G>T (p.Glu562Ter)
|
rs1114167816
|
|
NM_000251.3(MSH2):c.1687dup (p.Tyr563fs)
|
rs587779103
|
|
NM_000251.3(MSH2):c.1696_1702del (p.Asn566fs)
|
|
|
NM_000251.3(MSH2):c.1697del (p.Asn566fs)
|
rs63750737
|
|
NM_000251.3(MSH2):c.1697dup (p.Asn566fs)
|
|
|
NM_000251.3(MSH2):c.1698del (p.Asn566fs)
|
rs2104275987
|
|
NM_000251.3(MSH2):c.1700_1704del (p.Lys567fs)
|
rs63750474
|
|
NM_000251.3(MSH2):c.1702del (p.Thr568fs)
|
|
|
NM_000251.3(MSH2):c.1703_1704del (p.Thr568fs)
|
|
|
NM_000251.3(MSH2):c.1704del (p.Glu569fs)
|
rs1667076589
|
|
NM_000251.3(MSH2):c.1705_1706del (p.Glu569fs)
|
rs63750393
|
|
NM_000251.3(MSH2):c.1707del (p.Glu569fs)
|
|
|
NM_000251.3(MSH2):c.1714G>T (p.Glu572Ter)
|
|
|
NM_000251.3(MSH2):c.1714del (p.Glu572fs)
|
|
|
NM_000251.3(MSH2):c.1720C>T (p.Gln574Ter)
|
rs63751298
|
|
NM_000251.3(MSH2):c.1723del (p.Asp575fs)
|
|
|
NM_000251.3(MSH2):c.1731del (p.Ile577fs)
|
|
|
NM_000251.3(MSH2):c.1738G>T (p.Glu580Ter)
|
rs63751411
|
|
NM_000251.3(MSH2):c.1741del (p.Ile581fs)
|
rs63750141
|
|
NM_000251.3(MSH2):c.1744del (p.Val582fs)
|
rs587779964
|
|
NM_000251.3(MSH2):c.1747_1748del (p.Asn583fs)
|
rs1553367687
|
|
NM_000251.3(MSH2):c.1749dup (p.Ile584fs)
|
|
|
NM_000251.3(MSH2):c.1753del (p.Ser585fs)
|
rs63751433
|
|
NM_000251.3(MSH2):c.1757C>A (p.Ser586Ter)
|
|
|
NM_000251.3(MSH2):c.1757C>G (p.Ser586Ter)
|
rs1114167854
|
|
NM_000251.3(MSH2):c.1759G>C (p.Gly587Arg)
|
rs63751140
|
|
NM_000251.3(MSH2):c.1760-2_1783del
|
rs1064795329
|
|
NM_000251.3(MSH2):c.1770del (p.Glu590fs)
|
rs1573566217
|
|
NM_000251.3(MSH2):c.1777C>T (p.Gln593Ter)
|
rs63750200
|
|
NM_000251.3(MSH2):c.177_178insTACCCTTGGGGTACAAG (p.Thr60fs)
|
|
|
NM_000251.3(MSH2):c.1782dup (p.Leu595fs)
|
rs876658940
|
|
NM_000251.3(MSH2):c.1785dup (p.Asn596fs)
|
|
|
NM_000251.3(MSH2):c.1786_1788del (p.Asn596del)
|
rs63749831
|
|
NM_000251.3(MSH2):c.1793del (p.Val598fs)
|
rs786202790
|
|
NM_000251.3(MSH2):c.1796T>G (p.Leu599Ter)
|
|
|
NM_000251.3(MSH2):c.1801C>T (p.Gln601Ter)
|
rs63750047
|
|
NM_000251.3(MSH2):c.1802_1803dup (p.Leu602fs)
|
|
|
NM_000251.3(MSH2):c.1803dup (p.Leu602fs)
|
rs786203704
|
|
NM_000251.3(MSH2):c.1804_1805insAG (p.Leu602fs)
|
|
|
NM_000251.3(MSH2):c.181C>T (p.Gln61Ter)
|
rs63750951
|
|
NM_000251.3(MSH2):c.1827del (p.His610fs)
|
rs587779112
|
|
NM_000251.3(MSH2):c.182del (p.Gln61fs)
|
rs1553348882
|
|
NM_000251.3(MSH2):c.1835C>G (p.Ser612Ter)
|
rs63750493
|
|
NM_000251.3(MSH2):c.1838dup (p.Asn613fs)
|
rs1114167815
|
|
NM_000251.3(MSH2):c.1840G>T (p.Gly614Ter)
|
rs1380847972
|
|
NM_000251.3(MSH2):c.1853del (p.Pro618fs)
|
rs267607984
|
|
NM_000251.3(MSH2):c.1857T>G (p.Tyr619Ter)
|
rs63750312
|
|
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter)
|
rs63750508
|
|
NM_000251.3(MSH2):c.1862_1907del (p.Arg621fs)
|
|
|
NM_000251.3(MSH2):c.1865del (p.Pro622fs)
|
|
|
NM_000251.3(MSH2):c.1868_1876delinsTA (p.Ala623fs)
|
|
|
NM_000251.3(MSH2):c.1869del (p.Ile624fs)
|
|
|
NM_000251.3(MSH2):c.186_187dup (p.Val63fs)
|
rs63750160
|
|
NM_000251.3(MSH2):c.1876G>T (p.Glu626Ter)
|
rs1667240403
|
|
NM_000251.3(MSH2):c.187del (p.Gly62_Val63insTer)
|
rs63750160
|
|
NM_000251.3(MSH2):c.187dup (p.Val63fs)
|
rs63750160
|
|
NM_000251.3(MSH2):c.1881del (p.Gly628fs)
|
|
|
NM_000251.3(MSH2):c.1882G>T (p.Gly628Ter)
|
rs371776176
|
|
NM_000251.3(MSH2):c.1883del (p.Gly628fs)
|
rs1064795127
|
|
NM_000251.3(MSH2):c.1885C>T (p.Gln629Ter)
|
rs63750203
|
|
NM_000251.3(MSH2):c.1889del (p.Gly630fs)
|
|
|
NM_000251.3(MSH2):c.1897_1910delinsTAATATAATT (p.Ile633_Ser637delinsTer)
|
|
|
NM_000251.3(MSH2):c.1899_1900del (p.Leu634fs)
|
rs1573567022
|
|
NM_000251.3(MSH2):c.1901T>G (p.Leu634Ter)
|
rs1114167811
|
|
NM_000251.3(MSH2):c.1905dup (p.Ala636fs)
|
|
|
NM_000251.3(MSH2):c.1908_1923del (p.Ser637fs)
|
|
|
NM_000251.3(MSH2):c.1911del (p.Arg638fs)
|
rs63750893
|
|
NM_000251.3(MSH2):c.1915C>T (p.His639Tyr)
|
rs28929484
|
|
NM_000251.3(MSH2):c.1921del (p.Cys641fs)
|
rs1573567132
|
|
NM_000251.3(MSH2):c.1927del (p.Glu643fs)
|
rs1667245819
|
|
NM_000251.3(MSH2):c.1929dup (p.Val644fs)
|
rs1667245915
|
|
NM_000251.3(MSH2):c.192dup (p.Lys65fs)
|
rs1553348896
|
|
NM_000251.3(MSH2):c.1933C>T (p.Gln645Ter)
|
rs267607982
|
|
NM_000251.3(MSH2):c.1933del (p.Gln645fs)
|
|
|
NM_000251.3(MSH2):c.1939G>T (p.Glu647Ter)
|
rs63750078
|
|
NM_000251.3(MSH2):c.193A>T (p.Lys65Ter)
|
|
|
NM_000251.3(MSH2):c.1942_1945del (p.Ile648fs)
|
rs1553368675
|
|
NM_000251.3(MSH2):c.1942del (p.Ile648fs)
|
|
|
NM_000251.3(MSH2):c.1950dup (p.Ile651fs)
|
rs1114167844
|
|
NM_000251.3(MSH2):c.1954_1955del (p.Ile651_Pro652insTer)
|
|
|
NM_000251.3(MSH2):c.1963_1964del (p.Val655fs)
|
rs864622121
|
|
NM_000251.3(MSH2):c.1968C>A (p.Tyr656Ter)
|
rs63751317
|
|
NM_000251.3(MSH2):c.1968C>G (p.Tyr656Ter)
|
rs63751317
|
|
NM_000251.3(MSH2):c.1972G>T (p.Glu658Ter)
|
|
|
NM_000251.3(MSH2):c.1980_1981del (p.Asp660fs)
|
rs587779119
|
|
NM_000251.3(MSH2):c.1981A>T (p.Lys661Ter)
|
rs1553368707
|
|
NM_000251.3(MSH2):c.1983dup (p.Gln662fs)
|
|
|
NM_000251.3(MSH2):c.1984C>T (p.Gln662Ter)
|
rs786204321
|
|
NM_000251.3(MSH2):c.1989del (p.Met663fs)
|
rs1558518588
|
|
NM_000251.3(MSH2):c.198C>A (p.Tyr66Ter)
|
rs730881784
|
|
NM_000251.3(MSH2):c.2003del (p.Thr668fs)
|
rs1573567630
|
|
NM_000251.3(MSH2):c.2004delinsCA (p.Gly669fs)
|
rs876659961
|
|
NM_000251.3(MSH2):c.2006-7_2022del
|
rs2104367794
|
|
NM_000251.3(MSH2):c.2013del (p.Asn671fs)
|
rs1553368988
|
|
NM_000251.3(MSH2):c.2023A>T (p.Lys675Ter)
|
|
|
NM_000251.3(MSH2):c.2027C>A (p.Ser676Ter)
|
|
|
NM_000251.3(MSH2):c.2027C>G (p.Ser676Ter)
|
rs1057520735
|
|
NM_000251.3(MSH2):c.2038C>T (p.Arg680Ter)
|
rs63749932
|
|
NM_000251.3(MSH2):c.2041C>T (p.Gln681Ter)
|
rs730881762
|
|
NM_000251.3(MSH2):c.2045_2047delinsTT (p.Thr682fs)
|
rs1553369034
|
|
NM_000251.3(MSH2):c.2047G>C (p.Gly683Arg)
|
|
|
NM_000251.3(MSH2):c.204del (p.Pro69fs)
|
rs63750199
|
|
NM_000251.3(MSH2):c.206del (p.Pro69fs)
|
rs1553348904
|
|
NM_000251.3(MSH2):c.2082del (p.Phe694fs)
|
rs63750689
|
|
NM_000251.3(MSH2):c.2082dup (p.Val695fs)
|
|
|
NM_000251.3(MSH2):c.2091T>A (p.Cys697Ter)
|
rs63750872
|
|
NM_000251.3(MSH2):c.2091dup (p.Glu698Ter)
|
|
|
NM_000251.3(MSH2):c.2096C>A (p.Ser699Ter)
|
|
|
NM_000251.3(MSH2):c.2096C>G (p.Ser699Ter)
|
rs587779136
|
|
NM_000251.3(MSH2):c.20del (p.Glu7fs)
|
rs267607915
|
|
NM_000251.3(MSH2):c.2109del (p.Ile704fs)
|
|
|
NM_000251.3(MSH2):c.211+1G>A
|
|
|
NM_000251.3(MSH2):c.211+1G>C
|
rs1114167883
|
|
NM_000251.3(MSH2):c.211+1G>T
|
rs1114167883
|
|
NM_000251.3(MSH2):c.211+2T>G
|
|
|
NM_000251.3(MSH2):c.2113del (p.Val705fs)
|
rs63749811
|
|
NM_000251.3(MSH2):c.2116del (p.Asp706fs)
|
rs1553369131
|
|
NM_000251.3(MSH2):c.212-1G>A
|
rs267607914
|
|
NM_000251.3(MSH2):c.2127del (p.Ala710fs)
|
|
|
NM_000251.3(MSH2):c.2135dup (p.Gly713fs)
|
rs63751453
|
|
NM_000251.3(MSH2):c.2148del (p.Asp716fs)
|
rs1553369165
|
|
NM_000251.3(MSH2):c.2150del (p.Ser717fs)
|
|
|
NM_000251.3(MSH2):c.2152C>T (p.Gln718Ter)
|
rs587779139
|
|
NM_000251.3(MSH2):c.2161G>T (p.Gly721Ter)
|
rs1060502032
|
|
NM_000251.3(MSH2):c.2163dup (p.Val722fs)
|
|
|
NM_000251.3(MSH2):c.2166_2188dup (p.Leu730fs)
|
|
|
NM_000251.3(MSH2):c.2173_2174insGGAGT (p.Phe725fs)
|
|
|
NM_000251.3(MSH2):c.2179del (p.Ala727fs)
|
rs1573570621
|
|
NM_000251.3(MSH2):c.2191G>T (p.Glu731Ter)
|
rs63749802
|
|
NM_000251.3(MSH2):c.2194_2209dup (p.Arg737fs)
|
|
|
NM_000251.3(MSH2):c.2204del (p.Ile735fs)
|
rs63750572
|
|
NM_000251.3(MSH2):c.221del (p.Asn74fs)
|
|
|
NM_000251.3(MSH2):c.221dup (p.Asn74fs)
|
|
|
NM_000251.3(MSH2):c.2220_2223dup (p.Asp742fs)
|
rs1573573619
|
|
NM_000251.3(MSH2):c.2222_2223del (p.Lys741fs)
|
rs1667386244
|
|
NM_000251.3(MSH2):c.2222_2225del (p.Lys741fs)
|
|
|
NM_000251.3(MSH2):c.2228C>A (p.Ser743Ter)
|
rs63751155
|
|
NM_000251.3(MSH2):c.2228C>G (p.Ser743Ter)
|
rs63751155
|
|
NM_000251.3(MSH2):c.2236dup (p.Ile746fs)
|
rs863225392
|
|
NM_000251.3(MSH2):c.2237_2240del (p.Ile746fs)
|
|
|
NM_000251.3(MSH2):c.2240_2241del (p.Ile747fs)
|
rs63751036
|
|
NM_000251.3(MSH2):c.2245G>T (p.Glu749Ter)
|
rs63751477
|
|
NM_000251.3(MSH2):c.2246_2250del (p.Glu749fs)
|
rs1553369665
|
|
NM_000251.3(MSH2):c.224dup (p.Gln76fs)
|
|
|
NM_000251.3(MSH2):c.2254A>T (p.Arg752Ter)
|
|
|
NM_000251.3(MSH2):c.2257G>T (p.Gly753Ter)
|
|
|
NM_000251.3(MSH2):c.2263_2269del (p.Ser755fs)
|
|
|
NM_000251.3(MSH2):c.2263del (p.Ser755fs)
|
|
|
NM_000251.3(MSH2):c.226C>T (p.Gln76Ter)
|
rs63750042
|
|
NM_000251.3(MSH2):c.2271C>A (p.Tyr757Ter)
|
|
|
NM_000251.3(MSH2):c.2271C>G (p.Tyr757Ter)
|
rs56076152
|
|
NM_000251.3(MSH2):c.2275G>T (p.Gly759Ter)
|
rs63749854
|
|
NM_000251.3(MSH2):c.2285T>A (p.Leu762Ter)
|
|
|
NM_000251.3(MSH2):c.2291G>A (p.Trp764Ter)
|
rs587779143
|
|
NM_000251.3(MSH2):c.2295_2296insTA (p.Ile766Ter)
|
rs863225393
|
|
NM_000251.3(MSH2):c.2297del (p.Ile766fs)
|
rs863225394
|
|
NM_000251.3(MSH2):c.2298_2299dup (p.Ser767fs)
|
|
|
NM_000251.3(MSH2):c.229_230del (p.Ser77fs)
|
rs63749848
|
|
NM_000251.3(MSH2):c.2300C>G (p.Ser767Ter)
|
rs863225395
|
|
NM_000251.3(MSH2):c.2307C>A (p.Tyr769Ter)
|
|
|
NM_000251.3(MSH2):c.2307C>G (p.Tyr769Ter)
|
rs1573574086
|
|
NM_000251.3(MSH2):c.2322del (p.Ile774fs)
|
|
|
NM_000251.3(MSH2):c.2325dup (p.Ala776fs)
|
|
|
NM_000251.3(MSH2):c.232_233del (p.Val78fs)
|
|
|
NM_000251.3(MSH2):c.2332del (p.Cys778fs)
|
rs1573574188
|
|
NM_000251.3(MSH2):c.2333_2334delinsT (p.Cys778fs)
|
rs1114167872
|
|
NM_000251.3(MSH2):c.2334C>A (p.Cys778Ter)
|
rs63750618
|
|
NM_000251.3(MSH2):c.2335dup (p.Met779fs)
|
rs63750149
|
|
NM_000251.3(MSH2):c.2342del (p.Ala781fs)
|
|
|
NM_000251.3(MSH2):c.2347del (p.His783fs)
|
rs63750233
|
|
NM_000251.3(MSH2):c.2356G>T (p.Glu786Ter)
|
rs2104405386
|
|
NM_000251.3(MSH2):c.2361_2364dup (p.Ala789fs)
|
|
|
NM_000251.3(MSH2):c.2361del (p.Thr788fs)
|
rs63750803
|
|
NM_000251.3(MSH2):c.2362_2363delinsGCA (p.Thr788fs)
|
|
|
NM_000251.3(MSH2):c.2362dup (p.Thr788fs)
|
rs63750463
|
|
NM_000251.3(MSH2):c.2365del (p.Ala789fs)
|
|
|
NM_000251.3(MSH2):c.2374_2375del (p.Asn792fs)
|
|
|
NM_000251.3(MSH2):c.2375del (p.Asn792fs)
|
|
|
NM_000251.3(MSH2):c.2377C>T (p.Gln793Ter)
|
rs730881769
|
|
NM_000251.3(MSH2):c.2381_2385dup (p.Thr796fs)
|
rs1114167832
|
|
NM_000251.3(MSH2):c.2382_2403del (p.Ile794fs)
|
|
|
NM_000251.3(MSH2):c.2384del (p.Pro795fs)
|
|
|
NM_000251.3(MSH2):c.2386_2396del (p.Thr796fs)
|
rs2104406996
|
|
NM_000251.3(MSH2):c.2388del (p.Val797fs)
|
rs63749983
|
|
NM_000251.3(MSH2):c.2389_2390del (p.Thr796_Val797insTer)
|
rs1667398945
|
|
NM_000251.3(MSH2):c.2393_2396del (p.Asn798fs)
|
rs1114167826
|
|
NM_000251.3(MSH2):c.2396dup (p.Asn799fs)
|
|
|
NM_000251.3(MSH2):c.2397_2400del (p.Leu800fs)
|
|
|
NM_000251.3(MSH2):c.239_240dup (p.Ser81fs)
|
|
|
NM_000251.3(MSH2):c.239_243delinsAGATTTTGAATTTGA (p.Leu80fs)
|
|
|
NM_000251.3(MSH2):c.2413dup (p.Leu805fs)
|
rs1114167837
|
|
NM_000251.3(MSH2):c.2416dup (p.Thr806fs)
|
|
|
NM_000251.3(MSH2):c.2419dup (p.Thr807fs)
|
|
|
NM_000251.3(MSH2):c.241_262del (p.Ser81fs)
|
rs1672551053
|
|
NM_000251.3(MSH2):c.2420del (p.Thr807fs)
|
|
|
NM_000251.3(MSH2):c.2424_2428del (p.Glu808fs)
|
|
|
NM_000251.3(MSH2):c.2425G>T (p.Glu809Ter)
|
rs202145681
|
|
NM_000251.3(MSH2):c.2430del (p.Thr810_Leu811insTer)
|
|
|
NM_000251.3(MSH2):c.2432T>G (p.Leu811Ter)
|
rs63751018
|
|
NM_000251.3(MSH2):c.2434dup (p.Thr812fs)
|
|
|
NM_000251.3(MSH2):c.2437_2438dup (p.Met813fs)
|
|
|
NM_000251.3(MSH2):c.2437dup (p.Met813fs)
|
|
|
NM_000251.3(MSH2):c.2445T>A (p.Tyr815Ter)
|
rs1667403360
|
|
NM_000251.3(MSH2):c.2446C>T (p.Gln816Ter)
|
rs63749917
|
|
NM_000251.3(MSH2):c.2450_2451insC (p.Lys818fs)
|
|
|
NM_000251.3(MSH2):c.2460_2462delinsA (p.Val821fs)
|
|
|
NM_000251.3(MSH2):c.2461_2462del (p.Val821fs)
|
rs1114167828
|
|
NM_000251.3(MSH2):c.2466T>A (p.Cys822Ter)
|
rs63749846
|
|
NM_000251.3(MSH2):c.2466_2467del (p.Cys822_Asp823delinsTer)
|
rs63751621
|
|
NM_000251.3(MSH2):c.2470C>T (p.Gln824Ter)
|
rs63750623
|
|
NM_000251.3(MSH2):c.2472_2473del (p.Ser825fs)
|
rs1553370310
|
|
NM_000251.3(MSH2):c.2474del (p.Ser825fs)
|
rs1573578423
|
|
NM_000251.3(MSH2):c.247del (p.Lys82_Met83insTer)
|
|
|
NM_000251.3(MSH2):c.2485del (p.His829fs)
|
rs63751117
|
|
NM_000251.3(MSH2):c.2487_2493del (p.His829fs)
|
|
|
NM_000251.3(MSH2):c.2494G>T (p.Glu832Ter)
|
rs863225396
|
|
NM_000251.3(MSH2):c.2502_2508del (p.Asn835fs)
|
rs63751447
|
|
NM_000251.3(MSH2):c.2504_2505del (p.Asn835fs)
|
|
|
NM_000251.3(MSH2):c.251del (p.Asn84fs)
|
rs786202037
|
|
NM_000251.3(MSH2):c.2520_2521del (p.Ile841fs)
|
|
|
NM_000251.3(MSH2):c.2523dup (p.Glu842fs)
|
rs1553370366
|
|
NM_000251.3(MSH2):c.2525_2526del (p.Glu842fs)
|
rs587779148
|
|
NM_000251.3(MSH2):c.2529_2530del (p.Cys843_Ala844insTer)
|
rs63749975
|
|
NM_000251.3(MSH2):c.2533A>T (p.Lys845Ter)
|
rs63750571
|
|
NM_000251.3(MSH2):c.2536C>T (p.Gln846Ter)
|
rs63750857
|
|
NM_000251.3(MSH2):c.2548G>T (p.Glu850Ter)
|
|
|
NM_000251.3(MSH2):c.2554G>T (p.Glu852Ter)
|
|
|
NM_000251.3(MSH2):c.2557_2560dup (p.Phe854Ter)
|
|
|
NM_000251.3(MSH2):c.255dup (p.Glu86Ter)
|
rs63751158
|
|
NM_000251.3(MSH2):c.2562del (p.Gln855fs)
|
rs1114167836
|
|
NM_000251.3(MSH2):c.2563C>T (p.Gln855Ter)
|
rs1553370404
|
|
NM_000251.3(MSH2):c.2572G>T (p.Gly858Ter)
|
rs754533481
|
|
NM_000251.3(MSH2):c.2575G>T (p.Glu859Ter)
|
rs63749830
|
|
NM_000251.3(MSH2):c.2579C>A (p.Ser860Ter)
|
rs63750849
|
|
NM_000251.3(MSH2):c.2581C>T (p.Gln861Ter)
|
rs63750291
|
|
NM_000251.3(MSH2):c.2588_2589del (p.Gly862_Tyr863insTer)
|
|
|
NM_000251.3(MSH2):c.2588dup (p.Tyr863Ter)
|
rs1553370435
|
|
NM_000251.3(MSH2):c.2595dup (p.Met866fs)
|
|
|
NM_000251.3(MSH2):c.2599G>T (p.Glu867Ter)
|
|
|
NM_000251.3(MSH2):c.2601dup (p.Pro868fs)
|
|
|
NM_000251.3(MSH2):c.2613_2614delinsAT (p.Lys872Ter)
|
|
|
NM_000251.3(MSH2):c.2622T>A (p.Tyr874Ter)
|
rs587779152
|
|
NM_000251.3(MSH2):c.2626G>T (p.Glu876Ter)
|
rs1573579206
|
|
NM_000251.3(MSH2):c.2629del (p.Arg877fs)
|
rs886041613
|
|
NM_000251.3(MSH2):c.2633_2634del (p.Glu878fs)
|
rs63751618
|
|
NM_000251.3(MSH2):c.2634+1G>A
|
rs267608019
|
|
NM_000251.3(MSH2):c.2634+1G>T
|
rs267608019
|
|
NM_000251.3(MSH2):c.2634+2T>G
|
rs876660546
|
|
NM_000251.3(MSH2):c.2634G>A (p.Glu878=)
|
rs63751624
|
|
NM_000251.3(MSH2):c.2635C>T (p.Gln879Ter)
|
rs63751469
|
|
NM_000251.3(MSH2):c.263_264del (p.Phe88fs)
|
rs267607920
|
|
NM_000251.3(MSH2):c.2645_2654dup (p.Glu886fs)
|
|
|
NM_000251.3(MSH2):c.2647del (p.Ile883fs)
|
rs63750084
|
|
NM_000251.3(MSH2):c.2647dup (p.Ile883fs)
|
rs63750084
|
|
NM_000251.3(MSH2):c.2653C>T (p.Gln885Ter)
|
rs63750808
|
|
NM_000251.3(MSH2):c.2656G>T (p.Glu886Ter)
|
rs1230083633
|
|
NM_000251.3(MSH2):c.2662del (p.Leu888fs)
|
rs63751007
|
|
NM_000251.3(MSH2):c.267_268insCA (p.Lys90fs)
|
|
|
NM_000251.3(MSH2):c.280_281insG (p.Leu94fs)
|
|
|
NM_000251.3(MSH2):c.283dup (p.Val95fs)
|
|
|
NM_000251.3(MSH2):c.289C>T (p.Gln97Ter)
|
rs63750970
|
|
NM_000251.3(MSH2):c.28C>T (p.Gln10Ter)
|
rs63751099
|
|
NM_000251.3(MSH2):c.294T>A (p.Tyr98Ter)
|
rs763872353
|
|
NM_000251.3(MSH2):c.294T>G (p.Tyr98Ter)
|
|
|
NM_000251.3(MSH2):c.295A>T (p.Arg99Ter)
|
|
|
NM_000251.3(MSH2):c.301G>T (p.Glu101Ter)
|
rs63750318
|
|
NM_000251.3(MSH2):c.301del (p.Glu101fs)
|
|
|
NM_000251.3(MSH2):c.308del (p.Tyr103fs)
|
|
|
NM_000251.3(MSH2):c.309T>A (p.Tyr103Ter)
|
|
|
NM_000251.3(MSH2):c.321del (p.Gly108fs)
|
rs1573436948
|
|
NM_000251.3(MSH2):c.329del (p.Lys110fs)
|
|
|
NM_000251.3(MSH2):c.32T>A (p.Leu11Ter)
|
|
|
NM_000251.3(MSH2):c.331del (p.Ala111fs)
|
|
|
NM_000251.3(MSH2):c.332dup (p.Ser112fs)
|
|
|
NM_000251.3(MSH2):c.340G>T (p.Glu114Ter)
|
rs878853815
|
|
NM_000251.3(MSH2):c.347_350del (p.Asp116fs)
|
rs63750501
|
|
NM_000251.3(MSH2):c.34G>T (p.Glu12Ter)
|
rs917968387
|
|
NM_000251.3(MSH2):c.34dup (p.Glu12fs)
|
rs63750614
|
|
NM_000251.3(MSH2):c.350G>A (p.Trp117Ter)
|
rs786202083
|
|
NM_000251.3(MSH2):c.351G>A (p.Trp117Ter)
|
rs1558457486
|
|
NM_000251.3(MSH2):c.352_358del (p.Tyr118fs)
|
rs879254025
|
|
NM_000251.3(MSH2):c.354T>G (p.Tyr118Ter)
|
rs1553350250
|
|
NM_000251.3(MSH2):c.362del (p.Tyr121fs)
|
rs1114167831
|
|
NM_000251.3(MSH2):c.363T>A (p.Tyr121Ter)
|
|
|
NM_000251.3(MSH2):c.363T>G (p.Tyr121Ter)
|
rs63750458
|
|
NM_000251.3(MSH2):c.363_366dup (p.Ala123Ter)
|
|
|
NM_000251.3(MSH2):c.377del (p.Gly126fs)
|
rs2104017390
|
|
NM_000251.3(MSH2):c.380del (p.Asn127fs)
|
|
|
NM_000251.3(MSH2):c.385_388del (p.Gln130fs)
|
|
|
NM_000251.3(MSH2):c.387_388del (p.Gln130fs)
|
rs63750924
|
|
NM_000251.3(MSH2):c.388C>T (p.Gln130Ter)
|
rs1060501989
|
|
NM_000251.3(MSH2):c.388_389del (p.Gln130fs)
|
rs63750704
|
|
NM_000251.3(MSH2):c.394_395insTT (p.Glu132fs)
|
|
|
NM_000251.3(MSH2):c.408del (p.Phe136fs)
|
rs63750408
|
|
NM_000251.3(MSH2):c.413dup (p.Asn138fs)
|
|
|
NM_000251.3(MSH2):c.420dup (p.Met141fs)
|
rs1114167810
|
|
NM_000251.3(MSH2):c.421_422del (p.Met141fs)
|
rs1553350680
|
|
NM_000251.3(MSH2):c.425C>A (p.Ser142Ter)
|
rs63750910
|
|
NM_000251.3(MSH2):c.425C>G (p.Ser142Ter)
|
rs63750910
|
|
NM_000251.3(MSH2):c.443del (p.Val148fs)
|
rs1553350721
|
|
NM_000251.3(MSH2):c.445_448del (p.Gly149fs)
|
|
|
NM_000251.3(MSH2):c.448_449del (p.Gly149_Val150insTer)
|
|
|
NM_000251.3(MSH2):c.448_452del (p.Val150fs)
|
|
|
NM_000251.3(MSH2):c.450del (p.Met152fs)
|
|
|
NM_000251.3(MSH2):c.454dup (p.Met152fs)
|
rs63751449
|
|
NM_000251.3(MSH2):c.459del (p.Ala154fs)
|
rs2104023773
|
|
NM_000251.3(MSH2):c.463del (p.Val155fs)
|
rs1672664863
|
|
NM_000251.3(MSH2):c.465_466delinsA (p.Asp156fs)
|
rs1114167884
|
|
NM_000251.3(MSH2):c.466del (p.Asp156fs)
|
rs1573440880
|
|
NM_000251.3(MSH2):c.472C>T (p.Gln158Ter)
|
rs63751226
|
|
NM_000251.3(MSH2):c.478C>T (p.Gln160Ter)
|
rs63751426
|
|
NM_000251.3(MSH2):c.478_479del (p.Gln160fs)
|
rs2104025532
|
|
NM_000251.3(MSH2):c.484G>A (p.Gly162Arg)
|
rs63750624
|
|
NM_000251.3(MSH2):c.486_487del (p.Val163fs)
|
|
|
NM_000251.3(MSH2):c.491delinsAT (p.Gly164fs)
|
|
|
NM_000251.3(MSH2):c.493_499del (p.Tyr165fs)
|
|
|
NM_000251.3(MSH2):c.495T>G (p.Tyr165Ter)
|
rs63749949
|
|
NM_000251.3(MSH2):c.497dup (p.Asp167fs)
|
|
|
NM_000251.3(MSH2):c.508C>T (p.Gln170Ter)
|
rs63750843
|
|
NM_000251.3(MSH2):c.511_583dup (p.Gly195delinsGluGluThrArgThrValTer)
|
rs1553350789
|
|
NM_000251.3(MSH2):c.513del (p.Lys172fs)
|
rs63750933
|
|
NM_000251.3(MSH2):c.514A>T (p.Lys172Ter)
|
|
|
NM_000251.3(MSH2):c.525_532del (p.Cys176fs)
|
rs1114167877
|
|
NM_000251.3(MSH2):c.528_529del (p.Cys176_Glu177delinsTer)
|
rs587779164
|
|
NM_000251.3(MSH2):c.52_67del (p.Gly18fs)
|
|
|
NM_000251.3(MSH2):c.530_539del (p.Glu177fs)
|
|
|
NM_000251.3(MSH2):c.535_536del (p.Phe178_Pro179insTer)
|
rs1114167812
|
|
NM_000251.3(MSH2):c.547C>T (p.Gln183Ter)
|
rs63750037
|
|
NM_000251.3(MSH2):c.563del (p.Glu188fs)
|
rs1114167885
|
|
NM_000251.3(MSH2):c.568_569delinsG (p.Leu190fs)
|
|
|
NM_000251.3(MSH2):c.571del (p.Leu191fs)
|
|
|
NM_000251.3(MSH2):c.577C>T (p.Gln193Ter)
|
rs63751326
|
|
NM_000251.3(MSH2):c.587del (p.Pro196fs)
|
rs63750682
|
|
NM_000251.3(MSH2):c.592G>T (p.Glu198Ter)
|
rs587779166
|
|
NM_000251.3(MSH2):c.594_596dup (p.Cys199Ter)
|
|
|
NM_000251.3(MSH2):c.607G>T (p.Gly203Ter)
|
|
|
NM_000251.3(MSH2):c.610G>T (p.Gly204Ter)
|
rs63750574
|
|
NM_000251.3(MSH2):c.616_617del (p.Thr206fs)
|
|
|
NM_000251.3(MSH2):c.628_629del (p.Met210fs)
|
rs1553350966
|
|
NM_000251.3(MSH2):c.633del (p.Lys212fs)
|
rs1114167821
|
|
NM_000251.3(MSH2):c.636dup (p.Leu213fs)
|
rs1573442039
|
|
NM_000251.3(MSH2):c.643C>T (p.Gln215Ter)
|
rs63751274
|
|
NM_000251.3(MSH2):c.643_644del (p.Gln215fs)
|
rs1573442100
|
|
NM_000251.3(MSH2):c.643_646del (p.Arg214_Gln215insTer)
|
rs63751695
|
|
NM_000251.3(MSH2):c.647dup (p.Ile217fs)
|
|
|
NM_000251.3(MSH2):c.652C>T (p.Gln218Ter)
|
rs587779170
|
|
NM_000251.3(MSH2):c.655dup (p.Arg219fs)
|
rs1558461615
|
|
NM_000251.3(MSH2):c.656_664delinsATAGATAATTTCT (p.Arg219_Ile222delinsAsnArgTer)
|
|
|
NM_000251.3(MSH2):c.657_658del (p.Gly220fs)
|
|
|
NM_000251.3(MSH2):c.674del (p.Thr225fs)
|
|
|
NM_000251.3(MSH2):c.679A>T (p.Arg227Ter)
|
|
|
NM_000251.3(MSH2):c.680_683del (p.Arg227fs)
|
rs587782537
|
|
NM_000251.3(MSH2):c.686_687del (p.Lys229fs)
|
rs63749897
|
|
NM_000251.3(MSH2):c.687del (p.Ala230fs)
|
rs63749897
|
|
NM_000251.3(MSH2):c.687dup (p.Ala230fs)
|
rs63749897
|
|
NM_000251.3(MSH2):c.68_69del (p.Phe23fs)
|
|
|
NM_000251.3(MSH2):c.699del (p.Thr234fs)
|
|
|
NM_000251.3(MSH2):c.704_705del (p.Lys235fs)
|
rs281864944
|
|
NM_000251.3(MSH2):c.705del (p.Asp236fs)
|
rs281864944
|
|
NM_000251.3(MSH2):c.70C>T (p.Gln24Ter)
|
rs587779976
|
|
NM_000251.3(MSH2):c.712del (p.Tyr238fs)
|
|
|
NM_000251.3(MSH2):c.714T>G (p.Tyr238Ter)
|
rs369670665
|
|
NM_000251.3(MSH2):c.715C>T (p.Gln239Ter)
|
rs63750488
|
|
NM_000251.3(MSH2):c.715dup (p.Gln239fs)
|
|
|
NM_000251.3(MSH2):c.718del (p.Asp240fs)
|
rs2104104410
|
|
NM_000251.3(MSH2):c.725dup (p.Asn242fs)
|
rs587779176
|
|
NM_000251.3(MSH2):c.731T>A (p.Leu244Ter)
|
|
|
NM_000251.3(MSH2):c.731_734dup (p.Leu245fs)
|
|
|
NM_000251.3(MSH2):c.731del (p.Leu244fs)
|
rs876660655
|
|
NM_000251.3(MSH2):c.738del (p.Gly247fs)
|
rs2104106456
|
|
NM_000251.3(MSH2):c.746_747del (p.Lys249fs)
|
|
|
NM_000251.3(MSH2):c.746del (p.Lys249fs)
|
rs63749832
|
|
NM_000251.3(MSH2):c.746dup (p.Glu251fs)
|
rs63749832
|
|
NM_000251.3(MSH2):c.748G>T (p.Gly250Ter)
|
rs864622183
|
|
NM_000251.3(MSH2):c.748_751del (p.Gly250fs)
|
|
|
NM_000251.3(MSH2):c.74del (p.Gly25fs)
|
|
|
NM_000251.3(MSH2):c.754C>T (p.Gln252Ter)
|
rs63750347
|
|
NM_000251.3(MSH2):c.758dup (p.Met253fs)
|
|
|
NM_000251.3(MSH2):c.75del (p.Met26fs)
|
rs1553348760
|
|
NM_000251.3(MSH2):c.762_763del (p.Asn254fs)
|
|
|
NM_000251.3(MSH2):c.762dup (p.Ser255Ter)
|
|
|
NM_000251.3(MSH2):c.773T>A (p.Leu258Ter)
|
|
|
NM_000251.3(MSH2):c.778G>T (p.Glu260Ter)
|
|
|
NM_000251.3(MSH2):c.790C>T (p.Gln264Ter)
|
rs878853824
|
|
NM_000251.3(MSH2):c.792+1G>A
|
rs267607934
|
|
NM_000251.3(MSH2):c.792+1G>C
|
rs267607934
|
|
NM_000251.3(MSH2):c.792+1G>T
|
|
|
NM_000251.3(MSH2):c.792+1_792+2inv
|
|
|
NM_000251.3(MSH2):c.792+1del
|
rs1064794155
|
|
NM_000251.3(MSH2):c.792+2T>C
|
rs587782408
|
|
NM_000251.3(MSH2):c.792+2T>G
|
rs587782408
|
|
NM_000251.3(MSH2):c.7del (p.Val3fs)
|
|
|
NM_000251.3(MSH2):c.803C>A (p.Ser268Ter)
|
rs563410947
|
|
NM_000251.3(MSH2):c.803C>G (p.Ser268Ter)
|
|
|
NM_000251.3(MSH2):c.806C>A (p.Ser269Ter)
|
rs63750058
|
|
NM_000251.3(MSH2):c.810_811del (p.Ser271fs)
|
rs63751133
|
|
NM_000251.3(MSH2):c.811_814del (p.Ser271fs)
|
rs587779185
|
|
NM_000251.3(MSH2):c.812_813del (p.Ser271fs)
|
rs1573451108
|
|
NM_000251.3(MSH2):c.817del (p.Ala272_Val273insTer)
|
rs1672945766
|
|
NM_000251.3(MSH2):c.82G>T (p.Glu28Ter)
|
rs63751246
|
|
NM_000251.3(MSH2):c.830T>A (p.Leu277Ter)
|
rs786203424
|
|
NM_000251.3(MSH2):c.830T>G (p.Leu277Ter)
|
rs786203424
|
|
NM_000251.3(MSH2):c.832G>T (p.Glu278Ter)
|
rs1558464008
|
|
NM_000251.3(MSH2):c.839T>G (p.Leu280Ter)
|
|
|
NM_000251.3(MSH2):c.839del (p.Leu280fs)
|
rs63750091
|
|
NM_000251.3(MSH2):c.840dup (p.Ser281fs)
|
|
|
NM_000251.3(MSH2):c.842C>G (p.Ser281Ter)
|
rs63749991
|
|
NM_000251.3(MSH2):c.850dup (p.Ser284fs)
|
rs1114167860
|
|
NM_000251.3(MSH2):c.859G>T (p.Gly287Ter)
|
rs63750276
|
|
NM_000251.3(MSH2):c.860dup (p.Gln288fs)
|
rs193922375
|
|
NM_000251.3(MSH2):c.862C>T (p.Gln288Ter)
|
rs63750097
|
|
NM_000251.3(MSH2):c.867del (p.Phe289fs)
|
rs1672951706
|
|
NM_000251.3(MSH2):c.868G>T (p.Glu290Ter)
|
rs587779190
|
|
NM_000251.3(MSH2):c.870_874del (p.Glu290fs)
|
rs1114167848
|
|
NM_000251.3(MSH2):c.871_872dup (p.Leu291_Thr292insTer)
|
|
|
NM_000251.3(MSH2):c.871del (p.Glu290_Leu291insTer)
|
rs1064794809
|
|
NM_000251.3(MSH2):c.873_876del (p.Thr292fs)
|
rs587779191
|
|
NM_000251.3(MSH2):c.876dup (p.Thr293fs)
|
rs1553352505
|
|
NM_000251.3(MSH2):c.87_90del (p.Thr31fs)
|
rs1060502000
|
|
NM_000251.3(MSH2):c.880_881insA (p.Phe294fs)
|
|
|
NM_000251.3(MSH2):c.882del (p.Phe294fs)
|
rs63751115
|
|
NM_000251.3(MSH2):c.887_891delinsACTTTTTCAGTATATGACTACTTTTGACTACTTTTT (p.Phe296_Ser297delinsTyrPhePheSerIleTer)
|
rs1573451662
|
|
NM_000251.3(MSH2):c.892C>T (p.Gln298Ter)
|
rs63750934
|
|
NM_000251.3(MSH2):c.897T>A (p.Tyr299Ter)
|
|
|
NM_000251.3(MSH2):c.897T>G (p.Tyr299Ter)
|
rs879254104
|
|
NM_000251.3(MSH2):c.898_899dup (p.Met300fs)
|
rs63750885
|
|
NM_000251.3(MSH2):c.89del (p.Pro30fs)
|
|
|
NM_000251.3(MSH2):c.901A>T (p.Lys301Ter)
|
rs63749915
|
|
NM_000251.3(MSH2):c.905T>A (p.Leu302Ter)
|
rs63749914
|
|
NM_000251.3(MSH2):c.912dup (p.Ala305fs)
|
rs863224833
|
|
NM_000251.3(MSH2):c.913dup (p.Ala305fs)
|
rs786203604
|
|
NM_000251.3(MSH2):c.914_923del (p.Ala305fs)
|
rs1672955848
|
|
NM_000251.3(MSH2):c.915_922dup (p.Arg308fs)
|
rs63750046
|
|
NM_000251.3(MSH2):c.920_923del (p.Val307fs)
|
rs2104179024
|
|
NM_000251.3(MSH2):c.922dup (p.Arg308fs)
|
|
|
NM_000251.3(MSH2):c.932_933insGA (p.Asn311fs)
|
|
|
NM_000251.3(MSH2):c.932del (p.Asn311fs)
|
rs587779979
|
|
NM_000251.3(MSH2):c.932dup (p.Asn311fs)
