ClinVar Miner

List of variants reported as pathogenic by Myriad Genetics, Inc.

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7193
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HGVS dbSNP gnomAD frequency
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

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