|
|
|
NM_000251.3(MSH2):c.934_938dup (p.Gln314fs)
|
|
|
NM_000251.3(MSH2):c.934del (p.Leu312fs)
|
rs267607937
|
|
NM_000251.3(MSH2):c.939del (p.Gln314fs)
|
rs796532309
|
|
NM_000251.3(MSH2):c.93dup (p.Thr32fs)
|
|
|
NM_000251.3(MSH2):c.940C>T (p.Gln314Ter)
|
rs1114167845
|
|
NM_000251.3(MSH2):c.940_942+2del
|
|
|
NM_000251.3(MSH2):c.942+1G>A
|
rs587779193
|
|
NM_000251.3(MSH2):c.942+1G>C
|
|
|
NM_000251.3(MSH2):c.942+1G>T
|
rs587779193
|
|
NM_000251.3(MSH2):c.942+2T>C
|
rs587779195
|
|
NM_000251.3(MSH2):c.942+2T>G
|
rs587779195
|
|
NM_000251.3(MSH2):c.942+3A>C
|
rs193922376
|
|
NM_000251.3(MSH2):c.942G>A (p.Gln314=)
|
rs587779197
|
|
NM_000251.3(MSH2):c.943-1G>A
|
rs12476364
|
|
NM_000251.3(MSH2):c.943-1G>C
|
rs12476364
|
|
NM_000251.3(MSH2):c.943-1G>T
|
rs12476364
|
|
NM_000251.3(MSH2):c.943-2A>G
|
rs587779198
|
|
NM_000251.3(MSH2):c.948del (p.Val317fs)
|
|
|
NM_000251.3(MSH2):c.958_959del (p.Thr320fs)
|
rs1673067879
|
|
NM_000251.3(MSH2):c.959_962del (p.Thr320fs)
|
rs1114167825
|
|
NM_000251.3(MSH2):c.965dup (p.Ser323fs)
|
|
|
NM_000251.3(MSH2):c.968_971dup (p.Gln324fs)
|
rs1673070318
|
|
NM_000251.3(MSH2):c.970C>T (p.Gln324Ter)
|
rs63750502
|
|
NM_000251.3(MSH2):c.970_971del (p.Gln324fs)
|
rs63751044
|
|
NM_000251.3(MSH2):c.989dup (p.Asn331fs)
|
rs1114167813
|
|
NM_000251.3(MSH2):c.997T>C (p.Cys333Arg)
|
rs63750468
|
|
NM_000251.3(MSH2):c.998_999del (p.Lys332_Cys333insTer)
|
rs2104247018
|
|
NM_000251.3(MSH2):c.998_999dup (p.Lys334fs)
|
|
|
NM_000251.3(MSH2):c.998del (p.Cys333fs)
|
|
|
NM_000251.3(MSH2):c.999dup (p.Lys334Ter)
|
rs2104247370
|
|
NM_000277.3(PAH):c.1315+2T>C
|
rs1799970
|
|
NM_000277.3(PAH):c.722G>A (p.Arg241His)
|
rs62508730
|
|
NM_000286.3(PEX12):c.888_889del (p.Leu297fs)
|
rs398123301
|
|
NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter)
|
rs121909231
|
|
NM_000314.8(PTEN):c.1003_1019del (p.Arg335fs)
|
|
|
NM_000314.8(PTEN):c.1006dup (p.Tyr336fs)
|
rs1554825631
|
|
NM_000314.8(PTEN):c.1007dup (p.Tyr336Ter)
|
rs2132283619
|
|
NM_000314.8(PTEN):c.1008C>A (p.Tyr336Ter)
|
|
|
NM_000314.8(PTEN):c.1008C>G (p.Tyr336Ter)
|
rs786201816
|
|
NM_000314.8(PTEN):c.1010_1014del (p.Phe337fs)
|
|
|
NM_000314.8(PTEN):c.1012del (p.Ser338fs)
|
rs1564568660
|
|
NM_000314.8(PTEN):c.1016_1017del (p.Pro339fs)
|
|
|
NM_000314.8(PTEN):c.1019del (p.Asn340fs)
|
|
|
NM_000314.8(PTEN):c.1024A>T (p.Lys342Ter)
|
|
|
NM_000314.8(PTEN):c.107del (p.Gly36fs)
|
|
|
NM_000314.8(PTEN):c.118G>T (p.Glu40Ter)
|
rs869312778
|
|
NM_000314.8(PTEN):c.121A>T (p.Arg41Ter)
|
|
|
NM_000314.8(PTEN):c.122_135del (p.Arg41fs)
|
|
|
NM_000314.8(PTEN):c.131dup (p.Val45fs)
|
rs1564814541
|
|
NM_000314.8(PTEN):c.143_146del (p.Asn48fs)
|
|
|
NM_000314.8(PTEN):c.143del (p.Asn48fs)
|
|
|
NM_000314.8(PTEN):c.148_149dup (p.Asp51fs)
|
|
|
NM_000314.8(PTEN):c.157delinsTA (p.Val53fs)
|
|
|
NM_000314.8(PTEN):c.164+1G>A
|
rs1554893835
|
|
NM_000314.8(PTEN):c.164+1G>T
|
rs1554893835
|
|
NM_000314.8(PTEN):c.164+1_164+9delinsTTAC
|
|
|
NM_000314.8(PTEN):c.164+2T>A
|
|
|
NM_000314.8(PTEN):c.170del (p.Leu57fs)
|
|
|
NM_000314.8(PTEN):c.170dup (p.Leu57fs)
|
|
|
NM_000314.8(PTEN):c.176C>G (p.Ser59Ter)
|
rs1060500116
|
|
NM_000314.8(PTEN):c.17_18del (p.Lys6fs)
|
rs121913290
|
|
NM_000314.8(PTEN):c.188del (p.Asn63fs)
|
rs1554897267
|
|
NM_000314.8(PTEN):c.195C>A (p.Tyr65Ter)
|
rs878853936
|
|
NM_000314.8(PTEN):c.195C>G (p.Tyr65Ter)
|
rs878853936
|
|
NM_000314.8(PTEN):c.19G>T (p.Glu7Ter)
|
rs1554890335
|
|
NM_000314.8(PTEN):c.201dup (p.Tyr68fs)
|
rs2132232362
|
|
NM_000314.8(PTEN):c.204C>G (p.Tyr68Ter)
|
rs773176120
|
|
NM_000314.8(PTEN):c.211delT (p.Cys71fs)
|
|
|
NM_000314.8(PTEN):c.21_22del (p.Glu7fs)
|
rs786204881
|
|
NM_000314.8(PTEN):c.223_227dup (p.Asp77fs)
|
|
|
NM_000314.8(PTEN):c.225_226insG (p.Tyr76fs)
|
|
|
NM_000314.8(PTEN):c.227_228del (p.His75_Tyr76insTer)
|
|
|
NM_000314.8(PTEN):c.228T>A (p.Tyr76Ter)
|
|
|
NM_000314.8(PTEN):c.228T>G (p.Tyr76Ter)
|
rs1554897866
|
|
NM_000314.8(PTEN):c.234del (p.Ala79fs)
|
|
|
NM_000314.8(PTEN):c.240del (p.Lys80fs)
|
|
|
NM_000314.8(PTEN):c.243_245delinsAT (p.Phe81fs)
|
|
|
NM_000314.8(PTEN):c.250A>T (p.Arg84Ter)
|
rs1554897880
|
|
NM_000314.8(PTEN):c.253+1G>A
|
rs587776667
|
|
NM_000314.8(PTEN):c.253+1G>C
|
rs587776667
|
|
NM_000314.8(PTEN):c.253+1G>T
|
rs587776667
|
|
NM_000314.8(PTEN):c.259C>T (p.Gln87Ter)
|
rs1554898053
|
|
NM_000314.8(PTEN):c.264T>A (p.Tyr88Ter)
|
rs1554898056
|
|
NM_000314.8(PTEN):c.264T>G (p.Tyr88Ter)
|
|
|
NM_000314.8(PTEN):c.270del (p.Phe90fs)
|
rs1114167678
|
|
NM_000314.8(PTEN):c.271G>T (p.Glu91Ter)
|
|
|
NM_000314.8(PTEN):c.281dup (p.Asn94fs)
|
|
|
NM_000314.8(PTEN):c.287dup (p.Gln97fs)
|
|
|
NM_000314.8(PTEN):c.29del (p.Ser10fs)
|
|
|
NM_000314.8(PTEN):c.300dup (p.Ile101fs)
|
rs1554898083
|
|
NM_000314.8(PTEN):c.301_310del (p.Ile101fs)
|
|
|
NM_000314.8(PTEN):c.302_304delinsCC (p.Ile101fs)
|
|
|
NM_000314.8(PTEN):c.304_308dup (p.Phe104fs)
|
rs1554898085
|
|
NM_000314.8(PTEN):c.306del (p.Lys102fs)
|
rs587782641
|
|
NM_000314.8(PTEN):c.312_316del (p.Phe104fs)
|
|
|
NM_000314.8(PTEN):c.314dup (p.Cys105fs)
|
|
|
NM_000314.8(PTEN):c.315_316dup (p.Glu106fs)
|
rs1554898090
|
|
NM_000314.8(PTEN):c.315dup (p.Glu106Ter)
|
rs1554898091
|
|
NM_000314.8(PTEN):c.31A>T (p.Arg11Ter)
|
|
|
NM_000314.8(PTEN):c.320A>T (p.Asp107Val)
|
rs786204858
|
|
NM_000314.8(PTEN):c.323T>C (p.Leu108Pro)
|
rs1064793243
|
|
NM_000314.8(PTEN):c.324del (p.Asp109fs)
|
|
|
NM_000314.8(PTEN):c.328C>T (p.Gln110Ter)
|
rs1114167629
|
|
NM_000314.8(PTEN):c.332G>A (p.Trp111Ter)
|
|
|
NM_000314.8(PTEN):c.333G>A (p.Trp111Ter)
|
rs1554898097
|
|
NM_000314.8(PTEN):c.335T>G (p.Leu112Arg)
|
|
|
NM_000314.8(PTEN):c.339_343del (p.Ser113fs)
|
|
|
NM_000314.8(PTEN):c.340G>T (p.Glu114Ter)
|
|
|
NM_000314.8(PTEN):c.352_353delinsG (p.His118fs)
|
|
|
NM_000314.8(PTEN):c.357_359delinsAT (p.Val119_Ala120insTer)
|
|
|
NM_000314.8(PTEN):c.370_445dup (p.Gln149delinsLeuTer)
|
|
|
NM_000314.8(PTEN):c.370del (p.Cys124fs)
|
rs1554898123
|
|
NM_000314.8(PTEN):c.371G>C (p.Cys124Ser)
|
|
|
NM_000314.8(PTEN):c.372_394del (p.Cys124fs)
|
|
|
NM_000314.8(PTEN):c.376G>C (p.Ala126Pro)
|
rs1554898129
|
|
NM_000314.8(PTEN):c.379G>T (p.Gly127Ter)
|
rs587781255
|
|
NM_000314.8(PTEN):c.380delinsAA (p.Gly127fs)
|
|
|
NM_000314.8(PTEN):c.386del (p.Gly129fs)
|
rs1554898139
|
|
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln)
|
rs121909229
|
|
NM_000314.8(PTEN):c.389del (p.Arg130fs)
|
rs121913292
|
|
NM_000314.8(PTEN):c.397del (p.Gly132_Val133insTer)
|
|
|
NM_000314.8(PTEN):c.400del (p.Val133_Met134insTer)
|
|
|
NM_000314.8(PTEN):c.405_406del (p.Ile135fs)
|
|
|
NM_000314.8(PTEN):c.405dup (p.Cys136fs)
|
rs398123323
|
|
NM_000314.8(PTEN):c.40del (p.Arg14fs)
|
|
|
NM_000314.8(PTEN):c.414T>G (p.Tyr138Ter)
|
rs1554898161
|
|
NM_000314.8(PTEN):c.416_419del (p.Leu139fs)
|
|
|
NM_000314.8(PTEN):c.416del (p.Leu139fs)
|
rs1554898163
|
|
NM_000314.8(PTEN):c.419T>A (p.Leu140Ter)
|
|
|
NM_000314.8(PTEN):c.421_422del (p.His141fs)
|
|
|
NM_000314.8(PTEN):c.436_437del (p.Leu146fs)
|
|
|
NM_000314.8(PTEN):c.43A>T (p.Arg15Ter)
|
rs2132145750
|
|
NM_000314.8(PTEN):c.442dup (p.Ala148fs)
|
|
|
NM_000314.8(PTEN):c.444dup (p.Gln149fs)
|
|
|
NM_000314.8(PTEN):c.445C>T (p.Gln149Ter)
|
rs1060500122
|
|
NM_000314.8(PTEN):c.448G>T (p.Glu150Ter)
|
rs786204934
|
|
NM_000314.8(PTEN):c.44_45delinsT (p.Arg15fs)
|
|
|
NM_000314.8(PTEN):c.44_45dup (p.Tyr16fs)
|
rs1057524874
|
|
NM_000314.8(PTEN):c.451_484del (p.Ala151fs)
|
|
|
NM_000314.8(PTEN):c.454_469del (p.Leu152fs)
|
|
|
NM_000314.8(PTEN):c.458dup (p.Asp153fs)
|
|
|
NM_000314.8(PTEN):c.469G>T (p.Glu157Ter)
|
rs121909220
|
|
NM_000314.8(PTEN):c.469dup (p.Glu157fs)
|
rs1554898210
|
|
NM_000314.8(PTEN):c.46dup (p.Tyr16fs)
|
rs786204883
|
|
NM_000314.8(PTEN):c.472_473del (p.Val158fs)
|
|
|
NM_000314.8(PTEN):c.47dup (p.Tyr16Ter)
|
rs876661009
|
|
NM_000314.8(PTEN):c.483_492del (p.Asp162fs)
|
|
|
NM_000314.8(PTEN):c.486_487del (p.Asp162fs)
|
rs1554898231
|
|
NM_000314.8(PTEN):c.487A>T (p.Lys163Ter)
|
rs1554898235
|
|
NM_000314.8(PTEN):c.48T>A (p.Tyr16Ter)
|
rs587782187
|
|
NM_000314.8(PTEN):c.48T>G (p.Tyr16Ter)
|
rs587782187
|
|
NM_000314.8(PTEN):c.490A>T (p.Lys164Ter)
|
|
|
NM_000314.8(PTEN):c.490_491del (p.Lys164fs)
|
rs786204900
|
|
NM_000314.8(PTEN):c.490_491dup (p.Gly165fs)
|
|
|
NM_000314.8(PTEN):c.491del (p.Lys164fs)
|
rs786204900
|
|
NM_000314.8(PTEN):c.491dup (p.Val166fs)
|
|
|
NM_000314.8(PTEN):c.493G>T (p.Gly165Ter)
|
rs587782603
|
|
NM_000314.8(PTEN):c.499del (p.Thr167fs)
|
|
|
NM_000314.8(PTEN):c.49C>T (p.Gln17Ter)
|
rs786204910
|
|
NM_000314.8(PTEN):c.503_539del (p.Ile168fs)
|
|
|
NM_000314.8(PTEN):c.504_522del (p.Ile168fs)
|
|
|
NM_000314.8(PTEN):c.507del (p.Ser170fs)
|
rs587776673
|
|
NM_000314.8(PTEN):c.508A>C (p.Ser170Arg)
|
rs1554900534
|
|
NM_000314.8(PTEN):c.50_51del (p.Gln17fs)
|
rs587781912
|
|
NM_000314.8(PTEN):c.510T>G (p.Ser170Arg)
|
rs121909221
|
|
NM_000314.8(PTEN):c.510_513del (p.Ser170fs)
|
|
|
NM_000314.8(PTEN):c.511C>T (p.Gln171Ter)
|
rs786204864
|
|
NM_000314.8(PTEN):c.517_523del (p.Arg173fs)
|
|
|
NM_000314.8(PTEN):c.518_519dup (p.Tyr174fs)
|
|
|
NM_000314.8(PTEN):c.51dup (p.Glu18fs)
|
|
|
NM_000314.8(PTEN):c.528_529dup (p.Tyr177fs)
|
|
|
NM_000314.8(PTEN):c.529dup (p.Tyr177fs)
|
|
|
NM_000314.8(PTEN):c.537_538del (p.Ser179fs)
|
|
|
NM_000314.8(PTEN):c.540C>A (p.Tyr180Ter)
|
|
|
NM_000314.8(PTEN):c.540C>G (p.Tyr180Ter)
|
rs786202733
|
|
NM_000314.8(PTEN):c.543_547delinsAT (p.Leu182_Lys183delinsTer)
|
|
|
NM_000314.8(PTEN):c.545_564del (p.Leu181_Leu182insTer)
|
|
|
NM_000314.8(PTEN):c.546_547insT (p.Lys183Ter)
|
|
|
NM_000314.8(PTEN):c.548dup (p.Asn184fs)
|
rs1554900593
|
|
NM_000314.8(PTEN):c.551_560del (p.Asn184fs)
|
|
|
NM_000314.8(PTEN):c.55_70del (p.Asp19fs)
|
|
|
NM_000314.8(PTEN):c.55dup (p.Asp19fs)
|
|
|
NM_000314.8(PTEN):c.565A>T (p.Arg189Ter)
|
rs1554900615
|
|
NM_000314.8(PTEN):c.570dup (p.Val191fs)
|
|
|
NM_000314.8(PTEN):c.571del (p.Val191fs)
|
|
|
NM_000314.8(PTEN):c.581del (p.Leu194fs)
|
|
|
NM_000314.8(PTEN):c.583_586del (p.Phe195fs)
|
|
|
NM_000314.8(PTEN):c.58_61del (p.Gly20fs)
|
|
|
NM_000314.8(PTEN):c.599_600del (p.Met199_Phe200insTer)
|
|
|
NM_000314.8(PTEN):c.606_610dup (p.Pro204fs)
|
|
|
NM_000314.8(PTEN):c.607del (p.Ile203fs)
|
|
|
NM_000314.8(PTEN):c.607dup (p.Ile203fs)
|
|
|
NM_000314.8(PTEN):c.60dup (p.Phe21fs)
|
rs2132145926
|
|
NM_000314.8(PTEN):c.611del (p.Pro204fs)
|
|
|
NM_000314.8(PTEN):c.614del (p.Met205fs)
|
|
|
NM_000314.8(PTEN):c.617del (p.Phe206fs)
|
|
|
NM_000314.8(PTEN):c.621_622insACTG (p.Gly208fs)
|
|
|
NM_000314.8(PTEN):c.625G>T (p.Gly209Ter)
|
rs765433422
|
|
NM_000314.8(PTEN):c.629del (p.Thr210fs)
|
rs1060500114
|
|
NM_000314.8(PTEN):c.632dup (p.Cys211fs)
|
rs1114167663
|
|
NM_000314.8(PTEN):c.633C>A (p.Cys211Ter)
|
rs121909232
|
|
NM_000314.8(PTEN):c.638del (p.Pro213fs)
|
|
|
NM_000314.8(PTEN):c.639_640delinsCT (p.Gln214Ter)
|
|
|
NM_000314.8(PTEN):c.639_640dup (p.Gln214fs)
|
|
|
NM_000314.8(PTEN):c.640C>T (p.Gln214Ter)
|
rs121909227
|
|
NM_000314.8(PTEN):c.644_647del (p.Phe215fs)
|
|
|
NM_000314.8(PTEN):c.647_648del (p.Val216fs)
|
|
|
NM_000314.8(PTEN):c.648_649insACCG (p.Val217fs)
|
|
|
NM_000314.8(PTEN):c.654C>A (p.Cys218Ter)
|
rs1554825165
|
|
NM_000314.8(PTEN):c.655C>T (p.Gln219Ter)
|
|
|
NM_000314.8(PTEN):c.661_683del (p.Lys221fs)
|
|
|
NM_000314.8(PTEN):c.664_691dup (p.Pro231fs)
|
|
|
NM_000314.8(PTEN):c.664del (p.Lys221_Val222insTer)
|
|
|
NM_000314.8(PTEN):c.667A>T (p.Lys223Ter)
|
rs1085308049
|
|
NM_000314.8(PTEN):c.672del (p.Tyr225fs)
|
rs1564566774
|
|
NM_000314.8(PTEN):c.675T>A (p.Tyr225Ter)
|
|
|
NM_000314.8(PTEN):c.675T>G (p.Tyr225Ter)
|
rs1057520900
|
|
NM_000314.8(PTEN):c.676del (p.Ser226fs)
|
|
|
NM_000314.8(PTEN):c.686C>A (p.Ser229Ter)
|
|
|
NM_000314.8(PTEN):c.688G>T (p.Gly230Ter)
|
|
|
NM_000314.8(PTEN):c.694dup (p.Thr232fs)
|
|
|
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter)
|
rs121909219
|
|
NM_000314.8(PTEN):c.698dup (p.Arg234fs)
|
|
|
NM_000314.8(PTEN):c.69_79delAGACTTGACCT (p.Asp24fs)
|
|
|
NM_000314.8(PTEN):c.700_709dup (p.Lys237fs)
|
|
|
NM_000314.8(PTEN):c.703del (p.Glu235fs)
|
|
|
NM_000314.8(PTEN):c.705del (p.Asp236fs)
|
rs1554825202
|
|
NM_000314.8(PTEN):c.70G>T (p.Asp24Tyr)
|
rs786201995
|
|
NM_000314.8(PTEN):c.713del (p.Phe238fs)
|
|
|
NM_000314.8(PTEN):c.720C>A (p.Tyr240Ter)
|
|
|
NM_000314.8(PTEN):c.720_721insCA (p.Phe241fs)
|
rs1554825206
|
|
NM_000314.8(PTEN):c.723del (p.Phe241fs)
|
rs1060500115
|
|
NM_000314.8(PTEN):c.723dup (p.Glu242Ter)
|
rs1060500115
|
|
NM_000314.8(PTEN):c.724G>T (p.Glu242Ter)
|
|
|
NM_000314.8(PTEN):c.728del (p.Phe243fs)
|
|
|
NM_000314.8(PTEN):c.731del (p.Pro244fs)
|
|
|
NM_000314.8(PTEN):c.732_733insGG (p.Gln245fs)
|
|
|
NM_000314.8(PTEN):c.732_781del (p.Gln245fs)
|
|
|
NM_000314.8(PTEN):c.733C>T (p.Gln245Ter)
|
rs786202918
|
|
NM_000314.8(PTEN):c.737_738insT (p.Leu247fs)
|
|
|
NM_000314.8(PTEN):c.737del (p.Pro246fs)
|
|
|
NM_000314.8(PTEN):c.739_742delinsGG (p.Leu247fs)
|
|
|
NM_000314.8(PTEN):c.73_74del (p.Leu25fs)
|
|
|
NM_000314.8(PTEN):c.741dup (p.Pro248fs)
|
rs587782341
|
|
NM_000314.8(PTEN):c.743del (p.Pro248fs)
|
|
|
NM_000314.8(PTEN):c.750_751insC (p.Gly251fs)
|
rs1860548195
|
|
NM_000314.8(PTEN):c.759del (p.Lys254_Val255insTer)
|
|
|
NM_000314.8(PTEN):c.75_76del (p.Leu25fs)
|
|
|
NM_000314.8(PTEN):c.784_788del (p.Asn262fs)
|
|
|
NM_000314.8(PTEN):c.789del (p.Met264fs)
|
|
|
NM_000314.8(PTEN):c.799_800del (p.Lys267fs)
|
|
|
NM_000314.8(PTEN):c.799_800insTT (p.Lys267fs)
|
rs1860552294
|
|
NM_000314.8(PTEN):c.800del (p.Lys267fs)
|
rs121913289
|
|
NM_000314.8(PTEN):c.800dup (p.Asp268fs)
|
|
|
NM_000314.8(PTEN):c.802-1G>C
|
|
|
NM_000314.8(PTEN):c.802-1G>T
|
rs1257124719
|
|
NM_000314.8(PTEN):c.802-2A>G
|
rs587782455
|
|
NM_000314.8(PTEN):c.802-6_802-2delinsG
|
|
|
NM_000314.8(PTEN):c.806_831del (p.Lys269fs)
|
|
|
NM_000314.8(PTEN):c.808del (p.Met270fs)
|
|
|
NM_000314.8(PTEN):c.81T>A (p.Tyr27Ter)
|
|
|
NM_000314.8(PTEN):c.820del (p.Trp274fs)
|
|
|
NM_000314.8(PTEN):c.820dup (p.Trp274fs)
|
|
|
NM_000314.8(PTEN):c.822G>A (p.Trp274Ter)
|
rs587782607
|
|
NM_000314.8(PTEN):c.829dup (p.Thr277fs)
|
rs1589665640
|
|
NM_000314.8(PTEN):c.833_834delinsAA (p.Phe278Ter)
|
|
|
NM_000314.8(PTEN):c.833del (p.Phe278fs)
|
|
|
NM_000314.8(PTEN):c.83_84insCTAT (p.Pro30fs)
|
|
|
NM_000314.8(PTEN):c.841_851del (p.Pro281fs)
|
|
|
NM_000314.8(PTEN):c.846_847del (p.Pro283fs)
|
|
|
NM_000314.8(PTEN):c.84_87del (p.Tyr29fs)
|
|
|
NM_000314.8(PTEN):c.850_860del (p.Glu284fs)
|
|
|
NM_000314.8(PTEN):c.853G>T (p.Glu285Ter)
|
|
|
NM_000314.8(PTEN):c.867del (p.Lys289_Val290insTer)
|
|
|
NM_000314.8(PTEN):c.867dup (p.Val290fs)
|
|
|
NM_000314.8(PTEN):c.868_892del (p.Val290fs)
|
|
|
NM_000314.8(PTEN):c.871G>T (p.Glu291Ter)
|
|
|
NM_000314.8(PTEN):c.874_877dup (p.Gly293fs)
|
|
|
NM_000314.8(PTEN):c.875del (p.Asn292fs)
|
rs786204905
|
|
NM_000314.8(PTEN):c.875dup (p.Asn292fs)
|
rs786204905
|
|
NM_000314.8(PTEN):c.876_880del (p.Asn292fs)
|
|
|
NM_000314.8(PTEN):c.877G>T (p.Gly293Ter)
|
rs878853944
|
|
NM_000314.8(PTEN):c.877_923dup (p.Arg308_Ala309insGluValTyrValIleLysLysSerIleAlaPheAlaValTer)
|
|
|
NM_000314.8(PTEN):c.880dup (p.Ser294fs)
|
|
|
NM_000314.8(PTEN):c.883_884del (p.Leu295fs)
|
|
|
NM_000314.8(PTEN):c.884dup (p.Cys296fs)
|
rs587780006
|
|
NM_000314.8(PTEN):c.885_886del (p.Leu295_Cys296insTer)
|
rs1564568350
|
|
NM_000314.8(PTEN):c.888T>A (p.Cys296Ter)
|
rs1589665853
|
|
NM_000314.8(PTEN):c.894dup (p.Glu299fs)
|
|
|
NM_000314.8(PTEN):c.895G>T (p.Glu299Ter)
|
rs1114167674
|
|
NM_000314.8(PTEN):c.904_910del (p.Ser302fs)
|
|
|
NM_000314.8(PTEN):c.910_934del (p.Cys304fs)
|
|
|
NM_000314.8(PTEN):c.919G>T (p.Glu307Ter)
|
rs746930141
|
|
NM_000314.8(PTEN):c.922del (p.Arg308fs)
|
|
|
NM_000314.8(PTEN):c.924_928dup (p.Asp310fs)
|
|
|
NM_000314.8(PTEN):c.930delinsAA (p.Asp310fs)
|
|
|
NM_000314.8(PTEN):c.932del (p.Asn311fs)
|
|
|
NM_000314.8(PTEN):c.940del (p.Glu314fs)
|
|
|
NM_000314.8(PTEN):c.945T>A (p.Tyr315Ter)
|
rs876661058
|
|
NM_000314.8(PTEN):c.949del (p.Val317fs)
|
rs876658837
|
|
NM_000314.8(PTEN):c.951dup (p.Leu318fs)
|
|
|
NM_000314.8(PTEN):c.955_958del (p.Leu318_Thr319insTer)
|
rs146650273
|
|
NM_000314.8(PTEN):c.955dup (p.Thr319fs)
|
rs786204892
|
|
NM_000314.8(PTEN):c.956_959del (p.Thr319fs)
|
rs398123330
|
|
NM_000314.8(PTEN):c.956_960del (p.Thr319fs)
|
rs1589666094
|
|
NM_000314.8(PTEN):c.958_959insG (p.Leu320fs)
|
|
|
NM_000314.8(PTEN):c.959T>A (p.Leu320Ter)
|
rs1114167667
|
|
NM_000314.8(PTEN):c.959T>G (p.Leu320Ter)
|
rs1114167667
|
|
NM_000314.8(PTEN):c.959del (p.Thr319_Leu320insTer)
|
rs1114167682
|
|
NM_000314.8(PTEN):c.959dup (p.Leu320fs)
|
|
|
NM_000314.8(PTEN):c.966_967delinsG (p.Asn323fs)
|
|
|
NM_000314.8(PTEN):c.968del (p.Asn323fs)
|
rs121913291
|
|
NM_000314.8(PTEN):c.968dup (p.Asn323fs)
|
rs121913291
|
|
NM_000314.8(PTEN):c.969del (p.Asn323fs)
|
|
|
NM_000314.8(PTEN):c.975_982del (p.Asp326fs)
|
|
|
NM_000314.8(PTEN):c.97_98del (p.Ile33fs)
|
rs876658171
|
|
NM_000314.8(PTEN):c.986del (p.Asn329fs)
|
|
|
NM_000314.8(PTEN):c.987_990del (p.Asn329fs)
|
rs587782304
|
|
NM_000314.8(PTEN):c.987_990dup (p.Asp331Ter)
|
|
|
NM_000314.8(PTEN):c.988_1014delinsTATCCATATAGATAATTTAACTGA (p.Lys330_Ser338delinsTyrProTyrArgTer)
|
|
|
NM_000314.8(PTEN):c.990del (p.Asp331fs)
|
|
|
NM_000314.8(PTEN):c.999dup (p.Asn334fs)
|
|
|
NM_000352.6(ABCC8):c.4160_4162del (p.Phe1387del)
|
rs151344624
|
|
NM_000368.5(TSC1):c.129delinsAA (p.Asn43fs)
|
|
|
NM_000368.5(TSC1):c.2073_2074delinsTT (p.Arg692Ter)
|
|
|
NM_000368.5(TSC1):c.2074C>T (p.Arg692Ter)
|
rs118203631
|
|
NM_000368.5(TSC1):c.2453del (p.Asn818fs)
|
|
|
NM_000368.5(TSC1):c.2488C>T (p.Gln830Ter)
|
rs1564475884
|
|
NM_000368.5(TSC1):c.2509_2512del (p.Asn837fs)
|
rs118203707
|
|
NM_000368.5(TSC1):c.555C>A (p.Tyr185Ter)
|
rs118203398
|
|
NM_000368.5(TSC1):c.7C>T (p.Gln3Ter)
|
|
|
NM_000368.5(TSC1):c.989dup (p.Ser331fs)
|
rs118203478
|
|
NM_000370.3(TTPA):c.744del (p.Glu249fs)
|
rs397515377
|
|
NM_000383.4(AIRE):c.254A>G (p.Tyr85Cys)
|
rs179363882
|
|
NM_000383.4(AIRE):c.967_979del (p.Leu323fs)
|
rs386833675
|
|
NM_000455.5(STK11):c.766G>T (p.Glu256Ter)
|
rs1057520606
|
|
NM_000455.5(STK11):c.862+1G>A
|
|
|
NM_000465.4(BARD1):c.1002del (p.Arg335fs)
|
rs1694972839
|
|
NM_000465.4(BARD1):c.100dup (p.Trp34fs)
|
rs1553628410
|
|
NM_000465.4(BARD1):c.101G>A (p.Trp34Ter)
|
|
|
NM_000465.4(BARD1):c.1021dup (p.Leu341fs)
|
rs1553622300
|
|
NM_000465.4(BARD1):c.1023del (p.Ser342fs)
|
rs876660061
|
|
NM_000465.4(BARD1):c.102G>A (p.Trp34Ter)
|
rs879254280
|
|
NM_000465.4(BARD1):c.1037dup (p.Asp346fs)
|
|
|
NM_000465.4(BARD1):c.103del (p.Ala35fs)
|
|
|
NM_000465.4(BARD1):c.103dup (p.Ala35fs)
|
|
|
NM_000465.4(BARD1):c.1048C>T (p.Gln350Ter)
|
rs2106109048
|
|
NM_000465.4(BARD1):c.105_135del (p.His36fs)
|
|
|
NM_000465.4(BARD1):c.1061C>G (p.Ser354Ter)
|
rs786202559
|
|
NM_000465.4(BARD1):c.1069del (p.Ile357fs)
|
|
|
NM_000465.4(BARD1):c.1069dup (p.Ile357fs)
|
rs2106108903
|
|
NM_000465.4(BARD1):c.1086T>A (p.Cys362Ter)
|
|
|
NM_000465.4(BARD1):c.1124del (p.Thr375fs)
|
|
|
NM_000465.4(BARD1):c.1134_1136delinsC (p.Arg378fs)
|
|
|
NM_000465.4(BARD1):c.1139del (p.Asn380fs)
|
|
|
NM_000465.4(BARD1):c.1156G>T (p.Glu386Ter)
|
rs1553622218
|
|
NM_000465.4(BARD1):c.1168_1169insG (p.Leu390fs)
|
|
|
NM_000465.4(BARD1):c.1187_1196delinsTTG (p.Pro396fs)
|
rs1694949382
|
|
NM_000465.4(BARD1):c.1196T>G (p.Leu399Ter)
|
rs1172609046
|
|
NM_000465.4(BARD1):c.1210del (p.Tyr404fs)
|
rs1694947319
|
|
NM_000465.4(BARD1):c.1224_1227del (p.Met408fs)
|
rs1553622164
|
|
NM_000465.4(BARD1):c.1227_1231del (p.Ser410fs)
|
rs1553622160
|
|
NM_000465.4(BARD1):c.1240del (p.Ala413_Met414insTer)
|
rs1553622145
|
|
NM_000465.4(BARD1):c.1250del (p.Leu417fs)
|
|
|
NM_000465.4(BARD1):c.1255_1256del (p.Asn419fs)
|
|
|
NM_000465.4(BARD1):c.1264_1267delinsATG (p.Val422fs)
|
rs786203533
|
|
NM_000465.4(BARD1):c.1270del (p.Arg424fs)
|
rs876660911
|
|
NM_000465.4(BARD1):c.1281_1284del (p.Gly428fs)
|
rs1553622103
|
|
NM_000465.4(BARD1):c.1291_1292del (p.Leu431fs)
|
|
|
NM_000465.4(BARD1):c.1307_1310del (p.Ser436fs)
|
rs1574815812
|
|
NM_000465.4(BARD1):c.1322_1323dup (p.Pro442fs)
|
|
|
NM_000465.4(BARD1):c.1323dup (p.Pro442fs)
|
rs1694365908
|
|
NM_000465.4(BARD1):c.1325del (p.Pro442fs)
|
rs1060501287
|
|
NM_000465.4(BARD1):c.1328_1329del (p.Ser443fs)
|
rs1694365276
|
|
NM_000465.4(BARD1):c.1329del (p.Val444fs)
|
rs767587416
|
|
NM_000465.4(BARD1):c.1338C>G (p.Tyr446Ter)
|
rs761702998
|
|
NM_000465.4(BARD1):c.1339_1340insA (p.Leu447fs)
|
|
|
NM_000465.4(BARD1):c.133G>T (p.Glu45Ter)
|
|
|
NM_000465.4(BARD1):c.1343T>A (p.Leu448Ter)
|
|
|
NM_000465.4(BARD1):c.1345C>T (p.Gln449Ter)
|
rs1553619721
|
|
NM_000465.4(BARD1):c.1345del (p.Gln449fs)
|
rs2106081379
|
|
NM_000465.4(BARD1):c.1348_1349delinsCAT (p.Asn450fs)
|
rs1553619713
|
|
NM_000465.4(BARD1):c.1371dup (p.Asp458fs)
|
rs1553619704
|
|
NM_000465.4(BARD1):c.1386G>A (p.Trp462Ter)
|
|
|
NM_000465.4(BARD1):c.1394T>A (p.Leu465Ter)
|
rs1370053894
|
|
NM_000465.4(BARD1):c.1407C>A (p.Cys469Ter)
|
rs1553619349
|
|
NM_000465.4(BARD1):c.1426del (p.Lys475_Val476insTer)
|
rs1559410146
|
|
NM_000465.4(BARD1):c.1429del (p.Val477fs)
|
|
|
NM_000465.4(BARD1):c.1444del (p.Gln482fs)
|
|
|
NM_000465.4(BARD1):c.144_151del (p.Arg49fs)
|
|
|
NM_000465.4(BARD1):c.1474dup (p.Tyr492fs)
|
|
|
NM_000465.4(BARD1):c.1476T>G (p.Tyr492Ter)
|
|
|
NM_000465.4(BARD1):c.1499dup (p.Asp500fs)
|
rs1553619258
|
|
NM_000465.4(BARD1):c.150C>A (p.Cys50Ter)
|
|
|
NM_000465.4(BARD1):c.1525_1528dup (p.Val510fs)
|
|
|
NM_000465.4(BARD1):c.1531A>T (p.Lys511Ter)
|
|
|
NM_000465.4(BARD1):c.1538T>G (p.Leu513Ter)
|
rs2106076340
|
|
NM_000465.4(BARD1):c.1540del (p.Leu514fs)
|
|
|
NM_000465.4(BARD1):c.157del (p.Cys53fs)
|
rs1696452439
|
|
NM_000465.4(BARD1):c.1597del (p.Tyr533fs)
|
|
|
NM_000465.4(BARD1):c.1598del (p.Tyr533fs)
|
|
|
NM_000465.4(BARD1):c.1604_1622delinsCA (p.Asp535fs)
|
|
|
NM_000465.4(BARD1):c.1620del (p.Lys540fs)
|
rs1693504040
|
|
NM_000465.4(BARD1):c.1622C>A (p.Ser541Ter)
|
rs777937955
|
|
NM_000465.4(BARD1):c.1628_1632del (p.Leu543fs)
|
|
|
NM_000465.4(BARD1):c.1635_1663dup (p.Ser555fs)
|
rs1553616352
|
|
NM_000465.4(BARD1):c.1639G>T (p.Glu547Ter)
|
rs876658429
|
|
NM_000465.4(BARD1):c.1639_1667del (p.Glu547fs)
|
|
|
NM_000465.4(BARD1):c.1641_1645dup (p.Asn549fs)
|
rs1553616361
|
|
NM_000465.4(BARD1):c.1656del (p.Ser553fs)
|
rs1574756047
|
|
NM_000465.4(BARD1):c.1658C>A (p.Ser553Ter)
|
|
|
NM_000465.4(BARD1):c.1673C>G (p.Ser558Ter)
|
|
|
NM_000465.4(BARD1):c.1696_1697del (p.Arg566fs)
|
|
|
NM_000465.4(BARD1):c.1718_1730del (p.Ile573fs)
|
|
|
NM_000465.4(BARD1):c.1736C>A (p.Ser579Ter)
|
|
|
NM_000465.4(BARD1):c.1744C>T (p.Gln582Ter)
|
rs1553615135
|
|
NM_000465.4(BARD1):c.1758_1761del (p.Glu587fs)
|
rs1574739207
|
|
NM_000465.4(BARD1):c.1765dup (p.Ala589fs)
|
|
|
NM_000465.4(BARD1):c.176_177del (p.Glu59fs)
|
rs1057517589
|
|
NM_000465.4(BARD1):c.1771del (p.Ile591fs)
|
rs1574739114
|
|
NM_000465.4(BARD1):c.1786_1793del (p.Lys595_Lys596insTer)
|
rs1693074467
|
|
NM_000465.4(BARD1):c.1786_1804del (p.Lys596fs)
|
rs1553615102
|
|
NM_000465.4(BARD1):c.1788del (p.Lys596fs)
|
rs1574739005
|
|
NM_000465.4(BARD1):c.1788dup (p.Tyr597fs)
|
|
|
NM_000465.4(BARD1):c.1789_1792del (p.Tyr597fs)
|
|
|
NM_000465.4(BARD1):c.1790_1794dup (p.Glu599fs)
|
|
|
NM_000465.4(BARD1):c.1809del (p.Thr603_Val604insTer)
|
rs1553615092
|
|
NM_000465.4(BARD1):c.1819del (p.Val607fs)
|
|
|
NM_000465.4(BARD1):c.1829del (p.Pro610fs)
|
rs1693042024
|
|
NM_000465.4(BARD1):c.1838_1841dup (p.Gln615fs)
|
|
|
NM_000465.4(BARD1):c.1843C>T (p.Gln615Ter)
|
rs751710099
|
|
NM_000465.4(BARD1):c.184del (p.Cys62fs)
|
rs1559441846
|
|
NM_000465.4(BARD1):c.1851delinsTG (p.Leu618fs)
|
|
|
NM_000465.4(BARD1):c.1854_1855dup (p.Lys619fs)
|
|
|
NM_000465.4(BARD1):c.1857dup (p.Cys620fs)
|
|
|
NM_000465.4(BARD1):c.1872del (p.Leu625fs)
|
rs876659572
|
|
NM_000465.4(BARD1):c.1900G>T (p.Glu634Ter)
|
|
|
NM_000465.4(BARD1):c.1904G>A (p.Trp635Ter)
|
rs1692308262
|
|
NM_000465.4(BARD1):c.1905G>A (p.Trp635Ter)
|
rs773223671
|
|
NM_000465.4(BARD1):c.1910_1911dup (p.Ala638fs)
|
|
|
NM_000465.4(BARD1):c.1911del (p.Ala638fs)
|
|
|
NM_000465.4(BARD1):c.1911dup (p.Ala638fs)
|
|
|
NM_000465.4(BARD1):c.1932_1933del (p.Val644_Cys645insTer)
|
rs587782504
|
|
NM_000465.4(BARD1):c.1935_1954del (p.Cys645_Glu652delinsTer)
|
rs587780024
|
|
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs)
|
rs587780024
|
|
NM_000465.4(BARD1):c.1939C>T (p.Gln647Ter)
|
rs1350570988
|
|
NM_000465.4(BARD1):c.1944del (p.Glu649fs)
|
|
|
NM_000465.4(BARD1):c.1949del (p.Lys650fs)
|
rs1692302934
|
|
NM_000465.4(BARD1):c.1970del (p.Pro657fs)
|
rs786203739
|
|
NM_000465.4(BARD1):c.1996C>T (p.Gln666Ter)
|
rs730881422
|
|
NM_000465.4(BARD1):c.199del (p.Glu67fs)
|
|
|
NM_000465.4(BARD1):c.2020G>T (p.Gly674Ter)
|
rs1328046615
|
|
NM_000465.4(BARD1):c.2024del (p.Cys675fs)
|
rs2105987971
|
|
NM_000465.4(BARD1):c.2036T>A (p.Leu679Ter)
|
rs1692227690
|
|
NM_000465.4(BARD1):c.2038_2042del (p.Trp680fs)
|
rs1553612222
|
|
NM_000465.4(BARD1):c.2040G>A (p.Trp680Ter)
|
|
|
NM_000465.4(BARD1):c.2050A>T (p.Lys684Ter)
|
rs1559372578
|
|
NM_000465.4(BARD1):c.2063dup (p.Asp689fs)
|
rs1064796026
|
|
NM_000465.4(BARD1):c.2104_2111del (p.Gln701_Ile702insTer)
|
|
|
NM_000465.4(BARD1):c.2126dup (p.Asp710fs)
|
|
|
NM_000465.4(BARD1):c.2129_2132del (p.Asp710fs)
|
rs1692216921
|
|
NM_000465.4(BARD1):c.2137_2141del (p.Val713fs)
|
|
|
NM_000465.4(BARD1):c.2138del (p.Val713fs)
|
|
|
NM_000465.4(BARD1):c.2143C>T (p.Gln715Ter)
|
rs1553612164
|
|
NM_000465.4(BARD1):c.2144dup (p.Thr716fs)
|
rs1574703115
|
|
NM_000465.4(BARD1):c.2148_2149del (p.Ile717fs)
|
rs786203811
|
|
NM_000465.4(BARD1):c.2157_2160dup (p.Ala721fs)
|
|
|
NM_000465.4(BARD1):c.2159_2172del (p.Val720fs)
|
rs1692211675
|
|
NM_000465.4(BARD1):c.2164_2200del (p.Tyr722fs)
|
|
|
NM_000465.4(BARD1):c.2166C>G (p.Tyr722Ter)
|
|
|
NM_000465.4(BARD1):c.2188C>T (p.Gln730Ter)
|
|
|
NM_000465.4(BARD1):c.2195del (p.Phe732fs)
|
|
|
NM_000465.4(BARD1):c.2204_2205insTA (p.Gln735fs)
|
|
|
NM_000465.4(BARD1):c.2208T>A (p.Tyr736Ter)
|
rs2105986813
|
|
NM_000465.4(BARD1):c.2215dup (p.Tyr739fs)
|
|
|
NM_000465.4(BARD1):c.2228del (p.Cys743fs)
|
|
|
NM_000465.4(BARD1):c.2229dup (p.Asn744Ter)
|
rs1259296823
|
|
NM_000465.4(BARD1):c.2262del (p.Val755fs)
|
|
|
NM_000465.4(BARD1):c.2267G>A (p.Trp756Ter)
|
rs1358155595
|
|
NM_000465.4(BARD1):c.2268del (p.Val755_Trp756insTer)
|
rs1559371635
|
|
NM_000465.4(BARD1):c.2276dup (p.Ser760fs)
|
|
|
NM_000465.4(BARD1):c.22_38delinsGTT (p.Arg8fs)
|
|
|
NM_000465.4(BARD1):c.2300_2301del (p.Val767fs)
|
rs750413473
|
|
NM_000465.4(BARD1):c.2300_2301dup (p.Met768Ter)
|
|
|
NM_000465.4(BARD1):c.230_233del (p.Asp77fs)
|
|
|
NM_000465.4(BARD1):c.244G>T (p.Gly82Ter)
|
rs1559437226
|
|
NM_000465.4(BARD1):c.249T>A (p.Cys83Ter)
|
|
|
NM_000465.4(BARD1):c.266del (p.Pro89fs)
|
rs1553624802
|
|
NM_000465.4(BARD1):c.26_40delinsTAATCGGT (p.Asn9fs)
|
|
|
NM_000465.4(BARD1):c.272G>A (p.Trp91Ter)
|
rs1559437094
|
|
NM_000465.4(BARD1):c.273G>A (p.Trp91Ter)
|
rs2106135008
|
|
NM_000465.4(BARD1):c.273del (p.Ala90_Trp91insTer)
|
rs1553624801
|
|
NM_000465.4(BARD1):c.282del (p.Asp94_Leu95insTer)
|
|
|
NM_000465.4(BARD1):c.286A>T (p.Lys96Ter)
|
|
|
NM_000465.4(BARD1):c.292_295del (p.Asn98fs)
|
rs1553624758
|
|
NM_000465.4(BARD1):c.295dup (p.Arg99fs)
|
|
|
NM_000465.4(BARD1):c.298C>T (p.Gln100Ter)
|
rs786201912
|
|
NM_000465.4(BARD1):c.302del (p.Leu101fs)
|
|
|
NM_000465.4(BARD1):c.316C>T (p.Gln106Ter)
|
rs2106134639
|
|
NM_000465.4(BARD1):c.35del (p.Pro12fs)
|
|
|
NM_000465.4(BARD1):c.362C>G (p.Ser121Ter)
|
|
|
NM_000465.4(BARD1):c.369_378del (p.Lys124fs)
|
|
|
NM_000465.4(BARD1):c.39_40del (p.Arg13fs)
|
|
|
NM_000465.4(BARD1):c.415_416del (p.Lys139fs)
|
rs1420243208
|
|
NM_000465.4(BARD1):c.433_435delinsTA (p.Met145fs)
|
|
|
NM_000465.4(BARD1):c.434dup (p.Met145fs)
|
|
|
NM_000465.4(BARD1):c.437G>A (p.Trp146Ter)
|
|
|
NM_000465.4(BARD1):c.438G>A (p.Trp146Ter)
|
rs587781806
|
|
NM_000465.4(BARD1):c.438_439del (p.Trp146fs)
|
|
|
NM_000465.4(BARD1):c.441dup (p.Ser148Ter)
|
rs1553622681
|
|
NM_000465.4(BARD1):c.457_460dup (p.Val154fs)
|
rs772486760
|
|
NM_000465.4(BARD1):c.461_464del (p.Val154fs)
|
|
|
NM_000465.4(BARD1):c.463A>T (p.Arg155Ter)
|
rs1553622669
|
|
NM_000465.4(BARD1):c.468T>G (p.Tyr156Ter)
|
|
|
NM_000465.4(BARD1):c.46_68dup (p.Ala25fs)
|
rs1553628445
|
|
NM_000465.4(BARD1):c.483_490del (p.Ser162fs)
|
|
|
NM_000465.4(BARD1):c.490C>T (p.Gln164Ter)
|
rs750350372
|
|
NM_000465.4(BARD1):c.496C>T (p.Gln166Ter)
|
rs786202500
|
|
NM_000465.4(BARD1):c.50_62del (p.Gly17fs)
|
|
|
NM_000465.4(BARD1):c.512_513del (p.Lys171fs)
|
|
|
NM_000465.4(BARD1):c.513del (p.Asp172fs)
|
|
|
NM_000465.4(BARD1):c.513dup (p.Asp172fs)
|
rs746325928
|
|
NM_000465.4(BARD1):c.517dup (p.Ala173fs)
|
rs1574821129
|
|
NM_000465.4(BARD1):c.529C>T (p.Gln177Ter)
|
|
|
NM_000465.4(BARD1):c.536C>G (p.Ser179Ter)
|
|
|
NM_000465.4(BARD1):c.539_540del (p.Ser179_Tyr180insTer)
|
rs779427628
|
|
NM_000465.4(BARD1):c.543del (p.Glu181fs)
|
|
|
NM_000465.4(BARD1):c.550del (p.Ser184fs)
|
|
|
NM_000465.4(BARD1):c.55G>T (p.Glu19Ter)
|
rs752514155
|
|
NM_000465.4(BARD1):c.580_581del (p.Arg194fs)
|
|
|
NM_000465.4(BARD1):c.589A>T (p.Lys197Ter)
|
|
|
NM_000465.4(BARD1):c.596_597dup (p.Ala200fs)
|
rs1574820590
|
|
NM_000465.4(BARD1):c.601A>T (p.Arg201Ter)
|
|
|
NM_000465.4(BARD1):c.614del (p.Lys205fs)
|
rs1559425604
|
|
NM_000465.4(BARD1):c.614dup (p.Gln206fs)
|
rs1559425604
|
|
NM_000465.4(BARD1):c.623_624insT (p.Lys208fs)
|
rs1695009134
|
|
NM_000465.4(BARD1):c.623del (p.Lys208fs)
|
|
|
NM_000465.4(BARD1):c.623dup (p.Lys209fs)
|
rs587780033
|
|
NM_000465.4(BARD1):c.624dup (p.Lys209fs)
|
rs1553622558
|
|
NM_000465.4(BARD1):c.627_628del (p.Lys209fs)
|
rs864622223
|
|
NM_000465.4(BARD1):c.628del (p.Thr210fs)
|
|
|
NM_000465.4(BARD1):c.631_632del (p.Leu211fs)
|
|
|
NM_000465.4(BARD1):c.632T>A (p.Leu211Ter)
|
rs762171436
|
|
NM_000465.4(BARD1):c.632T>G (p.Leu211Ter)
|
rs762171436
|
|
NM_000465.4(BARD1):c.632dup (p.Leu211fs)
|
rs999444545
|
|
NM_000465.4(BARD1):c.646del (p.Gln216fs)
|
rs1553622542
|
|
NM_000465.4(BARD1):c.653G>A (p.Trp218Ter)
|
rs1553622534
|
|
NM_000465.4(BARD1):c.657_660del (p.Asn219fs)
|
rs587781671
|
|
NM_000465.4(BARD1):c.65_101del (p.Ser22fs)
|
rs1574869326
|
|
NM_000465.4(BARD1):c.673G>T (p.Glu225Ter)
|
rs1064793049
|
|
NM_000465.4(BARD1):c.682G>T (p.Glu228Ter)
|
|
|
NM_000465.4(BARD1):c.684del (p.Glu228fs)
|
|
|
NM_000465.4(BARD1):c.686_687insG (p.Phe229fs)
|
|
|
NM_000465.4(BARD1):c.697G>T (p.Glu233Ter)
|
|
|
NM_000465.4(BARD1):c.69_70delinsTCCGGGAACGAGCCTCGTTCCGCGT (p.Ala25fs)
|
rs876659040
|
|
NM_000465.4(BARD1):c.700G>T (p.Glu234Ter)
|
rs905491643
|
|
NM_000465.4(BARD1):c.709C>T (p.Gln237Ter)
|
rs587780035
|
|
NM_000465.4(BARD1):c.716_732del (p.Leu239fs)
|
|
|
NM_000465.4(BARD1):c.730dup (p.Ser244fs)
|
|
|
NM_000465.4(BARD1):c.733C>T (p.Gln245Ter)
|
rs587781430
|
|
NM_000465.4(BARD1):c.733_734insTGGAT (p.Gln245fs)
|
|
|
NM_000465.4(BARD1):c.737dup (p.Ser247fs)
|
|
|
NM_000465.4(BARD1):c.741_750del (p.Ile249fs)
|
rs1559425098
|
|
NM_000465.4(BARD1):c.776del (p.Asp259fs)
|
|
|
NM_000465.4(BARD1):c.782dup (p.Ala262fs)
|
|
|
NM_000465.4(BARD1):c.79G>T (p.Glu27Ter)
|
rs587780037
|
|
NM_000465.4(BARD1):c.802G>T (p.Glu268Ter)
|
|
|
NM_000465.4(BARD1):c.810del (p.Glu270fs)
|
|
|
NM_000465.4(BARD1):c.824dup (p.Leu275fs)
|
|
|
NM_000465.4(BARD1):c.838_839del (p.Leu280fs)
|
rs876659752
|
|
NM_000465.4(BARD1):c.853dup (p.Gln285fs)
|
|
|
NM_000465.4(BARD1):c.856del (p.Gln285_Ile286insTer)
|
rs2106110129
|
|
NM_000465.4(BARD1):c.858dup (p.Glu287fs)
|
rs1553622397
|
|
NM_000465.4(BARD1):c.860_861del (p.Glu287fs)
|
rs786201868
|
|
NM_000465.4(BARD1):c.862_863insGG (p.Ser288fs)
|
|
|
NM_000465.4(BARD1):c.873dup (p.Lys292Ter)
|
rs1553622378
|
|
NM_000465.4(BARD1):c.884_888del (p.Asn295fs)
|
|
|
NM_000465.4(BARD1):c.925dup (p.Thr309fs)
|
rs2106109750
|
|
NM_000465.4(BARD1):c.947T>G (p.Leu316Ter)
|
rs587781728
|
|
NM_000465.4(BARD1):c.947del (p.Pro315_Leu316insTer)
|
|
|
NM_000465.4(BARD1):c.950_957delinsG (p.Glu317fs)
|
|
|
NM_000465.4(BARD1):c.961A>T (p.Lys321Ter)
|
|
|
NM_000465.4(BARD1):c.966_967dup (p.Gly323fs)
|
|
|
NM_000465.4(BARD1):c.974_986del (p.His325fs)
|
|
|
NM_000465.4(BARD1):c.975_976del (p.His325fs)
|
|
|
NM_000465.4(BARD1):c.998_999del (p.Ile332_Ser333insTer)
|
rs1482641121
|
|
NM_000466.3(PEX1):c.2097dup (p.Ile700fs)
|
rs61750415
|
|
NM_000478.6(ALPL):c.1171del (p.Arg391fs)
|
rs751404811
|
|
NM_000492.3(CFTR):c.1210-12T[5]
|
rs1805177
|
|
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del)
|
rs113993960
|
|
NM_000492.3(CFTR):c.2175dup (p.Glu726Argfs)
|
rs746418935
|
|
NM_000492.4(CFTR):c.1040G>C (p.Arg347Pro)
|
rs77932196
|
|
NM_000492.4(CFTR):c.1155_1156dup (p.Asn386fs)
|
rs121908785
|
|
NM_000492.4(CFTR):c.1364C>A (p.Ala455Glu)
|
rs74551128
|
|
NM_000492.4(CFTR):c.1516ATC[1] (p.Ile507del)
|
rs121908745
|
|
NM_000492.4(CFTR):c.1545_1546del (p.Tyr515_Arg516delinsTer)
|
rs121908776
|
|
NM_000492.4(CFTR):c.1558G>T (p.Val520Phe)
|
rs77646904
|
|
NM_000492.4(CFTR):c.1654C>T (p.Gln552Ter)
|
rs76554633
|
|
NM_000492.4(CFTR):c.1911del (p.Gln637fs)
|
rs1554389296
|
|
NM_000492.4(CFTR):c.1923_1931delinsA (p.Ser641fs)
|
rs121908779
|
|
NM_000492.4(CFTR):c.2012del (p.Ser670_Leu671insTer)
|
rs121908812
|
|
NM_000492.4(CFTR):c.2051_2052delinsG (p.Lys684fs)
|
rs121908799
|
|
NM_000492.4(CFTR):c.2052del (p.Lys684fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2052dup (p.Gln685fs)
|
rs121908746
|
|
NM_000492.4(CFTR):c.2128A>T (p.Lys710Ter)
|
rs75115087
|
|
NM_000492.4(CFTR):c.262_263del (p.Leu88fs)
|
rs121908769
|
|
NM_000492.4(CFTR):c.2737_2738insG (p.Tyr913Ter)
|
rs121908788
|
|
NM_000492.4(CFTR):c.274G>T (p.Glu92Ter)
|
rs121908751
|
|
NM_000492.4(CFTR):c.3067_3072del (p.Ile1023_Val1024del)
|
rs121908767
|
|
NM_000492.4(CFTR):c.313del (p.Ile105fs)
|
rs121908801
|
|
NM_000492.4(CFTR):c.3276C>G (p.Tyr1092Ter)
|
rs121908761
|
|
NM_000492.4(CFTR):c.350G>A (p.Arg117His)
|
rs78655421
|
|
NM_000492.4(CFTR):c.3528del (p.Lys1177fs)
|
rs78984783
|
|
NM_000492.4(CFTR):c.3764C>A (p.Ser1255Ter)
|
rs76649725
|
|
NM_000492.4(CFTR):c.3773dup (p.Leu1258fs)
|
rs121908789
|
|
NM_000492.4(CFTR):c.442del (p.Ile148fs)
|
rs121908770
|
|
NM_000492.4(CFTR):c.531del (p.Ile177fs)
|
rs121908771
|
|
NM_000492.4(CFTR):c.580-1G>T
|
rs121908793
|
|
NM_000492.4(CFTR):c.803del (p.Asn268fs)
|
rs121908772
|
|
NM_000492.4(CFTR):c.948del (p.Phe316fs)
|
rs75528968
|
|
NM_000500.9(CYP21A2):c.293-13C>G
|
rs6467
|
|
NM_000500.9(CYP21A2):c.332_339del (p.Gly111fs)
|
rs387906510
|
|
NM_000500.9(CYP21A2):c.710_719delinsACGAGGAGAA (p.Ile237_Met240delinsAsnGluGluLys)
|
rs786204728
|
|
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu)
|
rs6471
|
|
NM_000518.4(HBB):c.364G>A (p.Glu122Lys)
|
rs33946267
|
|
NM_000518.5(HBB):c.126_129del (p.Phe42fs)
|
rs80356821
|
|
NM_000518.5(HBB):c.27dup (p.Ser10fs)
|
rs35699606
|
|
NM_000518.5(HBB):c.47G>A (p.Trp16Ter)
|
rs63750783
|
|
NM_000520.6(HEXA):c.805+1G>A
|
rs121907980
|
|
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp)
|
rs80338680
|
|
NM_000532.5(PCCB):c.1218_1231delinsTAGAGCACAGGA (p.Gly407fs)
|
rs397507445
|
|
NM_000535.6(PMS2):c.2182_2184delinsG (p.Thr728Alafs)
|
rs1554294508
|
|
NM_000535.7(PMS2):c.1009dup (p.Thr337fs)
|
rs1214597671
|
|
NM_000535.7(PMS2):c.100_112del (p.Ser34fs)
|
|
|
NM_000535.7(PMS2):c.1017_1018insG (p.Lys340fs)
|
|
|
NM_000535.7(PMS2):c.1021del (p.Arg341fs)
|
rs63750049
|
|
NM_000535.7(PMS2):c.1036C>T (p.Gln346Ter)
|
rs1554298786
|
|
NM_000535.7(PMS2):c.1048del (p.Leu350fs)
|
|
|
NM_000535.7(PMS2):c.1067del (p.Lys356fs)
|
rs587781395
|
|
NM_000535.7(PMS2):c.1071del (p.Ser358fs)
|
rs1783529876
|
|
NM_000535.7(PMS2):c.1076dup (p.Leu359fs)
|
rs267608156
|
|
NM_000535.7(PMS2):c.1111_1112del (p.Asn371fs)
|
rs1583334346
|
|
NM_000535.7(PMS2):c.1112_1113delinsTTTA (p.Asn371fs)
|
rs587779326
|
|
NM_000535.7(PMS2):c.1117dup (p.Ser373fs)
|
rs1783516106
|
|
NM_000535.7(PMS2):c.1119_1122del (p.Gln374fs)
|
rs757679199
|
|
NM_000535.7(PMS2):c.1120C>T (p.Gln374Ter)
|
rs1437858319
|
|
NM_000535.7(PMS2):c.1123C>T (p.Gln375Ter)
|
rs956005905
|
|
NM_000535.7(PMS2):c.1151T>G (p.Leu384Ter)
|
rs1554298087
|
|
NM_000535.7(PMS2):c.1158_1159del (p.Lys386fs)
|
|
|
NM_000535.7(PMS2):c.1164del (p.His388fs)
|
rs1554298082
|
|
NM_000535.7(PMS2):c.116del (p.Val39fs)
|
rs1064794152
|
|
NM_000535.7(PMS2):c.1181del (p.Lys394fs)
|
rs1554298067
|
|
NM_000535.7(PMS2):c.1196dup (p.Gln400fs)
|
rs1554298056
|
|
NM_000535.7(PMS2):c.1204C>T (p.Gln402Ter)
|
|
|
NM_000535.7(PMS2):c.1211del (p.Pro404fs)
|
|
|
NM_000535.7(PMS2):c.1217T>G (p.Leu406Ter)
|
|
|
NM_000535.7(PMS2):c.121G>T (p.Glu41Ter)
|
rs3209663
|
|
NM_000535.7(PMS2):c.1223del (p.Thr408fs)
|
|
|
NM_000535.7(PMS2):c.1231dup (p.Glu411fs)
|
|
|
NM_000535.7(PMS2):c.1238_1239del (p.Lys413fs)
|
|
|
NM_000535.7(PMS2):c.1239_1240insT (p.Asp414Ter)
|
rs1562635799
|
|
NM_000535.7(PMS2):c.1239del (p.Asp414fs)
|
rs267608159
|
|
NM_000535.7(PMS2):c.1239dup (p.Asp414fs)
|
rs267608159
|
|
NM_000535.7(PMS2):c.1249_1253dup (p.Arg419fs)
|
|
|
NM_000535.7(PMS2):c.1254del (p.Arg419fs)
|
|
|
NM_000535.7(PMS2):c.1266_1281del (p.Glu422fs)
|
|
|
NM_000535.7(PMS2):c.1275_1279del (p.Leu426fs)
|
rs1554297962
|
|
NM_000535.7(PMS2):c.1281del (p.His428fs)
|
rs1783147885
|
|
NM_000535.7(PMS2):c.1289_1292del (p.Thr430fs)
|
|
|
NM_000535.7(PMS2):c.1296del (p.Asn432fs)
|
|
|
NM_000535.7(PMS2):c.1297A>T (p.Lys433Ter)
|
rs863224496
|
|
NM_000535.7(PMS2):c.129del (p.Glu44fs)
|
rs1060503148
|
|
NM_000535.7(PMS2):c.1329_1330dup (p.Arg444fs)
|
|
|
NM_000535.7(PMS2):c.1332del (p.Ser445fs)
|
rs1554297877
|
|
NM_000535.7(PMS2):c.1354_1355del (p.Gly452fs)
|
|
|
NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter)
|
rs587780724
|
|
NM_000535.7(PMS2):c.139_146del (p.Leu47fs)
|
rs886039615
|
|
NM_000535.7(PMS2):c.1408delinsTGTCTTCTAGCACTTCAGGTGCCATCTCTGACAAAGGCGTCCTGAGA (p.Pro470delinsCysLeuLeuAlaLeuGlnValProSerLeuThrLysAlaSerTer)
|
|
|
NM_000535.7(PMS2):c.1415_1418del (p.Lys472fs)
|
|
|
NM_000535.7(PMS2):c.1417G>T (p.Glu473Ter)
|
|
|
NM_000535.7(PMS2):c.1472_1485del (p.Glu491fs)
|
rs1562632035
|
|
NM_000535.7(PMS2):c.1485dup (p.His496fs)
|
|
|
NM_000535.7(PMS2):c.1486dup (p.His496fs)
|
|
|
NM_000535.7(PMS2):c.149del (p.Gly50fs)
|
|
|
NM_000535.7(PMS2):c.1500del (p.Val501fs)
|
rs759151952
|
|
NM_000535.7(PMS2):c.1500dup (p.Val501fs)
|
rs759151952
|
|
NM_000535.7(PMS2):c.1545C>A (p.Cys515Ter)
|
|
|
NM_000535.7(PMS2):c.1556_1557del (p.Tyr519fs)
|
|
|
NM_000535.7(PMS2):c.1557T>G (p.Tyr519Ter)
|
rs6972869
|
|
NM_000535.7(PMS2):c.1571dup (p.Gly525fs)
|
rs1554297534
|
|
NM_000535.7(PMS2):c.1577del (p.Asp526fs)
|
|
|
NM_000535.7(PMS2):c.1579_1580del (p.Arg527fs)
|
rs1064793234
|
|
NM_000535.7(PMS2):c.1579del (p.Arg527fs)
|
rs1554297523
|
|
NM_000535.7(PMS2):c.1583del (p.Gly528fs)
|
rs1783042060
|
|
NM_000535.7(PMS2):c.1588C>T (p.Gln530Ter)
|
|
|
NM_000535.7(PMS2):c.1605_1606del (p.Gln536fs)
|
rs2128726933
|
|
NM_000535.7(PMS2):c.1606C>T (p.Gln536Ter)
|
rs1554297488
|
|
NM_000535.7(PMS2):c.1638_1639del (p.Ser547fs)
|
rs863224498
|
|
NM_000535.7(PMS2):c.1653C>A (p.Cys551Ter)
|
rs876659162
|
|
NM_000535.7(PMS2):c.1675G>T (p.Gly559Ter)
|
|
|
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter)
|
rs587778618
|
|
NM_000535.7(PMS2):c.1687_1693del (p.Arg563fs)
|
rs1064795345
|
|
NM_000535.7(PMS2):c.1694T>A (p.Leu565Ter)
|
|
|
NM_000535.7(PMS2):c.1699C>T (p.Gln567Ter)
|
rs1554297342
|
|
NM_000535.7(PMS2):c.1707delinsAA (p.Asn570fs)
|
|
|
NM_000535.7(PMS2):c.1716_1718delinsCAACTAAAACG (p.Thr573delinsAsnTer)
|
|
|
NM_000535.7(PMS2):c.1721del (p.Pro574fs)
|
rs1583316404
|
|
NM_000535.7(PMS2):c.1721dup (p.Asn575fs)
|
|
|
NM_000535.7(PMS2):c.1730dup (p.Arg578fs)
|
rs587779330
|
|
NM_000535.7(PMS2):c.1731_1732delinsAGT (p.Arg578fs)
|
rs1057515572
|
|
NM_000535.7(PMS2):c.1737del (p.Phe579fs)
|
rs1782994894
|
|
NM_000535.7(PMS2):c.1738A>T (p.Lys580Ter)
|
rs267608169
|
|
NM_000535.7(PMS2):c.1743del (p.Glu582fs)
|
rs1057517801
|
|
NM_000535.7(PMS2):c.1756del (p.Ser586fs)
|
|
|
NM_000535.7(PMS2):c.1778del (p.Lys593fs)
|
rs766389591
|
|
NM_000535.7(PMS2):c.1789del (p.Thr597fs)
|
|
|
NM_000535.7(PMS2):c.1802C>G (p.Ser601Ter)
|
rs63750456
|
|
NM_000535.7(PMS2):c.1810C>T (p.Gln604Ter)
|
rs1064793426
|
|
NM_000535.7(PMS2):c.1815del (p.Asp606fs)
|
|
|
NM_000535.7(PMS2):c.182del (p.Tyr61fs)
|
rs63750793
|
|
NM_000535.7(PMS2):c.1831delinsTT (p.Ile611fs)
|
|
|
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)
|
rs63750250
|
|
NM_000535.7(PMS2):c.1840A>T (p.Lys614Ter)
|
rs63750490
|
|
NM_000535.7(PMS2):c.1845del (p.Val616fs)
|
|
|
NM_000535.7(PMS2):c.1855del (p.Asp619fs)
|
rs1782958183
|
|
NM_000535.7(PMS2):c.1859_1860insAT (p.Phe620fs)
|
rs756358866
|
|
NM_000535.7(PMS2):c.1863del (p.Ser621_Met622insTer)
|
rs1554297164
|
|
NM_000535.7(PMS2):c.1864_1865del (p.Met622fs)
|
rs1060503137
|
|
NM_000535.7(PMS2):c.1867del (p.Ser623fs)
|
|
|
NM_000535.7(PMS2):c.1874_1877delinsAGG (p.Leu625_Ala626delinsTer)
|
rs1554297153
|
|
NM_000535.7(PMS2):c.1874del (p.Ser624_Leu625insTer)
|
rs786203073
|
|
NM_000535.7(PMS2):c.1876_1880del (p.Ala626fs)
|
|
|
NM_000535.7(PMS2):c.1891C>T (p.Gln631Ter)
|
rs1060503138
|
|
NM_000535.7(PMS2):c.1895T>G (p.Leu632Ter)
|
|
|
NM_000535.7(PMS2):c.1908del (p.Gln637fs)
|
rs1562626121
|
|
NM_000535.7(PMS2):c.1909C>T (p.Gln637Ter)
|
rs1554297125
|
|
NM_000535.7(PMS2):c.1912del (p.Gln638fs)
|
rs1562626070
|
|
NM_000535.7(PMS2):c.1924del (p.Glu642fs)
|
rs2128721171
|
|
NM_000535.7(PMS2):c.1929_1930del (p.Asn644fs)
|
rs1782935566
|
|
NM_000535.7(PMS2):c.1930_1937del (p.Asn644fs)
|
|
|
NM_000535.7(PMS2):c.1933del (p.Tyr645fs)
|
|
|
NM_000535.7(PMS2):c.1934dup (p.Tyr645Ter)
|
|
|
NM_000535.7(PMS2):c.1936del (p.Arg646fs)
|
rs1782934080
|
|
NM_000535.7(PMS2):c.1938del (p.Lys647fs)
|
rs2128720948
|
|
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)
|
rs201451115
|
|
NM_000535.7(PMS2):c.1970del (p.Asn657fs)
|
rs1064794566
|
|
NM_000535.7(PMS2):c.1970dup (p.Asn657fs)
|
rs1064794566
|
|
NM_000535.7(PMS2):c.1972C>T (p.Gln658Ter)
|
rs1172837844
|
|
NM_000535.7(PMS2):c.1981G>T (p.Glu661Ter)
|
rs778531080
|
|
NM_000535.7(PMS2):c.1987G>T (p.Glu663Ter)
|
rs1554297061
|
|
NM_000535.7(PMS2):c.1A>C (p.Met1Leu)
|
rs587779333
|
|
NM_000535.7(PMS2):c.1A>T (p.Met1Leu)
|
rs587779333
|
|
NM_000535.7(PMS2):c.2001_2002del (p.Glu667fs)
|
rs1554297058
|
|
NM_000535.7(PMS2):c.2016del (p.Met672fs)
|
rs1554295967
|
|
NM_000535.7(PMS2):c.2032del (p.Ile678fs)
|
|
|
NM_000535.7(PMS2):c.2050del (p.Leu684fs)
|
|
|
NM_000535.7(PMS2):c.205del (p.Ser69fs)
|
rs2128830113
|
|
NM_000535.7(PMS2):c.206C>A (p.Ser69Ter)
|
rs730881914
|
|
NM_000535.7(PMS2):c.20C>A (p.Ser7Ter)
|
|
|
NM_000535.7(PMS2):c.2117del (p.Lys706fs)
|
rs587782704
|
|
NM_000535.7(PMS2):c.211_214del (p.Asn71fs)
|
|
|
NM_000535.7(PMS2):c.2123del (p.Asn708fs)
|
rs781078805
|
|
NM_000535.7(PMS2):c.2137C>T (p.Gln713Ter)
|
rs876659900
|
|
NM_000535.7(PMS2):c.2140C>T (p.Gln714Ter)
|
rs1057524433
|
|
NM_000535.7(PMS2):c.2148del (p.Val717fs)
|
|
|
NM_000535.7(PMS2):c.214G>T (p.Gly72Ter)
|
|
|
NM_000535.7(PMS2):c.214_215insAAGTTTCA (p.Gly72fs)
|
rs1785419483
|
|
NM_000535.7(PMS2):c.2156del (p.Gln719fs)
|
rs786201062
|
|
NM_000535.7(PMS2):c.2160del (p.Gln721fs)
|
|
|
NM_000535.7(PMS2):c.2179C>T (p.Gln727Ter)
|
rs786202202
|
|
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs)
|
rs587779335
|
|
NM_000535.7(PMS2):c.2192T>A (p.Leu731Ter)
|
rs1060503110
|
|
NM_000535.7(PMS2):c.2192T>G (p.Leu731Ter)
|
rs1060503110
|
|
NM_000535.7(PMS2):c.2192_2196del (p.Leu731fs)
|
rs63750695
|
|
NM_000535.7(PMS2):c.2239A>T (p.Arg747Ter)
|
rs1554294448
|
|
NM_000535.7(PMS2):c.223del (p.Gly74_Val75insTer)
|
rs1554304974
|
|
NM_000535.7(PMS2):c.2243_2246del (p.Lys748fs)
|
rs267608173
|
|
NM_000535.7(PMS2):c.2249del (p.Gly750fs)
|
rs1583285552
|
|
NM_000535.7(PMS2):c.2281del (p.Val761fs)
|
|
|
NM_000535.7(PMS2):c.2319dup (p.Lys774Ter)
|
rs1554293975
|
|
NM_000535.7(PMS2):c.2320_2321insT (p.Lys774fs)
|
|
|
NM_000535.7(PMS2):c.2324del (p.Asn775fs)
|
|
|
NM_000535.7(PMS2):c.232G>T (p.Glu78Ter)
|
|
|
NM_000535.7(PMS2):c.2331dup (p.Phe778fs)
|
|
|
NM_000535.7(PMS2):c.2335G>T (p.Gly779Ter)
|
|
|
NM_000535.7(PMS2):c.2341C>T (p.Gln781Ter)
|
rs587780054
|
|
NM_000535.7(PMS2):c.2341del (p.Gln781fs)
|
|
|
NM_000535.7(PMS2):c.2353G>T (p.Glu785Ter)
|
rs1554293920
|
|
NM_000535.7(PMS2):c.2361_2364del (p.Phe788fs)
|
rs267608160
|
|
NM_000535.7(PMS2):c.2373del (p.Ser791fs)
|
|
|
NM_000535.7(PMS2):c.2386dup (p.Val796fs)
|
|
|
NM_000535.7(PMS2):c.2395dup (p.Arg799fs)
|
|
|
NM_000535.7(PMS2):c.2397_2400dup (p.Ser801fs)
|
rs2128672594
|
|
NM_000535.7(PMS2):c.2397del (p.Pro800fs)
|
|
|
NM_000535.7(PMS2):c.2413C>T (p.Gln805Ter)
|
rs1554293810
|
|
NM_000535.7(PMS2):c.241G>T (p.Glu81Ter)
|
rs730881919
|
|
NM_000535.7(PMS2):c.2425_2426del (p.Ser809fs)
|
|
|
NM_000535.7(PMS2):c.2444C>A (p.Ser815Ter)
|
rs587779338
|
|
NM_000535.7(PMS2):c.2444_2445insTT (p.Val816fs)
|
rs2128671557
|
|
NM_000535.7(PMS2):c.2450del (p.Met817fs)
|
|
|
NM_000535.7(PMS2):c.2469_2473del (p.Asn823fs)
|
rs2128658792
|
|
NM_000535.7(PMS2):c.247_250dup (p.Thr84fs)
|
rs1554304940
|
|
NM_000535.7(PMS2):c.2500_2501delinsG (p.Met834fs)
|
rs587781626
|
|
NM_000535.7(PMS2):c.2506G>T (p.Glu836Ter)
|
rs786201039
|
|
NM_000535.7(PMS2):c.2529_2537del (p.Cys843_Gly846delinsTer)
|
|
|
NM_000535.7(PMS2):c.2531C>A (p.Pro844His)
|
rs587782787
|
|
NM_000535.7(PMS2):c.261_265del (p.His88fs)
|
|
|
NM_000535.7(PMS2):c.262dup (p.His88fs)
|
|
|
NM_000535.7(PMS2):c.267_268insGATA (p.Ser90fs)
|
|
|
NM_000535.7(PMS2):c.269_270dup (p.Lys91fs)
|
rs1554304745
|
|
NM_000535.7(PMS2):c.270dup (p.Lys91Ter)
|
|
|
NM_000535.7(PMS2):c.298C>T (p.Gln100Ter)
|
|
|
NM_000535.7(PMS2):c.2T>A (p.Met1Lys)
|
rs587780059
|
|
NM_000535.7(PMS2):c.2T>G (p.Met1Arg)
|
rs587780059
|
|
NM_000535.7(PMS2):c.312del (p.Phe104fs)
|
rs1785372371
|
|
NM_000535.7(PMS2):c.325G>T (p.Glu109Ter)
|
rs63749862
|
|
NM_000535.7(PMS2):c.325del (p.Glu109fs)
|
rs587781716
|
|
NM_000535.7(PMS2):c.325dup (p.Glu109fs)
|
rs587781716
|
|
NM_000535.7(PMS2):c.33del (p.Ala12fs)
|
rs1554306605
|
|
NM_000535.7(PMS2):c.351del (p.Ser118fs)
|
|
|
NM_000535.7(PMS2):c.358_365dup (p.Ile122fs)
|
|
|
NM_000535.7(PMS2):c.368del (p.Ser123fs)
|
rs2128819251
|
|
NM_000535.7(PMS2):c.375C>A (p.Cys125Ter)
|
rs1562690527
|
|
NM_000535.7(PMS2):c.383C>A (p.Ser128Ter)
|
rs116373169
|
|
NM_000535.7(PMS2):c.397_406del (p.Thr133fs)
|
|
|
NM_000535.7(PMS2):c.3G>A (p.Met1Ile)
|
rs1554309086
|
|
NM_000535.7(PMS2):c.3G>T (p.Met1Ile)
|
rs1554309086
|
|
NM_000535.7(PMS2):c.407del (p.Met136fs)
|
|
|
NM_000535.7(PMS2):c.42del (p.Ile15fs)
|
rs2128846824
|
|
NM_000535.7(PMS2):c.444del (p.Tyr149fs)
|
|
|
NM_000535.7(PMS2):c.445del (p.Tyr149fs)
|
rs769742496
|
|
NM_000535.7(PMS2):c.447C>G (p.Tyr149Ter)
|
|
|
NM_000535.7(PMS2):c.451del (p.Arg151fs)
|
rs1562689635
|
|
NM_000535.7(PMS2):c.452_457delinsCCCC (p.Arg151fs)
|
|
|
NM_000535.7(PMS2):c.467_468del (p.Thr156fs)
|
|
|
NM_000535.7(PMS2):c.478C>T (p.Gln160Ter)
|
rs36038802
|
|
NM_000535.7(PMS2):c.485T>A (p.Leu162Ter)
|
rs1785199575
|
|
NM_000535.7(PMS2):c.487_497del (p.Phe163fs)
|
|
|
NM_000535.7(PMS2):c.4G>T (p.Glu2Ter)
|
rs1554309080
|
|
NM_000535.7(PMS2):c.503dup (p.Arg169fs)
|
|
|
NM_000535.7(PMS2):c.512del (p.Lys171fs)
|
|
|
NM_000535.7(PMS2):c.51_55del (p.Ile18fs)
|
|
|
NM_000535.7(PMS2):c.51del (p.Ile18fs)
|
rs1785715961
|
|
NM_000535.7(PMS2):c.520C>T (p.Gln174Ter)
|
rs1221485925
|
|
NM_000535.7(PMS2):c.525_534del (p.Asn176fs)
|
rs1785187053
|
|
NM_000535.7(PMS2):c.535A>T (p.Lys179Ter)
|
rs1554303861
|
|
NM_000535.7(PMS2):c.543del (p.Glu180_Tyr181insTer)
|
rs63751029
|
|
NM_000535.7(PMS2):c.573C>A (p.Tyr191Ter)
|
|
|
NM_000535.7(PMS2):c.584C>A (p.Ser195Ter)
|
|
|
NM_000535.7(PMS2):c.598del (p.Arg199_Val200insTer)
|
|
|
NM_000535.7(PMS2):c.613C>T (p.Gln205Ter)
|
rs758250810
|
|
NM_000535.7(PMS2):c.622C>T (p.Gln208Ter)
|
|
|
NM_000535.7(PMS2):c.631C>T (p.Arg211Ter)
|
rs760228510
|
|
NM_000535.7(PMS2):c.634C>T (p.Gln212Ter)
|
rs1562678257
|
|
NM_000535.7(PMS2):c.641_644dup (p.Cys216fs)
|
rs1784802468
|
|
NM_000535.7(PMS2):c.655G>T (p.Gly219Ter)
|
rs1064796190
|
|
NM_000535.7(PMS2):c.65C>A (p.Ser22Ter)
|
rs767028531
|
|
NM_000535.7(PMS2):c.65C>G (p.Ser22Ter)
|
rs767028531
|
|
NM_000535.7(PMS2):c.663del (p.Ser222fs)
|
rs2128799910
|
|
NM_000535.7(PMS2):c.68_69del (p.Val23fs)
|
|
|
NM_000535.7(PMS2):c.690_691del (p.Phe231fs)
|
rs1064795447
|
|
NM_000535.7(PMS2):c.697C>T (p.Gln233Ter)
|
rs587779343
|
|
NM_000535.7(PMS2):c.717_723dup (p.Phe242fs)
|
rs1583375182
|
|
NM_000535.7(PMS2):c.726del (p.Phe242fs)
|
rs1583375132
|
|
NM_000535.7(PMS2):c.730C>T (p.Gln244Ter)
|
rs1562671039
|
|
NM_000535.7(PMS2):c.735dup (p.Pro246fs)
|
rs2128788145
|
|
NM_000535.7(PMS2):c.736_741delinsTGTGTGTGAAG (p.Pro246_Pro247delinsCysValTer)
|
rs267608150
|
|
NM_000535.7(PMS2):c.740dup (p.Pro247_Ser248insTer)
|
|
|
NM_000535.7(PMS2):c.742dup (p.Ser248fs)
|
rs1784536095
|
|
NM_000535.7(PMS2):c.746_753del (p.Asp249fs)
|
rs587782710
|
|
NM_000535.7(PMS2):c.748_749del (p.Ser250fs)
|
rs1554301486
|
|
NM_000535.7(PMS2):c.750del (p.Val251fs)
|
|
|
NM_000535.7(PMS2):c.756_757del (p.Cys252_Glu253delinsTer)
|
rs1064794905
|
|
NM_000535.7(PMS2):c.757G>T (p.Glu253Ter)
|
|
|
NM_000535.7(PMS2):c.765C>A (p.Tyr255Ter)
|
rs573125799
|
|
NM_000535.7(PMS2):c.765C>G (p.Tyr255Ter)
|
|
|
NM_000535.7(PMS2):c.767del (p.Gly256fs)
|
|
|
NM_000535.7(PMS2):c.769_778del (p.Leu257fs)
|
|
|
NM_000535.7(PMS2):c.781del (p.Asp261fs)
|
|
|
NM_000535.7(PMS2):c.79del (p.Cys27fs)
|
|
|
NM_000535.7(PMS2):c.7C>T (p.Arg3Ter)
|
rs763939668
|
|
NM_000535.7(PMS2):c.802del (p.Tyr268fs)
|
rs267608149
|
|
NM_000535.7(PMS2):c.802dup (p.Tyr268fs)
|
rs267608149
|
|
NM_000535.7(PMS2):c.821C>G (p.Ser274Ter)
|
|
|
NM_000535.7(PMS2):c.823C>T (p.Gln275Ter)
|
rs587780062
|
|
NM_000535.7(PMS2):c.828C>A (p.Cys276Ter)
|
rs757324104
|
|
NM_000535.7(PMS2):c.851C>G (p.Ser284Ter)
|
rs587782898
|
|
NM_000535.7(PMS2):c.851del (p.Ser283_Ser284insTer)
|
rs876658964
|
|
NM_000535.7(PMS2):c.857_864del (p.Asp286fs)
|
rs267608154
|
|
NM_000535.7(PMS2):c.861_864del (p.Arg287fs)
|
rs267608154
|
|
NM_000535.7(PMS2):c.862C>T (p.Gln288Ter)
|
rs1583363851
|
|
NM_000535.7(PMS2):c.862_863del (p.Gln288fs)
|
rs63750246
|
|
NM_000535.7(PMS2):c.869del (p.Phe290fs)
|
rs2128775109
|
|
NM_000535.7(PMS2):c.870del (p.Phe291fs)
|
rs1784299649
|
|
NM_000535.7(PMS2):c.873del (p.Phe291fs)
|
rs1261282733
|
|
NM_000535.7(PMS2):c.878dup (p.Asn293fs)
|
rs1344095646
|
|
NM_000535.7(PMS2):c.88C>T (p.Gln30Ter)
|
rs141577476
|
|
NM_000535.7(PMS2):c.909C>A (p.Cys303Ter)
|
|
|
NM_000535.7(PMS2):c.939T>G (p.Tyr313Ter)
|
rs1562651617
|
|
NM_000535.7(PMS2):c.949C>T (p.Gln317Ter)
|
rs143277125
|
|
NM_000535.7(PMS2):c.960del (p.Phe320fs)
|
|
|
NM_000535.7(PMS2):c.972del (p.Asn324fs)
|
|
|
NM_000535.7(PMS2):c.986C>G (p.Ser329Ter)
|
rs1461669945
|
|
NM_000535.7(PMS2):c.993C>A (p.Cys331Ter)
|
|
|
NM_000543.5(SMPD1):c.1826GCC[1] (p.Arg610del)
|
rs120074118
|
|
NM_000543.5(SMPD1):c.996del (p.Phe333fs)
|
rs387906289
|
|
NM_000546.6(TP53):c.1043_1064delinsGCA (p.Leu348fs)
|
|
|
NM_000546.6(TP53):c.261_263delinsTGGCCCCTGCCCCTCCTGGCCCCTGCCCCTG (p.Ala88fs)
|
|
|
NM_000546.6(TP53):c.38dup (p.Leu14fs)
|
rs1555527002
|
|
NM_000546.6(TP53):c.499C>T (p.Gln167Ter)
|
rs1555526097
|
|
NM_000546.6(TP53):c.535C>G (p.His179Asp)
|
rs587780070
|
|
NM_000546.6(TP53):c.545_546insGTGAG (p.Cys182delinsTrpTer)
|
|
|
NM_000546.6(TP53):c.742C>T (p.Arg248Trp)
|
rs121912651
|
|
NM_000546.6(TP53):c.743_744insCCGCCCATGAACCTCCGGCATGAACCG (p.Pro250_Ile251insTerArgPro)
|
|
|
NM_000546.6(TP53):c.818G>A (p.Arg273His)
|
rs28934576
|
|
NM_000546.6(TP53):c.878_912dup (p.Lys305fs)
|
|
|
NM_000548.5(TSC2):c.2713C>T (p.Arg905Trp)
|
rs45517258
|
|
NM_000548.5(TSC2):c.3094C>T (p.Arg1032Ter)
|
rs45465195
|
|
NM_000548.5(TSC2):c.4573_4574del (p.Gln1525fs)
|
rs2090620654
|
|
NM_000548.5(TSC2):c.618del (p.Cys206fs)
|
rs2151070992
|
|
NM_000551.4(VHL):c.170_177del (p.Gly57fs)
|
|
|
NM_000551.4(VHL):c.213del (p.Ser72fs)
|
|
|
NM_000551.4(VHL):c.259_260del (p.Val87fs)
|
|
|
NM_000551.4(VHL):c.262T>C (p.Trp88Arg)
|
rs1553619431
|
|
NM_000551.4(VHL):c.331A>C (p.Ser111Arg)
|
|
|
NM_000551.4(VHL):c.340G>C (p.Gly114Arg)
|
rs869025636
|
|
NM_000551.4(VHL):c.341-1G>T
|
|
|
NM_000551.4(VHL):c.341-2A>T
|
|
|
NM_000551.4(VHL):c.381del (p.Leu128fs)
|
rs1559428107
|
|
NM_000551.4(VHL):c.402del (p.Glu134fs)
|
rs869025646
|
|
NM_000551.4(VHL):c.444del (p.Phe148fs)
|
rs869025653
|
|
NM_000551.4(VHL):c.548C>A (p.Ser183Ter)
|
rs5030823
|
|
NM_000551.4(VHL):c.555_557del (p.Tyr185_Glu186delinsTer)
|
|
|
NM_000642.3(AGL):c.4456del (p.Ser1486fs)
|
rs113994134
|
|
NM_001048174.2(MUTYH):c.376_377del (p.Gln126fs)
|
rs2149164388
|
|
NM_001048174.2(MUTYH):c.381del (p.Lys127fs)
|
rs1553129349
|
|
NM_001048174.2(MUTYH):c.497dup (p.Glu167fs)
|
|
|
NM_001048174.2(MUTYH):c.619del (p.Val207fs)
|
|
|
NM_001048174.2(MUTYH):c.862C>T (p.Gln288Ter)
|
|
|
NM_001048174.2(MUTYH):c.960del (p.Trp321fs)
|
|
|
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)
|
rs398123555
|
|
NM_001173990.3(TMEM216):c.218G>T (p.Arg73Leu)
|
rs201108965
|
|
NM_001304718.2(PTEN):c.-541-5533del
|
rs2132232095
|
|
NM_001349956.2(CHEK2):c.444+119del
|
|
|
NM_001354621.2(MLH1):c.-139-2804_-139-2801del
|
rs267607799
|
|
NM_001354629.2(MLH1):c.208-3445_208-3433del
|
rs1057517543
|
|
NM_001354629.2(MLH1):c.208-3445_208-3439del
|
rs730881734
|
|
NM_001360.3(DHCR7):c.1055G>A (p.Arg352Gln)
|
rs121909768
|
|
NM_001360.3(DHCR7):c.964-1G>C
|
rs138659167
|
|
NM_001365088.1(SLC12A6):c.2436+1del
|
rs515726215
|
|
NM_001370259.2(MEN1):c.1253_1256del (p.Asp418fs)
|
rs1592637081
|
|
NM_001370259.2(MEN1):c.1429G>T (p.Glu477Ter)
|
rs863224526
|
|
NM_001370259.2(MEN1):c.1456G>T (p.Glu486Ter)
|
rs2136089217
|
|
NM_001370259.2(MEN1):c.249_252del (p.Ile85fs)
|
rs587776841
|
|
NM_001370259.2(MEN1):c.3G>A (p.Met1Ile)
|
rs786204242
|
|
NM_001370259.2(MEN1):c.402del (p.Phe134fs)
|
rs397515385
|
|
NM_001370259.2(MEN1):c.605del (p.Gly202fs)
|
|
|
NM_001370259.2(MEN1):c.784-9G>A
|
rs794728625
|
|
NM_001370259.2(MEN1):c.828C>A (p.Tyr276Ter)
|
rs1060503789
|
|
NM_001370259.2(MEN1):c.969C>A (p.Tyr323Ter)
|
rs750904332
|
|
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs)
|
rs80338684
|
|
NM_001407314.1(PALB2):c.49-1193del
|
rs1597091518
|
|
NM_001876.4(CPT1A):c.733C>T (p.Arg245Ter)
|
rs767241290
|
|
NM_001903.5(CTNNA1):c.1006del (p.Glu336fs)
|
|
|
NM_001903.5(CTNNA1):c.1046C>A (p.Ser349Ter)
|
|
|
NM_001903.5(CTNNA1):c.1075G>T (p.Glu359Ter)
|
|
|
NM_001903.5(CTNNA1):c.1246_1249del (p.Val416fs)
|
rs1426385729
|
|
NM_001903.5(CTNNA1):c.1292_1295del (p.Ile431fs)
|
rs1754363697
|
|
NM_001903.5(CTNNA1):c.1325_1328del (p.Asn442fs)
|
|
|
NM_001903.5(CTNNA1):c.1330dup (p.Glu444fs)
|
rs1758714268
|
|
NM_001903.5(CTNNA1):c.1351C>T (p.Arg451Ter)
|
rs201498915
|
|
NM_001903.5(CTNNA1):c.1464dup (p.Glu489fs)
|
|
|
NM_001903.5(CTNNA1):c.1473G>A (p.Trp491Ter)
|
|
|
NM_001903.5(CTNNA1):c.1474dup (p.Glu492fs)
|
|
|
NM_001903.5(CTNNA1):c.1480C>T (p.Gln494Ter)
|
|
|
NM_001903.5(CTNNA1):c.151_152del (p.Lys51fs)
|
rs2149656252
|
|
NM_001903.5(CTNNA1):c.1581dup (p.Ile528fs)
|
rs2150288001
|
|
NM_001903.5(CTNNA1):c.1636C>T (p.Arg546Ter)
|
rs1763609978
|
|
NM_001903.5(CTNNA1):c.1636del (p.Arg546fs)
|
|
|
NM_001903.5(CTNNA1):c.1815del (p.Met606fs)
|
|
|
NM_001903.5(CTNNA1):c.1822G>T (p.Glu608Ter)
|
|
|
NM_001903.5(CTNNA1):c.1906del (p.Glu636fs)
|
|
|
NM_001903.5(CTNNA1):c.1928_1929del (p.Asp642_Phe643insTer)
|
|
|
NM_001903.5(CTNNA1):c.1969C>T (p.Gln657Ter)
|
rs1764805365
|
|
NM_001903.5(CTNNA1):c.2023C>T (p.Gln675Ter)
|
rs1580907792
|
|
NM_001903.5(CTNNA1):c.214_215del (p.Phe72fs)
|
|
|
NM_001903.5(CTNNA1):c.292C>T (p.Arg98Ter)
|
rs773235871
|
|
NM_001903.5(CTNNA1):c.361C>T (p.Arg121Ter)
|
rs1043413100
|
|
NM_001903.5(CTNNA1):c.382dup (p.Ala128fs)
|
|
|
NM_001903.5(CTNNA1):c.39G>A (p.Trp13Ter)
|
|
|
NM_001903.5(CTNNA1):c.406dup (p.Thr136fs)
|
rs1581105774
|
|
NM_001903.5(CTNNA1):c.580del (p.Arg194fs)
|
|
|
NM_001903.5(CTNNA1):c.608_623del (p.His203fs)
|
|
|
NM_001903.5(CTNNA1):c.660_666del (p.Tyr222fs)
|
|
|
NM_001903.5(CTNNA1):c.68dup (p.Ala24fs)
|
rs2149651992
|
|
NM_001903.5(CTNNA1):c.739C>T (p.Gln247Ter)
|
|
|
NM_001903.5(CTNNA1):c.86del (p.Leu29fs)
|
rs745411817
|
|
NM_001903.5(CTNNA1):c.892G>T (p.Glu298Ter)
|
|
|
NM_001903.5(CTNNA1):c.919del (p.Glu307fs)
|
rs1760848495
|
|
NM_001903.5(CTNNA1):c.99del (p.Thr34fs)
|
|
|
NM_002439.5(MSH3):c.1014dup (p.Leu339fs)
|
|
|
NM_002439.5(MSH3):c.1017_1018insC (p.Ile340fs)
|
|
|
NM_002439.5(MSH3):c.1035del (p.Pro346_Leu347insTer)
|
rs1580553607
|
|
NM_002439.5(MSH3):c.1040del (p.Leu347fs)
|
rs1580553624
|
|
NM_002439.5(MSH3):c.1060dup (p.Val354fs)
|
rs1580553669
|
|
NM_002439.5(MSH3):c.1087dup (p.Thr363fs)
|
rs1234762807
|
|
NM_002439.5(MSH3):c.1148del (p.Lys383fs)
|
rs587776701
|
|
NM_002439.5(MSH3):c.1148dup (p.Asn385fs)
|
rs587776701
|
|
NM_002439.5(MSH3):c.1190del (p.Thr397fs)
|
|
|
NM_002439.5(MSH3):c.1254dup (p.Ser419fs)
|
|
|
NM_002439.5(MSH3):c.1256C>G (p.Ser419Ter)
|
rs578113271
|
|
NM_002439.5(MSH3):c.1264C>T (p.Gln422Ter)
|
rs1580556516
|
|
NM_002439.5(MSH3):c.1303C>T (p.Gln435Ter)
|
|
|
NM_002439.5(MSH3):c.1305_1308del (p.Thr436fs)
|
|
|
NM_002439.5(MSH3):c.1308_1309insAA (p.Glu437fs)
|
|
|
NM_002439.5(MSH3):c.1310_1311del (p.Glu437fs)
|
rs757194485
|
|
NM_002439.5(MSH3):c.1348del (p.Asp450fs)
|
|
|
NM_002439.5(MSH3):c.1366G>T (p.Glu456Ter)
|
rs963234468
|
|
NM_002439.5(MSH3):c.1384del (p.Tyr462fs)
|
|
|
NM_002439.5(MSH3):c.1395C>G (p.Tyr465Ter)
|
|
|
NM_002439.5(MSH3):c.1418_1419del (p.Thr473fs)
|
rs772520703
|
|
NM_002439.5(MSH3):c.1421_1422del (p.Glu474fs)
|
rs778610412
|
|
NM_002439.5(MSH3):c.1439del (p.Thr480fs)
|
|
|
NM_002439.5(MSH3):c.1468_1469insAT (p.Ser490fs)
|
|
|
NM_002439.5(MSH3):c.1473dup (p.Ile492fs)
|
|
|
NM_002439.5(MSH3):c.1499_1502dup (p.Ser502fs)
|
rs1743353294
|
|
NM_002439.5(MSH3):c.14del (p.Lys5fs)
|
rs1749186228
|
|
NM_002439.5(MSH3):c.1510_1513del (p.Ala504fs)
|
|
|
NM_002439.5(MSH3):c.1524del (p.Lys508fs)
|
rs1580589397
|
|
NM_002439.5(MSH3):c.1527C>G (p.Tyr509Ter)
|
|
|
NM_002439.5(MSH3):c.1534G>T (p.Glu512Ter)
|
rs1379605717
|
|
NM_002439.5(MSH3):c.1536del (p.Glu512fs)
|
|
|
NM_002439.5(MSH3):c.1538del (p.Phe513fs)
|
|
|
NM_002439.5(MSH3):c.1546G>T (p.Glu516Ter)
|
|
|
NM_002439.5(MSH3):c.1554_1558delinsCCTA (p.Met518fs)
|
rs1743355453
|
|
NM_002439.5(MSH3):c.1575dup (p.Lys526Ter)
|
rs2112866746
|
|
NM_002439.5(MSH3):c.1611_1614del (p.Ile537fs)
|
rs2112866803
|
|
NM_002439.5(MSH3):c.1625dup (p.Leu542fs)
|
rs775863622
|
|
NM_002439.5(MSH3):c.1636dup (p.Glu546fs)
|
|
|
NM_002439.5(MSH3):c.1644del (p.Gln549fs)
|
rs2112866857
|
|
NM_002439.5(MSH3):c.1645C>T (p.Gln549Ter)
|
|
|
NM_002439.5(MSH3):c.1648_1649dup (p.Asn550fs)
|
rs1580597397
|
|
NM_002439.5(MSH3):c.1679del (p.Leu560fs)
|
|
|
NM_002439.5(MSH3):c.1686G>A (p.Trp562Ter)
|
rs1395288001
|
|
NM_002439.5(MSH3):c.1709C>G (p.Ser570Ter)
|
|
|
NM_002439.5(MSH3):c.1730dup (p.Lys578fs)
|
rs2112868948
|
|
NM_002439.5(MSH3):c.1736G>A (p.Trp579Ter)
|
rs2112868963
|
|
NM_002439.5(MSH3):c.1738del (p.Trp579_Val580insTer)
|
|
|
NM_002439.5(MSH3):c.1744C>T (p.Gln582Ter)
|
rs750104015
|
|
NM_002439.5(MSH3):c.1758_1762del (p.Leu587fs)
|
rs776738086
|
|
NM_002439.5(MSH3):c.1765G>T (p.Glu589Ter)
|
|
|
NM_002439.5(MSH3):c.1772del (p.Asn591fs)
|
rs1580027407
|
|
NM_002439.5(MSH3):c.1828C>T (p.Gln610Ter)
|
rs1360794165
|
|
NM_002439.5(MSH3):c.1851del (p.Lys617fs)
|
|
|
NM_002439.5(MSH3):c.1869_1873delinsCATTTA (p.Arg623fs)
|
|
|
NM_002439.5(MSH3):c.1877_1878del (p.Leu625_Cys626insTer)
|
rs1260807695
|
|
NM_002439.5(MSH3):c.1885del (p.Tyr629fs)
|
|
|
NM_002439.5(MSH3):c.1890del (p.His630fs)
|
|
|
NM_002439.5(MSH3):c.1896dup (p.Cys633fs)
|
|
|
NM_002439.5(MSH3):c.1932_1941del (p.Thr644_Leu645insTer)
|
|
|
NM_002439.5(MSH3):c.1935_1938dup (p.His647fs)
|
rs1580033751
|
|
NM_002439.5(MSH3):c.2018T>G (p.Leu673Ter)
|
|
|
NM_002439.5(MSH3):c.2018del (p.Ile672_Leu673insTer)
|
|
|
NM_002439.5(MSH3):c.2018dup (p.Leu673fs)
|
rs1744152835
|
|
NM_002439.5(MSH3):c.2055_2058del (p.His684_Tyr685insTer)
|
|
|
NM_002439.5(MSH3):c.2092dup (p.Asp698fs)
|
|
|
NM_002439.5(MSH3):c.2101G>T (p.Glu701Ter)
|
|
|
NM_002439.5(MSH3):c.2107_2110del (p.Phe703fs)
|
rs1455445683
|
|
NM_002439.5(MSH3):c.2110A>T (p.Lys704Ter)
|
|
|
NM_002439.5(MSH3):c.2123del (p.Asp708fs)
|
|
|
NM_002439.5(MSH3):c.2140_2141dup (p.Lys716fs)
|
|
|
NM_002439.5(MSH3):c.2141del (p.Lys714fs)
|
|
|
NM_002439.5(MSH3):c.2141dup (p.Arg715fs)
|
rs751236312
|
|
NM_002439.5(MSH3):c.2191C>T (p.Gln731Ter)
|
|
|
NM_002439.5(MSH3):c.2216dup (p.Asn739fs)
|
rs1580035033
|
|
NM_002439.5(MSH3):c.2227C>T (p.Gln743Ter)
|
rs1350652736
|
|
NM_002439.5(MSH3):c.2227_2228del (p.Gln743fs)
|
rs1371600437
|
|
NM_002439.5(MSH3):c.2229dup (p.Tyr744fs)
|
|
|
NM_002439.5(MSH3):c.2243C>G (p.Ser748Ter)
|
|
|
NM_002439.5(MSH3):c.2248C>T (p.Gln750Ter)
|
|
|
NM_002439.5(MSH3):c.2276_2277del (p.Ser759fs)
|
rs1416092389
|
|
NM_002439.5(MSH3):c.2285del (p.Ser762fs)
|
|
|
NM_002439.5(MSH3):c.2293_2294insT (p.Pro765fs)
|
|
|
NM_002439.5(MSH3):c.2367C>G (p.Tyr789Ter)
|
|
|
NM_002439.5(MSH3):c.2367_2368del (p.Tyr789_Arg790delinsTer)
|
|
|
NM_002439.5(MSH3):c.2389G>T (p.Glu797Ter)
|
rs748016039
|
|
NM_002439.5(MSH3):c.2392C>T (p.Gln798Ter)
|
rs2112007877
|
|
NM_002439.5(MSH3):c.2412dup (p.Ala805fs)
|
|
|
NM_002439.5(MSH3):c.2420G>A (p.Trp807Ter)
|
rs2112007993
|
|
NM_002439.5(MSH3):c.2421G>A (p.Trp807Ter)
|
rs1744356274
|
|
NM_002439.5(MSH3):c.2426_2427del (p.Asp809fs)
|
|
|
NM_002439.5(MSH3):c.2429delinsAG (p.Phe810Ter)
|
|
|
NM_002439.5(MSH3):c.242del (p.Thr81fs)
|
rs752795642
|
|
NM_002439.5(MSH3):c.2499C>A (p.Cys833Ter)
|
|
|
NM_002439.5(MSH3):c.253A>T (p.Arg85Ter)
|
rs1749286503
|
|
NM_002439.5(MSH3):c.254_255del (p.Arg85fs)
|
|
|
NM_002439.5(MSH3):c.2550_2554del (p.Val851fs)
|
|
|
NM_002439.5(MSH3):c.2554C>T (p.Gln852Ter)
|
|
|
NM_002439.5(MSH3):c.2554_2561del (p.Gln852fs)
|
|
|
NM_002439.5(MSH3):c.2575del (p.Val858_Ile859insTer)
|
|
|
NM_002439.5(MSH3):c.260_263del (p.Lys87fs)
|
rs756190979
|
|
NM_002439.5(MSH3):c.2620C>T (p.Gln874Ter)
|
rs2112026812
|
|
NM_002439.5(MSH3):c.263_267del (p.Lys88fs)
|
rs777843647
|
|
NM_002439.5(MSH3):c.2648del (p.Asp883fs)
|
rs1580053760
|
|
NM_002439.5(MSH3):c.2668_2671del (p.Glu889_Arg890insTer)
|
rs1561486632
|
|
NM_002439.5(MSH3):c.2670_2671dup (p.Val891fs)
|
|
|
NM_002439.5(MSH3):c.2673_2680delinsT (p.Met892fs)
|
|
|
NM_002439.5(MSH3):c.2674dup (p.Met892fs)
|
rs2112054145
|
|
NM_002439.5(MSH3):c.2686G>T (p.Gly896Ter)
|
rs777054839
|
|
NM_002439.5(MSH3):c.2739del (p.Ile914fs)
|
rs2112054380
|
|
NM_002439.5(MSH3):c.2749C>T (p.Gln917Ter)
|
rs1745048937
|
|
NM_002439.5(MSH3):c.2760del (p.Tyr921fs)
|
rs751326348
|
|
NM_002439.5(MSH3):c.2763T>A (p.Tyr921Ter)
|
|
|
NM_002439.5(MSH3):c.2785_2786del (p.Ile929fs)
|
|
|
NM_002439.5(MSH3):c.2791delinsTC (p.Ile931fs)
|
|
|
NM_002439.5(MSH3):c.2807del (p.Phe936fs)
|
rs1580066605
|
|
NM_002439.5(MSH3):c.2830_2831dup (p.Asn944fs)
|
|
|
NM_002439.5(MSH3):c.2830_2833del (p.Asn944fs)
|
|
|
NM_002439.5(MSH3):c.2838T>A (p.Tyr946Ter)
|
|
|
NM_002439.5(MSH3):c.2838_2839dup (p.Lys947fs)
|
|
|
NM_002439.5(MSH3):c.2871_2874del (p.Asp958fs)
|
rs1580091499
|
|
NM_002439.5(MSH3):c.2876_2877del (p.Thr959fs)
|
rs1580091512
|
|
NM_002439.5(MSH3):c.2887del (p.Ile963fs)
|
rs1745878088
|
|
NM_002439.5(MSH3):c.2893A>T (p.Lys965Ter)
|
|
|
NM_002439.5(MSH3):c.2962del (p.Ala988fs)
|
|
|
NM_002439.5(MSH3):c.296dup (p.Lys100fs)
|
rs1580540688
|
|
NM_002439.5(MSH3):c.2990del (p.Phe997fs)
|
|
|
NM_002439.5(MSH3):c.302_306del (p.Val101fs)
|
rs1749288569
|
|
NM_002439.5(MSH3):c.3039_3042del (p.Cys1015fs)
|
|
|
NM_002439.5(MSH3):c.3059dup (p.Asn1020fs)
|
|
|
NM_002439.5(MSH3):c.3064_3067del (p.Ser1022fs)
|
|
|
NM_002439.5(MSH3):c.307A>T (p.Lys103Ter)
|
|
|
NM_002439.5(MSH3):c.3085del (p.His1029fs)
|
|
|
NM_002439.5(MSH3):c.309dup (p.Val104fs)
|
|
|
NM_002439.5(MSH3):c.3133_3137delinsACA (p.Ala1045fs)
|
|
|
NM_002439.5(MSH3):c.3142C>T (p.Gln1048Ter)
|
rs2112128589
|
|
NM_002439.5(MSH3):c.3160del (p.Thr1054fs)
|
|
|
NM_002439.5(MSH3):c.316C>T (p.Gln106Ter)
|
rs149350323
|
|
NM_002439.5(MSH3):c.3172C>T (p.Gln1058Ter)
|
|
|
NM_002439.5(MSH3):c.3215del (p.Val1072fs)
|
|
|
NM_002439.5(MSH3):c.3255_3256dup (p.Ala1086fs)
|
|
|
NM_002439.5(MSH3):c.337delinsTT (p.Leu113fs)
|
|
|
NM_002439.5(MSH3):c.347_348del (p.Ser116fs)
|
|
|
NM_002439.5(MSH3):c.36del (p.Ala13fs)
|
|
|
NM_002439.5(MSH3):c.392del (p.Val130_Ser131insTer)
|
rs1743016889
|
|
NM_002439.5(MSH3):c.408del (p.Lys136fs)
|
|
|
NM_002439.5(MSH3):c.424dup (p.Cys142fs)
|
|
|
NM_002439.5(MSH3):c.438_439delinsG (p.Pro147fs)
|
|
|
NM_002439.5(MSH3):c.442C>T (p.Gln148Ter)
|
|
|
NM_002439.5(MSH3):c.476_477del (p.Arg159fs)
|
|
|
NM_002439.5(MSH3):c.47C>G (p.Ser16Ter)
|
|
|
NM_002439.5(MSH3):c.495del (p.Lys165fs)
|
|
|
NM_002439.5(MSH3):c.557C>A (p.Ser186Ter)
|
|
|
NM_002439.5(MSH3):c.565C>T (p.Gln189Ter)
|
rs1580546793
|
|
NM_002439.5(MSH3):c.586del (p.Thr196fs)
|
rs771721952
|
|
NM_002439.5(MSH3):c.593_594del (p.Leu197_Phe198insTer)
|
|
|
NM_002439.5(MSH3):c.61C>T (p.Gln21Ter)
|
|
|
NM_002439.5(MSH3):c.638T>G (p.Leu213Ter)
|
|
|
NM_002439.5(MSH3):c.640C>T (p.Gln214Ter)
|
rs952650934
|
|
NM_002439.5(MSH3):c.703C>T (p.Gln235Ter)
|
rs371356175
|
|
NM_002439.5(MSH3):c.708_711del (p.Gln235_Tyr236insTer)
|
|
|
NM_002439.5(MSH3):c.747T>A (p.Cys249Ter)
|
rs1272356369
|
|
NM_002439.5(MSH3):c.751G>T (p.Glu251Ter)
|
|
|
NM_002439.5(MSH3):c.763A>T (p.Lys255Ter)
|
|
|
NM_002439.5(MSH3):c.781G>T (p.Glu261Ter)
|
|
|
NM_002439.5(MSH3):c.790G>T (p.Glu264Ter)
|
rs766997264
|
|
NM_002439.5(MSH3):c.817_820del (p.Tyr273fs)
|
|
|
NM_002439.5(MSH3):c.827del (p.His275_Leu276insTer)
|
rs2112813769
|
|
NM_002439.5(MSH3):c.846del (p.Ala283fs)
|
|
|
NM_002439.5(MSH3):c.854dup (p.Pro286fs)
|
|
|
NM_002439.5(MSH3):c.85C>T (p.Gln29Ter)
|
|
|
NM_002439.5(MSH3):c.85del (p.Gln29fs)
|
|
|
NM_002439.5(MSH3):c.870dup (p.Phe291fs)
|
|
|
NM_002439.5(MSH3):c.873_876del (p.Val292fs)
|
rs763478027
|
|
NM_002439.5(MSH3):c.90dup (p.Thr31fs)
|
|
|
NM_002439.5(MSH3):c.928del (p.Thr310fs)
|
rs1749751715
|
|
NM_002439.5(MSH3):c.930_931del (p.Glu311fs)
|
|
|
NM_002439.5(MSH3):c.957del (p.Asp320fs)
|
|
|
NM_002439.5(MSH3):c.971C>G (p.Ser324Ter)
|
|
|
NM_002528.7(NTHL1):c.-9G>T
|
|
|
NM_002528.7(NTHL1):c.11T>A (p.Leu4Ter)
|
rs1413587495
|
|
NM_002528.7(NTHL1):c.138del (p.Pro46_Val47insTer)
|
|
|
NM_002528.7(NTHL1):c.160C>T (p.Gln54Ter)
|
rs1596223384
|
|
NM_002528.7(NTHL1):c.160_161del (p.Gln54fs)
|
rs2150947238
|
|
NM_002528.7(NTHL1):c.164_165del (p.Arg55fs)
|
rs1290880136
|
|
NM_002528.7(NTHL1):c.185del (p.Gly62fs)
|
|
|
NM_002528.7(NTHL1):c.199A>T (p.Lys67Ter)
|
|
|
NM_002528.7(NTHL1):c.203del (p.Gly68fs)
|
rs1555492819
|
|
NM_002528.7(NTHL1):c.211dup (p.Ala71fs)
|
rs745671590
|
|
NM_002528.7(NTHL1):c.226del (p.Val76fs)
|
|
|
NM_002528.7(NTHL1):c.232del (p.Val78fs)
|
rs1314290585
|
|
NM_002528.7(NTHL1):c.265dup (p.Val89fs)
|
rs2150945928
|
|
NM_002528.7(NTHL1):c.305_315del (p.Val102fs)
|
|
|
NM_002528.7(NTHL1):c.322G>T (p.Glu108Ter)
|
|
|
NM_002528.7(NTHL1):c.34_53dup (p.Pro21fs)
|
|
|
NM_002528.7(NTHL1):c.350del (p.Pro117fs)
|
rs763525759
|
|
NM_002528.7(NTHL1):c.350dup (p.Val119fs)
|
rs763525759
|
|
NM_002528.7(NTHL1):c.353dup (p.Val119fs)
|
|
|
NM_002528.7(NTHL1):c.356_359dup (p.Arg121fs)
|
rs759955745
|
|
NM_002528.7(NTHL1):c.357dup (p.Arg120fs)
|
|
|
NM_002528.7(NTHL1):c.366C>G (p.Tyr122Ter)
|
rs371328106
|
|
NM_002528.7(NTHL1):c.391_392del (p.Ser131fs)
|
rs1596220478
|
|
NM_002528.7(NTHL1):c.409C>T (p.Gln137Ter)
|
rs758667255
|
|
NM_002528.7(NTHL1):c.428dup (p.Met143fs)
|
|
|
NM_002528.7(NTHL1):c.452_462del (p.Leu151fs)
|
|
|
NM_002528.7(NTHL1):c.460del (p.Asp154fs)
|
rs1596220332
|
|
NM_002528.7(NTHL1):c.469del (p.Leu157fs)
|
|
|
NM_002528.7(NTHL1):c.477_480del (p.Asp160fs)
|
|
|
NM_002528.7(NTHL1):c.48_60dup (p.Pro21fs)
|
|
|
NM_002528.7(NTHL1):c.510del (p.Val171fs)
|
rs1567369975
|
|
NM_002528.7(NTHL1):c.542del (p.Ile181fs)
|
|
|
NM_002528.7(NTHL1):c.559_562del (p.Ile187fs)
|
|
|
NM_002528.7(NTHL1):c.565C>T (p.Gln189Ter)
|
|
|
NM_002528.7(NTHL1):c.568C>T (p.Gln190Ter)
|
rs1455020789
|
|
NM_002528.7(NTHL1):c.625_626del (p.Val209fs)
|
rs2150941243
|
|
NM_002528.7(NTHL1):c.666G>A (p.Trp222Ter)
|
|
|
NM_002528.7(NTHL1):c.668del (p.Gly223fs)
|
|
|
NM_002528.7(NTHL1):c.709dup (p.Ile237fs)
|
rs2150938411
|
|
NM_002528.7(NTHL1):c.716del (p.Asn239fs)
|
|
|
NM_002528.7(NTHL1):c.729G>A (p.Trp243Ter)
|
|
|
NM_002528.7(NTHL1):c.730_731del (p.Thr244fs)
|
|
|
NM_002528.7(NTHL1):c.736A>T (p.Lys246Ter)
|
rs879181418
|
|
NM_002528.7(NTHL1):c.763dup (p.Arg255fs)
|
|
|
NM_002528.7(NTHL1):c.805G>T (p.Glu269Ter)
|
|
|
NM_002528.7(NTHL1):c.80delinsGG (p.Glu27fs)
|
rs2084517687
|
|
NM_002528.7(NTHL1):c.84del (p.Pro30fs)
|
rs2150957715
|
|
NM_002878.4(RAD51D):c.200_218del (p.Asn67fs)
|
|
|
NM_002878.4(RAD51D):c.26_27delinsAA (p.Cys9Ter)
|
|
|
NM_002878.4(RAD51D):c.270_271dup (p.Lys91fs)
|
rs753862052
|
|
NM_002878.4(RAD51D):c.326dup (p.Gly110fs)
|
rs730882119
|
|
NM_002878.4(RAD51D):c.478C>T (p.Gln160Ter)
|
rs1057521922
|
|
NM_002878.4(RAD51D):c.740_741dup (p.Thr248Ter)
|
rs1555567197
|
|
NM_002878.4(RAD51D):c.757C>T (p.Arg253Ter)
|
rs137886232
|
|
NM_002878.4(RAD51D):c.81del (p.Val28fs)
|
rs1064793952
|
|
NM_002878.4(RAD51D):c.85del (p.Val29fs)
|
rs1057517586
|
|
NM_002878.4(RAD51D):c.94_95del (p.Val32fs)
|
rs786203137
|
|
NM_003000.3(SDHB):c.166_170del (p.Pro56fs)
|
rs786202100
|
|
NM_003000.3(SDHB):c.18_21delinsACT (p.Ser8fs)
|
|
|
NM_003000.3(SDHB):c.1A>G (p.Met1Val)
|
|
|
NM_003000.3(SDHB):c.200+1G>A
|
rs2101541309
|
|
NM_003000.3(SDHB):c.287-2A>G
|
rs1064794270
|
|
NM_003000.3(SDHB):c.505C>T (p.Gln169Ter)
|
rs1553177676
|
|
NM_003000.3(SDHB):c.574T>C (p.Cys192Arg)
|
rs786202732
|
|
NM_003000.3(SDHB):c.587G>A (p.Cys196Tyr)
|
rs876658367
|
|
NM_003000.3(SDHB):c.603G>A (p.Trp201Ter)
|
|
|
NM_003000.3(SDHB):c.640C>T (p.Gln214Ter)
|
rs876658461
|
|
NM_003000.3(SDHB):c.653G>A (p.Trp218Ter)
|
rs1553177290
|
|
NM_003000.3(SDHB):c.71dup (p.Ala25fs)
|
rs1131691057
|
|
NM_003000.3(SDHB):c.72+1G>T
|
rs587782703
|
|
NM_003001.5(SDHC):c.107_108del (p.Glu36fs)
|
|
|
NM_003001.5(SDHC):c.118del (p.Arg40fs)
|
|
|
NM_003001.5(SDHC):c.177C>A (p.Tyr59Ter)
|
|
|
NM_003001.5(SDHC):c.49del (p.His17fs)
|
|
|
NM_003002.4(SDHD):c.129G>A (p.Trp43Ter)
|
rs104894308
|
|
NM_003002.4(SDHD):c.337_340del (p.Asp113fs)
|
rs587776648
|
|
NM_003002.4(SDHD):c.33C>A (p.Cys11Ter)
|
rs104894309
|
|
NM_003002.4(SDHD):c.395C>G (p.Ser132Ter)
|
|
|
NM_003002.4(SDHD):c.49C>T (p.Arg17Ter)
|
rs1314133983
|
|
NM_003060.4(SLC22A5):c.760C>T (p.Arg254Ter)
|
rs121908893
|
|
NM_004004.6(GJB2):c.235del (p.Leu79fs)
|
rs80338943
|
|
NM_004004.6(GJB2):c.313_326del (p.Lys105fs)
|
rs111033253
|
|
NM_004004.6(GJB2):c.355GAG[1] (p.Glu120del)
|
rs80338947
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004168.4(SDHA):c.1258C>T (p.Gln420Ter)
|
rs1579407009
|
|
NM_004168.4(SDHA):c.1283_1298del (p.Gln428fs)
|
|
|
NM_004168.4(SDHA):c.1473del (p.Glu491fs)
|
|
|
NM_004168.4(SDHA):c.1579del (p.Arg527fs)
|
rs1579437839
|
|
NM_004168.4(SDHA):c.1615dup (p.Ile539fs)
|
rs1554001843
|
|
NM_004168.4(SDHA):c.1665_1670delinsTCCC (p.Met556fs)
|
|
|
NM_004168.4(SDHA):c.1A>C (p.Met1Leu)
|
rs1061517
|
|
NM_004168.4(SDHA):c.1A>T (p.Met1Leu)
|
rs1061517
|
|
NM_004168.4(SDHA):c.242_243insA (p.Ser81_Glu82insTer)
|
rs2126542910
|
|
NM_004168.4(SDHA):c.244G>T (p.Glu82Ter)
|
|
|
NM_004168.4(SDHA):c.2T>A (p.Met1Lys)
|
rs750380279
|
|
NM_004168.4(SDHA):c.2T>C (p.Met1Thr)
|
rs750380279
|
|
NM_004168.4(SDHA):c.324dup (p.Ala109fs)
|
|
|
NM_004168.4(SDHA):c.356G>A (p.Trp119Ter)
|
rs1734957331
|
|
NM_004168.4(SDHA):c.403del (p.Asp135fs)
|
|
|
NM_004168.4(SDHA):c.55_57delinsCA (p.Ala19fs)
|
|
|
NM_004168.4(SDHA):c.615T>A (p.Tyr205Ter)
|
rs876658486
|
|
NM_004168.4(SDHA):c.637dup (p.Thr213fs)
|
|
|
NM_004168.4(SDHA):c.722_726del (p.Asp241fs)
|
rs1553998229
|
|
NM_004168.4(SDHA):c.777C>G (p.Tyr259Ter)
|
|
|
NM_004168.4(SDHA):c.786del (p.Tyr263fs)
|
rs1553998613
|
|
NM_004168.4(SDHA):c.870dup (p.Glu291fs)
|
|
|
NM_004168.4(SDHA):c.880C>T (p.Gln294Ter)
|
rs1560992565
|
|
NM_004168.4(SDHA):c.990C>A (p.Tyr330Ter)
|
|
|
NM_004168.4(SDHA):c.990del (p.Arg329_Tyr330insTer)
|
rs886041867
|
|
NM_004168.4(SDHA):c.995_996del (p.Pro332fs)
|
rs1560994766
|
|
NM_004168.4(SDHA):c.99dup (p.His34fs)
|
|
|
NM_004329.3(BMPR1A):c.1029C>A (p.Cys343Ter)
|
|
|
NM_004329.3(BMPR1A):c.1029_1032delinsGT (p.Cys343fs)
|
|
|
NM_004329.3(BMPR1A):c.1041del (p.Glu348fs)
|
|
|
NM_004329.3(BMPR1A):c.1061del (p.Gly354fs)
|
rs1554891089
|
|
NM_004329.3(BMPR1A):c.111dup (p.Asp38fs)
|
|
|
NM_004329.3(BMPR1A):c.1127dup (p.Cys376fs)
|
|
|
NM_004329.3(BMPR1A):c.1208del (p.Gly403fs)
|
|
|
NM_004329.3(BMPR1A):c.1230del (p.Glu411fs)
|
|
|
NM_004329.3(BMPR1A):c.1254del (p.Asn418fs)
|
|
|
NM_004329.3(BMPR1A):c.1255A>T (p.Lys419Ter)
|
rs2133607319
|
|
NM_004329.3(BMPR1A):c.1265dup (p.Gln423fs)
|
|
|
NM_004329.3(BMPR1A):c.1275C>A (p.Tyr425Ter)
|
|
|
NM_004329.3(BMPR1A):c.128_137del (p.Lys43fs)
|
|
|
NM_004329.3(BMPR1A):c.139G>T (p.Gly47Ter)
|
rs1564714809
|
|
NM_004329.3(BMPR1A):c.1480C>T (p.Arg494Ter)
|
rs786201040
|
|
NM_004329.3(BMPR1A):c.158dup (p.Asp54fs)
|
|
|
NM_004329.3(BMPR1A):c.176T>A (p.Leu59Ter)
|
rs1564714834
|
|
NM_004329.3(BMPR1A):c.176dup (p.Leu59fs)
|
|
|
NM_004329.3(BMPR1A):c.181_182dup (p.Tyr62fs)
|
|
|
NM_004329.3(BMPR1A):c.216dup (p.Asn73Ter)
|
rs786201501
|
|
NM_004329.3(BMPR1A):c.247_251del (p.Phe83fs)
|
rs786204187
|
|
NM_004329.3(BMPR1A):c.25A>T (p.Arg9Ter)
|
|
|
NM_004329.3(BMPR1A):c.262G>T (p.Glu88Ter)
|
rs730881431
|
|
NM_004329.3(BMPR1A):c.262del (p.Glu88fs)
|
|
|
NM_004329.3(BMPR1A):c.294dup (p.Gly99fs)
|
|
|
NM_004329.3(BMPR1A):c.349C>T (p.Gln117Ter)
|
|
|
NM_004329.3(BMPR1A):c.360del (p.Thr121fs)
|
rs1064794031
|
|
NM_004329.3(BMPR1A):c.394C>T (p.Gln132Ter)
|
rs2133454296
|
|
NM_004329.3(BMPR1A):c.39del (p.Tyr14fs)
|
rs1564710641
|
|
NM_004329.3(BMPR1A):c.405dup (p.Pro136fs)
|
rs876660442
|
|
NM_004329.3(BMPR1A):c.441del (p.Phe147fs)
|
|
|
NM_004329.3(BMPR1A):c.454C>T (p.Arg152Ter)
|
rs1131691178
|
|
NM_004329.3(BMPR1A):c.485del (p.Val162fs)
|
|
|
NM_004329.3(BMPR1A):c.528C>A (p.Tyr176Ter)
|
|
|
NM_004329.3(BMPR1A):c.551C>G (p.Ser184Ter)
|
rs1131691185
|
|
NM_004329.3(BMPR1A):c.578dup (p.Leu193fs)
|
rs1554890219
|
|
NM_004329.3(BMPR1A):c.587_612del (p.Asp196fs)
|
|
|
NM_004329.3(BMPR1A):c.634del (p.Gln212fs)
|
|
|
NM_004329.3(BMPR1A):c.64C>T (p.Gln22Ter)
|
rs1554886821
|
|
NM_004329.3(BMPR1A):c.671del (p.Leu224fs)
|
|
|
NM_004329.3(BMPR1A):c.674dup (p.Leu225fs)
|
|
|
NM_004329.3(BMPR1A):c.682C>T (p.Arg228Ter)
|
rs587782682
|
|
NM_004329.3(BMPR1A):c.767_777del (p.Glu256fs)
|
|
|
NM_004329.3(BMPR1A):c.772del (p.Val258fs)
|
|
|
NM_004329.3(BMPR1A):c.817C>T (p.Arg273Ter)
|
rs587782400
|
|
NM_004329.3(BMPR1A):c.834C>G (p.Tyr278Ter)
|
rs1230919713
|
|
NM_004329.3(BMPR1A):c.924del (p.Thr309fs)
|
rs2133589910
|
|
NM_004329.3(BMPR1A):c.934del (p.His312fs)
|
rs1060503408
|
|
NM_004329.3(BMPR1A):c.943G>T (p.Gly315Ter)
|
|
|
NM_004329.3(BMPR1A):c.949_952del (p.Leu317fs)
|
rs1060503409
|
|
NM_004329.3(BMPR1A):c.951_952dup (p.Tyr318fs)
|
|
|
NM_004329.3(BMPR1A):c.972dup (p.Thr325fs)
|
|
|
NM_004329.3(BMPR1A):c.987_992delinsTGTA (p.Arg329fs)
|
rs1554891056
|
|
NM_004360.5(CDH1):c.1009_1010del (p.Ser337Phefs)
|
rs786201045
|
|
NM_004360.5(CDH1):c.1020_1051del (p.Tyr341fs)
|
|
|
NM_004360.5(CDH1):c.1040_1041dup (p.Ala348fs)
|
|
|
NM_004360.5(CDH1):c.1051C>T (p.Gln351Ter)
|
rs1555515726
|
|
NM_004360.5(CDH1):c.1062dup (p.Leu355fs)
|
|
|
NM_004360.5(CDH1):c.1064del (p.Gly354_Leu355insTer)
|
rs1555515731
|
|
NM_004360.5(CDH1):c.1064dup (p.Leu355fs)
|
rs1555515731
|
|
NM_004360.5(CDH1):c.1078del (p.Thr360fs)
|
|
|
NM_004360.5(CDH1):c.1091_1092del (p.Thr364fs)
|
|
|
NM_004360.5(CDH1):c.1097_1112del (p.Thr366fs)
|
|
|
NM_004360.5(CDH1):c.1098_1099insAA (p.Asp367fs)
|
|
|
NM_004360.5(CDH1):c.1098_1101del (p.Asp367fs)
|
|
|
NM_004360.5(CDH1):c.1123_1129del (p.Phe375fs)
|
|
|
NM_004360.5(CDH1):c.1131del (p.Thr378fs)
|
rs1131690812
|
|
NM_004360.5(CDH1):c.1143_1145delinsA (p.Gly382fs)
|
|
|
NM_004360.5(CDH1):c.1145del (p.Gly382fs)
|
rs1555515863
|
|
NM_004360.5(CDH1):c.1155dup (p.Glu386Ter)
|
|
|
NM_004360.5(CDH1):c.1162G>T (p.Glu388Ter)
|
|
|
NM_004360.5(CDH1):c.11G>A (p.Trp4Ter)
|
rs1962423346
|
|
NM_004360.5(CDH1):c.1212del (p.Asn405fs)
|
rs1597895871
|
|
NM_004360.5(CDH1):c.1212dup (p.Asn405fs)
|
rs1597895871
|
|
NM_004360.5(CDH1):c.1222dup (p.Ala408fs)
|
|
|
NM_004360.5(CDH1):c.1226G>A (p.Trp409Ter)
|
|
|
NM_004360.5(CDH1):c.1228G>T (p.Glu410Ter)
|
|
|
NM_004360.5(CDH1):c.1234_1235dup (p.Ile415fs)
|
rs1567507825
|
|
NM_004360.5(CDH1):c.124_126delinsT (p.Pro42fs)
|
rs876658865
|
|
NM_004360.5(CDH1):c.1273del (p.Val425fs)
|
|
|
NM_004360.5(CDH1):c.1295_1296delinsTTTT (p.Asn432fs)
|
|
|
NM_004360.5(CDH1):c.1301del (p.Gly434fs)
|
|
|
NM_004360.5(CDH1):c.1312del (p.Thr438fs)
|
rs1555515920
|
|
NM_004360.5(CDH1):c.1315_1316delinsCAA (p.Ala439fs)
|
|
|
NM_004360.5(CDH1):c.1338_1345del (p.Lys447fs)
|
|
|
NM_004360.5(CDH1):c.1340_1346del (p.Lys447fs)
|
|
|
NM_004360.5(CDH1):c.1342C>T (p.Gln448Ter)
|
|
|
NM_004360.5(CDH1):c.1343dup (p.Gln449fs)
|
|
|
NM_004360.5(CDH1):c.1350C>G (p.Tyr450Ter)
|
|
|
NM_004360.5(CDH1):c.1354_1357del (p.Leu452fs)
|
rs886039612
|
|
NM_004360.5(CDH1):c.1369del (p.Thr457fs)
|
rs1960959718
|
|
NM_004360.5(CDH1):c.136del (p.Leu46fs)
|
|
|
NM_004360.5(CDH1):c.137del (p.Leu46fs)
|
|
|
NM_004360.5(CDH1):c.1380del (p.Pro461fs)
|
rs1567508847
|
|
NM_004360.5(CDH1):c.1386del (p.Phe462fs)
|
|
|
NM_004360.5(CDH1):c.1397_1398del (p.Leu466fs)
|
rs1597897893
|
|
NM_004360.5(CDH1):c.1438_1453del (p.Val480fs)
|
|
|
NM_004360.5(CDH1):c.1450_1463del (p.Pro484fs)
|
|
|
NM_004360.5(CDH1):c.1467del (p.Glu490fs)
|
|
|
NM_004360.5(CDH1):c.1476_1477del (p.Arg492fs)
|
rs876659208
|
|
NM_004360.5(CDH1):c.1480G>T (p.Glu494Ter)
|
rs778871891
|
|
NM_004360.5(CDH1):c.1488_1494del (p.Glu497fs)
|
rs876658261
|
|
NM_004360.5(CDH1):c.1489G>T (p.Glu497Ter)
|
|
|
NM_004360.5(CDH1):c.1492del (p.Asp498fs)
|
|
|
NM_004360.5(CDH1):c.1531C>T (p.Gln511Ter)
|
rs1131690810
|
|
NM_004360.5(CDH1):c.1541_1565delinsTGTAGT (p.Asp514_Thr522delinsValTer)
|
|
|
NM_004360.5(CDH1):c.1543dup (p.Thr515fs)
|
|
|
NM_004360.5(CDH1):c.1544_1545del (p.Thr515fs)
|
|
|
NM_004360.5(CDH1):c.1555C>T (p.Gln519Ter)
|
|
|
NM_004360.5(CDH1):c.1569T>A (p.Tyr523Ter)
|
rs876659716
|
|
NM_004360.5(CDH1):c.1569T>G (p.Tyr523Ter)
|
rs876659716
|
|
NM_004360.5(CDH1):c.1577G>A (p.Trp526Ter)
|
rs1596960298
|
|
NM_004360.5(CDH1):c.1578G>A (p.Trp526Ter)
|
rs886039590
|
|
NM_004360.5(CDH1):c.1582_1583del (p.Asp528fs)
|
|
|
NM_004360.5(CDH1):c.1587dup (p.Ala530fs)
|
rs1555516532
|
|
NM_004360.5(CDH1):c.1590dup (p.Asn531fs)
|
rs1555516535
|
|
NM_004360.5(CDH1):c.1595G>A (p.Trp532Ter)
|
rs1596960368
|
|
NM_004360.5(CDH1):c.1600dup (p.Glu534fs)
|
|
|
NM_004360.5(CDH1):c.1605del (p.Asn536fs)
|
rs1596960393
|
|
NM_004360.5(CDH1):c.1629del (p.Thr544fs)
|
|
|
NM_004360.5(CDH1):c.1660G>T (p.Glu554Ter)
|
|
|
NM_004360.5(CDH1):c.1679dup (p.Tyr561fs)
|
rs1555516567
|
|
NM_004360.5(CDH1):c.1682dup (p.Tyr561Ter)
|
|
|
NM_004360.5(CDH1):c.1689_1694delinsACGTA (p.Leu564fs)
|
|
|
NM_004360.5(CDH1):c.1710del (p.Asn570fs)
|
rs1961081411
|
|
NM_004360.5(CDH1):c.172G>T (p.Glu58Ter)
|
|
|
NM_004360.5(CDH1):c.1746dup (p.Leu583fs)
|
rs1131690817
|
|
NM_004360.5(CDH1):c.1779del (p.Ile594fs)
|
rs876661118
|
|
NM_004360.5(CDH1):c.1779dup (p.Ile594fs)
|
rs876661118
|
|
NM_004360.5(CDH1):c.1792C>T (p.Arg598Ter)
|
rs121964877
|
|
NM_004360.5(CDH1):c.1795del (p.Thr599fs)
|
|
|
NM_004360.5(CDH1):c.1828C>T (p.Gln610Ter)
|
|
|
NM_004360.5(CDH1):c.1840del (p.Ile614fs)
|
|
|
NM_004360.5(CDH1):c.1878_1885del (p.Phe626fs)
|
rs2152138505
|
|
NM_004360.5(CDH1):c.187C>T (p.Arg63Ter)
|
rs587783047
|
|
NM_004360.5(CDH1):c.1889del (p.Leu630fs)
|
|
|
NM_004360.5(CDH1):c.1893dup (p.His632fs)
|
rs1596963827
|
|
NM_004360.5(CDH1):c.1895_1896del (p.His632fs)
|
rs1060501224
|
|
NM_004360.5(CDH1):c.1913G>A (p.Trp638Ter)
|
rs1567512585
|
|
NM_004360.5(CDH1):c.1914G>A (p.Trp638Ter)
|
rs1961170989
|
|
NM_004360.5(CDH1):c.1921C>T (p.Gln641Ter)
|
rs587782750
|
|
NM_004360.5(CDH1):c.1928del (p.Asn643fs)
|
|
|
NM_004360.5(CDH1):c.1935_1936+9del
|
|
|
NM_004360.5(CDH1):c.1939C>T (p.Gln647Ter)
|
rs778195664
|
|
NM_004360.5(CDH1):c.1942G>T (p.Glu648Ter)
|
rs971882211
|
|
NM_004360.5(CDH1):c.1948_1949del (p.Ile650fs)
|
rs1555517074
|
|
NM_004360.5(CDH1):c.1955dup (p.Leu652fs)
|
|
|
NM_004360.5(CDH1):c.1979dup (p.Gly661_Asp662insTer)
|
rs730881653
|
|
NM_004360.5(CDH1):c.1982del (p.Gly661fs)
|
rs1596965628
|
|
NM_004360.5(CDH1):c.1993del (p.Ile665fs)
|
rs1567513227
|
|
NM_004360.5(CDH1):c.1999del (p.Leu667fs)
|
rs786202033
|
|
NM_004360.5(CDH1):c.2029dup (p.Gln677fs)
|
rs1555517100
|
|
NM_004360.5(CDH1):c.202del (p.Tyr68fs)
|
rs786202151
|
|
NM_004360.5(CDH1):c.2049_2056del (p.Val683_Ser684insTer)
|
|
|
NM_004360.5(CDH1):c.2064_2065del (p.Cys688_Glu689delinsTer)
|
rs587781276
|
|
NM_004360.5(CDH1):c.2095C>T (p.Gln699Ter)
|
rs121964874
|
|
NM_004360.5(CDH1):c.2100del (p.Val701fs)
|
rs1555517136
|
|
NM_004360.5(CDH1):c.2114del (p.Leu705fs)
|
|
|
NM_004360.5(CDH1):c.2144del (p.Gly715fs)
|
rs1555517153
|
|
NM_004360.5(CDH1):c.2200A>T (p.Arg734Ter)
|
|
|
NM_004360.5(CDH1):c.220C>T (p.Arg74Ter)
|
rs876658932
|
|
NM_004360.5(CDH1):c.2220del (p.Leu741fs)
|
|
|
NM_004360.5(CDH1):c.2222T>G (p.Leu741Ter)
|
|
|
NM_004360.5(CDH1):c.2275G>T (p.Gly759Ter)
|
|
|
NM_004360.5(CDH1):c.2276del (p.Gly759fs)
|
rs1555517680
|
|
NM_004360.5(CDH1):c.2287G>T (p.Glu763Ter)
|
rs587780787
|
|
NM_004360.5(CDH1):c.228dup (p.Val77fs)
|
|
|
NM_004360.5(CDH1):c.2293C>T (p.Gln765Ter)
|
rs876658575
|
|
NM_004360.5(CDH1):c.2293dup (p.Gln765fs)
|
|
|
NM_004360.5(CDH1):c.2296-1G>A
|
rs1057517542
|
|
NM_004360.5(CDH1):c.2297_2307delinsTTGA (p.Asp766fs)
|
|
|
NM_004360.5(CDH1):c.2301del (p.Phe767fs)
|
|
|
NM_004360.5(CDH1):c.2311C>T (p.Gln771Ter)
|
rs1131690813
|
|
NM_004360.5(CDH1):c.2351_2352del (p.Arg784fs)
|
|
|
NM_004360.5(CDH1):c.2355_2356insCAACCCTCATGGT (p.Asp786delinsGlnProSerTrpTer)
|
|
|
NM_004360.5(CDH1):c.2386dup (p.Arg796fs)
|
rs1375617541
|
|
NM_004360.5(CDH1):c.2398del (p.Arg800fs)
|
rs587783048
|
|
NM_004360.5(CDH1):c.2416G>T (p.Glu806Ter)
|
|
|
NM_004360.5(CDH1):c.2422G>T (p.Gly808Ter)
|
|
|
NM_004360.5(CDH1):c.2430del (p.Phe810fs)
|
rs786203752
|
|
NM_004360.5(CDH1):c.244_248del (p.Val82fs)
|
|
|
NM_004360.5(CDH1):c.2474dup (p.Pro826fs)
|
rs1555518221
|
|
NM_004360.5(CDH1):c.247delinsGTGTGG (p.Ile83fs)
|
|
|
NM_004360.5(CDH1):c.2480dup (p.Tyr827Ter)
|
rs1596976243
|
|
NM_004360.5(CDH1):c.259dup (p.Arg87fs)
|
|
|
NM_004360.5(CDH1):c.25_26del (p.Ser9fs)
|
|
|
NM_004360.5(CDH1):c.261del (p.Arg87fs)
|
rs1555514429
|
|
NM_004360.5(CDH1):c.267dup (p.Arg90fs)
|
|
|
NM_004360.5(CDH1):c.26C>A (p.Ser9Ter)
|
rs1555509646
|
|
NM_004360.5(CDH1):c.283C>T (p.Gln95Ter)
|
rs781409616
|
|
NM_004360.5(CDH1):c.294delinsTT (p.Leu99fs)
|
|
|
NM_004360.5(CDH1):c.301_314del (p.Tyr101fs)
|
|
|
NM_004360.5(CDH1):c.303C>G (p.Tyr101Ter)
|
|
|
NM_004360.5(CDH1):c.309G>A (p.Trp103Ter)
|
rs2152126900
|
|
NM_004360.5(CDH1):c.315del (p.Thr106fs)
|
rs1064795703
|
|
NM_004360.5(CDH1):c.321C>G (p.Tyr107Ter)
|
rs765929630
|
|
NM_004360.5(CDH1):c.326del (p.Lys109fs)
|
|
|
NM_004360.5(CDH1):c.331del (p.Ser111fs)
|
|
|
NM_004360.5(CDH1):c.333del (p.Thr112fs)
|
|
|
NM_004360.5(CDH1):c.360dup (p.His121fs)
|
rs878854690
|
|
NM_004360.5(CDH1):c.376_382del (p.Pro126fs)
|
|
|
NM_004360.5(CDH1):c.376_382dup (p.His128fs)
|
rs1567501500
|
|
NM_004360.5(CDH1):c.377del (p.Pro126fs)
|
rs1060501215
|
|
NM_004360.5(CDH1):c.377dup (p.Pro127fs)
|
rs1060501215
|
|
NM_004360.5(CDH1):c.382del (p.His128fs)
|
rs1555514492
|
|
NM_004360.5(CDH1):c.384dup (p.Gln129fs)
|
|
|
NM_004360.5(CDH1):c.385C>T (p.Gln129Ter)
|
|
|
NM_004360.5(CDH1):c.414_415dup (p.Leu139fs)
|
|
|
NM_004360.5(CDH1):c.419_420del (p.Leu140fs)
|
|
|
NM_004360.5(CDH1):c.42dup (p.Leu15fs)
|
|
|
NM_004360.5(CDH1):c.438_439del (p.Pro147fs)
|
rs1555515197
|
|
NM_004360.5(CDH1):c.454_460del (p.Gln152fs)
|
rs1131690815
|
|
NM_004360.5(CDH1):c.454_460dup (p.Arg154fs)
|
rs1131690815
|
|
NM_004360.5(CDH1):c.455_465del (p.Gln152fs)
|
rs1555515210
|
|
NM_004360.5(CDH1):c.456_457delinsTT (p.Gln152_Lys153delinsHisTer)
|
|
|
NM_004360.5(CDH1):c.464_467dup (p.Trp156Ter)
|
|
|
NM_004360.5(CDH1):c.46C>T (p.Gln16Ter)
|
|
|
NM_004360.5(CDH1):c.47dup (p.Val17fs)
|
|
|
NM_004360.5(CDH1):c.480_486delinsAGAATA (p.Ile161fs)
|
rs1555515217
|
|
NM_004360.5(CDH1):c.484_485delinsT (p.Cys163fs)
|
|
|
NM_004360.5(CDH1):c.504del (p.Gly169fs)
|
rs864622655
|
|
NM_004360.5(CDH1):c.506del (p.Gly169fs)
|
|
|
NM_004360.5(CDH1):c.521dup (p.Asn174fs)
|
rs587781290
|
|
NM_004360.5(CDH1):c.553G>T (p.Glu185Ter)
|
|
|
NM_004360.5(CDH1):c.570C>G (p.Tyr190Ter)
|
|
|
NM_004360.5(CDH1):c.59G>A (p.Trp20Ter)
|
rs121964875
|
|
NM_004360.5(CDH1):c.602_603del (p.Pro201fs)
|
|
|
NM_004360.5(CDH1):c.602dup (p.Val202fs)
|
|
|
NM_004360.5(CDH1):c.603del (p.Val202fs)
|
rs1131690809
|
|
NM_004360.5(CDH1):c.60G>A (p.Trp20Ter)
|
rs786203576
|
|
NM_004360.5(CDH1):c.628G>T (p.Glu210Ter)
|
|
|
NM_004360.5(CDH1):c.632_633del (p.Thr211fs)
|
|
|
NM_004360.5(CDH1):c.634G>T (p.Gly212Ter)
|
|
|
NM_004360.5(CDH1):c.638G>A (p.Trp213Ter)
|
|
|
NM_004360.5(CDH1):c.639G>A (p.Trp213Ter)
|
|
|
NM_004360.5(CDH1):c.640del (p.Trp213_Leu214insTer)
|
|
|
NM_004360.5(CDH1):c.64_80del (p.Cys22fs)
|
|
|
NM_004360.5(CDH1):c.656del (p.Pro219fs)
|
rs1555515284
|
|
NM_004360.5(CDH1):c.67C>T (p.Gln23Ter)
|
rs1962456814
|
|
NM_004360.5(CDH1):c.696_697del (p.His233fs)
|
rs1060501214
|
|
NM_004360.5(CDH1):c.696_750del (p.His233fs)
|
|
|
NM_004360.5(CDH1):c.698dup (p.His233fs)
|
|
|
NM_004360.5(CDH1):c.720del (p.Asn240fs)
|
rs1131690819
|
|
NM_004360.5(CDH1):c.737_760delinsGGGC (p.Met246fs)
|
|
|
NM_004360.5(CDH1):c.763C>T (p.Gln255Ter)
|
|
|
NM_004360.5(CDH1):c.76G>T (p.Glu26Ter)
|
rs786201058
|
|
NM_004360.5(CDH1):c.807dup (p.Ser270fs)
|
|
|
NM_004360.5(CDH1):c.817G>T (p.Glu273Ter)
|
|
|
NM_004360.5(CDH1):c.81del (p.Cys28fs)
|
|
|
NM_004360.5(CDH1):c.830del (p.Pro277fs)
|
|
|
NM_004360.5(CDH1):c.846_847delinsTT (p.Met282_Glu283delinsIleTer)
|
|
|
NM_004360.5(CDH1):c.84C>A (p.Cys28Ter)
|
|
|
NM_004360.5(CDH1):c.878dup (p.Asn294fs)
|
|
|
NM_004360.5(CDH1):c.885del (p.Tyr296fs)
|
|
|
NM_004360.5(CDH1):c.888C>G (p.Tyr296Ter)
|
|
|
NM_004360.5(CDH1):c.919C>T (p.Gln307Ter)
|
|
|
NM_004360.5(CDH1):c.943_944del (p.Asn315fs)
|
rs2152132067
|
|
NM_004360.5(CDH1):c.943_946del (p.Asn315fs)
|
|
|
NM_004360.5(CDH1):c.944del (p.Asn315fs)
|
|
|
NM_004360.5(CDH1):c.968del (p.Thr323fs)
|
|
|
NM_004360.5(CDH1):c.970G>T (p.Gly324Ter)
|
|
|
NM_004655.4(AXIN2):c.1000C>T (p.Gln334Ter)
|
|
|
NM_004655.4(AXIN2):c.1212_1215del (p.Glu405fs)
|
|
|
NM_004655.4(AXIN2):c.1214_1215del (p.Glu405fs)
|
rs771001164
|
|
NM_004655.4(AXIN2):c.1249del (p.Ala417fs)
|
rs2043961707
|
|
NM_004655.4(AXIN2):c.1274dup (p.Leu426fs)
|
|
|
NM_004655.4(AXIN2):c.130C>T (p.Gln44Ter)
|
|
|
NM_004655.4(AXIN2):c.1321_1325del (p.Asp441fs)
|
|
|
NM_004655.4(AXIN2):c.1460_1472dup (p.Pro494fs)
|
rs1567755946
|
|
NM_004655.4(AXIN2):c.1474_1492del (p.Ala492fs)
|
|
|
NM_004655.4(AXIN2):c.1609C>T (p.Gln537Ter)
|
|
|
NM_004655.4(AXIN2):c.1642G>T (p.Glu548Ter)
|
rs367624903
|
|
NM_004655.4(AXIN2):c.183del (p.Leu62fs)
|
|
|
NM_004655.4(AXIN2):c.1966C>T (p.Arg656Ter)
|
rs121908568
|
|
NM_004655.4(AXIN2):c.1988G>A (p.Trp663Ter)
|
|
|
NM_004655.4(AXIN2):c.1989G>A (p.Trp663Ter)
|
rs730882193
|
|
NM_004655.4(AXIN2):c.1994del (p.Gly665fs)
|
rs267606674
|
|
NM_004655.4(AXIN2):c.1994dup (p.Asn666fs)
|
rs267606674
|
|
NM_004655.4(AXIN2):c.2011del (p.Arg671fs)
|
|
|
NM_004655.4(AXIN2):c.2012del (p.Arg671fs)
|
|
|
NM_004655.4(AXIN2):c.2023del (p.Arg675fs)
|
|
|
NM_004655.4(AXIN2):c.2062_2063del (p.Leu688fs)
|
rs2144440630
|
|
NM_004655.4(AXIN2):c.233G>A (p.Trp78Ter)
|
rs2144589420
|
|
NM_004655.4(AXIN2):c.234G>A (p.Trp78Ter)
|
rs1567769335
|
|
NM_004655.4(AXIN2):c.284del (p.Phe95fs)
|
|
|
NM_004655.4(AXIN2):c.323dup (p.Leu108fs)
|
|
|
NM_004655.4(AXIN2):c.385C>T (p.Arg129Ter)
|
|
|
NM_004655.4(AXIN2):c.436_437del (p.Ser146fs)
|
|
|
NM_004655.4(AXIN2):c.561_562insA (p.Gln188fs)
|
|
|
NM_004655.4(AXIN2):c.562C>T (p.Gln188Ter)
|
|
|
NM_004655.4(AXIN2):c.606dup (p.Gly203fs)
|
|
|
NM_004655.4(AXIN2):c.730dup (p.Ser244fs)
|
rs1056103847
|
|
NM_004655.4(AXIN2):c.731del (p.Ser244fs)
|
rs2144582634
|
|
NM_004655.4(AXIN2):c.74del (p.Pro25fs)
|
|
|
NM_004655.4(AXIN2):c.7_16del (p.Ser3fs)
|
|
|
NM_004655.4(AXIN2):c.842del (p.Asn281fs)
|
|
|
NM_004655.4(AXIN2):c.94del (p.Glu32fs)
|
|
|
NM_004656.4(BAP1):c.106C>T (p.Gln36Ter)
|
rs2153228522
|
|
NM_004656.4(BAP1):c.10_11delinsC (p.Gly4fs)
|
|
|
NM_004656.4(BAP1):c.112A>T (p.Lys38Ter)
|
|
|
NM_004656.4(BAP1):c.1169dup (p.Pro391fs)
|
rs1578222261
|
|
NM_004656.4(BAP1):c.1203dup (p.Glu402Ter)
|
rs1553645126
|
|
NM_004656.4(BAP1):c.1224del (p.Asp408fs)
|
|
|
NM_004656.4(BAP1):c.1228C>T (p.Gln410Ter)
|
|
|
NM_004656.4(BAP1):c.1253dup (p.Tyr418Ter)
|
|
|
NM_004656.4(BAP1):c.1359dup (p.Glu454fs)
|
|
|
NM_004656.4(BAP1):c.1382delinsAA (p.Ile461fs)
|
|
|
NM_004656.4(BAP1):c.1433_1449dup (p.Pro484fs)
|
rs1705050256
|
|
NM_004656.4(BAP1):c.1439del (p.Thr480fs)
|
|
|
NM_004656.4(BAP1):c.1474_1475del (p.Ser492fs)
|
rs1559586782
|
|
NM_004656.4(BAP1):c.1690del (p.Leu564fs)
|
|
|
NM_004656.4(BAP1):c.1695dup (p.Glu566Ter)
|
rs1553644815
|
|
NM_004656.4(BAP1):c.1717del (p.Leu573fs)
|
rs869025212
|
|
NM_004656.4(BAP1):c.1813del (p.Glu605fs)
|
|
|
NM_004656.4(BAP1):c.1833_1834dup (p.Lys612fs)
|
|
|
NM_004656.4(BAP1):c.1839_1848dup (p.Arg617fs)
|
|
|
NM_004656.4(BAP1):c.1869del (p.Ser623fs)
|
|
|
NM_004656.4(BAP1):c.1938T>A (p.Tyr646Ter)
|
rs1578219056
|
|
NM_004656.4(BAP1):c.1993C>T (p.Gln665Ter)
|
rs1578218761
|
|
NM_004656.4(BAP1):c.2050C>T (p.Gln684Ter)
|
rs387906848
|
|
NM_004656.4(BAP1):c.436dup (p.Arg146fs)
|
rs2153227933
|
|
NM_004656.4(BAP1):c.517dup (p.Tyr173fs)
|
rs1553645806
|
|
NM_004656.4(BAP1):c.550del (p.Asp184fs)
|
|
|
NM_004656.4(BAP1):c.592G>T (p.Glu198Ter)
|
rs1553645720
|
|
NM_004656.4(BAP1):c.592dup (p.Glu198fs)
|
rs1205668341
|
|
NM_004656.4(BAP1):c.605G>A (p.Trp202Ter)
|
rs2153227652
|
|
NM_004656.4(BAP1):c.634G>T (p.Glu212Ter)
|
|
|
NM_004656.4(BAP1):c.898_899del (p.Arg300fs)
|
rs1578224341
|
|
NM_004656.4(BAP1):c.973del (p.Ser325fs)
|
|
|
NM_005359.5(SMAD4):c.731_732insGCCC(p.Gln245Profs)
|
rs377767335
|
|
NM_005359.6(SMAD4):c.1552dup (p.Ile518fs)
|
|
|
NM_005359.6(SMAD4):c.513_514del (p.Leu172fs)
|
|
|
NM_005359.6(SMAD4):c.699dup (p.Ser234Ter)
|
|
|
NM_005359.6(SMAD4):c.875del (p.Pro292fs)
|
|
|
NM_005562.3(LAMC2):c.283C>T (p.Arg95Ter)
|
rs80356683
|
|
NM_006261.5(PROP1):c.301_302del (p.Leu102fs)
|
rs193922688
|
|
NM_006493.4(CLN5):c.1028_1029del (p.Thr342_Tyr343insTer)
|
rs386833969
|
|
NM_007194.4(CHEK2):c.1006C>T (p.Gln336Ter)
|
rs2145841361
|
|
NM_007194.4(CHEK2):c.1007del (p.Gln336fs)
|
rs1569120831
|
|
NM_007194.4(CHEK2):c.100C>T (p.Gln34Ter)
|
rs1231012263
|
|
NM_007194.4(CHEK2):c.100_101del (p.Gln34fs)
|
rs2054330803
|
|
NM_007194.4(CHEK2):c.1018G>T (p.Glu340Ter)
|
|
|
NM_007194.4(CHEK2):c.1036del (p.Arg346fs)
|
|
|
NM_007194.4(CHEK2):c.1043T>G (p.Leu348Ter)
|
rs878854908
|
|
NM_007194.4(CHEK2):c.1049dup (p.Glu351fs)
|
|
|
NM_007194.4(CHEK2):c.1050del (p.Glu351fs)
|
rs2052610542
|
|
NM_007194.4(CHEK2):c.1052del (p.Glu351fs)
|
|
|
NM_007194.4(CHEK2):c.1063del (p.Leu355fs)
|
rs1555914279
|
|
NM_007194.4(CHEK2):c.106C>T (p.Gln36Ter)
|
rs2146151890
|
|
NM_007194.4(CHEK2):c.1072C>T (p.Gln358Ter)
|
rs878854909
|
|
NM_007194.4(CHEK2):c.1075G>T (p.Glu359Ter)
|
|
|
NM_007194.4(CHEK2):c.1089_1092del (p.Ile364fs)
|
rs1064793566
|
|
NM_007194.4(CHEK2):c.1096del (p.Ile366fs)
|
rs1555913941
|
|
NM_007194.4(CHEK2):c.1111_1127del (p.His371fs)
|
|
|
NM_007194.4(CHEK2):c.1111_1127dup (p.Glu377fs)
|
rs2052563898
|
|
NM_007194.4(CHEK2):c.1116dup (p.Lys373fs)
|
rs1555913894
|
|
NM_007194.4(CHEK2):c.1131_1132del (p.Glu377fs)
|
|
|
NM_007194.4(CHEK2):c.1133_1142del (p.Thr378fs)
|
rs1601723175
|
|
NM_007194.4(CHEK2):c.1139_1140del (p.Leu380fs)
|
rs1060502684
|
|
NM_007194.4(CHEK2):c.1142_1143insA (p.Met381fs)
|
rs1064794965
|
|
NM_007194.4(CHEK2):c.1164del (p.Thr389fs)
|
rs758677815
|
|
NM_007194.4(CHEK2):c.1164dup (p.Thr389fs)
|
rs758677815
|
|
NM_007194.4(CHEK2):c.1167dup (p.Tyr390fs)
|
|
|
NM_007194.4(CHEK2):c.1170C>A (p.Tyr390Ter)
|
rs886039631
|
|
NM_007194.4(CHEK2):c.117_132del (p.Ser40fs)
|
|
|
NM_007194.4(CHEK2):c.1180G>T (p.Glu394Ter)
|
rs587780169
|
|
NM_007194.4(CHEK2):c.1188_1194dup (p.Val399fs)
|
rs1569113653
|
|
NM_007194.4(CHEK2):c.1188del (p.Val397fs)
|
rs753159426
|
|
NM_007194.4(CHEK2):c.1197del (p.Thr401fs)
|
rs876658302
|
|
NM_007194.4(CHEK2):c.1197dup (p.Gly400fs)
|
rs876658302
|
|
NM_007194.4(CHEK2):c.1209_1233del (p.Tyr404fs)
|
rs1555913672
|
|
NM_007194.4(CHEK2):c.1210_1219del (p.Tyr404fs)
|
rs2052553224
|
|
NM_007194.4(CHEK2):c.1210dup (p.Tyr404fs)
|
|
|
NM_007194.4(CHEK2):c.1212T>A (p.Tyr404Ter)
|
rs587781836
|
|
NM_007194.4(CHEK2):c.1222_1237del (p.Ala407_Val408insTer)
|
rs786203031
|
|
NM_007194.4(CHEK2):c.1230C>A (p.Cys410Ter)
|
rs773380144
|
|
NM_007194.4(CHEK2):c.1233G>A (p.Trp411Ter)
|
rs1064796572
|
|
NM_007194.4(CHEK2):c.1238T>G (p.Leu413Ter)
|
rs1248967885
|
|
NM_007194.4(CHEK2):c.1238del (p.Ser412_Leu413insTer)
|
rs765664259
|
|
NM_007194.4(CHEK2):c.1240G>T (p.Gly414Ter)
|
rs878854913
|
|
NM_007194.4(CHEK2):c.1246dup (p.Ile416fs)
|
rs2145801350
|
|
NM_007194.4(CHEK2):c.1248del (p.Leu417fs)
|
rs2145801216
|
|
NM_007194.4(CHEK2):c.1253_1254insA (p.Phe418fs)
|
|
|
NM_007194.4(CHEK2):c.1254del (p.Phe418fs)
|
rs587780173
|
|
NM_007194.4(CHEK2):c.1260C>A (p.Cys420Ter)
|
|
|
NM_007194.4(CHEK2):c.1263del (p.Ser422fs)
|
rs587780174
|
|
NM_007194.4(CHEK2):c.1265del (p.Ser422fs)
|
|
|
NM_007194.4(CHEK2):c.1271del (p.Tyr424fs)
|
|
|
NM_007194.4(CHEK2):c.1271dup (p.Tyr424Ter)
|
|
|
NM_007194.4(CHEK2):c.1272T>G (p.Tyr424Ter)
|
|
|
NM_007194.4(CHEK2):c.1274dup (p.Pro426fs)
|
|
|
NM_007194.4(CHEK2):c.1275del (p.Pro426fs)
|
|
|
NM_007194.4(CHEK2):c.1279_1280insC (p.Phe427fs)
|
rs1569112324
|
|
NM_007194.4(CHEK2):c.1281_1284del (p.Phe427fs)
|
|
|
NM_007194.4(CHEK2):c.1290_1292delinsGTGACTCAAGTGTCACTTCAGT (p.His430_Arg431delinsGlnTer)
|
|
|
NM_007194.4(CHEK2):c.1290dup (p.Arg431Ter)
|
rs771772104
|
|
NM_007194.4(CHEK2):c.1293del (p.Thr432fs)
|
|
|
NM_007194.4(CHEK2):c.1297C>T (p.Gln433Ter)
|
rs1555913494
|
|
NM_007194.4(CHEK2):c.1298_1299del (p.Gln433fs)
|
rs1555913493
|
|
NM_007194.4(CHEK2):c.1304C>A (p.Ser435Ter)
|
|
|
NM_007194.4(CHEK2):c.1306del (p.Ser435_Leu436insTer)
|
rs2145794764
|
|
NM_007194.4(CHEK2):c.1314del (p.Gln439fs)
|
rs2145794535
|
|
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter)
|
rs778989252
|
|
NM_007194.4(CHEK2):c.1318del (p.Ile440fs)
|
|
|
NM_007194.4(CHEK2):c.1321del (p.Thr441fs)
|
|
|
NM_007194.4(CHEK2):c.1323del (p.Ser442fs)
|
rs1555913464
|
|
NM_007194.4(CHEK2):c.1327G>T (p.Gly443Ter)
|
|
|
NM_007194.4(CHEK2):c.1332del (p.Lys444fs)
|
rs2145794013
|
|
NM_007194.4(CHEK2):c.1335C>A (p.Tyr445Ter)
|
rs1601719469
|
|
NM_007194.4(CHEK2):c.1335C>G (p.Tyr445Ter)
|
|
|
NM_007194.4(CHEK2):c.1335del (p.Lys444_Tyr445insTer)
|
|
|
NM_007194.4(CHEK2):c.1337del (p.Asn446fs)
|
rs876659639
|
|
NM_007194.4(CHEK2):c.133del (p.Thr45fs)
|
rs1555932518
|
|
NM_007194.4(CHEK2):c.1344del (p.Pro449fs)
|
rs1601719328
|
|
NM_007194.4(CHEK2):c.1348G>T (p.Glu450Ter)
|
rs1555913429
|
|
NM_007194.4(CHEK2):c.1350del (p.Val451fs)
|
|
|
NM_007194.4(CHEK2):c.1355G>A (p.Trp452Ter)
|
rs1601719186
|
|
NM_007194.4(CHEK2):c.1356G>A (p.Trp452Ter)
|
rs730881702
|
|
NM_007194.4(CHEK2):c.1367C>G (p.Ser456Ter)
|
rs876659827
|
|
NM_007194.4(CHEK2):c.1371_1372del (p.Lys458fs)
|
rs2052513579
|
|
NM_007194.4(CHEK2):c.1374del (p.Ala459fs)
|
|
|
NM_007194.4(CHEK2):c.1393A>T (p.Lys465Ter)
|
|
|
NM_007194.4(CHEK2):c.1400T>A (p.Leu467Ter)
|
rs1555913161
|
|
NM_007194.4(CHEK2):c.1400del (p.Leu467fs)
|
rs2052472184
|
|
NM_007194.4(CHEK2):c.1415del (p.Lys472fs)
|
|
|
NM_007194.4(CHEK2):c.1432G>T (p.Glu478Ter)
|
rs2145784977
|
|
NM_007194.4(CHEK2):c.1434del (p.Glu479fs)
|
rs786202601
|
|
NM_007194.4(CHEK2):c.1435G>T (p.Glu479Ter)
|
rs1555913106
|
|
NM_007194.4(CHEK2):c.1437_1446del (p.Glu479fs)
|
|
|
NM_007194.4(CHEK2):c.1442T>G (p.Leu481Ter)
|
|
|
NM_007194.4(CHEK2):c.1444A>T (p.Arg482Ter)
|
|
|
NM_007194.4(CHEK2):c.1451del (p.Pro484fs)
|
rs1555913078
|
|
NM_007194.4(CHEK2):c.1454G>A (p.Trp485Ter)
|
rs1199577809
|
|
NM_007194.4(CHEK2):c.1455G>A (p.Trp485Ter)
|
rs1601715852
|
|
NM_007194.4(CHEK2):c.1455dup (p.Leu486fs)
|
rs1601715865
|
|
NM_007194.4(CHEK2):c.1465G>T (p.Glu489Ter)
|
rs1420382294
|
|
NM_007194.4(CHEK2):c.1485del (p.Gln496fs)
|
|
|
NM_007194.4(CHEK2):c.1492_1496del (p.Leu498fs)
|
rs1555912044
|
|
NM_007194.4(CHEK2):c.1492del (p.Leu498fs)
|
rs2052245881
|
|
NM_007194.4(CHEK2):c.1495del (p.Leu499fs)
|
|
|
NM_007194.4(CHEK2):c.1498_1501del (p.Ser500fs)
|
|
|
NM_007194.4(CHEK2):c.149del (p.Ser50fs)
|
|
|
NM_007194.4(CHEK2):c.14_20del (p.Ser5fs)
|
rs757016287
|
|
NM_007194.4(CHEK2):c.1500_1501delinsAT (p.Glu501Ter)
|
|
|
NM_007194.4(CHEK2):c.1501del (p.Glu501fs)
|
rs1131691045
|
|
NM_007194.4(CHEK2):c.1502_1503dup (p.Glu502fs)
|
rs587782707
|
|
NM_007194.4(CHEK2):c.1510G>T (p.Glu504Ter)
|
rs587782489
|
|
NM_007194.4(CHEK2):c.151C>T (p.Gln51Ter)
|
rs587781592
|
|
NM_007194.4(CHEK2):c.1522dup (p.Leu508fs)
|
rs1555912001
|
|
NM_007194.4(CHEK2):c.1528C>T (p.Gln510Ter)
|
rs886039512
|
|
NM_007194.4(CHEK2):c.1540C>T (p.Gln514Ter)
|
|
|
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter)
|
rs200432447
|
|
NM_007194.4(CHEK2):c.159_160del (p.His54fs)
|
rs2054324732
|
|
NM_007194.4(CHEK2):c.16del (p.Asp6fs)
|
rs2146156838
|
|
NM_007194.4(CHEK2):c.174del (p.Thr59fs)
|
|
|
NM_007194.4(CHEK2):c.179dup (p.Ser61fs)
|
|
|
NM_007194.4(CHEK2):c.194_195del (p.Thr65fs)
|
rs2054321037
|
|
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter)
|
rs768384031
|
|
NM_007194.4(CHEK2):c.206_207del (p.Gln69fs)
|
|
|
NM_007194.4(CHEK2):c.216T>G (p.Tyr72Ter)
|
rs587781705
|
|
NM_007194.4(CHEK2):c.219_223del (p.Ser73_Ile74insTer)
|
rs766416564
|
|
NM_007194.4(CHEK2):c.222del (p.Pro75fs)
|
rs2146147030
|
|
NM_007194.4(CHEK2):c.22G>T (p.Glu8Ter)
|
|
|
NM_007194.4(CHEK2):c.233_234del (p.Gln78fs)
|
rs2146146624
|
|
NM_007194.4(CHEK2):c.235G>T (p.Glu79Ter)
|
|
|
NM_007194.4(CHEK2):c.241G>T (p.Glu81Ter)
|
|
|
NM_007194.4(CHEK2):c.247C>T (p.Gln83Ter)
|
rs1555932326
|
|
NM_007194.4(CHEK2):c.247del (p.Gln83fs)
|
rs587782766
|
|
NM_007194.4(CHEK2):c.250G>T (p.Glu84Ter)
|
|
|
NM_007194.4(CHEK2):c.254del (p.Pro85fs)
|
|
|
NM_007194.4(CHEK2):c.263del (p.Pro88fs)
|
|
|
NM_007194.4(CHEK2):c.264dup (p.Thr89fs)
|
|
|
NM_007194.4(CHEK2):c.269dup (p.Ala91fs)
|
rs1555932231
|
|
NM_007194.4(CHEK2):c.270dup (p.Ala91fs)
|
|
|
NM_007194.4(CHEK2):c.275_287delinsTCAGG (p.Pro92fs)
|
|
|
NM_007194.4(CHEK2):c.276del (p.Trp93fs)
|
rs876661156
|
|
NM_007194.4(CHEK2):c.276dup (p.Trp93fs)
|
rs876661156
|
|
NM_007194.4(CHEK2):c.277del (p.Trp93fs)
|
rs786203458
|
|
NM_007194.4(CHEK2):c.278G>A (p.Trp93Ter)
|
rs786203889
|
|
NM_007194.4(CHEK2):c.282del (p.Arg95fs)
|
rs1064795959
|
|
NM_007194.4(CHEK2):c.290G>A (p.Trp97Ter)
|
|
|
NM_007194.4(CHEK2):c.292del (p.Ala98fs)
|
rs1555932116
|
|
NM_007194.4(CHEK2):c.298C>T (p.Gln100Ter)
|
rs2054311767
|
|
NM_007194.4(CHEK2):c.299del (p.Gln100fs)
|
|
|
NM_007194.4(CHEK2):c.309_318dup (p.Glu107delinsCysGlnSerTer)
|
|
|
NM_007194.4(CHEK2):c.315del (p.Glu107fs)
|
|
|
NM_007194.4(CHEK2):c.318del (p.Glu107fs)
|
|
|
NM_007194.4(CHEK2):c.319G>T (p.Glu107Ter)
|
|
|
NM_007194.4(CHEK2):c.31dup (p.Gln11fs)
|
rs1555932913
|
|
NM_007194.4(CHEK2):c.335_342delinsCACATTCACACA (p.Asn112fs)
|
|
|
NM_007194.4(CHEK2):c.339C>A (p.Tyr113Ter)
|
|
|
NM_007194.4(CHEK2):c.339C>G (p.Tyr113Ter)
|
rs905674348
|
|
NM_007194.4(CHEK2):c.339del (p.Trp114fs)
|
|
|
NM_007194.4(CHEK2):c.341G>A (p.Trp114Ter)
|
rs1555927374
|
|
NM_007194.4(CHEK2):c.349del (p.Arg117fs)
|
rs2146071079
|
|
NM_007194.4(CHEK2):c.354del (p.Asp118fs)
|
|
|
NM_007194.4(CHEK2):c.363_364del (p.Cys121_Glu122delinsTer)
|
rs1555927312
|
|
NM_007194.4(CHEK2):c.364del (p.Glu122fs)
|
rs786203355
|
|
NM_007194.4(CHEK2):c.366del (p.Glu122fs)
|
rs1555927302
|
|
NM_007194.4(CHEK2):c.391A>T (p.Lys131Ter)
|
rs1275395933
|
|
NM_007194.4(CHEK2):c.397dup (p.Thr133fs)
|
|
|
NM_007194.4(CHEK2):c.402delinsAA (p.Asp134fs)
|
|
|
NM_007194.4(CHEK2):c.405del (p.Lys135fs)
|
rs730881699
|
|
NM_007194.4(CHEK2):c.409_427del (p.Arg137fs)
|
|
|
NM_007194.4(CHEK2):c.415dup (p.Tyr139fs)
|
|
|
NM_007194.4(CHEK2):c.417C>A (p.Tyr139Ter)
|
rs200917541
|
|
NM_007194.4(CHEK2):c.420_421del (p.Ser140fs)
|
|
|
NM_007194.4(CHEK2):c.427_429delinsA (p.His143fs)
|
|
|
NM_007194.4(CHEK2):c.432del (p.Arg145fs)
|
rs1555927148
|
|
NM_007194.4(CHEK2):c.432dup (p.Arg145fs)
|
rs1555927148
|
|
NM_007194.4(CHEK2):c.433del (p.Arg145fs)
|
rs1555927137
|
|
NM_007194.4(CHEK2):c.449del (p.Val150fs)
|
rs1601824270
|
|
NM_007194.4(CHEK2):c.451_472del (p.Gly151fs)
|
rs1555926975
|
|
NM_007194.4(CHEK2):c.452del (p.Gly151fs)
|
rs2053949167
|
|
NM_007194.4(CHEK2):c.456del (p.Asn154fs)
|
|
|
NM_007194.4(CHEK2):c.461dup (p.Asn154fs)
|
|
|
NM_007194.4(CHEK2):c.468C>A (p.Tyr156Ter)
|
rs1555926996
|
|
NM_007194.4(CHEK2):c.46dup (p.Ser16fs)
|
|
|
NM_007194.4(CHEK2):c.472del (p.Ala158fs)
|
|
|
NM_007194.4(CHEK2):c.473_474delinsAAGTACTCT (p.Ala158fs)
|
|
|
NM_007194.4(CHEK2):c.477_478dup (p.Ile160fs)
|
|
|
NM_007194.4(CHEK2):c.478del (p.Tyr159_Ile160insTer)
|
rs1225437533
|
|
NM_007194.4(CHEK2):c.480_483dup (p.Asp162fs)
|
rs864622453
|
|
NM_007194.4(CHEK2):c.507del (p.Phe169fs)
|
rs587780183
|
|
NM_007194.4(CHEK2):c.509_514delinsG (p.Val170fs)
|
|
|
NM_007194.4(CHEK2):c.514dup (p.Thr172fs)
|
rs1601823546
|
|
NM_007194.4(CHEK2):c.516_519del (p.Glu173fs)
|
|
|
NM_007194.4(CHEK2):c.523del (p.Leu174_Val175insTer)
|
|
|
NM_007194.4(CHEK2):c.524dup (p.Gly176fs)
|
rs587780184
|
|
NM_007194.4(CHEK2):c.529A>T (p.Lys177Ter)
|
rs796389290
|
|
NM_007194.4(CHEK2):c.533del (p.Gly178fs)
|
|
|
NM_007194.4(CHEK2):c.537del (p.Lys179fs)
|
rs2053940893
|
|
NM_007194.4(CHEK2):c.548T>A (p.Leu183Ter)
|
|
|
NM_007194.4(CHEK2):c.555_585del (p.Asn185fs)
|
|
|
NM_007194.4(CHEK2):c.555del (p.Asn185fs)
|
|
|
NM_007194.4(CHEK2):c.557del (p.Asn186fs)
|
rs2146057730
|
|
NM_007194.4(CHEK2):c.573del (p.Ser192fs)
|
|
|
NM_007194.4(CHEK2):c.575C>G (p.Ser192Ter)
|
|
|
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter)
|
rs536907995
|
|
NM_007194.4(CHEK2):c.591del (p.Val198fs)
|
rs587782245
|
|
NM_007194.4(CHEK2):c.597del (p.Phe199fs)
|
rs1250779080
|
|
NM_007194.4(CHEK2):c.600del (p.Phe202fs)
|
rs1555924538
|
|
NM_007194.4(CHEK2):c.605_606del (p.Phe201_Phe202insTer)
|
rs886039609
|
|
NM_007194.4(CHEK2):c.606del (p.Phe202fs)
|
rs886039609
|
|
NM_007194.4(CHEK2):c.606dup (p.Asp203Ter)
|
rs886039609
|
|
NM_007194.4(CHEK2):c.616_617del (p.Val206fs)
|
rs1346554630
|
|
NM_007194.4(CHEK2):c.625C>T (p.Gln209Ter)
|
rs1569149953
|
|
NM_007194.4(CHEK2):c.625del (p.Gln209fs)
|
|
|
NM_007194.4(CHEK2):c.629C>G (p.Ser210Ter)
|
rs767253467
|
|
NM_007194.4(CHEK2):c.629_632del (p.Ser210fs)
|
rs756131136
|
|
NM_007194.4(CHEK2):c.636T>A (p.Tyr212Ter)
|
|
|
NM_007194.4(CHEK2):c.655G>T (p.Glu219Ter)
|
rs1601805632
|
|
NM_007194.4(CHEK2):c.655del (p.Glu219fs)
|
rs786202497
|
|
NM_007194.4(CHEK2):c.657del (p.Glu219fs)
|
|
|
NM_007194.4(CHEK2):c.668C>G (p.Ser223Ter)
|
|
|
NM_007194.4(CHEK2):c.673del (p.Thr225fs)
|
rs1342011335
|
|
NM_007194.4(CHEK2):c.673dup (p.Thr225fs)
|
rs1342011335
|
|
NM_007194.4(CHEK2):c.680dup (p.Ser228fs)
|
|
|
NM_007194.4(CHEK2):c.688del (p.Ala230fs)
|
|
|
NM_007194.4(CHEK2):c.696del (p.Glu233fs)
|
|
|
NM_007194.4(CHEK2):c.696dup (p.Glu233fs)
|
rs1601784008
|
|
NM_007194.4(CHEK2):c.697G>T (p.Glu233Ter)
|
rs753972711
|
|
NM_007194.4(CHEK2):c.700_712del (p.Val234fs)
|
|
|
NM_007194.4(CHEK2):c.700delinsTTTAA (p.Val234fs)
|
rs1601783879
|
|
NM_007194.4(CHEK2):c.710_718delinsGG (p.Ala237fs)
|
|
|
NM_007194.4(CHEK2):c.715G>T (p.Glu239Ter)
|
rs121908702
|
|
NM_007194.4(CHEK2):c.724_725insG (p.Thr242fs)
|
|
|
NM_007194.4(CHEK2):c.726_727del (p.Thr242_Cys243insTer)
|
rs1392940377
|
|
NM_007194.4(CHEK2):c.729dup (p.Lys244Ter)
|
rs2145951132
|
|
NM_007194.4(CHEK2):c.733_736del (p.Lys244_Lys245insTer)
|
rs2053412352
|
|
NM_007194.4(CHEK2):c.743del (p.Ile248fs)
|
|
|
NM_007194.4(CHEK2):c.746dup (p.Ile250fs)
|
|
|
NM_007194.4(CHEK2):c.757A>T (p.Lys253Ter)
|
rs786201896
|
|
NM_007194.4(CHEK2):c.760del (p.Arg254fs)
|
rs2145949827
|
|
NM_007194.4(CHEK2):c.76dup (p.Thr26fs)
|
|
|
NM_007194.4(CHEK2):c.775_778del (p.Gly259fs)
|
|
|
NM_007194.4(CHEK2):c.776dup (p.Ser260fs)
|
rs2053407842
|
|
NM_007194.4(CHEK2):c.779C>G (p.Ser260Ter)
|
|
|
NM_007194.4(CHEK2):c.782del (p.Ala261fs)
|
|
|
NM_007194.4(CHEK2):c.787G>T (p.Glu263Ter)
|
rs730881686
|
|
NM_007194.4(CHEK2):c.788_789del (p.Glu263fs)
|
rs2145948828
|
|
NM_007194.4(CHEK2):c.79C>T (p.Gln27Ter)
|
rs376736188
|
|
NM_007194.4(CHEK2):c.815del (p.Thr272fs)
|
|
|
NM_007194.4(CHEK2):c.817G>T (p.Glu273Ter)
|
|
|
NM_007194.4(CHEK2):c.817_818del (p.Glu273fs)
|
rs1474786480
|
|
NM_007194.4(CHEK2):c.823G>T (p.Glu275Ter)
|
rs749963436
|
|
NM_007194.4(CHEK2):c.823del (p.Glu275fs)
|
rs769430546
|
|
NM_007194.4(CHEK2):c.826del (p.Ile276fs)
|
|
|
NM_007194.4(CHEK2):c.830del (p.Ile276_Leu277insTer)
|
|
|
NM_007194.4(CHEK2):c.835A>T (p.Lys279Ter)
|
|
|
NM_007194.4(CHEK2):c.836del (p.Lys279fs)
|
rs1555920142
|
|
NM_007194.4(CHEK2):c.842dup (p.Asn281fs)
|
rs2053330207
|
|
NM_007194.4(CHEK2):c.846+4_846+7del
|
rs764884641
|
|
NM_007194.4(CHEK2):c.852C>A (p.Cys284Ter)
|
rs1555917031
|
|
NM_007194.4(CHEK2):c.860del (p.Lys287fs)
|
rs886039731
|
|
NM_007194.4(CHEK2):c.865A>T (p.Lys289Ter)
|
|
|
NM_007194.4(CHEK2):c.869del (p.Asn290fs)
|
rs1422634212
|
|
NM_007194.4(CHEK2):c.875_876del (p.Phe291_Phe292insTer)
|
rs772683219
|
|
NM_007194.4(CHEK2):c.876del (p.Phe292fs)
|
rs772683219
|
|
NM_007194.4(CHEK2):c.876dup (p.Asp293Ter)
|
rs772683219
|
|
NM_007194.4(CHEK2):c.877del (p.Asp293fs)
|
|
|
NM_007194.4(CHEK2):c.879del (p.Asp293fs)
|
rs1555916968
|
|
NM_007194.4(CHEK2):c.891T>A (p.Tyr297Ter)
|
|
|
NM_007194.4(CHEK2):c.893_897del (p.Tyr298fs)
|
rs1390889028
|
|
NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter)
|
rs876659519
|
|
NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter)
|
rs886039739
|
|
NM_007194.4(CHEK2):c.902del (p.Leu301fs)
|
rs748005072
|
|
NM_007194.4(CHEK2):c.904G>T (p.Glu302Ter)
|
|
|
NM_007194.4(CHEK2):c.906del (p.Glu302fs)
|
rs2052974883
|
|
NM_007194.4(CHEK2):c.908T>A (p.Leu303Ter)
|
rs1233699096
|
|
NM_007194.4(CHEK2):c.919G>T (p.Gly307Ter)
|
rs1555915533
|
|
NM_007194.4(CHEK2):c.919_920del (p.Gly307fs)
|
rs786203053
|
|
NM_007194.4(CHEK2):c.919_920dup (p.Leu309fs)
|
|
|
NM_007194.4(CHEK2):c.920del (p.Gly307fs)
|
rs786203053
|
|
NM_007194.4(CHEK2):c.920dup (p.Glu308fs)
|
rs786203053
|
|
NM_007194.4(CHEK2):c.923_987del (p.Glu308fs)
|
|
|
NM_007194.4(CHEK2):c.952del (p.Arg318fs)
|
rs749153163
|
|
NM_007194.4(CHEK2):c.961G>T (p.Glu321Ter)
|
rs1555915433
|
|
NM_007194.4(CHEK2):c.975_978del (p.Lys325fs)
|
|
|
NM_007194.4(CHEK2):c.985del (p.Tyr329fs)
|
rs1569121048
|
|
NM_007194.4(CHEK2):c.985dup (p.Tyr329fs)
|
|
|
NM_007194.4(CHEK2):c.986dup (p.Tyr329Ter)
|
|
|
NM_007194.4(CHEK2):c.988C>T (p.Gln330Ter)
|
rs768973809
|
|
NM_007194.4(CHEK2):c.98C>A (p.Ser33Ter)
|
rs2054331180
|
|
NM_007194.4(CHEK2):c.98C>G (p.Ser33Ter)
|
|
|
NM_007194.4(CHEK2):c.992_999delinsGCTT (p.Met331fs)
|
|
|
NM_007194.4(CHEK2):c.993del (p.Met331fs)
|
|
|
NM_007294.4(BRCA1):c.1064del (p.Lys355fs)
|
|
|
NM_007294.4(BRCA1):c.1065del (p.Lys355fs)
|
|
|
NM_007294.4(BRCA1):c.117_121delinsGAG (p.Cys39fs)
|
|
|
NM_007294.4(BRCA1):c.1235_1238del (p.Val412fs)
|
|
|
NM_007294.4(BRCA1):c.1325del (p.Cys442fs)
|
|
|
NM_007294.4(BRCA1):c.1390_1391insG (p.Thr464fs)
|
rs397508867
|
|
NM_007294.4(BRCA1):c.144del (p.Met48fs)
|
rs80357682
|
|
NM_007294.4(BRCA1):c.1669_1670delinsT (p.Lys556_Thr557insTer)
|
|
|
NM_007294.4(BRCA1):c.1718del (p.Ser573fs)
|
|
|
NM_007294.4(BRCA1):c.176C>A (p.Ser59Ter)
|
rs199522616
|
|
NM_007294.4(BRCA1):c.1987del (p.Ser663fs)
|
|
|
NM_007294.4(BRCA1):c.2155_2161del (p.Lys719fs)
|
|
|
NM_007294.4(BRCA1):c.2197_2200del (p.Glu733fs)
|
|
|
NM_007294.4(BRCA1):c.227del (p.Ser76fs)
|
|
|
NM_007294.4(BRCA1):c.2283_2284del (p.Arg762fs)
|
rs80357657
|
|
NM_007294.4(BRCA1):c.2412dup (p.Cys805fs)
|
|
|
NM_007294.4(BRCA1):c.2548del (p.Ser850fs)
|
rs1555589434
|
|
NM_007294.4(BRCA1):c.2607dup (p.Ala870fs)
|
|
|
NM_007294.4(BRCA1):c.2646T>A (p.Cys882Ter)
|
|
|
NM_007294.4(BRCA1):c.2683del (p.Gln895fs)
|
rs2154364983
|
|
NM_007294.4(BRCA1):c.2868_2869del (p.Gln957fs)
|
|
|
NM_007294.4(BRCA1):c.2884_2888del (p.Glu962fs)
|
|
|
NM_007294.4(BRCA1):c.2933_2934del (p.Tyr978fs)
|
|
|
NM_007294.4(BRCA1):c.2938_2944del (p.Ile980fs)
|
|
|
NM_007294.4(BRCA1):c.2967_2970del (p.Phe989fs)
|
|
|
NM_007294.4(BRCA1):c.345dup (p.Glu116Ter)
|
|
|
NM_007294.4(BRCA1):c.3578_3581del (p.Phe1193fs)
|
|
|
NM_007294.4(BRCA1):c.3766del (p.Thr1256fs)
|
|
|
NM_007294.4(BRCA1):c.381dup (p.Met128fs)
|
|
|
NM_007294.4(BRCA1):c.3917del (p.Asp1305_Leu1306insTer)
|
rs886040175
|
|
NM_007294.4(BRCA1):c.4075del (p.Gln1359fs)
|
|
|
NM_007294.4(BRCA1):c.4231del (p.Met1411fs)
|
|
|
NM_007294.4(BRCA1):c.4242dup (p.Glu1415fs)
|
|
|
NM_007294.4(BRCA1):c.4317dup (p.Glu1440Ter)
|
|
|
NM_007294.4(BRCA1):c.4381dup (p.Ser1461fs)
|
|
|
NM_007294.4(BRCA1):c.4415_4417delinsGG (p.Leu1472fs)
|
|
|
NM_007294.4(BRCA1):c.4470_4473del (p.Pro1491fs)
|
|
|
NM_007294.4(BRCA1):c.4484+2T>G
|
rs1555582520
|
|
NM_007294.4(BRCA1):c.4554del (p.Asn1519fs)
|
|
|
NM_007294.4(BRCA1):c.4631del (p.Pro1544fs)
|
rs2153996908
|
|
NM_007294.4(BRCA1):c.4645_4646dup (p.Thr1550fs)
|
rs2153992821
|
|
NM_007294.4(BRCA1):c.4744delinsCC (p.Asp1582fs)
|
|
|
NM_007294.4(BRCA1):c.4883_4890del (p.Met1628fs)
|
|
|
NM_007294.4(BRCA1):c.5137dup (p.Val1713fs)
|
rs80357997
|
|
NM_007294.4(BRCA1):c.5182dup (p.Met1728fs)
|
rs34570933
|
|
NM_007294.4(BRCA1):c.5194-2A>T
|
rs80358069
|
|
NM_007294.4(BRCA1):c.5225del (p.Asn1742fs)
|
|
|
NM_007294.4(BRCA1):c.5260_5261del (p.Glu1754fs)
|
|
|
NM_007294.4(BRCA1):c.5309_5312dup (p.Phe1772fs)
|
|
|
NM_007294.4(BRCA1):c.5445G>A (p.Trp1815Ter)
|
rs397509284
|
|
NM_007294.4(BRCA1):c.5478_5490del (p.Gln1826fs)
|
|
|
NM_007294.4(BRCA1):c.5484_5496del (p.Cys1828fs)
|
|
|
NM_007294.4(BRCA1):c.5484dup (p.Glu1829Ter)
|
|
|
NM_007294.4(BRCA1):c.5554_5560del (p.Asp1851_Thr1852insTer)
|
|
|
NM_007294.4(BRCA1):c.60_61dup (p.Ile21fs)
|
|
|
NM_007294.4(BRCA1):c.61dup (p.Ile21fs)
|
|
|
NM_007294.4(BRCA1):c.62dup (p.Glu23fs)
|
rs397509303
|
|
NM_007294.4(BRCA1):c.846dup (p.Leu283fs)
|
|
|
NM_007294.4(BRCA1):c.870_871insAC (p.Leu291fs)
|
|
|
NM_012203.2(GRHPR):c.103del (p.Asp35fs)
|
rs80356708
|
|
NM_014625.4(NPHS2):c.855_856del (p.Arg286fs)
|
rs749740335
|
|
NM_015166.4(MLC1):c.135dup (p.Cys46fs)
|
rs80358241
|
|
NM_017739.4(POMGNT1):c.1895+1G>A
|
rs386834024
|
|
NM_017777.4(MKS1):c.1408-34_1408-6del
|
rs386834043
|
|
NM_017882.3(CLN6):c.791CCT[1] (p.Ser265del)
|
rs768422260
|
|
NM_020975.6(RET):c.1597G>T (p.Gly533Cys)
|
rs75873440
|
|
NM_020975.6(RET):c.1826G>C (p.Cys609Ser)
|
rs77939446
|
|
NM_020975.6(RET):c.1852T>G (p.Cys618Gly)
|
rs76262710
|
|
NM_020975.6(RET):c.1853G>C (p.Cys618Ser)
|
rs79781594
|
|
NM_020975.6(RET):c.1889G>A (p.Cys630Tyr)
|
rs377767405
|
|
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)
|
rs75996173
|
|
NM_020975.6(RET):c.2304_2307delinsCCTT (p.Glu768Asp)
|
|
|
NM_020975.6(RET):c.2370G>C (p.Leu790Phe)
|
rs75030001
|
|
NM_020975.6(RET):c.2410G>T (p.Val804Leu)
|
rs79658334
|
|
NM_020975.6(RET):c.2753T>C (p.Met918Thr)
|
rs74799832
|
|
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs)
|
rs34002892
|
|
NM_024675.3(PALB2):c.1675_1676inv (p.Gln559Ter)
|
|
|
NM_024675.3(PALB2):c.1724dup (p.Ser576Glufs)
|
rs1555460682
|
|
NM_024675.4(PALB2):c.1002C>A (p.Tyr334Ter)
|
rs1967002667
|
|
NM_024675.4(PALB2):c.1002C>G (p.Tyr334Ter)
|
|
|
NM_024675.4(PALB2):c.1011dup (p.Pro338fs)
|
|
|
NM_024675.4(PALB2):c.1013_1016delinsTGG (p.Pro338fs)
|
|
|
NM_024675.4(PALB2):c.1027C>T (p.Gln343Ter)
|
rs180177097
|
|
NM_024675.4(PALB2):c.1032_1033dup (p.Leu345fs)
|
rs1555461488
|
|
NM_024675.4(PALB2):c.1037_1041del (p.Lys346fs)
|
rs587776410
|
|
NM_024675.4(PALB2):c.1039G>T (p.Glu347Ter)
|
rs1060499812
|
|
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter)
|
rs375699023
|
|
NM_024675.4(PALB2):c.1042del (p.Gln348fs)
|
rs1597097408
|
|
NM_024675.4(PALB2):c.1046del (p.Asn349fs)
|
rs1555461484
|
|
NM_024675.4(PALB2):c.1047_1050del (p.Asn349fs)
|
rs1060499813
|
|
NM_024675.4(PALB2):c.1048C>T (p.Gln350Ter)
|
rs1060502788
|
|
NM_024675.4(PALB2):c.1050_1053del (p.Thr351fs)
|
rs515726060
|
|
NM_024675.4(PALB2):c.1056_1057del (p.Lys353fs)
|
rs180177099
|
|
NM_024675.4(PALB2):c.1056_1065del (p.Lys353fs)
|
rs2142426926
|
|
NM_024675.4(PALB2):c.1059_1077delinsGG (p.Ser354fs)
|
rs1555461460
|
|
NM_024675.4(PALB2):c.1059del (p.Lys353fs)
|
rs730881872
|
|
NM_024675.4(PALB2):c.1061del (p.Ser354fs)
|
|
|
NM_024675.4(PALB2):c.1064_1067del (p.Leu355fs)
|
|
|
NM_024675.4(PALB2):c.1064del (p.Ser354_Leu355insTer)
|
rs1555461472
|
|
NM_024675.4(PALB2):c.1068dup (p.Ser357fs)
|
|
|
NM_024675.4(PALB2):c.106C>T (p.Gln36Ter)
|
rs757369748
|
|
NM_024675.4(PALB2):c.1078_1084del (p.Asp360fs)
|
rs2142426385
|
|
NM_024675.4(PALB2):c.1082del (p.Thr361fs)
|
|
|
NM_024675.4(PALB2):c.1084_1085del (p.Thr361_Leu362insTer)
|
rs1597097182
|
|
NM_024675.4(PALB2):c.1085_1086del (p.Leu362fs)
|
rs786203399
|
|
NM_024675.4(PALB2):c.1097dup (p.Asn366fs)
|
|
|
NM_024675.4(PALB2):c.1100_1163del (p.Glu367fs)
|
|
|
NM_024675.4(PALB2):c.1106_1116del (p.Leu369fs)
|
rs2142425504
|
|
NM_024675.4(PALB2):c.1107del (p.Gln370fs)
|
|
|
NM_024675.4(PALB2):c.1108C>T (p.Gln370Ter)
|
rs587776411
|
|
NM_024675.4(PALB2):c.1111G>T (p.Glu371Ter)
|
|
|
NM_024675.4(PALB2):c.1114del (p.Ser372fs)
|
|
|
NM_024675.4(PALB2):c.1114dup (p.Ser372fs)
|
rs1060499815
|
|
NM_024675.4(PALB2):c.1117G>T (p.Glu373Ter)
|
rs1597097072
|
|
NM_024675.4(PALB2):c.1117del (p.Glu373fs)
|
|
|
NM_024675.4(PALB2):c.1122del (p.Ile374_Leu375insTer)
|
|
|
NM_024675.4(PALB2):c.1129C>T (p.Gln377Ter)
|
rs929474806
|
|
NM_024675.4(PALB2):c.1133del (p.Pro378fs)
|
|
|
NM_024675.4(PALB2):c.1142_1143del (p.Leu381fs)
|
rs2142424706
|
|
NM_024675.4(PALB2):c.1152_1153insCA (p.Ala385fs)
|
|
|
NM_024675.4(PALB2):c.1156del (p.Thr386fs)
|
rs1597096949
|
|
NM_024675.4(PALB2):c.1156dup (p.Thr386fs)
|
rs1597096949
|
|
NM_024675.4(PALB2):c.115C>T (p.Gln39Ter)
|
rs876659319
|
|
NM_024675.4(PALB2):c.1163dup (p.Leu389fs)
|
rs869312772
|
|
NM_024675.4(PALB2):c.1179dup (p.His394fs)
|
rs1567221417
|
|
NM_024675.4(PALB2):c.1183del (p.Ser395fs)
|
rs1555461415
|
|
NM_024675.4(PALB2):c.1186dup (p.Cys396fs)
|
rs1555461413
|
|
NM_024675.4(PALB2):c.1187dup (p.Cys396fs)
|
|
|
NM_024675.4(PALB2):c.1188C>A (p.Cys396Ter)
|
rs587780817
|
|
NM_024675.4(PALB2):c.1189del (p.Thr397fs)
|
|
|
NM_024675.4(PALB2):c.118del (p.Arg40fs)
|
rs1597101532
|
|
NM_024675.4(PALB2):c.1192del (p.Val398fs)
|
rs1555461407
|
|
NM_024675.4(PALB2):c.1202_1203insT (p.Leu402fs)
|
|
|
NM_024675.4(PALB2):c.1206del (p.Leu403fs)
|
rs876658431
|
|
NM_024675.4(PALB2):c.1207_1208del (p.Leu403fs)
|
|
|
NM_024675.4(PALB2):c.1209_1224del (p.Phe404fs)
|
|
|
NM_024675.4(PALB2):c.120del (p.Ala41fs)
|
|
|
NM_024675.4(PALB2):c.1216del (p.Ala406fs)
|
rs876659741
|
|
NM_024675.4(PALB2):c.1226dup (p.Tyr409Ter)
|
rs1966983494
|
|
NM_024675.4(PALB2):c.1227T>A (p.Tyr409Ter)
|
rs1555461386
|
|
NM_024675.4(PALB2):c.1227_1231del (p.Tyr409_Arg411delinsTer)
|
rs1555461385
|
|
NM_024675.4(PALB2):c.1227del (p.Tyr408_Tyr409insTer)
|
|
|
NM_024675.4(PALB2):c.123del (p.Glu42fs)
|
rs1967104136
|
|
NM_024675.4(PALB2):c.1241_1356del (p.Arg414fs)
|
|
|
NM_024675.4(PALB2):c.1242_1243dup (p.Ser415fs)
|
|
|
NM_024675.4(PALB2):c.1266del (p.Lys422_Val423insTer)
|
rs1555461366
|
|
NM_024675.4(PALB2):c.1288C>T (p.Gln430Ter)
|
rs1555461358
|
|
NM_024675.4(PALB2):c.128dup (p.Ile44fs)
|
|
|
NM_024675.4(PALB2):c.1291_1292del (p.His432fs)
|
rs786203057
|
|
NM_024675.4(PALB2):c.1296_1306del (p.His432fs)
|
|
|
NM_024675.4(PALB2):c.12dup (p.Pro5fs)
|
rs879254062
|
|
NM_024675.4(PALB2):c.1314del (p.Phe440fs)
|
rs515726065
|
|
NM_024675.4(PALB2):c.1317del (p.Phe440fs)
|
rs515726067
|
|
NM_024675.4(PALB2):c.1320dup (p.Lys441Ter)
|
rs2142419403
|
|
NM_024675.4(PALB2):c.1327A>T (p.Lys443Ter)
|
rs1555461339
|
|
NM_024675.4(PALB2):c.1331del (p.Asn444fs)
|
|
|
NM_024675.4(PALB2):c.1348_1349del (p.Asn450fs)
|
|
|
NM_024675.4(PALB2):c.1352dup (p.Leu451fs)
|
rs1597096326
|
|
NM_024675.4(PALB2):c.1359_1360insGT (p.Ser454fs)
|
rs2142418386
|
|
NM_024675.4(PALB2):c.1360del (p.Ser454fs)
|
|
|
NM_024675.4(PALB2):c.1366G>T (p.Glu456Ter)
|
rs1060502785
|
|
NM_024675.4(PALB2):c.1369del (p.Glu457fs)
|
rs2142418150
|
|
NM_024675.4(PALB2):c.1378C>T (p.Gln460Ter)
|
rs876658166
|
|
NM_024675.4(PALB2):c.1392del (p.Met465fs)
|
|
|
NM_024675.4(PALB2):c.1408_1411dup (p.Gly471fs)
|
|
|
NM_024675.4(PALB2):c.1414C>T (p.Gln472Ter)
|
|
|
NM_024675.4(PALB2):c.1416_1431del (p.Gln472fs)
|
|
|
NM_024675.4(PALB2):c.1416del (p.Gln472fs)
|
|
|
NM_024675.4(PALB2):c.1417_1433del (p.Pro473fs)
|
|
|
NM_024675.4(PALB2):c.1424C>A (p.Ser475Ter)
|
rs886039479
|
|
NM_024675.4(PALB2):c.1424C>G (p.Ser475Ter)
|
rs886039479
|
|
NM_024675.4(PALB2):c.1424dup (p.Arg476fs)
|
rs1555461294
|
|
NM_024675.4(PALB2):c.1425_1426insT (p.Arg476Ter)
|
rs876659341
|
|
NM_024675.4(PALB2):c.1434_1435del (p.Gln479fs)
|
|
|
NM_024675.4(PALB2):c.1438A>T (p.Lys480Ter)
|
rs1057520653
|
|
NM_024675.4(PALB2):c.1438_1441del (p.Lys480fs)
|
|
|
NM_024675.4(PALB2):c.1440del (p.Lys480fs)
|
rs1555461278
|
|
NM_024675.4(PALB2):c.1442_1443del (p.Leu481fs)
|
|
|
NM_024675.4(PALB2):c.1447_1448del (p.Ser483fs)
|
rs1966967463
|
|
NM_024675.4(PALB2):c.1448C>A (p.Ser483Ter)
|
rs1057520736
|
|
NM_024675.4(PALB2):c.1451T>A (p.Leu484Ter)
|
rs786203714
|
|
NM_024675.4(PALB2):c.1453del (p.Thr485fs)
|
|
|
NM_024675.4(PALB2):c.1454_1458del (p.Thr485fs)
|
rs2142415370
|
|
NM_024675.4(PALB2):c.1465del (p.Ser489fs)
|
rs1064793220
|
|
NM_024675.4(PALB2):c.1476del (p.Thr494fs)
|
|
|
NM_024675.4(PALB2):c.1479del (p.Thr494fs)
|
rs515726071
|
|
NM_024675.4(PALB2):c.1485del (p.Asp496fs)
|
rs1555461256
|
|
NM_024675.4(PALB2):c.1490del (p.Asn497fs)
|
rs1555461253
|
|
NM_024675.4(PALB2):c.1524del (p.Gly509fs)
|
|
|
NM_024675.4(PALB2):c.1535dup (p.Tyr512Ter)
|
rs1966959467
|
|
NM_024675.4(PALB2):c.1536C>A (p.Tyr512Ter)
|
rs1567220802
|
|
NM_024675.4(PALB2):c.1536C>G (p.Tyr512Ter)
|
|
|
NM_024675.4(PALB2):c.1538del (p.Thr513fs)
|
rs879253892
|
|
NM_024675.4(PALB2):c.1543A>T (p.Lys515Ter)
|
|
|
NM_024675.4(PALB2):c.1546del (p.Arg516fs)
|
rs587781560
|
|
NM_024675.4(PALB2):c.1546dup (p.Arg516fs)
|
rs587781560
|
|
NM_024675.4(PALB2):c.1547_1548del (p.Arg516fs)
|
rs2142412914
|
|
NM_024675.4(PALB2):c.1550_1551del (p.Lys517fs)
|
|
|
NM_024675.4(PALB2):c.1551dup (p.Ser518fs)
|
|
|
NM_024675.4(PALB2):c.1553C>A (p.Ser518Ter)
|
rs1060502805
|
|
NM_024675.4(PALB2):c.1553C>G (p.Ser518Ter)
|
rs1060502805
|
|
NM_024675.4(PALB2):c.1560C>A (p.Cys520Ter)
|
|
|
NM_024675.4(PALB2):c.1565del (p.Pro522fs)
|
rs1555461217
|
|
NM_024675.4(PALB2):c.1571C>G (p.Ser524Ter)
|
rs587776413
|
|
NM_024675.4(PALB2):c.1582G>T (p.Glu528Ter)
|
|
|
NM_024675.4(PALB2):c.1587_1589delinsCC (p.Leu531fs)
|
|
|
NM_024675.4(PALB2):c.1591_1592del (p.Leu531fs)
|
rs180177102
|
|
NM_024675.4(PALB2):c.1592T>A (p.Leu531Ter)
|
|
|
NM_024675.4(PALB2):c.1592del (p.Leu531fs)
|
rs180177102
|
|
NM_024675.4(PALB2):c.1610C>A (p.Ser537Ter)
|
|
|
NM_024675.4(PALB2):c.1614del (p.Ile538fs)
|
|
|
NM_024675.4(PALB2):c.1619dup (p.Asn540fs)
|
rs1555461192
|
|
NM_024675.4(PALB2):c.1641_1669del (p.Ser548fs)
|
|
|
NM_024675.4(PALB2):c.1643C>G (p.Ser548Ter)
|
rs1241049372
|
|
NM_024675.4(PALB2):c.1644del (p.His549fs)
|
|
|
NM_024675.4(PALB2):c.1645del (p.His549fs)
|
|
|
NM_024675.4(PALB2):c.1647del (p.His549fs)
|
|
|
NM_024675.4(PALB2):c.1648A>T (p.Lys550Ter)
|
rs1555461178
|
|
NM_024675.4(PALB2):c.1653T>G (p.Tyr551Ter)
|
rs118203997
|
|
NM_024675.4(PALB2):c.1653del (p.Gln552fs)
|
rs1555461174
|
|
NM_024675.4(PALB2):c.1668dup (p.Phe557fs)
|
|
|
NM_024675.4(PALB2):c.1671_1674del (p.Ile558fs)
|
rs1060502734
|
|
NM_024675.4(PALB2):c.1671_1676delinsCG (p.Ile558fs)
|
|
|
NM_024675.4(PALB2):c.1676_1677delinsG (p.Gln559fs)
|
rs515726073
|
|
NM_024675.4(PALB2):c.1677del (p.Gln559_Val560insTer)
|
rs515726073
|
|
NM_024675.4(PALB2):c.1677dup (p.Val560fs)
|
|
|
NM_024675.4(PALB2):c.1704_1707del (p.Lys569fs)
|
rs1060502759
|
|
NM_024675.4(PALB2):c.1706_1707del (p.Lys569fs)
|
rs1060502759
|
|
NM_024675.4(PALB2):c.1714del (p.Ser572fs)
|
rs879254121
|
|
NM_024675.4(PALB2):c.1723del (p.Trp575fs)
|
|
|
NM_024675.4(PALB2):c.1724G>A (p.Trp575Ter)
|
rs730881876
|
|
NM_024675.4(PALB2):c.1725G>A (p.Trp575Ter)
|
|
|
NM_024675.4(PALB2):c.172_175del (p.Gln60fs)
|
rs180177143
|
|
NM_024675.4(PALB2):c.1733del (p.Ser578fs)
|
|
|
NM_024675.4(PALB2):c.1740T>G (p.Tyr580Ter)
|
|
|
NM_024675.4(PALB2):c.1741_1744del (p.Leu581fs)
|
rs1555460671
|
|
NM_024675.4(PALB2):c.1742del (p.Leu581fs)
|
rs1060502803
|
|
NM_024675.4(PALB2):c.1753del (p.Asp585fs)
|
rs1555460670
|
|
NM_024675.4(PALB2):c.1786G>T (p.Gly596Ter)
|
rs1966866081
|
|
NM_024675.4(PALB2):c.1789del (p.Met597fs)
|
rs1555460650
|
|
NM_024675.4(PALB2):c.178C>T (p.Gln60Ter)
|
rs886039747
|
|
NM_024675.4(PALB2):c.1796_1805del (p.Ser599fs)
|
|
|
NM_024675.4(PALB2):c.1799T>G (p.Leu600Ter)
|
rs1966865838
|
|
NM_024675.4(PALB2):c.1804C>T (p.Gln602Ter)
|
rs876660475
|
|
NM_024675.4(PALB2):c.1807del (p.Leu603fs)
|
rs2142388816
|
|
NM_024675.4(PALB2):c.1815_1843del (p.Ser605_Phe606insTer)
|
|
|
NM_024675.4(PALB2):c.1817_1818del (p.Phe606fs)
|
rs1060499818
|
|
NM_024675.4(PALB2):c.1819del (p.Leu607fs)
|
|
|
NM_024675.4(PALB2):c.181C>T (p.Gln61Ter)
|
rs1967100637
|
|
NM_024675.4(PALB2):c.1837C>T (p.Gln613Ter)
|
rs1966865214
|
|
NM_024675.4(PALB2):c.1838del (p.Gln613fs)
|
rs1057517602
|
|
NM_024675.4(PALB2):c.1841T>A (p.Leu614Ter)
|
|
|
NM_024675.4(PALB2):c.1857del (p.Phe619fs)
|
rs1966864847
|
|
NM_024675.4(PALB2):c.1858G>T (p.Gly620Ter)
|
|
|
NM_024675.4(PALB2):c.185del (p.Asp62fs)
|
|
|
NM_024675.4(PALB2):c.1892C>G (p.Ser631Ter)
|
|
|
NM_024675.4(PALB2):c.1915G>T (p.Glu639Ter)
|
rs1555460592
|
|
NM_024675.4(PALB2):c.1919C>A (p.Ser640Ter)
|
rs760094988
|
|
NM_024675.4(PALB2):c.1919C>G (p.Ser640Ter)
|
rs760094988
|
|
NM_024675.4(PALB2):c.191C>A (p.Ser64Ter)
|
|
|
NM_024675.4(PALB2):c.1924del (p.Met642fs)
|
rs730881865
|
|
NM_024675.4(PALB2):c.1926del (p.Met642fs)
|
|
|
NM_024675.4(PALB2):c.1945A>T (p.Lys649Ter)
|
rs1555460579
|
|
NM_024675.4(PALB2):c.1947dup (p.Glu650fs)
|
rs515726075
|
|
NM_024675.4(PALB2):c.1948G>T (p.Glu650Ter)
|
|
|
NM_024675.4(PALB2):c.1952_1955dup (p.Ser652fs)
|
|
|
NM_024675.4(PALB2):c.1965del (p.Pro656fs)
|
rs1597090596
|
|
NM_024675.4(PALB2):c.1965dup (p.Pro656fs)
|
rs1597090596
|
|
NM_024675.4(PALB2):c.1966_1967insAGAGGAAGCTGTATTTTTC (p.Pro656fs)
|
rs786204129
|
|
NM_024675.4(PALB2):c.1968_1976delinsGG (p.Glu657fs)
|
|
|
NM_024675.4(PALB2):c.1969_1981dup (p.Pro661fs)
|
rs1966862408
|
|
NM_024675.4(PALB2):c.1972del (p.Glu658fs)
|
rs1555460548
|
|
NM_024675.4(PALB2):c.1984A>T (p.Lys662Ter)
|
rs1555460533
|
|
NM_024675.4(PALB2):c.1990_1991insGTTC (p.Met664fs)
|
rs2142384044
|
|
NM_024675.4(PALB2):c.199del (p.Gln66_Leu67insTer)
|
|
|
NM_024675.4(PALB2):c.2005del (p.Glu669fs)
|
|
|
NM_024675.4(PALB2):c.2006del (p.Glu669fs)
|
rs587778584
|
|
NM_024675.4(PALB2):c.2016_2017insT (p.Glu673Ter)
|
rs1966861886
|
|
NM_024675.4(PALB2):c.2016dup (p.Glu673fs)
|
rs1966861906
|
|
NM_024675.4(PALB2):c.201_204dup (p.His69fs)
|
|
|
NM_024675.4(PALB2):c.2032del (p.Leu678fs)
|
rs730881866
|
|
NM_024675.4(PALB2):c.2038G>T (p.Gly680Ter)
|
|
|
NM_024675.4(PALB2):c.204del (p.Lys68fs)
|
rs1555462031
|
|
NM_024675.4(PALB2):c.2052del (p.Arg686fs)
|
rs587782680
|
|
NM_024675.4(PALB2):c.2066C>A (p.Ser689Ter)
|
rs749602688
|
|
NM_024675.4(PALB2):c.2067_2068delinsTT (p.Gln690Ter)
|
rs2142382015
|
|
NM_024675.4(PALB2):c.2068C>T (p.Gln690Ter)
|
|
|
NM_024675.4(PALB2):c.2072del (p.Ser691fs)
|
|
|
NM_024675.4(PALB2):c.2074C>T (p.Gln692Ter)
|
rs587776415
|
|
NM_024675.4(PALB2):c.2083A>T (p.Lys695Ter)
|
rs1567218141
|
|
NM_024675.4(PALB2):c.2092del (p.Leu698fs)
|
rs1060499819
|
|
NM_024675.4(PALB2):c.2095dup (p.Ser699fs)
|
|
|
NM_024675.4(PALB2):c.209C>G (p.Ser70Ter)
|
rs763745734
|
|
NM_024675.4(PALB2):c.20dup (p.Pro8fs)
|
|
|
NM_024675.4(PALB2):c.2100_2110del (p.Ser701fs)
|
rs1555460490
|
|
NM_024675.4(PALB2):c.2104_2107delinsTAA (p.Ile702_Leu703delinsTer)
|
|
|
NM_024675.4(PALB2):c.2105dup (p.Leu703fs)
|
rs2142381049
|
|
NM_024675.4(PALB2):c.2120del (p.Pro707fs)
|
rs587780210
|
|
NM_024675.4(PALB2):c.2123T>A (p.Leu708Ter)
|
rs1597090059
|
|
NM_024675.4(PALB2):c.2128dup (p.Thr710fs)
|
|
|
NM_024675.4(PALB2):c.2139_2178del (p.Asp714fs)
|
|
|
NM_024675.4(PALB2):c.2145_2146del (p.Asp715fs)
|
rs515726081
|
|
NM_024675.4(PALB2):c.2154del (p.Arg718fs)
|
rs730881867
|
|
NM_024675.4(PALB2):c.2160_2161insG (p.Thr721fs)
|
rs1555460465
|
|
NM_024675.4(PALB2):c.2161_2186dup (p.Ile730fs)
|
|
|
NM_024675.4(PALB2):c.2161del (p.Thr721fs)
|
rs1597089904
|
|
NM_024675.4(PALB2):c.2174C>G (p.Ser725Ter)
|
|
|
NM_024675.4(PALB2):c.2177dup (p.Ala727fs)
|
|
|
NM_024675.4(PALB2):c.2183del (p.Phe728fs)
|
|
|
NM_024675.4(PALB2):c.2185_2186insA (p.Pro729fs)
|
rs1597089845
|
|
NM_024675.4(PALB2):c.2187del (p.Ile730fs)
|
rs1567217908
|
|
NM_024675.4(PALB2):c.2190del (p.Ile730_Leu731insTer)
|
|
|
NM_024675.4(PALB2):c.2192T>G (p.Leu731Ter)
|
rs1567217898
|
|
NM_024675.4(PALB2):c.2194_2200del (p.Gly732fs)
|
rs1555460457
|
|
NM_024675.4(PALB2):c.2205dup (p.Ala736fs)
|
|
|
NM_024675.4(PALB2):c.2218C>T (p.Gln740Ter)
|
rs1555460445
|
|
NM_024675.4(PALB2):c.2219_2220del (p.Gln740fs)
|
rs1555460442
|
|
NM_024675.4(PALB2):c.2223_2224delinsG
|
rs1567217830
|
|
NM_024675.4(PALB2):c.2229T>A (p.Tyr743Ter)
|
rs730881888
|
|
NM_024675.4(PALB2):c.223A>T (p.Lys75Ter)
|
rs1555461875
|
|
NM_024675.4(PALB2):c.2244_2247dup (p.Val750fs)
|
|
|
NM_024675.4(PALB2):c.2245G>T (p.Glu749Ter)
|
rs1555460431
|
|
NM_024675.4(PALB2):c.224_228del (p.Lys75fs)
|
rs1064795640
|
|
NM_024675.4(PALB2):c.2255_2267dup (p.Cys756fs)
|
rs1555460423
|
|
NM_024675.4(PALB2):c.2261del (p.Thr754fs)
|
|
|
NM_024675.4(PALB2):c.2263_2266dup (p.Cys756fs)
|
|
|
NM_024675.4(PALB2):c.2267_2283dup (p.His762fs)
|
rs755471995
|
|
NM_024675.4(PALB2):c.226del (p.Ile76fs)
|
rs587782443
|
|
NM_024675.4(PALB2):c.2275C>T (p.Gln759Ter)
|
rs515726083
|
|
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.2292dup (p.Asp765fs)
|
|
|
NM_024675.4(PALB2):c.2296_2297del (p.Val767fs)
|
rs876658170
|
|
NM_024675.4(PALB2):c.2297C>A (p.Ser766Ter)
|
|
|
NM_024675.4(PALB2):c.2298dup (p.Val767fs)
|
rs1555460407
|
|
NM_024675.4(PALB2):c.2305del (p.Ala770fs)
|
|
|
NM_024675.4(PALB2):c.2323C>T (p.Gln775Ter)
|
rs180177111
|
|
NM_024675.4(PALB2):c.2325dup (p.Phe776fs)
|
rs876659997
|
|
NM_024675.4(PALB2):c.2350A>T (p.Lys784Ter)
|
rs1833331932
|
|
NM_024675.4(PALB2):c.2353_2354del (p.Pro785fs)
|
rs2142374907
|
|
NM_024675.4(PALB2):c.2359dup (p.Thr787fs)
|
rs2142374794
|
|
NM_024675.4(PALB2):c.2368C>T (p.Gln790Ter)
|
rs886039480
|
|
NM_024675.4(PALB2):c.2375C>G (p.Ser792Ter)
|
rs1060502748
|
|
NM_024675.4(PALB2):c.2382_2394delinsTC (p.Arg794fs)
|
|
|
NM_024675.4(PALB2):c.2389C>T (p.Gln797Ter)
|
rs1060502768
|
|
NM_024675.4(PALB2):c.2391del (p.Gln797fs)
|
rs1555460360
|
|
NM_024675.4(PALB2):c.2393_2394dup (p.Thr799fs)
|
rs1966856749
|
|
NM_024675.4(PALB2):c.2405del (p.Cys802fs)
|
rs1966856604
|
|
NM_024675.4(PALB2):c.2406_2407del (p.Cys802_Asp803delinsTer)
|
rs1966856585
|
|
NM_024675.4(PALB2):c.2408_2409dup (p.Ser804fs)
|
|
|
NM_024675.4(PALB2):c.2411_2412del (p.Ser804fs)
|
rs747148023
|
|
NM_024675.4(PALB2):c.2425_2432delinsCAG (p.Thr809fs)
|
|
|
NM_024675.4(PALB2):c.2425del (p.Thr809fs)
|
|
|
NM_024675.4(PALB2):c.2430_2431del (p.Pro811fs)
|
rs1555460334
|
|
NM_024675.4(PALB2):c.2441_2447del (p.Glu814fs)
|
|
|
NM_024675.4(PALB2):c.2444C>A (p.Ser815Ter)
|
|
|
NM_024675.4(PALB2):c.2444C>G (p.Ser815Ter)
|
|
|
NM_024675.4(PALB2):c.2444_2451delinsGGTGGTG (p.Ser815fs)
|
|
|
NM_024675.4(PALB2):c.2453_2455delinsCT (p.Phe818fs)
|
|
|
NM_024675.4(PALB2):c.2456_2463del (p.Lys819fs)
|
rs1555460325
|
|
NM_024675.4(PALB2):c.2462del (p.Asn821fs)
|
|
|
NM_024675.4(PALB2):c.2463delinsAA (p.Asn821fs)
|
|
|
NM_024675.4(PALB2):c.2464C>T (p.Gln822Ter)
|
rs1555460323
|
|
NM_024675.4(PALB2):c.2470del (p.Cys824fs)
|
rs876658348
|
|
NM_024675.4(PALB2):c.2470dup (p.Cys824fs)
|
rs863224521
|
|
NM_024675.4(PALB2):c.2477del (p.Asn826fs)
|
|
|
NM_024675.4(PALB2):c.2480_2481del (p.Thr827fs)
|
rs1555460315
|
|
NM_024675.4(PALB2):c.2485C>T (p.Gln829Ter)
|
rs1966855759
|
|
NM_024675.4(PALB2):c.2488del (p.Glu830fs)
|
rs876658813
|
|
NM_024675.4(PALB2):c.2498_2505del (p.Lys833fs)
|
|
|
NM_024675.4(PALB2):c.249del (p.His83fs)
|
|
|
NM_024675.4(PALB2):c.2503del (p.Ser835fs)
|
|
|
NM_024675.4(PALB2):c.2509G>T (p.Glu837Ter)
|
rs587778587
|
|
NM_024675.4(PALB2):c.2512C>T (p.Gln838Ter)
|
rs750650768
|
|
NM_024675.4(PALB2):c.2528del (p.Glu843fs)
|
|
|
NM_024675.4(PALB2):c.2534_2540del (p.Pro845fs)
|
|
|
NM_024675.4(PALB2):c.2549dup (p.Asn851fs)
|
|
|
NM_024675.4(PALB2):c.2552_2556del (p.Asn851fs)
|
|
|
NM_024675.4(PALB2):c.2552dup (p.Asn851fs)
|
|
|
NM_024675.4(PALB2):c.2560_2561del (p.Asn854fs)
|
rs1597088146
|
|
NM_024675.4(PALB2):c.2563del (p.Leu855fs)
|
rs1966853795
|
|
NM_024675.4(PALB2):c.2566C>T (p.Gln856Ter)
|
rs770996884
|
|
NM_024675.4(PALB2):c.2570dup (p.Leu857fs)
|
|
|
NM_024675.4(PALB2):c.2576C>A (p.Ser859Ter)
|
rs1057517539
|
|
NM_024675.4(PALB2):c.2579del (p.Glu860fs)
|
|
|
NM_024675.4(PALB2):c.2585del (p.Lys862fs)
|
rs752513498
|
|
NM_024675.4(PALB2):c.2594C>G (p.Ser865Ter)
|
rs746604683
|
|
NM_024675.4(PALB2):c.2604T>A (p.Cys868Ter)
|
|
|
NM_024675.4(PALB2):c.2604_2611del (p.Cys868_Asp871delinsTer)
|
rs1966842803
|
|
NM_024675.4(PALB2):c.2607del (p.Ser869_Val870insTer)
|
rs767633741
|
|
NM_024675.4(PALB2):c.2607dup (p.Val870fs)
|
rs767633741
|
|
NM_024675.4(PALB2):c.2613del (p.Asp871fs)
|
|
|
NM_024675.4(PALB2):c.261dup (p.Leu88fs)
|
|
|
NM_024675.4(PALB2):c.2630G>A (p.Trp877Ter)
|
rs876660678
|
|
NM_024675.4(PALB2):c.2630_2643dup (p.Cys882fs)
|
rs2142355316
|
|
NM_024675.4(PALB2):c.2632G>T (p.Glu878Ter)
|
rs1555459999
|
|
NM_024675.4(PALB2):c.2634_2635del (p.Arg879fs)
|
rs876660643
|
|
NM_024675.4(PALB2):c.2635A>T (p.Arg879Ter)
|
|
|
NM_024675.4(PALB2):c.2641_2654del (p.Gly881fs)
|
|
|
NM_024675.4(PALB2):c.2642_2645dup (p.Cys882fs)
|
rs730881868
|
|
NM_024675.4(PALB2):c.2647A>T (p.Lys883Ter)
|
|
|
NM_024675.4(PALB2):c.2649dup (p.Glu884fs)
|
|
|
NM_024675.4(PALB2):c.264del (p.Asp89fs)
|
|
|
NM_024675.4(PALB2):c.2650G>T (p.Glu884Ter)
|
rs1304351755
|
|
NM_024675.4(PALB2):c.2655_2656insG (p.Cys886fs)
|
|
|
NM_024675.4(PALB2):c.2658T>A (p.Cys886Ter)
|
|
|
NM_024675.4(PALB2):c.2673C>A (p.Cys891Ter)
|
rs78179744
|
|
NM_024675.4(PALB2):c.2674G>T (p.Glu892Ter)
|
rs45476495
|
|
NM_024675.4(PALB2):c.2686dup (p.Ser896fs)
|
rs1555459954
|
|
NM_024675.4(PALB2):c.268G>T (p.Glu90Ter)
|
|
|
NM_024675.4(PALB2):c.2693G>A (p.Trp898Ter)
|
rs876658983
|
|
NM_024675.4(PALB2):c.2694G>A (p.Trp898Ter)
|
rs1555459949
|
|
NM_024675.4(PALB2):c.2702del (p.Leu901fs)
|
|
|
NM_024675.4(PALB2):c.2711G>A (p.Trp904Ter)
|
rs1060502726
|
|
NM_024675.4(PALB2):c.2712G>A (p.Trp904Ter)
|
rs587781457
|
|
NM_024675.4(PALB2):c.2712del (p.Trp904fs)
|
|
|
NM_024675.4(PALB2):c.2716del (p.Trp906fs)
|
rs1966842388
|
|
NM_024675.4(PALB2):c.2717G>A (p.Trp906Ter)
|
|
|
NM_024675.4(PALB2):c.2718G>A (p.Trp906Ter)
|
rs180177122
|
|
NM_024675.4(PALB2):c.2719del (p.Glu907fs)
|
rs1555459934
|
|
NM_024675.4(PALB2):c.2725del (p.Leu909fs)
|
|
|
NM_024675.4(PALB2):c.2727_2728del (p.Thr911fs)
|
rs730881869
|
|
NM_024675.4(PALB2):c.2728del (p.Tyr910fs)
|
rs730881869
|
|
NM_024675.4(PALB2):c.2735G>A (p.Trp912Ter)
|
|
|
NM_024675.4(PALB2):c.2736G>A (p.Trp912Ter)
|
rs1555459925
|
|
NM_024675.4(PALB2):c.2743dup (p.Ala915fs)
|
|
|
NM_024675.4(PALB2):c.2759T>G (p.Leu920Ter)
|
rs1567214493
|
|
NM_024675.4(PALB2):c.2759dup (p.Leu920fs)
|
|
|
NM_024675.4(PALB2):c.2760dup (p.Gln921fs)
|
rs876660147
|
|
NM_024675.4(PALB2):c.2761C>T (p.Gln921Ter)
|
rs180177124
|
|
NM_024675.4(PALB2):c.2762del (p.Gln921fs)
|
rs1567214484
|
|
NM_024675.4(PALB2):c.2767del (p.Val923fs)
|
|
|
NM_024675.4(PALB2):c.2771del (p.Pro924fs)
|
rs2142344237
|
|
NM_024675.4(PALB2):c.2773del (p.Val925fs)
|
rs1597082860
|
|
NM_024675.4(PALB2):c.2800_2801del (p.Val934fs)
|
rs2142343437
|
|
NM_024675.4(PALB2):c.2815_2822del (p.Leu939fs)
|
|
|
NM_024675.4(PALB2):c.2818del (p.Glu940fs)
|
rs1555459709
|
|
NM_024675.4(PALB2):c.2820_2821del (p.Glu940fs)
|
|
|
NM_024675.4(PALB2):c.2821del (p.Ile941fs)
|
|
|
NM_024675.4(PALB2):c.2827_2830del (p.Glu943fs)
|
rs1224428422
|
|
NM_024675.4(PALB2):c.2832del (p.Arg945fs)
|
rs1060499823
|
|
NM_024675.4(PALB2):c.2845del (p.Cys949fs)
|
|
|
NM_024675.4(PALB2):c.2850del (p.Ser951fs)
|
rs1060499824
|
|
NM_024675.4(PALB2):c.2866G>T (p.Glu956Ter)
|
rs1219715328
|
|
NM_024675.4(PALB2):c.2870del (p.Lys957fs)
|
|
|
NM_024675.4(PALB2):c.2878del (p.Leu960fs)
|
rs1064795824
|
|
NM_024675.4(PALB2):c.2888_2902delinsA (p.Ser963fs)
|
|
|
NM_024675.4(PALB2):c.2915del (p.Leu972fs)
|
rs1555459553
|
|
NM_024675.4(PALB2):c.2920_2921del (p.Lys974fs)
|
rs180177126
|
|
NM_024675.4(PALB2):c.2923_2924del (p.Arg975fs)
|
rs1966801432
|
|
NM_024675.4(PALB2):c.2931dup (p.Val978fs)
|
rs587782570
|
|
NM_024675.4(PALB2):c.2936del (p.Ser979fs)
|
rs1060502781
|
|
NM_024675.4(PALB2):c.2938del (p.Ser980fs)
|
rs1555459540
|
|
NM_024675.4(PALB2):c.2953del (p.Ser985fs)
|
rs1597081202
|
|
NM_024675.4(PALB2):c.295dup (p.Thr99fs)
|
|
|
NM_024675.4(PALB2):c.2962C>T (p.Gln988Ter)
|
rs118203999
|
|
NM_024675.4(PALB2):c.2962_2963del (p.Gln988fs)
|
rs1555459528
|
|
NM_024675.4(PALB2):c.2964del (p.Gln988_Val989insTer)
|
rs587781840
|
|
NM_024675.4(PALB2):c.2968G>T (p.Glu990Ter)
|
rs876659036
|
|
NM_024675.4(PALB2):c.2974_2975del (p.Met992fs)
|
rs1966798806
|
|
NM_024675.4(PALB2):c.2974_2975dup (p.Met992fs)
|
rs1555459520
|
|
NM_024675.4(PALB2):c.2978_2994del (p.Thr993fs)
|
|
|
NM_024675.4(PALB2):c.2982dup (p.Ala995fs)
|
rs180177127
|
|
NM_024675.4(PALB2):c.2986G>T (p.Glu996Ter)
|
rs786203775
|
|
NM_024675.4(PALB2):c.298del (p.Asp101fs)
|
|
|
NM_024675.4(PALB2):c.2994del (p.Gly999fs)
|
|
|
NM_024675.4(PALB2):c.2995G>T (p.Gly999Ter)
|
|
|
NM_024675.4(PALB2):c.2999_3001delinsAC (p.Gly1000fs)
|
rs1597079941
|
|
NM_024675.4(PALB2):c.2999del (p.Gly1000fs)
|
rs1966773290
|
|
NM_024675.4(PALB2):c.3004G>T (p.Glu1002Ter)
|
|
|
NM_024675.4(PALB2):c.3004_3007del (p.Glu1002fs)
|
rs786203488
|
|
NM_024675.4(PALB2):c.3004_3008del (p.Glu1002fs)
|
|
|
NM_024675.4(PALB2):c.3008_3009delinsTTACAGAGG (p.Asn1003fs)
|
|
|
NM_024675.4(PALB2):c.3008dup (p.Asn1003fs)
|
rs1567213009
|
|
NM_024675.4(PALB2):c.3010C>T (p.Gln1004Ter)
|
|
|
NM_024675.4(PALB2):c.3017del (p.Phe1005_Leu1006insTer)
|
rs886039683
|
|
NM_024675.4(PALB2):c.3017dup (p.Leu1006fs)
|
|
|
NM_024675.4(PALB2):c.3026_3027insA (p.Pro1009_Glu1010insTer)
|
|
|
NM_024675.4(PALB2):c.3026del (p.Pro1009fs)
|
rs180177131
|
|
NM_024675.4(PALB2):c.3027del (p.Glu1010fs)
|
rs876659378
|
|
NM_024675.4(PALB2):c.3028G>T (p.Glu1010Ter)
|
rs1966771907
|
|
NM_024675.4(PALB2):c.3031_3046del (p.Glu1011fs)
|
|
|
NM_024675.4(PALB2):c.3038_3039del (p.Ile1013fs)
|
rs1597079810
|
|
NM_024675.4(PALB2):c.3048del (p.Phe1016fs)
|
rs515726104
|
|
NM_024675.4(PALB2):c.3048dup (p.Ala1017fs)
|
|
|
NM_024675.4(PALB2):c.3058C>T (p.Gln1020Ter)
|
rs2142327117
|
|
NM_024675.4(PALB2):c.3062_3063dup (p.Met1022fs)
|
rs1597079711
|
|
NM_024675.4(PALB2):c.306del (p.Pro104fs)
|
|
|
NM_024675.4(PALB2):c.3072del (p.Ala1025fs)
|
|
|
NM_024675.4(PALB2):c.3074dup (p.Leu1026fs)
|
|
|
NM_024675.4(PALB2):c.3105del (p.Ile1035fs)
|
|
|
NM_024675.4(PALB2):c.3114G>A (p.Trp1038Ter)
|
rs778345761
|
|
NM_024675.4(PALB2):c.3116del (p.Asn1039fs)
|
rs180177133
|
|
NM_024675.4(PALB2):c.3119T>A (p.Leu1040Ter)
|
|
|
NM_024675.4(PALB2):c.3119T>G (p.Leu1040Ter)
|
|
|
NM_024675.4(PALB2):c.3129dup (p.Gln1044fs)
|
rs1567209922
|
|
NM_024675.4(PALB2):c.3130C>T (p.Gln1044Ter)
|
rs766394024
|
|
NM_024675.4(PALB2):c.3139A>T (p.Lys1047Ter)
|
|
|
NM_024675.4(PALB2):c.313G>T (p.Glu105Ter)
|
|
|
NM_024675.4(PALB2):c.3143del (p.Lys1048fs)
|
rs1555458822
|
|
NM_024675.4(PALB2):c.314_315del (p.Glu105fs)
|
rs1967055393
|
|
NM_024675.4(PALB2):c.3161del (p.Ser1054fs)
|
|
|
NM_024675.4(PALB2):c.3164dup (p.Tyr1055Ter)
|
rs1567209835
|
|
NM_024675.4(PALB2):c.3165C>A (p.Tyr1055Ter)
|
rs876658157
|
|
NM_024675.4(PALB2):c.3165C>G (p.Tyr1055Ter)
|
rs876658157
|
|
NM_024675.4(PALB2):c.3166C>T (p.Gln1056Ter)
|
rs1021662947
|
|
NM_024675.4(PALB2):c.3179_3180del (p.Cys1060fs)
|
|
|
NM_024675.4(PALB2):c.3180T>A (p.Cys1060Ter)
|
rs2142298948
|
|
NM_024675.4(PALB2):c.3186del (p.Ala1063fs)
|
rs869312774
|
|
NM_024675.4(PALB2):c.31del (p.Cys11fs)
|
|
|
NM_024675.4(PALB2):c.3210_3211del (p.Phe1071fs)
|
|
|
NM_024675.4(PALB2):c.3214_3216delinsTCCAA (p.Ile1072fs)
|
|
|
NM_024675.4(PALB2):c.3228_3244dup (p.Ser1082fs)
|
rs786202008
|
|
NM_024675.4(PALB2):c.3228del (p.Cys1078fs)
|
rs1555458223
|
|
NM_024675.4(PALB2):c.3231del (p.Cys1078fs)
|
|
|
NM_024675.4(PALB2):c.3234T>A (p.Cys1078Ter)
|
rs886039634
|
|
NM_024675.4(PALB2):c.3238A>T (p.Lys1080Ter)
|
|
|
NM_024675.4(PALB2):c.3239_3240del (p.Lys1080fs)
|
rs879254060
|
|
NM_024675.4(PALB2):c.3241G>T (p.Glu1081Ter)
|
|
|
NM_024675.4(PALB2):c.3244_3245del (p.Glu1081_Ser1082insTer)
|
rs886039503
|
|
NM_024675.4(PALB2):c.3246_3247del (p.Ser1082fs)
|
rs876658136
|
|
NM_024675.4(PALB2):c.3247_3248insT (p.Glu1083fs)
|
|
|
NM_024675.4(PALB2):c.3247_3253dup (p.Leu1085Ter)
|
|
|
NM_024675.4(PALB2):c.3249_3253delinsAGCC
|
rs1567206909
|
|
NM_024675.4(PALB2):c.3256del (p.Arg1086fs)
|
rs1057517600
|
|
NM_024675.4(PALB2):c.3264del (p.Val1089fs)
|
|
|
NM_024675.4(PALB2):c.326del (p.Pro109fs)
|
rs2142445986
|
|
NM_024675.4(PALB2):c.3271C>T (p.Gln1091Ter)
|
rs864622138
|
|
NM_024675.4(PALB2):c.3286_3289delinsGTTAATGA (p.Asn1096fs)
|
rs587782337
|
|
NM_024675.4(PALB2):c.3291_3300delinsACG (p.Lys1098fs)
|
|
|
NM_024675.4(PALB2):c.3291del (p.Lys1098fs)
|
|
|
NM_024675.4(PALB2):c.3295_3305del (p.Thr1099fs)
|
|
|
NM_024675.4(PALB2):c.3296dup (p.Thr1100fs)
|
|
|
NM_024675.4(PALB2):c.3297_3298insT (p.Thr1100fs)
|
rs1567206823
|
|
NM_024675.4(PALB2):c.3298_3305dup (p.Ser1102fs)
|
|
|
NM_024675.4(PALB2):c.3298_3307del (p.Thr1100fs)
|
|
|
NM_024675.4(PALB2):c.3299_3306dup (p.Val1103fs)
|
rs1555458187
|
|
NM_024675.4(PALB2):c.3302_3306dup (p.Val1103fs)
|
|
|
NM_024675.4(PALB2):c.3313dup (p.Val1105fs)
|
|
|
NM_024675.4(PALB2):c.3323_3327del (p.Tyr1108fs)
|
|
|
NM_024675.4(PALB2):c.3324C>G (p.Tyr1108Ter)
|
rs1218512317
|
|
NM_024675.4(PALB2):c.3332del (p.Pro1111fs)
|
rs1597066595
|
|
NM_024675.4(PALB2):c.3333_3337delinsCCA (p.Pro1112fs)
|
|
|
NM_024675.4(PALB2):c.3333del (p.Pro1112fs)
|
|
|
NM_024675.4(PALB2):c.3339del (p.Gln1114fs)
|
|
|
NM_024675.4(PALB2):c.3347_3348del (p.Gly1116fs)
|
|
|
NM_024675.4(PALB2):c.3358G>T (p.Glu1120Ter)
|
rs876658773
|
|
NM_024675.4(PALB2):c.3362del (p.Gly1121fs)
|
rs515726117
|
|
NM_024675.4(PALB2):c.3374_3395del (p.Asp1125fs)
|
rs876660574
|
|
NM_024675.4(PALB2):c.3394_3395del (p.Leu1132fs)
|
|
|
NM_024675.4(PALB2):c.3395T>A (p.Leu1132Ter)
|
rs1597062296
|
|
NM_024675.4(PALB2):c.3395_3402dup (p.Gly1135Ter)
|
|
|
NM_024675.4(PALB2):c.33T>A (p.Cys11Ter)
|
|
|
NM_024675.4(PALB2):c.3403G>T (p.Gly1135Ter)
|
|
|
NM_024675.4(PALB2):c.3411del (p.Ile1137fs)
|
|
|
NM_024675.4(PALB2):c.3412del (p.Ala1138fs)
|
|
|
NM_024675.4(PALB2):c.3419G>A (p.Trp1140Ter)
|
|
|
NM_024675.4(PALB2):c.3425T>G (p.Leu1142Ter)
|
rs1555457878
|
|
NM_024675.4(PALB2):c.3426_3429del (p.Leu1142fs)
|
rs587776424
|
|
NM_024675.4(PALB2):c.3426dup (p.Leu1143fs)
|
rs587776425
|
|
NM_024675.4(PALB2):c.3433_3436del (p.Gly1145fs)
|
|
|
NM_024675.4(PALB2):c.3436C>T (p.Gln1146Ter)
|
rs879254033
|
|
NM_024675.4(PALB2):c.343G>T (p.Gly115Ter)
|
rs1597099523
|
|
NM_024675.4(PALB2):c.3441T>A (p.Cys1147Ter)
|
rs1555457867
|
|
NM_024675.4(PALB2):c.3452_3454delinsCT (p.Leu1151fs)
|
|
|
NM_024675.4(PALB2):c.3456dup (p.Pro1153fs)
|
rs587776426
|
|
NM_024675.4(PALB2):c.3464_3465del (p.Val1154_Ser1155insTer)
|
rs2142253220
|
|
NM_024675.4(PALB2):c.3469C>T (p.Gln1157Ter)
|
rs1597062038
|
|
NM_024675.4(PALB2):c.3476G>A (p.Trp1159Ter)
|
rs587782050
|
|
NM_024675.4(PALB2):c.347T>A (p.Leu116Ter)
|
rs876660465
|
|
NM_024675.4(PALB2):c.347dup (p.Leu116fs)
|
|
|
NM_024675.4(PALB2):c.3483del (p.Phe1161fs)
|
rs2142252781
|
|
NM_024675.4(PALB2):c.3491G>A (p.Trp1164Ter)
|
rs879254113
|
|
NM_024675.4(PALB2):c.3492G>A (p.Trp1164Ter)
|
rs587782217
|
|
NM_024675.4(PALB2):c.3494C>A (p.Ser1165Ter)
|
rs773829275
|
|
NM_024675.4(PALB2):c.3523C>T (p.Gln1175Ter)
|
rs1555457841
|
|
NM_024675.4(PALB2):c.3537_3547delinsAATGTAG (p.Asn1179_Tyr1183delinsLysMetTer)
|
|
|
NM_024675.4(PALB2):c.3549C>A (p.Tyr1183Ter)
|
rs118203998
|
|
NM_024675.4(PALB2):c.355del (p.Gln119fs)
|
rs1060502760
|
|
NM_024675.4(PALB2):c.373del (p.Gln125fs)
|
|
|
NM_024675.4(PALB2):c.412G>T (p.Glu138Ter)
|
|
|
NM_024675.4(PALB2):c.413_414dup (p.Gln139fs)
|
|
|
NM_024675.4(PALB2):c.419dup (p.Gln141fs)
|
rs1597099331
|
|
NM_024675.4(PALB2):c.421C>T (p.Gln141Ter)
|
rs886039686
|
|
NM_024675.4(PALB2):c.421del (p.Gln141fs)
|
|
|
NM_024675.4(PALB2):c.425del (p.Lys142fs)
|
rs2142443741
|
|
NM_024675.4(PALB2):c.43G>T (p.Glu15Ter)
|
rs730881884
|
|
NM_024675.4(PALB2):c.442_457dup (p.Arg153fs)
|
rs1555461790
|
|
NM_024675.4(PALB2):c.443_446del (p.Lys148fs)
|
|
|
NM_024675.4(PALB2):c.444_445del (p.Lys149fs)
|
rs757860709
|
|
NM_024675.4(PALB2):c.444del (p.Lys149fs)
|
rs1555461796
|
|
NM_024675.4(PALB2):c.451C>T (p.Gln151Ter)
|
rs587776407
|
|
NM_024675.4(PALB2):c.454A>T (p.Lys152Ter)
|
|
|
NM_024675.4(PALB2):c.466_467del (p.Ile156fs)
|
rs876659405
|
|
NM_024675.4(PALB2):c.470C>A (p.Ser157Ter)
|
|
|
NM_024675.4(PALB2):c.472C>T (p.Gln158Ter)
|
rs879254197
|
|
NM_024675.4(PALB2):c.475G>T (p.Glu159Ter)
|
rs1555461788
|
|
NM_024675.4(PALB2):c.481_482del (p.Asp161fs)
|
rs1597099149
|
|
NM_024675.4(PALB2):c.487_488del (p.Val163fs)
|
rs745533713
|
|
NM_024675.4(PALB2):c.500_513del (p.Asp167fs)
|
rs876660719
|
|
NM_024675.4(PALB2):c.503C>A (p.Ser168Ter)
|
rs515726122
|
|
NM_024675.4(PALB2):c.503C>G (p.Ser168Ter)
|
rs515726122
|
|
NM_024675.4(PALB2):c.509_510del (p.Arg170fs)
|
rs515726123
|
|
NM_024675.4(PALB2):c.50T>G (p.Leu17Ter)
|
rs1567224232
|
|
NM_024675.4(PALB2):c.514_517del (p.Ser172fs)
|
rs1555461765
|
|
NM_024675.4(PALB2):c.519del (p.Arg175fs)
|
|
|
NM_024675.4(PALB2):c.521_522insCA (p.Lys174fs)
|
rs1597098996
|
|
NM_024675.4(PALB2):c.523del (p.Arg175fs)
|
|
|
NM_024675.4(PALB2):c.524delinsAT (p.Arg175fs)
|
|
|
NM_024675.4(PALB2):c.527_531del (p.Leu176fs)
|
rs1597098971
|
|
NM_024675.4(PALB2):c.532G>T (p.Glu178Ter)
|
|
|
NM_024675.4(PALB2):c.532del (p.Glu178fs)
|
rs1567222725
|
|
NM_024675.4(PALB2):c.535C>T (p.Gln179Ter)
|
rs730881903
|
|
NM_024675.4(PALB2):c.538_539delinsTAGTTCCTTT (p.Glu180Ter)
|
rs1597098943
|
|
NM_024675.4(PALB2):c.541G>T (p.Glu181Ter)
|
rs864622280
|
|
NM_024675.4(PALB2):c.552del (p.Ser184fs)
|
rs1060502738
|
|
NM_024675.4(PALB2):c.557dup (p.Asn186fs)
|
rs1555461727
|
|
NM_024675.4(PALB2):c.55G>T (p.Glu19Ter)
|
|
|
NM_024675.4(PALB2):c.562del (p.Ala188fs)
|
|
|
NM_024675.4(PALB2):c.569_572delinsTTTTGT (p.Ser190fs)
|
|
|
NM_024675.4(PALB2):c.583del (p.Glu194_Ile195insTer)
|
|
|
NM_024675.4(PALB2):c.58A>T (p.Lys20Ter)
|
rs2142461082
|
|
NM_024675.4(PALB2):c.593del (p.His198fs)
|
|
|
NM_024675.4(PALB2):c.595del (p.Leu199fs)
|
rs2142439618
|
|
NM_024675.4(PALB2):c.599del (p.Leu199_Leu200insTer)
|
rs587782081
|
|
NM_024675.4(PALB2):c.601dup (p.Ser201fs)
|
rs886041220
|
|
NM_024675.4(PALB2):c.609del (p.Lys203fs)
|
|
|
NM_024675.4(PALB2):c.620del (p.Pro207fs)
|
rs1555461704
|
|
NM_024675.4(PALB2):c.62del (p.Lys20_Leu21insTer)
|
|
|
NM_024675.4(PALB2):c.635del (p.Pro212fs)
|
rs1555461697
|
|
NM_024675.4(PALB2):c.646del (p.Ile216fs)
|
rs1597098679
|
|
NM_024675.4(PALB2):c.654del (p.Asp219fs)
|
rs587781697
|
|
NM_024675.4(PALB2):c.658del (p.Ser220fs)
|
rs876659328
|
|
NM_024675.4(PALB2):c.661_662delinsTA (p.Val221Ter)
|
rs587782531
|
|
NM_024675.4(PALB2):c.674dup (p.Thr226fs)
|
rs1967030083
|
|
NM_024675.4(PALB2):c.682del (p.Gln228fs)
|
rs1567222523
|
|
NM_024675.4(PALB2):c.688G>T (p.Glu230Ter)
|
rs730881905
|
|
NM_024675.4(PALB2):c.693del (p.Gly232fs)
|
rs875989791
|
|
NM_024675.4(PALB2):c.695del (p.Gly232fs)
|
rs1060502769
|
|
NM_024675.4(PALB2):c.697del (p.Val233fs)
|
rs180177090
|
|
NM_024675.4(PALB2):c.703dup (p.Thr235fs)
|
rs1967027806
|
|
NM_024675.4(PALB2):c.707dup (p.Leu237fs)
|
rs876658192
|
|
NM_024675.4(PALB2):c.712A>T (p.Arg238Ter)
|
rs779278389
|
|
NM_024675.4(PALB2):c.722_750del (p.Asn241fs)
|
|
|
NM_024675.4(PALB2):c.72del (p.Arg26fs)
|
rs180177142
|
|
NM_024675.4(PALB2):c.734_735dup (p.Thr246fs)
|
rs749731838
|
|
NM_024675.4(PALB2):c.734del (p.Ala245fs)
|
rs2142436112
|
|
NM_024675.4(PALB2):c.73A>T (p.Lys25Ter)
|
rs1248579792
|
|
NM_024675.4(PALB2):c.756dup (p.Leu253fs)
|
rs1967023691
|
|
NM_024675.4(PALB2):c.757_758del (p.Leu253fs)
|
rs180177092
|
|
NM_024675.4(PALB2):c.758_761delinsGAT (p.Leu253fs)
|
|
|
NM_024675.4(PALB2):c.759del (p.Ser254fs)
|
rs1060499830
|
|
NM_024675.4(PALB2):c.76del (p.Arg26fs)
|
rs1597101885
|
|
NM_024675.4(PALB2):c.770del (p.Gly257fs)
|
rs1555461634
|
|
NM_024675.4(PALB2):c.778C>T (p.Gln260Ter)
|
rs1555461627
|
|
NM_024675.4(PALB2):c.782_783del (p.His261fs)
|
rs1967021173
|
|
NM_024675.4(PALB2):c.782dup (p.His261fs)
|
|
|
NM_024675.4(PALB2):c.786del (p.Glu263fs)
|
rs730881870
|
|
NM_024675.4(PALB2):c.7G>T (p.Glu3Ter)
|
rs878855123
|
|
NM_024675.4(PALB2):c.801_802dup (p.Lys268fs)
|
rs1555461618
|
|
NM_024675.4(PALB2):c.820dup (p.Thr274fs)
|
rs1555461611
|
|
NM_024675.4(PALB2):c.821del (p.Thr274fs)
|
|
|
NM_024675.4(PALB2):c.828del (p.His276fs)
|
|
|
NM_024675.4(PALB2):c.829_832del (p.His276_Asp277insTer)
|
rs1555461602
|
|
NM_024675.4(PALB2):c.838_839del (p.Asn280fs)
|
|
|
NM_024675.4(PALB2):c.839del (p.Asn280fs)
|
rs1555461597
|
|
NM_024675.4(PALB2):c.839dup (p.Asn280fs)
|
rs1555461597
|
|
NM_024675.4(PALB2):c.841del (p.Ile281fs)
|
rs1555461595
|
|
NM_024675.4(PALB2):c.844_847del (p.Arg282fs)
|
rs1555461586
|
|
NM_024675.4(PALB2):c.84_85del (p.Tyr28_Ser29delinsTer)
|
|
|
NM_024675.4(PALB2):c.850_866del (p.Thr284fs)
|
|
|
NM_024675.4(PALB2):c.854C>A (p.Ser285Ter)
|
|
|
NM_024675.4(PALB2):c.854del (p.Ser285fs)
|
|
|
NM_024675.4(PALB2):c.860dup (p.Ser288fs)
|
rs864622301
|
|
NM_024675.4(PALB2):c.866T>A (p.Leu289Ter)
|
rs1555461574
|
|
NM_024675.4(PALB2):c.868G>T (p.Glu290Ter)
|
rs1567222143
|
|
NM_024675.4(PALB2):c.869del (p.Glu290fs)
|
|
|
NM_024675.4(PALB2):c.874C>T (p.Gln292Ter)
|
|
|
NM_024675.4(PALB2):c.87dup (p.Lys30fs)
|
|
|
NM_024675.4(PALB2):c.880A>T (p.Lys294Ter)
|
rs753676934
|
|
NM_024675.4(PALB2):c.885_886insG (p.Met296fs)
|
rs1597097936
|
|
NM_024675.4(PALB2):c.886del (p.Lys295_Met296insTer)
|
rs587776408
|
|
NM_024675.4(PALB2):c.886dup (p.Met296fs)
|
rs587776408
|
|
NM_024675.4(PALB2):c.887del (p.Met296fs)
|
rs2142432029
|
|
NM_024675.4(PALB2):c.892_893del (p.Val298fs)
|
rs2142431841
|
|
NM_024675.4(PALB2):c.898del (p.Thr300fs)
|
|
|
NM_024675.4(PALB2):c.899del (p.Thr300fs)
|
rs1555461558
|
|
NM_024675.4(PALB2):c.901_907del (p.Asp301fs)
|
rs1555461551
|
|
NM_024675.4(PALB2):c.909_917delinsT (p.Leu303_Leu304insTer)
|
|
|
NM_024675.4(PALB2):c.932_933insC (p.Lys311fs)
|
rs1060502772
|
|
NM_024675.4(PALB2):c.934dup (p.Ser312fs)
|
|
|
NM_024675.4(PALB2):c.93dup (p.Leu32fs)
|
rs864622498
|
|
NM_024675.4(PALB2):c.944_950del (p.Leu315fs)
|
|
|
NM_024675.4(PALB2):c.945_954del (p.Pro316fs)
|
|
|
NM_024675.4(PALB2):c.948del (p.Thr317fs)
|
rs730881871
|
|
NM_024675.4(PALB2):c.952del (p.Ser318fs)
|
|
|
NM_024675.4(PALB2):c.953_954del (p.Ser318fs)
|
rs1060502800
|
|
NM_024675.4(PALB2):c.956_962del (p.Ser318_Ser319insTer)
|
rs587776409
|
|
NM_024675.4(PALB2):c.962T>G (p.Leu321Ter)
|
|
|
NM_024675.4(PALB2):c.964G>T (p.Glu322Ter)
|
|
|
NM_024675.4(PALB2):c.976dup (p.Ser326fs)
|
rs1555461517
|
|
NM_024675.4(PALB2):c.984_986delinsC (p.Leu329fs)
|
|
|
NM_024675.4(PALB2):c.985_986del (p.Leu329fs)
|
rs1555461514
|
|
NM_024675.4(PALB2):c.986_987dup (p.Asn330Ter)
|
rs2142429230
|
|
NM_024675.4(PALB2):c.991G>T (p.Glu331Ter)
|
|
|
NM_024675.4(PALB2):c.995_996del (p.Leu332fs)
|
rs1567221851
|
|
NM_024685.4(BBS10):c.271dup (p.Cys91fs)
|
rs549625604
|
|
NM_025136.4(OPA3):c.143-1G>C
|
rs80356523
|
|
NM_032043.2(BRIP1):c.196delinsCTC (p.Ser66fs)
|
rs1555618375
|
|
NM_032043.2(BRIP1):c.2398_2400delinsATTTG (p.Tyr800fs)
|
rs1555580957
|
|
NM_032043.2(BRIP1):c.630_637delCCCTGGCC
|
rs1603347058
|
|
NM_032043.3(BRIP1):c.1004G>A (p.Trp335Ter)
|
rs1555607749
|
|
NM_032043.3(BRIP1):c.1005G>A (p.Trp335Ter)
|
rs786201808
|
|
NM_032043.3(BRIP1):c.100dup (p.Arg34fs)
|
|
|
NM_032043.3(BRIP1):c.1015G>T (p.Glu339Ter)
|
|
|
NM_032043.3(BRIP1):c.1018_1019insCT (p.Leu340fs)
|
rs878855134
|
|
NM_032043.3(BRIP1):c.103G>T (p.Gly35Ter)
|
rs373104267
|
|
NM_032043.3(BRIP1):c.1048del (p.Cys350fs)
|
|
|
NM_032043.3(BRIP1):c.1058dup (p.Tyr353Ter)
|
rs2145335621
|
|
NM_032043.3(BRIP1):c.106_107insG (p.Leu36fs)
|
|
|
NM_032043.3(BRIP1):c.1072_1087del (p.Leu358fs)
|
rs1567831649
|
|
NM_032043.3(BRIP1):c.107T>A (p.Leu36Ter)
|
|
|
NM_032043.3(BRIP1):c.1101del (p.Tyr369fs)
|
|
|
NM_032043.3(BRIP1):c.1107C>G (p.Tyr369Ter)
|
rs1489355776
|
|
NM_032043.3(BRIP1):c.1111del (p.Tyr371fs)
|
|
|
NM_032043.3(BRIP1):c.1114_1115delinsA (p.Leu372fs)
|
rs587783377
|
|
NM_032043.3(BRIP1):c.1126C>T (p.Gln376Ter)
|
rs1028347439
|
|
NM_032043.3(BRIP1):c.1126_1127del (p.Gln376fs)
|
rs587780224
|
|
NM_032043.3(BRIP1):c.112dup (p.Ser38fs)
|
rs2078951497
|
|
NM_032043.3(BRIP1):c.1138del (p.Ser380fs)
|
rs2077985927
|
|
NM_032043.3(BRIP1):c.1140dup (p.Met381fs)
|
|
|
NM_032043.3(BRIP1):c.1141del (p.Met381fs)
|
|
|
NM_032043.3(BRIP1):c.1142dup (p.Met381fs)
|
|
|
NM_032043.3(BRIP1):c.1155_1162delinsATA (p.Lys386_Gln388delinsTer)
|
rs1603342339
|
|
NM_032043.3(BRIP1):c.1156A>T (p.Lys386Ter)
|
rs730881635
|
|
NM_032043.3(BRIP1):c.1158dup (p.Glu387fs)
|
|
|
NM_032043.3(BRIP1):c.1159G>T (p.Glu387Ter)
|
|
|
NM_032043.3(BRIP1):c.1162C>T (p.Gln388Ter)
|
rs1304655615
|
|
NM_032043.3(BRIP1):c.1167del (p.Val390fs)
|
|
|
NM_032043.3(BRIP1):c.1201_1204dup (p.Ala402fs)
|
rs730881647
|
|
NM_032043.3(BRIP1):c.1203_1204del (p.Ala402fs)
|
|
|
NM_032043.3(BRIP1):c.1222dup (p.Tyr408fs)
|
rs1603342258
|
|
NM_032043.3(BRIP1):c.1228del (p.Ser409_Val410insTer)
|
|
|
NM_032043.3(BRIP1):c.1229dup (p.Thr411fs)
|
|
|
NM_032043.3(BRIP1):c.1234_1235del (p.Glu412fs)
|
rs1064795649
|
|
NM_032043.3(BRIP1):c.1236del (p.Val413fs)
|
rs863224525
|
|
NM_032043.3(BRIP1):c.1251dup (p.Ala418fs)
|
|
|
NM_032043.3(BRIP1):c.1261del (p.Glu421fs)
|
|
|
NM_032043.3(BRIP1):c.1287_1291del (p.Asn429fs)
|
|
|
NM_032043.3(BRIP1):c.128_131del (p.Leu43fs)
|
rs1064794202
|
|
NM_032043.3(BRIP1):c.128dup (p.Leu43fs)
|
|
|
NM_032043.3(BRIP1):c.1312del (p.Leu438fs)
|
rs1064795413
|
|
NM_032043.3(BRIP1):c.132_139delinsTTTCCACTT (p.Leu44fs)
|
|
|
NM_032043.3(BRIP1):c.133G>T (p.Glu45Ter)
|
rs587781292
|
|
NM_032043.3(BRIP1):c.1344G>A (p.Trp448Ter)
|
|
|
NM_032043.3(BRIP1):c.1356_1371del (p.Asn452fs)
|
rs2145243883
|
|
NM_032043.3(BRIP1):c.1360G>T (p.Glu454Ter)
|
rs1555605955
|
|
NM_032043.3(BRIP1):c.1378_1379del (p.Asp460fs)
|
rs2145243385
|
|
NM_032043.3(BRIP1):c.1384G>T (p.Glu462Ter)
|
|
|
NM_032043.3(BRIP1):c.1403G>A (p.Trp468Ter)
|
rs2145242325
|
|
NM_032043.3(BRIP1):c.1404dup (p.Ser469fs)
|
|
|
NM_032043.3(BRIP1):c.1414G>T (p.Glu472Ter)
|
rs1555605902
|
|
NM_032043.3(BRIP1):c.141del (p.Thr48fs)
|
rs587782065
|
|
NM_032043.3(BRIP1):c.1425_1429del (p.Leu475fs)
|
rs768736851
|
|
NM_032043.3(BRIP1):c.1426del (p.Thr476fs)
|
|
|
NM_032043.3(BRIP1):c.1443dup (p.Ile482fs)
|
|
|
NM_032043.3(BRIP1):c.1457del (p.Thr486fs)
|
rs2145239498
|
|
NM_032043.3(BRIP1):c.1457dup (p.Pro488fs)
|
rs2145239459
|
|
NM_032043.3(BRIP1):c.1471C>T (p.Gln491Ter)
|
|
|
NM_032043.3(BRIP1):c.1471del (p.Gln491fs)
|
|
|
NM_032043.3(BRIP1):c.1483dup (p.Ser495fs)
|
rs1555603622
|
|
NM_032043.3(BRIP1):c.1488_1500del (p.Val497fs)
|
rs747214372
|
|
NM_032043.3(BRIP1):c.1495C>T (p.Gln499Ter)
|
rs1060501739
|
|
NM_032043.3(BRIP1):c.1500dup (p.Glu501fs)
|
|
|
NM_032043.3(BRIP1):c.1504G>T (p.Glu502Ter)
|
|
|
NM_032043.3(BRIP1):c.1510del (p.Ile504fs)
|
rs775735278
|
|
NM_032043.3(BRIP1):c.1510dup (p.Ile504fs)
|
rs775735278
|
|
NM_032043.3(BRIP1):c.1529_1530del (p.Lys510fs)
|
|
|
NM_032043.3(BRIP1):c.1531G>T (p.Glu511Ter)
|
|
|
NM_032043.3(BRIP1):c.1543del (p.Glu515fs)
|
rs1064793812
|
|
NM_032043.3(BRIP1):c.1582A>T (p.Lys528Ter)
|
|
|
NM_032043.3(BRIP1):c.1582_1584delinsG (p.Lys528fs)
|
|
|
NM_032043.3(BRIP1):c.1585G>T (p.Gly529Ter)
|
|
|
NM_032043.3(BRIP1):c.158del (p.Ser53fs)
|
|
|
NM_032043.3(BRIP1):c.1592_1598del (p.Phe531fs)
|
|
|
NM_032043.3(BRIP1):c.1594del (p.Met532fs)
|
|
|
NM_032043.3(BRIP1):c.1598_1599dup (p.Leu534fs)
|
|
|
NM_032043.3(BRIP1):c.15G>A (p.Trp5Ter)
|
rs2078973424
|
|
NM_032043.3(BRIP1):c.1602_1606delinsC (p.Asp535fs)
|
|
|
NM_032043.3(BRIP1):c.1608del (p.Leu537fs)
|
rs2145135618
|
|
NM_032043.3(BRIP1):c.1614del (p.Phe538fs)
|
rs2077667669
|
|
NM_032043.3(BRIP1):c.1618C>T (p.Gln540Ter)
|
rs1603336897
|
|
NM_032043.3(BRIP1):c.1622del (p.Asn541fs)
|
rs1603336895
|
|
NM_032043.3(BRIP1):c.1645_1649dup (p.Ala551fs)
|
rs1555602638
|
|
NM_032043.3(BRIP1):c.1660C>T (p.Gln554Ter)
|
rs777217004
|
|
NM_032043.3(BRIP1):c.1661del (p.Gln554fs)
|
rs749762964
|
|
NM_032043.3(BRIP1):c.1662_1663del (p.Gln554fs)
|
rs1603334758
|
|
NM_032043.3(BRIP1):c.1678_1682del (p.Asn560fs)
|
|
|
NM_032043.3(BRIP1):c.1686del (p.Ile562fs)
|
|
|
NM_032043.3(BRIP1):c.168_171del (p.Leu56fs)
|
rs1603367673
|
|
NM_032043.3(BRIP1):c.1697_1698insTATATCAAATTGATATTTCAACAAC (p.Asp566_Lys567insIleSerAsnTer)
|
rs878855140
|
|
NM_032043.3(BRIP1):c.1697del (p.Asp566fs)
|
rs2077609777
|
|
NM_032043.3(BRIP1):c.1702_1703del (p.Asn568fs)
|
rs1057519365
|
|
NM_032043.3(BRIP1):c.1702_1703delinsT (p.Asn568fs)
|
|
|
NM_032043.3(BRIP1):c.1703del (p.Asn568fs)
|
|
|
NM_032043.3(BRIP1):c.1707del (p.Leu570fs)
|
rs2077609211
|
|
NM_032043.3(BRIP1):c.1727dup (p.Asn576fs)
|
rs587778131
|
|
NM_032043.3(BRIP1):c.1734del (p.Lys578fs)
|
|
|
NM_032043.3(BRIP1):c.1734dup (p.Arg579fs)
|
|
|
NM_032043.3(BRIP1):c.1739C>G (p.Ser580Ter)
|
rs1356014648
|
|
NM_032043.3(BRIP1):c.173dup (p.Cys58fs)
|
|
|
NM_032043.3(BRIP1):c.1744C>T (p.Gln582Ter)
|
|
|
NM_032043.3(BRIP1):c.1758del (p.His587fs)
|
|
|
NM_032043.3(BRIP1):c.1759del (p.His587fs)
|
|
|
NM_032043.3(BRIP1):c.176_180delinsTTGCAGTTACAAAACAAAGCATGGCAACAATCTC (p.Ser59fs)
|
|
|
NM_032043.3(BRIP1):c.1770_1771delinsA (p.Asn590fs)
|
|
|
NM_032043.3(BRIP1):c.1770del (p.Trp592fs)
|
rs2145091141
|
|
NM_032043.3(BRIP1):c.1776G>A (p.Trp592Ter)
|
rs753023295
|
|
NM_032043.3(BRIP1):c.1791del (p.Val598fs)
|
rs1567813223
|
|
NM_032043.3(BRIP1):c.1801del (p.Ser601fs)
|
rs2145081748
|
|
NM_032043.3(BRIP1):c.1802C>A (p.Ser601Ter)
|
|
|
NM_032043.3(BRIP1):c.1803del (p.Asp602fs)
|
|
|
NM_032043.3(BRIP1):c.182T>G (p.Leu61Ter)
|
|
|
NM_032043.3(BRIP1):c.1831del (p.Val611fs)
|
rs1567812616
|
|
NM_032043.3(BRIP1):c.1850T>A (p.Leu617Ter)
|
|
|
NM_032043.3(BRIP1):c.1853_1854insG (p.Pro619fs)
|
rs587781985
|
|
NM_032043.3(BRIP1):c.1870del (p.Ser624fs)
|
|
|
NM_032043.3(BRIP1):c.1888dup (p.Thr630fs)
|
rs763818712
|
|
NM_032043.3(BRIP1):c.1889del (p.Thr630fs)
|
rs1064793626
|
|
NM_032043.3(BRIP1):c.188G>A (p.Trp63Ter)
|
rs1603367649
|
|
NM_032043.3(BRIP1):c.1892_1893del (p.Phe631fs)
|
|
|
NM_032043.3(BRIP1):c.1900C>T (p.Gln634Ter)
|
|
|
NM_032043.3(BRIP1):c.1911dup (p.Asn638Ter)
|
|
|
NM_032043.3(BRIP1):c.1928del (p.Asn643fs)
|
|
|
NM_032043.3(BRIP1):c.1931C>A (p.Ser644Ter)
|
|
|
NM_032043.3(BRIP1):c.1936del
|
rs1567809140
|
|
NM_032043.3(BRIP1):c.1941G>A (p.Trp647Ter)
|
rs786202760
|
|
NM_032043.3(BRIP1):c.1961delinsAATGGTTTGGTACCATTGGGTCAGAATTGGGTCCGA (p.Gly654fs)
|
|
|
NM_032043.3(BRIP1):c.1966A>T (p.Lys656Ter)
|
|
|
NM_032043.3(BRIP1):c.1967dup (p.Arg658fs)
|
rs2077537050
|
|
NM_032043.3(BRIP1):c.1970del (p.Gly657fs)
|
rs760782298
|
|
NM_032043.3(BRIP1):c.1993C>T (p.Gln665Ter)
|
rs1603328780
|
|
NM_032043.3(BRIP1):c.200_201dup (p.Ser68fs)
|
rs1555618374
|
|
NM_032043.3(BRIP1):c.2010dup (p.Glu671Ter)
|
rs775537066
|
|
NM_032043.3(BRIP1):c.2015delinsCC (p.Phe672fs)
|
rs1555601094
|
|
NM_032043.3(BRIP1):c.2023dup (p.Glu675fs)
|
rs2145029870
|
|
NM_032043.3(BRIP1):c.2030del (p.Gly677fs)
|
rs1555601064
|
|
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs)
|
rs587778134
|
|
NM_032043.3(BRIP1):c.2038_2042del (p.Leu680fs)
|
rs1400202829
|
|
NM_032043.3(BRIP1):c.2045_2046del (p.Ser682fs)
|
|
|
NM_032043.3(BRIP1):c.2058dup (p.Val687fs)
|
|
|
NM_032043.3(BRIP1):c.2060_2061del (p.Val687fs)
|
|
|
NM_032043.3(BRIP1):c.2075del (p.Leu692fs)
|
|
|
NM_032043.3(BRIP1):c.2078_2079del (p.Cys693fs)
|
rs1603328466
|
|
NM_032043.3(BRIP1):c.2082del (p.Leu695fs)
|
|
|
NM_032043.3(BRIP1):c.2085dup (p.Pro696fs)
|
rs1060501772
|
|
NM_032043.3(BRIP1):c.2099T>A (p.Leu700Ter)
|
|
|
NM_032043.3(BRIP1):c.2102T>G (p.Leu701Ter)
|
rs876658270
|
|
NM_032043.3(BRIP1):c.2103del (p.Glu702fs)
|
rs2144701568
|
|
NM_032043.3(BRIP1):c.2108delinsTCC (p.Lys703fs)
|
rs786203384
|
|
NM_032043.3(BRIP1):c.2109del (p.Lys703fs)
|
rs2144701307
|
|
NM_032043.3(BRIP1):c.2109dup (p.Leu704fs)
|
|
|
NM_032043.3(BRIP1):c.210del (p.Lys70fs)
|
rs1555617925
|
|
NM_032043.3(BRIP1):c.2111T>A (p.Leu704Ter)
|
rs1057517643
|
|
NM_032043.3(BRIP1):c.2111T>G (p.Leu704Ter)
|
rs1057517643
|
|
NM_032043.3(BRIP1):c.2114_2118del (p.Lys705fs)
|
rs864622611
|
|
NM_032043.3(BRIP1):c.2123G>A (p.Trp708Ter)
|
|
|
NM_032043.3(BRIP1):c.2124G>A (p.Trp708Ter)
|
|
|
NM_032043.3(BRIP1):c.2133del (p.Gly712fs)
|
rs1567781543
|
|
NM_032043.3(BRIP1):c.2138T>G (p.Leu713Ter)
|
rs878855145
|
|
NM_032043.3(BRIP1):c.2143_2163delinsTTCT (p.His715fs)
|
|
|
NM_032043.3(BRIP1):c.2166del (p.Val723fs)
|
|
|
NM_032043.3(BRIP1):c.2166dup (p.Val723fs)
|
|
|
NM_032043.3(BRIP1):c.2182C>T (p.Gln728Ter)
|
rs1296238058
|
|
NM_032043.3(BRIP1):c.2194A>T (p.Lys732Ter)
|
|
|
NM_032043.3(BRIP1):c.2196_2197dup (p.Thr733fs)
|
rs2144697372
|
|
NM_032043.3(BRIP1):c.2197del (p.Thr733fs)
|
rs2144697372
|
|
NM_032043.3(BRIP1):c.2205dup (p.Asp736Ter)
|
rs1555591385
|
|
NM_032043.3(BRIP1):c.2218C>T (p.Gln740Ter)
|
rs1555591361
|
|
NM_032043.3(BRIP1):c.2218del (p.Gln740fs)
|
rs1555591365
|
|
NM_032043.3(BRIP1):c.2221dup (p.Val741fs)
|
rs1567781169
|
|
NM_032043.3(BRIP1):c.2223_2225dup (p.Tyr742Ter)
|
rs1310861578
|
|
NM_032043.3(BRIP1):c.2229T>G (p.Tyr743Ter)
|
rs2077030288
|
|
NM_032043.3(BRIP1):c.2237_2240del (p.Ile746fs)
|
rs587782726
|
|
NM_032043.3(BRIP1):c.2244C>G (p.Tyr748Ter)
|
rs1257401983
|
|
NM_032043.3(BRIP1):c.2251_2254del (p.Glu751fs)
|
rs1555591308
|
|
NM_032043.3(BRIP1):c.2255_2256del (p.Lys752fs)
|
rs730881649
|
|
NM_032043.3(BRIP1):c.227dup (p.Ser77fs)
|
|
|
NM_032043.3(BRIP1):c.2281del (p.Cys761fs)
|
rs1555590521
|
|
NM_032043.3(BRIP1):c.2298_2301del (p.Ser766fs)
|
rs2144678308
|
|
NM_032043.3(BRIP1):c.2313_2319del (p.Phe771fs)
|
rs758128094
|
|
NM_032043.3(BRIP1):c.2315C>A (p.Ser772Ter)
|
|
|
NM_032043.3(BRIP1):c.2334_2337dup (p.Ile780fs)
|
|
|
NM_032043.3(BRIP1):c.2339_2340del (p.Ile780fs)
|
|
|
NM_032043.3(BRIP1):c.2341del (p.Thr781fs)
|
|
|
NM_032043.3(BRIP1):c.2341dup (p.Thr781fs)
|
rs1555590388
|
|
NM_032043.3(BRIP1):c.2350del (p.Ile784fs)
|
|
|
NM_032043.3(BRIP1):c.2364_2366delinsCAATAGGAATTCCTTTACCTGTA (p.Val789fs)
|
|
|
NM_032043.3(BRIP1):c.2383G>T (p.Glu795Ter)
|
rs2144384208
|
|
NM_032043.3(BRIP1):c.2391dup (p.Arg798fs)
|
|
|
NM_032043.3(BRIP1):c.2400C>A (p.Tyr800Ter)
|
rs574552037
|
|
NM_032043.3(BRIP1):c.2400C>G (p.Tyr800Ter)
|
rs574552037
|
|
NM_032043.3(BRIP1):c.2414C>A (p.Ser805Ter)
|
rs2061855838
|
|
NM_032043.3(BRIP1):c.241del (p.Glu81fs)
|
rs1292988272
|
|
NM_032043.3(BRIP1):c.2431_2432delinsTTC (p.Leu811fs)
|
|
|
NM_032043.3(BRIP1):c.243del (p.Val82fs)
|
rs1064794890
|
|
NM_032043.3(BRIP1):c.2443C>T (p.Gln815Ter)
|
|
|
NM_032043.3(BRIP1):c.2447G>A (p.Trp816Ter)
|
rs786204250
|
|
NM_032043.3(BRIP1):c.2448G>A (p.Trp816Ter)
|
rs1064795352
|
|
NM_032043.3(BRIP1):c.2448del (p.Trp816fs)
|
|
|
NM_032043.3(BRIP1):c.2458C>T (p.Gln820Ter)
|
rs2061854079
|
|
NM_032043.3(BRIP1):c.2466delinsACA (p.Tyr822Ter)
|
|
|
NM_032043.3(BRIP1):c.2467del (p.Arg823fs)
|
|
|
NM_032043.3(BRIP1):c.2474_2485delinsG (p.Leu825fs)
|
|
|
NM_032043.3(BRIP1):c.2479C>T (p.Gln827Ter)
|
rs786203898
|
|
NM_032043.3(BRIP1):c.247C>T (p.Gln83Ter)
|
|
|
NM_032043.3(BRIP1):c.2490dup (p.Arg831Ter)
|
|
|
NM_032043.3(BRIP1):c.2507_2508del (p.Arg836fs)
|
rs2061478781
|
|
NM_032043.3(BRIP1):c.2516G>A (p.Trp839Ter)
|
|
|
NM_032043.3(BRIP1):c.2517G>A (p.Trp839Ter)
|
rs1555574803
|
|
NM_032043.3(BRIP1):c.251del (p.Leu84fs)
|
|
|
NM_032043.3(BRIP1):c.2520_2521dup (p.Ala841fs)
|
|
|
NM_032043.3(BRIP1):c.2523_2538delinsCC (p.Leu842fs)
|
rs1603280507
|
|
NM_032043.3(BRIP1):c.2524_2525del (p.Leu842fs)
|
rs1555574788
|
|
NM_032043.3(BRIP1):c.2533dup (p.Val845fs)
|
|
|
NM_032043.3(BRIP1):c.2558del (p.Pro853fs)
|
|
|
NM_032043.3(BRIP1):c.2581dup (p.Ser861fs)
|
rs1567732136
|
|
NM_032043.3(BRIP1):c.2589G>A (p.Trp863Ter)
|
rs1555573497
|
|
NM_032043.3(BRIP1):c.2589_2590insTACG (p.Val864fs)
|
rs1603277005
|
|
NM_032043.3(BRIP1):c.2596C>T (p.Gln866Ter)
|
|
|
NM_032043.3(BRIP1):c.2599C>T (p.Gln867Ter)
|
|
|
NM_032043.3(BRIP1):c.2605C>T (p.Gln869Ter)
|
rs1060501766
|
|
NM_032043.3(BRIP1):c.2615C>A (p.Ser872Ter)
|
|
|
NM_032043.3(BRIP1):c.2649del (p.Glu883fs)
|
|
|
NM_032043.3(BRIP1):c.2656A>T (p.Lys886Ter)
|
|
|
NM_032043.3(BRIP1):c.2684_2687del (p.Val894_Ser895insTer)
|
rs760551339
|
|
NM_032043.3(BRIP1):c.2690del (p.Lys897fs)
|
rs2061358219
|
|
NM_032043.3(BRIP1):c.2707C>T (p.Gln903Ter)
|
|
|
NM_032043.3(BRIP1):c.270C>A (p.Cys90Ter)
|
rs1060501740
|
|
NM_032043.3(BRIP1):c.2714del (p.Asn905fs)
|
rs2144114210
|
|
NM_032043.3(BRIP1):c.2754dup (p.Ser919fs)
|
|
|
NM_032043.3(BRIP1):c.2755delinsCC (p.Ser919fs)
|
|
|
NM_032043.3(BRIP1):c.275C>G (p.Ser92Ter)
|
rs1603366351
|
|
NM_032043.3(BRIP1):c.2763T>G (p.Tyr921Ter)
|
|
|
NM_032043.3(BRIP1):c.2770G>T (p.Glu924Ter)
|
|
|
NM_032043.3(BRIP1):c.2786_2789del (p.Leu929fs)
|
rs1295703239
|
|
NM_032043.3(BRIP1):c.2789C>A (p.Ser930Ter)
|
|
|
NM_032043.3(BRIP1):c.2798dup (p.Asn933fs)
|
|
|
NM_032043.3(BRIP1):c.2830C>T (p.Gln944Ter)
|
rs140233356
|
|
NM_032043.3(BRIP1):c.2833G>T (p.Glu945Ter)
|
rs863224802
|
|
NM_032043.3(BRIP1):c.2835_2838del (p.Glu945fs)
|
|
|
NM_032043.3(BRIP1):c.2846del (p.Pro949fs)
|
|
|
NM_032043.3(BRIP1):c.2864del (p.Asn955fs)
|
|
|
NM_032043.3(BRIP1):c.2893del (p.Arg965fs)
|
|
|
NM_032043.3(BRIP1):c.2899del (p.Glu967fs)
|
|
|
NM_032043.3(BRIP1):c.2902delA (p.Asn969fs)
|
|
|
NM_032043.3(BRIP1):c.290_293del (p.Asn97fs)
|
rs763009188
|
|
NM_032043.3(BRIP1):c.2916_2917del (p.Phe973fs)
|
|
|
NM_032043.3(BRIP1):c.292_293del (p.Asn97_Asn98insTer)
|
rs2145828926
|
|
NM_032043.3(BRIP1):c.2947del (p.Ile983fs)
|
rs774684620
|
|
NM_032043.3(BRIP1):c.2947dup (p.Ile983fs)
|
rs774684620
|
|
NM_032043.3(BRIP1):c.2950_3019del (p.Val984fs)
|
|
|
NM_032043.3(BRIP1):c.2962del (p.Ser988fs)
|
rs2061324917
|
|
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs)
|
rs771028677
|
|
NM_032043.3(BRIP1):c.2992_2995del (p.Lys998fs)
|
rs786203717
|
|
NM_032043.3(BRIP1):c.3004_3005insTGACAGCT (p.Trp1002fs)
|
rs763443434
|
|
NM_032043.3(BRIP1):c.304C>T (p.Gln102Ter)
|
|
|
NM_032043.3(BRIP1):c.30del (p.Ile10fs)
|
rs1567878234
|
|
NM_032043.3(BRIP1):c.314C>G (p.Ser105Ter)
|
rs1555617829
|
|
NM_032043.3(BRIP1):c.330T>G (p.Tyr110Ter)
|
|
|
NM_032043.3(BRIP1):c.332dup (p.Ser112fs)
|
|
|
NM_032043.3(BRIP1):c.349G>T (p.Glu117Ter)
|
rs786203890
|
|
NM_032043.3(BRIP1):c.35_39del (p.Gly12fs)
|
|
|
NM_032043.3(BRIP1):c.376C>T (p.Gln126Ter)
|
|
|
NM_032043.3(BRIP1):c.37del (p.Gly12_Val13insTer)
|
|
|
NM_032043.3(BRIP1):c.37dup (p.Val13fs)
|
|
|
NM_032043.3(BRIP1):c.386dup (p.Pro129_Glu130insTer)
|
rs876660080
|
|
NM_032043.3(BRIP1):c.394dup (p.Thr132fs)
|
rs587781416
|
|
NM_032043.3(BRIP1):c.396_400del (p.Thr133fs)
|
rs1555616206
|
|
NM_032043.3(BRIP1):c.409_410del (p.Lys137fs)
|
rs1057520058
|
|
NM_032043.3(BRIP1):c.40A>T (p.Lys14Ter)
|
rs1555618727
|
|
NM_032043.3(BRIP1):c.424_466del (p.Lys141_Lys142insTer)
|
|
|
NM_032043.3(BRIP1):c.427C>T (p.Gln143Ter)
|
|
|
NM_032043.3(BRIP1):c.428_447del (p.Gln143fs)
|
|
|
NM_032043.3(BRIP1):c.438_440delinsCT (p.Tyr147fs)
|
rs786203429
|
|
NM_032043.3(BRIP1):c.440dup (p.Tyr147Ter)
|
rs786203521
|
|
NM_032043.3(BRIP1):c.441_445delinsA (p.Tyr147_Asp149delinsTer)
|
|
|
NM_032043.3(BRIP1):c.444del (p.Asp149fs)
|
|
|
NM_032043.3(BRIP1):c.448G>T (p.Glu150Ter)
|
rs762701532
|
|
NM_032043.3(BRIP1):c.462dup (p.Gln155fs)
|
rs1567868477
|
|
NM_032043.3(BRIP1):c.463C>T (p.Gln155Ter)
|
rs587781786
|
|
NM_032043.3(BRIP1):c.469G>T (p.Glu157Ter)
|
|
|
NM_032043.3(BRIP1):c.46del (p.Tyr16fs)
|
rs876660613
|
|
NM_032043.3(BRIP1):c.474del (p.Arg160fs)
|
rs1603362580
|
|
NM_032043.3(BRIP1):c.477_481del (p.Lys159fs)
|
rs1555616143
|
|
NM_032043.3(BRIP1):c.478del (p.Arg160fs)
|
rs1555616150
|
|
NM_032043.3(BRIP1):c.491T>G (p.Leu164Ter)
|
|
|
NM_032043.3(BRIP1):c.502C>T (p.Gln168Ter)
|
|
|
NM_032043.3(BRIP1):c.503dup (p.Gln169fs)
|
|
|
NM_032043.3(BRIP1):c.514A>T (p.Lys172Ter)
|
rs1060501765
|
|
NM_032043.3(BRIP1):c.51_55del (p.Phe17fs)
|
|
|
NM_032043.3(BRIP1):c.535_536dup (p.Val180fs)
|
|
|
NM_032043.3(BRIP1):c.53del (p.Pro18fs)
|
|
|
NM_032043.3(BRIP1):c.548T>A (p.Leu183Ter)
|
|
|
NM_032043.3(BRIP1):c.548del (p.Leu183fs)
|
rs1060501778
|
|
NM_032043.3(BRIP1):c.558del (p.Val187fs)
|
|
|
NM_032043.3(BRIP1):c.55dup (p.Tyr19fs)
|
rs1567878148
|
|
NM_032043.3(BRIP1):c.561del (p.Asp188fs)
|
|
|
NM_032043.3(BRIP1):c.566C>A (p.Ser189Ter)
|
|
|
NM_032043.3(BRIP1):c.568G>T (p.Gly190Ter)
|
|
|
NM_032043.3(BRIP1):c.576del (p.Thr192_Val193insTer)
|
rs876660769
|
|
NM_032043.3(BRIP1):c.598G>T (p.Glu200Ter)
|
|
|
NM_032043.3(BRIP1):c.608del (p.Asn203fs)
|
rs1603361570
|
|
NM_032043.3(BRIP1):c.612del (p.Ser206fs)
|
|
|
NM_032043.3(BRIP1):c.622C>T (p.Gln208Ter)
|
|
|
NM_032043.3(BRIP1):c.627dup (p.Pro210fs)
|
|
|
NM_032043.3(BRIP1):c.643_644insGTGGCACCCC (p.Ser215fs)
|
|
|
NM_032043.3(BRIP1):c.644_645del (p.Cys214_Ser215insTer)
|
rs2078117088
|
|
NM_032043.3(BRIP1):c.646del (p.Arg216fs)
|
rs1603347042
|
|
NM_032043.3(BRIP1):c.667C>T (p.Gln223Ter)
|
rs786201733
|
|
NM_032043.3(BRIP1):c.66C>A (p.Tyr22Ter)
|
rs1603368431
|
|
NM_032043.3(BRIP1):c.66C>G (p.Tyr22Ter)
|
rs1603368431
|
|
NM_032043.3(BRIP1):c.674dup (p.Asn225fs)
|
|
|
NM_032043.3(BRIP1):c.676dup (p.Ser226fs)
|
|
|
NM_032043.3(BRIP1):c.68dup (p.Ser24fs)
|
rs1555618716
|
|
NM_032043.3(BRIP1):c.699del (p.Lys234fs)
|
|
|
NM_032043.3(BRIP1):c.700A>T (p.Lys234Ter)
|
|
|
NM_032043.3(BRIP1):c.71dup (p.Gln25fs)
|
rs2145864140
|
|
NM_032043.3(BRIP1):c.727dup (p.Ile243fs)
|
|
|
NM_032043.3(BRIP1):c.734_740dup (p.Tyr247Ter)
|
rs1603346857
|
|
NM_032043.3(BRIP1):c.73C>T (p.Gln25Ter)
|
rs2078971612
|
|
NM_032043.3(BRIP1):c.759_760dup (p.Lys254fs)
|
rs2078112240
|
|
NM_032043.3(BRIP1):c.761_764del (p.Lys254fs)
|
rs2078112057
|
|
NM_032043.3(BRIP1):c.772C>T (p.Gln258Ter)
|
rs1555609257
|
|
NM_032043.3(BRIP1):c.775dup (p.Ile259fs)
|
|
|
NM_032043.3(BRIP1):c.777del (p.Thr260fs)
|
|
|
NM_032043.3(BRIP1):c.777dup (p.Thr260fs)
|
rs1555609254
|
|
NM_032043.3(BRIP1):c.779del (p.Thr260fs)
|
|
|
NM_032043.3(BRIP1):c.788del (p.Leu263fs)
|
|
|
NM_032043.3(BRIP1):c.78dup (p.Ala27fs)
|
rs1555618709
|
|
NM_032043.3(BRIP1):c.806C>G (p.Ser269Ter)
|
|
|
NM_032043.3(BRIP1):c.807_826del (p.Gly270fs)
|
|
|
NM_032043.3(BRIP1):c.811dup (p.Val271fs)
|
|
|
NM_032043.3(BRIP1):c.815dup (p.Met273fs)
|
|
|
NM_032043.3(BRIP1):c.817dup (p.Met273fs)
|
|
|
NM_032043.3(BRIP1):c.840del (p.His281fs)
|
rs1555609191
|
|
NM_032043.3(BRIP1):c.844dup (p.Thr282fs)
|
rs2145414039
|
|
NM_032043.3(BRIP1):c.84dup (p.Met29fs)
|
|
|
NM_032043.3(BRIP1):c.850dup (p.Val284fs)
|
|
|
NM_032043.3(BRIP1):c.866del (p.Val289fs)
|
rs864622166
|
|
NM_032043.3(BRIP1):c.871_872del (p.Asn291fs)
|
|
|
NM_032043.3(BRIP1):c.875del (p.Phe292fs)
|
rs2078107930
|
|
NM_032043.3(BRIP1):c.876del (p.Phe292fs)
|
rs1555609162
|
|
NM_032043.3(BRIP1):c.890_891insT (p.Lys297fs)
|
rs878855159
|
|
NM_032043.3(BRIP1):c.890del (p.Lys297fs)
|
rs786202610
|
|
NM_032043.3(BRIP1):c.8C>A (p.Ser3Ter)
|
rs1603368491
|
|
NM_032043.3(BRIP1):c.903del (p.Leu301fs)
|
rs876659490
|
|
NM_032043.3(BRIP1):c.918del (p.Asn306fs)
|
rs1555609116
|
|
NM_032043.3(BRIP1):c.932_935del (p.Tyr311fs)
|
rs1555607792
|
|
NM_032043.3(BRIP1):c.932del (p.Tyr311fs)
|
rs587778138
|
|
NM_032043.3(BRIP1):c.939T>A (p.Tyr313Ter)
|
|
|
NM_032043.3(BRIP1):c.939T>G (p.Tyr313Ter)
|
rs1436085018
|
|
NM_032043.3(BRIP1):c.942del (p.His314fs)
|
rs2077993152
|
|
NM_032043.3(BRIP1):c.948del (p.His317fs)
|
|
|
NM_032043.3(BRIP1):c.958del (p.Ser320fs)
|
rs864622236
|
|
NM_032043.3(BRIP1):c.964C>T (p.Gln322Ter)
|
rs587778139
|
|
NM_032043.3(BRIP1):c.964del (p.Gln322fs)
|
|
|
NM_032043.3(BRIP1):c.971del (p.Thr324fs)
|
|
|
NM_032043.3(BRIP1):c.984_990del (p.Phe328fs)
|
rs2145339188
|
|
NM_054012.4(ASS1):c.421-2A>G
|
rs751930594
|
|
NM_058195.4(CDKN2A):c.106del (p.Ala36fs)
|
|
|
NM_058216.3(RAD51C):c.109del (p.Glu37fs)
|
|
|
NM_058216.3(RAD51C):c.204T>A (p.Cys68Ter)
|
rs1567785888
|
|
NM_058216.3(RAD51C):c.245_246insGATGTACA (p.His82fs)
|
rs2143721294
|
|
NM_058216.3(RAD51C):c.397C>T (p.Gln133Ter)
|
rs387907159
|
|
NM_058216.3(RAD51C):c.42_45dup (p.Ser16fs)
|
|
|
NM_058216.3(RAD51C):c.502dup (p.Arg168fs)
|
rs2143747561
|
|
NM_058216.3(RAD51C):c.732del (p.Ile244fs)
|
rs1060502601
|
|
NM_058216.3(RAD51C):c.784_787dup (p.Asn263fs)
|
|
|
NM_058216.3(RAD51C):c.851_854del (p.Asn284fs)
|
rs1060502605
|
|
NM_058216.3(RAD51C):c.93del (p.Phe32fs)
|
rs730881942
|
|
NM_138413.4(HOGA1):c.938AGG[2] (p.Glu315del)
|
rs397509360
|
|
NM_138694.4(PKHD1):c.3761_3762delinsG (p.Ala1254fs)
|
rs398124484
|
|
NM_144997.7(FLCN):c.1021del (p.Arg341fs)
|
rs1060502368
|
|
NM_144997.7(FLCN):c.1029_1030insGCAGCCCCGGAATCTG (p.Pro344fs)
|
|
|
NM_144997.7(FLCN):c.1215C>G (p.Tyr405Ter)
|
rs786202541
|
|
NM_144997.7(FLCN):c.1252del (p.Leu418fs)
|
rs864622651
|
|
NM_144997.7(FLCN):c.1265del (p.Pro422fs)
|
rs2144857383
|
|
NM_144997.7(FLCN):c.1285del (p.His429fs)
|
rs80338682
|
|
NM_144997.7(FLCN):c.1285dup (p.His429fs)
|
rs80338682
|
|
NM_144997.7(FLCN):c.1286_1287delinsCAT (p.His429fs)
|
|
|
NM_144997.7(FLCN):c.1286dup (p.His429fs)
|
rs879255675
|
|
NM_144997.7(FLCN):c.1294_1295del (p.Ser432fs)
|
|
|
NM_144997.7(FLCN):c.1300+1G>A
|
rs879255676
|
|
NM_144997.7(FLCN):c.1305del (p.Phe435fs)
|
rs398124527
|
|
NM_144997.7(FLCN):c.1318_1334dup (p.Leu449fs)
|
rs879255677
|
|
NM_144997.7(FLCN):c.1360del (p.Cys454fs)
|
|
|
NM_144997.7(FLCN):c.1379_1380del (p.Leu460fs)
|
rs1064793128
|
|
NM_144997.7(FLCN):c.1389C>A (p.Tyr463Ter)
|
rs137852929
|
|
NM_144997.7(FLCN):c.1389C>G (p.Tyr463Ter)
|
rs137852929
|
|
NM_144997.7(FLCN):c.1429C>T (p.Arg477Ter)
|
rs879255678
|
|
NM_144997.7(FLCN):c.1578_1599del (p.Ser526fs)
|
rs1057518043
|
|
NM_144997.7(FLCN):c.158del (p.Gln53fs)
|
rs1131690825
|
|
NM_144997.7(FLCN):c.189del (p.Ala64fs)
|
rs876660611
|
|
NM_144997.7(FLCN):c.235_238del (p.Ser79fs)
|
rs750146811
|
|
NM_144997.7(FLCN):c.296del (p.Asp99fs)
|
rs398124534
|
|
NM_144997.7(FLCN):c.2T>C (p.Met1Thr)
|
|
|
NM_144997.7(FLCN):c.33C>A (p.Cys11Ter)
|
rs754616167
|
|
NM_144997.7(FLCN):c.346C>T (p.Gln116Ter)
|
rs398124536
|
|
NM_144997.7(FLCN):c.3G>A (p.Met1Ile)
|
|
|
NM_144997.7(FLCN):c.476_479dup (p.Asp160fs)
|
rs2144979340
|
|
NM_144997.7(FLCN):c.499C>T (p.Gln167Ter)
|
rs587782069
|
|
NM_144997.7(FLCN):c.503_513del (p.Arg168fs)
|
|
|
NM_144997.7(FLCN):c.521_527del (p.Thr174fs)
|
rs1085307478
|
|
NM_144997.7(FLCN):c.584del (p.Gly195fs)
|
rs878855217
|
|
NM_144997.7(FLCN):c.671_672del (p.Thr224fs)
|
|
|
NM_144997.7(FLCN):c.708del (p.Asn236fs)
|
rs886039369
|
|
NM_144997.7(FLCN):c.779G>A (p.Trp260Ter)
|
rs368778627
|
|
NM_144997.7(FLCN):c.792_798dup (p.Ser267fs)
|
|
|
NM_144997.7(FLCN):c.875T>G (p.Leu292Ter)
|
rs879255668
|
|
NM_144997.7(FLCN):c.890_893del (p.Glu297fs)
|
rs398124541
|
|
NM_144997.7(FLCN):c.919G>T (p.Glu307Ter)
|
rs932256543
|
|
NM_144997.7(FLCN):c.927_954dup (p.Gly319fs)
|
rs398124542
|
|
NM_144997.7(FLCN):c.927dup (p.Ala310fs)
|
rs879255669
|
|
NM_144997.7(FLCN):c.932del (p.Pro311fs)
|
rs1555608617
|
|
NM_152564.5(VPS13B):c.3348_3349del (p.Cys1117fs)
|
rs180177327
|
|
NM_152564.5(VPS13B):c.6865+1G>T
|
rs202046738
|
|
NM_153676.4(USH1C):c.238dup (p.Arg80fs)
|
rs397515359
|
|
NM_153676.4(USH1C):c.496+1G>A
|
rs138138689
|
|